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Experimental Factor Ontology (EFO)

This is the rendering of the most current version of the inferred view of the Experimental Factor Ontology. Each class is represented by a block starting with a label in header and a class URI directly below. Parents and children of the class follow together with synonyms (alternative_term), defintions, and xrefs to external resources (definition_citation).

Summary information:

Number of classes:

15629

Number of xrefs | synonyms | definitions:

3759 | 34057 | 7806

Version info:

2.58




'neonatal abstinence syndrome'

http://www.ebi.ac.uk/efo/EFO_0005799

A constellation of neurobehavioral features observed in a neonate following antenatal exposure to drugs including opioids, benzodiazepines, and selective serotonin reuptake inhibitors.


parents

'substance withdrawal syndrome'

'substance withdrawal syndrome'

http://www.ebi.ac.uk/efo/EFO_0005800

A substance-specific organic brain syndrome that follows the discontinuation of administration or use, or reduction in intake of an addictive substance, e.g. opioids, barbiturates and alcohol; amphetamines or similarly acting sympathomimetics; cocaine; nicotine; sedatives, hypnotics, or anxiolytics. Syndrome manifests with diverse, often painful physical and psychological symptoms, which include but not limited to intense drug craving, anxiety, depression, insomnia, nausea, perspiration, body aches, tremors, hallucinations, and convulsions.


parents

mental or behavioural disorder


children

'neonatal abstinence syndrome'

'thoracic aortic raised atherosclerotic lesion'

http://www.ebi.ac.uk/efo/EFO_0005618

An atherosclerotic abnormality of the thoracic aorta used as a container term for fibrous plaques, complicated lesions, and calcified lesions.


parents

phenotypic abnormality of the aorta


synonyms

thoracic aortic raised lesions

(-)-demecolcine

http://purl.obolibrary.org/obo/CHEBI_4393


parents

drug


synonyms

(-)-colchamine

(7S)-1,2,3,10-tetramethoxy-7-(methylamino)-6,7-dihydrobenzo[a]heptalen-9(5H)-one

C21H25NO5

Colcemid

demecolcina

demecolcine

demecolcinum

N-deacetyl-N-methylcolchicine

N-desacetyl-N-methylcolchicine

N-methyl-N-deacetylcolchicine

N-methyl-N-desacetylcolchicine

Reichstein's F

Santavy's substance F

(+)-abscisic acid

http://purl.obolibrary.org/obo/CHEBI_2365

An abscisic acid that has formula C15H20O4.

The naturally occurring (1'S)-(+) enantiomer of abscisic acid. It is an important sesquiterpenoid plant hormone which acts as a regulator of plant responses to environmental stresses such as drought and cold.


parents

hormone

acid


synonyms

(2Z,4E)-5-[(1S)-1-hydroxy-2,6,6-trimethyl-4-oxocyclohex-2-en-1-yl]-3-methylpenta-2,4-dienoic acid

(7E,9Z)-(6S)-6-hydroxy-3-oxo-11-apo-epsilon-caroten-11-oic acid

(S)-(+)-abscisic acid

2-cis,4-trans-abscisic acid

ABA

abscisin II

C15H20O4

CC(\\C=C\\[C@@]1(O)C(C)=CC(=O)CC1(C)C)=C\\C(O)=O

InChI=1/C15H20O4/c1-10(7-13(17)18)5-6-15(19)11(2)8-12(16)9-14(15,3)4/h5-8,19H,9H2,1-4H3,(H,17,18)/b6-5+,10-7-/t15-/m1/s1/f/h17H

InChIKey=JLIDBLDQVAYHNE-MPLKMVHTDC

(+)-alpha-tocopherol

http://purl.obolibrary.org/obo/CHEBI_18145

An alpha-tocopherol that has formula C29H50O2.


parents

drug


synonyms

(2R,4'R,8'R)-alpha-tocopherol

(2R)-2,5,7,8-tetramethyl-2-[(4R,8R)-4,8,12-trimethyltridecyl]-3,4-dihydro-2H-chromen-6-ol

(2R)-2,5,7,8-TETRAMETHYL-2-[(4R,8R)-4,8,12-TRIMETHYLTRIDECYL]CHROMAN-6-OL

(R,R,R)-alpha-tocopherol

5,7,8-trimethyltocol

C29H50O2

CC(C)CCC[C@@H](C)CCC[C@@H](C)CCC[C@]1(C)CCc2c(C)c(O)c(C)c(C)c2O1

d-alpha-tocopherol

InChI=1/C29H50O2/c1-20(2)12-9-13-21(3)14-10-15-22(4)16-11-18-29(8)19-17-26-25(7)27(30)23(5)24(6)28(26)31-29/h20-22,30H,9-19H2,1-8H3/t21-,22-,29-/m1/s1

InChIKey=GVJHHUAWPYXKBD-IEOSBIPEBS

Vitamin E

(+)-catechin monohydrate

http://purl.obolibrary.org/obo/CHEBI_58994

"The monohydrate of (+)-catechin." []


parents

chemical compound


synonyms

(-)-catechin hydrate

(2R-trans)-2-(3,4-Dihydroxyphenyl)-3,4-dihydro-2H-1-benzopyran-3,5,7-triol monohydrate

(2R-trans)-2-(3,4-Dihydroxyphenyl)-3,4-dihydro-2H-1-benzopyran-3,5,7-triol monohydrate

Catechin hydrate

Catechin hydrate

(+)-dexrazoxane

http://purl.obolibrary.org/obo/CHEBI_50223

A razoxane that has formula C11H16N4O4.


parents

drug


synonyms

(+)-(S)-4,4'-Propylenedi-2,6-piperazinedione

(+)-1,2-Bis(3,5-dioxo-1-piperazinyl)propane

4,4'-(2S)-propane-1,2-diyldipiperazine-2,6-dione

C[C@@H](CN1CC(=O)NC(=O)C1)N1CC(=O)NC(=O)C1

C11H16N4O4

dexrazoxano

dexrazoxanum

Dextrorazoxane

InChI=1/C11H16N4O4/c1-7(15-5-10(18)13-11(19)6-15)2-14-3-8(16)12-9(17)4-14/h7H,2-6H2,1H3,(H,12,16,17)(H,13,18,19)/t7-/m0/s1/f/h12-13H

InChIKey=BMKDZUISNHGIBY-QVMQBSIXDF

(1->3)-beta-D-glucan

http://purl.obolibrary.org/obo/CHEBI_37671

"A beta-D-glucan in which the glucose units are connected by (1->3) linkages." []


parents

chemical compound


synonyms

(1,3-beta-D-glucosyl)n

(1,3-beta-D-glucosyl)n

(1,3-beta-D-Glucosyl)n

(1,3-beta-D-Glucosyl)n

(1,3-beta-D-Glucosyl)n+1

(1,3-beta-D-Glucosyl)n+1

(1,3-beta-D-Glucosyl)n-1

(1,3-beta-D-Glucosyl)n-1

1,3-beta-D-Glucan

1,3-beta-D-Glucan

1,3-beta-Glucan

1,3-beta-Glucan

callose

callose

curdlan

curdlan

zymosan

zymosan

(15Z)-12-oxophyto-10,15-dienoic acid

http://purl.obolibrary.org/obo/CHEBI_15560

An omega-3 fatty acid that has formula C18H28O3.

Expressed in keratinocytes by human FABP5 Gene (FABP Family), highly conserved 135-aa 15-kDa cytoplasmic Fatty Acid Binding Protein 5 binds long-chain fatty acids with high specificity, and other hydrophobic ligands. Likely involved in fatty acid uptake, transport, or metabolism and in keratinocyte differentiation, FABP5 has highest affinity for C18 chain lengths and decreasing affinity for decreasing chain lengths or chains with double bonds. (NCI)


parents

acid


synonyms

(15Z)-12-Oxophyto-10,15-dienoate

12-OPDA

12-Oxo-10,15(Z)-phytodienoic acid

12-oxophytodienoic acid

4-oxo-5-(2-pentenyl)-2-Cyclopentene-1-octanoic acid

8-(2-(cis-2'-Pentenyl)-3-oxo-cis-4-cyclopentenyl)octanoic acid

8-{(1S,5S)-4-oxo-5-[(2Z)-pent-2-en-1-yl]cyclopent-2-en-1-yl}octanoic acid

9(S),13(S)-12-Oxo-PDA

C18H28O3

CC\\C=C/C[C@H]1[C@@H](CCCCCCCC(O)=O)C=CC1=O

EFABP

Epidermal Fatty Acid-Binding Protein

FABP5

Fatty Acid Binding Protein 5

InChI=1/C18H28O3/c1-2-3-7-11-16-15(13-14-17(16)19)10-8-5-4-6-9-12-18(20)21/h3,7,13-16H,2,4-6,8-12H2,1H3,(H,20,21)/b7-3-/t15-,16-/m0/s1/f/h20H

InChIKey=PMTMAFAPLCGXGK-OFJIPWNVDL

OPDA

PAFABP

(1R,3S)-3-(adamantan-1-yl)-1-(aminomethyl)-3,4-dihydroisochromene-5,6-diol hydrochloride

http://purl.obolibrary.org/obo/CHEBI_64078


parents

drug

ionic salt


synonyms

(1R,3S)-3-(adamantan-1-yl)-1-(aminomethyl)-3,4-dihydro-1H-isochromene-5,6-diol hydrochloride

[(1R,3S)-3-(adamantan-1-yl)-5,6-dihydroxy-3,4-dihydro-1H-isochromen-1-yl]methanaminium chloride

3-(1'-Adamantyl)-1-aminomethyl-3,4-dihydro-5,6-dihydroxy-1H-2-benzopyran hydrochloride

A77636

A 77636

A-77636

A77636 hydrochloride

A 77636 hydrochloride

C20H28ClNO3

(1S,2R)-5-methoxy-1-methyl-2-(propylamino)tetralin hydrochloride

http://purl.obolibrary.org/obo/CHEBI_64115


parents

drug

ionic salt


synonyms

(+)-AJ 76 hydrochloride

(1S,2R)-5-methoxy-1-methyl-N-propyl-1,2,3,4-tetrahydronaphthalen-2-amine hydrochloride

(1S,2R)-5-methoxy-1-methyl-N-propyl-1,2,3,4-tetrahydronaphthalen-2-aminium chloride

C15H24ClNO

cis-(+)-5-methoxy-1-methyl-2-(propylamino)tetralin hydrochloride

(2,4-dichlorophenoxy)acetic acid

http://purl.obolibrary.org/obo/CHEBI_28854

A chlorophenoxyacetic acid that has formula C8H6Cl2O3.

Encoded by HOXC6 Gene (ANTP Family), 153- and 235-amino acid (27-kD) Homeobox C6 Protein isoforms are highly conserved sequence-specific DNA-binding homeobox transcription repressors that can cooperate with other HOX proteins and may contribute to the breast cell phenotype through co-operative interactions. As part of a developmental regulatory system that provides anterior-posterior positional identity to cells, HOXC6 may regulate the coordinated expression of multiple genes involved in morphogenesis and differentiation. (from LocusLink, Swiss-Prot, OMIM, and NCI)

Homeobox protein Hox-C6 (235 aa, ~27 kDa) is encoded by the human HOXC6 gene. This protein plays a role in transcription and embryonic development.


parents

acid


synonyms

(2,4-Dichlorphenoxy)essigsaeure

2,4-D

2,4-D; 2,4-dichlorophenoxyacetic acid

2,4-Dichlorophenoxyacetate

2,4-Dichlorophenoxyacetic acid

C8H6Cl2O3

CP25

Hedonal

HHO.C8

Homeobox Protein 3C

Homeobox Protein C6

Homeobox Protein C8

Homeobox Protein CP25

Homeobox Protein HHO.C8

Homeobox Protein Hox-3C

Homeobox Protein HOXC6

Homeobox Protein Hox-C6

HOX3C

HOXC6

InChI=1/C8H6Cl2O3/c9-5-1-2-7(6(10)3-5)13-4-8(11)12/h1-3H,4H2,(H,11,12)/f/h11H

InChIKey=OVSKIKFHRZPJSS-WXRBYKJCCM

OC(=O)COc1ccc(Cl)cc1Cl

Trinoxol

(2R,3S)-EHNA hydrochloride

http://purl.obolibrary.org/obo/CHEBI_64139


parents

ionic salt


synonyms

(2R,3S)-3-(6-amino-9H-purin-9-yl)nonan-2-ol hydrochloride

(2R,3S)-3-(adenin-9-yl)-2-nonanol hydrochloride

(2R,3S)-9-(2-hydroxy-3-nonyl)adenine hydrochloride

(2R,3S)-EHNA.HCl

(R,S)-6-amino-beta-hexyl-alpha-methyl-9H-purine-9-ethanol hydrochloride

C14H24ClN5O

erythro-9-(2-hydroxy-3-nonyl)adenine hydrochloride

(2Z,3Z)-bis\{amino[(2-aminophenyl)sulfanyl]methylidene\}butanedinitrile

http://purl.obolibrary.org/obo/CHEBI_64208


parents

drug


synonyms

(2Z,3Z)-bis{amino[(2-aminophenyl)sulfanyl]methylene}succinonitrile

1,4-Diamino-2,3-dicyano-1,4-bis(o-aminophenylmercapto)butadiene

C18H16N6S2

U0126

U 0126

(9R,13R)-12-oxo-phytodienoic acid

http://purl.obolibrary.org/obo/CHEBI_34005

The (9R,13R)-diastereomer of 12-oxophytodienoic acid.


parents

acid


synonyms

(9R,13R)-12-oxophytodienoic acid

12-oxophytodienoic acid

8-{(1R,5R)-4-oxo-5-[(2Z)-pent-2-en-1-yl]cyclopent-2-en-1-yl}octanoic acid

C18H28O3

CC\\C=C/C[C@@H]1[C@H](CCCCCCCC(O)=O)C=CC1=O

InChI=1/C18H28O3/c1-2-3-7-11-16-15(13-14-17(16)19)10-8-5-4-6-9-12-18(20)21/h3,7,13-16H,2,4-6,8-12H2,1H3,(H,20,21)/b7-3-/t15-,16-/m1/s1/f/h20H

InChIKey=PMTMAFAPLCGXGK-VSUHVYTRDP

OPDA

(E)-clothianidin

http://purl.obolibrary.org/obo/CHEBI_39177


parents

chemical compound


synonyms

(E)-1-[(2-chloro-1,3-thiazol-5-yl)methyl]-3-methyl-2-nitroguanidine

(E)-N-(2-chloro-5-thiazolyl)methyl-N'-methyl-N''-nitroguanidine

C6H8ClN5O2S

Clothianidin

(R)-lactic acid

http://purl.obolibrary.org/obo/CHEBI_42111


parents

chemical compound


synonyms

(-)-lactic acid

(2R)-2-hydroxypropanoic acid

(R)-(-)-lactic acid

C3H6O3

D-2-Hydroxypropanoic acid

D-2-Hydroxypropionic acid

D-lactic acid

D-Lactic acid

D-Milchsaeure

LACTIC ACID

(S)-(-)-sulpiride

http://purl.obolibrary.org/obo/CHEBI_64119


parents

drug


synonyms

(-)-N-(((S)-1-Ethyl-2-pyrrolidinyl)methyl)-5-sulfamoyl-o-anisamide

(-)-sulpiride

(S)-(-)-5-aminosulfonyl-N-[(1-ethyl-2-pyrrolidinyl)methyl]-2-methoxybenzamide

(S)-(-)-N-((1-Ethyl-2-pyrrolidinyl)methyl)-5-sulfamoyl-o-anisamide

(S)-sulpiride

C15H23N3O4S

levosulpirida

levosulpiride

levosulpiridum

N-{[(2S)-1-ethylpyrrolidin-2-yl]methyl}-2-methoxy-5-sulfamoylbenzamide

S-(-)-N-(1-Ethyl-2-pyrrolidinomethyl)-2-methoxy-5-sulfamoylebenzamide

(S)-alpha-methyl-4-carboxyphenylglycine

http://purl.obolibrary.org/obo/CHEBI_43876


parents

chemical compound


synonyms

(+)-alpha-methyl-4-carboxyphenylglycine

(+)-MCPG

(S)-(+)-alpha-amino-4-carboxy-2-methylbenzeneacetic

(S)-(+)-alpha-methyl-4-carboxyphenylglycine

(S)-(ALPHA)-METHYL-4-CARBOXYPHENYLGLYCINE

(S)-a-methyl-4-carboxyphenylglycine

(S)-MCPG

4-[(1S)-1-amino-1-carboxyethyl]benzoic acid

C10H11NO4

(S)-azetidine-2-carboxylic acid

http://purl.obolibrary.org/obo/CHEBI_6198


parents

chemical compound


synonyms

(2S)-azetidine-2-carboxylic acid

(S)-(-)-Azetidine-2-carboxylic acid

(S)-2-azetidinecarboxylic acid

(S)-azetidine-2-carboxylic acid

Azetidyl-2-carboxylic acid

C4H7NO2

L-Azetidine 2-carboxylic acid

0 seed germination stage

http://purl.obolibrary.org/obo/PO_0007057

The resumption of growth by the embryo in a seed.


parents

sporophyte development stage


children

coleoptile emergence stage

coleorhiza emergence stage

radicle emergence

seed imbibition stage


synonyms

Boyes Arabidopsis Growth Stage 0

Principal growth stage 0

1,1'-azobis(N,N-dimethylformamide)

http://purl.obolibrary.org/obo/CHEBI_48958

A monoazo compound that has formula C6H12N4O2.


parents

amide


synonyms

3-(N,N-dimethylcarbamoylimido)-1,1-dimethylurea

azodicarboxylic acid bis-dimethylamide

C6H12N4O2

CN(C)C(=O)N=NC(=O)N(C)C

Diamide

diazenedicarboxylic acid bis(N,N-dimethylamide)

InChI=1/C6H12N4O2/c1-9(2)5(11)7-8-6(12)10(3)4/h1-4H3

InChIKey=VLSDXINSOMDCBK-UHFFFAOYAG

N,N,N',N'-tetramethylazobisformamide

N,N,N',N'-tetramethylazodicarboxamide

N,N,N',N'-tetramethylazoformamide

N,N,N',N'-tetramethyldiazene-1,2-dicarboxamide

tetramethyldiazenedicarboxamide

TMAD

1,10-phenanthroline

http://purl.obolibrary.org/obo/CHEBI_44975

A phenanthroline that has formula C12H8N2.


parents

chemical compound


synonyms

4,5-diazaphenanthrene

C12H8N2

c1cnc2c(c1)ccc1cccnc21

InChI=1/C12H8N2/c1-3-9-5-6-10-4-2-8-14-12(10)11(9)13-7-1/h1-8H

InChIKey=DGEZNRSVGBDHLK-UHFFFAOYAW

o-Phenanthroline

orthophenanthroline

phen

1,1-bis(2-aminoethyl)-2-hydroxy-3-oxotriazane

http://purl.obolibrary.org/obo/CHEBI_50154


parents

chemical compound


synonyms

1,1-bis(2-aminoethyl)-2-hydroxy-3-oxotriazane

2,2'-(hydroxynitrosohydrazino)bis-ethanamine

C4H13N5O2

DETA NONOate

diethylenetriamine NONOate

NOC-18

1,2-dibromoethane

http://purl.obolibrary.org/obo/CHEBI_28534


parents

chemical compound


synonyms

1,2-dibromoethane

1,2-Dibromoethane

alpha,beta-dibromoethane

alpha,omega-dibromoethane

C2H4Br2

DBE

EDB

ethylene bromide

Ethylene dibromide

sym-Dibromoethane

1,4-dichlorobenzene

http://purl.obolibrary.org/obo/CHEBI_28618


parents

chemical compound


synonyms

1,4-dichlorobenzene

1,4-Dichlorobenzene

C6H4Cl2

PARA

Paradichlorbenzol

paradichlorobenzene

p-chlorophenyl chloride

PDCB

p-Dichlorbenzol

p-Dichlorobenzene

1,4-dithiothreitol

http://purl.obolibrary.org/obo/CHEBI_18320

The threo-diastereomer of 1,4-dimercaptobutane-2,3-diol.


parents

chemical compound


synonyms

(R*,R*)-1,4-dimercapto-2,3-butanediol

C4H10O2S2

Cleland's reagent

Dithiothreitol

Dithiotreitol

DL-threo-1,4-Dimercapto-2,3-butanediol

DTT; dithiothreitol

InChI=1/C4H10O2S2/c5-3(1-7)4(6)2-8/h3-8H,1-2H2

InChIKey=VHJLVAABSRFDPM-UHFFFAOYAZ

OC(CS)C(O)CS

rac-Dithiothreitol

rel-(2R,3R)-1,4-disulfanylbutane-2,3-diol

threo-1,4-Dimercapto-2,3-butanediol

1,9-dideoxyforskolin

http://purl.obolibrary.org/obo/CHEBI_50295

A labdane diterpenoid that has formula C22H34O5.


parents

chemical compound


synonyms

(3R,4aS,5S,6S,6aS,10aS,10bR)-3-ethenyl-6-hydroxy-3,4a,7,7,10a-pentamethyl-1-oxododecahydro-1H-benzo[f]chromen-5-yl acetate

(3R,4aS,5S,6S,6aS,10aS,10bR)-5-(acetyloxy)-3-ethenyldodecahydro-6-hydroxy-3,4a,7,7,10a-pentamethyl-1H-naphtho(2,1-b)pyran-1-one

(3R-(3alpha,4abeta,5beta,6beta,6aalpha,10abeta,10balpha))-5-(acetyloxy)-3-ethenyldodecahydro-6-hydroxy-3,4a,7,7,10a-pentamethyl-1H-naphtho(2,1-b)pyran-1-one

[H][C@@]12[C@H](O)[C@H](OC(C)=O)[C@@]3(C)O[C@](C)(CC(=O)[C@]3([H])[C@@]1(C)CCCC2(C)C)C=C

7beta-acetoxy-8,13-epoxy-6beta-hydroxylabd-14-en-11-one

C22H34O5

InChI=1/C22H34O5/c1-8-20(5)12-14(24)16-21(6)11-9-10-19(3,4)17(21)15(25)18(26-13(2)23)22(16,7)27-20/h8,15-18,25H,1,9-12H2,2-7H3/t15-,16+,17-,18-,20-,21+,22-/m0/s1

InChIKey=ZKZMDXUDDJYAIB-SUCLLAFCBT

1-(2,4-dichlorobenzyl)-1H-indazole-3-carboxylic acid

http://purl.obolibrary.org/obo/CHEBI_50138

An indazole that has formula C15H10Cl2N2O2.


parents

acid


synonyms

1-(2,4-dichlorbenzyl)-indazole-3-carboxylic acid

C15H10Cl2N2O2

DICA

diclondazolic acid

Doridamina

InChI=1/C15H10Cl2N2O2/c16-10-6-5-9(12(17)7-10)8-19-13-4-2-1-3-11(13)14(18-19)15(20)21/h1-7H,8H2,(H,20,21)/f/h20H

InChIKey=WDRYRZXSPDWGEB-UYBDAZJACL

Lonidamin

lonidamina

lonidamine

lonidaminum

OC(=O)c1nn(Cc2ccc(Cl)cc2Cl)c2ccccc12

1-[1-(1-benzothiophen-2-yl)cyclohexyl]piperidine maleate

http://purl.obolibrary.org/obo/CHEBI_64144


parents

chemical compound


synonyms

1-[1-(1-benzothiophen-2-yl)cyclohexyl]piperidine (2Z)-but-2-enedioate

1-[1-(1-benzothiophen-2-yl)cyclohexyl]piperidinium (2Z)-3-carboxyacrylate

BTCP maleate

C23H29NO4S

1-[2-(benzhydryloxy)ethyl]-4-(3-phenylpropyl)piperazine dihydrochloride

http://purl.obolibrary.org/obo/CHEBI_64091


parents

ionic salt


synonyms

1-[2-(diphenylmethoxy)ethyl]-4-(3-phenylpropyl)piperazine dihydrochloride

1-[2-(diphenylmethoxy)ethyl]-4-(3-phenylpropyl)piperazinediium dichloride

C28H36Cl2N2O

GBR 12935 dihydrochloride

10p11.21p12.31 microdeletion syndrome

http://www.orpha.net/ORDO/Orphanet_284169


parents

Partial deletion of the short arm of chromosome 10

Genetic multiple congenital anomalies/dysmorphic syndrome - variable intellectual disability


synonyms

10p12p11 microdeletion syndrome

Del(10)(p11.21p12.31)

Deletion 10p11.21p12.31

Monosomy 10p11.21p12.31

10q22.3q23.3 microdeletion syndrome

http://www.orpha.net/ORDO/Orphanet_276413


parents

Partial monosomy of the long arm of chromosome 10


synonyms

Del(10)(q22.3q23.3)

Deletion 10q22.3q23.3

Monosomy 10q22.3q23.3

10q22.3q23.3 microduplication syndrome

http://www.orpha.net/ORDO/Orphanet_276422


parents

Partial duplication of the long arm of chromosome 10


synonyms

Dup(10)(q22.3q23.3)

Trisomy 10q22.3q23.3

10-trans,12-cis-octadecadienoic acid

http://purl.obolibrary.org/obo/CHEBI_44526

"An octadeca-10,12-dienoic acid having 10-trans,12-cis-configuration." []


parents

acid


synonyms

(E,Z)-octadeca-10,12-dienoic acid

(E,Z)-octadeca-10,12-dienoic acid

10,12-trans,cis-octadecanoic acid

10,12-trans,cis-octadecanoic acid

10-trans-12-cis-CLA

10-trans-12-cis-CLA

10-trans-12-cis-conjugated linoleic acid

10-trans-12-cis-conjugated linoleic acid

10-trans-12-cis-linoleic acid

10-trans-12-cis-linoleic acid

10-trans-12-cis-octadecadienoic acid

10-trans-12-cis-octadecadienoic acid

C18:2, n-6,8 cis,trans

C18:2, n-6,8 cis,trans

trans-10,cis-12-conjugated linoleic acid

1182-4H

http://www.ebi.ac.uk/efo/EFO_0005648

This line was haploid when it was established. Like other lines, it may go back in forth in ploidy (by factors of two), depending on the growth conditions and the general health of the cells.


parents

ENCODE cell line

Drosophila melanogaster cell line

embryonic cell line


synonyms

1180 4H

11824H

11p15.4 microduplication syndrome

http://www.orpha.net/ORDO/Orphanet_300305


parents

Multiple congenital anomalies/dysmorphic syndrome-intellectual disability

Partial duplication of the short arm of chromosome 11

Overgrowth syndrome


synonyms

Dup(11)p(15.4)

Trisomy 11p15.4

1205-Lu

http://www.ebi.ac.uk/efo/EFO_0002810

A 1205 lu is a cell line. A 1205 lu is both something that is bearer of a melanoma, and something that derives from a homo sapiens.


parents

melanoma cell line

Homo sapiens cell line

129/Sv

http://www.ebi.ac.uk/efo/EFO_0000599

129/Sv is a substrain of the mouse strain 129 as described in Jackson Laboratory http://www.informatics.jax.org/mgihome/nomen/strain_129.shtml


parents

129 mouse strain

129 mouse strain

http://www.ebi.ac.uk/efo/EFO_0000597

129 is a mouse strain as described in Jackson Laboratory http://www.informatics.jax.org/mgihome/nomen/strain_129.shtml


parents

Mus musculus


children

129/Sv

129P1/ReJ

129S1/SvImJ

129S6

129X1/SvJ

129xC57BL/6

129P1/ReJ

http://www.ebi.ac.uk/efo/EFO_0001331


parents

129 mouse strain

129S1/SvImJ

http://www.ebi.ac.uk/efo/EFO_0001332


parents

129 mouse strain

129S6

http://www.ebi.ac.uk/efo/EFO_0000598

129S6 is a substrain of the mouse strain 129 as described in Jackson Laboratory http://www.informatics.jax.org/mgihome/nomen/strain_129.shtml


parents

129 mouse strain


synonyms

129S6/SvEvTac

129X1/SvJ

http://www.ebi.ac.uk/efo/EFO_0000600

129X1/SvJ is a substrain of the mouse strain 129 as described in Jackson Laboratory http://jaxmice.jax.org/strain/000691.html Note this strain was formerly called 129X1


parents

129 mouse strain


synonyms

129X1

129xC57BL/6

http://www.ebi.ac.uk/efo/EFO_0000601

129xC57BL/6 is a substrain of the mouse strain 129 as described in article PUBMED ID 15015938


parents

129 mouse strain


children

IR (lox/lox)

12p12.1 microdeletion syndrome

http://www.orpha.net/ORDO/Orphanet_313884


parents

Partial deletion of the short arm of chromosome 12


synonyms

Del(12)(p12.1)

Monosomy 12p12.1

12q14 microdeletion syndrome

http://www.orpha.net/ORDO/Orphanet_94063


parents

Rare genetic intellectual disability with developmental anomaly

Partial deletion of the long arm of chromosome 12

Primary bone dysplasia with increased bone density


synonyms

Del(12)(q14)

Deletion 12q14

Monosomy 12q14

Osteopoikilosis - short stature - intellectual disability

12q15q21.1 microdeletion syndrome

http://www.orpha.net/ORDO/Orphanet_289513


parents

Partial deletion of the long arm of chromosome 12


synonyms

Del(12)(q15)(q21.1)

Deletion 12q15q21.1

Monosomy 12q15q21.1

1-4-dioxane

http://purl.obolibrary.org/obo/CHEBI_47032

A dioxane that has formula C4H8O2.

Complement component-4 (1744 aa, ~193 kDa) is part of the complement cascade, which mediates the innate immune response to infection. The full length protein is a precursor that can is secreted as a trimeric molecule containing an alpha, beta and gamma chain. When the complement cascade is initiated, the protein is cleaved. This proteolysis releases both the alpha chain, C4 anaphylatoxin, which stimulates inflammation, and a dimer of the beta and gamma chains, which mediates the interaction between the antigen-antibody complex and other complement components.

The determination of the amount of complement C4 present in a sample.


parents

chemical compound


synonyms

1,4-DIETHYLENE DIOXIDE

1,4-dioxacyclohexane

1,4-dioxane

C1COCCO1

C4H8O2

Complement C4

Complement Component-4

di(ethylene oxide)

Dioxan-1,4

glycol ethylene ether

InChI=1/C4H8O2/c1-2-6-4-3-5-1/h1-4H2

InChIKey=RYHBNJHYFVUHQT-UHFFFAOYAN

p-Dioxane

tetrahydro-1,4-dioxin

tetrahydro-para-dioxin

tetrahydro-p-dioxin

14q11.2 microdeletion syndrome

http://www.orpha.net/ORDO/Orphanet_261120

14q11.2 microdeletion syndrome is a recently described syndrome characterized by developmental delay, hypotonia and facial dysmorphism.


parents

Partial deletion of the long arm of chromosome 14


synonyms

Del(14)(q11.2)

Monosomy 14q11.2

14q11.2 microduplication syndrome

http://www.orpha.net/ORDO/Orphanet_261229


parents

Partial duplication of the long arm of chromosome 14


synonyms

Dup(14)(q11.2)

Trisomy 14q11.2

14q12 microdeletion syndrome

http://www.orpha.net/ORDO/Orphanet_261144

14q12 microdeletion syndrome is a recently described syndrome characterized by severe intellectual deficit, with a normal neonatal period, followed by a phase of regression at the age of 3-6 months.


parents

Partial deletion of the long arm of chromosome 14


synonyms

Del(14)(q12)

Monosomy 14q12

14q22q23 microdeletion syndrome

http://www.orpha.net/ORDO/Orphanet_264200


parents

Partial deletion of the long arm of chromosome 14

Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability


synonyms

14q22-q23 microdeletion syndrome

Del(14)(q22q23)

Monosomy 14q22q23

Monosomy 14q22-q23

14q24.1q24.3 microdeletion syndrome

http://www.orpha.net/ORDO/Orphanet_401935


parents

Multiple congenital anomalies/dysmorphic syndrome-intellectual disability

Rare genetic intellectual disability with developmental anomaly

Partial deletion of the long arm of chromosome 14


synonyms

Del(14)(q24.1q24.3)

Monosomy 14q24.1q24.3

15q11.2 microdeletion syndrome

http://www.orpha.net/ORDO/Orphanet_261183


parents

Partial deletion of the long arm of chromosome 15


synonyms

Del(15)(q11.2)

Monosomy 15q11.2

15q11q13 microduplication syndrome

http://www.orpha.net/ORDO/Orphanet_238446

The 15q11-q13 microduplication (dup15q11-q13) syndrome is characterized by neurobehavioral disorders, hypotonia, cognitive deficit, language delay and seizures. Prevalence is unknown.


parents

Partial duplication of the long arm of chromosome 15


synonyms

15q11q13 duplication syndrome

15q11-q13 duplication syndrome

15q11-q13 microduplication syndrome

Dup(15)(q11q13)

Trisomy 15q11q13

Trisomy 15q11-q13

15q13.3 microdeletion syndrome

http://www.orpha.net/ORDO/Orphanet_199318

15q13.3 microdeletion (microdel15q13.3) syndrome is characterized by a wide spectrum of neurodevelopmental disorders with no or subtle dysmorphic features.


parents

Multiple congenital anomalies/dysmorphic syndrome-intellectual disability

Partial deletion of the long arm of chromosome 15


synonyms

Del(15)(q13.3)

Monosomy 15q13.3

15q14 microdeletion syndrome

http://www.orpha.net/ORDO/Orphanet_261190

15q14 microdeletion syndrome is a recently described syndrome characterized by developmental delay, short stature and facial dysmorphism.


parents

Partial deletion of the long arm of chromosome 15


synonyms

Del(15)(q14)

Monosomy 15q14

15q24 microdeletion syndrome

http://www.orpha.net/ORDO/Orphanet_94065

15q24 microdeletion syndrome is a rare chromosomal anomaly characterized cytogenetically by a 1.7-6.1 Mb deletion in chromosome 15q24 and clinically by pre- and post-natal growth retardation, intellectual disability, distinct facial features, and genital, skeletal, and digital anomalies.


parents

Multiple congenital anomalies/dysmorphic syndrome-intellectual disability

Rare genetic intellectual disability with developmental anomaly

Partial deletion of the long arm of chromosome 15


synonyms

Del(15)(q24)

Monosomy 15q24

15q overgrowth syndrome

http://www.orpha.net/ORDO/Orphanet_314585


parents

Multiple congenital anomalies/dysmorphic syndrome-intellectual disability

Partial duplication of the long arm of chromosome 15


children

Distal tetrasomy 15q

Distal trisomy 15q

16-ketoestradiol

http://purl.obolibrary.org/obo/CHEBI_34165


parents

chemical compound

16p11.2p12.2 microdeletion syndrome

http://www.orpha.net/ORDO/Orphanet_261211

16p11.2-p12.2 microdeletion syndrome is a recently described syndrome characterized by developmental delay and facial dysmorphism.


parents

Partial deletion of the short arm of chromosome 16


synonyms

16p11.2-p12.2 microdeletion syndrome

Del(16)(p11.2p12.2)

Monosomy 16p11.2p12.2

Monosomy 16p11.2-p12.2

16p11.2p12.2 microduplication syndrome

http://www.orpha.net/ORDO/Orphanet_261204


parents

Partial duplication of the short arm of chromosome 16


synonyms

Dup(16)(p11.2p12.2)

Trisomy 16p11.2p12.2

16p13.11 microdeletion syndrome

http://www.orpha.net/ORDO/Orphanet_261236

16p13.11 microdeletion syndrome is a recently described syndrome characterized by developmental delay, microcephaly, epilepsy, short stature, facial dysmorphism and behavioral problems.


parents

Partial deletion of the short arm of chromosome 16


synonyms

Del(16)(p13.11)

Monosomy 16p13.11

16p13.11 microduplication syndrome

http://www.orpha.net/ORDO/Orphanet_261243

16p13.11 microduplication syndrome is a recently described syndrome associated with variable clinical features including behavioral abnormalities, developmental delay, congenital heart defects and skeletal anomalies.


parents

Partial duplication of the short arm of chromosome 16


synonyms

Dup(16)(p13.11)

Trisomy 16p13.11

16p13.3 microduplication syndrome

http://www.orpha.net/ORDO/Orphanet_96078


parents

Partial duplication of the short arm of chromosome 16


synonyms

Distal duplication 16p

Distal trisomy 16p

Dup(16)(p13.3)

Telomeric duplication 16p

Trisomy 16pter

16q24.1 microdeletion syndrome

http://www.orpha.net/ORDO/Orphanet_352629


parents

Partial deletion of the long arm of chromosome 16

Genetic interstitial lung disease


synonyms

Del(16)(q24.1)

Monosomy 16q24.1

16q24.3 microdeletion syndrome

http://www.orpha.net/ORDO/Orphanet_261250

16q24.3 microdeletion syndrome is a recently described syndrome associated with variable developmental delay, facial dysmorphism, seizures and autistic spectrum disorder.


parents

Partial deletion of the long arm of chromosome 16


synonyms

Del(16)(q24.3)

Monosomy 16q24.3

17alpha-estradiol

http://purl.obolibrary.org/obo/CHEBI_17160


parents

chemical compound


synonyms

17alpha-Estradiol

alpha-estradiol

C18H24O2

estra-1,3,5(10)trien-3,17alpha-diol

estra-1,3,5(10)-triene-3,17alpha-diol

Estradiol-17alpha

17alpha-ethynylestradiol

http://purl.obolibrary.org/obo/CHEBI_4903


parents

chemical compound


synonyms

17a-ethynylestradiol

17alpha-Ethinyl estradiol

17alpha-ethynylestra-1,3,5(10)-triene-3,17beta-diol

17-ethinyl-3,17-estradiol

17-ethinyl-3,17-oestradiol

17-ethinylestradiol

C20H24O2

Ethinylestradiol

Ethinyl estradiol

ethinyloestradiol

Ethynyl estradiol

17beta-estradiol

http://purl.obolibrary.org/obo/CHEBI_16469


parents

estradiol


synonyms

(17beta)-estra-1,3,5(10)-triene-3,17-diol

17beta-estra-1,3,5(10)-triene-3,17-diol

17beta-estradiol

17beta oestradiol

17beta-oestradiol

beta-Estradiol

C18H24O2

cis-estradiol

estra-1,3,5(10)-triene-3,17beta-diol

Estradiol

ESTRADIOL

Estradiol-17beta

17beta-hydroxy-5alpha-androstan-3-one

http://purl.obolibrary.org/obo/CHEBI_16330

An androgen that has formula C19H30O2.


parents

hormone


synonyms

[H][C@@]12CC[C@@]3([H])[C@]4([H])CC[C@H](O)[C@@]4(C)CC[C@]3([H])[C@@]1(C)CCC(=O)C2

17beta-hydroxyandrostan-3-one

5alpha-Dihydrotestosterone

androstanolona

Androstanolone

androstanolonum

C19H30O2

Dihydrotestosteron

DIHYDROTESTOSTERONE

dihydrotestoterone

InChI=1/C19H30O2/c1-18-9-7-13(20)11-12(18)3-4-14-15-5-6-17(21)19(15,2)10-8-16(14)18/h12,14-17,21H,3-11H2,1-2H3/t12-,14-,15-,16-,17-,18-,19-/m0/s1

InChIKey=NVKAWKQGWWIWPM-ABEVXSGRBZ

Stanolone

17p11.2 microduplication syndrome

http://www.orpha.net/ORDO/Orphanet_1713


parents

Partial duplication of the short arm of chromosome 17


synonyms

Potocki-Lupski syndrome

Trisomy 17p11.2

17p13.3 microduplication syndrome

http://www.orpha.net/ORDO/Orphanet_217385

17p13.3 microduplication syndrome is characterized by variable psychomotor delay and dysmorphic features.


parents

Multiple congenital anomalies/dysmorphic syndrome-intellectual disability

Partial duplication of the short arm of chromosome 17


synonyms

17p13.3 duplication syndrome

Dup(17)(p13.3)

Trisomy 17p13.3

17q11.2 microduplication syndrome

http://www.orpha.net/ORDO/Orphanet_139474

17q11.2 microduplication syndrome is characterized by dysmorphic features and intellectual deficit.


parents

Rare genetic intellectual disability with developmental anomaly

Partial duplication of the long arm of chromosome 17


synonyms

Dup(17)(q11.2)

Grisart-Destrée syndrome

Trisomy 17q11.2

17q11 microdeletion syndrome

http://www.orpha.net/ORDO/Orphanet_97685

17q11 microdeletion syndrome is a rare severe form of Neurofibromatosis type 1 (NF1; see this term) characterized by mild facial dysmorphism, developmental delay, intellectual disability, increased risk of malignancies and a large number of neurofibromas.


parents

Partial deletion of the long arm of chromosome 17

Neurofibromatosis type 1


synonyms

Del(17)(q11)

Monosomy 17q11

Neurofibromatosis type 1 microdeletion syndrome

NF1 microdeletion syndrome

17q12 microdeletion syndrome

http://www.orpha.net/ORDO/Orphanet_261265


parents

Partial deletion of the long arm of chromosome 17


synonyms

Del(17)(q12)

Monosomy 17q12

17q12 microduplication syndrome

http://www.orpha.net/ORDO/Orphanet_261272


parents

Partial duplication of the long arm of chromosome 17


synonyms

Dup(17)(q12)

Trisomy 17q12

17q21.31 microdeletion syndrome

http://www.orpha.net/ORDO/Orphanet_363958


parents

Partial deletion of the long arm of chromosome 17

Koolen-De Vries syndrome


synonyms

Del(17)(q21.31)

Monosomy 17q21.31

17q21.31 microduplication syndrome

http://www.orpha.net/ORDO/Orphanet_217340

The newly described 17q21.31 microduplication syndrome is associated with a broad clinical spectrum, of which behavioral disorders and poor social interaction seem to be the most consistent.


parents

Multiple congenital anomalies/dysmorphic syndrome-intellectual disability

Partial duplication of the long arm of chromosome 17


synonyms

Dup(17)(q21.31)

Trisomy 17q21.31

17q23.1q23.2 microdeletion syndrome

http://www.orpha.net/ORDO/Orphanet_261279

17q23.1q23.2 microdeletion syndrome is a recently described syndrome characterized by developmental delay, microcephaly, short stature, heart defects and limb abnormalities.


parents

Partial deletion of the long arm of chromosome 17


synonyms

17q23.1-q23.2 microdeletion syndrome

Del(17)(q23.1q23.2)

Monosomy 17q23.1q23.2

Monosomy 17q23.1-q23.2

184A1N4 cell

http://purl.obolibrary.org/obo/BTO_0002179

"The 184A1N4 and 184B5 cell lines are nontumorigenic cell lines derived from primary cultures of HMECs that were immortalized with benzo(a)pyrene." [PMID:15827326]


parents

mammary gland cell line


synonyms

A1N4 cell

A1N4 cell

184B5 cell

http://purl.obolibrary.org/obo/BTO_0002180

"The 184A1N4 and 184B5 cell lines are nontumorigenic cell lines derived from primary cultures of HMECs that were immortalized with benzo(a)pyrene." [PMID:15827326]


parents

mammary gland cell line

19p13.12 microdeletion syndrome

http://www.orpha.net/ORDO/Orphanet_254346

19p13.12 microdeletion syndrome is a newly described syndrome characterized by moderate to severe developmental delay, language delay, bilateral sensorineural and/or conductive hearing loss and facial dysmorphism.


parents

Partial deletion of the short arm of chromosome 19


synonyms

Del(19)(p13.12)

Monosomy 19p13.12

19p13.13 microdeletion syndrome

http://www.orpha.net/ORDO/Orphanet_357001


parents

Multiple congenital anomalies/dysmorphic syndrome-intellectual disability

Rare genetic intellectual disability with developmental anomaly

Partial deletion of the short arm of chromosome 19


synonyms

Del(19)(p13.13)

Monosomy 19p13.13

19q13.11 microdeletion syndrome

http://www.orpha.net/ORDO/Orphanet_217346

The 19q13.11 microdeletion is characterized by several major features including pre and postnatal growth retardation, slender habitus, severe postnatal feeding difficulties, microcephaly, intellectual deficit with speech disturbance, hypospadias and ectodermal dysplasia presented by scalp aplasia, thin and sparse hair, eyebrows and eyelashes, thin and dry skin and dysplasic nails.


parents

Multiple congenital anomalies/dysmorphic syndrome-intellectual disability

Partial deletion of the long arm of chromosome 19


synonyms

Del(19)(q13.11)

Monosomy 19q13.11

1A2

http://www.ebi.ac.uk/efo/EFO_0002094


parents

Burkitt lymphoma cell

haemopoietic system cell line

Homo sapiens cell line

1-aminocyclopropane-1-carboxylic acid

http://purl.obolibrary.org/obo/CHEBI_18053

A alpha-amino acid consisting of cyclopropane having amino and carboxy substituents both at the 1-position.

An alpha-amino acid that has formula C4H7NO2.

Complement component-4 (1744 aa, ~193 kDa) is part of the complement cascade, which mediates the innate immune response to infection. The full length protein is a precursor that can is secreted as a trimeric molecule containing an alpha, beta and gamma chain. When the complement cascade is initiated, the protein is cleaved. This proteolysis releases both the alpha chain, C4 anaphylatoxin, which stimulates inflammation, and a dimer of the beta and gamma chains, which mediates the interaction between the antigen-antibody complex and other complement components.

The determination of the amount of complement C4 present in a sample.


parents

acid


synonyms

1-aminocyclopropanecarboxylic acid

C4H7NO2

Complement C4

Complement Component-4

InChI=1/C4H7NO2/c5-4(1-2-4)3(6)7/h1-2,5H2,(H,6,7)/f/h6H

InChIKey=PAJPWUMXBYXFCZ-BRMMOCHJCR

NC1(CC1)C(O)=O

1-benzofuran

http://purl.obolibrary.org/obo/CHEBI_35260

A benzofuran that has formula C8H6O.


parents

chemical compound


synonyms

2,3-benzofuran

benzo[b]furan

Benzofuran

c1ccc2occc2c1

C8H6O

coumaron

coumarone

cumarone

InChI=1/C8H6O/c1-2-4-8-7(3-1)5-6-9-8/h1-6H

InChIKey=IANQTJSKSUMEQM-UHFFFAOYAU

1-fluoro-2,4-dinitrobenzene

http://purl.obolibrary.org/obo/CHEBI_53049

A fluorobenzene compound with two nitro substituents in the 2- and 4-positions.


parents

chemical compound


synonyms

[O-][N+](=O)c1ccc(F)c(c1)[N+]([O-])=O

1,2,4-Fluorodinitrobenzene

2,4-Dinitro-1-fluorobenzene

2,4-Dinitrobenzenefluoride

2,4-Dinitrofluorobenzene

2,4-Dinitrophenyl fluoride

2,4-DNFB

C6H3FN2O4

DFB

Dinitrofluorobenzene

DNFB

FDNB

Fluoro-2,4-dinitrobenzene

Fluorodinitrobenzene

InChI=1/C6H3FN2O4/c7-5-2-1-4(8(10)11)3-6(5)9(12)13/h1-3H

InChIKey=LOTKRQAVGJMPNV-UHFFFAOYAZ

1 main shoot growth stage

http://purl.obolibrary.org/obo/PO_0007112

The stage at which vegetative structures are being produced by SAM.


parents

sporophyte development stage


children

leaf production stage

rosette growth stage

1-naphthylacetic acid

http://purl.obolibrary.org/obo/CHEBI_32918

A naphthylacetic acid that has formula C12H10O2.


parents

acid


synonyms

1-naphthaleneacetic acid

alpha-NAA

alpha-naphthaleneacetic acid

C12H10O2

InChI=1/C12H10O2/c13-12(14)8-10-6-3-5-9-4-1-2-7-11(9)10/h1-7H,8H2,(H,13,14)/f/h13H

InChIKey=PRPINYUDVPFIRX-NDKGDYFDCS

NAA

naphthalen-1-ylacetic acid

NAPHTHALEN-1-YL-ACETIC ACID

naphthalene-1-acetic acid

OC(=O)Cc1cccc2ccccc12

1-naphthyl isothiocyanate

http://purl.obolibrary.org/obo/CHEBI_35455


parents

chemical compound


synonyms

1-isothiocyanatonaphthalene

1-Naphthylisothiocyanate

alpha-Naphthyl isothiocyanate

ANIT

InChI=1/C11H7NS/c13-8-12-11-7-3-5-9-4-1-2-6-10(9)11/h1-7H

InChIKey=JBDOSUUXMYMWQH-UHFFFAOYAA

S=C=Nc1cccc2ccccc12

1p21.3 microdeletion syndrome

http://www.orpha.net/ORDO/Orphanet_293948

1p21.3 microdeletion syndrome is an extremely rare chromosomal anomaly characterized by severe speech and language delay, intellectual deficiency, autism spectrum disorder(see this term).


parents

Rare disease with autism

Partial deletion of the short arm of chromosome 1


synonyms

Del(1)p(21.3)

Monosomy 1p21.3

1p31p32 microdeletion syndrome

http://www.orpha.net/ORDO/Orphanet_401986


parents

Partial deletion of the short arm of chromosome 1

Genetic multiple congenital anomalies/dysmorphic syndrome - variable intellectual disability


synonyms

Del(1)(p31p32)

Monosomy 1p31p32

1p36 deletion syndrome

http://www.orpha.net/ORDO/Orphanet_1606

1p36 deletion syndrome is a chromosomal anomaly characterized by distinctive facial dysmorphic features, hypotonia, developmental delay, intellectual disability, seizures, heart defects, hearing impairment and prenatal onset growth deficiency.


parents

Syndrome associated with dilated cardiomyopathy

Partial deletion of the short arm of chromosome 1


synonyms

Del(1)(p36)

Deletion 1p36

Deletion 1pter

Monosomy 1p36

Monosomy 1pter

Subtelomeric 1p36 deletion

1q21.1 microdeletion syndrome

http://www.orpha.net/ORDO/Orphanet_250989

1q21.1 microdeletion syndrome is a newly described recurrent deletion syndrome with variable clinical manifestations but without the clinical picture of thrombocytopenia - absent radius (TAR) syndrome.


parents

Partial deletion of the long arm of chromosome 1


synonyms

Del(1)(q21)

Monosomy 1q21.1

1q21.1 microduplication syndrome

http://www.orpha.net/ORDO/Orphanet_250994


parents

Partial duplication of the long arm of chromosome 1


synonyms

Dup(1)(q21.1)

Trisomy 1q21.1

1q41q42 microdeletion syndrome

http://www.orpha.net/ORDO/Orphanet_250999

1q41q42 microdeletion syndrome is a chromosomal anomaly characterized by a severe developmental delay and/or intellectual disability, typical facial dysmorphic features, brain anomalies, seizures, cleft palate, clubfeet, nail hypoplasia and congenital heart disease.


parents

Partial deletion of the long arm of chromosome 1


synonyms

1q41-q42 microdeletion syndrome

Del(1)(q41q42)

Monosomy 1q41q42

Monosomy 1q41-q42

1q44 microdeletion syndrome

http://www.orpha.net/ORDO/Orphanet_238769

1q44 microdeletion syndrome is a newly described syndrome associated with facial dysmorphism, developmental delay, in particular of expressive speech, seizures and hypotonia.


parents

Partial deletion of the long arm of chromosome 1


synonyms

Del(1)(q44)

Monosomy 1q44

2,2'-bipyridine

http://purl.obolibrary.org/obo/CHEBI_30351

A bipyridine that has formula C10H8N2.


parents

chemical compound


synonyms

2,2'-Bipyridin

2,2'-bipyridyl

2,2'-dipyridine

2,2'-dipyridyl

2-(2-pyridyl)pyridine

alpha,alpha'-bipyridine

alpha,alpha'-bipyridyl

alpha,alpha'-dipyridine

alpha,alpha'-dipyridyl

bpy

C10H8N2

c1ccc(nc1)-c1ccccn1

InChI=1/C10H8N2/c1-3-7-11-9(5-1)10-6-2-4-8-12-10/h1-8H

InChIKey=ROFVEXUMMXZLPA-UHFFFAOYAP

2,3,7,8-tetrachlorodibenzodioxine

http://purl.obolibrary.org/obo/CHEBI_28119


parents

chemical compound


synonyms

2,3,7,8-Tetrachlorodibenzodioxin

2,3,7,8-Tetrachlorodibenzo-p-dioxin

2,3,7,8-tetrachlorooxanthrene

C12H4Cl4O2

Dioxin

dioxine

TCDD

Tetrachlorodibenzodioxin

tetradioxin

2,3-bis(4-hydroxyphenyl)propionitrile

http://purl.obolibrary.org/obo/CHEBI_63949


parents

chemical compound


synonyms

2,3-bis(4-hydroxyphenyl)propanenitrile

2,3-bis(4-hydroxyphenyl)-propionitrile

2,3-bis(p-hydroxyphenyl)propionitrile

C15H13NO2

2,3-dimethoxynaphthalene-1,4-dione

http://purl.obolibrary.org/obo/CHEBI_64215


parents

chemical compound


synonyms

2,3-dimethoxy-1,4-naphthalenedione

2,3-dimethoxy-1,4-naphthoquinone

C12H10O4

DMNQ

NSC 69355

2,4,6-trinitrotoluene

http://purl.obolibrary.org/obo/CHEBI_46053


parents

chemical compound


synonyms

1-methyl-2,4,6-trinitrobenzene

2,4,6-TNT

2,4,6-trinitrotoluene

2,4,6-Trinitrotoluol

2-methyl-1,3,5-trinitrobenzene

alpha-TNT

C7H5N3O6

s-trinitrotoluene

s-Trinitrotoluol

sym-Trinitrotoluol

TNT

Trinitrotoluen

trinitrotoluene

Trinitrotoluol

Tritol

Trotyl

2,4-dichlorophenol

http://purl.obolibrary.org/obo/CHEBI_16738

A dichlorophenol that has formula C6H4Cl2O.

The sixth of the seven cervical vertebrae.


parents

chemical compound


synonyms

C6H4Cl2O

C6 Vertebra

DCP

InChI=1/C6H4Cl2O/c7-4-1-2-6(9)5(8)3-4/h1-3,9H

InChIKey=HFZWRUODUSTPEG-UHFFFAOYAU

Oc1ccc(Cl)cc1Cl

2,4-dinitrophenol

http://purl.obolibrary.org/obo/CHEBI_42017

A dinitrophenol having the nitro groups at the 2- and 4-positions.

Any of the six isomers consisting of phenol where two hydrogen atoms are substituted by nitro groups.

The sixth of the seven cervical vertebrae.


parents

chemical compound


synonyms

1-hydroxy-2,4-dinitrobenzene

2,4-DNP

alpha-dinitrophenol

C6H4N2O5

C6 Vertebra

dinitrophenol; DNP

InChI=1/C6H4N2O5/c9-6-2-1-4(7(10)11)3-5(6)8(12)13/h1-3,9H

InChIKey=UFBJCMHMOXMLKC-UHFFFAOYAV

Oc1ccc(cc1N(=O)=O)N(=O)=O

2-\{[(2E)-3-iodoprop-2-en-1-yl](propyl)amino\}tetralin-7-ol maleate

http://purl.obolibrary.org/obo/CHEBI_64134


parents

chemical compound


synonyms

2-{[(2E)-3-iodoallyl](propyl)amino}tetralin-7-ol maleate

7-{[(2E)-3-iodoprop-2-en-1-yl](propyl)amino}-5,6,7,8-tetrahydronaphthalen-2-ol (2Z)-but-2-enedioate

7-{[(2E)-3-iodoprop-2-en-1-yl](propyl)amino}-5,6,7,8-tetrahydronaphthalen-2-ol maleate

7-hydroxy-N-[(2E)-3-iodoprop-2-en-1-yl]-N-propyl-1,2,3,4-tetrahydronaphthalen-2-aminium (2Z)-3-carboxyacrylate

7-hydroxy-PIPAT maleate

C20H26INO5

20-hydroxyecdysone

http://purl.obolibrary.org/obo/CHEBI_16587

A 20-hydroxy steroid that has formula C27H44O7.

Encoded by human CYP8B1 Gene (Cytochrome P450 Family), 501-aa 58-kDa Cytochrome P450 8B1 is a liver endoplasmic reticulum membrane P450 heme-thiolate monooxygenase involved in bile acid synthesis that catalyzes conversion of 7 alpha-hydroxy-4-cholesten-3-one into 7-alpha,12-alpha-dihydroxy-4-cholesten-3-one. The balance between these steroids determines the relative amount of cholic and chenodeoxycholic acids secreted in the bile that affect cholesterol solubility. CYP8B1 has broad substrate specificity including 7-alpha-hydroxylated C27 steroids. P450 enzymes catalyze reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. (NCI)


parents

chemical compound


synonyms

(22R)-2beta,3beta,14alpha,20,22,25-hexahydroxy-5beta-cholest-7-en-6-one

[H][C@]12CC[C@]3(C)[C@]([H])(CC[C@@]3(O)C1=CC(=O)[C@]1([H])C[C@@H](O)[C@@H](O)C[C@]21C)[C@@](C)(O)[C@H](O)CCC(C)(C)O

20-OH ecdysone

7 Alpha-Hydroxy-4-Cholesten-3-One 12-Alpha-Hydroxylase

C27H44O7

CYP8B1

CYPVIIIB1

Cytochrome P450 8B1

Cytochrome P450 CYP8B1

Cytochrome P450 Family 8 Subfamily B Polypeptide 1

Cytochrome P450 Subfamily VIIIB (Sterol 12-Alpha-Hydroxylase) Polypeptide 1

ecdysterone; 20E

InChI=1/C27H44O7/c1-23(2,32)9-8-22(31)26(5,33)21-7-11-27(34)16-12-18(28)17-13-19(29)20(30)14-24(17,3)15(16)6-10-25(21,27)4/h12,15,17,19-22,29-34H,6-11,13-14H2,1-5H3/t15-,17-,19+,20-,21-,22+,24+,25+,26+,27+/m0/s1

InChIKey=NKDFYOWSKOHCCO-YPVLXUMRBN

Steroid 12-Alpha-Hydroxylase

Sterol 12 Alpha Hydroxylase

20p12.3 microdeletion syndrome

http://www.orpha.net/ORDO/Orphanet_261295

20p12.3 microdeletion syndrome is a recently described syndrome characterized by Wolff-Parkinson-White syndrome (see this term), variable developmental delay and facial dysmorphism.


parents

Partial monosomy of the short arm of chromosome 20


synonyms

Del(20)(p12.3)

Monosomy 20p12.3

20p13 microdeletion syndrome

http://www.orpha.net/ORDO/Orphanet_313781


parents

Multiple congenital anomalies/dysmorphic syndrome-intellectual disability

Partial monosomy of the short arm of chromosome 20


synonyms

20p subtelomeric deletion syndrome

Del(20)(p13)

Monosomy 20p13

20q11.2 microduplication syndrome

http://www.orpha.net/ORDO/Orphanet_363659


parents

Multiple congenital anomalies/dysmorphic syndrome-intellectual disability

Rare genetic intellectual disability with developmental anomaly

Partial trisomy of the long arm of chromosome 20


synonyms

Dup(20)(q11.2)

20q13.33 microdeletion syndrome

http://www.orpha.net/ORDO/Orphanet_261311


parents

Partial deletion of the long arm of chromosome 20


synonyms

Del(20)(q13.33)

Monosomy 20q13.33

2102Ep

http://www.ebi.ac.uk/efo/EFO_0002957

2102ep is an embryonal cell line


parents

cancer cell line

Homo sapiens cell line

embryonic cell line

21q22.11q22.12 microdeletion syndrome

http://www.orpha.net/ORDO/Orphanet_261323


parents

Partial deletion of the long arm of chromosome 21


synonyms

21q22.11-q22.12 microdeletion syndrome

Del(21)(q22.11q22.12)

Monosomy 21q22.11q22.12

Monosomy 21q22.11-q22.12

21q22.13q22.2 microdeletion syndrome

http://www.orpha.net/ORDO/Orphanet_268261


parents

Partial deletion of the long arm of chromosome 21


synonyms

21q22.13-q22.2 microdeletion syndrome

Del(21)(q22.13q22.2)

Monosomy 21q22.13q22.2

Monosomy 21q22.13-q22.2

22q11.2 deletion syndrome

http://www.orpha.net/ORDO/Orphanet_567

22q11.2 deletion syndrome (DS) is a chromosomal anomaly which causes a congenital malformation disorder whose common features include cardiac defects, palatal anomalies, facial dysmorphism, developmental delay and immune deficiency.


parents

Syndromic anorectal malformation

Pierre Robin syndrome associated with a chromosomal anomaly

Rare syndrome with cardiac malformations

Syndrome with hypoparathyroidism

Partial deletion of the long arm of chromosome 22

Genetic multiple congenital anomalies/dysmorphic syndrome - variable intellectual disability

Immunodeficiency due to absence of thymus

Syndromic genetic deafness

Syndromic renal or urinary tract malformation


synonyms

22q11DS

CATCH 22

Cayler cardiofacial syndrome

Conotruncal anomaly face syndrome

DiGeorge sequence

DiGeorge syndrome

Microdeletion 22q11.2

Monosomy 22q11

Sedlackova syndrome

Shprintzen syndrome

Takao syndrome

Velocardiofacial syndrome

22q11.2 microduplication syndrome

http://www.orpha.net/ORDO/Orphanet_1727

The newly described 22q11.2 microduplication syndrome (dup22q11 syndrome) is the association of a broad clinical spectrum and a duplication of the region that is deleted in patients with DiGeorge or velocardiofacial syndrome (DG/VCFS; see this term), establishing a complementary duplication syndrome.


parents

Partial duplication of the long arm of chromosome 22


synonyms

Dup(22)(q11)

Duplication 22q11.2

Trisomy 22q11.2

22Rv1

http://www.ebi.ac.uk/efo/EFO_0002095

A 22rv1 is a cell line. A 22rv1 is all of the following: something that is bearer of a prostate carcinoma, something that derives from a homo sapiens, and something that derives from a prostate.


parents

cancer cell line

Homo sapiens cell line

prostate derived cell line

267B1

http://www.ebi.ac.uk/efo/EFO_0001080

A 267b1 ki ras is a cell line. A 267b1 ki ras derives from a prostate.


parents

prostate derived cell line

267B1 Ki-ras

http://www.ebi.ac.uk/efo/EFO_0001081


parents

prostate derived cell line

293T

http://www.ebi.ac.uk/efo/EFO_0001082


parents

kidney derived cell line

293TsiLL

http://www.ebi.ac.uk/efo/EFO_0001083


parents

kidney derived cell line

2-acetylaminofluorene

http://purl.obolibrary.org/obo/CHEBI_17356

"An ortho-fused polycyclic arene that consists of 9H-fluorene bearing an acetamido substituent at position 2." []


parents

chemical compound


synonyms

2-AAF

2-AAF

2-acetamidofluorene

2-Acetamidofluorene

2-Acetamidofluorene

2-FAA

2-FAA

N-2-Fluorenylacetamide

N-2-Fluorenylacetamide

N-fluoren-2-ylacetamide

N-fluoren-2-ylacetamide

2-aminoadipic 2-oxoadipic aciduria

http://www.orpha.net/ORDO/Orphanet_79154


parents

Disorder of lysine and hydroxylysine metabolism


synonyms

Alpha-aminoadipic aciduria

2-butoxyethanol

http://purl.obolibrary.org/obo/CHEBI_63921


parents

chemical compound


synonyms

2-butoxyethanol

2-hydroxyethyl n-butyl ether

3-oxa-1-heptanol

BuOCH2CH2OH

butoxyethanol

butyl cellosolve

butyl glycol

butyl oxitol

C6H14O2

ethylene glycol butyl ether

ethylene glycol monobutyl ether

ethylene glycol mono-n-butyl ether

glycol butyl ether

n-butoxyethanol

O-butyl ethylene glycol

2-deoxy-D-glucose

http://purl.obolibrary.org/obo/CHEBI_15866

A deoxy glucose having a hydroxy group replaced by a hydrogen at position 2; an antimetabolite of glucose with antiviral activity, which acts by inhibiting the glycosylation of glycoproteins and glycolipids. Used as an antiherpes agent.

A deoxyglucose that has formula C6H12O5.


parents

chemical compound


synonyms

[H]C([H])(C=O)[C@@]([H])(O)[C@]([H])(O)[C@]([H])(O)CO

2-deoxy-D-arabino-hexopyranose

2-Deoxy-D-mannose

C6H12O5

D-2dGlc

D-arabino-2-Deoxyhexose

Deoxyglucose

InChI=1/C6H12O5/c7-2-1-4(9)6(11)5(10)3-8/h2,4-6,8-11H,1,3H2/t4-,5-,6+/m1/s1

InChIKey=VRYALKFFQXWPIH-PBXRRBTRBQ

2-hydroxyglutaric aciduria

http://www.orpha.net/ORDO/Orphanet_19

2-Hydroxyglutaric aciduria is a group of neurometabolic disorders with a wide clinical spectrum ranging from severe neonatal presentations to progressive forms, and asymptomatic cases, characterized biochemically by increased levels of 2-hydroxyglutaric acid in the plasma, cerebrospinal fluid and urine.


parents

Neurometabolic disease

Cerebral organic aciduria


children

D,L-2-hydroxyglutaric aciduria

D-2-hydroxyglutaric aciduria

L-2-hydroxyglutaric aciduria


synonyms

2-hydroxyglutaric acidemia

2-methyl-6-(phenylethynyl)pyridine hydrochloride

http://purl.obolibrary.org/obo/CHEBI_64158


parents

ionic salt


synonyms

2-methyl-6-(phenylethynyl)pyridine hydrochloride

2-methyl-6-(phenylethynyl)pyridinium chloride

6-methyl-2-(phenylethynyl)pyridine hydrochloride

6-methyl-2-(phenylethynyl)pyridinium chloride

C14H12ClN

MPEP hydrochloride

2-methylbutyryl-CoA dehydrogenase deficiency

http://www.orpha.net/ORDO/Orphanet_79157


parents

Neurometabolic disease

Classic organic aciduria


synonyms

2-methylbutyric aciduria

Developmental delay due to 2-methylbutyryl-CoA dehydrogenase deficiency

SBCAD deficiency

Short/branched-chain acyl-coA dehydrogenase deficiency

2-nitrofluorene

http://purl.obolibrary.org/obo/CHEBI_1224

A nitroarene that has formula C13H9NO2.

A radiolabelled urea molecule used to diagnose stomach ulcers caused by Heliobacter pylori. In the presence of H. pylori, urea C-13 is metabolized by urease to produce ammonia and radioactive carbon dioxide at the interface between the gastric epithelium and lumen. The radioactive carbon dioxide is absorbed in the blood and is detected when exhaled in the breath.


parents

chemical compound


synonyms

2-nitro-9H-fluorene

C13H9NO2

C13 Urea

Helicosol

InChI=1/C13H9NO2/c15-14(16)11-5-6-13-10(8-11)7-9-3-1-2-4-12(9)13/h1-6,8H,7H2

InChIKey=XFOHWECQTFIEIX-UHFFFAOYAJ

NF

Nitrofluorene

O=N(=O)c1ccc-2c(Cc3ccccc-23)c1

UREA, C-13

Urea C-13

2p13.2 microdeletion syndrome

http://www.orpha.net/ORDO/Orphanet_363680


parents

Multiple congenital anomalies/dysmorphic syndrome-intellectual disability

Rare genetic intellectual disability with developmental anomaly

Partial deletion of the short arm of chromosome 2


synonyms

Del(2)(p13.2)

2p15p16.1 microdeletion syndrome

http://www.orpha.net/ORDO/Orphanet_261349

2p15p16.1 microdeletion syndrome is a recently described syndrome characterized by developmental delay and facial dysmorphism.


parents

Partial deletion of the short arm of chromosome 2


synonyms

2p15-p16.1 microdeletion syndrome

Del(2)(p15p16.1)

Monosomy 2p15p16.1

Monosomy 2p15-p16.1

2p21 microdeletion syndrome

http://www.orpha.net/ORDO/Orphanet_163693

The 2p21 microdeletion syndrome consists of cystinuria, neonatal seizures, hypotonia, severe growthand developmental delay, facial dysmorphism, and lactic acidemia.


parents

Hypotonia - cystinuria type 1


synonyms

2p21 deletion

Del(2)(p21)

Monosomy 2p21

2p21 microdeletion syndrome without cystinuria

http://www.orpha.net/ORDO/Orphanet_369881


parents

Homozygous 2p21 microdeletion syndrome


synonyms

Del(2)(p21) without cystinuria

2q23.1 microdeletion syndrome

http://www.orpha.net/ORDO/Orphanet_228402

The newly described 2q23.1 microdeletion syndrome includes severe intellectual deficit with pronounced speech delay, behavioral abnormalities including hyperactivity and inappropriate laughter, short stature and seizures.


parents

Partial deletion of the long arm of chromosome 2


synonyms

Del(2)(q23.1)

Monosomy 2q23.1

Pseudo-Angelman syndrome

2q23.1 microduplication syndrome

http://www.orpha.net/ORDO/Orphanet_313947


parents

Rare genetic intellectual disability with developmental anomaly

Partial duplication of the long arm of chromosome 2


synonyms

Dup(2)(q23.1)

Trisomy 2q23.1

2q24 microdeletion syndrome

http://www.orpha.net/ORDO/Orphanet_1617

2q24 microdeletion syndrome is a chromosomal anomaly consisting of a partial long arm deletion of chromosome 2 and characterized clinically by a wide range of manifestations (depending on the specific region deleted) which can include seizures, microcephaly, dysmorphic features, cleft palate, eye abnormalities (coloboma, cataract and microphthalmia), growth retardation, failure to thrive, heart defects, limb anomalies, developmental delay and autism.


parents

Partial deletion of the long arm of chromosome 2


synonyms

Del(2)(q24)

Monosomy 2q24

2q31.1 microdeletion syndrome

http://www.orpha.net/ORDO/Orphanet_251014

2q31.1 microdeletion syndrome is a well-defined and clinically recognisable syndrome characterized by moderate to severe developmental delay, short stature, facial dysmorphism and variable limb defects.


parents

Partial deletion of the long arm of chromosome 2


synonyms

Del(2)(q31.1)

Monosomy 2q31.1

2q31.1 microduplication syndrome

http://www.orpha.net/ORDO/Orphanet_294026


parents

Partial duplication of the long arm of chromosome 2


synonyms

Dup(2)(q31.1)

Trisomy 2q31.1

2q32q33 microdeletion syndrome

http://www.orpha.net/ORDO/Orphanet_251019

2q32q33 microdeletion syndrome is a recently described syndrome characterized by a variable phenotype involving moderate to severe intellectual deficit, significant speech delay, persistent feeding difficulties, growth retardation and dysmorphic features.


parents

Partial deletion of the long arm of chromosome 2


synonyms

2q32-q33 microdeletion syndrome

Del(2)(q32)

Del(2)(q32q33)

Monosomy 2q32

Monosomy 2q32q33

Monosomy 2q32-q33

2q33.1 microdeletion syndrome

http://www.orpha.net/ORDO/Orphanet_251028


parents

Partial deletion of the long arm of chromosome 2


synonyms

Del(2)(q33.1)

Monosomy 2q33.1

2q37 microdeletion syndrome

http://www.orpha.net/ORDO/Orphanet_1001


parents

Partial deletion of the long arm of chromosome 2

Syndrome with brachydactyly


synonyms

Albright hereditary osteodystrophy-like syndrome

Albright hereditary osteodystrophy type 3

Brachydactyly-intellectual disability

Del(2)(q37)

Deletion 2q37

Deletion 2q37-qter

Monosomy 2q37-qter

3,3,4,4,5,5,6,6,7,7,8,8,9,9,10,10,10-heptadecafluoro-1-decanol

http://purl.obolibrary.org/obo/CHEBI_63919


parents

chemical compound


synonyms

1,1,2,2-Tetrahydroperfluoro-1-decanol

1H,1H,2H,2H-Perfluorodecanol

2-(perfluorooctyl)ethanol

2-perfluorooctylethanol

3,3,4,4,5,5,6,6,7,7,8,8,9,9,10,10,10-heptadecafluorodecan-1-ol

8:2 fluorotelomer alcohol

8:2 FTOH

C10H5F17O

3,3',4,4'-tetrachlorobiphenyl

http://purl.obolibrary.org/obo/CHEBI_1367

A synthetic form of the Ras peptide containing a point mutation at position 12 (glycine to cysteine) with potential antineoplastic activity. Vaccination with this peptide may stimulate the host immune system to mount a cytotoxic T lymphocyte (CTL) response against tumor cells positive for this Ras mutation, resulting in decreased tumor growth. (NCI04)

A tetrachlorobiphenyl that has formula C12H6Cl4.


parents

chemical compound


synonyms

3,3',4,4'-tetrachloro-1,1'-biphenyl

3,4,3',4'-Tetra coplanar polychlorinated biphenyl

C12H6Cl4

Clc1ccc(cc1Cl)-c1ccc(Cl)c(Cl)c1

InChI=1/C12H6Cl4/c13-9-3-1-7(5-11(9)15)8-2-4-10(14)12(16)6-8/h1-6H

InChIKey=UQMGJOKDKOLIDP-UHFFFAOYAU

Ras (sub 5-17) Peptide (C12)

Ras Peptide CYS

3,3',5-triiodo-L-thyronine

http://purl.obolibrary.org/obo/CHEBI_18258


parents

hormone


synonyms

3,3',5-triiodo-L-thyronine

3,5,3'-Triiodo-L-thyronine

3,5,3'TRIIODOTHYRONINE

3,5,3'-Triiodothyronine

4-(4-hydroxy-3-iodophenoxy)-3,5-diiodo-L-phenylalanine

C15H12I3NO4

L-3,5,3'-Triiodothyronine

liothyronine

Liothyronine

liothyroninum

liotironina

L-T3

O-(4-hydroxy-3-iodophenyl)-3,5-diiodo-L-tyrosine

T3

Tertroxin

Tresitope

Triiodothyronine

3',5'-cyclic AMP

http://purl.obolibrary.org/obo/CHEBI_17489

3',5'-cyclic purine nucleotide having having adenine as the nucleobase.

A 3',5'-cyclic purine nucleotide that has formula C10H12N5O6P.


parents

chemical compound


synonyms

(2R,4aR,6R,7R,7aS)-6-(6-amino-9H-purin-9-yl)tetrahydro-4H-furo[3,2-d][1,3,2]dioxaphosphinine-2,7-diol 2-oxide

adenosine 3',5'-(hydrogen phosphate)

ADENOSINE-3',5'-CYCLIC-MONOPHOSPHATE

Adenosine 3',5'-phosphate

C10H12N5O6P

cAMP

Cyclic adenylic acid

Cyclic AMP

InChI=1/C10H12N5O6P/c11-8-5-9(13-2-12-8)15(3-14-5)10-6(16)7-4(20-10)1-19-22(17,18)21-7/h2-4,6-7,10,16H,1H2,(H,17,18)(H2,11,12,13)/t4-,6-,7-,10-/m1/s1/f/h17H,11H2

InChIKey=IVOMOUWHDPKRLL-BJEHYBLCDS

Nc1ncnc2n(cnc12)[C@@H]1O[C@@H]2COP(O)(=O)O[C@H]2[C@H]1O

3'-amino-3'-deoxy-N(6),N(6)-dimethyladenosine

http://purl.obolibrary.org/obo/CHEBI_42839


parents

chemical compound


synonyms

3'-amino-3'-deoxy-N,N-dimethyladenosine

3'-Amino-3'-deoxy-N6,N6-dimethyladenosine

6-Dimethylamino-9-(3'-ribosylamine)purine

C12H18N6O3

Puromycin aminonucleoside

Stylomycin aminonucleoside

3-(5-fluorouracil-1-yl)-L-alanine

http://purl.obolibrary.org/obo/CHEBI_42549


parents

chemical compound


synonyms

(2S)-2-amino-3-(5-fluoro-2,4-dioxo-1,2,3,4-tetrahydropyrimidin-1-yl)propanoic acid

(S)-(-)-5-fluorowillardiine

(S)-alpha-Amino-5-fluoro-3,4-dihydro-2,4-dioxo-1(2H)-pyrimmidinepropanoic acid

(S)-F-Willardiine

2-AMINO-3-(5-FLUORO-2,4-DIOXO-3,4-DIHYDRO-2H-PYRIMIDIN-1-YL)-PROPIONIC ACID

3-(5-fluoro-2,4-dioxo-3,4-dihydropyrimidin-1(2H)-yl)-L-alanine

5-Fluorowillardiine

C7H8FN3O4

3-[4-(3-chlorophenyl)piperazin-1-yl]-1,1-diphenylpropan-2-ol hydrochloride

http://purl.obolibrary.org/obo/CHEBI_64057


parents

ionic salt


synonyms

3-[4-(3-chlorophenyl)piperazin-1-yl]-1,1-diphenylpropan-2-ol hydrochloride

3-[4-(3-chlorophenyl)piperazin-1-yl]-1,1-diphenylpropan-2-ol monohydrochloride

4-(3-chlorophenyl)-1-(2-hydroxy-3,3-diphenylpropyl)piperazin-1-ium chloride

BRL 15572 hydrochloride

BRL 15572 monohydrochloride

C25H28Cl2N2O

3-aminobenzamide

http://purl.obolibrary.org/obo/CHEBI_64042


parents

chemical compound


synonyms

3-aminobenzamide

3-aminobenzoic acid amide

3-H2NC6H4CONH2

aniline-3-carboxamide

C7H8N2O

m-aminobenzamide

meta-aminobenzamide

3-aminophenol

http://purl.obolibrary.org/obo/CHEBI_28924

The one of three amino derivatives of phenol which has the single amino substituent located meta to the phenolic -OH group.

The sixth of the seven cervical vertebrae.


parents

chemical compound


synonyms

C6H7NO

C6 Vertebra

InChI=1/C6H7NO/c7-5-2-1-3-6(8)4-5/h1-4,8H,7H2

InChIKey=CWLKGDAVCFYWJK-UHFFFAOYAM

m-Aminophenol

m-hydroxyaniline

Nc1cccc(O)c1

3C syndrome

http://www.orpha.net/ORDO/Orphanet_7

3C syndrome, first reported in 1987 by Ritscher and Schinzel, is characterized by the association of cardiac malformation, cerebellar hypoplasia and cranial dysmorphism. Cardiac malformations include defects of the endocardial cushion ranging from anomalies of the mitral or tricuspid valves to a complete atrioventricular canal, and/or conotruncal defects, and are the most important prognostic factor in the syndrome. Cranial features include relative macrocephaly, bulging forehead, prominent occiput, large anterior fontanel, ocular hypertelorism, depressed nasal bridge, downslanting palpebral fissures, cleft palate and bifid uvula. Multiple malformations are inconsistently associated with this syndrome.


parents

Multiple congenital anomalies/dysmorphic syndrome-intellectual disability

Rare genetic intellectual disability with developmental anomaly

Genetic syndrome with a Dandy-Walker malformation as major feature


synonyms

Craniocerebellocardiac dysplasia

Ritscher-Schinzel syndrome

3-dehydro-6-deoxoteasterone

http://purl.obolibrary.org/obo/CHEBI_20710


parents

chemical compound


synonyms

(22R,23R,24S)-22,23-dihydroxy-5alpha-ergostan-3-one

(22R,23R)-22,23-dihydroxy-5alpha-campestan-3-one

(5alpha,22R,23R,24S)-22,23-dihydroxyergostan-3-one

3-oxo-campestan-22R,23R-diol

C28H48O3

3-dehydroteasterone

http://purl.obolibrary.org/obo/CHEBI_20000


parents

chemical compound


synonyms

(22R,23R,24S)-22,23-dihydroxy-5alpha-ergostane-3,6-dione

(22R,23R)-22,23-dihydroxy-5alpha-campestane-3,6-dione

3,6-dioxo-Campestan-22R,23R-diol

C28H46O4

3-fold embryo

http://www.ebi.ac.uk/efo/EFO_0005499

C. elegans 520-620min after first cleavage at 20 Centigrade. Cell number remains at ~560 cells, with some new cells generated and some cells go through programmed cell death. The shape of embryo is elongated and tripple fold. A stage between 2-fold embryo and fully-elongated embryo. Also called pretzel embryo or pretzel stage.


parents

embryo stage

3H-1,2-dithiole-3-thione

http://purl.obolibrary.org/obo/CHEBI_50866

A 1,2-dithiole that has formula C3H2S3.


parents

chemical compound


synonyms

1,2-dithiol-3-thione

1,2-dithiole-3-thione

C3H2S3

InChI=1/C3H2S3/c4-3-1-2-5-6-3/h1-2H

InChIKey=LZENMJMJWQSSNJ-UHFFFAOYAS

S=C1SSC=C1

3-hydroxy-3-methylglutaric aciduria

http://www.orpha.net/ORDO/Orphanet_20

3-hydroxy-3-methylglutaric aciduria (3HMG) is an organic aciduria, due to deficiency of 3-hydroxy-3-methylglutaryl-CoA-lyase (a key enzyme in ketogenesis and leucine metabolism) usually presenting in infancy with episodes of metabolic decompensation triggered by periods of fasting or infections, which when left untreated are life-threatening and may lead to neurological sequelae.


parents

Classic organic aciduria

Disorder of ketone body metabolism


synonyms

3-hydroxy-3-methylglutaryl-CoA lyase deficiency

Hydroxymethylglutaric aciduria

3-hydroxy-3-methylglutaryl-CoA synthase deficiency

http://www.orpha.net/ORDO/Orphanet_35701


parents

Disorder of ketone body metabolism


synonyms

HMG-CoA synthase deficiency

3-hydroxyacyl-CoA dehydrogenase deficiency

http://www.orpha.net/ORDO/Orphanet_309127


parents

Disorder of mitochondrial fatty acid oxidation


children

Hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency

Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency

3-hydroxyisobutyric aciduria

http://www.orpha.net/ORDO/Orphanet_939


parents

Classic organic aciduria

3 inflorescence detectable stage

http://purl.obolibrary.org/obo/PO_0007047

A reproductive growth stage during which an inflorescence is detectable. This includes the stage when an inflorescence starts to develop (and is detectable only by assay or with a microscope), to the stage where it is visible to the naked eye. This includes the booting stage in the grasses (Poaceae). There is no one-to-one correspondence between some of the phases of inflorescence formation in members of Poaceae (e.g., booting) with that of other families.


parents

sporophyte development stage


synonyms

BBCH principal growth stage 4

BBCH principal growth stage 5

3-isobutyl-1-methyl-7H-xanthine

http://purl.obolibrary.org/obo/CHEBI_34795

A 3-isobutyl-1-methylxanthine that has formula C10H14N4O2.


parents

chemical compound


synonyms

1-methyl-3-(2-methylpropyl)-3,7-dihydro-1H-purine-2,6-dione

1-methyl-3-(2-methylpropyl)-7H-purine-2,6-dione

1-methyl-3-(propan-2-yl)-3,7-dihydro-1H-purine-2,6-dione

1-methyl-3-isobutylxanthine

3-isobutyl-1-methyl-3,7-dihydro-1H-purine-2,6-dione

3-isobutyl-1-methylxanthine

3-Isobutyl-1-methyxanthine

C10H14N4O2

CC(C)Cn1c2nc[nH]c2c(=O)n(C)c1=O

IBMX

InChI=1/C10H14N4O2/c1-6(2)4-14-8-7(11-5-12-8)9(15)13(3)10(14)16/h5-6H,4H2,1-3H3,(H,11,12)/f/h11H

InChIKey=APIXJSLKIYYUKG-WXRBYKJCCL

3-methylbenzyl alcohol

http://purl.obolibrary.org/obo/CHEBI_27995

Encoded by HOXC6 Gene (ANTP Family), 153- and 235-amino acid (27-kD) Homeobox C6 Protein isoforms are highly conserved sequence-specific DNA-binding homeobox transcription repressors that can cooperate with other HOX proteins and may contribute to the breast cell phenotype through co-operative interactions. As part of a developmental regulatory system that provides anterior-posterior positional identity to cells, HOXC6 may regulate the coordinated expression of multiple genes involved in morphogenesis and differentiation. (from LocusLink, Swiss-Prot, OMIM, and NCI)

Homeobox protein Hox-C6 (235 aa, ~27 kDa) is encoded by the human HOXC6 gene. This protein plays a role in transcription and embryonic development.


parents

chemical compound


synonyms

CP25

HHO.C8

Homeobox Protein 3C

Homeobox Protein C6

Homeobox Protein C8

Homeobox Protein CP25

Homeobox Protein HHO.C8

Homeobox Protein Hox-3C

Homeobox Protein HOXC6

Homeobox Protein Hox-C6

HOX3C

HOXC6

3-methylglutaconic aciduria

http://www.orpha.net/ORDO/Orphanet_289902


parents

Classic organic aciduria


children

3-methylglutaconic aciduria type 1

3-methylglutaconic aciduria type 3

3-methylglutaconic aciduria type 4

Barth syndrome

Dilated cardiomyopathy with ataxia

MEGDEL syndrome

3-methylglutaconic aciduria type 1

http://www.orpha.net/ORDO/Orphanet_67046


parents

3-methylglutaconic aciduria


synonyms

3-methylglutaconyl-CoA hydratase deficiency

3MG-CoA hydratase deficiency

MGA type 1

3-methylglutaconic aciduria type 3

http://www.orpha.net/ORDO/Orphanet_67047


parents

3-methylglutaconic aciduria

Autosomal recessive syndromic optic atrophy


synonyms

Autosomal recessive optic atrophy plus syndrome

Autosomal recessive optic atrophy type 3

Costeff optic atrophy syndrome

Costeff syndrome

Infantile optic atrophy with chorea and spastic paraplegia

MGA3

3-methylglutaconic aciduria type 4

http://www.orpha.net/ORDO/Orphanet_67048


parents

3-methylglutaconic aciduria


synonyms

MGA4

3M syndrome

http://www.orpha.net/ORDO/Orphanet_2616

3M syndrome is a primordial growth disorder characterized by low birth weight, reduced birth length, severe postnatal growth restriction, a spectrum of minor anomalies (including facial dysmorphism) and normal intelligence.


parents

Genetic malformation syndrome with short stature

Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability

Slender bone dysplasia


synonyms

3-M syndrome

Dolichospondylic dysplasia

Gloomy face syndrome

Le Merrer syndrome

Yakut short stature syndrome

3-nitropropionic acid

http://purl.obolibrary.org/obo/CHEBI_16348

The 3-nitro derivative of propanoic acid.

This gene plays a regulatory role in the complement pathway, which is comprised of a complex proteolytic cascade.


parents

acid


synonyms

3-nitropropanoic acid

3-NPA

beta-Nitropropanoate

beta-Nitropropanoic acid

beta-Nitropropionic acid

Bovinocidin

C3 Gene

C3H5NO4

Complement Component 3 Gene

InChI=1/C3H5NO4/c5-3(6)1-2-4(7)8/h1-2H2,(H,5,6)/f/h5H

InChIKey=WBLZUCOIBUDNBV-JSWHHWTPCG

OC(=O)CCN(=O)=O

3-phosphoglycerate dehydrogenase deficiency, infantile/juvenile form

http://www.orpha.net/ORDO/Orphanet_79351

3-Phosphoglycerate dehydrogenase deficiency (3-PGDH deficiency) is an autosomal recessive form of serine deficiency syndrome (see this term) characterized clinically in the few reported cases by congenital microcephaly, psychomotor retardation and intractable seizures in the infantile form and by absence seizures, moderate developmental delay and behavioral disorders in the juvenile form


parents

Neurometabolic disorder due to serine deficiency

3-phosphoserine phosphatase deficiency

http://www.orpha.net/ORDO/Orphanet_79350

3-Phosphoserine phosphatase deficiency is an extremely rare form of serine deficiency syndrome (see this term) characterized clinically by congenital microcephaly and severe psychomotor retardation in the single reported case to date, which was associated with Williams syndrome (see this term).


parents

Neurometabolic disorder due to serine deficiency

3q13 microdeletion syndrome

http://www.orpha.net/ORDO/Orphanet_1621


parents

Partial deletion of the long arm of chromosome 3


synonyms

Del(3)(q13)

Monosomy 3q13

3q26 microduplication syndrome

http://www.orpha.net/ORDO/Orphanet_96095


parents

Partial duplication of the long arm of chromosome 3


synonyms

Cornelia de Lange-like syndrome

Dup(3)(q26)

Trisomy 3q26

3q26q27 microdeletion syndrome

http://www.orpha.net/ORDO/Orphanet_356947


parents

Partial deletion of the long arm of chromosome 3


synonyms

3q26-q27microdeletion syndrome

Del(3)(q26q27)

Monosomy 3q26q27

Monosomy 3q26-q27

3q27.3 microdeletion syndrome

http://www.orpha.net/ORDO/Orphanet_397695


parents

Multiple congenital anomalies/dysmorphic syndrome-intellectual disability

Rare genetic intellectual disability with developmental anomaly

Partial deletion of the long arm of chromosome 3


synonyms

Del(3)(q27.3)

3q29 microdeletion syndrome

http://www.orpha.net/ORDO/Orphanet_65286

3q29 microdeletion syndrome is a recurrent subtelomeric deletion syndrome with variable clinical manifestations including intellectual deficit and dysmorphic features.


parents

Partial deletion of the long arm of chromosome 3


synonyms

3q subtelomere deletion syndrome

3qter deletion

Del(3)(q29)

Monosomy 3q29

Monosomy 3qter

3q29 microduplication

http://www.orpha.net/ORDO/Orphanet_251038

3q29 microduplications are recently described chromosomal abnormalities with unclear clinical significance.


parents

Partial duplication of the long arm of chromosome 3


synonyms

Trisomy 3q29

3T3-F442A

http://www.ebi.ac.uk/efo/EFO_0002811

Preadipocyte cell line.


parents

mouse cell line


synonyms

3T3-F442A cell

F442A

F442A cell

3T3-L1

http://www.ebi.ac.uk/efo/EFO_0001084


parents

mouse cell line

4,4',4''-(4-propylpyrazole-1,3,5-triyl)trisphenol

http://purl.obolibrary.org/obo/CHEBI_64110


parents

chemical compound


synonyms

1,3,5-tris(4-hydroxyphenyl)-4-propylpyrazole

4,4',4''-(4-propyl-1H-pyrazole-1,3,5-triyl)triphenol

C24H22N2O3

4,5-dianilinophthalimide

http://purl.obolibrary.org/obo/CHEBI_53110


parents

amide


synonyms

5,6-bis(phenylamino)-1H-isoindole-1,3(2H)-dione

C20H15N3O2

Cgp 52411

4-(4-methylpiperazin-1-yl)-7-(trifluoromethyl)pyrrolo[1,2-a]quinoxaline dimaleate

http://purl.obolibrary.org/obo/CHEBI_64053


parents

spiramide


synonyms

4-(4-methylpiperazin-1-yl)-7-(trifluoromethyl)pyrrolo[1,2-a]quinoxaline di[(2Z)-but-2-enedioate]

C25H25F3N4O8

CGS 12066B

CGS 12066B dimaleate

4-(methylnitrosamino)-1-(3-pyridyl)-1-butanone

http://purl.obolibrary.org/obo/CHEBI_32692

A nitrosamine that has formula C10H13N3O2.


parents

chemical compound


synonyms

4-(N-Methyl-N-nitrosamino)-1-(3-pyridyl)-1-butanone

4-(N-nitrosomethylamino)-1-(3-pyridyl)butan-1-one

4-[methyl(nitroso)amino]-1-(pyridin-3-yl)butan-1-one

C10H13N3O2

CN(CCCC(=O)c1cccnc1)N=O

InChI=1/C10H13N3O2/c1-13(12-15)7-3-5-10(14)9-4-2-6-11-8-9/h2,4,6,8H,3,5,7H2,1H3

InChIKey=FLAQQSHRLBFIEZ-UHFFFAOYAR

NNK (carcinogen)

4-\{[(5,5,8,8-tetramethyl-5,6,7,8-tetrahydronaphthalen-2-yl)carbonyl]amino\}benzoic acid

http://purl.obolibrary.org/obo/CHEBI_64210


parents

chemical compound


synonyms

4-{[(5,5,8,8-tetramethyl-5,6,7,8-tetrahydronaphthalen-2-yl)carbonyl]amino}benzoic acid

AM580

Am 580

AM-580

C22H25NO3

CD 336

CD-336

416B

http://www.ebi.ac.uk/efo/EFO_0005482

Mouse hematopoietic suspension cell line positive for CD34. The cells have a diploid complement of chromosomes, are non-tumorigenic and bipotential (can be induced to differentiate in vivo into two distinct haematopoietic lineages), and which in appropriate circumstances protect mice from potentially lethal radiation. [PMID: 763330]


parents

mouse cell line

4470

http://www.ebi.ac.uk/efo/EFO_0002807


parents

mouse cell line

4475

http://www.ebi.ac.uk/efo/EFO_0002808


parents

mouse cell line

4483

http://www.ebi.ac.uk/efo/EFO_0002809


parents

mouse cell line

45,X/46,XY mixed gonadal dysgenesis

http://www.orpha.net/ORDO/Orphanet_1772

45,X/46,XY mixed gonadal dysgenesis (45,X/46,XY MGD) is a disorder of sex development (DSD) associated with a numerical sex chromosome abnormality resulting from Y-chromosome mosaicism and leading to abnormal gonadal development.


parents

Y chromosome number anomaly

Sex chromosome disorder of sex development

Gonadal dysgenesis of gynecological interest

Male infertility due to gonadal dysgenesis


synonyms

45,X/46,XY MGD

45,X0/46,XY MGD

45,X0/46,XY mixed gonadal dysgenesis

454 GS 20 sequencer

http://www.ebi.ac.uk/efo/EFO_0004206

The 454 GS 20 is a GS20 high-throughput sequencing machine developed by 454 Life Sciences.


parents

high throughput sequencer

454 GS 20 standard manufacturer's protocol

http://www.ebi.ac.uk/efo/EFO_0005051

The standard protocol supplied by the manufacturer of the 454 GS 20 sequencer for nucleic acid sequencing protocol.


parents

nucleic acid sequencing protocol

454 GS FLX sequencer

http://www.ebi.ac.uk/efo/EFO_0004432


parents

high throughput sequencer

454 GS FLX Titanium sequencer

http://www.ebi.ac.uk/efo/EFO_0004433

The 454 GS FLX Titanium sequencer is a GS high-throughput sequencing machine developed by 454 Life Sciences.


parents

high throughput sequencer

454 GS Junior sequencer

http://www.ebi.ac.uk/efo/EFO_0004434

The 454 GS Junior is a GS high-throughput sequencing machine developed by 454 Life Sciences.


parents

high throughput sequencer

454 GS sequencer

http://www.ebi.ac.uk/efo/EFO_0004431

The 454 GS is a GS high-throughput sequencing machine developed by 454 Life Sciences.


parents

high throughput sequencer

454 Sequencing

http://www.ebi.ac.uk/efo/EFO_0005016

454 sequencing is a DNA sequencing using 454 technology from Roche, which allows sequencing of a single strand of DNA by synthesizing the complementary strand along it, one base pair at a time, and detecting which base was actually added at each step. The template DNA is immobilized, and solutions of A, C, G, and T nucleotides are added and removed after the reaction, sequentially. Light is produced only when the nucleotide solution complements the first unpaired base of the template. The sequence of solutions which produce chemiluminescent signals allows the determination of the sequence of the template. ssDNA template is hybridized to a sequencing primer and incubated with the enzymes DNA polymerase, ATP sulfurylase, luciferase and apyrase, and with the substrates adenosine 5-prime phosphosulfate (APS) and luciferin.


parents

DNA assay

sequencing assay


synonyms

pyrosequencing

46,XX disorder of gonadal development

http://www.orpha.net/ORDO/Orphanet_325055


parents

Genetic 46,XX disorder of sex development


children

46,XX gonadal dysgenesis

46,XX ovotesticular disorder of sex development

46,XX testicular disorder of sex development

46,XX disorder of sex development - anorectal anomalies

http://www.orpha.net/ORDO/Orphanet_2973


parents

Syndromic anorectal malformation

Syndrome with 46,XX disorder of sex development


synonyms

Female pseudohermaphroditism - anorectal anomalies

46,XX disorder of sex development induced by fetal androgens excess

http://www.orpha.net/ORDO/Orphanet_90776


parents

Genetic disorder of sex development of gynecological interest

Genetic 46,XX disorder of sex development


children

Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency

Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency

Congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency

Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency

Glucocorticoid resistance


synonyms

46,XX DSD induced by fetal androgens excess

46,XX disorder of sex development induced by fetoplacental androgens excess

http://www.orpha.net/ORDO/Orphanet_325061


parents

Genetic disorder of sex development of gynecological interest

Genetic 46,XX disorder of sex development


children

Aromatase deficiency


synonyms

46,XX DSD induced by fetoplacental androgens excess

46,XX disorder of sex development - skeletal anomalies

http://www.orpha.net/ORDO/Orphanet_2975


parents

Syndrome with 46,XX disorder of sex development

Syndrome with disorder of sex development of gynecological interest


synonyms

Female pseudohermaphroditism - skeletal anomalies

46,XX gonadal dysgenesis

http://www.orpha.net/ORDO/Orphanet_243

46,XX gonadal dysgenesis (46,XX GD) is a primary ovarian defect leading to premature ovarian failure (POF; see this term) in otherwise normal 46,XX females as a result of failure of the gonads to develop or due to resistance to gonadotrophin stimulation.


parents

46,XX disorder of gonadal development

Female infertility due to gonadal dysgenesis

Non-acquired premature ovarian failure

Gonadal dysgenesis of gynecological interest


synonyms

46,XX complete gonadal dysgenesis

46,XX ovarian dysgenesis

46,XX pure gonadal dysgenesis

Follicular stimulating hormone-resistant ovaries

FSH-RO

Hypergonadotropic ovarian dysgenesis

XX female gonadal dysgenesis

XX-GD

46,XX ovotesticular disorder of sex development

http://www.orpha.net/ORDO/Orphanet_2138

46,XX ovotesticular disorder of sex development (46,XX ovotesticular DSD) is characterized by histologically confirmed testicular and ovarian tissue in an individual with a 46,XX karyotype.


parents

46,XX disorder of gonadal development

Female infertility due to gonadal dysgenesis

Gonadal dysgenesis of gynecological interest


synonyms

46,XX ovotesticular DSD

True hermaphroditism

46,XX testicular disorder of sex development

http://www.orpha.net/ORDO/Orphanet_393

46,XX testicular disorder of sex development (46,XX testicular DSD) is characterized by male external genitalia, ranging from normal to ambiguous with associated testosterone deficiency.


parents

46,XX disorder of gonadal development

Male infertility due to gonadal dysgenesis


synonyms

46,XX testicular DSD

De la Chapelle syndrome

XX, male syndrome

46,XY complete gonadal dysgenesis

http://www.orpha.net/ORDO/Orphanet_242

46,XY complete gonadal dysgenesis (46,XY CGD) is a disorder of sex development (DSD) associated with anomalies in gonadal development that result in the presence of female external and internal genitalia despite the 46,XY karyotype.


parents

Syndrome associated with hypertrophic cardiomyopathy

46,XY disorder of gonadal development

Syndromic lymphedema

Gonadal dysgenesis of gynecological interest


synonyms

46,XY CGD

46,XY pure gonadal dysgenesis

Swyer syndrome

46,XY disorder of gonadal development

http://www.orpha.net/ORDO/Orphanet_325118


parents

Genetic 46,XY disorder of sex development


children

46,XY complete gonadal dysgenesis

46,XY ovotesticular disorder of sex development

46,XY partial gonadal dysgenesis

Testicular agenesis

Testicular regression syndrome

46,XY disorder of sex development - adrenal insufficiency due to CYP11A1 deficiency

http://www.orpha.net/ORDO/Orphanet_168558


parents

Genetic chronic primary adrenal insufficiency

46,XY disorder of sex development due to adrenal and testicular steroidogenesis defect


synonyms

XY sex reversal - adrenal failure

46,XY disorder of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency

http://www.orpha.net/ORDO/Orphanet_752


parents

Rare male infertility due to testicular endocrine disorder

Rare female infertility due to adrenal disorder of genetic origin

46,XY disorder of sex development due to testicular steroidogenesis defect


synonyms

17-beta-hydroxysteroid dehydrogenase 3 deficiency

17-ketoreductase deficiency

17-ketosteroidreductase deficiency

Male pseudohermaphroditism due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency

46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency

http://www.orpha.net/ORDO/Orphanet_753

46, XY disorder of sex development (DSD; see this term) due to 5-alpha-reductase 2 (SRD5A2) deficiency is a disorder of sex development due to a defect in testosterone (T) metabolism resulting in incomplete intrauterine masculinization. Patients present an ambiguous external genitalia which varies from a female with a blind vaginal pouch to a fully male phenotype with pseudovaginal posterior hypospadias (see this term) or only micropenis.


parents

Rare male infertility due to testicular endocrine disorder

46,XY disorder of sex development due to a defect in testosterone metabolism by peripheral tissue


synonyms

46,XY DSD due to 5-alpha-reductase 2 deficiency

Male pseudohermaphroditism due to 5-alpha-reductase 2 deficiency

Pseudovaginal perineoscrotal hypospadias

Steroid 5-alpha-reductase deficiency

46,XY disorder of sex development due to a defect in testosterone metabolism by peripheral tissue

http://www.orpha.net/ORDO/Orphanet_98086


parents

46,XY disorder of sex development due to impaired androgen production

46,XY disorder of sex development of gynecological interest


children

46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency

46,XY disorder of sex development due to adrenal and testicular steroidogenesis defect

http://www.orpha.net/ORDO/Orphanet_90786


parents

46,XY disorder of sex development of gynecological interest

46,XY disorder of sex development due to testosterone synthesis defect


children

46,XY disorder of sex development - adrenal insufficiency due to CYP11A1 deficiency

Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency

Congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency

Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency

Congenital lipoid adrenal hyperplasia due to STAR deficency


synonyms

46,XY DSD due to adrenal and testicular steroidogenesis defect

46,XY disorder of sex development due to cholesterol synthesis defect

http://www.orpha.net/ORDO/Orphanet_325511


parents

46,XY disorder of sex development due to testosterone synthesis defect


children

Smith-Lemli-Opitz syndrome


synonyms

46,XY DSD due to cholesterol synthesis defect

46,XY disorder of sex development due to impaired androgen production

http://www.orpha.net/ORDO/Orphanet_325357


parents

Genetic 46,XY disorder of sex development of endocrine origin


children

46,XY disorder of sex development due to a defect in testosterone metabolism by peripheral tissue

46,XY disorder of sex development due to testosterone synthesis defect

Leydig cell hypoplasia


synonyms

46,XY DSD due to impaired androgen production

46,XY disorder of sex development due to isolated 17,20 lyase deficiency

http://www.orpha.net/ORDO/Orphanet_90796


parents

46,XY disorder of sex development due to testicular steroidogenesis defect

46,XY disorder of sex development due to testicular steroidogenesis defect

http://www.orpha.net/ORDO/Orphanet_90787


parents

46,XY disorder of sex development of gynecological interest

46,XY disorder of sex development due to testosterone synthesis defect


children

46,XY disorder of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency

46,XY disorder of sex development due to isolated 17,20 lyase deficiency


synonyms

46,XY DSD due to testicular steroidogenesis defect

46,XY disorder of sex development due to testosterone synthesis defect

http://www.orpha.net/ORDO/Orphanet_90783


parents

46,XY disorder of sex development due to impaired androgen production


children

46,XY disorder of sex development due to adrenal and testicular steroidogenesis defect

46,XY disorder of sex development due to cholesterol synthesis defect

46,XY disorder of sex development due to testicular steroidogenesis defect


synonyms

46,XY DSD due to due to testosterone synthesis defect

46,XY disorder of sex development of gynecological interest

http://www.orpha.net/ORDO/Orphanet_325632


parents

Genetic disorder of sex development of gynecological interest


children

46,XY disorder of sex development due to a defect in testosterone metabolism by peripheral tissue

46,XY disorder of sex development due to adrenal and testicular steroidogenesis defect

46,XY disorder of sex development due to testicular steroidogenesis defect

Androgen insensitivity syndrome


synonyms

46,XY DSD of gynecological interest

46,XY gonadal dysgenesis - motor and sensory neuropathy

http://www.orpha.net/ORDO/Orphanet_168563


parents

Syndrome with disorder of sex development of gynecological interest

Syndrome with 46,XY disorder of sex development

46,XY ovotesticular disorder of sex development

http://www.orpha.net/ORDO/Orphanet_325345


parents

46,XY disorder of gonadal development

Gonadal dysgenesis of gynecological interest


synonyms

46,XY ovotesticular DSD

46,XY partial gonadal dysgenesis

http://www.orpha.net/ORDO/Orphanet_251510

46,XY partial gonadal dysgenesis (46,XY PGD) is a disorder of sex development (DSD) associated with anomalies in gonadal development that results in genital ambiguity of variable degree ranging from almost female phenotype to almost male phenotype in a patient carrying a male 46,XY karyotype.


parents

46,XY disorder of gonadal development

Female infertility due to gonadal dysgenesis

Gonadal dysgenesis of gynecological interest

Male infertility due to gonadal dysgenesis


synonyms

46,XY partial testicular dysgenesis

46,XY PGD

46C

http://www.ebi.ac.uk/efo/EFO_0005484

46C is an embryonic cell line, constructed in the laboratory of Austin Smith, in which a drug resistance gene is placed under the control of a Sox1 promoter. Cells were isolated from the 129a mouse strain. [PMID: 12524553]


parents

mouse cell line

47,XYY syndrome

http://www.orpha.net/ORDO/Orphanet_8


parents

Y chromosome number anomaly


synonyms

Disomy Y

Double Y

48,XXXY syndrome

http://www.orpha.net/ORDO/Orphanet_96263

The 48,XXXY syndrome represents a chromosomal anomaly of the aneuploidic type characterized by the presence of two extra X chromosomes in males.


parents

Syndromic urogenital tract malformation

X chromosome number anomaly with male phenotype

Sex chromosome disorder of sex development

Male infertility due to gonadal dysgenesis

48,XXYY syndrome

http://www.orpha.net/ORDO/Orphanet_10

The 48,XXYY syndrome represents a chromosomal anomaly of the aneuploidic type characterized by the presence of an extra X and Y chromosome in males.


parents

Syndromic urogenital tract malformation

X and Y chromosomal anomaly

Sex chromosome disorder of sex development

48,XYYY syndrome

http://www.orpha.net/ORDO/Orphanet_99329


parents

Syndromic urogenital tract malformation

Y chromosome number anomaly

Male infertility due to gonadal dysgenesis

49,XXXXY syndrome

http://www.orpha.net/ORDO/Orphanet_96264

The 49,XXXXY syndrome represents a chromosomal anomaly of the aneuploidic type characterized by the presence of three extra X chromosomes in males.


parents

Syndromic urogenital tract malformation

X chromosome number anomaly with male phenotype

Sex chromosome disorder of sex development

Male infertility due to gonadal dysgenesis

49,XXXYY syndrome

http://www.orpha.net/ORDO/Orphanet_261534


parents

X and Y chromosomal anomaly

49,XYYYY syndrome

http://www.orpha.net/ORDO/Orphanet_99330


parents

Y chromosome number anomaly

Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability

4-cell embryo

http://www.ebi.ac.uk/efo/EFO_0005500

C. elegans 20-40min after first cleavage at 20 Centigrade. Contains 4 cells.


parents

embryo stage

4-fluoro-N-\{2-[4-(7-methoxynaphthalen-1-yl)piperazin-1-yl]ethyl\}benzamide hydrochloride

http://purl.obolibrary.org/obo/CHEBI_64099


parents

ionic salt


synonyms

1-((4-Fluorobenzoylamino)ethyl)-4-(7-methoxy-1-naphthyl)piperazine hydrochloride

4-fluoro-N-{2-[4-(7-methoxynaphthalen-1-yl)piperazin-1-yl]ethyl}benzamide hydrochloride

C24H27ClFN3O2

S 14506

S-14506

S14506 hydrochloride

S 14506 hydrochloride

S14506 monohydrochloride

S 14506 monohydrochloride

4-hydroxy-2-nonenal

http://purl.obolibrary.org/obo/CHEBI_32585

A hydroxyaldehyde that has formula C9H16O2.


parents

chemical compound


synonyms

[H]C(=CC=O)C(O)CCCCC

4-Hydroxy-2,3-nonenal

4-hydroxynon-2-enal

4-Hydroxynonenal

C9H16O2

InChI=1/C9H16O2/c1-2-3-4-6-9(11)7-5-8-10/h5,7-9,11H,2-4,6H2,1H3

InChIKey=JVJFIQYAHPMBBX-UHFFFAOYAI

4-hydroxybutyric aciduria

http://www.orpha.net/ORDO/Orphanet_22


parents

Neurometabolic disease

Disorder of gamma-aminobutyric acid metabolism


synonyms

Succinic semialdehyde dehydrogenase deficiency

4-hydroxyphenyl retinamide

http://purl.obolibrary.org/obo/CHEBI_42588


parents

drug

amide


synonyms

15-[(4-hydroxyphenyl)amino]retinal

4-HPR

4-hydroxy(phenyl)retinamide

all-trans-4'-Hydroxyretinanilide

C26H33NO2

fenretinida

fenretinide

fenretinidum

N-(4-hydroxyphenyl)all-trans retinamide

N-(4-HYDROXYPHENYL)ALL-TRANS RETINAMIDE

N-(4-Hydroxyphenyl)retinamide

4-nonylphenol

http://purl.obolibrary.org/obo/CHEBI_34440


parents

chemical compound


synonyms

4-n-Nonylphenol

4-nonylphenol

C15H24O

para Nonyl phenol

p-n-Nonylphenol

p-Nonylphenol

4p16.3 microduplication syndrome

http://www.orpha.net/ORDO/Orphanet_96072


parents

Partial duplication of the short arm of chromosome 4


synonyms

Distal duplication 4p

Distal trisomy 4p

Telomeric duplication 4p

Trisomy 4pter

4-phenylbutyric acid

http://purl.obolibrary.org/obo/CHEBI_41500


parents

acid


synonyms

4-phenylbutanoic acid

4-PHENYL-BUTANOIC ACID

4-Phenyl-n-butyric acid

Benzenebutyric acid

C10H12O2

gamma-phenylbutyric acid

gamma-Phenyl-n-butyric acid

omega-Phenylbutanoic acid

omega-phenylbutyric acid

PBA

4q21 microdeletion syndrome

http://www.orpha.net/ORDO/Orphanet_238750

The 4q21 microdeletion syndrome is a newly described syndrome associated with facial dysmorphism, progressive growth restriction, severe intellectual deficit and absent or severely delayed speech.


parents

Partial deletion of the long arm of chromosome 4


synonyms

Del(4)(q21)

Monosomy 4q21

4T1

http://www.ebi.ac.uk/efo/EFO_0002037


parents

breast cancer cell line

mouse cell line

5,6,7,8-tetrahydrobiopterin

http://purl.obolibrary.org/obo/CHEBI_15372


parents

chemical compound


synonyms

2-Amino-6-(1,2-dihydroxypropyl)-5,6,7,8-tetrahydoro-4(1H)-pteridinone

2-amino-6-(1,2-dihydroxypropyl)-5,6,7,8-tetrahydropteridin-4(3H)-one

5,6,7,8-tetrahydrobiopterin

5,6,7,8-Tetrahydrobiopterin

5,6,7,8-TETRAHYDROBIOPTERIN

BH4

C9H15N5O3

Tetrahydrobiopterin

5637

http://www.ebi.ac.uk/efo/EFO_0002096


parents

cancer cell line

Homo sapiens cell line

5-amino-1-(5-phospho-D-ribosyl)imidazole

http://purl.obolibrary.org/obo/CHEBI_28843


parents

chemical compound


synonyms

1-(5'-phosphoribosyl)-5-aminoimidazole

1-(5'-Phosphoribosyl)-5-aminoimidazole

1-(5-O-phosphono-D-ribofuranosyl)-1H-imidazol-5-amine

1-(5-Phospho-D-ribosyl)-5-aminoimidazole

5'-Phosphoribosyl-5-aminoimidazole

5-Amino-1-(5-phospho-D-ribosyl)imidazole

AIR

Aminoimidazole ribotide

C8H14N3O7P

5-amino-1-(5-phospho-D-ribosyl)imidazole-4-carboxamide

http://purl.obolibrary.org/obo/CHEBI_18406


parents

chemical compound


synonyms

1-(5'-phosphoribosyl)-5-amino-4-imidazolecarboxamide

1-(5'-Phosphoribosyl)-5-amino-4-imidazolecarboxamide

5'-phosphoribosyl-5-amino-4-imidazolecarboxamide

5'-Phosphoribosyl-5-amino-4-imidazolecarboxamide

5'-phospho-ribosyl-5-amino-4-imidazole carboxamide

5'-Phospho-ribosyl-5-amino-4-imidazole carboxamide

5-amino-1-(5-O-phosphono-beta-D-ribofuranosyl)-1H-imidazole-4-carboxamide

5-amino-1-(5-phospho-D-ribosyl)imidazole-4-carboxamide

5-Amino-1-(5-phospho-D-ribosyl)imidazole-4-carboxamide

5-aminoimidazole-4-carboxamide ribotide

5-Aminoimidazole-4-carboxamide ribotide

5-phosphoribosyl-4-carbamoyl-5-aminoimidazole

5-Phosphoribosyl-4-carbamoyl-5-aminoimidazole

AICAR

C9H15N4O8P

5-aza-2'-deoxycytidine

http://purl.obolibrary.org/obo/CHEBI_50131


parents

drug


synonyms

4-amino-1-(2-deoxy-beta-D-erythro-pentofuranosyl)-1,3,5-triazin-2(1H)-one

4-amino-1-(2-deoxy-beta-D-erythro-pentofuranosyl)-s-triazin-2(1H)-one

5-azadeoxycytidine

C8H12N4O4

decitabine

5-azacytidine

http://purl.obolibrary.org/obo/CHEBI_2038

A N-glycosyl-1,3,5-triazine that has formula C8H12N4O5.


parents

drug


synonyms

4-amino-1-beta-D-ribofuranosyl-1,3,5-triazin-2(1H)-one

4-Amino-1-beta-D-ribofuranosyl-s-triazin-2(1H)-one

Azacitidine

C8H12N4O5

InChI=1/C8H12N4O5/c9-7-10-2-12(8(16)11-7)6-5(15)4(14)3(1-13)17-6/h2-6,13-15H,1H2,(H2,9,11,16)/t3-,4-,5-,6-/m1/s1/f/h9H2

InChIKey=NMUSYJAQQFHJEW-QUSQBIOGDY

Nc1ncn([C@@H]2O[C@H](CO)[C@@H](O)[C@H]2O)c(=O)n1

5-fluorouracil

http://purl.obolibrary.org/obo/CHEBI_46345


parents

drug


synonyms

5-fluoropyrimidine-2,4(1H,3H)-dione

5-Fluoropyrimidine-2,4-dione

5-fluorouracil

5-Fluorouracil

5-FU

C4H3FN2O2

Fluorouracil

5-fluorouridine

http://purl.obolibrary.org/obo/CHEBI_185922

The 5-fluoro derivative of uridine.


parents

chemical compound


synonyms

5-Fluorouracil 1beta-D-ribofuranoside

C9H11FN2O6

InChI=1/C9H11FN2O6/c10-3-1-12(9(17)11-7(3)16)8-6(15)5(14)4(2-13)18-8/h1,4-6,8,13-15H,2H2,(H,11,16,17)/t4-,5-,6-,8-/m1/s1/f/h11H

InChIKey=FHIDNBAQOFJWCA-OPTMDVTPDF

OC[C@H]1O[C@H]([C@H](O)[C@@H]1O)n1cc(F)c(=O)[nH]c1=O

5-HIAA measurement

http://www.ebi.ac.uk/efo/EFO_0005132

quantification of 5-hydroxyindoleacetic acid in cerebrospinal fluid


parents

measurement

5-nonyloxytryptamine oxalate

http://purl.obolibrary.org/obo/CHEBI_64147


parents

drug


synonyms

2-[5-(nonyloxy)-1H-indol-3-yl]ethanamine ethanedioate

2-[5-(nonyloxy)-1H-indol-3-yl]ethanamine oxalate

2-[5-(nonyloxy)-1H-indol-3-yl]ethanaminium hydrogen oxalate

3-(2-aminoethyl)-5-nonyloxyindole oxalate

C21H32N2O5

O-nonylserotonin oxalate

5-oxoprolinase deficiency

http://www.orpha.net/ORDO/Orphanet_33572


parents

Disorder of the gamma-glutamyl cycle


synonyms

Oxoprolinuria due to oxoprolinase deficiency

5p13 microduplication syndrome

http://www.orpha.net/ORDO/Orphanet_329802


parents

Multiple congenital anomalies/dysmorphic syndrome-intellectual disability

Rare genetic intellectual disability with developmental anomaly

Partial trisomy/tetrasomy of the short arm of chromosome 5


synonyms

Dup(5)(p13)

Trisomy 5p13

5q14.3 microdeletion syndrome

http://www.orpha.net/ORDO/Orphanet_228384

The newly described 5q14.3 microdeletion syndrome includes severe intellectual deficit with no speech, stereotypic movements and epilepsy.


parents

Partial deletion of the long arm of chromosome 5


synonyms

Del(5)(q14.3)

Monosomy 5q14.3

5q31.3 microdeletion syndrome

http://www.orpha.net/ORDO/Orphanet_314655


parents

Multiple congenital anomalies/dysmorphic syndrome-intellectual disability

Partial deletion of the long arm of chromosome 5


synonyms

Del(5)(q31.3)

Monosomy 5q31.3

5q35 microduplication syndrome

http://www.orpha.net/ORDO/Orphanet_228415

The newly described 5q35 microduplication syndrome is associated with microcephaly, short stature, developmental delay and delayed bone maturation.


parents

Partial trisomy of the long arm of chromosome 5


synonyms

Dup(5)(q35)

Trisomy 5q35

600MPE

http://www.ebi.ac.uk/efo/EFO_0001085


parents

mammary gland cell line

639V

http://www.ebi.ac.uk/efo/EFO_0002097


parents

cancer cell line

Homo sapiens cell line

647V

http://www.ebi.ac.uk/efo/EFO_0002098


parents

cancer cell line

Homo sapiens cell line

66cl4

http://www.ebi.ac.uk/efo/EFO_0002038


parents

breast cancer cell line

mouse cell line

67NR

http://www.ebi.ac.uk/efo/EFO_0002039


parents

breast cancer cell line

mouse cell line

6alpha-methylprednisolone

http://purl.obolibrary.org/obo/CHEBI_6888


parents

drug


synonyms

(6alpha,11beta)-11,17,21-trihydroxy-6-methylpregna-1,4-diene-3,20-dione

11beta,17,21-trihydroxy-6alpha-methylpregna-1,4-diene-3,20-dione

1-dehydro-6alpha-methylhydrocortisone

6alpha-methyl-11beta,17alpha,21-triol-1,4-pregnadiene-3,20-dione

C22H30O5

Delta(1)-6alpha-methylhydrocortisone

Medrate

Medrol

Medrone

Methylprednisolon

methylprednisolone

methylprednisolonum

metilprednisolona

Solomet

Urbason

6-deoxocastasterone

http://purl.obolibrary.org/obo/CHEBI_20712


parents

chemical compound


synonyms

(22R,23R)-5alpha-campestane-2alpha,3alpha,22,23-tetraol

C28H50O4

6-deoxotyphasterol

http://purl.obolibrary.org/obo/CHEBI_20717


parents

chemical compound


synonyms

(22R,23R,24S)-5alpha-ergostane-3alpha,22,23-triol

(3alpha,5alpha,22R,23R,24S)-ergostane-3,22,23-triol

6-Deoxotyphasterol

C28H50O3

6-deoxycathasterone

http://purl.obolibrary.org/obo/CHEBI_20714


parents

chemical compound


synonyms

(22S)-5alpha-campestane-3beta,22-diol

6-Deoxocathasterone

C28H50O2

6p22 microdeletion syndrome

http://www.orpha.net/ORDO/Orphanet_251046

6p22 microdeletion syndrome is a newly described syndrome associated with a variable clinical phenotype including developmental delay, facial dysmorphism, short neck and diverse malformations.


parents

Partial deletion of the short arm of chromosome 6


synonyms

Del(6)(p22)

Monosomy 6p22

6-phosphogluconate dehydrogenase deficiency

http://www.orpha.net/ORDO/Orphanet_99135


parents

Hemolytic anemia due to hexose monophosphate shunt and glutathione metabolism anomalies

6-propyl-2-thiouracil

http://purl.obolibrary.org/obo/CHEBI_8502


parents

drug


synonyms

2,3-dihydro-6-propyl-2-thioxo-4(1H)-pyrimidinone

2-Mercapto-6-propyl-4-pyrimidone

2-Mercapto-6-propylpyrimid-4-one

2-Thio-4-oxo-6-propyl-1,3-pyrimidine

2-Thio-6-propyl-1,3-pyrimidin-4-one

4-propyl-2-thiouracil

4-Propyl-2-thiouracil

6-propyl-2-sulfanylidene-2,3-dihydropyrimidin-4(1H)-one

6-Propyl-2-thio-2,4(1H,3H)pyrimidinedione

6-propyl-2-thiouracil

6-propyl-2-thioxo-2,3-dihydropyrimidin-4(1H)-one

6-Propylthiouracil

6-Thio-4-propyluracil

C7H10N2OS

propiltiouracilo

propylthiouracil

Propylthiouracil

propylthiouracile

propylthiouracilum

6-pyruvoyl-tetrahydropterin synthase deficiency

http://www.orpha.net/ORDO/Orphanet_13


parents

Hyperphenylalaninemia


synonyms

Hyperphenylalaninemia due to 6-pyruvoyltetrahydropterin synthase deficiency

6q16 deletion syndrome

http://www.orpha.net/ORDO/Orphanet_171829

Deletion 6q16 syndrome is a Prader-Willi like syndrome characterized by obesity, hyperphagia, hypotonia, small hands and feet, eye/vision anomalies, and global developmental delay.


parents

Partial deletion of the long arm of chromosome 6

Prader-Willi-like syndrome


synonyms

Del(6)(q16)

Monosomy 6q16

Prader-Willi-like syndrome due to deletion 6q16

6q25 microdeletion syndrome

http://www.orpha.net/ORDO/Orphanet_251056

6q25 microdeletion syndrome is a recently described syndrome characterized by developmental delay, facial dysmorphism and hearing loss.


parents

Partial deletion of the long arm of chromosome 6


synonyms

Del(6)(q25)

Monosomy 6q25

6q terminal deletion syndrome

http://www.orpha.net/ORDO/Orphanet_75857


parents

Syndromic anorectal malformation

Partial deletion of the long arm of chromosome 6

7,12-dimethylbenz(a)anthracene

http://purl.obolibrary.org/obo/CHEBI_254496

A monounsaturated long-chain fatty acid with a 20-carbon backbone and the sole double bond originating from the 9th position from the methyl end, with the bond in the cis- configuration.

A tetraphene having methyl substituents at the 7- and 12-positions. It is a potent carcinogen and is present in tobacco smoke.


parents

chemical compound


synonyms

1,4-Dimethyl-2,3-benzphenanthrene

11-Eicosenoic Acid

6,7-Dimethyl-1,2-benzanthracene

7,12-Dimethyl-1,2-benzanthracene

7,12-Dimethyl-1:2-benz(a)anthracene

7,12-Dimethylbenzanthracene

7,12-Dimethylbenzanthrancene

7,12-dimethylbenzo[a]anthracene

7,12-dimethyltetraphene

7,12-DMBA

9,10-Dimethyl-1,2-benzanthracene

9,10-Dimethyl-1,2-benzanthrazen

9,10-Dimethylbenz(a)anthracene

C20:1 n-9 cis

C20H16

Cc1c2ccccc2c(C)c2c1ccc1ccccc21

Cis-icos-11-enoic

DMBA

Fatty Acid 20:1 n-9

Gondoic Acid

InChI=1/C20H16/c1-13-16-8-5-6-9-17(16)14(2)20-18(13)12-11-15-7-3-4-10-19(15)20/h3-12H,1-2H3

InChIKey=ARSRBNBHOADGJU-UHFFFAOYAX

769P

http://www.ebi.ac.uk/efo/EFO_0002099


parents

cancer cell line

kidney derived cell line

Homo sapiens cell line

786-0

http://www.ebi.ac.uk/efo/EFO_0005707

This line was derived from a primary clear cell adenocarcinoma. The karyotype is hypertriploid; Y was present in 60% the cells examined. The cells display both microvilli and desmosomes, and can be grown in soft agar. The cells produce a PTH like peptides that is identical to peptides produced by breast and lung tumors.


parents

cancer cell line

epithelial cell derived cell line

kidney derived cell line

Homo sapiens cell line


synonyms

786_0

CRL-1932

RCC_7860

RCC7860

RCC 7860

7-chlorokynurenic acid

http://purl.obolibrary.org/obo/CHEBI_63965


parents

acid


synonyms

7-chloro-4-hydroxy-2-carboxyquinoline

7-chloro-4-hydroxyquinoline-2-carboxylic acid

7-CKA

7-Cl-KYNA

C10H6ClNO3

7p22.1 microduplication syndrome

http://www.orpha.net/ORDO/Orphanet_314034


parents

Multiple congenital anomalies/dysmorphic syndrome-intellectual disability

Partial duplication of the short arm of chromosome 7


synonyms

Dup(7)(p22.1)

Trisomy 7p22.1

7q11.23 microduplication syndrome

http://www.orpha.net/ORDO/Orphanet_96121


parents

Partial duplication of the long arm of chromosome 7


synonyms

Dup(7)(q11.23)

Trisomy 7q11.23

7q31 microdeletion syndrome

http://www.orpha.net/ORDO/Orphanet_251061


parents

Partial deletion of the long arm of chromosome 7


synonyms

Del(7)(q31)

Monosomy 7q31

8-(3-chlorostyryl) caffeine

http://purl.obolibrary.org/obo/CHEBI_53115

Caffeine substituted at its 8-position by an (E)-3-chlorostyryl group.


parents

drug


synonyms

1,3,7-trimethyl-8-(3-chlorostyryl)xanthine

8-(3-chlorostyryl)caffeine

8-[(E)-2-(3-chlorophenyl)ethenyl]-1,3,7-trimethyl-3,7-dihydro-1H-purine-2,6-dione

8-CSC

C16H15ClN4O2

Cn1c(\\C=C\\c2cccc(Cl)c2)nc2n(C)c(=O)n(C)c(=O)c12

CSC

InChI=1/C16H15ClN4O2/c1-19-12(8-7-10-5-4-6-11(17)9-10)18-14-13(19)15(22)21(3)16(23)20(14)2/h4-9H,1-3H3/b8-7+

InChIKey=WBWFIUAVMCNYPG-BQYQJAHWBU

8988T

http://www.ebi.ac.uk/efo/EFO_0005713

Human pancreas adenocarcinoma (PA-TU-8988T), "established in 1985 from the liver metastasis of a primary pancreatic adenocarcinoma from a 64-year-old woman; sister cell line of PA-TU-8988S" - DSMZ.


parents

cancer cell line


synonyms

8988 T

8988-T

ACC 162

8-bromo-3',5'-cyclic AMP

http://purl.obolibrary.org/obo/CHEBI_64211


parents

chemical compound


synonyms

8-Br-cAMP

8-bromoadenosine 3',5'-(hydrogen phosphate)

8-Bromoadenosine 3',5'-cyclic monophosphate

8-Bromoadenosine 3',5'-monophosphate

8-Bromoadenosine cyclic 3',5'-phosphate

8-Bromo-cyclic 3',5'-AMP

8-Bromo cyclic adenosine monophosphate

8-bromo-cyclic AMP

8-Bromo-cyclic AMP

BCAMP

C10H11BrN5O6P

Cyclic 8-bromoadenosine 3',5'-monophosphate

8p11.2 deletion syndrome

http://www.orpha.net/ORDO/Orphanet_251066

8p11.2 deletion syndrome is a contiguous gene syndrome characterized by the association of congenital spherocytosis, dysmorphic features, growth delay and hypogonadotropic hypogonadism.


parents

Partial deletion of the short arm of chromosome 8


synonyms

Del(8)(p11.2)

Monosomy 8p11.2

8p23.1 microdeletion syndrome

http://www.orpha.net/ORDO/Orphanet_251071

8p23.1 deletion involves a partial deletion of the short arm of chromosome 8 characterized by low birth weight, postnatal growth deficiency, mild intellectual deficit, hyperactivity, craniofacial abnormalities, and congenital heart defects.


parents

Syndromic urogenital tract malformation

Partial deletion of the short arm of chromosome 8


synonyms

Del(8)(p23.1)

Monosomy 8p23.1

8p23.1 microduplication syndrome

http://www.orpha.net/ORDO/Orphanet_251076


parents

Partial duplication of the short arm of chromosome 8


synonyms

Dup(8)(p23.1)

Trisomy 8p23.1

8p inverted duplication/deletion syndrome

http://www.orpha.net/ORDO/Orphanet_96092

8p inverted duplication/deletion [invdupdel(8p)] syndrome is a rare chromosomal anomaly characterized clinically by mild to severe intellectual deficit, severe developmental delay (psychomotor and speech development), hypotonia with tendency to develop progressive hypertonia and severe orthopedic problems over time, minor facial anomalies and agenesis of the corpus callosum.


parents

Complex chromosomal rearrangement


synonyms

Invdupdel(8p)

Inverted 8p duplication/deletion syndrome

8q12 microduplication syndrome

http://www.orpha.net/ORDO/Orphanet_228399

The newly described 8q12 microduplication syndrome is associated with unusual and characteristic multi-organ clinical features, which include hearing loss, congenital heart defects, intellectual disability, hypotonia in infancy, and Duane anomaly (see this term).


parents

Partial duplication of the long arm of chromosome 8


synonyms

Dup(8)(q12)

Trisomy 8q12

8q21.11 microdeletion syndrome

http://www.orpha.net/ORDO/Orphanet_284160

8q21.11 microdeletion syndrome encompasses heterozygous overlapping microdeletions on chromosome 8q21.11 resulting in intellectual disability, facial dysmorphism comprising a round face, ptosis, short philtrum, Cupid's bow and prominent low-set ears, nasal speech and mild finger and toe anomalies.


parents

Multiple congenital anomalies/dysmorphic syndrome-intellectual disability

Rare genetic intellectual disability with developmental anomaly

Partial deletion of the long arm of chromosome 8


synonyms

Del(8)(q21.11)

Deletion 8q21.11

Monosomy 8q21.11

8q22.1 microdeletion syndrome

http://www.orpha.net/ORDO/Orphanet_178303

The 8q22.1 microdeletion syndrome or Nablus mask-like facial syndrome is a rare microdeletion syndrome associated with a distinct facial appearance.


parents

Partial deletion of the long arm of chromosome 8

Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability


synonyms

Monosomy 8q22.1

Nablus mask-like facial syndrome

9-cis-retinoic acid

http://purl.obolibrary.org/obo/CHEBI_50648


parents

drug


synonyms

(2E,4E,6Z,8E)-3,7-dimethyl-9-(2,6,6-trimethyl-1-cyclohexen-1-yl)-2,4,6,8-nonatetraenoic acid

(7E,9Z,11E,13E)-retinoic acid

(9cis)-retinoic acid

9(Z)-Retinoic acid

9-cis-Tretinoin

Alitretinoin

alitretinoina

alitretinoine

alitretinoinum

C20H28O2

Panretin

9p13 microdeletion syndrome

http://www.orpha.net/ORDO/Orphanet_324313


parents

Rare genetic intellectual disability with developmental anomaly

Partial deletion of the short arm of chromosome 9


synonyms

Del(9)(p13)

Monosomy 9p13

9q21 microdeletion syndrome

http://www.orpha.net/ORDO/Orphanet_352665


parents

Rare genetic intellectual disability with developmental anomaly

Partial monosomy of the long arm of chromosome 9


synonyms

Del(9)(q21)

9q31.1q31.3 microdeletion syndrome

http://www.orpha.net/ORDO/Orphanet_401923


parents

Multiple congenital anomalies/dysmorphic syndrome-intellectual disability

Rare genetic intellectual disability with developmental anomaly

Partial monosomy of the long arm of chromosome 9


synonyms

Del(9)(q31.1q31.3)

Monosomy 9q31.1q31.3

A/J

http://www.ebi.ac.uk/efo/EFO_0001327

A/J is a mouse strain as described in Jackson Laboratory http://jaxmice.jax.org/strain/000646.html


parents

Mus musculus

A101D

http://www.ebi.ac.uk/efo/EFO_0002100

An a101d is a cell line. An a101d is all of the following: something that is bearer of a melanoma, something that derives from a homo sapiens, and something that derives from a skin.


parents

melanoma cell line

Homo sapiens cell line

A172

http://www.ebi.ac.uk/efo/EFO_0002101


parents

cancer cell line

Homo sapiens cell line

A1C measurement

http://www.ebi.ac.uk/efo/EFO_0004541

An A1C measurement is a quantification of glycated A1C hemoglobin in blood used as an index for blood glucose level over several months.


parents

glucose measurement

glycoprotein measurement


synonyms

glycated hemoglobin levels

glycosylated Haemoglobin A level

glycosylated Hemoglobin A level

HbA1c levels

A20

http://www.ebi.ac.uk/efo/EFO_0005285

Murine B-lymphoma cell line. PMID: 14738152 [BTO:0001930]


parents

cancer cell line

B cell derived cell line

mouse cell line


synonyms

A-20

A20 cell

A204

http://www.ebi.ac.uk/efo/EFO_0002102


parents

cancer cell line

Homo sapiens cell line

A204.1

http://www.ebi.ac.uk/efo/EFO_0005702

A malignant rhabdoid tumor diploid cell population cloned from the A204 ATCC cell line. [PMID: 16897758]


parents

cancer cell line

epithelial cell derived cell line

Homo sapiens cell line

A375

http://www.ebi.ac.uk/efo/EFO_0002103


parents

melanoma cell line

Homo sapiens cell line

A427

http://www.ebi.ac.uk/efo/EFO_0002104


parents

Homo sapiens cell line

lung cancer cell line

A498

http://www.ebi.ac.uk/efo/EFO_0002105


parents

cancer cell line

kidney derived cell line

Homo sapiens cell line

A549

http://www.ebi.ac.uk/efo/EFO_0001086


parents

Homo sapiens cell line

lung cancer cell line


synonyms

A-549

A549 cell

A-549 cell

http://purl.obolibrary.org/obo/BTO_0000018


parents

cell line

A673

http://www.ebi.ac.uk/efo/EFO_0002106


parents

cancer cell line

Homo sapiens cell line

A7

http://www.ebi.ac.uk/efo/EFO_0002107


parents

melanoma cell line

Homo sapiens cell line

AA120

http://www.ebi.ac.uk/efo/EFO_0004072

Strain of C. elegans.


parents

Caenorhabditis elegans

AA86

http://www.ebi.ac.uk/efo/EFO_0004025

C. elegans Daf-d, weak heterochronic phenotypes in seam, somatic gonad, intestine. Class III allele.


parents

Caenorhabditis elegans

AA87

http://www.ebi.ac.uk/efo/EFO_0004026

C. elegans Daf-c, gonadal Mig, weak heterochronic phenotypes in intestine and seam. Class VI allele.


parents

Caenorhabditis elegans

AA89

http://www.ebi.ac.uk/efo/EFO_0004027

C. elegans daf-c. Gonald Mig. Weak heterochronic phenotypes in intestine. Class VI allele.


parents

Caenorhabditis elegans

AACOCF3

http://purl.obolibrary.org/obo/CHEBI_2341


parents

chemical compound


synonyms

(6Z,9Z,12Z,15Z)-1,1,1-trifluorohenicosa-6,9,12,15-tetraen-2-one

AACOCF3

Arachidonic acid trifluoromethyl ketone

Arachidonyltrifluoromethane

Arachidonyl trifluoromethyl ketone

C21H31F3O

Aarskog-Scott syndrome

http://www.orpha.net/ORDO/Orphanet_915

Aarskog-Scott syndrome (AAS) is a rare developmental disorder characterized by facial, limbs and genital features, and a disproportionate acromelic short stature.


parents

Multiple congenital anomalies/dysmorphic syndrome-intellectual disability

Syndromic urogenital tract malformation

Genetic malformation syndrome with short stature

Genetic multiple congenital anomalies/dysmorphic syndrome - variable intellectual disability

Syndromic lymphedema

X-linked syndromic intellectual disability


synonyms

Aarskog syndrome

Faciodigitogenital syndrome

Faciogenital dysplasia

Aase-Smith syndrome

http://www.orpha.net/ORDO/Orphanet_916


parents

Orofacial clefting syndrome

Genetic syndrome with a Dandy-Walker malformation as major feature

Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability


synonyms

Aase-Smith I syndrome

Hydrocephalus - cleft palate - joint contractures

AB1

http://www.ebi.ac.uk/efo/EFO_0004042

Strain of C. elegans described with phenotypes such as; increased social feeding, foraging behavior variant, carbon dioxide response variant, bordering


parents

Caenorhabditis elegans

AB2

http://www.ebi.ac.uk/efo/EFO_0004043

Strain of C. elegans


parents

Caenorhabditis elegans

AB2.2

http://www.ebi.ac.uk/efo/EFO_0002812

An ab2.2 is a cell line. An ab2.2 is both something that derives from a mus musculus, and something that derives from an embryonic stem cell.


parents

mouse cell line

ESC derived cell line

abacavir

http://purl.obolibrary.org/obo/CHEBI_2360


parents

drug


synonyms

3,4,4-trimethylhepta-2,5-dienyl-CoA

3'-phosphoadenosine 5'-{3-[(3R)-3-hydroxy-2,2-dimethyl-4-oxo-4-{[3-oxo-3-({2-[(3,4,4-trimethylhepta-2,5-dien-1-yl)sulfanyl]ethyl}amino)propyl]amino}butyl]dihydrogen diphosphate}

C31H48N7O19P3S

CC(=CC(=O)SCCNC(=O)CCNC(=O)[C@H](O)C(C)(C)COP(O)(=O)OP(O)(=O)OC[C@H]1O[C@H]([C@H](O)[C@@H]1OP(O)(O)=O)n1cnc2c(N)ncnc12)C(C)(C)C=CC(O)=O

Delta(2,5)-3,4,4-trimethylpimeloyl-CoA

delta2,5-3,4,4-trimethylpimelyl-CoA

InChI=1/C31H48N7O19P3S/c1-17(30(2,3)8-6-20(40)41)12-21(42)61-11-10-33-19(39)7-9-34-28(45)25(44)31(4,5)14-54-60(51,52)57-59(49,50)53-13-18-24(56-58(46,47)48)23(43)29(55-18)38-16-37-22-26(32)35-15-36-27(22)38/h6,8,12,15-16,18,23-25,29,43-44H,7,9-11,13-14H2,1-5H3,(H,33,39)(H,34,45)(H,40,41)(H,49,50)(H,51,52)(H2,32,35,36)(H2,46,47,48)/t18-,23-,24-,25+,29-/m1/s1/f/h33-34,40,46-47,49,51H,32H2

InChIKey=DEQKKPDRDCEPQL-UACJGMJGDX

abamectin

http://purl.obolibrary.org/obo/CHEBI_39214

A chromosome band present on 10q

Mixture of 80% avermectin B1a and 20% avermectin B1b.


parents

chemical compound


synonyms

10q23.33

Agri-Mek

avermectin B1

Avid

MK 936

Zephyr

ABC-1

http://www.ebi.ac.uk/efo/EFO_0002813


parents

Homo sapiens cell line

lung cancer cell line

abdomen

http://purl.obolibrary.org/obo/UBERON_0000916

In vertebrates such as mammals the abdomen (belly) constitutes the part of the body between the thorax (chest) and pelvis. The region enclosed by the abdomen is termed the abdominal cavity.


parents

animal component


synonyms

abdominopelvic region

abdominopelvis

adult abdomen

belly

celiac region

abdomenal wall

http://www.ebi.ac.uk/efo/EFO_0005096

The abdominal wall represents the boundaries of the abdominal cavity. The abdominal wall is split into the posterior (back), lateral (sides) and anterior (front) walls. There is a common set of layers covering and forming all the walls: the deepest being the extraperitoneal fat, the parietal peritoneum, and a layer of fascia which has different names over where it covers (eg transversalis, psoas fascia). Superficial to these, but not present in the posterior wall are the three layers of muscle, the transversus abdominis (transverse abdominal muscle), the internal (obliquus internus) and the external oblique (obliquus externus).


parents

animal component


synonyms

paries abdominalis

wall of abdomen

wall of abdomen proper

abdominal aorta

http://purl.obolibrary.org/obo/UBERON_0001516

Abdominal part of aorta: the distal part of the descending aorta, which is the continuation of the thoracic part and gives rise to the inferior phrenic, lumbar, median sacral, superior and inferior mesenteric, middle suprarenal, renal, and testicular or ovarian arteries, and celiac trunk[BTO]. The abdominal aorta is the largest artery in the abdominal cavity. As part of the aorta, it is a direct continuation of descending aorta(of the thorax). [WP,unvetted].


parents

animal component


synonyms

abdominal part of aorta

aorta abdominalis

descending abdominal aorta

pars abdominalis aortae

Abdominal Aortic Aneurysm

http://www.ebi.ac.uk/efo/EFO_0004214

An abnormal balloon- or sac-like dilatation in the wall of the ABDOMINAL AORTA which gives rise to the visceral, the parietal, and the terminal (iliac) branches below the aortic hiatus at the diaphragm.


parents

aortic aneurysm


synonyms

Aortic Aneurysm, Abdominal

abdominal aortic artery calcification

http://www.ebi.ac.uk/efo/EFO_0004859

Calcification of the abdominal aortic artery, used as an indicator of sub clinical athrosclerosis


parents

sign or symptom

abdominal aortic fatty streak

http://www.ebi.ac.uk/efo/EFO_0005600

A fatty streak is the first grossly visible (visible to the naked eye) lesion in the development of atherosclerosis. It appears as an irregular yellow-white discoloration on the luminal surface of an artery. It consists of aggregates of foam cells, which are lipoprotein-loaded macrophages located beneath[ambiguous] the inner, endothelial layer of an artery. Fatty streaks may also include T cells, aggregated platelets, and smooth muscle cells. It is the precursor lesion of atheromas that may become atheromatous plaques


parents

phenotypic abnormality of the aorta


synonyms

abdominal aortic fatty streaks

abdominal aortic raised atherosclerotic lesion

http://www.ebi.ac.uk/efo/EFO_0005601

An atherosclerotic abnormality of the abdominal aorta used as a container term for fibrous plaques, complicated lesions, and calcified lesions.


parents

phenotypic abnormality of the aorta


synonyms

abdominal aortic raised lesions

abdominal cavity

http://purl.obolibrary.org/obo/UBERON_0003684

body cavity of the human body (and animal bodies) that holds the bulk of the viscera. It is located below (or inferior to) the thoracic cavity, and above the pelvic cavity. It is a part of the abdominopelvic cavity. Organs of the abdominal cavity include the stomach, liver, gallbladder, spleen, pancreas, small intestine, kidneys, and large intestine. The abdominal cavity is lined with a protective membrane termed the peritoneum. The kidneys are located in the abdominal cavity behind the peritoneum, in the retroperitoneum. The viscera are also covered, in the front, with a layer of peritoneum called the greater omentum (or omental apron). [database_cross_reference: http://en.wikipedia.org/wiki/Abdominal_cavity]


parents

animal component


children

retroperitoneum


synonyms

cavity of abdominal compartment

cavity of compartment of abdomen

space of abdominal compartment

abdominal distention

http://purl.obolibrary.org/obo/HP_0003270

Abdominal distention can be a secondary feature associated with a number of conditions such as bowel obstruction.


parents

abnormality of the abdomen


synonyms

abdominal distension

abdominal swelling

abdominal pain

http://purl.obolibrary.org/obo/HP_0002027

Pain perceived to originate in the abdomen.


parents

pain

abdominal skin

http://www.ebi.ac.uk/efo/EFO_0000214

The skin or integument surrounding the abdomen.


parents

animal component


synonyms

Abdomen Skin

Abdominal symptom

http://purl.obolibrary.org/obo/HP_0011458


parents

abnormality of the abdomen


children

Nausea

Abetalipoproteinemia

http://www.orpha.net/ORDO/Orphanet_14


parents

Rare hereditary metabolic disease with peripheral neuropathy

Hypobetalipoproteinemia

Genetic intestinal disease due to fat malabsorption

Neurometabolic disease

Autosomal recessive metabolic cerebellar ataxia

Constitutional hemolytic anemia due to acanthocytosis

Metabolic disease with pigmentary retinitis


synonyms

Bassen-Kornzweig disease

Homozygous familial hypobetalipoproteinemia

Ablepharon macrostomia syndrome

http://www.orpha.net/ORDO/Orphanet_920

Ablepharon macrostomia syndrome is an extremely rare multiple congenital malformation syndrome characterized by the association of ablepharon, macrostomia, abnormal external ears, syndactyly of the hands and feet, skin findings (such as dry and coarse skin or redundant folds of skin), absent or sparse hair, genital malformations and developmental delay (in 2/3 of cases). Other reported manifestations include malar hypoplasia, absent or hypoplastic nipples, umbilical abnormalities and growth retardation. It is a mainly sporadic disorder, although a few familial cases having been reported, and it displays significant clinical overlap with Fraser syndrome (see this term).


parents

Syndromic developmental defect of the eye

Orofacial clefting syndrome

Genetic multiple congenital anomalies/dysmorphic syndrome - variable intellectual disability

Microblepharon - ablephara

abnormal

http://purl.obolibrary.org/obo/PATO_0000460


parents

deviation(from_normal)


children

pathological

Abnormal eye movements

http://www.orpha.net/ORDO/Orphanet_98691


parents

Genetic neuro-ophthalmological disease


children

Adult-onset autosomal dominant leukodystrophy

Alexander disease

Kufor-Rakeb syndrome

Pelizaeus-Merzbacher disease

Abnormal glucose homeostasis

http://purl.obolibrary.org/obo/HP_0011014


parents

abnormality of carbohydrate metabolism/homeostasis


children

Abnormality of blood glucose concentration

abnormal glucose tolerance

http://www.ebi.ac.uk/efo/EFO_0002546


parents

sign or symptom

abnormality of blood and blood-forming tissues

http://purl.obolibrary.org/obo/HP_0001871

An abnormality of the hematopoietic system.


parents

phenotype


children

disseminated intravascular coagulation

hemorrhage

Venous thrombosis


synonyms

abnormality of the hematopoietic system

hematological abnormality

Abnormality of blood glucose concentration

http://purl.obolibrary.org/obo/HP_0011015


parents

Abnormal glucose homeostasis


children

Hyperglycemia

Hypoglycemia

abnormality of body weight

http://purl.obolibrary.org/obo/HP_0004323

An abnormal increase or decrease of weight or an abnormal distribution of mass in the body.


parents

growth abnormality


children

weight loss

abnormality of carbohydrate metabolism/homeostasis

http://purl.obolibrary.org/obo/HP_0011013


parents

phenotype


children

Abnormal glucose homeostasis

Abnormality of gastrointestinal vasculature

http://purl.obolibrary.org/obo/HP_0004296


parents

abnormality of the gastrointestinal tract

abnormality of metabolism/homeostasis

http://purl.obolibrary.org/obo/HP_0001939


parents

phenotype


children

abnormality of temperature regulation

hypoalbuminemia

Abnormality of muscle physiology

http://purl.obolibrary.org/obo/HP_0011804


parents

abnormality of the musculature


children

Myalgia

abnormality of temperature regulation

http://purl.obolibrary.org/obo/HP_0004370

An abnormality of temperature homeostasis.


parents

abnormality of metabolism/homeostasis


children

fever

abnormality of the abdomen

http://purl.obolibrary.org/obo/HP_0001438

Abnormality of the abdomen ('belly'), that is, the part of the body between the pelvis and the thorax.


parents

phenotype


children

abdominal distention

Abdominal symptom

abnormality of the gastrointestinal tract

ascites

bile duct inflammation

constipation

diarrhea

Abnormality of the bladder

http://purl.obolibrary.org/obo/HP_0000014


parents

phenotype


children

Urinary incontinence

abnormality of the central nervous system

http://purl.obolibrary.org/obo/HP_0000707


parents

phenotype


children

cerebral degeneration

Abnormality of the endocrine system

http://purl.obolibrary.org/obo/HP_0000818


parents

phenotype


children

Abnormality of the thyroid gland

abnormality of the gastrointestinal tract

http://purl.obolibrary.org/obo/HP_0011024

An abnormality of the gastrointestinal tract.


parents

abnormality of the abdomen


children

Abnormality of gastrointestinal vasculature

Functional abnormality of the gastrointestinal tract

gastrointestinal hemorrhage

gastrointestinal inflammation

gastrointestinal obstruction

intestinal necrosis

megacolon

rectal bleeding

rectal prolapse

Recurrent infection of the gastrointestinal tract

abnormality of the immune system

http://purl.obolibrary.org/obo/HP_0002715

An abnormality of the immune system. The immune system is composed of organs and interdependent cell types that collectively protect the body from infections and from the growth of tumor cells. The organs of the immune system comprise the bone marrow, the spleen, the thymus,the lymph nodes, and the cell types comprise B cells, T cells, natural killer cells, granulocytes,dendritic cells, and macrophages.


parents

phenotype


children

abnormality of the lymphatic system

inflammation

recurrent infection

sepsis

abnormality of the integument

http://purl.obolibrary.org/obo/HP_0001574

An abnormality of the integument, which consists of the skin and the superficial fascia.


parents

phenotype


children

abnormality of the skin

abnormality of the lung

http://purl.obolibrary.org/obo/HP_0002088


parents

phenotype


children

obstructive lung disease

abnormality of the lymphatic system

http://purl.obolibrary.org/obo/HP_0100763

An anomaly of the lymphatic system, a network of lymphatic vessels that carry a clear fluid called lymph unidirectionally towards either the right lymphatic duct or the thoracic duct, which in turn drain into the right and left subclavian veins respectively.


parents

abnormality of the immune system


children

lymphadenitis

abnormality of the musculature

http://purl.obolibrary.org/obo/HP_0003011


parents

phenotype


children

Abnormality of muscle physiology

abnormality of the nose

http://purl.obolibrary.org/obo/HP_0000366


parents

phenotype


children

Nasal obstruction

abnormality of the respiratory system

http://purl.obolibrary.org/obo/HP_0002086


parents

phenotype


children

Cough

abnormality of the skeletal system

http://purl.obolibrary.org/obo/HP_0000924

An abnormality of the skeletal system.


parents

phenotype


children

arthralgia

osteopenia

abnormality of the skin

http://purl.obolibrary.org/obo/HP_0000951

An abnormality of the skin.


parents

abnormality of the integument


children

Eczema

Pruritus

skin tags

Skin ulcer


synonyms

dermatopathy

dermopathy

Abnormality of the thyroid gland

http://purl.obolibrary.org/obo/HP_0000820


parents

Abnormality of the endocrine system

abnormality of the urinary system physiology

http://purl.obolibrary.org/obo/HP_0011277


parents

phenotype


children

abnormal renal physiology

Abnormality of the vasculature

http://purl.obolibrary.org/obo/HP_0002597


parents

abnormal phenotype of the cardiovascular system


children

Venous abnormality

abnormal phenotype of the cardiovascular system

http://purl.obolibrary.org/obo/HP_0001626

Any abnormality of the `cardiovascular system` (FMA:7161).


parents

cardiovascular disease

phenotype


children

Abnormality of the vasculature

coronary artery raised atherosclerotic lesion

phenotypic abnormality of the aorta

prolonged QT interval

abnormal renal physiology

http://purl.obolibrary.org/obo/HP_0012211


parents

abnormality of the urinary system physiology


children

polyuria

Abruzzo-Erickson syndrome

http://www.orpha.net/ORDO/Orphanet_921


parents

Orofacial clefting syndrome

Syndromic urogenital tract malformation

Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability


synonyms

Cleft palate - coloboma - deafness

abscess

http://www.ebi.ac.uk/efo/EFO_0003030


parents

bacterial disease


synonyms

abscess (disorder)

abscess morphology

abscess NOS

abscess NOS (disorder)

abscisic acid

http://purl.obolibrary.org/obo/CHEBI_22152

An apo carotenoid sesquiterpenoid that has formula C15H20O4.


parents

acid


synonyms

(2Z,4E)-5-(1-hydroxy-2,6,6-trimethyl-4-oxocyclohex-2-en-1-yl)-3-methylpenta-2,4-dienoic acid

Abscisinsaeure

Abszisinsaeure

acide abscissique

acido abscisico

C15H20O4

CC(\\C=C\\C1(O)C(C)=CC(=O)CC1(C)C)=C\\C(O)=O

InChI=1/C15H20O4/c1-10(7-13(17)18)5-6-15(19)11(2)8-12(16)9-14(15,3)4/h5-8,19H,9H2,1-4H3,(H,17,18)/b6-5+,10-7-/f/h17H

InChIKey=JLIDBLDQVAYHNE-RGWLVKBGDZ

Absence deformity of leg - cataract

http://www.orpha.net/ORDO/Orphanet_2310

Absence deformity of leg – cataract is a very rare syndromic limb malformation described in two distantly related boys. It is characterized by absence deformity of the left leg, progressive scoliosis, short stature, congenital cataract associated with dysplasia of the optic nerve. No intellectual deficit has been observed.


parents

Genetic syndrome with limb reduction defects

Absence of fingerprints - congenital milia

http://www.orpha.net/ORDO/Orphanet_1658


parents

Other genetic epidermal disease


synonyms

Absence of dermatoglyphics - congenital milia

Baird syndrome

Absent thumb - short stature - immunodeficiency

http://www.orpha.net/ORDO/Orphanet_2951


parents

Combined T and B cell immunodeficiency

Absent tibia - polydactyly

http://www.orpha.net/ORDO/Orphanet_988


parents

Genetic syndrome with limb reduction defects

Absent tibia - polydactyly - arachnoid cyst

http://www.orpha.net/ORDO/Orphanet_3328

Tibia absent - polydactyly - arachnoid cyst syndrome is a very rare constellation of multiple anomalies, including absence or hypoplasia of the tibia.


parents

Syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy

Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability

Genetic syndrome with limb reduction defects


synonyms

Holmes-Collins syndrome

AB SOLiD 4hq System

http://www.ebi.ac.uk/efo/EFO_0004441


parents

high throughput sequencer

AB SOLiD 4 System

http://www.ebi.ac.uk/efo/EFO_0004438


parents

high throughput sequencer

AB SOLiD 5500

http://www.ebi.ac.uk/efo/EFO_0004440


parents

high throughput sequencer

AB SOLiD 5500xl

http://www.ebi.ac.uk/efo/EFO_0004436


parents

high throughput sequencer

AB SOLiD PI System

http://www.ebi.ac.uk/efo/EFO_0004437


parents

high throughput sequencer

AB SOLiD System

http://www.ebi.ac.uk/efo/EFO_0004435


parents

high throughput sequencer

AB SOLiD System 2.0

http://www.ebi.ac.uk/efo/EFO_0004442


parents

high throughput sequencer

AB SOLiD System 3.0

http://www.ebi.ac.uk/efo/EFO_0004439


parents

high throughput sequencer

absorbed dose unit

http://purl.obolibrary.org/obo/UO_0000129

A derived unit which is a standard measure of the energy imparted by ionizing radiation to unit mass of matter such as tissue.

A unit which is a standard measure of the energy imparted by ionizing radiation to unit mass of matter such as tissue.


parents

radiation unit


children

Gray

Acanthamoeba polyphaga mimivirus

http://purl.obolibrary.org/obo/NCBITaxon_212035


parents

Virus


synonyms

Acanthomoeba polyphaga mimivirus

Mimi

Acanthopleura

http://purl.obolibrary.org/obo/NCBITaxon_61362


parents

Eukaryota

Acanthosis nigricans - Insulin resistance - muscle cramps - acral enlargement

http://www.orpha.net/ORDO/Orphanet_90301


parents

Rare insulin-resistance syndrome

Other genetic epidermal disease

acarbose

http://purl.obolibrary.org/obo/CHEBI_2376


parents

chemical compound


synonyms

4,6-dideoxy-4-{[(1S,4S,5S,6S)-4,5,6-trihydroxy-3-(hydroxymethyl)cyclohex-2-en-1-yl]amino}-alpha-D-glucopyranosyl-(1->4)-alpha-D-glucopyranosyl-(1->4)-D-glucose

acarbosa

acarbose

Acarbose

acarbosum

C25H43NO18

Glucobay

Precose

Acatalasemia

http://www.orpha.net/ORDO/Orphanet_926


parents

Disorder of peroxisomal alpha-, beta- and omega-oxidation


synonyms

Catalase deficiency

acatalasia

http://www.ebi.ac.uk/efo/EFO_0004144

Acatalasia is an autosomal recessive peroxisomal disorder caused by a complete lack of catalase. The disorder is relatively benign, although it causes an increased incidence of periodontal infections, and can under rare circumstances lead to gangrene.


parents

metabolic disease

accelerated neurological senescence

http://www.ebi.ac.uk/efo/EFO_0002495


parents

Accessory pancreas

http://www.orpha.net/ORDO/Orphanet_674


parents

Non-syndromic visceral malformation

acenocoumarol

http://purl.obolibrary.org/obo/CHEBI_53766


parents

drug


synonyms

3-(alpha-(4'-Nitrophenyl)-beta-acetylethyl)-4-hydroxycoumarin

3-(alpha-(p-Nitrophenol)-beta-acetylethyl)-4-hydroxycoumarin

3-(alpha-Acetonyl-4-nitrobenzyl)-4-hydroxycoumarin

3-(alpha-Acetonyl-p-nitrobenzyl)-4-hydroxycoumarin

3-(alpha-p-Nitrophenyl-beta-acetylethyl)-4-hydroxycoumarin

4-Hydroxy-3-(1-(4-nitrophenyl)-3-oxobutyl)-2H-1-benzopyran-2-one

4-hydroxy-3-[1-(4-nitrophenyl)-3-oxobutyl]-2H-chromen-2-one

4-Hydroxy-3-[1-(4-nitrophenyl)-3-oxobutyl]-2H-chromen-2-one

Acenocoumarin

acenocoumarolum

Acenocumarolo

Acenokumarin

C19H15NO6

Nicoumalone

Nicumalon

Nitrophenylacetylethyl-4-hydroxycoumarine

Nitrovarfarian

Nitrowarfarin

Aceruloplasminemia

http://www.orpha.net/ORDO/Orphanet_48818

Aceruloplasminemia is an adult-onset disorder of neurodegeneration with brain iron accumulation (NBIA; see this term) characterized by anemia, retinal degeneration, diabetes and various neurological symptoms.


parents

Disorder of iron metabolism and transport

Neurodegeneration with brain iron accumulation

Retinal dystrophy

Constitutional anemia due to iron metabolism disorder

Metabolic disease with pigmentary retinitis


synonyms

Hereditary ceruloplasmin deficiency

acetaldehyde

http://purl.obolibrary.org/obo/CHEBI_15343


parents

chemical compound


synonyms

Acetaldehyd

acetaldehyde

Acetaldehyde

ACETALDEHYDE

acetaldehydes

acetic aldehyde

Azetaldehyd

C2H4O

Ethanal

ethyl aldehyde

acetate

http://purl.obolibrary.org/obo/CHEBI_30089

The conjugate base of acetic acid.


parents

chemical compound


synonyms

ACETATE ION

acetic acid, ion(1-)

Azetat

C2H3O2

CC([O-])=O

CH3-COO(-)

Ethanoat

ethanoate

InChI=1/C2H4O2/c1-2(3)4/h1H3,(H,3,4)/p-1/fC2H3O2/q-1

InChIKey=QTBSBXVTEAMEQO-KSORUIRRCC

MeCO2 anion

acetazolamide

http://purl.obolibrary.org/obo/CHEBI_27690


parents

chemical compound


synonyms

2-acetylamino-1,3,4-thiadiazole-5-sulfonamide

5-ACETAMIDO-1,3,4-THIADIAZOLE-2-SULFONAMIDE

5-acetylamino-1,3,4-thiadiazole-2-sulfonamide

acetazolamida

acetazolamide

Acetazolamide

acetazolamidum

C4H6N4O3S2

Defiltran

Diacarb

Diamox

Diluran

Glaupax

N-(5-sulfamoyl-1,3,4-thiadiazol-2-yl)acetamide

N-[5-(aminosulfonyl)-1,3,4-thiadiazol-2-yl]acetamide

N-[5-(aminosulfonyl)-1,3,5-thiadiazol-2-yl]acetamide

Acetazolamide-responsive myotonia

http://www.orpha.net/ORDO/Orphanet_99736

Acetazolamide-responsive myotonia is a form of potassium-aggravated myotonia (PAM, see this term) which shows dramatic improvement with the use of acetazolamide (ACZ).


parents

Potassium-aggravated myotonia


synonyms

Acetazolamide-responsive congenital myotonia

ACZ-responsive congenital myotonia

ACZ-responsive myotonia

Myotonia - painful contractions

Painful congenital myotonia

Painful myotonia

acetic acid

http://purl.obolibrary.org/obo/CHEBI_15366

A simple carboxylic acid containing two carbons; the active ingredient in vinegar. The building block of natural fatty acids which, unlike them, does not occur in natural triglycerides. Reported to suppress accumulation of body fat and liver lipids in mice.


parents

acid


synonyms

acide acetique

C2H4O2

C2 Mouse

CC(O)=O

CH3-COOH

Essigsaeure

Ethanoic acid

ethoic acid

Ethylic acid

HOAc

InChI=1/C2H4O2/c1-2(3)4/h1H3,(H,3,4)/f/h3H

InChIKey=QTBSBXVTEAMEQO-TULZNQERCK

Methanecarboxylic acid

acetoacetate

http://purl.obolibrary.org/obo/CHEBI_13705

Complement component-4 (1744 aa, ~193 kDa) is part of the complement cascade, which mediates the innate immune response to infection. The full length protein is a precursor that can is secreted as a trimeric molecule containing an alpha, beta and gamma chain. When the complement cascade is initiated, the protein is cleaved. This proteolysis releases both the alpha chain, C4 anaphylatoxin, which stimulates inflammation, and a dimer of the beta and gamma chains, which mediates the interaction between the antigen-antibody complex and other complement components.

The determination of the amount of complement C4 present in a sample.


parents

chemical compound


synonyms

3-oxobutanoate

Acetoacetate ion(1-)

Butanoic acid, 3-oxo-, ion(1-)

C4H5O3

CC(=O)CC([O-])=O

Complement C4

Complement Component-4

InChI=1/C4H6O3/c1-3(5)2-4(6)7/h2H2,1H3,(H,6,7)/p-1/fC4H5O3/q-1

InChIKey=WDJHALXBUFZDSR-TZWAVNMPCM

Acetobacter aceti

http://purl.obolibrary.org/obo/NCBITaxon_435


parents

Bacteria


synonyms

Acetimonas aceti

Acetobacter (subgen. Acetobacter) aceti

Acetobacter aceti aceti

Acetobacter aceti orleanensis

Acetobacter aceti subsp. aceti

Acetobacter aceti var. muciparum

Acetobacter ketogenum

Acetobacter lafarianum

Bacillus aceticus

Bacteriopsis aceti

Bacterium aceti

Bacterium acetigenoidum

Bacterium hansenianum

Micrococcus aceti

Mycoderma aceti souches non visqueuses (membraneuses)

acetone

http://purl.obolibrary.org/obo/CHEBI_15347

A propanone that has formula C3H6O.


parents

chemical compound


synonyms

2-Propanone

Aceton

Azeton

C3H6O

CC(C)=O

dimethylcetone

Dimethylketon

Dimethyl ketone

InChI=1/C3H6O/c1-3(2)4/h1-2H3

InChIKey=CSCPPACGZOOCGX-UHFFFAOYAF

methyl ketone

propan-2-one

Propanon

propanone

acetonitrile

http://purl.obolibrary.org/obo/CHEBI_38472

A nitrile that has formula C2H3N.


parents

chemical compound


synonyms

C2H3N

C2 Mouse

CC#N

CH3-C#N

cyanomethane

ethanenitrile

InChI=1/C2H3N/c1-2-3/h1H3

InChIKey=WEVYAHXRMPXWCK-UHFFFAOYAJ

MeCN

methyl cyanide

NCMe

acetylcholinesterase inhibitor

http://purl.obolibrary.org/obo/CHEBI_38462

Any substance that inhibits the enzyme acetylcholinesterase from breaking down acetylcholine into choline and acetic acid.


parents

enzyme inhibitor


synonyms

acetylcholine esterase inhibitor

acetylcholinesterase inhibitors

AChEI

acetylsalicylic acid

http://purl.obolibrary.org/obo/CHEBI_15365


parents

drug

acid


synonyms

2-(acetyloxy)benzoic acid

2-(ACETYLOXY)BENZOIC ACID

2-Acetoxybenzenecarboxylic acid

2-acetoxybenzoic acid

Acetylsalicylate

Acetylsalicylic acid

Acetylsalicylsaeure

acide 2-(acetyloxy)benzoique

acide acetylsalicylique

acido acetilsalicilico

acidum acetylsalicylicum

ASA

Aspirin

Azetylsalizylsaeure

C9H8O4

Easprin

o-acetoxybenzoic acid

O-acetylsalicylic acid

o-carboxyphenyl acetate

salicylic acid acetate

Achalasia - microcephaly

http://www.orpha.net/ORDO/Orphanet_929


parents

Genetic syndromic esophageal malformation

Acheiria

http://www.orpha.net/ORDO/Orphanet_294983


parents

Terminal limb defects


children

Acheiria, bilateral

Acheiria, unilateral


synonyms

Absent hand

Acheiria, bilateral

http://www.orpha.net/ORDO/Orphanet_295103


parents

Acheiria


synonyms

Absent hand, bilateral

Acheiria, unilateral

http://www.orpha.net/ORDO/Orphanet_295101


parents

Acheiria


synonyms

Absent hand, unilateral

Acheiropodia

http://www.orpha.net/ORDO/Orphanet_931


parents

Terminal limb defects


children

Adactyly of foot, bilateral

Adactyly of foot, unilateral


synonyms

Acheiropody

Toes absent

ACHN

http://www.ebi.ac.uk/efo/EFO_0002108


parents

cancer cell line

kidney derived cell line

Homo sapiens cell line

Achondrogenesis

http://www.orpha.net/ORDO/Orphanet_932

Achondrogenesis describes a rare group of lethal skeletal dysplasias characterized by an endochondral ossification deficiency that leads to dwarfism with extreme micromelia, a small thorax, a prominent abdomen, anasarca and polyhydramnios. There are three types of achondrogenesis that exist and that differ clinically, radiologically, histologically and genetically: achondrogensis type 1a, type 1b and type 2 (see these terms).


parents

Spondylodysplastic dysplasia


children

Achondrogenesis type 1A

Achondrogenesis type 1B

Achondrogenesis type 2

Hypochondrogenesis

Achondrogenesis type 1A

http://www.orpha.net/ORDO/Orphanet_93299

Achondrogenesis type 1A (ACG1A), a form of achondrogenesis (see this term), is a very rare, lethal skeletal dysplasia characterized by dwarfism with extremely short limbs, narrow chest, short ribs that are easily fractured, soft skull bones and distinctive histological features of the cartilage.


parents

Achondrogenesis


synonyms

Achondrogenesis, Houston-Harris type

Achondrogenesis type 1B

http://www.orpha.net/ORDO/Orphanet_93298

Achondrogenesis type 1B (ACG1B), a form of achondrogenesis (see this term), is a rare lethal skeletal dysplasia characterized by severe micromelia with very short fingers and toes, a flat face, a short neck, thickened soft tissue around the neck, hypoplasia of the thorax, protuberant abdomen, a hydropic fetal appearance and distinctive histological features of the cartilage.


parents

Achondrogenesis

Sulfation-related bone disorder


synonyms

Achondrogenesis, Parenti-Fraccaro type

Achondrogenesis type 2

http://www.orpha.net/ORDO/Orphanet_93296

Achondrogenesis type 2 (ACG2), a form of achondrogenesis (see this term), is a very rare and lethal skeletal dysplasia and part of the spectrum of type 2 collagen-related bone disorders (see this term), characterizedby severe micromelia, short neck with large head, small thorax, protuberant abdomen, underdeveloped lungs, distinctive facial features such as a prominent forehead, a small chin, a cleft palate (in some) and distinctive histological features of the cartilage.


parents

Achondrogenesis

Type 2 collagen-related bone disorder


synonyms

Achondrogenesis, Langer-Saldino type

Achondroplasia

http://www.orpha.net/ORDO/Orphanet_15

Achondroplasia is the most common form of chondrodysplasia, characterized by rhizomelia, exaggerated lumbar lordosis, brachydactyly, and macrocephaly with frontal bossing and midface hypoplasia.


parents

cartilage disease

Primary bone dysplasia with micromelia

FGFR3-related chondrodysplasia

Achromatopsia

http://www.orpha.net/ORDO/Orphanet_49382

Achromatopsia (ACHM) is a rare autosomal recessive retinal disorder characterized by color blindness, nystagmus, photophobia, and severely reduced visual acuity due to the absence or impairment of cone function.


parents

Syndromic myopia

Color-vision disease


synonyms

ACHM

Complete or incomplete color blindness

Pingelapese blindness

Rod monochromacy

Rod monochromatism

Total color blindness

acid

http://www.ebi.ac.uk/efo/EFO_0004416


parents

chemical compound


children

(+)-abscisic acid

(15Z)-12-oxophyto-10,15-dienoic acid

(2,4-dichlorophenoxy)acetic acid

(9R,13R)-12-oxo-phytodienoic acid

1-(2,4-dichlorobenzyl)-1H-indazole-3-carboxylic acid

10-trans,12-cis-octadecadienoic acid

1-aminocyclopropane-1-carboxylic acid

1-naphthylacetic acid

3-nitropropionic acid

4-phenylbutyric acid

7-chlorokynurenic acid

abscisic acid

acetic acid

acetylsalicylic acid

alendronic acid

all-cis-icosa-5,8,11,14,17-pentaenoic acid

amino acid

arachidonic acid

aristolochic acid

benzoic acid

bromochloroacetic acid

cholic acid

clofibric acid

docosahexaenoic acid

flufenamic acid

folic acid

Hexadecanoic acid

hydrochloric acid

hypochlorous acid

indole-3-acetic acid

jasmonic acid

kainic acid

L-ascorbic acid

latanoprost free acid

linoleic acids

lipoteichoic Acid

N-methyl-D-aspartic acid

oxamic acid

pirinixic acid

retinoic acid

salicylic acid

uric acid

valproic acid

Acidithiobacillus ferrooxidans

http://purl.obolibrary.org/obo/NCBITaxon_920


parents

Bacteria


synonyms

Acidithiobacillus ferroxidans

Ferrobacillus ferrooxidans

Ferrobacillus sulfooxidans

Thiobacillus ferrooxidans

Thiobacillus ferrooxidans@

Tiobacillus ferroxidant

Acidithiobacillus ferrooxidans ATCC 23270

http://purl.obolibrary.org/obo/NCBITaxon_243159


parents

Bacteria


synonyms

Acidithiobacillus ferrooxidans str. ATCC 23270

Acid phosphatase deficiency

http://www.orpha.net/ORDO/Orphanet_35121


parents

Lysosomal disease

acinar cell

http://purl.obolibrary.org/obo/CL_0000622

A secretory cell that is grouped together with other cells of the same type to form grape shaped clusters known as acini (singular acinus).


parents

secretory cell

pancreatic cell


synonyms

acinic cell

acinous cell

acinar cell carcinoma

http://www.ebi.ac.uk/efo/EFO_0000216

A malignant glandular epithelial neoplasm consisting of secretory cells forming acinar patterns. Representative examples include the acinar cell carcinoma of the pancreas and the acinar adenocarcinoma of the prostate gland.

A malignant tumor arising from secreting cells of a racemose gland, particularly the salivary glands. Racemose (Latin racemosus, full of clusters) refers, as does acinar (Latin acinus, grape), to small saclike dilatations in various glands. Acinar cell carcinomas are usually well differentiated and account for about 13% of the cancers arising in the parotid gland. Lymph node metastasis occurs in about 16% of cases. Local recurrences and distant metastases many years after treatment are common. This tumor appears in all age groups and is most common in women. (Stedman, 25th ed; Holland et al., Cancer Medicine, 3d ed, p1240; from DeVita Jr et al., Cancer: Principles & Practice of Oncology, 3d ed, p575)


parents

carcinoma


synonyms

Acinar adenocarcinoma

Acinar Carcinoma

Acinar Carcinomas

Acinar Cell Adenocarcinoma

Acinar Cell Adenocarcinomas

acinar cell carcinoma (morphologic abnormality)

Acinar Cell Carcinomas

Acinic Cell Adenocarcinoma

Acinic Cell Adenocarcinomas

Acinic Cell Carcinoma

Acinic Cell Carcinomas

Acinic Cell Tumor

Acinic Cell Tumors

Adenocarcinoma, Acinar Cell

Adenocarcinoma, Acinic Cell

Adenocarcinomas, Acinar Cell

Adenocarcinomas, Acinic Cell

Carcinoma, Acinar

Carcinoma, Acinar Cell

Carcinoma, Acinic Cell

Carcinomas, Acinar

Carcinomas, Acinar Cell

Carcinomas, Acinic Cell

Serous Acinar Adenoma

Tumor, Acinic Cell

Tumors, Acinic Cell

Acinetobacter baumannii

http://purl.obolibrary.org/obo/NCBITaxon_470


parents

Bacteria


synonyms

Acinetobacter baumanii

Acinetobacter baumanni

Acinetobacter genomosp. 2

Acinetobacter genomospecies 2

Bacterium anitratum

Ackerman syndrome

http://www.orpha.net/ORDO/Orphanet_2561


parents

Genetic malformation syndrome with odontal and/or periodontal component

Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability

Ectodermal dysplasia syndrome


synonyms

Pyramidal molar - glaucoma - upper abnormal lip

acne

http://www.ebi.ac.uk/efo/EFO_0003894

A chronic disorder of the pilosebaceous apparatus associated with an increase in sebum secretion. It is characterized by open comedones (blackheads), closed comedones (whiteheads), and pustular nodules. The cause is unknown, but heredity and age are predisposing factors.


parents

skin disease


synonyms

Acne Vulgaris

acquired long QT syndrome

http://www.ebi.ac.uk/efo/EFO_0005138

A form of long QT syndrome in which malfunction of the cardiac ion channels is caused by drugs or metabolic abnormalities. Common genetic variation may influence susceptibility to acquired long QT syndrome.


parents

prolonged QT interval

Acquired porencephaly

http://www.orpha.net/ORDO/Orphanet_314697


parents

Porencephaly

Acral dystrophic epidermolysis bullosa

http://www.orpha.net/ORDO/Orphanet_158673

Acral dystrophic epidermolysis bullosa is a very rare subtype of dystrophic epidermolysis bullosa (DEB, see this term) characterized by blistering confined primarily to the hands and feet.


parents

Dystrophic epidermolysis bullosa


synonyms

DEB, acral

DEB-ac

Acral peeling skin syndrome

http://www.orpha.net/ORDO/Orphanet_263534

Acral peeling skin syndrome (PSS) is a form of PSS (see this term) characterized by superficial peeling of the skin predominantly affecting the dorsa of the hands and feet.


parents

Peeling skin syndrome


synonyms

Acral deciduous skin

Acral PSS

Localized deciduous skin

Localized PSS

Acral self-healing collodion baby

http://www.orpha.net/ORDO/Orphanet_281127

Acral self-healing collodion baby (SHCB) is a variant of SHCB (see this term) characterized by the presence at birth of a collodion membrane only at the extremities.


parents

Autosomal recessive congenital ichthyosis


synonyms

Acral SHCB

Acrocallosal syndrome

http://www.orpha.net/ORDO/Orphanet_36

Acrocallosal syndrome (ACS) is a polymalformative syndrome characterized by agenesis of corpus callosum (CC), distal anomalies of limbs, minor craniofacial anomalies and intellectual deficit.


parents

Multiple congenital anomalies/dysmorphic syndrome-intellectual disability

Rare genetic intellectual disability with developmental anomaly

Genetic syndrome with corpus callosum agenesis/dysgenesis as a major feature

Syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy


synonyms

ACS

Acrocapitofemoral dysplasia

http://www.orpha.net/ORDO/Orphanet_63446

Acrocapitofemoral dysplasia is a recently delineated skeletal dysplasia, characterized clinically by short stature of variable degrees with short limbs, brachydactyly and narrow thorax.


parents

Acromelic dysplasia

Acro-cardio-facial syndrome

http://www.orpha.net/ORDO/Orphanet_2008

Acro-cardio-facial syndrome (ACFS) is a rare genetic disorder characterized by split-hand/split-foot malformation (SHFM), facial anomalies, cleft lip/palate, congenital heart defect (CHD), genital anomalies, and intellectual deficit.


parents

Multiple congenital anomalies/dysmorphic syndrome-intellectual disability

Orofacial clefting syndrome

Rare genetic intellectual disability with developmental anomaly


synonyms

ACFS

CCGE syndrome

Cleft palate - cardiac defect - genital anomalies - ectrodactyly

Acrocephalopolydactyly

http://www.orpha.net/ORDO/Orphanet_221054


parents

Syndromic craniosynostosis


synonyms

Acrocephalopolydactylous dysplasia

Elejalde syndrome

acrocephalosyndactylia

http://www.ebi.ac.uk/efo/EFO_0004123

A synostosis that results in craniosynostosis and syndactyly.


parents

skeletal system disease

Acrocephalosyndactyly

http://www.orpha.net/ORDO/Orphanet_946

Acrocephalosyndactyly (ACS) syndromes represent a group of inherited congenital malformation disorders characterized by craniosynostosis and fusion or webbing of the fingers or toes, often with other associated manifestations.


parents

Syndromic craniosynostosis


children

Apert syndrome

Pfeiffer syndrome

Saethre-Chotzen syndrome


synonyms

ACS

Acrocraniofacial dysostosis

http://www.orpha.net/ORDO/Orphanet_949


parents

Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability

Acrofacial dysostosis


synonyms

Kaplan-Plauchu-Fitch syndrome

Acrodermatitis continua suppurativa of Hallopeau

http://www.orpha.net/ORDO/Orphanet_163931


parents

Unclassified genetic skin disorder

Acrodermatitis enteropathica

http://www.orpha.net/ORDO/Orphanet_37

Acrodermatitis enteropathica (AE) is a rare inherited inborn error of metabolism resulting in a severe zinc deficiency and characterized by acral dermatitis, alopecia, diarrhea and growth failure.


parents

Malformation syndrome with skin/mucosae involvement

Disorder of zinc metabolism

Genetic intestinal disease due to fat malabsorption

Metabolic disease with skin involvement


synonyms

AE

AEZ

Inherited zinc deficiency

Acrodysostosis

http://www.orpha.net/ORDO/Orphanet_950


parents

Mandibulofacial dysostosis

Acromelic dysplasia


synonyms

Acrodysplasia

Arkless-Graham syndrome

Maroteaux-Malamut syndrome

Acrodysostosis with multiple hormone resistance

http://www.orpha.net/ORDO/Orphanet_280651


parents

Mandibulofacial dysostosis

Genetic polyendocrinopathy

Acrofacial dysostosis

Acrofacial dysostosis

http://www.orpha.net/ORDO/Orphanet_364574


parents

Dysostosis with limb and face anomalies as a major feature

Syndrome with brachydactyly


children

Acrocraniofacial dysostosis

Acrodysostosis with multiple hormone resistance

Acrofacial dysostosis, Catania type

Acrofacial dysostosis, Kennedy-Teebi type

Acrofacial dysostosis, Palagonia type

Acrofacial dysostosis, Rodríguez type

Acrofacial dysostosis, Weyers type

Acro-fronto-facio-nasal dysostosis

Acromelic frontonasal dysplasia

Craniofrontonasal dysplasia

Mandibulofacial dysostosis-microcephaly syndrome

Nager syndrome

Patterson-Stevenson-Fontaine syndrome

Postaxial acrofacial dysostosis

X-linked mandibulofacial dysostosis

Acrofacial dysostosis, Catania type

http://www.orpha.net/ORDO/Orphanet_1786


parents

Multiple congenital anomalies/dysmorphic syndrome-intellectual disability

Genetic branchial arch or oral-acral syndrome

Rare genetic intellectual disability with developmental anomaly

Acrofacial dysostosis


synonyms

Opitz-Caltabiano syndrome

Acrofacial dysostosis, Kennedy-Teebi type

http://www.orpha.net/ORDO/Orphanet_64542


parents

Genetic branchial arch or oral-acral syndrome

Acrofacial dysostosis


synonyms

Kennedy-Teebi syndrome

Acrofacial dysostosis, Palagonia type

http://www.orpha.net/ORDO/Orphanet_1787


parents

Genetic branchial arch or oral-acral syndrome

Acrofacial dysostosis

Acrofacial dysostosis, Rodríguez type

http://www.orpha.net/ORDO/Orphanet_1788


parents

Multiple congenital anomalies/dysmorphic syndrome-intellectual disability

Genetic branchial arch or oral-acral syndrome

Rare genetic intellectual disability with developmental anomaly

Acrofacial dysostosis

Acrofacial dysostosis, Weyers type

http://www.orpha.net/ORDO/Orphanet_952

Acrofacial dysostosis, Weyers type (WAD) is a rare ectodermal dysplasia syndrome with bone abnormalities, characterized by postaxial polydactyly, onychodystrophy, dental anomalies, and a mild short stature associated with normal intelligence.


parents

Genetic branchial arch or oral-acral syndrome

Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability

Acrofacial dysostosis

Ectodermal dysplasia syndrome


synonyms

Curry-Hall syndrome

Weyers acrodental dysostosis

Weyers acrofacial dysostosis

Acro-fronto-facio-nasal dysostosis

http://www.orpha.net/ORDO/Orphanet_1784

Acro-fronto-facio-nasal dysostosis is a congenital malformation syndrome characterized by the association of facial and skeletal anomalies with severe intellectual deficit and occasional genitourinary anomalies.


parents

Acrofacial dysostosis


synonyms

Richieri-Costa-Colletto syndrome

Acrogeria

http://www.orpha.net/ORDO/Orphanet_2500


parents

Premature aging


synonyms

Acrogeria, Gottron type

Acrometageria

Gottron syndrome

Acrokeratoelastoidosis of Costa

http://www.orpha.net/ORDO/Orphanet_38


parents

Genetic acrokeratoderma

Marginal papular palmoplantar keratoderma


synonyms

AKE

PPKP3

Punctate palmoplantar hyperkeratosis type 3

Punctate palmoplantar keratoderma type 3

Acrokeratosis verruciformis of Hopf

http://www.orpha.net/ORDO/Orphanet_79151


parents

Genetic acrokeratoderma

acrolein

http://purl.obolibrary.org/obo/CHEBI_15368

An enal that has formula C3H4O.

This gene plays a regulatory role in the complement pathway, which is comprised of a complex proteolytic cascade.


parents

chemical compound


synonyms

[H]C(=C)C([H])=O

Acrylaldehyde

Acrylic aldehyde

C3 Gene

C3H4O

Complement Component 3 Gene

InChI=1/C3H4O/c1-2-3-4/h2-3H,1H2

InChIKey=HGINCPLSRVDWNT-UHFFFAOYAQ

Propenal

Acromegaloid facial appearance syndrome

http://www.orpha.net/ORDO/Orphanet_965

Acromegaloid facial appearance (AFA) syndrome is a multiple congenital anomalies/dysmorphic syndrome (see this term) with a probable autosomal dominant inheritance, characterized by a progressively coarse acromegaloid-like facial appearance with thickening of the lips and intraoral mucosa, large and doughy hands and, in some cases, developmental delay. AFA syndrome appears to be part of a phenotypic spectrum that includes hypertrichotic osteochondrodysplasia, Cantu type and hypertrichosis-acromegaloid facial appearance syndrome (see these terms).


parents

Genetic multiple congenital anomalies/dysmorphic syndrome - variable intellectual disability

Acromelic dysplasia

http://www.orpha.net/ORDO/Orphanet_93436


parents

Primary bone dysplasia


children

Acrocapitofemoral dysplasia

Acrodysostosis

Acromicric dysplasia

Angel-shaped phalango-epiphyseal dysplasia

Craniofacial conodysplasia

Geleophysic dysplasia

Intellectual disability - balding - patella luxation - acromicria

Peripheral dysostosis

Saldino-Mainzer syndrome

Terminal osseous dysplasia - pigmentary defects

Trichorhinophalangeal syndrome

Acromelic frontonasal dysplasia

http://www.orpha.net/ORDO/Orphanet_1827


parents

Frontonasal dysplasia

Acrofacial dysostosis


synonyms

Toriello syndrome

Acromesomelic dysplasia

http://www.orpha.net/ORDO/Orphanet_93437


parents

Primary bone dysplasia


children

Acromesomelic dysplasia, Grebe type

Acromesomelic dysplasia, Hunter-Thomson type

Acromesomelic dysplasia, Maroteaux type

Brachydactyly type A6

Fibular aplasia - complex brachydactyly

Mesomelia-synostoses syndrome

Acromesomelic dysplasia, Grebe type

http://www.orpha.net/ORDO/Orphanet_2098


parents

Acromesomelic dysplasia


synonyms

Chondrodysplasia, Grebe type

Acromesomelic dysplasia, Hunter-Thomson type

http://www.orpha.net/ORDO/Orphanet_968


parents

Acromesomelic dysplasia


synonyms

Acromesomelic dwarfism

Acromesomelic dysplasia, Maroteaux type

http://www.orpha.net/ORDO/Orphanet_40


parents

Acromesomelic dysplasia

Acromicric dysplasia

http://www.orpha.net/ORDO/Orphanet_969

Acromicric dysplasia is a rare bone dysplasia characterized by short stature, short hands and feet, mild facial dysmorphism, and characteristic X-ray abnormalities of the hands.


parents

Acromelic dysplasia

Acroosteolysis dominant type

http://www.orpha.net/ORDO/Orphanet_955

Acroosteolysis dominant type (AOD) is a rare genetic osteolysis syndrome characterized by acro-osteolysis of distal phalanges and generalized osteoporosis associated with additional ossification anomalies, craniofacial dysmorphism, dental anomalies and a wide range of other characteristics.


parents

Primary osteolysis

Syndromic renal or urinary tract malformation


synonyms

Acrodentoosteodysplasia

Acroosteolysis with osteoporosis and changes in skull and mandible

Arthrodentoosteodysplasia

Arthro-dento-ostéodysplasie

Cheney syndrome

Hajdu-Cheney syndrome

Acroosteolysis-keloid-like lesions-premature aging syndrome

http://www.orpha.net/ORDO/Orphanet_363665


parents

Genetic progeroid syndrome

Premature aging


synonyms

Premature aging syndrome, Penttinen type

Acro-oto-ocular syndrome

http://www.orpha.net/ORDO/Orphanet_2980

Acro-oto-ocular syndrome is a very rare disorder associating pseudopapilledema (optic disc swelling not secondary to increased intracranial pressure), mixed hearing loss, facial dysmorphism and limb extremity anomalies.


parents

Syndromic developmental defect of the eye

Ptosis


synonyms

Pseudopapilledema - blepharophimosis - hand anomalies

Acro-pectoral syndrome

http://www.orpha.net/ORDO/Orphanet_85203


parents

Syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy


synonyms

ACRP syndrome

Syndactyly - preaxial polydactyly - sternal deformity

Acro-pectoro-renal dysplasia

http://www.orpha.net/ORDO/Orphanet_956


parents

Syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy

Syndromic renal or urinary tract malformation

Acropectorovertebral dysplasia

http://www.orpha.net/ORDO/Orphanet_957


parents

Syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy


synonyms

F syndrome

Acropora millepora

http://purl.obolibrary.org/obo/NCBITaxon_45264


parents

Eukaryota

Acropora palmata

http://purl.obolibrary.org/obo/NCBITaxon_6131


parents

Eukaryota


synonyms

elkhorn coral

Acro-renal-mandibular syndrome

http://www.orpha.net/ORDO/Orphanet_958


parents

Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability


synonyms

Split hand/split foot - mandibular hypoplasia

Acro-renal-ocular syndrome

http://www.orpha.net/ORDO/Orphanet_959

Le syndrome acro-réno-oculaire se caractérise par l'association de malformations oculaires, rénales et des extrémités. Ce syndrome est très rare, il a été décrit dans moins de 20 familles comprenant plusieurs patients atteints à des générations successives. Les anomalies des extrémités intéressent le rayon radial et varient de l'hypoplasie de la phalange distale du pouce avec limitation de mobilité de l'articulation inter-phalangienne à l'hypoplasie sévère du pouce et à la polydactylie pré-axiale (duplication du pouce), parfois associée à une syndactylie des doigts. Les anomalies rénales vont de la malrotation à l'ectopie croisée avec fusion partielle sans vraie forme en fer à cheval ; on peut rencontrer d'autres anomalies de l'arbre urinaire telles que reflux vésico-urétéral et diverticules vésicaux. Les anomalies oculaires comprennent un colobome du nerf optique, un ptosis et/ou une anomalie de Duane (strabisme congénital caractérisé par une limitation du mouvement horizontal de l'oeil, une rétraction du globe et un rétrécissement de la fente palpébrale lors de l'adduction). Une surdité neuro-sensorielle a été décrite chez certains patients ; c'est pourquoi il a été proposé que le syndrome de Okihiro (anomalie de Duane associée à des anomalies du rayon radial et à une surdité) et le syndrome acro-oculo-renal pouvaient constituer une entité unique. Le syndrome acro-oculo-renal se transmet sur le mode autosomique dominant, et une mutation du gène SALL4 (gène identifié chez des patients avec une anomalie de Duane) a été retrouvée dans l'une des familles décrites. Le patient avait, outre l'anomalie de Duane et une atteinte du rayon des membres et des reins, une surdité neuro-sensorielle, ce qui évoque un syndrome de Okihiro.


parents

Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability

Acrorenal syndrome

http://www.orpha.net/ORDO/Orphanet_971

Acro-renal syndrome comprises a wide spectrum of congenital malformative disorders characterized by the co-occurrence of distal limb anomalies (usually bilateral cleft feet and/or hands) and renal defects (e.g. unilateral or bilateral agenesis, ureteral hypoplasias, vesicoureteral reflux), that can be associated with a variety of extra-renal anomalies such as abdominal well defects, intestinal atresias, genital anomalies and lung malformations. Familal cases have been reported in whom an autosomal recessive inheritance was suspected.


parents

Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability

Syndromic renal or urinary tract malformation

acrylamide

http://purl.obolibrary.org/obo/CHEBI_28619

A member of the acrylamides that has formula C3H5NO.

This gene plays a regulatory role in the complement pathway, which is comprised of a complex proteolytic cascade.


parents

amide


synonyms

2-Propenamide

Akrylamid

C3 Gene

C3H5NO

Complement Component 3 Gene

ethylenecarboxamide

InChI=1/C3H5NO/c1-2-3(4)5/h2H,1H2,(H2,4,5)/f/h4H2

InChIKey=HRPVXLWXLXDGHG-LGEMBHMGCJ

NC(=O)C=C

prop-2-enamide

actinic keratosis

http://www.ebi.ac.uk/efo/EFO_0002496


parents

skin disease


synonyms

actinic (Solar) Keratosis

actinic keratosis (disorder)

actinic keratosis (morphologic abnormality)

Senile hyperkeratosis

SK - Solar keratosis

Solar keratosis

Actinobacillus pleuropneumoniae

http://purl.obolibrary.org/obo/NCBITaxon_715


parents

Bacteria


synonyms

Actinobacillus pleuropneumonia

Haemophilus pleuropneumoniae

Actinobacillus pleuropneumoniae serovar 1 str. 4074

http://purl.obolibrary.org/obo/NCBITaxon_228399


parents

Bacteria


synonyms

Actinobacillus pleuropneumoniae 4074

Actinobacillus pleuropneumoniae serovar 1 strain 4074

Actinobacillus pleuropneumoniae serovar 2

http://purl.obolibrary.org/obo/NCBITaxon_34063


parents

Bacteria


synonyms

Actinobacillus pleuropneumoniae 2

Actinobacillus pleuropneumoniae serotype 2

Actinobacillus pleuropneumoniae serovar 3

http://purl.obolibrary.org/obo/NCBITaxon_434270


parents

Bacteria

Actinobacillus pleuropneumoniae serovar 5

http://purl.obolibrary.org/obo/NCBITaxon_44294


parents

Bacteria


synonyms

Actinobacillus pleuropneumoniae 5

Actinobacillus pleuropneumoniae serotype 5

Actinobacillus pleuropneumoniae serovar 7

http://purl.obolibrary.org/obo/NCBITaxon_209841


parents

Bacteria


synonyms

Actinobacillus pleuropneumoniae 7

Actinobacillus pleuropneumoniae serotype 7

actinomycin D

http://purl.obolibrary.org/obo/CHEBI_27666

An actinomycin that has formula C62H86N12O16.


parents

chemical compound


synonyms

[H][C@@]12CCCN1C(=O)[C@H](NC(=O)[C@@H](NC(=O)c1ccc(C)c3oc4c(C)c(=O)c(N)c(C(=O)N[C@H]5[C@@H](C)OC(=O)[C@H](C(C)C)N(C)C(=O)CN(C)C(=O)[C@]6([H])CCCN6C(=O)[C@H](NC5=O)C(C)C)c4nc13)[C@@H](C)OC(=O)[C@H](C(C)C)N(C)C(=O)CN(C)C2=O)C(C)C

2-amino-4,6-dimethyl-3-oxo-1-N,9-N-bis-[(18aS)-10c,14,17-trimethyl-5,8,12,15,18-pentaoxo-6c,13t-di(propan-2-yl)-18ar-hexadecahydro-1H-pyrrolo[2,1-i][1,4,7,10,13]oxatetraazacyclohexadecin-9c-yl]-3H-phenoxazine-1,9-dicarboxamide

2-amino-N,N'-bis(hexadecahydro-2,5,9-trimethyl-6,13-bis(1-methylethyl)-1,4,7,11,14-pentaoxo-1H-pyrrolo(2,1-i)(1,4,7,10,13)oxatetra-azacyclohexadecin-10-yl)-4,6-dimethyl-3-oxo-3H-phenoxazine-1,9-dicarboxamide

ActD

actinomycin C1

actinomycin IV

C62H86N12O16

Dactinomycin

InChI=1/C62H86N12O16/c1-27(2)42-59(84)73-23-17-19-36(73)57(82)69(13)25-38(75)71(15)48(29(5)6)61(86)88-33(11)44(55(80)65-42)67-53(78)35-22-21-31(9)51-46(35)64-47-40(41(63)50(77)32(10)52(47)90-51)54(79)68-45-34(12)89-62(87)49(30(7)8)72(16)39(76)26-70(14)58(83)37-20-18-24-74(37)60(85)43(28(3)4)66-56(45)81/h21-22,27-30,33-34,36-37,42-45,48-49H,17-20,23-26,63H2,1-16H3,(H,65,80)(H,66,81)(H,67,78)(H,68,79)/t33-,34-,36+,37+,42-,43-,44+,45+,48+,49+/m1/s1/f/h65-68H

InChIKey=RJURFGZVJUQBHK-HQANWYOLDQ

Action myoclonus - renal failure syndrome

http://www.orpha.net/ORDO/Orphanet_163696


parents

Primary glomerular disease

Epilepsy syndrome

activated CD4-negative, CD8-negative type I NK T cell

http://purl.obolibrary.org/obo/CL_0000928


parents

type I NK T cell

activated CD4-positive, alpha-beta T cell

http://purl.obolibrary.org/obo/CL_0000896


parents

CD4-positive, alpha-beta T cell

activated CD4-positive type I NK T cell

http://purl.obolibrary.org/obo/CL_0000925


parents

type I NK T cell

activated CD8-positive, alpha-beta T cell

http://purl.obolibrary.org/obo/CL_0000906


parents

CD8-positive, alpha-beta T cell

Activated PIK3-delta syndrome

http://www.orpha.net/ORDO/Orphanet_397596


parents

Combined T and B cell immunodeficiency


synonyms

APDS

p110delta-activating mutation causing senescent T-cells, , lymphadenopathy and immunodeficiency

PALSI

activated type II NK T cell

http://purl.obolibrary.org/obo/CL_0000931


parents

type II NK T cell

active gastritis

http://www.ebi.ac.uk/efo/EFO_0000217

A stomach disease that is an inflammation of the lining of the stomach.

Inflammation of the GASTRIC MUCOSA, a lesion observed in a number of unrelated disorders.

Inflammation of the stomach.


parents

digestive system disease


synonyms

acute gastric mucosal erosion (disorder)

acute gastritis

acute gastritis, with hemorrhage

acute gastritis, without mention of hemorrhage

acute gastritis (disorder)

acute gastritis with hemorrhage

acute gastritis without mention of hemorrhage

acute haemorrhagic gastritis

acute hemorrhagic gastritis (disorder)

acute hemorrhagic gastritis [dup] (disorder)

chronic Gastritis

chronic gastritis (disorder)

chronic gastritis NOS (disorder)

Erosive Gastritis

Erosive gastropathy (disorder)

Gastric catarrh

Gastritides

Gastritis

Gastritis, NOS

Gastritis (disorder)

Gastritis [Ambiguous]

GASTRITIS HEMORRHAGIC

Gastritis unspecified

Gastritis unspecified (disorder)

Hemorrhagic Gastritis

Idiopathic erosive/hemorrhagic gastritis (disorder)

Other specified gastritis

Other specified gastritis, with hemorrhage

Other specified gastritis, without mention of hemorrhage

Other specified gastritis (disorder)

Other specified gastritis NOS (disorder)

acute

http://purl.obolibrary.org/obo/HP_0011009

Sudden appearance of disease manifestations over a short period of time.


parents

clinical modifier

acute basophilic leukemia

http://www.ebi.ac.uk/efo/EFO_0003029

An acute myeloid leukemia in which the immature cells differentiate towards basophils. This is a rare leukemia. The observed cases have been associated with a poor prognosis. The term basophilic leukemia is used as a synonym for acute basophilic leukemia. Chronic basophilic leukemia is an inappropriate term vaguely connected to the term mast cell leukemia. (WHO, 2001)


parents

acute myeloid leukemia


synonyms

Basophilic Leukemia

Leukemia Basophilic

acute coronary syndrome

http://www.ebi.ac.uk/efo/EFO_0005672

A disorder characterized by signs and symptoms related to acute ischemia of the myocardium secondary to coronary artery disease. The clinical presentation covers a spectrum of heart diseases from unstable angina to myocardial infarction.


parents

heart disease

acute erythroleukemia

http://www.ebi.ac.uk/efo/EFO_0000218


parents

acute myeloid leukemia


synonyms

AC ERTH/ERLK WO ACH RMSN

ACT ERTH/ERYLK W/O RMSON

acute erythremia and erythroleukemia

Acute erythremia and erythroleukemia without mention of having achieved remission

Acute erythremia and erythroleukemia without mention of remission

acute erythroid leukemia

acute graft vs. host disease

http://www.ebi.ac.uk/efo/EFO_0004599

Graft-versus-host disease (GVHD) is a common complication following an allogeneic tissue transplant. It is commonly associated with stem cell or bone marrow transplant but the term also applies to other forms of tissue graft.


parents

immune system disease

Acute hepatic porphyria

http://www.orpha.net/ORDO/Orphanet_95157

Acute hepatic porphyrias represent a sub-group of porphyrias (see this term) characterized by the occurrence of neuro-visceral attacks with or without cutaneous manifestations. Acute hepatic porphyrias encompass four diseases: acute intermittent porphyria (the most common), variagate porphyria, hereditary coproporphyria, and hereditary deficit of delta-aminolevulinic acid dehydratase (extremely rare) (see these terms).


parents

Rare hereditary metabolic disease with peripheral neuropathy

Porphyria


children

Acute intermittent porphyria

Hereditary coproporphyria

Porphyria due to ALA dehydratase deficiency

Porphyria variegata

acute hypotension

http://www.ebi.ac.uk/efo/EFO_0002497


parents

hypotension

Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins

http://www.orpha.net/ORDO/Orphanet_217371

Acute infantile liver failure due to mtDNA-encoded proteins synthesis defect is a very rare mitochondrial respiratory chain deficiency described in fewer than 10 infants, primarily of middle Eastern descent, and characterized clinically by transient but life-threatening liver failure with elevated liver enzymes, jaundice, vomiting, coagulopathy, hyperbilirubinemia, and lactic acidemia.


parents

Rare metabolic liver disease

Mitochondrial disorder due to a defect in mitochondrial protein synthesis


synonyms

Acute infantile liver failure due to synthesis defect of mitochondrial DNA-encoded proteins

Acute infantile liver failure-multisystemic involvement syndrome

http://www.orpha.net/ORDO/Orphanet_370088


parents

Genetic parenchymatous liver disease

acute inflammatory response

http://purl.obolibrary.org/obo/GO_0002526

Inflammation which comprises a rapid, short-lived, relatively uniform response to acute injury or antigenic challenge and is characterized by accumulations of fluid, plasma proteins, and granulocytic leukocytes. An acute inflammatory response occurs within a matter of minutes or hours, and either resolves within a few days or becomes a chronic inflammatory response.


parents

inflammatory response


children

type II hypersensitivity

Acute intermittent porphyria

http://www.orpha.net/ORDO/Orphanet_79276


parents

Nuclear oculomotor paralysis

Acute hepatic porphyria

acute lung injury

http://www.ebi.ac.uk/efo/EFO_0004610

Acute lung injury (ALI) is a diffuse heterogeneous lung injury characterized by hypoxemia, non cardiogenic pulmonary edema, low lung compliance and widespread capillary leakage. ALI is caused by any stimulus of local or systemic inflammation, principally sepsis.


parents

lung disease


synonyms

ALI

acute lymphoblastic leukemia

http://www.ebi.ac.uk/efo/EFO_0000220

A leukemia/lymphoma found predominately in children and adolescents and characterized by a high number of lymphoblasts and solid tumor lesions. Frequent sites involve LYMPH NODES, skin, and bones. It most commonly presents as leukemia.

A neoplasm characterized by abnormalities of the lymphoid cell precursors leading to excessive lymphoblasts in the marrow and other organs. It is the most common cancer in children and accounts for the vast majority of all childhood leukemias.

Leukemia with an acute onset, characterized by the presence of lymphoblasts in the bone marrow and the peripheral blood. It includes the acute B lymphoblastic leukemia and acute T lymphoblastic leukemia.

Leukemia with an acute onset, characterized by the presence of lymphoblasts in the bone marrow and the peripheral blood. It includes the precursor B lymphoblastic leukemia and precursor T lymphoblastic leukemia.

When the disease process is confined to a mass lesion with no or minimal evidence of blood and less than 25% marrow involvement, the diagnosis is lymphoblastic lymphoma; with blood and greater than 25% marrow involvement, ALL is the appropriate term.


parents

neoplasm of immature B and T cells


children

B-cell acute lymphoblastic leukemia

T-cell acute lymphoblastic leukemia


synonyms

[M]Acute lymphoid leukaemia

[M]Acute lymphoid leukemia

[M]Acute lymphoid leukemia (morphologic abnormality)

AC LYM LEUK WO ACHV RMSN

ACT LYM LEUK W/O RMSION

Acute lymphatic leukaemia

Acute lymphatic leukaemia, L2 type

Acute lymphatic leukemia

Acute lymphatic leukemia, L2 type

Acute lymphoblastic leukaemia

Acute lymphoblastic leukaemia, L2 type

Acute lymphoblastic leukaemia, precursor-cell type

Acute lymphoblastic leukaemia-lymphoma

Acute lymphoblastic leukemia, L2 type

Acute lymphoblastic leukemia, precursor-cell type

Acute lymphoblastic leukemia-lymphoma

Acute Lymphocytic Leukaemia

Acute lymphocytic leukaemia, L2 type

Acute Lymphocytic Leukemia

Acute lymphocytic leukemia, L2 type

Acute Lymphocytic Leukemias

Acute Lymphogenous Leukemia

Acute lymphoid leukaemia

Acute lymphoid leukaemia, disease

Acute lymphoid leukaemia, L2 type

Acute lymphoid leukemia

Acute lymphoid leukemia, disease

Acute lymphoid leukemia, disease (disorder)

Acute lymphoid leukemia, L2 type

Acute lymphoid leukemia without mention of having achieved remission

Acute lymphoid leukemia without mention of remission

ALL

ALL, Childhood

ALL - Acute lymphoblastic leukaemia

ALL - Acute lymphoblastic leukemia

ALL - Acute Lymphocytic Leukemia

Childhood ALL

FAB L2

L1 Lymphocytic Leukemia

L2 Lymphocytic Leukemia

Leukemia, Acute Lymphoblastic

Leukemia, Acute Lymphocytic

Leukemia, Acute Lymphoid

Leukemia, L1 Lymphocytic

Leukemia, L2 Lymphocytic

Leukemia, Lymphoblastic

Leukemia, Lymphoblastic, Acute

Leukemia, Lymphoblastic, Acute, L1

Leukemia, Lymphoblastic, Acute, L2

Leukemia, Lymphoblastic, Acute, Philadelphia-Positive

Leukemia, Lymphocytic, Acute

Leukemia, Lymphocytic, Acute, L1

Leukemia, Lymphocytic, Acute, L2

Leukemia, Lymphoid, Acute

Leukemia, Pre B Cell

Leukemia, Pre-B-Cell

Leukemias, Pre-B-Cell

Lymphoblastic leukaemia, L2 type

Lymphoblastic Leukemia, Acute

Lymphoblastic Leukemia, Acute, Adult

Lymphoblastic Leukemia, Acute, Childhood

Lymphoblastic Leukemia, Acute, L1

Lymphoblastic Leukemia, Acute, L2

Lymphoblastic leukemia, L2 type

Lymphocytic Leukemia, Acute

Lymphocytic Leukemia, L1

Lymphocytic Leukemia, L2

Lymphoid Leukemia, Acute

Pre B ALL

Pre B-ALL

Pre-B ALL

Pre B Cell Leukemia

Pre-B-Cell Leukemia

Pre-B-Cell Leukemias

Precursor B Cell Lymphoblastic Leukemia

Precursor B-Cell Lymphoblastic Leukemia

Precursor B Cell Lymphoblastic Leukemia Lymphoma

Precursor B-Cell Lymphoblastic Leukemia-Lymphoma

Precursor B Cell Lymphoblastic Lymphoma

Precursor B-Cell Lymphoblastic Lymphoma

Precursor cell lymphoblastic leukaemia

Precursor cell lymphoblastic leukaemia, not phenotyped

Precursor cell lymphoblastic leukemia

Precursor cell lymphoblastic leukemia, no ICD-O subtype (morphologic abnormality)

Precursor cell lymphoblastic leukemia, not phenotyped

Precursor cell lymphoblastic leukemia (morphologic abnormality)

Precursor Cell Lymphoblastic Leukemia Lymphoma

Precursor Cell Lymphoblastic Leukemia-Lymphoma

Precursor Lymphoblastic Leukemia

acute megakaryoblastic leukaemia

http://www.ebi.ac.uk/efo/EFO_0003025


parents

acute myeloid leukemia


synonyms

pyomyositis

Tropical pyomyositis

Tropical pyomyositis (disorder)

Tropical pyomyositis [dup] (disorder)

acute monocytic leukemia

http://www.ebi.ac.uk/efo/EFO_0000221

An acute myeloid leukemia in which 80% or more of the leukemic cells are of monocytic lineage including monoblasts, promonocytes, and MONOCYTES.


parents

acute myeloid leukemia


synonyms

acute monoblastic leukemia

acute monoblastic leukemia (disorder)

acute Monoblastic Leukemia and acute Monocytic Leukemia

Acute Monoblastic Leukemias

acute monocytic leukaemia

acute monocytic leukemia, FAB M5 (disorder)

acute monocytic leukemia, morphology (morphologic abnormality)

Acute Monocytic Leukemias

acute monocytic leukemia without mention of remission

Leukemia, Acute Monoblastic

Leukemia, Acute Monocytic

Leukemia, Monoblastic, Acute

Leukemia, Monocytic, Acute

Leukemia, Myeloid, Acute, M5

Leukemia, Myeloid, Schilling Type

Leukemia, Myeloid, Schilling-Type

Leukemia, Schilling-Type Myeloid

LEUKEMIA MYELOID ACUTE M 05

Leukemias, Acute Monoblastic

Leukemias, Acute Monocytic

Monoblastic Leukemia, Acute

Monoblastic Leukemias, Acute

Monocytic leukemia, acute

Monocytic Leukemias, Acute

Myeloid Leukemia, Acute, M5

Myeloid Leukemia, Schilling Type

Myeloid Leukemia, Schilling-Type

MYELOID LEUKEMIA ACUTE M 05

Schilling-Type Myeloid Leukemia

acute myeloblastic leukemia with maturation

http://www.ebi.ac.uk/efo/EFO_0003028

An acute myeloid leukemia (AML) characterized by blasts with evidence of maturation to more mature neutrophils. Patients often present with anemia, neutropenia, and thrombocytopenia. AML with the t(8;21) is usually AML with maturation. This type of AML frequently responds to aggressive therapy. (WHO, 2001)


parents

acute myeloid leukemia


synonyms

Acute M2 Myeloid Leukemia

Acute Myelocytic Leukemia with Maturation

Acute Myelogenous Leukemia with Maturation

Acute Myeloid Leukemia (AML-M2)

Acute Myeloid Leukemia with Maturation

AML with Maturation

FAB M2

M2 Acute Granulocytic Leukemia

M2 Acute Myeloblastic Leukemia

M2 Acute Myeloblastic Leukemia with Maturation

M2 Acute Myelocytic Leukemia with Maturation

M2 Acute Myelogenous Leukemia

M2 Acute Myelogenous Leukemia with Maturation

M2 Acute Myeloid Leukemia

M2 Acute Myeloid Leukemia with Maturation

acute myeloblastic leukemia without maturation

http://www.ebi.ac.uk/efo/EFO_0003027

An acute myeloid leukemia (AML) characterized by blasts without evidence of maturation to more mature neutrophils. The patients present with anemia, neutropenia, and thrombocytopenia. This type of AML usually follows an aggressive clinical course. (WHO, 2001)


parents

acute myeloid leukemia


synonyms

Acute Granulocytic Leukemia without Maturation

Acute M1 Myeloid Leukemia

Acute Myelocytic Leukemia without Maturation

Acute Myelogenous Leukemia without Maturation

Acute Myeloid Leukemia without Maturation

Acute Myeloid Leukemia without Maturation (FAB M1)

AML without Maturation

FAB M1

M1 Acute Granulocytic Leukemia

M1 Acute Granulocytic Leukemia without Maturation

M1 Acute Myeloblastic Leukemia

M1 Acute Myeloblastic Leukemia without Maturation

M1 Acute Myelocytic Leukemia

M1 Acute Myelocytic Leukemia without Maturation

M1 Acute Myelogenous Leukemia

M1 Acute Myelogenous Leukemia without Maturation

M1 Acute Myeloid Leukemia

M1 Acute Myeloid Leukemia without Maturation

acute myeloid leukemia

http://www.ebi.ac.uk/efo/EFO_0000222

Clonal expansion of myeloid blasts in bone marrow, blood, and other tissue. Myeloid leukemias develop from changes in cells that normally produce NEUTROPHILS; BASOPHILS; EOSINOPHILS; and MONOCYTES.


parents

leukemia

myeloid neoplasm


children

acute basophilic leukemia

acute erythroleukemia

acute megakaryoblastic leukaemia

acute monocytic leukemia

acute myeloblastic leukemia with maturation

acute myeloblastic leukemia without maturation

acute myelomonocytic leukemia

acute promyelocytic leukemia

childhood acute myeloid leukemia

minimally differentiated acute myeloblastic leukemia


synonyms

Acute Myeloblastic Leukemia

acute myeloblastic leukemia (disorder)

Acute Myeloblastic Leukemias

Acute Myelocytic Leukemia

Acute Myelocytic Leukemias

Acute Myelogenous Leukemia

Acute Myelogenous Leukemias

acute myeloid leukaemia

acute myeloid leukaemia, disease

acute myeloid leukaemia - category

acute myeloid leukemia in remission

acute myeloid leukemia in remission (disorder)

Acute Myeloid Leukemias

Acute Myeloid Leukemia with Maturation

Acute Myeloid Leukemia without Maturation

acute myeloid leukemia without mention of remission

Acute Nonlymphoblastic Leukemia

Acute Nonlymphoblastic Leukemias

acute non-lymphocytic leukaemia

Acute Nonlymphocytic Leukemia

Acute Nonlymphocytic Leukemias

AML

AML - acute Myeloid Leukemia

ANLL

ANLL in Remission

Leukemia, Acute Myeloblastic

Leukemia, Acute Myelocytic

Leukemia, Acute Myelogenous

Leukemia, Acute Myeloid

Leukemia, Acute Nonlymphoblastic

Leukemia, Acute Nonlymphocytic

Leukemia, Myeloblastic, Acute

Leukemia, Myelocytic, Acute

Leukemia, Myelogenous, Acute

Leukemia, Myeloid, Acute

Leukemia, Myeloid, Acute, M1

Leukemia, Myeloid, Acute, M2

Leukemia, Nonlymphoblastic, Acute

Leukemia, Nonlymphocytic, Acute

Leukemias, Acute Myeloblastic

Leukemias, Acute Myelocytic

Leukemias, Acute Myelogenous

Leukemias, Acute Myeloid

Leukemias, Acute Nonlymphoblastic

Leukemias, Acute Nonlymphocytic

Myeloblastic Leukemia, Acute

Myeloblastic Leukemias, Acute

Myelocytic Leukemia, Acute

Myelocytic Leukemias, Acute

Myelogenous Leukemia, Acute

Myelogenous Leukemias, Acute

Myeloid Leukemia, Acute

Myeloid Leukemia, Acute, M1

Myeloid Leukemia, Acute, M2

Myeloid Leukemias, Acute

Nonlymphoblastic Leukemia, Acute

Nonlymphoblastic Leukemias, Acute

Nonlymphocytic Leukemia, Acute

Nonlymphocytic Leukemias, Acute

Acute myeloid leukemia with CEBPA somatic mutations

http://www.orpha.net/ORDO/Orphanet_319480


parents

Genetic tumor of hematopoietic and lymphoid tissues


synonyms

AML with CEBPA somatic mutations

acute myelomonocytic leukemia

http://www.ebi.ac.uk/efo/EFO_0000223

An acute leukemia characterized by the proliferation of both neutrophil and monocyte precursors. Patients typically present with anemia, thrombocytopenia, fever and fatigue. This type of leukemia frequently responds to aggressive therapy. (WHO, 2001) -- 2003


parents

acute myeloid leukemia


synonyms

Acute M4 Myeloid Leukemia

Acute Myelomonocytic Leukemia (FAB Type M4)

AMML

Acute neonatal citrullinemia type I

http://www.orpha.net/ORDO/Orphanet_247546

Acute neonatal citrullinemia type 1 is a severe form of citrullinemia type 1 (see this term) characterized clinically by hyperammonemia, progressive lethargy, poor feeding and vomiting, seizures and possible loss of consciousness, within one to a few days of birth, with variable signs of increased intracranial pressure. The condition can lead to significant neurologic deficits.


parents

Citrullinemia type I


synonyms

Acute neonatal citrullinemia type 1

Citrullinémie type 1 néonatal aigu

Classic citrullinemia type 1

Classic citrullinemia type I

acute promyelocytic leukemia

http://www.ebi.ac.uk/efo/EFO_0000224

An acute myeloid leukemia (AML) in which abnormal promyelocytes predominate. It is characterized by the t(15;17)(q22;q12) translocation. There are two variants: the typical and micro granular (hypo granular) variant. This AML is particularly sensitive to treatment with all trans-retinoic acid and has a favorable prognosis. (WHO, 2001) -- 2003

An acute myeloid leukemia (AML) in which abnormal promyelocytes predominate. It is characterized by the t(15;17)(q22;q12) translocation. There are two variants: the typical and microgranular variant. This AML is particularly sensitive to treatment with all trans-retinoic acid and has a favorable prognosis. (WHO, 2001)


parents

acute myeloid leukemia


synonyms

Acute Promyelocytic Leukemia with t(15;17)(q22;q12); PML/RARA

Acute Promyelocytic Leukemia with t(15;17)(q22;q12); PML-RARA

AML with t(15;17)(q22;q12)

APL

APML

APML - Acute promyelocytic leukemia

FAB M3

Promyelocytic Leukemia

acute quadriplegic myopathy

http://www.ebi.ac.uk/efo/EFO_0000225


parents

musculo-skeletal system cell

myopathy

acute stress reaction

http://www.ebi.ac.uk/efo/EFO_0005223


parents

mental or behavioural disorder


synonyms

mixed disorder as reaction to stress

acyclovir

http://purl.obolibrary.org/obo/CHEBI_2453

A 2-aminopurine that has formula C8H11N5O3.


parents

drug


synonyms

2-amino-9-[(2-hydroxyethoxy)methyl]-1,9-dihydro-6H-purin-6-one

aciclovir

aciclovirum

C8H11N5O3

InChI=1/C8H11N5O3/c9-8-11-6-5(7(15)12-8)10-3-13(6)4-16-2-1-14/h3,14H,1-2,4H2,(H3,9,11,12,15)/f/h12H,9H2

InChIKey=MKUXAQIIEYXACX-TVNKGWMHCG

Nc1nc2n(COCCO)cnc2c(=O)[nH]1

Zovir

acylcarnitine measurement

http://www.ebi.ac.uk/efo/EFO_0005059

The quantification of some acylcarnitine, typically obtained from the blood of an individual with the intention of using the measurement in some diagnostic process.


parents

measurement

Acyl-CoA dehydrogenase 9 deficiency

http://www.orpha.net/ORDO/Orphanet_99901

Acyl-CoA dehydrogenase 9 (ACAD9) deficiency is a rare disorder leading to a deficiency of complex I of the respiratory chain and is characterized by neurological dysfunction, hepatic failure and cardiomyopathy.


parents

Fatty acid oxidation and ketogenesis disorder with hypertrophic cardiomyopathy

Fatty acid oxidation and ketogenesis disorder with dilated cardiomyopathy

Exercise intolerance with lactic acidosis


synonyms

ACAD9 deficiency

Acyl-CoA dehydrogenase deficiency

http://www.orpha.net/ORDO/Orphanet_309120


parents

Disorder of mitochondrial fatty acid oxidation


children

Medium chain acyl-CoA dehydrogenase deficiency

Multiple acyl-CoA dehydrogenase deficiency

Short chain acyl-CoA dehydrogenase deficiency

Transient neonatal multiple acyl-CoA dehydrogenase deficiency

Very long chain acyl-CoA dehydrogenase deficiency

Acyrthosiphon pisum

http://purl.obolibrary.org/obo/NCBITaxon_7029


parents

Eukaryota


synonyms

Acyrhosiphum pisum

Acyrthosiphum pisum

pea aphid

Adactyly of foot, bilateral

http://www.orpha.net/ORDO/Orphanet_295118


parents

Acheiropodia


synonyms

Toes absent, bilateral

Adactyly of foot, unilateral

http://www.orpha.net/ORDO/Orphanet_295116


parents

Acheiropodia


synonyms

Toes absent, unilateral

Adactyly of hand

http://www.orpha.net/ORDO/Orphanet_294931


parents

Terminal limb defects


children

Congenital absence/hypoplasia of fingers excluding thumb

Congenital absence/hypoplasia of thumb


synonyms

Fingers absent

Adamantinoma

http://www.orpha.net/ORDO/Orphanet_55881

Adamantinoma (AD) is a primary low-grade malignant bone tumor that occurs in more than 80% of cases on the anterior surface of the tibia (tibial dyaphysis). Most ADs are symptomatic or present with pain, swelling, bowing deformity or pathological fracture. Metastases especially in the lungs may be observed.


parents

Genetic bone tumor

Adams-Oliver syndrome

http://www.orpha.net/ORDO/Orphanet_974


parents

Genetic mixed dermis disorder

Genetic syndrome with limb reduction defects


synonyms

AOS

Congenital scalp defects with distal limb anomalies

Congenital scalp defects with distal limb reduction anomalies

Limb, scalp and skull defects

adaxial cells

http://www.ebi.ac.uk/efo/EFO_0000226


parents

animal developmental tissue


synonyms

adaxial cell

addictive behaviour

http://www.ebi.ac.uk/efo/EFO_0004347

The observable, measurable, and often pathological activity of an organism that portrays its inability to overcome a habit resulting in an insatiable craving for a substance or for performing certain acts. The addictive behavior includes the emotional and physical overdependence on the object of habit in increasing amount or frequency.


parents

behavior


synonyms

addictive behavior

behavior, addictive

Adducted thumbs - arthrogryposis, Christian type

http://www.orpha.net/ORDO/Orphanet_2952

Adducted thumbs-arthrogryposis, Christian type is a type of arthrogryposis characterized by congenital cleft palate, microcephaly, craniostenosis and arthrogryposis (limitation of extension of elbows, flexed adducted thumbs, camptodactyly and clubfeet). Additional features include facial dysmorphism ("myopathic" stiff face, antimongoloid slanting, external ophthalmoplegia, telecanthus, low-set large malrotated ears, open mouth, mierogenia and high arched palate). Velopharyngeal insufficiency with difficulties in swallowing, increased secretion of the nose and throat, prominent occiput, generalized muscular hypotonia with mild cyanosis and no spontaneous movements, seizures, torticollis, areflexia, intellectual disability, hypertrichosis of the lower extremities, and scleredema (in the first days of life) are also observed. The disease often leads to early death. Transmission is autosomal recessive. No new cases of adducted thumbs-arthrogryposis, Christian type have been described since 1983.


parents

Arthrogryposis multiplex congenita

Syndrome or malformation associated with head and neck malformations

adductor mandibulae

http://purl.obolibrary.org/obo/UBERON_0011683

An adductor muscle that acts on the jaw. In some species, this is subdivided into segments based on attachment.


parents

muscle of head

animal developmental tissue


synonyms

adductor mandibulae complex

dorsal adductor mandibulae

levator mandibulae

m. adductor mandibulae

Adenine phosphoribosyltransferase deficiency

http://www.orpha.net/ORDO/Orphanet_976

Adenine phosphoribosyltransferase (APRT) deficiency is a rare autosomal recessive (AR) disorder characterized by the formation and hyperexcretion of 2,8-dihydroxyadenine (2,8-DHA) in urine, causing urolithiasis and crystalline nephropathy.


parents

Disorder of purine metabolism

Nephropathy secondary to a storage or other metabolic disease


synonyms

2,8-dihydroxyadenine urolithiasis

APRT deficiency

adenocarcinoma

http://www.ebi.ac.uk/efo/EFO_0000228

A malignant epithelial tumor with a glandular organization.

A type of carcinoma derived from glandular tissue or in which tumor cells form recognizable glandular structures.


parents

carcinoma


children

breast adenocarcinoma

cervical adenocarcinoma

clear cell adenocarcinoma

colorectal adenocarcinoma

diffuse gastric adenocarcinoma

ductal adenocarcinoma

endometrium adenocarcinoma

esophageal adenocarcinoma

gastric adenocarcinoma

gastric intestinal type adenocarcinoma

non-small cell lung adenocarcinoma

pancreatic ductal adenocarcinoma

papillary cystadenocarcinoma

prostate adenocarcinoma

rectal adenocarcinoma

renal cell adenocarcinoma

serous adenocarsinoma


synonyms

Adenocarcinoma, Basal Cell

Adenocarcinoma, Granular Cell

Adenocarcinoma, Oxyphilic

Adenocarcinoma, Tubular

Adenocarcinomas

Adenocarcinomas, Basal Cell

Adenocarcinomas, Granular Cell

Adenocarcinomas, Oxyphilic

Adenocarcinomas, Tubular

Adenoma, Malignant

Adenomas, Malignant

Basal Cell Adenocarcinoma

Basal Cell Adenocarcinomas

Carcinoma, Cribriform

Carcinoma, Granular Cell

Carcinoma, Tubular

Carcinomas, Cribriform

Carcinomas, Granular Cell

Carcinomas, Tubular

Cribriform Carcinoma

Cribriform Carcinomas

Granular Cell Adenocarcinoma

Granular Cell Adenocarcinomas

Granular Cell Carcinoma

Granular Cell Carcinomas

Malignant Adenoma

Malignant Adenomas

Oxyphilic Adenocarcinoma

Oxyphilic Adenocarcinomas

Tubular Adenocarcinoma

Tubular Adenocarcinomas

Tubular Carcinoma

Tubular Carcinomas

adenohypophyseal placode

http://purl.obolibrary.org/obo/UBERON_0009122

The adenohypophyseal placode forms the anterior lobe of the pituitary gland and gives rise to the endocrine secretory cells of the pituitary


parents

primordium


synonyms

pituitary placode

adenohypophysis

http://purl.obolibrary.org/obo/UBERON_0002196

The glandular, anterior lobe of the pituitary gland. The anterior pituitary regulates several physiological processes including stress, growth, and reproduction[WP]. The anterior lobe of the hypophysis (pituitary gland). This lobe contains cells that produce prolactin, growth hormone, thyroid-stimulating hormone, follicle-stimulating hormone and proopiomelanocortin. In contrast to mammalian vertebrates, the adenohypophysis remains in a subepithelial position and there exists no equivalent of Rathke's pouch in zebrafish[ZFA].


parents

endocrine system component


synonyms

anterior hypophysis

anterior lobe (hypophysis)

anterior lobe of hypophysis

anterior lobe of pituitary

anterior lobe of pituitary gland

anterior pituitary

anterior pituitary gland

lobus anterior (glandula pituitaria)

lobus anterior hypophysis

pituitary gland, anterior lobe

adenoid cystic carcinoma

http://www.ebi.ac.uk/efo/EFO_0000231

A malignant tumor arising from the epithelial cells. Microscopically, the neoplastic epithelial cells form cylindrical spatial configurations (cribriform or classic type of adenoid cystic carcinoma), cordlike structures (tubular type of adenoid cystic carcinoma), or solid structures (basaloid variant of adenoid cystic carcinoma). Adenoid cystic carcinomas mostly occur in the salivary glands. Other primary sites of involvement include the lacrimal gland, the larynx, and the lungs. Adenoid cystic carcinomas spread along nerve sheaths, resulting in severe pain, and they tend to recur. Lymph node metastases are unusual; hematogenous tumor spread is characteristic.

Carcinoma characterized by bands or cylinders of hyalinized or mucinous stroma separating or surrounded by nests or cords of small epithelial cells. When the cylinders occur within masses of epithelial cells, they give the tissue a perforated, sievelike, or cribriform appearance. Such tumors occur in the mammary glands, the mucous glands of the upper and lower respiratory tract, and the salivary glands. They are malignant but slow-growing, and tend to spread locally via the nerves. (Dorland, 27th ed)


parents

carcinoma


synonyms

Adenocarcinoma, cylindroid

Adenocystic Carcinoma

Adenocystic Carcinomas

adenoid cystic cancer

Adenoid cystic carcinoma (morphologic abnormality)

Adenoid Cystic Carcinomas

Bronchial adenoma, cylindroid

Carcinoma, Adenocystic

Carcinoma, Adenoid Cystic

Carcinomas, Adenocystic

Carcinomas, Adenoid Cystic

Cylindroid Adenocarcinoma

Cylindroma

Cylindroma, NOS (except Cylindroma of skin, M-82000)

Cylindroma (except Cylindroma of skin, M-82000)

Cylindroma (morphologic abnormality)

Cylindroma NOS

Cylindromas

Cystic Carcinoma, Adenoid

Cystic Carcinomas, Adenoid

adenoma

http://www.ebi.ac.uk/efo/EFO_0000232

A neoplasm arising from the epithelium. It may be encapsulated or non-encapsulated but non-invasive. The neoplastic epithelial cells may or may not display cellular atypia or dysplasia. In the gastrointestinal tract, when dysplasia becomes severe it is sometimes called carcinoma in situ. Representative examples are pituitary gland adenoma, follicular adenoma of the thyroid gland, and adenomas (or adenomatous polyps) of the gastrointestinal tract.

A neoplasm arising from the epithelium. It may be encapsulated or non-encapsulated but non-invasive. The neoplastic epithelial cells may or may not display cellular atypia or dysplasia. In the gastrointestinal tract, when dysplasia becomes severe it is sometimes called carcinoma in situ. Representative examples are pituitary gland adenoma, follicular adenoma of the thyroid gland, and adenomas (or adenomatous polyps) of the gastrointestinal tract.


parents

benign neoplasm


children

adrenocortical adenoma

follicular thyroid adenoma

hepatocellular adenoma

ovarian adenoma benign

serous cystadenoma

simple cystadenoma


synonyms

adenomas

Adenosine monophosphate deaminase deficiency

http://www.orpha.net/ORDO/Orphanet_45


parents

Mitochondrial myopathy

Disorder of purine metabolism


synonyms

AMP deaminase deficiency

Myoadenylate deaminase deficiency

adenosquamous lung carcinoma

http://www.ebi.ac.uk/efo/EFO_0000233

An aggressive carcinoma with a poor prognosis characterized by a presence of both malignant squamous cells and glandular cells.


parents

lung carcinoma


synonyms

adenosquamous cell lung carcinoma

Adenylosuccinate lyase deficiency

http://www.orpha.net/ORDO/Orphanet_46

Adenylosuccinate lyase deficiency, also called adenylosuccinase deficiency, is an autosomal recessive inherited disorder of purine metabolism. Clinical signs are non-specific and include psychomotor retardation, epileptic seizures, and behavioral disorders similar to autism. All of these may be associated with growth retardation and amyotrophy.


parents

Rare disease with autism

Syndromic neurometabolic disease with non-X-linked intellectual disability

Disorder of purine metabolism


synonyms

Adenylosuccinase deficiency

ADSL deficiency

adhesion factor

http://www.ebi.ac.uk/efo/EFO_0004521

A biological macromolecule that has an adhesion disposition.


parents

biological macromolecule


synonyms

adhesion molecule

adhesion molecule measurement

http://www.ebi.ac.uk/efo/EFO_0004522

A soluble adhesion molecule measurement is a quantification of the soluble compoment (as opposed to membrane bound) a molecule known to participate in the process of adhesion, levels of which may be implicated in cardiovascular adverse events.


parents

measurement


children

e-selectin measurement

ICAM-1 measurement

soluble P-selectin measurement


synonyms

soluble adhesion molecule measurement

Adie syndrome

http://www.ebi.ac.uk/efo/EFO_0004126


parents

sensory system disease


synonyms

Adie Syndrome

tonic pupil

adipocyte of breast

http://purl.obolibrary.org/obo/CL_0002617

A fat cell that is part of the breast.


parents

fat cell


synonyms

breast adipocyte

fat cell of breast

adiponectin measurement

http://www.ebi.ac.uk/efo/EFO_0004502

Adiponectin measurement is a measurement of the circulating hormone adiponectin in serum. Adiponectin regulated modulates glucose regulation and fatty acid catabolism. Adiponectin levels have been shown to beinversely correlated with with the risk of type 2 diabetes, coronary artery disease, stroke, and several metabolic traits.


parents

hormone measurement


synonyms

adiponectin levels

adipose dendritic cell

http://purl.obolibrary.org/obo/CL_0002462


parents

conventional dendritic cell


children

SIRPa-negative adipose dendritic cell

SIRPa-positive adipose dendritic cell

adipose macrophage

http://purl.obolibrary.org/obo/CL_0002477


parents

tissue-resident macrophage


children

F4/80-negative adipose macrophage

F4/80-positive adipose macrophage

adipose tissue

http://purl.obolibrary.org/obo/UBERON_0001013

Connective tissue composed of adipocytes.


parents

animal component


children

adipose tissue of abdominal region

brown fat

fat body sensu amphibia

fat body sensu invertebrata

pericardial fat

white fat


synonyms

adipose

bodyfat

fat

fat tissue

fatty depot

fatty tissue

adipose tissue derived mesenchymal stem cell

http://www.ebi.ac.uk/efo/EFO_0005023

A adult mesenchymal stem cell derived from adipose tisssue


parents

mesenchymal stem cell


synonyms

hMSC-AT

human mesenchymal stem cell from adipose tissue

adipose tissue measurement

http://www.ebi.ac.uk/efo/EFO_0004764

Is a quantification of some aspect of adipose tissue, for example used in the diagnosis and research into obesity.


parents

anthropometry


children

renal sinus adipose tissue measurement

subcutaneous adipose tissue

visceral:subcutaneous adipose tissue ratio

visceral adipose tissue measurement

adipose tissue of abdominal region

http://purl.obolibrary.org/obo/UBERON_0007808

Adipose tissue that is located in the abdominal region. This includes any subcutaneous fat, visceral fat or encapsulated adipose tissue depots.


parents

adipose tissue


synonyms

abdominal adipose tissue

abdominal fat

intra-abdominal fat

ADNP-related multiple congenital anomalies-intellectual disability-autism spectrum disorder

http://www.orpha.net/ORDO/Orphanet_404448


parents

Multiple congenital anomalies/dysmorphic syndrome-intellectual disability

Rare genetic intellectual disability with developmental anomaly

adolescent idiopathic scoliosis

http://www.ebi.ac.uk/efo/EFO_0005423


parents

scoliosis

Adolescent-onset epilepsy syndrome

http://www.orpha.net/ORDO/Orphanet_98260


parents

Epilepsy syndrome


children

Benign adult familial myoclonic epilepsy

Familial partial epilepsy

Progressive myoclonic epilepsy

adrenal cortex

http://purl.obolibrary.org/obo/UBERON_0001235

Situated along the perimeter of the adrenal gland, the adrenal cortex mediates the stress response through the production of mineralocorticoids and glucocorticoids, including aldosterone and cortisol respectively. It is also a secondary site of androgen synthesis. [WP,unvetted].


parents

endocrine system component


synonyms

adrenal gland cortex

cortex (glandula suprarenalis)

cortex glandulae suprarenalis

cortex of adrenal gland

cortex of suprarenal gland

suprarenal

suprarenal cortex

adrenal gland

http://purl.obolibrary.org/obo/CL_0000336

A cell found within the adrenal medulla that secrete biogenic amine hormones upon stimulation.

A flattened, roughly triangular body resting upon the upper end of each kidney; it is one of the ductless glands furnishing internal secretions (epinephrine and norepinephrine from the medulla and steroid hormones from the cortex).

Either of a pair of complex endocrine organs near the anterior medial border of the kidney consisting of a mesodermal cortex that produces glucocorticoid, mineralocorticoid, and androgenic hormones and an ectodermal medulla that produces epinephrine and norepinephrine.


parents

gland


synonyms

adrenal

adrenal capsule

Adrenal Glands

adrenal medulla cell

adrenal medulla chromaffin cell

Adrenals

atrabiliary capsule

chromafin cell

epinephros

glandula suprarenalis

suprarenal capsule

Suprarenal gland

adrenal gland disease

http://www.ebi.ac.uk/efo/EFO_0005539

An endocrine system disease that is located_in the adrenal gland.


parents

endocrine system disease

adrenal gland neoplasm

http://www.ebi.ac.uk/efo/EFO_0003850

Tumors or cancer of the ADRENAL GLANDS.


parents

neoplasm


children

adrenal gland pheochromocytoma


synonyms

Adrenal Cancer

Adrenal Cancers

Adrenal Gland Cancer

Adrenal Gland Cancers

ADRENAL GLAND NEOPL

Adrenal Gland Neoplasms

Adrenal Neoplasm

Adrenal Neoplasms

Cancer, Adrenal

Cancer, Adrenal Gland

Cancer of the Adrenal Gland

Cancers, Adrenal

Cancers, Adrenal Gland

NEOPL ADRENAL GLAND

Neoplasm, Adrenal

Neoplasm, Adrenal Gland

Neoplasms, Adrenal

Neoplasms, Adrenal Gland

adrenal gland pheochromocytoma

http://www.ebi.ac.uk/efo/EFO_0000239

A benign or malignant neuroendocrine neoplasm of the sympathetic nervous system that secretes catecholamines. It arises from the chromaffin cells of the adrenal medulla. Clinical presentation includes headaches, palpitations, chest and abdominal pain, hypertension, fever, and tremor. Microscopically, a characteristic nesting (zellballen) growth pattern is usually seen. Other growth patterns including trabecular pattern may also be present.


parents

adrenal gland neoplasm


synonyms

Adrenal Gland Chromaffinoma

Adrenal Gland Chromaffin Paraganglioma

Adrenal Gland Paraganglioma

Adrenal Medullary Paraganglioma

Adrenal Medullary Pheochromocytoma

Adrenal Pheochromocytoma

Chromaffin Paraganglioma of the Adrenal Gland

Intraadrenal Paraganglioma

PCC

Phaeochromocytoma

Pheochromocytoma

adrenaline

http://purl.obolibrary.org/obo/CHEBI_33568

A catecholamine that has formula C9H13NO3.


parents

hormone


synonyms

(+-)-epinephrine

2-(methylamino)-1-(3,4-dihydroxyphenyl)ethanol

4-[1-hydroxy-2-(methylamino)ethyl]benzene-1,2-diol

C9H13NO3

CNCC(O)c1ccc(O)c(O)c1

dl-adrenaline

epinephrine racemic

InChI=1/C9H13NO3/c1-10-5-9(13)6-2-3-7(11)8(12)4-6/h2-4,9-13H,5H2,1H3

InChIKey=UCTWMZQNUQWSLP-UHFFFAOYAC

racepinefrina

racepinefrine

racepinefrinum

adrenal medulla

http://purl.obolibrary.org/obo/UBERON_0001236

The adrenal medulla is part of the adrenal gland. It is located at the center of the gland, being surrounded by the adrenal cortex. It is the innermost part of the adrenal gland, consisting of cells that secrete epinephrine, norepinephrine, and a small amount of dopamine in response to stimulation by sympathetic preganglionic neurons. Composed mainly of hormone-producing chromaffin cells, the adrenal medulla is the principal site of the conversion of the amino acid tyrosine into the catecholamines adrenaline (epinephrine), noradrenaline (norepinephrine), and dopamine[WP,unvetted].


parents

endocrine system component


synonyms

adrenal central medulla

adrenal gland medulla

chromaffin cells

medulla (glandula suprarenalis)

medulla glandulae suprarenalis

medulla of adrenal gland

medulla of glandula suprarenalis

medulla of suprarenal gland

suprarenal medulla

adrenergic antagonist

http://purl.obolibrary.org/obo/CHEBI_37887

An agent that binds to but does not activate adrenergic receptors thereby blocking the actions of endogenous or exogenous adrenergic agonists.


parents

drug role


synonyms

adrenergic antagonists

adrenergic blockaders

adrenergic blocker

adrenergic blockers

adrenergic receptor blockaders

adrenoceptor antagonists

adrenergic uptake inhibitor

http://purl.obolibrary.org/obo/CHEBI_35640

Adrenergic uptake inhibitors are drugs that block the transport of adrenergic transmitters into axon terminals or into storage vesicles within terminals. The tricyclic antidepressants and amphetamines are among the therapeutically important drugs that may act via inhibition of adrenergic transport. Many of these drugs also block transport of serotonin.


parents

drug role


synonyms

adrenergic uptake inhibitors

adrenocortical adenoma

http://www.ebi.ac.uk/efo/EFO_0003104


parents

adenoma

endocrine neoplasm


synonyms

adrenal cortical adenoma

Adrenal cortical adenoma, no ICD-O subtype (morphologic abnormality)

Adrenal cortical adenoma (disorder)

Adrenal cortical adenoma - morphology

Adrenal cortical adenoma NOS (morphologic abnormality)

adrenocortical carcinoma

http://www.ebi.ac.uk/efo/EFO_0003093

An adrenal carcinoma that forms in the outer layer of tissue of the adrenal gland.


parents

carcinoma

endocrine neoplasm


synonyms

Adrenal cortical carcinoma (morphologic abnormality)

carcinoma of the Adrenal cortex

adrenocorticotropic hormone

http://purl.obolibrary.org/obo/CHEBI_3892

A polypeptide hormone produced and secreted by the pituitary gland comprising 39 amino acid residues coupled in a linear sequence. The N-terminal 24-amino acid segment is identical in all species and contains the adrenocorticotrophic activity. Corticotropin stimulates the cortex of the adrenal gland and boosts the synthesis of corticosteroids, mainly glucocorticoids but also sex steroids (androgens). It is used in the treatment of certain neurological disorders such as infantile spasms and multiple sclerosis, and diagnostically to investigate adrenocortical insufficiency.


parents

hormone


synonyms

ACTH

adrenocorticotropin

C207H308N56O58S

corticotrofina

corticotrophine

corticotrophinum

Corticotropin

cortrophin

CSCC[C@H](NC(=O)[C@H](CO)NC(=O)[C@H](Cc1ccc(O)cc1)NC(=O)[C@@H](N)CO)C(=O)N[C@@H](CCC(O)=O)C(=O)N[C@@H](Cc1cnc[nH]1)C(=O)N[C@@H](Cc1ccccc1)C(=O)N[C@@H](CCCNC(N)=N)C(=O)N[C@@H](Cc1c[nH]c2ccccc12)C(=O)NCC(=O)N[C@@H](CCCCN)C(=O)N1CCC[C@H]1C(=O)N[C@@H](C(C)C)C(=O)NCC(=O)N[C@@H](CCCCN)C(=O)N[C@@H](CCCCN)C(=O)N[C@@H](CCCNC(N)=N)C(=O)N[C@@H](CCCNC(N)=N)C(=O)N1CCC[C@H]1C(=O)N[C@@H](C(C)C)C(=O)N[C@@H](CCCCN)C(=O)N[C@@H](C(C)C)C(=O)N[C@@H](Cc1ccc(O)cc1)C(=O)N1CCC[C@H]1C(=O)N[C@@H](CC(N)=O)C(=O)NCC(=O)N[C@@H](C)C(=O)N[C@@H](CCC(O)=O)C(=O)N[C@@H](CC(O)=O)C(=O)N[C@@H](CCC(O)=O)C(=O)N[C@@H](CO)C(=O)N[C@@H](C)C(=O)N[C@@H](CCC(O)=O)C(=O)N[C@@H](C)C(=O)N[C@@H](Cc1ccccc1)C(=O)N1CCC[C@H]1C(=O)N[C@@H](CC(C)C)C(=O)N[C@@H](CCC(O)=O)C(=O)N[C@@H](Cc1ccccc1)C(O)=O

InChI=1/C207H308N56O58S/c1-108(2)89-140(186(302)240-135(69-74-163(279)280)182(298)254-149(204(320)321)94-117-43-20-15-21-44-117)250-193(309)152-54-35-86-262(152)202(318)147(92-116-41-18-14-19-42-116)252-171(287)114(11)230-175(291)132(66-71-160(273)274)234-170(286)113(10)231-191(307)150(105-265)255-183(299)136(70-75-164(281)282)241-190(306)146(98-165(283)284)249-180(296)133(67-72-161(275)276)235-169(285)112(9)229-157(270)101-225-174(290)145(97-156(213)269)251-194(310)153-55-36-87-263(153)203(319)148(93-119-60-64-123(268)65-61-119)253-199(315)167(110(5)6)257-185(301)129(49-26-30-79-210)243-198(314)168(111(7)8)259-196(312)155-57-38-85-261(155)201(317)139(53-34-83-223-207(218)219)244-178(294)130(51-32-81-221-205(214)215)237-177(293)128(48-25-29-78-209)236-176(292)127(47-24-28-77-208)232-158(271)103-227-197(313)166(109(3)4)258-195(311)154-56-37-84-260(154)200(316)138(50-27-31-80-211)233-159(272)102-226-173(289)143(95-120-99-224-126-46-23-22-45-124(120)126)247-179(295)131(52-33-82-222-206(216)217)238-187(303)142(90-115-39-16-13-17-40-115)246-189(305)144(96-121-100-220-107-228-121)248-181(297)134(68-73-162(277)278)239-184(300)137(76-88-322-12)242-192(308)151(106-266)256-188(304)141(245-172(288)125(212)104-264)91-118-58-62-122(267)63-59-118/h13-23,39-46,58-65,99-100,107-114,125,127-155,166-168,224,264-268H,24-38,47-57,66-98,101-106,208-212H2,1-12H3,(H2,213,269)(H,220,228)(H,225,290)(H,226,289)(H,227,313)(H,229,270)(H,230,291)(H,231,307)(H,232,271)(H,233,272)(H,234,286)(H,235,285)(H,236,292)(H,237,293)(H,238,303)(H,239,300)(H,240,302)(H,241,306)(H,242,308)(H,243,314)(H,244,294)(H,245,288)(H,246,305)(H,247,295)(H,248,297)(H,249,296)(H,250,309)(H,251,310)(H,252,287)(H,253,315)(H,254,298)(H,255,299)(H,256,304)(H,257,301)(H,258,311)(H,259,312)(H,273,274)(H,275,276)(H,277,278)(H,279,280)(H,281,282)(H,283,284)(H,320,321)(H4,214,215,221)(H4,216,217,222)(H4,218,219,223)/t112-,113-,114-,125-,127-,128-,129-,130-,131-,132-,133-,134-,135-,136-,137-,138-,139-,140-,141-,142-,143-,144-,145-,146-,147-,148-,149-,150-,151-,152-,153-,154-,155-,166-,167-,168-/m0/s1/f/h214,216,218,221-223,225-259,273,275,277,279,281,283,320H,213,215,217,219H2

InChIKey=IDLFZVILOHSSID-KPRWYZAZDY

L-seryl-L-tyrosyl-L-seryl-L-methionyl-L-alpha-glutamyl-L-histidyl-L-phenylalanyl-L-arginyl-L-tryptophylglycyl-L-lysyl-L-prolyl-L-valylglycyl-L-lysyl-L-lysyl-L-arginyl-L-arginyl-L-prolyl-L-valyl-L-lysyl-L-valyl-L-tyrosyl-L-prolyl-L-alpha-aspartylglycyl-L-alanyl-L-alpha-glutamyl-L-alpha-aspartyl-L-alpha-glutamyl-L-seryl-L-alanyl-L-alpha-glutamyl-L-alanyl-L-phenylalanyl-L-prolyl-L-leucyl-L-alpha-glutamyl-L-phenylalanine

SYSMEHFRWGKPVGKKRRPVKVYPDGAEDQLAEAFPLEF

Adrenogenital syndrome

http://www.orpha.net/ORDO/Orphanet_181412


parents

Rare genetic adrenal disease


children

Congenital adrenal hyperplasia

Glucocorticoid resistance

Hyperandrogenism due to cortisone reductase deficiency

Adrenomyeloneuropathy

http://www.orpha.net/ORDO/Orphanet_139399

Adrenomyeloneuropathy (AMN) is an adult form of the peroxisomal disease X-linked adrenoleukodystrophy (X-ALD, see this term), characterized by spastic paraparesia and often associated with peripheral adrenal insufficiency in males.


parents

Rare hereditary metabolic disease with peripheral neuropathy

X-linked adrenoleukodystrophy

Adrenomyodystrophy

http://www.orpha.net/ORDO/Orphanet_977


parents

Genetic chronic primary adrenal insufficiency

adult

http://www.ebi.ac.uk/efo/EFO_0001272

A maturity quality inhering in an individual by virtue of the individual having attained sexual maturity and full growth


parents

developmental stage


children

newly molted young adult hermaphrodite

postmenopausal


synonyms

adult stage

adult eye primordium

http://www.ebi.ac.uk/efo/EFO_0000240

.


parents

animal developmental tissue


synonyms

adult eye primordium early

Adult familial nephronophthisis - spastic quadriparesia

http://www.orpha.net/ORDO/Orphanet_2666


parents

Familial cystic renal disease

adult foregut precursor

http://www.ebi.ac.uk/efo/EFO_0000241


parents

animal developmental tissue

adult hindgut precursor

http://www.ebi.ac.uk/efo/EFO_0000242


parents

animal developmental tissue

Adult hypophosphatasia

http://www.orpha.net/ORDO/Orphanet_247676


parents

Hypophosphatasia


synonyms

Adult phosphoethanolaminuria

Adult Rathburn disease

Adult Krabbe disease

http://www.orpha.net/ORDO/Orphanet_206448


parents

Krabbe disease

adult midgut precursor

http://www.ebi.ac.uk/efo/EFO_0000244


parents

animal developmental tissue


synonyms

AMP

spindle cells

adult muscle precursor primordium

http://www.ebi.ac.uk/efo/EFO_0000245


parents

animal developmental tissue


synonyms

adult muscle precursor specific anlage

Adult neuronal ceroid lipofuscinosis

http://www.orpha.net/ORDO/Orphanet_79262

Adult neuronal ceroid lipofuscinoses (ANCLs) are a genetically heterogeneous group of neuronal ceroid lipofuscinoses (NCLs; see this term) with onset during the third decade of life, characterized by dementia, seizures and loss of motor capacities, and sometimes associated with visual loss caused by retinal degeneration.


parents

Neuronal ceroid lipofuscinosis

Progressive myoclonic epilepsy


children

CLN10 disease

CLN11 disease

CLN13 disease

CLN1 disease

CLN4A disease

CLN4B disease

CLN6 disease


synonyms

Adult NCL

ANCL

Kufs disease

Adult-onset autosomal dominant leukodystrophy

http://www.orpha.net/ORDO/Orphanet_99027


parents

Partial trisomy of the long arm of chromosome 5

Leukodystrophy

Abnormal eye movements

Adult-onset autosomal recessive cerebellar ataxia

http://www.orpha.net/ORDO/Orphanet_284289


parents

Autosomal recessive cerebellar ataxia


synonyms

Autosomal recessive spinocerebellar ataxia type 10

SCAR10

Adult-onset autosomal recessive sideroblastic anemia

http://www.orpha.net/ORDO/Orphanet_255132

) described in a single patient with adult onset microcytic hypochromic anemia with liver iron overload and type 2 diabetes.


parents

Mitochondrial substrate carrier disorder

Constitutional sideroblastic anemia


synonyms

GLRX5-related sideroblastic anemia

Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy

http://www.orpha.net/ORDO/Orphanet_329336


parents

Mitochondrial myopathy

Mitochondrial oxidative phosphorylation disorder due to a large-scale single deletion of mitochondrial DNA

Neurometabolic disease

Syndromic genetic deafness


synonyms

Adult-onset CPEO with mitochondrial myopathy

Adult-onset citrullinemia type I

http://www.orpha.net/ORDO/Orphanet_247573

Adult-onset citrullinemia type 1 is a form of citrullinemia type 1 (see this term) characterized clinically by adult onset of symptoms including variable hyperammonemia and less striking neurological findings which may include intense headache, scotomas, migraine-like episodes, ataxia, slurred speech, lethargy, and drowsiness. Serious increased intracranial pressure may occur.


parents

Citrullinemia type I


synonyms

Adult-onset citrullinemia type 1

Late-onset citrullinemia type 1

Late-onset citrullinemia type I

Adult-onset distal myopathy due to VCP mutation

http://www.orpha.net/ORDO/Orphanet_329478


parents

Autosomal dominant distal myopathy

Adult-onset dystonia-parkinsonism

http://www.orpha.net/ORDO/Orphanet_199351

Adult-onset dystonia-parkinsonism is a rare neurodegenerative disease usually presenting before the age of 30 and which is characterized by dystonia, L-dopa-responsive parkinsonism, pyramidal signs and rapid cognitive decline.


parents

Rare parkinsonian syndrome due to genetic neurodegenerative disease

PLA2G6-associated neurodegeneration

Persistent combined dystonia


synonyms

Dystonia-parkinsonism, Paisan-Ruiz type

PARK14

PLA2G6-related dystonia-parkinsonism

Adult-onset foveomacular vitelliform dystrophy

http://www.orpha.net/ORDO/Orphanet_99000

Adult-onset foveomacular vitelliform dystrophy (AOFVD) is a genetic macular dystrophy characterized by blurred vision, metamorphopsia and mild visual impairment secondary to a slightly elevated, yellow, egg yolk-like lesion located in the foveal or parafoveal region.


parents

Genetic macular dystrophy


synonyms

Adult-onset foveomacular dystrophy

Adult-onset foveomacular dystrophy with choroidal neovascularization

Adult-onset vitelliform macular dystrophy

AOFMD

AVMD

Gass disease

Pseudo-Best disease

Pseudo-vitelliform macular dystrophy

Adult-onset multiple mitochondrial DNA deletion syndrome due to DGUOK deficiency

http://www.orpha.net/ORDO/Orphanet_329314


parents

Mitochondrial myopathy

Multiple mitochondrial DNA deletion syndrome


synonyms

Adult-onset multiple mtDNA deletion syndrome due to DGUOK deficiency

Adult-onset nemaline myopathy

http://www.orpha.net/ORDO/Orphanet_171442

Adult-onset nemaline myopathy is a rapidly progressive type of nemaline myopathy (NM; see this term) characterized by a very late onset.


parents

Qualitative or quantitative defects of alpha-actin

Qualitative or quantitative defects of nebulin

Nemaline myopathy

Adult-onset non-insulinoma persistent hyperinsulinemic hypoglycemia

http://www.orpha.net/ORDO/Orphanet_276608

Diazoxide-resistant hyperinsulism (DRH) is form of congenital isolated hyperinsulinism (see this term) caused by an abnormal insulin production by b-cells in the pancreas that can be diffuse or focal and is characterized by an excessive/ uncontrolled insulin secretion (inappropriate for the level of glycemia) , recurrent episodes of profound hypoglycemia and resistance to medical management with diazoxide


parents

Familial hyperinsulinism


synonyms

NI-PHH

Adult-onset proximal spinal muscular atrophy, autosomal dominant

http://www.orpha.net/ORDO/Orphanet_209335


parents

Autosomal dominant proximal spinal muscular atrophy


synonyms

Finkel disease

Adult polyglucosan body disease

http://www.orpha.net/ORDO/Orphanet_206583

Adult polyglucosan body disease (APBD) is a glycogen storage disease of adults characterized by progressive upper and lower motor neuron dysfunction, progressive neurogenic bladder and cognitive difficulties that can lead to dementia.


parents

Rare hereditary metabolic disease with peripheral neuropathy

Glycogen storage disease due to glycogen branching enzyme deficiency


synonyms

APBD

adult segment

http://www.ebi.ac.uk/efo/EFO_0000961

One of the repeated divisions of the whole organism.


parents

animal component


synonyms

segment

segment - adult

ADULT syndrome

http://www.orpha.net/ORDO/Orphanet_978


parents

Genetic malformation syndrome with odontal and/or periodontal component

Genetic syndrome with limb reduction defects

EEC syndrome and related syndrome


synonyms

Acro-dermato-ungual-lacrimal-tooth syndrome

Pigment anomaly - ectrodactyly - hypodontia

advanced heart failure

http://www.ebi.ac.uk/efo/EFO_0003149


parents

heart failure


synonyms

ACC Stage D

NYHA class IV

Aedes aegypti

http://purl.obolibrary.org/obo/NCBITaxon_7159


parents

Eukaryota


synonyms

Stegomyia aegypti

yellow fever mosquito

Aedes albopictus

http://purl.obolibrary.org/obo/NCBITaxon_7160


parents

Eukaryota


synonyms

Asian tiger mosquito

forest day mosquito

Stegomyia albopicta

AE experiment type flag

http://www.ebi.ac.uk/efo/EFO_0004119

Flag for ArrayExpres experiment types


parents

validation flag

Aegilops tauschii

http://purl.obolibrary.org/obo/NCBITaxon_37682


parents

Viridiplantae


synonyms

Aegilops squarrosa

Aegilops squarrosa auct.

Aegilops squarrosa subsp. squarrosa

Aegilops tauschii Coss.

Aegilops tauschii Cosson

Patropyrum tauschii

Patropyrum tauschii subsp. tauschii

Triticum tauschii

Aegilops tauschii x Triticum turgidum

http://purl.obolibrary.org/obo/NCBITaxon_285950


parents

Viridiplantae


synonyms

synthetic wheat

aerial part

http://www.ebi.ac.uk/efo/EFO_0001901

Existing or growing in the air rather than in the ground or in water.


parents

tissue modifier


synonyms

aerial body

aerial tissue

Aeromonas hydrophila infection

http://www.ebi.ac.uk/efo/EFO_0000776

Aeromonas hydrophila infection is a bacterial disease caused by infection from the Aeromonas hydrophila bacteria.


parents

bacterial disease

AF16

http://www.ebi.ac.uk/efo/EFO_0004063

Strain of C. briggsae described with phenotypes; biofilm absent head (Bah), carbon dioxide response variant, mate finding defective


parents

Caenorhabditis briggsae

afimoxifene

http://purl.obolibrary.org/obo/CHEBI_44616


parents

drug


synonyms

4-hydroxytamoxifen

4-HYDROXYTAMOXIFEN

4-monohydroxytamoxifen

4-OHT

afimoxifene

C26H29NO2

aflatoxin B1

http://purl.obolibrary.org/obo/CHEBI_2504

An aflatoxin that has formula C17H12O6.

This gene is involved in cell adhesion, differentiation, division and stress response.


parents

chemical compound


synonyms

"Blue Bone" Formation

(6aR,9aS)-4-methoxy-2,3,6a,9a-tetrahydrocyclopenta[c]furo[3',2':4,5]furo[2,3-h]chromene-1,11-dione

[H][C@]12OC=C[C@@]1([H])c1c(O2)cc(OC)c2c3CCC(=O)c3c(=O)oc12

2,3,6aalpha,9aalpha-Tetrahydro-4-methoxycyclopenta(c)furo(3',2':4,5)furo(2,3-h)(1)benzopyran-1,11-dione

ABL1

ABL1 Gene

AFB1

C17H12O6

InChI=1/C17H12O6/c1-20-10-6-11-14(8-4-5-21-17(8)22-11)15-13(10)7-2-3-9(18)12(7)16(19)23-15/h4-6,8,17H,2-3H2,1H3/t8-,17+/m0/s1

InChIKey=OQIQSTLJSLGHID-WNWIJWBNBK

v-Abl Abelson Murine Leukemia Viral Oncogene Homolog 1 Gene

African

http://www.ebi.ac.uk/efo/EFO_0004561

Denotes a person with African ancestral origins who self identifies, or is identified, as African. The concept does not refer to those of other ancestry, for example, European and South Asian. In practice, the term mainly refers to people originated from forty-eight sub-Saharan Africa nations; and excudes individuals from North Africa countries, e.g. such as Algeria, Morocco, Egypt, Tunisia with Arab and Berber ethnicity.


parents

ethnic group


children

Yoruba

African American

http://www.ebi.ac.uk/efo/EFO_0003150

A term used in the United States to categorize a population group comprised of persons having origins in any of the black racial groups of Africa. Includes population subgroups (e.g., Kenyan, Nigerian, Haitian). The concept refers also to individuals who classify themselves as described.


parents

ethnic group


synonyms

Afro American

Black

BLACK OR AFRICAN AMERICAN

Black Populations

African iron overload

http://www.orpha.net/ORDO/Orphanet_139507

African iron overload is a rare disorder described in sub-Saharan African populations and is characterized by iron overload due to excess dietary iron intake and possibly genetic factors, leading to hepatic portal fibrosis and micronodular cirrhosis.


parents

Rare metabolic liver disease

Disorder of iron metabolism and transport


synonyms

Bantu siderosis

AG04147

http://purl.obolibrary.org/obo/CLO_0034780

BALTIMORE LONGITUDINAL STUDY ON AGING (BLSA) GERONTOLOGY RESEARCH CENTER (GRC) CELL CULTURE COLLECTION


parents

fibroblast derived cell line

Homo sapiens cell line


synonyms

AG04147 cell

AG04351

http://purl.obolibrary.org/obo/CLO_0034796

BALTIMORE LONGITUDINAL STUDY ON AGING (BLSA) GERONTOLOGY RESEARCH CENTER (GRC) CELL CULTURE COLLECTION


parents

fibroblast derived cell line

Homo sapiens cell line


synonyms

AG04351 cell

AG04655

http://purl.obolibrary.org/obo/CLO_0034915

GERONTOLOGY RESEARCH CENTER (GRC) CELL CULTURE COLLECTION BALTIMORE LONGITUDINAL STUDY ON AGING (BLSA)


parents

fibroblast derived cell line

Homo sapiens cell line


synonyms

AG04655 cell

AG05416

http://purl.obolibrary.org/obo/CLO_0035232

BALTIMORE LONGITUDINAL STUDY ON AGING (BLSA) GERONTOLOGY RESEARCH CENTER (GRC) CELL CULTURE COLLECTION


parents

fibroblast derived cell line

Homo sapiens cell line


synonyms

AG05416 cell

AG06237

http://purl.obolibrary.org/obo/CLO_0035254

BALTIMORE LONGITUDINAL STUDY ON AGING (BLSA) GERONTOLOGY RESEARCH CENTER (GRC) CELL CULTURE COLLECTION


parents

fibroblast derived cell line

Homo sapiens cell line


synonyms

AG06237 cell

AG07139

http://purl.obolibrary.org/obo/CLO_0035608

GERONTOLOGY RESEARCH CENTER (GRC) CELL CULTURE COLLECTION BALTIMORE LONGITUDINAL STUDY ON AGING (BLSA)


parents

fibroblast derived cell line

Homo sapiens cell line


synonyms

AG07139 cell

AG07307

http://purl.obolibrary.org/obo/CLO_0035579

BALTIMORE LONGITUDINAL STUDY ON AGING (BLSA) GERONTOLOGY RESEARCH CENTER (GRC) CELL CULTURE COLLECTION


parents

fibroblast derived cell line

Homo sapiens cell line


synonyms

AG07307 cell

AG08046

http://purl.obolibrary.org/obo/CLO_0033577

BALTIMORE LONGITUDINAL STUDY ON AGING (BLSA) GERONTOLOGY RESEARCH CENTER (GRC) CELL CULTURE COLLECTION


parents

fibroblast derived cell line

Homo sapiens cell line


synonyms

AG08046 cell

AG08048

http://purl.obolibrary.org/obo/CLO_0033570

BALTIMORE LONGITUDINAL STUDY ON AGING (BLSA) GERONTOLOGY RESEARCH CENTER (GRC) CELL CULTURE COLLECTION


parents

fibroblast derived cell line

Homo sapiens cell line


synonyms

AG08048 cell

AG08904

http://purl.obolibrary.org/obo/CLO_0031232

BALTIMORE LONGITUDINAL STUDY ON AGING (BLSA) GERONTOLOGY RESEARCH CENTER (GRC) CELL CULTURE COLLECTION


parents

fibroblast derived cell line

Homo sapiens cell line


synonyms

AG08904 cell

AG09699

http://purl.obolibrary.org/obo/CLO_0021913

GERONTOLOGY RESEARCH CENTER (GRC) CELL CULTURE COLLECTION BALTIMORE LONGITUDINAL STUDY ON AGING (BLSA)


parents

fibroblast derived cell line

Homo sapiens cell line


synonyms

AG09699 cell

AG09877

http://purl.obolibrary.org/obo/CLO_0021943

GERONTOLOGY RESEARCH CENTER (GRC) CELL CULTURE COLLECTION BALTIMORE LONGITUDINAL STUDY ON AGING (BLSA)


parents

fibroblast derived cell line

Homo sapiens cell line


synonyms

AG09877 cell

AG10049

http://purl.obolibrary.org/obo/CLO_0021875

BALTIMORE LONGITUDINAL STUDY ON AGING (BLSA) GERONTOLOGY RESEARCH CENTER (GRC) CELL CULTURE COLLECTION


parents

fibroblast derived cell line

Homo sapiens cell line


synonyms

AG10049 cell

AG10941

http://purl.obolibrary.org/obo/CLO_0021459

BALTIMORE LONGITUDINAL STUDY ON AGING (BLSA) GERONTOLOGY RESEARCH CENTER (GRC) CELL CULTURE COLLECTION


parents

fibroblast derived cell line

Homo sapiens cell line


synonyms

AG10941 cell

AG11364

http://purl.obolibrary.org/obo/CLO_0021597

BALTIMORE LONGITUDINAL STUDY ON AGING (BLSA) GERONTOLOGY RESEARCH CENTER (GRC) CELL CULTURE COLLECTION


parents

fibroblast derived cell line

Homo sapiens cell line


synonyms

AG11364 cell

AG11498

http://purl.obolibrary.org/obo/CLO_0021565

LAMIN A/C; LMNA HUTCHINSON-GILFORD PROGERIA SYNDROME; HGPS


parents

fibroblast derived cell line

Homo sapiens cell line


synonyms

AG11498 cell

AG11513

http://purl.obolibrary.org/obo/CLO_0022604

LAMIN A/C; LMNA HUTCHINSON-GILFORD PROGERIA SYNDROME; HGPS


parents

fibroblast derived cell line

Homo sapiens cell line


synonyms

AG11513 cell

AG11696

http://purl.obolibrary.org/obo/CLO_0022362

GERONTOLOGY RESEARCH CENTER (GRC) CELL CULTURE COLLECTION BALTIMORE LONGITUDINAL STUDY ON AGING (BLSA)


parents

fibroblast derived cell line

Homo sapiens cell line


synonyms

AG11696 cell

AG11726

http://purl.obolibrary.org/obo/CLO_0022371

BALTIMORE LONGITUDINAL STUDY ON AGING (BLSA) GERONTOLOGY RESEARCH CENTER (GRC) CELL CULTURE COLLECTION


parents

fibroblast derived cell line

Homo sapiens cell line


synonyms

AG11726 cell

AG13066

http://purl.obolibrary.org/obo/CLO_0022132

GERONTOLOGY RESEARCH CENTER (GRC) CELL CULTURE COLLECTION BALTIMORE LONGITUDINAL STUDY ON AGING (BLSA)


parents

fibroblast derived cell line

Homo sapiens cell line


synonyms

AG13066 cell

AG13145

http://purl.obolibrary.org/obo/CLO_0022107

GERONTOLOGY RESEARCH CENTER (GRC) CELL CULTURE COLLECTION BALTIMORE LONGITUDINAL STUDY ON AGING (BLSA)


parents

fibroblast derived cell line

Homo sapiens cell line


synonyms

AG13145 cell

AG13150

http://purl.obolibrary.org/obo/CLO_0022101

GERONTOLOGY RESEARCH CENTER (GRC) CELL CULTURE COLLECTION BALTIMORE LONGITUDINAL STUDY ON AGING (BLSA)


parents

fibroblast derived cell line

Homo sapiens cell line


synonyms

AG13150 cell

AG14446

http://purl.obolibrary.org/obo/CLO_0022320

GERONTOLOGY RESEARCH CENTER (GRC) CELL CULTURE COLLECTION BALTIMORE LONGITUDINAL STUDY ON AGING (BLSA)


parents

fibroblast derived cell line

Homo sapiens cell line


synonyms

AG14446 cell

Agammaglobulinemia

http://www.orpha.net/ORDO/Orphanet_183669


parents

Immunodeficiency predominantly affecting antibody production


children

Isolated agammaglobulinemia

Syndromic agammaglobulinemia

Agammaglobulinemia - microcephaly - craniosynostosis - severe dermatitis

http://www.orpha.net/ORDO/Orphanet_83617


parents

Multiple congenital anomalies/dysmorphic syndrome-intellectual disability

Genetic immune deficiency with skin involvement

Rare genetic intellectual disability with developmental anomaly

Syndromic agammaglobulinemia

agarose

http://purl.obolibrary.org/obo/CHEBI_2511

A polysaccharide that has formula (C12H18O9)n.


parents

chemical compound


synonyms

(1->4)-3,6-anhydro-alpha-L-galactopyranosyl-(1->3)-beta-D-galactopyranan

(C12H18O9)n

[4)-3,6-An-alpha-L-Galp-(1->3)-beta-D-Galp-(1->]n

InChI=1/C24H38O19/c25-1-5-9(27)11(29)12(30)22(38-5)41-17-8-4-36-20(17)15(33)24(40-8)43-18-10(28)6(2-26)39-23(14(18)32)42-16-7-3-35-19(16)13(31)21(34)37-7/h5-34H,1-4H2/t5-,6-,7+,8+,9+,10+,11+,12-,13+,14-,15+,16-,17-,18+,19+,20+,21-,22+,23+,24+/m1/s1

InChIKey=MJQHZNBUODTQTK-WKGBVCLCBX

Sepharose

agar stab specimen

http://purl.obolibrary.org/obo/OBI_0000981

a specimen that is output of a process that cell culture inoculated into agar for long term storage


parents

specimen with known storage state

age

http://www.ebi.ac.uk/efo/EFO_0000246

A temporal measurement of the time period elapsed since an identifiable point in the life cycle of an organism. If a developmental stage is specified, the identifiable point would be the beginning of that stage. Otherwise the identifiable point must be specified such as planting (e.g. 3 days post planting).


parents

temporal measurement


children

age at death

age at menarche

age at menopause

age at onset

gestational age


synonyms

http://mged.sourceforge.net/ontologies/MGEDOntology.owl#age

age at alcohol diagnosis

http://www.ebi.ac.uk/efo/EFO_0005602


parents

age at diagnosis

age at breast cancer diagnosis

http://www.ebi.ac.uk/efo/EFO_0005603


parents

age at diagnosis

age at death

http://www.ebi.ac.uk/efo/EFO_0005056

The age at which death occurs.


parents

age

age at diagnosis

http://www.ebi.ac.uk/efo/EFO_0004918

The age, measured from some defined time point e.g. birth at which a subject (e.g. a human patient) is diagnosed with some disease e.g. breast cancer.


parents

clinical temporal measurement


children

age at alcohol diagnosis

age at breast cancer diagnosis

age at menarche

http://www.ebi.ac.uk/efo/EFO_0004703

The age of onset of (human) menarche, the beginning of the first menstrual cycle in an individual


parents

age

age at menopause

http://www.ebi.ac.uk/efo/EFO_0004704

The age of onset of (human) menopause, the beginning of the first menstrual cycle in an individual


parents

age

age at onset

http://www.ebi.ac.uk/efo/EFO_0004847

The age at which some process, or disease started in a human individual.


parents

age

Agenesis of the corpus callosum - intellectual disability - coloboma - micrognathia

http://www.orpha.net/ORDO/Orphanet_52055

Agenesis of the corpus callosum - intellectual deficit - coloboma - micrognathia syndrome is a developmental anomalies syndrome characterized by coloboma of the iris and optic nerve, facial dysmorphism, intellectual deficit, agenesis of the corpus callosum (ACC), sensorineural hearing loss, skeletal anomalies and short stature.


parents

Multiple congenital anomalies/dysmorphic syndrome-intellectual disability

Syndromic developmental defect of the eye

Genetic syndrome with corpus callosum agenesis/dysgenesis as a major feature

X-linked syndromic intellectual disability

Rare eye disease due to a differentiation anomaly


synonyms

Graham-Cox syndrome

age of onset

http://purl.obolibrary.org/obo/HP_0011007

The age group in which disease manifestations appear.


parents

clinical temporal measurement

age-related hearing impairment

http://www.ebi.ac.uk/efo/EFO_0005782

Age-related hearing impairment is characterized by a symmetric sensorineural hearing loss that is most pronounced in the high frequencies. Age of onset, progression, and severity of age-related hearing impairment (ARHI) show great variation in the population, but with a demonstrable increased prevalence in males.


parents

hearing loss


synonyms

age-related hearing loss

age-related macular degeneration

http://www.ebi.ac.uk/efo/EFO_0001365

Degenerative changes in the macula lutea of the retina.

Degenerative changes in the RETINA usually of older adults which results in a loss of vision in the center of the visual field (the MACULA LUTEA) because of damage to the retina. It occurs in dry and wet forms.


parents

sensory system disease

eye disease


children

wet macular degeneration


synonyms

AAMD - Age related macular degeneration

Age Related Macular Degeneration

Age-related macular degeneration (disorder)

Age related macular degeneration (disorder) [Ambiguous]

Age-Related Macular Degenerations

Age Related Maculopathies

Age-Related Maculopathies

Age related maculopathy

Age-Related Maculopathy

AGE RELAT MACULOPATHIES

AGE RELAT MACULOPATHY

AMD - Age-related macular degeneration

Amended

ARMD

ARMD - Age-related macular degeneration

Degeneration, Age-Related Macular

Degeneration, Macular

Degenerations, Age-Related Macular

Degenerations, Macular

Dystrophies, Macular

Dystrophy, Macular

Macular Degeneration

Macular Degeneration, Age-Related

Macular degeneration (disorder)

Macular degeneration (senile) of retina, unspecified

MACULAR DEGENERATION NOS

Macular Degenerations

Macular Degenerations, Age-Related

Macular Dystrophies

Macular Dystrophy

Maculopathies, Age Related

Maculopathies, Age-Related

MACULOPATHIES AGE RELAT

Maculopathy, Age Related

Maculopathy, Age-Related

MACULOPATHY AGE RELAT

Senile macular degeneration

Senile macular degeneration of retina

Senile macular retinal degeneration

SMD - Senile macular degeneration

Unspecified senile macular degeneration

age-related nuclear cataract

http://purl.obolibrary.org/obo/HP_0011142

A type of age-related cataract that primarily affects the nucleus of the lens. As the lens ages, new layers of fibres are added and the lens nucleus is compressed and becomes harder (nuclear sclerosis cataract), with associated yellowing of the lens. Nuclear sclerosis typically progresses slowly.


parents

cataract

Aggrecan-related bone disorder

http://www.orpha.net/ORDO/Orphanet_364817


parents

Rare bone disease related to a common gene or pathway defect


children

Familial osteochondritis dissecans

Spondyloepimetaphyseal dysplasia, aggrecan type

Spondyloepiphyseal dysplasia, Kimberley type

Aggregatibacter actinomycetemcomitans

http://purl.obolibrary.org/obo/NCBITaxon_714


parents

Bacteria


synonyms

Actinobacillus (Haemophilus) actinomycetemcomitans

Actinobacillus actinomycetemcomi

Actinobacillus actinomycetemcomitans

Bacterium acetinomycetum comitans

Bacterium actinomycetem comitans

Bacterium comitans

Haemophilus actinomycetemcomitans

Haemophilus actinomyceticomitans

Aggregatibacter actinomycetemcomitans HK1651

http://purl.obolibrary.org/obo/NCBITaxon_272556


parents

Bacteria


synonyms

Actinobacillus actinomycetemcomitans HK1651

Aggregatibacter actinomycetemcomitans str. HK1651

Aggregatibacter actinomycetemcomitans strain HK1651

aggressive

http://www.ebi.ac.uk/efo/EFO_0002752


parents

disease staging

aggressive behavior

http://www.ebi.ac.uk/efo/EFO_0003015

Agressive behaviour is the process of engaging on hostile, affective, or retaliatory aggression and instrumental, predatory, or goal-oriented aggression towards other individuals.


parents

behavior


synonyms

aggression

aggressive behaviour

aggressive insulitis

http://www.ebi.ac.uk/efo/EFO_0002498

Insulitis is an inflammatory infiltration of the islets of Langerhans found especially in young patients with recent onset type 1 diabetes.


parents

immune system disease

endocrine system disease

aging

http://purl.obolibrary.org/obo/GO_0007568

The gradual irreversible changes in structure and function of an organism that occur as a result of the passage of time.


parents

biological process


children

skin aging


synonyms

Aging, Biological

AGING BIOL

BIOL AGING

Biological Aging

Senescence

AGM hematopoietic stem cell

http://purl.obolibrary.org/obo/CL_0002360


parents

gestational hematopoietic stem cell

Agnathia - holoprosencephaly - situs inversus

http://www.orpha.net/ORDO/Orphanet_990


parents

Multiple congenital anomalies/dysmorphic syndrome-intellectual disability

Rare genetic intellectual disability with developmental anomaly

Agrobacterium

http://purl.obolibrary.org/obo/NCBITaxon_357


parents

Bacteria


synonyms

Polymonas

Agrobacterium larrymoorei

http://purl.obolibrary.org/obo/NCBITaxon_160699


parents

Bacteria


synonyms

Rhizobium larrymoorei

Agrobacterium tumefaciens

http://purl.obolibrary.org/obo/NCBITaxon_358


parents

Bacteria


synonyms

Achromobacter radiobacter

Agrobacterium biovar 1

Agrobacterium radiobacter

Agrobacterium tumefacien

Alcaligenes radiobacter

Bacillus radiobacter

Bacterium radiobacter

Bacterium tumefaciens

Phytomonas tumefaciens

Polymonas tumefaciens

Pseudomonas radiobacter

Pseudomonas tumefaciens

Rhizobium radiobacter

Agrobacterium tumefaciens str. C58

http://purl.obolibrary.org/obo/NCBITaxon_176299


parents

Bacteria

agrochemical role

http://purl.obolibrary.org/obo/CHEBI_33286

An agrochemical is a substance that is used in agriculture or horticulture.


parents

chemical role


children

fertilizer


synonyms

agrichemical

agrichemicals

agricultural chemicals

agrochemicals

Agrotis ipsilon

http://purl.obolibrary.org/obo/NCBITaxon_56364


parents

Eukaryota


synonyms

Agrotis ipsolon

Agrotis ypsilon

black cutworm moth

dark sword grass moth

greasy cutworm moth

Agrotis segetum

http://purl.obolibrary.org/obo/NCBITaxon_47767


parents

Eukaryota


synonyms

turnip moth

AGS

http://www.ebi.ac.uk/efo/EFO_0002109


parents

cancer cell line

Aicardi-Goutières syndrome

http://www.orpha.net/ORDO/Orphanet_51


parents

Rare genetic intellectual disability with developmental anomaly

Leukodystrophy


synonyms

Encephalopathy with basal ganglia calcification

Encephalopathy with intracranial calcification and chronic lymphocytosis of cerebrospinal fluid

Aicardi syndrome

http://www.orpha.net/ORDO/Orphanet_50


parents

Syndromic developmental defect of the eye

Cerebral malformation with epilepsy

Polymalformative genetic syndrome with increased risk of developing cancer

Genetic syndrome with corpus callosum agenesis/dysgenesis as a major feature

X-linked syndromic intellectual disability

Nervous system anomaly with eye involvement


synonyms

Corpus callosum agenesis of with chorioretinal abnormality

AICA-ribosiduria

http://www.orpha.net/ORDO/Orphanet_250977

AICA-ribosiduria is an extremely severe inborn error of purine biosynthesis characterized clinically in the single reported case to date by profound intellectual deficit, epilepsy, dysmorphic features of the knees, elbows, and shoulders and congenital blindness.


parents

Multiple congenital anomalies/dysmorphic syndrome-intellectual disability

Rare genetic intellectual disability with developmental anomaly

Disorder of purine metabolism

Genetic macular dystrophy


synonyms

5-amino-4-imidazole carboxamide ribosiduria

ATIC deficiency

AIDS

http://www.ebi.ac.uk/efo/EFO_0000765

Acquired immunodeficiency syndrome is a HIV infection consisting of a disease of the human immune system that is characterized cytologically especially by a reduction in the numbers of CD4-bearing helper T cells to 20 percent or less of normal thereby rendering the subject highly vulnerable to life-threatening conditions (as Pneumocystis carinii pneumonia) and to some that become life threatening (as Kaposi's sarcoma) and that is caused by infection with HIV commonly transmitted in infected blood especially during illicit intravenous drug use and in bodily secretions (as semen) during sexual intercourse.

A Human immunodeficiency virus infectious disease that results_in reduction in the numbers of CD4-bearing helper T cells below 200 per µL of blood or 14% of all lymphocytes thereby rendering the subject highly vulnerable to life-threatening infections and cancers, has_agent Human immunodeficiency virus 1 or has_agent Human immunodeficiency virus 2, which are transmitted_by sexual contact, transmitted_by transfer of blood, semen, vaginal fluid, pre-ejaculate, or breast milk, transmitted_by congenital method, and transmitted_by contaminated needles. Opportunistic infections are common in people with AIDS.

An acquired defect of cellular immunity associated with infection by the human immunodeficiency virus (HIV), a CD4-positive T-lymphocyte count under 200 cells/microliter or less than 14% of total lymphocytes, and increased susceptibility to opportunistic infections and malignant neoplasms. Clinical manifestations also include emaciation (wasting) and dementia. These elements reflect criteria for AIDS as defined by the CDC in 1993.

An HIV infectious disease that is a characterized cytologically by a reduction in the numbers of CD4-bearing helper T cells to 20 percent or less of normal thereby rendering the subject highly vulnerable to life-threatening conditions (as Pneumocystis carinii pneumonia) and to some that become life threatening (as Kaposi's sarcoma) and that is caused by infection with HIV commonly transmitted in infected blood especially during illicit intravenous drug use and in bodily secretions (as semen) during sexual intercourse.

A syndrome resulting from the acquired deficiency of cellular immunity caused by the human immunodeficiency virus (HIV). It is characterized by the reduction of the Helper T-lymphocytes in the peripheral blood and the lymph nodes. Symptoms include generalized lymphadenopathy, fever, weight loss, and chronic diarrhea. Patients with AIDS are especially susceptible to opportunistic infections (usually pneumocystis carinii pneumonia, cytomegalovirus (CMV) infections, tuberculosis, candida infections, and cryptococcosis), and the development of malignant neoplasms (usually non-Hodgkin's lymphoma and Kaposi's sarcoma). The human immunodeficiency virus is transmitted through sexual contact, sharing of contaminated needles, or transfusion of contaminated blood.

A syndrome resulting from the acquired deficiency of cellular immunity caused by the human immunodeficiency virus (HIV). It is characterized by the reduction of the Helper T-lymphocytes in the peripheral blood and the lymph nodes. Symptoms include generalized lymphadenopathy, fever, weight loss, and chronic diarrhea. Patients with AIDS are especially susceptible to opportunistic infections (usually pneumocystis carinii pneumonia, cytomegalovirus (CMV) infections, tuberculosis, candida infections, and cryptococcosis), and the development of malignant neoplasms (usually non-Hodgkin's lymphoma and Kaposi's sarcoma). The human immunodeficiency virus is transmitted through sexual contact, sharing of contaminated needles, or transfusion of contaminated blood. -- 2004

A syndrome resulting from the acquired deficiency of cellular immunity caused by the human immunodeficiency virus (HIV). It is characterized by the reduction of the Helper T-lymphocytes in the peripheral blood and the lymph nodes. Symptoms include generalized lymphadenopathy, fever, weight loss, and chronic diarrhea. Patients with AIDS are especially susceptible to opportunistic infections (usually pneumocystis carinii pneumonia, cytomegalovirus (CMV) infections, tuberculosis, candida infections, and cryptococcosis), and the development of malignant neoplasms (usually non-Hodgkin's lymphoma and Kaposi's sarcoma). The human immunodeficiency virus is transmitted through sexual contact, sharing of contaminated needles, or transfusion of contaminated blood.


parents

HIV infection


synonyms

Acquired human immunodeficiency virus infection syndrome NOS

acquired human immunodeficiency virus infection syndrome NOS (disorder)

Acquired immune defic. syndr.

acquired Immune deficiency

acquired immunedeficiency syndrome

acquired immune deficiency syndrome

Acquired immune deficiency syndrome, NOS

Acquired immune deficiency syndrome (AIDS)

Acquired immune deficiency syndrome (AIDS) (disorder)

ACQUIRED IMMUNE DEFIC SYNDROME

Acquired immunodeficiency syndrome

Acquired Immuno Deficiency Syndrome

Acquired Immuno-Deficiency Syndrome

ACQUIRED IMMUNODEFICIENCY SYNDROME, AIDS

Acquired immunodeficiency syndrome, NOS

Acquired Immunodeficiency Syndromes

Acquired Immuno-Deficiency Syndromes

ACQUIRED IMMUNODEFIC SYNDROME

ACQUIRED IMMUNO DEFIC SYNDROME

AIDS, ACQUIRED IMMUNODEFICIENCY SYNDROME

AIDS, NOS

AIDS (disorder)

AIDS - Acquired immunodeficiency syndrome

Immunodeficiency due to human immunodeficiency virus infection

Immunodeficiency Syndrome, Acquired

Immuno-Deficiency Syndrome, Acquired

Immunodeficiency Syndromes, Acquired

Immuno-Deficiency Syndromes, Acquired

IMMUNODEFIC SYNDROME ACQUIRED

IMMUNOL DEFIC SYNDROME ACQUIRED

Immunologic Deficiency Syndrome, Acquired

Syndrome, Acquired Immunodeficiency

Syndrome, Acquired Immuno-Deficiency

Syndromes, Acquired Immunodeficiency

Syndromes, Acquired Immuno-Deficiency

AIDS dementia

http://www.ebi.ac.uk/efo/EFO_0002608

A brain disease and is_a HIV encephalopathy that results_in infection in adults located_in brain, has_agent Human immunodeficiency virus 1 or has_agent Human immunodeficiency virus 2. The infection has_symptom cognitive impairment, has_symptom motor dysfunction, has_symptom behavioral change, and has_symptom speech problems.

A HIV encephalopathy and is_a brain disease that results_in infection in adults located_in brain, has_agent Human immunodeficiency virus 1 or has_agent Human immunodeficiency virus 2. The infection has_symptom cognitive impairment, has_symptom motor dysfunction, has_symptom behavioral change, and has_symptom speech problems.


parents

dementia


synonyms

Acquired immune deficiency syndrome dementia complex

AIDS dementia complex

AIDS with dementia (disorder)

HIV associated cognitive and motor complex

HIV-associated dementia

HIV encephalitis

airway hyperresponsiveness

http://www.ebi.ac.uk/efo/EFO_0005414

one of the primary characteristics of asthma, characterised by easily triggered increased airway smooth muscle contractility


parents

sign or symptom

Ajellomyces capsulatus

http://purl.obolibrary.org/obo/NCBITaxon_5037


parents

Ascomycota


synonyms

Ajellomyces capsulata

Ajellomyces capsulatas

Histoplasma capsulatum

ajmaline

http://purl.obolibrary.org/obo/CHEBI_28462


parents

chemical compound


synonyms

(+)-Ajmaline

ajmalan-17alpha,21alpha-diol

Ajmaline

C20H26N2O2

Alacrimia-choreoathetosis-liver dysfunction syndrome

http://www.orpha.net/ORDO/Orphanet_404454


parents

Rare genetic intellectual disability with developmental anomaly

Other metabolic disease


synonyms

CDG1V

NGLY1-CDG

NGLY1 deficiency

Alagille syndrome

http://www.orpha.net/ORDO/Orphanet_52


parents

Syndromic visceral malformation

Syndromic developmental defect of the eye

Rare syndrome with cardiac malformations

Genetic biliary tract disease

Polymalformative genetic syndrome with increased risk of developing cancer

Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability

Syndromic renal or urinary tract malformation

Rare disease with glaucoma as a major feature


children

Alagille syndrome due to 20p12 microdeletion

Alagille syndrome due to a JAG1 point mutation

Alagille syndrome due to a NOTCH2 point mutation


synonyms

Alagille-Watson syndrome

Arteriohepatic dysplasia

Syndromic bile duct paucity

Alagille syndrome due to 20p12 microdeletion

http://www.orpha.net/ORDO/Orphanet_261600


parents

Partial monosomy of the short arm of chromosome 20

Alagille syndrome


synonyms

Alagille syndrome due to del(20)(p12)

Alagille syndrome due to monosomy 20p12

Alagille-Watson syndrome due to monosomy 20p12

Arteriohepatic dysplasia due to monosomy 20p12

Syndromic bile duct paucity due to monosomy 20p12

Alagille syndrome due to a JAG1 point mutation

http://www.orpha.net/ORDO/Orphanet_261619


parents

Alagille syndrome


synonyms

Alagille-Watson syndrome due to a JAG1 point mutation

Arteriohepatic dysplasia due to a JAG1 point mutation

Syndromic bile duct paucity due to a JAG1 point mutation

Alagille syndrome due to a NOTCH2 point mutation

http://www.orpha.net/ORDO/Orphanet_261629


parents

Alagille syndrome


synonyms

Alagille-Watson syndrome due to a NOTCH2 point mutation

Arteriohepatic dysplasia due to a NOTCH2 point mutation

Syndromic bile duct paucity due to a NOTCH2 point mutation

AL amyloidosis

http://www.orpha.net/ORDO/Orphanet_85443

AL Amyloidosis is a plasma cell disorder characterized by the aggregation and deposition of insoluble amyloid fibrils derived from misfolding of monoclonal immunoglobulin light chains usually produced by a plasma cell tumor (see this term). It usually presents as primary systemic amyloidosis (PSA) with multiple organ involvement and less frequently as primary localized amyloidosis (PLA; see these terms) restricted to a single organ.


parents

Rare familial disorder with hypertrophic cardiomyopathy


children

Primary localized amyloidosis

Primary systemic amyloidosis


synonyms

Immunoglobulinic amyloidosis

Light-chain amyloidosis

Primary amyloidosis

Åland Islands eye disease

http://www.orpha.net/ORDO/Orphanet_178333

Aland Island Eye Disease (AIED) is an X-linked recessive retinal disease characterized by fundus hypopigmentation, decrased visual acuity, nystagmus, astigmatism, progressive axial myopia, defective dark adaptation and protanopia.


parents

Retinal dystrophy


synonyms

AIED

Forsius-Eriksson syndrome

Forsius-Eriksson type ocular albinism

alanine

http://purl.obolibrary.org/obo/CHEBI_16449

An alpha-amino acid that has formula C3H7NO2.


parents

creatinine

amino acid

metabolite


synonyms

2-aminopropanoic acid

2-Aminopropionic acid

Alanin

alanina

C3H7NO2

CC(N)C(O)=O

InChI=1/C3H7NO2/c1-2(4)3(5)6/h2H,4H2,1H3,(H,5,6)/f/h5H

InChIKey=QNAYBMKLOCPYGJ-JSWHHWTPCH

Alar cartilages hypoplasia - coloboma - telecanthus

http://www.orpha.net/ORDO/Orphanet_2007

Alar cartilages hypoplasia- coloboma- telecanthus is a very rare dysmorphic disorder characterized by hypoplasia and coloboma of the alar cartilages and telecanthus described in 2 sisters. No new cases with similar features have been reported since 1976.


parents

Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability

Albers-Schönberg osteopetrosis

http://www.orpha.net/ORDO/Orphanet_53

Albers-Schönberg osteopetrosis is a sclerosing disorder of the skeleton characterized by increased bone density that classically displays the radiographic sign of ''sandwich vertebrae'' (dense bands of sclerosis parallel to the vertebral endplates).


parents

Osteopetrosis

Unclassified primitive or secondary maculopathy

Autosomal recessive syndromic optic atrophy


synonyms

Osteopetrosis autosomal dominant type 2

Albinism-deafness syndrome

http://www.orpha.net/ORDO/Orphanet_998


parents

Genetic hypopigmentation of the skin

Syndromic genetic deafness

Albright hereditary osteodystrophy

http://www.orpha.net/ORDO/Orphanet_665

Albright hereditary osteodystrophy (AHO) describes a constellation of clinical manifestations, seen in certain forms of pseudohypoparathyroidism (PHP; see this term) and other types of hormone resistance, consisting of short stature, rounded face, subcutaneous ossifications, brachydactyly and variable degrees of developmental delay.


parents

Genetic dermis disorder

Syndromic obesity

Syndrome with brachydactyly

Pseudohypoparathyroidism

Musculoskeletal disease with cataract


children

Pseudohypoparathyroidism type 1A

Pseudohypoparathyroidism type 1C

Pseudopseudohypoparathyroidism

albumin:globulin ratio measurement

http://www.ebi.ac.uk/efo/EFO_0005128

quantification of the ratio of the protein albumin to globulin in the blood serum


parents

hematological measurement

albuminuria

http://www.ebi.ac.uk/efo/EFO_0004285

The presence of albumin in the urine, an indicator of KIDNEY DISEASES.


parents

sign or symptom


synonyms

urinary albumin excretion

alcohol and nicotine codependence

http://www.ebi.ac.uk/efo/EFO_0004776

A drug dependence that is the physiological result of being addicted to alcohol and nicotine.


parents

drug dependence

alcohol dependence

http://www.ebi.ac.uk/efo/EFO_0003829

A primary, chronic disease with genetic, psychosocial, and environmental factors influencing its development and manifestations. The disease is often progressive and fatal. It is characterized by impaired control over drinking, preoccupation with the drug alcohol, use of alcohol despite adverse consequences, and distortions in thinking, most notably denial. Each of these symptoms may be continuous or periodic. (Morse & Flavin for the Joint Commission of the National Council on Alcoholism and Drug Dependence and the American Society of Addiction Medicine to Study the Definition and Criteria for the Diagnosis of Alcoholism: in JAMA 1992;268:1012-4)

Disorders related to or resulting from abuse or mis-use of alcohol.


parents

drug dependence


synonyms

Abuse, Alcohol

Alcohol Abuse

ALCOHOLIC INTOX CHRONIC

Alcoholic Intoxication, Chronic

alcoholism

ALCOHOL RELATED DIS

Alcohol-Related Disorder

Alcohol Related Disorders

Alcohol-Related Disorders

Chronic Alcoholic Intoxication

Disorder, Alcohol-Related

Disorders, Alcohol-Related

Intoxication, Chronic Alcoholic

alcohol drinking

http://www.ebi.ac.uk/efo/EFO_0004329

Behaviors associated with the ingesting of alcoholic beverages, including social drinking.


parents

drinking behavior


synonyms

alcohol consumption

alcohol withdrawal

http://www.ebi.ac.uk/efo/EFO_0004777


parents

drug dependence


synonyms

alcohol withdrawal syndrome

ALDH18A1-related De Barsy syndrome

http://www.orpha.net/ORDO/Orphanet_35664


parents

De Barsy syndrome


synonyms

Delta-1-pyrroline 5-carboxylate synthetase deficiency

Neurocutaneous syndrome, Bicknell type

P5CS deficiency

aldicarb

http://purl.obolibrary.org/obo/CHEBI_2555

Human CXCL10 wild-type allele is located within 4q21 and is approximately 2 kb in length. This allele, which encodes small inducible cytokine B10 protein, plays a role in both immune cell migration and in the modulation of adhesion molecule expression.

The oxime carbamate resulting from the addition of 2-methyl-2-(methylsulfanyl)propanaldoxime to methyl isocyanate. A member of the class of oxime carbamate insecticides, aldicarb is a mixture of E and Z isomers; it is not known which isomer is more active.


parents

chemical compound


synonyms

[H]C(=NOC(=O)NC)C(C)(C)SC

2-Methyl-2-(methylthio)propanal, O-((methylamino)carbonyl)oxime

2-Methyl-2-(methylthio)propionaldehyde O-(methylcarbamoyl)oxime

2-Methyl-2-methylthio-propionaldehyd-O-(N-methyl-carbamoyl)-oxim

2-methyl-N-[(methylcarbamoyl)oxy]-2-(methylsulfanyl)propan-1-imine

aldicarbe

C7

C7H14N2O2S

Chemokine (C-X-C Motif) Ligand 10 wt Allele

CRG-2

CXCL10 wt Allele

gIP-10

IFI10

InChI=1/C7H14N2O2S/c1-7(2,12-4)5-9-11-6(10)8-3/h5H,1-4H3,(H,8,10)/f/h8H

InChIKey=QGLZXHRNAYXIBU-FZOZFQFYCY

INP10

IP-10

MOB-1

SCYB10

aldosterone

http://purl.obolibrary.org/obo/CHEBI_27584

A 18-oxo steroid that has formula C21H28O5.

A pregnane-based steroidal hormone produced by the outer-section (zona glomerulosa) of the adrenal cortex in the adrenal gland, and acts on the distal tubules and collecting ducts of the kidney to cause the conservation of sodium, secretion of potassium, increased water retention, and increased blood pressure. The overall effect of aldosterone is to increase reabsorption of ions and water in the kidney.


parents

chemical compound


synonyms

(11beta)-11,21-dihydroxy-3,20-dioxopregn-4-en-18-al

[H][C@@]1(CC[C@@]2([H])[C@]3([H])CCC4=CC(=O)CC[C@]4(C)[C@@]3([H])[C@@H](O)C[C@]12C=O)C(=O)CO

11beta,21-dihydroxy-3,20-dioxopregn-4-en-18-al

C21H28O5

InChI=1/C21H28O5/c1-20-7-6-13(24)8-12(20)2-3-14-15-4-5-16(18(26)10-22)21(15,11-23)9-17(25)19(14)20/h8,11,14-17,19,22,25H,2-7,9-10H2,1H3/t14-,15-,16+,17-,19+,20-,21+/m0/s1

InChIKey=PQSUYGKTWSAVDQ-ZVIOFETBBV

Aldosterone-producing adenoma with seizures and neurological abnormalities

http://www.orpha.net/ORDO/Orphanet_369929


parents

Genetic hyperaldosteronism


synonyms

Aldosterone-secreting adenoma with seizures and neurological abnormalities

APA with seizures and neurological abnormalities

Conn adenoma with seizures and neurological abnormalities

alendronic acid

http://purl.obolibrary.org/obo/CHEBI_2567


parents

acid


synonyms

(4-amino-1-hydroxybutane-1,1-diyl)bis(phosphonic acid)

(4-Amino-1-hydroxybutylidene)bisphosphonic acid

acide alendronique

acido alendronico

acidum alendronicum

alendronate

InChI=1/C4H13NO7P2/c5-3-1-2-4(6,13(7,8)9)14(10,11)12/h6H,1-3,5H2,(H2,7,8,9)(H2,10,11,12)/f/h7-8,10-11H

InChIKey=OGSPWJRAVKPPFI-WMXLOSIUCK

NCCCC(O)(P(O)(O)=O)P(O)(O)=O

Alexa Fluor 555

http://www.ebi.ac.uk/efo/EFO_0004968


parents

chemical compound

Alexa Fluor 647

http://www.ebi.ac.uk/efo/EFO_0004967


parents

chemical compound

Alexander disease

http://www.orpha.net/ORDO/Orphanet_58

Alexander disease (AxD) is a rare neurodegenerative disorder of the astrocytes comprised of two clinical forms: AxD Type I and Type II (see these terms) manifesting with various degrees of macrocephaly, spasticity, ataxia and seizures and leading to psychomotor regression and death.


parents

Genetic neurodegenerative disease

Leukodystrophy

Abnormal eye movements


children

Alexander disease type I

Alexander disease type II


synonyms

AxD

Alexander disease type I

http://www.orpha.net/ORDO/Orphanet_363717

Alexander disease type I (AxD type I) is an astrogliopathy and the most severe and common form of Alexander disease (AxD; see this term), presenting before the age of 4 and characterized by seizures, megalencephaly and developmental delay with progressive deterioration.


parents

Alexander disease


synonyms

AxD type I

Alexander disease type II

http://www.orpha.net/ORDO/Orphanet_363722

Alexander disease type II (AxD type II) is an astrogliopathy and a form of Alexander disease (AxD; see this term) characterized by ataxia, bulbar symptoms, spastic paraparesis, palatal myoclonus, and autonomic symptoms.


parents

Alexander disease


synonyms

AxD type II

Alexandrium tamarense

http://purl.obolibrary.org/obo/NCBITaxon_2926


parents

Eukaryota


synonyms

Alexandrium tamarence

ALG11-CDG

http://www.orpha.net/ORDO/Orphanet_280071


parents

Disorder of protein N-glycosylation

Non-X-linked congenital disorder of glycosylation with intellectual disability as a major feature

Congenital disorder of glycosylation with epilepsy as a major feature


synonyms

Carbohydrate deficient glycoprotein syndrome type Ip

CDG1P

CDG-Ip

CDG syndrome type Ip

Congenital disorder of glycosylation type 1p

Congenital disorder of glycosylation type Ip

ALG12-CDG

http://www.orpha.net/ORDO/Orphanet_79324


parents

Disorder of protein N-glycosylation

Congenital disorder of glycosylation with neurological involvement


synonyms

Carbohydrate deficient glycoprotein syndrome type Ig

CDG1G

CDG-Ig

CDG syndrome type Ig

Congenital disorder of glycosylation type 1g

Congenital disorder of glycosylation type Ig

Mannosyltransferase 8 deficiency

ALG13-CDG

http://www.orpha.net/ORDO/Orphanet_324422


parents

Disorder of protein N-glycosylation

Congenital disorder of glycosylation with epilepsy as a major feature

Congenital disorder of glycosylation with hepatic involvement


synonyms

CDG1S

CDG-Is

CDG syndrome type Is

Congenital disorder of glycosylation type 1s

Congenital disorder of glycosylation type Is

ALG1-CDG

http://www.orpha.net/ORDO/Orphanet_79327


parents

Disorder of protein N-glycosylation

Non-X-linked congenital disorder of glycosylation with intellectual disability as a major feature

Congenital disorder of glycosylation with epilepsy as a major feature


synonyms

Carbohydrate deficient glycoprotein syndrome type Ik

CDG1K

CDG-Ik

CDG syndrome type Ik

Congenital disorder of glycosylation type 1k

Congenital disorder of glycosylation type Ik

Mannosyltransferase 1 deficiency

ALG2-CDG

http://www.orpha.net/ORDO/Orphanet_79326


parents

Disorder of protein N-glycosylation

Non-X-linked congenital disorder of glycosylation with intellectual disability as a major feature

Congenital disorder of glycosylation with epilepsy as a major feature

Congenital disorder of glycosylation with hepatic involvement


synonyms

Carbohydrate deficient glycoprotein syndrome type Ii

CDG1I

CDG-Ii

CDG syndrome type Ii

Congenital disorder of glycosylation type 1i

Congenital disorder of glycosylation type Ii

Mannosyltransferase 2 deficiency

ALG3-CDG

http://www.orpha.net/ORDO/Orphanet_79321


parents

Disorder of protein N-glycosylation

Non-X-linked congenital disorder of glycosylation with intellectual disability as a major feature

Congenital disorder of glycosylation with epilepsy as a major feature


synonyms

Carbohydrate deficient glycoprotein syndrome type Id

CDG1D

CDG-Id

CDG syndrome type Id

Congenital disorder of glycosylation type 1d

Congenital disorder of glycosylation type Id

Mannosyltransferase 6 deficiency

ALG6-CDG

http://www.orpha.net/ORDO/Orphanet_79320


parents

Disorder of protein N-glycosylation

Congenital disorder of glycosylation with epilepsy as a major feature

Congenital disorder of glycosylation with intestinal involvement


synonyms

Carbohydrate deficient glycoprotein syndrome type Ic

CDG1C

CDG-Ic

CDG syndrome type Ic

Congenital disorder of glycosylation type 1c

Congenital disorder of glycosylation type Ic

Glucosyltransferase 1 deficiency

ALG8-CDG

http://www.orpha.net/ORDO/Orphanet_79325


parents

Disorder of protein N-glycosylation

Non-X-linked congenital disorder of glycosylation with intellectual disability as a major feature

Congenital disorder of glycosylation with hepatic involvement

Congenital disorder of glycosylation with intestinal involvement

Congenital disorder of glycosylation with nephropathy as a major feature


synonyms

Carbohydrate deficient glycoprotein syndrome type Ih

CDG1H

CDG-Ih

CDG syndrome type Ih

Congenital disorder of glycosylation type 1h

Congenital disorder of glycosylation type Ih

Glucosyltransferase 2 deficiency

ALG9-CDG

http://www.orpha.net/ORDO/Orphanet_79328


parents

Disorder of protein N-glycosylation

Congenital disorder of glycosylation with epilepsy as a major feature

Congenital disorder of glycosylation with hepatic involvement


synonyms

Carbohydrate deficient glycoprotein syndrome type IL

CDG1L

CDG-IL

CDG syndrome type IL

Congenital disorder of glycosylation type 1L

Congenital disorder of glycosylation type IL

Mannosyltransferase 7-9 deficiency

Aliivibrio salmonicida LFI1238

http://purl.obolibrary.org/obo/NCBITaxon_316275


parents

Bacteria


synonyms

Aliivibrio salmonicida str. LFI1238

Aliivibrio salmonicida strain LFI1238

Vibrio salmonicida LFI1238

alive

http://purl.obolibrary.org/obo/PATO_0001421


parents

viability


synonyms

living

pre-mortem

alive at endpoint

http://www.ebi.ac.uk/efo/EFO_0004951

A clinical temporal measurement indicating that the subject is alive at the end of the clinical investigation.


parents

clinical temporal measurement

alkaline phosphatase measurement

http://www.ebi.ac.uk/efo/EFO_0004533

Alkaline phosphatase measurement is a quantification of alkaline phosphatase in blood. AP is a marker for bone and liver disease.


parents

liver enzyme measurement


synonyms

AP

Alkaptonuria

http://www.orpha.net/ORDO/Orphanet_56

Alkaptonuria is a metabolic disease characterized by the accumulation of homogentisic acid (HGA) and its oxidized product benzoquinone acetic acid (BQA) in various tissues (e.g., cartilage, connective tissue) and body fluids (urine, sweat), leading to a darkening of the urine when it is left exposed to air, grey-blue colouration of the eye sclerae and the ear helix (ochronosis), and a disabling joint disease involving both the axial and peripheral joints (ochronotic arthropathy).


parents

Disorder of tyrosine metabolism

Metabolic disease with skin involvement

Pigmented conjunctival lesion


synonyms

Hereditary ochronosis

Homogentisic acid oxidase deficiency

alkylating agent role

http://purl.obolibrary.org/obo/CHEBI_22333

Highly reactive chemical that introduces alkyl radicals into biologically active molecules and thereby prevents their proper functioning. It could be used as an antineoplastic agent, but it might be very toxic, with carcinogenic, mutagenic, teratogenic, and immunosuppressant actions. It could also be used as a component of poison gases.


parents

chemical role

Allan-Herndon-Dudley syndrome

http://www.orpha.net/ORDO/Orphanet_59


parents

Peripheral hypothyroidism

Pelizaeus-Merzbacher-like disease

Pure or complex X-linked spastic paraplegia

X-linked syndromic intellectual disability


synonyms

AHDS

MCT8 deficiency

Monocarboxylate transporter 8 deficiency

X-linked intellectual disability - hypotonia

all-cis-icosa-5,8,11,14,17-pentaenoic acid

http://purl.obolibrary.org/obo/CHEBI_28364

A monounsaturated long-chain fatty acid with a 20-carbon backbone and the sole double bond originating from the 9th position from the methyl end, with the bond in the cis- configuration.

An eicosapentaenoic acid having cis double bonds at positions 5, 8, 11, 14 and 17.

An icosapentaenoic acid that has formula C20H30O2.


parents

acid


synonyms

(5Z,8Z,11Z,14Z,17Z)-5,8,11,14,17-eicosapentaenoic acid

(5Z,8Z,11Z,14Z,17Z)-Eicosapentaenoate

(5Z,8Z,11Z,14Z,17Z)-Eicosapentaenoic acid

(5Z,8Z,11Z,14Z,17Z)-icosa-5,8,11,14,17-pentaenoic acid

(5Z,8Z,11Z,14Z,17Z)-Icosapentaenoic acid

(all-Z)-5,8,11,14,17-eicosapentaenoic acid

11-Eicosenoic Acid

5,8,11,14,17-EICOSAPENTAENOIC ACID

5,8,11,14,17-Icosapentaenoic acid

all-cis-5,8,11,14,17-eicosapentaenoic acid

C20:1 n-9 cis

C20H30O2

CC\\C=C/C\\C=C/C\\C=C/C\\C=C/C\\C=C/CCCC(O)=O

cis-5,8,11,14,17-eicosapentaenoic acid

cis-Delta(5,8,11,14,17)-eicosapentaenoic acid

Cis-icos-11-enoic

Eicosapentaenoic acid

EPA

EPA; eicosapentaenoic acid

Fatty Acid 20:1 n-9

Gondoic Acid

icosapent

icosapento

icosapentum

InChI=1/C20H30O2/c1-2-3-4-5-6-7-8-9-10-11-12-13-14-15-16-17-18-19-20(21)22/h3-4,6-7,9-10,12-13,15-16H,2,5,8,11,14,17-19H2,1H3,(H,21,22)/b4-3-,7-6-,10-9-,13-12-,16-15-/f/h21H

InChIKey=JAZBEHYOTPTENJ-IQFRBLEYDZ

Timnodonic acid

allergenic agent

http://purl.obolibrary.org/obo/CHEBI_50904

A role played by a chemical compound in the onset of allergic reaction and interacting with molecular pathways involved in allergy.


parents

chemical compound


synonyms

alergeno

allergen

allergene

allergic sensitization measurement

http://www.ebi.ac.uk/efo/EFO_0005298

quantification of allergic sensitization status, for example through measurement of allergen-specific IgE in the blood or skin reaction after puncture of skin through a droplet of allergen extract (skin prick test)


parents

measurement

allergy

http://www.ebi.ac.uk/efo/EFO_0003785

Allergy is any exaggerated immune response to a foreign antigen regardless of mechanism. Thus it includes atopy. Source: Merck Manual

Altered reactivity to an antigen, which can result in pathologic reactions upon subsequent exposure to that particular antigen.

An immune system disease that is an exaggerated immune response to allergens, such as insect venom, dust mites, pollen, pet dander, drugs or some foods.


parents

immune system disease


children

atopic eczema

atopy

contact dermatitis

eye allergy

seasonal allergic rhinitis


synonyms

Allergic Reaction

Allergic Reactions

Allergies

Hypersensitivities

hypersensitivity

hypersensitivity reaction type I disease

Reaction, Allergic

Reactions, Allergic

Allium cepa

http://purl.obolibrary.org/obo/NCBITaxon_4679


parents

Viridiplantae


synonyms

Allium cepa L.

onion

allopurinol

http://purl.obolibrary.org/obo/CHEBI_40279


parents

chemical compound


synonyms

1,5-Dihydro-4H-pyrazolo(3,4-d)pyrimidin-4-one

1,5-Dihydro-4H-pyrazolo(3,4-d)pyrimidine-4-one

1H-Pyrazolo(3,4-d)pyrimidin-4-ol

1H-pyrazolo[3,4-d]pyrimidin-4-ol

4'-Hydroxypyrazolol(3,4-d)pyrimidine

4-HPP

4H-Pyrazolo(3,4-d)pyrimidin-4-one

4-Hydroxy-1H-pyrazolo(3,4-d)pyrimidine

4-Hydroxy-3,4-pyrazolopyrimidine

4-Hydroxypyrazolo(3,4-d)pyrimidine

4-Hydroxypyrazolopyrimidine

4-Hydroxypyrazolyl(3,4-d)pyrimidine

AL-100

Allopurinol

Allopurinolum

Alopurinol

C5H4N4O

Zyloprim (TN)

all pairs

http://www.ebi.ac.uk/efo/EFO_0001763

An all pairs study design type is where all labeled extracts are compared to every other labeled extract.


parents

array specific design


synonyms

all_pairs

http://mged.sourceforge.net/ontologies/MGEDOntology.owl#all_pairs

all-trans-retinoic acid

http://purl.obolibrary.org/obo/CHEBI_15367


parents

retinoic acid


synonyms

(2E,4E,6E,8E)-3,7-dimethyl-9-(2,6,6-trimethylcyclohex-1-en-1-yl)nona-2,4,6,8-tetraenoic acid

(all-E)-3,7-Dimethyl-9-(2,6,6-trimethyl-1-cyclohexen-1-yl)-2,4,6,8-nonatetraenoic acid

3,7-Dimethyl-9-(2,6,6-trimethyl-1-cyclohexene-1-yl)-2,4,6,8-nonatetraenoic acid (ECL)

Acide retinoique (French) (DSL)

AGN 100335

all-(E)-Retinoic acid

all-trans-beta-Retinoic acid

all-trans-Retinoic acid

all-trans-Tretinoin

all-trans-Vitamin A1 acid

all-trans-Vitamin A acid

beta-Retinoic acid

C20H28O2

Renova

Retin-A

Retinoic acid

RETINOIC ACID

Retisol-A

Ro 1-5488

Stieva-A

trans-Retinoic acid

Tretin M

tretinoin

Tretinoine (French) (EINECS)

Vesanoid

Vitamin A acid

allyl alcohol

http://purl.obolibrary.org/obo/CHEBI_16605


parents

chemical compound


synonyms

2-Propen-1-ol

2-Propenol

2-Propenyl alcohol

3-Hydroxypropene

Allyl alcohol

C3H6O

prop-2-en-1-ol

Vinylcarbinol

Vinyl carbinol

Alnus glutinosa

http://purl.obolibrary.org/obo/NCBITaxon_3517


parents

Viridiplantae


synonyms

Alnus gluticosa

Alnus glutinosa (L.) Gaertn.

Alobar holoprosencephaly

http://www.orpha.net/ORDO/Orphanet_93925

Alobar holoprosencephaly is the most severe classical form of holoprosencephaly (HPE; see this term) characterized by a single brain ventricle and no interhemispheric fissure.


parents

Holoprosencephaly

Aloe vera

http://purl.obolibrary.org/obo/NCBITaxon_34199


parents

Viridiplantae


synonyms

acibar

Aloe barbadensi

Aloe barbadensis

aloe-vera

babosa

Barbados aloe

Alopecia

http://www.orpha.net/ORDO/Orphanet_79364


parents

Genetic hair anomaly


children

Alopecia antibody deficiency

Alopecia - epilepsy - pyorrhea - intellectual disability

Alopecia - intellectual disability - hypergonadotropic hypogonadism

Alopecia-intellectual disability syndrome

Alopecia totalis

Alopecia universalis

ANE syndrome

Atrichia with papular lesions

Frontonasal dysplasia with alopecia and genital anomaly

Graham Little-Piccardi-Lassueur syndrome

Hereditary hypotrichosis with recurrent skin vesicles

Hypotrichosis-deafness syndrome

Hypotrichosis simplex

Hypotrichosis simplex of the scalp

Ichthyosis follicularis - alopecia - photophobia

Ichthyosis-hypotrichosis syndrome

Loose anagen syndrome

Marie Unna hereditary hypotrichosis

Noonan syndrome-like disorder with loose anagen hair

Alopecia antibody deficiency

http://www.orpha.net/ORDO/Orphanet_1006


parents

Alopecia

alopecia areata

http://www.ebi.ac.uk/efo/EFO_0004192

A microscopically inflammatory, usually reversible, patchy hair loss occurring in sharply defined areas and usually involving the beard or scalp. (Dorland, 27th ed).


parents

skin disease

Alopecia-contractures-dwarfism-intellectual disability syndrome

http://www.orpha.net/ORDO/Orphanet_1005


parents

Rare genetic intellectual disability with developmental anomaly

Ectodermal dysplasia syndrome

Alopecia - epilepsy - pyorrhea - intellectual disability

http://www.orpha.net/ORDO/Orphanet_1008


parents

Rare genetic intellectual disability with developmental anomaly

Alopecia


synonyms

Alopecia - epilepsy - pyorrhea - mental subnormality

Shokeir syndrome

Alopecia - intellectual disability - hypergonadotropic hypogonadism

http://www.orpha.net/ORDO/Orphanet_1014


parents

Alopecia


synonyms

Devriendt-Vandenberghe-Fryns syndrome

Alopecia-intellectual disability syndrome

http://www.orpha.net/ORDO/Orphanet_2850

Alopecia-intellectual deficit syndrome is an extremely rare syndrome described in less than 20 families to date and characterized by total or partial alopecia associated with intellectual deficit. The syndrome can be associated with other anomalies such as seizures, sensorineural hearing loss, delayed psychomotor development, and/or hypertonia.


parents

Rare genetic intellectual disability with developmental anomaly

Alopecia


synonyms

Perniola-Krajewska-Carnevale syndrome

Alopecia totalis

http://www.orpha.net/ORDO/Orphanet_700

Alopecia totalis is a form of alopecia areata, an inflammatory disease of the hair follicle, characterized by a complete loss of hair of the entire scalp which becomes glabrous.


parents

Alopecia

Alopecia universalis

http://www.orpha.net/ORDO/Orphanet_701

Alopecia universalis is the most severe form of alopecia areata, an inflammatory disease of the hair follicle, which is characterized by a complete loss of hair of the scalp and all the hair-bearing areas of the body.


parents

Alopecia

Alopecurus myosuroides

http://purl.obolibrary.org/obo/NCBITaxon_81473


parents

Viridiplantae


synonyms

Alopecurus agrestis

Alpers syndrome

http://www.orpha.net/ORDO/Orphanet_726


parents

Genetic neurodegenerative disease

Mitochondrial disease with peripheral neuropathy

Mitochondrial DNA depletion syndrome

Neurometabolic disease


synonyms

Alpers-Huttenlocher syndrome

Alpers progressive sclerosing poliodystrophy

Progressive neuronal degeneration of childhood with liver disease

Alpha-1-antichymotrypsin deficiency

http://www.orpha.net/ORDO/Orphanet_93594


parents

Rare metabolic liver disease

Rare genetic respiratory disease

Other metabolic disease

Alpha-1-antitrypsin deficiency

http://www.orpha.net/ORDO/Orphanet_60


parents

Rare metabolic liver disease

Rare genetic respiratory disease

Other metabolic disease

Nephropathy secondary to a storage or other metabolic disease

alpha-adrenergic agonist

http://purl.obolibrary.org/obo/CHEBI_35569


parents

drug

alpha-adrenergic antagonist

http://purl.obolibrary.org/obo/CHEBI_37890

An agent that binds to but does not activate alpha-adrenergic receptors thereby blocking the actions of endogenous or exogenous alpha-adrenergic agonists. alpha-Adrenergic antagonists are used in the treatment of hypertension, vasospasm, peripheral vascular disease, shock, and pheochromocytoma.


parents

drug role


synonyms

alpha-adrenergic antagonists

alpha-adrenergic blocker

alpha-adrenergic blockers

alpha-adrenergic receptor blockaders

alpha-adrenoceptor antagonists

alpha-amanitin

http://purl.obolibrary.org/obo/CHEBI_37415

A heterodetic cyclic peptide that has formula C39H54N10O14S.


parents

chemical compound


synonyms

[H][C@]12Cc3c([nH]c4cc(O)ccc34)[S@](=O)C[C@]([H])(NC(=O)CNC(=O)[C@@]([H])(NC(=O)CNC1=O)[C@@H](C)CC)C(=O)N[C@@H](CC(N)=O)C(=O)N1C[C@H](O)C[C@@]1([H])C(=O)N[C@@]([H])([C@@H](C)[C@@H](O)CO)C(=O)N2

1,8-anhydro-S(1),C(2.5)-cyclo[L-cysteinyl-L-asparaginyl-trans-4-hydroxy-L-prolyl-(R)-4,5-dihydroxy-L-isoleucyl-6-hydroxy-L-tryptophylglycyl-L-isoleucylglycine] (R)-S(1)-oxide

alpha-amanitine

alpha-Amatoxin

C39H54N10O14S

InChI=1/C39H54N10O14S/c1-4-16(2)31-36(60)42-11-29(55)43-25-15-64(63)38-21(20-6-5-18(51)7-22(20)46-38)9-23(33(57)41-12-30(56)47-31)44-37(61)32(17(3)27(53)14-50)48-35(59)26-8-19(52)13-49(26)39(62)24(10-28(40)54)45-34(25)58/h5-7,16-17,19,23-27,31-32,46,50-53H,4,8-15H2,1-3H3,(H2,40,54)(H,41,57)(H,42,60)(H,43,55)(H,44,61)(H,45,58)(H,47,56)(H,48,59)/t16-,17-,19+,23-,24-,25-,26-,27-,31-,32-,64+/m0/s1/f/h41-45,47-48H,40H2

InChIKey=CIORWBWIBBPXCG-MKELGLIBDL

Alpha-B crystallin-related late-onset distal myopathy

http://www.orpha.net/ORDO/Orphanet_399058


parents

Autosomal dominant distal myopathy

Alpha-crystallinopathy


synonyms

Late-onset distal crystallinopathy

alpha-beta intraepithelial T cell

http://purl.obolibrary.org/obo/CL_0000797


parents

mature alpha-beta T cell


children

CD4-negative, CD8-negative, alpha-beta intraepithelial T cell

CD8-alpha-alpha-positive, alpha-beta intraepithelial T cell

CD8-alpha-beta-positive, alpha-beta intraepithelial T cell

alpha-beta T cell

http://purl.obolibrary.org/obo/CL_0000789


parents

T cell


children

immature alpha-beta T cell

mature alpha-beta T cell

alpha cell

http://purl.obolibrary.org/obo/CL_0000171

A type of enteocrine cell found in the periphery of the islets of Langerhans that secretes glucagon.


parents

pancreatic cell


synonyms

pancreatic A cell

pancreatic alpha cell

Alpha-crystallinopathy

http://www.orpha.net/ORDO/Orphanet_98910


parents

Qualitative or quantitative defects of alphaB-cristallin

Myofibrillar myopathy


children

Alpha-B crystallin-related late-onset distal myopathy

Fatal infantile hypertonic myofibrillar myopathy


synonyms

CRYAB-related myofobrillar myopathy

Alpha delta granule deficiency

http://www.orpha.net/ORDO/Orphanet_734


parents

Platelet storage pool disease


synonyms

Alpha dense granule deficiency

alpha-D-glucose

http://purl.obolibrary.org/obo/CHEBI_17925

A D-glucopyranose that has formula C6H12O6.


parents

chemical compound


synonyms

alpha-dextrose

alpha-D-glucopyranose

C6H12O6

InChI=1/C6H12O6/c7-1-2-3(8)4(9)5(10)6(11)12-2/h2-11H,1H2/t2-,3-,4+,5-,6+/m1/s1

InChIKey=WQZGKKKJIJFFOK-DVKNGEFBBQ

OC[C@H]1O[C@H](O)[C@H](O)[C@@H](O)[C@@H]1O

alpha globulin measurement

http://www.ebi.ac.uk/efo/EFO_0004813

Is a quantification of any of the alpha globulin class of proteins, typically in serum.


parents

protein measurement

Alpha granule disease

http://www.orpha.net/ORDO/Orphanet_98455


parents

Platelet storage pool disease


children

Gray platelet syndrome

Medich giant platelet syndrome

Quebec platelet disorder

White platelet syndrome

alpha macroglobulin measurement

http://www.ebi.ac.uk/efo/EFO_0004815

Is a quantification of alphamacroglobulins 1 and/or 2, glycoproteins with a molecular weight of approximately 620,000 to 680,000. Precipitation by electrophoresis is in the alpha region. They include alpha 1-macroglobulins and alpha 2-macroglobulins. These proteins exhibit trypsin-, chymotrypsin-, thrombin-, and plasmin-binding activity and function as hormonal transporters. Chronic kidney disease can result in the leakage of alphamacroglobulins into the blood.


parents

renal system measurement

Alpha-mannosidosis

http://www.orpha.net/ORDO/Orphanet_61


parents

Lysosomal disease with hypertrophic cardiomyopathy

Neurometabolic disease

Oligosaccharidosis

Lysosomal storage disease with skeletal involvement

Cataract associated with a metabolic disease

Metabolic disease with corneal opacity

Metabolic disease with cataract


children

Alpha-mannosidosis, adult form

Alpha-mannosidosis, infantile form


synonyms

Lysosomal alpha-D-mannosidase deficiency

Alpha-mannosidosis, adult form

http://www.orpha.net/ORDO/Orphanet_309288


parents

Alpha-mannosidosis


synonyms

Lysosomal alpha-D-mannosidase deficiency, adult form

Alpha-mannosidosis, infantile form

http://www.orpha.net/ORDO/Orphanet_309282


parents

Alpha-mannosidosis


synonyms

Lysosomal alpha-D-mannosidase deficiency, infantile form

alpha-methyl-L-dopa

http://purl.obolibrary.org/obo/CHEBI_61058


parents

chemical compound


synonyms

(S)-(-)-alpha-Methyldopa

3-hydroxy-alpha-methyl-L-tyrosine

3-Hydroxy-alpha-methyl-L-tyrosine

Alpha medopa

alpha-Methyl-beta-(3,4-dihydroxyphenyl)-L-alanine

alpha-Methyldihydroxyphenylalanine

Alphamethyldopa

alpha-Methyldopa

alpha-Methyl dopa

alpha-Methyl-L-3,4-dihydroxyphenylalanine

AMD

C10H13NO4

L-(-)-3-(3,4-Dihydroxyphenyl)-2-methylalanine

L-(-)-alpha-Methyl-beta-(3,4-dihydroxyphenyl)alanine

L(-)-beta-(3,4-Dihydroxyphenyl)-alpha-methylalanine

L-(alpha-Md)

L-2-Amino-2-methyl-3-(3,4-dihydroxyphenyl)propionic acid

l-3-(3,4-Dihydroxyphenyl)-2-methylalanine

L-alpha-Methyl-3,4-dihydroxyphenylalanine

L-alpha-Methyldopa

levo-3-(3,4-Dihydroxyphenyl)-2-methylalanine

L-Methyl Dopa

methyldopa

Methyldopa anhydrous

methyldopum

Methyl-L-dopa

metildopa

alpha-methyl-L-tyrosine

http://purl.obolibrary.org/obo/CHEBI_6912


parents

chemical compound


synonyms

(-)-alpha-Methyl-L-tyrosine

(S)-alpha-Methyltyrosine

alpha-methyl-L-p-tyrosine

alpha-methyl-L-tyrosine

alpha-methyl-para-tyrosine

alpha-methyl-p-tyrosine

alpha-Methyltyrosine

C10H13NO3

L-alpha-Methyltyrosine

Methyltyrosine

metirosina

metirosine

metirosinum

Metyrosine

Alpha-N-acetylgalactosaminidase deficiency

http://www.orpha.net/ORDO/Orphanet_3137

Alpha-N-acetylgalactosaminidase (NAGA) deficiency is a very rare lysosomal storage disease that is clinically and pathologically heterogeneous and is characterized by deficient NAGA activity.


parents

Neurometabolic disease

Oligosaccharidosis


children

Alpha-N-acetylgalactosaminidase deficiency type 1

Alpha-N-acetylgalactosaminidase deficiency type 2

Alpha-N-acetylgalactosaminidase deficiency type 3


synonyms

NAGA deficiency

Schindler disease

Alpha-N-acetylgalactosaminidase deficiency type 1

http://www.orpha.net/ORDO/Orphanet_79279

Alpha-N-acetylgalactosaminidase (NAGA) deficiency type 1 is a very rare and severe type of NAGA deficiency (see this term) characterized by infantile neuroaxonal dystrophy.


parents

Alpha-N-acetylgalactosaminidase deficiency


synonyms

NAGA deficiency type 1

Schindler disease type 1

Alpha-N-acetylgalactosaminidase deficiency type 2

http://www.orpha.net/ORDO/Orphanet_79280

Alpha-N-acetylgalactosaminidase (NAGA) deficiency type 2 is a very rare mild adult type of NAGA deficiency (see this term) with the features of angiokeratoma corporis diffusum (see this term) and mild sensory neuropathy.


parents

Alpha-N-acetylgalactosaminidase deficiency


synonyms

Adult-onset Alpha-N-acetylgalactosaminidase deficiency

Kanzaki disease

NAGA deficiency type 2

Schindler disease type 2

Alpha-N-acetylgalactosaminidase deficiency type 3

http://www.orpha.net/ORDO/Orphanet_79281

Alpha-N-acetylgalactosaminidase (NAGA) deficiency type 3 is a rare clinically heterogeneous type of NAGA deficiency (see this term) with developmental, neurologic and psychiatric manifestations presenting at an intermediate age.


parents

Alpha-N-acetylgalactosaminidase deficiency


synonyms

NAGA deficiency type 3

Schindler disease type 3

Alpha-thalassemia

http://www.orpha.net/ORDO/Orphanet_846

Alpha-thalassemia is an inherited hemoglobinopathy characterized by impaired synthesis of alpha-globin chains leading to a variable clinical picture depending on the number of affected alleles.


parents

Alpha-thalassemia and related diseases

Hematological disorder with renal involvement


children

Hb Bart's hydrops fetalis

Hemoglobin H disease

Alpha-thalassemia and related diseases

http://www.orpha.net/ORDO/Orphanet_275745


parents

Hemoglobinopathy


children

Alpha-thalassemia

Alpha-thalassemia-related diseases

Alpha-thalassemia - intellectual disability syndrome linked to chromosome 16

http://www.orpha.net/ORDO/Orphanet_98791

Alpha-thalassemia-intellectual deficit syndrome linked to chromosome 16 (ATR-16), a contiguous gene deletion syndrome, is a form of alpha-thalassemia (see this term) characterized by microcytosis, hypochromia, normal hemoglobin (Hb) level or mild anemia, associated with developmental abnormalities.


parents

Rare genetic intellectual disability with developmental anomaly

Alpha-thalassemia-related diseases

Partial deletion of the short arm of chromosome 16


synonyms

Alpha thalassemia - intellectual disability syndrome, deletion type

Alpha thalassemia - retardation syndrome

ATR-16 syndrome

ATR syndrome, deletion type

ATR syndrome linked to chromosome 16

Alpha-thalassemia - myelodysplastic syndrome

http://www.orpha.net/ORDO/Orphanet_231401

Alpha-thalassemia-myelodysplastic syndrome (ATMDS) is an acquired form of alpha-thalassemia (see this term) characterized by a myelodysplastic syndrome (MDS) or more rarely a myeloproliferative disease (MPD) associated with hemoglobin H disease (HbH; see these terms).


parents

Alpha-thalassemia-related diseases


synonyms

Acquired HbH disease

Acquired hemoglobin H disease

ATMDS

Alpha-thalassemia-related diseases

http://www.orpha.net/ORDO/Orphanet_232288

This term refers to a group of diseases characterized by alpha-thalassemia and an associated disorder. Three conditions are included in this group: alpha thalassemia - X-linked intellectual deficit (or ATR-X syndrome), alpha-thalassemia-intellectual deficit syndrome (or ATR-16 syndrome) and alpha-thalassemia-myelodysplastic disease (or ATMDS; see these terms).*


parents

Alpha-thalassemia and related diseases


children

Alpha-thalassemia - intellectual disability syndrome linked to chromosome 16

Alpha-thalassemia - myelodysplastic syndrome

Alpha-thalassemia - X-linked intellectual disability syndrome

Alpha-thalassemia - X-linked intellectual disability syndrome

http://www.orpha.net/ORDO/Orphanet_847


parents

Alpha-thalassemia-related diseases

ATR-X-related syndrome

Syndrome with disorder of sex development of gynecological interest

Syndrome with 46,XY disorder of sex development


synonyms

ATR-X syndrome

alpha-tocopherol

http://purl.obolibrary.org/obo/CHEBI_22470


parents

chemical compound


synonyms

2,5,7,8-tetramethyl-2-(4',8',12'-trimethyltridecyl)-6-chromanol

C29H50O2

dl-alpha-tocopherol

rel-(2R)-2,5,7,8-tetramethyl-2-[(4R,8R)-4,8,12-trimethyltridecyl]-3,4-dihydro-2H-chromen-6-ol

vitamin E

Alport syndrome

http://www.orpha.net/ORDO/Orphanet_63


parents

Syndromic genetic deafness

Basement membrane disease

Renal disease with cataract

Lens shape anomaly


children

Autosomal dominant Alport syndrome

Autosomal recessive Alport syndrome

X-linked Alport syndrome


synonyms

Alport deafness-nephropathy

Alport syndrome - intellectual disability - midface hypoplasia - elliptocytosis

http://www.orpha.net/ORDO/Orphanet_86818


parents

Multiple congenital anomalies/dysmorphic syndrome-intellectual disability

Rare constitutional hemolytic anemia

Partial deletion of the long arm of chromosome X

X-linked syndromic intellectual disability


synonyms

AMME complex

AMME syndrome

ATS-MR

Alström syndrome

http://www.orpha.net/ORDO/Orphanet_64

Alström syndrome (AS) is a multisystemic disorder characterized by cone-rod dystrophy, hearing loss, obesity, insulin resistance and hyperinsulinemia, type 2 diabetes mellitus, dilated cardiomyopathy (DCM; see this term), and progressive hepatic and renal dysfunction.


parents

ciliopathy

Rare genetic diabetes mellitus

Syndrome associated with dilated cardiomyopathy

Syndromic obesity

Syndromic genetic deafness

Syndromic retinitis pigmentosa

Alternaria alternata

http://purl.obolibrary.org/obo/NCBITaxon_5599


parents

Ascomycota

Alternating hemiplegia

http://www.orpha.net/ORDO/Orphanet_209978


parents

Rare genetic neurological disorder


children

Alternating hemiplegia of childhood

Benign familial nocturnal alternating hemiplegia of childhood

Alternating hemiplegia of childhood

http://www.orpha.net/ORDO/Orphanet_2131

Alternating hemiplegia of childhood (AHC) is a rare neurodevelopmental disorder characterized by recurrent episodes of hemiplegia and paroxysmal disturbances associated with persistent developmental delay and cognitive impairment.


parents

Alternating hemiplegia


synonyms

AHC

Alternating hemiplegia in childhood

alternatively activated macrophage

http://purl.obolibrary.org/obo/CL_0000890


parents

elicited macrophage

aluminium

http://purl.obolibrary.org/obo/CHEBI_28984

A boron group element atom that has formula Al.

A boron group element that has formula Al.


parents

element


synonyms

[Al]

13Al

aluminio

aluminium atom

aluminum

InChI=1/Al

InChIKey=XAGFODPZIPBFFR-UHFFFAOYAX

aluminium hydroxide

http://purl.obolibrary.org/obo/CHEBI_33130

A member of the aluminium hydroxides that has formula H3AlO3.


parents

chemical compound


synonyms

[H]O[Al](O[H])O[H]

Al(OH)3

AlH3O3

aluminium(3+) hydroxide

aluminium(III) hydroxide

Aluminiumhydroxid

Aluminum hydroxide

H3AlO3

InChI=1/Al.3H2O/h;3*1H2/q+3;;;/p-3/fAl.3HO/h;3*1h/qm;3*-1

InChIKey=WNROFYMDJYEPJX-BLLOLPNJCE

trihydroxidoaluminium

aluminium trichloride

http://purl.obolibrary.org/obo/CHEBI_30114

An aluminium coordination entity that has formula AlCl3.


parents

ionic salt


synonyms

[AlCl3]

aluminium(3+) chloride

aluminium(III) chloride

Aluminum chloride anhydrous

Aluminum trichloride

Cl[Al](Cl)Cl

InChI=1/Al.3ClH/h;3*1H/q+3;;;/p-3/fAl.3Cl/h;3*1h/qm;3*-1

InChIKey=VSCWAEJMTAWNJL-GZMOREBICG

trichloridoaluminium

trichloroalumane

alveolar bone

http://purl.obolibrary.org/obo/BTO_0001383

The thin layer of bone making up the bony processes of the maxilla and mandible, and surrounding and containing the teeth; it is pierced by many small openings through which blood vessels, lymphatics, and nerve fibers pass.


parents

animal component

alveolar macrophage

http://purl.obolibrary.org/obo/CL_0000583


parents

tissue-resident macrophage

alveolar rhabdomyosarcoma

http://www.ebi.ac.uk/efo/EFO_0000248

Alveolar

A rapidly growing malignant mesenchymal neoplasm. It is characterized by the presence of round cells with myoblastic differentiation and a fibrovascular stroma resembling an alveolar growth pattern. The tumor usually presents in the extremities.


parents

sarcoma


synonyms

Alveolar rhabdomyosarcoma (disorder)

Alveolar rhabdomyosarcoma (morphologic abnormality)

Alveolar Rhabdomyosarcomas

ARMS

aveolar rhabdomyosarcoma

Rhabdomyosarcoma, Alveolar

Rhabdomyosarcomas, Alveolar

alveolus

http://purl.obolibrary.org/obo/UBERON_0003215

organ part that has the form of a hollow cavity[WP].


parents

animal component

anatomical modifier

Alymphoid cystic thymic dysgenesis

http://www.orpha.net/ORDO/Orphanet_169095


parents

Combined T and B cell immunodeficiency


synonyms

Severe T-cell immunodeficiency - congenital alopecia - nail dystrophy

Winged helix deficiency

Alzheimer's disease

http://www.ebi.ac.uk/efo/EFO_0000249

A degenerative disease of the BRAIN characterized by the insidious onset of DEMENTIA. Impairment of MEMORY, judgment, attention span, and problem solving skills are followed by severe APRAXIAS and a global loss of cognitive abilities. The condition primarily occurs after age 60, and is marked pathologically by severe cortical atrophy and the triad of SENILE PLAQUES; NEUROFIBRILLARY TANGLES; and NEUROPIL THREADS. (From Adams et al., Principles of Neurology, 6th ed, pp1049-57)

A dementia that results in progressive memory loss, impaired thinking, disorientation, and changes in personality and mood starting in late middle age and leads in advanced cases to a profound decline in cognitive and physical functioning and is marked histologically by the degeneration of brain neurons especially in the cerebral cortex and by the presence of neurofibrillary tangles and plaques containing beta-amyloid. It is characterized by memory lapses, confusion, emotional instability and progressive loss of mental ability.

A dementia which is an incurable disease of unknown cause, starting in late middle age or in old age, that results in progressive memory loss, impaired thinking, disorientation, and changes in personality and mood, that leads in advanced cases to a profound decline in cognitive and physical functioning, and that is marked histologically by the degeneration of brain neurons especially in the cerebral cortex and by the presence of neurofibrillary tangles and plaques containing beta-amyloid.

A progressive, neurodegenerative disease characterized by loss of function and death of nerve cells in several areas of the brain leading to loss of cognitive function such as memory and language.


parents

tauopathy


synonyms

[X]Dementia in Alzheimer's disease

[X]Dementia in Alzheimer's disease (disorder)

Acute Confusional Senile Dementia

AD

AD - Alzheimer's disease

Alzheimer's

Alzheimer's Dementia

Alzheimer's Disease, Focal Onset

Alzheimer's disease, NOS

Alzheimer's disease (disorder)

Alzheimer's disease (late onset)

Alzheimer's Disease Pathway

Alzheimer's Disease Pathway KEGG

Alzheimer Dementia

Alzheimer Dementia, Presenile

ALZHEIMER DIS

ALZHEIMER DIS EARLY ONSET

Alzheimer Disease

Alzheimer Disease, Early Onset

Alzheimer Disease, Late Onset

ALZHEIMER DIS LATE ONSET

Alzheimers

Alzheimers Dementia

ALZHEIMERS DIS

Alzheimers disease

ALZHEIMERS DIS FOCAL ONSET

Alzheimer Senile Dementia

Alzheimer Type Dementia

Alzheimer Type Senile Dementia

DAT - Dementia Alzheimer's type

Dementia, Alzheimer Type

Dementia, Presenile

Dementia, Presenile Alzheimer

Dementia, Primary Senile Degenerative

Dementia, Senile

Dementia in Alzheimer's disease

Dementia in Alzheimer's disease, unspecified (disorder)

Dementia in Alzheimer's disease (disorder)

Dementia of the Alzheimer's type

Dementias, Presenile

Dementias, Senile

Disease, Alzheimer

Disease, Alzheimer's

Early Onset Alzheimer Disease

Focal Onset Alzheimer's Disease

LATE ONSET ALZHEIMER DIS

Late Onset Alzheimer Disease

Presenile Alzheimer Dementia

Presenile Dementia

Presenile Dementias

Primary Senile Degenerative Dementia

Senile Dementia

Senile Dementia, Acute Confusional

Senile Dementia, Alzheimer Type

Senile Dementias

Amapari virus

http://purl.obolibrary.org/obo/NCBITaxon_45218


parents

Virus


synonyms

Amapari arenavirus

AMAV

Amaurosis - hypertrichosis

http://www.orpha.net/ORDO/Orphanet_1021


parents

Retinal dystrophy

Amblyomma americanum

http://purl.obolibrary.org/obo/NCBITaxon_6943


parents

Eukaryota


synonyms

Haemalastor americanus

lone star tick

Amborella trichopoda

http://purl.obolibrary.org/obo/NCBITaxon_13333


parents

Viridiplantae


synonyms

Amborella trichopoda Baill.

Ambystoma mexicanum

http://purl.obolibrary.org/obo/NCBITaxon_8296


parents

Eukaryota


synonyms

Ambystoma mexicanum (Shaw & Nodder, 1798)

axolotl

amelanotic skin melanoma

http://www.ebi.ac.uk/efo/EFO_0002894


parents

melanoma


synonyms

Amelanotic Malignant Melanoma (of Skin)

Amelanotic Malignant Melanoma of Skin

Amelanotic Malignant Melanoma of the Skin

Amelanotic Malignant Skin Melanoma

Amelanotic Melanoma of Skin

Amelanotic Melanoma of the Skin

Amelia

http://www.orpha.net/ORDO/Orphanet_294925


parents

Non-syndromic limb reduction defect


children

Amelia of lower limb

Amelia of upper limb

Tetra-amelia

Amelia of lower limb

http://www.orpha.net/ORDO/Orphanet_294969


parents

Amelia


children

Amelia of lower limb, bilateral

Amelia of lower limb, unilateral

Amelia of lower limb, bilateral

http://www.orpha.net/ORDO/Orphanet_295059


parents

Amelia of lower limb

Amelia of lower limb, unilateral

http://www.orpha.net/ORDO/Orphanet_295057


parents

Amelia of lower limb

Amelia of upper limb

http://www.orpha.net/ORDO/Orphanet_294967


parents

Amelia


children

Amelia of upper limb, bilateral

Amelia of upper limb, unilateral

Amelia of upper limb, bilateral

http://www.orpha.net/ORDO/Orphanet_295055


parents

Amelia of upper limb

Amelia of upper limb, unilateral

http://www.orpha.net/ORDO/Orphanet_295053


parents

Amelia of upper limb

Amelo-cerebro-hypohidrotic syndrome

http://www.orpha.net/ORDO/Orphanet_1946


parents

Genetic malformation syndrome with odontal and/or periodontal component

Ectodermal dysplasia syndrome


synonyms

Epilepsy - dementia - amelogenesis imperfecta

Kohlschutter-Tonz syndrome

Amelogenesis imperfecta

http://www.orpha.net/ORDO/Orphanet_88661


parents

Rare odontal or periodontal disorder


children

Hypocalcified amelogenesis imperfecta

Hypomaturation amelogenesis imperfecta

Hypomaturation-hypoplastic amelogenesis imperfecta with taurodontism

Hypoplastic amelogenesis imperfecta

Amelogenesis imperfecta and gingival hyperplasia syndrome

http://www.orpha.net/ORDO/Orphanet_171836

This syndrome associates gingival fibromatosis with dental abnormalities including generalized thin hypoplastic amelogenesis imperfecta, intrapulpal calcifications, and delay of tooth eruption.


parents

Rare odontal or periodontal disorder

Amelogenesis imperfecta - nephrocalcinosis

http://www.orpha.net/ORDO/Orphanet_1031

Amelogenesis imperfecta-nephrocalcinosis, also called enamel-renal syndrome, is an extremely rare syndrome which is characterized by hypoplastic amelogenesis imperfecta (hypoplastic dental enamel) and nephrocalcinosis (precipitation of calcium salts in renal tissue). Oral manifestations include yellow and misshaped teeth, delayed tooth eruption, and intrapulpal calcifications. Nephrocalcinosis is often asymptomatic but can progress during late childhood or early adulthood to impaired renal function (e.g. recurrent urinary infections and renal tubular acidosis), and rarely to end-stage renal failure.


parents

Genetic malformation syndrome with odontal and/or periodontal component

Nephropathy secondary to a storage or other metabolic disease

Amelo-onycho-hypohidrotic syndrome

http://www.orpha.net/ORDO/Orphanet_1028


parents

Ectodermal dysplasia syndrome

American

http://www.ebi.ac.uk/efo/EFO_0003151


parents

ethnic group

amide

http://www.ebi.ac.uk/efo/EFO_0004417


parents

chemical compound


children

1,1'-azobis(N,N-dimethylformamide)

4,5-dianilinophthalimide

4-hydroxyphenyl retinamide

acrylamide

bicalutamide

chlorpropamide

cyclophosphamide

D-penicillamine

glucosamine

mesalamine

methamphetamine

naphthalene-1,5-diamine

N-methylformamide

N-nitrosodimethylamine

N-octylhomovanillamide

pentamidine

polyamide

scopolamine

tetraethylenepentamine

amikacin

http://purl.obolibrary.org/obo/CHEBI_2637

An alpha-D-glucoside that has formula C22H43N5O13.


parents

chemical compound


synonyms

(2S)-4-amino-N-[(1R,2S,3S,4R,5S)-5-amino-2-(3-amino-3-deoxy-alpha-D-glucopyranosyloxy)-4-(6-amino-6-deoxy-alpha-D-glucopyranosyloxy)-3-hydroxycyclohexyl]-2-hydroxybutanamide

1-N-(L(-)-gamma-amino-alpha-hydroxybutyryl)kanamycin A

amikacina

amikacine

amikacinum

C22H43N5O13

InChI=1/C22H43N5O13/c23-2-1-8(29)20(36)27-7-3-6(25)18(39-22-16(34)15(33)13(31)9(4-24)37-22)17(35)19(7)40-21-14(32)11(26)12(30)10(5-28)38-21/h6-19,21-22,28-35H,1-5,23-26H2,(H,27,36)/t6-,7+,8-,9+,10+,11-,12+,13+,14+,15-,16+,17-,18+,19-,21+,22+/m0/s1/f/h27H

InChIKey=LKCWBDHBTVXHDL-VLZSSAFWDT

NCC[C@H](O)C(=O)N[C@@H]1C[C@H](N)[C@@H](O[C@H]2O[C@H](CN)[C@@H](O)[C@H](O)[C@H]2O)[C@H](O)[C@H]1O[C@H]1O[C@H](CO)[C@@H](O)[C@H](N)[C@H]1O

O-3-amino-3-deoxy-alpha-D-glucopyranosyl-(1->4)-O-(6-amino-6-deoxy-alpha-D-glucopyranosyl-(1->6))-N(3)-(4-amino-L-2-hydroxybutyryl)-2-deoxy-L-streptamine

amino acid

http://purl.obolibrary.org/obo/CHEBI_33709


parents

acid


children

alanine

glutamine

homocysteine

L-cysteine

lysine

methionine

phenylalanine

S-adenosyl-L-methionine

tyrosine


synonyms

amino acids

Aminocarbonsaeure

Aminokarbonsaeure

Aminosaeure

amino acid measurement

http://www.ebi.ac.uk/efo/EFO_0005134

quantification of some amino acid in a biological assay


parents

measurement

Aminoacylase deficiency

http://www.orpha.net/ORDO/Orphanet_308448


parents

Cerebral organic aciduria


children

Canavan disease

Neurological conditions associated with aminoacylase 1 deficiency

aminosilane substrate coating

http://www.ebi.ac.uk/efo/EFO_0005070

An array substrate coating formed using aminosilane.


parents

array surface coating

amiodarone

http://purl.obolibrary.org/obo/CHEBI_2663


parents

chemical compound


synonyms

(2-butyl-1-benzofuran-3-yl){4-[2-(diethylamino)ethoxy]-3,5-diiodophenyl}methanone

2-Butyl-3-(3,5-diiodo-4-(2-diethylaminoethoxy)benzoyl)benzofuran

2-Butyl-3-benzofuranyl 4-(2-(diethylamino)ethoxy)-3,5-diiodophenyl ketone

2-n-Butyl-3',5'-diiodo-4'-N-diethylaminoethoxy-3-benzoylbenzofuran

Amiodarone

C25H29I2NO3

Amish infantile epilepsy syndrome

http://www.orpha.net/ORDO/Orphanet_171714


parents

ST3GAL5-CDG


synonyms

Infantile-onset symptomatic epilepsy syndrome - developmental stagnation - blindness

Amish lethal microcephaly

http://www.orpha.net/ORDO/Orphanet_99742

Amish lethal microcephaly is a very rare syndrome characterized by extreme microcephaly and early death, within the first year.


parents

Syndrome with microcephaly as major feature

Amish nemaline myopathy

http://www.orpha.net/ORDO/Orphanet_98902

Amish nemaline myopathy is a type of nemaline myopathy (NM; see this term) only observed in several families of the Amish community.


parents

Qualitative or quantitative defects of troponin

Nemaline myopathy

amisulpride

http://purl.obolibrary.org/obo/CHEBI_64045


parents

drug


synonyms

4-Amino-N-((1-ethyl-2-pyrrolidinyl)methyl)-5-(ethylsulfonyl)-2-methoxybenzamide

4-Amino-N-((1-ethyl-2-pyrrolidinyl)methyl)-5-(ethylsulfonyl)-o-anisamide

4-amino-N-[(1-ethylpyrrolidin-2-yl)methyl]-5-(ethylsulfonyl)-2-methoxybenzamide

Aminosultopride

amisulprida

amisulpride

amisulpridum

C17H27N3O4S

amitriptyline

http://purl.obolibrary.org/obo/CHEBI_2666

A tricyclic antidepressant that has formula C20H23N.


parents

drug


synonyms

10,11-dihydro-5-(gamma-dimethylaminopropylidene)-5H-dibenzo(a,d)cycloheptene

10,11-dihydro-N,N-dimethyl-5H-dibenzo(a,d)heptalene-Delta(5),gamma-propylamine

3-(10,11-dihydro-5H-dibenzo(a,d)cyclohepten-5-ylidene)-N,N-dimethyl-1-propanamine

3-(10,11-dihydro-5H-dibenzo[a,d][7]annulen-5-ylidene)-N,N-dimethylpropan-1-amine

3-(10,11-dihydro-5H-dibenzo[a,d]cyclohepten-5-ylidene)-N,N-dimethylpropan-1-amine

5-(3-dimethylaminopropylidene)-10,11-dihydro-5H-dibenzo(a,d)cycloheptatriene

5-(3-dimethylaminopropylidene)-10,11-dihydro-5H-dibenzo(a,d)cycloheptene

5-(gamma-dimethylaminopropylidene)-5H-dibenzo[a,d][1,4]cycloheptadiene

Amitriptylin

C20H23N

CN(C)CCC=C1c2ccccc2CCc2ccccc12

InChI=1/C20H23N/c1-21(2)15-7-12-20-18-10-5-3-8-16(18)13-14-17-9-4-6-11-19(17)20/h3-6,8-12H,7,13-15H2,1-2H3

InChIKey=KRMDCWKBEZIMAB-UHFFFAOYAI

ammonium

http://purl.obolibrary.org/obo/CHEBI_28938


parents

chemical compound


synonyms

[NH4](+)

ammonium

Ammonium(1+)

AMMONIUM ION

azanium

H4N

NH4(+)

NH4+

ammonium nitrate

http://purl.obolibrary.org/obo/CHEBI_63038

"The ammonium salt of nitric acid." []


parents

ionic salt


synonyms

Ammonium(I) nitrate (1:1)

Ammonium(I) nitrate (1:1)

Ammonium nitricum

Ammonium nitricum

Ammonium saltpeter

Ammonium saltpeter

Nitrate d'ammonium

Nitrate d'ammonium

Nitrate of ammonia

Nitrate of ammonia

Nitrato amonico

Nitrato amonico

Nitric acid, ammonium salt

Nitric acid, ammonium salt

Nitric acid ammonium salt (1:1)

Nitric acid ammonium salt (1:1)

Norway saltpeter

Norway saltpeter

ammonium phosphate

http://purl.obolibrary.org/obo/CHEBI_62982

"The ammonium salt of phosphoric acid (molar ratio 1:1)." []


parents

ionic salt


synonyms

Ammonium acid phosphate

Ammonium acid phosphate

Ammonium biphosphate

Ammonium biphosphate

Ammonium diacid phosphate

Ammonium diacid phosphate

Ammonium dihydrogen orthophosphate

Ammonium dihydrogen orthophosphate

ammonium dihydrogen phosphate

Ammonium dihydrophosphate

Ammonium dihydrophosphate

Ammonium monobasic phosphate

Ammonium monobasic phosphate

Ammonium monophosphate

Ammonium monophosphate

Ammonium orthophosphate dihydrogen

Ammonium orthophosphate dihydrogen

Dihydrogen ammonium phosphate

Dihydrogen ammonium phosphate

Monoammonium acid phosphate

Monoammonium acid phosphate

Monoammonium dihydrogen orthophosphate

Monoammonium dihydrogen orthophosphate

Monoammonium dihydrogen phosphate

Monoammonium dihydrogen phosphate

Monoammonium hydrogen phosphate

Monoammonium hydrogen phosphate

Monoammonium orthophosphate

Monoammonium orthophosphate

monoammonium phosphate

monoammonium phosphate

Monoammonium phosphate

Monoammonium phosphate

Monobasic ammonium phosphate

Monobasic ammonium phosphate

Phosphoric acid, monoammonium salt

Phosphoric acid, monoammonium salt

Primary ammonium phosphate

Primary ammonium phosphate

ammonium sulfate

http://purl.obolibrary.org/obo/CHEBI_62946

"An inorganic sulfate salt obtained by reaction of sulfuric acid with two equivalents of ammonia. A high-melting (decomposes above 280degreeC) white solid which is very soluble in water (70.6 g/100 g water at 0degreeC; 103.8 g/100 g water at 100degreeC), it is widely used as a fertilizer for alkaline soils." []


parents

ionic salt


synonyms

(NH4)2SO4

(NH4)2SO4

ammonium sulfate (2:1)

ammonium sulfate (2:1)

ammonium sulphate

ammonium sulphate

diammonium sulfate

diammonium sulfate

mascagnite

mascagnite

sulfuric acid, diammonium salt

sulfuric acid, diammonium salt

sulfuric acid ammonium salt (1:2)

sulfuric acid ammonium salt (1:2)

amnioserosa

http://purl.obolibrary.org/obo/UBERON_0010302

a single extraembryonic epithelium, which closes the germband dorsally.


parents

animal component


synonyms

amnion-serosa

amnioserosa anlage in statu nascendi

http://www.ebi.ac.uk/efo/EFO_0000251


parents

embryonic structure


synonyms

A0amnioser

amnioserosa primordium

http://www.ebi.ac.uk/efo/EFO_0003363

.


parents

Drosophila developmental tissue

Amniotic bands

http://www.orpha.net/ORDO/Orphanet_1034


parents

Terminal limb defects


children

Constriction rings syndrome

Terminal transverse defects of arm


synonyms

ADAM syndrome

Amniotic deformity - adhesion - mutilation syndrome

amoxicillin

http://purl.obolibrary.org/obo/CHEBI_2676

A penicillin in which the substituent at position 6 of the penam ring is a 2-amino-2-(4-hydroxyphenyl)acetamido group.

A penicillin that has formula C16H19N3O5S.


parents

chemical compound


synonyms

(2S,5R,6R)-6-{[(2R)-2-amino-2-(4-hydroxyphenyl)acetyl]amino}-3,3-dimethyl-7-oxo-4-thia-1-azabicyclo[3.2.0]heptane-2-carboxylic acid

[H][C@]12SC(C)(C)[C@@H](N1C(=O)[C@H]2NC(=O)[C@H](N)c1ccc(O)cc1)C(O)=O

6-(p-hydroxy-alpha-aminophenylacetamido)penicillanic acid

6beta-[(2R)-2-amino-2-(4-hydroxyphenyl)acetamido]-2,2-dimethylpenam-3alpha-carboxylic acid

alpha-amino-p-hydroxybenzylpenicillin

Amolin

Amopenixin

amoxicilina

Amoxicillin anhydrous

amoxicilline

amoxicillinum

amoxycillin

AMPC

AX

C16H19N3O5S

Clamoxyl

InChI=1/C16H19N3O5S/c1-16(2)11(15(23)24)19-13(22)10(14(19)25-16)18-12(21)9(17)7-3-5-8(20)6-4-7/h3-6,9-11,14,20H,17H2,1-2H3,(H,18,21)(H,23,24)/t9-,10-,11+,14-/m1/s1/f/h18,23H

InChIKey=LSQZJLSUYDQPKJ-VLWBPTPADT

Moxal

p-hydroxyampicillin

ampere

http://purl.obolibrary.org/obo/UO_0000011

An ampere is an electric current unit which is equal to the constant current which, if maintained in two straight parallel conductors of infinite length, of negligible circular cross-section, and placed 1 m apart in vacuum, would produce between these conductors a force equal to 2 x 10^[-7] newton per meter of length.

An electric current unit which is equal to the constant current which, if maintained in two straight parallel conductors of infinite length, of negligible circular cross-section, and placed 1 m apart in vacuum, would produce between these conductors a force equal to 2 x 10^[-7] newton per meter of length.


parents

electric current unit


synonyms

A

Amphimedon queenslandica

http://purl.obolibrary.org/obo/NCBITaxon_400682


parents

Eukaryota


synonyms

Reniera sp. JGI-2005

amphiprotic solvent role

http://purl.obolibrary.org/obo/CHEBI_4836

A docosenoic acid that has formula C22H42O2.

An oxazinooxazine that has formula C12H23NO2.


parents

chemical role


synonyms

(13Z)-docos-13-enoic acid

3,3,6,6,8a-pentamethyl-1,8-dioxaquinolizidine

3,3,6,6,8a-pentamethyltetrahydro-1,8-dioxa-4a-azanaphthalene

3,3,6,6,8a-Pentamethyl-tetrahydro-1,8-dioxa-4a-aza-naphthalene

3,3,7,7,9a-pentamethyltetrahydro-2H,6H-[1,3]oxazino[2,3-b][1,3]oxazine

C12H23NO2

CC1(C)COC2(C)OCC(C)(C)CN2C1

erucic acid

InChI=1/C12H23NO2/c1-10(2)6-13-7-11(3,4)9-15-12(13,5)14-8-10/h6-9H2,1-5H3

InChIKey=HXCGBGUJRISVDD-UHFFFAOYAH

Amphiura filiformis

http://purl.obolibrary.org/obo/NCBITaxon_82378


parents

Eukaryota

amphotericin B

http://purl.obolibrary.org/obo/CHEBI_2682

A macrolide antibiotic used to treat potentially life-threatening fungal infections.


parents

chemical compound


synonyms

(1R,3S,5R,6R,9R,11R,15S,16R,17R,18S,19E,21E,23E,25E,27E,29E,31E,33R,35S,36R,37S)-33-[(3-amino-3,6-dideoxy-beta-D-mannopyranosyl)oxy]-1,3,5,6,9,11,17,37-octahydroxy-15,16,18-trimethyl-13-oxo-14,39-dioxabicyclo[33.3.1]nonatriaconta-19,21,23,25,27,29,31-heptaene-36-carboxylic acid

[H][C@]12C[C@@H](O[C@@H]3O[C@H](C)[C@@H](O)[C@H](N)[C@@H]3O)\\C=C\\C=C\\C=C\\C=C\\C=C\\C=C\\C=C\\[C@H](C)[C@@H](O)[C@@H](C)[C@H](C)OC(=O)C[C@H](O)C[C@H](O)CC[C@@H](O)[C@H](O)C[C@H](O)C[C@](O)(C[C@H](O)[C@H]1C(O)=O)O2

amfotericina B

AMPH-B

Amphotericine B

amphotericinum B

InChI=1/C47H73NO17/c1-27-17-15-13-11-9-7-5-6-8-10-12-14-16-18-34(64-46-44(58)41(48)43(57)30(4)63-46)24-38-40(45(59)60)37(54)26-47(61,65-38)25-33(51)22-36(53)35(52)20-19-31(49)21-32(50)23-39(55)62-29(3)28(2)42(27)56/h5-18,27-38,40-44,46,49-54,56-58,61H,19-26,48H2,1-4H3,(H,59,60)/b6-5+,9-7+,10-8+,13-11+,14-12+,17-15+,18-16+/t27-,28-,29-,30+,31+,32+,33-,34-,35+,36+,37-,38-,40+,41-,42+,43+,44-,46-,47+/m0/s1/f/h59H

InChIKey=APKFDSVGJQXUKY-YQFBPWLTDP

Liposomal Amphotericin B

ampicillin

http://purl.obolibrary.org/obo/CHEBI_28971

A penicillin in which the substituent at position 6 of the penam ring is a 2-amino-2-phenylacetamido group.


parents

chemical compound


synonyms

(2S,5R,6R)-6-{[(2R)-2-amino-2-phenylacetyl]amino}-3,3-dimethyl-7-oxo-4-thia-1-azabicyclo[3.2.0]heptane-2-carboxylic acid

(2S,5R,6R)-6-{[(2R)-2-AMINO-2-PHENYLETHANOYL]AMINO}-3,3-DIMETHYL-7-OXO-4-THIA-1-AZABICYCLO[3.2.0]HEPTANE-2-CARBOXYLIC ACID

[H][C@]12SC(C)(C)[C@@H](N1C(=O)[C@H]2NC(=O)[C@H](N)c1ccccc1)C(O)=O

6-(D-(2-amino-2-phenylacetamido))-3,3-dimethyl-7-oxo-4-thia-1-azabicyclo(3.2.0)heptane-2-carboxylic acid

6beta-[(2R)-2-amino-2-phenylacetamido]-2,2-dimethylpenam-3alpha-carboxylic acid

ABPC

aminobenzylpenicillin

AMP

ampicilina

ampicillin acid

ampicilline

ampicillinum

Anhydrous ampicillin

AP

C16H19N3O4S

D-(-)-6-(alpha-aminophenylacetamido)penicillanic acid

D-(-)-ampicillin

InChI=1/C16H19N3O4S/c1-16(2)11(15(22)23)19-13(21)10(14(19)24-16)18-12(20)9(17)8-6-4-3-5-7-8/h3-7,9-11,14H,17H2,1-2H3,(H,18,20)(H,22,23)/t9-,10-,11+,14-/m1/s1/f/h18,22H

InChIKey=AVKUERGKIZMTKX-KXDAXDHGDU

amplicon sequencing

http://www.ebi.ac.uk/efo/EFO_0003747

An assay in which a DNA or RNA input molecule amplified by PCR is sequenced.


parents

assay by molecule

sequencing assay

seq_library_strategy

amygdala

http://purl.obolibrary.org/obo/UBERON_0001876

Subdivision of basal ganglion of telencephalon which is an almond-shaped gray mass in the dorsomedial part of the temporal lobe[FMA]


parents

basal ganglion


synonyms

amygdaloid area

amygdaloid body

amygdaloid complex

amygdaloid nuclear complex

amygdaloid nuclear group

amygdaloid nuclear groups

amygdaloid nucleus

archistriatum

corpus amygdaloideum

nucleus amygdalae

amygdala reactivity measurement

http://www.ebi.ac.uk/efo/EFO_0004550

Is the quantification of amygdala response to stimulus using MRI.


parents

measurement

amyloid-beta measurement

http://www.ebi.ac.uk/efo/EFO_0005194

quantification of the amyloid-beta, either in a sample of cerebro-spinal fluid or via PET scan, used as a biomarker for Alzheimer's disease


parents

protein measurement


synonyms

Ab measurement

cortical Ab measurement

amyotrophic lateral sclerosis

http://www.ebi.ac.uk/efo/EFO_0000253

A degenerative disorder affecting upper MOTOR NEURONS in the brain and lower motor neurons in the brain stem and SPINAL CORD. Disease onset is usually after the age of 50 and the process is usually fatal within 3 to 6 years. Clinical manifestations include progressive weakness, atrophy, FASCICULATION, hyperreflexia, DYSARTHRIA, dysphagia, and eventual paralysis of respiratory function. Pathologic features include the replacement of motor neurons with fibrous ASTROCYTES and atrophy of anterior SPINAL NERVE ROOTS and corticospinal tracts. (From Adams et al., Principles of Neurology, 6th ed, pp1089-94)

A degenerative disorder affecting upper MOTOR NEURONS in the brain and lower motor neurons in the brain stem and SPINAL CORD. Disease onset is usually after the age of 50 and the process is usually fatal within 3 to 6 years. Clinical manifestations include progressive weakness, atrophy, FASCICULATION, hyperreflexia, DYSARTHRIA, dysphagia, and eventual paralysis of respiratory function. Pathologic features include the replacement of motor neurons with fibrous ASTROCYTES and atrophy of anterior SPINAL NERVE ROOTS and corticospinal tracts (MeSH).

An autosomal dominant inherited form of amyloidosis.


parents

motor neuron disease


children

familial amyotrophic lateral sclerosis

sporadic amyotrophic lateral sclerosis


synonyms

ALS

ALS (Amyotrophic Lateral Sclerosis)

ALS - Amyotrophic lateral sclerosis

Amyotrophic Lateral Sclerosis, Guam Form

Amyotrophic lateral sclerosis, Parkinsonism/Dementia complex of Guam

Amyotrophic lateral sclerosis (disorder)

Amyotrophic Lateral Sclerosis-Parkinsonism/dementia Complex 1

Amyotrophic Lateral Sclerosis With Dementia

AMYOTROPHIC SCLEROSIS

Bulbar motor neuron disease

Dementia With Amyotrophic Lateral Sclerosis

Disease, Lou-Gehrigs

Gehrig's Disease

Gehrig Disease

GEHRIGS DIS

Gehrigs Disease

Guam Form of Amyotrophic Lateral Sclerosis

Lateral Scleroses, Amyotrophic

Lou Gehrig's Disease

LOU GEHRIG DIS

Lou Gehrig Disease

LOU GEHRIGS DIS

Lou Gehrigs Disease

Lou-Gehrigs Disease

MOTOR NEURON DIS AMYOTROPHIC LATERAL SCLEROSIS

Motor Neuron Disease, Amyotrophic Lateral Sclerosis

Motor neuron disease, bulbar

Sclerosis, Amyotrophic Lateral

Amyotrophic lateral sclerosis type 4

http://www.orpha.net/ORDO/Orphanet_357043


parents

Genetic neurodegenerative disease

Genetic motor neuron disease


synonyms

ALS4

dHMN with upper motor neuron signs

Distal hereditary motor neuropathy with upper motor neuron signs

AN3CA

http://www.ebi.ac.uk/efo/EFO_0002110


parents

cancer cell line

Homo sapiens cell line

Anaeromyxobacter dehalogenans 2CP-C

http://purl.obolibrary.org/obo/NCBITaxon_290397


parents

Bacteria


synonyms

Anaeromyxobacter dehalogenans ATCC BAA-259

Anaeromyxobacter dehalogenans str. 2CP-C

Anaeromyxobacter dehalogenans strain 2CP-C

anal fin

http://www.ebi.ac.uk/efo/EFO_0003642


parents

zebrafish component

anal neoplasm

http://www.ebi.ac.uk/efo/EFO_0003835

Tumors or cancer of the ANAL CANAL.


parents

neoplasm


synonyms

Anal Cancer

Anal Cancers

ANAL NEOPL

Anal Neoplasms

Anus Cancer

Anus Cancers

ANUS NEOPL

Anus Neoplasm

Anus Neoplasms

Cancer, Anal

Cancer of Anus

Cancer of the Anus

Cancers, Anal

NEOPL ANAL

NEOPL ANUS

Neoplasm, Anal

Neoplasm, Anus

Neoplasms, Anal

Neoplasms, Anus

anal pad specific anlage

http://www.ebi.ac.uk/efo/EFO_0000254


parents

anal region

anal region

http://purl.obolibrary.org/obo/UBERON_0001353

The anus and surrounding regions. Encompasses both internal and external regions, where present


parents

animal component


children

anal pad specific anlage

analyte role

http://purl.obolibrary.org/obo/OBI_0000275

Analyte role is a role borne by a material entity and realized by implementation of an analyte measuring assay with objective to detect the magnitude/concentration/ amount of the analyte in the entity bearing evaluant role.

Analyte role is a role borne by a molecular entity and realized in an analyte assay which achieves the objective to measure the magnitude/concentration/amount of the analyte in the entity bearing evaluant role


parents

role

Anaplasma phagocytophilum

http://purl.obolibrary.org/obo/NCBITaxon_948


parents

Bacteria


synonyms

agent of human granulocytic ehrlichiosis

Anaplasma phagocytophila

Cytoecetes bovis

Cytoecetes phagocytophila

Ehrlichia equi

Ehrlichia phagocytophila

Ehrlichia sp. 'HGE agent'

HGE agent

human granulocytic Ehrlichia

Rickettsia phagocytophila

Rickettsia phagocytophila ovis

Anaplasma phagocytophilum HZ

http://purl.obolibrary.org/obo/NCBITaxon_212042


parents

Bacteria


synonyms

Anaplasma phagocytophila HZ

Anaplasma phagocytophila str. HZ

Anaplasma phagocytophilum str. HZ

anaplastic astrocytoma

http://www.ebi.ac.uk/efo/EFO_0002499


parents

astrocytoma


synonyms

Anaplastic Astrocytoma

Anaplastic Astrocytomas

Astrocytoma, Anaplastic

astrocytoma, anaplastic (morphologic abnormality)

Astrocytomas, Anaplastic

grade III Astrocytic tumor

anaplastic large cell lymphoma

http://www.ebi.ac.uk/efo/EFO_0003032


parents

neoplasm of mature T-cells or NK-cells

anaplastic oligoastrocytoma

http://www.ebi.ac.uk/efo/EFO_0002500


parents

oligoastrocytoma


synonyms

anaplastic oligoastrocytoma (morphologic abnormality)

WHO grade III mixed glioma

anaplastic oligodendroglioma

http://www.ebi.ac.uk/efo/EFO_0002501


parents

oligodendroglioma


synonyms

Anaplastic Oligodendroglioma

Anaplastic Oligodendrogliomas

Oligodendroglioma, Anaplastic

Oligodendroglioma, anaplastic (morphologic abnormality)

Oligodendrogliomas, Anaplastic

Undifferentiated Oligodendroglioma

Anas platyrhynchos

http://purl.obolibrary.org/obo/NCBITaxon_8839


parents

Eukaryota


synonyms

Anas boschas

Anas domesticus

Anas platyrhynchus

duck

mallard

mallard duck

mallard ducks

anastrozole

http://purl.obolibrary.org/obo/CHEBI_2704

A 1,2,4-triazole compound having a 3,5-bis(2-cyano-2-propyl)benzyl group at the 1-position.


parents

chemical compound


synonyms

2,2'-[5-(1H-1,2,4-triazol-1-ylmethyl)-1,3-phenylene]bis(2-methylpropanenitrile)

alpha,alpha,alpha',alpha'-Tetramethyl-5-(1H-1,2,4-triazol-1-ylmethyl)-m-benzenediacetonitrile

Anastrozol

C17H19N5

CC(C)(C#N)c1cc(Cn2cncn2)cc(c1)C(C)(C)C#N

InChI=1/C17H19N5/c1-16(2,9-18)14-5-13(8-22-12-20-11-21-22)6-15(7-14)17(3,4)10-19/h5-7,11-12H,8H2,1-4H3

InChIKey=YBBLVLTVTVSKRW-UHFFFAOYAZ

anatomical modifier

http://www.ebi.ac.uk/efo/EFO_0001646

An anatomical modifier is a quality which inheres in an organism part.


parents

quality


children

alveolus

geometric modifier

tissue modifier

anatomical system

http://purl.obolibrary.org/obo/UBERON_0000467

Anatomical group that is has as its parts distinct anatomical structures interconnected by anatomical structures at a lower level of granularity[CARO]. A group of organs that work together to perform a certain task [Wikipedia].


parents

animal component


children

biliary system

cardiovascular system

central nervous system

digestive system

endocrine system

enteric nervous system

genitourinary system

gustatory system

hematopoietic system

hepatobiliary system

immune system

integumental system

nervous system

olfactory system

parasympathetic nervous system

peripheral nervous system

reproductive system

respiratory system

sensory system

skeletal system

sympathetic nervous system

anatomy basic component

http://www.ebi.ac.uk/efo/EFO_0000786


parents

organism part


children

animal component

fungal component

plant component

Anauxetic dysplasia

http://www.orpha.net/ORDO/Orphanet_93347


parents

Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia


synonyms

Spondyloepimetaphyseal dysplasia, anauxetic type

Spondyloepimetaphyseal dysplasia, Menger type

androgen

http://purl.obolibrary.org/obo/CHEBI_50113

A steroid hormone that stimulates or controls the development and maintenance of masculine characteristics in vertebrates by binding to androgen receptors.


parents

hormone


synonyms

Androgene

androgenes

androgeno

androgenos

androgens

androgenetic alopecia

http://www.ebi.ac.uk/efo/EFO_0004191


parents

genetic disorder


synonyms

alopecia, androgenetic

alopecia, male pattern

male pattern baldness

male-pattern baldness

Androgen insensitivity syndrome

http://www.orpha.net/ORDO/Orphanet_754

Androgen insensitivity syndrome (AIS) is a disorder of sex development (DSD) characterized by the presence of female external genitalia, ambiguous genitalia or variable defects in virilization in a 46,XY individual with absent or partial responsiveness to age-appropriate levels of androgens. It comprises two clinical subgroups: complete AIS (CAIS) and partial AIS (PAIS) (see these terms).


parents

46,XY disorder of sex development of gynecological interest

Genetic 46,XY disorder of sex development of endocrine origin

Rare male infertility due to testicular endocrine disorder


children

Complete androgen insensitivity syndrome

Partial androgen insensitivity syndrome


synonyms

AIS

Androgen resistance syndrome

Goldberg-Maxwell syndrome

Morris syndrome

Testicular feminization syndrome

Andropogon gerardii

http://purl.obolibrary.org/obo/NCBITaxon_79824


parents

Viridiplantae


synonyms

Andropogon gerardii Vitman

anemia

http://www.ebi.ac.uk/efo/EFO_0004272

A reduction in the number of circulating erythrocytes or in the quantity of hemoglobin.


parents

cardiovascular disease


children

hemolytic anemia

iron deficiency anemia

Anemia due to adenosine triphosphatase deficiency

http://www.orpha.net/ORDO/Orphanet_1044


parents

Disorder of purine metabolism

Hemolytic anemia due to an erythrocyte nucleotide metabolism disorder

Anemonia viridis

http://purl.obolibrary.org/obo/NCBITaxon_51769


parents

Eukaryota

ANE syndrome

http://www.orpha.net/ORDO/Orphanet_157954


parents

Rare disorder with hypogonadotropic hypogonadism

Rare genetic intellectual disability with developmental anomaly

Alopecia

Disease associated with non-acquired combined pituitary hormone deficiency


synonyms

Alopecia - progressive neurological defect - endocrinopathy

Aneurysm - osteoarthritis syndrome

http://www.orpha.net/ORDO/Orphanet_284984


parents

Marfan and Marfan-related disorder

Rare disease with thoracic aortic aneurysm and aortic dissection


synonyms

AOS

Angelman syndrome

http://www.orpha.net/ORDO/Orphanet_72

Angelman syndrome (AS) is a neurogenetic disorder characterized by severe intellectual deficit and distinct facial dysmorphic features.


parents

Rare genetic intellectual disability with developmental anomaly


children

Angelman syndrome due to maternal 15q11q13 deletion

Angelman syndrome due to paternal uniparental disomy of chromosome 15

Angelman syndrome due to maternal 15q11q13 deletion

http://www.orpha.net/ORDO/Orphanet_98794


parents

Partial deletion of the long arm of chromosome 15

Angelman syndrome


synonyms

Angelman syndrome due to maternal monosomy 15q11q13

Angelman syndrome due to paternal uniparental disomy of chromosome 15

http://www.orpha.net/ORDO/Orphanet_98795


parents

Angelman syndrome

Uniparental disomy of paternal origin


synonyms

UPD(15)pat

Angel-shaped phalango-epiphyseal dysplasia

http://www.orpha.net/ORDO/Orphanet_63442


parents

Acromelic dysplasia


synonyms

ASPED

angina pectoris

http://www.ebi.ac.uk/efo/EFO_0003913

The symptom of paroxysmal pain consequent to MYOCARDIAL ISCHEMIA usually of distinctive character, location and radiation. It is thought to be provoked by a transient stressful situation during which the oxygen requirements of the MYOCARDIUM exceed that supplied by the CORONARY CIRCULATION.


parents

sign or symptom

heart disease

vascular disease


synonyms

Angor Pectoris

Stenocardia

Stenocardias

angioedema

http://www.ebi.ac.uk/efo/EFO_0005532

condition similar to urticarai but with swelling occuring in a lower layer of the dermis as well as in the subcutis


parents

skin disease

angioimmunoblastic T-cell lymphoma

http://www.ebi.ac.uk/efo/EFO_0000255

A mature T-cell non-Hodgkin lymphoma, characterized by systemic disease and a polymorphous infiltrate involving lymph nodes. It occurs in the middle aged and elderly, with an equal incidence in males and females. The clinical course is typically aggressive. (WHO, 2001)


parents

lymphoma

neoplasm of mature T-cells or NK-cells


synonyms

AILD

AILT

Angioimmunoblastic Lymphadenopathy

Angioimmunoblastic Lymphadenopathy Type T-Cell Lymphoma

Angioimmunoblastic Lymphadenopathy with Dysproteinemia

Angioma serpiginosum

http://www.orpha.net/ORDO/Orphanet_95429


parents

Genetic skin vascular disorder

Angioosteohypertrophic syndrome

http://www.orpha.net/ORDO/Orphanet_2346


parents

Genetic skin vascular disorder

Genetic vascular anomaly

Congenital vascular bone syndrome

Overgrowth syndrome

Malformation syndrome with hamartosis


children

Klippel-Trénaunay syndrome

Parkes Weber syndrome


synonyms

Klippel-Trénaunay-Weber syndrome

Angioosteohypotrophic syndrome

http://www.orpha.net/ORDO/Orphanet_75508


parents

Congenital vascular bone syndrome


synonyms

Phlebectatic osteohypoplastic angiodysplasia

Servelle-Martorell syndrome

angiosarcoma

http://www.ebi.ac.uk/efo/EFO_0003968

A malignant tumor arising from the endothelial cells of the blood vessels. Microscopically, it is characterized by frequently open vascular anastomosing and branching channels. The malignant cells that line the vascular channels are spindle or epithelioid and often display hyperchromatic nuclei. Angiosarcomas most frequently occur in the skin and breast. Patients with long-standing lymphedema are at increased risk of developing angiosarcoma.


parents

vascular sarcoma


synonyms

Hemangiosarcoma

angiotensin converting enzyme activity measurement

http://www.ebi.ac.uk/efo/EFO_0004463

ACE activity level

An angiotensin converting enzyme (ACE) activity measurement measures the ACE activity in the blood. ACE mediates extracellular volume by participation in the renin-angiotensin system and is a therefore target for ACE inhibitors which aim to reduce blood pressure

angiotensin converting ezyme activity level


parents

measurement


synonyms

ACE activity measurement

Angiotensin-converting enzyme activity

angiotensin-converting enzyme inhibitor

http://purl.obolibrary.org/obo/CHEBI_35457


parents

enzyme inhibitor

drug role


synonyms

ACE inhibitor

angiotensin-converting enzyme inhibitor

angiotensin II

http://purl.obolibrary.org/obo/CHEBI_48432


parents

chemical compound


synonyms

1-8-angiotensin I

ang II

angiotensina II

angiotensinum II

angle unit

http://purl.obolibrary.org/obo/UO_0000121

A unit which is a standard measure of the figure or space formed by the junction of two lines or planes.


parents

unit


children

degree

Anguilla anguilla

http://purl.obolibrary.org/obo/NCBITaxon_7936


parents

Eukaryota


synonyms

Angill angill

European eel

European freshwater eel

Muraena anguilla

anguloarticular

http://www.ebi.ac.uk/efo/EFO_0003530

The anguloarticular is a compound bone that results of the fusion of the dermal angular and the cartilaginous articular and forms the posterior part of the lower jaw. The dermal part ossifies initially on the posterolateral surface of Meckel's cartilage near the articulation with the quadrate (5.5 mm NL). A posterior process forms, creating a synovial joint with the quadrate.


parents

zebrafish component


synonyms

articular

Anhidrotic ectodermal dysplasia - immunodeficiency - osteopetrosis - lymphedema

http://www.orpha.net/ORDO/Orphanet_69088


parents

Osteopetrosis

Other immunodeficiency syndromes due to defects in innate immunity

Ectodermal dysplasia syndrome

Syndromic lymphedema


synonyms

OL-EDA-ID

animal body part

http://www.ebi.ac.uk/efo/EFO_0000808

Anatomical structure, which is a subdivision of a cardinal body part; it may exclude bones; is demarcated from other subdivisions of the same cardinal body part by anatomical surfaces or lines or topographical references; together with other contiguous subdivisions of the same cardinal body part, it constitutes a cardinal body part. Examples: thorax, perineum, back of neck, forearm, hand, phalanx, nose, auricle of ear, scrotum.

Anatomical structure which is a primary subdivision of whole organism. The mereological sum of these is the whole organism.


parents

animal component


children

buttock

head capsule

hip

inguinal region

thigh


synonyms

anatomical site

body part

organism subdivision

Principal body part subdivision

Subdivision of cardinal body part

animal component

http://www.ebi.ac.uk/efo/EFO_0000787


parents

anatomy basic component


children

abdomen

abdomenal wall

abdominal aorta

abdominal cavity

abdominal skin

adipose tissue

adult segment

alveolar bone

alveolus

amnioserosa

anal region

anatomical system

animal body part

animal developmental tissue

animal fluid

animal ovary

ankle joint

anlage

appendage

appendicular skeleton

appendix

ascending colon

axial skeleton structure

axilla

basal ganglion

basibranchial bone

bed nucleus of stria terminalis

bladder mucosa

blastula stage

blood

blood vessel

body proper

bone

bone marrow

brain

brainstem

brain ventricle

breast

bronchial epithelium

bronchiole

bronchus

brown adipose tissue

caecum

Caenorhabditis component

calf

capillary

cartilage

cartilage element of chondrocranium

caudate nucleus

caudate-putamen

cerebellum

cerebral cortex

cerebral hemisphere

cerebral peduncle

cerebrospinal fluid

cervix

cervix epithelium

chest

chitin-based cuticle

chordamesoderm

chordate pharynx

chordotonal organ

chorion

cingulate cortex

cleavage stage

cochlea

colon

colonic mucosa

conjunctiva

conjunctival epithelium

connective tissue

core of nucleus accumbens

cornea

corneal epithelium

corneal limbus

corneal stroma

corpus callosum

corpus striatum

craniofacial tissue

cranium

crypt

decidua basalis

deltoid

dermis

descending colon

descending thoracic aorta

diaphragm

diencephalon

diencephalon neural crest

digit

dorsal raphe nucleus

dorsum

Drosophila component

duodenum

early telencephalic vesicle

ejaculatory duct

elbow

elementary body

embryo

embryonic blood

embryonic structure

endocrine system component

endometrium

endothelium

entorhinal area

epidermis

epididymis

epithalamus

epithelium of small intestine

esophageal epithelium

esophagus

excreta

exoskeleton

external ear

extraembryonic tissue

eye

eyelid

fallopian tube

feather

female accessory gland

foetal structure

forebrain

foreskin

frontal cortex

fundus of stomach

future spinal cord

gallbladder

ganglion

gastrointestinal system

gastrula stage

gingiva

gland

globus pallidus

gonad

gum

hair

hair follicle

head

heart

hermaphrodite gonad

hindbrain

hindlimb muscle

horizontal septum

hypopharynx

hypothalamus

ileum

ilium

inferior colliculus

intercostal muscle

internal ear

interventricular septum

intestinal epithelium

intestine

iris

jejunum

joint

joint component

juvenile stage

kidney

knee

knee joint

large intestine

larval stage

larynx

lateral geniculate body

ligament

limb bone

locus ceruleus

lower epidermis

lung

lymph

lymphatic vessel

lymph node

lymphoid tissue

male accessory gland

Malpighian tubule

mature ovarian follicle

medial geniculate body

median fin skeleton

mediastinum

medulla oblongata

meninx

midbrain

midbrain tectum

middle temporal gyrus

midgut

mouth

mouth floor

mouth mucosa

mucosa of tongue

muscle of head

musculature

musculature of body

myometrium

nail

neck

nephron tubule

neurohemal organ

neurohypophysis

non-neural ectoderm

nucleus accumbens

nucleus of medial longitudinal fasciculus of medulla

occipital lobe

oculomotor nuclear complex

olfactory apparatus

olfactory epithelium

olfactory lobe

optic disc

optic nerve

orbit

orbitofrontal cortex

oropharynx

oviduct

paired fin skeleton

pancreactic component

parietal lobe

pectoral girdle

pectoral limb scapula

pelvis

penis

perineum

Perirhinal cortex

peritoneum

peritrophic membrane

Peyer's patch

pharyngeal arch cartilage

pharyngeal arch derived gill

pharyngula stage

phlegm

pigment

placenta

pleura

pons

postcentral gyrus

postcranial axial skeleton

post-hyoid pharyngeal arch

precentral gyrus

prefrontal cortex

preoptic area

prepuce of penis

presomitic mesoderm

primary motor cortex

primordium

pulmonary alveolus

pupa

pyloric antrum

rectum

retina

sacrum

scale

sciatic nerve

seminiferous tubules

septum of telencephalon

shell of nucleus accumbens

shoulder

sigmoid colon

silk gland

skeleton

skeleton structure

skin

skin of body

small intestine

somatosensory cortex

sperm

spermathecum

spinal cord

spleen

stomach

stylopod

substantia nigra

subthalamic nucleus

superior colliculus

superior frontal gyrus

superior temporal gyrus

suprachiasmatic nucleus

supraoptic nucleus

tail

tail bud

tarsal region

telencephalon

telencephalon neural crest

temporal lobe

terminal ileum

testis

thalamus

theca cell layer

thoracic aorta

tongue

tonsil

tooth

trachea

transverse colon

trigeminal nerve

trunk

umbilical cord

umbilical cord blood

ureter

urethra

urinary bladder

uterine cervix

uterus

uterus fundus

uvula

vagina

vagus nerve

vasculature

vasculature of eye

vas deferens

ventral nerve cord

ventral striatum

ventral tegmental area

vermiform appendix

vertebra

vessel

visual cortex

vomeronasal organ

vulva

white adipose tissue

yolk sac

zebrafish component

zeugopod

animal developmental tissue

http://www.ebi.ac.uk/efo/EFO_0000795

.

Anatomical structure that is part of the embryo and is comprised of portions of tissue or cells.


parents

animal component


children

adaxial cells

adductor mandibulae

adult eye primordium

adult foregut precursor

adult hindgut precursor

adult midgut precursor

adult muscle precursor primordium

anlage in statu nascendi

antennal primordium1

antennal primordium2

anterior endoderm anlage

anterior endoderm anlage in statu nascendi

anterior endoderm primordium

anterior midgut primordium

anterior spiracle specific anlage

apoptotic amnioserosa

circular visceral muscle fibers

clypeo-labral primordium

crystal cell

crystal cell specific anlage

DEL cells

dorsal apodeme specific anlage

dorsal ectoderm anlage in statu nascendi

dorsal ectoderm primordium

dorsal epidermis primordium

dorsal histoblast nest abdominal

dorsal imaginal precursor

dorsal metathoracic disc

dorsal pharyngeal muscle primordium

dorsal prothoracic pharyngeal muscle

dorsal ridge

dorsal trunk specific anlage

dorsomedial neurosecretory cell

ectoderm anlage in statu nascendi

nervous system developmental tissue


synonyms

embryonic structure

animal fluid

http://www.ebi.ac.uk/efo/EFO_0000796


parents

animal component


children

ascitic fluid

bile

coelomic fluid

saliva

seminal fluid

venom


synonyms

fluid - animal

animal ovary

http://www.ebi.ac.uk/efo/EFO_0000973

Female reproductive organ.


parents

animal component


synonyms

ovaries

ovary

ovary - animal

animal reproductive system

http://www.ebi.ac.uk/efo/EFO_0000809


parents

genitourinary system


synonyms

genital system

reproductive system

reproductive system - animals

animal reproductive system cell

http://www.ebi.ac.uk/efo/EFO_0002962


parents

reproductive system cell


children

cumulus-oocyte complex

Genetic infertility

Sertoli cell

Aniridia

http://www.orpha.net/ORDO/Orphanet_77

Aniridia is a congenital ocular malformation characterized by the complete or partial absence of the iris. It can be isolated or part of a syndrome (isolated and syndromic aniridia; see these terms).


parents

Major induction processes eye anomaly

Iridogoniodysgenesis

Syndromic cataract


children

Isolated aniridia

Syndromic aniridia

Aniridia - absent patella

http://www.orpha.net/ORDO/Orphanet_1069

Aniridia-absent patella is a syndrome described in three members of a family (a boy, his father, and his paternal grandmother) that is characterized by the association of aniridia with patella aplasia or hypoplasia (see these terms). The grandmother also had bilateral cataracts and glaucoma. There have been no further descriptions in the literature since 1975.


parents

Syndromic developmental defect of the eye

Syndromic aniridia

Aniridia - cerebellar ataxia - intellectual disability

http://www.orpha.net/ORDO/Orphanet_1065

Aniridia - cerebellar ataxia - intellectual disability, also known as Gillespie syndrome, is a rare congenital disorder characterized by the association of partial bilateral aniridia with non progressive cerebellar ataxia, and intellectual disability.


parents

Syndromic developmental defect of the eye

Rare genetic intellectual disability with developmental anomaly

Syndromic aniridia

Rare disease with glaucoma as a major feature


synonyms

Gillespie syndrome

Aniridia-intellectual disability syndrome

http://www.orpha.net/ORDO/Orphanet_1068

Aniridia-intellectual disability syndrome is an extremely rare autosomal dominant developmental defect of the eye described in several members of one family that is characterized by the association of moderate intellectual disability with aniridia, lens dislocation, optic nerve hypoplasia (see this term) and cataracts. There have been no further descriptions in the literature since 1974.


parents

Syndromic developmental defect of the eye

Rare genetic intellectual disability with developmental anomaly

Syndromic aniridia


synonyms

Walker-Dyson syndrome

Aniridia - ptosis - intellectual disability - familial obesity

http://www.orpha.net/ORDO/Orphanet_1067

Aniridia - ptosis - intellectual disability - familial obesity is an extremely rare syndrome described in three members of a family (a mother and her two children) that is characterized by the association of various ocular abnormalities (partial or complete aniridia, ptosis, pendular nystagmus, corneal pannus, , persistent pupillary membrane, lenticular opacities, foveal hypoplasia, and low visual acuity) with various systemic anomalies including intellectual disability and obesity in the two children, and alopecia, cardiac abnormalities, and frequent spontaneous abortion in the mother. There have been no further descriptions in the literature since 1986.


parents

Syndromic developmental defect of the eye

Rare genetic intellectual disability with developmental anomaly

Syndromic aniridia

Aniridia - renal agenesis - psychomotor retardation

http://www.orpha.net/ORDO/Orphanet_1064

Aniridia - renal agenesis - psychomotor retardation is an extremely rare syndrome reported in two siblings of non consanguineous parents that is characterized by the association of ocular abnormalities (partial aniridia, congenital glaucoma (see these terms), telecanthus) with frontal bossing, hypertelorism, unilateral renal agenesis (see this term) and mild psychomotor delay. There have been no further descriptions in the literature since 1974.


parents

Multiple congenital anomalies/dysmorphic syndrome-intellectual disability

Rare genetic intellectual disability with developmental anomaly

Syndromic renal or urinary tract malformation

Syndromic aniridia


synonyms

Sommer-Rathbun-Battles syndrome

ankle brachial index

http://www.ebi.ac.uk/efo/EFO_0003912

An alternative to the ankle-brachial index.

Comparison of the BLOOD PRESSURE between the BRACHIAL ARTERY and the POSTERIOR TIBIAL ARTERY. It is a predictor of PERIPHERAL ARTERIAL DISEASE.


parents

cardiovascular measurement


synonyms

ABPI

Ankle-Brachial Index

Ankle Brachial Indices

Ankle-Brachial Indices

ankle brachial pressure index

Ankle Brachial Pressure Index (ABPI)

Brachial Index, Ankle

Brachial Index, Toe

Brachial Indices, Ankle

Brachial Indices, Toe

Index, Ankle Brachial

Index, Ankle-Brachial

Index, Toe Brachial

Index, Toe-Brachial

Indices, Ankle Brachial

Indices, Ankle-Brachial

Indices, Toe Brachial

Indices, Toe-Brachial

Toe Brachial Index

Toe-Brachial Index

Toe Brachial Indices

Toe-Brachial Indices

ankle joint

http://purl.obolibrary.org/obo/UBERON_0001488

A joint that connects the hindlimb autopod and zeugopod skeletons.


parents

animal component


synonyms

gambrel

hock

hock joint

talocrural articulation

talocrural joint

talotibial joint

Ankyloblepharon - ectodermal defects - cleft lip/palate

http://www.orpha.net/ORDO/Orphanet_1071

Ankyloblepharon-ectodermal defects-cleft lip/palate (AEC) syndrome is an ectodermal dysplasia syndrome (see this term) with defining features of ankyloblepharon filiforme adnatum (AFA), ectodermal abnormalities and a cleft lip and/or palate.


parents

Syndromic developmental defect of the eye

Syndrome or malformation associated with head and neck malformations

Genetic syndrome with limb reduction defects

Ectodermal dysplasia syndrome

Syndromic ankyloblepharon


synonyms

AEC syndrome

Hay-Wells syndrome

Ankyloblepharon filiforme adnatum - cleft palate

http://www.orpha.net/ORDO/Orphanet_1072


parents

Syndromic developmental defect of the eye

Orofacial clefting syndrome

Syndromic ankyloblepharon

Ankyloblepharon filiforme - imperforate anus

http://www.orpha.net/ORDO/Orphanet_1074


parents

Syndromic developmental defect of the eye

Syndromic anorectal malformation

Syndrome or malformation associated with head and neck malformations

Syndromic ankyloblepharon


synonyms

Aughton-Hufnagle syndrome

ankylosing spondylitis

http://www.ebi.ac.uk/efo/EFO_0003898

A chronic inflammatory condition affecting the axial joints, such as the SACROILIAC JOINT and other intervertebral or costovertebral joints. It occurs predominantly in young males and is characterized by pain and stiffness of joints (ANKYLOSIS) with inflammation at tendon insertions.


parents

spondyloarthropathy


synonyms

Ankylosing Spondylarthritides

Ankylosing Spondylarthritis

Ankylosing Spondyloarthritides

Ankylosing Spondyloarthritis

Bechterew's Disease

BECHTEREW DIS

Bechterew Disease

BECHTEREWS DIS

Bechterews Disease

MARIE STRUEMPELL DIS

Marie Struempell Disease

Marie-Struempell Disease

Rheumatoid Spondylitis

Spondylarthritides, Ankylosing

Spondylarthritis, Ankylosing

Spondylarthritis Ankylopoietica

Spondylitis, Ankylosing

Spondylitis, Rheumatoid

Spondyloarthritides, Ankylosing

Spondyloarthritis, Ankylosing

Ankylosing vertebral hyperostosis with tylosis

http://www.orpha.net/ORDO/Orphanet_2206


parents

Dysostosis with predominant vertebral and costal involvement

anlage

http://purl.obolibrary.org/obo/UBERON_0007688

Anlagen are populations of contiguous cells, typically arranged in one plane, that are morphologically indistinct, but that already correspond in extent to a later organ/tissue.


parents

animal component

tissue modifier


children

prothoracic leg disc


synonyms

field

anlage in statu nascendi

http://www.ebi.ac.uk/efo/EFO_0000256

"anlagen in statu nascendi" are domains that do not yet coincide 1:1 with a later organ. Anlagen in statu nascendi are typically defined for the early blastoderm by the expression domains of genes which, in the late blastoderm or later, are expressed in specific anlagen, but initially come on in larger domains.


parents

animal developmental tissue


synonyms

A0

Annular epidermolytic ichthyosis

http://www.orpha.net/ORDO/Orphanet_281139

Annular epidermolytic ichthyosis (AEI) is a rare clinical variant of epidermolytic ichthyosis (EI; see this term) characterized by the presence of a blistering phenotype at birth and the development from early infancy of annular polycyclic erythematous scales on the trunk and extremities.


parents

Keratinopathic ichthyosis


synonyms

AEI

Annular pancreas

http://www.orpha.net/ORDO/Orphanet_675


parents

Non-syndromic visceral malformation

Anodontia

http://www.orpha.net/ORDO/Orphanet_99797

Anodontia is an extreme developmental dental anomaly characterized by the complete absence of all teeth.


parents

Rare odontal or periodontal disorder

Anolis carolinensis

http://purl.obolibrary.org/obo/NCBITaxon_28377


parents

Eukaryota


synonyms

green anole

Anomaly of puberty or/and menstrual cycle of genetic origin

http://www.orpha.net/ORDO/Orphanet_202940


parents

Rare genetic gynecological and obstetrical diseases


children

Aromatase excess syndrome

Congenital hypogonadotropic hypogonadism

Hyperandrogenism due to cortisone reductase deficiency

Non-acquired premature ovarian failure

Peripheral precocious puberty

Anomaly of the secretory and excretory apparatus of the lacrimal system

http://www.orpha.net/ORDO/Orphanet_98608


parents

Rare lacrimal system disease


children

EEC syndrome and related syndrome

Anonychia congenita totalis

http://www.orpha.net/ORDO/Orphanet_94150


parents

Congenital anonychia

Anonychia - microcephaly

http://www.orpha.net/ORDO/Orphanet_1094


parents

Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability


synonyms

Teebi-Kaurah syndrome

Anonychia - onychodystrophy

http://www.orpha.net/ORDO/Orphanet_90390


parents

Congenital anonychia

Anonychia with flexural pigmentation

http://www.orpha.net/ORDO/Orphanet_69125


parents

Syndromic nail anomaly

Ectodermal dysplasia syndrome

Anopheles arabiensis

http://purl.obolibrary.org/obo/NCBITaxon_7173


parents

Eukaryota


synonyms

Southern African malaria mosquito

Anopheles funestus

http://purl.obolibrary.org/obo/NCBITaxon_62324


parents

Eukaryota


synonyms

African malaria mosquito

Anopheles gambiae

http://purl.obolibrary.org/obo/NCBITaxon_7165


parents

Eukaryota


synonyms

African malaria mosquito

Anopheles gambia

Anopheles gambiae Giles, 1902

Anopheles gambiae sensu stricto

Anopheles gambiae S

http://purl.obolibrary.org/obo/NCBITaxon_377270


parents

Eukaryota

Anophthalmia/microphthalmia - esophageal atresia

http://www.orpha.net/ORDO/Orphanet_77298

Anophthalmia-esophageal atresia syndrome belongs to the group of syndromic microphthalmias and is characterized by the association of uni- or bilateral anophthalmia or microphthalmia, and esophageal atresia with or without trachoesophageal fistula.


parents

Syndromic microphthalmia

Genetic multiple congenital anomalies/dysmorphic syndrome - variable intellectual disability

Genetic syndromic esophageal malformation

Disease associated with non-acquired combined pituitary hormone deficiency


synonyms

MCOPS3

Syndromic microphthalmia type 3

Anophthalmia - megalocornea - cardiopathy - skeletal anomalies

http://www.orpha.net/ORDO/Orphanet_1101


parents

Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability


synonyms

Cassia Stocco dos Santos syndrome

Anophthalmia - microphthalmia

http://www.orpha.net/ORDO/Orphanet_98555


parents

Major induction processes eye anomaly


children

Isolated anophthalmia - microphthalmia

Syndromic microphthalmia

Anophthalmia plus syndrome

http://www.orpha.net/ORDO/Orphanet_1104

Anophthalmia plus syndrome is a very rare multiple congenital anomaly syndrome characterized by the presence of anophthalmia or severe microphthalmia, cleft lip/palate, facial cleft and sacral neural tube defects, along with various additional anomalies including congenital glaucoma, iris coloboma, primary hyperplastic vitreous, hypertelorism, low-set ears, clinodactyly, choanal atresia/stenosis, dysgenesis of sacrum, tethering of spinal cord, syringomyelia, hypoplasia of corpus callosum, cerebral ventriculomegaly and endocrine abnormalities. An autosomal recessive inheritance has been suggested.


parents

Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability


synonyms

Fryns microphthalmia syndrome

Anorectal malformation

http://www.orpha.net/ORDO/Orphanet_96346


parents

Genetic digestive tract malformation


children

Isolated anorectal malformation

Rectal duplication

Syndromic anorectal malformation

anorexia nervosa

http://www.ebi.ac.uk/efo/EFO_0004215

An eating disorder that is characterized by the lack or loss of APPETITE, known as ANOREXIA. Other features include excess fear of becoming OVERWEIGHT; BODY IMAGE disturbance; significant WEIGHT LOSS; refusal to maintain minimal normal weight; and AMENORRHEA. This disorder occurs most frequently in adolescent females. (APA, Thesaurus of Psychological Index Terms, 1994).


parents

eating disorder

Anotia

http://www.orpha.net/ORDO/Orphanet_93976

Anotia is a congenital malformation of the external ear and the most extreme form of microtia (see this term) characterized by the complete absence of the external ear and auditory canal, conductive hearing loss, attention deficit disorders and delayed language development.


parents

Inherited cancer-predisposing syndrome

Antecubital pterygium syndrome

http://www.orpha.net/ORDO/Orphanet_2987


parents

Genetic dermis disorder

Antenatal Bartter syndrome

http://www.orpha.net/ORDO/Orphanet_93604

Antenatal Bartter syndrome is a phenotypic variant of Bartter syndrome (see this term) presenting antenatally with maternal polyhydramnios, pre-term delivery and postnatally with polyuria, and nephrocalcinosis. Hypokalemic alkalosis, increased levels of plasma renin and aldosterone, low blood pressure and vascular resistance to angiotensin II are characteristically associated. Genotypically they comprise Type 1 and Type 2 Bartter syndrome


parents

Bartter syndrome


synonyms

Bartter syndrome, furosemide-amiloride type

Bartter syndrome, furosemide type

Hyperprostaglandin E syndrome

Antenatal multiminicore disease with arthrogryposis multiplex congenita

http://www.orpha.net/ORDO/Orphanet_178148


parents

Multiminicore myopathy

antenna

http://purl.obolibrary.org/obo/UBERON_0000972

The paired, usually multiple jointed, sensory organs articulating on the procephalic region of the head capsule; its highly versatile sensory structures are capable to detect the various environmental stimuli. In the context of Drosophila refers to they are the most anterior segmented sensory appendage of the head.


parents

appendage


synonyms

feeler

antennal disc

http://www.ebi.ac.uk/efo/EFO_0005103

Posterior portion of the eye-antennal disc. It gives rise to the adult antennal segments and the maxillary palp, as well as contributing to the head capsule.


parents

embryonic structure

antennal primordium1

http://www.ebi.ac.uk/efo/EFO_0000257

.


parents

animal developmental tissue


synonyms

antennal primordium

antennal primordium2

AntP1

AntP2

P3 AntOrg

antennal primordium2

http://www.ebi.ac.uk/efo/EFO_0000258


parents

animal developmental tissue


synonyms

wing disc-derived cell-line

anterior chamber depth measurement

http://www.ebi.ac.uk/efo/EFO_0005668

quantification of the depth of the anterior chamber of the eye as an indicator for eye disease such as primary angle closure glaucoma


parents

eye measurement

anterior endoderm anlage

http://www.ebi.ac.uk/efo/EFO_0000259


parents

animal developmental tissue


synonyms

Asn/A antEndo

anterior endoderm anlage in statu nascendi

http://www.ebi.ac.uk/efo/EFO_0000260


parents

animal developmental tissue


synonyms

A0antEndo

anterior endoderm primordium

http://www.ebi.ac.uk/efo/EFO_0000261


parents

animal developmental tissue


synonyms

antEndoP2

anterior lateral line ganglion

http://www.ebi.ac.uk/efo/EFO_0003683

The anterior lateral line ganglia develops from cranial ectodermal placodes and contain sensory neurons that innervate the anterior lateral line system.


parents

zebrafish component


synonyms

anterior lateral line ganglia

anterior lateral line nerve

http://www.ebi.ac.uk/efo/EFO_0003529

Cranial nerve which enters the brain between cranial nerves VI and VII and projects to a dorsal medullary area between cerebellum and vagal lobe. Contains afferents and sensory efferents to the anterior lateral line ganglia. From Neuroanatomy of the Zebrafish Brain.


parents

zebrafish component


synonyms

ALLn

nervi lineae lateralis anterioris

rostral lateral line nerve

anterior lateral line placode

http://www.ebi.ac.uk/efo/EFO_0003461


parents

zebrafish embryonic structure


synonyms

anterior lateral line placodes

anterior lateral line primordium

http://www.ebi.ac.uk/efo/EFO_0003710

A migrating group of cells originating from an anterior lateral line placode. The primordium deposits neuromasts and interneuromasts between them during its migration.


parents

zebrafish component


synonyms

anterior lateral line primordia

anterior lateral line system

http://www.ebi.ac.uk/efo/EFO_0003691

The anterior lateral line system develops from cranial ectodermal placodes, situated between the eye and the ear, that give rise to both the neuromasts and the anterior lateral line sensory nerves that innervate the neuromasts. The anterior lateral line system consists of small sensory patches (neuromasts) located superficially on the skin or just under the skin in fluid-filled canals on the head of all fishes and most amphibians and are innervated by several lateral line nerves, which project to the hindbrain. The anterior lateral line system is stimulated by local water displacements and vibrations, and detects propulsion of the fish through the water, as well as facilitating shoaling, prey capture, and predator and obstacle avoidance.


parents

zebrafish component

anterior lateral mesoderm

http://www.ebi.ac.uk/efo/EFO_0003702


parents

zebrafish component


synonyms

ALM

anterior lateral plate mesoderm

http://purl.obolibrary.org/obo/UBERON_0009881


parents

embryonic structure

zebrafish component


synonyms

ALPM

anterior midgut primordium

http://www.ebi.ac.uk/efo/EFO_0000262


parents

animal developmental tissue


synonyms

anterior midgut inclusive primordium

antMGP2

P2 antEndoP

anterior pancreatic bud

http://www.ebi.ac.uk/efo/EFO_0003464


parents

zebrafish embryonic structure


synonyms

ventral pancreatic anlage

Anterior polar cataract

http://www.orpha.net/ORDO/Orphanet_98988


parents

Non-syndromic congenital cataract


synonyms

Anterior subcapsular cataract

anterior silk gland

http://purl.obolibrary.org/obo/BTO_0001795


parents

silk gland

anterior spiracle specific anlage

http://www.ebi.ac.uk/efo/EFO_0000263


parents

animal developmental tissue

anther

http://www.ebi.ac.uk/efo/EFO_0005101

A collective plant organ structure (PO:0025007) that is the pollen-bearing part of a stamen (PO:0009029)


parents

stamen

anthrax infection

http://www.ebi.ac.uk/efo/EFO_0000778

A Bacillaceae infectious disease that results_in infection located_in skin, located_in lung or located_in gastrointestinal tract, has_agent Bacillus anthracis, transmitted_by contact with infected animals or animal products, transmitted_by airborne spores or transmitted_by ingestion of undercooked meat from infected animals and has_symptom skin ulcer, has_symptom nausea, has_symptom poor appetite, has_symptom bloody diarrhea, has_symptom fever or has_symptom shortness of breath.

A primary Bacillaceae infectious disease that results_in infection located_in skin, located_in lung lymph nodes or located_in gastrointestinal tract, has_agent Bacillus anthracis, transmitted_by contact with infected animals or animal products, transmitted_by airborne spores or transmitted_by ingestion of undercooked meat from infected animals and has_symptom skin ulcer, has_symptom nausea, has_symptom poor appetite, has_symptom bloody diarrhea, has_symptom fever or has_symptom shortness of breath.


parents

bacterial disease


synonyms

[X]Anthrax, unspecified

[X]Anthrax, unspecified (disorder)

Anthrax, unspecified

Anthrax (disorder)

anthrax disease

Anthrax NOS

Anthrax NOS (disorder)

Charbon

Infection due to Bacillus anthracis

Milzbrand

OTHER ANTHRAX MANIFEST

Other specified anthrax manifestations

Other specified anthrax manifestations (disorder)

Other specified manifestations of anthrax

Splenic fever

anthropometry

http://www.ebi.ac.uk/efo/EFO_0004302

Anthropometry is a measurement of the size, weight, and proportions of the human or other primate body.


parents

measurement


children

adipose tissue measurement

appendicular lean mass

body weights and measures

bone geometry

comprehensive strength index

fat body mass

lean body mass

muscle mass measurement


synonyms

anthropometric traits

anti-arrhythmia drug

http://purl.obolibrary.org/obo/CHEBI_38070


parents

drug role

antiatherogenic agent

http://purl.obolibrary.org/obo/CHEBI_50855


parents

drug role

antibacterial drug

http://purl.obolibrary.org/obo/CHEBI_36047


parents

drug role

anti-Bcl11a

http://www.ebi.ac.uk/efo/EFO_0005027

Anti-Bcl11a Antibody is used as B-cell lymphoma/leukemia 11A antibody Species: Human, Vertebrates Gene: BCL11A ENSG00000119866


parents

immunoprecipitate


synonyms

Bcl11a

antibiotic

http://purl.obolibrary.org/obo/CHEBI_22582

Substance produced by, and obtained from, certain living cells (especially bacteria, yeasts and moulds), or an equivalent synthetic substance, which is biostatic or biocidal at low concentrations to some other form of life, especially pathogenic or noxious organisms.


parents

toxin


children

vancomycin


synonyms

antibiotics

Antibiotika

Antibiotikum

antibiotique

antibody

http://www.ebi.ac.uk/efo/EFO_0000264

An antibody function (or antigen binding function) is an infection-fighting protein molecule in blood or secretory fluids that tags, neutralizes, and helps destroy pathogenic microorganisms such as bacteria, viruses and toxins.


parents

molecular function


synonyms

antibodies

http://mged.sourceforge.net/ontologies/MGEDOntology.owl#antibody

antibody measurement

http://www.ebi.ac.uk/efo/EFO_0004556

Is the quantification of some antibody


parents

measurement


children

anti-cyclic citrullinated peptide antibody measurement

antiphospholipid antibody measurement

autoantibody measurement

rheumatoid factor measurement

serum IgA measurement

serum IgE measurement

serum IgG measurement

thyroid peroxidase antibody measurement

antibody secreting cell

http://purl.obolibrary.org/obo/CL_0000946


parents

lymphocyte of B lineage


children

plasma cell

anti-CD28

http://www.ebi.ac.uk/efo/EFO_0003304


parents

protein

anti-CD3

http://www.ebi.ac.uk/efo/EFO_0003317


parents

protein

anticholesteremic drug

http://purl.obolibrary.org/obo/CHEBI_35821

A substance used to lower plasma cholesterol levels.


parents

drug role


synonyms

anticholesteremic

anticholesteremic agent

anticholesteremic drugs

cholesterol inhibitor

hypocholesteremic agent

anticoagulant

http://purl.obolibrary.org/obo/CHEBI_50249

An agent that prevents blood clotting.


parents

drug role


synonyms

anticoagulante

anticoagulants

anticonvulsant

http://purl.obolibrary.org/obo/CHEBI_35623

A drug used to prevent seizures or reduce their severity.


parents

drug

chemical role


synonyms

anticonvulsants

anticonvulsive agent

antiepileptic

antiepileptics

Antiepileptika

Antiepileptikum

antiepileptique

antiepileptiques

Antikonvulsiva

Antikonvulsivum

anti-CTCF

http://www.ebi.ac.uk/efo/EFO_0005034

Anti-CTCF antibody Species: Human, Mouse, Rat, Primate, Canine (depends on vendor) Gene: CTCF ENSG00000102974


parents

immunoprecipitate

anti-cyclic citrullinated peptide antibody measurement

http://www.ebi.ac.uk/efo/EFO_0004733

Is a quantification of anti-cyclic citrullinated peptide antibody, these are associated with rheumatoid arthritis.


parents

antibody measurement

antidepressant

http://purl.obolibrary.org/obo/CHEBI_35469


parents

drug role

antiemetic

http://purl.obolibrary.org/obo/CHEBI_50919

A drug used to prevent nausea or vomiting. An antiemetic may act by a wide range of mechanisms: it might affect the medullary control centers (the vomiting center and the chemoreceptive trigger zone) or affect the peripheral receptors.


parents

drug role


synonyms

antiemetico

antiemetics

antifungal drug

http://purl.obolibrary.org/obo/CHEBI_35718

A substance that destroys fungi by suppressing their ability to grow or reproduce. Antifungal drugs differ from industrial fungicides in that they defend against fungi present in human or animal tissues.


parents

drug role


synonyms

antifungal agent

antifungal drugs

antigen profiling

http://www.ebi.ac.uk/efo/EFO_0000747

An assay where an antigen array is used (antigens deposited on the array) to detect, quantify or otherwise analyse antibodies in solution.


parents

protein assay

ArrayExpress experiment type

anti-H3K27-3Me

http://www.ebi.ac.uk/efo/EFO_0005028

Anti-trimethyl-Histone H3 (Lys27) Antibody Species: Human, Mouse Gene: HIST3H3 ENSG00000168148


parents

immunoprecipitate


synonyms

H3K27-3Me

anti-H3k4-3Me

http://www.ebi.ac.uk/efo/EFO_0005029

Anti-trimethyl-Histone H3 (Lys4) Antibody Species: Human, Vertebrates Gene: HIST3H3 ENSG00000168148


parents

immunoprecipitate


synonyms

H3k4-3Me

anti-Heliobacter pylori serum IgG measurement

http://www.ebi.ac.uk/efo/EFO_0005247

measurement of the IgG antibody isotype produced by plasma cells in response to a Heliobacter pylori infection


parents

serum IgG measurement

anti-IgG

http://www.ebi.ac.uk/efo/EFO_0005030

Anti-IgG Antibody. Immunoglobulin G antibodies are available in different forms on the market. General features: activate mammalian complements, bind to protein A or protein G.


parents

immunoprecipitate


synonyms

IgG

anti-inflammatory drug

http://purl.obolibrary.org/obo/CHEBI_35472

A substance that reduces or suppresses inflammation.


parents

drug role


synonyms

anti-inflammatory agent

anti-inflammatory drugs

antilipemic drug

http://purl.obolibrary.org/obo/CHEBI_35679

A substance used to treat hyperlipidemia (an excess of lipids in the blood).


parents

drug role


synonyms

antihyperlipemic

antihyperlipidemic

antilipemic

antilipemic drugs

hypolipidemic agent

antimalarial

http://purl.obolibrary.org/obo/CHEBI_38068


parents

drug role

antimanic drug

http://purl.obolibrary.org/obo/CHEBI_35477

Antimanic drugs are agents used to treat bipolar disorders or mania associated with other affective disorders.


parents

drug role


synonyms

antimanic agent

antimanic drugs

antimanics

antimetabolite role

http://purl.obolibrary.org/obo/CHEBI_35221

Substance, structurally similar to a metabolite, which competes with it or replaces it, and so prevents or reduces its normal utilization.


parents

chemical role


synonyms

antimetabolites

antimony(0)

http://purl.obolibrary.org/obo/CHEBI_30304


parents

chemical compound


synonyms

antimony

Antimony, metallic

antimony(0)

Sb

Sb(0)

Sbn

Stibium metallicum

anti-Mullerian hormone measurement

http://www.ebi.ac.uk/efo/EFO_0004769

Is a quantification of anti_Mullerian hormone, and is used as a biomarker of ovarian reserve. The AMH is produced by the granulosa cells of the early developing antral follicles. These are the immature eggs that wake up from their dormant state and develop into mature eggs. As the number of oocytes decline, the number of small antral follicles decline in number and the serum Anti-Mullerian hormone level falls.


parents

hormone measurement


synonyms

anti-Mullerian hormone level

anti-Mullerian hormone levels

antimycin A

http://purl.obolibrary.org/obo/CHEBI_22584

A nine-membered bis-lactone having methyl substituents at the 2- and 6-positions, an n-hexyl substituent at the 8-position, an acyloxy substituent at the 7-position and an aroylamido substituent at the 3-position. It is produced by Streptomyces bacteria and has found commercial use as a fish poison.


parents

chemical compound


synonyms

(2R,3S,6S,7R,8R)-3-[(3-formamido-2-hydroxybenzoyl)amino]-8-hexyl-2,6-dimethyl-4,9-dioxo-1,5-dioxonan-7-yl 3-methylbutanoate

[H]C(=O)Nc1cccc(C(=O)N[C@H]2[C@@H](C)OC(=O)[C@H](CCCCCC)[C@@H](OC(=O)CC(C)C)[C@H](C)OC2=O)c1O

Antimycin A1

antimycin A1b

Antipiricullin

C28H40N2O9

Fintrol

InChI=1/C28H40N2O9/c1-6-7-8-9-11-20-25(39-22(32)14-16(2)3)18(5)38-28(36)23(17(4)37-27(20)35)30-26(34)19-12-10-13-21(24(19)33)29-15-31/h10,12-13,15-18,20,23,25,33H,6-9,11,14H2,1-5H3,(H,29,31)(H,30,34)/t17-,18+,20-,23+,25+/m1/s1/f/h29-30H

InChIKey=UIFFUZWRFRDZJC-MBZNLELHDN

Virosin

antinematodal drug

http://purl.obolibrary.org/obo/CHEBI_35444

A substance used in the treatment or control of nematode infestations.


parents

drug role


synonyms

antinematodal agent

antinematodal drugs

antinematodals

antineoplastic agent

http://purl.obolibrary.org/obo/CHEBI_35610

A substance that inhibits or prevents the proliferation of neoplasms.


parents

drug role


synonyms

antineoplastic

antineoplastic agents

antineoplastic drug

cytostatic

anti-neutrophil antibody associated vasculitis

http://www.ebi.ac.uk/efo/EFO_0004826

Group of systemic vasculitis with a strong association with ANCA. The disorders are characterized by necrotizing inflammation of small and medium size vessels, with little or no immune-complex deposits in vessel walls.


parents

autoimmune disease

antioxidant

http://purl.obolibrary.org/obo/CHEBI_22586

A substance that opposes oxidation or inhibits reactions brought about by dioxygen or peroxides.


parents

chemical role


synonyms

antioxidants

antioxydant

antoxidant role

antioxidant measurement

http://www.ebi.ac.uk/efo/EFO_0005119

quantification of some antioxidant in a biological sample


parents

measurement

antiphospholipid antibody measurement

http://www.ebi.ac.uk/efo/EFO_0005200

Quantification of antiphospholipid antibodies in a biological sample, usually a blood sample. Antiphospholipid antibodies include anticardiolipin antibodies (ACL), lupus anticoagulant (LAC), and anti- ? 2 glycoprotein I antibodies (anti- ? 2GPI).They can be an indicator of antiphospholipid syndrome


parents

antibody measurement

antiprogestin

http://www.ebi.ac.uk/efo/EFO_0002673

An antiprogestogen, also called an antiprogesterone or in the case of a synthetic agent, an antiprogestin, is a type of hormone antagonist in which that antagonizes or suppresses the actions of progesterone in the body, a sex hormone that plays a role in the menstrual cycle and pregnancy. Antiprogestogens may stop some cancer cells from growing and they are being studied in the treatment of breast cancer. An example of an antiprogestogen is mifepristone.[1][2


parents

drug


synonyms

Org 31710

antipsychotic drug

http://purl.obolibrary.org/obo/CHEBI_35476

Antipsychotic drugs are agents that control agitated psychotic behaviour, alleviate acute psychotic states, reduce psychotic symptoms, and exert a quieting effect.


parents

drug role


synonyms

antipsychotic

antipsychotic agents

antipsychotic drugs

antipsychotics

antipsychotiques

grosser Tranquilizer

major tranquilizers

major tranquilizing agents

neuroleptic

neuroleptic agents

neuroleptics

Neuroleptikum

neuroleptique

neuroleptiques

anti-psychotic drug related weight gain

http://www.ebi.ac.uk/efo/EFO_0004567

The process of increasing body mass during treatment with an antipsychotic drug. http://ajp.psychiatryonline.org/article.aspx?articleid=173781


parents

body weight gain

antipyretic

http://purl.obolibrary.org/obo/CHEBI_35493

A drug that prevents or reduces fever by lowering the body temperature from a raised state. An antipyretic will not affect the normal body temperature if one does not have fever. Antipyretics cause the hypothalamus to override an interleukin-induced increase in temperature. The body will then work to lower the temperature and the result is a reduction in fever.


parents

drug role

antirheumatic drug

http://purl.obolibrary.org/obo/CHEBI_35842

A drug used to treat rheumatoid arthritis.


parents

drug


synonyms

antirheumatic agent

antirheumatic drugs

anti-rheumatic drugs

antiseptic drug

http://purl.obolibrary.org/obo/CHEBI_48218


parents

drug role

anti-social behavior

http://www.ebi.ac.uk/efo/EFO_0004890


parents

behavior

antispasmodic

http://purl.obolibrary.org/obo/CHEBI_53784


parents

drug role

antiviral

http://purl.obolibrary.org/obo/CHEBI_22587


parents

drug role

Antley-Bixler syndrome

http://www.orpha.net/ORDO/Orphanet_83


parents

Syndromic craniosynostosis

Genetic multiple congenital anomalies/dysmorphic syndrome - variable intellectual disability

anxiety

http://www.ebi.ac.uk/efo/EFO_0005230

Apprehension of danger and dread accompanied by restlessness, tension, tachycardia, and dyspnea unattached to a clearly identifiable stimulus.


parents

mental or behavioural disorder

aorta

http://purl.obolibrary.org/obo/UBERON_0000947

Artery carrying blood from the heart to all the organs and other structures of the body, bringing oxygenated blood to all parts of the body in the systemic circulation


parents

blood vessel


children

disturbed flow regions

undisturbed flow regions


synonyms

arteria maxima

dorsal aorta

trunk of aortic tree

trunk of systemic arterial tree

aorta endothelium

http://purl.obolibrary.org/obo/UBERON_0004851

An endothelium that is part of an aorta [Automatically generated definition].


parents

endothelium


synonyms

adult aorta endothelium

endothelium of adult aorta

endothelium of aorta

endothelium of trunk of aortic tree

endothelium of trunk of systemic arterial tree

trunk of aortic tree endothelium

trunk of systemic arterial tree endothelium

aorta smooth muscle

http://www.ebi.ac.uk/efo/EFO_0002775


parents

smooth muscle


synonyms

aortic smooth muscle

aortic smooth muscle cell

aortic aneurysm

http://www.ebi.ac.uk/efo/EFO_0001666

An abnormal balloon- or sac-like dilatation in the wall of AORTA.

a protruding sac formed by the dilation of the wall of the aorta resulting from a weakening of the vessel wall

protruding sac formed by dilation of the aorta


parents

aortic disease


children

Abdominal Aortic Aneurysm

thoracic aortic aneurysm


synonyms

Aneurysm, Aortic

Aneurysms, Aortic

Aortic Aneurysms

aortic arch

http://purl.obolibrary.org/obo/UBERON_0004363

One of a series of paired embryological vascular structures formed within a pharyngeal arch; in the adult, some of these vessels give rise to the great vessels[MP]


parents

artery

embryonic structure

zebrafish component


synonyms

a. arcuum pharyngeorum

aortic arches

arteriae arcuum pharyngeorum

branchial aortic arches

branchial arch artery

embryonic aortic arch artery

pharyngeal arch artery

Aortic arch anomaly - peculiar facies - intellectual disability

http://www.orpha.net/ORDO/Orphanet_1110


parents

Multiple congenital anomalies/dysmorphic syndrome-intellectual disability

Rare genetic intellectual disability with developmental anomaly

aortic disease

http://www.ebi.ac.uk/efo/EFO_0005775


parents

vascular disease


children

aortic aneurysm

aortic stenosis

Familial aortic dissection

Generalized arterial calcification of infancy

phenotypic abnormality of the aorta

aortic root size

http://www.ebi.ac.uk/efo/EFO_0005037

The aortic root size is the size of the part of the ascending aorta beginning at the aortic annulus and extending to the sinotubular junction


parents

measurement

aortic stenosis

http://www.ebi.ac.uk/efo/EFO_0000266

Aortic valve stenosis is a aortic valve disease caused by the incomplete opening of the aortic valve. The aortic valve controls the direction of blood flow from the left ventricle to the aorta. When in good working order, the aortic valve does not impede the flow of blood between these two spaces. Under some circumstances, the aortic valve becomes narrower than normal, impeding the flow of blood. This is known as aortic valve stenosis, or aortic stenosis, often abbreviated AS.

Aortic valve stenosis is a aortic valve disease caused by the incomplete opening of the aortic valve. The aortic valve controls the direction of blood flow from the left ventricle to the aorta. When in good working order, the aortic valve does not impede the flow of blood between these two spaces. Under some circumstances, the aortic valve becomes narrower than normal, impeding the flow of blood. This is known as aortic valve stenosis, or aortic stenosis, often abbreviated as AS.

A pathological constriction that can occur above (supravalvular stenosis), below (subvalvular stenosis), or at the AORTIC VALVE. It is characterized by restricted outflow from the LEFT VENTRICLE into the AORTA.


parents

aortic disease


synonyms

Aortic Valve Stenoses

Aortic Valve Stenosis

Aortic valve stenosis, NOS

Aortic valve stenosis (disorder)

AS

AS - Aortic stenosis

Stenosed aortic valve

Stenoses, Aortic

Stenoses, Aortic Valve

Stenosis, Aortic

Stenosis, Aortic Valve

Valve Stenoses, Aortic

Valve Stenosis, Aortic

aortic valve

http://purl.obolibrary.org/obo/UBERON_0002137

Cardiac valve which has as its parts the anterior, right posterior and left posterior cusps, attached to the fibrous ring of aortic valve.[FMA]


parents

heart component


synonyms

valva aortae

aortic valve calcification

http://www.ebi.ac.uk/efo/EFO_0005239

calcification of the aortic valve


parents

heart disease

APC-related attenuated familial adenomatous polyposis

http://www.orpha.net/ORDO/Orphanet_247806


parents

Attenuated familial adenomatous polyposis


synonyms

APC-related AFAP

APC-related attenuated familial polyposis coli

APC-related attenuated FAP

Apert syndrome

http://www.orpha.net/ORDO/Orphanet_87

Apert syndrome (AS) is a frequent form of acrocephalosyndactyly (see this term), a group of rare genetic syndromes, and is characterized by craniosynostosis, midface hypoplasia, and finger and toe anomalies and/or syndactyly.


parents

Pierre Robin syndrome associated with bone disease

Acrocephalosyndactyly

Craniostenosis associated with a strabismus


synonyms

Acrocephalosyndactyly type 1

ACS1

Aphalangy - hemivertebrae - urogenital-intestinal dysgenesis

http://www.orpha.net/ORDO/Orphanet_1112


parents

Genetic syndrome with limb reduction defects


synonyms

Johnson-Munson syndrome

Aphalangy - syndactyly - microcephaly

http://www.orpha.net/ORDO/Orphanet_1113


parents

Syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy

Genetic syndrome with limb reduction defects

aphidicolin

http://purl.obolibrary.org/obo/CHEBI_2766


parents

chemical compound


synonyms

(3R,4R,4aR,6aS,8R,9R,11aS,11bS)-4,9-bis(hydroxymethyl)-4,11b-dimethyltetradecahydro-8,11a-methanocyclohepta[a]naphthalene-3,9-diol

Aphidicolin

C20H34O4

Aphonia - deafness - retinal dystrophy - bifid halluces - intellectual disability

http://www.orpha.net/ORDO/Orphanet_324540


parents

Multiple congenital anomalies/dysmorphic syndrome-intellectual disability

Rare genetic intellectual disability with developmental anomaly


synonyms

Aphonia - deafness - retinal dystrophy - duplicated halluces - intellectual disability

aphthous ulcer

http://www.ebi.ac.uk/efo/EFO_0003938

A recurrent disease of the oral mucosa of unknown etiology. It is characterized by small white ulcerative lesions, single or multiple, round or oval. Two to eight crops of lesions occur per year, lasting for 7 to 14 days and then heal without scarring. (From Jablonski's Dictionary of Dentistry, 1992, p742)


parents

head disease


synonyms

Aphthae

Aphthous Stomatitides

Aphthous Stomatitis

Aphthous Ulcers

aphtous stomatitis

Canker Sore

Canker Sores

Periadenitis Mucosa Necrotica Recurrens

Sore, Canker

Sores, Canker

Stomatitides, Aphthous

Stomatitis, Aphthous

Ulcer, Aphthous

Ulcers, Aphthous

apical

http://www.ebi.ac.uk/efo/EFO_0001653

Apical is a geometric modifier describing the tip of a pyramidal or rounded structure. For example, lung apical.


parents

geometric modifier

apical ectodermal ridge dorsal fin

http://www.ebi.ac.uk/efo/EFO_0003488

Apical ectodermal ridge that is part of the dorsal fin.


parents

zebrafish component

apical ectodermal ridge pectoral fin bud

http://www.ebi.ac.uk/efo/EFO_0003487

Apical ectodermal ridge that is part of the pectoral fin bud.


parents

zebrafish component


synonyms

AER pectoral fin

apical ectodermal ridge pectoral fin

apical ectodermal ridge pectoral fin buds

apical ectodermal ridge pectoral fins

apical fold pectoral fin

apical ectodermal ridge pelvic fin bud

http://www.ebi.ac.uk/efo/EFO_0003681

Apical ectodermal ridge that is part of the pelvic fin bud.


parents

zebrafish component


synonyms

apical ectodermal ridge pelvic fin buds

apical meristem

http://www.ebi.ac.uk/efo/EFO_0000267

A group of cells at the tip of the stem and root that give rise by cell division to the primary tissues and are ultimately responsible for the structural organization of the entire primary plant body.


parents

shoot component


synonyms

GRO:0000231

apical root meristem

http://www.ebi.ac.uk/efo/EFO_0001009


parents

root structure

meristem


children

primary root apical meristem


synonyms

root apical meristem

root meristem - apical

apical shoot meristem

http://www.ebi.ac.uk/efo/EFO_0001017


parents

meristem

shoot


synonyms

shoot meristem - apical

Apis cerana

http://purl.obolibrary.org/obo/NCBITaxon_7461


parents

Eukaryota


synonyms

Apis cerena

Apis mellifera cerana

Asiatic honeybee

Easteren honeybee

Indian honeybee

oriental honeybee

Apis dorsata

http://purl.obolibrary.org/obo/NCBITaxon_7462


parents

Eukaryota


synonyms

Apis mellifera dorsata

giant honeybee

rock honeybee

Apis florea

http://purl.obolibrary.org/obo/NCBITaxon_7463


parents

Eukaryota


synonyms

Apis mellifera florea

dwarf honeybee

little honeybee

Apis mellifera

http://purl.obolibrary.org/obo/NCBITaxon_7460


parents

Eukaryota


synonyms

Apis mellifica

bee

honeybee

honey bee

Apis mellifera ligustica

http://purl.obolibrary.org/obo/NCBITaxon_7469


parents

Eukaryota


synonyms

Apis mellifera ligustica Spinola, 1806

common honeybee

common honey bee

Italian honeybee

Apis mellifera mellifera

http://purl.obolibrary.org/obo/NCBITaxon_44477


parents

Eukaryota


synonyms

Apis mellifera mellifera Linnaeus, 1758

German honeybee

Aplasia cutis congenita - intestinal lymphangiectasia

http://www.orpha.net/ORDO/Orphanet_1116


parents

Malformation syndrome with skin/mucosae involvement

Genetic intestinal disease

Genetic mixed dermis disorder

Syndromic lymphedema


synonyms

Autosomal recessive aplasia cutis

Bronspiegel-Zelnick syndrome

Aplasia cutis - myopia

http://www.orpha.net/ORDO/Orphanet_1117


parents

Malformation syndrome with skin/mucosae involvement

Genetic mixed dermis disorder

Syndromic myopia


synonyms

Gershoni-Baruch-Leibo syndrome

Aplasia of lacrimal and salivary glands

http://www.orpha.net/ORDO/Orphanet_86815

Aplasia of the lacrimal and salivary glands (ALSG) is a rare autosomal dominant disorder characterized by aplasia, atresia or hypoplasia of the lacrimal and salivary glands leading to varying features since infancy such as recurrent eye infections, irritable eyes, epiphora, xerostomia, dental caries, dental erosion and oral inflammation.


parents

Excretory apparatus of the lacrimal system anomaly


synonyms

ALSG

Congenital absence of lacrimal puncta and salivary glands

Aplysia californica

http://purl.obolibrary.org/obo/NCBITaxon_6500


parents

Eukaryota


synonyms

California sea hare

Apodia

http://www.orpha.net/ORDO/Orphanet_294986


parents

Terminal limb defects


children

Apodia, bilateral

Apodia, unilateral


synonyms

Absent foot

Apodia, bilateral

http://www.orpha.net/ORDO/Orphanet_295107


parents

Apodia


synonyms

Absent foot, bilateral

Apodia, unilateral

http://www.orpha.net/ORDO/Orphanet_295105


parents

Apodia


synonyms

Absent foot, unilateral

apolipoprotein A 1 measurement

http://www.ebi.ac.uk/efo/EFO_0004614

Is a quantification of serum lipoprotein A. Apolipoprotein A-I, encoded in humans by the APOA1 gene and is the major protein component of high density lipoprotein (HDL) in plasma. It is is implicated as a risk factor for atherosclerotic diseases such as coronary heart disease and stroke.


parents

lipoprotein measurement

inflammatory marker measurement


synonyms

lipoprotein A-1 levels

Serum amyloid A-1 protein levels

Apolipoprotein A-I deficiency

http://www.orpha.net/ORDO/Orphanet_425

Apolipoprotein AI (Apo A-I) deficiency is a rare lipoprotein metabolism disorder characterized biochemically by complete absence of apolipoprotein AI and extremely low plasma high density lipoprotein (HDL) cholesterol, and clinically by corneal opacities and xanthomas complicated with premature coronary heart disease (CHD).


parents

Hypoalphalipoproteinemia


synonyms

ApoA-I deficiency

Familial apoA-I deficiency

Familial hypoalphalipoproteinemia

apolipoprotein B measurement

http://www.ebi.ac.uk/efo/EFO_0004615

The measurement of ApoB in blood. Apolipoprotein B is a major protein constituent of chylomicrons (apo B-48), LDL (apo B-100) and VLDL (apo B-100). Apo B-100 functions as a recognition signal for the cellular binding and internalization of LDL particles by the apoB/E receptor, and is upregulated in response to enterovirus 71.


parents

lipoprotein measurement

apomorphine hydrochloride

http://purl.obolibrary.org/obo/CHEBI_31228

"A hydrate that has formula C34H38Cl2N2O5." []


parents

ionic salt


synonyms

(6aR)-5,6,6a,7-Tetrahydro-6-methyl-4H-dibenzo(de,g)chinolin-10,11-diol hydrochlorid

(6aR)-5,6,6a,7-Tetrahydro-6-methyl-4H-dibenzo(de,g)chinolin-10,11-diol hydrochlorid

6abeta-Aporphine-10,11-diol hydrochloride hemihydrate

6abeta-Aporphine-10,11-diol hydrochloride hemihydrate

Apmorphine hydrochloride hemihydrate

Apmorphine hydrochloride hemihydrate

Apomorphine HCl

Apomorphine HCl

Apomorphin hydrochlorid wasser (2/1)

Apomorphin hydrochlorid wasser (2/1)

R-(-)-apomorphine hydrochloride

apoplasm

http://www.ebi.ac.uk/efo/EFO_0001045

The fluid between the cell wall and the plasma membrane


parents

plant fluid


synonyms

apoplast

apoplast

http://purl.obolibrary.org/obo/GO_0048046


parents

cellular component

apoptotic amnioserosa

http://www.ebi.ac.uk/efo/EFO_0000268


parents

animal developmental tissue

apoptotic process

http://purl.obolibrary.org/obo/GO_0006915


parents

cell death

Apparent mineralocorticoid excess

http://www.orpha.net/ORDO/Orphanet_320

Apparent mineralocorticoid excess (AME) is a rare form of pseudohyperaldosteronism characterized by very early-onset and severe hypertension, associated with low renin levels and hypoaldosteronism.


parents

Genetic hypertension

Rare genetic adrenal disease


synonyms

11-beta-hydroxysteroid dehydrogenase deficiency type 2

Ulick syndrome

appendage

http://purl.obolibrary.org/obo/UBERON_0000026

Major subdivision of an organism that protrudes from the body[DOS, CARO].


parents

animal component


children

antenna

fin

foot

haltere

invertebrate limb

limb

wing


synonyms

extremitaet

extremity

limbs/digits/tail

appendiceal neoplasm

http://www.ebi.ac.uk/efo/EFO_0003880

Tumors or cancer of the APPENDIX.


parents

digestive system disease

neoplasm


synonyms

Appendiceal Cancer

APPENDICEAL NEOPL

Appendiceal Neoplasms

Appendix Cancer

Cancer, Appendiceal

Cancer, Appendix

Cancer of Appendix

Cancer of the Appendix

NEOPL APPENDICEAL

Neoplasm, Appendiceal

Neoplasms, Appendiceal

appendicular lean mass

http://www.ebi.ac.uk/efo/EFO_0004980

Appendicular lean mass is a measurement of skeletal strength of lower limbs and is used as a predictive measure of hip fracture.


parents

anthropometry

appendicular skeleton

http://purl.obolibrary.org/obo/UBERON_0002091

Subdivision of skeleton which which consists of all the skeletal elements in in the pectoral and pelvic appendage complexes[cjm].


parents

animal component


synonyms

appendicular skeleton

entire appendicular skeleton

paired fin skeleton

skeleton appendiculare

appendix

http://www.ebi.ac.uk/efo/EFO_0000849

A narrow blind tube usually about three or four inches (7.6 to 10.2 centimeters) long that extends from the cecum in the lower right-hand part of the abdomen, has much lymphoid wall tissue, normally communicates with the cavity of the cecum, and represents an atrophied terminal part of the cecum.

Organ with organ cavity which is continuous proximally with the cecum and distally terminates in the tip of the appendix. Examples: There is only one appendix.


parents

animal component


synonyms

vermiform appendix

apratoxin A

http://purl.obolibrary.org/obo/CHEBI_35212

An apratoxin that has formula C45H69N5O8S.


parents

chemical compound


synonyms

(2S,3S,5S,7S,10S,16S,19S,22S,25E,27S)-16-[(2S)-butan-2-yl]-7-tert-butyl-3-hydroxy-22-(4-methoxybenzyl)-2,5,17,19,20,25-hexamethyl-8-oxa-29-thia-14,17,20,23,30-pentaazatricyclo[25.2.1.0(10,14)]triaconta-1(30),25-diene-9,15,18,21,24-pentone

[H]N1[C@@H](Cc2ccc(OC)cc2)C(=O)N(C)[C@@H](C)C(=O)N(C)[C@@H]([C@@H](C)CC)C(=O)N2CCC[C@H]2C(=O)O[C@@H](C[C@@H](C)C[C@H](O)[C@H](C)C2=N[C@H](CS2)\\C=C(C)\\C1=O)C(C)(C)C

7'''.1,4-anhydro(N-{3-[2-(3,7-dihydroxy-5,8,8-trimethylnonan-2-yl)-4,5-dihydro-1,3-thiazol-4-yl]-2-methylpropenoyl}-O-methyl-L-tyrosyl-N-methyl-L-alanyl-N-methyl-L-isoleucyl-L-proline)

C45H69N5O8S

InChI=1/C45H69N5O8S/c1-13-27(3)38-43(55)50-20-14-15-35(50)44(56)58-37(45(7,8)9)22-26(2)21-36(51)29(5)40-46-32(25-59-40)23-28(4)39(52)47-34(24-31-16-18-33(57-12)19-17-31)42(54)48(10)30(6)41(53)49(38)11/h16-19,23,26-27,29-30,32,34-38,51H,13-15,20-22,24-25H2,1-12H3,(H,47,52)/b28-23+/t26-,27-,29-,30-,32-,34-,35-,36-,37-,38-/m0/s1/f/h47H

InChIKey=KXUJXPZXILTXDA-WUCPXUHADD

N-((2E)-3-((4S)-4,5-dihydro-2-((1S,2S,4S,6S)-2,6-dihydroxy-1,4,7,7-tetramethyloctyl)-4-thiazolyl)-2-methyl-1-oxo-2-propenyl)-O-methyl-L-tyrosyl-N-methyl-L-alanyl-N-methyl-L-isoleucyl-L-proline (4-16)-lactone

Aprosencephaly cerebellar dysgenesis

http://www.orpha.net/ORDO/Orphanet_1126


parents

Midline cerebral malformation

Aptenodytes patagonicus

http://purl.obolibrary.org/obo/NCBITaxon_9234


parents

Eukaryota


synonyms

Aptenodytes patagonica

king penguin

Aquilegia formosa

http://purl.obolibrary.org/obo/NCBITaxon_223430


parents

Viridiplantae


synonyms

Aquilegia formosa Fisch. ex DC.

Arabidopsis

http://purl.obolibrary.org/obo/NCBITaxon_3701


parents

Viridiplantae


children

Arabidopsis arenosa

Arabidopsis arenosa x Arabidopsis thaliana

Arabidopsis halleri

Arabidopsis lyrata

Arabidopsis suecica

Arabidopsis thaliana


synonyms

Cardaminopsis

Arabidopsis arenosa

http://purl.obolibrary.org/obo/NCBITaxon_38785


parents

Arabidopsis


synonyms

Arabis arenosa

Cardaminopsis arenosa

Arabidopsis arenosa x Arabidopsis thaliana

http://purl.obolibrary.org/obo/NCBITaxon_378006


parents

Arabidopsis

Arabidopsis halleri

http://purl.obolibrary.org/obo/NCBITaxon_81970


parents

Arabidopsis


synonyms

Arabidopsis halleri (L.) O'Kane & Al-Shehbaz

Arabidopsis lyrata

http://purl.obolibrary.org/obo/NCBITaxon_59689


parents

Arabidopsis


children

Arabidopsis lyrata subsp. petraea


synonyms

Arabidopsis lyrata (L.) O'Kane & Al-Shehbaz

lyrate rockcress

Arabidopsis lyrata subsp. petraea

http://purl.obolibrary.org/obo/NCBITaxon_59691


parents

Arabidopsis lyrata


synonyms

Arabidopsis lyrata subsp. petraea (L.) O'Kane & Al-Shehbaz

Arabidopsis petraea

Arabidopsis petraea (L.) V.I.Dorof.

Cardaminopsis petraea

Cardaminopsis petraea (L.) Hiitonen

Arabidopsis suecica

http://purl.obolibrary.org/obo/NCBITaxon_45249


parents

Arabidopsis


synonyms

Arabidopsis suecica (Fries) Norrl.

Arabis suecica

Arabis suecica Fries.

Cardaminopsis suecica

Cardaminopsis suecica (Fries) Hiitonen

Hylandra suecica

Hylandra suecica A.Love

Arabidopsis thaliana

http://purl.obolibrary.org/obo/NCBITaxon_3702


parents

Arabidopsis


children

Bayreuth ecotype

Blanes ecotype

Bologna ecotype

Burren ecotype

Calver ecotype

Coimbra ecotype

Columbia ecotype

CS57511

CS57512

CS57515

CS57520

CS57521

CS57537

CS57541

CS57543

CS57544

CS57548

CS57549

CS57551

CS57556

CS57560

CS57563

CS57569

CS57570

CS57572

CS57580

CS57581

CS57583

CS57586

CS57587

CS57591

CS57595

CS57596

CS57598

CS57601

CS57603

CS57606

CS57610

CS57615

CS57616

CS57618

CS57619

CS57620

CS57621

CS57622

CS57624

CS57625

CS57626

CS57627

CS57628

CS57629

CS57630

CS57631

CS57637

CS57641

CS57644

CS57646

CS57648

CS57655

CS57658

CS57660

CS57663

CS57664

CS57666

CS57671

CS57677

CS57691

CS57692

CS57699

CS57701

CS57704

CS57705

CS57706

CS57709

CS57710

CS57714

CS57715

CS57716

CS57717

CS57719

CS57722

CS57727

CS57731

CS57732

CS57733

CS57735

CS57737

CS57740

CS57742

CS57743

CS57750

CS57751

CS57752

CS57753

CS57758

CS57769

CS57770

CS57771

CS57776

CS57777

CS57778

CS57779

CS57783

CS57785

CS57789

CS57790

CS57801

CS57803

CS57807

CS57810

CS57811

CS57812

CS57813

CS57816

CS57820

CS57822

CS57823

CS57824

CS57825

CS57826

CS57827

CS57828

CS57834

CS57835

CS57836

CS57840

CS57842

CS57843

CS57847

CS57848

CS57850

CS57854

CS57858

CS57859

CS57867

CS57870

CS57871

CS57873

CS57874

CS57875

CS57876

CS57883

CS57884

CS57886

CS57890

CS57896

CS57901

CS57904

CS57905

CS57908

CS57923

CS57924

CS8581

Landsberg ecotype

SALK_037727

SALK_049497

San Eleno ecotype

Umkirch ecotype

Wassilewskija ecotype


synonyms

Arabidopsis thaliana (thale cress)

Arbisopsis thaliana

mouse-ear cress

thale cress

thale-cress

Arabis mosaic virus

http://purl.obolibrary.org/obo/NCBITaxon_12271


parents

Virus


synonyms

AMV

nepovirus arabis mosaic virus ArMV

arachidonic acid

http://purl.obolibrary.org/obo/CHEBI_15843


parents

acid


synonyms

(5Z,8Z,11Z,14Z)-5,8,11,14-icosatetraenoic acid

(5Z,8Z,11Z,14Z)-icosa-5,8,11,14-tetraenoic acid

(5Z,8Z,11Z,14Z)-Icosatetraenoic acid

AA

all-cis-5,8,11,14-eicosatetraenoic acid

ARA

Arachidonic acid

ARACHIDONIC ACID

Arachidonsaeure

C20H32O2

cis-5,8,11,14-Eicosatetraenoic acid

cis-Delta(5,8,11,14)-eicosatetraenoic acid

Arachis hypogaea

http://purl.obolibrary.org/obo/NCBITaxon_3818


parents

Viridiplantae


synonyms

Arachis hypogea

goober

ground-nut

peanut

Arachnodactyly - abnormal ossification - intellectual disability

http://www.orpha.net/ORDO/Orphanet_1129


parents

Multiple congenital anomalies/dysmorphic syndrome-intellectual disability

Rare genetic intellectual disability with developmental anomaly


synonyms

Kosztolanyi syndrome

Arachnodactyly - intellectual disability - dysmorphism

http://www.orpha.net/ORDO/Orphanet_1130


parents

Genetic multiple congenital anomalies/dysmorphic syndrome - variable intellectual disability


synonyms

De Die-Smulders-Vles-Fryns syndrome

Arachnoid cyst

http://www.orpha.net/ORDO/Orphanet_2356


parents

Genetic non-syndromic central nervous system malformation

Ara-C-resistant murine leukemia

http://www.ebi.ac.uk/efo/EFO_0002032

An Ara-C-resistant murine leukemia is a cell line. A b117h, and a b140h are kinds of Ara-C-resistant murine leukemias.


parents

mouse cell line


children

B117H

B140H

Ara-C-sensitive parental cell line

http://www.ebi.ac.uk/efo/EFO_0002033


parents

mouse cell line


children

B117P

B140P

Archaea

http://purl.obolibrary.org/obo/NCBITaxon_2157


parents

organism


children

Ferroglobus placidus

Halobacterium salinarum

Halobacterium sp. NRC-1

Haloferax volcanii

Metallosphaera sedula

Methanobacteria

Methanobacterium

Methanobacterium congolense

Methanobrevibacter ruminantium

Methanobrevibacter smithii

Methanobrevibacter smithii ATCC 35061

Methanococcoides burtonii

Methanococcus

Methanococcus maripaludis

Methanococcus maripaludis S2

Methanosarcina barkeri

Methanosarcina mazei

Pyrobaculum aerophilum

Pyrococcus furiosus

Pyrococcus furiosus DSM 3638

Sulfolobus acidocaldarius

Sulfolobus acidocaldarius DSM 639

Sulfolobus solfataricus

Sulfolobus solfataricus P2

Thermoplasma acidophilum DSM 1728

Thermoproteus tenax


synonyms

archaea

Archaebacteria

Mendosicutes

Metabacteria

Monera

Procaryotae

Prokaryota

Prokaryotae

prokaryotes

area

http://www.ebi.ac.uk/efo/EFO_0001696

A 2-D extent quality inhering in a bearer by virtue of the bearer's two dimensional extent.

An area is a size quality which describes the two dimensional extent of a material entity.


parents

size

area unit

http://purl.obolibrary.org/obo/UO_0000047

A derived unit which is a standard measure of the amount of a 2-dimensional flat surface.

An area unit is a derived unit which is a standard measure of the amount of a 2-dimensional flat surface.

A unit which is a standard measure of the amount of a 2-dimensional flat surface.


parents

derived unit


children

square meter

AREDYLD syndrome

http://www.orpha.net/ORDO/Orphanet_1133


parents

Rare genetic diabetes mellitus

Ectodermal dysplasia syndrome

Syndromic renal or urinary tract malformation


synonyms

Acrorenal defect - ectodermal dysplasia - diabetes

Arginine:glycine amidinotransferase deficiency

http://www.orpha.net/ORDO/Orphanet_35704

L-Arginine:glycine amidinotransferase (AGAT) deficiency is an autosomal recessive disorder of creatine biosynthesis (see this term) described in 7 patients to date and characterized by a mild to moderate intellectual disability, usually without pyramidal/extrapyramidal and behavioral problems. Early diagnosis and treatment with oral doses of creatine monohydrate supplementation appears successful in the prevention of AGAT deficiency manifestations.


parents

Neurometabolic disease

Disorder of creatine biosynthesis

Argininemia

http://www.orpha.net/ORDO/Orphanet_90

Arginase deficiency is a rare autosomal recessive amino acid metabolism disorder characterized clinically by variable degrees of hyperammonemia, developing from about 3 years of age, and leading to progressive loss of developmental milestones and spasticity in the absence of treatment.


parents

Disorder of urea cycle metabolism and ammonia detoxification


synonyms

Arginase deficiency

Hyperargininemia

Argininosuccinic aciduria

http://www.orpha.net/ORDO/Orphanet_23

Arginosuccinicaciduria is an autosomal recessive inherited deficiency of arginosuccinate lyase, an enzyme involved in the urea cycle that leads to severe hyperammonemic coma in neonates or, in childhood, to hypotonia, growth failure, anorexia and chronic vomiting or behavioral disorders. Onset can also occur later with hyperammonemic coma or behavioral disorders that simulate psychiatric disorders.


parents

Disorder of urea cycle metabolism and ammonia detoxification


synonyms

Argininosuccinase deficiency

ARH77

http://www.ebi.ac.uk/efo/EFO_0002111

An arh77 is a cell line. An arh77 is both something that is bearer of a plasma cell neoplasm, and something that derives from a lymphatic system.


parents

cancer cell line

haemopoietic system cell line

Aristolochia fimbriata

http://purl.obolibrary.org/obo/NCBITaxon_158543


parents

Viridiplantae


synonyms

Aristolochia fimbriata Cham.

aristolochic acid

http://purl.obolibrary.org/obo/CHEBI_2825


parents

acid


synonyms

3,4-methylenedioxy-8-methoxy-10-nitro-1-phenanthrenecarboxylic acid

8-methoxy-6-nitrophenanthol (3,4-d) 1,3-dioxole-5-carboxylic acid

8-methoxy-6-nitrophenanthro[3,4-d][1,3]dioxole-5-carboxylic acid

Aristolochic acid

aristolochic acid A

Aristolochic acid I

aristolochic acid-I

aristolochin

C17H11NO7

arm

http://www.ebi.ac.uk/efo/EFO_0001410

A human upper limb; especially: the part between the shoulder and the wrist.

The portion of the upper extremity between the shoulder and the elbow. For clinical purposes this term is also used to refer to the whole superior limb.


parents

limb


children

forearm

arm span

http://www.ebi.ac.uk/efo/EFO_0005108

Distance between the tips of the longest fingers with the arms maximally outstretched laterally.


parents

body weights and measures

Arnold-Chiari malformation type I

http://www.orpha.net/ORDO/Orphanet_268882


parents

Malformation of the neurenteric canal, spinal cord and column


synonyms

Arnold-Chiari malformation type 1

Chiari malformation type 1

Chiari malformation type I

Arnold-Chiari malformation type II

http://www.orpha.net/ORDO/Orphanet_1136


parents

Spina bifida cystica


synonyms

Arnold-Chiari malformation type 2

Chiari malformation type 2

Chiari malformation type II

Aroclor 1254

http://purl.obolibrary.org/obo/CHEBI_63933


parents

chemical compound


synonyms

C12

Chlorierte biphenyle, chlorgehalt 54%

Chlorodiphenyl (54% Chlorine)

Diphenyle chlore, 54% de chlore

Polychlorobiphenyls (54% chlorine)

Aromatase deficiency

http://www.orpha.net/ORDO/Orphanet_91

Aromatase deficiency disrupts the synthesis of estradiol, resulting in hirsutism of mothers during gestation of an affected child; pseudohermaphroditism and virilization in women; and tall stature, osteoporosis and obesity in men.


parents

46,XX disorder of sex development induced by fetoplacental androgens excess

Rare male infertility due to hypothalamic-pituitary-gonadal axis disorder of genetic origin

Rare female infertility due to hypothalamic-pituitary-gonadal axis disorder of genetic origin

Non-acquired premature ovarian failure


synonyms

Congenital estrogen deficiency

Aromatase excess syndrome

http://www.orpha.net/ORDO/Orphanet_178345


parents

Anomaly of puberty or/and menstrual cycle of genetic origin


synonyms

AEXS

Familial hyperestrogenism

Hereditary prepubertal gynecomastia

aromatase inhibitor

http://purl.obolibrary.org/obo/CHEBI_50790


parents

enzyme inhibitor


synonyms

aromatase inhibitors

aromatic compound biosynthetic process

http://purl.obolibrary.org/obo/GO_0019438


parents

cellular aromatic compound metabolic process

cellular biosynthetic process


children

nucleobase-containing compound biosynthetic process

purine-containing compound biosynthetic process

Aromatic L-amino acid decarboxylase deficiency

http://www.orpha.net/ORDO/Orphanet_35708


parents

Disorder of catecholamine synthesis

Neurometabolic disease


synonyms

AADC deficiency

array

http://www.ebi.ac.uk/efo/EFO_0002698

An instrument which consists of nucleic acid or protein molecules bound to a substrate


parents

instrument


children

DNA array

protein array


synonyms

microarray

array assay

http://www.ebi.ac.uk/efo/EFO_0002696

An assay which uses array based technology to determine information about nucleic acids or proteins


parents

assay by instrument


children

ChIP-chip by array

ChIP-chip by SNP array

ChIP-chip by tiling array

comparative genomic hybridization by array

genotyping by array

methylation profiling by array

microRNA profiling by array

proteomic profiling by array

RNAi profiling by array

tiling path by array

transcription profiling by array

transcription profiling by tiling array

translation profiling

array control biosequence

http://www.ebi.ac.uk/efo/EFO_0005433

An array design in which a reporter on an array associated with a BioSequence that has a context dependent predicted signal. e.g. a yeast reporter on a human array, is a control biosequence expected to be of low signal if no spikes are used. If spikes are used, the signal is expected to be high.


parents

array control design

array control buffer

http://www.ebi.ac.uk/efo/EFO_0005434

An array design in which an array contains a reporter where only buffer was deposited on the array, acting as a control.


parents

array control design

array control design

http://www.ebi.ac.uk/efo/EFO_0005440

An array design in which a reporter is used a control for reasons such as quality or result verifcation.


parents

array design


children

array control biosequence

array control buffer

array control empty

array control genomic DNA

array control hybridization quality

array control label

array control reporter size

array control spike calibration

array control empty

http://www.ebi.ac.uk/efo/EFO_0005435

An array design in which a reporter on an array has no material or buffer was deposited on the array.


parents

array control design

array control genomic DNA

http://www.ebi.ac.uk/efo/EFO_0005436

An array design in which a reporter has genomic DNA deposited on it; the genomic DNA may be fragmented, e.g. salmon sperm DNA, Cot1DNA.


parents

array control design

array control hybridization quality

http://www.ebi.ac.uk/efo/EFO_0005437

An array design in which a reporter is included that could be used to determine the quality and general performance of the labeled extract. An example is a pool of BioSequences representing widely-expressed genes (i.e., housekeeping genes).


parents

array control design

array control label

http://www.ebi.ac.uk/efo/EFO_0005438

An array design in which a reporter is used as a control where some label has been deposited. This includes fluor and radioactively labeled oligos and fluors alone.


parents

array control design

array control reporter size

http://www.ebi.ac.uk/efo/EFO_0005439

An array design in which a Reporter is included on an array of whose BioSequence is of known length used as a methodological control for hybridization efficiency.


parents

array control design

array control spike calibration

http://www.ebi.ac.uk/efo/EFO_0000375

An array design in which a reporter that could be hybridized to an exogenously added nucleic acid or protein (spike) before or during hybridization is used as a control for data processing.


parents

array control design


synonyms

control spike calibration

http://mged.sourceforge.net/ontologies/MGEDOntology.owl#control_spike_calibration

array data file

http://www.ebi.ac.uk/efo/EFO_0004098

A data file which contains data produced as the result of running an array.


parents

data file


children

MAGE-TAB array data matrix file

processed array data file

array design

http://www.ebi.ac.uk/efo/EFO_0000269

An instrument design which describes the design of the array.


parents

instrument design


children

array control design

arrayer

http://purl.obolibrary.org/obo/OBI_0400105

a device which deposits biological material onto a substrate in a defined pattern.

An arrayer is an instrument which deposits biological material onto a substrate in a defined pattern.


parents

instrument


synonyms

http://mged.sourceforge.net/ontologies/MGEDOntology.owl#arrayer

ArrayExpress experiment type

http://www.ebi.ac.uk/efo/EFO_0004120

Experiment type permitted specifically in ArrayExpress


parents

experimental process


children

antigen profiling

ChIP-chip by array

ChIP-chip by SNP array

ChIP-chip by tiling array

comparative genomic hybridization by array

DNA-seq

genotyping by array

genotyping by high throughput sequencing

IP-seq

metabolomic profiling

methylation profiling by array

methylation profiling by high throughput sequencing

microRNA profiling by array

proteomic profiling by array

proteomic profiling by mass spectrometer

RIP-Chip by array

RNAi profiling by array

tiling path by array

TraDIS sequencing

transcription profiling by array

transcription profiling by high throughput sequencing

transcription profiling by MPSS

transcription profiling by RT-PCR

transcription profiling by SAGE

transcription profiling by tiling array

translation profiling

array manufacturer

http://www.ebi.ac.uk/efo/EFO_0001728


parents

organization role


synonyms

array_manufacturer

http://mged.sourceforge.net/ontologies/MGEDOntology.owl#array_manufacturer

array platform variation design

http://www.ebi.ac.uk/efo/EFO_0001764

An experiment in which the array platform is compared, e.g. Agilent versus Affy.


parents

array specific design


synonyms

array_platform_variation_design

http://mged.sourceforge.net/ontologies/MGEDOntology.owl#array_platform_variation_design

array reporter

http://www.ebi.ac.uk/efo/EFO_0005072

A reporter (sometimes 'probe' or 'oligo') is material such as single stranded DNA or an antibody, usually at a particular location on an array, onto which target material of interest is hybridized and quantified.


parents

instrument part


children

in situ oligo

spotted colony reporter

spotted double stranded DNA reporter

spotted protein reporter

spotted single stranded DNA PCR amplicon reporter

spotted single stranded oligo reporter


synonyms

array oligo

array probe

array scanner

http://purl.obolibrary.org/obo/OBI_0400104

An processed material which acquires images of fluorescence (induced with lasers) from labeled molecules on the surface of the microarray chip


parents

instrument


synonyms

array_scanner

http://mged.sourceforge.net/ontologies/MGEDOntology.owl#array_scanner

array scanning and feature extraction protocol

http://www.ebi.ac.uk/efo/EFO_0003814

A protocol describing an image acquisition process that generates an image and features extracted in numerical form from an array.


parents

gene expression protocol

array specific design

http://www.ebi.ac.uk/efo/EFO_0004668

Methodological variation study design specific for array technology


parents

methodological variation design


children

all pairs

array platform variation design

dye swap design

loop design

self vs self design

array surface coating

http://www.ebi.ac.uk/efo/EFO_0005069

The surface used to coat the array substrate.


parents

instrument part


children

aminosilane substrate coating

polylysine substrate coating

Arrhinia - choanal atresia - microphthalmia

http://www.orpha.net/ORDO/Orphanet_1135


parents

Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability

Arrhythmogenic right ventricular dysplasia

http://www.orpha.net/ORDO/Orphanet_247

Arrhythmogenic right ventricular cardiomyopathy/dysplasia (ARVC/D) is a heart muscle disease that consists in progressive dystrophy of primarily the right ventricular myocardium with fibro-fatty replacement and ventricular dilation, and that is clinically characterized by ventricular arrhythmias. and progressive right ventricular or biventricular failure. ARCVD is a major cause of sudden death in the young and among athletes.


parents

Rare genetic cardiac disease


children

Familial isolated arrhythmogenic right ventricular dysplasia

Naxos disease


synonyms

Arrhythmogenic right ventricular cardiomyopathy

ARVC

ARVD

arsenic

http://purl.obolibrary.org/obo/CHEBI_27563

A pnictogen that has formula As.


parents

element


synonyms

[As]

33As

Arsen

arsenic atom

arsenico

arsenicum

InChI=1/As

InChIKey=RQNWIZPPADIBDY-UHFFFAOYAR

arsenic oxide

http://purl.obolibrary.org/obo/CHEBI_50527


parents

chemical compound


synonyms

arsenic oxides

arsenic trichloride

http://purl.obolibrary.org/obo/CHEBI_63952


parents

ionic salt


synonyms

Arsenic(III) chloride

Arsenic(III) trichloride

Arsenic butter

Arsenic chloride

Arsenious chloride

arsenous chloride

Arsenous trichloride

AsCl3

Butter of arsenic

Caustic arsenic chloride

Caustic oil of arsenic

Chlorure arsenieux

Chlorure d'arsenic

Trichloroarsine

Trichlorure d'arsenic

arsenite(3-)

http://purl.obolibrary.org/obo/CHEBI_29866

An arsenite ion that has formula AsO3.


parents

chemical compound


synonyms

[O-][As]([O-])[O-]

ARSENITE

arsorite

As(III); arsenite

AsO3

AsO3(3-)

InChI=1/AsO3/c2-1(3)4/q-3

InChIKey=OWTFKEBRIAXSMO-UHFFFAOYAC

trioxidoarsenate(3-)

trioxoarsenate(3-)

trioxoarsenate(III)

arterial stiffness measurement

http://www.ebi.ac.uk/efo/EFO_0004517

An Arterial stiffness measurement is the information output of a non invasive pulse wave velocity assay. Arterial stiffness is a predictor of cardiovascular mortality


parents

cardiovascular measurement


synonyms

arterial stiffness

Arterial tortuosity syndrome

http://www.orpha.net/ORDO/Orphanet_3342

Arterial tortuosity syndrome (ATS) is a rare connective tissue disorder characterized by tortuosity and elongation of the large and medium-sized arteries and a propensity towards aneurysm formation, vascular dissection, and stenosis of the pulmonary arteries.


parents

Cutis laxa

Rare disease with thoracic aortic aneurysm and aortic dissection


synonyms

ATS

artery

http://purl.obolibrary.org/obo/UBERON_0001637

An epithelial tube or tree of tibes that transports blood away from the heart[modified from AEO definition].


parents

blood vessel


children

aortic arch

brachial artery

brachiocephalic artery

carotid artery

caudal artery

coronary artery

division of carotid artery

ductus arteriosus

external carotid artery

internal carotid artery

primitive mesencephalic artery

pulmonary artery

pulmonary trunk

renal artery

segmental intercostal artery


synonyms

arterial subtree

arterial system

arterial tree organ part

arterial vessel

arteries

artesunate

http://purl.obolibrary.org/obo/CHEBI_63918


parents

drug


synonyms

4-oxo-4-{[(3R,5aS,6R,8aS,9R,10S,12R,12aR)-3,6,9-trimethyldecahydro-3,12-epoxypyrano[4,3-j][1,2]benzodioxepin-10-yl]oxy}butanoic acid

artesunate

artesunato

artesunatum

artesunic acid

AS

butanedioic acid, 1-[(3R,5aS,6R,8aS,9R,10S,12R,12aR)-decahydro-3,6,9-trimethyl-3,12-epoxy-12H-pyrano[4,3-j]-1,2-benzodioxepin-10-yl] ester

C19H28O8

dihydroqinghasu hemsuccinate

arthralgia

http://purl.obolibrary.org/obo/HP_0002829

Joint pain.


parents

abnormality of the skeletal system


synonyms

joint pain

Arthroderma benhamiae

http://purl.obolibrary.org/obo/NCBITaxon_63400


parents

Ascomycota

Arthroderma cajetani

http://purl.obolibrary.org/obo/NCBITaxon_81846


parents

Ascomycota


synonyms

Microsporum cookei

Nannizzia cajetani

Arthroderma gypseum

http://purl.obolibrary.org/obo/NCBITaxon_63402


parents

Ascomycota


synonyms

Nannizzia gypsea

Arthroderma obtusum

http://purl.obolibrary.org/obo/NCBITaxon_119676


parents

Ascomycota


synonyms

Microsporum nanum

Arthroderma otae

http://purl.obolibrary.org/obo/NCBITaxon_63405


parents

Ascomycota


synonyms

Microsporum canis

Nannizzia otae

Arthroderma racemosum

http://purl.obolibrary.org/obo/NCBITaxon_231010


parents

Ascomycota


synonyms

Microsporum racemosum

Arthroderma uncinatum

http://purl.obolibrary.org/obo/NCBITaxon_74035


parents

Ascomycota


synonyms

Trichophyton ajelloi

arthrogryposis

http://www.ebi.ac.uk/efo/EFO_0003857

Persistent flexure or contracture of a joint. (Dorland, 27th ed)


parents

rheumatic disease


synonyms

AMYOPLASIA CONGEN

Amyoplasia Congenita

Arthrogryposes

Arthromyodysplasia, Congenital

ARTHROMYODYSPLASIA CONGEN

Arthromyodysplasias, Congenital

CONGEN ARTHROMYODYSPLASIA

Congenital Arthromyodysplasia

Congenital Arthromyodysplasias

Guerin Stern Syndrome

Guerin-Stern Syndrome

Myodystrophia Fetalis Deformans

Syndrome, Guerin-Stern

Arthrogryposis due to muscular dystrophy

http://www.orpha.net/ORDO/Orphanet_1155


parents

Arthrogryposis multiplex congenita

Congenital muscular dystrophy

Arthrogryposis - hyperkeratosis, lethal form

http://www.orpha.net/ORDO/Orphanet_1485


parents

Arthrogryposis multiplex congenita


synonyms

Johnston-Aarons-Schelley syndrome

Arthrogryposis-like hand anomaly - sensorineural deafness

http://www.orpha.net/ORDO/Orphanet_1144


parents

Syndromic genetic deafness

Distal arthrogryposis


synonyms

Distal arthrogryposis type 6

Arthrogryposis-like syndrome

http://www.orpha.net/ORDO/Orphanet_1149


parents

Arthrogryposis multiplex congenita


synonyms

Kuskokwim disease

Arthrogryposis multiplex congenita

http://www.orpha.net/ORDO/Orphanet_1037

Arthrogryposis multiplex congenita (AMC) is a group of disorder characterized by congenital limb malformation. It manifests by non-progressive multiple joint contractures that incorporate muscle weakness and fibrosis, resulting from a large number of disorders.


parents

Arthrogryposis syndrome


children

Adducted thumbs - arthrogryposis, Christian type

Arthrogryposis due to muscular dystrophy

Arthrogryposis - hyperkeratosis, lethal form

Arthrogryposis-like syndrome

Arthrogryposis multiplex congenita - whistling face

Arthrogryposis - renal dysfunction - cholestasis

Autosomal recessive myogenic arthrogryposis multiplex congenita

Hypomyelination neuropathy - arthrogryposis

Intellectual disability-developmental delay-contractures syndrome

Lethal arthrogryposis - anterior horn cell disease

Malignant hyperthermia - arthrogryposis - torticollis

Marden-Walker syndrome

Neurogenic arthrogryposis multiplex congenita

Van den Ende-Gupta syndrome

X-linked distal arthrogryposis multiplex congenita


synonyms

AMC

Amyoplasia congenita

Arthromyodysplasia congenita

Congenital amyoplasia

Congenital arthromyodysplasia

Multiple congenital arthrogryposis

Myodysplasia

Arthrogryposis multiplex congenita - whistling face

http://www.orpha.net/ORDO/Orphanet_1150


parents

Arthrogryposis multiplex congenita

Syndrome or malformation associated with head and neck malformations


synonyms

Illum syndrome

Arthrogryposis - renal dysfunction - cholestasis

http://www.orpha.net/ORDO/Orphanet_2697

Arthrogryposis-Renal dysfunction-Cholestasis (ARC) syndrome is a multisystem disorder, characterized by neurogenic arthrogryposis multiplex congenita, renal tubular dysfunction and neonatal cholestasis with low serum gamma-glutamyl transferase activity.


parents

Arthrogryposis multiplex congenita

Autosomal ichthyosis syndrome with fatal disease course

Disorder of bilirubin metabolism and excretion

Syndromic renal or urinary tract malformation


synonyms

ARC syndrome

Arthrogryposis - severe scoliosis

http://www.orpha.net/ORDO/Orphanet_65720

Distal arthrogryposis type 4 is an inherited developmental defect syndrome characterized by multiple congenital contractures of limbs, without primary neurologic and/or muscle disease that affects limb function, and a mild to severe scoliosis. Intelligence is normal.


parents

Distal arthrogryposis


synonyms

Distal arthrogryposis type 4

Distal arthrogryposis type IID

Arthrogryposis syndrome

http://www.orpha.net/ORDO/Orphanet_109007


parents

Genetic syndrome with limb malformations as a major feature


children

Arthrogryposis multiplex congenita

Distal arthrogryposis

Lethal congenital contracture syndrome

Multiple pterygium syndrome

Popliteal pterygium syndrome

Arthrogryposis with oculomotor limitation and electroretinal anomalies

http://www.orpha.net/ORDO/Orphanet_1154

Distal arthrogryposis type 5 is an inherited developmental defect syndrome characterized by multiple congenital contractures of limbs, without primary neurologic and/or muscle disease that affects limb function, and ocular anomalies (ptosis, external ophtalmoplegia and/or strabismus). Intelligence is normal.


parents

Distal arthrogryposis


synonyms

Distal arthrogryposis type 5

Distal arthrogryposis type IIB

Distal arthrogryposis with ophthalmoplegia

Oculomelic amyoplasia

articular cartilage

http://www.ebi.ac.uk/efo/EFO_0001902

A thin layer of cartilage, usually hyaline, on the articular surface of bones in synovial joints.


parents

cartilage


synonyms

hyaline cartilage

artificial sequences

http://purl.obolibrary.org/obo/NCBITaxon_81077


parents

organism

ARX-related epileptic encephalopathy

http://www.orpha.net/ORDO/Orphanet_182079


parents

Monogenic disease with epilepsy


children

Early infantile epileptic encephalopathy

Infantile epileptic-dyskinetic encephalopathy

Micrencephaly - corpus callosum agenesis - abnormal genitalia

Partington syndrome

Spasticity - intellectual disability - X-linked epilepsy

West syndrome

X-linked lissencephaly with abnormal genitalia

arylesterase enzyme measurement

http://www.ebi.ac.uk/efo/EFO_0005126

quantification of the activity of enzymes from the arylesterase family


parents

measurement


synonyms

paraoxonase enzyme measurement

asbestos

http://purl.obolibrary.org/obo/CHEBI_46661

Fibrous incombustible mineral composed of magnesium and calcium silicates with or without other elements.


parents

chemical compound


synonyms

Asbest

asbesto

asbestos exposure measurement

http://www.ebi.ac.uk/efo/EFO_0004806

Is a quantification of some asbestos exposure,


parents

measurement

ascending colon

http://purl.obolibrary.org/obo/UBERON_0001156

Organ part which is continuous with the cecum proximally and the transverse colon distally.[FMA]


parents

animal component


synonyms

colon ascendens

spiral colon

Ascher syndrome

http://www.orpha.net/ORDO/Orphanet_1253


parents

Malformation syndrome with skin/mucosae involvement

Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability


synonyms

Blepharochalasis - double lip

ascites

http://purl.obolibrary.org/obo/HP_0001541

Accumulation of fluid in the peritoneal cavity. Ascites is commonly associated with liver disease that has resulted in portal hypertension and low serum albumin levels.


parents

abnormality of the abdomen

ascitic fluid

http://purl.obolibrary.org/obo/UBERON_0007795


parents

animal fluid

Ascomycota

http://purl.obolibrary.org/obo/NCBITaxon_4890

Strain or line specific to yeast


parents

Eukaryota


children

Ajellomyces capsulatus

Alternaria alternata

Arthroderma benhamiae

Arthroderma cajetani

Arthroderma gypseum

Arthroderma obtusum

Arthroderma otae

Arthroderma racemosum

Arthroderma uncinatum

Aspergillus carbonarius

Aspergillus clavatus

Aspergillus flavus

Aspergillus fumigatus

Aspergillus fumigatus Af293

Aspergillus multicolor

Aspergillus niger

Aspergillus oryzae

Aspergillus oryzae RIB40

Aspergillus parasiticus

Aspergillus versicolor

Candida albicans

Candida albicans WO-1

Candida dubliniensis

Candida glabrata

Candida parapsilosis

Candida tenuis

Claviceps purpurea

Cochliobolus lunatus

Cochliobolus sativus

Cordyceps militaris

Dactylellina haptotyla

Debaryomyces hansenii

Drechslera sp.

Emericella nidulans

Epidermophyton floccosum

Eurotium amstelodami

Eurotium chevalieri

Fusarium acuminatum

Fusarium anthophilum

Fusarium avenaceum

Fusarium cerealis

Fusarium equiseti

Fusarium globosum

Fusarium incarnatum

Fusarium oxysporum

Fusarium solani

Fusarium sp.

Fusarium sporotrichioides

Fusarium subglutinans

Gibberella fujikuroi

Gibberella moniliformis

Gibberella pulicaris

Gibberella zeae

Hypocrea jecorina

Hypocrea lixii

Hypocrea virens

Kluyveromyces lactis

Komagataella pastoris

Lachancea

Lachancea kluyveri NRRL Y-12651

Leptosphaeria maculans

Leptosphaerulina chartarum

Lodderomyces elongisporus NRRL YB-4239

Magnaporthe grisea

Magnaporthe oryzae

Magnaporthe oryzae 70-15

Metarhizium

Metarhizium anisopliae

Microsporum distortum

Microsporum ferrugineum

Microsporum gallinae

Naumovozyma

Nectria rigidiuscula

Neosartorya fennelliae

Neosartorya fischeri

Neurospora crassa

Neurospora tetrasperma

Ogataea angusta

Paracoccidioides brasiliensis

Paracoccidioides brasiliensis Pb01

Penicillium chrysogenum

Penicillium corylophilum

Penicillium expansum

Penicillium fellutanum

Penicillium funiculosum

Penicillium islandicum

Penicillium italicum

Penicillium rugulosum

Penicillium viridicatum

Podospora anserina

Saccharomyces bayanus

Saccharomyces bayanus MCYC 623

Saccharomyces bayanus x Saccharomyces cerevisiae

Saccharomyces boulardii

Saccharomyces cerevisiae

Saccharomyces cerevisiae x Saccharomyces kudriavzevii

Saccharomyces kudriavzevii

Saccharomyces mikatae

Saccharomyces mikatae IFO 1815

Saccharomyces paradoxus

Saccharomyces paradoxus NRRL Y-17217

Saccharomyces pastorianus

Saccharomyces pastorianus Weihenstephan 34/70

Saccharomyces uvarum

Schizosaccharomyces japonicus

Schizosaccharomyces pombe

Sordaria macrospora

Stenocarpella maydis

Trichoderma atroviride

Trichoderma reesei QM6a

Trichophyton longifusum

Trichophyton megninii

Trichophyton rubrum

Trichophyton schoenleinii

Trichophyton soudanense

Trichophyton terrestre

Trichophyton verrucosum

Trichophyton violaceum

Tuber melanosporum

Yarrowia lipolytica

Zymoseptoria tritici


synonyms

yeasts

Asian

http://www.ebi.ac.uk/efo/EFO_0003152

Denotes a person having origins in any of the original peoples of the Far East, Southeast Asia, or the Indian subcontinent, including Cambodia, China, India, Japan, Korea, Malaysia, Mongolia, Pakistan, the Philippine Islands, Thailand, and Vietnam.


parents

ethnic group


children

Filipino

Japanese

Korean


synonyms

Asians

Asian/Pacific Islander

http://www.ebi.ac.uk/efo/EFO_0003154

Denotes a person having origins in any of the original peoples of Hawaii, Guam, Samoa, or other Pacific Islands. The term covers particularly people who identify themselves as part-Hawaiian, Native Hawaiian, Guamanian or Chamorro, Carolinian, Samoan, Chuukese (Trukese), Fijian, Kosraean, Melanesian, Micronesian, Northern Mariana Islander, Palauan, Papua New Guinean, Pohnpeian, Polynesian, Solomon Islander, Tahitian, Tokelauan, Tongan, Yapese, or Pacific Islander, not specified.


parents

ethnic group


synonyms

Native Hawaiian or Other Pacific Islander

Asian Indian

http://www.ebi.ac.uk/efo/EFO_0003153

In North America the term is used to distinguish a person having origins in the original peoples of the Indian sub-continent from Native Americans.


parents

ethnic group


synonyms

Asian Indians

Hindu

Indian

asparaginase hypersensitivity

http://www.ebi.ac.uk/efo/EFO_0004881

Is an allergy to asaparaginase. Asparaginase is an enzyme isolated from the bacterium Escherichia coli or the bacterium Erwinia carotovora with antileukemic activity


parents

response to drug

aspartate aminotransferase measurement

http://www.ebi.ac.uk/efo/EFO_0004736

Is a quantification of aspartate aminotransferase, and is commonly used as a marker for liver function.


parents

liver enzyme measurement


synonyms

Aspartate transaminase measurement

Aspartylglucosaminuria

http://www.orpha.net/ORDO/Orphanet_93

Aspartylglycosaminuria (AGU) is an autosomal recessive lysosomal storage disease belonging to the oligosaccharidosis group (also called glycoproteinosis).


parents

Neurometabolic disease

Oligosaccharidosis

Lysosomal storage disease with skeletal involvement


synonyms

Aspartylglucosaminidase deficiency

AsPC1

http://www.ebi.ac.uk/efo/EFO_0002112


parents

cancer cell line

Asperger syndrome

http://www.ebi.ac.uk/efo/EFO_0003757

An autism spectrum disorder that is characterized by significant difficulties in social interaction, along with restricted and repetitive patterns of behavior and interests. It differs from other autism spectrum disorders by its relative preservation of linguistic and cognitive development.


parents

autism spectrum disorder


synonyms

Asperger's disorder

Asperger's syndrome

Asperger disorder

X-linked Asperger syndrome

Aspergillus carbonarius

http://purl.obolibrary.org/obo/NCBITaxon_40993


parents

Ascomycota

Aspergillus clavatus

http://purl.obolibrary.org/obo/NCBITaxon_5057


parents

Ascomycota

Aspergillus flavus

http://purl.obolibrary.org/obo/NCBITaxon_5059


parents

Ascomycota


synonyms

Petromyces flavus

Aspergillus fumigatus

http://purl.obolibrary.org/obo/NCBITaxon_746128


parents

Ascomycota


synonyms

Aspergillus fumigates

Neosartorya fumigata

Sartorya fumigata

Aspergillus fumigatus Af293

http://purl.obolibrary.org/obo/NCBITaxon_330879


parents

Ascomycota

Aspergillus multicolor

http://purl.obolibrary.org/obo/NCBITaxon_41759


parents

Ascomycota

Aspergillus niger

http://purl.obolibrary.org/obo/NCBITaxon_5061


parents

Ascomycota


synonyms

A. niger

Aspergillus niger Tiegh.

Aspergillus oryzae

http://purl.obolibrary.org/obo/NCBITaxon_5062


parents

Ascomycota


synonyms

Aspergillus oryza

Eurotium oryzae

Aspergillus oryzae RIB40

http://purl.obolibrary.org/obo/NCBITaxon_510516


parents

Ascomycota

Aspergillus parasiticus

http://purl.obolibrary.org/obo/NCBITaxon_5067


parents

Ascomycota

Aspergillus versicolor

http://purl.obolibrary.org/obo/NCBITaxon_46472


parents

Ascomycota

aspirin hydrolysis measurement

http://www.ebi.ac.uk/efo/EFO_0005211

quantification of the rate of hydrolysis of aspirin in blood as an indicator of the therapeutic effectiveness of aspirin


parents

measurement

aspirin induced asthma

http://purl.obolibrary.org/obo/HP_0012042

Aspirin induced asthma is caused by an anomaly in the arachidonic acid cascade, which causes increased production of cysteinyl leukotrienes, a series of chemicals involved in the body's inflammatory response. When medications like NSAIDs or aspirin block the COX-1 enzyme, prostaglandin and thromboxane production is decreased, which causes the overproduction of leukotrienes and produces the severe asthma and allergy-like effects. Although the underlying cause is not fully understood, the attachment of platelets to certain leukocytes in the blood may contribute to the overproduction of leukotrienes


parents

asthma


synonyms

aspirin induced respiratory disease (non-exact synonym)

assay

http://purl.obolibrary.org/obo/OBI_0000070

An assay is a process with the objective to create as an output information about a material entity (bearing evaluant role).

A planned process with the objective to produce information about some evaluant


parents

experimental process


children

assay by instrument

assay by molecule

microscopy assay

motility assay

population growth assay

seq_library_strategy

tumor grading


synonyms

measuring

scientific observation

assay by instrument

http://www.ebi.ac.uk/efo/EFO_0002773


parents

assay


children

array assay

mass spectrometry assay

sequencing assay

assay by molecule

http://www.ebi.ac.uk/efo/EFO_0002772


parents

assay


children

amplicon sequencing

DNA assay

metabolomic profiling

protein assay

RNA assay

Astatotilapia

http://purl.obolibrary.org/obo/NCBITaxon_8152


parents

Eukaryota

asthma

http://www.ebi.ac.uk/efo/EFO_0000270

A bronchial disease that is characterized by chronic inflammation and narrowing of the airways, which is caused by a combination of environmental and genetic factors resulting in recurring periods of wheezing (a whistling sound while breathing), chest tightness, shortness of breath, mucus production and coughing. The symptoms appear due to a variety of triggers such as allergens, irritants, respiratory infections, weather changes, excercise, stress, reflux disease, medications, foods and emotional anxiety.

A chronic respiratory disease manifested as difficulty breathing due to the narrowing of bronchial passageways.

A form of bronchial disorder with three distinct components: airway hyper-responsiveness (RESPIRATORY HYPERSENSITIVITY), airway INFLAMMATION, and intermittent AIRWAY OBSTRUCTION. It is characterized by spasmodic contraction of airway smooth muscle, WHEEZING, and dyspnea (DYSPNEA, PAROXYSMAL).

Tendency of the smooth muscle of the tracheobronchial tree to contract more intensely in response to a given stimulus than it does in the response seen in normal individuals. This condition is present in virtually all symptomatic patients with asthma. The most prominent manifestation of this smooth muscle contraction is a decrease in airway caliber that can be readily measured in the pulmonary function laboratory.


parents

respiratory system disease


children

aspirin induced asthma

childhood onset asthma


synonyms

Airway hyperreactivity

Asthma, Bronchial

Asthma, unspecified

Asthma, unspecified type, with acute exacerbation

Asthma, unspecified type, without mention of status asthmaticus

Asthma (disorder)

Asthma NOS

Asthma NOS (disorder)

ASTHMA NOS W (AC) EXAC

Asthmas

Asthmatic

Asthma unspecified

Asthma unspecified (disorder)

BHR - Bronchial hyperreactivity

Bronchial asthma

Bronchial Hyperreactivities

Bronchial hyperreactivity

Bronchial hyperresponsiveness

Bronchial hypersensitivity

chronic obstructive asthma

chronic obstructive asthma with acute exacerbation

chronic obstructive asthma with status asthmaticus

DUST PNEUMONOPATHY NEC

Exercise induced asthma

Exercise-induced asthma

Exercise-induced asthma (disorder)

Hyperreactive airway disease

Hyperreactive airways disease

Hyperreactivities, Bronchial

Hyperreactivity, Bronchial

Other forms of asthma

Pneumonopathy due to inhalation of other dust

Pneumopathy due to inhalation of other dust

Pneumopathy due to inhalation of other dust (disorder)

Pneumopathy due to inhalation of other dust NOS

Pneumopathy due to inhalation of other dust NOS (disorder)

Astigmatism

http://www.ebi.ac.uk/efo/EFO_0004222

Unequal curvature of the refractive surfaces of the eye. Thus a point source of light cannot be brought to a point focus on the retina but is spread over a more or less diffuse area. This results from the radius of curvature in one plane being longer or shorter than the radius at right angles to it. (Dorland, 27th ed).


parents

refractive error

Astley-Kendall dysplasia

http://www.orpha.net/ORDO/Orphanet_85175


parents

Chondrodysplasia punctata

astrocyte

http://purl.obolibrary.org/obo/CL_0000127

A class of large neuroglial (macroglial) cells in the central nervous system - the largest and most numerous neuroglial cells in the brain and spinal cord. Astrocytes (from 'star' cells) are irregularly shaped with many long processes, including those with 'end feet' which form the glial (limiting) membrane and directly and indirectly contribute to the blood-brain barrier. They regulate the extracellular ionic and chemical environment, and 'reactive astrocytes' (along with microglia) respond to injury.

A class of large neuroglial (macroglial) cells in the central nervous system - the largest and most numerous neuroglial cells in the brain and spinal cord. Astrocytes (from "star" cells) are irregularly shaped with many long processes, including those with "end feet" which form the glial (limiting) membrane and directly and indirectly contribute to the blood-brain barrier. They regulate the extracellular ionic and chemical environment, and "reactive astrocytes" (along with microglia) respond to injury (MSH).

cells) are irregularly shaped with many long processes, including those with "end feet" which form the glial (limiting) membrane and directly and indirectly contribute to the blood-brain barrier. They regulate the extracellular ionic and chemical environment, and


parents

nervous system cell

astrocytoma

http://www.ebi.ac.uk/efo/EFO_0000272

A glial tumor of the brain or spinal cord showing astrocytic differentiation. It includes the following clinicopathological entities: pilocytic astrocytoma, diffuse astrocytoma, anaplastic astrocytoma, pleomorphic xanthoastrocytoma, subependymal giant cell astrocytoma, and glioblastoma.

Neoplasms of the brain and spinal cord derived from glial cells which vary from histologically benign forms to highly anaplastic and malignant tumors. Fibrillary astrocytomas are the most common type and may be classified in order of increasing malignancy (grades I through IV). In the first two decades of life, astrocytomas tend to originate in the cerebellar hemispheres; in adults, they most frequently arise in the cerebrum and frequently undergo malignant transformation. (From Devita et al., Cancer: Principles and Practice of Oncology, 5th ed, pp2013-7; Holland et al., Cancer Medicine, 3d ed, p1082)

Neoplasms of the brain and spinal cord derived from glial cells which vary from histologically benign forms to highly anaplastic and malignant tumors. Fibrillary astrocytomas are the most common type and may be classified in order of increasing malignancy (grades I through IV). In the first two decades of life, astrocytomas tend to originate in the cerebellar hemispheres; in adults, they most frequently arise in the cerebrum and frequently undergo malignant transformation (MeSH).


parents

central nervous system cancer

brain neoplasm


children

anaplastic astrocytoma

glioblastoma multiforme

oligoastrocytoma


synonyms

[M]Astrocytoma NOS

Astrocytic Glioma

Astrocytic Gliomas

Astrocytic Neoplasm

Astrocytic Tumor

Astrocytic tumor of brain

Astrocytic tumour of brain

Astrocytoma, Cerebral

Astrocytoma, Childhood Cerebral

Astrocytoma, Fibrillary

Astrocytoma, Gemistocytic

Astrocytoma, Grade I

Astrocytoma, Grade II

Astrocytoma, Grade III

Astrocytoma, Intracranial

Astrocytoma, Juvenile Pilocytic

Astrocytoma, low grade

Astrocytoma, no ICD-O subtype

astrocytoma, no ICD-O subtype (morphologic abnormality)

Astrocytoma, NOS

Astrocytoma, Pilocytic

Astrocytoma, Protoplasmic

Astrocytoma, Subependymal Giant Cell

Astrocytoma of brain

Astrocytoma of brain (disorder)

Astrocytomas

Astrocytomas, Cerebral

Astrocytomas, Childhood Cerebral

Astrocytomas, Fibrillary

Astrocytomas, Gemistocytic

Astrocytomas, Grade I

Astrocytomas, Grade II

Astrocytomas, Grade III

Astrocytomas, Intracranial

Astrocytomas, Juvenile Pilocytic

Astrocytomas, Pilocytic

Astrocytomas, Protoplasmic

astroglioma

Astrogliomas

Cerebral Astrocytoma

Cerebral Astrocytoma, Childhood

Cerebral Astrocytomas

Cerebral Astrocytomas, Childhood

Childhood Cerebral Astrocytoma

Childhood Cerebral Astrocytomas

Cystic astrocytoma

Diffuse astrocytoma

Diffuse astrocytoma, low grade

Fibrillary Astrocytoma

Fibrillary Astrocytomas

Gemistocytic Astrocytoma

Gemistocytic Astrocytomas

Glioma, Astrocytic

Gliomas, Astrocytic

Grade I Astrocytoma

Grade I Astrocytomas

Grade II Astrocytoma

Grade II Astrocytomas

Grade III Astrocytoma

Grade III Astrocytomas

Intracranial Astrocytoma

Intracranial Astrocytomas

Juvenile Pilocytic Astrocytoma

Juvenile Pilocytic Astrocytomas

Mixed Oligoastrocytoma

Mixed Oligoastrocytomas

Oligoastrocytoma, Mixed

Oligoastrocytomas, Mixed

Pilocytic Astrocytoma

Pilocytic Astrocytoma, Juvenile

Pilocytic Astrocytomas

Pilocytic Astrocytomas, Juvenile

Protoplasmic Astrocytoma

Protoplasmic Astrocytomas

Subependymal Giant Cell Astrocytoma

asymmetric dimethylarginine

http://purl.obolibrary.org/obo/CHEBI_17929

A methyl-L-arginine having two methyl groups both attached to the primary amino moiety of the guanidino group.

A methyl-L-arginine that has formula C8H18N4O2.

Encoded by HOXC6 Gene (ANTP Family), 153- and 235-amino acid (27-kD) Homeobox C6 Protein isoforms are highly conserved sequence-specific DNA-binding homeobox transcription repressors that can cooperate with other HOX proteins and may contribute to the breast cell phenotype through co-operative interactions. As part of a developmental regulatory system that provides anterior-posterior positional identity to cells, HOXC6 may regulate the coordinated expression of multiple genes involved in morphogenesis and differentiation. (from LocusLink, Swiss-Prot, OMIM, and NCI)

Homeobox protein Hox-C6 (235 aa, ~27 kDa) is encoded by the human HOXC6 gene. This protein plays a role in transcription and embryonic development.


parents

chemical compound


synonyms

(2S)-2-amino-5-(N',N'-dimethylcarbamimidamido)pentanoic acid

(2S)-2-amino-5-{[(dimethylamino)(imino)methyl]amino}pentanoic acid

ADMA

C8H18N4O2

CN(C)C(=N)NCCC[C@H](N)C(O)=O

CP25

guanidino-N,N-dimethylarginine

HHO.C8

Homeobox Protein 3C

Homeobox Protein C6

Homeobox Protein C8

Homeobox Protein CP25

Homeobox Protein HHO.C8

Homeobox Protein Hox-3C

Homeobox Protein HOXC6

Homeobox Protein Hox-C6

HOX3C

HOXC6

InChI=1/C8H18N4O2/c1-12(2)8(10)11-5-3-4-6(9)7(13)14/h6H,3-5,9H2,1-2H3,(H2,10,11)(H,13,14)/t6-/m0/s1/f/h10-11,13H

InChIKey=YDGMGEXADBMOMJ-GNCCJFBBDQ

N,N-dimethylarginine

N(5)-((dimethylamino)iminomethyl)-L-ornithine

N(5)-(N,N-dimethylcarbamimidoyl)-L-ornithine

N(5)-[(dimethylamino)(imino)methyl]-L-ornithine

N(G),N(G)-dimethylarginine

N(G)-dimethylarginine

N(G1),N(G1)-dimethylarginine

N(omega),N(omega)-dimethyl-L-arginine

NG,NG-DIMETHYL-L-ARGININE

asymptomatic myeloma

http://www.ebi.ac.uk/efo/EFO_0003073

A plasma cell myeloma lacking clinical manifestations and organ impairment.


parents

multiple myeloma


synonyms

Asymptomatic Plasma Cell Myeloma

smoldering myeloma

Smoldering Plasma Cell Myeloma

Ataxia-deafness-intellectual disability syndrome

http://www.orpha.net/ORDO/Orphanet_1188


parents

X-linked cerebellar ataxia

Syndromic genetic deafness


synonyms

Reardon-Baraitser syndrome

Ataxia - hypogonadism - choroidal dystrophy

http://www.orpha.net/ORDO/Orphanet_1180

Ataxia - hypogonadism - choroidal dystrophy, also known as Boucher-Neuhäuser syndrome, is a very rare autosomal recessive and slowly progressive neurodegenerative disorder characterized by the triad of cerebellar ataxia that generally manifests at adolescence or early adulthood, chorioretinal dystrophy which may have a later onset (up to the fifth-sixth decade) leading to variable degrees of visual impairement, and hypogonadotropic hypogonadism (delayed puberty and lack of secondary sex characteristics). Ataxia - hypogonadism - choroidal dystrophy belongs to a clinical continuum of neurodegenerative disorders along with the clinically overlapping Cerebellar ataxia - hypogonadism (see this term).


parents

Rare disorder with hypogonadotropic hypogonadism

Rare hereditary ataxia


synonyms

Boucher-Neuhäuser syndrome

Ataxia-intellectual disability-oculomotor apraxia-cerebellar cysts syndrome

http://www.orpha.net/ORDO/Orphanet_370022


parents

Rare genetic intellectual disability with developmental anomaly

Genetic syndrome with a cerebellar malformation as major feature

Oculomotor apraxia or related oculomotor disease

Ataxia neuropathy spectrum

http://www.orpha.net/ORDO/Orphanet_254818


parents

Multiple mitochondrial DNA deletion syndrome


children

Recessive mitochondrial ataxia syndrome

Sensory ataxic neuropathy - dysarthria - ophthalmoparesis

Spinocerebellar ataxia with epilepsy

Ataxia - oculomotor apraxia type 1

http://www.orpha.net/ORDO/Orphanet_1168

Ataxia-oculomotor apraxia type 1 (AOA1) is a form of autosomal recessive cerebellar ataxia (ARCA; see this term) characterized by a progressive cerebellar ataxia associated with oculomotor apraxia, choeroathetosis and severe peripheral neuropathy.


parents

Coenzyme Q10 deficiency

Autosomal recessive cerebellar ataxia due to a DNA repair defect

Oculomotor apraxia or related oculomotor disease


synonyms

AOA1

Ataxia - pancytopenia

http://www.orpha.net/ORDO/Orphanet_2585


parents

Rare genetic medullar disease


synonyms

Myelocerebellar disorder

Ataxia - tapetoretinal degeneration

http://www.orpha.net/ORDO/Orphanet_1178


parents

Rare hereditary ataxia

Ataxia-telangiectasia

http://www.orpha.net/ORDO/Orphanet_100


parents

Malformation syndrome with skin/mucosae involvement

DNA repair defect other than combined T-cell and B-cell immunodeficiencies

Polymalformative genetic syndrome with increased risk of developing cancer

Genetic skin vascular disorder

Non-acquired premature ovarian failure

Autosomal recessive cerebellar ataxia due to a DNA repair defect

Conjunctival telangiectasia

Oculomotor apraxia or related oculomotor disease


synonyms

Louis-Bar syndrome

Ataxia-telangiectasia-like disorder

http://www.orpha.net/ORDO/Orphanet_251347


parents

DNA repair defect other than combined T-cell and B-cell immunodeficiencies

Polymalformative genetic syndrome with increased risk of developing cancer

Autosomal recessive cerebellar ataxia due to a DNA repair defect


synonyms

ATLD

Ataxia-telangiectasia variant

http://www.orpha.net/ORDO/Orphanet_370109


parents

Persistent combined dystonia


synonyms

v-AT

Ataxia with dementia

http://www.orpha.net/ORDO/Orphanet_98538


parents

Genetic neurodegenerative disease with dementia


children

Early-onset ataxia with dementia

Late-onset ataxia with dementia

Ataxia with vitamin E deficiency

http://www.orpha.net/ORDO/Orphanet_96

Ataxia with vitamin E deficiency (AVED) is a neurodegenerative disease belonging to the inherited cerebellar ataxias. It is mainly characterized by progressive spino-cerebellar ataxia, loss of proprioception, areflexia, and is associated with a marked deficiency in vitamin E.


parents

Rare hereditary metabolic disease with peripheral neuropathy

Disorder of other vitamins and cofactors metabolism and transport

Neurometabolic disease

Autosomal recessive metabolic cerebellar ataxia

Metabolic disease with pigmentary retinitis


synonyms

Ataxia with isolated vitamin E deficiency

AVED

Familial isolated vitamin E deficiency

Friedreich-like ataxia

Isolated vitamin E deficiency

ATC Classification System

http://www.ebi.ac.uk/efo/EFO_0005634

The Anatomical Therapeutic Chemical (ATC) Classification System is used for the classification of active ingredients of drugs according to the organ or system on which they act and their therapeutic, pharmacological and chemical properties. It is controlled by the World Health Organization Collaborating Centre for Drug Statistics Methodology (WHOCC), and was first published in 1976.


parents

information entity


children

ATC Code A Alimentary tract and metabolism

ATC Code B Blood and blood forming organs

ATC Code C Cardiovascular system

ATC Code D Dermatologicals

ATC Code G Genito-urinary system and sex hormones

ATC Code H Systemic hormonal preparations, excluding sex hormones and insulins

ATC Code J Antiinfectives for systemic use

ATC Code L Antineoplastic and immunomodulating agents

ATC Code M Musculo-skeletal system

ATC Code N Nervous system

ATC Code P Antiparasitic products, insecticides and repellents

ATC Code R Respiratory system

ATC Code S Sensory organs

ATC Code V Various


synonyms

Anatomical Therapeutic Chemical Classification System

ATC Code A Alimentary tract and metabolism

http://www.ebi.ac.uk/efo/EFO_0005633

Classification of drugs affecting the alimentary tract and metabolism.


parents

ATC Classification System

ATC Code B Blood and blood forming organs

http://www.ebi.ac.uk/efo/EFO_0005635

Classification of drugs affecting the blood and blood forming organs of the body.


parents

ATC Classification System

ATC Code C Cardiovascular system

http://www.ebi.ac.uk/efo/EFO_0005636

Classification of drugs affecting the cardiovascular system.


parents

ATC Classification System

ATC Code D Dermatologicals

http://www.ebi.ac.uk/efo/EFO_0005637

Classification of drugs affecting skin, hair and nails.


parents

ATC Classification System

ATC Code G Genito-urinary system and sex hormones

http://www.ebi.ac.uk/efo/EFO_0005638


parents

hormone measurement

ATC Classification System

ATC Code H Systemic hormonal preparations, excluding sex hormones and insulins

http://www.ebi.ac.uk/efo/EFO_0005639

Classification of drugs affecting hormones expect for sexual hormones and insulin.


parents

ATC Classification System

ATC Code J Antiinfectives for systemic use

http://www.ebi.ac.uk/efo/EFO_0005640


parents

ATC Classification System

ATC Code L Antineoplastic and immunomodulating agents

http://www.ebi.ac.uk/efo/EFO_0005641

Classification of drugs comprising preparations used in the treatment of malignant neoplastic diseases, and immunomodulating agents.


parents

ATC Classification System

ATC Code M Musculo-skeletal system

http://www.ebi.ac.uk/efo/EFO_0005642

Classification of drugs affecting musculo-sketal system.


parents

ATC Classification System

ATC Code N Nervous system

http://www.ebi.ac.uk/efo/EFO_0005643

Classification of drugs affecting the nervous system such as anesthetics.


parents

ATC Classification System

ATC Code P Antiparasitic products, insecticides and repellents

http://www.ebi.ac.uk/efo/EFO_0005644


parents

ATC Classification System

ATC Code R Respiratory system

http://www.ebi.ac.uk/efo/EFO_0005645

Classification of drugs affecting the respiratory system.


parents

pulmonary function measurement

ATC Classification System

ATC Code S Sensory organs

http://www.ebi.ac.uk/efo/EFO_0005646

Classification of drugs affecting the sensory organs.


parents

ATC Classification System

ATC Code V Various

http://www.ebi.ac.uk/efo/EFO_0005647


parents

ATC Classification System

Atelosteogenesis type I

http://www.orpha.net/ORDO/Orphanet_1190

Atelosteogenesis I is a perinatally lethal skeletal dysplasia characterized by severe short-limbed dwarfism, joint dislocations, club feet along with distinctive facies and radiographic findings.


parents

Pierre Robin syndrome associated with bone disease

Filamin-related bone disorder

Primary bone dysplasia with multiple joint dislocations


synonyms

AO1

AOI

Atelosteogenesis type 1

Giant cell chondrodysplasia

Spondylo-humero-femoral dysplasia

Atelosteogenesis type II

http://www.orpha.net/ORDO/Orphanet_56304

Atelosteogenesis II is a lethal perinatal bone dysplasia characterized by limb shortening, normal sized skull with cleft palate, hitchhiker thumbs, distinctive facial dysmorphism and radiographic skeletal features, caused by mutations in the diastrophic dysplasia sulfate transporter gene.


parents

Multiple congenital anomalies/dysmorphic syndrome-intellectual disability

Pierre Robin syndrome associated with bone disease

Rare genetic intellectual disability with developmental anomaly

Sulfation-related bone disorder

Mesomelic and rhizo-mesomelic dysplasia


synonyms

Atelosteogenesis type 2

De la Chapelle dysplasia

Neonatal osseous dysplasia type 1

Atelosteogenesis type III

http://www.orpha.net/ORDO/Orphanet_56305

Atelosteogenesis III (AOIII) is a skeletal dysplasia characterized by short limbs dysmorphic facies and diagnostic radiographic findings.


parents

Multiple congenital anomalies/dysmorphic syndrome-intellectual disability

Pierre Robin syndrome associated with bone disease

Rare genetic intellectual disability with developmental anomaly

Filamin-related bone disorder

Primary bone dysplasia with multiple joint dislocations


synonyms

AO3

AOIII

Atelosteogenesis type 3

Athabaskan brainstem dysgenesis syndrome

http://www.orpha.net/ORDO/Orphanet_69739


parents

Rare genetic neurological disorder

Syndromic genetic deafness


synonyms

ABSD

Athabascan brainstem dysgenesis syndrome

Navajo brainstem syndrome

Athelia rolfsii

http://purl.obolibrary.org/obo/NCBITaxon_39291


parents

Eukaryota


synonyms

Athelia rolfsii (Curzi) C.C.Tu et Kimbr.

Corticium rolfsii

Corticium rolfsii Curzi

Sclerotium rolfsii

atherosclerosis

http://www.ebi.ac.uk/efo/EFO_0003914

A thickening and loss of elasticity of the walls of ARTERIES that occurs with formation of ATHEROSCLEROTIC PLAQUES within the ARTERIAL INTIMA.


parents

vascular disease


synonyms

Atherogenesis

Atheroscleroses

Atherosclerosis - deafness - diabetes - epilepsy - nephropathy

http://www.orpha.net/ORDO/Orphanet_1192


parents

Epilepsy syndrome

Syndromic genetic deafness

Syndromic renal or urinary tract malformation


synonyms

Feigenbaum-Bergeron-Richardson syndrome

Athyreosis

http://www.orpha.net/ORDO/Orphanet_95713

Athyreosis is a form of thyroid dysgenesis (see this term) characterized by complete absence of thyroid tissue that results in primary congenital hypothyroidism (see this term), a permanent thyroid deficiency that is present from birth.


parents

Congenital hypothyroidism due to developmental anomaly

Atkin-Flaitz syndrome

http://www.orpha.net/ORDO/Orphanet_1193


parents

Multiple congenital anomalies/dysmorphic syndrome-intellectual disability

X-linked syndromic intellectual disability


synonyms

X-linked intellectual disability, Atkin type

Atlas experiment type

http://www.ebi.ac.uk/efo/EFO_0004108

Experiment type permitted in Atlas


parents

experimental process


children

ChIP-chip by array

comparative genomic hybridization by array

methylation profiling by array

microRNA profiling by array

RIP-Chip by array

RNAi profiling by array

tiling path by array

transcription profiling by array

Atlas experiment type flag

http://www.ebi.ac.uk/efo/EFO_0004117

Flag for Atlas experiment types


parents

validation flag

Atlas Quality Control type

http://www.ebi.ac.uk/efo/EFO_0004107

Quality control type permitted in Atlas


parents

role


children

biological replicate

dye swap quality control role

technical replicate

atmosphere

http://www.ebi.ac.uk/efo/EFO_0000273

The atmospheric conditions used to culture or grow an organism.


parents

environmental factor


synonyms

http://mged.sourceforge.net/ontologies/MGEDOntology.owl#atmosphere

atmosphere unit

http://www.ebi.ac.uk/efo/EFO_0005212

The standard atmosphere is an international reference pressure defined as 101325 Pa and formerly used as a unit of pressure.


parents

pressure unit

atopic eczema

http://www.ebi.ac.uk/efo/EFO_0000274

A chronic inflammatory genetically determined disease of the skin marked by increased ability to form reagin (IgE), with increased susceptibility to allergic rhinitis and asthma, and hereditary disposition to a lowered threshold for pruritus. It is manifested by lichenification, excoriation, and crusting, mainly on the flexural surfaces of the elbow and knee. In infants it is known as infantile eczema.


parents

allergy


synonyms

Atopic Dermatitides

Atopic Dermatitis

atopic dermatitis and related conditions

Atopic dermatitis and related conditions (disorder)

Atopic Neurodermatitides

Atopic Neurodermatitis

Dermatitides, Atopic

Dermatitis, Atopic

Disseminated Neurodermatitides

Disseminated Neurodermatitis

Eczema, Atopic

Eczema, Infantile

Infantile Eczema

Neurodermatitides, Atopic

Neurodermatitides, Disseminated

Neurodermatitis, Atopic

Neurodermatitis, Disseminated

OTHER ATOPIC DERMATITIS

Other atopic dermatitis and related conditions

atopy

http://www.ebi.ac.uk/efo/EFO_0002686

A genetic predisposition to form IgE antibodies in response to exposure to allergens and therefore, for the development of immediate (type I) hypersensitivity and atopic conditions, such as allergic rhinitis; bronchial asthma, atopic dermatitis, and food allergy. Mutations of specific alleles on the long arm of chromosome 5 have been associated with higher levels of IL-4 and IgE and are known as IL-4 promoter polymorphisms.

Atopy is an exaggerated IgE-mediated immune response; all atopic disorders are type I hypersensitivity disorders. Not all allergic diseases are atopic. Source: Merck Manual


parents

allergy


synonyms

Atopic Allergy

atorvastatin

http://purl.obolibrary.org/obo/CHEBI_39548

A dihydroxy monocarboxylic acid that has formula C33H35FN2O5.

Human CD82 wild-type allele is located in the vicinity of 11p11.2 and is approximately 54 kb in length. This allele, which encodes CD82 antigen Immunoprotein, is involved in metastasis suppression.


parents

drug


synonyms

(3R,5R)-7-[3-(anilinocarbonyl)-5-(4-fluorophenyl)-4-phenyl-2-(propan-2-yl)-1H-pyrrol-1-yl]-3,5-dihydroxyheptanoic acid

(R-(R*,R*))-2-(4-Fluorophenyl)-beta,delta-dihydroxy-5-(1-methylethyl)-3-phenyl-4-((phenylamino)carbonyl)-1H-pyrrole-1-heptanoic acid

4F9

7-[2-(4-FLUORO-PHENYL)-5-ISOPROPYL-3-PHENYL-4-PHENYLCARBAMOYL-PYRROL-1-YL]-3,5-DIHYDROXY-HEPTANOIC ACID

Atorlip

atorvastatina

atorvastatine

atorvastatinium

C33

C33H35FN2O5

CC(C)c1c(C(=O)Nc2ccccc2)c(-c2ccccc2)c(-c2ccc(F)cc2)n1CC[C@@H](O)C[C@@H](O)CC(O)=O

CD82

CD82 Antigen wt Allele

CD82 wt Allele

GR15

IA4

InChI=1/C33H35FN2O5/c1-21(2)31-30(33(41)35-25-11-7-4-8-12-25)29(22-9-5-3-6-10-22)32(23-13-15-24(34)16-14-23)36(31)18-17-26(37)19-27(38)20-28(39)40/h3-16,21,26-27,37-38H,17-20H2,1-2H3,(H,35,41)(H,39,40)/t26-,27-/m1/s1/f/h35,39H

InChIKey=XUKUURHRXDUEBC-WPPSOWBEDM

KAI1

KAI1 Gene

SAR2

ST6

ATP biosynthetic process

http://purl.obolibrary.org/obo/GO_0006754


parents

purine ribonucleotide biosynthetic process

purine ribonucleoside monophosphate biosynthetic process

purine ribonucleoside triphosphate biosynthetic process

ATP metabolic process

purine ribonucleoside biosynthetic process

ATP metabolic process

http://purl.obolibrary.org/obo/GO_0046034


parents

purine ribonucleotide metabolic process

purine ribonucleoside monophosphate metabolic process

purine ribonucleoside triphosphate metabolic process

purine ribonucleoside metabolic process


children

ATP biosynthetic process

atrazine

http://purl.obolibrary.org/obo/CHEBI_15930

A chloro-1,3,5-triazine herbicide that has formula C8H14ClN5.

Encoded by HOXC6 Gene (ANTP Family), 153- and 235-amino acid (27-kD) Homeobox C6 Protein isoforms are highly conserved sequence-specific DNA-binding homeobox transcription repressors that can cooperate with other HOX proteins and may contribute to the breast cell phenotype through co-operative interactions. As part of a developmental regulatory system that provides anterior-posterior positional identity to cells, HOXC6 may regulate the coordinated expression of multiple genes involved in morphogenesis and differentiation. (from LocusLink, Swiss-Prot, OMIM, and NCI)

Homeobox protein Hox-C6 (235 aa, ~27 kDa) is encoded by the human HOXC6 gene. This protein plays a role in transcription and embryonic development.


parents

chemical compound


synonyms

2-chloro-4-ethylamino-6-isopropylamino-s-triazine

2-CHLORO-4-ISOPROPYLAMINO-6-ETHYLAMINO-1,3,5-TRIAZINE

6-chloro-N-ethyl-N'-(1-methylethyl)-1,3,5-triazine-2,4-diamine

6-chloro-N-ethyl-N'-(propan-2-yl)-1,3,5-triazine-2,4-diamine

6-chloro-N-ethyl-N'-isopropyl-1,3,5-triazine-2,4-diamine

C8H14ClN5

CCNc1nc(Cl)nc(NC(C)C)n1

CP25

HHO.C8

Homeobox Protein 3C

Homeobox Protein C6

Homeobox Protein C8

Homeobox Protein CP25

Homeobox Protein HHO.C8

Homeobox Protein Hox-3C

Homeobox Protein HOXC6

Homeobox Protein Hox-C6

HOX3C

HOXC6

InChI=1/C8H14ClN5/c1-4-10-7-12-6(9)13-8(14-7)11-5(2)3/h5H,4H2,1-3H3,(H2,10,11,12,13,14)/f/h10-11H

InChIKey=MXWJVTOOROXGIU-PZWAIHAUCQ

Atresia of small intestine

http://www.orpha.net/ORDO/Orphanet_1201

Atresia of small intestine is a special form of intestinal atresia with absence of mesentery, which is most likely due to an intrauterine intestinal vascular accident. Newborns are usually preterm infants with low birth-weights, that encounter feeding difficulties (including vomiting with initial feeds, which may later worsened and the abdomen becomes progressively distended) as well as failure to thrive. Affected children present disrupted bowel loops assuming a spiral configuration resembling an 'apple peel' and may have less than half of the normal length of the small bowel and a physiologically short bowel. Atresia of small intestine is characterized by jejunal atresia near the ligament of Treitz, foreshortened bowel, and a large mesenteric gap. The bowel distal to the atresia is precariously supplied. Atresia of small intestine may be a manifestation of cystic fibrosis (see this term). The most important cause of mortality is short bowel syndrome (see this term), encountered in 65% of cases.


parents

Non-syndromic intestinal malformation

Primary short bowel syndrome


synonyms

Apple peel syndrome

Christmas tree syndrome

Intestinal atresia type IIIb

Jejunal atresia

Jejunoileal atresia

Small intestinal atresia

Atresia of urethra

http://www.orpha.net/ORDO/Orphanet_105


parents

Genetic non-syndromic renal or urinary tract malformation

atrial conduction disease

http://www.ebi.ac.uk/efo/EFO_0005304

atrial conduction disorder is a form of heart disease in which the conduction of the cardiac atrium is disrupted


parents

conduction system disorder

atrial fibrillation

http://www.ebi.ac.uk/efo/EFO_0000275

Abnormal cardiac rhythm that is characterized by rapid, uncoordinated firing of electrical impulses in the upper chambers of the heart (HEART ATRIA). In such case, blood cannot be effectively pumped into the lower chambers of the heart (HEART VENTRICLES). It is caused by abnormal impulse generation.


parents

cardiac arrhythmia


synonyms

AF - Atrial fibrillation

Atrial fibrillation (disorder)

Atrial Fibrillations

Auricular Fibrillation

Auricular Fibrillations

Fibrillation, Atrial

Fibrillation, Auricular

Fibrillations, Atrial

Fibrillations, Auricular

atrial flutter

http://www.ebi.ac.uk/efo/EFO_0003911

Rapid, irregular atrial contractions caused by a block of electrical impulse conduction in the right atrium and a reentrant wave front traveling up the inter-atrial septum and down the right atrial free wall or vice versa. Unlike ATRIAL FIBRILLATION which is caused by abnormal impulse generation, typical atrial flutter is caused by abnormal impulse conduction. As in atrial fibrillation, patients with atrial flutter cannot effectively pump blood into the lower chambers of the heart (HEART VENTRICLES).


parents

atrial tachycardia


synonyms

Atrial Flutters

Auricular Flutter

Auricular Flutters

Flutter, Atrial

Flutter, Auricular

Flutters, Atrial

Flutters, Auricular

atrial function, left

http://www.ebi.ac.uk/efo/EFO_0004294

The hemodynamic and electrophysiological action of the LEFT ATRIUM.


parents

function


synonyms

left atrial function

atrial myocardium

http://www.ebi.ac.uk/efo/EFO_0003087


parents

myocardium

atrial natriuretic factor measurement

http://www.ebi.ac.uk/efo/EFO_0004789

Is a quantification of the 126-amino acid C-terminal fragment of the ANP precursor, an approximately 150-amino acid polypeptide in a number of species. It is formed by the removal of the N-terminal signal sequence ANP (1-24). This prohormone contains various active ANF sequences. ANF is is a powerful vasodilator, and a protein (polypeptide) hormone secreted by heart muscle cells.[1][2][3] It is involved in the homeostatic control of body water, sodium, potassium and fat (adipose tissue).


parents

cardiovascular measurement

hormone measurement

Atrial septal defect, coronary sinus type

http://www.orpha.net/ORDO/Orphanet_99104


parents

Interauricular communication


synonyms

ASD, coronary sinus type

Unroofed coronary sinus

Atrial septal defect, ostium primum type

http://www.orpha.net/ORDO/Orphanet_99106


parents

Interauricular communication


synonyms

ASD, ostium primum type

Atrial septal defect, ostium secundum type

http://www.orpha.net/ORDO/Orphanet_99103


parents

Interauricular communication


synonyms

ASD, ostium secundum type

Atrial septal defect, sinus venosus type

http://www.orpha.net/ORDO/Orphanet_99105


parents

Interauricular communication


synonyms

ASD, sinus venosus type

Atrial septal defect - atrioventricular conduction defects

http://www.orpha.net/ORDO/Orphanet_1479

Atrial septal defect (ASD) with atrioventricular conduction defects is an extremely rare genetic congenital heart disease characterized by the presence of ASD, mostly of the ostium secundum type (see this term), associated with conduction anomalies like atrioventricular block, atrial fibrillation or right bundle branch block.


parents

Genetic cardiac rhythm disease

Rare syndrome with cardiac malformations

Atrial stand still

http://www.orpha.net/ORDO/Orphanet_1344

Atrial stand still is a rare cardiac rhythm disease with a few familial and sporadic cases described to date that is characterized by a transient or permanent absence of electrical and mechanical atrial activity. Electrocardiographic findings include bradycardia, ectopic supraventricular rhythms, lack of atrial excitability and absent P waves.


parents

Genetic cardiac rhythm disease

Familial restrictive cardiomyopathy


synonyms

Atrial cardiomyopathy with heart block

Atrial tachyarrhythmia with short PR interval

http://www.orpha.net/ORDO/Orphanet_844

Lown-Ganong-Levine syndrome is an extremely rare conduction disorder characterized by a short PR interval (less than or equal to 120 ms) with normal QRS complex on electrocardiogram associated with the occurrence of episodes of atrial tachyarrythmias (e.g. atrial fibrillation, atrial tachycardia).


parents

Genetic cardiac rhythm disease


synonyms

Lown-Ganong-Levine syndrome

atrial tachycardia

http://www.ebi.ac.uk/efo/EFO_0005308

A disorder characterized by an electrocardiographic finding of an organized, regular atrial rhythm with atrial rate between 101 and 240 beats per minute. The P wave morphology must be distinct from the sinus P wave morphology. (CDISC)


parents

cardiac arrhythmia


children

atrial flutter

Atrichia with papular lesions

http://www.orpha.net/ORDO/Orphanet_86819

Atrichia with papular lesions is a rare inherited form of alopecia characterized by irreversible hair loss during the neonatal period on all hear-bearing areas of the body, later associated with the development of papular lesions all over the body and preferentially on the face and extensor surfaces of the extremities.


parents

Alopecia


synonyms

Papular atrichia

Atrioventricular defect - blepharophimosis -radial defects

http://www.orpha.net/ORDO/Orphanet_1352


parents

Syndromic developmental defect of the eye

Rare syndrome with cardiac malformations

Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability

Ptosis


synonyms

Houlston-Ironton-Temple syndrome

atrioventricular node

http://purl.obolibrary.org/obo/UBERON_0002352

Subdivision of conducting system of heart which is located in the muscular part of the interatrial septum that is continuous with the atrioventricular bundle.[FMA]


parents

heart component


synonyms

aschoff-tawara node

atrioventricular nodal muscle tissue

atriovetricular node

av nodal muscle tissue

av node

node of tawara

nodus atrioventricularis

atrioventricular node disease

http://www.ebi.ac.uk/efo/EFO_0005305

atrioventricular node disease is a form of heart disease in which the conduction of the atrioventricular nodes is disrupted


parents

conduction system disorder


synonyms

atrioventricular conduction block

atrioventricular conduction disease

atrioventricular ring

http://www.ebi.ac.uk/efo/EFO_0003707

A ring of conduction tissue that forms in the atrioventricular canal.


parents

zebrafish component


synonyms

AV ring

Atrophoderma vermiculata

http://www.orpha.net/ORDO/Orphanet_79100


parents

Keratosis pilaris atrophicans


synonyms

Folliculitis ulerythematosa reticulate

ATR-X-related syndrome

http://www.orpha.net/ORDO/Orphanet_263355


parents

Multiple congenital anomalies/dysmorphic syndrome-intellectual disability

X-linked syndromic intellectual disability


children

Alpha-thalassemia - X-linked intellectual disability syndrome

X-linked intellectual disability - hypotonic face

attention deficit hyperactivity disorder

http://www.ebi.ac.uk/efo/EFO_0003888

A behavior disorder originating in childhood in which the essential features are signs of developmentally inappropriate inattention, impulsivity, and hyperactivity. Although most individuals have symptoms of both inattention and hyperactivity-impulsivity, one or the other pattern may be predominant. The disorder is more frequent in males than females. Onset is in childhood. Symptoms often attenuate during late adolescence although a minority experience the full complement of symptoms into mid-adulthood. (From DSM-IV)


parents

mental or behavioural disorder


synonyms

ADDH

ADHD

ATTENTION DEFICIT DIS

Attention Deficit Disorder

Attention Deficit Disorders

Attention Deficit Disorders with Hyperactivity

Attention Deficit Disorder with Hyperactivity

ATTENTION DEFICIT DIS WITH HYPERACTIVITY

ATTENTION DEFICIT HYPERACTIVITY DIS

Attention Deficit Hyperactivity Disorders

Brain Dysfunction, Minimal

Deficit Disorder, Attention

Deficit Disorders, Attention

Disorder, Attention Deficit

Disorders, Attention Deficit

Dysfunction, Minimal Brain

Hyperkinetic Syndrome

Minimal Brain Dysfunction

Syndromes, Hyperkinetic

Attenuated Chédiak-Higashi syndrome

http://www.orpha.net/ORDO/Orphanet_352723

Attenuated Chédiak-Higashi syndrome (CHS) is a very rare and atypical form of CHS (see this term), a genetic disorder characterized by partial oculocutaneous albinism (OCA, see this term), severe immunodeficiency, mild bleeding, neurological dysfunction and lymphoproliferative disorder.


parents

Genetic neurodegenerative disease

Rare hereditary disease with peripheral neuropathy


synonyms

Atypical Chédiak-Higashi syndrome

Attenuated familial adenomatous polyposis

http://www.orpha.net/ORDO/Orphanet_220460

-related attenuated familial adenomatous polyposis.


parents

Inherited cancer-predisposing syndrome

Genetic digestive tract tumor

Genetic intestinal polyposis


children

APC-related attenuated familial adenomatous polyposis

AXIN2-related attenuated familial adenomatous polyposis

MUTYH-related attenuated familial adenomatous polyposis


synonyms

AFAP

Attenuated familial polyposis coli

Attenuated FAP

attomole

http://purl.obolibrary.org/obo/UO_0000044

An attomole is a substance unit equal to 10^-18 mol.

A substance unit equal to 10^[-18] mol.


parents

substance unit


synonyms

amol

Atypical autism

http://www.orpha.net/ORDO/Orphanet_199627

'Atypical autism is a pervasive developmental disorder that does not fit the diagnosis for the other specific autistic spectrum disorders (autism, Asperger syndrome, Rett syndrome or childhood disintegrative disorder; see these terms) and is characterized by usually milder developmental and social delay and less stereotypical autistic behavior. '


parents

Rare pervasive developmental disorder

Atypical dentin dysplasia due to SMOC2 deficiency

http://www.orpha.net/ORDO/Orphanet_314721


parents

Dentin dysplasia


synonyms

Dentin dysplasia type 1 with microdontia and shape anomalies

Atypical Gaucher disease due to saposin C deficiency

http://www.orpha.net/ORDO/Orphanet_309252


parents

Gaucher disease

Atypical glycine encephalopathy

http://www.orpha.net/ORDO/Orphanet_289863

Atypical glycine encephalopathy is a rare form of glycine encephalopathy (GE; see this term) presenting disease onset or clinical manifestations that differ from neonatal or infantile GE.


parents

Glycine encephalopathy


synonyms

Atypical NKA

Atypical non-ketotic hyperglycinemia

Atypical hemolytic-uremic syndrome

http://www.orpha.net/ORDO/Orphanet_2134


parents

Rare constitutional hemolytic anemia

Genetic thrombotic microangiopathy


children

Atypical hemolytic-uremic syndrome with anti-factor H antibodies

Atypical hemolytic-uremic syndrome with B factor anomaly

Atypical hemolytic-uremic syndrome with C3 anomaly

Atypical hemolytic-uremic syndrome with DGKE deficiency

Atypical hemolytic-uremic syndrome with H factor anomaly

Atypical hemolytic-uremic syndrome with I factor anomaly

Atypical hemolytic-uremic syndrome with MCP/CD46 anomaly

Atypical hemolytic-uremic syndrome with thrombomodulin anomaly


synonyms

aHUS

Atypical HUS

D-HUS

Hemolytic-uremic syndrome without diarrhea

Atypical hemolytic-uremic syndrome with anti-factor H antibodies

http://www.orpha.net/ORDO/Orphanet_93581


parents

Atypical hemolytic-uremic syndrome


synonyms

aHUS with anti-factor H antibodies

Atypical HUS with anti-factor H antibodies

D-HUS with anti-factor H antibodies

Hemolytic-uremic syndrome without diarrhea with anti-factor H antibodies

Atypical hemolytic-uremic syndrome with B factor anomaly

http://www.orpha.net/ORDO/Orphanet_93578


parents

Atypical hemolytic-uremic syndrome


synonyms

aHUS with B factor anomaly

Atypical HUS with B factor anomaly

D-HUS with B factor anomaly

Hemolytic-uremic syndrome without diarrhea with B factor anomaly

Atypical hemolytic-uremic syndrome with C3 anomaly

http://www.orpha.net/ORDO/Orphanet_93575


parents

Atypical hemolytic-uremic syndrome


synonyms

aHUS with C3 anomaly

Atypical HUS with C3 anomaly

D-HUS with C3 anomaly

Hemolytic-uremic syndrome without diarrhea with C3 anomaly

Atypical hemolytic-uremic syndrome with DGKE deficiency

http://www.orpha.net/ORDO/Orphanet_357008


parents

Atypical hemolytic-uremic syndrome


synonyms

aHUS with DGKE deficiency

Atypical HUS with DGKE deficiency

D-HUS with DGKE deficiency

Hemolytic-uremic syndrome without diarrhea with DGKE deficiency

Atypical hemolytic-uremic syndrome with H factor anomaly

http://www.orpha.net/ORDO/Orphanet_93579


parents

Atypical hemolytic-uremic syndrome


synonyms

aHUS with H factor anomaly

Atypical HUS with H factor anomaly

D-HUS with H factor anomaly

Hemolytic-uremic syndrome without diarrhea with H factor anomaly

Atypical hemolytic-uremic syndrome with I factor anomaly

http://www.orpha.net/ORDO/Orphanet_93580


parents

Atypical hemolytic-uremic syndrome


synonyms

aHUS with I factor anomaly

Atypical HUS with I factor anomaly

D-HUS with I factor anomaly

Hemolytic-uremic syndrome without diarrhea with I factor anomaly

Atypical hemolytic-uremic syndrome with MCP/CD46 anomaly

http://www.orpha.net/ORDO/Orphanet_93576


parents

Atypical hemolytic-uremic syndrome


synonyms

aHUS with MCP/CD46 anomaly

Atypical HUS with MCP/CD46 anomaly

D-HUS with MCP/CD46 anomaly

Hemolytic-uremic syndrome without diarrhea with MCP/CD46 anomaly

Atypical hemolytic-uremic syndrome with thrombomodulin anomaly

http://www.orpha.net/ORDO/Orphanet_217023


parents

Atypical hemolytic-uremic syndrome


synonyms

aHUS with thrombomodulin anomaly

Atypical HUS with thrombomodulin anomaly

D-HUS with thrombomodulin anomaly

Hemolytic-uremic syndrome without diarrhea with thrombomodulin anomaly

Atypical hypotonia - cystinuria syndrome

http://www.orpha.net/ORDO/Orphanet_238523


parents

Hypotonia - cystinuria type 1


synonyms

Atypical HCS

Atypical juvenile parkinsonism

http://www.orpha.net/ORDO/Orphanet_391411

Atypical juvenile parkinsonism is a complex form of young-onset Parkinson disease (YOPD; see this term) that manifests with pyramidal signs, cognitive disability, psychiatric (depression, anxiety, drug-induced psychosis, and impulse control disorders) and other neurological (such as ataxia and epilepsy) symptoms along with classical parkinsonian symptoms.


parents

Rare parkinsonian syndrome due to genetic neurodegenerative disease

Atypical Mayer-Rokitansky-Küster-Hauser syndrome

http://www.orpha.net/ORDO/Orphanet_247768


parents

Mayer-Rokitansky-Küster-Hauser syndrome

Syndrome with 46,XX disorder of sex development

Syndrome with disorder of sex development of gynecological interest


synonyms

Atypical MRKH syndrome

Atypical Rokitansky syndrome

WNT4 deficiency

Atypical Norrie disease due to monosomy Xp11.3

http://www.orpha.net/ORDO/Orphanet_261501


parents

Partial monosomy of the short arm of chromosome X


synonyms

Atypical Norrie disease due to del(X)(p11.3)

Atypical Norrie disease due to Xp11.3 microdeletion

Atypical pantothenate kinase-associated neurodegeneration

http://www.orpha.net/ORDO/Orphanet_216873


parents

Pantothenate kinase-associated neurodegeneration


synonyms

NBIA1, atypical form

Neurodegeneration with brain iron accumulation type 1, atypical form

PKAN, atypical form

Atypical progressive supranuclear palsy

http://www.orpha.net/ORDO/Orphanet_99750

Atypical progressive supranuclear palsy (atypical PSP) is a group of clinical syndromes associated with underlying PSP-tau pathology, that do not conform to the classic presentation of PSP (Richardson syndrome; see this term), a rare late-onset neurodegenerative disease. The group comprises PSP-Parkinsonism (PSP-P), PSP-Pure akinesia with gait freezing (PSP-PAGF), PSP-corticobasal syndrome (PSP-CBS) and PSP-progressive non fluent aphasia (PSP-PNFA) (see these terms).


parents

Progressive supranuclear palsy


children

Progressive supranuclear palsy - corticobasal syndrome

Progressive supranuclear palsy - parkinsonism

Progressive supranuclear palsy - progressive non fluent aphasia

Progressive supranuclear palsy - pure akinesia with gait freezing


synonyms

Atypical PSP

Atypical Rett syndrome

http://www.orpha.net/ORDO/Orphanet_3095


parents

Monogenic disease with epilepsy

Rare pervasive developmental disorder

Motor stereotypies

X-linked syndromic intellectual disability


synonyms

Atypical RTT

Rett syndrome variant

Atypical Werner syndrome

http://www.orpha.net/ORDO/Orphanet_79474

mutations, patients generally exhibit an aged appearance and common age-related disorders at earlier ages compared to the general population.


parents

Genetic progeroid syndrome


synonyms

Atypical progeroid syndrome

AU565

http://www.ebi.ac.uk/efo/EFO_0001087


parents

epithelial cell derived cell line

mammary gland cell line

Aureococcus anophagefferens

http://purl.obolibrary.org/obo/NCBITaxon_44056


parents

Eukaryota

Auricular abnormalities - cleft lip with or without cleft palate - ocular abnormalities

http://www.orpha.net/ORDO/Orphanet_77300


parents

Orofacial clefting syndrome

Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability

Auriculocondylar syndrome

http://www.orpha.net/ORDO/Orphanet_137888


parents

Oculo-auriculo-vertebral spectrum

Genetic branchial arch or oral-acral syndrome


synonyms

Question mark ear syndrome

Auriculoocular anomalies - cleft lip

http://www.orpha.net/ORDO/Orphanet_71270


parents

Orofacial clefting syndrome

Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability

Auriculoosteodysplasia

http://www.orpha.net/ORDO/Orphanet_114


parents

Primary bone dysplasia with multiple joint dislocations

Australian bat lyssavirus

http://purl.obolibrary.org/obo/NCBITaxon_90961


parents

Virus

Austrofundulus limnaeus

http://purl.obolibrary.org/obo/NCBITaxon_52670


parents

Eukaryota

autism

http://www.ebi.ac.uk/efo/EFO_0003758

A disorder beginning in childhood. It is marked by the presence of markedly abnormal or impaired development in social interaction and communication and a markedly restricted repertoire of activity and interest. Manifestations of the disorder vary greatly depending on the developmental level and chronological age of the individual. (DSM-IV)

An autism spectrum disease that is a disorder of neural development characterized by impaired social interaction and communication, and by restricted and repetitive behavior observed in children before a child is three years old.


parents

autism spectrum disorder


synonyms

Autism, Early Infantile

Autism, Infantile

Autisms

Autistic Disorder

Autistic disorder of childhood onset (disorder)

childhood autism

Disorder, Autistic

Disorders, Autistic

Early Infantile Autism

Infantile Autism

Infantile Autism, Early

Infantile autism (disorder)

Infantile psychosis (disorder)

Kanner's Syndrome

Kanners Syndrome

Kanner Syndrome

Syndrome, Kanner's

Autism-epilepsy syndrome due to branched chain ketoacid dehydrogenase kinase deficiency

http://www.orpha.net/ORDO/Orphanet_308410


parents

Disorder of branched-chain amino acid metabolism

Autism - facial port-wine stain

http://www.orpha.net/ORDO/Orphanet_137911


parents

Rare disease with autism

autism spectrum disorder

http://www.ebi.ac.uk/efo/EFO_0003756

A pervasive developmental disease that is a spectrum of psychological conditions characterized by widespread abnormalities of social interactions and communication, as well as severely restricted interests and highly repetitive behavior.

Severe distortions in the development of many basic psychological functions that are not normal for any stage in development. These distortions are manifested in sustained social impairment, speech abnormalities, and peculiar motor movements.

Wide continuum of associated cognitive and neurobehavioral disorders, including, but not limited to, three core-defining features: impairments in socialization, impairments in verbal and nonverbal communication, and restricted and repetitive patterns of behaviors. (DSM, 1994)


parents

nervous system disease


children

Asperger syndrome

autism

pervasive developmental disorder - not otherwise specified


synonyms

autism spectrum disease

Autism Spectrum Disorders

Child Development Disorders, Pervasive

CHILD DEVELOPMENT DIS PERVASIVE

Development Disorder, Pervasive

Development Disorders, Pervasive

Disorder, Autism Spectrum

Disorder, Pervasive Development

Disorders, Autism Spectrum

Disorders, Pervasive Development

PERVASIVE CHILD DEVELOPMENT DIS

Pervasive Child Development Disorders

Pervasive Development Disorder

Pervasive Development Disorders

Spectrum Disorder, Autism

Spectrum Disorders, Autism

Autism spectrum disorder due to AUTS2 deficiency

http://www.orpha.net/ORDO/Orphanet_352490


parents

Multiple congenital anomalies/dysmorphic syndrome-intellectual disability

Rare disease with autism

Rare genetic intellectual disability with developmental anomaly


synonyms

ASD due to AUTS2 deficiency

AUTS2 syndrome

Autism spectrum disorder-epilepsy-arthrogryposis syndrome

http://www.orpha.net/ORDO/Orphanet_370943


parents

Rare disease with autism

Disorder of protein N-glycosylation

Non-X-linked congenital disorder of glycosylation with intellectual disability as a major feature

Congenital disorder of glycosylation with epilepsy as a major feature

Congenital disorder of glycosylation with developmental anomaly

Distal arthrogryposis


synonyms

SLC35A3-CDG

autism spectrum disorder symptom

http://www.ebi.ac.uk/efo/EFO_0005426


parents

sign or symptom


children

social communication impairment

autoantibody measurement

http://www.ebi.ac.uk/efo/EFO_0004866

Is a quantification of an autoantibody, an antibody produced by the immune system and directed against an individual's own protein. e.g. anti-islet autoantibodies.


parents

antibody measurement

autoimmune disease

http://www.ebi.ac.uk/efo/EFO_0005140

Autoimmune disease or disorder is a disease characterized by an immune response of an organism against parts of itself causing pathology e.g. Graves' disease.


parents

immune system disease


children

anti-neutrophil antibody associated vasculitis

autoimmune hepatits type 1

autoimmune thyroid disease

Behcet's syndrome

cutaneous lupus erythematosus

Graves disease

inflammatory bowel disease

multiple sclerosis

Myasthenia gravis

pemphigus vulgaris

primary antiphospholipid syndrome

rheumatoid arthritis

Sjogren syndrome

systemic lupus erythematosus

type I diabetes mellitus

Vitiligo

Wegener's granulomatosis

Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome

http://www.orpha.net/ORDO/Orphanet_391487


parents

Immunodeficiency syndrome with autoimmunity

Genetic polyendocrinopathy

Genetic intractable diarrhea of infancy

autoimmune hepatits type 1

http://www.ebi.ac.uk/efo/EFO_0005676

Hepatitis caused by autoantibodies. Drugs, infections, and toxins may trigger the production of the autoantibodies against the liver parenchyma.


parents

liver disease

autoimmune disease

Autoimmune lymphoproliferative syndrome

http://www.orpha.net/ORDO/Orphanet_3261

Autoimmune lymphoproliferative syndrome (ALPS) is a rare, inherited disorder characterized by non-malignant lymphoproliferation, multilineage cytopenias, and a lifelong increased risk of Hodgkin's and non-Hodgkin's lymphoma.


parents

Immunodeficiency syndrome with autoimmunity

Lymphoproliferative syndrome


synonyms

ALPS

Canale-Smith syndrome

FAS deficiency

Autoimmune lymphoproliferative syndrome with recurrent viral infections

http://www.orpha.net/ORDO/Orphanet_275517

Autoimmune lymphoproliferative syndrome (ALPS) with recurrent viral infections is a rare genetic disorder characterized by lymphadenopathy and/or splenomegaly and recurrent infections due to herpes viruses.


parents

Immunodeficiency syndrome with autoimmunity

Lymphoproliferative syndrome


synonyms

ALPS with recurrent viral infections

Caspase 8 deficiency syndrome

Caspase eight deficiency state

CEDS

Autoimmune polyendocrinopathy type 1

http://www.orpha.net/ORDO/Orphanet_3453

Autoimmune polyendocrinopathy type 1, or APECED syndrome, is a genetic disease that manifests in childhood or early adolescence with a combination of chronic mucocutaneous candidiasis, hypoparathyroidism and autoimmune adrenal failure.


parents

Genetic chronic primary adrenal insufficiency

Immunodeficiency syndrome with autoimmunity

Genetic polyendocrinopathy

Genetic hypoparathyroidism


synonyms

APECED syndrome

APS1

APS type 1

Autoimmune hypoparathyroidism - chronic candidiasis - Addison's disease

Autoimmune hypoparathyroidism - chronic candidosis - Addison's disease

Autoimmune polyendocrine syndrome type 1

Autoimmune polyendocrinopathy - candidiasis - ectodermal dystrophy syndrome

Autoimmune polyendocrinopathy - candidosis - ectodermal dystrophy syndrome

Autoimmune polyglandular syndrome type 1

HAM syndrome

Hypoparathyroidism - Addison's disease - mucocutaneous candidiasis

Hypoparathyroidism - Addison's disease - mucocutaneous candidosis

MEDAC syndrome

Multiple endocrine deficiency - Addison's disease - candidiasis

Multiple endocrine deficiency - Addison's disease - candidosis

autoimmune thyroid disease

http://www.ebi.ac.uk/efo/EFO_0003779

An autoimmune disorder caused by the production of autoantibodies against thyroid tissue. There is progressive destruction of the thyroid follicles leading to hypothyroidism.

Inflammatory disease of the THYROID GLAND due to autoimmune responses leading to lymphocytic infiltration of the gland. It is characterized by the presence of circulating thyroid antigen-specific T-CELLS and thyroid AUTOANTIBODIES. The clinical signs can range from HYPOTHYROIDISM to THYROTOXICOSIS depending on the type of autoimmune thyroiditis.


parents

autoimmune disease


synonyms

Autoimmune Thyroiditides

Autoimmune Thyroiditis

Hashimoto's Thyroiditis

Hashimoto disease

Hashimoto Thyroiditis

Lymphocytic Thyroiditides

Lymphocytic Thyroiditis

Lymphomatous Thyroiditides

Lymphomatous Thyroiditis

Thyroiditides, Autoimmune

Thyroiditides, Lymphocytic

Thyroiditides, Lymphomatous

Thyroiditis, Autoimmune

Thyroiditis, Lymphocytic

Thyroiditis, Lymphomatous

Autoinflammatory syndrome with immune deficiency

http://www.orpha.net/ORDO/Orphanet_290839


parents

Primary immunodeficiency due to a defect in innate immunity


children

Blau syndrome

Cryopyrin-associated periodic syndrome

Familial Mediterranean fever

Hyperimmunoglobulinemia D with periodic fever

Majeed syndrome

PFAPA syndrome

Pyogenic arthritis - pyoderma gangrenosum - acne

Sterile multifocal osteomyelitis with periostitis and pustulosis

Tumor necrosis factor receptor 1 associated periodic syndrome

autopod

http://www.ebi.ac.uk/efo/EFO_0000877

The generic name for hand, paw, foot etc


parents

limb


synonyms

foot

hand

paw

Autosomal agammaglobulinemia

http://www.orpha.net/ORDO/Orphanet_33110

Agammaglobulinemia, non-Bruton type (autosomal agammaglobulinemia) is a rare form of agammaglobulinemia, a primary immunodeficiency disease, and is characterized by variable immune dysfunction with frequent and recurrent bacterial infections and/or chronic diarrhea.


parents

Isolated agammaglobulinemia


synonyms

Agammaglobulinemia, non-Bruton type

Autosomal anomaly

http://www.orpha.net/ORDO/Orphanet_98127


parents

Chromosomal anomaly


children

Autosomal monosomy

Autosomal trisomy

Autosomal uniparental disomy

Complex chromosomal rearrangement

Autosomal codominant severe lipodystrophic laminopathy

http://www.orpha.net/ORDO/Orphanet_280365


parents

Rare insulin-resistance syndrome

Familial partial lipodystrophy

Autosomal dominant Alport syndrome

http://www.orpha.net/ORDO/Orphanet_88918


parents

Alport syndrome

Autosomal dominant aplasia and myelodysplasia

http://www.orpha.net/ORDO/Orphanet_314399


parents

Rare constitutional medullar aplasia


synonyms

Autosomal dominant aplastic anemia and myelodysplasia

Autosomal dominant beta2-microglobulinic amyloidosis

http://www.orpha.net/ORDO/Orphanet_314652

#946;2M) leading to progressive gastrointestinal dysfunction, Sjögren syndrome (see this term) and autonomic neuropathy.


parents

Rare genetic systemic or rheumatologic disease

Autosomal dominant brachyolmia

http://www.orpha.net/ORDO/Orphanet_93304

Brachyolmia type 3 is an autosomal dominant,mildly severe form of brachyolmia (see this term), a group of rare genetic skeletal disorders, and is characterized by short stature, platyspondyly and severe kyphoscoliosis.


parents

Brachyolmia

TRPV4-related bone disorder


synonyms

Brachyolmia type 3

Autosomal dominant centronuclear myopathy

http://www.orpha.net/ORDO/Orphanet_169189


parents

Centronuclear myopathy


synonyms

AD-CNM

Autosomal dominant cerebellar ataxia

http://www.orpha.net/ORDO/Orphanet_99

Autosomal dominant cerebellar ataxia (ADCA) describes a clinically and genetically heterogeneous group of neurodegenerative diseases characterized by a slowly progressive ataxia of gait, stance and limbs, dysarthria and/or oculomotor disorder, due to cerebellar degeneration in the absence of coexisting diseases. The degenerative process can be limited to the cerebellum (ADCA type 3) or may additionally involve the retina (ADCA type 2), optic nerve, ponto-medullary systems, basal ganglia, cerebral cortex, spinal tracts or peripheral nerves (ADCA type 1) (see these terms). In ACDA type 4 (see this term), a cerebellar syndrome is associated with epilepsy.


parents

Rare hereditary ataxia

Late-onset ataxia with dementia

Spinocerebellar ataxia with oculomotor anomaly


children

Autosomal dominant cerebellar ataxia type 1

Autosomal dominant cerebellar ataxia type 2

Autosomal dominant cerebellar ataxia type 3

Autosomal dominant cerebellar ataxia type 4


synonyms

ADCA

Autosomal dominant spinocerebellar ataxia

Autosomal dominant cerebellar ataxia, deafness and narcolepsy

http://www.orpha.net/ORDO/Orphanet_314404

Autosomal dominant cerebellar ataxia, deafness and narcolepsy (ADCA-DN) is a polymorphic disorder and a subtype of autosomal dominant cerebellar ataxia type 1 (ADCA type 1; see this term) characterized by ataxia, sensorineural deafness and narcolepsy with cataplexy and dementia.


parents

Syndromic genetic deafness

Autosomal dominant cerebellar ataxia type 1


synonyms

ADCA-DN

Autosomal dominant cerebellar ataxia-deafness-narcolepsy syndrome

Autosomal dominant cerebellar ataxia type 1

http://www.orpha.net/ORDO/Orphanet_94145

Autosomal dominant cerebellar ataxia (ADCA) type 1 is a group of spinocerebellar ataxias (SCAs) characterized by ataxia with other neurological signs, including oculomotor disturbances, cognitive deficits, pyramidal and extrapyramidal dysfunction, bulbar, spinal and peripheral nervous system involvement.


parents

Autosomal dominant cerebellar ataxia


children

Autosomal dominant cerebellar ataxia, deafness and narcolepsy

Cerebellar ataxia - areflexia - pes cavus - optic atrophy - sensorineural hearing loss

Non-progressive cerebellar ataxia with intellectual disability

Spinocerebellar ataxia type 1

Spinocerebellar ataxia type 12

Spinocerebellar ataxia type 13

Spinocerebellar ataxia type 14

Spinocerebellar ataxia type 15/16

Spinocerebellar ataxia type 17

Spinocerebellar ataxia type 18

Spinocerebellar ataxia type 19/22

Spinocerebellar ataxia type 2

Spinocerebellar ataxia type 20

Spinocerebellar ataxia type 21

Spinocerebellar ataxia type 23

Spinocerebellar ataxia type 25

Spinocerebellar ataxia type 27

Spinocerebellar ataxia type 28

Spinocerebellar ataxia type 29

Spinocerebellar ataxia type 3

Spinocerebellar ataxia type 32

Spinocerebellar ataxia type 34

Spinocerebellar ataxia type 35

Spinocerebellar ataxia type 36

Spinocerebellar ataxia type 37

Spinocerebellar ataxia type 4

Spinocerebellar ataxia type 8


synonyms

ADCA1

ADCAI

Autosomal dominant cerebellar ataxia type I

Cerebellar plus syndrome

Autosomal dominant cerebellar ataxia type 2

http://www.orpha.net/ORDO/Orphanet_208508


parents

Autosomal dominant cerebellar ataxia


children

Spinocerebellar ataxia type 7


synonyms

ADCA2

ADCAII

Autosomal dominant cerebellar ataxia type II

Autosomal dominant cerebellar ataxia type 3

http://www.orpha.net/ORDO/Orphanet_94148

Autosomal dominant cerebellar ataxia (ACDA; see this term) type 3 is a group of neurodegenerative disorders characterized by mostly pure cerebellar syndromes with occasional non-cerebellar signs (e.g. pyramidal signs, peripheral neuropathy, writer's cramp) and includes spinocerebellar ataxia (SCA) type 5 (SCA5), SCA6, SCA11, SCA26, SCA30, and SCA31 (see these terms).


parents

Autosomal dominant cerebellar ataxia


children

Spinocerebellar ataxia type 11

Spinocerebellar ataxia type 26

Spinocerebellar ataxia type 30

Spinocerebellar ataxia type 31

Spinocerebellar ataxia type 5

Spinocerebellar ataxia type 6


synonyms

ADCA3

ADCAIII

Autosomal dominant cerebellar ataxia type III

Pure cerebellar syndrome - mild pyramidal signs

Autosomal dominant cerebellar ataxia type 4

http://www.orpha.net/ORDO/Orphanet_94149


parents

Autosomal dominant cerebellar ataxia


children

Dentatorubral pallidoluysian atrophy

Spinocerebellar ataxia type 10


synonyms

ADCA4

ADCAIV

Autosomal dominant cerebellar ataxia type IV

Autosomal dominant cervical dystonia

http://www.orpha.net/ORDO/Orphanet_93962

Cervical dystonia (CD) is the most common type of focal dystonia (see this term) and is characterized by overactive neck muscles with involuntary turning, tilting or twisting of the head which result in torticollis, laterocollis, retrocollis, and anterocollis.


parents

Focal, segmental or multifocal dystonia


synonyms

Autosomal dominant spasmodic torticollis

Autosomal dominant Charcot-Marie-Tooth disease type 2

http://www.orpha.net/ORDO/Orphanet_64746


parents

Autosomal dominant hereditary axonal motor and sensory neuropathy

Charcot-Marie-Tooth disease


children

Autosomal dominant Charcot-Marie-Tooth disease type 2A1

Autosomal dominant Charcot-Marie-Tooth disease type 2A2

Autosomal dominant Charcot-Marie-Tooth disease type 2B

Autosomal dominant Charcot-Marie-Tooth disease type 2C

Autosomal dominant Charcot-Marie-Tooth disease type 2D

Autosomal dominant Charcot-Marie-Tooth disease type 2 due to KIF5A mutation

Autosomal dominant Charcot-Marie-Tooth disease type 2 due to MARS mutation

Autosomal dominant Charcot-Marie-Tooth disease type 2E

Autosomal dominant Charcot-Marie-Tooth disease type 2F

Autosomal dominant Charcot-Marie-Tooth disease type 2G

Autosomal dominant Charcot-Marie-Tooth disease type 2I

Autosomal dominant Charcot-Marie-Tooth disease type 2J

Autosomal dominant Charcot-Marie-Tooth disease type 2K

Autosomal dominant Charcot-Marie-Tooth disease type 2L

Autosomal dominant Charcot-Marie-Tooth disease type 2M

Autosomal dominant Charcot-Marie-Tooth disease type 2N

Autosomal dominant Charcot-Marie-Tooth disease type 2O

Autosomal dominant Charcot-Marie-Tooth disease type 2P

Autosomal dominant Charcot-Marie-Tooth disease type 2Q

Autosomal dominant Charcot-Marie-Tooth disease type 2 with giant axons


synonyms

Autosomal dominant axonal Charcot-Marie-Tooth disease

CMT2

Hereditary motor and sensory neuropathy type 2

Autosomal dominant Charcot-Marie-Tooth disease type 2A1

http://www.orpha.net/ORDO/Orphanet_99946

Autosomal dominant Charcot-Marie-Tooth disease type 2A1 (CMT2A1) is a form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy. CMT2A presents with a more prominent muscle weakness in lower than upper limbs and frequent postural tremor.


parents

Autosomal dominant Charcot-Marie-Tooth disease type 2


synonyms

CMT2A1

Autosomal dominant Charcot-Marie-Tooth disease type 2A2

http://www.orpha.net/ORDO/Orphanet_99947


parents

Autosomal dominant Charcot-Marie-Tooth disease type 2


synonyms

CMT2A2

Autosomal dominant Charcot-Marie-Tooth disease type 2B

http://www.orpha.net/ORDO/Orphanet_99936

Autosomal dominant Charcot-Marie-Tooth disease type 2B (CMT2B) is a severe form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy. CMT2B onset, in the 2nd or 3rd decade, is characterized by ulcerations and infections of feet. Symmetric and distal weakness develops mostly in the legs together with a severe symmetric distal sensory loss, tendon reflexes are only reduced at ankles and foot deformities, including pes cavus or planus and hammer toes, appear in childhood.


parents

Autosomal dominant Charcot-Marie-Tooth disease type 2


synonyms

CMT2B

Autosomal dominant Charcot-Marie-Tooth disease type 2C

http://www.orpha.net/ORDO/Orphanet_99937

Autosomal dominant Charcot-Marie-Tooth disease type 2C (CMT2C) is a form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy, characterized by the association of vocal cord anomalies, impairment of respiratory muscles and sensorineural hearing loss with the distal hands and feet weakness. Onset is between infancy and the 6th decade.


parents

Autosomal dominant Charcot-Marie-Tooth disease type 2


synonyms

CMT2C

Autosomal dominant Charcot-Marie-Tooth disease type 2D

http://www.orpha.net/ORDO/Orphanet_99938

Autosomal dominant Charcot-Marie-Tooth disease type 2D (CMT2D) is a form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy, characterized by distal weakness primarily and predominantly occurring in the upper limbs and tendon reflexes absent or reduced in the arms and decreased in the legs. Progression is slow.


parents

Autosomal dominant Charcot-Marie-Tooth disease type 2


synonyms

CMT2D

Autosomal dominant Charcot-Marie-Tooth disease type 2 due to KIF5A mutation

http://www.orpha.net/ORDO/Orphanet_324611


parents

Autosomal dominant Charcot-Marie-Tooth disease type 2


synonyms

CMT due to KIF5A mutation

Autosomal dominant Charcot-Marie-Tooth disease type 2 due to MARS mutation

http://www.orpha.net/ORDO/Orphanet_397735


parents

Autosomal dominant Charcot-Marie-Tooth disease type 2


synonyms

CMT due to MARS mutation

Autosomal dominant Charcot-Marie-Tooth disease type 2E

http://www.orpha.net/ORDO/Orphanet_99939

Autosomal dominant Charcot-Marie-Tooth disease type 2E (CMT2E) is a form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy. CMT2E onset is in the first to 6th decade with a gait anomaly and a leg weakness that reaches the arms secondarily. Tendon reflexes are reduced or absent and, after years, all patients have a pes cavus. Other signs may be present, including hearing loss and postural tremor.


parents

Autosomal dominant Charcot-Marie-Tooth disease type 2


synonyms

CMT2E

Autosomal dominant Charcot-Marie-Tooth disease type 2F

http://www.orpha.net/ORDO/Orphanet_99940

Autosomal dominant Charcot-Marie-Tooth disease type 2F (CMT2F) is a form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy. CMT2F is characterized by symmetric weakness primarily occurring in the lower limbs (distal muscles in a majority of cases) and reaching the arms only after 5 to 10 years, occasional and predominantly distal sensory loss and reduced tendon reflexes. CMT2F presents with gait anomaly between the 1st and 6th decade and early onset is generally associated to a more severe phenotype which may include foot drop.


parents

Autosomal dominant Charcot-Marie-Tooth disease type 2


synonyms

CMT2F

Autosomal dominant Charcot-Marie-Tooth disease type 2G

http://www.orpha.net/ORDO/Orphanet_99941

Autosomal dominant Charcot-Marie-Tooth disease type 2G (CMT2G) is a form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy. CMT2G [has only been described in 1 familly and] onset is associated to development of foot deformity and walking difficulties between the 1st and the 8th decades, with a median range in the 2nd one. Weakness and sensory loss involve primarily the legs and ankles tendon reflexes are reduced. CMT2G has a slowly progressive course.


parents

Autosomal dominant Charcot-Marie-Tooth disease type 2


synonyms

CMT2G

Autosomal dominant Charcot-Marie-Tooth disease type 2I

http://www.orpha.net/ORDO/Orphanet_99942

Autosomal dominant Charcot-Marie-Tooth disease type 2I (CMT2I) is a form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy, characterized by a late onset with severe sensory loss (paresthesia and hypoesthesia) associated with distal weakness, mainly of the legs, and absent or reduced deep tendon reflexes.


parents

Autosomal dominant Charcot-Marie-Tooth disease type 2


synonyms

CMT2I

Autosomal dominant Charcot-Marie-Tooth disease type 2J

http://www.orpha.net/ORDO/Orphanet_99943

Autosomal dominant Charcot-Marie-Tooth disease type 2J (CMT2J) is a form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy, characterized by a relatively late onset, papillary abnormalities and deafness, in most patients, associated with distal weakness and muscle atrophy.


parents

Autosomal dominant Charcot-Marie-Tooth disease type 2


synonyms

CMT2J

Autosomal dominant Charcot-Marie-Tooth disease type 2K

http://www.orpha.net/ORDO/Orphanet_99944


parents

Autosomal dominant Charcot-Marie-Tooth disease type 2


synonyms

CMT2K

Autosomal dominant Charcot-Marie-Tooth disease type 2L

http://www.orpha.net/ORDO/Orphanet_99945

Autosomal dominant Charcot-Marie-Tooth disease type 2L (CMT2L) is a form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy. In the single family reported to date, CMT2L onset is between 15 and 33 years. Patients present with a symmetric distal weakness of legs and occasionally of the hands, absent or reduced tendon reflexes, distal legs sensory loss and frequently a pes cavus. Progression is slow.


parents

Autosomal dominant Charcot-Marie-Tooth disease type 2


synonyms

CMT2L

Autosomal dominant Charcot-Marie-Tooth disease type 2M

http://www.orpha.net/ORDO/Orphanet_228179

Autosomal dominant Charcot-Marie-Tooth disease type 2M (CMT2M) is a form of axonal Charcot-Marie-Tooth disease, a peripheral motor and sensory neuropathy. CMT2M is characterized by congenital pstosis and early cataract associated to a mildly progressive peripheral neuropathy of variable onset from birth to the 6th decade, pes cavus, reduced to absent ankles tendon reflexes and sometimes neutropenia.


parents

Autosomal dominant Charcot-Marie-Tooth disease type 2


synonyms

CMT2M

Autosomal dominant Charcot-Marie-Tooth disease type 2N

http://www.orpha.net/ORDO/Orphanet_228174

Autosomal dominant Charcot-Marie-Tooth disease type 2N (CMT2N) is a mild form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy, characterized by distal legs sensory loss and weakness that can be asymmetric. Tendon reflexes are reduced in the knees and absent in ankles. Progression is slow.


parents

Autosomal dominant Charcot-Marie-Tooth disease type 2


synonyms

CMT2N

Autosomal dominant Charcot-Marie-Tooth disease type 2O

http://www.orpha.net/ORDO/Orphanet_284232


parents

Autosomal dominant Charcot-Marie-Tooth disease type 2


synonyms

CMT2O

Autosomal dominant Charcot-Marie-Tooth disease type 2P

http://www.orpha.net/ORDO/Orphanet_300319


parents

Autosomal dominant Charcot-Marie-Tooth disease type 2


synonyms

CMT2P

Autosomal dominant Charcot-Marie-Tooth disease type 2Q

http://www.orpha.net/ORDO/Orphanet_329258


parents

Autosomal dominant Charcot-Marie-Tooth disease type 2


synonyms

CMT2Q

Autosomal dominant Charcot-Marie-Tooth disease type 2 with giant axons

http://www.orpha.net/ORDO/Orphanet_401964


parents

Autosomal dominant Charcot-Marie-Tooth disease type 2


synonyms

Autosomal dominant hereditary motor and sensory neuropathy type 2 with giant axons

CMT2 with giant axons

HMSN2 with giant axons

Autosomal dominant childhood-onset cortical cataract

http://www.orpha.net/ORDO/Orphanet_306561


parents

Early-onset non-syndromic cataract


synonyms

Autosomal dominant childhood-onset progressive cortical cataract

Autosomal dominant childhood-onset proximal spinal muscular atrophy

http://www.orpha.net/ORDO/Orphanet_363447


parents

Autosomal dominant proximal spinal muscular atrophy


children

Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures

Autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures


synonyms

Lower extremity-predominant autosomal dominant proximal spinal muscular atrophy

SMALED

Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures

http://www.orpha.net/ORDO/Orphanet_363454


parents

Autosomal dominant childhood-onset proximal spinal muscular atrophy


synonyms

Lower extremity-predominant autosomal dominant proximal spinal muscular atrophy with contractures

SMALED2

Autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures

http://www.orpha.net/ORDO/Orphanet_209341


parents

Autosomal dominant childhood-onset proximal spinal muscular atrophy


synonyms

Lower extremity-predominant autosomal dominant proximal spinal muscular atrophy without contractures

SMALED1

Autosomal dominant chondrodysplasia punctata

http://www.orpha.net/ORDO/Orphanet_79344


parents

Non-rhizomelic chondrodysplasia punctata


synonyms

Chondrodysplasia punctata, Sheffield type

Autosomal dominant complex spastic paraplegia

http://www.orpha.net/ORDO/Orphanet_100979


parents

Complex hereditary spastic paraplegia


children

Autosomal dominant spastic paraplegia type 17

Autosomal dominant spastic paraplegia type 29

Autosomal dominant spastic paraplegia type 36

Autosomal dominant spastic paraplegia type 38

Autosomal dominant spastic paraplegia type 9

Spastic paraplegia - epilepsy - intellectual disability

Spastic paraplegia - facial-cutaneous lesions

Spastic paraplegia - nephritis - deafness

Spastic paraplegia - neuropathy - poikiloderma

Spastic paraplegia - Paget disease of bone

Spastic paraplegia - precocious puberty


synonyms

Autosomal dominant complex HSP

Autosomal dominant complex SPG

Autosomal dominant complicated HSP

Autosomal dominant complicated spastic paraplegia

Autosomal dominant complicated SPG

Autosomal dominant congenital benign spinal muscular atrophy

http://www.orpha.net/ORDO/Orphanet_1216


parents

Autosomal dominant distal hereditary motor neuropathy


synonyms

Autosomal dominant benign distal spinal muscular atrophy

Congenital benign spinal muscular atrophy with contractures

Congenital nonprogressive spinal muscular atrophy

Autosomal dominant cutis laxa

http://www.orpha.net/ORDO/Orphanet_90348

Autosomal dominant cutis laxa (ADCL) is a connective tissue disorder characterized by wrinkled, redundant and sagging inelastic skin associated in some cases with internal organ involvement.


parents

Cutis laxa


synonyms

ADCL

Autosomal dominant deafness-onychodystrophy syndrome

http://www.orpha.net/ORDO/Orphanet_79499

Dominant deafness-onychodystrophy (DDOD) syndrome is a multiple congenital anomalies syndrome characterized by congenital hearing impairment, small or absent nails on the hands and feet, and small terminal phalanges.


parents

Deafness-onychodystrophy syndrome


synonyms

DDOD syndrome

Autosomal dominant diffuse mutilating palmoplantar keratoderma

http://www.orpha.net/ORDO/Orphanet_307773


parents

Autosomal dominant disease with diffuse palmoplantar keratoderma as a major feature


children

Keratoderma hereditarium mutilans

Keratoderma hereditarium mutilans with ichthyosis

Keratosis linearis-ichthyosis congenita-sclerosing keratoderma syndrome

Mutilating palmoplantar keratoderma with periorificial keratotic plaques


synonyms

Autosomal dominant diffuse mutilating palmoplantar hyperkeratosis

Autosomal dominant disease associated with focal palmoplantar keratoderma as a major feature

http://www.orpha.net/ORDO/Orphanet_98353


parents

Disease with focal palmoplantar keratoderma as a major feature


children

Focal palmoplantar and gingival keratoderma

Hypotrichosis-osteolysis-periodontitis-palmoplantar keratoderma syndrome

Pachyonychia congenita

Palmoplantar keratoderma-esophageal carcinoma syndrome


synonyms

Autosomal dominant disease associated with focal palmoplantar hyperkeratosis as a major feature

Autosomal dominant disease associated with punctate palmoplantar keratoderma as a major feature

http://www.orpha.net/ORDO/Orphanet_308031


parents

Disease with punctate palmoplantar keratoderma as a major feature


children

Hyperkeratosis-hyperpigmentation syndrome

Hypopigmentation-punctate palmoplantar keratoderma syndrome

Palmoplantar keratoderma-spastic paralysis syndrome


synonyms

Autosomal dominant disease associated with punctate palmoplantar hyperkeratosis as a major feature

Autosomal dominant disease with diffuse palmoplantar keratoderma as a major feature

http://www.orpha.net/ORDO/Orphanet_98352


parents

Disease with diffuse palmoplantar keratoderma as a major feature


children

Autosomal dominant diffuse mutilating palmoplantar keratoderma

Autosomal dominant palmoplantar keratoderma and congenital alopecia

Corneal intraepithelial dyskeratosis with palmoplantar hyperkeratosis and laryngeal dyskeratosis

Curly hair-acral keratoderma-caries syndrome

Dermatopathia pigmentosa reticularis

Diffuse palmoplantar keratoderma-acrocyanosis syndrome

Hidrotic ectodermal dysplasia

Keratosis palmaris et plantaris - clinodactyly

KID syndrome

Knuckle pads-leukonychia-sensorineural deafness-palmoplantar hyperkeratosis syndrome

Naegeli-Franceschetti-Jadassohn syndrome

Palmoplantar keratoderma-deafness syndrome

Palmoplantar keratoderma-sclerodactyly syndrome

Progressive symmetric erythrokeratodermia


synonyms

Autosomal dominant disease with diffuse palmoplantar hyperkeratosis as a major feature

Autosomal dominant distal hereditary motor neuropathy

http://www.orpha.net/ORDO/Orphanet_140465


parents

Distal spinal muscular atrophy

Distal hereditary motor neuropathy


children

Autosomal dominant congenital benign spinal muscular atrophy

Autosomal dominant spastic paraplegia type 17

Distal hereditary motor neuropathy type 1

Distal hereditary motor neuropathy type 2

Distal hereditary motor neuropathy type 5

Distal hereditary motor neuropathy type 7

Peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome


synonyms

Autosomal dominant dHMN

Autosomal dominant distal spinal muscular atrophy

Autosomal dominant distal myopathy

http://www.orpha.net/ORDO/Orphanet_206650


parents

Distal myopathy


children

Adult-onset distal myopathy due to VCP mutation

Alpha-B crystallin-related late-onset distal myopathy

Desminopathy

Distal myopathy, Welander type

Distal myopathy with early respiratory muscle involvement

Distal myopathy with posterior leg and anterior hand involvement

Distal myopathy with vocal cord weakness

Distal myotilinopathy

Finnish upper limb-onset distal myopathy

KLHL9-related childhood-onset distal myopathy

Laing early-onset distal myopathy

Late-onset distal myopathy, Markesbery-Griggs type

Peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome

Tibial muscular dystrophy

Autosomal dominant distal renal tubular acidosis

http://www.orpha.net/ORDO/Orphanet_93608

Autosomal dominant distal renal tubular acidosis is an inherited form of distal renal tubular acidosis (dRTA; see this term) characterized by hyperchloremic metabolic acidosis often but not always associated with hypokalemia.


parents

Distal renal tubular acidosis


synonyms

AD dRTA

Autosomal dominant dopa-responsive dystonia

http://www.orpha.net/ORDO/Orphanet_98808

Autosomal dominant dopa-responsive dystonia (DYT5a) is a rare neurometabolic disorder characterized by childhood-onset dystonia that shows a dramatic and sustained response to low doses of levodopa (L-dopa) and that may be associated with parkinsonism at an older age.


parents

Dopa-responsive dystonia

Disorder of pterin metabolism


synonyms

Autosomal dominant Segawa syndrome

DYT5a

GTPCH1-deficient dopa-responsive dystonia

GTPCH1-deficient DRD

Hereditary progressive dystonia with marked diurnal fluctuation

HPD with marked diurnal fluctuation

Autosomal dominant Emery-Dreifuss muscular dystrophy

http://www.orpha.net/ORDO/Orphanet_98853


parents

Emery-Dreifuss muscular dystrophy


synonyms

EDMD2

Autosomal dominant epilepsy with auditory features

http://www.orpha.net/ORDO/Orphanet_101046


parents

Familial partial epilepsy


synonyms

ADEAF

ADLTE

ADPEAF

Autosomal dominant lateral temporal lobe epilepsy

Partial epilepsy with auditory aura

Partial epilepsy with auditory features

Autosomal dominant familial hematuria - retinal arteriolar tortuosity - contractures

http://www.orpha.net/ORDO/Orphanet_73229


parents

Genetic central nervous system and retinal vascular disease

Basement membrane disease


synonyms

HANAC syndrome

Hereditary angiopathy-nephropathy-aneurysms-muscle cramps syndrome

Autosomal dominant focal dystonia, DYT25

http://www.orpha.net/ORDO/Orphanet_329466

Autosomal dominant focal dystonia, DTY25 is a form of focal dystonia (see this term), characterized by cervical, laryngeal and hand-forearm dystonia (see these terms).


parents

Focal, segmental or multifocal dystonia

Autosomal dominant focal dystonia, DYT7 type

http://www.orpha.net/ORDO/Orphanet_93963

Focal dystonia DYT7 type is characterized by predominantly cervical and laryngeal dystonia, and postural tremor.


parents

Focal, segmental or multifocal dystonia


synonyms

Adult-onset focal torsion dystonia

Adult-onset idiopathic torsion dystonia

DYT7

Autosomal dominant focal non-epidermolytic palmoplantar keratoderma with plantar blistering

http://www.orpha.net/ORDO/Orphanet_402003


parents

Isolated focal palmoplantar keratoderma

Autosomal dominant hereditary axonal motor and sensory neuropathy

http://www.orpha.net/ORDO/Orphanet_140456


parents

Hereditary motor and sensory neuropathy


children

Autosomal dominant Charcot-Marie-Tooth disease type 2

Autosomal dominant optic atrophy plus syndrome

Hereditary motor and sensory neuropathy, Okinawa type

Hereditary motor and sensory neuropathy type 5

Hereditary motor and sensory neuropathy type 6

Autosomal dominant hereditary demyelinating motor and sensory neuropathy

http://www.orpha.net/ORDO/Orphanet_140453


parents

Hereditary motor and sensory neuropathy


children

Autosomal dominant slowed nerve conduction velocity

Charcot-Marie-Tooth disease type 1

Hereditary neuropathy with liability to pressure palsies

Hereditary thermosensitive neuropathy

Neuropathy with hearing impairment

Roussy-Lévy syndrome

Autosomal dominant hereditary sensory and autonomic neuropathy

http://www.orpha.net/ORDO/Orphanet_140474


parents

Hereditary sensory and autonomic neuropathy


children

Chronic diarrhea with hereditary sensory and autonomic neuropathy

Erythromelalgia

Hereditary sensory and autonomic neuropathy type 1

Hereditary sensory and autonomic neuropathy type 1B

Hereditary sensory and autonomic neuropathy type 7

Primary erythermalgia

Autosomal dominant hyper-IgE syndrome

http://www.orpha.net/ORDO/Orphanet_2314

2000 IU/ml), recurring staphylococcal skin abscesses, and recurrent pneumonia with formation of pneumatoceles.


parents

Genetic immune deficiency with skin involvement

Hyper-IgE syndrome


synonyms

AD-HIES

Autosomal dominant HIES

Autosomal dominant hyperimmunoglobulin E syndrome

Buckley syndrome

Hyperimmunoglobulin E-recurrent infection syndrome

Hyperimmunoglobulin E syndrome type 1

Job syndrome

STAT3 deficiency

Autosomal dominant hyperinsulinism due to Kir6.2 deficiency

http://www.orpha.net/ORDO/Orphanet_276580


parents

Diazoxide-sensitive diffuse hyperinsulinism


synonyms

Autosomal dominant hyperinsulinemic hypoglycemia due to Kir6.2 deficiency

Autosomal dominant hyperinsulinism due to SUR1 deficiency

http://www.orpha.net/ORDO/Orphanet_276575


parents

Diazoxide-sensitive diffuse hyperinsulinism


synonyms

Autosomal dominant hyperinsulinemic hypoglycemia due to SUR1 deficiency

Autosomal dominant hypocalcemia

http://www.orpha.net/ORDO/Orphanet_428

Autosomal dominant hypocalcemia (AD hypocalcemia) is a disorder of calcium homeostasis characterized by variable degrees of hypocalcemia with abnormally low levels of parathyroid hormone (PTH) and persistant normal or elevated calciuria.


parents

calcium metabolic disease

Familial isolated hypoparathyroidism


synonyms

AD hypocalcemia

Autosomal dominant hypohidrotic ectodermal dysplasia

http://www.orpha.net/ORDO/Orphanet_1810


parents

Hypohidrotic ectodermal dysplasia


synonyms

AD-HED

Autosomal dominant anhidrotic ectodermal dysplasia

Autosomal dominant hypophosphatemic rickets

http://www.orpha.net/ORDO/Orphanet_89937

Autosomal dominant hypophosphatemic rickets (ADHR) is a hereditary renal phosphate-wasting disorder characterized by hypophosphatemia, rickets and/or osteomalacia.


parents

Hypophosphatemic rickets


synonyms

ADHR

Autosomal dominant hypophosphatemia

Autosomal dominant intermediate Charcot-Marie-Tooth disease

http://www.orpha.net/ORDO/Orphanet_90114


parents

Hereditary motor and sensory neuropathy

Charcot-Marie-Tooth disease


children

Autosomal dominant intermediate Charcot-Marie-Tooth disease type A

Autosomal dominant intermediate Charcot-Marie-Tooth disease type B

Autosomal dominant intermediate Charcot-Marie-Tooth disease type C

Autosomal dominant intermediate Charcot-Marie-Tooth disease type D

Autosomal dominant intermediate Charcot-Marie-Tooth disease type E

Autosomal dominant intermediate Charcot-Marie-Tooth disease type F

Autosomal dominant intermediate Charcot-Marie-Tooth disease with neuropathic pain


synonyms

CMTDI

Autosomal dominant intermediate Charcot-Marie-Tooth disease type A

http://www.orpha.net/ORDO/Orphanet_100043


parents

Autosomal dominant intermediate Charcot-Marie-Tooth disease


synonyms

CMTDIA

Autosomal dominant intermediate Charcot-Marie-Tooth disease type B

http://www.orpha.net/ORDO/Orphanet_100044


parents

Autosomal dominant intermediate Charcot-Marie-Tooth disease


synonyms

CMTDIB

Autosomal dominant intermediate Charcot-Marie-Tooth disease type C

http://www.orpha.net/ORDO/Orphanet_100045


parents

Autosomal dominant intermediate Charcot-Marie-Tooth disease


synonyms

CMTDIC

Autosomal dominant intermediate Charcot-Marie-Tooth disease type D

http://www.orpha.net/ORDO/Orphanet_100046


parents

Autosomal dominant intermediate Charcot-Marie-Tooth disease


synonyms

CMTDID

Autosomal dominant intermediate Charcot-Marie-Tooth disease type E

http://www.orpha.net/ORDO/Orphanet_93114


parents

Primary glomerular disease

Autosomal dominant intermediate Charcot-Marie-Tooth disease


synonyms

Charcot-Marie-Tooth disease - nephropathy

CMTDIE

Autosomal dominant intermediate Charcot-Marie-Tooth disease type F

http://www.orpha.net/ORDO/Orphanet_352670


parents

Autosomal dominant intermediate Charcot-Marie-Tooth disease


synonyms

CMTDIF

Autosomal dominant intermediate Charcot-Marie-Tooth disease with neuropathic pain

http://www.orpha.net/ORDO/Orphanet_324585


parents

Autosomal dominant intermediate Charcot-Marie-Tooth disease

Autosomal dominant isolated diffuse palmoplantar keratoderma

http://www.orpha.net/ORDO/Orphanet_98349


parents

Isolated diffuse palmoplantar keratoderma


children

Diffuse palmoplantar keratoderma with painful fissures

Epidermolytic palmoplantar keratoderma

Non-epidermolytic palmoplantar keratoderma

Transgrediens et progrediens palmoplantar keratoderma


synonyms

Autosomal dominant isolated diffuse palmoplantar hyperkeratosis

Autosomal dominant Kenny-Caffey syndrome

http://www.orpha.net/ORDO/Orphanet_93325


parents

Kenny-Caffey syndrome

Autosomal dominant keratitis

http://www.orpha.net/ORDO/Orphanet_2334


parents

Corneal dystrophy


synonyms

Hereditary keratitis

Autosomal dominant Larsen syndrome

http://www.orpha.net/ORDO/Orphanet_503

Larsen syndrome (LS) is a rare skeletal dysplasia characterized by congenital dislocation of large joints, foot deformities, cervical spine dysplasia, scoliosis, spatula-shaped distal phalanges and distinctive craniofacial abnormalities, including cleft palate.


parents

Malformation syndrome with connective tissue involvement

Orofacial clefting syndrome

Filamin-related bone disorder

Primary bone dysplasia with multiple joint dislocations

Autosomal dominant limb-girdle muscular dystrophy

http://www.orpha.net/ORDO/Orphanet_102014


parents

Limb-girdle muscular dystrophy


children

Autosomal dominant limb-girdle muscular dystrophy type 1A

Autosomal dominant limb-girdle muscular dystrophy type 1B

Autosomal dominant limb-girdle muscular dystrophy type 1C

Autosomal dominant limb-girdle muscular dystrophy type 1D

Autosomal dominant limb-girdle muscular dystrophy type 1E

Autosomal dominant limb-girdle muscular dystrophy type 1F

Autosomal dominant limb-girdle muscular dystrophy type 1G

Autosomal dominant limb-girdle muscular dystrophy type 1H

Autosomal dominant limb-girdle muscular dystrophy type 1A

http://www.orpha.net/ORDO/Orphanet_266

Autosomal dominant limb-girdle muscular dystrophy type 1A (LGMD1A) is a limb girdle muscular dystrophy (LMGD; see this term) a myotilinopathy, characterized by limb-girdle weakness in combination with dysarthria.


parents

Autosomal dominant limb-girdle muscular dystrophy

Qualitative or quantitative defects of myotilin


synonyms

LGMD1A

Limb-girdle muscular dystrophy due to myotilin deficiency

Autosomal dominant limb-girdle muscular dystrophy type 1B

http://www.orpha.net/ORDO/Orphanet_264

Autosomal dominant limb-girdle muscular dystrophy type 1B (LGMD1B) is a limb girdle muscular dystrophy (LMGD; see this term)a laminopathy, characterized by progressive limb girdle weakness, usually affecting the pelvic girdle before humeral muscles, mild jointoint contractures, age-related atrioventricular cardiac conduction disturbances and dilated cardiomyopathyinvolvement is frequently associated.


parents

Autosomal dominant limb-girdle muscular dystrophy

Neuromuscular disease with dilated cardiomyopathy


synonyms

LGMD1B

Limb-girdle muscular dystrophy due to lamin A/C deficiency

Autosomal dominant limb-girdle muscular dystrophy type 1C

http://www.orpha.net/ORDO/Orphanet_265

Autosomal dominant limb-girdle muscular dystrophy type 1C (LGMD1C) is a limb girdle muscular dystrophy (LGMD; see this term) caveolinopathy characterized by weakness in limb-girdle muscles, calf muscle hypertrophy and lack of respiratory and cardiac involvement.


parents

Autosomal dominant limb-girdle muscular dystrophy

Qualitative or quantitative defects of caveolin-3


synonyms

LGMD1C

Limb-girdle muscular dystrophy due to caveolin-3 deficiency

Autosomal dominant limb-girdle muscular dystrophy type 1D

http://www.orpha.net/ORDO/Orphanet_34516

Autosomal dominant limb-girdle muscular dystrophy type 1D (LGMD1D) is a limb girdle muscular dystrophy (LGMD ; see this term) characterized by muscular weakness, primarily affecting the pelvic and shoulder girdles with no bulbar weakness or dysarthria.


parents

Autosomal dominant limb-girdle muscular dystrophy


synonyms

LGMD1D

Autosomal dominant limb-girdle muscular dystrophy type 1E

http://www.orpha.net/ORDO/Orphanet_34517

Autosomal dominant limb-girdle muscular dystrophy type 1E (LGMD1E) is a limb-girdle muscular dystrophy (LGMD) . ;(see this term) characterized by skeletal/ and cardiac myopathy with cardiac conduction defects and musle cytoplasmic inclusions.


parents

Autosomal dominant limb-girdle muscular dystrophy


synonyms

LGMD1E

Autosomal dominant limb-girdle muscular dystrophy type 1F

http://www.orpha.net/ORDO/Orphanet_55595

Autosomal dominant limb-girdle muscular dystrophy type 1F (LGMD1F) is a form of limb girdle muscular dystrophy (LGMD) ; (see this term) characterized by muscle weakness affecting earlier the pelvic girdle and especially the ileopsoas muscle. Respiratory impairment may be observed in advanced stages.


parents

Autosomal dominant limb-girdle muscular dystrophy


synonyms

LGMD1F

Autosomal dominant limb-girdle muscular dystrophy type 1G

http://www.orpha.net/ORDO/Orphanet_55596

Autosomal dominant limb girdle muscular dystrophy (LGMD1G) is a mild form of limb girdle muscular dystrophy (LGMD;see this term), that is characterized by a limb-girdle weakness, marked proximal amyotrophy and abolished myotatic reflexes, associated with progressive fingers and toes flexion limitation.


parents

Autosomal dominant limb-girdle muscular dystrophy


synonyms

LGMD1G

Autosomal dominant limb-girdle muscular dystrophy type 1H

http://www.orpha.net/ORDO/Orphanet_238755


parents

Autosomal dominant limb-girdle muscular dystrophy


synonyms

LGMD1H

Autosomal dominant macrothrombocytopenia

http://www.orpha.net/ORDO/Orphanet_140957

This syndrome is characterized by congenital thrombocytopenia associated with the presence of large platelets.


parents

Inherited giant platelet disorder

Autosomal dominant medullary cystic kidney disease with hyperuricemia

http://www.orpha.net/ORDO/Orphanet_88950


parents

Autosomal dominant medullary cystic kidney disease with or without hyperuricemia

Autosomal dominant medullary cystic kidney disease with or without hyperuricemia

http://www.orpha.net/ORDO/Orphanet_34149


parents

Familial cystic renal disease


children

Autosomal dominant medullary cystic kidney disease with hyperuricemia

Autosomal dominant medullary cystic kidney disease without hyperuricemia

Autosomal dominant medullary cystic kidney disease without hyperuricemia

http://www.orpha.net/ORDO/Orphanet_88949


parents

Autosomal dominant medullary cystic kidney disease with or without hyperuricemia

Autosomal dominant mendelian susceptibility to mycobacterial diseases due to a partial deficiency

http://www.orpha.net/ORDO/Orphanet_319543

Autosomal dominant (AD) mendelian susceptibility to mycobacterial diseases (MSMD) due to a partial deficiency describes a group of variants of MSMD (see this term) due to dominantly inherited partial deficiencies in interferon gamma receptor 1 (IFN-gammaR1), IFN-gammaR2, signal transducer and activator of transcription 1 (STAT1) or interferon regulator factor 8 (IRF8) (see these terms).


parents

Mendelian susceptibility to mycobacterial diseases


children

Autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency

Autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR2 deficiency

Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency

Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency


synonyms

Autosomal dominant MSMD due to a partial deficiency

Autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency

http://www.orpha.net/ORDO/Orphanet_319581

Autosomal dominant (AD) mendelian susceptibility to mycobacterial diseases (MSMD) due to partial interferon gamma receptor 1 (IFN-gammaR1) deficiency is a genetic variant of MSMD (see this term) characterized by a partial deficiency leading to impaired IFN-gamma immunity and, consequently, recurrent, moderately severe infections with bacillus Calmette-Guérin (BCG) and other environmental mycobacteria (EM).


parents

Autosomal dominant mendelian susceptibility to mycobacterial diseases due to a partial deficiency


synonyms

Autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial interferon gamma receptor 1 deficiency

Autosomal dominant MSMD due to partial IFNgammaR1 deficiency

Autosomal dominant MSMD due to partial interferon gamma receptor 1 deficiency

Autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR2 deficiency

http://www.orpha.net/ORDO/Orphanet_319589

Autosomal dominant (AD) mendelian susceptibility to mycobacterial diseases (MSMD) due to partial interferon gamma receptor 2 (IFN-gammaR2) deficiency is a genetic variant of MSMD (see this term) characterized by a partial deficiency in IFN-gammaR2, leading to impaired response to IFN-gamma and, consequently, to recurrent, moderately severe infections with bacillus Calmette-Guérin (BCG) and other environmental mycobacteria (EM).


parents

Autosomal dominant mendelian susceptibility to mycobacterial diseases due to a partial deficiency


synonyms

Autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial interferon gamma receptor 2 deficiency

Autosomal dominant MSMD due to partial IFNgammaR2 deficiency

Autosomal dominant MSMD due to partial interferon gamma receptor 2 deficiency

Autosomal dominant methemoglobinemia

http://www.orpha.net/ORDO/Orphanet_330041


parents

Hereditary methemoglobinemia


synonyms

Hemoglobin M disease

Hereditary methemoglobinemia due to hemoglobin mutation

M hemoglobinopathy

Autosomal dominant microcephaly

http://www.orpha.net/ORDO/Orphanet_2514


parents

Isolated congenital microcephaly

Genetic multiple congenital anomalies/dysmorphic syndrome - variable intellectual disability

Autosomal dominant multiple pterygium syndrome

http://www.orpha.net/ORDO/Orphanet_65743


parents

Genetic dermis disorder

Multiple pterygium syndrome


synonyms

Distal arthrogryposis type 8

Autosomal dominant myoglobinuria

http://www.orpha.net/ORDO/Orphanet_99846


parents

Muscular lipidosis

Other metabolic disease

Autosomal dominant nail dysplasia

http://www.orpha.net/ORDO/Orphanet_79153


parents

Isolated nail anomaly


synonyms

Onychodystrophy totalis

Twenty-nail dystrophy

Autosomal dominant neovascular inflammatory vitreoretinopathy

http://www.orpha.net/ORDO/Orphanet_329211


parents

Vitreoretinal degeneration


synonyms

ADNIV

Autosomal dominant nocturnal frontal lobe epilepsy

http://www.orpha.net/ORDO/Orphanet_98784

Autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE) is a seizure disorder characterized by intermittent dystonia and/or choreoathetoid movements that begin during sleep. The clusters of nocturnal motor seizures are often stereotyped and brief.


parents

Familial partial epilepsy


synonyms

ADNFLE

Autosomal dominant non-syndromic intellectual disability

http://www.orpha.net/ORDO/Orphanet_178469


parents

Rare intellectual disability without developmental anomaly

Autosomal dominant non-syndromic sensorineural deafness type DFNA

http://www.orpha.net/ORDO/Orphanet_90635


parents

Prelingual non-syndromic genetic deafness

Postlingual non-syndromic genetic deafness


synonyms

Autosomal dominant isolated neurosensory deafness type DFNA

Autosomal dominant isolated neurosensory hearing loss type DFNA

Autosomal dominant isolated sensorineural deafness type DFNA

Autosomal dominant isolated sensorineural hearing loss type DFNA

Autosomal dominant non-syndromic neurosensory deafness type DFNA

Autosomal dominant non-syndromic neurosensory hearing loss type DFNA

Autosomal dominant non-syndromic sensorineural hearing loss type DFNA

Autosomal dominant omodysplasia

http://www.orpha.net/ORDO/Orphanet_93328


parents

Omodysplasia

Autosomal dominant Opitz G/BBB syndrome

http://www.orpha.net/ORDO/Orphanet_306588


parents

Opitz G/BBB syndrome


synonyms

ADOS

Autosomal dominant Opitz BBB/G syndrome

Autosomal dominant Opitz syndrome

Autosomal dominant optic atrophy

http://www.orpha.net/ORDO/Orphanet_98672


parents

Genetic optic atrophy


children

Autosomal dominant optic atrophy, classic type

Autosomal dominant optic atrophy and cataract

Autosomal dominant optic atrophy and peripheral neuropathy

Autosomal dominant optic atrophy plus syndrome

Cerebellar ataxia - areflexia - pes cavus - optic atrophy - sensorineural hearing loss


synonyms

DOA

Autosomal dominant optic atrophy, classic type

http://www.orpha.net/ORDO/Orphanet_98673

Autosomal dominant optic atrophy, classic type (ADOA) is a form of genetic optic atrophy (GOA; see this term), presenting as a symmetric and bilateral decrease in visual acuity, visual field and color vision defects


parents

Mitochondrial oxidative phosphorylation disorder with no known mechanism

Autosomal dominant optic atrophy


synonyms

Autosomal dominant optic atrophy, Kjer type

Kjer disease

Autosomal dominant optic atrophy and cataract

http://www.orpha.net/ORDO/Orphanet_67036


parents

Mitochondrial oxidative phosphorylation disorder with no known mechanism

Autosomal dominant optic atrophy


synonyms

Autosomal dominant optic atrophy type 3

OPA3, autosomal dominant

Autosomal dominant optic atrophy and late-onset deafness

http://www.orpha.net/ORDO/Orphanet_255117


parents

Mitochondrial oxidative phosphorylation disorder with no known mechanism

Autosomal dominant optic atrophy and peripheral neuropathy

http://www.orpha.net/ORDO/Orphanet_250932

Autosomal dominant optic atrophy and peripheral neuropathy (ADOAPN) is a form of autosomal dominant optic atrophy (ADOA, see this term), characterized by progressive and isolated visual loss in the first decade of life, decreased reflexes in the lower limbs and a mild cerebellar stance.


parents

Mitochondrial oxidative phosphorylation disorder with no known mechanism

Autosomal dominant optic atrophy

Autosomal dominant optic atrophy plus syndrome

http://www.orpha.net/ORDO/Orphanet_1215

Autosomal dominant optic atrophy plus syndrome (DOAplus) is a form of autosomal dominant optic atrophy (ADOA; see this term) associating optic atrophy with other clinical manifestations such as sensorineural deafness, myopathy, progressive external ophthalmoplegia, ataxia, peripheral neuropathy, stroke or spastic paraplegia.


parents

Autosomal dominant hereditary axonal motor and sensory neuropathy

Multiple mitochondrial DNA deletion syndrome

Autosomal dominant optic atrophy


synonyms

DOA+

Optic atrophy - deafness- polyneuropathy - myopathy

Autosomal dominant osteopetrosis type 1

http://www.orpha.net/ORDO/Orphanet_2783

Autosomal dominant osteopetrosis type I (ADO I) is a sclerosing bone disorder characterized by skeletal densification that predominantly involves the cranial vault.


parents

Osteopetrosis

Autosomal dominant osteosclerosis, Worth type

http://www.orpha.net/ORDO/Orphanet_2790


parents

Primary bone dysplasia with increased bone density


synonyms

Endosteal hyperostosis, Worth type

Worth syndrome

Autosomal dominant palmoplantar keratoderma and congenital alopecia

http://www.orpha.net/ORDO/Orphanet_1010

Autosomal dominant palmoplantar keratoderma with congenital alopecia (PPK-CA) is a rare genetic skin disorder characterized by absence of scalp and body hair and palmoplantar keratoderma, without other hand complications.


parents

Ectodermal dysplasia syndrome

Autosomal dominant disease with diffuse palmoplantar keratoderma as a major feature


synonyms

Autosomal dominant palmoplantar hyperkeratosis and congenital alopecia

Palmoplantar keratoderma and congenital alopecia, Stevanovic type

PPK-CA, Stevanovic type

Autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis

http://www.orpha.net/ORDO/Orphanet_88924


parents

Partial deletion of the short arm of chromosome 16

Familial cystic renal disease


synonyms

Tuberous sclerosis/polycystic kidney disease contiguous gene syndrome

Autosomal dominant popliteal pterygium syndrome

http://www.orpha.net/ORDO/Orphanet_1300

Autosomal dominant popliteal pterygium syndrome (AD-PPS) is a rare genetic malformative disorder characterized by cleft lip, with or without cleft palate, contractures of the lower extremities, abnormal external genitalia, syndactyly of fingers and/or toes, and a pyramidal skin fold over the hallux nail.


parents

Syndromic developmental defect of the eye

Popliteal pterygium syndrome

Genetic multiple congenital anomalies/dysmorphic syndrome - variable intellectual disability

Syndromic ankyloblepharon


synonyms

Facio-genito-popliteal syndrome

Popliteal web syndrome

Autosomal dominant primary hypomagnesemia with hypocalciuria

http://www.orpha.net/ORDO/Orphanet_34528

Autosomal dominant primary hypomagnesemia with hypocalciuria (ADPHH) is a mild form of familial primary hypomagnesemia (FPH, see this term), characterized by extreme weakness, tetany and convulsions. Secondary disturbances in calcium excretion are observed.


parents

Familial primary hypomagnesemia with hypocalcuria


synonyms

HOMG2

Isolated autosomal dominant hypomagnesemia

Isolated renal magnesium wasting

Renal hypomagnesemia type 2

Autosomal dominant prognathism

http://www.orpha.net/ORDO/Orphanet_2964


parents

Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability

Autosomal dominant progressive external ophthalmoplegia

http://www.orpha.net/ORDO/Orphanet_254892


parents

Multiple mitochondrial DNA deletion syndrome


synonyms

adPEO

Autosomal dominant progressive nephropathy with hypertension

http://www.orpha.net/ORDO/Orphanet_88659


parents

Genetic hypertension

Autosomal dominant proximal renal tubular acidosis

http://www.orpha.net/ORDO/Orphanet_314889

Autosomal dominant proximal renal tubular acidosis (AD pRTA) is a form of proximal renal tubular acidosis (pRTA; see this term) characterized by an isolated defect in the proximal tubule leading to the decreased reabsorption of bicarbonate and consequently causing urinary bicarbonate wastage. Mild growth retardation and reduced bone density are extra-renal complications.


parents

Proximal renal tubular acidosis


synonyms

AD pRTA

Autosomal dominant proximal spinal muscular atrophy

http://www.orpha.net/ORDO/Orphanet_211037


parents

Genetic motor neuron disease


children

Adult-onset proximal spinal muscular atrophy, autosomal dominant

Autosomal dominant childhood-onset proximal spinal muscular atrophy

Lower motor neuron syndrome with late-adult onset

Autosomal dominant pure spastic paraplegia

http://www.orpha.net/ORDO/Orphanet_100980


parents

Pure hereditary spastic paraplegia


children

Autosomal dominant spastic paraplegia type 12

Autosomal dominant spastic paraplegia type 19

Autosomal dominant spastic paraplegia type 37

Autosomal dominant spastic paraplegia type 41

Autosomal dominant spastic paraplegia type 42

Autosomal dominant spastic paraplegia type 8

Autosomal recessive spastic paraplegia type 72


synonyms

Autosomal dominant pure HSP

Autosomal dominant pure SPG

Autosomal dominant uncomplicated HSP

Autosomal dominant uncomplicated spastic paraplegia

Autosomal dominant uncomplicated SPG

Autosomal dominant rhegmatogenous retinal detachment

http://www.orpha.net/ORDO/Orphanet_209867


parents

retinopathy

Vitreoretinal degeneration

Autosomal dominant Robinow syndrome

http://www.orpha.net/ORDO/Orphanet_3107

Autosomal dominant Robinow syndrome (DRS) is the more common type of Robinow syndrome (RS, see this term) characterized by mild to moderate limb shortening and abnormalities of the head, face and external genitalia.


parents

Robinow syndrome

Autosomal dominant secondary polycythemia

http://www.orpha.net/ORDO/Orphanet_247511


parents

Congenital secondary polycythemia


synonyms

Autosomal dominant secondary erythrocytosis

Autosomal dominant severe congenital neutropenia

http://www.orpha.net/ORDO/Orphanet_486


parents

Severe congenital neutropenia

Autosomal dominant slowed nerve conduction velocity

http://www.orpha.net/ORDO/Orphanet_140481


parents

Autosomal dominant hereditary demyelinating motor and sensory neuropathy

Autosomal dominant spastic ataxia

http://www.orpha.net/ORDO/Orphanet_316235


parents

Sp