This is just here as a test because I lose it

Term information

database cross reference
  • Orphanet:93274 (OMIM:187601)
  • ICD9:742.59 (i2s)
  • GARD:0001402 (MONDO:equivalentTo)
  • OMIM:187601 (Orphanet:93274)
  • SCTID:389158007 (MONDO:equivalentTo)
  • UMLS:C1300257 (Orphanet:93274)
  • ICD10:Q77.1 (Orphanet:93274)
  • UMLS:CN206542 (MONDO:equivalentTo)
  • NCIT:C98584 (MONDO:equivalentTo)
  • MESH:C536508 (MONDO:equivalentTo)
Subsets

gard_rare, ordo_clinical_subtype

abbreviation
TD2 [ Orphanet:93274 MONDO:Lexical https://omim.org/entry/187601 ]

closeMatch

http://linkedlifedata.com/resource/umls/id/C1834928

definition

Thanatophoric dysplasia characterized by a cloverleaf-like skull and straight femurs.

exactMatch

http://linkedlifedata.com/resource/umls/id/CN206542

http://purl.obolibrary.org/obo/NCIT_C98584

http://identifiers.org/snomedct/389158007

http://identifiers.org/mesh/C536508

http://linkedlifedata.com/resource/umls/id/C1300257

http://www.orpha.net/ORDO/Orphanet_93274

http://identifiers.org/omim/187601

has exact synonym

type 2 thanatophoric dysplasia

TD2

thanatophoric dwarfism-cloverleaf skull syndrome

thanatophoric dwarfism type 2

thanatophoric dysplasia, type 2

cloverleaf skull-micromelic bone dysplasia syndrome

has related synonym

thanatophoric dysplasia type II

thanatophoric dysplasia, type II

thanatophoric dysplasia with straight femurs and cloverleaf skull

cloverleaf skull with thanatophoric dwarfism

thanatophoric dysplasia with Kleeblattschaedel

thanatophoric dwarfism - cloverleaf skull

id

MONDO:0008547

seeAlso

https://rarediseases.info.nih.gov/diseases/1402/thanatophoric-dysplasia-type-2