Mucolipidosis II (MLII) is a slowly progressive lysosomal disorder characterized by growth retardation, skeletal abnormalities, facial dysmorphism, stiff skin, developmental delay and cardiomegaly. [ Orphanet:576 ]

This is just here as a test because I lose it

Term information

database cross reference
  • GARD:0006749 (Orphanet-shared)
  • OMIM:252500 (Orphanet:576)
  • DOID:0080070 (MONDO:equivalentTo)
  • UMLS:C2673377 (OMIM:252500)
  • SCTID:70199000 (MONDO:equivalentTo)
  • UMLS:C0020725 (Orphanet:576)
  • Orphanet:576 (OMIM:252500)
  • MESH:C538602 (Orphanet:576)
  • NCIT:C61270 (MONDO:equivalentTo)
  • ICD10:E77.0 (Orphanet:576)
Subsets

ordo_disease

abbreviation
GNPTA [ GARD:0006749 ]

definition

Mucolipidosis II (MLII) is a slowly progressive lysosomal disorder characterized by growth retardation, skeletal abnormalities, facial dysmorphism, stiff skin, developmental delay and cardiomegaly.

exactMatch

http://purl.obolibrary.org/obo/NCIT_C61270

http://www.orpha.net/ORDO/Orphanet_576

http://identifiers.org/mesh/C538602

http://linkedlifedata.com/resource/umls/id/C0020725

http://purl.obolibrary.org/obo/DOID_0080070

http://identifiers.org/omim/252500

http://linkedlifedata.com/resource/umls/id/C2931894

http://linkedlifedata.com/resource/umls/id/C2673377

http://identifiers.org/snomedct/70199000

has exact synonym

mucolipidosis II

mucolipidosis type II

I-cell disease

N-acetylglucosamine 1-phosphotransferase deficiency

mucolipidosis type II alpha/beta

has related synonym

ML disorder type 2

ML 2

inclusion cell disease

N-acetylglucosamine 1phosphotransferase deficiency

Leroy disease

I cell disease

GNPTA

mucolipidosis 2

mucolipidosis 2 alpha/beta

ML 2 Alpha/Beta

mucolipidosis II alpha/beta

id

MONDO:0009650