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Online Mendelian Inheritance in Man
Last uploaded:
March 22, 2026
| Id | http://purl.bioontology.org/ontology/OMIM/602875
http://purl.bioontology.org/ontology/OMIM/602875
|
|---|---|
| Preferred Name | ACROMESOMELIC DYSPLASIA 1 |
| Synonyms |
ACROMESOMELIC DYSPLASIA, MAROTEAUX TYPE
ST. HELENA DYSPLASIA
AMDM
AMD1
|
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| altLabel |
ACROMESOMELIC DYSPLASIA, MAROTEAUX TYPE
ST. HELENA DYSPLASIA
AMDM
AMD1
|
|---|---|
| prefLabel | ACROMESOMELIC DYSPLASIA 1
|
| Gene Symbol |
ANPRB
NPR2
ECDM
SNSK
AMD1
|
| Scope Statement | Short limbs become more apparent during childhood [MISCELLANEOUS]
Caused by mutation in the natriuretic peptide receptor B gene (NPR2, 108961.0001) [MOLECULAR BASIS]
Disproportionately short limbs often noted at birth [MISCELLANEOUS]
|
| type | |
| Has manifestation |
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|
| tui | T047
|
| Gene Locus | 9p21-p12
|
| MIMTYPEMEANING | Phenotype description, molecular basis known.
|
| notation | 602875
|
| Semantic type UMLS property | |
| Has inheritance type | |
| cui | C1864356
|
| OMIM Entry Type | 3
|
| OMIM MimType Value | pound
|
| Delete | Subject | Author | Type | Created |
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| No notes to display |