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Online Mendelian Inheritance in Man
Last uploaded:
March 22, 2026
| Id | http://purl.bioontology.org/ontology/OMIM/245600
http://purl.bioontology.org/ontology/OMIM/245600
|
|---|---|
| Preferred Name | MULTIPLE JOINT DISLOCATIONS, SHORT STATURE, AND CRANIOFACIAL DYSMORPHISM WITH OR WITHOUT CONGENITAL HEART DEFECTS |
| Synonyms |
LARSEN SYNDROME, AUTOSOMAL RECESSIVE, FORMERLY
JDSCD
|
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| altLabel |
LARSEN SYNDROME, AUTOSOMAL RECESSIVE, FORMERLY
JDSCD
|
|---|---|
| prefLabel | MULTIPLE JOINT DISLOCATIONS, SHORT STATURE, AND CRANIOFACIAL DYSMORPHISM WITH OR WITHOUT CONGENITAL HEART DEFECTS
|
| Gene Symbol |
GLCATI
B3GAT3
JDSCD
|
| Scope Statement | Caused by mutation in the beta-1,3-glucuronyltransferase 3 gene (B3GAT3, 606374.0001) [MOLECULAR BASIS]
|
| type | |
| Has manifestation |
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|
| tui | T047
|
| Gene Locus | 11q12-q13
|
| MIMTYPEMEANING | Phenotype description, molecular basis known.
|
| notation | 245600
|
| Semantic type UMLS property | |
| Has inheritance type | |
| cui | C3278404
|
| OMIM Entry Type | 3
|
| OMIM MimType Value | pound
|
| Delete | Subject | Author | Type | Created |
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| No notes to display |