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Online Mendelian Inheritance in Man
Last uploaded:
March 22, 2026
| Id | http://purl.bioontology.org/ontology/OMIM/301056
http://purl.bioontology.org/ontology/OMIM/301056
|
|---|---|
| Preferred Name | MULTIPLE CONGENITAL ANOMALIES-NEURODEVELOPMENTAL SYNDROME, X-LINKED |
| Synonyms |
MCAND
LINKED SYNDROME
|
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| altLabel |
MCAND
LINKED SYNDROME
|
|---|---|
| prefLabel | MULTIPLE CONGENITAL ANOMALIES-NEURODEVELOPMENTAL SYNDROME, X-LINKED
|
| Gene Symbol |
MCAND
OTUD5
DUBA
|
| Scope Statement | Death in childhood (in some patients) [MISCELLANEOUS]
Caused by mutation in the OTU domain-containing protein 5 gene (OTUD5, 300713.0001) [MOLECULAR BASIS]
Phenotypic variability [MISCELLANEOUS]
Onset at birth or early infancy [MISCELLANEOUS]
|
| type | |
| Has manifestation |
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|
| tui | T047
|
| Gene Locus | Xp11.23
|
| MIMTYPEMEANING | Phenotype description, molecular basis known.
|
| notation | 301056
|
| Semantic type UMLS property | |
| Has inheritance type | |
| cui | C5542341
|
| OMIM Entry Type | 3
|
| OMIM MimType Value | pound
|
| Delete | Subject | Author | Type | Created |
|---|---|---|---|---|
| No notes to display |