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Online Mendelian Inheritance in Man
Last uploaded:
January 16, 2025
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| Id | http://purl.bioontology.org/ontology/OMIM/117650
http://purl.bioontology.org/ontology/OMIM/117650
|
|---|---|
| Preferred Name | CEREBROCOSTOMANDIBULAR SYNDROME |
| Synonyms |
CCMS
RIB GAP DEFECTS WITH MICROGNATHIA
|
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| altLabel |
CCMS
RIB GAP DEFECTS WITH MICROGNATHIA
|
|---|---|
| prefLabel | CEREBROCOSTOMANDIBULAR SYNDROME
|
| Gene Symbol |
SNRPB
CCMS
|
| notation | 117650
|
| Scope Statement | Forty percent of patients die in the first year [MISCELLANEOUS]
Caused by mutation in the small nuclear ribonucleoprotein polypeptides B and B1 gene (SNRPB, 182282.0001) [MOLECULAR BASIS]
De novo mutation (in most patients) [MISCELLANEOUS]
|
| OMIM MimType Value | pound
|
| Has inheritance type | |
| Semantic type UMLS property | |
| OMIM Entry Type | 3
|
| type | |
| Has manifestation |
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|
| MIMTYPEMEANING | Phenotype description, molecular basis known.
|
| Gene Locus | 20p13
|
| tui | T047
|
| cui | C0265342
|
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