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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/619184
http://purl.bioontology.org/ontology/OMIM/619184
|
|---|---|
| Preferred Name | SHORT STATURE, FACIAL DYSMORPHISM, AND SKELETAL ANOMALIES WITH OR WITHOUT CARDIAC ANOMALIES 2 |
| Synonyms |
SSFSC2
|
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| altLabel | SSFSC2
|
|---|---|
| prefLabel | SHORT STATURE, FACIAL DYSMORPHISM, AND SKELETAL ANOMALIES WITH OR WITHOUT CARDIAC ANOMALIES 2
|
| Gene Symbol |
SSFSC2
SCUBE3
|
| notation | 619184
|
| Scope Statement | Caused by mutation in the signal peptide-, CUB domain-, and EGF-like domains-containing protein-3 gene (SCUBE3, 614708.0001) [MOLECULAR BASIS]
|
| 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 | 6p21.3
|
| tui | T047
|
| cui | C5543057
|
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