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Online Mendelian Inheritance in Man
Last uploaded:
March 22, 2026
| Id | http://purl.bioontology.org/ontology/OMIM/619488
http://purl.bioontology.org/ontology/OMIM/619488
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|---|---|
| Preferred Name | DEGCAGS SYNDROME |
| Synonyms |
DEGCAGS
DEVELOPMENTAL DELAY WITH GASTROINTESTINAL, CARDIOVASCULAR, GENITOURINARY, AND SKELETAL ABNORMALITIES
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| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| altLabel | DEGCAGS
DEVELOPMENTAL DELAY WITH GASTROINTESTINAL, CARDIOVASCULAR, GENITOURINARY, AND SKELETAL ABNORMALITIES
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|---|---|
| prefLabel | DEGCAGS SYNDROME
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| Gene Symbol |
FLJ38144
ZNF699
DEGCAGS
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| Scope Statement | Death in childhood (in some patients) [MISCELLANEOUS]
Onset at birth [MISCELLANEOUS]
Caused by mutation in the zinc finger protein 699 (ZNF699, 609571.0001) [MOLECULAR BASIS]
Highly variable phenotype [MISCELLANEOUS]
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| type | |
| Has manifestation |
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| tui | T047
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| Gene Locus | 19p13.2
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| MIMTYPEMEANING | Phenotype description, molecular basis known.
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| notation | 619488
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| Semantic type UMLS property | |
| Has inheritance type | |
| cui | C5561967
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| OMIM Entry Type | 3
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| OMIM MimType Value | pound
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| Delete | Subject | Author | Type | Created |
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