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Online Mendelian Inheritance in Man
Last uploaded:
March 22, 2026
| Id | http://purl.bioontology.org/ontology/OMIM/619522
http://purl.bioontology.org/ontology/OMIM/619522
|
|---|---|
| Preferred Name | NEURODEVELOPMENTAL-CRANIOFACIAL SYNDROME WITH VARIABLE RENAL AND CARDIAC ABNORMALITIES |
| Synonyms |
NECRC
|
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| altLabel | NECRC
|
|---|---|
| prefLabel | NEURODEVELOPMENTAL-CRANIOFACIAL SYNDROME WITH VARIABLE RENAL AND CARDIAC ABNORMALITIES
|
| Gene Symbol |
RAMP
FIM
ZMYM2
ZNF198
NECRC
|
| Scope Statement | Caused by mutation in the zinc finger, MTM-type 2 gene (ZMYM2, 602221.0001) [MOLECULAR BASIS]
De novo mutation (in some patients) [MISCELLANEOUS]
Onset in infancy [MISCELLANEOUS]
Highly variable phenotype [MISCELLANEOUS]
|
| type | |
| Has manifestation |
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|
| tui | T047
|
| Gene Locus | 13q12.11
|
| MIMTYPEMEANING | Phenotype description, molecular basis known.
|
| notation | 619522
|
| Semantic type UMLS property | |
| Has inheritance type | |
| cui | C5561984
|
| OMIM Entry Type | 3
|
| OMIM MimType Value | pound
|
| Delete | Subject | Author | Type | Created |
|---|---|---|---|---|
| No notes to display |