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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/617913
http://purl.bioontology.org/ontology/OMIM/617913
|
|---|---|
| Preferred Name | NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, CATARACTS, AND RENAL ABNORMALITIES |
| Synonyms |
NEDMCR
|
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| altLabel | NEDMCR
|
|---|---|
| prefLabel | NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, CATARACTS, AND RENAL ABNORMALITIES
|
| Gene Symbol |
NEDMCR
GEMIN4
|
| notation | 617913
|
| Scope Statement | Onset in infancy [MISCELLANEOUS]
Death in childhood may occur [MISCELLANEOUS]
Caused by mutation in the GEM-associated protein 4 gene (GEMIN4. 606969.0001) [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 | 17p13.3
|
| tui | T047
|
| cui | C4693567
|
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