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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/618572
http://purl.bioontology.org/ontology/OMIM/618572
|
|---|---|
| Preferred Name | NEURODEVELOPMENTAL DISORDER WITH CEREBELLAR HYPOPLASIA AND SPASTICITY |
| Synonyms |
NEDCHS
|
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| altLabel | NEDCHS
|
|---|---|
| prefLabel | NEURODEVELOPMENTAL DISORDER WITH CEREBELLAR HYPOPLASIA AND SPASTICITY
|
| Gene Symbol |
INTS8
NEDCHS
INT8
|
| notation | 618572
|
| Scope Statement | Caused by mutation in the integrator complex subunit 8 gene (INTS8, 611351.0001) [MOLECULAR BASIS]
Three sibs have been reported (last curated September 2019) [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 | 8q22.1
|
| tui | T047
|
| cui | C5231415
|
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