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Online Mendelian Inheritance in Man
Last uploaded:
March 22, 2026
| Id | http://purl.bioontology.org/ontology/OMIM/251300
http://purl.bioontology.org/ontology/OMIM/251300
|
|---|---|
| Preferred Name | GALLOWAY-MOWAT SYNDROME 1 |
| Synonyms |
SCAR5, FORMERLY
GALLOWAY SYNDROME
NEPHROSIS-NEURONAL DYSMIGRATION SYNDROME
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 5, FORMERLY
CEREBELLAR ATAXIA WITH MENTAL RETARDATION, OPTIC ATROPHY, AND SKIN ABNORMALITIES
NEPHROSIS-MICROCEPHALY SYNDROME
GAMOS1
CAMOS
MICROCEPHALY, HIATAL HERNIA, AND NEPHROTIC SYNDROME
|
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| altLabel | SCAR5, FORMERLY
GALLOWAY SYNDROME
NEPHROSIS-NEURONAL DYSMIGRATION SYNDROME
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 5, FORMERLY
CEREBELLAR ATAXIA WITH MENTAL RETARDATION, OPTIC ATROPHY, AND SKIN ABNORMALITIES
NEPHROSIS-MICROCEPHALY SYNDROME
GAMOS1
CAMOS
MICROCEPHALY, HIATAL HERNIA, AND NEPHROTIC SYNDROME
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|---|---|
| prefLabel | GALLOWAY-MOWAT SYNDROME 1
|
| Gene Symbol |
WDR73
GAMOS1
HSPC264
|
| Scope Statement | Not all patients have renal involvement [MISCELLANEOUS]
Not all patients have dysmorphic facial features [MISCELLANEOUS]
Onset in infancy [MISCELLANEOUS]
Caused by mutation in the WD repeat-containing protein 73 gene (WDR73, 616144.0001) [MOLECULAR BASIS]
Variable features [MISCELLANEOUS]
Death in childhood may occur [MISCELLANEOUS]
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| type | |
| Has manifestation |
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|
| tui | T047
|
| Gene Locus | 15q25.2
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| MIMTYPEMEANING | Phenotype description, molecular basis known.
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| notation | 251300
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| Semantic type UMLS property | |
| Has inheritance type | |
| cui |
C4551772
C0795949
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| Moved from | 606937
|
| OMIM Entry Type | 3
|
| OMIM MimType Value | pound
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| Delete | Subject | Author | Type | Created |
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| No notes to display |