Link to this page
Online Mendelian Inheritance in Man
Last uploaded:
March 22, 2026
| Id | http://purl.bioontology.org/ontology/OMIM/619603
http://purl.bioontology.org/ontology/OMIM/619603
|
|---|---|
| Preferred Name | GALLOWAY-MOWAT SYNDROME 9 |
| Synonyms |
GAMOS9
|
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| altLabel | GAMOS9
|
|---|---|
| prefLabel | GALLOWAY-MOWAT SYNDROME 9
|
| Gene Symbol |
GON7
C14orf142
|
| Scope Statement | Early death may occur [MISCELLANEOUS]
Caused by mutation in the GON7 subunit of KEOPS complex gene (GON7, 617436.0001) [MOLECULAR BASIS]
Slowly progressive renal disease [MISCELLANEOUS]
Variable severity [MISCELLANEOUS]
Onset in infancy or early childhood [MISCELLANEOUS]
|
| type | |
| Has manifestation |
See more
See less
|
| tui | T047
|
| Gene Locus | 14q32.12
|
| MIMTYPEMEANING | Phenotype description, molecular basis known.
|
| notation | 619603
|
| Semantic type UMLS property | |
| Has inheritance type | |
| cui | C5562016
|
| OMIM Entry Type | 3
|
| OMIM MimType Value | pound
|
| Delete | Subject | Author | Type | Created |
|---|---|---|---|---|
| No notes to display |