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Online Mendelian Inheritance in Man
Last uploaded:
March 22, 2026
| Id | http://purl.bioontology.org/ontology/OMIM/618820
http://purl.bioontology.org/ontology/OMIM/618820
|
|---|---|
| Preferred Name | GENITOURINARY AND/OR BRAIN MALFORMATION SYNDROME |
| Synonyms |
GUBS
|
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| altLabel | GUBS
|
|---|---|
| prefLabel | GENITOURINARY AND/OR BRAIN MALFORMATION SYNDROME
|
| Gene Symbol |
GUBS
MYPT1
PPP1R12A
|
| Scope Statement | Caused by mutation in the protein phosphatase 1, regulatory subunit 12A gene (PPP1R12A, 602021.0001) [MOLECULAR BASIS]
46,XY phenotypic males may have uterus, Fallopian tubes, and/or ovaries present [MISCELLANEOUS]
46,XY phenotypic females may have normal-appearing or abnormal uterus, Fallopian tubes, and/or ovaries present [MISCELLANEOUS]
Disorders of sex differentiation observed, with 46,XY individuals who appeared to be phenotypic females [MISCELLANEOUS]
|
| type | |
| Has manifestation |
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|
| tui | T047
|
| Gene Locus | 12q15-q21.2
|
| MIMTYPEMEANING | Phenotype description, molecular basis known.
|
| notation | 618820
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| Semantic type UMLS property | |
| Has inheritance type | |
| cui | C5394158
|
| OMIM Entry Type | 3
|
| OMIM MimType Value | pound
|
| Delete | Subject | Author | Type | Created |
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| No notes to display |