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Online Mendelian Inheritance in Man
Last uploaded:
March 22, 2026
| Id | http://purl.bioontology.org/ontology/OMIM/610829
http://purl.bioontology.org/ontology/OMIM/610829
|
|---|---|
| Preferred Name | HOLOPROSENCEPHALY 9 |
| Synonyms |
HPE9
HOLOPROSENCEPHALY WITH MICROPHTHALMIA AND FIRST BRANCHIAL ARCH ANOMALIES
PITUITARY ANOMALIES WITH HOLOPROSENCEPHALY-LIKE FEATURES
|
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| altLabel |
HPE9
HOLOPROSENCEPHALY WITH MICROPHTHALMIA AND FIRST BRANCHIAL ARCH ANOMALIES
PITUITARY ANOMALIES WITH HOLOPROSENCEPHALY-LIKE FEATURES
|
|---|---|
| prefLabel | HOLOPROSENCEPHALY 9
|
| Gene Symbol |
CJS
GLI2
HPE9
|
| Scope Statement | Caused by mutation in the GLI-kruppel family member 2 gene (GLI2, 165230.0001) [MOLECULAR BASIS]
Variable phenotype [MISCELLANEOUS]
Incomplete penetrance [MISCELLANEOUS]
Variable expressivity [MISCELLANEOUS]
|
| type | |
| Has manifestation |
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|
| tui | T047
|
| Gene Locus | 2q14
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| MIMTYPEMEANING | Phenotype description, molecular basis known.
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| notation | 610829
|
| Semantic type UMLS property | |
| Has inheritance type | |
| cui | C1835819
|
| OMIM Entry Type | 3
|
| OMIM MimType Value | pound
|
| Delete | Subject | Author | Type | Created |
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| No notes to display |