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Online Mendelian Inheritance in Man
Last uploaded:
March 22, 2026
| Id | http://purl.bioontology.org/ontology/OMIM/621143
http://purl.bioontology.org/ontology/OMIM/621143
|
|---|---|
| Preferred Name | HOLOPROSENCEPHALY 10 |
| Synonyms |
HPE10
|
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| altLabel | HPE10
|
|---|---|
| prefLabel | HOLOPROSENCEPHALY 10
|
| Gene Symbol |
DISP1
DISPA
HPE10
|
| Scope Statement | Incomplete penetrance in those with heterozygous variants [MISCELLANEOUS]
Caused by mutation in the dispatched RND transporter family, member 1 gene (DISP1, 607502.0001) [MOLECULAR BASIS]
Onset in utero or at birth [MISCELLANEOUS]
Variable severity [MISCELLANEOUS]
Prenatal ultrasound may detect severely affected fetuses in utero [MISCELLANEOUS]
|
| type | |
| Has manifestation |
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|
| tui | T019
|
| Gene Locus | 1q42
|
| MIMTYPEMEANING | Phenotype description, molecular basis known.
|
| notation | 621143
|
| Semantic type UMLS property | |
| Has inheritance type | |
| cui | C2675857
|
| OMIM Entry Type | 3
|
| OMIM MimType Value | pound
|
| Delete | Subject | Author | Type | Created |
|---|---|---|---|---|
| No notes to display |