holoprosencephaly 7
Information
- Disease name
- holoprosencephaly 7
- Disease ID
- DOID:0110876
- Description
- "A holoprosencephaly that has_material_basis_in heterozygous mutation in the PTCH1 gene on chromosome 9q22." [url:https\://www.ncbi.nlm.nih.gov/pubmed/11941477]
Disease area statistics
[No Data.]
Chromosome band
[No Data.]
Annotation
| Genes | Mutation | Description | Source | Links |
|---|
- Disase is a (Disease Ontology)
- DOID:4621
- Cross Reference ID (Disease Ontology)
- MESH:C563660
- Cross Reference ID (Disease Ontology)
- MIM:610828
- Exact Synonym (Disease Ontology)
- HPE7
- MedGen concept unique identifier (MedGen Concept name)
- C1835820
- MedGen unique identifier (MedGen Concept name)
- 372134