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loading...| Preferred Name |
holoprosencephaly 7 |
| Synonyms |
HPE7 |
| Definitions |
A holoprosencephaly that has_material_basis_in heterozygous mutation in the PTCH1 gene on chromosome 9q22. |
| ID |
http://purl.obolibrary.org/obo/DOID_0110876 |
| database_cross_reference |
OMIM:610828 MESH:C563660 |
| definition |
A holoprosencephaly that has_material_basis_in heterozygous mutation in the PTCH1 gene on chromosome 9q22. |
| has exact synonym |
HPE7 |
| has material basis in | |
| has_obo_namespace |
disease_ontology |
| id |
DOID:0110876 |
| label |
holoprosencephaly 7 |
| notation |
DOID:0110876 |
| prefLabel |
holoprosencephaly 7 |
| subClassOf |
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| Delete | Mapping To | Ontology | Source |
|---|---|---|---|
| http://purl.bioontology.org/ontology/MESH/C563660 | Medical Subject Headings | LOOM | |
| http://purl.bioontology.org/ontology/OMIM/610828 | Online Mendelian Inheritance in Man | LOOM |