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loading...| Preferred Name |
holoprosencephaly 2 |
| Synonyms |
HPE2 |
| Definitions |
A holoprosencephaly that has_material_basis_in mutation in the homeobox-containing SIX3 gene on chromosome 2p21. |
| ID |
http://purl.obolibrary.org/obo/DOID_0110872 |
| database_cross_reference |
MESH:C563579 OMIM:157170 |
| definition |
A holoprosencephaly that has_material_basis_in mutation in the homeobox-containing SIX3 gene on chromosome 2p21. |
| has exact synonym |
HPE2 |
| has material basis in | |
| has_obo_namespace |
disease_ontology |
| id |
DOID:0110872 |
| label |
holoprosencephaly 2 |
| notation |
DOID:0110872 |
| prefLabel |
holoprosencephaly 2 |
| subClassOf |
Create New Mapping
| Delete | Mapping To | Ontology | Source |
|---|---|---|---|
| http://purl.bioontology.org/ontology/MESH/C563579 | Medical Subject Headings | LOOM | |
| http://purl.bioontology.org/ontology/OMIM/157170 | Online Mendelian Inheritance in Man | LOOM |