Jump to:
loading...| Preferred Name |
hemochromatosis type 2A |
| Synonyms |
HFE2A |
| Definitions |
A hemochromatosis type 2 that has_material_basis_in homozygous or compound heterozygous mutation in the HJV gene on chromosome 1q21. |
| ID |
http://purl.obolibrary.org/obo/DOID_0111027 |
| database_cross_reference |
OMIM:602390 |
| definition |
A hemochromatosis type 2 that has_material_basis_in homozygous or compound heterozygous mutation in the HJV gene on chromosome 1q21. |
| disease has basis in | |
| has exact synonym |
HFE2A |
| has_obo_namespace |
disease_ontology |
| id |
DOID:0111027 |
| label |
hemochromatosis type 2A |
| notation |
DOID:0111027 |
| prefLabel |
hemochromatosis type 2A |
| subClassOf |
Create New Mapping