Oculocutaneous Albinism Type Ia
Disease ID: disease_node_19191
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| Dbxref | MIM:203100 |
|---|---|
| Subclassof | DOID_0050632 |
| Data Source | DOID |
| Synonyms | OCA1A, Oculocutaneous Albinism, Tyrosinase-Negative |
| Doid Label | oculocutaneous albinism type IA |
| Doid Description | An oculocutaneous albinism that has_material_basis_in an autosomal recessive null mutation of TYR on chromosome 11q14.3 with no residual protein activity. |
| Disease Node Id | disease_node_19191 |
| Doid Id | DOID_0070094 |
| Label | Oculocutaneous Albinism Type Ia |
- Outgoing r'ship
SUBCLASS_OFto/from Albinism, Oculocutaneous(ID:disease_node_8609) (Disease)