OBO ID: DOID:0050632
Term Name: oculocutaneous albinism Search Ontology:
Synonyms:
Definition: An autosomal recessive disease characterized by abnormal pigmentation of the skin, hair and eyes. (2)
References:
Ontology: Human Disease   (DOID:0050632)
Relationships
is a type of:
has subtype:
OTHER oculocutaneous albinism PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
ABCC6 Arterial calcification, generalized, of infancy, 2 614473
MC1R {Albinism, oculocutaneous, type II, modifier of} 203200
OCA2 Albinism, oculocutaneous, type II 203200
Albinism, brown oculocutaneous 203200
SLC45A2 Albinism, oculocutaneous, type IV 606574
TYR Albinism, oculocutaneous, type IB 606952
Albinism, oculocutaneous, type IA 203100
TYRP1 Albinism, oculocutaneous, type III 203290
PHENOTYPE No data available

CITATIONS (3)