FB2025_05 , released December 11, 2025

CV Term Report

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General Information
Term	oculocutaneous albinism	ID (Ontology)	DOID:0050632 (Human Disease)
Definition	A syndrome characterized by abnormal pigmentation of the skin, hair and eyes.
Comment
Links to External Ontologies
	DO.org
Annotations
Records annotated with this term OR any of its CHILD TERMS
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Spanning Tree (Parents/Children)

autosomal genetic disease
 |__autosomal recessive disease__
disease                          |
 |__syndrome_____________________|
                                 oculocutaneous albinism  10 rec.
                                  |__oculocutaneous albinism type IA
                                  |__oculocutaneous albinism type IB
                                  |__oculocutaneous albinism type II 5 rec.
                                  |__oculocutaneous albinism type III
                                  |__oculocutaneous albinism type IV 2 rec.
                                  |__oculocutaneous albinism type V
                                  |__oculocutaneous albinism type VI 2 rec.
                                  |__oculocutaneous albinism type VII 1 rec.

Spanning Tree View Settings
Parents/Children View Depth	Show hierarchy levels: for parents, for children
Relationships
Is a	autosomal recessive disease syndrome
Part of
Synonyms & Secondary IDs
Synonyms

Secondary IDs

External Crossreferences & Linkouts
	GARD:10958 ICD10CM:E70.3 MESH:D016115 MIM:PS203100 ORDO:55