Human Disease Ontology / 人类疾病本体

Last uploaded: September 7, 2023
Preferred Name

oculocutaneous albinism

Definitions

Xref MGI. OMIM mapping confirmed by DO. [SN]. A syndrome characterized by abnormal pigmentation of the skin, hair and eyes.

ID

http://purl.obolibrary.org/obo/DOID_0050632

comment

Xref MGI. OMIM mapping confirmed by DO. [SN].

database_cross_reference

ORDO:55

OMIM:PS203100

MESH:D016115

ICD10CM:E70.3

GARD:10958

definition

A syndrome characterized by abnormal pigmentation of the skin, hair and eyes.

has material basis in

http://purl.obolibrary.org/obo/GENO_0000148

has_obo_namespace

disease_ontology

id

DOID:0050632

in_subset

http://purl.obolibrary.org/obo/doid#DO_rare_slim

label

oculocutaneous albinism

notation

DOID:0050632

prefLabel

oculocutaneous albinism

subClassOf

http://purl.obolibrary.org/obo/DOID_225

http://purl.obolibrary.org/obo/DOID_0050737

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