JSON

albinism

^ http://purl.obolibrary.org/obo/MONDO_0043209


A congenital disorder characterized by partial or complete absence of melanin pigment in the eyes, hair, or skin. [ NCIT:C84543-modified ]

Term info

database cross reference
  • MESH:D000417 (MONDO:equivalentTo)
  • NCIT:C84543 (MONDO:equivalentTo)
  • ICD10CM:E70.3 (MONDO:equivalentTo)
  • GARD:0005768 (MONDO:equivalentTo)
  • SCTID:15890002 (MONDO:equivalentTo)
  • UMLS:C0001916 (NCIT:C84543)
Subsets

gard_rare

comment

This groups multiple types, including those restricted to the eyes, the skin or both

definition

A congenital disorder characterized by partial or complete absence of melanin pigment in the eyes, hair, or skin.

exactMatch

http://identifiers.org/snomedct/15890002, http://purl.obolibrary.org/obo/NCIT_C84543, http://identifiers.org/mesh/D000417, http://linkedlifedata.com/resource/umls/id/C0001916, http://purl.bioontology.org/ontology/ICD10CM/E70.3

excluded subClassOf

http://purl.obolibrary.org/obo/MONDO_0024255

id

MONDO:0043209

Term relations