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oculocutaneous albinism

^ http://purl.obolibrary.org/obo/MONDO_0018910

Oculocutaneous albinism (OCA) describes a group of inherited disorders of melanin biosynthesis characterized by a generalized reduction in pigmentation of hair, skin and eyes and variable ocular findings including nystagmus, reduced visual acuity and photophobia. Variants include OCA1A (the most severe form), OCA1B, OCA1-minimal pigment (OCA1-MP), OCA1-temperature sensitive (OCA1-TS), OCA2, OCA3, OCA4, OCA5, OCA6 and OCA7. [ Orphanet:55 ]

Term info

database cross reference
  • Orphanet:55 (MONDO:equivalentTo)
  • OMIMPS:203100 (MONDO:equivalentTo)
  • NCIT:C84941 (MONDO:equivalentTo)
  • MESH:D016115 (Orphanet:55/e)
  • UMLS:C0078918 (Orphanet:55/e)
  • ICD9:270.2 (MONDO:relatedTo)
  • SCTID:63844009 (MONDO:equivalentTo)
  • DOID:0050632 (MONDO:equivalentTo)
  • GARD:0010958 (MONDO:equivalentTo)
Subsets

gard_rare, disease_grouping, ordo_group_of_disorders

abbreviation
OCA [ Orphanet:55 ]

definition

Oculocutaneous albinism (OCA) describes a group of inherited disorders of melanin biosynthesis characterized by a generalized reduction in pigmentation of hair, skin and eyes and variable ocular findings including nystagmus, reduced visual acuity and photophobia. Variants include OCA1A (the most severe form), OCA1B, OCA1-minimal pigment (OCA1-MP), OCA1-temperature sensitive (OCA1-TS), OCA2, OCA3, OCA4, OCA5, OCA6 and OCA7.

exactMatch

https://omim.org/phenotypicSeries/PS203100, http://purl.obolibrary.org/obo/DOID_0050632, http://identifiers.org/mesh/D016115, http://linkedlifedata.com/resource/umls/id/C0078918, http://purl.obolibrary.org/obo/NCIT_C84941, http://identifiers.org/snomedct/63844009, http://purl.obolibrary.org/obo/Orphanet_55

excluded subClassOf

http://purl.obolibrary.org/obo/MONDO_0006025

has exact synonym

non-syndromic oculocutaneous albinism, OCA, nonsyndromic oculocutaneous albinism

has related synonym

albinism, oculocutaneous

id

MONDO:0018910

seeAlso

https://rarediseases.info.nih.gov/diseases/10958/oculocutaneous-albinism