JSON

minimal pigment oculocutaneous albinism type 1

^ http://purl.obolibrary.org/obo/MONDO_0018136

Type 1 minimal pigment oculocutaneous albinism (OCA1-MP) is an extremely rare form of OCA1 with minimal pigment present, characterized by blond hair, variable iris transillumination, visual acuity ranging from 20/80-20/200 and white skin, with or without skin nevi. [ Orphanet:352734 ]

Term info

database cross reference
  • ICD9:270.2 (MONDO:relatedTo)
  • UMLS:CN204521 (MONDO:equivalentTo)
  • Orphanet:352734 (MONDO:equivalentTo)
  • SCTID:237919007 (MONDO:equivalentTo)
Subsets

ordo_clinical_subtype

definition

Type 1 minimal pigment oculocutaneous albinism (OCA1-MP) is an extremely rare form of OCA1 with minimal pigment present, characterized by blond hair, variable iris transillumination, visual acuity ranging from 20/80-20/200 and white skin, with or without skin nevi.

exactMatch

http://purl.obolibrary.org/obo/Orphanet_352734, http://linkedlifedata.com/resource/umls/id/CN204521, http://identifiers.org/snomedct/237919007

has exact synonym

MP OCA type 1, OCA1-MP

id

MONDO:0018136

Term relations