Albinism, Oculocutaneous

Go to external page http://purl.bioontology.org/ontology/MESH/D016115


Heterogeneous group of autosomal recessive disorders comprising at least four recognized types, all having in common varying degrees of hypopigmentation of the skin, hair, and eyes. The two most common are the tyrosinase-positive and tyrosinase-negative types.

Instance info

Synonyms

Albinismus, tyrosinase-positiver (DE), Oculocutaneous Albinism, Albinism, Tyrosinase-Negative, Tyrosinase-positiver Albinismus (DE), Albinismus, okulokutaner (DE), Tyrosinase-Positive Albinism, Tyrosinasenegativer Albinismus (DE), Tyrosinasepositiver Albinismus (DE), Albinism, Yellow Mutant, Albinismus, tyrosinasepositiver (DE), Albinismus, tyrosinase-negativer (DE), Albinism, Yellow-Mutant, Okulokutaner Albinismus (DE), Mutant Albinisms, Yellow, Tyrosinase-negativer Albinismus (DE), Mutant Albinism, Yellow, Albinismus, tyrosinasenegativer (DE), Albinismus, Gelbe Mutante (DE), Albinismus, Gelbmutante (DE), Albinism, Tyrosinase Negative, Yellow-Mutant Albinism, Albinismus, Yellow-Typ (DE), Tyrosinase-Negative Albinism, Yellow Mutant Albinism, Albinism, Tyrosinase Positive, Albinism, Tyrosinase-Positive, Albinismus, Gelbtyp (DE)

AQL

BL CF CI CL CO DG DH DI DT EC EH EM EN EP ET GE HI IM ME MI MO NU PA PC PP PS PX RH RT SU TH UR VE VI

DC

1

DX

19910101

HN

91

MDA

19900212

MMR

20160701

MN

C16.320.850.080.100,C16.320.290.040.100,C18.452.648.100.102.100,C17.800.827.080.100,C11.270.040.545,C17.800.621.440.102.100,C16.320.565.100.102.100

PM

91

QB

http://purl.bioontology.org/ontology/MESH/Q000097,http://purl.bioontology.org/ontology/MESH/Q000175,http://purl.bioontology.org/ontology/MESH/Q000196,http://purl.bioontology.org/ontology/MESH/Q000150,http://purl.bioontology.org/ontology/MESH/Q000191,http://purl.bioontology.org/ontology/MESH/Q000139,http://purl.bioontology.org/ontology/MESH/Q000534,http://purl.bioontology.org/ontology/MESH/Q000532,http://purl.bioontology.org/ontology/MESH/Q000378,http://purl.bioontology.org/ontology/MESH/Q000235,http://purl.bioontology.org/ontology/MESH/Q000652,http://purl.bioontology.org/ontology/MESH/Q000453,http://purl.bioontology.org/ontology/MESH/Q000178,http://purl.bioontology.org/ontology/MESH/Q000134,http://purl.bioontology.org/ontology/MESH/Q000276,http://purl.bioontology.org/ontology/MESH/Q000473,http://purl.bioontology.org/ontology/MESH/Q000451,http://purl.bioontology.org/ontology/MESH/Q000000981,http://purl.bioontology.org/ontology/MESH/Q000517,http://purl.bioontology.org/ontology/MESH/Q000382,http://purl.bioontology.org/ontology/MESH/Q000821,http://purl.bioontology.org/ontology/MESH/Q000469,http://purl.bioontology.org/ontology/MESH/Q000601,http://purl.bioontology.org/ontology/MESH/Q000523,http://purl.bioontology.org/ontology/MESH/Q000401,http://purl.bioontology.org/ontology/MESH/Q000201,http://purl.bioontology.org/ontology/MESH/Q000662,http://purl.bioontology.org/ontology/MESH/Q000266,http://purl.bioontology.org/ontology/MESH/Q000145,http://purl.bioontology.org/ontology/MESH/Q000188,http://purl.bioontology.org/ontology/MESH/Q000628,http://purl.bioontology.org/ontology/MESH/Q000209,http://purl.bioontology.org/ontology/MESH/Q000208,http://purl.bioontology.org/ontology/MESH/Q000503

SIB

http://purl.bioontology.org/ontology/MESH/D016116,http://purl.bioontology.org/ontology/MESH/D016117,http://purl.bioontology.org/ontology/MESH/D002609

TERMUI

T047878,T842177,T047879,T753629,T047881,T047880

TH

NLM (1991),GHR (2014),ORD (2010),NLM (2010)

cui

C0078923,C0078922,C0078921,C0078918

hasSTY

http://purl.bioontology.org/ontology/STY/T033,http://purl.bioontology.org/ontology/STY/T019

mapped from

http://purl.bioontology.org/ontology/MESH/C537729,http://purl.bioontology.org/ontology/MESH/C537728,http://purl.bioontology.org/ontology/MESH/C565646,http://purl.bioontology.org/ontology/MESH/C537730,http://purl.bioontology.org/ontology/MESH/C564645,http://purl.bioontology.org/ontology/MESH/C537731,http://purl.bioontology.org/ontology/MESH/C564696,http://purl.bioontology.org/ontology/MESH/C536919,http://purl.bioontology.org/ontology/MESH/C562662,http://purl.bioontology.org/ontology/MESH/C537189,http://purl.bioontology.org/ontology/MESH/C566872

tui

T019,T033

Instance relations

Types