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
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)
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
1
19910101
91
19900212
20160701
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
91
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
http://purl.bioontology.org/ontology/MESH/D016116,http://purl.bioontology.org/ontology/MESH/D016117,http://purl.bioontology.org/ontology/MESH/D002609
T047878,T842177,T047879,T753629,T047881,T047880
NLM (1991),GHR (2014),ORD (2010),NLM (2010)
C0078923,C0078922,C0078921,C0078918
http://purl.bioontology.org/ontology/STY/T033,http://purl.bioontology.org/ontology/STY/T019
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
T019,T033