Albinism

Go to external page http://purl.bioontology.org/ontology/MESH/D000417


General term for a number of inherited defects of amino acid metabolism in which there is a deficiency or absence of pigment in the eyes, skin, or hair.

Instance info

Synonyms

Albinismus (DE)

AN

hypopigmentation of skin, hair, eye; GEN or unspecified; prefer specifics; do not use /congen & do not coord with INFANT, NEWBORN, DISEASES

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

19660101

FX

D002609

MDA

19990101

MMR

20160701

MN

C16.320.850.080,C16.320.290.040,C16.320.565.100.102,C17.800.621.440.102,C17.800.827.080,C11.270.040,C18.452.648.100.102

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/Q000134,http://purl.bioontology.org/ontology/MESH/Q000178,http://purl.bioontology.org/ontology/MESH/Q000453,http://purl.bioontology.org/ontology/MESH/Q000276,http://purl.bioontology.org/ontology/MESH/Q000451,http://purl.bioontology.org/ontology/MESH/Q000473,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/Q000145,http://purl.bioontology.org/ontology/MESH/Q000266,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

RO

http://purl.bioontology.org/ontology/MESH/D002609,http://purl.bioontology.org/ontology/MESH/D014442

SIB

http://purl.bioontology.org/ontology/MESH/D057130,http://purl.bioontology.org/ontology/MESH/D058540,http://purl.bioontology.org/ontology/MESH/D053529,http://purl.bioontology.org/ontology/MESH/D015418,http://purl.bioontology.org/ontology/MESH/D016506,http://purl.bioontology.org/ontology/MESH/D000474,http://purl.bioontology.org/ontology/MESH/D003103,http://purl.bioontology.org/ontology/MESH/D000077765,http://purl.bioontology.org/ontology/MESH/D020167,http://purl.bioontology.org/ontology/MESH/D004476,http://purl.bioontology.org/ontology/MESH/D053560,http://purl.bioontology.org/ontology/MESH/D016111,http://purl.bioontology.org/ontology/MESH/D007184,http://purl.bioontology.org/ontology/MESH/D016114,http://purl.bioontology.org/ontology/MESH/D016112,http://purl.bioontology.org/ontology/MESH/D016113,http://purl.bioontology.org/ontology/MESH/D015783,http://purl.bioontology.org/ontology/MESH/D000071700,http://purl.bioontology.org/ontology/MESH/D017092,http://purl.bioontology.org/ontology/MESH/D049970,http://purl.bioontology.org/ontology/MESH/D004820,http://purl.bioontology.org/ontology/MESH/D019871,http://purl.bioontology.org/ontology/MESH/D020176,http://purl.bioontology.org/ontology/MESH/D055653,http://purl.bioontology.org/ontology/MESH/D020138,http://purl.bioontology.org/ontology/MESH/D015792,http://purl.bioontology.org/ontology/MESH/D012162,http://purl.bioontology.org/ontology/MESH/D056266,http://purl.bioontology.org/ontology/MESH/D056660,http://purl.bioontology.org/ontology/MESH/D017094,http://purl.bioontology.org/ontology/MESH/D015799,http://purl.bioontology.org/ontology/MESH/D014820,http://purl.bioontology.org/ontology/MESH/D010661,http://purl.bioontology.org/ontology/MESH/D014983,http://purl.bioontology.org/ontology/MESH/D008065,http://purl.bioontology.org/ontology/MESH/D017499,http://purl.bioontology.org/ontology/MESH/D015794,http://purl.bioontology.org/ontology/MESH/D011038,http://purl.bioontology.org/ontology/MESH/D004535,http://purl.bioontology.org/ontology/MESH/D057826,http://purl.bioontology.org/ontology/MESH/D056734,http://purl.bioontology.org/ontology/MESH/D056732,http://purl.bioontology.org/ontology/MESH/D007645,http://purl.bioontology.org/ontology/MESH/D007644,http://purl.bioontology.org/ontology/MESH/D056693,http://purl.bioontology.org/ontology/MESH/D056770,http://purl.bioontology.org/ontology/MESH/D058494,http://purl.bioontology.org/ontology/MESH/D009100,http://purl.bioontology.org/ontology/MESH/D012175,http://purl.bioontology.org/ontology/MESH/D008375,http://purl.bioontology.org/ontology/MESH/D012174,http://purl.bioontology.org/ontology/MESH/D011561,http://purl.bioontology.org/ontology/MESH/D003483,http://purl.bioontology.org/ontology/MESH/D004370,http://purl.bioontology.org/ontology/MESH/D056806,http://purl.bioontology.org/ontology/MESH/D003876,http://purl.bioontology.org/ontology/MESH/D056846,http://purl.bioontology.org/ontology/MESH/D054069,http://purl.bioontology.org/ontology/MESH/D054463,http://purl.bioontology.org/ontology/MESH/D020158,http://purl.bioontology.org/ontology/MESH/D057770,http://purl.bioontology.org/ontology/MESH/D003317

TERMUI

T001259

TH

NLM (1966)

cui

C0001916

hasSTY

http://purl.bioontology.org/ontology/STY/T047

mapped from

http://purl.bioontology.org/ontology/MESH/C537042,http://purl.bioontology.org/ontology/MESH/C538539,http://purl.bioontology.org/ontology/MESH/C537322,http://purl.bioontology.org/ontology/MESH/C565893

tui

T047

Instance relations

Types