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Hermanski-Pudlak Syndrome

Go to external page http://purl.bioontology.org/ontology/MESH/D022861

Syndrome characterized by the triad of oculocutaneous albinism (ALBINISM, OCULOCUTANEOUS); PLATELET STORAGE POOL DEFICIENCY; and lysosomal accumulation of ceroid lipofuscin.

Instance info

Synonyms

Hermansky Pudlak Syndrome, Hermansky-Pudlak Syndrome, Hermansky-Pudlak-Syndrom (DE), Hermanski Pudlak Syndrome

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

20010101

HN

2001

MDA

20000622

MMR

20160701

MN

C16.320.850.080.100.400,C16.320.099.515,C17.800.621.440.102.100.400,C11.270.040.545.400,C15.378.100.685.400,C18.452.648.100.102.100.400,C16.320.290.040.100.400,C17.800.827.080.100.400,C15.378.140.735.400,C15.378.463.735.400,C15.378.100.100.515,C16.320.565.100.102.100.400

PM

2001

QB

http://purl.bioontology.org/ontology/MESH/Q000175,http://purl.bioontology.org/ontology/MESH/Q000097,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/Q000378,http://purl.bioontology.org/ontology/MESH/Q000532,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/Q000000981,http://purl.bioontology.org/ontology/MESH/Q000473,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/Q000145,http://purl.bioontology.org/ontology/MESH/Q000662,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

SIB

http://purl.bioontology.org/ontology/MESH/D014842,http://purl.bioontology.org/ontology/MESH/D005171,http://purl.bioontology.org/ontology/MESH/D007020,http://purl.bioontology.org/ontology/MESH/D005173,http://purl.bioontology.org/ontology/MESH/D005175,http://purl.bioontology.org/ontology/MESH/D005177,http://purl.bioontology.org/ontology/MESH/D005166,http://purl.bioontology.org/ontology/MESH/D013915,http://purl.bioontology.org/ontology/MESH/D014923,http://purl.bioontology.org/ontology/MESH/D020151,http://purl.bioontology.org/ontology/MESH/D020152,http://purl.bioontology.org/ontology/MESH/D055652,http://purl.bioontology.org/ontology/MESH/D001606,http://purl.bioontology.org/ontology/MESH/D020016,http://purl.bioontology.org/ontology/MESH/D005168,http://purl.bioontology.org/ontology/MESH/D006467,http://purl.bioontology.org/ontology/MESH/D002836,http://purl.bioontology.org/ontology/MESH/D000347

TERMUI

T459168,T047882

TH

NLM (1991),GHR (2014),ORD (2010),OMIM (2013),NLM (2003)

cui

C0079504

hasSTY

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

mapped from

http://purl.bioontology.org/ontology/MESH/C538539,http://purl.bioontology.org/ontology/MESH/C537025,http://purl.bioontology.org/ontology/MESH/C537709

tui

T047

Instance relations

Types