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Biotinidase Deficiency

Go to external page http://purl.bioontology.org/ontology/MESH/D028921

The late onset form of MULTIPLE CARBOXYLASE DEFICIENCY (deficiency of the activities of biotin-dependent enzymes propionyl-CoA carboxylase, methylcrotonyl-CoA carboxylase, and PYRUVATE CARBOXYLASE) due to a defect or deficiency in biotinidase which is essential for recycling BIOTIN.

Instance info

Synonyms

Biotinidase Deficiencies, Carboxylasemangel, multipler, Spätform (DE), Carboxylase Deficiency, Multiple, Late-Onset, Late Onset Biotin Responsive Multiple Carboxylase Deficiency, BTD Deficiencies, Multiple Carboxylase Deficiency, Late Onset, Late-Onset Biotin-Responsive Multiple Carboxylase Deficiency, Deficiency, Multiple Carboxylase, Late-Onset, Biotinidase-Mangel (DE), Multiple Carboxylase Deficiency, Late-Onset, Late-Onset Multiple Carboxylase Deficiency, Late Onset Multiple Carboxylase Deficiency, Deficiency, Biotinidase, Deficiencies, BTD, BTD Deficiency, Multipler Carboxylasemangel, Spätform (DE), Deficiency, BTD, Deficiencies, Biotinidase

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

20020101

FX

D001710

HN

2002

MDA

20010803

MMR

20130708

MN

C16.320.565.202.720.100,C18.452.648.100.620.100,C18.452.648.202.720.100,C16.320.565.100.620.100

PM

2002

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/Q000134,http://purl.bioontology.org/ontology/MESH/Q000178,http://purl.bioontology.org/ontology/MESH/Q000276,http://purl.bioontology.org/ontology/MESH/Q000000981,http://purl.bioontology.org/ontology/MESH/Q000473,http://purl.bioontology.org/ontology/MESH/Q000451,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/Q000266,http://purl.bioontology.org/ontology/MESH/Q000145,http://purl.bioontology.org/ontology/MESH/Q000662,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/D043523,http://purl.bioontology.org/ontology/MESH/D001710

SIB

http://purl.bioontology.org/ontology/MESH/D028922

TERMUI

T843583,T839330,T839331,T443037,T446812,T443038,T440282,T442104

TH

GHR (2014),ORD (2010),OMIM (2013),NLM (2002)

cui

C0220754

hasSTY

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

mapped from

http://purl.bioontology.org/ontology/MESH/C531633

tui

T047

Instance relations

Types