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Ectodermal Dysplasia, Hypohidrotic, Autosomal Recessive

Go to external page http://purl.bioontology.org/ontology/MESH/D053360

An autosomal recessive form of ectodermal dysplasia which is due to mutations in the gene for the EDAR RECEPTOR or EDAR-ASSOCIATED DEATH DOMAIN PROTEIN.

Instance info

Synonyms

Anhidrotic Ectodermal Dysplasia, Autosomal Recessive, Anhidridic Ectodermal Dysplasia, Autosomal Recessive, autosomal-rezessive hypohidrotische ektodermale Dysplasie (DE), Autosomal Recessive Anhidrotic Ectodermal Dysplasia, Autosomal Recessive Anhydrotic Ectodermal Dysplasia, Ektodermale Dysplasie, hypohidrotische, autosomal-rezessive (DE), Anhydridic Ectodermal Dysplasia, Autosomal Recessive, autosomal-rezessive anhidrotische ektodermale Dysplasie (DE), Ectodermal Dysplasia, Anhidrotic, Autosomal Recessive, Ectodermal Dysplasia, Hypohydrotic, Autosomal Recessive

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

20070101

FX

D053362,D053339

HN

2007

MDA

20060705

MMR

20150618

MN

C16.320.850.250.348,C17.800.804.350.348,C16.131.831.350.348,C16.131.077.350.348,C17.800.827.250.348

PM

2007

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/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/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/Q000000981,http://purl.bioontology.org/ontology/MESH/Q000451,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/Q000469,http://purl.bioontology.org/ontology/MESH/Q000821,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/D053339,http://purl.bioontology.org/ontology/MESH/D053362

SIB

http://purl.bioontology.org/ontology/MESH/D004613,http://purl.bioontology.org/ontology/MESH/D053359,http://purl.bioontology.org/ontology/MESH/D053549,http://purl.bioontology.org/ontology/MESH/D053358,http://purl.bioontology.org/ontology/MESH/D020752,http://purl.bioontology.org/ontology/MESH/D005489

TERMUI

T662045,T661890,T665193,T665194,T661889,T665195,T750799,T665196

TH

NLM (2007),ORD (2010),OMIM (2013),NLM (2010)

cui

C0406702

hasSTY

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

tui

T019

Instance relations

Types