Ectodermal Dysplasia 1, Anhidrotic

Go to external page http://purl.bioontology.org/ontology/MESH/D053358


An X-linked form of ectodermal dysplasia which results from mutations of the gene encoding ECTODYSPLASIN.

Instance info

Synonyms

Syndrome, CST, CST Syndromes, X-Linked Hypohydridic Ectodermal Dysplasia, Hypohidrotic Ectodermal Dysplasia, Anhidrotic Ectodermal Dysplasia, X-Linked, Ektodermaldysplasie, anhidrotische (DE), Ectodermal Dysplasia, Hypohydridic, X-Linked, Anhidrotic Ectodermal Dysplasia, X Linked, Anhidrotische Ektodermaldysplasie (DE), Ectodermal Dysplasia 1, CST Syndrome, Ectodermal Dysplasia, Hypohidrotic, X-Linked, Anhydrotic Ectodermal Dysplasia, X-Linked, Ectodermal Dysplasia 1, Anhydrotic, Anhydrotic Ectodermal Dysplasia, X Linked, X Linked Hypohydridic Ectodermal Dysplasia, Dysplasia 1, Ectodermal, Christ-Siemens-Touraine Syndrome, Christ-Siemens-Touraine-Syndrom (DE), Anhidrosis hypotrichotica (DE), Ectodermal Dysplasia, Anhidrotic, X-Linked, Christ Siemens Touraine Syndrome, Ectodermal Dysplasia 1s, Syndromes, CST

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

D053331

HN

2007(1993)

MDA

20060705

MMR

20150618

MN

C16.320.322.116,C16.131.077.350.198,C17.800.827.250.198,C16.320.850.250.198,C16.131.831.350.198,C17.800.804.350.198

PM

2007; see ECTODERMAL DYSPLASIA 1993-2006

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/Q000178,http://purl.bioontology.org/ontology/MESH/Q000453,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/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/Q000601,http://purl.bioontology.org/ontology/MESH/Q000821,http://purl.bioontology.org/ontology/MESH/Q000469,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/D053331

SIB

http://purl.bioontology.org/ontology/MESH/D058540,http://purl.bioontology.org/ontology/MESH/D015794,http://purl.bioontology.org/ontology/MESH/D014923,http://purl.bioontology.org/ontology/MESH/D013734,http://purl.bioontology.org/ontology/MESH/D004613,http://purl.bioontology.org/ontology/MESH/D000795,http://purl.bioontology.org/ontology/MESH/D020163,http://purl.bioontology.org/ontology/MESH/D053549,http://purl.bioontology.org/ontology/MESH/D053307,http://purl.bioontology.org/ontology/MESH/D056830,http://purl.bioontology.org/ontology/MESH/D009800,http://purl.bioontology.org/ontology/MESH/D006015,http://purl.bioontology.org/ontology/MESH/D020388,http://purl.bioontology.org/ontology/MESH/D002836,http://purl.bioontology.org/ontology/MESH/D005489,http://purl.bioontology.org/ontology/MESH/D020389,http://purl.bioontology.org/ontology/MESH/D053360,http://purl.bioontology.org/ontology/MESH/D016114,http://purl.bioontology.org/ontology/MESH/D038901,http://purl.bioontology.org/ontology/MESH/D020371,http://purl.bioontology.org/ontology/MESH/D053359,http://purl.bioontology.org/ontology/MESH/D056889,http://purl.bioontology.org/ontology/MESH/D019871,http://purl.bioontology.org/ontology/MESH/D055534,http://purl.bioontology.org/ontology/MESH/D053632,http://purl.bioontology.org/ontology/MESH/D052120,http://purl.bioontology.org/ontology/MESH/D057973,http://purl.bioontology.org/ontology/MESH/D006105,http://purl.bioontology.org/ontology/MESH/D020752

TERMUI

T841718,T812040,T812038,T661881,T013667,T665191,T843525,T665192,T661879,T812041,T661878,T732665

TH

NLM (2007),GHR (2014),NLM (1993),ORD (2010),OMIM (2013),NLM (2010)

cui

C0162359

hasSTY

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

mapped from

http://purl.bioontology.org/ontology/MESH/C537148

tui

T047

Instance relations

Types