Ectodermal Dysplasia 1, Anhidrotic
Go to external page http://purl.bioontology.org/ontology/MESH/D053358An X-linked form of ectodermal dysplasia which results from mutations of the gene encoding ECTODYSPLASIN.
Instance info
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
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
1
20070101
D053331
2007(1993)
20060705
20150618
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
2007; see ECTODERMAL DYSPLASIA 1993-2006
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
http://purl.bioontology.org/ontology/MESH/D053331
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
T841718,T812040,T812038,T661881,T013667,T665191,T843525,T665192,T661879,T812041,T661878,T732665
NLM (2007),GHR (2014),NLM (1993),ORD (2010),OMIM (2013),NLM (2010)
C0162359
http://purl.bioontology.org/ontology/STY/T047
http://purl.bioontology.org/ontology/MESH/C537148
T047