A group of hereditary disorders involving tissues and structures derived from the embryonic ectoderm. They are characterized by the presence of abnormalities at birth and involvement of both the epidermis and skin appendages. They are generally nonprogressive and diffuse. Various forms exist, including anhidrotic and hidrotic dysplasias, FOCAL DERMAL HYPOPLASIA, and aplasia cutis congenita.
Instance info
Aplasia cutis congenita (DE), Ectodermal Defects, Congenital, Dysplasia, Ectodermal, Dysplasia Anhidrotic, Ectodermal, Defect, Congenital Ectodermal, Syndrome, Clouston, Hidrotic Ectodermal Dysplasias, Ectodermal Dysplasia, Hydrotic, Ectodermal Dysplasia, Anhidrotic, Anhidrotische ektodermale Dysplasie (DE), Dysplasia, Anhidrotic Ectodermal, Ectodermal Dysplasia, Hidrotic, Ektodermaldysplasie (DE), Ectodermal Dysplasia, Hidrotic, Autosomal Dominant, Dysplasias, Hidrotic Ectodermal, Aplasia Cutis Congenita, Hydrotic Ectodermal Dysplasias, Ektodermale Dysplasie (DE), Anhidrotic Ectodermal Dysplasia, Anhidrotic, Ectodermal Dysplasia, Anhidrotics, Ectodermal Dysplasia, Dysplasias, Anhydrotic Ectodermal, Ectodermal Dysplasias, Anhidrotic, Clouston Hidrotic Ectodermal Dysplasia, Clouston-Syndrom (DE), Hidrotisch-ektodermale Dysplasie (DE), Dysplasias, Hydrotic Ectodermal, Ectodermal Dysplasias, Anhydrotic, Cloustons Syndrome, Dysplasias, Anhidrotic Ectodermal, Dysplasia, Hydrotic Ectodermal, Hidrotic Ectodermal Dysplasia, Autosomal Dominant, Ectodermal Defect, Congenital, Hidrotic Ectodermal Dysplasia, Defects, Congenital Ectodermal, Dysplasia, Hidrotic Ectodermal, Syndrome, Clouston's, Anhidrotisch-ektodermale Dysplasie (DE), Anhydrotic Ectodermal Dysplasia, Dysplasia, Anhydrotic Ectodermal, Kongenitaler ektodermaler Defekt (DE), Ectodermal Dysplasia, Anhydrotic, Clouston's Syndrome (DE), Dysplasia Anhidrotics, Ectodermal, Hidrotische ektodermale Dysplasie (DE), Ectodermal Dysplasias, Anhidrotic Ectodermal Dysplasias, Hydrotic Ectodermal Dysplasia, Clouston's Hidrotic Ectodermal Dysplasia, Congenital Ectodermal Defects, Dysplasias, Ectodermal, Ectodermal Dysplasias, Hydrotic, Congenital Ectodermal Defect, Aplasia Cutis Congenita, Nonsyndromic, Anhydrotic Ectodermal Dysplasias, Autosomal Dominant Hidrotic Ectodermal Dysplasia, Clouston Syndrome, Clouston's Syndrome, Ectodermal Dysplasia Anhidrotic, Ectodermal Dysplasia 2, Hidrotic
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
19650101
1965
19990101
20150618
C17.800.804.350,C16.131.831.350,C16.131.077.350,C17.800.827.250,C16.320.850.250
1965; ECTODERMAL DEFECT, CONGENITAL was heading 1963-1986
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/Q000235,http://purl.bioontology.org/ontology/MESH/Q000532,http://purl.bioontology.org/ontology/MESH/Q000378,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/Q000451,http://purl.bioontology.org/ontology/MESH/Q000473,http://purl.bioontology.org/ontology/MESH/Q000000981,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
http://purl.bioontology.org/ontology/MESH/D000073839,http://purl.bioontology.org/ontology/MESH/D058502,http://purl.bioontology.org/ontology/MESH/D015211,http://purl.bioontology.org/ontology/MESH/D011218,http://purl.bioontology.org/ontology/MESH/D058747,http://purl.bioontology.org/ontology/MESH/D014849,http://purl.bioontology.org/ontology/MESH/D053529,http://purl.bioontology.org/ontology/MESH/D019339,http://purl.bioontology.org/ontology/MESH/D000072661,http://purl.bioontology.org/ontology/MESH/D011535,http://purl.bioontology.org/ontology/MESH/D016506,http://purl.bioontology.org/ontology/MESH/D055947,http://purl.bioontology.org/ontology/MESH/D004314,http://purl.bioontology.org/ontology/MESH/D054975,http://purl.bioontology.org/ontology/MESH/D009800,http://purl.bioontology.org/ontology/MESH/D056830,http://purl.bioontology.org/ontology/MESH/D053560,http://purl.bioontology.org/ontology/MESH/D016111,http://purl.bioontology.org/ontology/MESH/D057088,http://purl.bioontology.org/ontology/MESH/D007184,http://purl.bioontology.org/ontology/MESH/D016878,http://purl.bioontology.org/ontology/MESH/D017204,http://purl.bioontology.org/ontology/MESH/D016114,http://purl.bioontology.org/ontology/MESH/D012593,http://purl.bioontology.org/ontology/MESH/D059446,http://purl.bioontology.org/ontology/MESH/D016112,http://purl.bioontology.org/ontology/MESH/D016113,http://purl.bioontology.org/ontology/MESH/D000073842,http://purl.bioontology.org/ontology/MESH/D016715,http://purl.bioontology.org/ontology/MESH/D017092,http://purl.bioontology.org/ontology/MESH/D001478,http://purl.bioontology.org/ontology/MESH/D004820,http://purl.bioontology.org/ontology/MESH/D003410,http://purl.bioontology.org/ontology/MESH/D020331,http://purl.bioontology.org/ontology/MESH/D019871,http://purl.bioontology.org/ontology/MESH/D003057,http://purl.bioontology.org/ontology/MESH/D055653,http://purl.bioontology.org/ontology/MESH/D054000,http://purl.bioontology.org/ontology/MESH/D056266,http://purl.bioontology.org/ontology/MESH/D009958,http://purl.bioontology.org/ontology/MESH/D056660,http://purl.bioontology.org/ontology/MESH/D017094,http://purl.bioontology.org/ontology/MESH/D058165,http://purl.bioontology.org/ontology/MESH/D007690,http://purl.bioontology.org/ontology/MESH/D008382,http://purl.bioontology.org/ontology/MESH/D014983,http://purl.bioontology.org/ontology/MESH/D008065,http://purl.bioontology.org/ontology/MESH/D017499,http://purl.bioontology.org/ontology/MESH/D007057,http://purl.bioontology.org/ontology/MESH/D011038,http://purl.bioontology.org/ontology/MESH/D007849,http://purl.bioontology.org/ontology/MESH/D004535,http://purl.bioontology.org/ontology/MESH/D054877,http://purl.bioontology.org/ontology/MESH/D056734,http://purl.bioontology.org/ontology/MESH/D056733,http://purl.bioontology.org/ontology/MESH/D056732,http://purl.bioontology.org/ontology/MESH/D056731,http://purl.bioontology.org/ontology/MESH/D056730,http://purl.bioontology.org/ontology/MESH/D007645,http://purl.bioontology.org/ontology/MESH/D007644,http://purl.bioontology.org/ontology/MESH/D001506,http://purl.bioontology.org/ontology/MESH/D000417,http://purl.bioontology.org/ontology/MESH/D056770,http://purl.bioontology.org/ontology/MESH/D019082,http://purl.bioontology.org/ontology/MESH/D019280,http://purl.bioontology.org/ontology/MESH/D058495,http://purl.bioontology.org/ontology/MESH/D012410,http://purl.bioontology.org/ontology/MESH/D058496,http://purl.bioontology.org/ontology/MESH/D058497,http://purl.bioontology.org/ontology/MESH/D011561,http://purl.bioontology.org/ontology/MESH/D003483,http://purl.bioontology.org/ontology/MESH/D016738,http://purl.bioontology.org/ontology/MESH/D009261,http://purl.bioontology.org/ontology/MESH/D012779,http://purl.bioontology.org/ontology/MESH/D012415,http://purl.bioontology.org/ontology/MESH/D003876,http://purl.bioontology.org/ontology/MESH/D005736,http://purl.bioontology.org/ontology/MESH/D000169,http://purl.bioontology.org/ontology/MESH/D056846,http://purl.bioontology.org/ontology/MESH/D056889,http://purl.bioontology.org/ontology/MESH/D044542,http://purl.bioontology.org/ontology/MESH/D001816,http://purl.bioontology.org/ontology/MESH/D056685,http://purl.bioontology.org/ontology/MESH/D054463,http://purl.bioontology.org/ontology/MESH/D016142,http://purl.bioontology.org/ontology/MESH/D054062,http://purl.bioontology.org/ontology/MESH/D057770,http://purl.bioontology.org/ontology/MESH/D003635
T013668,T665190,T013669,T013666,T013664,T812045,T812046,T013665,T013662,T834231,T812047,T013663,T834233,T812294,T834232,T817112,T834234,T812044,T013670,T665189,T753607
GHR (2014),NLM (2007),NLM (1993),ORD (2010),OMIM (2013),NLM (2010),NLM (1965),UNK (19XX),NLM (2013),NLM (1996)
C0013575,C0282160,C0162361,C1706004
http://purl.bioontology.org/ontology/STY/T047,http://purl.bioontology.org/ontology/STY/T019
http://purl.bioontology.org/ontology/MESH/C535846,http://purl.bioontology.org/ontology/MESH/C535847,http://purl.bioontology.org/ontology/MESH/C535885,http://purl.bioontology.org/ontology/MESH/C537788,http://purl.bioontology.org/ontology/MESH/C537427,http://purl.bioontology.org/ontology/MESH/C563117,http://purl.bioontology.org/ontology/MESH/C564760,http://purl.bioontology.org/ontology/MESH/C536182,http://purl.bioontology.org/ontology/MESH/C565067,http://purl.bioontology.org/ontology/MESH/C536181,http://purl.bioontology.org/ontology/MESH/C536183,http://purl.bioontology.org/ontology/MESH/C565065,http://purl.bioontology.org/ontology/MESH/C566592,http://purl.bioontology.org/ontology/MESH/C565062,http://purl.bioontology.org/ontology/MESH/C536180,http://purl.bioontology.org/ontology/MESH/C536189,http://purl.bioontology.org/ontology/MESH/C535377,http://purl.bioontology.org/ontology/MESH/C535373,http://purl.bioontology.org/ontology/MESH/C536385,http://purl.bioontology.org/ontology/MESH/C536945,http://purl.bioontology.org/ontology/MESH/C564519,http://purl.bioontology.org/ontology/MESH/C537838,http://purl.bioontology.org/ontology/MESH/C565606,http://purl.bioontology.org/ontology/MESH/C565604,http://purl.bioontology.org/ontology/MESH/C535579,http://purl.bioontology.org/ontology/MESH/C565605,http://purl.bioontology.org/ontology/MESH/C563347,http://purl.bioontology.org/ontology/MESH/C563464,http://purl.bioontology.org/ontology/MESH/C538052,http://purl.bioontology.org/ontology/MESH/C563394,http://purl.bioontology.org/ontology/MESH/C536190,http://purl.bioontology.org/ontology/MESH/C538016,http://purl.bioontology.org/ontology/MESH/C538015,http://purl.bioontology.org/ontology/MESH/C538018,http://purl.bioontology.org/ontology/MESH/C535465,http://purl.bioontology.org/ontology/MESH/C537402,http://purl.bioontology.org/ontology/MESH/C536593,http://purl.bioontology.org/ontology/MESH/C538331,http://purl.bioontology.org/ontology/MESH/C538254,http://purl.bioontology.org/ontology/MESH/C538135,http://purl.bioontology.org/ontology/MESH/C536551,http://purl.bioontology.org/ontology/MESH/C537441,http://purl.bioontology.org/ontology/MESH/C537408,http://purl.bioontology.org/ontology/MESH/C536557,http://purl.bioontology.org/ontology/MESH/C535621,http://purl.bioontology.org/ontology/MESH/C535864,http://purl.bioontology.org/ontology/MESH/C562966,http://purl.bioontology.org/ontology/MESH/C565119,http://purl.bioontology.org/ontology/MESH/C565799,http://purl.bioontology.org/ontology/MESH/C536719,http://purl.bioontology.org/ontology/MESH/C564542,http://purl.bioontology.org/ontology/MESH/C567411,http://purl.bioontology.org/ontology/MESH/C538225,http://purl.bioontology.org/ontology/MESH/C536840,http://purl.bioontology.org/ontology/MESH/C536565,http://purl.bioontology.org/ontology/MESH/C535350,http://purl.bioontology.org/ontology/MESH/C535757,http://purl.bioontology.org/ontology/MESH/C536726,http://purl.bioontology.org/ontology/MESH/C535637,http://purl.bioontology.org/ontology/MESH/C563969,http://purl.bioontology.org/ontology/MESH/C537579,http://purl.bioontology.org/ontology/MESH/C537659,http://purl.bioontology.org/ontology/MESH/C564538,http://purl.bioontology.org/ontology/MESH/C566997,http://purl.bioontology.org/ontology/MESH/C565068,http://purl.bioontology.org/ontology/MESH/C566598,http://purl.bioontology.org/ontology/MESH/C566553,http://purl.bioontology.org/ontology/MESH/C564261,http://purl.bioontology.org/ontology/MESH/C537741,http://purl.bioontology.org/ontology/MESH/C565070,http://purl.bioontology.org/ontology/MESH/C535289,http://purl.bioontology.org/ontology/MESH/C535763,http://purl.bioontology.org/ontology/MESH/C537742,http://purl.bioontology.org/ontology/MESH/C538399,http://purl.bioontology.org/ontology/MESH/C537068,http://purl.bioontology.org/ontology/MESH/C537585,http://purl.bioontology.org/ontology/MESH/C536496,http://purl.bioontology.org/ontology/MESH/C535880
T019,T047