Medical Subject Headings

Last uploaded: January 16, 2025

Id	http://purl.bioontology.org/ontology/MESH/D004476 http://purl.bioontology.org/ontology/MESH/D004476
Preferred Name	Ectodermal Dysplasia
Definitions	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.
Synonyms	Ectodermal Dysplasias, Anhydrotic Clouston Hidrotic Ectodermal Dysplasia Ectodermal Dysplasia, Anhidrotic Dysplasia, Anhydrotic Ectodermal Syndrome, Clouston's Hydrotic Ectodermal Dysplasia Dysplasia, Hidrotic Ectodermal Hidrotic Ectodermal Dysplasia, Autosomal Dominant Defects, Congenital Ectodermal Anhidrotics, Ectodermal Dysplasia Congenital Ectodermal Defects Dysplasia Anhidrotics, Ectodermal Anhydrotic Ectodermal Dysplasia Aplasia Cutis Congenita Dysplasias, Anhydrotic Ectodermal Defect, Congenital Ectodermal Anhidrotic Ectodermal Dysplasia Dysplasia Anhidrotic, Ectodermal Dysplasia, Ectodermal Clouston's Syndrome Ectodermal Dysplasias, Anhidrotic Clouston Syndrome Ectodermal Dysplasias, Hydrotic Ectodermal Dysplasia, Hidrotic Hidrotic Ectodermal Dysplasias Dysplasia, Hydrotic Ectodermal Clouston's Hidrotic Ectodermal Dysplasia Ectodermal Dysplasia, Hydrotic Ectodermal Dysplasia Anhidrotic Anhydrotic Ectodermal Dysplasias Ectodermal Defects, Congenital Dysplasia, Anhidrotic Ectodermal Ectodermal Dysplasia, Hidrotic, Autosomal Dominant Cloustons Syndrome Ectodermal Dysplasia 2, Hidrotic Syndrome, Clouston Ectodermal Dysplasia, Anhydrotic Hidrotic Ectodermal Dysplasia Hydrotic Ectodermal Dysplasias Dysplasias, Hydrotic Ectodermal Dysplasias, Ectodermal Ectodermal Defect, Congenital Dysplasias, Anhidrotic Ectodermal Autosomal Dominant Hidrotic Ectodermal Dysplasia Dysplasias, Hidrotic Ectodermal Congenital Ectodermal Defect Anhidrotic, Ectodermal Dysplasia Aplasia Cutis Congenita, Nonsyndromic Anhidrotic Ectodermal Dysplasias Ectodermal Dysplasias See more See less
Type	http://www.w3.org/2002/07/owl#Class

definition	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.
altLabel	Ectodermal Dysplasias, Anhydrotic Clouston Hidrotic Ectodermal Dysplasia Ectodermal Dysplasia, Anhidrotic Dysplasia, Anhydrotic Ectodermal Syndrome, Clouston's Hydrotic Ectodermal Dysplasia Dysplasia, Hidrotic Ectodermal Hidrotic Ectodermal Dysplasia, Autosomal Dominant Defects, Congenital Ectodermal Anhidrotics, Ectodermal Dysplasia Congenital Ectodermal Defects Dysplasia Anhidrotics, Ectodermal Anhydrotic Ectodermal Dysplasia Aplasia Cutis Congenita Dysplasias, Anhydrotic Ectodermal Defect, Congenital Ectodermal Anhidrotic Ectodermal Dysplasia Dysplasia Anhidrotic, Ectodermal Dysplasia, Ectodermal Clouston's Syndrome Ectodermal Dysplasias, Anhidrotic Clouston Syndrome Ectodermal Dysplasias, Hydrotic Ectodermal Dysplasia, Hidrotic Hidrotic Ectodermal Dysplasias Dysplasia, Hydrotic Ectodermal Clouston's Hidrotic Ectodermal Dysplasia Ectodermal Dysplasia, Hydrotic Ectodermal Dysplasia Anhidrotic Anhydrotic Ectodermal Dysplasias Ectodermal Defects, Congenital Dysplasia, Anhidrotic Ectodermal Ectodermal Dysplasia, Hidrotic, Autosomal Dominant Cloustons Syndrome Ectodermal Dysplasia 2, Hidrotic Syndrome, Clouston Ectodermal Dysplasia, Anhydrotic Hidrotic Ectodermal Dysplasia Hydrotic Ectodermal Dysplasias Dysplasias, Hydrotic Ectodermal Dysplasias, Ectodermal Ectodermal Defect, Congenital Dysplasias, Anhidrotic Ectodermal Autosomal Dominant Hidrotic Ectodermal Dysplasia Dysplasias, Hidrotic Ectodermal Congenital Ectodermal Defect Anhidrotic, Ectodermal Dysplasia Aplasia Cutis Congenita, Nonsyndromic Anhidrotic Ectodermal Dysplasias Ectodermal Dysplasias See more See less
prefLabel	Ectodermal Dysplasia
TH	NLM (1996) NLM (1965) OMIM (2013) NLM (1993) UNK (19XX) NLM (2013) NLM (2010) GHR (2014) NLM (2007) ORD (2010) See more See less
notation	D004476
DX	19650101
Machine permutation	1965; ECTODERMAL DEFECT, CONGENITAL was heading 1963-1986
MN	C16.320.850.250 C16.131.077.350 C16.131.831.350 C17.800.827.250 C17.800.804.350
MMR	20150618
Mapped from	http://purl.bioontology.org/ontology/MESH/C535350 http://purl.bioontology.org/ontology/MESH/C563117 http://purl.bioontology.org/ontology/MESH/C535579 http://purl.bioontology.org/ontology/MESH/C536593 http://purl.bioontology.org/ontology/MESH/C564261 http://purl.bioontology.org/ontology/MESH/C566598 http://purl.bioontology.org/ontology/MESH/C566592 http://purl.bioontology.org/ontology/MESH/C536496 http://purl.bioontology.org/ontology/MESH/C537838 http://purl.bioontology.org/ontology/MESH/C563394 http://purl.bioontology.org/ontology/MESH/C537579 http://purl.bioontology.org/ontology/MESH/C538331 http://purl.bioontology.org/ontology/MESH/C537741 http://purl.bioontology.org/ontology/MESH/C537742 http://purl.bioontology.org/ontology/MESH/C565605 http://purl.bioontology.org/ontology/MESH/C565604 http://purl.bioontology.org/ontology/MESH/C565606 http://purl.bioontology.org/ontology/MESH/C535377 http://purl.bioontology.org/ontology/MESH/C535373 http://purl.bioontology.org/ontology/MESH/C535763 http://purl.bioontology.org/ontology/MESH/C535880 http://purl.bioontology.org/ontology/MESH/C535885 http://purl.bioontology.org/ontology/MESH/C536726 http://purl.bioontology.org/ontology/MESH/C537427 http://purl.bioontology.org/ontology/MESH/C538254 http://purl.bioontology.org/ontology/MESH/C538225 http://purl.bioontology.org/ontology/MESH/C535864 http://purl.bioontology.org/ontology/MESH/C535621 http://purl.bioontology.org/ontology/MESH/C536719 http://purl.bioontology.org/ontology/MESH/C535637 http://purl.bioontology.org/ontology/MESH/C536182 http://purl.bioontology.org/ontology/MESH/C536180 http://purl.bioontology.org/ontology/MESH/C536189 http://purl.bioontology.org/ontology/MESH/C536183 http://purl.bioontology.org/ontology/MESH/C536181 http://purl.bioontology.org/ontology/MESH/C538015 http://purl.bioontology.org/ontology/MESH/C538016 http://purl.bioontology.org/ontology/MESH/C538018 http://purl.bioontology.org/ontology/MESH/C563464 http://purl.bioontology.org/ontology/MESH/C564519 http://purl.bioontology.org/ontology/MESH/C563347 http://purl.bioontology.org/ontology/MESH/C535846 http://purl.bioontology.org/ontology/MESH/C535847 http://purl.bioontology.org/ontology/MESH/C565070 http://purl.bioontology.org/ontology/MESH/C537441 http://purl.bioontology.org/ontology/MESH/C535757 http://purl.bioontology.org/ontology/MESH/C564760 http://purl.bioontology.org/ontology/MESH/C535289 http://purl.bioontology.org/ontology/MESH/C536840 http://purl.bioontology.org/ontology/MESH/C537788 http://purl.bioontology.org/ontology/MESH/C565799 http://purl.bioontology.org/ontology/MESH/C565065 http://purl.bioontology.org/ontology/MESH/C565067 http://purl.bioontology.org/ontology/MESH/C565068 http://purl.bioontology.org/ontology/MESH/C565062 http://purl.bioontology.org/ontology/MESH/C536190 http://purl.bioontology.org/ontology/MESH/C536565 http://purl.bioontology.org/ontology/MESH/C566553 http://purl.bioontology.org/ontology/MESH/C565119 http://purl.bioontology.org/ontology/MESH/C566997 http://purl.bioontology.org/ontology/MESH/C567411 http://purl.bioontology.org/ontology/MESH/C562966 http://purl.bioontology.org/ontology/MESH/C535465 http://purl.bioontology.org/ontology/MESH/C564538 http://purl.bioontology.org/ontology/MESH/C537585 http://purl.bioontology.org/ontology/MESH/C538135 http://purl.bioontology.org/ontology/MESH/C537659 http://purl.bioontology.org/ontology/MESH/C536557 http://purl.bioontology.org/ontology/MESH/C536551 http://purl.bioontology.org/ontology/MESH/C564542 http://purl.bioontology.org/ontology/MESH/C538399 http://purl.bioontology.org/ontology/MESH/C563969 http://purl.bioontology.org/ontology/MESH/C536945 http://purl.bioontology.org/ontology/MESH/C538052 http://purl.bioontology.org/ontology/MESH/C537402 http://purl.bioontology.org/ontology/MESH/C537408 See more See less
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
HN	1965
subClassOf	http://purl.bioontology.org/ontology/MESH/D012868 http://purl.bioontology.org/ontology/MESH/D000015 http://purl.bioontology.org/ontology/MESH/D012873
Semantic type UMLS property	http://purl.bioontology.org/ontology/STY/T047 http://purl.bioontology.org/ontology/STY/T019
DC	1
MDA	19990101
type	http://www.w3.org/2002/07/owl#Class
tui	T047 T019
cui	C1706004 C0013575 C0282160 C0162361
Inverse of AQ	http://purl.bioontology.org/ontology/MESH/Q000097 http://purl.bioontology.org/ontology/MESH/Q000178 http://purl.bioontology.org/ontology/MESH/Q000175 http://purl.bioontology.org/ontology/MESH/Q000628 http://purl.bioontology.org/ontology/MESH/Q000276 http://purl.bioontology.org/ontology/MESH/Q000134 http://purl.bioontology.org/ontology/MESH/Q000139 http://purl.bioontology.org/ontology/MESH/Q000266 http://purl.bioontology.org/ontology/MESH/Q000378 http://purl.bioontology.org/ontology/MESH/Q000517 http://purl.bioontology.org/ontology/MESH/Q000662 http://purl.bioontology.org/ontology/MESH/Q000469 http://purl.bioontology.org/ontology/MESH/Q000150 http://purl.bioontology.org/ontology/MESH/Q000821 http://purl.bioontology.org/ontology/MESH/Q000191 http://purl.bioontology.org/ontology/MESH/Q000196 http://purl.bioontology.org/ontology/MESH/Q000473 http://purl.bioontology.org/ontology/MESH/Q000145 http://purl.bioontology.org/ontology/MESH/Q000382 http://purl.bioontology.org/ontology/MESH/Q000451 http://purl.bioontology.org/ontology/MESH/Q000453 http://purl.bioontology.org/ontology/MESH/Q000534 http://purl.bioontology.org/ontology/MESH/Q000532 http://purl.bioontology.org/ontology/MESH/Q000503 http://purl.bioontology.org/ontology/MESH/Q000188 http://purl.bioontology.org/ontology/MESH/Q000235 http://purl.bioontology.org/ontology/MESH/Q000201 http://purl.bioontology.org/ontology/MESH/Q000209 http://purl.bioontology.org/ontology/MESH/Q000208 http://purl.bioontology.org/ontology/MESH/Q000601 http://purl.bioontology.org/ontology/MESH/Q000000981 http://purl.bioontology.org/ontology/MESH/Q000652 http://purl.bioontology.org/ontology/MESH/Q000523 http://purl.bioontology.org/ontology/MESH/Q000401 See more See less
TERMUI	T665190 T834233 T812046 T812294 T013669 T834234 T817112 T013668 T013664 T665189 T812045 T013670 T812047 T834231 T013665 T812044 T013662 T753607 T834232 T013666 T013663 See more See less

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