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EXPERIMENTAL FACTOR ONTOLOGY - ANNOTATIONS

Term:ectodermal dysplasia syndrome
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Accession:EFO:MONDO:0019287 term browser browse the term
Definition:The term ''ectodermal dysplasia'' defines a heterogeneous group of heritable disorders of the skin and its appendages characterized by the defective development of two or more ectodermal derivatives, including hair, teeth, nails, sweat glands and their modified structures (i.e. ceruminous, mammary and ciliary glands). The spectrum of clinical manifestations is wide and may include additional manifestations from other ectodermal, mesodermal and endodermal structures.
Synonyms:exact_synonym: DOID:2121;   NCIT:C84683;   Orphanet:79373;   congenital ectodermal defect;   ectodermal dysplasia;   ectodermal dysplasia (select examples);   http://identifiers.org/medgen/8544;   http://identifiers.org/mesh/D004476;   http://identifiers.org/snomedct/8654005;   http://linkedlifedata.com/resource/umls/id/C0013575;   http://purl.obolibrary.org/obo/mondo/sources/icd11foundation/1156567558;   https://omim.org/phenotypicSeries/PS305100
 synonym: http://identifiers.org/meddra/10010452
 alt_id: MONDO:0019287
 xref: DOID:2121;   GARD:6317;   ICD9:757.31;   MEDGEN:8544;   MESH:D004476;   MIM:PS305100;   MedDRA:10010452;   NCI:C84683;   ORDO:79373;   SCTID:8654005;   UMLS:C0013575;   icd11.foundation:1156567558
 external_ontology: disease_has_basis_in_development_of EFO:UBERON:0000924


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Path 1
Term Annotations click to browse term
  experimental factor 0
    material property 0
      disposition 0
        disease 0
          syndromic disease 0
            ectodermal dysplasia syndrome 0
              ADULT syndrome 0
              AREDYLD syndrome 0
              Ackerman syndrome 0
              Barber-Say syndrome 0
              Bartsocas-Papas syndrome 1 0
              Böök syndrome 0
              CHIME syndrome 0
              CTSC-related disorder + 0
              Clouston syndrome 0
              Cronkhite-Canada syndrome 0
              Curly hair - acral keratoderma - caries syndrome 0
              Dahlberg-Borer-Newcomer syndrome 0
              Dubowitz syndrome 0
              EEM syndrome 0
              Ellis-van Creveld syndrome 0
              Fontaine progeroid syndrome 0
              Fried's tooth and nail syndrome 0
              GAPO syndrome 0
              Ito hypomelanosis 0
              Johnson neuroectodermal syndrome 0
              KID syndrome + 0
              Lelis syndrome 0
              Leukomelanoderma-infantilism-intellectual disability-hypodontia-hypotrichosis syndrome 0
              Marshall syndrome 0
              Naegeli-Franceschetti-Jadassohn syndrome 0
              Schinzel-Giedion syndrome 0
              Stern-Lubinsky-Durrie syndrome 0
              Teebi-Shaltout syndrome 0
              Toriello-Lacassie-Droste syndrome 0
              acrofacial dysostosis, Weyers type 0
              alopecia - contractures - dwarfism - intellectual disability syndrome 0
              amelocerebrohypohidrotic syndrome 0
              ameloonychohypohidrotic syndrome 0
              anhidrotic ectodermal dysplasia-immunodeficiency-osteopetrosis-lymphedema syndrome 0
              ankyloblepharon-ectodermal defects-cleft lip/palate syndrome + 0
              anonychia with flexural pigmentation 0
              arrhythmogenic cardiomyopathy with wooly hair and keratoderma + 0
              autosomal dominant palmoplantar keratoderma and congenital alopecia 0
              autosomal dominant trichoodontoonychodysplasia-syndactyly 0
              autosomal recessive palmoplantar keratoderma and congenital alopecia 0
              blepharocheilodontic syndrome + 0
              cardiofaciocutaneous syndrome + 0
              cartilage-hair hypoplasia + 0
              cataract-hypertrichosis-intellectual disability syndrome 0
              cerebellar ataxia-ectodermal dysplasia syndrome 0
              chondroectodermal dysplasia with night blindness 0
              choroidal atrophy-alopecia syndrome 0
              cleft lip/palate-ectodermal dysplasia syndrome + 0
              conductive deafness-ptosis-skeletal anomalies syndrome 0
              congenital hypotrichosis with juvenile macular dystrophy 0
              contractures-ectodermal dysplasia-cleft lip/palate syndrome 0
              cranioectodermal dysplasia 0
              deafness-onychodystrophy syndrome 0
              dermatoosteolysis, Kirghizian type 0
              dermatopathia pigmentosa reticularis 0
              dermo-odonto dysplasia 0
              dermotrichic syndrome 0
              dyskeratosis congenita + 0
              ectodermal dysplasia WNT10A related + 0
              ectodermal dysplasia with natal teeth, Turnpenny type 0
              ectodermal dysplasia, trichoodontoonychial type 0
              ectodermal dysplasia-blindness syndrome 0
              ectodermal dysplasia-intellectual disability-central nervous system malformation syndrome 0
              ectodermal dysplasia-sensorineural deafness syndrome 0
              ectodermal dysplasia-syndactyly syndrome + 0
              epidermolysis bullosa simplex due to plakophilin deficiency 0
              focal facial dermal dysplasia + 0
              gingival fibromatosis-hypertrichosis syndrome 0
              hidrotic ectodermal dysplasia, Christianson-Fourie type 0
              hidrotic ectodermal dysplasia, Halal type 0
              hypertrichosis cubiti-short stature syndrome 0
              hypertrichosis lanuginosa congenita + 0
              hypohidrotic ectodermal dysplasia + 0
              hypohidrotic ectodermal dysplasia-hypothyroidism-ciliary dyskinesia syndrome 0
              hypotrichosis-osteolysis-periodontitis-palmoplantar keratoderma syndrome 0
              ichthyosis-alopecia-eclabion-ectropion-intellectual disability syndrome 0
              incontinentia pigmenti 0
              limb-mammary syndrome 0
              nail and teeth abnormalities-marginal palmoplantar keratoderma-oral hyperpigmentation syndrome 0
              oculodentodigital dysplasia + 0
              oculoosteocutaneous syndrome 0
              oculotrichodysplasia 0
              odonto-onycho dysplasia-alopecia syndrome 0
              odonto-tricho-ungual-digito-palmar syndrome 0
              odontomicronychial dysplasia 0
              odontotrichomelic syndrome 0
              pili torti-onychodysplasia syndrome 0
              pilodental dysplasia-refractive errors syndrome 0
              pure hair and nail ectodermal dysplasia + 0
              scalp-ear-nipple syndrome 0
              taurodontia-absent teeth-sparse hair syndrome 0
              tooth and nail syndrome 0
              tricho-dento-osseous syndrome 0
              tricho-oculo-dermo-vertebral syndrome 0
              tricho-retino-dento-digital syndrome 0
              trichodental syndrome 0
              trichodermodysplasia-dental alterations syndrome 0
              trichodysplasia-amelogenesis imperfecta syndrome 0
              trichomegaly-retina pigmentary degeneration-dwarfism syndrome 0
              trichoodontoonychial dysplasia 0
              trichorhinophalangeal syndrome + 0
              trichothiodystrophy + 0
Path 2
Term Annotations click to browse term
  experimental factor 0
    material property 0
      disposition 0
        disease 0
          integumentary system disease 0
            skin disease 0
              hereditary epidermal appendage anomaly 0
                ectodermal dysplasia syndrome 0
                  ADULT syndrome 0
                  AREDYLD syndrome 0
                  Ackerman syndrome 0
                  Barber-Say syndrome 0
                  Bartsocas-Papas syndrome 1 0
                  Böök syndrome 0
                  CHIME syndrome 0
                  CTSC-related disorder + 0
                  Clouston syndrome 0
                  Cronkhite-Canada syndrome 0
                  Curly hair - acral keratoderma - caries syndrome 0
                  Dahlberg-Borer-Newcomer syndrome 0
                  Dubowitz syndrome 0
                  EEM syndrome 0
                  Ellis-van Creveld syndrome 0
                  Fontaine progeroid syndrome 0
                  Fried's tooth and nail syndrome 0
                  GAPO syndrome 0
                  Ito hypomelanosis 0
                  Johnson neuroectodermal syndrome 0
                  KID syndrome + 0
                  Lelis syndrome 0
                  Leukomelanoderma-infantilism-intellectual disability-hypodontia-hypotrichosis syndrome 0
                  Marshall syndrome 0
                  Naegeli-Franceschetti-Jadassohn syndrome 0
                  Schinzel-Giedion syndrome 0
                  Stern-Lubinsky-Durrie syndrome 0
                  Teebi-Shaltout syndrome 0
                  Toriello-Lacassie-Droste syndrome 0
                  acrofacial dysostosis, Weyers type 0
                  alopecia - contractures - dwarfism - intellectual disability syndrome 0
                  amelocerebrohypohidrotic syndrome 0
                  ameloonychohypohidrotic syndrome 0
                  anhidrotic ectodermal dysplasia-immunodeficiency-osteopetrosis-lymphedema syndrome 0
                  ankyloblepharon-ectodermal defects-cleft lip/palate syndrome + 0
                  anonychia with flexural pigmentation 0
                  arrhythmogenic cardiomyopathy with wooly hair and keratoderma + 0
                  autosomal dominant palmoplantar keratoderma and congenital alopecia 0
                  autosomal dominant trichoodontoonychodysplasia-syndactyly 0
                  autosomal recessive palmoplantar keratoderma and congenital alopecia 0
                  blepharocheilodontic syndrome + 0
                  cardiofaciocutaneous syndrome + 0
                  cartilage-hair hypoplasia + 0
                  cataract-hypertrichosis-intellectual disability syndrome 0
                  cerebellar ataxia-ectodermal dysplasia syndrome 0
                  chondroectodermal dysplasia with night blindness 0
                  choroidal atrophy-alopecia syndrome 0
                  cleft lip/palate-ectodermal dysplasia syndrome + 0
                  conductive deafness-ptosis-skeletal anomalies syndrome 0
                  congenital hypotrichosis with juvenile macular dystrophy 0
                  contractures-ectodermal dysplasia-cleft lip/palate syndrome 0
                  cranioectodermal dysplasia 0
                  deafness-onychodystrophy syndrome 0
                  dermatoosteolysis, Kirghizian type 0
                  dermatopathia pigmentosa reticularis 0
                  dermo-odonto dysplasia 0
                  dermotrichic syndrome 0
                  dyskeratosis congenita + 0
                  ectodermal dysplasia WNT10A related + 0
                  ectodermal dysplasia with natal teeth, Turnpenny type 0
                  ectodermal dysplasia, trichoodontoonychial type 0
                  ectodermal dysplasia-blindness syndrome 0
                  ectodermal dysplasia-intellectual disability-central nervous system malformation syndrome 0
                  ectodermal dysplasia-sensorineural deafness syndrome 0
                  ectodermal dysplasia-syndactyly syndrome + 0
                  epidermolysis bullosa simplex due to plakophilin deficiency 0
                  focal facial dermal dysplasia + 0
                  gingival fibromatosis-hypertrichosis syndrome 0
                  hidrotic ectodermal dysplasia, Christianson-Fourie type 0
                  hidrotic ectodermal dysplasia, Halal type 0
                  hypertrichosis cubiti-short stature syndrome 0
                  hypertrichosis lanuginosa congenita + 0
                  hypohidrotic ectodermal dysplasia + 0
                  hypohidrotic ectodermal dysplasia-hypothyroidism-ciliary dyskinesia syndrome 0
                  hypotrichosis-osteolysis-periodontitis-palmoplantar keratoderma syndrome 0
                  ichthyosis-alopecia-eclabion-ectropion-intellectual disability syndrome 0
                  incontinentia pigmenti 0
                  limb-mammary syndrome 0
                  nail and teeth abnormalities-marginal palmoplantar keratoderma-oral hyperpigmentation syndrome 0
                  oculodentodigital dysplasia + 0
                  oculoosteocutaneous syndrome 0
                  oculotrichodysplasia 0
                  odonto-onycho dysplasia-alopecia syndrome 0
                  odonto-tricho-ungual-digito-palmar syndrome 0
                  odontomicronychial dysplasia 0
                  odontotrichomelic syndrome 0
                  pili torti-onychodysplasia syndrome 0
                  pilodental dysplasia-refractive errors syndrome 0
                  pure hair and nail ectodermal dysplasia + 0
                  scalp-ear-nipple syndrome 0
                  taurodontia-absent teeth-sparse hair syndrome 0
                  tooth and nail syndrome 0
                  tricho-dento-osseous syndrome 0
                  tricho-oculo-dermo-vertebral syndrome 0
                  tricho-retino-dento-digital syndrome 0
                  trichodental syndrome 0
                  trichodermodysplasia-dental alterations syndrome 0
                  trichodysplasia-amelogenesis imperfecta syndrome 0
                  trichomegaly-retina pigmentary degeneration-dwarfism syndrome 0
                  trichoodontoonychial dysplasia 0
                  trichorhinophalangeal syndrome + 0
                  trichothiodystrophy + 0
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