Hearing Loss Disease Portal


 
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Most Common: Hearing Loss (D034381), Deafness (D003638), Sensorineural HL (D006319), Waardenburg Syndrome, Usher Syndromes
Disease Browser
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Anodontia (D000848)
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Ectodermal Dysplasia (D004476)
Parent Node:
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Hypotrichosis (D007039)
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Ectodermal Dysplasia, Trichoodontoonychial Type (C565068)

       Child Nodes:



 Sister Nodes: 
..expandAlopecia (D000505) Child61
..expandBasaran Yilmaz syndrome (C537660)
..expandBazex-Dupre-Christol syndrome (C537663)
..expandBrachymetapody-Anodontia-Hypotrichosis-Albinoidism (C565893)
..expandEctodermal Dysplasia, Trichoodontoonychial Type (C565068)
..expandHypotrichosis 5 (C567554)
..expandHypotrichosis And Recurrent Skin Vesicles (C567751)
..expandHypotrichosis simplex (C537160) Child1
..expandHypotrichosis Simplex of Scalp (C564143)
..expandHypotrichosis, Localized, Autosomal Recessive 1 (C564312)
..expandHypotrichosis, Localized, Autosomal Recessive, 3 (C566950)
..expandHypotrichosis, Progressive Patterned Scalp, with Wiry Hair, Onycholysis, and Cleft Lip/Palate (C563765)
..expandHypotrichosis-Lymphedema-Telangiectasia Syndrome (C564327)
..expandHypotrichosis-Osteolysis-Periodontitis-Palmoplantar Keratoderma Syndrome (C564357)
..expandIchthyosis with hypotrichosis, autosomal recessive (C536273) Child1
..expandIchthyosis, Follicular Atrophoderma, Hypotrichosis, and Hypohidrosis (C566554) Child1
..expandJuvenile macular degeneration and hypotrichosis (C537698)
..expandLeukomelanoderma, Infantilism, Mental Retardation, Hypodontia, Hypotrichosis (C565440)
..expandMarie Unna congenital hypotrichosis (C535912)
..expandMarie Unna Hereditary Hypotrichosis 1 (C567718)
..expandNicolaides Baraitser syndrome (C536116)
..expandRombo syndrome (C535870)
..expandSchopf-Schulz-Passarge Syndrome (C565607)
..expandSpondyloepimetaphyseal dysplasia with hypotrichosis (C535783)
..expandStorm Syndrome (C566109)
..expandTrichoodontoonychial Dysplasia (C564760)
   

Human Disease MESH is developed by UMLS.
Further data from MedGen, OMIM, CTD
Term ID:3624
Name:Ectodermal Dysplasia, Trichoodontoonychial Type
Definition:
Alternative IDs:
ParentIDs:MESH:D000848|MESH:D004476|MESH:D007039
TreeNumbers:C07.650.800.100/C565068 |C07.793.700.100/C565068 |C16.131.077.350/C565068 |C16.131.831.350/C565068 |C16.131.850.800.100/C565068 |C16.320.850.250/C565068 |C17.800.329.937/C565068 |C17.800.804.350/C565068 |C17.800.827.250/C565068
Synonyms:
Slim Mappings:Congenital abnormality|Genetic disease (inborn)|Mouth disease|Skin disease
Reference: MedGen: C565068
MeSH: C565068
OMIM: 129510;

Genes:
Phenotypes
1 HP:0000006Autosomal dominant inheritance
2 HP:0000765Abnormal thorax morphology
3 HP:0002561Absent nipple
4 HP:0000968Ectodermal dysplasia
5 HP:0000668Hypodontia
6 HP:0007521Irregular hyperpigmentation of back
7 HP:0008587Mild neurosensory hearing impairment
8 HP:0001006obsolete Hypotrichosis
Disease Causing ClinVar Variants