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Ectodermal dysplasia, trichoodontoonychial type

MedGen UID:
338798
•Concept ID:
C1851858
•
Disease or Syndrome
Synonym: Ectodermal Dysplasia, Trichoodontoonychial Type
SNOMED CT: Ectodermal dysplasia trichoodontoonychial type (734018003)
 
Monarch Initiative: MONDO:0007511
OMIM®: 129510
Orphanet: ORPHA1818

Definition

A form of ectodermal dysplasia with hair, teeth and nail involvement. The disease has predominant characteristics of hypodontia, hypotrichosis, delayed hair growth and brittle nails. Additionally focal dermal hypoplasia, irregular hyperpigmentation, hypoplastic or absent nipples, amastia, hearing impairment, congenital hip dislocation and asthma have been associated. There have been no further descriptions in the literature since 1996. [from SNOMEDCT_US]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVEctodermal dysplasia, trichoodontoonychial type
Follow this link to review classifications for Ectodermal dysplasia, trichoodontoonychial type in Orphanet.

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