Odontoonychodermal dysplasia

Preferred Label : Odontoonychodermal dysplasia;

Symbol : OODD;

CISMeF acronym : OODD;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Ectodermal dysplasia 16, hypo- or hyperhidrotic/hair/tooth/nail type; ECTD16;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the wingless-type MMTV integration site family, member 10A gene (WNT10A, 606268.0001);

Prefixed ID : #257980;

Details

Origin ID

257980;

UMLS CUI

C0796093;

Currated CISMeF NLP mapping
- Odonto-onycho-dermal dysplasia [ICD-11 More detail]
- Odonto-onycho-dermal dysplasia [ORDO Disease]
- Odonto-onycho-dermal dysplasia (disorder) [SNOMED CT concept]
- Odontoonychodermal dysplasia [MeSH concept]
- odontoonychodermal dysplasia [MeSH Supplementary Concept]
Genes related to phenotype
- Wingless-type mmtv integration site family, member 10a [OMIM gene]
HPO term(s)
- Abnormality of primary teeth [HPO term]
- Abnormality of the skin [HPO term]
- Agenesis of permanent teeth [HPO term]
- Anonychia [HPO term]
- Autosomal recessive inheritance [HPO term]
- Dry hair [HPO term]
- Dry skin [HPO term]
- Dystrophic fingernails [HPO term]
- Dystrophic toenail [HPO term]
- Electron microscopic abnormality of the skin [HPO term]
- Epidermal acanthosis [HPO term]
- Erythema [HPO term]
- Fine hair [HPO term]
- Hypergranulosis [HPO term]
- Hyperhidrosis [HPO term]
- Hyperhidrosis of palms and soles [HPO term]
- Hypodontia [HPO term]
- Hypohidrosis [HPO term]
- Keratosis pilaris [HPO term]
- Nail dysplasia [HPO term]
- Orthokeratosis [HPO term]
- Palmoplantar hyperhidrosis [HPO term]
- Photophobia [HPO term]
- Plantar hyperkeratosis [HPO term]
- Smooth tongue [HPO term]
- Sparse and thin eyebrow [HPO term]
- Sparse body hair [HPO term]
- Sparse hair [HPO term]
- Sparse scalp hair [HPO term]
- Thin hair [HPO term]
ORDO concept(s)
- Odonto-onycho-dermal dysplasia [ORDO Disease]
See also inter- (CISMeF)
- WNT10A wt Allele [NCIt concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Odonto-onycho-dermal dysplasia (disorder) [SNOMED CT concept]
- Odontoonychodermal dysplasia [MeSH concept]
- odontoonychodermal dysplasia [MeSH Supplementary Concept]

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