Pilodental dysplasia with refractive errors

Preferred Label : Pilodental dysplasia with refractive errors;

Type : Other, mainly phenotypes with suspected mendelian basis;

Alternative titles and symbols : Trichodental dysplasia with hyperopia;

Inheritance : Autosomal recessive;

Prefixed ID : 262020;

Details

Origin ID

262020;

UMLS CUI

C1849805;

Currated CISMeF NLP mapping
- Euhidrotic ectodermal dysplasia [MeSH concept]
- Pilodental dysplasia - refractive errors [ICD-11 More detail]
- Pilodental dysplasia, refractive errors syndrome (disorder) [SNOMED CT concept]
- Pilodental dysplasia-refractive errors syndrome [ORDO Disease]
- euhidrotic ectodermal dysplasia [MeSH Supplementary Concept]
HPO term(s)
- Abnormality of the nail [HPO term]
- Autosomal recessive inheritance [HPO term]
- Brittle hair [HPO term]
- Brittle scalp hair [HPO term]
- Conical incisor [HPO term]
- Ectodermal dysplasia [HPO term]
- Follicular hyperkeratosis [HPO term]
- Hypermetropia [HPO term]
- Hypodontia [HPO term]
- Reticular hyperpigmentation [HPO term]
- Sparse scalp hair [HPO term]
- Wide nasal bridge [HPO term]
Not associated HPO term(s)
- Abnormal sweat gland morphology [HPO term]
ORDO concept(s)
- Pilodental dysplasia-refractive errors syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Euhidrotic ectodermal dysplasia [MeSH concept]
- Pilodental dysplasia, refractive errors syndrome (disorder) [SNOMED CT concept]
- Pilodental dysplasia-refractive errors syndrome [ORDO Disease]
- euhidrotic ectodermal dysplasia [MeSH Supplementary Concept]

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