Ectodermal dysplasia 4, hair/nail type

Preferred Label : Ectodermal dysplasia 4, hair/nail type;

Symbol : ECTD4;

CISMeF acronym : ECTD4;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Ectodermal dysplasia, 'pure' hair/nail type;

Description : Some ectodermal dysplasias are here classified as congenital disorders characterized by abnormal development in 2 or more ectodermal structures (hair, nails, teeth, and sweat glands) without other systemic findings. Ectodermal dysplasia of the hair/nail type is a rare congenital condition characterized by hypotrichosis and nail dystrophy without nonectodermal or other ectodermal manifestations.;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the keratin 85 gene (KRT85, 602767.0001);

Prefixed ID : #602032;

Details

Origin ID

602032;

UMLS CUI

C4024880;

Currated CISMeF NLP mapping
- Pure hair and nail ectodermal dysplasia [ORDO Disease]
- ectodermal dysplasia 4 [DO Concept]
- ectodermal dysplasia, pure Hair-Nail type [MeSH Supplementary Concept]
- ectodermal dysplasia, pure Hair-Nail type [MeSH concept]
- pure hair and nail ectodermal dysplasia [DO Concept]
DO Cross reference
- ectodermal dysplasia 4 [DO Concept]
Genes related to phenotype
- Keratin 85, type II [OMIM gene]
HPO term(s)
- Absent eyebrow [HPO term]
- Absent eyelashes [HPO term]
- Alopecia [HPO term]
- Autosomal recessive inheritance [HPO term]
- Brittle hair [HPO term]
- Congenital onychodystrophy [HPO term]
- Hair-nail ectodermal dysplasia [HPO term]
- Nail dystrophy [HPO term]
- Onycholysis [HPO term]
- Pili torti [HPO term]
- Sparse body hair [HPO term]
- Temporal hypotrichosis [HPO term]
Not associated HPO term(s)
- Abnormal sweat gland morphology [HPO term]
- Abnormality of the dentition [HPO term]
- Intellectual disability [HPO term]
ORDO concept(s)
- Pure hair and nail ectodermal dysplasia [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Hair-nail ectodermal dysplasia [HPO term]
- Pure hair and nail ectodermal dysplasia [ORDO Disease]
- ectodermal dysplasia, pure Hair-Nail type [MeSH Supplementary Concept]
- ectodermal dysplasia, pure Hair-Nail type [MeSH concept]
- pure hair and nail ectodermal dysplasia [DO Concept]

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