Ectrodactyly and ectodermal dysplasia without cleft lip/palate

Preferred Label : Ectrodactyly and ectodermal dysplasia without cleft lip/palate;

Type : Other, mainly phenotypes with suspected mendelian basis;

Alternative titles and symbols : Eec syndrome without cleft lip/palate;

Inheritance : Autosomal dominant; ? same as EEC syndrome;

Prefixed ID : 129810;

Details

Origin ID

129810;

UMLS CUI

C1851849;

Currated CISMeF NLP mapping
- EEC syndrome [ORDO Disease]
- Ectrodactyly and Ectodermal Dysplasia without Cleft Lip-Palate [MeSH concept]
- Ectrodactyly and Ectodermal Dysplasia without Cleft Lip-Palate [MeSH Supplementary Concept]
- Ectrodactyly-cleft lip-palate syndrome [MeSH Supplementary Concept]
- Ectrodactyly-ectodermal dysplasia without clefting syndrome [ORDO Disease]
HPO term(s)
- Abnormality of the dentition [HPO term]
- Autosomal dominant inheritance [HPO term]
- Ectodermal dysplasia [HPO term]
- Hypotrichosis [HPO term]
- Sparse hair [HPO term]
- Split foot [HPO term]
- Split hand [HPO term]
Not associated HPO term(s)
- Cleft lip [HPO term]
- Oral cleft [HPO term]
ORDO concept(s)
- Ectrodactyly-ectodermal dysplasia without clefting syndrome [ORDO Disease]
See also inter- (CISMeF)
- ectrodactyly ectodermal dysplasia cleft syndrome [Disease (Nov.)]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Ectrodactyly and Ectodermal Dysplasia without Cleft Lip-Palate [MeSH Supplementary Concept]
- Ectrodactyly and Ectodermal Dysplasia without Cleft Lip-Palate [MeSH concept]

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