Syndactyly-polydactyly-earlobe syndrome

Preferred Label : Syndactyly-polydactyly-earlobe syndrome;

Type : Phenotype or locus, molecular basis unknown;

Alternative titles and symbols : Spel syndrome;

Inheritance : Autosomal dominant;

Prefixed ID : %186350;

Details

Origin ID

186350;

UMLS CUI

C1861347;

Currated CISMeF NLP mapping
- Syndactyly, polydactyly, ear lobe syndrome (disorder) [SNOMED CT concept]
- Syndactyly-Polydactyly-Earlobe syndrome [MeSH concept]
- Syndactyly-Polydactyly-Earlobe syndrome [MeSH Supplementary Concept]
- Syndactyly-polydactyly-ear lobe syndrome [ORDO Disease]
HPO term(s)
- 1-2 toe complete cutaneous syndactyly [HPO term]
- Abnormal earlobe morphology [HPO term]
- Autosomal dominant inheritance [HPO term]
- Bifid distal phalanx of toe [HPO term]
- Broad toe [HPO term]
- Preaxial foot polydactyly [HPO term]
- Preaxial hand polydactyly [HPO term]
ORDO concept(s)
- Syndactyly-polydactyly-ear lobe syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Syndactyly-Polydactyly-Earlobe syndrome [MeSH Supplementary Concept]
- Syndactyly-Polydactyly-Earlobe syndrome [MeSH concept]
- Syndactyly-polydactyly-ear lobe syndrome [ORDO Disease]

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