Chand syndrome

Preferred Label : Chand syndrome;

Symbol : CHANDS;

CISMeF acronym : CHANDS;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Curly hair-ankyloblepharon-nail dysplasia syndrome;

Inheritance : Autosomal recessive;

Prefixed ID : #214350;

Détails

Origin ID

214350;

UMLS CUI

C0406733;

Automatic exact mappings (from CISMeF team)
- Curly hair – ankyloblepharon – nail dysplasia syndrome [ICD-11 More detail]
Currated CISMeF NLP mapping
- CHAND syndrome [ORDO Disease]
- Curly hair, ankyloblepharon, nail dysplasia syndrome (disorder) [SNOMED CT concept]
- Curly hair-ankyloblepharon-nail dysplasia syndrome [MeSH concept]
- curly hair-ankyloblepharon-nail dysplasia syndrome [MeSH Supplementary Concept]
Genes related to phenotype
- Receptor-interacting serine-threonine kinase 4 [OMIM gene]
HPO term(s)
- Ankyloblepharon [HPO term]
- Autosomal recessive inheritance [HPO term]
- Commissural lip pit [HPO term]
- Curly hair [HPO term]
- Nail dysplasia [HPO term]
ORDO concept(s)
- CHAND syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- CHAND syndrome [ORDO Disease]
- Curly hair, ankyloblepharon, nail dysplasia syndrome (disorder) [SNOMED CT concept]
- Curly hair-ankyloblepharon-nail dysplasia syndrome [MeSH concept]
- curly hair-ankyloblepharon-nail dysplasia syndrome [MeSH Supplementary Concept]

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