Craniofacial-deafness-hand syndrome

Preferred Label : Craniofacial-deafness-hand syndrome;

Symbol : CDHS;

CISMeF acronym : CDHS;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal dominant;

Prefixed ID : #122880;

Détails

Origin ID

122880;

UMLS CUI

C1852510;

Automatic exact mappings (from CISMeF team)
- Craniofacial-deafness-hand syndrome [ICD-11 More detail]
- PAX3 wt Allele [NCIt concept]
Currated CISMeF NLP mapping
- Craniofacial deafness hand syndrome [MeSH concept]
- Craniofacial deafness hand syndrome (disorder) [SNOMED CT concept]
- Craniofacial-deafness-hand syndrome [ORDO Disease]
- craniofacial deafness hand syndrome [MeSH Supplementary Concept]
- craniofacial-deafness-hand syndrome [DO Concept]
DO Cross reference
- craniofacial-deafness-hand syndrome [DO Concept]
Genes related to phenotype
- Paired box gene 3 [OMIM gene]
HPO term(s)
- Autosomal dominant inheritance [HPO term]
- Flat face [HPO term]
- Hypertelorism [HPO term]
- Hypoplasia of the maxilla [HPO term]
- Malar flattening [HPO term]
- Sensorineural hearing impairment [HPO term]
- Short nose [HPO term]
- Ulnar deviation of the hand [HPO term]
- Ulnar deviation of the hand or of fingers of the hand [HPO term]
ORDO concept(s)
- Craniofacial-deafness-hand syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Craniofacial deafness hand syndrome [MeSH concept]
- Craniofacial deafness hand syndrome (disorder) [SNOMED CT concept]
- Craniofacial-deafness-hand syndrome [ORDO Disease]
- craniofacial deafness hand syndrome [MeSH Supplementary Concept]
- craniofacial-deafness-hand syndrome [DO Concept]

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