Camptodactyly syndrome, guadalajara, type III

Preferred Label : Camptodactyly syndrome, guadalajara, type III;

Type : Phenotype or locus, molecular basis unknown;

Inheritance : Autosomal dominant;

Prefixed ID : %611929;

Details

Origin ID

611929;

UMLS CUI

C2677809;

Automatic exact mappings (from CISMeF team)
- Camptodactyly syndrome, Guadalajara type 3 [ORDO Disease]
- camptodactyly syndrome, guadalajara, type ii [MeSH concept]
Currated CISMeF NLP mapping
- Camptodactyly syndrome Guadalajara type 3 (disorder) [SNOMED CT concept]
- camptodactyly syndrome, guadalajara, type III [MeSH concept]
- camptodactyly syndrome, guadalajara, type III [MeSH Supplementary Concept]
HPO term(s)
- Abnormality of the pinna [HPO term]
- Absent phalangeal crease [HPO term]
- Autosomal dominant inheritance [HPO term]
- Camptodactyly [HPO term]
- Delayed skeletal maturation [HPO term]
- Flat face [HPO term]
- Generalized hypotonia [HPO term]
- Global developmental delay [HPO term]
- Hypertelorism [HPO term]
- Hypotonia [HPO term]
- Intellectual disability, mild [HPO term]
- Joint contracture of the hand [HPO term]
- Malar flattening [HPO term]
- Micropenis [HPO term]
- Nevus [HPO term]
- Poorly formed pinnae [HPO term]
- Retrognathia [HPO term]
- Short neck [HPO term]
- Small hypothenar eminence [HPO term]
- Small thenar eminence [HPO term]
- Spina bifida occulta [HPO term]
- Symblepharon [HPO term]
- Telecanthus [HPO term]
- Torticollis [HPO term]
- Webbed neck [HPO term]
ORDO concept(s)
- Camptodactyly syndrome, Guadalajara type 3 [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Camptodactyly syndrome Guadalajara type 3 (disorder) [SNOMED CT concept]
- camptodactyly syndrome, guadalajara, type III [MeSH Supplementary Concept]
- camptodactyly syndrome, guadalajara, type III [MeSH concept]

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