Camptodactyly, tall stature, and hearing loss syndrome

Preferred Label : Camptodactyly, tall stature, and hearing loss syndrome;

Symbol : CATSHLS;

CISMeF acronym : CATSHLS;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Catshl syndrome;

Inheritance : Autosomal dominant (1 family); Autosomal recessive (1 family);

Molecular basis : Caused by mutation in the fibroblast growth factor receptor 3 gene (FGFR3, 134934.0029);

Prefixed ID : #610474;

Détails

Origin ID

610474;

UMLS CUI

C1864852;

Automatic exact mappings (from CISMeF team)
- camptodactyly-tall stature-scoliosis-hearing loss syndrome [DO Concept]
Currated CISMeF NLP mapping
- CATSHL syndrome [MeSH concept]
- CATSHL syndrome [MeSH Supplementary Concept]
- Camptodactyly - tall stature - scoliosis - hearing loss [ICD-11 More detail]
- Camptodactyly-tall stature-scoliosis-hearing loss syndrome [ORDO Disease]
DO Cross reference
- camptodactyly-tall stature-scoliosis-hearing loss syndrome [DO Concept]
Genes related to phenotype
- Fibroblast growth factor receptor 3 [OMIM gene]
HPO term(s)
- Arachnodactyly [HPO term]
- Autosomal dominant inheritance [HPO term]
- Autosomal recessive inheritance [HPO term]
- Broad femoral metaphyses [HPO term]
- Camptodactyly of toe [HPO term]
- Disproportionately tall vertebral bodies [HPO term]
- Global developmental delay [HPO term]
- High palate [HPO term]
- Increased vertebral height [HPO term]
- Intellectual disability [HPO term]
- Joint contracture of the hand [HPO term]
- Microcephaly [HPO term]
- Osteochondroma [HPO term]
- Pectus excavatum [HPO term]
- Scoliosis [HPO term]
- Sensorineural hearing impairment [HPO term]
- Tall stature [HPO term]
ORDO concept(s)
- Camptodactyly-tall stature-scoliosis-hearing loss syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- CATSHL syndrome [MeSH Supplementary Concept]
- CATSHL syndrome [MeSH concept]
- Camptodactyly - tall stature - scoliosis - hearing loss [ICD-11 More detail]
- Camptodactyly and tall stature with scoliosis and hearing loss syndrome (disorder) [SNOMED CT concept]
- Camptodactyly-tall stature-scoliosis-hearing loss syndrome [ORDO Disease]
- camptodactyly-tall stature-scoliosis-hearing loss syndrome [DO Concept]

Position du mot-clé dans l'(les) arborescence(s) :

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