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EXPERIMENTAL FACTOR ONTOLOGY - ANNOTATIONS

Term:camptodactyly-tall stature-scoliosis-hearing loss syndrome
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Accession:EFO:MONDO:0012504 term browser browse the term
Definition:Camptodactyly-tall stature-scoliosis-hearing loss syndrome is characterized by camptodactyly, tall stature, scoliosis, and hearing loss (CATSHL). It has been described in around 30 individuals from seven generations of the same family. The syndrome is caused by a missense mutation in the FGFR3 gene, leading to a partial loss of function of the encoded protein, which is a negative regulator of bone growth.
Synonyms:exact_synonym: CATSHL syndrome
 related_synonym: CATSHLS;   camptodactyly, tall stature, and hearing loss syndrome
 alt_id: MONDO:0012504
 xref: DOID:0111160;   GARD:10012;   MEDGEN:355844;   MESH:C537975;   MIM:610474;   ORDO:85164;   UMLS:C1864852


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  experimental factor 0
    material property 0
      disposition 0
        disease 0
          genetic disorder 0
            autosomal genetic disease 0
              camptodactyly-tall stature-scoliosis-hearing loss syndrome 0
Path 2
Term Annotations click to browse term
  experimental factor 0
    material property 0
      disposition 0
        disease 0
          musculoskeletal system disease 0
            skeletal system disease 0
              bone disease 0
                skeletal dysplasia 0
                  FGFR3-related chondrodysplasia 0
                    camptodactyly-tall stature-scoliosis-hearing loss syndrome 0
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