FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term camptodactyly-tall stature-scoliosis-hearing loss syndrome ID (Ontology) DOID:0111160 (Human Disease)
Definition A syndrome characterized by camptodactyly, tall stature, scoliosis, and hearing loss that has_material_basis_in partial loss of function in the FGFR3 gene on chromosome 4p16.
Also Known As "CATSHL syndrome"
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DO.org
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 Genes
 camptodactyly-tall stature-scoliosis-hearing loss syndrome       1
 for disease ribbon | camptodactyly-tall stature-scoliosis-hearing loss syndrome       1
 model of | camptodactyly-tall stature-scoliosis-hearing loss syndrome       1
Spanning Tree (Parents/Children)
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monogenic disease
 |__autosomal genetic disease__
disease                        |
 |__syndrome___________________|
                               camptodactyly-tall stature-scoliosis-hearing loss syndrome  1 rec.
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Is a autosomal genetic disease
syndrome
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Synonyms
  • "CATSHL syndrome" EXACT
Secondary IDs
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MESH:C537975
MIM:610474
ORDO:85164
SNOMEDCT_US_2023_03_01:720601000
UMLS_CUI:C1864852