KEGG   DISEASE: Campomelic dysplasia
Entry
H00442                      Disease                                

Name
Campomelic dysplasia
  Supergrp
46,XY gonadal dysgenesis [DS:H00607]
Description
Campomelic dysplasia (CD) is a rare congenital skeletal dysplasia characterized by bowing of the long bones (campomelia). It is often associated with male-to-female autosomal sex reversal. Haploinsufficiency of SOX9 gene has been reported.
Category
Congenital malformation
Brite
Human diseases [BR:br08402]
 Congenital malformations
  Other congenital malformations
   H00442  Campomelic dysplasia
Human diseases in ICD-11 classification [BR:br08403]
 20 Developmental anomalies
  Multiple developmental anomalies or syndromes
   LD2A  Malformative disorders of sex development
    H00442  Campomelic dysplasia
Gene
SOX9 [HSA:6662] [KO:K18435]
Other DBs
ICD-11: LD2A.Y
ICD-10: Q87.1
MeSH: D055036
OMIM: 114290
Reference
  Authors
Lee YH, Saint-Jeannet JP
  Title
Sox9 function in craniofacial development and disease.
  Journal
Genesis 49:200-8 (2011)
DOI:10.1002/dvg.20717
LinkDB

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