| Entry |
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| Name |
Campomelic dysplasia |
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| Supergrp |
46,XY gonadal dysgenesis [DS: H00607] |
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| 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.
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| Category |
Congenital malformation
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| 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
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| Gene |
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| Other DBs |
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| Reference |
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| Authors |
Lee YH, Saint-Jeannet JP |
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| Title |
Sox9 function in craniofacial development and disease. |
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| Journal |
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| LinkDB |
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