ZFIN Human Disease: campomelic dysplasia

OBO ID: DOID:0050463

Term Name:	campomelic dysplasia		Search Ontology:
Synonyms:	Acampomelic Campomelic Dysplasia
Definition:	An osteochondrodysplasia that has_material_basis_in heterozygous mutation in the SOX9 gene on chromosome 17q24 and that is characterized by congenital shortness and bowing of long tubular bones, especially in the lower extremities, as well as by hypoplastic scapulae, narrow iliac wings, and nonmineralized thoracic pedicles. (3)
References:	GARD:10027 MESH:D055036 NCI:C120205 NCI:C84609 OMIM:114290 ORDO:140 UMLS_CUI:C1861922 UMLS_CUI:C1861923
Ontology:	Human Disease ( DOID:0050463 )

Relationships

is a type of:	autosomal dominant disease osteochondrodysplasia autosomal dominant disease osteochondrodysplasia Show first 5 Terms

OTHER campomelic dysplasia PAGES

Alliance (1)

GENES INVOLVED

Human Gene	Zebrafish Ortholog	OMIM Term	OMIM Phenotype ID
SOX9	sox9a sox9b	Campomelic dysplasia	114290
		Campomelic dysplasia with autosomal sex reversal	114290
		Acampomelic campomelic dysplasia	114290

ZEBRAFISH MODELS

Fish	Conditions	Citations
sox9a^{hi1134Tg/hi1134Tg}	standard conditions	(2)
sox9a^tw37/tw37	standard conditions	Yan et al., 2002

PHENOTYPE No data available

CITATIONS (2)