campomelic dysplasia - Ontology Report

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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.

Term:	campomelic dysplasia	go back to main search page
Accession:	DOID:0050463	browse the term
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. (DO)
Synonyms:	exact_synonym:	CMD1; CMPD; CMPD1; CMPD1/SRA1; acampomelic campomelic dysplasia; acampomelic campomelic dysplasia with autosomal sex reversal; acampomelic campomelic dysplasias; campomelic dwarfism; campomelic dwarfisms; campomelic dysplasias; campomelic syndrome; campomelic syndromes; camptomelic dysplasia; camptomelic dysplasias
	narrow_synonym:	CMPD1/SRA1 campomelic dysplasia with autosomal sex reversal
	primary_id:	MESH:D055036
	alt_id:	OMIM:114290
	xref:	EFO:0004140; GARD:10027; MONDO:0007251; NCI:C120205; NCI:C84609; ORDO:140

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Genes (1)

campomelic dysplasia

Symbol

Object Name

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

Sox9

SRY-box transcription factor 9

ISO
ISS

OMIM:114290
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Acampomelic campomelic dysplasia | ClinVar Annotator: match by term: Acampomelic campomelic dysplasia with autosomal sex reversal | ClinVar Annotator: match by term: Campomelic Dysplasia | ClinVar Annotator: match by term: Camptomelic dysplasia

OMIM
MouseDO
CTD
ClinVar

PMID:1809232 PMID:7485151 PMID:7990924 PMID:8001137 PMID:8894698 More...

NCBI chr10:97,806,485...97,811,994
Ensembl chr10:97,806,485...97,811,994

Campomelic Dysplasia with Autosomal Sex Reversal