Desbuquois Dysplasia

Preferred Label : Desbuquois Dysplasia;

NCIt synonyms : DBQD;

NCIt definition : A rare osteochondrodysplasia characterized by short stature, joint laxity, multiple dislocations, vertebral and metaphyseal abnormalities, and advanced carpotarsal ossification. Two forms have been identified: type 1 caused by mutation in the gene CANT1 and type 2 caused by mutations in the gene XYLT1.;

Details

Origin ID

C124056;

UMLS CUI

C0432242;

Currated CISMeF NLP mapping
- Desbuquois dysplasia [DO Concept]
- Desbuquois dysplasia [OMIM phenotypic series]
- Desbuquois syndrome [ORDO Disease]
- Desbuquois syndrome (disorder) [SNOMED CT concept]
- desbuquois syndrome [MeSH Supplementary Concept]
DO Cross reference
- Desbuquois dysplasia [DO Concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Desbuquois dysplasia [DO Concept]
- Desbuquois syndrome [ORDO Disease]
- Desbuquois syndrome [MeSH concept]
- Desbuquois syndrome (disorder) [SNOMED CT concept]
- desbuquois syndrome [MeSH Supplementary Concept]
Validated automatic mappings to BTNT
- Desbuquois dysplasia 1 [OMIM Phenotype]
disease_has_finding
- Rare Lesion [NCIt concept]

Keyword's position in hierarchy(ies) :

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