Desbuquois dysplasia
osteochondrodysplasia characterized by short stature, joint laxity, scoliosis, and advanced carpal ossification with a delta phalanx
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Desbuquois dysplasia
Summary
Desbuquois dysplasia is a rare disease[1].
Key Facts
- Desbuquois dysplasia's instance of is recorded as rare disease[2].
- Desbuquois dysplasia's instance of is recorded as class of disease[3].
- Desbuquois dysplasia's subclass of is recorded as osteochondrodysplasia[4].
- Desbuquois dysplasia's MeSH descriptor ID is recorded as C535943[5].
- Desbuquois dysplasia's OMIM ID is recorded as 251450[6].
- Desbuquois dysplasia's OMIM ID is recorded as 615777[7].
- Desbuquois dysplasia's KEGG ID is recorded as H00494[8].
- Desbuquois dysplasia's Disease Ontology ID is recorded as DOID:0060462[9].
- Desbuquois dysplasia's Orphanet ID is recorded as 1425[10].
- Desbuquois dysplasia's NCI Thesaurus ID is recorded as C124056[11].
- Desbuquois dysplasia's genetic association is recorded as XYLT1[12].
- Desbuquois dysplasia's genetic association is recorded as CANT1[13].
- Desbuquois dysplasia's Google Knowledge Graph ID is recorded as /g/1s054m1g2[14].
- Desbuquois dysplasia's exact match is recorded as http://purl.obolibrary.org/obo/DOID_0060462[15].
- Desbuquois dysplasia's exact match is recorded as http://identifiers.org/doid/DOID:0060462[16].
- Desbuquois dysplasia's exact match is recorded as http://www.orpha.net/ORDO/Orphanet_1425[17].
- Desbuquois dysplasia's UMLS CUI is recorded as C0432242[18].
- Desbuquois dysplasia's GARD rare disease ID is recorded as 1818[19].
- Desbuquois dysplasia's on focus list of Wikimedia project is recorded as WikiProject Medicine[20].
- Desbuquois dysplasia's UniProt disease ID is recorded as DI-02521[21].