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DO Term : Desbuquois dysplasia [DOID:0060462] Disease Ontology

Namespace

disease_ontology

Obsolete

false

description

An osteochondrodysplasia characterized by short stature, joint laxity, scoliosis, and advanced carpal ossification with a delta phalanx.

synonyms:
GARD:1818,
OMIM:251450,
ORDO:1425,
NCI:C124056,
Desbuquois syndrome,
MESH:C535943,
micromelic dwarfism with vertebral and metaphyseal abnormalities and advanced carpotarsal ossification,
615777,
SNOMEDCT_US_2023_03_01:254099008,
251450,
UMLS_CUI:C0432242,
OMIM:615777

Disease

Diseases --> Human genes

Diseases --> Mouse genes

Diseases --> Mouse models

Ontology

Ontology Term --> All ancestors

Ontology Term --> All descendants

Ontology Term --> Direct children

Ontology Term --> Direct parents

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