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DO Term : spondylometaphyseal dysplasia with bowed forearms and facial dysmorphism [DOID:0112305] Disease Ontology

Namespace

disease_ontology

Obsolete

false

description

A spondylometaphyseal dysplasia characterized by short stature, hyperlordosis, bowed legs, shortening and bowing of the forearms, abnormal face, and radiographic changes characteristic of spondylometaphyseal dysplasia.

synonyms:
spondylometaphyseal dysplasia-bowed forearms-facial dysmorphism syndrome,
MESH:C535791,
GARD:8719,
UMLS_CUI:C1843706,
SMD with bowed forearms and facial dysmorphism,
OMIM:607543,
607543,
ORDO:168552

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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