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DO Term : spondyloepiphyseal dysplasia tarda with characteristic facies [DOID:0112289] Disease Ontology

Namespace

disease_ontology

Obsolete

false

description

A spondyloepiphyseal dysplasia tarda characterized by autosomal recessive inheritance of skeletal dysplasia, microcephaly, unusual facies, and moderate developmental delay.

synonyms:
600093,
OMIM:600093,
MESH:C564003

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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