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DO Term : spondyloepiphyseal dysplasia-brachydactyly and distinctive speech [DOID:0112287] Disease Ontology

Namespace

disease_ontology

Obsolete

false

description

A spondyloepiphyseal dysplasia characterized by spondyloepiphyseal dysplasia, brachydactyly, and distinctive speech.

synonyms:
GARD:10629,
OMIM:611717,
ORDO:163654,
SED-brachydactyly and distinctive speech,
SED-BDS,
611717,
spondyloepiphyseal dysplasia, Cantu type,
Fantasy Island syndrome,
UMLS_CUI:C2673649,
SNOMEDCT_US_2023_03_01:718765003,
MESH:C567128,
Tattoo dysplasia

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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