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DO Term : geleophysic dysplasia [DOID:0111724] Disease Ontology

Namespace

disease_ontology

Obsolete

false

description

A bone development disease characterized by short-limb dwarfism, brachydactyly, cardiac valvular disease, characteristic facial appearance, skin thickening, and laryngotracheal stenosis.

synonyms:
GARD:2449,
OMIM:PS231050,
PS231050,
geleophysic dwarfism,
GPHYSD,
SNOMEDCT_US_2023_03_01:28557005,
ORDO:2623,
UMLS_CUI:C3489726,
MEDDRA:10063361

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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