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DO Term : short-rib thoracic dysplasia 19 with or without polydactyly [DOID:0080295] Disease Ontology

Namespace

disease_ontology

Obsolete

false

description

An asphyxiating thoracic dystrophy that has_material_basis_in compound heterozygous mutation in the IFT81 gene on chromosome 12q24.

synonyms:
OMIM:617895,
617895

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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