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DO Term : short-rib thoracic dysplasia 10 with or without polydactyly [DOID:0110091] Disease Ontology

Namespace  disease_ontology Obsolete  false
description  An asphyxiating thoracic dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the IFT172 gene on chromosome 2p23.
  • synonyms:
  • SRTD10,
  • ICD10CM:Q77.2,
  • 615630,
  • ICD10CM:Q87.5,
  • OMIM:615630
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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