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DO Term : short-rib thoracic dysplasia 9 with or without polydactyly [DOID:0110097] Disease Ontology
Namespace  disease_ontology Obsolete  false
description  An asphyxiating thoracic dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the IFT140 gene on chromosome 16p13.
  • synonyms:
  • renal dysplasia, retinal pigmentary dystrophy, cerebellar ataxia and skeletal dysplasia,
  • ICD10CM:Q87.5,
  • 266920,
  • OMIM:266920,
  • SRTD9
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Disease

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Diseases --> Mouse models

Ontology

Ontology Term --> All ancestors

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Ontology Term --> Direct children

Ontology Term --> Direct parents





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