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DO Term : pontocerebellar hypoplasia type 6 [DOID:0060275] Disease Ontology
Namespace  disease_ontology Obsolete  false
description  A pontocerebellar hypoplasia that is characterized by olivopontocerebellar hypoplasia and developmental delay, has_material_basis_in autosomal recessive inheritance of mutation in the RARS2 gene.
  • synonyms:
  • 611523,
  • GARD:10710,
  • OMIM:611523,
  • MESH:C548074,
  • ORDO:166073,
  • SNOMEDCT_US_2023_03_01:718606005,
  • UMLS_CUI:C1969084
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Disease

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Ontology

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