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DO Term : Johanson-Blizzard syndrome [DOID:14694] Disease Ontology
Namespace  disease_ontology Obsolete  false
description  A syndrome that involves abnormal development of the pancreas, nose and scalp, with mental retardation, hearing loss and growth failure. It is inherited in an autosomal recessive manner.
  • synonyms:
  • GARD:80,
  • MESH:C535880,
  • 243800,
  • OMIM:243800,
  • UMLS_CUI:C0175692,
  • ORDO:2315,
  • JBS,
  • SNOMEDCT_US_2023_03_01:75979009
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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





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