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DO Term : Joubert syndrome with orofaciodigital defect [DOID:0060376] Disease Ontology
Namespace  disease_ontology Obsolete  false
description  A Joubert syndrome that is characterized by orofaciodigital defect.
  • synonyms:
  • Polydactyly cleft lip palate psychomotor retardation,
  • MESH:C536531,
  • ORDO:2754,
  • GARD:4412,
  • orofaciodigital syndrome VI,
  • 277170,
  • UMLS_CUI:C2745997,
  • NCI:C124841,
  • SNOMEDCT_US_2023_03_01:721873007,
  • Varadi-Papp syndrome,
  • Varadi syndrome,
  • OFD6,
  • OMIM:277170
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Disease

Diseases --> Human genes

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Diseases --> Mouse models

Ontology

Ontology Term --> All ancestors

Ontology Term --> All descendants

Ontology Term --> Direct children

Ontology Term --> Direct parents





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