Search Ontology:
Human Disease
Joubert syndrome with orofaciodigital defect
- Term ID
- DOID:0060376
- Synonyms
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- OFD6
- orofaciodigital syndrome VI
- Polydactyly cleft lip palate psychomotor retardation
- Varadi syndrome
- Varadi-Papp syndrome
- Definition
- A Joubert syndrome that is characterized by orofaciodigital defect. https://www.ncbi.nlm.nih.gov/pubmed/23716954
- References
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- GARD:4412
- MESH:C536531
- MIM:277170
- NCI:C124841
- ORDO:2754
- SNOMEDCT_US_2023_03_01:721873007
- UMLS_CUI:C2745997
- Ontology
- Human Disease ( DOID:0060376 )
- is a type of
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- disjoint_from
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Genes Involved
Zebrafish Models