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Metadata
ID DOID:0060376
Name Joubert syndrome with orofaciodigital defect
Definition A Joubert syndrome that is characterized by orofaciodigital defect.
https://www.ncbi.nlm.nih.gov/pubmed/23716954
Xrefs

GARD:4412

MESH:C536531

NCI:C124841

OMIM:277170

ORDO:2754

SNOMEDCT_US_2019_09_01:721873007

UMLS_CUI:C2745997

Subsets

DO_rare_slim

NCIthesaurus

Synonyms

OFD6 [EXACT]

orofaciodigital syndrome VI [EXACT]

Polydactyly cleft lip palate psychomotor retardation [EXACT]

Varadi syndrome [EXACT]

Varadi-Papp syndrome [EXACT]

Parent Relationships

is_a Joubert syndrome

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