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bn:03965794n
Noun Named Entity
EN
Joubert syndrome with orofaciodigital defect  Joubert syndrome with oral-facial-digital syndrome  OFD6  Ofds 6  Oral-Facial-Digital Syndrome, Type 6
EN
A Joubert syndrome subtype with orofaciodigital defect. Wikidata
Definitions
Relations
Sources
EN
A Joubert syndrome subtype with orofaciodigital defect. Wikidata
IS A
disease
rare disease
Joubert syndrome
oral-facial-digital syndrome
GENETIC ASSOCIATION
OFD1
PDE6D
CPLANE1
TCTN3
KIAA0753
Wikidata
EN
Joubert syndrome with orofaciodigital defect
Wikidata Alias
EN
Joubert syndrome with oral-facial-digital syndrome, OFD6, Ofds 6, Oral-Facial-Digital Syndrome, Type 6, Oral-facial-digital syndrome type 6, Orofaciodigital syndrome type 6, orofaciodigital syndrome VI, OROFACIODIGITAL SYNDROME VI; OFD6, Polydactyly, Cleft Lip/Palate or Lingual Lump, and Psychomotor Retardation, Polydactyly-cleft lip/palate-psychomotor retardation syndrome, Polydactyly - cleft lip/palate - psychomotor retardation, Polydactyly cleft lip palate psychomotor retardation, Varadi-Papp syndrome, Varadi syndrome, Váradi-Papp syndrome, Váradi syndrome

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