Terminology Service for NFDI4Health
orofaciodigital syndrome type 6
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http://purl.obolibrary.org/obo/MONDO_0010176
Joubert syndrome with orofaciodigital defect (or oral-facial-digital syndrome type 6, OFD6) is a very rare subtype of Joubert syndrome and related disorders (JSRD) characterized by the neurological features of JS associated with orofacial anomalies and often polydactyly. [ ]
Term info
Label
orofaciodigital syndrome type 6
Synonyms
- Joubert syndrome with oral-facial-digital syndrome
- Joubert syndrome with orofaciodigital defect
- OFD6
- Varadi syndrome
- Varadi-Papp syndrome
- oral-facial-digital syndrome type 6
- orofaciodigital syndrome VI
- orofaciodigital syndrome type 6
- polydactyly-cleft lip/palate-psychomotor retardation syndrome
Subsets
gard_rare, ordo_disease
exactMatch
http://identifiers.org/snomedct/721873007, http://purl.obolibrary.org/obo/NCIT_C124841, http://purl.obolibrary.org/obo/Orphanet_2754, http://linkedlifedata.com/resource/umls/id/C2745997, http://purl.obolibrary.org/obo/DOID_0060376, http://identifiers.org/mesh/C536531, https://omim.org/entry/277170
has related synonym
orofaciodigital syndrome 6, polydactyly cleft lip palate psychomotor retardation, Váradi syndrome, Ofds 6, Váradi-Papp syndrome, polydactyly, cleft Lip/palate or lingual lump, and psychomotor retardation, oral-Facial-digital syndrome, type 6, polydactyly - cleft lip/palate - psychomotor retardation
id
MONDO:0010176
narrowMatch
https://icd.codes/icd10cm/Q04.3
see also
https://rarediseases.info.nih.gov/diseases/4412/polydactyly-cleft-lip-palate-psychomotor-retardation