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orofaciodigital syndrome type 6

^ 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. [ Orphanet:2754 ]

Term info

database cross reference
  • UMLS:C2745997 (Orphanet:2754/e)
  • OMIM:277170 (Orphanet:2754/e)
  • Orphanet:2754 (OMIM:277170)
  • SCTID:721873007 (MONDO:equivalentTo)
  • NCIT:C124841 (MONDO:equivalentTo)
  • MESH:C536531 (MONDO:equivalentTo)
  • DOID:0060376 (MONDO:equivalentTo)
  • GARD:0004412 (MONDO:equivalentTo)
Subsets

gard_rare, ordo_disease

abbreviation
OFD6 [ Orphanet:2754 DOID:0060376 ]

IAO 0000233

https://github.com/monarch-initiative/mondo/issues/5588

definition

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.

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

excluded subClassOf

http://purl.obolibrary.org/obo/MONDO_0000508

has exact synonym

Joubert syndrome with orofaciodigital defect, orofaciodigital syndrome VI, Joubert syndrome with oral-facial-digital syndrome, polydactyly-cleft lip/palate-psychomotor retardation syndrome, Varadi-Papp syndrome, OFD6, Varadi syndrome, oral-facial-digital syndrome type 6, orofaciodigital syndrome type 6

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

seeAlso

https://rarediseases.info.nih.gov/diseases/4412/polydactyly-cleft-lip-palate-psychomotor-retardation