JSON

orofaciodigital syndrome type 6

Go to external page 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 ]

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

This is just here as a test because I lose it

Term information

database cross reference
  • SCTID:721873007 (MONDO:equivalentTo)
  • DOID:0060376 (MONDO:equivalentTo)
  • UMLS:C2745997 (MONDO:equivalentTo)
  • NCIT:C124841 (MONDO:equivalentTo)
  • OMIM:277170 (Orphanet:2754/e)
  • Orphanet:2754 (OMIM:277170)
  • GARD:4412 (MONDO:GARD)
  • MEDGEN:411200 (MONDO:equivalentTo)
  • MESH:C536531 (MONDO:equivalentTo)
Subsets

ordo_disorder, gard_rare, otar, rare, nord_rare, orphanet_rare

abbreviation
OFD6 [ DOID:0060376 Orphanet:2754 ]

exactMatch

http://identifiers.org/snomedct/721873007

http://purl.obolibrary.org/obo/NCIT_C124841

http://identifiers.org/medgen/411200

http://linkedlifedata.com/resource/umls/id/C2745997

http://www.orpha.net/ORDO/Orphanet_2754

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

excluded from qc check

http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql

http://purl.obolibrary.org/obo/mondo/sparql/qc/mondo/qc-omim-subsumption.sparql

has related synonym

orofaciodigital syndrome 6

polydactyly cleft lip palate psychomotor retardation

Váradi syndrome

Ofds 6

Váradi-Papp syndrome

oral-Facial-digital syndrome, type 6

polydactyly, cleft Lip/palate or lingual lump, and psychomotor retardation

polydactyly - cleft lip/palate - psychomotor retardation

id

MONDO:0010176

seeAlso

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

term tracker item

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