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: 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 Varadi syndrome OFD6 oral-facial-digital syndrome type 6 orofaciodigital syndrome type 6
Term information
- MEDGEN:411200 (MONDO:equivalentTo)
- GARD:4412 (MONDO:GARD)
- MESH:C536531 (MONDO:equivalentTo)
- Orphanet:2754 (OMIM:277170)
- NCIT:C124841 (MONDO:equivalentTo)
- DOID:0060376 (MONDO:equivalentTo)
- UMLS:C2745997 (MONDO:equivalentTo)
- OMIM:277170 (Orphanet:2754/e)
- SCTID:721873007 (MONDO:equivalentTo)
matrix_llm__is_cancer_other, ordo_disorder, gard_rare, mondo_top_grouping_member, matrix_llm__txgnn_other, matrix_included, nord_rare, rare, harrisons_view_musculoskeletal_system_disorder, orphanet_rare, harrisons_view_nervous_system_disorder, mondo_top_grouping_syndromic_disease, matrix_llm__is_glucose_dysfunction_other, mondo_subtype, otar, matrix_llm__tag_qualy_lost_other, harrisons_view_disorder_of_development_or_morphogenesis, matrix_llm__medical_specialization_other, mondo_top_grouping_hereditary_disease, mondo_top_grouping_musculoskeletal_system_disorder, matrix_llm__tag_existing_treatment_other, matrix_txgnn_grouping_other, matrix_llm__anatomical_other, matrix_llm__is_pathogen_caused_other, harrisons_view_member, mondo_top_grouping_nervous_system_disorder, harrisons_view_syndromic_disease, harrisons_view_hereditary_disease, mondo_top_grouping_disorder_of_development_or_morphogenesis
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
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
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
https://rarediseases.info.nih.gov/diseases/4412/polydactyly-cleft-lip-palate-psychomotor-retardation