{ "id": 16229, "label": "orofaciodigital syndrome", "model": { "label": "Mondo Disease Ontology (MONDO)", "source": 0 }, "type_id": 0, "reference_id": "MONDO:0015375", "properties": { "xrefs": [ "DOID:4501", "GARD:0010692", "ICD9:759.89", "MEDGEN:14518", "MESH:D009958", "NANDO:1201051", "NORD:1529", "OMIMPS:311200", "Orphanet:140997", "SCTID:52868006", "UMLS:C0029294", "icd11.foundation:1405407847" ], "synonyms": [ "OFD", "Oral-Facial-Digital Syndrome", "oral-facial-digital syndrome", "orofaciodigital syndrome", "oral facial digital syndromes", "oral-facial-digital syndromes", "orofaciodigital syndromes" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "Two syndromes of oral, facial, and digital malformations. Type I (Papillon-Leage and Psaume syndrome, Gorlin-Psaume syndrome) is inherited as an X-linked dominant trait and is found only in females and XXY males. Type II (Mohr syndrome) is inherited as an autosomal recessive trait." }, "isLeaf": false, "isRoot": false, "child_count": 19, "parents": [ { "id": 5714, "label": "hereditary disease", "isLeaf": false, "isRoot": false, "parents": [ 29382 ], "type_id": 0, "properties": { "xrefs": [ "DOID:630", "EFO:0000508", "ICD9:799.89", "MEDGEN:5527", "MESH:D030342", "NCIT:C3101", "SCTID:32895009", "UMLS:C0019247" ], "synonyms": [ "genetic condition", "genetic disease", "genetic disorder", "hereditary disease", "hereditary disease or disorder", "hereditary diseases", "inherited disease", "inherited genetic disease", "molecular disease", "Mendelian disease", "familial disorder", "inborn disorder" ], "definition": "A disease that is caused by genetic modifications where those modifications are inherited from a parent's genome." }, "child_count": 1925, "reference_id": "MONDO:0003847" }, { "id": 16328, "label": "oromandibular-limb anomalies syndrome", "isLeaf": false, "isRoot": false, "parents": [ 4370, 18362 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0019996", "MEDGEN:1842880", "Orphanet:156215", "UMLS:C5680663", "icd11.foundation:1868700139" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0002254", "name": "syndromic disease" } ] }, "child_count": 4, "reference_id": "MONDO:0015498" } ], "children": [ { "id": 9449, "label": "orofaciodigital syndrome X", "isLeaf": true, "isRoot": false, "parents": [ 16229 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0060380", "GARD:0004061", "MEDGEN:322280", "MESH:C563491", "OMIM:165590", "Orphanet:2756", "SCTID:722075004", "UMLS:C1833796" ], "synonyms": [ "Figuera syndrome", "OFD10", "oral-facial-digital syndrome type 10", "orofaciodigital syndrome X", "orofaciodigital syndrome type 10", "orofaciodigital syndrome type X", "orofaciodigital syndrome with fibular aplasia", "OFD syndrome 10", "Ofds 10", "oral facial digital syndrome 10", "oral facial digital syndrome type 10", "oral-Facial-digital syndrome with fibular aplasia", "oral-Facial-digital syndrome, type 10", "oral-facial-digital syndrome 10", "orofaciodigital syndrome 10", "orofaciodigital syndrome type Figuera" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "Oral-facial-digital syndrome, type 10 is characterized by facial (telecanthus, flat nasal bridge, retrognathia), oral (cleft palate, vestibular frenula) and digital (oligodactyly, preaxial polydactyly) features, associated with remarkable radial shortening, fibular agenesis and coalescence of tarsal bones. The syndrome has been described in one 10-month-old girl. No new cases have been described since 1993." }, "child_count": 0, "reference_id": "MONDO:0008137" }, { "id": 9574, "label": "orofaciodigital syndrome V", "isLeaf": true, "isRoot": false, "parents": [ 16229 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0060375", "GARD:0004120", "MEDGEN:358131", "MESH:C557819", "OMIM:174300", "Orphanet:2919", "SCTID:722105002", "UMLS:C1868118" ], "synonyms": [ "OFD5", "Thurston syndrome", "oral-facial-digital syndrome type 5", "orofaciodigital syndrome V", "orofaciodigital syndrome type 5", "orofaciodigital syndrome type V", "orofaciodigital syndrome, Thurston type", "polydactyly postaxial with median cleft of upper lip", "OFD syndrome 5", "Ofds 5", "oral facial digital syndrome 5", "oral facial digital syndrome type 5", "oral-Facial-digital syndrome, type 5", "oral-facial-digital syndrome 5", "orofaciodigital syndrome 5", "polydactyly, postaxial, with Median cleft of upper lip" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "Oral-facial-digital syndrome, type 5 is characterized by median cleft of the upper lip, postaxial polydactyly of hands and feet, and oral manifestations (duplicated frenulum)." }, "child_count": 0, "reference_id": "MONDO:0008267" }, { "id": 10858, "label": "orofaciodigital syndrome type II", "isLeaf": true, "isRoot": false, "parents": [ 16229, 19471 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0060959", "GARD:0003701", "ICD9:759.89", "MEDGEN:10077", "OMIM:252100", "Orphanet:2751", "SCTID:1779005", "UMLS:C0026363" ], "synonyms": [ "MOHR syndrome", "Mohr syndrome", "OFD2", "oral-facial-digital syndrome type 2", "OFD syndrome 2", "Ofds 2", "oral facial digital syndrome 2", "oral facial digital syndrome type 2", "oral-Facial-digital syndrome, type 2", "orofaciodigital syndrome 2", "orofaciodigital syndrome II", "orofaciodigital syndrome type 2" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "Oral-facial-digital (OFD) type 2 is characterized by hand and feet deformities, facial deformities, midline cleft of the upper lip and tongue hamartomas." }, "child_count": 0, "reference_id": "MONDO:0009642" }, { "id": 11003, "label": "orofaciodigital syndrome III", "isLeaf": true, "isRoot": false, "parents": [ 16229 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0060373", "GARD:0010518", "MEDGEN:96069", "MESH:C557817", "OMIM:258850", "Orphanet:2752", "SCTID:239030004", "UMLS:C0406726" ], "synonyms": [ "OFD3", "Sugarman syndrome", "oral-facial-digital syndrome type 3", "orofaciodigital syndrome III", "orofaciodigital syndrome type III", "OFD syndrome 3", "Ofds 3", "oral facial digital syndrome 3", "oral facial digital syndrome type 3", "oral-Facial-digital syndrome, type 3", "orofaciodigital syndrome 3", "orofaciodigital syndrome type 3" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "Oral-facial-digital syndrome, type 3 is characterized by anomalies of the mouth, eyes and digits, associated with severe intellectual deficit." }, "child_count": 0, "reference_id": "MONDO:0009793" }, { "id": 11004, "label": "orofaciodigital syndrome IV", "isLeaf": true, "isRoot": false, "parents": [ 16229, 16618, 19471 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0060374", "GARD:0000816", "MEDGEN:98358", "MESH:C537133", "OMIM:258860", "Orphanet:2753", "SCTID:239031000", "UMLS:C0406727" ], "synonyms": [ "Baraitser-Burn syndrome", "Mohr-Majewski syndrome", "OFD4", "oral-facial-digital syndrome type 4", "orofaciodigital syndrome IV", "orofaciodigital syndrome type 4", "orofaciodigital syndrome type IV", "OFD syndrome 4", "Ofd syndrome with tibial defects", "Ofd syndrome, Baraitser-Burn type", "Ofds 4", "oral facial digital syndrome 4", "oral facial digital syndrome type 4", "oral-Facial-digital syndrome, type 4", "orofaciodigital syndrome 4", "orofaciodigital syndrome with tibial dysplasia" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0005087", "name": "respiratory system disorder" } ], "definition": "Oral-facial-digital syndrome, type 4 is characterized by lingual hamartoma, postaxial polysyndactyly of hands and feet, and mesomelic shortening of the legs with supinate equinovarus feet." }, "child_count": 0, "reference_id": "MONDO:0009794" }, { "id": 11005, "label": "orofaciodigital syndrome IX", "isLeaf": true, "isRoot": false, "parents": [ 16229 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0060382", "GARD:0010520", "MEDGEN:162908", "MESH:C557818", "OMIM:258865", "Orphanet:141007", "SCTID:718680001", "UMLS:C0796102" ], "synonyms": [ "OFD9", "oral-facial-digital syndrome type 9", "oral-facial-digital syndrome with retinal abnormalities", "orofaciodigital syndrome IX", "orofaciodigital syndrome type IX", "orofaciodigital syndrome with retinal abnormalities", "OFD syndrome 9", "Ofds 9", "oral facial digital syndrome 9", "oral facial digital syndrome type 9", "oral-Facial-digital syndrome with retinal abnormalities", "oral-Facial-digital syndrome, type 9", "orofaciodigital syndrome 9", "orofaciodigital syndrome type 9" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "Oral-facial-digital syndrome, type 9 is characterized by highly arched palate with bifid tongue and bilateral supernumerary lower canines, hamartomatous tongue, multiple frenula, hypertelorism, telecanthus, strabismus, broad and/or bifid nasal tip, short stature, bifid halluces, forked metatarsal, poly- and syndactyly, mild intellectual deficit and specific retinal abnormalities (bilateral optic disk coloboma and retinal dysplasia with partial detachment)." }, "child_count": 0, "reference_id": "MONDO:0009795" }, { "id": 11358, "label": "orofaciodigital syndrome type 6", "isLeaf": true, "isRoot": false, "parents": [ 14838, 16229, 19709, 24270 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0060376", "GARD:0004412", "MEDGEN:411200", "MESH:C536531", "NCIT:C124841", "OMIM:277170", "Orphanet:2754", "SCTID:721873007", "UMLS:C2745997" ], "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", "Ofds 6", "Váradi syndrome", "Váradi-Papp syndrome", "oral-Facial-digital syndrome, type 6", "orofaciodigital syndrome 6", "polydactyly - cleft lip/palate - psychomotor retardation", "polydactyly cleft lip palate psychomotor retardation", "polydactyly, cleft Lip/palate or lingual lump, and psychomotor retardation" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "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." }, "child_count": 0, "reference_id": "MONDO:0010176" }, { "id": 11505, "label": "orofaciodigital syndrome VIII", "isLeaf": true, "isRoot": false, "parents": [ 16229 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0060378", "GARD:0004060", "MEDGEN:208667", "MESH:C557820", "OMIM:300484", "Orphanet:2755", "SCTID:722106001", "UMLS:C0796101" ], "synonyms": [ "OFD8", "oral-facial-digital syndrome type 8", "oral-facial-digital syndrome, Edwards type", "orofaciodigital syndrome VIII", "orofaciodigital syndrome VIII, X-linked recessive", "orofaciodigital syndrome type VIII", "orofaciodigital syndrome, Edwards type", "OFD syndrome 8", "Ofds 8", "oral facial digital syndrome 8", "oral facial digital syndrome type 8", "oral-Facial-digital syndrome with hypoplastic Epiglottis", "oral-Facial-digital syndrome, type 8", "orofaciodigital syndrome 8", "orofaciodigital syndrome type 8" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "Oral-facial-digital syndrome, type 8 is characterized by tongue lobulation, hypoplasia of the epiglottis, median cleft upper lip, broad or bifid nasal tip, hypertelorism or telecanthus, bilateral preaxial and postaxial polydactyly, abnormal tibiae and/or radii, duplication of the halluces, short stature, and mild intellectual deficit." }, "child_count": 0, "reference_id": "MONDO:0010336" }, { "id": 13117, "label": "orofaciodigital syndrome VII", "isLeaf": true, "isRoot": false, "parents": [ 16229 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0060377", "GARD:0024839", "MEDGEN:162907", "MESH:C563104", "OMIM:608518", "Orphanet:90649", "UMLS:C0796100" ], "synonyms": [ "OFD7", "Whelan syndrome", "orofaciodigital syndrome VII", "orofaciodigital syndrome type 7", "orofaciodigital syndrome type VII", "Ofds 7", "oral-Facial-digital syndrome, type 7", "orofaciodigital syndrome 7" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0002254", "name": "syndromic disease" } ] }, "child_count": 0, "reference_id": "MONDO:0012049" }, { "id": 14073, "label": "orofaciodigital syndrome XI", "isLeaf": true, "isRoot": false, "parents": [ 16229 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0060381", "GARD:0004118", "MEDGEN:416694", "MESH:C557821", "OMIM:612913", "Orphanet:141000", "SCTID:718681002", "UMLS:C2752048" ], "synonyms": [ "OFD11", "oral-facial-digital syndrome type 11", "oral-facial-digital syndrome, Gabrielli type", "orofaciodigital syndrome XI", "orofaciodigital syndrome type XI", "orofaciodigital syndrome, Gabrielli type", "Gabrielli syndrome", "OFD syndrome 11", "Ofds 11", "oral facial digital syndrome 11", "oral facial digital syndrome type 11", "oral-Facial-digital syndrome with skeletal anomalies", "oral-Facial-digital syndrome, type 11", "orofaciodigital syndrome 11", "orofaciodigital syndrome type 11" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "Orofaciodigital syndrome type 11 is an extremely rare, sporadic form of Orofaciodigital syndrome (OFDS) with only a few reported cases, and characterized by facial (blepharophimosis, bulbous nasal tip, broad nasal bridge, downslanting palpebral fissures and low set ears) and skeletal (post-axial polydactyly and fusion of vertebrae) malformations along with severe intellectual disability, deafness and congenital heart defects." }, "child_count": 0, "reference_id": "MONDO:0013035" }, { "id": 15415, "label": "orofaciodigital syndrome type 14", "isLeaf": true, "isRoot": false, "parents": [ 16087, 16229 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0060958", "GARD:0013655", "MEDGEN:1635470", "OMIM:615948", "Orphanet:434179", "SCTID:763837007", "UMLS:C4706604" ], "synonyms": [ "C2CD3 orofaciodigital syndrome", "OFD14", "microcephaly-cerebral malformation-orofaciodigital syndrome", "oral-facial-digital syndrome type 14", "orofaciodigital syndrome caused by mutation in C2CD3", "orofaciodigital syndrome type 14", "orofaciodigital syndrome 14", "orofaciodigital syndrome XIV" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "Orofaciodigital syndrome type 14 is a rare subtype of orofaciodigital syndrome, with autosomal recessive inheritance and C2CD3 mutations, characterized by severe microcephaly, trigonocephaly, severe intellectual disability and micropenis, in addition to oral, facial and digital malformations (gingival frenulae, lingual hamartomas, cleft/lobulated tongue, cleft palate, telecanthus, up-slanting palpebral fissures, microretrognathia, postaxial polydactyly of hands and duplication of hallux). Corpus callosum agenesis and vermis hypoplasia with molar tooth sign, on brain imaging, are also associated." }, "child_count": 0, "reference_id": "MONDO:0014413" }, { "id": 15911, "label": "orofaciodigital syndrome XV", "isLeaf": true, "isRoot": false, "parents": [ 16229 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0016197", "MEDGEN:934668", "OMIM:617127", "UMLS:C4310701" ], "synonyms": [ "OFD15", "orofaciodigital syndrome XV", "orofaciodigital syndrome type XV", "Ofds 15", "oral-Facial-digital syndrome, type 15", "orofaciodigital syndrome 15" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0002254", "name": "syndromic disease" } ] }, "child_count": 0, "reference_id": "MONDO:0014932" }, { "id": 16270, "label": "orofaciodigital syndrome type 12", "isLeaf": true, "isRoot": false, "parents": [ 16229 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0010693", "MEDGEN:420948", "MESH:C548034", "Orphanet:141327", "SCTID:763834000", "UMLS:C2932679" ], "synonyms": [ "Moran-Barroso syndrome", "OFD12", "oral-facial-digital syndrome type 12", "OFDS 12", "oral facial digital syndrome 12", "oral facial digital syndrome type 12", "oral-facial-digital syndrome 12", "orofaciodigital syndrome 12", "orofaciodigital syndrome XII" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "Orofaciodigital syndrome type 12 is a rare subtype of orofaciodigital syndrome, with sporadic occurrence, characterized by cardiac (septum hypertrophy) and central nervous system abnormalities (myelomeningocele, Sylvius aqueduct stenosis, corpus callosum agenesis, vermis hypoplasia), in addition to oral, facial and digital malformations (gingival frenulae, bifid tongue, supernumerary teeth, macrocephaly, hypertelorism, pre- and post-axial polydactyly in hands, preaxial polydactyly in feet and club feet). Skeletal anomalies, such as short tibiae and central, Y-shaped metacarpals, are also associated." }, "child_count": 0, "reference_id": "MONDO:0015421" }, { "id": 22608, "label": "orofaciodigital syndrome 16", "isLeaf": true, "isRoot": false, "parents": [ 16229 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0080254", "GARD:0025783", "MEDGEN:1620071", "OMIM:617563", "UMLS:C4539729" ], "synonyms": [ "OFD16", "Ofds 16", "oral-Facial-digital syndrome, type 16", "orofaciodigital syndrome XVI" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0002254", "name": "syndromic disease" } ] }, "child_count": 0, "reference_id": "MONDO:0033045" }, { "id": 22656, "label": "orofaciodigital syndrome 17", "isLeaf": true, "isRoot": false, "parents": [ 16229, 29327 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0080289", "GARD:0025800", "MEDGEN:1644516", "OMIM:617926", "UMLS:C4693640" ], "synonyms": [ "OFD17", "OFDS XVII", "oral-facial-digital syndrome, type XVII" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "An orofaciodigital syndrome caused by a mutation in the INTU gene." }, "child_count": 0, "reference_id": "MONDO:0033375" }, { "id": 23619, "label": "orofaciodigital syndrome 18", "isLeaf": true, "isRoot": false, "parents": [ 16229 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0060961", "GARD:0022069", "MEDGEN:1799326", "OMIM:617927", "Orphanet:508501", "UMLS:C5567903" ], "synonyms": [ "OFD18", "Ofds 18", "oral-facial-digital syndrome type 18", "oral-facial-digital syndrome with short stature and brachymesophalangy", "orofaciodigital syndrome type 18" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "Orofaciodigital syndrome 18 (OFD18) is characterized by short stature, brachymesophalangy, pre- and postaxial polysyndactyly, and stocky femoral necks, as well as oral anomalies and dysmorphic facial features." }, "child_count": 0, "reference_id": "MONDO:0054770" }, { "id": 25444, "label": "orofaciodigital syndrome 19", "isLeaf": true, "isRoot": false, "parents": [ 16229 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0060960", "GARD:0026690", "MEDGEN:1824021", "OMIM:620107", "UMLS:C5774248" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0002254", "name": "syndromic disease" } ] }, "child_count": 0, "reference_id": "MONDO:0859310" }, { "id": 25884, "label": "orofaciodigital syndrome 20", "isLeaf": true, "isRoot": false, "parents": [ 16229 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0060962", "GARD:0026978", "MEDGEN:1854813", "OMIM:620718", "UMLS:C5935578" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0002254", "name": "syndromic disease" } ] }, "child_count": 0, "reference_id": "MONDO:0958230" }, { "id": 26118, "label": "orofaciodigital syndrome 21", "isLeaf": true, "isRoot": false, "parents": [ 16229 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0027324", "MEDGEN:1874405", "OMIM:301132", "UMLS:C5974875" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0002254", "name": "syndromic disease" } ] }, "child_count": 0, "reference_id": "MONDO:0975827" } ], "roots": [ { "id": 5714, "label": "hereditary disease" }, { "id": 16328, "label": "oromandibular-limb anomalies syndrome" } ] }