{ "id": 16087, "label": "multiple congenital anomalies/dysmorphic syndrome-intellectual disability", "model": { "label": "Mondo Disease Ontology (MONDO)", "source": 0 }, "type_id": 0, "reference_id": "MONDO:0015159", "properties": { "xrefs": [ "GARD:0019832", "MEDGEN:1826158", "Orphanet:102283", "UMLS:C5680372" ], "synonyms": [ "MCA/MR", "multiple congenital anomalies-intellectual disability with or without dysmorphism", "multiple congenital anomalies/dysmorphic syndrome-intellectual disability" ] }, "isLeaf": false, "isRoot": false, "child_count": 338, "parents": [ { "id": 18951, "label": "multiple congenital anomalies/dysmorphic syndrome", "isLeaf": false, "isRoot": false, "parents": [ 19507 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0018876", "MEDGEN:1843247", "Orphanet:68341", "UMLS:C5681310" ], "synonyms": [ "MCAHS" ] }, "child_count": 5, "reference_id": "MONDO:0019042" } ], "children": [ { "id": 2759, "label": "Neu-Laxova syndrome", "isLeaf": false, "isRoot": false, "parents": [ 4198, 4370, 16080, 16087, 16198, 18528 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0000102", "ICD9:759.89", "MEDGEN:78537", "MESH:C536405", "OMIMPS:256520", "Orphanet:2671", "SCTID:77817004", "UMLS:C0265218", "icd11.foundation:893358230" ], "synonyms": [ "NLS", "Neu Laxova syndrome" ], "categories": [ { "ref": "MONDO:0002051", "name": "integumentary system disorder" }, { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "Neu-Laxova syndrome (NLS) is a rare, multiple malformation syndrome characterized by severe intrauterine growth retardation (IUGR), severe microcephaly with a sloping forehead, severe ichthyosis (collodion baby type), and facial dysmorphism." }, "child_count": 18, "reference_id": "MONDO:0000179" }, { "id": 8464, "label": "acrofacial dysostosis, Catania type", "isLeaf": true, "isRoot": false, "parents": [ 16087, 18363 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0060384", "GARD:0000494", "MEDGEN:419487", "MESH:C538182", "OMIM:101805", "Orphanet:1786", "SCTID:720419000", "UMLS:C2931762", "icd11.foundation:750680130" ], "synonyms": [ "Opitz-Caltabiano syndrome", "acrofacial dysostosis, Catania type", "AFD Catania type", "Afd, Catania type", "acrofacial dysostosis Catania type" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" } ], "definition": "Acrofacialdysostosis, Catania type is a very rare type of acrofacialdysostosis characterized by mild intrauterine growth retardation (IUGR), postnatal short stature, microcephaly, widow's peak, mandibulofacial dysostosis without cleft palate, frequent caries, mild pre- and postaxial limb hypoplasia with brachydactyly, mild interdigital webbing, simian creases, inguinal hernia and cryptorchidism and hypospadias in males." }, "child_count": 0, "reference_id": "MONDO:0007045" }, { "id": 8552, "label": "aortic arch anomaly-facial dysmorphism-intellectual disability syndrome", "isLeaf": true, "isRoot": false, "parents": [ 16087 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0000739", "MEDGEN:350734", "MESH:C537785", "OMIM:107500", "Orphanet:1110", "UMLS:C1862682" ], "synonyms": [ "aortic arch anomaly - peculiar facies - intellectual disability", "aortic arch anomaly with peculiar facies and intellectual disability", "aortic arch anomaly with peculiar facies and mental retardation", "aortic arch anomaly-peculiar facies-intellectual disability syndrome", "familial syndrome of right-sided aortic arch, mental deficiency, and facial dysmorphism" ], "definition": "Aortic arch anomaly-peculiar facies-intellectual disability syndrome is a developmental anomaly characterized at birth by the presence of right-sided aortic arch, craniofacial dysmorphism (microcephaly, asymmetric, facial bones, broad forehead, borderline hypertelorism, nasal septum deviation, large nasal cavity, large, posteriorly rotated ears, and microstomia with downturned corners), and intellectual disability. These features were observed in 4 members of one family, involving 2 successive generations, suggesting an autosomal dominant mode of transmission. There have been no further descriptions in the literature since 1968." }, "child_count": 0, "reference_id": "MONDO:0007143" }, { "id": 8605, "label": "blepharonasofacial malformation syndrome", "isLeaf": true, "isRoot": false, "parents": [ 16087 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0004238", "MEDGEN:163226", "MESH:C536303", "OMIM:110050", "Orphanet:1252", "SCTID:717913006", "UMLS:C0796197" ], "synonyms": [ "Pashayan syndrome", "Pashayan-Prozansky syndrome", "blepharonasofacial malformation syndrome" ], "definition": "Blepharonasofacial syndrome is a rare otorhinolaryngological malformation syndrome characterized by a distinctive mask-like facial dysmorphism, lacrimal duct obstruction, extrapyramidal features, digital malformations and intellectual disability." }, "child_count": 0, "reference_id": "MONDO:0007200" }, { "id": 8631, "label": "brachydactyly-nystagmus-cerebellar ataxia syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370, 16087 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0000971", "ICD9:759.89", "MEDGEN:350589", "MESH:C566192", "OMIM:113400", "Orphanet:1246", "SCTID:205828009", "UMLS:C1862099" ], "synonyms": [ "Biemond syndrome", "Biemond syndrome type 1", "brachydactyly - nystagmus - cerebellar ataxia", "brachydactyly, nystagmus and cerebellar ataxia", "brachydactyly-NYSTAGMUS-cerebellar ataxia" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "Brachydactyly-nystagmus-cerebellar ataxia syndrome is characterized by brachydactyly, nystagmus and cerebellar ataxia. Intellectual deficit and strabismus are also reported in some patients." }, "child_count": 0, "reference_id": "MONDO:0007226" }, { "id": 8663, "label": "craniofaciofrontodigital syndrome", "isLeaf": true, "isRoot": false, "parents": [ 16087, 23977 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0017571", "MEDGEN:393947", "MESH:C567298", "OMIM:114620", "Orphanet:363705", "SCTID:763320005", "UMLS:C2676032" ], "synonyms": [ "Cantu craniofaciofrontodigital syndrome", "craniofaciofrontodigital syndrome" ], "categories": [ { "ref": "MONDO:0002051", "name": "integumentary system disorder" } ], "definition": "Craniofaciofrontodigital is a rare multiple congenital anomalies syndrome characterized by mild intellectual disability, short stature, cardiac anomalies, mild dysmorphic features (macrocephaly, prominent forehead, hypertelorism, exophthalmos), cutis laxa, joint hyperlaxity, wrinkled palms and soles and skeletal anomalies (sella turcica, wide ribs and small vertebral bodies)." }, "child_count": 0, "reference_id": "MONDO:0007259" }, { "id": 8748, "label": "uveal coloboma-cleft lip and palate-intellectual disability", "isLeaf": true, "isRoot": false, "parents": [ 5714, 16087 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0111249", "GARD:0001440", "MEDGEN:811762", "MESH:C535971", "OMIM:120433", "Orphanet:1473", "UMLS:C3805432" ], "synonyms": [ "uveal coloboma-cleft lip and palate-intellectual disability", "COB1", "coloboma, cleft lip/palate and intellectual disability syndrome", "coloboma, cleft lip/palate and mental retardation syndrome", "coloboma, ocular, with or without hearing impairment, cleft lip/palate, and/or intellectual disability", "coloboma, ocular, with or without hearing impairment, cleft lip/palate, and/or mental retardation", "coloboma-microphthalmos syndrome", "coloboma-microphthalmos syndrome associated with sensorineural hearing loss, hematuria, and cleft lip/palate", "uveal coloboma-cleft lip/palate-intellectual disability syndrome", "uveal coloboma-cleft lip/palate-mental retardation syndrome" ], "definition": "Uveal coloboma-cleft lip and palate-intellectual disability is characterized by coloboma of the iris, bilateral cleft lip and palate, and intellectual deficiency of varying degree. A wide variability in clinical expression is observed. Some patients also present with microphthalmia, cataract, glaucoma, ptosis, sensorineural hearing loss and haematuria. To date, 12 cases have been described from three generations of a single family. Transmission is autosomal dominant." }, "child_count": 0, "reference_id": "MONDO:0007355" }, { "id": 8775, "label": "Ramos-Arroyo syndrome", "isLeaf": true, "isRoot": false, "parents": [ 16087 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0004636", "MEDGEN:418932", "MESH:C535286", "OMIM:122430", "Orphanet:1051", "UMLS:C2930866" ], "synonyms": [ "Ramos-Arroyo syndrome", "corneal anesthesia-deafness-intellectual disability syndrome", "Ramos Arroyo Clark syndrome", "congenital corneal anaesthesia with retinal abnormalities, deafness, unusual facies, persistent ductus arteriosus, and intellectual disability", "congenital corneal anaesthesia with retinal abnormalities, deafness, unusual facies, persistent ductus arteriosus, and mental retardation", "congenital corneal anesthesia with retinal abnormalities, deafness, unusual facies, persistent ductus arteriosus, and intellectual disability", "congenital corneal anesthesia with retinal abnormalities, deafness, unusual facies, persistent ductus arteriosus, and mental retardation", "corneal hypesthesia with retinal abnormalities, sensorineural deafness, unusual facies, persistent ductus arteriosus, and intellectual disability", "corneal hypesthesia with retinal abnormalities, sensorineural deafness, unusual facies, persistent ductus arteriosus, and mental retardation" ], "definition": "Ramos-Arroyo syndrome (RAS) is a very rare genetic disorder characterized by corneal anesthesia, retinal abnormalities, bilateral hearing loss, distinct facies, patent ductus arteriosus, Hirschsprung disease, short stature, and intellectual disability." }, "child_count": 0, "reference_id": "MONDO:0007382" }, { "id": 8960, "label": "extrasystoles-short stature-hyperpigmentation-microcephaly syndrome", "isLeaf": true, "isRoot": false, "parents": [ 16087, 19140 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0002213", "MEDGEN:343564", "MESH:C565032", "OMIM:133750", "Orphanet:1964", "UMLS:C1851412" ], "synonyms": [ "Char-Douglas-Dungan syndrome", "extrasystoles, multiform ventricular, with short stature, hyperpigmentation and microcephaly" ], "categories": [ { "ref": "MONDO:0002051", "name": "integumentary system disorder" } ], "definition": "Extrasystoles-short stature-hyperpigmentation-microcephaly syndrome is a rare, genetic, malformation syndrome with short stature characterized by microcephaly, borderline intellectual disability, hyperpigmentation of the skin, short stature, and ventricular extrasystoles. Cardiac syncope may also be associated. There have been no further descriptions in the literature since 1975." }, "child_count": 0, "reference_id": "MONDO:0007588" }, { "id": 8987, "label": "Floating-Harbor syndrome", "isLeaf": true, "isRoot": false, "parents": [ 5714, 16087 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0111358", "GARD:0006455", "ICD9:759.89", "MEDGEN:152667", "MESH:C537062", "NCIT:C175241", "NORD:1151", "OMIM:136140", "Orphanet:2044", "SCTID:312214005", "UMLS:C0729582", "icd11.foundation:2101730645" ], "synonyms": [ "Floating Harbor Syndrome", "floating-HARBOR syndrome", "floating-Harbor syndrome", "FHS", "FLHS", "Pelletier-Leisti syndrome", "short stature with delayed bone age, expressive language delay, a triangular face with a prominent nose and deep-set eyes" ], "definition": "Floating-Harbor syndrome is a genetic developmental disorder characterized by facial dysmorphism, short stature with delayed bone age, and expressive language delay." }, "child_count": 0, "reference_id": "MONDO:0007621" }, { "id": 9044, "label": "Myhre syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4427, 16087, 19473, 24323 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0002572", "ICD9:759.89", "MEDGEN:167103", "MESH:C537620", "NCIT:C123815", "NORD:1481", "OMIM:139210", "Orphanet:2588", "SCTID:699316006", "UMLS:C0796081" ], "synonyms": [ "Myhre syndrome", "facial dysmorphism-intellectual disability-short stature-hearing loss syndrome", "Growth mental deficiency syndrome of Myhre", "Growth-mental deficiency syndrome of Myhre", "LAPS syndrome", "MYHRE syndrome", "MYHRS", "facial dysmorphism - intellectual deficit - short stature - hearing loss", "laryngotracheal stenosis, arthropathy, prognathism, and short stature" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "Myhre syndrome is characterized by striking muscular build, short stature, reduced joint mobility, brachydactyly, mixed hearing loss and mental retardation of variable severity. Facial dysmorphism with short palpebral fissures, short philtrum, thin lips, maxillary hypoplasia and prognathism is present. Thick skin has been observed in six patients." }, "child_count": 0, "reference_id": "MONDO:0007688" }, { "id": 9077, "label": "hirsutism-skeletal dysplasia-intellectual disability syndrome", "isLeaf": true, "isRoot": false, "parents": [ 16087 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0005566", "MEDGEN:163202", "MESH:C536705", "OMIM:142625", "Orphanet:2156", "UMLS:C0795976" ], "synonyms": [ "Wiedemann-Oldigs-Oppermann syndrome", "Wiedemann Oldigs Oppermann syndrome", "hirsutism skeletal dysplasia intellectual disability syndrome", "hirsutism skeletal dysplasia mental retardation syndrome", "hirsutism, skeletal dysplasia, and intellectual disability", "hirsutism, skeletal dysplasia, and mental retardation" ] }, "child_count": 0, "reference_id": "MONDO:0007724" }, { "id": 9173, "label": "Johnson neuroectodermal syndrome", "isLeaf": true, "isRoot": false, "parents": [ 16087, 19138 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0000378", "MEDGEN:167092", "MESH:C535882", "OMIM:147770", "Orphanet:2316", "SCTID:721584005", "UMLS:C0796002", "icd11.foundation:1480597785" ], "synonyms": [ "Johnson neuroectodermal syndrome", "Johnson-McMillin syndrome", "alopecia-anosmia-conductive hearing loss-hypogonadism syndrome", "alopecia-anosmia-deafness-hypogonadism syndrome", "Aadh syndrome", "alopecia anosmia deafness hypogonadism syndrome" ], "categories": [ { "ref": "MONDO:0002051", "name": "integumentary system disorder" }, { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "Johnson neuroectodermal syndrome is characterized by alopecia, anosmia or hyposmia, conductive deafness with malformed ears and microtia and/or atresia of the external auditory canal, and hypogonadotropic hypogonadism." }, "child_count": 0, "reference_id": "MONDO:0007837" }, { "id": 9182, "label": "KBG syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4427, 16087, 24323 ], "type_id": 0, "properties": { "xrefs": [ "DOID:14780", "GARD:0000082", "ICD9:759.89", "MEDGEN:66317", "MESH:C537015", "NORD:1322", "OMIM:148050", "Orphanet:2332", "SCTID:711156009", "UMLS:C0220687", "icd11.foundation:465550090" ], "synonyms": [ "KBG syndrome", "short stature-facial and skeletal anomalies-intellectual disability-macrodontia syndrome", "KBGS", "macrodontia, intellectual disability, characteristic facies, short stature, and skeletal anomalies", "macrodontia, mental retardation, characteristic facies, short stature, and skeletal anomalies", "short stature, characteristic facies, macrodontia, intellectual disability, and skeletal anomalies", "short stature, characteristic facies, macrodontia, mental retardation, and skeletal anomalies" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "KBG syndrome is a rare condition characterized by a typical facial dysmorphism, macrodontia of the upper central incisors, skeletal (mainly costovertebral) anomalies and developmental delay." }, "child_count": 0, "reference_id": "MONDO:0007846" }, { "id": 9210, "label": "trichorhinophalangeal syndrome type II", "isLeaf": true, "isRoot": false, "parents": [ 2903, 16087, 17326, 18149 ], "type_id": 0, "properties": { "xrefs": [ "DOID:4998", "GARD:0007801", "ICD9:759.89", "MEDGEN:6009", "MESH:D015826", "MedDRA:10050638", "NCIT:C75118", "NORD:1788", "OMIM:150230", "Orphanet:502", "SCTID:41069008", "UMLS:C0023003", "icd11.foundation:315453775" ], "synonyms": [ "Langer-Giedion syndrome", "deletion 8q24.1", "monosomy 8q24.1", "trichorhinophalangeal syndrome type 2", "Giedion-Langer syndrome", "Langer Giedion syndrome", "TRPS 2", "TRPS2", "chromosome 8Q24.1 deletion syndrome", "trichorhinophalangeal syndrome, type 2", "trichorhinophalangeal syndrome, type II" ], "categories": [ { "ref": "MONDO:0002051", "name": "integumentary system disorder" }, { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "Langer-Giedon syndrome, also known as trichorhinophalangeal syndrome type 2, is a very rare, genetic, multiple congenital anomaly disorder characterized by bone abnormalities, distinctive facial features, multiple exostoses, and intellectual disability." }, "child_count": 0, "reference_id": "MONDO:0007874" }, { "id": 9227, "label": "Lenz-Majewski hyperostotic dwarfism", "isLeaf": true, "isRoot": false, "parents": [ 4370, 16087, 18360 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0111507", "GARD:0003223", "MEDGEN:98483", "MESH:C537115", "OMIM:151050", "Orphanet:2658", "UMLS:C0432269", "icd11.foundation:1509425242" ], "synonyms": [ "Lenz-Majewski hyperostotic dwarfism", "LMHD", "Lenz Majewski hyperostotic dwarfism", "Lenz-Majewski hyperostotic dysplasia", "Lenz-Majewski syndrome", "hyperostotic dwarfism Lenz-Majewski type", "multiple congenital anomalies, intellectual disability and progressive skeletal sclerosis", "multiple congenital anomalies, mental retardation and progressive skeletal sclerosis" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "Lenz-Majewski hyperostotic dwarfism is an extremely rare syndrome associating dwarfism, characteristic facial appearance, cutis laxa and progressive bone sclerosis." }, "child_count": 0, "reference_id": "MONDO:0007892" }, { "id": 9257, "label": "Bannayan-Riley-Ruvalcaba syndrome", "isLeaf": true, "isRoot": false, "parents": [ 7065, 16087, 16103, 17900, 19480 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0050657", "GARD:0005887", "ICD10CM:E71.440", "ICD9:759.6", "MEDGEN:78554", "NCIT:C3939", "NORD:1684", "OMIM:153480", "Orphanet:109", "SCTID:21984008", "UMLS:C0265326", "icd11.foundation:357383447" ], "synonyms": [ "BRRS", "Bannayan syndrome", "Bannayan-Riley-Ruvalcaba syndrome", "Bannayan-Zonana syndrome", "Myhre-Riley-Smith syndrome", "RILEY-SMITH syndrome", "Ruvalcaba-MYHRE-SMITH syndrome", "macrocephaly with multiple lipomas and hemangiomas", "BZS", "RMSS", "Riley-Smith syndrome", "Ruvalcaba -Myhre-Smith syndrome", "Ruvalcaba-Myhre-Smith syndrome", "macrocephaly multiple lipomas and hemangiomata", "macrocephaly pseudopapilledema and multiple hemangiomas", "macrocephaly, multiple lipomas, and hemangiomata", "macrocephaly, pseudopapilledema, and multiple hemangiomata" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0004995", "name": "cardiovascular disorder" } ], "definition": "Bannayan-Riley-Ruvalcaba syndrome (BRRS) is a rare congenital disorder characterized by hamartomatous intestinal polyposis, lipomas, macrocephaly and genital lentiginosis." }, "child_count": 0, "reference_id": "MONDO:0007924" }, { "id": 9317, "label": "microcephaly-deafness-intellectual disability syndrome", "isLeaf": true, "isRoot": false, "parents": [ 16087 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0000230", "MEDGEN:163208", "MESH:C537326", "OMIM:156620", "Orphanet:2533", "SCTID:716112005", "UMLS:C0796062" ], "synonyms": [ "Kawashima-Tsuji syndrome", "Kawashima Tsuji syndrome", "microcephaly deafness syndrome", "microcephaly-deafness syndrome", "syndrome of microcephaly, deafness/malformed ears, intellectual disability and peculiar facies", "syndrome of microcephaly, deafness/malformed ears, mental retardation and peculiar facies" ], "definition": "Microcephaly-deafness-intellectual disability syndrome is characterized by microcephaly, deafness, intellectual deficit and facial dysmorphism (facial asymmetry, prominent glabella, low-set and cup-shaped ears, protruding lower lip, micrognathia). It has been described in a mother and her son. The mode of inheritance is probably autosomal dominant." }, "child_count": 0, "reference_id": "MONDO:0007991" }, { "id": 9442, "label": "ophthalmoplegia-intellectual disability-lingua scrotalis syndrome", "isLeaf": true, "isRoot": false, "parents": [ 16087 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0003236", "MEDGEN:318972", "MESH:C563498", "OMIM:165150", "Orphanet:2743", "UMLS:C1833835" ], "synonyms": [ "Levic-Stefanovic-Nikolic syndrome", "ophthalmoplegia-intellectual disability-lingua scrotalis syndrome", "Levic Stefanovic Nikolic syndrome", "ophthalmoplegia, progressive, with scrotal tongue and mental deficiency" ] }, "child_count": 0, "reference_id": "MONDO:0008130" }, { "id": 9720, "label": "omphalocele syndrome, Shprintzen-Goldberg type", "isLeaf": true, "isRoot": false, "parents": [ 16087 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0009850", "MEDGEN:356653", "MESH:C537329", "OMIM:182210", "Orphanet:3164", "SCTID:716230005", "UMLS:C1866958" ], "synonyms": [ "Shprintzen omphalocele syndrome", "Shprintzen-Goldberg omphalocele syndrome", "laryngeal and pharyngeal hypoplasia with omphalocele", "omphalocele with hypoplasia of pharynx and larynx, learning disability, dysmorphic facies, and scoliosis", "omphalocele, laryngeal and pharyngeal hypoplasia, learning disabilities, dysmorphic facies and spinal anomalies", "pharynx and larynx hypoplasia with omphalocele" ], "definition": "Shprintzen-Goldberg omphalocele syndrome is a very rare inherited malformation syndrome characterized by omphalocele, scoliosis, mild dysmorphic features (downslanted palpebral fissures, s-shaped eyelids and thin upper lip), laryngeal and pharyngeal hypoplasia and learning disabilities." }, "child_count": 0, "reference_id": "MONDO:0008425" }, { "id": 9721, "label": "Shprintzen-Goldberg syndrome", "isLeaf": true, "isRoot": false, "parents": [ 16087, 16201, 17630 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0004861", "MEDGEN:231160", "NCIT:C124840", "NORD:1908", "OMIM:182212", "Orphanet:2462", "SCTID:719069008", "UMLS:C1321551" ], "synonyms": [ "Marfanoid craniosynostosis syndrome", "SGS", "Shprintzen Goldberg Syndrome", "Shprintzen-Goldberg syndrome", "Marfanoid disorder with craniosynostosis type 1", "Marfanoid disorder with craniosynostosis, type 1", "Marfanoid-craniosynostosis syndrome", "Shprintzen-Goldberg craniosynostosis syndrome", "Shprintzen-Goldberg marfanoid syndrome", "craniosynostosis with arachnodactyly and abdominal hernias" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0003900", "name": "connective tissue disorder" } ], "definition": "Shprintzen-Goldberg syndrome (SGS) is a very rare genetic disorder characterized by craniosynostosis, craniofacial and skeletal abnormalities, marfanoid habitus, cardiac anomalies, neurological abnormalities, and intellectual disability." }, "child_count": 0, "reference_id": "MONDO:0008426" }, { "id": 9727, "label": "Smith-Magenis syndrome", "isLeaf": true, "isRoot": false, "parents": [ 2961, 3128, 4427, 16087, 24226 ], "type_id": 0, "properties": { "xrefs": [ "DECIPHER:8", "DOID:0060768", "GARD:0008197", "ICD9:758.33", "MEDGEN:162881", "MESH:D058496", "NANDO:1200687", "NANDO:2200954", "NCIT:C75469", "NORD:1725", "OMIM:182290", "Orphanet:819", "SCTID:401315004", "UMLS:C0795864", "icd11.foundation:989025532" ], "synonyms": [ "17p11.2 microdeletion syndrome", "SMITH-Magenis syndrome", "SMS", "Smith Magenis Syndrome", "Smith-Magenis syndrome", "Smith-Magenis syndrome, Isolated cases", "chromosome 17P11.2 deletion syndrome", "chromosome 17p11.2 deletion syndrome", "Smith-Magenis chromosome region", "Smith-Magenis syndrome chromosome region" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "Smith-Magenis syndrome (SMS) is a complex genetic disorder characterized by variable intellectual deficit, sleep disturbance, craniofacial and skeletal anomalies, psychiatric disorders, and speech and motor delay." }, "child_count": 0, "reference_id": "MONDO:0008434" }, { "id": 9738, "label": "delayed speech-facial asymmetry-strabismus-ear lobe creases syndrome", "isLeaf": true, "isRoot": false, "parents": [ 16087 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0003449", "MEDGEN:355803", "OMIM:182875", "Orphanet:3038", "SCTID:716199000", "UMLS:C1866802" ], "synonyms": [ "Mehes syndrome", "delayed speech development, facial asymmetry, strabismus, and transverse ear lobe creases", "speech development, delayed, with facial asymmetry, strabismus, and transverse earlobe CREASE" ], "definition": "This syndrome is extremely rare and is characterized by delayed speech development, mild facial asymmetry, strabismus and transverse ear lobe creases." }, "child_count": 0, "reference_id": "MONDO:0008445" }, { "id": 9779, "label": "holoprosencephaly-radial heart renal anomalies syndrome", "isLeaf": true, "isRoot": false, "parents": [ 16087 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0002727", "MEDGEN:401047", "MESH:C566655", "OMIM:184705", "Orphanet:3186", "SCTID:716233007", "UMLS:C1866649" ], "synonyms": [ "Steinfeld syndrome", "STEINFELD syndrome", "holoprosencephaly radial heart renal anomalies" ], "definition": "Holoprosencephaly-radial heart renal anomalies syndrome is characterized by holoprosencephaly, predominantly radial limb deficiency (absent thumbs, phocomelia), heart defects, kidney malformations and absence of gallbladder." }, "child_count": 0, "reference_id": "MONDO:0008488" }, { "id": 9959, "label": "Wolf-Hirschhorn syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370, 16087, 20973 ], "type_id": 0, "properties": { "xrefs": [ "DECIPHER:1", "DOID:0050460", "GARD:0007896", "MEDGEN:408255", "MESH:D054877", "MedDRA:10050361", "NANDO:1200683", "NANDO:2200962", "NCIT:C35528", "NORD:1859", "OMIM:194190", "Orphanet:280", "SCTID:718226002", "UMLS:C1956097", "icd11.foundation:1337401724" ], "synonyms": [ "4p deletion syndrome", "4p- syndrome", "Pitt syndrome", "Pitt-Rogers-Danks syndrome", "Wittwer syndrome", "Wolf-Hirschhorn syndrome", "Wolf-Hirschhorn syndrome, Isolated cases", "chromosome 4p16.3 deletion syndrome", "distal deletion 4p", "distal monosomy 4p", "telomeric deletion 4p", "4p syndrome", "WHS", "Wolf syndrome", "chromosome 4P16.3 deletion syndrome", "chromosome 4p syndrome", "microcephaly, IUGR, hypertelorism, ptosis, iris coloboma, hooked nose, external ear dysplasia, psychomotor retardation" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "Wolf-Hirschhorn syndrome (WHS) is a developmental disorder characterized by typical craniofacial features, prenatal and postnatal growth impairment, intellectual disability, severe delayed psychomotor development, seizures, and hypotonia." }, "child_count": 0, "reference_id": "MONDO:0008684" }, { "id": 9968, "label": "pseudoprogeria syndrome", "isLeaf": true, "isRoot": false, "parents": [ 16087 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0000415", "MEDGEN:163218", "MESH:C563111", "OMIM:200130", "Orphanet:2985", "SCTID:733086003", "UMLS:C0796125" ], "synonyms": [ "Hal-Berg-Rudolph syndrome", "absent eyebrows and eyelashes-intellectual disability syndrome", "eyebrows and eyelashes absence-intellectual disability syndrome", "pseudoprogeria syndrome", "absent eyebrows and eyelashes with intellectual disability", "absent eyebrows and eyelashes with mental retardation", "intellectual disability, absence of eyebrows and eyelashes, progressive spastic quadriplegia, microcephaly, glaucoma, and small, beaked nose", "mental retardation, absence of eyebrows and eyelashes, progressive spastic quadriplegia, microcephaly, glaucoma, and small, beaked nose" ], "definition": "Pseudoprogeria is characterized by intellectual deficit associated with progressive spastic quadriplegia, microcephaly, glaucoma, absence of the eyebrows and eyelashes, and a malformation of the nose. It has been described in two brothers." }, "child_count": 0, "reference_id": "MONDO:0008694" }, { "id": 9981, "label": "acrocallosal syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370, 16087, 24804, 25049 ], "type_id": 0, "properties": { "xrefs": [ "DOID:9250", "GARD:0005721", "MEDGEN:162915", "MESH:D055673", "NCIT:C84531", "OMIM:200990", "Orphanet:36", "SCTID:715951007", "UMLS:C0796147", "icd11.foundation:1286493807" ], "synonyms": [ "ACLS", "ACS", "Schinzel acrocallosal syndrome", "Schinzel syndrome 1", "acrocallosal syndrome", "Joubert syndrome 12", "Joubert syndrome 12/15, digenic", "absence of corpus callosum with unusual facial appearance, mental deficiency, duplication of the halluces and polydactyly", "acrocallosal syndrome, Schinzel type", "hallux Duplication, postaxial polydactyly, and absence of corpus callosum" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "Acrocallosal syndrome (ACS) is a polymalformative syndrome characterized by agenesis of corpus callosum (CC), distal anomalies of limbs, minor craniofacial anomalies and intellectual deficit." }, "child_count": 0, "reference_id": "MONDO:0008708" }, { "id": 9987, "label": "acrofacial dysostosis Rodriguez type", "isLeaf": true, "isRoot": false, "parents": [ 16087, 18363 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0060383", "GARD:0000496", "MEDGEN:349730", "MESH:C538183", "OMIM:201170", "Orphanet:1788", "SCTID:720430002", "UMLS:C1860119" ], "synonyms": [ "Rodriguez lethal acrofacial dysostosis syndrome", "acrofacial dysostosis syndrome of Rodriguez", "acrofacial dysostosis, Rodríguez type" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" } ], "definition": "Acrofacial dysostosis Rodriguez type is a multiple malformative syndrome in which mandibulofacial dysostosis and severe limb reduction defects are associated with complex malformations of different organs and systems especially the CNS, urogenital tract, heart, and lungs. The mandibulofacial defect, characterized by extremely severe microretrognathism and cleft palate, causes death by respiratory distress. Limb reduction is severe and includes shoulder and pelvis hypoplasia, phocomelia with humerus hypoplasia, absent radius and ulna, complete absence of long bones of the legs, and various hand anomalies, predominantly preaxial reduction (absent thumbs). Other features include CNS malformations (agenesis of corpus callosum and acqueductal stenosis), lung anomalies (absent lung lobulation), complex cardiac malformations, and unicornis uterus. These infants also show facial dysmorphism and ear anomalies. The condition is a rare with an autosomal recessive mode of inheritance. The prognosis is poor and this condition leads to death in utero or shortly after birth." }, "child_count": 0, "reference_id": "MONDO:0008714" }, { "id": 10013, "label": "agnathia-otocephaly complex", "isLeaf": true, "isRoot": false, "parents": [ 5714, 16087 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0060341", "GARD:0009126", "ICD9:759.89", "MEDGEN:78541", "NCIT:C124568", "OMIM:202650", "Orphanet:990", "SCTID:48180002", "UMLS:C0265242" ], "synonyms": [ "agnathia-holoprosencephaly-situs inversus syndrome", "agnathia-otocephaly complex", "dysgnathia complex agnathia-holoprosencephaly", "holoprosencephaly-agnathia", "otocephaly", "AGOTC", "Dysgnathia Complex agnathia-holoprosencephaly", "agnathia-holoprosencephaly" ], "definition": "Agnathia-holoprosencephaly-situs inversus syndrome is an extremely rare and fatal association syndrome, characterized by absence of the mandible, cerebral malformations with facial anomalies related to a defect in cleavage in the embryonic brain (e.g. synophthalmia, malformed and low-set ears fused in midline (otocephaly), agenesis of the olfactory bulbs, microstomia, hypoglossia/aglossia) and situs inversus partialis or totalis." }, "child_count": 0, "reference_id": "MONDO:0008740" }, { "id": 10016, "label": "Stimmler syndrome", "isLeaf": true, "isRoot": false, "parents": [ 16087 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0005026", "MEDGEN:348505", "MESH:C565968", "OMIM:202900", "Orphanet:3199", "SCTID:733072002", "UMLS:C1859965" ], "synonyms": [ "Stimmler syndrome", "ALANINURIA with microcephaly, dwarfism, enamel hypoplasia, and diabetes mellitus", "Alaninuria with microcephaly, dwarfism, enamel hypoplasia and diabetes mellitus" ], "definition": "Stimmler syndrome is characterized by the association of microcephaly, low birth weight and severe intellectual deficit with dwarfism, small teeth and diabetes mellitus. Two cases have been described. Biochemical tests reveal the presence of high levels of alanine in the urine and elevated alanine, pyruvate and lactate levels in the blood." }, "child_count": 0, "reference_id": "MONDO:0008743" }, { "id": 10062, "label": "anencephaly 1", "isLeaf": true, "isRoot": false, "parents": [ 3145, 16087 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0005808", "ICD9:740.0", "MEDGEN:1794138", "OMIM:206500", "Orphanet:1048", "SCTID:89369001", "UMLS:C5561928" ], "synonyms": [ "ANPH", "anencephaly", "anencephaly 1", "isolated anencephaly/exencephaly", "absence of a large part of the brain and the skull" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "Anencephaly is a neural tube defect. This malformation is characterized by the total or partial absence of the cranial vault and the covering skin, the brain being missing or reduced to a small mass. Most cases are stillborn, although some infants have been reported to survive for a few hours or even a few days." }, "child_count": 0, "reference_id": "MONDO:0008791" }, { "id": 10067, "label": "aniridia-renal agenesis-psychomotor retardation syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370, 5714, 16087, 21415 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0000690", "MEDGEN:347952", "MESH:C000598722", "OMIM:206750", "Orphanet:1064", "SCTID:733116005", "UMLS:C1859782" ], "synonyms": [ "Sommer-Rathbun-Battles syndrome", "Sommer Rathbun Battles syndrome", "aniridia partial with unilateral renal agenesis and psychomotor retardation", "aniridia renal agenesis psychomotor retardation", "aniridia, partial, with unilateral renal agenesis and psychomotor retardation" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0024458", "name": "disorder of visual system" } ], "definition": "Aniridia - renal agenesis - psychomotor retardation is an extremely rare syndrome reported in two siblings of non consanguineous parents that is characterized by the association of ocular abnormalities (partial aniridia, congenital glaucoma, telecanthus) with frontal bossing, hypertelorism, unilateral renal agenesis and mild psychomotor delay. There have been no further descriptions in the literature since 1974." }, "child_count": 0, "reference_id": "MONDO:0008796" }, { "id": 10129, "label": "Biemond syndrome type 2", "isLeaf": true, "isRoot": false, "parents": [ 16087 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0000882", "MEDGEN:347159", "MESH:C565902", "OMIM:210350", "Orphanet:141333", "SCTID:717887003", "UMLS:C1859487" ], "synonyms": [ "Biemond syndrome type 2", "hypogonadism-short stature-coloboma-preaxial polydactyly syndrome", "BIEMOND syndrome II", "BS2", "Biemond syndrome 2", "iris coloboma, intellectual disability, obesity, hypogenitalism, and postaxial polydactyly", "iris coloboma, mental retardation, obesity, hypogenitalism, and postaxial polydactyly" ], "definition": "Biemond syndrome type 2 (BS2) is a rare genetic neurological and developmental disorder reported in a very small number of patients with a poorly defined phenotype which includes iris coloboma, short stature, obesity, hypogonadism, postaxial polydactyly, and intellectual disability. Hydrocephalus and facial dysostosis were also reported. BS2 shares features with Bardet-Biedl syndrome. There have been no further descriptions in the literature since 1997." }, "child_count": 0, "reference_id": "MONDO:0008864" }, { "id": 10135, "label": "bird headed-dwarfism, Montreal type", "isLeaf": true, "isRoot": false, "parents": [ 16087, 18360 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0000895", "MEDGEN:347890", "MESH:C535448", "OMIM:210700", "Orphanet:2617", "UMLS:C1859468" ], "synonyms": [ "Bird-headed dwarfism with features of premature senility", "Bird-headed dwarfism, Montreal type", "microcephalic primordial dwarfism, Montreal type", "premature senility, premature graying and loss of scalp hair and wrinkled skin of the palms", "premature senility, premature greying and loss of scalp hair and wrinkled skin of the palms" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" } ], "definition": "Microcephalic primordial dwarfism, Montreal type is a rare, genetic multiple congenital anomalies/dysmorphic syndrome characterized by severe short stature and craniofacial dysmorphism (microcephaly, narrow face with flat cheeks, ptosis, prominent nose with a convex ridge, low-set ears with small or absent lobes, high-arched/cleft palate, micrognathia), associated with premature graying and loss of scalp hair, redundant, dry and wrinkled skin of the palms, premature senility and varying degrees of intellectual disability. Cryptorchidism and skeletal anomalies may also be observed. There have been no further descriptions in the literature since 1970." }, "child_count": 0, "reference_id": "MONDO:0008870" }, { "id": 10144, "label": "Bowen-Conradi syndrome", "isLeaf": true, "isRoot": false, "parents": [ 7611, 16087 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0050684", "GARD:0005950", "ICD9:759.89", "MEDGEN:349160", "MESH:C537081", "NORD:869", "OMIM:211180", "Orphanet:1270", "SCTID:711153001", "UMLS:C1859405", "icd11.foundation:1713786719" ], "synonyms": [ "BWCNS", "Bowen Hutterite Syndrome", "Bowen Hutterite syndrome (formerly)", "Bowen Hutterite syndrome, formerly", "Bowen syndrome, Hutterite type", "Bowen-Conradi Hutterite syndrome", "Bowen-Conradi syndrome" ], "definition": "Bowen-Conradi syndrome (BCS) is a lethal autosomal recessive ribosomal biogenesis disorder characterized by severe prenatal and postnatal growth retardation, microcephaly, a distinctive facial appearance, extreme psychomotor delay, hip and knee contractures and rockerbottom feet." }, "child_count": 0, "reference_id": "MONDO:0008879" }, { "id": 10150, "label": "Elsahy-Waters syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370, 5714, 16087 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0080631", "GARD:0000955", "MEDGEN:923028", "MESH:C537084", "MESH:C566373", "OMIM:211380", "OMIM:603463", "Orphanet:1299", "Orphanet:157788", "SCTID:719097002", "UMLS:C0809936" ], "synonyms": [ "BSG syndrome", "ELSAHY-Waters syndrome", "ESWS", "Elsahy-Waters syndrome", "brachioskeletogenital syndrome", "hypospadias, hypertelorism, upper 51D coloboma, and mixed-type hearing loss", "hypospadias, hypertelorism, upper lid coloboma, and mixed-type hearing loss", "hypospadias-hypertelorism-coloboma and deafness syndrome", "branchio-skeleto-genital syndrome" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "An extremely rare multiple congenital anomalies/dysmorphic syndrome, described in three boys from one family, and characterized by intellectual disability, hypertelorism, broad and flat nasal bridge, maxillary hypoplasia, mandibular prognathism, bifid uvula or partial cleft palate, multiple dental cysts, Schmorl nodes, fused cervical spinous processes, pectus excavatum, and penoscrotal hypospadias. There have been no further descriptions in the literature since 1971." }, "child_count": 0, "reference_id": "MONDO:0008885" }, { "id": 10158, "label": "C syndrome", "isLeaf": true, "isRoot": false, "parents": [ 16087, 16201 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0111581", "GARD:0005978", "MEDGEN:167105", "MESH:C537418", "NORD:882", "OMIM:211750", "Orphanet:1308", "SCTID:715409005", "UMLS:C0796095", "icd11.foundation:1482041278" ], "synonyms": [ "C syndrome", "OTCS", "Opitz C trigonocephaly", "Opitz trigonocephaly C syndrome", "Opitz trigonocephaly syndrome", "trigonocephaly C syndrome", "trigonocephaly syndrome" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "C syndrome is a rare multiple congenital anomaly/intellectual disability syndrome characterized by trigonocephaly and metopic suture synostosis, dysmorphic facial features, short neck, skeletal anomalies, and variable intellectual disability." }, "child_count": 0, "reference_id": "MONDO:0008893" }, { "id": 10164, "label": "camptodactyly with fibrous tissue hyperplasia and skeletal dysplasia", "isLeaf": true, "isRoot": false, "parents": [ 7611, 16087, 18362 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0001064", "MEDGEN:1848853", "MESH:C537974", "OMIM:211930", "Orphanet:1321", "UMLS:C5848327" ], "synonyms": [ "camptodactyly with fibrous tissue hyperplasia and skeletal dysplasia", "camptodactyly, fibrous tissue hyperplasia, and skeletal dysplasia" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" } ], "definition": "Camptodactyly - fibrous tissue hyperplasia - skeletal dysplasia syndrome is an extremely rare chondrodysplastic malformation syndrome that is characterized by the combination of arachnodactyly, becoming evident at around the age of 10, camptodactyly (hammertoes) and scoliosis. A mild facial dysmorphism including a broad nose and flaring nostrils, and a mild intellectual disability were also noted. Camptodactyly - fibrous tissue hyperplasia - skeletal dysplasia syndrome has been described once in 3 siblings and is suspected to follow autosomal recessive transmission. There have been no further descriptions in the literature since 1972." }, "child_count": 0, "reference_id": "MONDO:0008900" }, { "id": 10254, "label": "Cohen syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4427, 16076, 16087, 24320 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0111590", "GARD:0006126", "ICD9:759.89", "MEDGEN:78539", "MESH:C536438", "MedDRA:10049066", "NANDO:2200750", "NORD:986", "OMIM:216550", "Orphanet:193", "SCTID:56604005", "UMLS:C0265223", "icd11.foundation:1188737383" ], "synonyms": [ "Cohen syndrome", "cutis verticis gyrata, retinitis pigmentosa, and sensorineural deafness", "COH1", "Chs1", "Chs1, formerly", "Coh", "hypotonia, obesity, and prominent incisors", "pepper syndrome" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0005046", "name": "immune system disorder" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" }, { "ref": "MONDO:0005570", "name": "hematologic disorder" } ], "definition": "Cohen syndrome (CS) is a rare genetic developmental disorder characterized by microcephaly, characteristic facial features, hypotonia, non-progressive intellectual deficit, myopia and retinal dystrophy, neutropenia and truncal obesity." }, "child_count": 0, "reference_id": "MONDO:0008999" }, { "id": 10276, "label": "cortical blindness-intellectual disability-polydactyly syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370, 16087, 21415 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0001548", "MEDGEN:347487", "MESH:C565674", "OMIM:218010", "Orphanet:1389", "UMLS:C1857568" ], "synonyms": [ "cortical blindness, retardation, and postaxial polydactyly" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0024458", "name": "disorder of visual system" } ], "definition": "This syndrome is characterized by cortical blindness, intellectual deficit, and polydactyly." }, "child_count": 0, "reference_id": "MONDO:0009024" }, { "id": 10278, "label": "Costello syndrome", "isLeaf": true, "isRoot": false, "parents": [ 2903, 16087, 19780 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0050469", "GARD:0001550", "ICD9:799.89", "MEDGEN:108454", "MESH:D056685", "MedDRA:10067380", "NANDO:1200463", "NANDO:2200971", "NCIT:C84652", "NORD:1011", "OMIM:218040", "Orphanet:3071", "SCTID:309776008", "UMLS:C0587248", "icd11.foundation:1946512039" ], "synonyms": [ "Costello syndrome", "FCS syndrome", "congenital myopathy with excess of muscle spindles", "faciocutaneoskeletal syndrome", "CSTLO", "myopathy, congenital, with excess of muscle spindles" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0004995", "name": "cardiovascular disorder" } ], "definition": "Costello syndrome (CS) is a rare multisystemic disorder characterized by failure to thrive, short stature, developmental delay or intellectual disability, joint laxity, soft skin, and distinctive facial features. Cardiac and neurological involvement is common and there is an increased lifetime risk of certain tumors." }, "child_count": 0, "reference_id": "MONDO:0009026" }, { "id": 10284, "label": "temtamy syndrome", "isLeaf": true, "isRoot": false, "parents": [ 5714, 16087 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0111621", "GARD:0005688", "MEDGEN:347474", "MESH:C536959", "NCIT:C148371", "OMIM:218340", "Orphanet:1777", "SCTID:719947004", "UMLS:C1857512" ], "synonyms": [ "Temtamy-Shalash syndrome", "craniofacial dysmorphism-coloboma-corpus callosum agenesis syndrome", "temtamy syndrome", "Dysmorphism, corpus callosum agenesis and colobomas", "TEMTAMY syndrome", "TEMTYS", "craniofacial dysmorphism with ocular coloboma absent corpus callosum and aortic dilatation", "intellectual disability with or without craniofacial Dysmorphism, ocular coloboma, or abnormal corpus callosum", "mental retardation with or without craniofacial Dysmorphism, ocular coloboma, or abnormal corpus callosum" ], "definition": "Temtamy syndrome is a very rare congenital genetic neurological disorder characterized by agenesis/hypoplasia of corpus callosum with developmental abnormalities, ocular disorders, and variable craniofacial and skeletal abnormalities." }, "child_count": 0, "reference_id": "MONDO:0009033" }, { "id": 10287, "label": "cardiocranial syndrome, Pfeiffer type", "isLeaf": true, "isRoot": false, "parents": [ 16087, 16201 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0008586", "MEDGEN:346598", "MESH:C535578", "OMIM:218450", "Orphanet:2872", "SCTID:720606005", "UMLS:C1857495", "icd11.foundation:629231429" ], "synonyms": [ "Pfeiffer-Singer-Zschiesche syndrome", "craniosynostosis-congenital heart disease-intellectual disability syndrome", "sagittal craniostenosis with congenital heart disease, mental deficiency and mandibular ankylosis", "Cardiocranial syndrome", "Pfeiffer Cardiocranial syndrome", "Pfeiffer Singer Zschiesche syndrome", "Pfeiffer-type cardiocranial syndrome", "craniostenosis, sagittal, with congenital heart disease, mental deficiency, and mandibular ankylosis" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "Pfeiffer-type cardiocranial syndrome is an extremely rare disorder recognized in less than ten patients worldwide and characterized by a congenital heart defect, sagittal craniosynostosis and severe developmental delay (growth retardation and intellectual deficit)." }, "child_count": 0, "reference_id": "MONDO:0009036" }, { "id": 10323, "label": "facial dysmorphism-macrocephaly-myopia-Dandy-Walker malformation syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4427, 16087, 19709 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0002222", "MEDGEN:341752", "MESH:C535985", "OMIM:220219", "Orphanet:1970", "UMLS:C1857352" ], "synonyms": [ "Dandy-Walker malformation with intellectual disability, macrocephaly, myopia, and BRACHYTELEPHALANGY", "Dandy-Walker malformation with mental retardation, macrocephaly, myopia, and BRACHYTELEPHALANGY" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "Facial dysmorphism-macrocephaly-myopia-Dandy-Walker malformation syndrome is characterized by Dandy-Walker malformation, severe intellectual deficit, macrocephaly, brachytelephalangy, facial dysmorphism and severe myopia. Three cases have been described. Transmission appears to be autosomal recessive." }, "child_count": 0, "reference_id": "MONDO:0009074" }, { "id": 10369, "label": "Dubowitz syndrome", "isLeaf": true, "isRoot": false, "parents": [ 16087, 19138 ], "type_id": 0, "properties": { "xrefs": [ "DOID:14796", "GARD:0006290", "ICD9:742.8", "MEDGEN:59797", "MESH:C535718", "MedDRA:10059589", "NCIT:C125591", "NORD:1064", "OMIM:223370", "Orphanet:235", "SCTID:2593002", "UMLS:C0175691", "icd11.foundation:758537040" ], "synonyms": [ "Dubowitz syndrome", "dwarfism-eczema-peculiar facies syndrome", "intrauterine growth retardation, short stature, microcephaly, mild intellectual disability with behavior problems, eczema, and unusual and distinctive faci", "intrauterine growth retardation, short stature, microcephaly, mild intellectual disability with behaviour problems, eczema, and unusual and distinctive faci", "intrauterine growth retardation, short stature, microcephaly, mild mental retardation with behavior problems, eczema, and unusual and distinctive faci", "intrauterine growth retardation, short stature, microcephaly, mild mental retardation with behaviour problems, eczema, and unusual and distinctive faci" ], "categories": [ { "ref": "MONDO:0002051", "name": "integumentary system disorder" }, { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "A rare multiple congenital syndrome characterized primarily by growth retardation, microcephaly, distinctive facial dysmorphism, cutaneous eczema, a mild to severe intellectual deficit and genital abnormalities." }, "child_count": 0, "reference_id": "MONDO:0009124" }, { "id": 10410, "label": "Bonnemann-Meinecke-Reich syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370, 16087, 23939 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0002113", "MEDGEN:346482", "MESH:C565594", "OMIM:225755", "Orphanet:1261", "SCTID:733049004", "UMLS:C1856973" ], "synonyms": [ "encephalopathy-intracerebral calcification-retinal degeneration syndrome", "Bonnemann Meinecke Reich syndrome", "encephalopathy intracranial calcification growth hormone deficiency microcephaly retinal degeneration", "encephalopathy with intracranial calcification, growth hormone deficiency, microcephaly, and retinal degeneration" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "Bonnemann-Meinecke-Reich syndrome is a syndrome of multiple congenital anomalies characterized by an encephalopathy which predominantly occurs in the first year of life and presenting as psychomotor delay. Additional features of the disease include moderate dysmorphia, craniosynostosis, dwarfism (due to growth hormone deficiency), intellectual disability, spasticity, ataxia, retinal degeneration, and adrenal and uterine hypoplasia. The disease has been described in only two families, with each family having two affected siblings. An autosomal recessive inheritance has been suggested. There have been no further descriptions in the literature since 1991." }, "child_count": 0, "reference_id": "MONDO:0009167" }, { "id": 10431, "label": "epilepsy-telangiectasia syndrome", "isLeaf": true, "isRoot": false, "parents": [ 16087 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0002168", "MEDGEN:384017", "MESH:C535497", "OMIM:226850", "Orphanet:1951", "UMLS:C1856929" ], "synonyms": [ "epilepsy telangiectasia", "epilepsy-telangiectasia", "intellectual disability, epilepsy, palpebral conjunctival telangiectasias and IgA deficiency", "mental retardation, epilepsy, palpebral conjunctival telangiectasias and IgA deficiency" ], "definition": "Epilepsy telangiectasia syndrome is characterized by intellectual deficit, epilepsy, palpebral conjunctival telangiectasias and diminished serum IgA, particular facies and a shortened fifth finger. It has been reported in six siblings from a Mexican family. It is probably transmitted as an autosomal recessive trait." }, "child_count": 0, "reference_id": "MONDO:0009188" }, { "id": 10448, "label": "faciocardiorenal syndrome", "isLeaf": true, "isRoot": false, "parents": [ 16087 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0002230", "MEDGEN:208649", "MESH:C536388", "OMIM:227280", "Orphanet:1973", "SCTID:723333000", "UMLS:C0795936" ], "synonyms": [ "Eastman-Bixler syndrome", "faciocardiorenal syndrome", "Eastman Bixler syndrome" ], "definition": "Faciocardiorenal syndrome is a very rare syndrome characterized by intellectual deficit, horseshoe kidney, and congenital heart defects." }, "child_count": 0, "reference_id": "MONDO:0009205" }, { "id": 10484, "label": "fountain syndrome", "isLeaf": true, "isRoot": false, "parents": [ 16087 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0000064", "MEDGEN:208650", "MESH:C537270", "OMIM:229120", "Orphanet:3219", "SCTID:720957007", "UMLS:C0795944" ], "synonyms": [ "deafness-skeletal dysplasia-coarse face with full lips syndrome", "deafness-skeletal dysplasia-lip granuloma syndrome", "fountain syndrome", "deafness, skeletal dysplasia, lip granuloma", "intellectual disability, deafness, skeletal abnormalities, coarse face with full lips", "intellectual disability, sensorineural deafness, skeletal abnormalities, and coarse face with full lips", "mental retardation, sensorineural deafness, skeletal abnormalities, and coarse face with full lips" ], "definition": "Fountain syndrome is an extremely rare multi-systemic genetic disorder characterized by intellectual disability, deafness, skeletal abnormalities and coarse facial features." }, "child_count": 0, "reference_id": "MONDO:0009241" }, { "id": 10494, "label": "Fryns syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370, 16087 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0003699", "ICD9:759.89", "MEDGEN:65088", "MESH:C538070", "NCIT:C98932", "NORD:1167", "OMIM:229850", "Orphanet:2059", "SCTID:702432006", "UMLS:C0220730", "icd11.foundation:1327847749" ], "synonyms": [ "Fryns syndrome", "diaphragmatic hernia-abnormal face-distal limb anomalies syndrome", "FRNS", "Moerman Van den Berghe Fryns syndrome", "diaphragmatic hernia, abnormal face, and distal limb anomalies" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "Fryns syndrome (FS) is a multiple congenital anomaly syndrome characterized by dysmorphic facial features, congenital diaphragmatic hernia, pulmonary hypoplasia, and distal limb hypoplasia, in addition to variable expression of additional malformations." }, "child_count": 0, "reference_id": "MONDO:0009253" }, { "id": 10504, "label": "GAPO syndrome", "isLeaf": true, "isRoot": false, "parents": [ 16087, 19138 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0112249", "GARD:0000400", "MEDGEN:98034", "MESH:C535642", "OMIM:230740", "Orphanet:2067", "SCTID:721843003", "UMLS:C0406723", "icd11.foundation:909165198" ], "synonyms": [ "Growth delay-alopecia-pseudoanodontia-optic atrophy syndrome", "gapo syndrome", "Growth retardation, alopecia, pseudoanodontia and optic atrophy", "Growth retardation, alopecia, pseudoanodontia, and optic atrophy" ], "categories": [ { "ref": "MONDO:0002051", "name": "integumentary system disorder" }, { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "A multiple congenital anomalies (MCA) syndrome involving connective tissue characterized by growth retardation, alopecia, pseudoanodontia and ocular manifestations" }, "child_count": 0, "reference_id": "MONDO:0009263" }, { "id": 10555, "label": "Hall-Riggs syndrome", "isLeaf": true, "isRoot": false, "parents": [ 16087 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0002586", "MEDGEN:341089", "MESH:C535623", "OMIM:234250", "Orphanet:2107", "SCTID:721008000", "UMLS:C1856198" ], "synonyms": [ "HALL-Riggs intellectual disability syndrome", "HALL-Riggs mental retardation syndrome", "Hall Riggs intellectual disability syndrome", "Hall Riggs mental retardation syndrome" ], "definition": "Hall-Riggs syndrome is a very rare syndrome consisting of microcephaly with facial dysmorphism, spondylometaepiphyseal dysplasia and severe intellectual deficit." }, "child_count": 0, "reference_id": "MONDO:0009320" }, { "id": 10573, "label": "Mowat-Wilson syndrome", "isLeaf": false, "isRoot": false, "parents": [ 4427, 16087, 16437, 24323 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0060485", "GARD:0009673", "ICD9:759.89", "MEDGEN:341067", "MESH:C536990", "NANDO:1200663", "NANDO:2200981", "NCIT:C74999", "NORD:1456", "OMIM:235730", "Orphanet:2152", "SCTID:703535000", "UMLS:C1856113", "icd11.foundation:1985672762" ], "synonyms": [ "Hirschsprung disease intellectual disability syndrome", "Hirschsprung disease-intellectual disability syndrome", "Mowat-Wilson syndrome", "microcephaly, intellectual disability, and distinct facial featrues, with or without Hirschprung disease", "Hirschsprung disease-mental retardation syndrome", "MOWS", "intellectual disability, microcephaly, and distinct facial features with or without Hirschsprung disease", "mental retardation, microcephaly, and distinct facial features with or without Hirschsprung disease", "microcephaly, intellectual disability, and distinct Facial features, with or without Hirschsprung disease", "microcephaly, mental retardation, and distinct Facial features, with or without Hirschsprung disease" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "Mowat-Wilson syndrome (MWS) is a multiple congenital anomaly syndrome characterized by a distinct facial phenotype, intellectual disability, epilepsy, Hirschsprung disease (HSCR) and variable congenital malformations." }, "child_count": 8, "reference_id": "MONDO:0009341" }, { "id": 10636, "label": "hypertelorism, microtia, facial clefting syndrome", "isLeaf": true, "isRoot": false, "parents": [ 7611, 16087 ], "type_id": 0, "properties": { "xrefs": [ "DOID:14670", "GARD:0000897", "MEDGEN:113104", "MESH:C537632", "OMIM:239800", "Orphanet:2213", "SCTID:721836009", "UMLS:C0220742" ], "synonyms": [ "Bixler-Christian-Gorlin syndrome", "HMC syndrome", "hypertelorism, microtia, facial clefting syndrome", "hypertelorism-microtia-facial clefting syndrome", "hypertelorism microtia facial clefting syndrome" ], "definition": "Hypertelorism-microtia-facial clefting syndrome, or HMC syndrome, is a very rare syndrome characterized by the combination of hypertelorism, cleft lip and palate and microtia." }, "child_count": 0, "reference_id": "MONDO:0009404" }, { "id": 10657, "label": "hypoparathyroidism-retardation-dysmorphism syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370, 7611, 16087, 24802 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0060348", "GARD:0000411", "MEDGEN:340984", "MESH:C537157", "NCIT:C133727", "OMIM:241410", "Orphanet:2323", "UMLS:C1855840" ], "synonyms": [ "HRD syndrome", "HRDS", "Richardson-Kirk syndrome", "SSS", "Sanjad-Sakati syndrome", "hypoparathyroidism with short stature, intellectual disability and seizures", "hypoparathyroidism-intellectual disability-dysmorphism syndrome", "hypoparathyroidism-retardation-dysmorphism syndrome", "hypoparathyroidism-short stature-intellectual disability-seizures syndrome", "HRD", "hypoparathyroidism with short stature, intellectual disability, and seizures", "hypoparathyroidism with short stature, mental retardation, and seizures", "hypoparathyroidism, congenital, associated with Dysmorphism, Growth retardation, and developmental delay", "hypoparathyroidism, congenital, associated with dysmorphism, growth retardation and developmental delay" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "Sanjad-Sakati syndrome (SSS), also known as hypoparathyroidism - intellectual disability-dysmorphism, is a rare multiple congenital anomaly syndrome, mainly occurring in the Middle East and the Arabian Gulf countries, characterized by intrauterine growth restriction at birth, microcephaly, congenital hypoparathyroidism (that can cause hypocalcemic tetany or seizures in infancy), severe growth retardation, typical facial features (long narrow face, deep-set eyes, beaked nose, floppy and large ears, long philtrum, thin lips and micrognathia), and mild to moderate intellectual deficiency. Ocular findings (i.e. nanophthalmos, retinal vascular tortuosity and corneal opacification/clouding) and superior mesenteric artery syndrome have also been reported. Although SSS shares the same locus with the autosomal recessive form of Kenny-Caffey syndrome, the latter differs from SSS by its normal intelligence and skeletal features." }, "child_count": 0, "reference_id": "MONDO:0009426" }, { "id": 10664, "label": "hypospadias-intellectual disability, Goldblatt type syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370, 16087 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0002928", "MEDGEN:162896", "MESH:C563067", "OMIM:241760", "Orphanet:2261", "SCTID:716096005", "UMLS:C0795989" ], "synonyms": [ "Goldblatt-Wallis syndrome", "Goldblatt Wallis syndrome", "hypospadias intellectual deficit Goldblatt type", "hypospadias intellectual disability Goldblatt type", "hypospadias intellectual disability syndrome", "hypospadias mental retardation Goldblatt type", "hypospadias mental retardation syndrome", "hypospadias-intellectual disability syndrome", "hypospadias-mental retardation syndrome" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "Hypospasdias B intellectual deficit, Goldblatt type is a very rare multiple congenital anomalies syndrome described in three brothers of one South-African family, and characterized by hypospadias and intellectual deficit, in association with mirocephaly, craniofacial dysmorphism, joint laxity and beaked nails." }, "child_count": 0, "reference_id": "MONDO:0009435" }, { "id": 10703, "label": "Stromme syndrome", "isLeaf": true, "isRoot": false, "parents": [ 16087, 17068, 23110 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0110595", "EFO:0009160", "GARD:0017945", "MEDGEN:340938", "MESH:C565460", "OMIM:243605", "OMIM:616369", "Orphanet:444069", "Orphanet:506307", "UMLS:C1855705" ], "synonyms": [ "CILD31", "Stromme syndrome", "apple peel syndrome with microcephaly and ocular anomalies", "apple-peel intestinal atresia-ocular anomalies-microcephaly syndrome", "ciliary dyskinesia, primary, type 31", "jejunal atresia with microcephaly and ocular anomalies", "jejunal atresia-microcephaly-ocular anomalies syndrome", "lethal fetal brain malformation-duodenal atresia-bilateral renal hypoplasia syndrome", "lethal foetal brain malformation-duodenal atresia-bilateral renal hypoplasia syndrome", "STROMS", "ciliary dyskinesia, primary, 31", "ciliary dyskinesia, primary, 31, formerly" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0005087", "name": "respiratory system disorder" } ], "definition": "An autosomal recessive congenital disorder affecting multiple systems with features of a ciliopathy. Affected individuals typically have some type of intestinal atresia, variable ocular abnormalities, microcephaly, and sometimes involvement of other systems, including renal and cardiac. In some cases, the condition is lethal in early life, whereas other patients show normal survival with or without mild cognitive impairment (summary by Filges et al., 2016)." }, "child_count": 0, "reference_id": "MONDO:0009477" }, { "id": 10705, "label": "Johanson-Blizzard syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4427, 7048, 7611, 16087, 22991, 24270 ], "type_id": 0, "properties": { "xrefs": [ "DOID:14694", "GARD:0000080", "ICD9:759.89", "MEDGEN:59798", "MESH:C535880", "MESH:C564907", "NORD:1311", "OMIM:243800", "OMIM:260450", "Orphanet:2315", "SCTID:75979009", "UMLS:C0175692", "icd11.foundation:1427330812" ], "synonyms": [ "JBS", "Johanson-Blizzard syndrome", "pancreatic insufficiency, combined exocrine", "Johanson-BLIZZARD syndrome", "nasal alar hypoplasia, hypothyroidism, pancreatic achylia and congenital deafness", "nasal alar hypoplasia, hypothyroidism, pancreatic achylia, and congenital deafness" ], "categories": [ { "ref": "MONDO:0002409", "name": "auditory system disorder" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "A multiple congenital anomaly characterized by exocrine pancreatic insufficiency, hypoplasia/aplasia of the nasal alae, hypodontia, sensorineural hearing loss, growth retardation, anal and urogenital malformations, and variable intellectual disability." }, "child_count": 0, "reference_id": "MONDO:0009479" }, { "id": 10709, "label": "Kapur-Toriello syndrome", "isLeaf": true, "isRoot": false, "parents": [ 16087 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0003078", "MEDGEN:208654", "MESH:C537008", "OMIM:244300", "Orphanet:2328", "SCTID:722031003", "UMLS:C0796005" ], "synonyms": [ "cleft lip/palate-facial, eye, heart and intestinal anomalies syndrome", "kapur-Toriello syndrome", "kapur Toriello syndrome", "long columella with cleft Lip/palate and eye, heart, and intestinal anomalies", "long columella with cleft lip/palate and eye, heart and intestinal anomalies" ], "definition": "Kapur-Toriello syndrome is an extremely rare syndrome characterized by facial dysmorphism, severe intellectual deficiency, cardiac and intestinal anomalies, and growth retardation." }, "child_count": 0, "reference_id": "MONDO:0009483" }, { "id": 10711, "label": "oculocerebrofacial syndrome, Kaufman type", "isLeaf": true, "isRoot": false, "parents": [ 4370, 5714, 16087 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0111456", "GARD:0003084", "MEDGEN:343403", "MESH:C537013", "OMIM:244450", "Orphanet:2707", "SCTID:722056009", "UMLS:C1855663" ], "synonyms": [ "BPIDS", "blepharophimosis-ptosis-intellectual disability syndrome", "oculocerebrofacial syndrome, Kaufman type", "KOS", "Kaufman oculocerebrofacial syndrome", "kos", "severe intellectual disability, microcephaly, long narrow face, ocular anomalies, and long thin hands and feet", "severe mental retardation, microcephaly, long narrow face, ocular anomalies, and long thin hands and feet" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ] }, "child_count": 0, "reference_id": "MONDO:0009485" }, { "id": 10720, "label": "Keutel syndrome", "isLeaf": true, "isRoot": false, "parents": [ 16087, 18956, 19476 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0008449", "MEDGEN:383722", "MESH:C536167", "OMIM:245150", "Orphanet:85202", "SCTID:724208006", "UMLS:C1855607", "icd11.foundation:1083151379" ], "synonyms": [ "Keutel syndrome", "pulmonic stenosis-brachytelephalangism-calcification of cartilages syndrome", "KEUTEL syndrome", "KTLS", "pulmonic stenosis brachytelephalangism and calcification of cartilages", "pulmonic stenosis, brachytelephalangism, and calcification of cartilages" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" } ], "definition": "Keutel syndrome is characterized by diffuse cartilage calcification, brachytelephalangism, peripheral pulmonary artery stenoses and facial dysmorphism." }, "child_count": 0, "reference_id": "MONDO:0009495" }, { "id": 10732, "label": "Lambert syndrome", "isLeaf": true, "isRoot": false, "parents": [ 16087 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0003169", "MEDGEN:343381", "MESH:C538396", "OMIM:245550", "Orphanet:1296", "SCTID:732961003", "UMLS:C1855551" ], "synonyms": [ "Lambert syndrome", "branchial dysplasia-intellectual disability-inguinal hernia syndrome", "branchial dysplasia clubfoot inguinal hernia and biliary atresia", "branchial dysplasia, clubfoot, inguinal hernia, and biliary atresia" ], "definition": "Lambert syndrome is a very rare syndrome described in four sibs of one French family and characterized by branchial dysplasia (malar hypoplasia, macrostomia, preauricular tags and meatal atresia), club feet, inguinal herniae and cholestasis due to paucity of interlobular bile ducts and intellectual deficit." }, "child_count": 0, "reference_id": "MONDO:0009507" }, { "id": 10738, "label": "Laurence-Moon syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370, 7611, 16087, 16526 ], "type_id": 0, "properties": { "xrefs": [ "DOID:1930", "GARD:0012635", "ICD9:253.4", "MEDGEN:44078", "MESH:D007849", "MedDRA:10056710", "NCIT:C34760", "NORD:1932", "OMIM:245800", "Orphanet:2377", "SCTID:232059000", "UMLS:C0023138", "icd11.foundation:458834940" ], "synonyms": [ "LMS", "Laurence-Moon syndrome", "LNMS", "Laurence-MOON syndrome" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0005039", "name": "reproductive system disorder" }, { "ref": "MONDO:0005151", "name": "endocrine system disorder" } ], "definition": "A very rare genetic multisystemic disorder characterized by pituitary dysfunction, ataxia, peripheral neuropathy, spastic paraplegia, and chorioretinal dystrophy." }, "child_count": 0, "reference_id": "MONDO:0009514" }, { "id": 10748, "label": "intellectual disability-spasticity-ectrodactyly syndrome", "isLeaf": true, "isRoot": false, "parents": [ 16087, 18362, 18956 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0003523", "MEDGEN:340888", "MESH:C537446", "OMIM:246555", "Orphanet:1891", "SCTID:763743003", "UMLS:C1855501" ], "synonyms": [ "Jancar syndrome", "ectrodactyly, spastic paraplegia and intellectual disability", "ectrodactyly, spastic paraplegia and mental retardation", "intellectual disability spasticity ectrodactyly", "intellectual disability, spasticity and transverse limb defects", "limb defects, distal transverse, with intellectual disability and spasticity", "limb defects, distal transverse, with mental retardation and spasticity", "mental retardation spasticity ectrodactyly", "mental retardation, spasticity and transverse limb defects" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" } ], "definition": "Intellectual disability-spasticity-ectrodactyly syndrome is a rare intellectual disability syndrome characterized by severe intellectual disability, spastic paraplegia (with wasting of the lower limbs) and distal transverse defects of the limbs (e.g. ectrodactyly, syndactyly, clinodactyly of the hands and/or feet)." }, "child_count": 0, "reference_id": "MONDO:0009524" }, { "id": 10765, "label": "prominent glabella-microcephaly-hypogenitalism syndrome", "isLeaf": true, "isRoot": false, "parents": [ 16087 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0000144", "MEDGEN:162900", "MESH:C537714", "OMIM:247990", "Orphanet:2083", "UMLS:C0796024" ], "synonyms": [ "MacDermot-Winter syndrome", "Mac Dermot Winter syndrome", "prominent glabella microcephaly hypogenitalism" ], "definition": "Prominent glabella B microcephaly B hypogenitalism is a very rare syndrome described in two sibs and characterized by prenatal onset of growth deficiency, microcephaly, hypoplastic genitalia, and birth onset of convulsions." }, "child_count": 0, "reference_id": "MONDO:0009543" }, { "id": 10785, "label": "Marden-Walker syndrome", "isLeaf": true, "isRoot": false, "parents": [ 7000, 16087, 16094 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0006973", "ICD9:759.89", "MEDGEN:163206", "MESH:C535910", "NORD:1402", "OMIM:248700", "Orphanet:2461", "SCTID:449824004", "UMLS:C0796033", "icd11.foundation:1983460876" ], "synonyms": [ "Marden Walker Syndrome", "Marden-Walker syndrome", "MARDEN-WALKER syndrome", "MWKS", "Mws", "connective tissue disorder Marden Walker type" ], "definition": "Marden-Walker syndrome (MWS) is a malformation syndrome characterized by multiple joint contractures (arthrogryposis), a mask-like face with blepharophimosis, micrognathia, high-arched or cleft palate, low-set ears, decreased muscular bulk, kyphoscoliosis and arachnodactyly." }, "child_count": 0, "reference_id": "MONDO:0009564" }, { "id": 10786, "label": "microcephaly-glomerulonephritis-marfanoid habitus syndrome", "isLeaf": true, "isRoot": false, "parents": [ 16087 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0003615", "MEDGEN:343327", "MESH:C565411", "OMIM:248760", "Orphanet:2172", "UMLS:C1855348" ], "synonyms": [ "MARFANOID habitus with microcephaly and glomerulonephritis", "microcephaly glomerulonephritis Marfanoid habitus" ], "definition": "This syndrome is characterized by intellectual deficit, marfanoid habitus, microcephaly, and glomerulonephritis." }, "child_count": 0, "reference_id": "MONDO:0009565" }, { "id": 10787, "label": "marfanoid habitus-autosomal recessive intellectual disability syndrome", "isLeaf": true, "isRoot": false, "parents": [ 16087 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0003388", "MEDGEN:343326", "MESH:C565410", "OMIM:248770", "Orphanet:2463", "UMLS:C1855347" ], "synonyms": [ "MARFANOID intellectual disability syndrome, autosomal", "MARFANOID mental retardation syndrome, autosomal", "Marfanoid intellectual disability syndrome autosomal", "Marfanoid mental retardation syndrome autosomal" ], "definition": "Marfanoid habitus B intellectual deficit, autosomal recessive is a very rare multiple congenital anomalies syndrome described in four sibs and characterized by intellectual deficit, flat face and some skeletelal features of Marfan syndrome such as tall stature, dolichostenomelia, arm span larger than height, arachnodactyly of hands and feet, little subcutaneous fat, muscle hypotonia and intellectual deficit." }, "child_count": 0, "reference_id": "MONDO:0009566" }, { "id": 10791, "label": "McDonough syndrome", "isLeaf": true, "isRoot": false, "parents": [ 16087 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0003424", "MEDGEN:162902", "MESH:C538158", "OMIM:248950", "Orphanet:2471", "SCTID:715441004", "UMLS:C0796038", "icd11.foundation:1349711155" ], "synonyms": [ "McDonough syndrome", "intellectual disability, peculiar facies, kyphoscoliosis, diastasis recti, cryptorchidism, and congenital heart defect", "mental retardation, peculiar facies, kyphoscoliosis, diastasis recti, cryptorchidism, and congenital heart defect" ], "definition": "A rare, multiple congenital anomalies/dysmorphic syndrome characterized by facial dysmorphsim (prominent superciliary arcs, synophrys, strabismus, large, anteverted ears, large nose, malocclusion of teeth), delayed psychomotor development, intellectual disability and congenital heart defects (e.g. pulmonic stenosis, patent ductus arteriosus, atrial septal defect). Additional features include thorax deformation (pectus excavatum/carinatum), kyphoscoliosis, diastasis recti and cryptorchidism." }, "child_count": 0, "reference_id": "MONDO:0009570" }, { "id": 10802, "label": "intellectual disability-dysmorphism-hypogonadism-diabetes mellitus syndrome", "isLeaf": true, "isRoot": false, "parents": [ 16087 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0009811", "MEDGEN:343317", "MESH:C537447", "OMIM:249599", "Orphanet:3044", "SCTID:722454003", "UMLS:C1855303" ], "synonyms": [ "Belgian type intellectual disability syndrome", "Belgian type mental retardation syndrome", "intellectual disability syndrome, Belgian type", "mental retardation syndrome, Belgian type" ], "definition": "Intellectual disability-dysmorphism-hypogonadism-diabetes mellitus syndrome is characterized by moderate intellectual deficit, craniofacial dysmorphism (including broad nose with coloboma of the alea nasi, deep-set eyes, prognathism), hypergonadotropic hypogonadism, eunuchoid habitus, type 1 diabetes mellitus, and epilepsy. It has been described in four patients (three brothers and their sister). This syndrome is probably transmitted as an autosomal recessive trait." }, "child_count": 0, "reference_id": "MONDO:0009581" }, { "id": 10805, "label": "intellectual disability, Buenos-Aires type", "isLeaf": true, "isRoot": false, "parents": [ 2961, 4427, 16087 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0003485", "MEDGEN:167102", "MESH:C563095", "OMIM:249630", "Orphanet:3079", "SCTID:725906006", "UMLS:C0796080" ], "synonyms": [ "Mutchinick syndrome", "intellectual deficit Buenos-Aires type", "intellectual disability Buenos Aires type", "intellectual disability, Buenos Aires type", "mental retardation Buenos Aires type", "mental retardation, Buenos Aires type" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "Intellectual disability, Buenos-Aires type is a rare intellectual disability syndrome characterized by growth retardation, microcephaly, characteristic facial features (including narrow forehead, bushy eyebrows, hypertelorism, small, downward-slanting palpebral fissures with blepharoptosis, malformed and low-set ears, broad straight nose, thin upper lip, and a wide, tented mouth), developmental delay, intellectual disability, speech disorder, and multiple organ malformations (e.g. ventricular septal defect, megaloureter, dilated renal pelvis). Additional manifestations reported include neurocutaneous lesions (including palmoplantar hyperkeratosis), internal hydrocephalus, and bilateral partial soft-tissue syndactyly of second and third toe." }, "child_count": 0, "reference_id": "MONDO:0009584" }, { "id": 10838, "label": "microcephaly-cardiomyopathy syndrome", "isLeaf": true, "isRoot": false, "parents": [ 16087 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0003609", "MEDGEN:381554", "MESH:C536711", "OMIM:251220", "Orphanet:2515", "SCTID:719380003", "UMLS:C1855080" ], "synonyms": [ "Winship-Viljoen-Leary syndrome", "microcephaly with cardiomyopathy", "microcephaly-cardiomyopathy", "severe microcephaly and self-limiting dilated cardiomyopathy", "severe microcephaly with intellectual disability and dilated cardiomyopathy", "severe microcephaly with mental retardation and dilated cardiomyopathy" ], "definition": "A syndrome characterized by severe intellectual deficit, microcephaly and dilated cardiomyopathy. Hand and foot anomalies have also been reported. The syndrome has been described in three individuals. Transmission is autosomal recessive." }, "child_count": 0, "reference_id": "MONDO:0009618" }, { "id": 10840, "label": "Say-Barber-Miller syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370, 5658, 16087 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0000239", "MEDGEN:343258", "MESH:C536618", "OMIM:251240", "Orphanet:3132", "SCTID:721903007", "UMLS:C1855078" ], "synonyms": [ "microcephaly-hypogammaglobulinemia-abnormal immunity syndrome", "Say Barber Miller syndrome", "microcephaly hypogammaglobulinemia abnormal immunity", "microcephaly with chemotactic defect and transient hypogammaglobulinemia" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0005046", "name": "immune system disorder" } ], "definition": "Say-Barber-Miller syndrome is characterized by the association of unusual facial features, microcephaly, developmental delay, and severe postnatal growth retardation." }, "child_count": 0, "reference_id": "MONDO:0009620" }, { "id": 10841, "label": "microcephaly-cervical spine fusion anomalies syndrome", "isLeaf": true, "isRoot": false, "parents": [ 16087 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0003610", "MEDGEN:208663", "MESH:C537325", "OMIM:251250", "Orphanet:2522", "SCTID:715462003", "UMLS:C0796066" ], "synonyms": [ "microcephaly cervical spine fusion anomalies", "microcephaly with cervical spine fusion anomalies", "microcephaly, mild intellectual disability, short stature, and skeletal anomalies", "microcephaly, mild mental retardation, short stature, and skeletal anomalies" ], "definition": "Microcephaly-cervical spine fusion anomalies syndrome is characterized by microcephaly, facial dysmorphism (beaked nose, low-set ears, downslanting palpebral fissures, micrognathia), mild intellectual deficit, short stature, and cervical spine fusion anomalies producing spinal cord compression. It has been described in two brothers born to consanguineous parents. Transmission is likely to be autosomal recessive." }, "child_count": 0, "reference_id": "MONDO:0009621" }, { "id": 10842, "label": "Jawad syndrome", "isLeaf": true, "isRoot": false, "parents": [ 5714, 16087 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0017410", "MEDGEN:810673", "OMIM:251255", "Orphanet:313795", "UMLS:C0796063" ], "synonyms": [ "Jawad syndrome", "JAWAD syndrome", "JWDS", "Kelly syndrome", "microcephaly with intellectual disability and digital anomalies", "microcephaly with mental retardation and digital anomalies" ], "definition": "Jawad syndrome is a rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by congenital microcephaly with facial dysmorphism (sloping forehead, prominent nose, mild retrognathia), moderate to severe, non-progressive intellectual disability and symmetrical digital malformations of variable degree, including brachydactyly of the fifth fingers with single flexion crease, clinodactyly, syndactyly, polydactyly and hallux valgus. Congenital anonychia and white café au lait-like spots on the skin of hands and feet are also associated." }, "child_count": 0, "reference_id": "MONDO:0009622" }, { "id": 10882, "label": "lethal multiple pterygium syndrome", "isLeaf": false, "isRoot": false, "parents": [ 4370, 16087, 17720 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0003834", "ICD9:759.89", "MEDGEN:381473", "NCIT:C101038", "OMIM:253290", "Orphanet:33108", "SCTID:60192008", "UMLS:C1854678" ], "synonyms": [ "LMPS", "autosomal recessive lethal multiple pterygium syndrome", "lethal multiple pterygium syndrome", "multiple pterygium syndrome lethal type", "multiple pterygium syndrome, lethal type", "pterygium syndrome multiple lethal type", "pterygium syndrome, multiple, lethal type" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "Multiple pterygium syndrome lethal type is a very rare genetic condition affecting the skin, muscles and skeleton. It is characterized by minor facial abnormalities, prenatal growth deficiency, spine defects, joint contractures, and webbing (pterygia)of the neck, elbows, back of the knees, armpits, and fingers. Fetuses with this condition are usually not born. Some of the prenatal complications include cystic hygroma, hydrops, diaphragmatic hernia, polyhydramnios, underdevelopment of the heart and lungs, microcephaly, bone fusions, joint dislocations, spinal fusion, andbone fractures. Both X-linked and autosomal recessive inheritance have been proposed. Mutations in the CHRNG, CHRNA1, and CHRND genes have been found to cause this condition." }, "child_count": 3, "reference_id": "MONDO:0009668" }, { "id": 10951, "label": "neurofaciodigitorenal syndrome", "isLeaf": true, "isRoot": false, "parents": [ 16087 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0003964", "MEDGEN:163212", "MESH:C537388", "OMIM:256690", "Orphanet:2673", "SCTID:725908007", "UMLS:C0796088" ], "synonyms": [ "Freire Maia-Pinheiro-Opitz syndrome", "neurofaciodigitorenal syndrome", "Freire-Maia Pinheiro Opitz syndrome", "Nfdr syndrome" ], "definition": "Neurofaciodigitorenal syndrome is a rare, multiple developmental anomalies syndrome characterized by neurological abnormalities (including megalencephaly, hypotonia, intellectual disability, abnormal EEG), dysmorphic facial features (high prominent forehead, grooved nasal tip, ptosis, ear anomalies) and acrorenal defects (such as triphalangism, broad halluces, unilateral renal agenesis). Additionally, intrauterine growth restriction, short stature and congenital heart defects may be associated. There have been no further descriptions in the literature since 1997." }, "child_count": 0, "reference_id": "MONDO:0009740" }, { "id": 10979, "label": "oculo-palato-cerebral syndrome", "isLeaf": true, "isRoot": false, "parents": [ 16087 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0016606", "MEDGEN:338025", "MESH:C564935", "OMIM:257910", "Orphanet:2714", "SCTID:722055008", "UMLS:C1850338" ], "synonyms": [ "oculo-palato-cerebral dwarfism", "OPC dwarfism", "oculopalatocerebral dwarfism", "oculopalatocerebral syndrome" ], "definition": "Oculopalatocerebral syndrome is characterized by the association of four anomalies: intellectual deficit, microcephaly, palate anomalies and ocular abnormalities." }, "child_count": 0, "reference_id": "MONDO:0009769" }, { "id": 10987, "label": "Oliver syndrome", "isLeaf": true, "isRoot": false, "parents": [ 16087 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0004069", "MEDGEN:342472", "MESH:C564931", "OMIM:258200", "Orphanet:2920", "SCTID:721017000", "UMLS:C1850320", "icd11.foundation:2072460929" ], "synonyms": [ "Oliver syndrome", "postaxial polydactyly-intellectual disability syndrome", "postaxial polydactyly and intellectual disability", "postaxial polydactyly and mental retardation" ], "definition": "Oliver syndrome is a very rare syndrome characterized by intellectual deficit, postaxial polydactyly, and epilepsy." }, "child_count": 0, "reference_id": "MONDO:0009777" }, { "id": 10990, "label": "lethal omphalocele-cleft palate syndrome", "isLeaf": true, "isRoot": false, "parents": [ 16087 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0004079", "MEDGEN:376757", "MESH:C537747", "OMIM:258320", "Orphanet:2736", "SCTID:719408007", "UMLS:C1850317" ], "synonyms": [ "Czeizel syndrome", "cleft palate-omphalocele syndrome, lethal", "omphalocele cleft palate syndrome lethal", "omphalocele-cleft palate syndrome, lethal" ], "definition": "Lethal omphalocele-cleft palate syndrome is characterized by the association of omphalocele and cleft palate. It has been described in three daughters of normal unrelated parents. They were all diagnosed at birth. One had omphalocele, posterior cleft palate, and uterus bicornuatus; she died at 2 months. The second had omphalocele, cleft uvula, and hydrocephalus and died at 4 months; the third had omphalocele and cleft palate and died at 1 year. This syndrome is likely to be inherited as an autosomal recessive condition." }, "child_count": 0, "reference_id": "MONDO:0009780" }, { "id": 11059, "label": "Peters plus syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370, 7019, 16087, 16198, 17976, 24272 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0070312", "DOID:0080201", "GARD:0008422", "ICD9:743.44", "MEDGEN:163204", "MESH:C537617", "NCIT:C123436", "OMIM:261540", "Orphanet:709", "SCTID:449817000", "UMLS:C0796012" ], "synonyms": [ "Krause-Kivlin syndrome", "Krause-van Schooneveld-Kivlin syndrome", "Peters anomaly with short limb dwarfism", "Peters-plus syndrome" ], "categories": [ { "ref": "MONDO:0002022", "name": "disorder of orbital region" }, { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0004995", "name": "cardiovascular disorder" }, { "ref": "MONDO:0024458", "name": "disorder of visual system" } ], "definition": "An autosomal recessively inherited syndromic developmental defect of the eye characterized by a variable phenotype including Peters anomaly and other anterior chamber eye anomalies, short limbs, limb abnormalities (i.e. rhizomelia and brachydactyly), characteristic facial features (upper lip with cupid bow, short palpebral fissures), cleft lip/palate, and mild to severe developmental delay/intellectual disability. Other associated abnormalities reported in some patients include congenital heart defects (i.e. hypoplastic left heart, absence of right pulmonary vein, bicuspid pulmonary valve), genitourinary anomalies (hydronephrosis, renal hypoplasia, renal and ureteral duplication, multicystic dysplastic kidneys, glomerulocystic kidneys) and congenital hypothyroidism." }, "child_count": 0, "reference_id": "MONDO:0009856" }, { "id": 11061, "label": "Pfeiffer-Palm-Teller syndrome", "isLeaf": true, "isRoot": false, "parents": [ 16087 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0004305", "MEDGEN:342366", "MESH:C537889", "OMIM:261560", "Orphanet:2871", "SCTID:726672000", "UMLS:C1849929" ], "synonyms": [ "Pfeiffer-Palm-Teller syndrome", "PPT syndrome", "Pfeiffer Palm Teller syndrome", "short stature unique facies enamel hypoplasia progressive joint stiffness and high-pitched voice", "short stature, unique facies, enamel hypoplasia, progressive Joint stiffness, and high-pitched voice" ], "definition": "Pfeiffer-Palm-Teller syndrome is a very rare dysmorphic syndrome described in two sibs and characterized by a short stature, unique facies, enamel hypoplasia, progressive joint stiffness, high-pitched voice, cup-shaped ears, and narrow palpebral fissures with epicanthal folds, and intellectual deficit." }, "child_count": 0, "reference_id": "MONDO:0009858" }, { "id": 11108, "label": "urban-Rogers-Meyer syndrome", "isLeaf": true, "isRoot": false, "parents": [ 16087 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0005426", "MEDGEN:162919", "MESH:C538276", "OMIM:264010", "Orphanet:3409", "SCTID:716334004", "UMLS:C0796189" ], "synonyms": [ "Prader-Willi habitus-osteopenia-camptodactyly syndrome", "intellectual disability-short stature-hand contractures-genital anomalies syndrome", "urban-Rogers-Meyer syndrome", "Prader-Willi habitus, osteopenia, and camptodactyly" ], "definition": "This syndrome is characterized by intellectual deficit, short stature, obesity, genital abnormalities, and hand and/or toe contractures. It has been described in two brothers and in one isolated case. The patients also present with generalized osteoporosis and a history of frequent fractures. This syndrome is similar to Prader-Willi syndrome, but the hand contractures and osteoporosis, together with the lack of hypotonia, indicate this is a different entity." }, "child_count": 0, "reference_id": "MONDO:0009905" }, { "id": 11113, "label": "Wiedemann-Rautenstrauch syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370, 16087, 16198, 16199, 19731, 24671, 24803 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0081333", "GARD:0000330", "ICD9:259.8", "MEDGEN:140806", "MESH:C536423", "NCIT:C121565", "NORD:1852", "OMIM:264090", "Orphanet:3455", "SCTID:238874008", "UMLS:C0406586" ], "synonyms": [ "Wiedemann Rautenstrauch Syndrome", "Wiedemann-Rautenstrauch syndrome", "neonatal progeroid syndrome", "Wiedemann Rautenstrauch syndrome", "progeroid syndrome neonatal", "progeroid syndrome, neonatal" ], "categories": [ { "ref": "MONDO:0002051", "name": "integumentary system disorder" }, { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "Wiedemann-Rautenstrauch syndrome is a very rare disorder with features of premature aging recognizable at birth, decreased subcutaneous fat, hypotrichosis, relative macrocephaly and dysmorphism." }, "child_count": 0, "reference_id": "MONDO:0009910" }, { "id": 11124, "label": "holoprosencephaly-postaxial polydactyly syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370, 16087 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0000344", "MEDGEN:340382", "MESH:C535829", "NCIT:C125418", "OMIM:264480", "Orphanet:2166", "SCTID:716091000", "UMLS:C1849649" ], "synonyms": [ "pseudo-trisomy 13 syndrome", "PSEUDOTRISOMY 13 syndrome", "Young-Maders syndrome", "holoprosencephaly polydactyly syndrome", "holoprosencephaly-polydactyly syndrome", "pseudo trisomy 13 syndrome" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "Holoprosencephaly-postaxial polydactyly syndrome associates, in chromosomally normal neonates, holoprosencephaly, severe facial dysmorphism, postaxial polydactyly and other congenital abnormalities, suggestive of trisomy 13." }, "child_count": 0, "reference_id": "MONDO:0009921" }, { "id": 11153, "label": "radioulnar synostosis-developmental delay-hypotonia syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4427, 6982, 16087, 18161, 18956 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0001810", "MEDGEN:341460", "MESH:C538217", "MESH:C564856", "OMIM:266255", "Orphanet:3270", "SCTID:721883006", "UMLS:C1849470" ], "synonyms": [ "Der Kaloustian-McIntosh-Silver syndrome", "radioulnar synostosis with developmental delay and hypotonia syndrome", "der Kaloustian mcintosh silver syndrome", "radioulnar synostosis, unilateral, with developintellectual disability and hypotonia", "radioulnar synostosis, unilateral, with developmental retardation and hypotonia", "unilateral radio-ulnar synostosis, generalised hypotonia, developintellectual disability, and a characteristic facial appearance", "unilateral radio-ulnar synostosis, generalised hypotonia, developmental retardation, and a characteristic facial appearance", "unilateral radio-ulnar synostosis, generalized hypotonia, developintellectual disability, and a characteristic facial appearance", "unilateral radio-ulnar synostosis, generalized hypotonia, developmental retardation, and a characteristic facial appearance" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "Radioulnar synostosis-developmental delay-hypotonia syndrome, also known as Der Kaloustian-McIntosh-Silver syndrome, is an extremely rare syndrome with synostosis described in about 4 patients to date with clinical manifestations including congenital unilateral radioulnar synostosis, generalized hypotonia, developmental delay, and dysmorphic facial features (long face, prominent nose and ears)." }, "child_count": 0, "reference_id": "MONDO:0009952" }, { "id": 11164, "label": "Ulbright-Hodes syndrome", "isLeaf": true, "isRoot": false, "parents": [ 16087 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0005394", "MEDGEN:376585", "MESH:C537754", "OMIM:266910", "Orphanet:3404", "SCTID:719840003", "UMLS:C1849438" ], "synonyms": [ "renal dysplasia-limb defects syndrome", "renal dysplasia-mesomelia-radiohumeral fusion syndrome", "RL syndrome", "Ulbright Hodes syndrome", "renal dysplasia limb defects syndrome", "renal dysplasia, mesomelia, and radiohumeral fusion" ], "definition": "Ulbright-Hodes syndrome is characterized by renal dysplasia, growth retardation, phocomelia or mesomelia, radiohumeral fusion, rib abnormalities, anomalies of the external genitalia and a potter-like facies. The syndrome has been described in three infants (one pair of sibs and an unrelated case), all of whom died shortly after birth from respiratory distress resulting from pulmonary hypoplasia and oligohydramnios caused by renal dysplasia. The mode of transmission appears to be autosomal recessive." }, "child_count": 0, "reference_id": "MONDO:0009963" }, { "id": 11202, "label": "microbrachycephaly-ptosis-cleft lip syndrome", "isLeaf": true, "isRoot": false, "parents": [ 16087 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0003596", "MEDGEN:162914", "OMIM:268850", "Orphanet:2511", "UMLS:C0796142" ], "synonyms": [ "Richieri Costa-Guion Almeida-Ramos syndrome", "Richieri-COSTA/Guion-Almeida syndrome", "microbrachycephaly ptosis cleft lip", "sao Paulo MCA/Mr syndrome", "short stature, intellectual disability, eye anomalies, and cleft Lip/palate", "short stature, mental retardation, eye anomalies, and cleft Lip/palate" ], "definition": "Microbrachycephaly-ptosis-cleft lip syndrome is characterized by the association of intellectual deficit, microbrachycephaly, hypotelorism, palpebral ptosis, a thin/long face, cleft lip, and anomalies of the lumbar vertebra, sacrum and pelvis. It has been described in two Brazilian sisters. Transmission appears to be autosomal recessive." }, "child_count": 0, "reference_id": "MONDO:0010007" }, { "id": 11228, "label": "Smith-Lemli-Opitz syndrome", "isLeaf": true, "isRoot": false, "parents": [ 7019, 16087, 16607, 23513 ], "type_id": 0, "properties": { "xrefs": [ "DOID:14692", "GARD:0005683", "ICD10CM:E78.72", "ICD9:759.89", "MEDGEN:61231", "MESH:D019082", "NANDO:1200961", "NANDO:2200979", "NCIT:C85071", "NORD:1724", "OMIM:270400", "Orphanet:818", "SCTID:43929004", "UMLS:C0175694", "icd11.foundation:1231469858" ], "synonyms": [ "7-dehydrocholesterol reductase deficiency", "RSH syndrome", "Rutledge lethal multiple congenital anomaly syndrome", "SLO syndrome", "SLOS", "Smith-Lemli-Opitz syndrome", "Smith Lemli Opitz syndrome", "lethal acrodysgenital syndrome", "polydactyly, sex reversal, renal hypoplasia, and unilobar lung", "polydactyly, sex reversal, renal hypoplasia, and unilobular lung" ], "categories": [ { "ref": "MONDO:0002022", "name": "disorder of orbital region" }, { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0024458", "name": "disorder of visual system" } ], "definition": "Smith-Lemli-Opitz syndrome (SLOS) is characterized by multiple congenital anomalies, intellectual deficit, and behavioral problems." }, "child_count": 0, "reference_id": "MONDO:0010035" }, { "id": 11232, "label": "congenital heart defect-round face-developmental delay syndrome", "isLeaf": true, "isRoot": false, "parents": [ 16087 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0004905", "MEDGEN:167108", "MESH:C536680", "OMIM:270460", "Orphanet:1355", "SCTID:715987000", "UMLS:C0796162" ], "synonyms": [ "Sonoda syndrome", "round face with depressed nasal Bridge and small mouth, congenital heart defect, and retarded development" ], "definition": "Heart defect B round face B congenital developmental delay is very rare syndrome described in three sibs of one Japanese family and characterized by congenital heart disease, round face with depressed nasal bridge, small mouth, short stature, and relatively dark skin and typical dermatoglyphic anomalies, and intellectual deficit." }, "child_count": 0, "reference_id": "MONDO:0010039" }, { "id": 11279, "label": "Filippi syndrome", "isLeaf": true, "isRoot": false, "parents": [ 16087, 24804 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0112194", "GARD:0000062", "MEDGEN:163197", "MESH:C538152", "NORD:1149", "OMIM:272440", "Orphanet:3255", "SCTID:720954000", "UMLS:C0795940", "icd11.foundation:1989471300" ], "synonyms": [ "Filippi syndrome", "type 1 syndactyly-microcephaly-intellectual disability syndrome", "FILIPPI syndrome", "FLPIS", "Scott craniodigital syndrome with intellectual disability", "Scott craniodigital syndrome with mental retardation", "syndactyly type I with microcephaly and intellectual disability", "syndactyly type I with microcephaly and mental retardation", "syndactyly, type I, with microcephaly and intellectual disability", "syndactyly, type I, with microcephaly and mental retardation", "unusual facial appearance, microcephaly, growth and intellectual disability and syndactyly", "unusual facial appearance, microcephaly, growth and mental retardation and syndactyly" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" } ], "definition": "Filippi syndrome is characterized by microcephaly, cutaneous syndactyly of the fingers and toes, intellectual deficit, growth retardation and a characteristic facies (high and broad nasal bridge, thin alae nasi, micrognathia and a high frontal hairline). So far, less than 25 cases have been reported. Cryptorchidism, polydactyly, and teeth and hair anomalies may also be present. Transmission is autosomal recessive." }, "child_count": 0, "reference_id": "MONDO:0010092" }, { "id": 11308, "label": "upper limb defect-eye and ear abnormalities syndrome", "isLeaf": true, "isRoot": false, "parents": [ 16087 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0016602", "MEDGEN:376448", "MESH:C564769", "OMIM:274205", "Orphanet:2489", "UMLS:C1848816" ], "synonyms": [ "thumb, hypoplastic, with choroid coloboma, poorly developed antihelix, and deafness" ], "definition": "Upper limb defect - eye and ear abnormalities syndrome associates upper limb defects (hypoplastic thumb with hypoplasia of the metacarpal bone and phalanges and delayed bone maturation), developmental delay, central hearing loss, unilateral poorly developed antihelix, bilateral choroid coloboma and growth retardation." }, "child_count": 0, "reference_id": "MONDO:0010125" }, { "id": 11375, "label": "Weaver syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370, 16087, 18360, 19480 ], "type_id": 0, "properties": { "xrefs": [ "DOID:14731", "GARD:0007878", "GTR:AN0102079", "GTR:AN0102080", "ICD9:759.89", "MEDGEN:120511", "MESH:C536687", "NANDO:1200659", "NANDO:2200957", "NCIT:C125599", "NORD:1839", "OMIM:277590", "Orphanet:3447", "SCTID:63119004", "UMLS:C0265210", "icd11.foundation:2042913723" ], "synonyms": [ "Weaver syndrome", "camptodactyly-overgrowth-unusual facies syndrome", "EZH2 related overgrowth", "WEAVER syndrome", "WVS", "Weaver Smith syndrome", "Weaver Williams syndrome", "Weaver like syndrome", "Weaver-Smith syndrome", "Weaver-like syndrome", "camptodactyly - overgrowth - unusual facies", "intellectual disability, microcephaly, weight deficiency, unusual facies, clinodactyly, bone hypoplasia, and cleft palate", "mental retardation, microcephaly, weight deficiency, unusual facies, clinodactyly, bone hypoplasia, and cleft palate", "overgrowth syndrome with accelerated skeletal maturation, unusual facies, and camptodactyly" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "Weaver syndrome (WVS) is a rare, multisystem disorder characterized by tall stature, a typical facial appearance (hypertelorism, retrognathia) and variable intellectual disability. Additional features may include camptodactyly, soft doughy skin, umbilical hernia, and a low hoarse cry." }, "child_count": 0, "reference_id": "MONDO:0010193" }, { "id": 11383, "label": "intellectual disability, Wolff type", "isLeaf": true, "isRoot": false, "parents": [ 2961, 4427, 16087 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0003530", "MEDGEN:336345", "MESH:C537448", "OMIM:277990", "Orphanet:3080", "UMLS:C1848439" ], "synonyms": [ "Wolff-Zimmermann syndrome", "WOLFF intellectual disability syndrome", "WOLFF mental retardation syndrome" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "Intellectual disability, Wolff type is a rare intellectual disability syndrome characterized by severe intellectual disability, characteristic facial features (low anterior hairline, upward slanting palpebral fissures, ocular hypertelorism, broad, bulbous nose, large ears with helix incompletely developed, thick lips, and micrognathia) and additional anomalies including peripheral joint contractures, delayed skeletal maturation, bilateral cleft lip and palate, strabismus, terminal hypoplasia of fingers, hypospadias, and bilateral inguinal hernias." }, "child_count": 0, "reference_id": "MONDO:0010203" }, { "id": 11399, "label": "CHIME syndrome", "isLeaf": true, "isRoot": false, "parents": [ 16087, 16198, 16607, 17977, 19138, 21415, 24272 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0112152", "GARD:0000310", "MEDGEN:341214", "MESH:C536729", "OMIM:280000", "Orphanet:3474", "SCTID:720639008", "UMLS:C1848392" ], "synonyms": [ "CHIME syndrome", "PIGL-CDG", "Zunich-Kaye syndrome", "coloboma-congenital heart disease-ichthyosiform dermatosis-intellectual disability-ear anomalies syndrome", "congenital disorder of glycosylation due to PIGL deficiency", "neuroectodermal dysplasia, CHIME type", "neuroectodermal syndrome, Zunich type", "CHIME", "Zunich neuroectodermal syndrome", "coloboma, congenital heart disease, ichthyosiform dermatosis, intellectual disability, and ear anomalies syndrome", "coloboma, congenital heart disease, ichthyosiform dermatosis, mental retardation, and ear anomalies syndrome", "glycosylphosphatidylinositol biosynthesis defect 5" ], "categories": [ { "ref": "MONDO:0002051", "name": "integumentary system disorder" }, { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0004995", "name": "cardiovascular disorder" }, { "ref": "MONDO:0024458", "name": "disorder of visual system" } ], "definition": "CHIME syndrome is a rare ectodermal dysplasia syndrome characterized by ocular colobomas, cardiac defects, ichthyosiform dermatosis, intellectual disability, conductive hearing loss and epilepsy." }, "child_count": 0, "reference_id": "MONDO:0010221" }, { "id": 11414, "label": "X-linked intellectual disability-plagiocephaly syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4427, 16087, 16201, 19742 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0002765", "MEDGEN:419824", "MESH:C537512", "OMIM:300064", "Orphanet:2898", "SCTID:719812008", "UMLS:C2931516" ], "synonyms": [ "Hyde Forster-McCarthy-Berry syndrome", "Hyde Forster McCarthy Berry syndrome", "intellectual disability, X-linked Hyde-Forster type", "intellectual disability, X-linked, Hyde-Forster type", "intellectual disability, X-linked, with craniofacial dysmorphism", "intellectual disability, plagiocephaly, brachycephaly, prominent forehead, and coarse facial features", "mental retardation, X-linked Hyde-Forster type", "mental retardation, X-linked, Hyde-Forster type", "mental retardation, X-linked, with craniofacial dysmorphism", "mental retardation, plagiocephaly, brachycephaly, prominent forehead, and coarse facial features", "plagiocephaly and X-linked intellectual disability", "plagiocephaly and X-linked mental retardation" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "X-linked intellectual disability-plagiocephaly syndrome is characterized by severe intellectual deficit, brachycephaly, plagiocephaly, prominent forehead and coarse facial features. It has been described in two males from one family. Two females belonging to the same family displayed moderate intellectual deficit but no craniofacial dysmorphism." }, "child_count": 0, "reference_id": "MONDO:0010237" }, { "id": 11444, "label": "syndromic X-linked intellectual disability 7", "isLeaf": true, "isRoot": false, "parents": [ 4427, 16087, 19742 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0060808", "GARD:0009156", "MEDGEN:337403", "MESH:C537449", "OMIM:300218", "Orphanet:85274", "SCTID:719160009", "UMLS:C1846170" ], "synonyms": [ "MRXS7", "X-linked intellectual disability, Ahmad type", "intellectual disability, X-linked syndromic 7", "syndromic X-linked intellectual disability type 7", "Ahmad X-linked intellectual disability syndrome", "Ahmad X-linked mental retardation syndrome", "intellectual disability X-linked syndromic 7", "intellectual disability, X-linked, syndromic 7", "intellectual disability, obesity, hypogonadism, and tapering fingers", "mental retardation X-linked syndromic 7", "mental retardation, X-linked, syndromic 7", "mental retardation, obesity, hypogonadism, and tapering fingers" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "Syndromic X-linked intellectual disability 7, also called MRXS7, is characterized by X-linked intellectual deficit, obesity, hypogonadism, and tapering fingers." }, "child_count": 0, "reference_id": "MONDO:0010270" }, { "id": 11450, "label": "syndromic X-linked intellectual disability Shashi type", "isLeaf": true, "isRoot": false, "parents": [ 4427, 16087, 19742 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0060826", "GARD:0004119", "MEDGEN:335348", "MESH:C537135", "OMIM:300238", "Orphanet:85286", "SCTID:718900002", "UMLS:C1846145" ], "synonyms": [ "MRXS11", "SMRXS", "Shashi X-linked intellectual disability syndrome", "Shashi X-linked mental retardation syndrome", "X-linked intellectual disability Shashi type", "intellectual developmental disorder, syndromic 11, Shashi type, X-linked recessive", "intellectual disability, X-linked, syndromic 11, Shashi type", "syndromic X-linked intellectual disability type 11", "X-linked intellectual disability, Shashi type", "intellectual disability X-linked Shashi type", "intellectual disability X-linked syndromic 11", "intellectual disability, X-linked, Shashi type", "intellectual disability, X-linked, syndromic 11", "mental retardation X-linked Shashi type", "mental retardation X-linked syndromic 11", "mental retardation, X-linked, Shashi type", "mental retardation, X-linked, syndromic 11" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "X-linked intellectual disability, Shashi type is characterized by moderate intellectual deficit, obesity, macroorchidism and a characteristic facies (large ears, a prominent lower lip and puffy eyelids). It has been described in nine boys from two families. Transmission is X-linked and the causative gene has been localized to the q21.3-q27 region of the X chromosome." }, "child_count": 0, "reference_id": "MONDO:0010277" }, { "id": 11456, "label": "syndromic X-linked intellectual disability Lubs type", "isLeaf": false, "isRoot": false, "parents": [ 4427, 16087, 17413, 19742 ], "type_id": 0, "properties": { "xrefs": [ "DECIPHER:45", "DOID:0060799", "GARD:0009781", "ICD9:758.89", "MEDGEN:337496", "MESH:C537723", "NANDO:2200984", "NCIT:C126747", "OMIM:300260", "Orphanet:1762", "SCTID:702816000", "UMLS:C1846058" ], "synonyms": [ "Lubs X-linked intellectual disability syndrome", "Lubs X-linked mental retardation syndrome", "MECP2 duplication syndrome", "MRXSL", "Xq28 (MECP2) duplication", "distal duplication Xq", "intellectual developmental disorder, X-linked syndromic, Lubs type, X-linked recessive", "intellectual disability, X-linked, syndromic, Lubs type", "intellectual disability, X-linked, with recurrent respiratory infections", "mental retardation, X-linked, with recurrent respiratory infections", "syndromic X-linked intellectual disability Lubs type", "telomeric duplication Xq", "Lubs X-linked intellectual disability syndrome (formerly)", "Lubs X-linked mental retardation syndrome (formerly)", "MECP2 Duplication syndrome", "XLMR syndrome, Lubs type", "intellectual disability, X-linked, Lubs type (formerly)", "mental retardation, X-linked, Lubs type (formerly)", "trisomy Xq28" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "Distal Xq duplications refer to chromosomal disorders resulting from involvement of the long arm of the X chromosome (Xq). Clinical manifestations vary widely depending on the gender of the patient and on the gene content of the duplicated segment. The prevalence of Xq duplications remains unknown." }, "child_count": 4, "reference_id": "MONDO:0010283" }, { "id": 11458, "label": "syndromic X-linked intellectual disability Abidi type", "isLeaf": true, "isRoot": false, "parents": [ 4427, 16087, 19742 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0060818", "GARD:0009157", "MEDGEN:337376", "MESH:C535556", "OMIM:300262", "Orphanet:85273", "UMLS:C1846056" ], "synonyms": [ "MRXSAB", "intellectual disability, X-linked syndromic, Abidi type", "ABIDI X-linked intellectual disability syndrome", "ABIDI X-linked mental retardation syndrome", "X-linked intellectual disability, Abidi type", "intellectual disability X-linked Abidi type", "intellectual disability, X-linked, syndromic, Abidi type", "mental retardation, X-linked, syndromic, Abidi type", "short stature, small head circumference, sloping forehead, hearing loss, cupped ears and small testes" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "X-linked intellectual disability, Abidi type is characterized by X-linked intellectual deficit and mild variable manifestations, including short stature, small head circumference, sloping forehead, hearing loss, abnormally shaped ears, and small testes. It has been described in eight affected males from three generations." }, "child_count": 0, "reference_id": "MONDO:0010285" }, { "id": 11459, "label": "syndromic X-linked intellectual disability Siderius type", "isLeaf": true, "isRoot": false, "parents": [ 4427, 16087, 19742 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0060812", "GARD:0009704", "MEDGEN:337375", "MESH:C537333", "OMIM:300263", "Orphanet:85287", "UMLS:C1846055" ], "synonyms": [ "MRXSSD", "Siderius X-linked intellectual disability syndrome", "Siderius X-linked mental retardation syndrome", "Siderius-Hamel syndrome", "intellectual developmental disorder, X-linked, syndromic, Siderius type, X-linked recessive", "intellectual disability syndrome, X-linked, Siderius type", "syndromic X-linked intellectual disability Siderius type", "Siderius Hamel syndrome", "X-linked intellectual disability Hamel type", "X-linked intellectual disability, Siderius type", "X-linked mental retardation Hamel type", "intellectual deficit X-linked Siderius type", "intellectual disability X-linked Siderius type", "intellectual disability, X-linked, syndromic, Siderius type", "mental retardation X-linked Siderius type", "mental retardation, X-linked, syndromic, Siderius type" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ] }, "child_count": 0, "reference_id": "MONDO:0010286" }, { "id": 11475, "label": "creatine transporter deficiency", "isLeaf": true, "isRoot": false, "parents": [ 2918, 16087, 16198 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0050800", "GARD:0001608", "ICD9:758.81", "MEDGEN:337451", "MESH:C535598", "NANDO:1201035", "NANDO:2201301", "NCIT:C125665", "NORD:1966", "OMIM:300352", "Orphanet:52503", "SCTID:698290008", "UMLS:C1845862" ], "synonyms": [ "SLC6A8 deficiency", "cerebral creatine deficiency syndrome 1", "cerebral creatine deficiency syndrome 1, X-linked recessive", "cerebral creatine deficiency syndrome type 1", "creatine transporter deficiency", "CCDS1", "X-linked creatine deficiency", "X-linked creatine deficiency syndrome", "X-linked creatine transporter deficiency", "creatine deficiency syndrome, X-linked", "creatine deficiency, X-linked", "creatine transporter defect", "intellectual disability, X-linked with seizures, short stature and midface hypoplasia", "intellectual disability, X-linked, with creatine Transport deficiency", "intellectual disability, X-linked, with creatine transport deficiency", "intellectual disability, X-linked, with seizures, short stature, and midface hypoplasia", "mental retardation, X-linked with seizures, short stature and midface hypoplasia", "mental retardation, X-linked, with creatine Transport deficiency", "mental retardation, X-linked, with creatine transport deficiency", "mental retardation, X-linked, with seizures, short stature, and midface hypoplasia" ], "definition": "X-linked creatine transporter deficiency (CRTR-D) is a creatine deficiency syndrome characterized clinically by global developmental delay/ intellectual disability (DD/ID) with prominent speech/language delay, autistic behavior and seizures." }, "child_count": 0, "reference_id": "MONDO:0010305" }, { "id": 11476, "label": "X-linked intellectual disability, Cabezas type", "isLeaf": true, "isRoot": false, "parents": [ 4427, 16087, 19742 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0060822", "GARD:0013244", "MEDGEN:337334", "OMIM:300354", "Orphanet:85293", "SCTID:719811001", "UMLS:C1845861" ], "synonyms": [ "Cabezas syndrome", "Cabezas syndrome; syndromic X-linked intellectual disability 15", "MRSS", "MRXS15", "MRXSC", "X-linked intellectual disability with short stature", "X-linked intellectual disability with short stature, hypogonadism, and abnormal gait", "X-linked intellectual disability, Cabezas type", "intellectual disability, X-linked, syndromic 15 (Cabezas type)", "intellectual disability, X-linked, with short stature", "mental retardation, X-linked, syndromic 15 (Cabezas type), X-linked recessive", "mental retardation, X-linked, with short stature", "syndromic X-linked intellectual disability Cabezas type", "Cabezas type of X-linked syndromic intellectual disability", "Cul4B-related X-linked intellectual disability", "intellectual disability, X-linked, syndromic 15", "intellectual disability, X-linked, syndromic, Cabezas type", "intellectual disability, X-linked, with short stature, hypogonadism, and abnormal Gait", "mental retardation, X-linked, syndromic 15", "mental retardation, X-linked, syndromic, Cabezas type", "mental retardation, X-linked, with short stature, hypogonadism, and abnormal Gait" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "X-linked intellectual disability, Cabezas type is characterized by intellectual deficit, muscle wasting, short stature, a prominent lower lip, small testes, kyphosis and joint hyperextensibility. An abnormal gait, tremor, decreased fine motor coordination and impaired speech are also present. The syndrome has been described in six boys from three generations of the same family. Transmission is X-linked and the causative gene has been localized to the q24-q25 region of the X chromosome." }, "child_count": 0, "reference_id": "MONDO:0010306" }, { "id": 11501, "label": "X-linked intellectual disability-cubitus valgus-dysmorphism syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4427, 16087, 19742 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0016745", "MEDGEN:1801270", "MESH:C564510", "OMIM:300471", "Orphanet:85280", "UMLS:C5677056" ], "synonyms": [ "Cubitus valgus with mental retardation and unusual facies, X-linked recessive", "cubitus valgus with intellectual disability and unusual facies", "cubitus valgus with mental retardation and unusual facies" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "An X-linked syndromic intellectual disability characterized by moderate intellectual deficit, marked cubitus valgus, mild microcephaly, a short philtrum, deep-set eyes, downslanting palpebral fissures and multiple nevi. Less than ten individuals have been described so far. Transmission is thought to be X-linked recessive." }, "child_count": 0, "reference_id": "MONDO:0010332" }, { "id": 11522, "label": "syndromic X-linked intellectual disability Claes-Jensen type", "isLeaf": true, "isRoot": false, "parents": [ 4427, 16087, 19742 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0060809", "GARD:0016744", "MEDGEN:335139", "MESH:C564494", "OMIM:300534", "Orphanet:85279", "SCTID:719161008", "UMLS:C1845243" ], "synonyms": [ "MRXSCJ", "MRXSJ", "intellectual developmental disorder, X-linked syndromic, Claes-Jensen type, X-linked recessive", "intellectual disability, X-linked, syndromic, Claes-Jensen type", "mental retardation, X-linked, syndromic, Claes-Jensen type", "syndromic X-linked intellectual disability Claes-Jensen type", "syndromic X-linked intellectual disability JARID1C-related", "intellectual disability, X-linked, syndromic, JARID1C-related", "mental retardation, X-linked, syndromic, JARID1C-related" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ] }, "child_count": 0, "reference_id": "MONDO:0010355" }, { "id": 11588, "label": "chromosome Xp11.23-p11.22 duplication syndrome", "isLeaf": true, "isRoot": false, "parents": [ 16087, 17412 ], "type_id": 0, "properties": { "xrefs": [ "DECIPHER:89", "DOID:0060461", "GARD:0012766", "MEDGEN:440690", "MESH:C567585", "OMIM:300801", "Orphanet:217377", "SCTID:721881008", "UMLS:C2749022" ], "synonyms": [ "Xp11.22-p11.23 Microduplication", "chromosome Xp11.23-p11.22 duplication syndrome", "chromosome xp11.23-p11.22 duplication syndrome, X-linked dominant" ], "definition": "A form of methylmalonic acidemia with homocystinuria (see this term), an inborn error of vitamin B12 (cobalamin) metabolism characterized by megaloblastic anemia, lethargy, failure to thrive, developmental delay, intellectual deficit and seizures." }, "child_count": 0, "reference_id": "MONDO:0010428" }, { "id": 11643, "label": "X-linked colobomatous microphthalmia-microcephaly-intellectual disability-short stature syndrome", "isLeaf": true, "isRoot": false, "parents": [ 2902, 16087, 16704 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0111811", "GARD:0017709", "MEDGEN:813072", "OMIM:300915", "Orphanet:431140", "UMLS:C3806742" ], "synonyms": [ "X-linked colobomatous microphthalmia-microcephaly-short stature-psychomotor retardation syndrome", "microphthalmia, syndromic type 13", "MCOPS13", "Maine microphthalmos", "colobomatous microphthalmia with microcephaly, short stature, and psychomotor retardation", "microphthalmia, syndromic 13" ], "categories": [ { "ref": "MONDO:0002022", "name": "disorder of orbital region" }, { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0024458", "name": "disorder of visual system" } ], "definition": "X-linked colobomatous microphthalmia-microcephaly-intellectual disability-short stature syndrome is a rare syndromic microphthalmia disorder characterized by microphthalmia with coloboma (which may involve the iris, cilary body, choroid, retina and/or optic nerve), microcephaly, short stature and intellectual disability. Other eye abnormalities such as pendular nystagmus, esotropia and ptosis may also be present. Additional associated abnormalities include kyphoscoliosis, anteverted pinnae with minimal convolutions, diastema of the incisors and congenital pes varus." }, "child_count": 0, "reference_id": "MONDO:0010485" }, { "id": 11648, "label": "SSR4-congenital disorder of glycosylation", "isLeaf": true, "isRoot": false, "parents": [ 7156, 16087, 16198, 17973 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0080574", "GARD:0012405", "MEDGEN:860832", "OMIM:300934", "Orphanet:370927", "SCTID:733115009", "UMLS:C4012395" ], "synonyms": [ "CDG syndrome type Iy", "CDG-Iy", "CDG1Y", "SSR4-CDG", "SSR4-congenital disorder of glycosylation", "carbohydrate deficient glycoprotein syndrome type Iy", "congenital disorder of glycosylation type 1y", "congenital disorder of glycosylation type Iy", "congenital disorder of glycosylation, type Iy, X-linked recessive", "CDG 1Y", "CDG Iy", "CDGIy", "congenital disorder of glycosylation, type Iy" ], "definition": "A form of congenital disorders of N-linked glycosylation characterized by neurologic abnormalities (global developmental delay in language, social skills and fine and gross motor development, intellectual disability, hypotonia, microcephaly, seizures/epilepsy), facial dysmorphism (deep set eyes, large ears, hypoplastic vermillion of upper lip, large mouth with widely spaced teeth), feeding problems often due to chewing difficulties and aversion to food with certain textures, failure to thrive, gastrointestinal abnormalities (reflux or vomiting) and strabismus. The disease is caused by mutations in the gene SSR4(Xq28)." }, "child_count": 0, "reference_id": "MONDO:0010490" }, { "id": 11654, "label": "X-linked intellectual disability-short stature-overweight syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4427, 16087, 19742 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0112056", "GARD:0017800", "MEDGEN:901885", "OMIM:300957", "Orphanet:457240", "UMLS:C0796218" ], "synonyms": [ "intellectual developmental disorder, X-linked 12, X-linked recessive", "intellectual disability, X-linked type 12", "mental retardation, X-linked type 12", "MRX12", "intellectual disability, X-linked 12", "intellectual disability, X-linked 35", "mental retardation, X-linked 12", "mental retardation, X-linked 35" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "X-linked intellectual disability-short stature-overweight syndrome is a multiple congenital anomalies syndrome characterized by borderline to severe intellectual disability, speech delay, short stature, elevated body mass index, a pattern of truncal obesity (reported in older males), and variable neurologic features (e.g. hypotonia, tremors, gait disturbances, behavioral problems, and seizure disorders). Less common manifestations include microcephaly, microorchidism and/or microphallus. Dysmorphic features have been reported in some patients but no consistent pattern has been noted." }, "child_count": 0, "reference_id": "MONDO:0010496" }, { "id": 11658, "label": "intellectual disability, X-linked, syndromic 33", "isLeaf": true, "isRoot": false, "parents": [ 4427, 16087, 19742 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0024731", "MEDGEN:895979", "OMIM:300966", "Orphanet:480907", "UMLS:C4225418" ], "synonyms": [ "MRXS33", "TAF1 X-linked syndromic intellectual disability", "X-linked intellectual disability-global development delay-facial dysmorphism-sacral caudal remnant syndrome", "X-linked syndromic intellectual disability caused by mutation in TAF1", "intellectual developmental disorder, X-linked syndromic 33, X-linked recessive", "intellectual disability, X-linked, syndromic type 33", "mental retardation, X-linked, syndromic 33", "mental retardation, X-linked, syndromic type 33" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "Any X-linked syndromic intellectual disability in which the cause of the disease is a mutation in the TAF1 gene." }, "child_count": 0, "reference_id": "MONDO:0010500" }, { "id": 11659, "label": "syndromic X-linked intellectual disability 34", "isLeaf": true, "isRoot": false, "parents": [ 4427, 16087, 19742 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0060817", "GARD:0017832", "MEDGEN:902184", "OMIM:300967", "Orphanet:466791", "UMLS:C4225417" ], "synonyms": [ "MRXS34", "MRXSML", "NONO X-linked syndromic intellectual disability", "X-linked syndromic intellectual disability caused by mutation in NONO", "intellectual developmental disorder, X-linked syndromic 34", "intellectual disability, X-linked, syndromic 34", "intellectual disability, X-linked, syndromic type 34", "macrocephaly-intellectual disability-left ventricular non compaction syndrome", "mental retardation, X-linked, syndromic 34", "mental retardation, X-linked, syndromic type 34", "syndromic X-linked intellectual disability Mircsof-Langouet type", "syndromic X-linked intellectual disability type 34", "intellectual disability, X-linked, syndromic, Mircsof-Langouet type", "mental retardation, X-linked, syndromic, Mircsof-Langouet type" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "Macrocephaly-intellectual disability-left ventricular non compaction syndrome is a rare, genetic, syndromic intellectual disability characterized by motor and cognitive developmental delay with language impairment, macrocephaly, hypotonia, dysmorphic facial features (including long face, slanting palpebral fissures and prominent, flattened nose) and left ventricular noncompaction cardiomyopathy. Patients also present skeletal abnormalities (e.g. scoliosis, finger clinodactyly, pes planus), slender build and shy behavior. Strabismus and various neurological signs (including ataxia, tremor and hyperreflexia) may be associated, as well as epilepsy, autism and MRI findings showing a small cerebellum and abnormalities of the corpus callosum. A phenotypic variant with no cardiac involvement has been reported." }, "child_count": 0, "reference_id": "MONDO:0010501" }, { "id": 11663, "label": "intellectual disability-balding-patella luxation-acromicria syndrome", "isLeaf": true, "isRoot": false, "parents": [ 16087, 19473 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0000257", "MEDGEN:401129", "MESH:C536638", "OMIM:300977", "Orphanet:3041", "SCTID:722002002", "UMLS:C1866985" ], "synonyms": [ "SHLTS", "Scholte syndrome", "Scholte-Begeer-van Essen syndrome", "SCHOLTE syndrome", "early balding, patella luxation, acromicria and hypogonadism", "early balding, patella luxation, acromicria, and hypogonadism" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" } ], "definition": "Intellectual disability-balding-patella luxation-acromicria syndrome is characterized by severe intellectual deficit, patella luxations, acromicria, hypogonadism, facial dysmorphism (including midface hypoplasia and premature frontotemporal balding). It has been described in three unrelated males." }, "child_count": 0, "reference_id": "MONDO:0010505" }, { "id": 11728, "label": "syndromic X-linked intellectual disability 5", "isLeaf": true, "isRoot": false, "parents": [ 4427, 16087, 19709, 19742 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0060800", "GARD:0008520", "MEDGEN:162924", "NCIT:C124839", "OMIM:304340", "Orphanet:1568", "Orphanet:85329", "SCTID:719139003", "UMLS:C0796254" ], "synonyms": [ "MRX59", "MRXS21", "Pettigrew syndrome", "Pettigrew syndrome, X-linked recessive", "X-linked intellectual disability 59", "X-linked intellectual disability-Dandy-Walker malformation-basal ganglia disease-seizures syndrome", "X-linked intellectual disability-hypotonia-facial dysmorphism-aggressive behavior syndrome", "X-linked intellectual disability-hypotonia-facial dysmorphism-aggressive behaviour syndrome", "intellectual disability, X-linked syndromic 5", "syndromic X-linked intellectual disability 21", "syndromic X-linked intellectual disability fried type", "syndromic X-linked intellectual disability type 5", "Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizures", "MRXS5", "PETTIGREW syndrome", "PGS", "X-linked intellectual disability - Dandy-Walker malformation - basal ganglia disease - seizures", "fried syndrome", "intellectual disability X-linked syndromic 5", "intellectual disability X-linked with Dandy-Walker malformation basal ganglia disease and seizures", "intellectual disability, X-linked 59", "intellectual disability, X-linked, syndromic 21", "intellectual disability, X-linked, syndromic 5", "intellectual disability, X-linked, syndromic, fried type", "intellectual disability, X-linked, with Dandy-Walker malformation, basal ganglia disease, and seizures", "mental retardation X-linked syndromic 5", "mental retardation X-linked with Dandy-Walker malformation basal ganglia disease and seizures", "mental retardation, X-linked 59", "mental retardation, X-linked, syndromic 21", "mental retardation, X-linked, syndromic 5", "mental retardation, X-linked, syndromic, fried type", "mental retardation, X-linked, with Dandy-Walker malformation, basal ganglia disease, and seizures" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "X-linked Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizures (XDIBS), or Pettigrew syndrome is a central nervous system malformation characterized by severe intellectual deficit, early hypotonia with progression to spasticity and contractures, choreoathetosis, seizures, dysmorphic face (long face with prominent forehead), and brain imaging abnormalities such as Dandy-Walker malformation, and iron deposition." }, "child_count": 0, "reference_id": "MONDO:0010574" }, { "id": 11764, "label": "male hypergonadotropic hypogonadism-intellectual disability-skeletal anomalies syndrome", "isLeaf": true, "isRoot": false, "parents": [ 16087 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0004899", "MEDGEN:334557", "MESH:C564406", "OMIM:307500", "Orphanet:2234", "SCTID:722459008", "UMLS:C1843994" ], "synonyms": [ "Sohval-Soffer syndrome", "hypogonadism, MALE, with intellectual disability and skeletal anomalies", "hypogonadism, MALE, with mental retardation and skeletal anomalies" ], "definition": "This syndrome is characterized by hypergonadotropic hypogonadism, intellectual deficit, congenital skeletal anomalies involving the cervical spine and superior ribs, and diabetes mellitus." }, "child_count": 0, "reference_id": "MONDO:0010617" }, { "id": 11801, "label": "X-linked intellectual disability with marfanoid habitus", "isLeaf": true, "isRoot": false, "parents": [ 4427, 16087, 23760 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0080985", "GARD:0003307", "MEDGEN:167096", "MESH:C537724", "OMIM:309520", "Orphanet:776", "SCTID:422437002", "UMLS:C0796022" ], "synonyms": [ "Lujan syndrome", "Lujan-Fryns syndrome", "Lujan-Fryns syndrome, X-linked recessive", "LUJAN-Fryns syndrome", "Marfanoid habitus, mild general hypotonia, hypernasal voice, normal testicular size and distinct craniofacial anomalies", "intellectual disability, X-linked, with Marfanoid habitus", "mental retardation, X-linked, with Marfanoid habitus" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "The Lujan-Fryns syndrome or X-linked mental retardation (XLMR) with marfanoid habitus syndrome is a syndromic X-linked form of intellectual disability, associated with tall, marfanoid stature, distinct facial dysmorphism and behavioral problems." }, "child_count": 0, "reference_id": "MONDO:0010655" }, { "id": 11830, "label": "N syndrome", "isLeaf": true, "isRoot": false, "parents": [ 16087, 16218 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0050769", "GARD:0003902", "MEDGEN:424834", "MESH:C536108", "OMIM:310465", "Orphanet:2608", "SCTID:723410002", "UMLS:C2936859", "icd11.foundation:2040480507" ], "synonyms": [ "N syndrome", "NSX", "intellectual disability, malformations, chromosome breakage, and development of T-cell leukaemia", "intellectual disability, malformations, chromosome breakage, and development of T-cell leukemia", "mental retardation, malformations, chromosome breakage, and development of T-cell leukaemia", "mental retardation, malformations, chromosome breakage, and development of T-cell leukemia" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "N syndrome is characterized by intellectual deficit, deafness, ocular anomalies, T-cell leukemia, cryptorchidism, hypospadias and spasticity." }, "child_count": 0, "reference_id": "MONDO:0010686" }, { "id": 11971, "label": "pterygium colli-intellectual disability-digital anomalies syndrome", "isLeaf": true, "isRoot": false, "parents": [ 16087 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0004568", "MEDGEN:374001", "MESH:C535831", "OMIM:600159", "Orphanet:2988", "SCTID:719256004", "UMLS:C1838562" ], "synonyms": [ "khalifa-Graham syndrome", "pterygium colli and intellectual disability with facial and digital anomalies", "pterygium colli and mental retardation with facial and digital anomalies", "pterygium colli intellectual disability digital anomalies", "pterygium colli mental retardation digital anomalies" ], "definition": "Pterygium colli-intellectual disability-digital anomalies syndrome is characterized by pterygium colli, digital anomalies (abnormal small thumbs, widened interphalangeal joints, and broad terminal phalanges), and craniofacial abnormalities (brachycephaly, epicanthic folds, angulated eyebrows, upward slanting of the palpebral fissures, ptosis, hypertelorism, and prominent low-set, posteriorly rotated ears). It has been described in a woman and her son, but the manifestations were much less severe in the mother. The son also had intellectual deficit. The inheritance is either X-linked dominant or autosomal dominant." }, "child_count": 0, "reference_id": "MONDO:0010835" }, { "id": 11986, "label": "Lowry-MacLean syndrome", "isLeaf": true, "isRoot": false, "parents": [ 7019, 16087, 16201 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0003300", "MEDGEN:167095", "MESH:C537037", "OMIM:600252", "Orphanet:2409", "SCTID:721974000", "UMLS:C0796020", "icd11.foundation:698387769" ], "synonyms": [ "Lowry-MacLean syndrome", "Lowry MacLean syndrome", "intellectual disability, cleft palate, eventration of diaphragm, congenital heart defect, glaucoma, craniosynostosis and growth failure", "mental retardation, cleft palate, eventration of diaphragm, congenital heart defect, glaucoma, craniosynostosis and growth failure" ], "categories": [ { "ref": "MONDO:0002022", "name": "disorder of orbital region" }, { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0024458", "name": "disorder of visual system" } ], "definition": "Lowry-MacLean syndrome is a very rare syndrome characterized by microcephaly, craniosynostosis, glaucoma, growth failure and visceral malformations." }, "child_count": 0, "reference_id": "MONDO:0010851" }, { "id": 11993, "label": "macrocephaly-spastic paraplegia-dysmorphism syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4427, 16087, 18959 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0016598", "MEDGEN:373933", "MESH:C563963", "OMIM:600302", "Orphanet:2429", "SCTID:716108004", "UMLS:C1838281" ], "synonyms": [ "Fryns macrocephaly", "macrocephaly with spastic paraplegia and distinctive craniofacial appearance" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "Macrocephaly-spastic paraplegia-dysmorphism syndrome is a rare syndrome of multiple congenital anomalies characterized by macrocephaly (of post-natal onset) with large anterior fontanelle, progressive complex spastic paraplegia, dysmorphic facial features (broad and high forehead, deeply set eyes, short philtrum with thin upper lip, large mouth and prominent incisors), seizures, and intellectual deficit of varying severity. Inheritance appears to be autosomal recessive." }, "child_count": 0, "reference_id": "MONDO:0010858" }, { "id": 11999, "label": "pseudoaminopterin syndrome", "isLeaf": true, "isRoot": false, "parents": [ 16087, 16201 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0004544", "MEDGEN:163196", "MESH:C535823", "OMIM:600325", "Orphanet:221120", "SCTID:715867000", "UMLS:C0795939", "icd11.foundation:893045173" ], "synonyms": [ "ASSA", "aminopterin syndrome-like sine aminopterin", "pseudoaminopterin syndrome", "aminopterin syndrome sine aminopterin" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "Pseudoaminopterin syndrome is a developmental anomalies syndrome that resembles the aminopterin embryopathy without history of fetal exposure to aminopterin. It is characterized by skull (craniosynostosis and poorly mineralized cranial vault), dysmorphic (ocular hypertelorism, palpebral fissure anomalies, micrognathia cleft lip and/or high arched palate and small and low set/rotated ears) and limb (brachydactyly, syndactyly and clinodactyly) anomalies, associated with mild-to-moderate intellectual deficit and short stature." }, "child_count": 0, "reference_id": "MONDO:0010865" }, { "id": 12024, "label": "acrocardiofacial syndrome", "isLeaf": true, "isRoot": false, "parents": [ 16087 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0070419", "GARD:0001167", "MEDGEN:324947", "MESH:C563936", "OMIM:600460", "Orphanet:2008", "UMLS:C1838121", "icd11.foundation:976844546" ], "synonyms": [ "ACFS", "CCGE syndrome", "acrocardiofacial syndrome", "cleft palate-cardiac defect-genital anomalies-ectrodactyly syndrome", "CCGE", "cleft palate, CARDIAC defect, genital anomalies, and ectrodactyly" ], "definition": "Acro-cardio-facial syndrome (ACFS) is a rare genetic disorder characterized by split-hand/split-foot malformation (SHFM), facial anomalies, cleft lip/palate, congenital heart defect (CHD), genital anomalies, and intellectual deficit." }, "child_count": 0, "reference_id": "MONDO:0010890" }, { "id": 12119, "label": "Ayme-Gripp syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370, 5714, 16087 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0111688", "GARD:0024765", "MEDGEN:371416", "MESH:C563390", "OMIM:601088", "Orphanet:477668", "UMLS:C1832812" ], "synonyms": [ "Ayme-Gripp syndrome", "AYGRP", "AYME-Gripp syndrome", "Aymé-Gripp syndrome", "cataracts, congenital, with sensorineural deafness, Down syndrome-like Facial appearance, short stature, and intellectual disability", "cataracts, congenital, with sensorineural deafness, Down syndrome-like Facial appearance, short stature, and mental retardation" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ] }, "child_count": 0, "reference_id": "MONDO:0010992" }, { "id": 12120, "label": "Harrod syndrome", "isLeaf": true, "isRoot": false, "parents": [ 16087 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0002601", "MEDGEN:162895", "MESH:C535635", "OMIM:601095", "Orphanet:2115", "SCTID:716089008", "UMLS:C0795970" ], "synonyms": [ "Harrod syndrome", "cranio-facio-digito-genital syndrome", "Harrod Doman Keele syndrome", "craniofacial digital genital anomalies" ], "definition": "Harrod syndrome is characterized by the association of intellectual deficit, facial dysmorphism (a highly arched palate, pointed chin, and small mouth, hypotelorism, a long nose and large protruding ears), arachnodactyly, hypogenitalism (undescended testes and hypospadias) and failure to thrive." }, "child_count": 0, "reference_id": "MONDO:0010993" }, { "id": 12125, "label": "fallot complex-intellectual disability-growth delay syndrome", "isLeaf": true, "isRoot": false, "parents": [ 16087 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0000893", "MEDGEN:322025", "MESH:C536608", "OMIM:601127", "Orphanet:3304", "SCTID:723336008", "UMLS:C1832735" ], "synonyms": [ "Bindewald-Ulmer-Müller syndrome", "Bindewald Ulmer Muller syndrome", "FALLOT complex with severe mental and growth retardation" ], "definition": "Fallot complex - intellectual deficit - growth delay is a rare disorder characterized by tetralogy of Fallot, minor facial anomalies, and severe intellectual deficiency and growth delay." }, "child_count": 0, "reference_id": "MONDO:0010999" }, { "id": 12171, "label": "MMEP syndrome", "isLeaf": true, "isRoot": false, "parents": [ 16087, 16704 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0111803", "GARD:0003693", "MEDGEN:330469", "MESH:C537686", "OMIM:601349", "Orphanet:3434", "SCTID:715533002", "UMLS:C1832440" ], "synonyms": [ "MCOPS8", "Viljoen-Smart syndrome", "microcephaly-microphthalmia-ectrodactyly of lower limbs-prognathism syndrome", "syndromic microphthalmia type 8", "MMEP", "Viljoen Smart syndrome", "microcephaly microphthalmia ectrodactyly of lower limbs and prognathism", "microcephaly, microphthalmia, ectrodactyly of Lower limbs, and prognathism", "microphthalmia syndromic 8", "microphthalmia, syndromic 8" ], "categories": [ { "ref": "MONDO:0002022", "name": "disorder of orbital region" }, { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0024458", "name": "disorder of visual system" } ], "definition": "A congenital syndromic form of split-hand/foot malformation (SHFM). It is characterized by microcephaly, microphthalmia, ectrodactyly of the lower limbs and prognathism. Intellectual deficit has been reported. MMEP syndrome is considered to be a very rare condition, although the exact prevalence remains unknown. The etiology is not completely understood. Disruption of the sorting nexin 3 gene (SNX3; 6q21) has been shown to play a causative role in MMEP, although this was not confirmed in recent studies." }, "child_count": 0, "reference_id": "MONDO:0011045" }, { "id": 12174, "label": "epilepsy-microcephaly-skeletal dysplasia syndrome", "isLeaf": true, "isRoot": false, "parents": [ 16087 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0000836", "MEDGEN:330468", "OMIM:601352", "Orphanet:1948", "UMLS:C1832437" ], "synonyms": [ "Battaglia-Neri syndrome", "epilepsy - microcephaly - skeletal dysplasia", "intellectual disability, microcephaly, epilepsy, and coarse face", "mental retardation, microcephaly, epilepsy, and coarse face" ], "definition": "Epilepsy-microcephaly-skeletal dysplasia syndrome is characterized by the association of moderate to severe intellectual deficit, microcephaly, epilepsy, coarse face, hirsutism and skeletal abnormalities (scoliosis and retarded bone development). It has been described only once, in two sibs (one male and one female). This syndrome is likely to be an autosomal recessive condition and thus parents should be informed of a 25% risk of recurrence for other children." }, "child_count": 0, "reference_id": "MONDO:0011048" }, { "id": 12175, "label": "Fine-Lubinsky syndrome", "isLeaf": true, "isRoot": false, "parents": [ 16087 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0000958", "MEDGEN:163198", "MESH:C537933", "OMIM:601353", "Orphanet:1272", "SCTID:720955004", "UMLS:C0795941" ], "synonyms": [ "brachycephaly-deafness-cataract-intellectual disability syndrome", "fine-Lubinsky syndrome", "brachycephaly, deafness, cataract and intellectual disability", "brachycephaly, deafness, cataract and mental retardation", "brachycephaly, deafness, cataract, microstomia, and intellectual disability", "brachycephaly, deafness, cataract, microstomia, and mental retardation" ], "definition": "A syndrome characterized by psychomotor delay, brachycephaly with flat face, small nose, microstomia, cleft palate, cataract, hearing loss, hypoplastic scrotum and digital anomalies." }, "child_count": 0, "reference_id": "MONDO:0011049" }, { "id": 12179, "label": "intellectual disability-sparse hair-brachydactyly syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4427, 16087, 24323, 24515 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0081441", "GARD:0000270", "MEDGEN:220983", "MESH:C536116", "OMIM:601358", "Orphanet:3051", "SCTID:401046009", "UMLS:C1303073" ], "synonyms": [ "Nicolaides-Baraitser syndrome", "SMARCA2-related BAFopathy", "intellectual disability-sparse hair-brachydactyly syndrome", "NBs", "NCBRS", "NICOLAIDES-Baraitser syndrome", "sparse hair and intellectual disability", "sparse hair and mental retardation" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "Intellectual disability-sparse hair-brachydactyly syndrome is a very rare condition of unknown etiology consisting of short stature, hypotrichosis, brachydactyly with cone-shaped epiphyses, epilepsy and severe mental delay. After the initial delineation of this syndrome by Nicolaides and Baraitser in 1993, only five more patients were published in the literature up to now." }, "child_count": 0, "reference_id": "MONDO:0011053" }, { "id": 12267, "label": "colobomatous microphthalmia - obesity - hypogenitalism - intellectual disability syndrome", "isLeaf": true, "isRoot": false, "parents": [ 16087 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0017575", "MEDGEN:400954", "MESH:C566623", "OMIM:601794", "Orphanet:363741", "UMLS:C1866256" ], "synonyms": [ "coloboma-obesity-hypogenitalism-intellectual disability syndrome", "coloboma-obesity-hypogenitalism-mental retardation syndrome" ] }, "child_count": 0, "reference_id": "MONDO:0011145" }, { "id": 12334, "label": "Pierpont syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4427, 16087, 19144, 24323 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0081362", "GARD:0017885", "MEDGEN:356049", "MESH:C566559", "OMIM:602342", "Orphanet:487825", "UMLS:C1865644" ], "synonyms": [ "Pierpont syndrome", "plantar lipomatosis-facial dysmorphism-developmental delay syndrome", "plantar lipomatosis-unusual facies-developmental delay syndrome", "PIERPONT syndrome", "PRPTS", "plantar lipomatosis, unusual facies, and developmental delay" ], "categories": [ { "ref": "MONDO:0002051", "name": "integumentary system disorder" }, { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "Pierpont syndrome is a rare subcutaneous tissue disorder characterized by axial hypotonia after birth, prolonged feeding difficulties, moderate to severe global developmental delay, seizures (in particular absence seizures), fetal digital pads, distinctive plantar fat pads anteromedial to the heels, deep palmar and plantar grooves. Additionally, distinct craniofacial dysmorphic features, notably a broad face with high forehead, high anterior hairline, narrow palpebral fissures that take on a crescent moon shape when smiling, broad nasal bridge and tip with anteverted nostrils, mild midfacial hypoplasia, long, smooth philtrum, thin upper lip vermillion, small, widely spaced teeth and flat occiput/microcephaly/brachycephaly, are also chararteristic. Over time, fat pads may become less prominent and disappear." }, "child_count": 0, "reference_id": "MONDO:0011213" }, { "id": 12507, "label": "congenital cataracts-facial dysmorphism-neuropathy syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4427, 16087, 17364, 19713 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0016645", "ICD9:759.89", "MEDGEN:346973", "MESH:C565822", "OMIM:604168", "Orphanet:48431", "SCTID:702433001", "UMLS:C1858726" ], "synonyms": [ "CCFDN", "congenital cataracts-facial dysmorphism-neuropathy syndrome", "cataract, congenital, with Facial Dysmorphism and neuropathy", "congenital cataracts, facial dysmorphism, and neuropathy" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "Congenital Cataracts Facial Dysmorphism Neuropathy (CCFDN) syndrome is a complex developmental disorder of autosomal recessive inheritance." }, "child_count": 0, "reference_id": "MONDO:0011402" }, { "id": 12610, "label": "Bohring-Opitz syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4427, 16087, 24323 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0010140", "MEDGEN:208678", "MESH:C537419", "NCIT:C131533", "NORD:1981", "OMIM:605039", "Orphanet:97297", "SCTID:720565000", "UMLS:C0796232" ], "synonyms": [ "Bohring syndrome", "Bohring-Opitz syndrome", "Bos syndrome", "C-like syndrome", "Oberklaid-Danks syndrome", "Opitz trigonocephaly-like syndrome", "BOHRING-Opitz syndrome", "BOPS" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "Bohring-Opitz syndrome is characterized by intrauterine growth retardation (IUGR), failure to thrive, facial dysmorphism (prominent metopic suture and forehead nevus flammeus, a low frontal and temporal hairline with hirsutism, puffy cheeks, upslanting palpebral fissures, exophthalmos, hypertelorism, cleft lip and palate, retrognathia and low set ears), flexion deformities of the elbows and wrists, camptodactyly, ulnar deviation of the fingers, foot anomalies and severe developmental delay. Less than 20 patients have been described so far. Although the large majority of reported cases occurred sporadically, autosomal recessive inheritance has also been reported." }, "child_count": 0, "reference_id": "MONDO:0011510" }, { "id": 12617, "label": "Wiedemann-Steiner syndrome", "isLeaf": true, "isRoot": false, "parents": [ 5714, 16087 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0005565", "MEDGEN:340266", "MESH:C536704", "NORD:150898", "OMIM:605130", "Orphanet:319182", "UMLS:C1854630" ], "synonyms": [ "Wiedemann-Steiner syndrome", "hypertrichosis-short stature-facial dysmorphism-developmental delay syndrome", "A syndrome of abnormal facies, short stature, and psychomotor retardation", "WDSTS", "Wiedemann Grosse Dibbern syndrome", "hairy elbows, short stature, Facial Dysmorphism, and developmental delay" ], "definition": "Wiedemann-Steiner syndrome is a rare genetic condition characterized by distinctive facial features, hairy elbows, short stature, and intellectual disability. This condition is caused by changes (mutations) in the KMT2A gene (also known as the MLL gene). It is inherited in an autosomal dominant manner. Most cases result from new (de novo) mutations that occur only in an egg or sperm cell, or just after conception. Treatment is symptomatic and supportive and may include special education classes and speech and occupational therapies aimed at increasing motor functioning and language." }, "child_count": 0, "reference_id": "MONDO:0011518" }, { "id": 12671, "label": "cerebrooculonasal syndrome", "isLeaf": true, "isRoot": false, "parents": [ 16087 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0003480", "MEDGEN:340138", "MESH:C565313", "OMIM:605627", "Orphanet:66625", "SCTID:720855003", "UMLS:C1854108" ], "synonyms": [ "cerebrooculonasal syndrome" ], "definition": "Cerebro-oculo-nasal syndrome is a multisystem malformation syndrome that has been reported in about 10 patients. The clinical features include bilateral anophthalmia, abnormal nares, central nervous system anomalies, and neurodevelopmental delay." }, "child_count": 0, "reference_id": "MONDO:0011575" }, { "id": 12735, "label": "genitopatellar syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370, 16087, 18360, 18362 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0010994", "ICD9:759.89", "MEDGEN:381208", "MESH:C565255", "OMIM:606170", "Orphanet:85201", "SCTID:702367005", "UMLS:C1853566" ], "synonyms": [ "absent patellae-scrotal hypoplasia-renal anomalies-facial dysmorphism-intellectual disability syndrome", "genitopatellar syndrome", "GENITOPATELLAR syndrome", "GTPTS", "absent patellae, scrotal hypoplasia, renal anomalies, Facial Dysmorphism, and intellectual disability", "absent patellae, scrotal hypoplasia, renal anomalies, Facial Dysmorphism, and mental retardation" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "Genitopatellar syndrome is a rare congenital patellar anomaly syndrome characterized by patellar aplasia or hypoplasia associated with microcephaly, characteristic coarse facial features (microcephaly, bitemporal narrowing, large, broad nose with high nasal bridge, prominent cheeks and micro/retrognathia or prognathism), arthrogryposis of the hips and knees, urogenital abnormalities and intellectual deficiency." }, "child_count": 0, "reference_id": "MONDO:0011640" }, { "id": 12809, "label": "intellectual disability-obesity-prognathism-eye and skin anomalies syndrome", "isLeaf": true, "isRoot": false, "parents": [ 16087 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0017648", "MEDGEN:376145", "MESH:C564660", "OMIM:606772", "Orphanet:397973", "UMLS:C1847522" ], "synonyms": [ "MOMES syndrome", "Momes syndrome", "intellectual disability, obesity, mandibular prognathism, and eye and skin anomalies", "mental retardation, obesity, mandibular prognathism, and eye and skin anomalies" ] }, "child_count": 0, "reference_id": "MONDO:0011722" }, { "id": 13161, "label": "intellectual disability-brachydactyly-Pierre Robin syndrome", "isLeaf": true, "isRoot": false, "parents": [ 5714, 16087, 18362, 18956 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0017583", "MEDGEN:325196", "MESH:C563880", "OMIM:608670", "Orphanet:364577", "UMLS:C1837564" ], "synonyms": [ "ROBIN sequence with distinctive facial appearance and brachydactyly" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" } ], "definition": "Intellectual disability-brachydactyly-Pierre Robin syndrome is a rare developmental defect during embryogenesis characterized by mild to moderate intellectual disability and phsychomotor delay, Robin sequence (incl. severe micrognathia and soft palate cleft) and distinct dysmorphic facial features (e.g. synophris, short palpebral fissures, hypertelorism, small, low-set, and posteriorly angulated ears, bulbous nose, long/flat philtrum, and bow-shaped upper lip). Skeletal anomalies, such as brachydactyly, clinodactyly, small hands and feet, and oral manifestations (e.g. bifid, short tongue, oligodontia) are also associated. Additional features reported include microcephaly, capillary hemangiomas on face and scalp, ventricular septal defect, corneal clouding, nystagmus and profound sensorineural deafness." }, "child_count": 0, "reference_id": "MONDO:0012095" }, { "id": 13165, "label": "AICA-ribosiduria", "isLeaf": true, "isRoot": false, "parents": [ 4427, 16087, 16198, 19100, 19765 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0013781", "MEDGEN:332474", "MESH:C563876", "OMIM:608688", "Orphanet:250977", "SCTID:725289009", "UMLS:C1837530" ], "synonyms": [ "5-amino-4-imidazole carboxamide ribosiduria", "AICA-ribosiduria due to ATIC deficiency", "ATIC deficiency", "AICAR transformylase/IMP cyclohydrolase deficiency", "Aica-Ribosuria due to Atic deficiency", "Atic deficiency" ], "categories": [ { "ref": "MONDO:0002022", "name": "disorder of orbital region" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" }, { "ref": "MONDO:0024458", "name": "disorder of visual system" } ], "definition": "AICA-ribosiduria is an extremely severe inborn error of purine biosynthesis characterized clinically in the single reported case to date by profound intellectual deficit, epilepsy, dysmorphic features of the knees, elbows, and shoulders and congenital blindness." }, "child_count": 0, "reference_id": "MONDO:0012099" }, { "id": 13338, "label": "Goldberg-Shprintzen syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370, 5714, 16087, 20415 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0060481", "GARD:0009849", "MEDGEN:332131", "MESH:C537279", "OMIM:609460", "Orphanet:66629", "SCTID:717822006", "UMLS:C1836123", "icd11.foundation:1750921468" ], "synonyms": [ "GOSHS", "Goldberg-Shprintzen megacolon syndrome", "Goldberg-Shprintzen syndrome", "megacolon-microcephaly syndrome" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0004335", "name": "digestive system disorder" } ], "definition": "A multiple malformation syndrome characterized by Hirschprung megacolon with microcephaly, hypertelorism, submucous cleft palate, short stature and learning disability." }, "child_count": 0, "reference_id": "MONDO:0012280" }, { "id": 13450, "label": "complex cortical dysplasia with other brain malformations 7", "isLeaf": true, "isRoot": false, "parents": [ 3180, 16087, 16761 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0090132", "GARD:0017375", "MEDGEN:765150", "OMIM:610031", "Orphanet:300573", "UMLS:C3552236" ], "synonyms": [ "CDCBM7", "TUBB2B complex cortical dysplasia with other brain malformations", "complex cortical dysplasia with other brain malformations caused by mutation in TUBB2B", "complex cortical dysplasia with other brain malformations type 7", "polymicrogyria due to TUBB2B mutation", "PMGYSA", "cortical dysplasia, COMPLEX, with OTHER brain malformations 7", "cortical dysplasia, Complex, with Other brain malformations 7", "polymicrogyria, symmetric or asymmetric" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "Any complex cortical dysplasia with other brain malformations in which the cause of the disease is a mutation in the TUBB2B gene." }, "child_count": 0, "reference_id": "MONDO:0012399" }, { "id": 13505, "label": "Kleefstra syndrome", "isLeaf": false, "isRoot": false, "parents": [ 5714, 16087 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0080597", "GARD:0008672", "MEDGEN:1684615", "NANDO:1200959", "NORD:184097", "OMIMPS:610253", "Orphanet:261494", "UMLS:C4551771", "icd11.foundation:1997337437" ], "synonyms": [ "9Q subtelomeric deletion syndrome", "9Q- syndrome", "9q-syndrome", "9q34 deletion syndrome", "9q34.3 microdeletion syndrome", "Kleefstra syndrome", "chromosome 9Q34.3 deletion syndrome", "chromosome 9q deletion syndrome" ], "definition": "A genetic disorder characterized by intellectual disability, childhood hypotonia, severe expressive speech delay and a distinctive facial appearance with a spectrum of additional clinical features." }, "child_count": 6, "reference_id": "MONDO:0012455" }, { "id": 13545, "label": "Koolen-de Vries syndrome", "isLeaf": false, "isRoot": false, "parents": [ 5714, 16087 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0010727", "MEDGEN:355853", "NORD:91169", "OMIM:610443", "Orphanet:96169", "UMLS:C1864871" ], "synonyms": [ "KANSL1-related intellectual disability syndrome", "KDVS", "KdVS", "Koolen de Vries syndrome", "Koolen-De Vries syndrome", "chromosome 17q21.31 deletion syndrome", "microdeletion 17q21.31 syndrome", "17q21.31 deletion syndrome", "Koolen-DE Vries syndrome", "chromosome 17Q21.31 deletion syndrome", "chromosome 17q21.31 microdeletion syndrome", "microdeletion 17Q21.31 syndrome" ], "definition": "A chromosomal anomaly characterized by developmental delay, childhood hypotonia, facial dysmorphism, and a friendly/amiable behavior." }, "child_count": 4, "reference_id": "MONDO:0012496" }, { "id": 13556, "label": "agammaglobulinemia-microcephaly-craniosynostosis-severe dermatitis syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4075, 16087, 16974 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0010011", "MEDGEN:351236", "MESH:C538055", "OMIM:610483", "Orphanet:83617", "SCTID:722281001", "UMLS:C1864848" ], "synonyms": [ "agammaglobulinemia, microcephaly, and severe dermatitis" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0005046", "name": "immune system disorder" }, { "ref": "MONDO:0005570", "name": "hematologic disorder" } ], "definition": "A syndrome that combines agammaglobulinemia with marked microcephaly, significant developmental delay, craniosynostosis, a severe dermatitis, cleft palate, narrowing of the choanae, and blepharophimosis. It has been described in three siblings, two males and one female, born to nonconsanguineous parents. Transmission is probably autosomal recessive. It has been suggested that this syndrome represents a new form of agammaglobulinemia due to a defect in early B-cell maturation." }, "child_count": 0, "reference_id": "MONDO:0012508" }, { "id": 13564, "label": "mandibulofacial dysostosis-microcephaly syndrome", "isLeaf": true, "isRoot": false, "parents": [ 2903, 16087, 18363 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0080196", "GARD:0010056", "MEDGEN:355264", "MESH:C537405", "OMIM:610536", "Orphanet:79113", "SCTID:711543008", "UMLS:C1864652" ], "synonyms": [ "MFDM syndrome", "mandibulofacial dysostosis with microcephaly", "mandibulofacial dysostosis, Guion-Almeida type", "mandibulofacial dysostosis-microcephaly syndrome", "Growth and intellectual disability, mandibulofacial dysostosis, microcephaly, and cleft palate", "Growth and mental retardation, mandibulofacial dysostosis, microcephaly, and cleft palate", "Growth delay - intellectual disability - mandibulofacial dysostosis - microcephaly - cleft palate", "Growth delay-intellectual disability-mandibulofacial dysostosis-microcephaly-cleft palate syndrome", "MFDGA", "MFDM" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" } ], "definition": "Mandibulofacial dysostosis-microcephaly syndrome is a rare genetic multiple malformation disorder characterized by malar and mandibular hypoplasia, microcephaly, ear malformations with associated conductive hearing loss, distinctive facial dysmorphism, developmental delay, and intellectual disability." }, "child_count": 0, "reference_id": "MONDO:0012516" }, { "id": 13799, "label": "camptodactyly syndrome, Guadalajara type 3", "isLeaf": true, "isRoot": false, "parents": [ 2728, 16087, 18362 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0010573", "MEDGEN:394371", "MESH:C567455", "OMIM:611929", "Orphanet:488434", "UMLS:C2677809" ], "synonyms": [ "camptodactyly syndrome Guadalajara type 3", "camptodactyly syndrome, Guadalajara, type 3", "camptodactyly syndrome, Guadalajara, type III" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" } ], "definition": "Camptodactyly syndrome, Guadalajara type 3 is a rare, genetic bone development disorder characterized by hand camptodactyly associated with facial dysmorphism (flat face, hypertelorism, telecanthus, symblepharon, simplified ears, retrognathia) and neck anomalies (short neck with stricking pterygia, muscle sclerosis). Additional features include spinal defects (e.g. cervical and dorso-lumbar spina bifida occulta), congenital shortness of the sternocleidomastoid muscle, flexed wrists and thin hands and feet. Brain structural anomalies, multiple nevi, micropenis and mild intellectual disability are also observed. Imaging reveals increased bone traveculae, cortical thickening of long bones and delayed bone age." }, "child_count": 0, "reference_id": "MONDO:0012759" }, { "id": 13814, "label": "chromosome 15q13.3 microdeletion syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4427, 16087, 17332 ], "type_id": 0, "properties": { "xrefs": [ "DECIPHER:74", "DOID:0060394", "GARD:0010296", "MEDGEN:393784", "MESH:C567439", "OMIM:612001", "Orphanet:199318", "SCTID:699254009", "UMLS:C2677613" ], "synonyms": [ "15q13.3 microdeletion syndrome", "Del(15)(q13.3)", "chromosome 15q13.3 microdeletion syndrome", "monosomy 15q13.3", "15q13.3 microdeletion", "chromosome 15q13.3 deletion syndrome", "microdeletion 15q13.3 syndrome" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "15q13.3 microdeletion (microdel15q13.3) syndrome is characterized by a wide spectrum of neurodevelopmental disorders with no or subtle dysmorphic features." }, "child_count": 0, "reference_id": "MONDO:0012774" }, { "id": 13988, "label": "chromosome 6pter-p24 deletion syndrome", "isLeaf": true, "isRoot": false, "parents": [ 12243, 16087, 17312 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0060422", "GARD:0016845", "MEDGEN:393396", "MESH:C567239", "OMIM:612582", "Orphanet:96125", "SCTID:718688008", "UMLS:C2675486" ], "synonyms": [ "6p subtelomeric deletion syndrome", "6p25 microdeletion syndrome", "chromosome 6pter-p24 deletion syndrome", "chromosome 6pter-p24 deletion syndrome, isolated cases", "distal deletion 6p", "distal monosomy type 6p", "monosomy 6p25" ], "categories": [ { "ref": "MONDO:0002022", "name": "disorder of orbital region" }, { "ref": "MONDO:0024458", "name": "disorder of visual system" } ], "definition": "Distal monosomy 6p is responsible for a distinct chromosome deletion syndrome with a recognizable clinical picture including intellectual deficit, ocular abnormalities, hearing loss, and facial dysmorphism." }, "child_count": 0, "reference_id": "MONDO:0012948" }, { "id": 14074, "label": "Zechi-Ceide syndrome", "isLeaf": true, "isRoot": false, "parents": [ 16087 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0010582", "MEDGEN:416693", "MESH:C567865", "OMIM:612916", "Orphanet:217017", "UMLS:C2752047" ], "synonyms": [ "Zechi-Ceide syndrome", "occipital atretic cephalocele-unusual facies-large feet syndrome", "Zechi Ceide syndrome", "occipital atretic cephalocele, unusual facies and large feet", "occipital atretic cephalocele, unusual facies, and large feet" ] }, "child_count": 0, "reference_id": "MONDO:0013036" }, { "id": 14128, "label": "chromosome 19q13.11 deletion syndrome", "isLeaf": false, "isRoot": false, "parents": [ 16087, 17335 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0060408", "GARD:0010592", "MEDGEN:414432", "MESH:C567810", "Orphanet:217346", "SCTID:719599008", "UMLS:C2751651" ], "synonyms": [ "19q13.11 microdeletion syndrome", "Del(19)(q13.11)", "monosomy 19q13.11", "chromosome 19Q13.11 deletion syndrome, distal", "chromosome 19q13.11 deletion syndrome, distal" ], "definition": "The 19q13.11 microdeletion is characterized by several major features including pre and postnatal growth retardation, slender habitus, severe postnatal feeding difficulties, microcephaly, intellectual deficit with speech disturbance, hypospadias and ectodermal dysplasia presented by scalp aplasia, thin and sparse hair, eyebrows and eyelashes, thin and dry skin and dysplasic nails." }, "child_count": 4, "reference_id": "MONDO:0013090" }, { "id": 14205, "label": "chromosome 5p13 duplication syndrome", "isLeaf": true, "isRoot": false, "parents": [ 16087, 17358 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0060460", "GARD:0017505", "MEDGEN:416385", "MESH:C567717", "OMIM:613174", "Orphanet:329802", "UMLS:C2750805" ], "synonyms": [ "5p13 microduplication syndrome", "chromosome 5p13 duplication syndrome", "chromosome 5p13 duplication syndrome, isolated cases", "dup(5)(p13)", "trisomy 5p13" ], "definition": "5p13 microduplication syndrome is a rare partial autosomal trisomy/tetrasomy characterized by global developmental delay, intellectual disability, autistic behavior, muscular hypotonia, macrocephaly and facial dysmorphism (frontal bossing, short palpebral fissures, low set, dysplastic ears, short or shallow philtrum, high arched or narrow palate, micrognathia). Other associated clinical features include sleep disturbances, seizures, aplasia/hypoplasia of the corpus callosum, skeletal abnormalities (large hands and feet, long fingers and toes, talipes)." }, "child_count": 0, "reference_id": "MONDO:0013169" }, { "id": 14218, "label": "chromosome 17p13.3 duplication syndrome", "isLeaf": true, "isRoot": false, "parents": [ 16087, 17365 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0060432", "GARD:0017122", "MEDGEN:814630", "MESH:C567705", "OMIM:613215", "Orphanet:217385", "SCTID:719582007", "UMLS:C3808300" ], "synonyms": [ "17p13.3 duplication syndrome", "17p13.3 microduplication syndrome", "dup(17)(p13.3)", "trisomy 17p13.3", "chromosome 17p13.3, centromeric, DUPLICATION syndrome" ], "definition": "17p13.3 microduplication syndrome is characterized by variable psychomotor delay and dysmorphic features." }, "child_count": 0, "reference_id": "MONDO:0013182" }, { "id": 14281, "label": "syndromic multisystem autoimmune disease due to ITCH deficiency", "isLeaf": true, "isRoot": false, "parents": [ 5714, 16087 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0010775", "MEDGEN:461999", "NANDO:2200739", "OMIM:613385", "Orphanet:228426", "UMLS:C3150649", "icd11.foundation:1970749000" ], "synonyms": [ "syndromic multisystem autoimmune disease due to ITCH deficiency", "ADMFD", "ITCH E3 ubiquitin ligase deficiency", "autoimmune disease, multisystem, with facial dysmorphism", "autoimmune disease, syndromic multisystem", "syndromic multisystem autoimmune disease" ] }, "child_count": 0, "reference_id": "MONDO:0013245" }, { "id": 14292, "label": "chromosome 15q24 deletion syndrome", "isLeaf": true, "isRoot": false, "parents": [ 5714, 16087, 17332 ], "type_id": 0, "properties": { "xrefs": [ "DECIPHER:66", "DOID:0060395", "GARD:0012219", "MEDGEN:462024", "MESH:C579849", "OMIM:613406", "Orphanet:94065", "SCTID:699308002", "UMLS:C3150674" ], "synonyms": [ "15q24 microdeletion syndrome", "15q24 recurrent microdeletion syndrome", "Del(15)(q24)", "chromosome 15q24 deletion syndrome", "monosomy 15q24", "WITKOS", "Witteveen-Kolk syndrome", "chromosome 15Q24 Duplication syndrome" ], "definition": "15q24 microdeletion syndrome is a rare chromosomal anomaly characterized cytogenetically by a 1.7-6.1 Mb deletion in chromosome 15q24 and clinically by pre- and post-natal growth retardation, intellectual disability, distinct facial features, and genital, skeletal, and digital anomalies." }, "child_count": 0, "reference_id": "MONDO:0013256" }, { "id": 14333, "label": "chromosome 17q21.31 duplication syndrome", "isLeaf": true, "isRoot": false, "parents": [ 16087, 17380 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0060434", "GARD:0017121", "MEDGEN:901723", "OMIM:613533", "Orphanet:217340", "SCTID:716683005", "UMLS:C4274345" ], "synonyms": [ "17q21.31 microduplication syndrome", "chromosome 17q21.31 duplication syndrome", "dup(17)(q21.31)", "trisomy 17q21.31" ], "definition": "The newly described 17q21.31 microduplication syndrome is associated with a broad clinical spectrum, of which behavioral disorders and poor social interaction seem to be the most consistent." }, "child_count": 0, "reference_id": "MONDO:0013298" }, { "id": 14371, "label": "chromosome 19p13.13 deletion syndrome", "isLeaf": true, "isRoot": false, "parents": [ 16087, 17318 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0060426", "GARD:0017542", "MEDGEN:462244", "OMIM:613638", "Orphanet:357001", "SCTID:764440006", "UMLS:C3150894" ], "synonyms": [ "Del(19)(p13.13)", "chromosome 19p13.13 deletion syndrome", "monosomy 19p13.13", "19p13.13 microdeletion syndrome", "chromosome 19P13.13 Duplication syndrome" ], "definition": "19p13.13 microdeletion syndrome is a rare partial autosomal monosomy characterized by global developmental delay, moderate intellectual disability, macrocephaly, overgrowth, hypotonia, and facial dysmorphism (frontal bossing, down-slanting palpebral fissures). Other associated features variably include ataxia, seizures, ventriculomegaly, ocular abnormalities (strabismus, optic nerve hypoplasia) and gastrointestinal problems (abdominal pain, vomiting, constipation)." }, "child_count": 0, "reference_id": "MONDO:0013336" }, { "id": 14395, "label": "THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome", "isLeaf": true, "isRoot": false, "parents": [ 5714, 16087 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0017558", "MEDGEN:462289", "OMIM:613680", "Orphanet:363444", "UMLS:C3150939" ], "synonyms": [ "BBIS", "Beaulieu-Boycott-Innes syndrome", "BEAULIEU-BOYCOTT-Innes syndrome", "microcephaly, intellectual disability, and distinctive facies, with Cardiac and genitourinary malformations", "microcephaly, mental retardation, and distinctive facies, with Cardiac and genitourinary malformations" ] }, "child_count": 0, "reference_id": "MONDO:0013362" }, { "id": 14606, "label": "DYRK1A-related intellectual disability syndrome", "isLeaf": false, "isRoot": false, "parents": [ 4427, 16087, 24323 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0070037", "GARD:0013527", "MEDGEN:1799566", "OMIM:614104", "Orphanet:464306", "UMLS:C5568143" ], "synonyms": [ "MRD7", "autosomal dominant intellectual disability 7", "intellectual disability, autosomal dominant type 7", "mental retardation, autosomal dominant type 7", "autosomal dominant non-syndromic intellectual disability 7", "intellectual disability, autosomal dominant 7", "mental retardation, autosomal dominant 7" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "An autosomal dominant non-syndromic intellectual disability that has material basis in an autosomal dominant mutation of DYRK1A on chromosome 21q22.13." }, "child_count": 6, "reference_id": "MONDO:0013578" }, { "id": 14671, "label": "chromosome 8q21.11 deletion syndrome", "isLeaf": true, "isRoot": false, "parents": [ 16087, 17326 ], "type_id": 0, "properties": { "xrefs": [ "DECIPHER:86", "DOID:0060425", "GARD:0017310", "MEDGEN:481861", "OMIM:614230", "Orphanet:284160", "SCTID:718615003", "UMLS:C3280231" ], "synonyms": [ "8q21.11 microdeletion syndrome", "Del(8)(q21.11)", "chromosome 8q21.11 deletion syndrome", "chromosome 8q21.11 deletion syndrome, isolated cases", "deletion 8q21.11", "monosomy 8q21.11" ], "definition": "Heterozygous overlapping microdeletions on chromosome 8q21.11 resulting in intellectual disability, facial dysmorphism comprising a round face, ptosis, short philtrum, Cupid's bow and prominent low-set ears, nasal speech and mild finger and toe anomalies." }, "child_count": 0, "reference_id": "MONDO:0013646" }, { "id": 14755, "label": "microcephaly-cerebellar hypoplasia-cardiac conduction defect syndrome", "isLeaf": true, "isRoot": false, "parents": [ 16087 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0017502", "MEDGEN:482322", "OMIM:614407", "Orphanet:329332", "UMLS:C3280692" ], "synonyms": [ "microcephaly-cerebellar hypoplasia-congenital heart conduction defect syndrome", "MCHCCD", "Zaki-Gleeson syndrome", "microcephaly, cerebellar hypoplasia, and CARDIAC conduction defect syndrome" ], "definition": "Microcephaly-cerebellar hypoplasia-cardiac conduction defect syndrome is a rare, genetic congenital anomalies/dysmorphic syndrome characterized by growth failure, global developmental delay, profound intellectual disability, autistic behaviors, acquired second-degree heart block with bradycardia and vasomotor instability. Hands and feet present with long fusiform fingers, campto-clinodactyly and crowded toes while craniofacial dysmorphism includes microcephaly, broad forehead, thin eyebrows, upslanting palpebral fissures, large ears with prominent antihelix, prominent nose, long philtrum, thin upper lip vermillion and prominent lower lip. Neurological signs include hypotonia, brisk reflexes, dystonic-like movements and truncal ataxia and imaging shows cerebellar hypoplasia and simplified gyral pattern." }, "child_count": 0, "reference_id": "MONDO:0013735" }, { "id": 14816, "label": "chromosome 16q22 deletion syndrome", "isLeaf": true, "isRoot": false, "parents": [ 16087, 17333 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0060401", "GARD:0024951", "MEDGEN:482782", "OMIM:614541", "Orphanet:658540", "UMLS:C3281152" ], "synonyms": [ "chromosome 16q22 deletion syndrome", "chromosome 16q22 deletion syndrome, isolated cases" ] }, "child_count": 0, "reference_id": "MONDO:0013798" }, { "id": 15016, "label": "Schuurs-Hoeijmakers syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4427, 16087, 24323 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0070047", "GARD:0013043", "MEDGEN:767257", "NCIT:C150555", "OMIM:615009", "Orphanet:329224", "UMLS:C3554343" ], "synonyms": [ "MRD17", "SHMS", "Schuurs-Hoeijmakers syndrome", "autosomal dominant intellectual disability 17", "intellectual disability, autosomal dominant type 17", "intellectual disability-craniofacial dysmorphism-cryptorchidism syndrome", "mental retardation, autosomal dominant type 17", "PACS1-related syndrome", "autosomal dominant intellectual disability-17", "intellectual disability, autosomal dominant 17", "mental retardation, autosomal dominant 17" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "Intellectual disability-craniofacial dysmorphism-cryptorchidism syndrome is a rare, genetic, syndromic intellectual disability syndrome characterized by mild to moderate intellectual disability, developmental delay (with speech and language development more severely affected) and facial dysmorphism which typically includes full, arched eyebrows, hypertelorism, down-slanting palpebral fissures, long eyelashes, ptosis, low-set, simple ears, bulbous nasal tip, flat philtrum, wide mouth with downturned corners and thin upper lip and diastema of the teeth. Association with infantile hypotonia, seizures, cryptorchidism in males and congenital abnormalities, including cardiac, cerebral or occular defects, may be observed." }, "child_count": 0, "reference_id": "MONDO:0014006" }, { "id": 15044, "label": "severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4427, 16087, 24323 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0070048", "GARD:0012815", "MEDGEN:767362", "OMIM:615074", "Orphanet:363686", "UMLS:C3554448" ], "synonyms": [ "GAND syndrome", "MRD18", "autosomal dominant intellectual disability 18", "intellectual disability, autosomal dominant type 18", "mental retardation, autosomal dominant type 18", "severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome", "GATAD2B-associated neurodevelopmental disorder", "autosomal dominant non-syndromic intellectual disability 18", "intellectual disability, autosomal dominant 18", "mental retardation, autosomal dominant 18" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "An autosomal dominant non-syndromic intellectual disability that has material basis in an autosomal dominant mutation of GATAD2B on chromosome 1q21.3." }, "child_count": 0, "reference_id": "MONDO:0014034" }, { "id": 15045, "label": "severe intellectual disability-progressive spastic diplegia syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4427, 16087, 24295, 24323 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0070049", "GARD:0003505", "ICD10CM:Q87.88", "MEDGEN:767363", "OMIM:615075", "Orphanet:404473", "UMLS:C3554449" ], "synonyms": [ "CTNNB1 syndrome", "MRD19", "autosomal dominant intellectual disability 19", "intellectual disability, autosomal dominant type 19", "mental retardation, autosomal dominant type 19", "neurodevelopmental disorder with spastic diplegia and visual defects", "severe intellectual disability-progressive spastic diplegia syndrome", "CTNNB1-related intellectual disability", "autosomal dominant non-syndromic intellectual disability 19", "intellectual disability, autosomal dominant 19", "mental retardation, autosomal dominant 19" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "Severe intellectual disability-progressive spastic diplegia syndrome is a rare condition that has been described in a few people with severe intellectual disability. Other signs and symptoms include progressive microcephaly (very small head); ataxia (lack of coordination); spasticity ; and/or skin, hair and mild facial anomalies. It is caused by changes (mutations) in the CTNNB1 gene and it is inherited in an autosomal dominant fashion. Treatment is based on the signs and symptoms present in each person." }, "child_count": 0, "reference_id": "MONDO:0014035" }, { "id": 15076, "label": "short ulna-dysmorphism-hypotonia-intellectual disability syndrome", "isLeaf": true, "isRoot": false, "parents": [ 16087 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0081201", "GARD:0017548", "MEDGEN:767523", "OMIM:615162", "Orphanet:357175", "UMLS:C3554609" ], "synonyms": [ "MRT35", "intellectual disability, autosomal recessive 35", "mental retardation, autosomal recessive 35" ] }, "child_count": 0, "reference_id": "MONDO:0014067" }, { "id": 15105, "label": "microcephaly-intellectual disability-phalangeal and neurological anomalies syndrome", "isLeaf": true, "isRoot": false, "parents": [ 16087 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0003498", "MEDGEN:490089", "OMIM:615236", "Orphanet:137658", "SCTID:719396000", "UMLS:C0796203" ], "synonyms": [ "Woods-Crouchman-Huson syndrome", "WOODS syndrome" ], "definition": "This syndrome is characterized by microcephaly, severe intellectual deficit, phalangeal anomalies (cutaneous syndactyly of the fingers, toe brachyclinodactyly and nail hypoplasia) and neurological manifestations (epilepsy, spastic/dystonic paraplegia and brisk reflexes)." }, "child_count": 0, "reference_id": "MONDO:0014096" }, { "id": 15183, "label": "hypotonia, infantile, with psychomotor retardation and characteristic facies", "isLeaf": false, "isRoot": false, "parents": [ 4427, 16087, 21292 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0017609", "MEDGEN:1642314", "OMIMPS:615419", "Orphanet:371364", "UMLS:C4706556" ], "synonyms": [ "IHPRF", "IHPRF syndrome", "hypotonia, infantile, with psychomotor retardation and characteristic facies", "hypotonia-speech impairment-severe cognitive delay syndrome", "infantile hypotonia-psychomotor retardation-characteristic facies syndrome" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "A rare, genetic neurodegenerative disorder characterized by severe, persistent hypotonia (presenting at birth or in early infancy), severe global developmental delay (with poor or absent speech, difficulty or inability to roll, sit or walk), profound intellectual disability, and failure to thrive. Additional manifestations include microcephaly, progressive peripheral spasticity, bilateral strabismus and nystagmus, constipation, and variable dysmorphic facial features (including plagiocephaly, broad forehead, small nose, low-set ears, micrognathia and open mouth with tented upper lip)." }, "child_count": 9, "reference_id": "MONDO:0014176" }, { "id": 15202, "label": "Hartsfield-Bixler-Demyer syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370, 16087, 18360 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0002725", "MEDGEN:335111", "MESH:C564484", "OMIM:615465", "Orphanet:2117", "SCTID:766032007", "UMLS:C1845146" ], "synonyms": [ "Hartsfield-Bixler-Demyer syndrome", "holoprosencephaly-ectrodactyly-cleft lip palate syndrome", "holoprosencephaly-ectrodactyly-cleft lip/palate syndrome", "HARTSFIELD syndrome", "HRTFDS", "holoprosencephaly, ectrodactyly, and bilateral cleft Lip/palate" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0002254", "name": "syndromic disease" } ] }, "child_count": 0, "reference_id": "MONDO:0014196" }, { "id": 15207, "label": "developmental and epileptic encephalopathy, 18", "isLeaf": true, "isRoot": false, "parents": [ 4427, 16087, 23814 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0080413", "GARD:0013676", "MEDGEN:815954", "OMIM:615476", "Orphanet:369894", "UMLS:C3809624" ], "synonyms": [ "DEE18", "EIEE18", "developmental and epileptic encephalopathy 18", "early infantile epileptic encephalopathy without suppression burst", "epileptic encephalopathy, early infantile, 18", "epileptic encephalopathy, early infantile, type 18" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ] }, "child_count": 0, "reference_id": "MONDO:0014201" }, { "id": 15211, "label": "severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome", "isLeaf": true, "isRoot": false, "parents": [ 5714, 16087 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0080893", "GARD:0013259", "MEDGEN:1656239", "NORD:139551", "OMIM:615485", "Orphanet:352577", "UMLS:C4750837" ], "synonyms": [ "ASXL3-Related Disorder", "Bainbridge-Roppers syndrome", "severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome", "BAINBRIDGE-ROPERS syndrome", "BRPS" ] }, "child_count": 0, "reference_id": "MONDO:0014205" }, { "id": 15219, "label": "CTCF-related neurodevelopmental disorder", "isLeaf": true, "isRoot": false, "parents": [ 4427, 16087, 24323 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0070051", "GARD:0017566", "MEDGEN:816016", "OMIM:615502", "Orphanet:363611", "UMLS:C3809686" ], "synonyms": [ "MRD21", "intellectual development disorder, autosomal dominant 21", "intellectual disability, autosomal dominant 21", "intellectual disability, autosomal dominant type 21", "intellectual disability-feeding difficulties-developmental delay-microcephaly syndrome", "mental retardation, autosomal dominant 21", "mental retardation, autosomal dominant type 21" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "A rare, genetic, neurodevelopmental disorder characterized by global developmental delay, borderline to severe intellectual disability, feeding difficulties, behavioral anomalies, vision anomalies and mild facial dysmorphism. Other associated features may include microcephaly, short stature, urogenital or palatal anomalies (e.g. cleft palate), minor cardiac defects, recurrent infections or hearing loss." }, "child_count": 0, "reference_id": "MONDO:0014213" }, { "id": 15244, "label": "severe intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndrome", "isLeaf": true, "isRoot": false, "parents": [ 5714, 16087 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0081204", "GARD:0017611", "MEDGEN:816183", "OMIM:615541", "Orphanet:391307", "UMLS:C3809853" ], "synonyms": [ "intellectual disability, autosomal recessive type 39", "mental retardation, autosomal recessive type 39", "MRT39", "intellectual disability, autosomal recessive 39", "mental retardation, autosomal recessive 39" ] }, "child_count": 0, "reference_id": "MONDO:0014238" }, { "id": 15268, "label": "8q24.3 microdeletion syndrome", "isLeaf": true, "isRoot": false, "parents": [ 16087, 17326, 24272 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0012814", "MEDGEN:816353", "OMIM:615583", "Orphanet:508488", "UMLS:C3810023" ], "synonyms": [ "Verheij syndrome", "VRJS", "chromosome 8Q24.3 deletion syndrome" ], "categories": [ { "ref": "MONDO:0004995", "name": "cardiovascular disorder" } ] }, "child_count": 0, "reference_id": "MONDO:0014263" }, { "id": 15278, "label": "microcephaly-thin corpus callosum-intellectual disability syndrome", "isLeaf": true, "isRoot": false, "parents": [ 5714, 16087 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0081205", "GARD:0017645", "MEDGEN:816410", "OMIM:615599", "Orphanet:397951", "UMLS:C3810080" ], "synonyms": [ "intellectual developmental disorder, autosomal recessive 40", "intellectual disability, autosomal recessive type 40", "mental retardation, autosomal recessive type 40", "microcephaly-thin corpus callosum-intellectual disability syndrome", "MRT40", "intellectual disability, autosomal recessive 40", "mental retardation, autosomal recessive 40" ], "definition": "Microcephaly-thin corpus callosum-intellectual disability syndrome is a rare, genetic, syndromic intellectual disability disease characterized by progressive postnatal microcephaly and global developmental delay, as well as moderate to profound intellectual disability, difficulty or inability to walk, pyramidal signs (including spasticity, hyperreflexia and extensor plantar response) and thin corpus callosum revealed by brain imaging. Ophthalmologic signs (including nystagmus, strabismus and abnormal retinal pigmentation), foot deformity and genital anomalies may also be associated." }, "child_count": 0, "reference_id": "MONDO:0014273" }, { "id": 15293, "label": "macrocephaly-developmental delay syndrome", "isLeaf": true, "isRoot": false, "parents": [ 5714, 16087 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0081206", "GARD:0017630", "MEDGEN:816555", "OMIM:615637", "Orphanet:397612", "UMLS:C3810225" ], "synonyms": [ "intellectual disability, autosomal recessive type 41", "mental retardation, autosomal recessive type 41", "MRT41", "intellectual disability, autosomal recessive 41", "mental retardation, autosomal recessive 41" ], "definition": "Macrocephaly-developmental delay syndrome is a rare, intellectual disability syndrome characterized by macrocephaly, mild dysmorphic features (frontal bossing, long face, hooded eye lids with small, downslanting palpebral fissures, broad nasal bridge, and prominent chin), global neurodevelopmental delay, behavioral abnormalities (e.g. anxiety, stereotyped movements) and absence or generalized tonic-clonic seizures. Additional features reported in some patients include craniosynostosis, fifth finger clinodactyly, recurrent pneumonia, and hepatosplenomegally." }, "child_count": 0, "reference_id": "MONDO:0014289" }, { "id": 15302, "label": "chromosome 5q12 deletion syndrome", "isLeaf": true, "isRoot": false, "parents": [ 16087, 17323 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0060421", "GARD:0017742", "MEDGEN:816612", "OMIM:615668", "Orphanet:439822", "UMLS:C3810282" ], "synonyms": [ "chromosome 5q12 deletion syndrome", "PDE4D haploinsufficiency syndrome" ], "definition": "PDE4D haploinsufficiency syndrome is a rare syndromic intellectual disability characterized by developmental delay, intellectual disability, low body mass index, long arms, fingers and toes, prominent nose and small chin." }, "child_count": 0, "reference_id": "MONDO:0014298" }, { "id": 15338, "label": "intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency", "isLeaf": true, "isRoot": false, "parents": [ 2903, 16087 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0070053", "GARD:0017673", "MEDGEN:816736", "OMIM:615761", "Orphanet:404440", "UMLS:C3810406" ], "synonyms": [ "MRD23", "autosomal dominant intellectual disability 23", "intellectual developmental disorder, autosomal dominant 23", "intellectual disability, autosomal dominant type 23", "intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency", "mental retardation, autosomal dominant type 23", "autosomal dominant non-syndromic intellectual disability 23", "intellectual disability, autosomal dominant 23", "mental retardation, autosomal dominant 23" ] }, "child_count": 0, "reference_id": "MONDO:0014336" }, { "id": 15363, "label": "autism spectrum disorder due to AUTS2 deficiency", "isLeaf": true, "isRoot": false, "parents": [ 4427, 16087, 24323 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0070056", "GARD:0017520", "MEDGEN:862872", "OMIM:615834", "Orphanet:352490", "UMLS:C4014435" ], "synonyms": [ "ASD due to AUTS2 deficiency", "AUTS2 syndrome", "MRD26", "autism spectrum disorder due to AUTS2 deficiency", "intellectual developmental disorder, autosomal dominant 26", "intellectual disability type 26", "mental retardation, autosomal dominant 26", "mental retardation, autosomal dominant type 26" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "Autism spectrum disorder due to AUTS2 deficiency is a rare genetic syndromic intellectual disability characterized by global developmental delay and borderline to severe intellectual disability, autism spectrum disorder with obsessive behavior, stereotypies, hyperactivity but frequently friendly and affable personality, feeding difficulties, short stature, muscular hypotonia, microcephaly, characteristic dysmorphic features (hypertelorism, high arched eyebrows, ptosis, deep and/or broad nasal bridge, broad/prominent nasal tip, short and/or upturned philtrum, narrow mouth, and micrognathia), and skeletal anomalies (kyphosis and/or scoliosis, arthrogryposis, slender habitus and extremities). Other clinical features may include hernias, congenital heart defects, cryptorchidism and seizures." }, "child_count": 0, "reference_id": "MONDO:0014361" }, { "id": 15373, "label": "developmental and epileptic encephalopathy, 23", "isLeaf": true, "isRoot": false, "parents": [ 4427, 16087, 16437, 23814 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0080415", "GARD:0017687", "MEDGEN:862929", "OMIM:615859", "Orphanet:411986", "UMLS:C4014492" ], "synonyms": [ "EIEE23", "developmental and epileptic encephalopathy 23", "developmental and epileptic encephalopathy, 23", "early-onset epileptic encephalopathy-cortical blindness-intellectual disability-facial dysmorphism syndrome", "epilepsy-cortical blindness-intellectual disability-facial dysmorphism syndrome", "epileptic encephalopathy, early infantile, 23", "epileptic encephalopathy, early infantile, type 23" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ] }, "child_count": 0, "reference_id": "MONDO:0014371" }, { "id": 15381, "label": "ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder", "isLeaf": true, "isRoot": false, "parents": [ 4427, 16087, 24323 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0070058", "GARD:0012931", "MEDGEN:862975", "NORD:1965", "OMIM:615873", "Orphanet:404448", "SCTID:766824003", "UMLS:C4014538" ], "synonyms": [ "ADNP Syndrome", "ADNP syndrome", "ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder", "HVDAS", "Helsmoortel-Van der Aa syndrome", "autosomal dominant intellectual disability 28", "intellectual disability, autosomal dominant 28", "mental retardation, autosomal dominant 28" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "An autosomal dominant non-syndromic intellectual disability that has material basis in an autosomal dominant mutation of ADNP on chromosome 20q13.13." }, "child_count": 0, "reference_id": "MONDO:0014379" }, { "id": 15384, "label": "Tatton-Brown-Rahman overgrowth syndrome", "isLeaf": true, "isRoot": false, "parents": [ 16087, 18360 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0112339", "GARD:0017674", "MEDGEN:862982", "OMIM:615879", "Orphanet:404443", "SCTID:768843007", "UMLS:C4014545" ], "synonyms": [ "DNMT3A-related overgrowth syndrome", "Tatton Brown Rahman Syndrome", "Tatton-Brown-Rahman overgrowth syndrome", "tall stature-intellectual disability-facial dysmorphism syndrome", "TATTON-BROWN-Rahman syndrome", "TBRS" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" } ], "definition": "A rare multiple congenital anomalies syndrome characterized by greater height, mild to moderate intellectual disability and distinctive facial appearance like round face, heavy, horizontal eyebrows and narrow palpebral fissures." }, "child_count": 0, "reference_id": "MONDO:0014382" }, { "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": 15506, "label": "Catel-Manzke syndrome", "isLeaf": true, "isRoot": false, "parents": [ 16087, 18360 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0081122", "GARD:0000028", "MEDGEN:375536", "MESH:C535347", "NORD:901", "OMIM:302380", "OMIM:616145", "Orphanet:1388", "SCTID:722383001", "UMLS:C1844887", "icd11.foundation:1023183031" ], "synonyms": [ "Catel Manzke Syndrome", "Catel-Manzke syndrome", "Palatodigital syndrome, Catel-Manzke type", "Pierre Robin sequence-hyperphalangy-clinodactyly syndrome", "Pierre Robin syndrome-hyperphalangy-clinodactyly syndrome", "hyperphalangy-clinodactyly of index finger with Pierre Robin syndrome", "index finger anomaly-Pierre Robin syndrome", "micrognathia digital syndrome", "CATMANS", "Catel Manzke syndrome", "Palatodigital syndrome Catel-Manzke type", "Pierre Robin syndrome with hyperphalangy and clinodactyly", "index finger anomaly with Pierre Robin syndrome" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" } ], "definition": "Catel-Manzke syndrome is a rare bone disease characterized by bilateral hyperphalangy and clinodactyly of the index finger typically in association with Pierre Robin sequence comprising micrognathia, cleft palate and glossoptosis." }, "child_count": 0, "reference_id": "MONDO:0014507" }, { "id": 15528, "label": "cerebellar-facial-dental syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4427, 16087, 19709, 24270 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0080898", "GARD:0017761", "MEDGEN:863932", "OMIM:616202", "Orphanet:444072", "UMLS:C4015495" ], "synonyms": [ "Cerebellofaciodental syndrome", "cerebellar-facial-dental syndrome", "CEREBELLOFACIODENTAL syndrome", "CFDS" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "A syndrome that is characterized by delayed development, intellectual disability, abnormal facial and dental findings, and cerebellar hypoplasia and that has material basis in homozygous or compound heterozygous mutation in the BRF1 gene on chromosome 14q32." }, "child_count": 0, "reference_id": "MONDO:0014529" }, { "id": 15556, "label": "autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4427, 16087, 16201, 24272, 24323 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0070062", "GARD:0017797", "MEDGEN:903767", "NORD:1954", "OMIM:616268", "Orphanet:457193", "UMLS:C4225396" ], "synonyms": [ "Arboleda-Tham syndrome", "KAT6A Syndrome", "MRD32", "autosomal dominant intellectual disability 32", "autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome", "intellectual disability, autosomal dominant type 32", "mental retardation, autosomal dominant type 32", "autosomal dominant non-syndromic intellectual disability 32", "intellectual disability, autosomal dominant 32", "mental retardation, autosomal dominant 32" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0004995", "name": "cardiovascular disorder" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "A rare genetic neurodevelopmental disorder characterized by global developmental delay (DD) and variable degrees of intellectual disability (ID) with delayed or limited/absent speech development associated with neonatal hypotonia, feeding difficulties, cardiac anomalies and dysmorphic facial features, predominantly broad nasal tip and thin, tented upper lip. Microcephaly, frequent infections, gastrointestinal and/or ocular anomalies have also been described." }, "child_count": 0, "reference_id": "MONDO:0014558" }, { "id": 15599, "label": "autosomal recessive spinocerebellar ataxia 20", "isLeaf": true, "isRoot": false, "parents": [ 4427, 16087, 16133, 19709 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0080066", "GARD:0017636", "MEDGEN:1684324", "OMIM:616354", "Orphanet:397709", "UMLS:C5190595" ], "synonyms": [ "SCAR20", "SNX14 autosomal recessive cerebellar ataxia", "autosomal recessive cerebellar ataxia caused by mutation in SNX14", "autosomal recessive spinocerebellar ataxia type 20", "intellectual disability-coarse face-macrocephaly-cerebellar hypoplasia syndrome", "spinocerebellar ataxia, autosomal recessive type 20", "intellectual disability-coarse face-macrocephaly-cerebellar hypotrophy syndrome", "spinocerebellar ataxia, autosomal recessive 20" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "Any autosomal recessive cerebellar ataxia in which the cause of the disease is a mutation in the SNX14 gene." }, "child_count": 0, "reference_id": "MONDO:0014601" }, { "id": 15600, "label": "Houge-Janssens syndrome 1", "isLeaf": true, "isRoot": false, "parents": [ 4427, 16087, 24323, 25718 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0070065", "GARD:0017802", "MEDGEN:1830493", "OMIM:616355", "Orphanet:457279", "UMLS:C5779996" ], "synonyms": [ "MRD35", "autosomal dominant intellectual disability 35", "intellectual disability, autosomal dominant type 35", "intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome", "mental retardation, autosomal dominant type 35", "autosomal dominant non-syndromic intellectual disability 35", "intellectual disability, autosomal dominant 35", "mental retardation, autosomal dominant 35" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "An autosomal dominant intellectual developmental disorder that has material basis in an autosomal dominant mutation of the PPP2R5D gene on chromosome 6p21.1." }, "child_count": 0, "reference_id": "MONDO:0014602" }, { "id": 15603, "label": "Houge-Janssens syndrome 2", "isLeaf": true, "isRoot": false, "parents": [ 2903, 16087, 25718 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0070066", "GARD:0017803", "MEDGEN:899880", "OMIM:616362", "Orphanet:457284", "UMLS:C4225352" ], "synonyms": [ "MRD36", "autosomal dominant intellectual disability 36", "intellectual disability, autosomal dominant type 36", "mental retardation, autosomal dominant type 36", "microcephaly-corpus callosum hypoplasia-intellectual disability-facial dysmorphism syndrome", "autosomal dominant non-syndromic intellectual disability 36", "intellectual disability, autosomal dominant 36", "mental retardation, autosomal dominant 36" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ] }, "child_count": 0, "reference_id": "MONDO:0014605" }, { "id": 15604, "label": "intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4427, 16087, 24323 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0070067", "GARD:0013774", "MEDGEN:897984", "OMIM:616364", "Orphanet:468678", "UMLS:C4225351" ], "synonyms": [ "MRD37", "WHSUS", "autosomal dominant intellectual disability 37", "intellectual disability, autosomal dominant type 37", "intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome", "mental retardation, autosomal dominant type 37", "WHITE-Sutton syndrome", "White-Sutton syndrome", "intellectual disability, autosomal dominant 37", "mental retardation, autosomal dominant 37" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome is a rare, genetic, syndromic intellectual disability disorder characterized by craniofacial dysmorphism (microcephaly, hypotonic facies, strabismus, long and flat malar region, posteriorly rotated ears, flat nasal bridge with broad nasal tip, short philtrum, thin vermillion border, open mouth with down-turned corners, high arched palate, pointed chin), global developmental delay, intellectual disability and variable neurobehavioral abnormalities (autism spectrum disorder, aggressiveness, self injury). Additional features include vision abnormalities and variable sensorineural hearing loss, as well as short stature, hypotonia and gastrointestinal manifestations (e.g. poor feeding, gastroesophageal reflux, constipation)." }, "child_count": 0, "reference_id": "MONDO:0014606" }, { "id": 15607, "label": "cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome", "isLeaf": true, "isRoot": false, "parents": [ 16087, 18360 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0012845", "MEDGEN:894554", "OMIM:616368", "Orphanet:444077", "SCTID:764455002", "UMLS:C4085597" ], "synonyms": [ "CHOPS syndrome", "CHOPS", "cognitive impairment, coarse facies, heart defects, obesity, pulmonary involvement, short stature, and skeletal dysplasia" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" } ] }, "child_count": 0, "reference_id": "MONDO:0014609" }, { "id": 15628, "label": "hypomyelinating leukodystrophy 10", "isLeaf": true, "isRoot": false, "parents": [ 4427, 16087, 18952 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0060788", "GARD:0025008", "MEDGEN:904191", "OMIM:616420", "Orphanet:481152", "UMLS:C4225332" ], "synonyms": [ "HLD10", "PYCR2 leukodystrophy", "PYCR2-related microcephaly-progressive leukoencephalopathy", "hypomyelinating leukodystrophy type 10", "leukodystrophy caused by mutation in PYCR2", "leukodystrophy, hypomyelinating, 10", "leukodystrophy, hypomyelinating, type 10" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "Any leukodystrophy in which the cause of the disease is a mutation in the PYCR2 gene." }, "child_count": 0, "reference_id": "MONDO:0014632" }, { "id": 15639, "label": "congenital cataract-microcephaly-nevus flammeus simplex-severe intellectual disability syndrome", "isLeaf": true, "isRoot": false, "parents": [ 5714, 16087 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0017821", "MEDGEN:897292", "OMIM:616449", "Orphanet:464738", "UMLS:C4225323" ], "synonyms": [ "Basel-Vanagait-Smirin-Yosef syndrome", "BASEL-Vanagaite-SMIRIN-YOSEF syndrome", "BVSYS" ] }, "child_count": 0, "reference_id": "MONDO:0014643" }, { "id": 15709, "label": "macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4427, 16087, 24020, 24270 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0013636", "MEDGEN:899689", "NORD:91167", "OMIM:616638", "Orphanet:457485", "UMLS:C4225259" ], "synonyms": [ "MINDS syndrome", "Smith-Kingsmore Syndrome", "Smith-Kingsmore syndrome", "SKS", "SMITH-Kingsmore syndrome", "macrocephaly, seizures, intellectual disability, umbilical hernia, and Facial Dysmorphism", "macrocephaly, seizures, mental retardation, umbilical hernia, and Facial Dysmorphism" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "A rare multiple congenital anomalies/dysmorphic syndrome with intellectual disability, characterized by macrocephaly, intellectual disability, seizures, dysmorphic facial features (including tall forehead, downslanting palpebral fissures, hypertelorism, depressed nasal bridge, and macrostomia), megalencephaly, and small thorax. Other reported features are umbilical hernia, muscular hypotonia, global developmental delay, autistic behavior, and café-au-lait spots, among others." }, "child_count": 0, "reference_id": "MONDO:0014716" }, { "id": 15738, "label": "SLC39A8-CDG", "isLeaf": true, "isRoot": false, "parents": [ 4427, 7157, 16087, 16198, 17973, 19709, 24270 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0070266", "GARD:0017846", "MEDGEN:899837", "OMIM:616721", "Orphanet:468699", "UMLS:C4225234" ], "synonyms": [ "CDG syndrome type IIn", "CDG-IIn", "CDG2N", "SLC39A8 deficiency", "carbohydrate deficient glycoprotein syndrome type IIn", "congenital disorder of glycosylation type 2n", "congenital disorder of glycosylation type IIn", "congenital disorder of glycosylation, type IIn", "CDG IIn" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ] }, "child_count": 0, "reference_id": "MONDO:0014746" }, { "id": 15740, "label": "progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome", "isLeaf": true, "isRoot": false, "parents": [ 16087, 17206 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0017808", "MEDGEN:1800305", "OMIM:616723", "Orphanet:457395", "UMLS:C5568882" ], "synonyms": [ "SEMDFA", "spondyloepimetaphyseal dysplasia, faden-Alkuraya type", "spondyloepimetaphyseal dysplasia, faden-ALKURAYA type", "spondyloepimetaphyseal dysplasia, progressive, with short stature, Facial Dysmorphism, short fourth metatarsals, and intellectual disability, with or without craniosynostosis", "spondyloepimetaphyseal dysplasia, progressive, with short stature, Facial Dysmorphism, short fourth metatarsals, and mental retardation, with or without craniosynostosis" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" } ] }, "child_count": 0, "reference_id": "MONDO:0014748" }, { "id": 15743, "label": "palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome", "isLeaf": true, "isRoot": false, "parents": [ 5714, 16087 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0017862", "MEDGEN:895943", "OMIM:616728", "Orphanet:477993", "UMLS:C4225229" ], "synonyms": [ "palatal anomalies-multiple diastemata-facial dysmorphism-developmental delay syndrome", "CPRF", "cleft palate, psychomotor retardation, and distinctive FACIAL features", "cleft palate, psychomotor retardation, and distinctive Facial features" ], "definition": "Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome is a rare, genetic multiple congenital anomalies/dysmorphic syndrome characterized by global developmental delay, axial hypotonia, palate abnormalities (including cleft palate and/or high and narrow palate), dysmorphic facial features (including prominent forehead, hypertelorism, downslanting palpebral fissures, wide nasal bridge, thin lips and widely spaced teeth), and short stature. Additional manifestations may include digital anomalies (such as brachydactyly, clinodactyly, and hypoplastic toenails), a single palmar crease, lower limb hypertonia, joint hypermobility, as well as ocular and urogenital anomalies." }, "child_count": 0, "reference_id": "MONDO:0014751" }, { "id": 15748, "label": "macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370, 10564, 16087, 18746 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0017884", "MEDGEN:906646", "NANDO:2200985", "OMIM:616737", "Orphanet:487796", "UMLS:C4225222" ], "synonyms": [ "Takenouchi-Kosaki syndrome", "TAKENOUCHI-Kosaki syndrome", "TKS", "macrothrombocytopenia and intellectual disability syndrome", "macrothrombocytopenia and mental retardation syndrome" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0005570", "name": "hematologic disorder" } ] }, "child_count": 0, "reference_id": "MONDO:0014757" }, { "id": 15753, "label": "spastic paraplegia-severe developmental delay-epilepsy syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4427, 16082, 16087, 16437 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0017816", "MEDGEN:897828", "OMIM:616756", "Orphanet:464282", "UMLS:C4225215" ], "synonyms": [ "SPPRS syndrome", "spastic paraplegia-psychomotor retardation-seizures syndrome", "SPPRS", "spastic paraplegia and psychomotor retardation with or without seizures" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "Spastic paraplegia-severe developmental delay-epilepsy syndrome is a rare, genetic, complex spastic paraplegia disorder characterized by an infantile-onset of psychomotor developmental delay with severe intellectual disability and poor speech acquisition, associated with seizures (mostly myoclonic), muscular hypotonia which may be noted at birth, and slowly progressive spasticity in the lower limbs leading to severe gait disturbances. Ocular abnormalities and incontinence are commonly associated. Other symptoms may include verbal dyspraxia, hypogenitalism, macrocephaly and sensorineural hearing loss, as well as dystonic movements and ataxia with upper limb involvement." }, "child_count": 0, "reference_id": "MONDO:0014764" }, { "id": 15762, "label": "cardiac anomalies - developmental delay - facial dysmorphism syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4427, 16087, 24272, 24323 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0017588", "HGNC:22962", "MEDGEN:1675852", "OMIM:616789", "Orphanet:369891", "UMLS:C5192431" ], "synonyms": [ "ASRAS", "Asadollahi-Rauch syndrome", "MED13L haploinsufficiency syndrome", "MED13L syndrome", "MED13L-related intellectual disability", "MRFACD", "cardiac anomalies - developmental delay - facial dysmorphism syndrome", "developmental delay-facial dysmorphism syndrome due to MED13L deficiency", "impaired intellectual development and distinctive facial features with or without cardiac defects", "intellectual disability and distinctive facial features with or without cardiac defects", "mental retardation and distinctive Facial features with or without Cardiac defects", "MED13L-related syndrome", "MRFACD syndrome", "mental retardation and distinctive FACIAL features with or without CARDIAC defects" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0004995", "name": "cardiovascular disorder" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "A rare, genetic syndromic intellectual disability characterized by developmental delay, mild to severe intellectual disability, facial features (bulbous nasal tip, and macroglossia, macrostomia, or open mouth appearance) and a wide spectrum of other nonspecific variable clinical features, such as cardiac defects." }, "child_count": 0, "reference_id": "MONDO:0014773" }, { "id": 15775, "label": "severe intellectual disability-corpus callosum agenesis-facial dysmorphism-cerebellar ataxia syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4427, 16087, 19709, 24270 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0017824", "MEDGEN:902346", "OMIM:616819", "Orphanet:466688", "UMLS:C4225193" ], "synonyms": [ "CCAFCA", "corpus callosum, agenesis of, with Facial anomalies and cerebellar ataxia", "Birk-Flusser syndrome", "corpus callosum, agenesis OF, with FACIAL anomalies and cerebellar ataxia" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ] }, "child_count": 0, "reference_id": "MONDO:0014787" }, { "id": 15832, "label": "TELO2-related intellectual disability-neurodevelopmental disorder", "isLeaf": true, "isRoot": false, "parents": [ 4427, 16087, 16088, 17327, 18956, 19709, 24270 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0017898", "MEDGEN:934745", "OMIM:616954", "Orphanet:488642", "UMLS:C4310778" ], "synonyms": [ "you-Hoover-Fong syndrome", "YHFS" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ] }, "child_count": 0, "reference_id": "MONDO:0014848" }, { "id": 15862, "label": "transketolase deficiency", "isLeaf": true, "isRoot": false, "parents": [ 16087, 16198, 19095, 24272 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0017894", "MEDGEN:1814561", "OMIM:617044", "Orphanet:488618", "UMLS:C5700245" ], "synonyms": [ "TKT deficiency", "short stature-developmental delay-congenital heart defect syndrome", "SDDHD", "short stature, developmental delay, and congenital heart defects" ], "categories": [ { "ref": "MONDO:0004995", "name": "cardiovascular disorder" } ] }, "child_count": 0, "reference_id": "MONDO:0014881" }, { "id": 15867, "label": "severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome", "isLeaf": true, "isRoot": false, "parents": [ 16087, 19140, 23867 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0017895", "MEDGEN:934712", "OMIM:617051", "Orphanet:488627", "UMLS:C4310745" ], "synonyms": [ "MRT55", "intellectual disability, autosomal recessive 55", "intellectual disability, autosomal recessive type 55", "mental retardation, autosomal recessive 55", "mental retardation, autosomal recessive type 55", "neurodevelopmental disorder with microcephaly and gray sclerae", "neurodevelopmental disorder with microcephaly and grey sclerae" ], "categories": [ { "ref": "MONDO:0002051", "name": "integumentary system disorder" } ] }, "child_count": 0, "reference_id": "MONDO:0014886" }, { "id": 15873, "label": "micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4427, 16087, 24323 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0070074", "GARD:0017850", "MEDGEN:934707", "OMIM:617061", "Orphanet:476126", "UMLS:C4310740" ], "synonyms": [ "MEBAS", "MRD44", "autosomal dominant intellectual disability 44", "intellectual developmental disorder, autosomal dominant 44, with microcephaly", "mercer-Ba syndrome", "autosomal dominant non-syndromic intellectual disability 44", "intellectual disability, autosomal dominant 44", "mental retardation, autosomal dominant 44" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ] }, "child_count": 0, "reference_id": "MONDO:0014892" }, { "id": 15897, "label": "tall stature-intellectual disability-renal anomalies syndrome", "isLeaf": true, "isRoot": false, "parents": [ 5714, 16087 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0017921", "MEDGEN:934682", "OMIM:617107", "Orphanet:500095", "UMLS:C4310715" ], "synonyms": [ "TROFAS", "Thauvin-robinet-Faivre syndrome", "THAUVIN-robinet-Faivre syndrome" ] }, "child_count": 0, "reference_id": "MONDO:0014918" }, { "id": 15915, "label": "ZTTK syndrome", "isLeaf": true, "isRoot": false, "parents": [ 5714, 16087 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0060953", "GARD:0013489", "MEDGEN:934663", "OMIM:617140", "Orphanet:500150", "UMLS:C4310696" ], "synonyms": [ "TOKIMS", "Tokita-Kim syndrome", "ZTTK syndrome", "ZTTK multiple congenital anomalies-intellectual disability syndrome", "ZTTK multiple congenital anomalies-mental retardation syndrome", "ZTTKS", "Zhu-Tokita-Takenouchi-Kim syndrome", "brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome" ] }, "child_count": 0, "reference_id": "MONDO:0014936" }, { "id": 15923, "label": "short stature-brachydactyly-obesity-global developmental delay syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4427, 16087, 19473, 24320 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0017817", "MEDGEN:934656", "OMIM:617157", "Orphanet:464288", "UMLS:C4310689" ], "synonyms": [ "SBIDDS", "short stature, brachydactyly, intellectual developmental disability, and seizures" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ] }, "child_count": 0, "reference_id": "MONDO:0014944" }, { "id": 15988, "label": "mucopolysaccharidosis-plus syndrome", "isLeaf": true, "isRoot": false, "parents": [ 6815, 16087, 16198, 24093, 24806 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0017944", "MEDGEN:934594", "OMIM:617303", "Orphanet:505248", "SCTID:1187113001", "UMLS:C4310627" ], "synonyms": [ "MPSPS", "mucopolysaccharidosis-like plus disease", "mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disorders", "mucopolysaccharidosis-plus syndrome" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0005087", "name": "respiratory system disorder" } ] }, "child_count": 0, "reference_id": "MONDO:0015012" }, { "id": 15997, "label": "hypotonia, ataxia, and delayed development syndrome", "isLeaf": true, "isRoot": false, "parents": [ 5714, 16087 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0081176", "GARD:0025054", "MEDGEN:934585", "OMIM:617330", "Orphanet:658843", "UMLS:C4310618" ], "synonyms": [ "EBF3 neurodevelopmental disorder", "HADDS", "developmental delay-ataxia-hypotonia-facial dysmorphism syndrome", "hypotonia, ataxia, and delayed development syndrome", "hypotonia, ataxia, and delayed development syndrome; HADDS" ] }, "child_count": 0, "reference_id": "MONDO:0015021" }, { "id": 16124, "label": "caudal appendage-deafness syndrome", "isLeaf": true, "isRoot": false, "parents": [ 16087 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0001163", "MEDGEN:419843", "MESH:C537713", "Orphanet:1123", "SCTID:726621009", "UMLS:C2931593" ], "synonyms": [ "Lynch-Lee-Murday syndrome", "Lynch Lee Murday syndrome", "caudal appendage deafness", "caudal appendage, short terminal phalanges, deafness, cryptorchidism and intellectual disability", "caudal appendage, short terminal phalanges, deafness, cryptorchidism and mental retardation" ], "definition": "Caudal appendage-deafness syndrome is characterized by caudal appendage, short terminal phalanges, deafness, cryptorchidism, intellectual deficit, short stature and dysmorphism. It has been described in monozygotic twin boys." }, "child_count": 0, "reference_id": "MONDO:0015233" }, { "id": 16125, "label": "arachnodactyly-abnormal ossification-intellectual disability syndrome", "isLeaf": true, "isRoot": false, "parents": [ 16087 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0000381", "MEDGEN:419792", "MESH:C537024", "Orphanet:1129", "SCTID:720501007", "UMLS:C2931398" ], "synonyms": [ "Kosztolanyi syndrome", "arachnodactyly, abnormal ossification and intellectual disability", "arachnodactyly, abnormal ossification and mental retardation" ], "definition": "Arachnodactyly - abnormal ossification - intellectual disability is a multiple congenital developmental anomalies syndrome characterized by arachnodactyly of fingers and toes associated with craniofacial dysmorphism (including abnormal cranial ossification, frontal bossing, flat calvaria, shallow deformed orbits resulting in exophtalmos, midface hypoplasia and micrognathia), feeding difficulties in infancy, infantile muscular hypotonia, and developmental delay leading to intellectual disability." }, "child_count": 0, "reference_id": "MONDO:0015234" }, { "id": 16135, "label": "ataxia-photosensitivity-short stature syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370, 16087 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0002287", "MEDGEN:1655873", "Orphanet:1184", "UMLS:C4751230" ], "synonyms": [ "Fenton Wilkinson Toselano syndrome", "Fenton-Wilkinson-Toselano syndrome" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "A rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by cerebellar-like ataxia, photosensitivity (mainly of the face and trunk), short stature and intellectual disability. Additional features include clinodactyly, single palmar transverse crease, high-arched palate, pseudohypertrophy of the calves and aortic valve lesions. There have been no further descriptions in the literature since 1983." }, "child_count": 0, "reference_id": "MONDO:0015248" }, { "id": 16138, "label": "severe microbrachycephaly-intellectual disability-athetoid cerebral palsy syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4427, 16087, 24045 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0003482", "MEDGEN:1682668", "Orphanet:1236", "UMLS:C5190778" ], "synonyms": [ "severe microbrachycephaly-intellectual disability-athetoid cerebral palsy syndrome", "BD syndrome", "intellectual disability - athetosis - microphthalmia", "intellectual disability-athetosis-microphthalmia syndrome" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ] }, "child_count": 0, "reference_id": "MONDO:0015252" }, { "id": 16143, "label": "brachydactyly-mesomelia-intellectual disability-heart defects syndrome", "isLeaf": true, "isRoot": false, "parents": [ 16087 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0005036", "MEDGEN:1645467", "Orphanet:1277", "UMLS:C4707567" ], "synonyms": [ "Stratton-Garcia-Young syndrome", "brachydactyly mesomelia intellectual disability aortic dilatation mitral valve prolapse and characteristic face", "brachydactyly mesomelia mental retardation aortic dilatation mitral valve prolapse and characteristic face" ], "definition": "Brachydactyly-mesomelia-intellectual disability-heart defects syndrome is a rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by developmental delay, intellectual disability, thin habitus with narrow shoulders, mesomelic shortness of the arms, craniofacial dysmorphism (e.g. long lower face, maxillary hypoplasia, beak nose, short columella, prognathia, high arched palate, obtuse mandibular angle), brachydactyly (mostly involving middle phalanges) and cardiovascular anomalies (i.e. aortic root dilatation, mitral valve prolapse)." }, "child_count": 0, "reference_id": "MONDO:0015259" }, { "id": 16162, "label": "cardiofaciocutaneous syndrome", "isLeaf": false, "isRoot": false, "parents": [ 16087, 19138, 19780 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0060233", "GARD:0009146", "MEDGEN:266149", "MESH:C535579", "NANDO:1200462", "NANDO:2200967", "NCIT:C84617", "NORD:891", "OMIMPS:115150", "Orphanet:1340", "SCTID:403770008", "UMLS:C1275081" ], "synonyms": [ "CFC", "CFC syndrome", "cardiofaciocutaneous (CFC) syndrome", "cardiofaciocutaneous syndrome", "cardio-facio-cutaneous syndrome", "congenital heart defects characteristic facial appearance ectodermal abnormalities and growth failure" ], "categories": [ { "ref": "MONDO:0002051", "name": "integumentary system disorder" }, { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0004995", "name": "cardiovascular disorder" } ], "definition": "Cardiofaciocutaneous (CFC) syndrome is a RASopathy characterized by craniofacial dysmorphology, congenital heart disease, dermatological abnormalities (most commonly hyperkeratotic skin and sparse, curly hair), growth retardation and intellectual disability." }, "child_count": 12, "reference_id": "MONDO:0015280" }, { "id": 16195, "label": "cataract-intellectual disability-anal atresia-urinary defects syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370, 16087 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0000192", "MEDGEN:419068", "MESH:C537009", "Orphanet:1381", "SCTID:715989002", "UMLS:C2931391" ], "synonyms": [ "Karandikar-Maria-Kamble syndrome", "Karandikar Maria Kamble syndrome", "cataract intellectual disability anal atresia urinary defects", "cataract mental retardation anal atresia urinary defects", "congenital cataract with multiple congenital anomalies in a sibship" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "Cataract-intellectual disability-anal atresia-urinary defects syndrome is characterized by congenital cataracts with squint, intellectual deficit, anomalies of the genitourinary tract (rectovesical fistula, micropenis, undescended testis, and hypospadias), imperforate anus and other anomalies." }, "child_count": 0, "reference_id": "MONDO:0015324" }, { "id": 16196, "label": "cataract-deafness-hypogonadism syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370, 16087 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0000248", "MEDGEN:419760", "MESH:C536626", "Orphanet:1383", "SCTID:722378009", "UMLS:C2931269" ], "synonyms": [ "Schaap-Taylor-Baraitser syndrome", "cataracts, sensorineural deafness, hypogonadism, hypertrichosis and short stature" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "Cataract-deafness-hypogonadism syndrome is an extremely rare multiple congenital abnormality syndrome, described in only three brothers to date, that is characterized by the association of congenital cataract, sensorineural deafness, hypogonadism, mild intellectual deficit, hypertrichosis, and short stature. There have been no further descriptions in the literature since 1995." }, "child_count": 0, "reference_id": "MONDO:0015325" }, { "id": 16295, "label": "Coffin-Siris syndrome", "isLeaf": false, "isRoot": false, "parents": [ 4370, 5714, 6893, 16087 ], "type_id": 0, "properties": { "xrefs": [ "DOID:1925", "GARD:0006124", "ICD9:759.89", "MEDGEN:75565", "MESH:C536436", "NANDO:1200670", "NANDO:2200977", "NCIT:C35321", "NORD:984", "OMIMPS:135900", "Orphanet:1465", "SCTID:10007009", "UMLS:C0265338", "icd11.foundation:734451870" ], "synonyms": [ "CSS", "Coffin-Siris syndrome", "intellectual disability with absent fifth fingernail and terminal phalanx" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "Coffin-Siris syndrome (CSS) is a rare congenital multi-systemic genetic disorder characterized by aplasia or hypoplasia of the distal phalanx or nail of the fifth digit, developmental delay, intellectual disability, coarse facial features, and other variable clinical manifestations." }, "child_count": 44, "reference_id": "MONDO:0015452" }, { "id": 16300, "label": "intellectual disability-hypoplastic corpus callosum-preauricular tag syndrome", "isLeaf": true, "isRoot": false, "parents": [ 16087 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0012487", "MEDGEN:928199", "Orphanet:1495", "SCTID:722455002", "UMLS:C4302530" ], "synonyms": [ "Da Silva syndrome", "intellectual disability - hypoplastic corpus callosum - preauricular tag" ], "definition": "Intellectual disability-hypoplastic corpus callosum-preauricular tag syndrome is characterized by a hypoplastic corpus callosum, microcephaly, severe intellectual deficit, preauricular skin tags, camptodactyly, growth retardation, and recurrent bronchopneumonia. It has been described in four patients in two families. Transmission is autosomal recessive." }, "child_count": 0, "reference_id": "MONDO:0015458" }, { "id": 16304, "label": "craniodigital syndrome-intellectual disability syndrome", "isLeaf": true, "isRoot": false, "parents": [ 16087 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0004776", "MEDGEN:333293", "MESH:C537528", "OMIM:312860", "Orphanet:1514", "SCTID:763665007", "UMLS:C1839311" ], "synonyms": [ "Scott craniodigital syndrome", "Scott-Bryant-Graham syndrome", "Scott Bryant Graham syndrome", "Scott craniodigital syndrome with intellectual disability", "Scott craniodigital syndrome with mental retardation", "craniodigital syndrome with intellectual disability", "craniodigital syndrome with mental retardation", "craniodigital syndrome-intellectual disability, Scott type", "craniodigital syndrome-mental retardation, Scott type", "craniodigital-intellectual disability syndrome" ], "definition": "Craniodigital syndrome - intellectual deficit is characterized by syndactyly of the fingers and toes, characteristic facies (`startled' facial expression with a small pointed nose, micrognathia, long dark eyelashes and prominent eyebrows) and intellectual deficit." }, "child_count": 0, "reference_id": "MONDO:0015463" }, { "id": 16312, "label": "cryptorchidism-arachnodactyly-intellectual disability syndrome", "isLeaf": true, "isRoot": false, "parents": [ 16087 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0000860", "MEDGEN:1647147", "Orphanet:1548", "UMLS:C4707233" ], "synonyms": [ "Van Benthem-Driessen-Hanveld syndrome", "cryptorchidism arachnodactyly intellectual deficit" ], "definition": "Cryptorchidism-arachnodactyly-intellectual disability syndrome is a rare, multiple congenital anomalies syndrome characterized by psychomotor delay, severe intellectual deficit, severe muscle hypoplasia (with absence of subcutaneous fatty tissue), generalized contractures, craniofacial dysmorphic features (dolichocephaly, esotropia, ears of unequal size, high palate), chest and spinal deformities (i.e. sternum shifted to side, kyphoscoliosis), pulmonary anomalies (unilateral hypoplastic bronchial system), arachnodactyly, and genital abnormalities (cryptorchidism, hypospadias, testicular agenesis). Repeated respiratory tract infections and atelectasis are also associated. There have been no further descriptions in the literature since 1970." }, "child_count": 0, "reference_id": "MONDO:0015473" }, { "id": 16535, "label": "facial dysmorphism-shawl scrotum-joint laxity syndrome", "isLeaf": true, "isRoot": false, "parents": [ 16087 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0004778", "MEDGEN:419099", "MESH:C537529", "Orphanet:1778", "SCTID:716337006", "UMLS:C2931522" ], "synonyms": [ "Seaver-Cassidy syndrome", "Seaver Cassidy syndrome", "facial dysmorphism shawl scrotum joint laxity", "hypertelorism, downslanting palpebral fissures, malar hypoplasia, and apparently low-set ears associated with joint and scrotal anomalies" ], "definition": "Facial dysmorphism-shawl scrotum-joint laxity syndrome is characterized by facial dysmorphism (hypertelorism, telecanthus, downslanting palpebral fissures, ptosis, malar hypoplasia, broad nasal bridge, thin upper lip, smooth philtrum, and low-set prominent ears) and associated with joint anomalies (genu valgum or cubitus valgus, hyper-extensible joints, etc.). It has been described in two patients (a mother and her son). The boy also had hypoplastic shawl scrotum and cryptorchidism, and the mother had mild intellectual deficit." }, "child_count": 0, "reference_id": "MONDO:0015781" }, { "id": 16620, "label": "epiphyseal dysplasia-hearing loss-dysmorphism syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370, 16087 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0002178", "MEDGEN:1643947", "Orphanet:1825", "SCTID:766870005", "UMLS:C4707857" ], "synonyms": [ "Finucane-Kurtz-Scott syndrome", "Finucane Kurtz Scott syndrome", "epiphyseal dysplasia hearing loss dysmorphism" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "Epiphyseal dysplasia-hearing loss-dysmorphism syndrome is a rare multiple congenital anomalies/dysmorphic syndrome characterized by developmental delay, intellectual disability, short stature, sensorineural hearing impairment, facial dysmorphism (incl. epicanthus, broad, depressed nasal bridge, broad, fleshy nasal tip, mildly anteverted nares, deep nasolabial folds, broad mouth with thin upper lip) and skeletal anomalies (incl. abnormally placed thumbs, brachydactyly, scoliosis, dysplastic carpal bones). Patients also present severe behavior disturbances (aggression, hyperactivity), as well as hypopigmented skin lesions and hypoplastic digital patterns. There have been no further descriptions in the literature since 1992." }, "child_count": 0, "reference_id": "MONDO:0015941" }, { "id": 16671, "label": "Cornelia de Lange syndrome", "isLeaf": false, "isRoot": false, "parents": [ 4370, 5714, 16087, 18956 ], "type_id": 0, "properties": { "xrefs": [ "DOID:11725", "GARD:0010109", "MEDGEN:78752", "MedDRA:10056354", "NANDO:1200960", "NANDO:2200958", "NCIT:C75016", "NORD:1009", "OMIMPS:122470", "Orphanet:199", "UMLS:C0270972", "icd11.foundation:1801560012" ], "synonyms": [ "Brachmann-de Lange syndrome", "Cornelia de Lange syndrome", "CDLS" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "A rare syndrome characterized by low birth weight, delayed growth, intellectual disabillity, behavioral problems, and a distinctive facial appearance (thin, arched eyebrows, low set ears, small teeth, and small nose). The majority of cases are caused by mutations in the NIPBL gene. Less severe forms of the syndrome are caused by mutations in the SMC1A and SMC3 genes." }, "child_count": 24, "reference_id": "MONDO:0016033" }, { "id": 16698, "label": "cleft palate-short stature-vertebral anomalies syndrome", "isLeaf": true, "isRoot": false, "parents": [ 16087 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0001392", "MEDGEN:930373", "Orphanet:2015", "SCTID:719466009", "UMLS:C4304704" ], "synonyms": [ "Mathieu-De Broca-Bony syndrome", "cleft palate short stature vertebral anomalies" ], "definition": "Cleft palate- short stature- vertebral anomalies is a multiple congenital anomalies syndrome described in a father and son characterized by the association of cleft palate, peculiar facies (asymmetrical appearance, inner epicanthal folds, short nose, anteverted nostrils, low and back-oriented ears, thin upper lip and micrognathism), short stature, short neck, vertebral anomalies and intellectual disability. The transmission is presumed to be autosomal dominant. There have been no further descriptions in the literature since 1993." }, "child_count": 0, "reference_id": "MONDO:0016065" }, { "id": 16822, "label": "Hennekam syndrome", "isLeaf": false, "isRoot": false, "parents": [ 4370, 16087, 19154 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0060366", "GARD:0003318", "ICD9:457.1", "MEDGEN:137946", "OMIMPS:235510", "Orphanet:2136", "SCTID:234146006", "UMLS:C0340834", "icd11.foundation:162216708" ], "synonyms": [ "Hennekam lymphangiectasia lymphedema syndrome", "Hennekam lymphangiectasia-lymphedema syndrome", "lymphedema-lymphangiectasia-intellectual disability syndrome", "intestinal lymphagiectasia lymphedema intellectual deficit syndrome", "lymphangiectasies and lymphedema Hennekam type" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0004995", "name": "cardiovascular disorder" }, { "ref": "MONDO:0005046", "name": "immune system disorder" } ], "definition": "Hennekam syndrome is characterized by the association of lymphoedema, intestinal lymphangiectasia, intellectual deficit and facial dysmorphism." }, "child_count": 9, "reference_id": "MONDO:0016256" }, { "id": 16846, "label": "Hernández-Aguirre Negrete syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370, 16087 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0003491", "MEDGEN:419481", "MESH:C538112", "Orphanet:2139", "SCTID:721146009", "UMLS:C2931736" ], "synonyms": [ "intellectual disability-epilepsy-bulbous nose syndrome", "Ehlers-Danlos syndrome with progeroid facies and mild intellectual disability", "Ehlers-Danlos syndrome with progeroid facies and mild mental retardation" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "A syndrome is characterized by major seizures, dysmorphic features (round face, bulbous nose, wide mouth, prominent philtrum), pes planus, psychomotor retardation and obesity. It has been described in five children (three boys and two girls, one of whom died in infancy) from two unrelated Mexican families. This condition is likely to be transmitted as an autosomal recessive trait." }, "child_count": 0, "reference_id": "MONDO:0016290" }, { "id": 16852, "label": "holoprosencephaly", "isLeaf": false, "isRoot": false, "parents": [ 4370, 4427, 16087, 18727, 24270 ], "type_id": 0, "properties": { "xrefs": [ "DOID:4621", "GARD:0006665", "ICD10CM:Q04.2", "MEDGEN:38214", "MESH:D016142", "MedDRA:10056304", "NANDO:2200819", "NCIT:C74988", "NORD:1247", "OMIMPS:236100", "Orphanet:2162", "SCTID:30915001", "UMLS:C0079541", "icd11.foundation:1712699129" ], "synonyms": [ "HPE", "holoprosencephaly sequence" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" }, { "ref": "MONDO:0005151", "name": "endocrine system disorder" } ], "definition": "Holoprosencephaly (HPE) is a complex brain malformation resulting from incomplete cleavage of the prosencephalon, occurring between the 18th and 28th day of gestation, and affecting both the forebrain and face, which results in neurological manifestations and facial anomalies of variable severity." }, "child_count": 85, "reference_id": "MONDO:0016296" }, { "id": 16947, "label": "dysmorphism-short stature-deafness-disorder of sex development syndrome", "isLeaf": true, "isRoot": false, "parents": [ 16087, 19710 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0018764", "MEDGEN:1383129", "Orphanet:2282", "UMLS:C4518561" ], "synonyms": [ "Dysmorphism-short stature-deafness-pseudohermaphroditism syndrome" ], "categories": [ { "ref": "MONDO:0005039", "name": "reproductive system disorder" }, { "ref": "MONDO:0005151", "name": "endocrine system disorder" } ], "definition": "Dysmorphism-short stature-deafness-disorder of sex development syndrome is characterized by dysmorphism (including facial asymmetry, arched eyebrows, hypertelorism, broad and flat nasal bridge, microtia, small nose with anteverted nostrils, micrognathia), deafness, cleft palate, male pseudohermaphroditism, and growth and psychomotor retardation. It has been described in two siblings. It is transmitted as an autosomal recessive trait." }, "child_count": 0, "reference_id": "MONDO:0016433" }, { "id": 16967, "label": "5q14.3 microdeletion syndrome", "isLeaf": true, "isRoot": false, "parents": [ 16087, 17323 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0012166", "MEDGEN:930198", "Orphanet:228384", "SCTID:719661007", "UMLS:C4304529" ], "synonyms": [ "Del(5)(q14.3)", "monosomy 5q14.3", "5q14.3 deletion syndrome", "autosomal dominant intellectual disability 20", "chromosome 5q14.3 deletion syndrome" ], "definition": "The newly described 5q14.3 microdeletion syndrome includes severe intellectual deficit with no speech, stereotypic movements and epilepsy." }, "child_count": 0, "reference_id": "MONDO:0016456" }, { "id": 17015, "label": "Kabuki syndrome", "isLeaf": false, "isRoot": false, "parents": [ 4370, 5714, 16087 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0060473", "GARD:0006810", "MEDGEN:162897", "MESH:C537705", "MedDRA:10063935", "NANDO:1200672", "NANDO:2200956", "NCIT:C124837", "NORD:1318", "OMIMPS:147920", "Orphanet:2322", "SCTID:313426007", "UMLS:C0796004", "icd11.foundation:1104246467" ], "synonyms": [ "KMS", "Kabuki make-up syndrome", "Niikawa-Kuroki syndrome", "NKS" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "Kabuki syndrome (KS) is a multiple congenital anomaly syndrome characterized by typical facial features, skeletal anomalies, mild to moderate intellectual disability and postnatal growth deficiency." }, "child_count": 6, "reference_id": "MONDO:0016512" }, { "id": 17055, "label": "ptosis-syndactyly-learning difficulties syndrome", "isLeaf": true, "isRoot": false, "parents": [ 16087 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0025077", "Orphanet:238766" ] }, "child_count": 0, "reference_id": "MONDO:0016560" }, { "id": 17064, "label": "macrocephaly-short stature-paraplegia syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370, 4427, 16087, 19709 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0000172", "MEDGEN:419845", "MESH:C537718", "Orphanet:2427", "SCTID:722033000", "UMLS:C2931595" ], "synonyms": [ "Volcke Soekarman syndrome", "Volcke-Soekarman syndrome", "macrocephaly, intellectual disability, short stature, spastic paraplegia and cns malformations" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "Macrocephaly-short stature-paraplegia syndrome is characterized by macrocephaly and midface hypoplasia, intellectual deficit, short stature, spastic paraplegia and severe central nervous system anomalies (hydrocephalus and Dandy-Walker malformation). It has been described in two unrelated adults." }, "child_count": 0, "reference_id": "MONDO:0016571" }, { "id": 17118, "label": "Warburg micro syndrome", "isLeaf": false, "isRoot": false, "parents": [ 7611, 16087, 18774, 24642 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0060237", "GARD:0005534", "MEDGEN:1781286", "NORD:1898", "OMIMPS:600118", "Orphanet:2510", "UMLS:C5442005" ], "synonyms": [ "WARBM", "Warburg micro syndrome", "micro syndrome", "microcephaly, microcornea, congenital cataract, intellectual disability, optic atrophy and hypogenitalism", "microcephaly, microcornea, congenital cataract, mental retardation, optic atrophy and hypogenitalism" ], "categories": [ { "ref": "MONDO:0002022", "name": "disorder of orbital region" }, { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" }, { "ref": "MONDO:0024458", "name": "disorder of visual system" } ], "definition": "Micro syndrome is an autosomal recessive disorder caracterised by ocular and neurodevelopmental defects and by microgenitalia. It presents with severe intellectual disability, microcephaly, congenital cataract, microcornea, microphthalmia, agenesis/hypoplasia of the corpus callosum, and hypogenitalism." }, "child_count": 16, "reference_id": "MONDO:0016649" }, { "id": 17177, "label": "microcephaly-seizures-intellectual disability-heart disease syndrome", "isLeaf": true, "isRoot": false, "parents": [ 16087 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0018774", "MEDGEN:419830", "MESH:C537544", "Orphanet:2519", "UMLS:C2931529" ], "synonyms": [ "microcephaly seizures intellectual disability heart disorders", "microcephaly seizures mental retardation heart disorders", "microcephaly, seizures, intellectual disability, congenital heart disease, and skeletal abnormalities", "microcephaly, seizures, mental retardation, congenital heart disease, and skeletal abnormalities" ], "definition": "Microcephaly-seizures-intellectual disability-heart disease syndrome is characterized by intellectual deficit, a cardiac anomaly, micropenis, hypothyroidism, epileptic seizures, and skeletal anomalies. It has been described in two males." }, "child_count": 0, "reference_id": "MONDO:0016719" }, { "id": 17198, "label": "microcephaly-cleft palate syndrome", "isLeaf": true, "isRoot": false, "parents": [ 16087 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0008623", "MEDGEN:419293", "MESH:C535622", "Orphanet:2521", "SCTID:719394002", "UMLS:C2930954" ], "synonyms": [ "Halal syndrome", "microcephaly cleft palate autosomal dominant", "microcephaly-cleft palate-abnormal retinal pigmentation syndrome" ], "definition": "Microcephaly-cleft palate-abnormal retinal pigmentation syndrome is a rare orofacial clefting syndrome characterized by microcephaly, cleft of the secondary palate and other variable abnormalities, including abnormal retinal pigmentation, facial dysmorphism with hypotelorism and maxillary hypoplasia. Goiter, camptodactyly, abnormal dermatoglyphics and mild intellectual disability may also be associated. There have been no further descriptions in the literature since 1983." }, "child_count": 0, "reference_id": "MONDO:0016750" }, { "id": 17205, "label": "microcephaly-microcornea syndrome, Seemanova type", "isLeaf": true, "isRoot": false, "parents": [ 4370, 16087, 21415 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0003627", "MEDGEN:419433", "MESH:C537539", "Orphanet:2528", "SCTID:715464002", "UMLS:C2931524", "icd11.foundation:1197077842" ], "synonyms": [ "Seemanova-Lesny syndrome", "Seemanova Lesny syndrome", "X-linked microcephaly, microphthalmia, microcornea, congenital cataract, hypogenitalism, mental deficiency, growth retardation", "microcephaly microcornea syndrome Seemanova type" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0024458", "name": "disorder of visual system" } ], "definition": "Microcephaly-microcornea syndrome, Seemanova type is characterized by microcephaly and brachycephaly, eye anomalies (microphthalmia, microcornea, congenital cataract), hypogenitalism, severe intellectual deficit, growth retardation and progressive spasticity. It has been described in two patients (a male and his sister's son). Both patients also presented with facial dysmorphism, including upslanting palpebral fissures, epicanthal folds, highly arched palate, microstomia, and retrognathia. This syndrome is transmitted as an X-linked trait." }, "child_count": 0, "reference_id": "MONDO:0016760" }, { "id": 17221, "label": "multiple congenital anomalies due to 14q32.2 maternally expressed gene defect", "isLeaf": false, "isRoot": false, "parents": [ 16087, 24225 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0111712", "GARD:0017219", "MEDGEN:1830421", "Orphanet:254519", "UMLS:C5779872" ], "synonyms": [ "Kagami-Ogata syndrome", "MCA due to 14q32.2 maternally expressed gene defect" ], "definition": "A rare genetic disease characterized by polyhydramnios (mostly due to placentomegaly), fetal macrosomia, abdominal wall defects, skeletal abnormalities (including bell-shaped thorax, coat-hanger appearance of the ribs and decreased mid to wide thorax diameter ratio in infancy), feeding difficulties and impaired swallowing, dysmorphic features (hairy forehead, full cheeks, protruding philtrum, micrognathia), developmental delay and intellectual disability. Additional features may include kyphoskoliosis, joint contractures, diastasis recti, muscular hypotonia. There is increased risk of hepatoblastoma." }, "child_count": 6, "reference_id": "MONDO:0016779" }, { "id": 17428, "label": "neuroectodermal-endocrine syndrome", "isLeaf": true, "isRoot": false, "parents": [ 16071, 16087 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0003959", "Orphanet:2676", "SCTID:724090001" ], "synonyms": [ "Oerter-Friedman-Anderson syndrome", "neuroectodermal endocrine syndrome" ], "categories": [ { "ref": "MONDO:0005151", "name": "endocrine system disorder" } ], "definition": "Neuroectodermal-endocrine syndrome is characterized by a combination of endocrine and neuroectodermal abnormalities, including low growth hormone levels, delayed puberty, type II diabetes mellitus, mild intellectual deficit, sensorineural deafness, characteristic facial appearance and alopecia. It has been described in four sibs from Myanmar." }, "child_count": 0, "reference_id": "MONDO:0017045" }, { "id": 17498, "label": "Opitz G/BBB syndrome", "isLeaf": false, "isRoot": false, "parents": [ 4370, 5714, 9827, 16087 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0050780", "DOID:0080697", "GARD:0000193", "ICD9:758.89", "NCIT:C125487", "OMIMPS:300000", "Orphanet:2745", "SCTID:81771002" ], "synonyms": [ "Opitz G syndrome", "Opitz G/BBB syndrome", "Opitz GBBB syndrome", "Opitz syndrome", "Opitz-Frias syndrome", "Opitz-GBBB syndrome", "hypertelorism-oesophageal abnormality-hypospadias syndrome", "hypospadias-dysphagia syndrome", "hypospadias-hypertelorism syndrome", "BBB syndrome", "G syndrome", "GBBB syndrome", "Opitz BBBG syndrome", "Opitz-G syndrome, type 2", "hypertelorism hypospadias syndrome", "hypertelorism with esophageal abnormality and hypospadias", "hypospadias-dysphagia, syndrome", "telecanthus with associated abnormalities" ], "categories": [ { "ref": "MONDO:0002022", "name": "disorder of orbital region" }, { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0024458", "name": "disorder of visual system" } ], "definition": "Opitz G/BBB syndrome (OS) is a multiple congenital anomalies disorder characterized by malformations of the midline including hypertelorism, laryngo-tracheo-esophalgeal defects and hypospadias. There are two clinically indistinguishable genetic subtypes of Opitz G/BBB: X-linked Opitz G/BBB syndrome (XLOS), and autosomal dominant Opitz G/BBB syndrome (ADOS)." }, "child_count": 4, "reference_id": "MONDO:0017138" }, { "id": 17608, "label": "Xp22.13p22.2 duplication syndrome", "isLeaf": true, "isRoot": false, "parents": [ 16087, 17412 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0021117", "MEDGEN:1684472", "Orphanet:284180", "UMLS:C5190686" ], "synonyms": [ "Duplication Xp22", "dup(X)(p22)", "dup(X)(p22.13p22.2)" ] }, "child_count": 0, "reference_id": "MONDO:0017284" }, { "id": 17634, "label": "short stature-webbed neck-heart disease syndrome", "isLeaf": true, "isRoot": false, "parents": [ 16087 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0000583", "MEDGEN:419677", "MESH:C535613", "Orphanet:2865", "SCTID:721073008", "UMLS:C2930950" ], "synonyms": [ "Al Gazali-Aziz-Salem syndrome", "Al Gazali Aziz Salem syndrome", "short stature, intellectual disability, facial dysmorphism, short webbed neck, skin changes and congenital heart disease", "short stature, webbed neck, heart disease" ], "definition": "Short stature-webbed neck-heart disease syndrome is characterized by short stature, intellectual deficit, facial dysmorphism, short webbed neck, skin changes and congenital heart defects. It has been reported in four Arab Bedouin sibs born to consanguineous parents." }, "child_count": 0, "reference_id": "MONDO:0017315" }, { "id": 17653, "label": "microtriplication 11q24.1", "isLeaf": true, "isRoot": false, "parents": [ 16087, 20824 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0021142", "MEDGEN:1656562", "Orphanet:289522", "UMLS:C4749373" ], "synonyms": [ "tetrasomy 11q24.1" ], "definition": "Microtriplication 11q24.1 is an extremely rare partial autosomal tetrasomy, resulting from a partial triplication of the long arm of chromosome 11, characterized by intellectual disability (with severe verbal impairment), short stature with small extremities, keratoconus and distinctive facial features (round, course face, upward slanting palpebral fissures, mild synophris, large nose with thick ala nasi and triangular tip, large mouth with broad lips, short and smooth philtrum, large protruded chin, ears with adherent lobules). Additionally, patients are overweight and present hypercholesterolemia." }, "child_count": 0, "reference_id": "MONDO:0017335" }, { "id": 17687, "label": "preaxial polydactyly-colobomata-intellectual disability syndrome", "isLeaf": true, "isRoot": false, "parents": [ 16087 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0004304", "MEDGEN:444110", "MESH:C537888", "Orphanet:2921", "SCTID:733088002", "UMLS:C2931655" ], "synonyms": [ "Pfeiffer-Mayer syndrome", "Pfeiffer Mayer syndrome", "short stature intellectual disability type I preaxial polydactyly with colobomatous abnormalities", "short stature mental retardation type I preaxial polydactyly with colobomatous abnormalities" ], "definition": "Preaxial polydactyly-colobomata-intellectual disability syndrome is characterized by growth retardation, intellectual deficit, preaxial polydactyly and colobomatous anomalies. It has been described in one pair of sibs (brother and sister). The mode of transmission is thought to be autosomal recessive." }, "child_count": 0, "reference_id": "MONDO:0017377" }, { "id": 17701, "label": "blepharophimosis - intellectual disability syndrome", "isLeaf": false, "isRoot": false, "parents": [ 16087 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0010892", "MEDGEN:1698793", "Orphanet:293642", "UMLS:C5229849" ], "synonyms": [ "BMRS", "SBBYS syndrome", "Say Barber Biesecker Young-Simpson syndrome", "Young Simpson syndrome", "blepharophimosis intellectual disability syndromes", "blepharophimosis mental retardation syndromes", "blepharophimosis syndrome Ohdo type" ] }, "child_count": 4, "reference_id": "MONDO:0017393" }, { "id": 17705, "label": "3MC syndrome", "isLeaf": false, "isRoot": false, "parents": [ 5714, 16087 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0060225", "GARD:0001118", "MEDGEN:929529", "NANDO:2200792", "OMIMPS:257920", "Orphanet:293843", "SCTID:720756005", "UMLS:C4303860", "icd11.foundation:1294329406" ], "synonyms": [ "Malpuech-Michels-Mingarelli-Carnevale syndrome", "craniofacial-ulnar-renal syndrome" ], "definition": "3MC syndrome describes a rare developmental disorder, that unifies the overlapping autosomal recessive disorders previously known as Carnevale, Mingarelli, Malpuech and Michels syndromes, characterized by a spectrum of developmental anomalies that include distinctive facial dysmorphism (i.e. hypertelorism, blepharophimosis, blepharoptosis, highly arched eyebrows), cleft lip and/or palate, craniosynostosis, learning disability, radioulnar synostosis and genital and vesicorenal anomalies. Less common features reported include anterior chamber defects, cardiac anomalies (e.g. ventricular septal defect), caudal appendage, umbilical hernia/omphalocele and diastasis recti." }, "child_count": 6, "reference_id": "MONDO:0017398" }, { "id": 17860, "label": "Baraitser-Winter cerebrofrontofacial syndrome", "isLeaf": false, "isRoot": false, "parents": [ 4370, 16087, 18774 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0060229", "GARD:0005279", "ICD9:759.89", "MEDGEN:340016", "OMIMPS:243310", "Orphanet:2995", "SCTID:702410002", "UMLS:C1853623" ], "synonyms": [ "Baraitser-Winter syndrome", "BRWS", "Fryns-Aftimos syndrome", "cerebro-frontofacial syndrome, type 3", "iris coloboma with ptosis hypertelorism and intellectual disability", "iris coloboma with ptosis hypertelorism and mental retardation", "trigonocephaly ptosis coloboma", "trigonocephaly ptosis intellectual disability", "trigonocephaly ptosis mental retardation" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "Baraitser-Winter syndrome (BWS) is a malformation syndrome, characterized by facial dysmorphism (hypertelorism with ptosis, broad bulbous nose, ridged metopic suture, arched eyebrows, progressive coarsening of the face), ocular coloboma, pachygyria and/or band heterotopias with antero-posterior gradient, progressive joint stiffening, and intellectual deficit of variable severity, often with severe epilepsy. Pachygyria - epilepsy - intellectual disability - dysmorphism (Fryns-Aftimos syndrome (FA)) corresponds to the appearance of BWS in elderly patients." }, "child_count": 6, "reference_id": "MONDO:0017579" }, { "id": 17861, "label": "11p15.4 microduplication syndrome", "isLeaf": true, "isRoot": false, "parents": [ 16087, 17363, 19480 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0021232", "MEDGEN:1660019", "Orphanet:300305", "UMLS:C4749508" ], "synonyms": [ "dup(11)p(15.4)", "trisomy 11p15.4" ], "definition": "11p15.4 microduplication syndrome is a rare partial autosomal trisomy/tetrasomy characterized by obesity, global developmental delay and intellectual disability, facial dysmorphism (synophrys, high-arched eyebrows, large posteriorly rotated ears, upturned nose, long smooth philtrum, overbite and high palate), large hands and limb hypotonia. Additional features include seizures and behavioral abnormalities." }, "child_count": 0, "reference_id": "MONDO:0017580" }, { "id": 17891, "label": "X-linked intellectual disability-hypogonadism-ichthyosis-obesity-short stature syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4427, 16087, 19742 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0000345", "MEDGEN:162925", "MESH:C536715", "Orphanet:3055", "UMLS:C0796264" ], "synonyms": [ "Young-Hughes syndrome", "Sex-linked intellectual disability, short stature, obesity and hypogonadism", "Sex-linked mental retardation, short stature, obesity and hypogonadism", "X-linked intellectual disability - short stature – obesity" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "X-linked intellectual disability-hypogonadism-ichthyosis-obesity-short stature syndrome is a rare X-linked intellectual disability syndrome characterized by intellectual disability associated with short stature, obesity, primary hypogonadism and an ichthyosiform skin condition. There have been no further descriptions in the literature since 1982." }, "child_count": 0, "reference_id": "MONDO:0017614" }, { "id": 17918, "label": "intellectual disability-short stature-hypertelorism syndrome", "isLeaf": true, "isRoot": false, "parents": [ 16087 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0003514", "MEDGEN:1665709", "Orphanet:3074", "UMLS:C4749650" ], "synonyms": [ "Stoll-GC)raudel-Chauvin syndrome", "Stoll-Géraudel-Chauvin syndrome", "intellectual deficit - short stature - hypertelorism", "intellectual disability short stature hypertelorism", "mental retardation short stature hypertelorism" ], "definition": "Intellectual disability-short stature-hypertelorism syndrome is a rare genetic syndromic intellectual disability affecting males characterized by short stature, mild to moderate intellectual deficits, craniofacial dysmorphism (prominent broad 'square' forehead, hypertelorism, depressed nasal bridge, broad nasal tip and anteverted nares) and early hypotonia present only until the age of 2. There have been no further descriptions in the literature since the original article in 1991 and it has been suggested that this condition represents an example of FG syndrome." }, "child_count": 0, "reference_id": "MONDO:0017668" }, { "id": 17922, "label": "intellectual disability-polydactyly-uncombable hair syndrome", "isLeaf": true, "isRoot": false, "parents": [ 16087 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0003141", "MEDGEN:444082", "MESH:C537615", "Orphanet:3082", "UMLS:C2931547" ], "synonyms": [ "Kozlowski-Krajewska syndrome", "intellectual disability, postaxial polydactyly, phalangeal hypoplasia, 2-3 toe syndactyly, unusual face, uncombable hair", "mental retardation, postaxial polydactyly, phalangeal hypoplasia, 2-3 toe syndactyly, unusual face, uncombable hair" ], "definition": "Intellectual disability-polydactyly-uncombable hair syndrome is a multiple congenital anomalies/dysmorphic syndrome characterized by intellectual disability, postaxial polydactyly, phalangeal hypoplasia, 2-3 toe syndactyly, uncombable hair and facial dysmorphism (including frontal bossing, hypotelorism, narrow palpebral fissures, nasal bridge and lips, prominent nasal root, large abnormal ears with prominent antihelix, poorly folded helix, underdeveloped lobule and antitragus, and micrognathia evolving into prognatism). Cryptorchidism, conductive hearing loss and progressive thoracic kyphosis were also reported." }, "child_count": 0, "reference_id": "MONDO:0017682" }, { "id": 18003, "label": "20p13 microdeletion syndrome", "isLeaf": true, "isRoot": false, "parents": [ 16087, 17319 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0021360", "MEDGEN:1655817", "Orphanet:313781", "UMLS:C4750789" ], "synonyms": [ "20p subtelomeric deletion syndrome", "Del(20)(p13)", "monosomy 20p13" ], "definition": "20p13 microdeletion syndrome is a rare chromosomal anomaly characterized by developmental delay, mild to moderate intellectual disability, epilepsy, and unspecific dysmorphic signs. High palate, delayed permanent tooth eruption, hypoplastic fingernails, clinodactyly and short fingers have also been reported." }, "child_count": 0, "reference_id": "MONDO:0017780" }, { "id": 18015, "label": "7p22.1 microduplication syndrome", "isLeaf": true, "isRoot": false, "parents": [ 2961, 4427, 16087, 17360 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0021367", "MEDGEN:1641886", "Orphanet:314034", "SCTID:764703002", "UMLS:C4707093" ], "synonyms": [ "dup(7)(p22.1)", "trisomy 7p22.1" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "7p22.1 microduplication syndrome is a rare chromosomal anomaly syndrome, resulting from a partial interstitial microduplication of the short arm of chromosome 7, characterized by intellectual disability, psychomotor and speech delays, craniofacial dysmorphism (including macrocephaly, frontal bossing, hypertelorism, abnormally slanted palpebral fissures, anteverted nares, low-set ears, microretrognathia) and cryptorchidia. Cardiac (e.g., patent foramen ovale and atrial septal defect), as well as renal, skeletal and ocular abnormalities may also be associated." }, "child_count": 0, "reference_id": "MONDO:0017792" }, { "id": 18026, "label": "intellectual disability-hypotonia-brachycephaly-pyloric stenosis-cryptorchidism syndrome", "isLeaf": true, "isRoot": false, "parents": [ 16087, 23979 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0021379", "MEDGEN:1655593", "Orphanet:314575", "UMLS:C4751073" ], "categories": [ { "ref": "MONDO:0004335", "name": "digestive system disorder" } ] }, "child_count": 0, "reference_id": "MONDO:0017805" }, { "id": 18027, "label": "15q overgrowth syndrome", "isLeaf": false, "isRoot": false, "parents": [ 16087, 17378, 19480 ], "type_id": 0, "properties": { "xrefs": [ "DECIPHER:81", "GARD:0017423", "MEDGEN:1661769", "Orphanet:314585", "UMLS:C4749920" ], "synonyms": [ "15q26 overgrowth syndrome" ], "definition": "15q overgrowth syndrome is a rare partial autosomal trisomy/tetrasomy characterized by facial dysmorphism (long thin face, prominent forehead, down-slanting palpebral fissures, prominent nose with broad nasal bridge, prominent chin), pre- and postnatal overgrowth, renal anomalies (e.g. horseshoe kidney, renal agenesis, hydronephrosis), mild to severe learning difficulties and behavioral abnormalities. Additional features may include craniosynostosis and macrocephaly." }, "child_count": 6, "reference_id": "MONDO:0017806" }, { "id": 18034, "label": "van Maldergem syndrome", "isLeaf": false, "isRoot": false, "parents": [ 5714, 16087 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0060238", "GARD:0005456", "MEDGEN:318616", "OMIMPS:601390", "Orphanet:314679", "UMLS:C1832390" ], "synonyms": [ "Van Maldergem syndrome", "Van Maldergem Wetzburger Verloes syndrome", "cerebro-facio-articular syndrome of Van Maldergem" ], "definition": "A rare multiple congenital anomalies syndrome characterized by mild to severe intellectual disability, a distinctive facial gestalt (blepharophimosis, maxillary hypoplasia, telecanthus, microtia and atresia of the external auditory meatus) as well as skeletal and articular abnormalities (e.g. camptodactyly of the fingers, cutaneous syndactyly, talipes equinovarus, flexion contractures of the proximal interphalangeal joints, hip or elbow subluxation, joint laxity). Affected individuals also present neonatal hypotonia, variable respiratory manifestations, chronic feeding difficulties and gray matter heterotopia." }, "child_count": 4, "reference_id": "MONDO:0017813" }, { "id": 18082, "label": "distal 17p13.1 microdeletion syndrome", "isLeaf": true, "isRoot": false, "parents": [ 14447, 16087 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0010996", "MEDGEN:1657963", "Orphanet:319171", "UMLS:C4749349" ], "synonyms": [ "distal del(17)(p13.1)" ], "definition": "Distal 17p13.1 microdeletion syndrome is a rare chromosomal anomaly syndrome characterized by mild global developmental delay/intellectual disability with poor to absent speech, dysmorphic features (long midface, retrognathia with overbite, protruding ears), microcephaly, failure to thrive, wide-based gait and a body posture with knee and elbow flexion and hands held in a midline." }, "child_count": 0, "reference_id": "MONDO:0017867" }, { "id": 18121, "label": "deafness-genital anomalies-metacarpal and metatarsal synostosis syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370, 16087 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0004303", "MEDGEN:419464", "MESH:C537887", "Orphanet:3224", "SCTID:721086004", "UMLS:C2931654" ], "synonyms": [ "Pfeiffer-Kapferer syndrome", "Pfeiffer Kapferer syndrome", "sensorineural deafness, hypospadias, and synostosis of metacarpals and metatarsals 4 and 5", "short stature, intellectual disability and multiple dysmorphisms", "short stature, mental retardation and multiple dysmorphisms" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "Deafness-genital anomalies-metacarpal and metatarsal synostosis syndrome is characterized by sensorineural deafness, bilateral synostosis of the 4th and 5th metacarpals and metatarsals, genital anomalies (hypospadias in males), psychomotor delay and abnormal dermatoglyphics. So far, it has been described in two unrelated patients. Facial dysmorphism was noted in both patients (prominent forehead, ear anomalies, facial asymmetry and an open mouth appearance)." }, "child_count": 0, "reference_id": "MONDO:0017920" }, { "id": 18132, "label": "muscular hypertrophy-hepatomegaly-polyhydramnios syndrome", "isLeaf": true, "isRoot": false, "parents": [ 16087 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0021441", "MEDGEN:1665387", "Orphanet:324416", "UMLS:C4751007" ] }, "child_count": 0, "reference_id": "MONDO:0017932" }, { "id": 18134, "label": "aphonia-deafness-retinal dystrophy-bifid halluces-intellectual disability syndrome", "isLeaf": true, "isRoot": false, "parents": [ 16087 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0021443", "MEDGEN:1651057", "Orphanet:324540", "UMLS:C4751006" ], "synonyms": [ "aphonia-deafness-retinal dystrophy-duplicated halluces-intellectual disability syndrome", "aphonia-hearing loss-retinal dystrophy-duplicated halluces-intellectual disability syndrome" ], "definition": "Aphonia-deafness-retinal dystrophy-bifid halluces-intellectual disability syndrome is a rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by moderate to severe intellectual disability, congenital aphonia, hearing loss, optic atrophy, retinal dystrophy, broad thumbs and duplicated halluces. Facial dysmorphism (incl. thick eyebrows, ptosis, long, downslanting palpebral fissures, microstomia, low-set, posteriorly rotated ears) and genital abnormalities are also associated." }, "child_count": 0, "reference_id": "MONDO:0017934" }, { "id": 18171, "label": "spondylocostal dysostosis-hypospadias-intellectual disability syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370, 5714, 16087 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0025124", "MEDGEN:1665083", "Orphanet:329252", "UMLS:C4751002" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ] }, "child_count": 0, "reference_id": "MONDO:0017995" }, { "id": 18172, "label": "telecanthus-hypertelorism-strabismus-pes cavus syndrome", "isLeaf": true, "isRoot": false, "parents": [ 16087 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0018791", "Orphanet:3293" ], "definition": "Telecanthus-hypertelorism-strabismus-pes cavus syndrome is characterized by telecanthus, hypertelorism, strabismus, pes cavus and other variable anomalies. It has been described in a father and his son. The son also had hypospadias, bilateral inguinal hernia, clinodactyly and camptodactyly of the fingers, and radiographic findings including flared metaphyses of the long bones and osteopenia." }, "child_count": 0, "reference_id": "MONDO:0017997" }, { "id": 18251, "label": "microcephaly-brachydactyly-kyphoscoliosis syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370, 5714, 6893, 16087, 18956 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0005490", "MEDGEN:419731", "MESH:C536349", "Orphanet:3433", "SCTID:719378009", "UMLS:C2931177" ], "synonyms": [ "Viljoen-Kallis-Voges syndrome", "Viljoen Kallis Voges syndrome", "microcephaly brachydactyly kyphoscoliosis", "microcephaly, short stature, brachydactyly type D, flattened occiput, low-set large ears, prominent nose, kyphoscoliosis and intellectual disability" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "Microcephaly-brachydactyly-kyphoscoliosis syndrome is characterized by profound intellectual deficit in association with microcephaly, short stature, brachydactyly type D, a flattened occiput, downslanting palpebral fissures, low-set large ears, a broad prominent nose and kyphoscoliosis. It has been described in three sisters. The disorder is likely to be transmitted as an autosomal recessive trait." }, "child_count": 0, "reference_id": "MONDO:0018091" }, { "id": 18255, "label": "Weaver-Williams syndrome", "isLeaf": true, "isRoot": false, "parents": [ 16087 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0005545", "MEDGEN:1392915", "Orphanet:3448", "UMLS:C0796198" ], "definition": "Weaver-Williams syndrome is a multiple congenital anomalies syndrome characterized by moderate-to-severe intellectual disability, decreased muscle mass, microcephaly, facial dysmorphism (prominent ears, midfacial hypoplasia, small mouth and cleft palate), clinodactyly of the fingers, delayed osseous maturation and generalized bone hypoplasia. The syndrome has been described in a brother and sister and an autosomal recessive mode of inheritance has been suggested. There have been no further descriptions in the literature since 1977." }, "child_count": 0, "reference_id": "MONDO:0018095" }, { "id": 18337, "label": "20q11.2 microduplication syndrome", "isLeaf": true, "isRoot": false, "parents": [ 16087, 17383 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0021556", "MEDGEN:1639138", "Orphanet:363659", "SCTID:763061004", "UMLS:C4706257" ], "synonyms": [ "dup(20)(q11.2)" ], "definition": "20q11.2 microduplication syndrome is a rare chromosomal anomaly syndrome, due to partial duplication of the long arm of chromosome 20, characterized by psychomotor and developmental delay, moderate intellectual disability, metopic ridging/trigonocephaly, short hands and/or feet and distinctive facial features (epicanthus, hypoplastic supraorbital ridges, horizontal/downslanting palpebral fissures, small nose with depressed nasal bridge and anteverted nostrils, prominent cheeks, retrognathia and small, thick ears). Growth delay and cryptororchidism are often associated features." }, "child_count": 0, "reference_id": "MONDO:0018204" }, { "id": 18340, "label": "2p13.2 microdeletion syndrome", "isLeaf": true, "isRoot": false, "parents": [ 16087, 17309 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0021557", "MEDGEN:1662313", "Orphanet:363680", "UMLS:C4749460" ], "synonyms": [ "Del(2)(p13.2)" ], "definition": "2p13.2 microdeletion syndrome is a rare partial autosomal monosomy characterized by global development delay, intellectual disability, behavioral abnormalities (hyperactivity, attention deficit and autistic behaviors), brachycephaly and variable facial dysmorphism. Other associated features may include vertebral fusions, mild contractures of knees and elbows, and feeding difficulties during infancy." }, "child_count": 0, "reference_id": "MONDO:0018207" }, { "id": 18370, "label": "intellectual disability-seizures-macrocephaly-obesity syndrome", "isLeaf": true, "isRoot": false, "parents": [ 16087 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0021583", "MEDGEN:1650833", "Orphanet:369950", "UMLS:C4749455" ], "synonyms": [ "Der(8)t(8;12)" ], "definition": "Intellectual disability-seizures-macrocephaly-obesity syndrome is a rare syndromic obesity due to complex chromosomal rearrangement characterized by development delay and intellectual disability, childhood-onset obesity, seizures, poor coordination and broad-based gait, macrocephaly and mild dysmorphic features (such as narrow palpebral fissures, malar hypoplasia and thin upper lips), eczema, ocular abnormalities and a social personality." }, "child_count": 0, "reference_id": "MONDO:0018248" }, { "id": 18374, "label": "intellectual disability-facial dysmorphism-hand anomalies syndrome", "isLeaf": true, "isRoot": false, "parents": [ 16087 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0021585", "MEDGEN:1655582", "Orphanet:370010", "UMLS:C4750848" ] }, "child_count": 0, "reference_id": "MONDO:0018253" }, { "id": 18391, "label": "XYLT1-congenital disorder of glycosylation", "isLeaf": true, "isRoot": false, "parents": [ 16087, 16168, 16198 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0021599", "MEDGEN:1659170", "Orphanet:370930", "UMLS:C4750849" ], "synonyms": [ "XYLT1-CDG - xylosyltransferase 1 congenital disorder of glycosylation", "XYLT1-congenital disorder of glycosylation", "XYLT18-CDG" ] }, "child_count": 0, "reference_id": "MONDO:0018273" }, { "id": 18430, "label": "3q27.3 microdeletion syndrome", "isLeaf": true, "isRoot": false, "parents": [ 2961, 3128, 4427, 16087 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0021633", "MEDGEN:1651953", "Orphanet:397695", "UMLS:C4749427" ], "synonyms": [ "Del(3)(q27.3)" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "A rare chromosomal anomaly syndrome, resulting from the partial deletion of the long arm of chromosome 3, characterized by mild to severe intellectual disability, neuropsychiatric disorders of the psychotic and dysthymic spectrum, mild distinctive facial dysmorphism (incl. slender face, deep-set eyes, high nasal bridge with a hooked nose, small, low- set ears, short philtrum, small mouth with thin upper lip, prognathism) and a marfanoid habitus." }, "child_count": 0, "reference_id": "MONDO:0018341" }, { "id": 18476, "label": "9q31.1q31.3 microdeletion syndrome", "isLeaf": true, "isRoot": false, "parents": [ 2961, 4427, 16087, 17327 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0021705", "MEDGEN:1665719", "Orphanet:401923", "UMLS:C4750910" ], "synonyms": [ "Del(9)(q31.1q31.3)", "monosomy 9q31.1q31.3" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ] }, "child_count": 0, "reference_id": "MONDO:0018428" }, { "id": 18477, "label": "14q24.1q24.3 microdeletion syndrome", "isLeaf": true, "isRoot": false, "parents": [ 16087, 17331 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0021706", "MEDGEN:1668571", "Orphanet:401935", "UMLS:C4750911" ], "synonyms": [ "Del(14)(q24.1q24.3)", "monosomy 14q24.1q24.3" ] }, "child_count": 0, "reference_id": "MONDO:0018429" }, { "id": 18490, "label": "FBLN1-related developmental delay-central nervous system anomaly-syndactyly syndrome", "isLeaf": true, "isRoot": false, "parents": [ 16087 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0021717", "MEDGEN:1650412", "Orphanet:404451", "UMLS:C4751506" ] }, "child_count": 0, "reference_id": "MONDO:0018443" }, { "id": 18514, "label": "13q12.3 microdeletion syndrome", "isLeaf": true, "isRoot": false, "parents": [ 16087, 17330, 19129 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0021737", "MEDGEN:1657124", "Orphanet:412035", "UMLS:C4750951" ], "synonyms": [ "Del(13)(q12.3)", "monosomy 13q12.3" ], "categories": [ { "ref": "MONDO:0002051", "name": "integumentary system disorder" } ], "definition": "13q12.3 microdeletion syndrome is a rare chromosomal anomaly characterized by moderate intellectual disability, speech delay, postnatal microcephaly, eczema or atopic dermatitis, characteristic facial features (malar flattening, prominent nose, underdeveloped alae nasi, smooth philtrum, and thin vermillion of the upper lip), and reduced sensitivity to pain." }, "child_count": 0, "reference_id": "MONDO:0018474" }, { "id": 18527, "label": "cono-spondylar dysplasia", "isLeaf": true, "isRoot": false, "parents": [ 16087, 17206 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0021750", "MEDGEN:1638945", "Orphanet:420794", "SCTID:766874001", "UMLS:C4707860" ], "synonyms": [ "short stature-kyphosis-hypoplasia of basal ilia-cone epiphyses-facial dysmorphism syndrome" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" } ], "definition": "Cono-spondylar dysplasia is a rare genetic primary bone dysplasia disorder characterized by early-onset severe lumbar kyphosis, marked brachydactyly and irregular, pronounced cone epiphyses of the metacarpals and phalanges. Additional reported features include developmental delay, intellectual disability, hypotonia, epileptic seizures and mild facial dysmorphism (incl. long and thin or square-shaped face, slight mid-face hypoplasia, hypertelorism, epicanthic folds, low-set ears, anteverted nostrils). Radiographic findings also reveal hypoplasia of iliac wings and anterior defect of vertebral bodies." }, "child_count": 0, "reference_id": "MONDO:0018490" }, { "id": 18531, "label": "microcephaly-short stature-intellectual disability-facial dysmorphism syndrome", "isLeaf": true, "isRoot": false, "parents": [ 16087 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0021751", "MEDGEN:1659920", "Orphanet:423306", "UMLS:C4749647" ], "definition": "Microcephaly-short stature-intellectual disability-facial dysmorphism syndrome is a rare genetic malformation syndrome with short stature characterized by postnatal microcephaly, failure to thrive and short stature, global developmental delay and intellectual disability, hypotonia, dysmorphic features (short nose, depressed nasal bridge, low set ears, short neck, clinodactyly and cutaneous syndactyly of T2-3 at birth and broad forehead, midface retrusion, epicanthal folds, laterally sparse eyebrows, short nose, long philtrum, widely spaced teeth, micrognathia and coarsening of facial features later in life). Other associated features include postnatal transient generalized edema, myopia, strabismus, hypothyroidism." }, "child_count": 0, "reference_id": "MONDO:0018494" }, { "id": 18581, "label": "severe intellectual disability-hypotonia-strabismus-coarse face-planovalgus syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370, 16087 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0021817", "MEDGEN:1808836", "Orphanet:436141", "UMLS:C5681179" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ] }, "child_count": 0, "reference_id": "MONDO:0018572" }, { "id": 18629, "label": "11q22.2q22.3 microdeletion syndrome", "isLeaf": true, "isRoot": false, "parents": [ 16087, 17329 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0021858", "MEDGEN:1805294", "Orphanet:444002", "UMLS:C5680062" ], "synonyms": [ "11q22.2-q22.3 deletion syndrome", "Del(11)(q22.2q22.3)", "monosomy 11q22.2-q22.3", "monosomy 11q22.2q22.3" ] }, "child_count": 0, "reference_id": "MONDO:0018632" }, { "id": 18630, "label": "20q11.2 microdeletion syndrome", "isLeaf": true, "isRoot": false, "parents": [ 16087, 17336 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0021859", "MEDGEN:1810637", "Orphanet:444051", "UMLS:C5680063" ], "synonyms": [ "Del(20)(q11.2)", "monosomy 20q11" ], "definition": "20q11.2 microdeletion syndrome is a rare, genetic, syndromic intellectual disability characterized by psychomotor delay, hypotonia, feeding difficulties, failure to thrive, anomalies of the hands and feet (clinodactyly, camptodactyly, brachydactyly, feet malposition), and craniofacial dysmorphism. Associated prenatal growth retardation, and gastrointestinal, heart and eye anomalies have been reported." }, "child_count": 0, "reference_id": "MONDO:0018633" }, { "id": 18650, "label": "19p13.3 microduplication syndrome", "isLeaf": true, "isRoot": false, "parents": [ 16087, 18651 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0021875", "MEDGEN:1807189", "Orphanet:447980", "UMLS:C5679996" ], "synonyms": [ "dup(19)(p13.13)" ], "definition": "19p13.3 microduplication syndrome is a rare, genetic, syndromic intellectual disability characterized by intrauterine growth retardation, microcephaly, hypotonia, motor and neurodevelopmental delay, speech delay, intellectual disability, and mild dysmorphic features." }, "child_count": 0, "reference_id": "MONDO:0018658" }, { "id": 18672, "label": "neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-hip dysplasia syndrome", "isLeaf": false, "isRoot": false, "parents": [ 4427, 16087, 18362, 24488 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0017785", "Orphanet:453499" ], "synonyms": [ "neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-hip dysplasia syndrome" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ] }, "child_count": 8, "reference_id": "MONDO:0018681" }, { "id": 18686, "label": "1p35.2 microdeletion syndrome", "isLeaf": true, "isRoot": false, "parents": [ 16087, 17308 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0021898", "MEDGEN:1807819", "Orphanet:456298", "UMLS:C5679992" ], "synonyms": [ "Del(1)(p35.2)", "deletion 1p35.2", "monosomy 1p35.2" ] }, "child_count": 0, "reference_id": "MONDO:0018697" }, { "id": 18693, "label": "megalencephaly-severe kyphoscoliosis-overgrowth syndrome", "isLeaf": true, "isRoot": false, "parents": [ 15845, 16087, 19480 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0017805", "MEDGEN:1814470", "Orphanet:457359", "UMLS:C5681123" ] }, "child_count": 0, "reference_id": "MONDO:0018710" }, { "id": 18694, "label": "intellectual disability-muscle weakness-short stature-facial dysmorphism syndrome", "isLeaf": true, "isRoot": false, "parents": [ 16087 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0021906", "MEDGEN:1805563", "Orphanet:457365", "UMLS:C5681124" ] }, "child_count": 0, "reference_id": "MONDO:0018711" }, { "id": 18701, "label": "X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4427, 16087, 17206, 19709, 24270 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0017815", "MEDGEN:1811349", "Orphanet:459070", "UMLS:C5687848" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ] }, "child_count": 0, "reference_id": "MONDO:0018724" }, { "id": 18702, "label": "corpus callosum agenesis-macrocephaly-hypertelorism syndrome", "isLeaf": true, "isRoot": false, "parents": [ 16087 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0021918", "MEDGEN:1801729", "Orphanet:459074", "UMLS:C5679998" ], "synonyms": [ "7q36.3 microduplication syndrome", "dup(7)(q36.3)" ] }, "child_count": 0, "reference_id": "MONDO:0018725" }, { "id": 18725, "label": "DeSanto-Shinawi syndrome", "isLeaf": false, "isRoot": false, "parents": [ 16087 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0081126", "GARD:0017838", "MEDGEN:908218", "Orphanet:466943", "UMLS:C4225239" ], "synonyms": [ "WAC-related facial dysmorphism-developmental delay-behavioral abnormalities syndrome" ] }, "child_count": 2, "reference_id": "MONDO:0018760" }, { "id": 18764, "label": "global developmental delay-visual anomalies-progressive cerebellar atrophy-truncal hypotonia syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4427, 7019, 16087, 19709 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0017871", "MEDGEN:1798945", "Orphanet:480898", "UMLS:C5567522" ], "categories": [ { "ref": "MONDO:0002022", "name": "disorder of orbital region" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" }, { "ref": "MONDO:0024458", "name": "disorder of visual system" } ], "definition": "Global developmental delay-visual anomalies-progressive cerebellar atrophy-truncal hypotonia syndrome is a rare, genetic, neurological disorder characterized by mild to severe developmental delay and speech impairment, truncal hypotonia, abnormalities of vision (including cortical visual impairment and abnormal visual-evoked potentials), progressive brain atrophy mainly affecting the cerebellum, and shortened or atrophic corpus callosum. Other clinical findings may include increased muscle tone in the extremities, dystonic posturing, hyporeflexia, scoliosis, postnatal microcephaly and variable facial dysmorphism (e.g. deep-set eyes, gingival hyperplasia, short philtrum and retrognathia)." }, "child_count": 0, "reference_id": "MONDO:0018822" }, { "id": 18970, "label": "Ritscher-Schinzel syndrome", "isLeaf": false, "isRoot": false, "parents": [ 4427, 16087, 19709, 24270 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0060565", "GARD:0005666", "MEDGEN:163220", "MESH:C535313", "OMIMPS:220210", "Orphanet:7", "SCTID:718556007", "UMLS:C0796137" ], "synonyms": [ "3C syndrome", "CCC dysplasia", "Craniocerebellocardiac dysplasia", "Ritscher-Schinzel syndrome", "craniocerebellocardiac dysplasia", "Dandy-Walker like malformation with atrioventricular septal defect", "Dandy-Walker-like malformation with ASD", "Dandy-Walker-like malformation with atrioventricular septal defect", "Ritscher Schinzel syndrome", "Ritscher-Schinzel cranio-cerebello-cardiac syndrome", "cranio-cerebello-cardiac dysplasia" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "Cranio-cerebello-cardiac (3C) syndrome is a rare multiple congenital anomalies syndrome characterized by craniofacial (prominent occiput and forehead, hypertelorism, ocular coloboma, cleft palate), cerebellar (Dandy-Walker malformation, cerebellar vermis hypoplasia) and cardiac (tetralogy of Fallot, atrial and ventricular septal defects) anomalies." }, "child_count": 16, "reference_id": "MONDO:0019078" }, { "id": 19013, "label": "visceral neuropathy-brain anomalies-facial dysmorphism-developmental delay syndrome", "isLeaf": true, "isRoot": false, "parents": [ 16087 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0018923", "MEDGEN:930071", "Orphanet:73246", "UMLS:C4304402" ], "definition": "Visceral neuropathy-brain anomalies-facial dysmorphism-developmental delay syndrome is characterized by facial dysmorphology, neuropathic visceral dysmotility, neurogenic megacystis, intracerebral calcifications and developmental delay. It has been described in two siblings (brother and sister) born to consanguineous parents. The girl also had microcephaly and multicystic kidneys. The boy had a more extensive neuropathic visceral disorder, leading clinically to chronic intestinal pseudo-obstruction syndrome (CIPO)." }, "child_count": 0, "reference_id": "MONDO:0019133" }, { "id": 19030, "label": "brain malformation-congenital heart disease-postaxial polydactyly syndrome", "isLeaf": true, "isRoot": false, "parents": [ 16087 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0018926", "MEDGEN:929214", "Orphanet:75389", "SCTID:717943008", "UMLS:C4303545" ], "synonyms": [ "Goossens-Devriendt syndrome" ], "definition": "Goossens-Devriendt syndrome is characterized by intrauterine growth retardation, a congenital heart defect, postaxial polydactyly, a brain malformation, abnormal hair with temporal balding, and marked facial dysmorphism. It has been reported in two siblings from unrelated parents. One of the siblings died and the surviving patient showed postnatal growth retardation and severe developmental delay." }, "child_count": 0, "reference_id": "MONDO:0019153" }, { "id": 19058, "label": "Rubinstein-Taybi syndrome", "isLeaf": false, "isRoot": false, "parents": [ 2961, 4427, 16087, 18362, 18956, 24226 ], "type_id": 0, "properties": { "xrefs": [ "DECIPHER:7", "DOID:1933", "GARD:0007593", "ICD9:759.89", "MEDGEN:48517", "MESH:D012415", "MedDRA:10039281", "NANDO:1200461", "NANDO:2200955", "NCIT:C75466", "NORD:1682", "OMIMPS:180849", "Orphanet:783", "SCTID:45582004", "UMLS:C0035934", "icd11.foundation:692585833" ], "synonyms": [ "Broad thumb-hallux syndrome", "Broad thumbs-halluces syndrome", "Rubinstein-Taybi Syndrome", "RSTS" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "A rare malformation syndrome characterized by congenital anomalies (microcephaly, specific facial characteristics, broad thumbs and halluces and postnatal growth retardation), short stature, intellectual disability and behavioral characteristics." }, "child_count": 18, "reference_id": "MONDO:0019188" }, { "id": 19244, "label": "X-linked intellectual disability-hypogammaglobulinemia-progressive neurological deterioration syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4427, 16087, 19742 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0019053", "MEDGEN:930588", "Orphanet:85317", "UMLS:C4304919" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "X-linked intellectual disability-hypogammaglobulinemia-progressive neurological deterioration syndrome is characterized by moderate intellectual deficit, bilateral single palmar creases, seizures, variable hypogammaglobulinemia and characteristic features (synophrys, prognathism, and hirsutism). It has been reported in three males from two generations of one family. All underwent progressive neurological deterioration. This syndrome is transmitted as an X-linked trait, and the causative gene is located between Xq21.33 and Xq23." }, "child_count": 0, "reference_id": "MONDO:0019416" }, { "id": 19246, "label": "X-linked intellectual disability-epilepsy-progressive joint contractures-dysmorphism syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4427, 16087, 19742 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0019054", "MEDGEN:930586", "Orphanet:85319", "UMLS:C4304917" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "X-linked intellectual disability-epilepsy-progressive joint contractures-dysmorphism syndrome is characterized by intellectual deficit, epilepsy, facial dysmorphism and progressive joint contractures. It has been described in two boys. Hypotonia and feeding problems at birth were also reported. The mode of transmission is X-linked." }, "child_count": 0, "reference_id": "MONDO:0019418" }, { "id": 19248, "label": "X-linked intellectual disability, Pai type", "isLeaf": true, "isRoot": false, "parents": [ 4427, 16087, 19742 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0019056", "MEDGEN:930695", "Orphanet:85322", "SCTID:719011002", "UMLS:C4305026" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "X-linked intellectual disability, Pai type is characterized by the association of dysmorphism with intellectual deficit. It has been described in four generations of one family. Premature death was reported in the affected males. Transmission is X-linked recessive and the causative gene has been localized to the q28 region of the X chromosome." }, "child_count": 0, "reference_id": "MONDO:0019420" }, { "id": 19250, "label": "X-linked intellectual disability, Stevenson type", "isLeaf": true, "isRoot": false, "parents": [ 4427, 16087, 19742 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0019058", "MEDGEN:930746", "Orphanet:85325", "SCTID:718909001", "UMLS:C4305077" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "An X-linked syndromic intellectual disability characterized by intellectual deficit, hypotonia, absent deep tendon reflexes, tapered fingers and excessive fingerprint arches, genu valgum, a characteristic face and small teeth. It has been described in four males from two generations of one family. The causative gene appears to be located in the q13 region of the X chromosome." }, "child_count": 0, "reference_id": "MONDO:0019422" }, { "id": 19251, "label": "X-linked intellectual disability, Stoll type", "isLeaf": true, "isRoot": false, "parents": [ 4427, 16087, 19742 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0019059", "MEDGEN:930744", "Orphanet:85326", "SCTID:718911005", "UMLS:C4305075" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "X-linked intellectual disability, Stoll type is characterized by intellectual deficit, short stature and characteristic facies (hypertelorism, prominent forehead, frontal bossing, a broad nasal tip and anteverted nares). It has been described in four males from three generations of the same family. Two females from this family also displayed intellectual deficit and the characteristic facies. Transmission is X-linked." }, "child_count": 0, "reference_id": "MONDO:0019423" }, { "id": 19396, "label": "osteopenia-myopia-hearing loss-intellectual disability-facial dysmorphism syndrome", "isLeaf": true, "isRoot": false, "parents": [ 16087 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0025142", "MEDGEN:928492", "Orphanet:91133", "SCTID:722111004", "UMLS:C4302823" ], "definition": "Osteopenia-myopia-hearing loss-intellectual disability-facial dysmorphism syndrome is characterized by severe hypertelorism, brachycephaly, abnormal ears, sloping shoulders, enamel hypoplasia, osteopaenia with frequent fractures, severe myopia, mild to moderate sensorineural hearing loss and mild intellectual deficit. It has been described in two brothers born to first-cousin parents. No chromosomal anomalies were detected. Transmission appears to be autosomal recessive or X-linked." }, "child_count": 0, "reference_id": "MONDO:0019603" }, { "id": 19529, "label": "severe intellectual disability-epilepsy-anal anomalies-distal phalangeal hypoplasia", "isLeaf": true, "isRoot": false, "parents": [ 16087 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0019247", "MEDGEN:1372948", "Orphanet:94066", "UMLS:C4510007" ], "definition": "Severe intellectual disability-epilepsy-anal anomalies-distal phalangeal hypoplasia is characterized by severe intellectual deficit, epilepsy, hypoplasia of the terminal phalanges, and an anteriorly displaced anus. It has been described in two sisters born to consanguineous parents. The syndrome is transmitted as an autosomal recessive trait and appears to be caused by anomalies in to chromosome regions, one localized to chromosome 1 and the other to chromosome 14." }, "child_count": 0, "reference_id": "MONDO:0019786" }, { "id": 22117, "label": "intellectual disability, autosomal dominant 47", "isLeaf": true, "isRoot": false, "parents": [ 4427, 16087, 16555 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0080238", "GARD:0017935", "MEDGEN:1622196", "OMIM:617635", "Orphanet:502434", "UMLS:C4539951" ], "synonyms": [ "STAG1-related intellectual disability-facial dysmorphism-gastroesophageal reflux syndrome", "intellectual disability, autosomal dominant 47", "MRD47", "autosomal dominant intellectual disability 47", "autosomal dominant mental retardation 47", "mental retardation, autosomal dominant 47" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ] }, "child_count": 0, "reference_id": "MONDO:0030912" }, { "id": 22118, "label": "intellectual disability, autosomal dominant 48", "isLeaf": true, "isRoot": false, "parents": [ 4427, 16087, 24323 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0080235", "GARD:0017924", "MEDGEN:1619532", "OMIM:617751", "Orphanet:500159", "UMLS:C4540321" ], "synonyms": [ "intellectual disability, autosomal dominant 48", "MRD48", "autosomal dominant intellectual disability 48", "autosomal dominant mental retardation 48", "mental retardation, autosomal dominant 48", "microcephaly-corpus callosum and cerebellar vermis hypoplasia-facial dysmorphism-intellectual disability syndrom" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ] }, "child_count": 0, "reference_id": "MONDO:0030913" }, { "id": 22738, "label": "skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome", "isLeaf": true, "isRoot": false, "parents": [ 16087, 16471, 19472 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0022070", "MEDGEN:1799322", "Orphanet:508533", "UMLS:C5567899" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0005046", "name": "immune system disorder" } ] }, "child_count": 0, "reference_id": "MONDO:0033682" }, { "id": 22739, "label": "congenital progressive bone marrow failure-B-cell immunodeficiency-skeletal dysplasia syndrome", "isLeaf": true, "isRoot": false, "parents": [ 10564, 16087, 16471, 18362, 18956, 18958, 19279, 21247 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0022071", "MEDGEN:1799320", "Orphanet:508542", "UMLS:C5567897" ], "synonyms": [ "MYSM1 deficiency" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0003900", "name": "connective tissue disorder" }, { "ref": "MONDO:0005046", "name": "immune system disorder" }, { "ref": "MONDO:0005570", "name": "hematologic disorder" } ] }, "child_count": 0, "reference_id": "MONDO:0033683" }, { "id": 22769, "label": "developmental and epileptic encephalopathy, 73", "isLeaf": true, "isRoot": false, "parents": [ 4427, 16087, 16437, 23814 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0112209", "GARD:0017988", "MEDGEN:1681654", "OMIM:618379", "Orphanet:544503", "UMLS:C5193065" ], "synonyms": [ "DEE73", "developmental and epileptic encephalopathy 73", "epileptic encephalopathy, early infantile, 73", "rnf13-related severe early-onset epileptic encephalopathy" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ] }, "child_count": 0, "reference_id": "MONDO:0034106" }, { "id": 22774, "label": "pancreatic agenesis-holoprosencephaly syndrome", "isLeaf": true, "isRoot": false, "parents": [ 16087 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0017992", "MEDGEN:1808942", "Orphanet:556955", "UMLS:C5681334" ] }, "child_count": 0, "reference_id": "MONDO:0034142" }, { "id": 22776, "label": "oculocerebrodental syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370, 7000, 16087 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0017993", "MEDGEN:1674537", "OMIM:618440", "Orphanet:557003", "UMLS:C5193101" ], "synonyms": [ "Cataracts, Early-Onset, With Skeletal and Dental Anomalies", "OCSKD", "oculoskeletodental syndrome" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ] }, "child_count": 0, "reference_id": "MONDO:0034145" }, { "id": 22803, "label": "PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4427, 16087, 24270 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0022367", "MEDGEN:1641154", "OMIM:617991", "Orphanet:589905", "UMLS:C4693860" ], "synonyms": [ "Chung-Jansen syndrome", "developmental delay, intellectual disability, obesity, and dysmorphic features", "DIDOD" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ] }, "child_count": 0, "reference_id": "MONDO:0035133" }, { "id": 22931, "label": "KAT6B-related multiple congenital anomalies syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370, 16087 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0022399", "MEDGEN:1843234", "Orphanet:597749", "UMLS:C5680266" ], "synonyms": [ "KAT6B-related disorder" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ] }, "child_count": 0, "reference_id": "MONDO:0036042" }, { "id": 23321, "label": "intellectual developmental disorder with gastrointestinal difficulties and high pain threshold", "isLeaf": true, "isRoot": false, "parents": [ 4427, 16087, 24323 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0025892", "MEDGEN:1385744", "OMIM:617450", "Orphanet:653767", "UMLS:C4479517" ], "synonyms": [ "Jansen de Vries syndrome", "intellectual developmental disorder with gastrointestinal difficulties and high pain threshold", "IDDGIP" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "IDDGIP is an autosomal dominant syndromic neurodevelopmental disorder characterized by delayed psychomotor development, intellectual disability with speech delay, and behavioral abnormalities. Most patients have variable additional features, including feeding and gastrointestinal difficulties, high pain threshold and/or hypersensitivity to sound, and dysmorphic features, including mild facial abnormalities, strabismus, and small hands and feet (summary by {1:Jansen et al., 2017})." }, "child_count": 0, "reference_id": "MONDO:0044318" }, { "id": 23322, "label": "intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies", "isLeaf": true, "isRoot": false, "parents": [ 4427, 16087, 16437, 24320 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0017942", "MEDGEN:1375601", "OMIM:617452", "Orphanet:505237", "UMLS:C4479520" ], "synonyms": [ "intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies", "IDDFSDA" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "IDDFSDA is an autosomal recessive severe multisystem disorder characterized by poor overall growth, developmental delay, early-onset seizures, intellectual disability, and dysmorphic features. There is phenotypic variability. The most severely affected patients have a neurodevelopmental disorder with microcephaly, absent speech, and inability to walk, and they require feeding tubes. Some patients have congenital heart defects or nonspecific abnormalities on brain imaging. Less severely affected individuals have mild to moderate intellectual disability with normal speech and motor development (summary by {1:Santiago-Sim et al., 2017})." }, "child_count": 0, "reference_id": "MONDO:0044319" }, { "id": 23356, "label": "16p12.1p12.3 triplication syndrome", "isLeaf": true, "isRoot": false, "parents": [ 16087, 17364 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0021993", "MEDGEN:1814451", "Orphanet:485405", "UMLS:C5680097" ], "synonyms": [ "tetrasomy 16p12.1-p12.3", "tetrasomy 16p12.1p12.3", "trip(16)(p12.1p12.3)" ], "definition": "16p12.1p12.3 triplication syndrome is a rare chromosomal anomaly syndrome resulting from the partial duplication of the short arm of chromosome 16 characterized by global developmental delay, pre- or post-natal growth delay and distinctive craniofacial features, including short palpebral fissures, epicanthal folds, bulbous nose, thin upper vermillion border, apparently low-set ears and large ear lobes. Variable clinical features that have been reported include congenital heart disease, genitourinary abnormalities, visual anomalies or, less commonly, infantile hepatic disease. Patients are also reported to have tapered fingers." }, "child_count": 0, "reference_id": "MONDO:0044621" }, { "id": 23372, "label": "9q33.3q34.11 microdeletion syndrome", "isLeaf": true, "isRoot": false, "parents": [ 2961, 4427, 7019, 16087, 17327 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0022009", "MEDGEN:1811810", "Orphanet:495818", "UMLS:C5680085" ], "synonyms": [ "9q33.3-q34.11 microdeletion syndrome", "Del(9)(q33.3q34.11)", "deletion 9q33.3q34.11", "monosomy 9q33.3-q34.11", "monosomy 9q33.3q34.11" ], "categories": [ { "ref": "MONDO:0002022", "name": "disorder of orbital region" }, { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" }, { "ref": "MONDO:0024458", "name": "disorder of visual system" } ] }, "child_count": 0, "reference_id": "MONDO:0044641" }, { "id": 23374, "label": "congenital labioscrotal agenesis-cerebellar malformation-corneal dystrophy-facial dysmorphism syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370, 4427, 16087, 19709 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0022010", "MEDGEN:1798878", "Orphanet:495875", "UMLS:C5567455" ], "synonyms": [ "congenital agenesis of labia majora or scrotum-cerebellar malformation-corneal dystrophy-facial dysmorphism syndrome" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ] }, "child_count": 0, "reference_id": "MONDO:0044643" }, { "id": 23377, "label": "early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4427, 16087, 21292, 23939 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0070423", "GARD:0017911", "MEDGEN:1798877", "OMIM:617193", "Orphanet:496641", "UMLS:C5567454" ], "synonyms": [ "PEBAT", "encephalopathy, progressive, early-onset, with brain atrophy and thin corpus callosum", "encephalopathy, progressive, early-onset, with brain atrophy and thin corpus callosum; PEBAT" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ] }, "child_count": 0, "reference_id": "MONDO:0044646" }, { "id": 23393, "label": "early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome", "isLeaf": true, "isRoot": false, "parents": [ 16087, 23939 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0017923", "MEDGEN:1798652", "OMIM:617669", "Orphanet:500144", "UMLS:C5567229" ], "synonyms": [ "PEBAS", "encephalopathy, progressive, early-onset, with brain atrophy and spasticity" ] }, "child_count": 0, "reference_id": "MONDO:0044696" }, { "id": 23394, "label": "SIN3A-related intellectual disability syndrome", "isLeaf": false, "isRoot": false, "parents": [ 4427, 16087, 24323 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0022043", "Orphanet:500163" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ] }, "child_count": 3, "reference_id": "MONDO:0044699" }, { "id": 23396, "label": "childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder", "isLeaf": true, "isRoot": false, "parents": [ 4427, 7073, 16087, 19709, 24270 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0070474", "GARD:0013658", "MEDGEN:1626007", "OMIM:617672", "Orphanet:500180", "UMLS:C4540086" ], "synonyms": [ "UBTF-related disorder", "CONDBA", "neurodegeneration, childhood-onset, with brain atrophy" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ] }, "child_count": 0, "reference_id": "MONDO:0044701" }, { "id": 23414, "label": "Gabriele de Vries syndrome", "isLeaf": true, "isRoot": false, "parents": [ 5714, 16087 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0017947", "MEDGEN:1375401", "OMIM:617557", "Orphanet:506358", "UMLS:C4479652" ], "synonyms": [ "YY1 haploinsufficiency syndrome", "GADEVS", "Gabriele-De Vries syndrome", "Gabriele-de Vries syndrome" ] }, "child_count": 0, "reference_id": "MONDO:0044738" }, { "id": 23573, "label": "Skraban-Deardorff syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370, 5714, 16087 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0017953", "MEDGEN:1627555", "NORD:153230", "OMIM:617616", "Orphanet:513456", "UMLS:C4539927" ], "synonyms": [ "Skraban-Deardorff syndrome", "WDR26-Related Disorder", "SKDEAS", "intellectual disability with seizures, abnormal Gait, and distinctive Facial features" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ] }, "child_count": 0, "reference_id": "MONDO:0054636" }, { "id": 23685, "label": "neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies", "isLeaf": true, "isRoot": false, "parents": [ 4427, 16087, 24226 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0017960", "MEDGEN:1380260", "OMIM:617527", "Orphanet:521426", "UMLS:C4479631" ], "synonyms": [ "neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies", "NDMSBA" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ] }, "child_count": 0, "reference_id": "MONDO:0060502" }, { "id": 23699, "label": "Pilarowski-Bjornsson syndrome", "isLeaf": true, "isRoot": false, "parents": [ 2903, 16087 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0017970", "MEDGEN:1619150", "OMIM:617682", "Orphanet:529965", "UMLS:C4540131" ], "synonyms": [ "Pilarowski-Bjornsson syndrome", "PILBOS", "developmental delay and speech apraxia with or without seizures" ] }, "child_count": 0, "reference_id": "MONDO:0060568" }, { "id": 23713, "label": "glycosylphosphatidylinositol biosynthesis defect 15", "isLeaf": true, "isRoot": false, "parents": [ 4594, 7611, 16087, 16198, 21353 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0017969", "MEDGEN:1615160", "OMIM:617810", "Orphanet:529665", "UMLS:C4540520" ], "synonyms": [ "glycosylphosphatidylinositol biosynthesis defect 15", "GPIBD15", "developmental delay, epilepsy, cerebellar atrophy, and osteopenia" ], "definition": "A rare, genetic, syndromic intellectual disability characterized by global developmental delay, early-onset seizures, cerebellar atrophy, osteopenia, nystagmus and dysmorphic facial features, including bitemporal narrowing, prominent forehead, anteverted nares. Dysarthria, dysmetria, ataxic gait, spasticity and dysmorphic features have also been associated." }, "child_count": 0, "reference_id": "MONDO:0060627" }, { "id": 23985, "label": "multiple congenital anomalies-hypotonia-seizures syndrome", "isLeaf": false, "isRoot": false, "parents": [ 5714, 16087 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0080503", "GARD:0026096", "MEDGEN:1683744", "OMIMPS:614080", "UMLS:C5191419" ] }, "child_count": 8, "reference_id": "MONDO:0100247" }, { "id": 25266, "label": "mesomelic dysplasia-digital anomalies-intellectual disability syndrome", "isLeaf": true, "isRoot": false, "parents": [ 16087, 18360 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0026641", "MEDGEN:1843408", "Orphanet:632603", "UMLS:C5816803" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" } ] }, "child_count": 0, "reference_id": "MONDO:0858998" }, { "id": 25267, "label": "KDM3B-related intellectual disability-facial dysmorphism-short stature syndrome", "isLeaf": true, "isRoot": false, "parents": [ 16087 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0026642", "Orphanet:633004" ] }, "child_count": 0, "reference_id": "MONDO:0858999" }, { "id": 25268, "label": "SLC12A2-related developmental delay-intellectual disability-sensorineural deafness syndrome", "isLeaf": false, "isRoot": false, "parents": [ 16087 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0026643", "MEDGEN:1843423", "Orphanet:633014", "UMLS:C5816806" ] }, "child_count": 1, "reference_id": "MONDO:0859000" }, { "id": 25269, "label": "intellectual disability-early-onset cataract-microcephaly syndrome", "isLeaf": true, "isRoot": false, "parents": [ 16087 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0026645", "Orphanet:633035" ] }, "child_count": 0, "reference_id": "MONDO:0859002" }, { "id": 25814, "label": "cleft palate-congenital heart defect-intellectual disability syndrome", "isLeaf": false, "isRoot": false, "parents": [ 4370, 16087 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0026923", "MEDGEN:1859712", "Orphanet:652519", "UMLS:C5924219" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ] }, "child_count": 2, "reference_id": "MONDO:0958091" }, { "id": 26021, "label": "PRC-2 complex-related overgrowth spectrum", "isLeaf": true, "isRoot": false, "parents": [ 16087, 19480 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0027159", "MEDGEN:1863739", "Orphanet:659387", "UMLS:C5925135" ] }, "child_count": 0, "reference_id": "MONDO:0971047" }, { "id": 26028, "label": "orofacial clefting-cardiac anomalies-facial dysmorphism syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370, 16087 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0027166", "MEDGEN:1864391", "Orphanet:660021", "UMLS:C5925125" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ] }, "child_count": 0, "reference_id": "MONDO:0971064" }, { "id": 26065, "label": "severe congenital myelofibrosis-pancytopenia-intellectual disability-neurologic and ophthalmic abnormalities syndrome", "isLeaf": true, "isRoot": false, "parents": [ 16087 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0027196", "MEDGEN:1863736", "Orphanet:675775", "UMLS:C5925096" ] }, "child_count": 0, "reference_id": "MONDO:0971137" }, { "id": 26066, "label": "progressive hypotonia-intellectual disability-facial dysmorphism syndrome due to FYVE-defective RBSN", "isLeaf": true, "isRoot": false, "parents": [ 16087, 16198, 17972 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0027197", "MEDGEN:1863933", "Orphanet:675782", "UMLS:C5925097" ] }, "child_count": 0, "reference_id": "MONDO:0971138" }, { "id": 26150, "label": "intellectual disability-epilepsy-dental anomalies-facial dysmorphism syndrome", "isLeaf": true, "isRoot": false, "parents": [ 16087 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0027405", "Orphanet:684232" ] }, "child_count": 0, "reference_id": "MONDO:0975882" }, { "id": 26152, "label": "2q13 microdeletion syndrome", "isLeaf": true, "isRoot": false, "parents": [ 16087, 17320 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0027407", "MEDGEN:1876609", "Orphanet:684742", "UMLS:C6012360" ] }, "child_count": 0, "reference_id": "MONDO:0975887" }, { "id": 26161, "label": "10p13-p14 deletion syndrome", "isLeaf": true, "isRoot": false, "parents": [ 12181, 16087 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0027416", "NCIT:C130982", "OMIM:601362", "Orphanet:687695" ] }, "child_count": 0, "reference_id": "MONDO:0975905" }, { "id": 26272, "label": "3q26q28 deletion syndrome", "isLeaf": true, "isRoot": false, "parents": [ 16087, 17321 ], "type_id": 0, "properties": { "xrefs": [ "MEDGEN:1882544", "Orphanet:695611", "UMLS:C6010434" ] }, "child_count": 0, "reference_id": "MONDO:0979291" }, { "id": 26363, "label": "Pitt-Hopkins or Pitt-Hopkins-like syndrome", "isLeaf": false, "isRoot": false, "parents": [ 5714, 16087 ], "type_id": 0, "properties": { "xrefs": [ "OMIMPS:610954" ] }, "child_count": 4, "reference_id": "MONDO:0980732" }, { "id": 29295, "label": "PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome", "isLeaf": false, "isRoot": false, "parents": [ 2903, 16087 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0027440", "MEDGEN:863794", "Orphanet:438213", "UMLS:C4015357" ], "synonyms": [ "PURA-related neurodevelopmental disorders", "PURA syndrome" ], "definition": "A rare neurologic disease characterized by neonatal hypotonia, global developmental delay, feeding difficulties, and often seizures or seizure-like episodes. Other frequently observed signs and symptoms include variable dysmorphic features, myopathic facies, respiratory problems, and visual abnormalities, such as strabismus or esotropia. Brain imaging may show delayed myelination and other white matter abnormalities." }, "child_count": 4, "reference_id": "MONDO:1060108" }, { "id": 29392, "label": "Martsolf syndrome 1", "isLeaf": true, "isRoot": false, "parents": [ 16087, 16526, 21280 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0111586", "GARD:0003406", "MEDGEN:1778114", "MESH:C536028", "OMIM:212720", "Orphanet:1387", "SCTID:722380003", "UMLS:C5542298" ], "synonyms": [ "MARTSOLF syndrome", "Martsolf syndrome", "cataract-intellectual disability-hypogonadism syndrome", "cataract-mental retardation-hypogonadism", "cataract-intellectual disability-hypogonadism" ], "categories": [ { "ref": "MONDO:0002022", "name": "disorder of orbital region" }, { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0005039", "name": "reproductive system disorder" }, { "ref": "MONDO:0005151", "name": "endocrine system disorder" }, { "ref": "MONDO:0024458", "name": "disorder of visual system" } ], "definition": "This syndrome is characterized by the association of intellectual deficit, congenital cataract, and hypogonadotropic hypogonadism." }, "child_count": 0, "reference_id": "MONDO:8000008" } ], "roots": [ { "id": 18951, "label": "multiple congenital anomalies/dysmorphic syndrome" } ] }