{ "id": 19709, "label": "central nervous system malformation", "model": { "label": "Mondo Disease Ontology (MONDO)", "source": 0 }, "type_id": 0, "reference_id": "MONDO:0020022", "properties": { "xrefs": [ "GARD:0019394", "ICD10CM:Q00-Q07", "MEDGEN:374250", "MESH:D009421", "NANDO:2200118", "Orphanet:98044", "UMLS:C1839543" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ] }, "isLeaf": false, "isRoot": false, "child_count": 54, "parents": [ { "id": 6799, "label": "nervous system disorder", "isLeaf": false, "isRoot": false, "parents": [ 29379 ], "type_id": 0, "properties": { "xrefs": [ "DOID:863", "EFO:0000618", "ICD10CM:G00-G99", "ICD9:349.89", "ICD9:349.9", "MEDGEN:14336", "MESH:D009422", "NCIT:C26835", "SCTID:118940003", "UMLS:C0027765", "Wikipedia:Nervous_system_disease" ], "synonyms": [ "disease of nervous system", "disease or disorder of nervous system", "disorder of nervous system", "nervous system disease", "nervous system disease or disorder", "nervous system disorder", "neurologic disease", "neurologic disorder", "neurological disease", "neurological disorder" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "A non-neoplastic or neoplastic disorder that affects the brain, spinal cord, or peripheral nerves." }, "child_count": 72, "reference_id": "MONDO:0005071" }, { "id": 19507, "label": "developmental defect during embryogenesis", "isLeaf": false, "isRoot": false, "parents": [ 20383 ], "type_id": 0, "properties": { "xrefs": [ "ICD9:759.7", "MEDGEN:1825997", "NCIT:C99267", "Orphanet:93890", "SCTID:400038003", "UMLS:C5680284" ], "synonyms": [ "congenital malformation syndrome", "developmental defect during embryogenesis", "disorder of embryonic morphogenesis", "embryonic morphogenesis disease", "malformation syndrome", "rare developmental defect during embryogenesis" ], "definition": "A disease that has its basis in the disruption of embryonic morphogenesis." }, "child_count": 52, "reference_id": "MONDO:0019755" } ], "children": [ { "id": 8792, "label": "craniosynostosis-Dandy-Walker malformation-hydrocephalus syndrome", "isLeaf": true, "isRoot": false, "parents": [ 3395, 16468, 19709, 24270 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0000998", "MEDGEN:325006", "MESH:C563973", "OMIM:123155", "Orphanet:1538", "SCTID:720813007", "UMLS:C1838347" ], "synonyms": [ "Braddock-Jones-Superneau syndrome", "craniosynostosis-Dandy-Walker malformation-hydrocephalus syndrome", "Braddock Jones Superneau syndrome", "Dandy-Walker malformation with sagittal craniosynostosis and hydrocephalus", "HDCPH1", "hydrocephalus, autosomal dominant", "sagittal craniosynostosis, Dandy-Walker malformation and hydrocephalus" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "Craniosynostosis, Dandy-Walker malformation and hydrocephalus is a malformation disorder characterized by sagittal craniosynostosis, Dandy-Walker malformation, hydrocephalus, craniofacial dysmorphism (including dolichocephaly, hypertelorism, micrognathia, positional ear deformity) and variable developmental delay. The inheritance pattern appears to be autosomal dominant." }, "child_count": 0, "reference_id": "MONDO:0007401" }, { "id": 9175, "label": "Aase-Smith syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4427, 16089, 19709 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0005642", "MEDGEN:66316", "MESH:C535332", "MedDRA:10063429", "OMIM:147800", "Orphanet:916", "SCTID:718576001", "UMLS:C0220686" ], "synonyms": [ "Aase-Smith I syndrome", "Aase-Smith syndrome", "Aase-Smith syndrome type 1", "hydrocephalus-cleft palate-joint contractures syndrome", "Aase-Smith syndrome 1", "Aase-Smith syndrome I", "Joint contractures with Other abnormalities" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "Aase-Smith syndrome type I is a very rare genetic disorder characterized by the following congenital malformations: hydrocephalus (due to Dandy-Walker anomaly), cleft palate, and severe joint contractures." }, "child_count": 0, "reference_id": "MONDO:0007839" }, { "id": 10081, "label": "arachnoid cyst", "isLeaf": false, "isRoot": false, "parents": [ 19709 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0000017", "MEDGEN:86860", "MESH:D016080", "MedDRA:10049005", "NCIT:C3455", "Orphanet:2356", "SCTID:33595009", "UMLS:C0078981" ], "synonyms": [ "arachnoid cysts" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "Intracranial or spinal cavities containing a cerebrospinal-like fluid, the wall of which is composed of arachnoidal cells. They are most often developmental or related to trauma. Intracranial arachnoid cysts usually occur adjacent to arachnoidal cistern and may present with hydrocephalus; headache; seizures; and focal neurologic signs. (From Joynt, Clinical Neurology, 1994, Ch44, pp105-115)" }, "child_count": 2, "reference_id": "MONDO:0008813" }, { "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": 10324, "label": "Dandy-Walker malformation-postaxial polydactyly syndrome", "isLeaf": true, "isRoot": false, "parents": [ 19709 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0001669", "MEDGEN:341751", "MESH:C535771", "OMIM:220220", "Orphanet:1566", "SCTID:733094005", "UMLS:C1857351" ], "synonyms": [ "DWM with postaxial polydactyly", "Pierquin syndrome", "Dandy-Walker malformation with postaxial polydactyly" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "Dandy-Walker malformation with postaxial polydactyly syndrome is a syndromic disorder with, as a major feature, the association between Dandy-Walker malformation and postaxial polydactyly. The Dandy-Walker malformation has a variable expression and is characterized by a posterior fossa cyst communicating with the fourth ventricle, the partial or complete absence of the cerebellar vermis, and facultative hydrocephalus. Postaxial polydactyly includes tetramelic postaxial polydactyly of hands and feet with possible enlargement of the fifth metacarpal and metatarsal bones, as well as bifid fifth metacarpals." }, "child_count": 0, "reference_id": "MONDO:0009075" }, { "id": 10637, "label": "cervical hypertrichosis-peripheral neuropathy syndrome", "isLeaf": true, "isRoot": false, "parents": [ 19135, 19709 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0001226", "MEDGEN:341004", "MESH:C565492", "OMIM:239840", "Orphanet:2218", "UMLS:C1855902" ], "synonyms": [ "cervical hypertrichosis peripheral neuropathy", "hypertrichosis, congenital anterior cervical, with peripheral sensory and motor neuropathy" ], "categories": [ { "ref": "MONDO:0002051", "name": "integumentary system disorder" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "Cervical hypertrichosis peripheral neuropathy is a rare syndrome characterized by the association of congenital hypertrichosis in the anterior cervical region with peripheral sensory and motor neuropathy. It has been described in three members of the same family and in one unrelated boy. Associated features in the familial cases include retinal anomalies, spina bifida, kyphoscoliosis and hallux valgus, while that in the non-familial case includes developmental delay. An autosomal recessive mode of inheritance is suggested. There have been no further descriptions in the literature since 1993." }, "child_count": 0, "reference_id": "MONDO:0009405" }, { "id": 10706, "label": "Joubert syndrome with oculorenal defect", "isLeaf": false, "isRoot": false, "parents": [ 4370, 16225, 19709, 21415 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0009455", "MEDGEN:340930", "MESH:C537430", "NANDO:1200662", "OMIM:243910", "Orphanet:2318", "SCTID:721862000", "UMLS:C1855675", "icd11.foundation:397835469" ], "synonyms": [ "Arima syndrome", "CORS", "Cerebellooculorenal syndrome", "Dekaban-Arima syndrome", "JS type B", "JS-OR", "Joubert syndrome with Senior-Loken syndrome", "Joubert syndrome with oculorenal defect", "Dekaban Arima syndrome", "Joubert syndrome 5", "Joubert syndrome with bilateral chorioretinal coloboma", "Joubert syndrome with oculorenal anomalies", "cerebello-oculo-renal syndrome", "cerebro-oculo-hepato-renal syndrome", "cerebrooculohepatorenal syndrome", "chorioretinal coloboma with cerebellar vermis aplasia", "coloboma, chorioretinal, with cerebellar vermis aplasia" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" }, { "ref": "MONDO:0024458", "name": "disorder of visual system" } ], "definition": "Joubert syndrome with oculorenal defect is a rare subtype of Joubert syndrome and related disorders (JSRD) characterized by the neurological features of JS associated with both renal and ocular disease." }, "child_count": 20, "reference_id": "MONDO:0009480" }, { "id": 11167, "label": "NPHP3-related Meckel-like syndrome", "isLeaf": true, "isRoot": false, "parents": [ 18845, 19709, 24270 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0070121", "GARD:0004665", "MEDGEN:382217", "MESH:C537756", "OMIM:267010", "Orphanet:3032", "PMID:18371931", "UMLS:C2673885" ], "synonyms": [ "Goldston syndrome", "MKS7", "Meckel syndrome type 7", "Meckel-like syndrome type 1", "NPHP3-related Meckel-like syndrome", "renal-hepatic-pancreatic dysplasia-Dandy-Walker cysts syndrome", "Dandy-Walker cyst with renal-hepatic-pancreatic dysplasia", "Meckel syndrome 7", "Meckel syndrome, type 7", "renal-hepatic-pancreatic dysplasia with Dandy-Walker cyst" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ] }, "child_count": 0, "reference_id": "MONDO:0009966" }, { "id": 11358, "label": "orofaciodigital syndrome type 6", "isLeaf": true, "isRoot": false, "parents": [ 14838, 16229, 19709, 24270 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0060376", "GARD:0004412", "MEDGEN:411200", "MESH:C536531", "NCIT:C124841", "OMIM:277170", "Orphanet:2754", "SCTID:721873007", "UMLS:C2745997" ], "synonyms": [ "Joubert syndrome with oral-facial-digital syndrome", "Joubert syndrome with orofaciodigital defect", "OFD6", "Varadi syndrome", "Varadi-Papp syndrome", "oral-facial-digital syndrome type 6", "orofaciodigital syndrome VI", "orofaciodigital syndrome type 6", "polydactyly-cleft lip/palate-psychomotor retardation syndrome", "Ofds 6", "Váradi syndrome", "Váradi-Papp syndrome", "oral-Facial-digital syndrome, type 6", "orofaciodigital syndrome 6", "polydactyly - cleft lip/palate - psychomotor retardation", "polydactyly cleft lip palate psychomotor retardation", "polydactyly, cleft Lip/palate or lingual lump, and psychomotor retardation" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "Joubert syndrome with orofaciodigital defect (or oral-facial-digital syndrome type 6, OFD6) is a very rare subtype of Joubert syndrome and related disorders (JSRD) characterized by the neurological features of JS associated with orofacial anomalies and often polydactyly." }, "child_count": 0, "reference_id": "MONDO:0010176" }, { "id": 11506, "label": "X-linked intellectual disability-cerebellar hypoplasia syndrome", "isLeaf": true, "isRoot": false, "parents": [ 19709, 19742 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0080311", "GARD:0009947", "MEDGEN:336920", "MESH:C537456", "OMIM:300486", "Orphanet:137831", "SCTID:719136005", "UMLS:C1845366" ], "synonyms": [ "OPHN1 syndrome", "Oligophrenin-1 syndrome", "X-linked intellectual disability-cerebellar hypoplasia syndrome", "intellectual developmental disorder, X-linked syndromic, Billuart type, X-linked recessive", "MRX60 (formerly)", "OPHN1 XLMR", "OPHN1 XLMR, X-linked intellectual disability", "OPHN1 deficiency", "OPHN1- related XLID", "X-linked intellectual Deficit with cerebellar Hypoplasia", "intellectual disability X-linked 60 (formerly)", "intellectual disability X-linked with cerebellar hypoplasia and distinctive facial appearance", "intellectual disability, X-linked 60", "intellectual disability, X-linked 60, formerly", "intellectual disability, X-linked, with cerebellar hypoplasia and distinctive facial appearance", "mental retardation X-linked 60 (formerly)", "mental retardation X-linked with cerebellar hypoplasia and distinctive facial appearance", "mental retardation, X-linked 60", "mental retardation, X-linked 60, formerly", "mental retardation, X-linked, with cerebellar hypoplasia and distinctive facial appearance" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "X-linked intellectual deficit-cerebellar hypoplasia, also known as OPHN1 syndrome, is a rare syndromic form of cerebellar dysgenesis characterized by moderate to severe intellectual deficit and cerebellar abnormalities." }, "child_count": 0, "reference_id": "MONDO:0010337" }, { "id": 11578, "label": "syndromic X-linked intellectual disability Najm type", "isLeaf": true, "isRoot": false, "parents": [ 19709, 29351 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0060807", "GARD:0012669", "MEDGEN:437070", "MESH:C567466", "OMIM:300749", "Orphanet:163937", "UMLS:C2677903" ], "synonyms": [ "MICPCH", "MICPCH syndrome", "X-linked intellectual disability-microcephaly-pontocerebellar hypoplasia syndrome", "intellectual disability and microcephaly with pontine and cerebellar hypoplasia", "mental retardation and microcephaly with PONTINE and cerebellar hypoplasia", "mental retardation and microcephaly with pontine and cerebellar hypoplasia", "mental retardation, X-linked, syndromic, Najm type", "syndromic X-linked intellectual disability Najm type", "X-linked intellectual disability - microcephaly - pontocerebellar hypoplasia", "microcephaly with pontine and cerebellar hypoplasia" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "A rare cerebellar dysgenesis syndrome characterized by variable clinical manifestations ranging from mild intellectual deficit with or without congenital nystagmus, to severe cognitive impairment associated with cerebellar and pontine hypoplasia/atrophy and abnormalities of cortical development." }, "child_count": 0, "reference_id": "MONDO:0010417" }, { "id": 11623, "label": "X-linked cerebral-cerebellar-coloboma syndrome syndrome", "isLeaf": true, "isRoot": false, "parents": [ 19709 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0017006", "MEDGEN:477118", "OMIM:300864", "Orphanet:163961", "UMLS:C3275487" ], "synonyms": [ "X-linked intellectual disability, Kroes type", "cerebral-cerebellar-coloboma syndrome, X-linked, X-linked recessive", "X-linked cerebral-cerebellar-coloboma syndrome", "cerebral-cerebellar-coloboma syndrome, X-linked" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "A rare, genetic syndrome with a cerebellar malformation as major feature characterized by cerebellar vermis hypo- or aplasia, ventriculomegaly, agenesis of corpus callosum and abnormalities of the brainstem and cerebral cortex in association with ocular coloboma. Clinically, patients show hydrocephalus at birth, neonatal hypotonia with abnormal breathing pattern, ocular abnormalities with impaired vision, severe psychomotor delay, and seizures." }, "child_count": 0, "reference_id": "MONDO:0010464" }, { "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": 11758, "label": "holoprosencephaly-hypokinesia-congenital contractures syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4427, 19709 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0003788", "MEDGEN:336097", "MESH:C564409", "OMIM:306990", "Orphanet:2570", "SCTID:716169009", "UMLS:C1844016" ], "synonyms": [ "Morse-Rawnsley-Sargent syndrome", "holoprosencephaly-fetal akinesia/hypokinesia sequence syndrome", "holoprosencephaly with fetal akinesia/hypokinesia sequence", "holoprosencephaly with foetal akinesia/hypokinesia sequence" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "An extremely rare and fatal central nervous system malformation occurring during embryogenesis, presenting prenatally with holoprosencephaly and fetal hypokinesia as major features. Other manifestations include microcephaly, multiple contractures and intrauterine growth restriction. An X-linked recessive inheritance has been suggested." }, "child_count": 0, "reference_id": "MONDO:0010610" }, { "id": 12188, "label": "aprosencephaly cerebellar dysgenesis", "isLeaf": true, "isRoot": false, "parents": [ 19709 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0004518", "MEDGEN:330459", "MESH:C563331", "OMIM:601374", "Orphanet:1126", "UMLS:C1832412" ], "synonyms": [ "aprosencephaly and cerebellar dysgenesis" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ] }, "child_count": 0, "reference_id": "MONDO:0011062" }, { "id": 12279, "label": "Gomez-Lopez-Hernandez syndrome", "isLeaf": true, "isRoot": false, "parents": [ 19709 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0000229", "MEDGEN:163201", "MESH:C537285", "OMIM:601853", "Orphanet:1532", "SCTID:722451006", "UMLS:C0795959" ], "synonyms": [ "Cerebellotrigeminal-dermal dysplasia syndrome", "Gomez-Lopez-Hernandez syndrome", "craniosynostosis-alopecia-brain defect syndrome", "Cerebellotrigeminal dermal dysplasia", "Cerebellotrigeminal dermal dysplasia cerebello-trigeminal-dermal dysplasia", "Cerebellotrigeminal-dermal dysplasia", "GLHS", "GOMEZ-LOPEZ-HERNANDEZ syndrome", "Gomez Lopez Hernandez syndrome", "Gomez-Lopez-Hernández syndrome", "Gómez-López-Hernández syndrome" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "A syndrome, which may be classified among the neurocutaneous syndromes, associates abnormalities of the cerebellum (rhombencephalosynapsis), cranial nerves (trigeminal anesthesia), and scalp (alopecia). It has been reported in 11 individuals so far. Other features observed in patients were craniosynostosis, midfacial hypoplasia, bilateral corneal opacities, low-set ears, short stature, moderate intellectual impairment and ataxia. Hyperactivity, depression, self-injurious behavior and bipolar disorder have also been reported." }, "child_count": 0, "reference_id": "MONDO:0011157" }, { "id": 12766, "label": "PHACE syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4427, 6967, 16088, 19709 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0008338", "MEDGEN:376231", "MedDRA:10068032", "NORD:1927", "OMIM:606519", "Orphanet:42775", "UMLS:C1847874", "icd11.foundation:1825849023" ], "synonyms": [ "pascual-Castroviejo syndrome type 2", "P-CIIS", "PHACE association", "Phaces association", "Posterior fossa brain malformations, hemangiomas of the face, arterial anomalies, cardiac anomalies, and eye abnormalities", "aortic aneurysm, giant congenital", "pascual-Castroviejo type II syndrome" ], "categories": [ { "ref": "MONDO:0004995", "name": "cardiovascular disorder" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "PHACE is an acronym used to describe a syndrome characterized by the association of posterior fossa brain malformations, large facial haemangiomas, anatomical anomalies of the cerebral arteries, aortic coarctation and other cardiac anomalies, and eye abnormalities. Sternal anomalies are also sometimes present, and in these cases the syndrome is referred to as PHACES. Two additional manifestations have recently been added to the clinical spectrum of PHACE syndrome: stenosis of the vessels at the base of the skull and segmental longitudinal dilations of the internal carotid artery." }, "child_count": 0, "reference_id": "MONDO:0011676" }, { "id": 12856, "label": "B4GALT1-congenital disorder of glycosylation", "isLeaf": true, "isRoot": false, "parents": [ 4427, 7157, 16198, 17978, 19709, 24270 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0070256", "GARD:0009841", "MEDGEN:419310", "MESH:C535753", "OMIM:607091", "Orphanet:79332", "SCTID:725587007", "UMLS:C2931009" ], "synonyms": [ "B4GALT1-CDG", "B4GALT1-congenital disorder of glycosylation", "Beta-1,4-galactosyltransferase deficiency", "CDG syndrome type IId", "CDG-IId", "CDG2D", "carbohydrate deficient glycoprotein syndrome type IId", "congenital disorder of glycosylation type 2d", "congenital disorder of glycosylation type IId", "B4GALT1-CDG (CDG-IId)", "CDG 2D", "CDG IId", "congenital disorder of glycosylation, type IId" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "B4GALT1-CDG is a congenital disorder of glycosylation characterized by macrocephaly due to Dandy-Walker malformation, hydrocephaly, hypotonia, myopathy and coagulation anomalies. To date, only one case has been reported. The syndrome is associated with mutations in the GALT1 gene (localized to region q13 of chromosome 9) leading to a deficiency in the Golgi apparatus enzyme beta-1,4-galactosyl transferase." }, "child_count": 0, "reference_id": "MONDO:0011772" }, { "id": 13254, "label": "permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome", "isLeaf": true, "isRoot": false, "parents": [ 16198, 16920, 19709, 24270 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0016670", "MEDGEN:332288", "MESH:C563796", "OMIM:609069", "Orphanet:65288", "UMLS:C1836780" ], "synonyms": [ "pancreatic and cerebellar agenesis", "diabetes mellitus, permanent neonatal, with cerebellar agenesis", "paca" ], "categories": [ { "ref": "MONDO:0004335", "name": "digestive system disorder" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" }, { "ref": "MONDO:0005151", "name": "endocrine system disorder" } ], "definition": "Permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome is characterized by neonatal diabetes mellitus associated with cerebellar and/or pancreatic agenesis." }, "child_count": 0, "reference_id": "MONDO:0012192" }, { "id": 14743, "label": "hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism", "isLeaf": true, "isRoot": false, "parents": [ 4370, 6772, 6875, 19709, 24672, 24677 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0060797", "GARD:0018624", "MEDGEN:482274", "MESH:C535353", "OMIM:213002", "OMIM:614381", "Orphanet:85186", "UMLS:C3280644" ], "synonyms": [ "HLD8", "POLR3B leukodystrophy", "endosteal sclerosis-cerebellar hypoplasia syndrome", "leukodystrophy caused by mutation in POLR3B", "cerebellar hypoplasia with endosteal sclerosis", "leukodystrophy, hypomyelinating, 8, with or without oligodontia and/or hypogonadotropic hypogonadism" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0005039", "name": "reproductive system disorder" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" }, { "ref": "MONDO:0005151", "name": "endocrine system disorder" } ], "definition": "Any leukodystrophy in which the cause of the disease is a mutation in the POLR3B gene." }, "child_count": 0, "reference_id": "MONDO:0013722" }, { "id": 14871, "label": "pontine tegmental cap dysplasia", "isLeaf": true, "isRoot": false, "parents": [ 19709 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0010919", "MEDGEN:762040", "OMIM:614688", "Orphanet:269229", "UMLS:C3541340" ], "synonyms": [ "PTCD", "pontine tegmental cap dysplasia", "PONTINE tegmental CAP dysplasia" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "Pontine tegmental cap dysplasia (PTCD) is a non-progressive neurological disorder characterized by significant developmental delay, cranial nerve dysfunction, and malformation of the hindbrain.Individuals with PTCD may have a collection of medical and developmental problems including: hearing impairment, ataxia,language and speech disorders, feeding and swallowingdifficulties, heartmalformations and facial paralysis.The severity of themedical problems varies among patients. Some patients have a good long-term prognosiswith normal intelligence and partial speech. The cause of PTCD has not been identified. Treatment is focused on managing the underlying symptoms and may include interventions such as cochlear implantation." }, "child_count": 0, "reference_id": "MONDO:0013858" }, { "id": 15421, "label": "ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome", "isLeaf": true, "isRoot": false, "parents": [ 19709, 24270 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0017597", "MEDGEN:863258", "OMIM:615960", "Orphanet:370022", "UMLS:C4014821" ], "synonyms": [ "Poretti-Boltshauser syndrome", "ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome", "PORETTI-Boltshauser syndrome", "PTBHS" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "Ataxia-intellectual disability-oculomotor apraxia-cerebellar cysts syndrome is a rare neuro-ophthalmological disease characterized by nonprogressive cerebellar ataxia, delayed motor and language development, and intellectual disability in addition to ophthalmological abnormalities (e.g. oculomotor apraxia, strabismus, amblyopia, retinal dystrophy, and myopia). Cerebellar cysts, cerebellar dysplasia and cerebellar vermis hypoplasia, seen on magnetic resonance imaging, are also characteristic of the disease." }, "child_count": 0, "reference_id": "MONDO:0014419" }, { "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": 15551, "label": "lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4427, 16094, 18845, 19709, 24270 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0017743", "MEDGEN:864138", "OMIM:616258", "Orphanet:439897", "UMLS:C4015701" ], "synonyms": [ "Meckel syndrome type 12", "MKS12", "Meckel syndrome 12" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "Lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome is a rare, genetic developmental defect during embryogenesis malformation syndrome characterized by intrauterine growth restriction, flexion arthrogryposis of all joints, severe microcephaly, renal cystic dysplasia/agenesis/hypoplasia and complex malformations of the brain (cerebral and cerebellar hypoplasia, vermis, corpus callosum and/or occipital lobe agenesis, with or without arhinencephaly), as well as of the genitourinary tract (ureteral agenesis/hypoplasia, uterine hypoplasia and/or vaginal atresia), leading to fetal demise." }, "child_count": 0, "reference_id": "MONDO:0014552" }, { "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": 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": 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": 16688, "label": "isolated cerebellar vermis hypoplasia", "isLeaf": true, "isRoot": false, "parents": [ 19709 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0020337", "MEDGEN:1638500", "Orphanet:199630", "SCTID:766709000", "UMLS:C4707794" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "Isolated cerebellar vermis hypoplasia is a rare, non-syndromic cerebellar malformation characterized by an underdeveloped cerebellar vermis. Patients may present a variable phenotype ranging from normal neurodevelopment to motor and/or language delay, variable degrees of cognitive impairment, hypotonia, equilibrium disturbances, static/dynamic ataxia, oculomotor abnormalities, epilepsy and/or clumsiness. Behavioral disorders such as attention deficit hyperactivity disorder and generalized anxiety have also been reported. Brain MRI may reveal diffuse or selective (mostly posterior) vermian cerebellar hypoplasia and EEG may show focal paroxysms." }, "child_count": 0, "reference_id": "MONDO:0016053" }, { "id": 16760, "label": "cerebral gigantism-jaw cysts syndrome", "isLeaf": true, "isRoot": false, "parents": [ 19709 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0001206", "Orphanet:2081", "SCTID:725418006" ], "synonyms": [ "Cramer-Niederdellmann syndrome", "Cramer Niederdellmann syndrome", "cerebral gigantism jaw cysts" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "Cerebral gigantism-jaw cysts syndrome is characterized by cerebral gigantism associated with a jaw cyst basal cell naevoid syndrome." }, "child_count": 0, "reference_id": "MONDO:0016161" }, { "id": 16855, "label": "holoprosencephaly-caudal dysgenesis syndrome", "isLeaf": true, "isRoot": false, "parents": [ 19709 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0002722", "MEDGEN:1653112", "Orphanet:2165", "UMLS:C4749731" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "A central nervous system malformation syndrome characterized by holoprosencephaly with microcephaly, abnormal eye morphology (hypotelorism, cyclopia, exophthalmos), nasal anomalies (single nostril or absent nose), and cleft lip/palate, combined with signs of caudal regression (sacral agenesis, sirenomelia with absent external genitalia)." }, "child_count": 0, "reference_id": "MONDO:0016299" }, { "id": 16896, "label": "Joubert syndrome with ocular defect", "isLeaf": false, "isRoot": false, "parents": [ 4370, 16225, 19709, 21415 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0010168", "MEDGEN:909607", "Orphanet:220493", "SCTID:716998009", "UMLS:C4274118", "icd11.foundation:1358617785" ], "synonyms": [ "JS-O", "Joubert syndrome with retinopathy", "JBTS3", "Joubert syndrome 3", "Joubert syndrome with ocular anomalies" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" }, { "ref": "MONDO:0024458", "name": "disorder of visual system" } ], "definition": "Joubert syndrome with ocular defect is, along with pure JS, the most frequent subtype of Joubert syndrome and related disorders (JSRD) characterized by the neurological features of JS associated with retinal dystrophy." }, "child_count": 20, "reference_id": "MONDO:0016364" }, { "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": 17480, "label": "glioependymal/ependymal cyst", "isLeaf": true, "isRoot": false, "parents": [ 19709 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0020989", "MEDGEN:90929", "Orphanet:269197", "UMLS:C0338599" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "Glioependymal/ependymal cyst is a rare central nervous system malformation defined as a subarachnoid, supratentorial, interventricular or intraspinal, sometimes intracerebral or intramedullar cyst with an internal ependymal lining, possibly surrounded by glial tissue. It may be an incidental finding or may present at different ages with clinical features depending on its size and location. It may distort adjacent brain structures and cause macrocephaly, ventriculomegaly, hydrocephalus, focal neurological signs and other signs and symptoms. In some cases, it is associated with other cerebral malformations (e.g. corpus callosum agenesis, polymicrogyria, heterotopias)." }, "child_count": 0, "reference_id": "MONDO:0017105" }, { "id": 17482, "label": "isolated cerebellar vermis agenesis", "isLeaf": false, "isRoot": false, "parents": [ 19709 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0020990", "MEDGEN:1814464", "Orphanet:269203", "UMLS:C5680776" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ] }, "child_count": 2, "reference_id": "MONDO:0017107" }, { "id": 17487, "label": "isolated unilateral hemispheric cerebellar hypoplasia", "isLeaf": true, "isRoot": false, "parents": [ 19709 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0020995", "MEDGEN:1638819", "Orphanet:269218", "SCTID:766934006", "UMLS:C4707885", "icd11.foundation:1960392411" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "Isolated unilateral hemispheric cerebellar hypoplasia is a rare, non-syndromic cerebellar malformation characterized by loss of volume in the right or left cerebellar hemisphere, with intact vermis and no other neurological anomalies (i.e. normal cerebral hemispheres, fourth ventricle, pons, medulla and midbrain). Patients may be asymptomatic or may present developmental and speech delay, hypotonia, abnormal ocular movements, persistent headaches and/or peripheral vertigo and ataxia. Neurological examination is otherwise normal." }, "child_count": 0, "reference_id": "MONDO:0017112" }, { "id": 17488, "label": "isolated bilateral hemispheric cerebellar hypoplasia", "isLeaf": true, "isRoot": false, "parents": [ 19709 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0020996", "MEDGEN:1657026", "Orphanet:269221", "UMLS:C4749791", "icd11.foundation:1366151963" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "Isolated bilateral hemispheric cerebellar hypoplasia is a rare cerebellar malformation characterized by hypoplasia of both cerebellar hemispheres with no other cerebellar/cerebral anomaly or other associated clinical feature. Affected patients present with mild hypotonia with motor delay, mild cognitive impairment, language delay, visuospatial and verbal memory deficits, dysdiadochokinesis, intentional tremor, and possible presence of emotional fragility and mild depression." }, "child_count": 0, "reference_id": "MONDO:0017113" }, { "id": 18211, "label": "Hoyeraal-Hreidarsson syndrome", "isLeaf": true, "isRoot": false, "parents": [ 11737, 19709, 24270 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0000346", "MEDGEN:337518", "MESH:C536068", "Orphanet:3322", "SCTID:707276009", "UMLS:C1846142", "icd11.foundation:340127408" ], "synonyms": [ "progressive pancytopenia-immunodeficiency-cerebellar hypoplasia syndrome", "Growth retardation prenatal with progressive pancytopenia and cerebellar hypoplasia", "Hoyeraal Hreidarsson syndrome" ], "categories": [ { "ref": "MONDO:0002051", "name": "integumentary system disorder" }, { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "Hoyeraal-Hreidarsson syndrome (HHS) is a very rare X-linked recessive disorder considered to be a severe variant of dyskeratosis congenita characterized by intrauterine growth retardation, microcephaly, cerebellar hypoplasia, progressive combined immune deficiency and aplastic anemia." }, "child_count": 0, "reference_id": "MONDO:0018045" }, { "id": 18236, "label": "neural tube defect", "isLeaf": false, "isRoot": false, "parents": [ 19709 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0080074", "GARD:0018796", "ICD9:742.8", "MEDGEN:18009", "MESH:D009436", "NCIT:C84923", "Orphanet:3388", "SCTID:253098009", "UMLS:C0027794" ], "synonyms": [ "NTD", "spinal dysraphism" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "A congenital defect characterized by failure of the neural tube to close completely; this results in the presence of openings in the brain or spinal cord. Examples of neural tube defects include encephalocele and spina bifida." }, "child_count": 12, "reference_id": "MONDO:0018075" }, { "id": 18478, "label": "partial corpus callosum agenesis-cerebellar vermis hypoplasia with posterior fossa cysts syndrome", "isLeaf": true, "isRoot": false, "parents": [ 19709 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0021707", "MEDGEN:1660429", "Orphanet:401959", "UMLS:C4750913" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "A rare, hereditary, cerebral malformation with epilepsy syndrome characterized by severe global developmental delay with no ability to walk and no verbal language, intractable epilepsy, partial agenesis of the corpus callosum and cerebellar vermis hypoplasia with posterior fossa cysts." }, "child_count": 0, "reference_id": "MONDO:0018430" }, { "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": 18728, "label": "tubulinopathy-associated dysgyria", "isLeaf": true, "isRoot": false, "parents": [ 19709, 23895 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0021944", "MEDGEN:1800273", "Orphanet:467166", "UMLS:C5568850" ], "synonyms": [ "brain stem asymmetry-superior cerebellar and basal ganglia dysplasia syndrome" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ] }, "child_count": 0, "reference_id": "MONDO:0018763" }, { "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": 18868, "label": "rhombencephalosynapsis", "isLeaf": true, "isRoot": false, "parents": [ 19709 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0018855", "ICD9:742.4", "MEDGEN:356456", "Orphanet:59315", "SCTID:442300000", "UMLS:C1866130", "icd11.foundation:2112180041" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "Rhombencephalosynapsis (RS) is a rare malformation of the cerebellum characterized by the association of agenesis (total or partial) of the vermis and fusion of the cerebellar hemispheres." }, "child_count": 0, "reference_id": "MONDO:0018946" }, { "id": 18917, "label": "Lhermitte-Duclos disease", "isLeaf": true, "isRoot": false, "parents": [ 17182, 19709 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0006901", "ICDO:9493/0", "MEDGEN:140251", "NCIT:C8419", "Orphanet:65285", "UMLS:C0391826" ], "synonyms": [ "LDD", "dysplastic cerebellar gangliocytoma", "dysplastic gangliocytoma of cerebellum", "dysplastic gangliocytoma of the cerebellum" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "Lhermitte-Duclos disease (LDD) is a very rare disorder characterized by abnormal development and enlargement of the cerebellum, and an increased intracranial pressure." }, "child_count": 0, "reference_id": "MONDO:0019002" }, { "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": 19012, "label": "spinal muscular atrophy-Dandy-Walker malformation-cataracts syndrome", "isLeaf": true, "isRoot": false, "parents": [ 19709 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0018922", "MEDGEN:1393821", "Orphanet:73245", "UMLS:C4509964" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ] }, "child_count": 0, "reference_id": "MONDO:0019132" }, { "id": 19751, "label": "cystic malformation of the posterior fossa", "isLeaf": false, "isRoot": false, "parents": [ 19709 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0025153", "ICD9:742.4", "MEDGEN:783289", "Orphanet:98520", "SCTID:35111000119109", "UMLS:C3662134" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ] }, "child_count": 4, "reference_id": "MONDO:0020134" }, { "id": 19752, "label": "pontocerebellar hypoplasia", "isLeaf": false, "isRoot": false, "parents": [ 19709, 24270 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0060264", "GARD:0010977", "MEDGEN:224703", "MESH:C580383", "NORD:1596", "OMIMPS:607596", "Orphanet:98523", "SCTID:45163000", "UMLS:C1261175", "icd11.foundation:1565266279" ], "synonyms": [ "PCH", "pontocerebellar hypoplasia", "pontoneocerebellar atrophy", "pontoneocerebllar hypoplasia", "isolated pontocerebellar hypoplasia", "nonsyndromic pontocerebellar hypoplasia" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "Pontocerebellar hypoplasias (PCH) are a rare heterogeneous group of diseases characterized by hypoplasia and atrophy and/or early neurodegeneration of the cerebellum and pons. Eight subtypes named type 1-8 have been described, generally inherited in an autosomal recessive pattern." }, "child_count": 42, "reference_id": "MONDO:0020135" }, { "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": 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": 24020, "label": "overgrowth syndrome and/or cerebral malformations due to abnormalities in MTOR pathway genes", "isLeaf": false, "isRoot": false, "parents": [ 19709 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0026123" ], "synonyms": [ "overgrowth syndrome and/or cerebral malformations due to abnormalities in MTOR pathway genes" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "A disease caused by mosaic gain-of-function (GoF) of several genes in the MTOR pathway (MTOR, PIK3CA, PIK3R2 and AKT3) are functionally the same despite significant phenotypic variability. These GoF variants result in overgrowth due to an over-activation of key genes in this pathway. The phenotypic variability is generally attributed to the mosaic fraction and affected tissue types. For example, macrocephaly is noted if the variant is identified in the brain, but non symmetric overgrowth of that limb is noted when the variant is only present in the affected limb. The pathologies of the affected tissue often reveal similar characteristics such as cellular overgrowth. However, this is not always the case especially with focal cortical dysplasia. At times the characteristics pathologies are not present in the tissue but sampling biases are an issue. FCD resections often involve a very small area and so a very small amount of tissue is available for pathology and it is not guaranteed that lesional tissue is sent. Therefore, having a single disease term which can encompass the phenotypic variability yet provide a unifying molecular diagnosis name makes sense given the common functional mechanism." }, "child_count": 5, "reference_id": "MONDO:0100283" }, { "id": 25592, "label": "hereditary cerebral malformation", "isLeaf": true, "isRoot": false, "parents": [ 19709 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0021004", "MEDGEN:1842500", "Orphanet:269553", "UMLS:C5679762" ], "synonyms": [ "genetic cerebral malformation" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ] }, "child_count": 0, "reference_id": "MONDO:0957008" }, { "id": 25962, "label": "isolated arhinencephaly", "isLeaf": true, "isRoot": false, "parents": [ 19709 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0020979", "MEDGEN:1650277", "Orphanet:268936", "UMLS:C4749732" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "Isolated arhinencephaly is a rare non-syndromic central nervous system malformation defined by the agenesis of the olfactory bulbs and tracts and characterized by complete congenital anosmia." }, "child_count": 0, "reference_id": "MONDO:0968959" } ], "roots": [ { "id": 6799, "label": "nervous system disorder" }, { "id": 19507, "label": "developmental defect during embryogenesis" } ] }