{ "id": 24270, "label": "hereditary neurological disease", "model": { "label": "Mondo Disease Ontology (MONDO)", "source": 0 }, "type_id": 0, "reference_id": "MONDO:0100545", "properties": { "synonyms": [ "neurogenetic disease" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "A heterogeneous group of genetic conditions with Mendelian (autosomal dominant, recessive, or X-linked) or chromosomal etiology characterized by abnormalities in the brain, spinal cord, nerves, or muscles." }, "isLeaf": false, "isRoot": false, "child_count": 264, "parents": [ { "id": 5714, "label": "hereditary disease", "isLeaf": false, "isRoot": false, "parents": [ 29382 ], "type_id": 0, "properties": { "xrefs": [ "DOID:630", "EFO:0000508", "ICD9:799.89", "MEDGEN:5527", "MESH:D030342", "NCIT:C3101", "SCTID:32895009", "UMLS:C0019247" ], "synonyms": [ "genetic condition", "genetic disease", "genetic disorder", "hereditary disease", "hereditary disease or disorder", "hereditary diseases", "inherited disease", "inherited genetic disease", "molecular disease", "Mendelian disease", "familial disorder", "inborn disorder" ], "definition": "A disease that is caused by genetic modifications where those modifications are inherited from a parent's genome." }, "child_count": 1925, "reference_id": "MONDO:0003847" }, { "id": 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" } ], "children": [ { "id": 2738, "label": "leukoencephalopathy, megalencephalic", "isLeaf": false, "isRoot": false, "parents": [ 7209, 24270 ], "type_id": 0, "properties": { "xrefs": [ "OMIMPS:604004" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ] }, "child_count": 6, "reference_id": "MONDO:0000137" }, { "id": 2751, "label": "epilepsy, familial adult myoclonic", "isLeaf": false, "isRoot": false, "parents": [ 24270, 24301 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0111689", "GARD:0022720", "OMIMPS:601068" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "An epilepsy syndrome characterized by adult-onset cortical myoclonus typically first seen as tremulous finger movements and myoclonus of the extremities." }, "child_count": 16, "reference_id": "MONDO:0000160" }, { "id": 2753, "label": "encephalopathy, acute, infection-induced", "isLeaf": false, "isRoot": false, "parents": [ 7209, 20092, 20718, 24270 ], "type_id": 0, "properties": { "xrefs": [ "OMIMPS:610551" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ] }, "child_count": 4, "reference_id": "MONDO:0000166" }, { "id": 2762, "label": "GLUT1 deficiency syndrome", "isLeaf": false, "isRoot": false, "parents": [ 19082, 23511, 23787, 24270 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0070560", "GARD:0022724", "MEDGEN:337833", "NANDO:1200799", "OMIMPS:606777", "UMLS:C1847501" ], "synonyms": [ "GLUT1 deficiency syndrome", "GLUT1DS" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "An epileptic encephalopathy resulting from impaired glucose transport into the brain." }, "child_count": 8, "reference_id": "MONDO:0000188" }, { "id": 2912, "label": "paraganglioma", "isLeaf": false, "isRoot": false, "parents": [ 4464, 19314, 20691, 24270 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0050773", "EFO:1000453", "GARD:0022770", "ICD9:239.7", "ICDO:8680/1", "MEDGEN:10571", "MESH:D010235", "NCIT:C3308", "ONCOTREE:PGNG", "SCTID:127027008", "UMLS:C0030421" ], "synonyms": [ "Paraganglionic neoplasm", "Paraganglionic tumor", "Paraganglionic tumour", "neoplasm of paraganglion", "neoplasm of the paraganglion", "paraganglioma", "paragangliomas", "paraganglion neoplasm", "paraganglion tumor", "paraganglion tumour", "tumor of paraganglion", "tumor of the paraganglion", "tumour of paraganglion", "tumour of the paraganglion", "chemodectoma" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" }, { "ref": "MONDO:0005151", "name": "endocrine system disorder" } ], "definition": "A benign or malignant neoplasm arising from paraganglia located along the sympathetic or parasympathetic nerves. Infrequently, it may arise outside the usual distribution of the sympathetic and parasympathetic paraganglia. Tumors arising from the adrenal gland medulla are called pheochromocytomas. Morphologically, paragangliomas usually display a nesting (Zellballen) growth pattern. There are no reliable morphologic criteria to distinguish between benign and malignant paragangliomas. The only definitive indicator of malignancy is the presence of regional or distant metastases." }, "child_count": 48, "reference_id": "MONDO:0000448" }, { "id": 3089, "label": "familial hemiplegic migraine", "isLeaf": false, "isRoot": false, "parents": [ 18849, 24270 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0060178", "GARD:0010975", "ICD9:346.8", "MEDGEN:87374", "NCIT:C117009", "OMIMPS:141500", "SCTID:95656000", "UMLS:C0338484", "icd11.foundation:1827007904" ], "synonyms": [ "FHM", "familial hemiplegic migraine", "hereditary hemiplegic migraine", "hemiplegic migraine, familial", "hemiplegic-ophthalmoplegic migraine" ], "categories": [ { "ref": "MONDO:0004995", "name": "cardiovascular disorder" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "A migraine disorder characterized by individual and family history of aura that includes motor weakness." }, "child_count": 10, "reference_id": "MONDO:0000700" }, { "id": 3104, "label": "stutter disorder", "isLeaf": false, "isRoot": false, "parents": [ 6506, 6521, 24270 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0060243", "MEDGEN:20932", "NCIT:C35043", "OMIMPS:184450", "UMLS:C0038131" ], "synonyms": [ "stutter", "familial persistent stuttering", "stuttering, familial persistent" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "A speech disorder characterized by frequent sound or syllable repetitions, sound prolongations, or other dysfluencies that are inappropriate for the individual's age." }, "child_count": 12, "reference_id": "MONDO:0000723" }, { "id": 3105, "label": "specific language impairment", "isLeaf": false, "isRoot": false, "parents": [ 6521, 24270 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0060244", "EFO:1001510", "MEDGEN:627772", "OMIMPS:606711", "Orphanet:458713", "UMLS:C0454651", "icd11.foundation:862918022" ], "synonyms": [ "language impairment (disease)" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "A language disorder characterized by difficulty in language acquisition despite otherwise normal development and in the absence of any obvious explanatory factors." }, "child_count": 10, "reference_id": "MONDO:0000724" }, { "id": 3145, "label": "anencephaly", "isLeaf": false, "isRoot": false, "parents": [ 4427, 24270 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0060668", "GARD:0027563", "ICD10CM:Q00.0", "MEDGEN:8068", "MESH:D000757", "NCIT:C84560", "OMIMPS:206500", "UMLS:C0002902", "icd11.foundation:1292761836" ], "synonyms": [ "anencephalus" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "A rare neural tube defect during pregnancy, resulting in the absence of a large portion of the brain and skull in the fetus." }, "child_count": 8, "reference_id": "MONDO:0000819" }, { "id": 3180, "label": "complex cortical dysplasia with other brain malformations", "isLeaf": false, "isRoot": false, "parents": [ 7209, 20383, 24270 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0090131", "OMIMPS:614039" ], "synonyms": [ "complex cortical dysplasia with other brain malformations", "cortical dysplasia, complex, with other brain malformations" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ] }, "child_count": 36, "reference_id": "MONDO:0000904" }, { "id": 3261, "label": "familial periodic paralysis", "isLeaf": false, "isRoot": false, "parents": [ 6470, 16738, 24270 ], "type_id": 0, "properties": { "xrefs": [ "DOID:1029", "GARD:0021613", "MEDGEN:18291", "MESH:D010245", "NANDO:1200502", "NCIT:C84709", "Orphanet:371433", "SCTID:267607008", "UMLS:C0030443" ], "synonyms": [ "familial periodic paralysis", "hereditary periodic paralysis (disease)", "familial periodic paralyses", "familial periodic paralyzes", "genetic periodic paralysis", "normokalemic periodic paralyses", "normokalemic periodic paralysis", "normokalemic periodic paralyzes", "paralysis, familial periodic", "paralysis, normokalemic periodic", "paralyzes, normokalemic periodic", "periodic paralysis, familial", "periodic paralysis, normokalemic", "periodic paralyzes, familial", "periodic paralyzes, normokalemic" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "A group of genetic neurological disorders caused by mutations in genes involved in the sodium and calcium channels in nerve cells. It is characterized by episodes of muscle paralysis in which the affected muscles become flaccid and the deep tendon reflexes disappear. Between the episodes the affected muscles usually work normally." }, "child_count": 18, "reference_id": "MONDO:0000995" }, { "id": 3921, "label": "tuberous sclerosis", "isLeaf": false, "isRoot": false, "parents": [ 2903, 16218, 23107, 24270 ], "type_id": 0, "properties": { "xrefs": [ "DOID:13515", "GARD:0007830", "ICD10CM:Q85.1", "ICD9:759.5", "MEDGEN:22518", "MESH:D014402", "MedDRA:10045138", "NANDO:1200607", "NANDO:2200826", "NCIT:C3424", "NORD:1802", "OMIMPS:191100", "Orphanet:805", "SCTID:7199000", "UMLS:C0041341", "icd11.foundation:1903085809" ], "synonyms": [ "Bourneville disease", "Bourneville syndrome", "Bourneville's disease", "Bourneville's syndrome", "TSC", "epiloia", "tuberous sclerosis", "tuberous sclerosis complex", "tuberous sclerosis syndrome", "adenoma sebaceum", "adenoma sebaceum syndrome" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "Hereditary disease characterized by seizures, intellectual disability, developmental delay, and skin and ocular lesions. First signs usually occur during infancy or childhood but in rare cases may not occur until 2nd or 3rd decade." }, "child_count": 8, "reference_id": "MONDO:0001734" }, { "id": 5181, "label": "essential tremor", "isLeaf": false, "isRoot": false, "parents": [ 7073, 24270 ], "type_id": 0, "properties": { "xrefs": [ "DOID:4990", "EFO:0003108", "ICD10CM:G25.0", "ICD9:333.1", "MEDGEN:78725", "MESH:D020329", "OMIMPS:190300", "Orphanet:862", "SCTID:609558009", "UMLS:C0270736" ], "synonyms": [ "essential hereditary tremor", "tremor, hereditary essential" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "A relatively common disorder characterized by a fairly specific pattern of tremors which are most prominent in the upper extremities and neck, inducing titubations of the head. The tremor is usually mild, but when severe may be disabling. An autosomal dominant pattern of inheritance may occur in some families (i.e., familial tremor). (Mov Disord 1988;13(1):5-10)" }, "child_count": 12, "reference_id": "MONDO:0003233" }, { "id": 6203, "label": "intracranial extraskeletal myxoid chondrosarcoma", "isLeaf": true, "isRoot": false, "parents": [ 4336, 13865, 24270 ], "type_id": 0, "properties": { "xrefs": [ "DOID:7903", "GARD:0023973", "MEDGEN:232660", "NCIT:C5462", "UMLS:C1334238" ], "synonyms": [ "intracranial extraskeletal myxoid chondrosarcoma", "intracranial chondrosarcoma" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "An extraskeletal myxoid chondrosarcoma arising from the structures within the cranium." }, "child_count": 0, "reference_id": "MONDO:0004392" }, { "id": 6901, "label": "Parkinson disease", "isLeaf": false, "isRoot": false, "parents": [ 20335, 24270 ], "type_id": 0, "properties": { "xrefs": [ "DOID:14330", "ICD10CM:G20", "ICD10WHO:G20", "ICD9:332", "ICD9:332.0", "MEDGEN:10590", "MESH:D010300", "NANDO:1200010", "NCIT:C26845", "OMIMPS:168600", "Orphanet:319705", "SCTID:49049000", "UMLS:C0030567", "birnlex:2098", "icd11.foundation:296066191" ], "synonyms": [ "PD", "Parkinson disease", "Parkinson's disease", "paralysis agitans" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "A progressive degenerative disorder of the central nervous system characterized by loss of dopamine producing neurons in the substantia nigra and the presence of Lewy bodies in the substantia nigra and locus coeruleus. Signs and symptoms include tremor which is most pronounced during rest, muscle rigidity, slowing of the voluntary movements, a tendency to fall back, and a mask-like facial expression." }, "child_count": 12, "reference_id": "MONDO:0005180" }, { "id": 6902, "label": "progressive external ophthalmoplegia", "isLeaf": false, "isRoot": false, "parents": [ 4427, 5353, 10856, 24270 ], "type_id": 0, "properties": { "xrefs": [ "DOID:12558", "EFO:0002509", "GARD:0004503", "HP:0000590", "ICD10CM:H49.4", "ICD9:378.72", "MEDGEN:102439", "MESH:D017246", "NANDO:1200174", "Orphanet:520820", "SCTID:46252003", "UMLS:C0162674", "icd11.foundation:1698427219" ], "synonyms": [ "chronic progressive external ophthalmoplegia [ambiguous]", "progressive external ophthalmoplegia", "chronic progressive external ophthalmoplegia" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "A mitochondrial myopathy characterized by slowly progressive paralysis of the levator palpebrae, orbicularis oculi, and extraocular muscles. Ragged-red fibers and atrophy are found on muscle biopsy. Familial and sporadic forms may occur. Disease onset is usually in the first or second decade of life, and the illness slowly progresses until usually all ocular motility is lost. (From Adams et al., Principles of Neurology, 6th ed, p1422)" }, "child_count": 12, "reference_id": "MONDO:0005181" }, { "id": 7080, "label": "myalgic encephalomeyelitis/chronic fatigue syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370, 5798, 20334, 24270 ], "type_id": 0, "properties": { "xrefs": [ "DOID:8544", "EFO:0004540", "ICD9:780.71", "ICD9:780.79", "MEDGEN:5130", "MESH:D015673", "NCIT:C3037", "Orphanet:1983", "SCTID:51771007", "UMLS:C0015674" ], "synonyms": [ "CFS", "chronic fatigue immune dysfunction syndrome", "chronic fatigue syndrome", "myalgic encephalitis", "myalgic encephalomyelitis", "systemic exertion intolerance disease" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0005046", "name": "immune system disorder" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "A medical condition characterized by long-term fatigue and other symptoms that limit a person's ability to carry out ordinary daily activities." }, "child_count": 0, "reference_id": "MONDO:0005404" }, { "id": 7260, "label": "cerebral amyloid angiopathy", "isLeaf": false, "isRoot": false, "parents": [ 12183, 18631, 24270 ], "type_id": 0, "properties": { "xrefs": [ "DOID:9246", "EFO:0006790", "GARD:0010266", "ICD10CM:I68.0", "ICD9:277.39", "MEDGEN:267610", "MESH:D016657", "NCIT:C84625", "Orphanet:85458", "SCTID:230724001", "UMLS:C1510489" ], "synonyms": [ "HCHWA", "dutch hereditary cerebral amyloid angiopathy", "hereditary cerebral haemorrhage with amyloidosis - Dutch type", "hereditary cerebral hemorrhage with amyloidosis - Dutch type", "CAA, familial", "cerebral amyloid angiopathy, familial", "cerebral amyloid angiopathy, genetic" ], "categories": [ { "ref": "MONDO:0004995", "name": "cardiovascular disorder" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "Hereditary cerebral hemorrhage with amyloidosis (HCHWA) describes a group of rare familial central nervous system disorders characterized by amyloid deposition in the cerebral blood vessels leading to hemorrhagic and non-hemorrhagic strokes, focal neurological deficits, and progressive cognitive decline eventually leading to dementia." }, "child_count": 12, "reference_id": "MONDO:0005620" }, { "id": 7341, "label": "congenital nystagmus", "isLeaf": false, "isRoot": false, "parents": [ 4427, 6600, 24270 ], "type_id": 0, "properties": { "xrefs": [ "DOID:9649", "EFO:0007217", "HP:0000639", "ICD10CM:H55.01", "ICD9:379.51", "MEDGEN:195995", "MESH:D020417", "OMIMPS:310700", "Orphanet:651", "SCTID:64635004", "UMLS:C0700501", "icd11.foundation:1626567380" ], "synonyms": [ "nystagmus", "congenital idiopathic nystagmus", "congenital pathologic nystagmus", "motor congenital nystagmus", "nystagmus, congenital" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "Nystagmus present at birth or caused by lesions sustained in utero or at the time of birth. It is usually pendular, and is associated with albinism and conditions characterized by early loss of central vision. Inheritance patterns may be X-linked, autosomal dominant, or recessive. (Adams et al., Principles of Neurology, 6th ed, p275)" }, "child_count": 30, "reference_id": "MONDO:0005712" }, { "id": 8526, "label": "Angelman syndrome", "isLeaf": false, "isRoot": false, "parents": [ 4370, 24270 ], "type_id": 0, "properties": { "xrefs": [ "DECIPHER:4", "DECIPHER:54", "DOID:1932", "GARD:0005810", "ICD10CM:Q93.51", "ICD9:759.89", "MEDGEN:58144", "MESH:C531619", "MESH:D017204", "MedDRA:10049004", "NANDO:1200686", "NANDO:2200960", "NCIT:C75462", "NORD:782", "OMIM:105830", "Orphanet:72", "SCTID:76880004", "UMLS:C0162635", "icd11.foundation:1106558408" ], "synonyms": [ "Angelman syndrome", "Angelman’s syndrome", "Angelman syndrome (Type 1)", "Angelman syndrome (Type 2)", "AS", "Angelman syndrome chromosome region", "happy puppet syndrome (formerly)", "happy puppet syndrome, formerly" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "A neurogenetic disorder characterized by severe intellectual deficit and distinct facial dysmorphic features." }, "child_count": 8, "reference_id": "MONDO:0007113" }, { "id": 8594, "label": "nevoid basal cell carcinoma syndrome", "isLeaf": false, "isRoot": false, "parents": [ 2903, 16218, 19507, 23107, 24270 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0070365", "DOID:2512", "GARD:0007166", "MEDGEN:2554", "MESH:D001478", "MedDRA:10062804", "NANDO:2200828", "NCIT:C2892", "NORD:1507", "OMIMPS:109400", "Orphanet:377", "SCTID:69408002", "UMLS:C0004779", "icd11.foundation:1012745138" ], "synonyms": [ "Gorlin syndrome", "Gorlin-Goltz syndrome", "NBCCS", "basal cell nevus syndrome", "multiple basal cell carcinomas", "nevoid basal cell cancer syndrome", "nevoid basal cell carcinoma syndrome", "BCNS", "multiple basal cell nevi, odontogenic keratocysts, and skeletal anomalies" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "A rare hereditary disorder due to autosomal dominant transmission with hamartosis characterized by multiple early-onset basal cell carcinoma (BCC), multiple jaw keratocysts and skeletal abnormalities." }, "child_count": 10, "reference_id": "MONDO:0007187" }, { "id": 8715, "label": "Chiari malformation type I", "isLeaf": true, "isRoot": false, "parents": [ 2730, 18236, 24270 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0009233", "MEDGEN:196689", "MedDRA:10056944", "OMIM:118420", "Orphanet:268882", "SCTID:253185002", "UMLS:C0750929", "icd11.foundation:1383121646" ], "synonyms": [ "Arnold-Chiari malformation type 1", "Arnold-Chiari malformation type I", "Chiari malformation type 1", "Chiari malformation type I", "Chiari malformation type 1 with syringomyelia", "Cm1", "Cm1 with syringomyelia" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "Arnold-Chiari malformation type I is a central nervous system malformation characterized by caudal displacement of the cerebellar tonsils exceeding 5mm below the foramen magnum with or without syringomyelia. Symptoms vary in onset and severity and include suboccipital headache, neck pain, vertigo, tinnitus, ocular symptoms (diplopia, blurred vision, photofobia, nystagmus), lower cranial nerve signs, cerebellar ataxia, and spasticity. Some affected individuals can be asymptomatic." }, "child_count": 0, "reference_id": "MONDO:0007316" }, { "id": 8722, "label": "choreoathetosis, familial inverted", "isLeaf": true, "isRoot": false, "parents": [ 3794, 24270 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0024549", "MEDGEN:348393", "MESH:C566127", "OMIM:118750", "UMLS:C1861569" ], "synonyms": [ "choreoathetosis, familial inverted", "infantile choreoathetosis of Fisher" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ] }, "child_count": 0, "reference_id": "MONDO:0007325" }, { "id": 8739, "label": "cluster headache, familial", "isLeaf": true, "isRoot": false, "parents": [ 23224, 24270 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0024553", "MEDGEN:350040", "MESH:C566117", "OMIM:119915", "UMLS:C1861513" ], "synonyms": [ "cluster headache, familial", "hereditary cluster headache syndrome" ], "categories": [ { "ref": "MONDO:0004995", "name": "cardiovascular disorder" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "An instance of cluster headache syndrome that is caused by an inherited modification of the individual's genome." }, "child_count": 0, "reference_id": "MONDO:0007344" }, { "id": 8747, "label": "coloboma of optic nerve", "isLeaf": false, "isRoot": false, "parents": [ 3690, 4014, 24270 ], "type_id": 0, "properties": { "xrefs": [ "DOID:11975", "GARD:0001438", "HP:0000588", "ICD9:377.23", "MEDGEN:57832", "MESH:C535970", "OMIM:120430", "Orphanet:98947", "SCTID:17541006", "UMLS:C0155299", "icd11.foundation:592278969" ], "synonyms": [ "coloboma of optic nerve (disease)", "coloboma of optic papilla", "optic nerve coloboma", "congenital coloboma of the optic nerve", "coloboma of optic disc", "morning glory Disc anomaly", "optic nerve head pits, bilateral congenital" ], "categories": [ { "ref": "MONDO:0002022", "name": "disorder of orbital region" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" }, { "ref": "MONDO:0024458", "name": "disorder of visual system" } ] }, "child_count": 3, "reference_id": "MONDO:0007354" }, { "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": 8830, "label": "major affective disorder 1", "isLeaf": true, "isRoot": false, "parents": [ 6726, 24270 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0080220", "MEDGEN:377615", "MESH:C565111", "OMIM:125480", "UMLS:C1852197" ], "synonyms": [ "MAFD1", "major affective disorder 1", "MAJOR affective disorder 1", "bipolar affective disorder", "manic-depressive psychosis", "manic-depressive psychosis, autosomal" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ] }, "child_count": 0, "reference_id": "MONDO:0007440" }, { "id": 8840, "label": "neurohypophyseal diabetes insipidus", "isLeaf": true, "isRoot": false, "parents": [ 2903, 5314, 6550, 16543, 23932, 24270 ], "type_id": 0, "properties": { "xrefs": [ "DOID:12388", "GARD:0016629", "MEDGEN:574999", "NANDO:2201050", "NCIT:C84933", "OMIM:125700", "Orphanet:30925", "SCTID:45369008", "UMLS:C0342394", "icd11.foundation:97299603" ], "synonyms": [ "ADH deficiency", "AVP deficiency", "Arginine vasopressin deficiency", "antidiuretic hormone deficiency", "diabetes insipidus of pituitary gland", "hereditary CDI", "hereditary neurogenic diabetes insipidus", "pituitary gland diabetes insipidus", "vasopressin deficiency", "diabetes insipidus, cranial type", "diabetes insipidus, neurohypophyseal", "diabetes insipidus, primary central", "hereditary central diabetes insipidus", "neurogenic diabetes insipidus" ], "categories": [ { "ref": "MONDO:0002118", "name": "urinary system disorder" }, { "ref": "MONDO:0005039", "name": "reproductive system disorder" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" }, { "ref": "MONDO:0005151", "name": "endocrine system disorder" } ], "definition": "Hereditary central diabetes insipidus is a rare genetic subtype of central diabetes insipidus (CDI) characterized by polyuria and polydipsia due to a deficiency in vasopressin (AVP) synthesis." }, "child_count": 0, "reference_id": "MONDO:0007450" }, { "id": 8860, "label": "Duane retraction syndrome", "isLeaf": false, "isRoot": false, "parents": [ 4370, 16052, 24270 ], "type_id": 0, "properties": { "xrefs": [ "DOID:12557", "GARD:0006288", "ICD10CM:H50.81", "ICD9:378.71", "MEDGEN:4413", "MESH:D004370", "MedDRA:10013799", "NCIT:C84678", "NORD:1062", "OMIMPS:126800", "Orphanet:233", "SCTID:60318001", "UMLS:C0013261" ], "synonyms": [ "DRS", "DURS", "Duane retraction syndrome", "Duane syndrome", "Duane's syndrome", "Stilling-Turk-Duane syndrome", "Duane anomaly", "retraction syndrome" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" }, { "ref": "MONDO:0024458", "name": "disorder of visual system" } ], "definition": "Duane retraction syndrome (DRS) is a congenital form of strabismus characterized by horizontal eye movement limitation, globe retraction and palpebral fissure narrowing in attempted adduction. It is caused by a failure of development of the abducens nerve and can lead to amblyopia." }, "child_count": 12, "reference_id": "MONDO:0007473" }, { "id": 8918, "label": "lateral meningocele syndrome", "isLeaf": true, "isRoot": false, "parents": [ 18236, 24270 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0111343", "GARD:0009873", "MEDGEN:342070", "MESH:C537878", "OMIM:130720", "Orphanet:2789", "UMLS:C1851710" ], "synonyms": [ "Lehman syndrome", "lateral meningocele syndrome", "LMNS", "Lms" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ] }, "child_count": 0, "reference_id": "MONDO:0007537" }, { "id": 8920, "label": "encephalopathy, recurrent, of childhood", "isLeaf": true, "isRoot": false, "parents": [ 4370, 7209, 23939, 24270 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0003949", "MEDGEN:342069", "MESH:C536407", "OMIM:130950", "Orphanet:2672", "UMLS:C1851708" ], "synonyms": [ "encephalopathy recurrent of childhood", "encephalopathy, recurrent, of childhood", "Neuhauser Eichner Opitz syndrome" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ] }, "child_count": 0, "reference_id": "MONDO:0007539" }, { "id": 8991, "label": "familial congenital palsy of trochlear nerve", "isLeaf": true, "isRoot": false, "parents": [ 4427, 16052, 24270, 24774 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0010355", "MEDGEN:338185", "MESH:C565007", "OMIM:136480", "Orphanet:91498", "UMLS:C1850996" ], "synonyms": [ "hereditary fourth cranial nerve palsy", "fourth cranial nerve palsy, familial congenital", "strabismus from Superior oblique palsy", "superior oblique oculomotor palsy, familial congenital", "trochlear nerve palsy, familial congenital" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" }, { "ref": "MONDO:0024458", "name": "disorder of visual system" } ], "definition": "An instance of fourth cranial nerve palsy that is caused by an inherited modification of the individual's genome." }, "child_count": 0, "reference_id": "MONDO:0007626" }, { "id": 9017, "label": "Gerstmann-Straussler-Scheinker syndrome", "isLeaf": true, "isRoot": false, "parents": [ 7097, 24270 ], "type_id": 0, "properties": { "xrefs": [ "DOID:4249", "GARD:0007690", "ICD10CM:A81.82", "ICD9:046.71", "MEDGEN:4886", "MESH:C535800", "MedDRA:10072075", "NANDO:1200190", "NCIT:C84727", "OMIM:137440", "Orphanet:356", "SCTID:67155006", "UMLS:C0017495", "icd11.foundation:406818835" ], "synonyms": [ "Gerstmann-Straussler-Scheinker disease", "prion dementia", "subacute spongiform encephalopathy, Gerstmann-Straussler type", "GSD", "Gerstmann Straussler Scheinker syndrome", "Gerstmann-Straussler disease", "amyloidosis cerebral with spongiform encephalopathy", "amyloidosis, cerebral, with spongiform encephalopathy", "cerebellar ataxia, progressive dementia, and amyloid deposits in CNS", "cerebellar ataxia, progressive dementia, and amyloid deposits in the central nervous system", "cerebral amyloid angiopathy, Prnp-related", "encephalopathy subacute spongiform Gerstmann-Straussler type", "encephalopathy, Subacute spongiform, Gerstmann-Straussler type" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "A very rare and fatal disorder of spongiform encephalopathy usually caused by mutations of the prion protein (PRNP) gene. It is characterized by the accumulation of amyloid in the brain. Signs and symptoms include lack of motor coordination, unsteady gait, and difficulty walking. As the disease progresses, patients develop speech difficulties and dementia." }, "child_count": 0, "reference_id": "MONDO:0007656" }, { "id": 9020, "label": "Tourette syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370, 4509, 7073, 24270 ], "type_id": 0, "properties": { "xrefs": [ "DOID:11119", "EFO:0004895", "ICD10CM:F95.2", "ICD9:307.23", "MEDGEN:21219", "MESH:D005879", "NCIT:C35078", "OMIM:137580", "Orphanet:856", "SCTID:5158005", "UMLS:C0040517", "icd11.foundation:119340957" ], "synonyms": [ "Tourette disease", "Tourette syndrome", "Tourette's syndrome", "motor-verbal tic disorder", "GTS", "Gilles De 50A Tourette syndrome", "Gilles de la Tourette syndrome", "Tourette disorder", "chronic motor tics" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "A neurologic disorder caused by defective metabolism of the neurotransmitters in the brain. It is characterized by repeated involuntary movements (motor tics) and uncontrollable vocal sounds (vocal tics). The symptoms are usually manifested before the age of eighteen." }, "child_count": 0, "reference_id": "MONDO:0007661" }, { "id": 9047, "label": "Guillain-Barre syndrome, familial", "isLeaf": true, "isRoot": false, "parents": [ 16801, 24270 ], "type_id": 0, "properties": { "xrefs": [ "EFO:0009538", "GARD:0018211", "MEDGEN:901636", "MedDRA:10057645", "NANDO:1200030", "NANDO:2100251", "NANDO:2200905", "OMIM:139393", "SCTID:716723000", "UMLS:C4083008" ], "synonyms": [ "AIDP", "Guillain-Barre syndrome, familial", "neuropathy, inflammatory demyelinating", "polyneuropathy, inflammatory demyelinating, acute", "GBS" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0005046", "name": "immune system disorder" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "A form of Guillain-Barre syndrome (GBS) that occurs in persons or families with a genetic predisposition to the acute or chronic forms of GBS. Note that GBS is considered to be a complex multifactorial disorder with both genetic and environmental factors, and families with clear Mendelian inheritance have been rarely reported: a mutation in the PMP22 gene (601097) on chromosome 17 was identified in a single family with the acute (AIDP) and chronic (CIDP) forms of inflammatory demyelinating polyneuropathy." }, "child_count": 0, "reference_id": "MONDO:0007691" }, { "id": 9103, "label": "Frey syndrome", "isLeaf": true, "isRoot": false, "parents": [ 3525, 24270 ], "type_id": 0, "properties": { "xrefs": [ "DOID:11599", "EFO:1000940", "GARD:0027052", "MEDGEN:21041", "MESH:D013547", "OMIM:144100", "Orphanet:662240", "SCTID:238758008", "UMLS:C0038994" ], "synonyms": [ "Baillarger syndrome", "Frey syndrome", "gustatory hyperhidrosis", "gustatory sweating", "Frey's syndrome", "HYPRG", "auriculotemporal nerve syndrome", "hyperhidrosis gustatory", "hyperhidrosis, gustatory" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "An autonomic disorder characterized by excessive sweating of the forehead, upper lip, perioral region, or sternum subsequent to gustatory stimuli. The auriculotemporal syndrome features facial flushing or sweating limited to the distribution of the auriculotemporal nerve and may develop after trauma to the parotid gland, in association with parotid neoplasms, or following their surgical removal. (From Ann Neurol 1997 Dec;42(6):973-5)" }, "child_count": 0, "reference_id": "MONDO:0007753" }, { "id": 9295, "label": "melanoma and neural system tumor syndrome", "isLeaf": true, "isRoot": false, "parents": [ 16218, 24270 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0111511", "GARD:0008468", "MEDGEN:331890", "MESH:C536149", "NCIT:C176905", "OMIM:155755", "Orphanet:252206", "SCTID:717968005", "UMLS:C1835042" ], "synonyms": [ "melanoma and neural system tumor syndrome", "melanoma-astrocytoma syndrome", "melanoma astrocytoma syndrome" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "Melanoma and neural system tumor syndrome is an extremely rare tumor association characterized by dual predisposition to melanoma and neural system tumors (typically astrocytoma)." }, "child_count": 0, "reference_id": "MONDO:0007967" }, { "id": 9385, "label": "narcolepsy 1", "isLeaf": true, "isRoot": false, "parents": [ 16757, 24270, 24279 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0015091", "MEDGEN:371809", "MESH:C563534", "NCIT:C84618", "OMIM:161400", "SCTID:46263000", "UMLS:C1834372" ], "synonyms": [ "HCRT narcolepsy", "narcolepsy 1", "narcolepsy caused by mutation in HCRT", "NRCLP1", "cataplexy", "narcoleptic syndrome 1" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "A rare disorder characterized by sudden and transient episodes of loss of muscle tone. It often follows an experience of intense emotions. It is seen in patients with narcolepsy." }, "child_count": 0, "reference_id": "MONDO:0008062" }, { "id": 9415, "label": "linear nevus sebaceous syndrome", "isLeaf": true, "isRoot": false, "parents": [ 7993, 19507, 19759, 23867, 24270 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0111530", "GARD:0010291", "MEDGEN:1646345", "NCIT:C4678", "NORD:1692", "OMIM:163200", "Orphanet:2612", "UMLS:C4552097" ], "synonyms": [ "Nevus Sebaceus Syndrome", "Nevus sebaceous of Jadassohn", "Nevus sebaceus of Jadassohn", "Nevus sebaceus syndrome", "Schimmelpenning syndrome", "Schimmelpenning-Feuerstein-Mims syndrome, somatic mosaic", "Solomon syndrome", "linear sebaceous Nevus", "organoid Nevus", "organoid nevus syndrome", "Epidermal Nevus syndrome, formerly", "JNP", "Jadassohn Nevus phakomatosis", "Jadassohn nevus phakomatosis", "SCHIMMELPENNING-FEUERSTEIN-MIMS syndrome", "SFM", "SFM syndrome", "Schimmelpenning Feuerstein Mims syndrome", "Sfm syndrome", "epidermal nevus syndrome", "linear sebaceous Nevus syndrome", "organoid Nevus phakomatosis", "organoid nevus phakomatosis", "sebaceous Nevus syndrome, linear", "sebaceous nevus syndrome linear" ], "categories": [ { "ref": "MONDO:0002022", "name": "disorder of orbital region" }, { "ref": "MONDO:0002051", "name": "integumentary system disorder" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" }, { "ref": "MONDO:0024458", "name": "disorder of visual system" } ], "definition": "Linear nevus sebaceous syndrome (LNSS) is characterized by the association of a large sebaceous nevus, usually appearing on the face or on the scalp, with a broad spectrum of abnormalities that may affect every organ system, including the central nervous system (brain neoplasms, hemimegalencephaly and lateral ventricle enlargement)." }, "child_count": 0, "reference_id": "MONDO:0008097" }, { "id": 9426, "label": "oculocerebrocutaneous syndrome", "isLeaf": true, "isRoot": false, "parents": [ 24270 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0000106", "ICD9:759.89", "MEDGEN:163214", "MESH:C538088", "NORD:1521", "OMIM:164180", "Orphanet:1647", "SCTID:403554008", "UMLS:C0796092" ], "synonyms": [ "Delleman syndrome", "Delleman-Oorthuys syndrome", "Leichtman-Wood-Rohn syndrome", "OCCS", "oculocerebrocutaneous syndrome", "orbital cyst with cerebral and focal dermal malformations", "Delleman Oorthuys syndrome", "OCC syndrome", "oculo-cerebro-cutaneous syndrome" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "Oculocerebrocutaneous syndrome (OCCS) is a rare congenital disorder associated with an intellectual disability and is typically characterized by the triad of eye, central nervous system and skin malformations." }, "child_count": 0, "reference_id": "MONDO:0008108" }, { "id": 9430, "label": "obsessive-compulsive disorder", "isLeaf": true, "isRoot": false, "parents": [ 7258, 24270 ], "type_id": 0, "properties": { "xrefs": [ "DOID:10933", "EFO:0004242", "ICD10CM:F42", "ICD10WHO:F42", "ICD9:300.3", "MEDGEN:14445", "MESH:D009771", "NCIT:C88411", "OMIM:164230", "SCTID:191736004", "UMLS:C0028768", "icd11.foundation:1582741816" ], "synonyms": [ "obsessive compulsive disorder", "obsessive-compulsive disorder", "obsessive-compulsive disorder, susceptibility to", "OCD" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "A disorder characterized by the presence of persistent and recurrent irrational thoughts (obsessions), resulting in marked anxiety and repetitive excessive behaviors (compulsions) as a way to try to decrease that anxiety." }, "child_count": 0, "reference_id": "MONDO:0008114" }, { "id": 9490, "label": "paroxysmal extreme pain disorder", "isLeaf": true, "isRoot": false, "parents": [ 24270, 24453 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0111537", "GARD:0012854", "ICD9:349.89", "MEDGEN:331565", "MESH:C563475", "NCIT:C125385", "OMIM:167400", "Orphanet:46348", "SCTID:699190008", "UMLS:C1833661", "icd11.foundation:9604457" ], "synonyms": [ "familial rectal pain", "paroxysmal extreme pain disorder", "PEPD", "Pexpd", "familial rectal syndrome", "pain, submandibular, ocular, and rectal, with flushing", "rectal pain, familial", "submandibular, ocular, and rectal pain with flushing" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "Paroxysmal extreme pain disorder is a rare disorder of abnormal pain sensation." }, "child_count": 0, "reference_id": "MONDO:0008179" }, { "id": 9641, "label": "familial pterygium of the conjunctiva", "isLeaf": true, "isRoot": false, "parents": [ 6813, 24270 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0004569", "MEDGEN:896736", "MESH:C566740", "OMIM:178000", "Orphanet:2989", "UMLS:C4274782" ], "synonyms": [ "pterygium of conjunctiva and cornea", "pterygium of the conjunctiva and cornea" ], "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": "Familial pterygium of the conjunctiva is a rare form of pterygium, which develops in early adulthood, characterized by a wing-like bulbar thickening of the conjunctiva in the interpalpebral fissure area that can be cured by surgical excision." }, "child_count": 0, "reference_id": "MONDO:0008337" }, { "id": 9674, "label": "retinal detachment", "isLeaf": false, "isRoot": false, "parents": [ 6979, 24270 ], "type_id": 0, "properties": { "xrefs": [ "DOID:5327", "EFO:0005773", "ICD9:361.89", "ICD9:361.9", "ICD9:362.40", "MEDGEN:19759", "MESH:D012163", "NCIT:C26874", "OMIM:180050", "OMIM:312530", "SCTID:42059000", "UMLS:C0035305" ], "synonyms": [ "detached retina", "retina, detached", "retinal detachment" ], "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": "An eye emergency condition which may lead to blindness if left untreated. It is characterized by the separation of the inner retina layers from the underlying pigment epithelium. Causes include trauma, advanced diabetes mellitus, high myopia, and choroid tumors. Symptoms include sudden appearance of floaters, sudden light flushes, and blurred vision." }, "child_count": 4, "reference_id": "MONDO:0008375" }, { "id": 9792, "label": "Sturge-Weber syndrome", "isLeaf": true, "isRoot": false, "parents": [ 7019, 23107, 24270 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0111563", "GARD:0007706", "ICD9:759.6", "MEDGEN:21361", "MESH:D013341", "MedDRA:10042265", "MedDRA:10057653", "NANDO:1200606", "NANDO:2200830", "NCIT:C3391", "NORD:1741", "OMIM:185300", "Orphanet:3205", "SCTID:19886006", "UMLS:C0038505", "icd11.foundation:1173035836" ], "synonyms": [ "SWS", "Sturge Weber Syndrome", "Sturge Weber syndrome", "Sturge-Weber disease", "Sturge-Weber syndrome", "Sturge-Weber syndrome, somatic, mosaic", "Sturge-Weber-Dimitri syndrome", "Sturge-Weber-Krabbe angiomatosis", "Sturge-Weber-Krabbe syndrome", "encephalofacial angiomatosis", "encephalotrigeminal angiomatosis", "encephalotrigeminal syndrome", "SWS type I - Facial and leptomeningeal angiomas", "SWS type II - Facial angioma alone, no CNS involvement", "SWS type III - isolated leptomeningeal angiomas", "fourth phacomatosis", "leptomeningeal angiomatosis", "meningeal capillary angiomatosis" ], "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": "Sturge-Weber syndrome (SWS) is a rare congenital neurocutaneous disorder characterized by facial capillary malformations and/or cerebral and ocular ipsilateral vascular malformations that result in variable degrees of ocular and neurological anomalies." }, "child_count": 0, "reference_id": "MONDO:0008501" }, { "id": 9851, "label": "DiGeorge syndrome", "isLeaf": true, "isRoot": false, "parents": [ 3462, 18847, 20691, 24270, 24272 ], "type_id": 0, "properties": { "xrefs": [ "DOID:11198", "GARD:0015118", "GTR:AN1145678", "ICD10CM:D82.1", "ICD9:279.11", "MEDGEN:4297", "MESH:D004062", "NANDO:1200339", "NANDO:1200688", "NANDO:2200712", "NCIT:C2989", "OMIM:188400", "SCTID:77128003", "UMLS:C0012236" ], "synonyms": [ "22q deletion syndrome(s)", "22q11.2 deletion syndrome", "DGS", "DGS1", "Di-George syndrome", "DiGeorge anomaly", "DiGeorge syndrome", "DiGeorge syndrome type 1", "DiGeorge's syndrome", "pharyngeal pouch syndrome", "Shprintzen syndrome", "Sphrintzen", "Catch22", "DiGeorge syndrome chromosome region", "Takao VCF syndrome", "VCF", "chromosome 22Q11.2 deletion syndrome", "hypoplasia of thymus and parathyroids", "third and fourth pharyngeal pouch syndrome", "velo-cardio-facial syndrome", "velocardiofacial syndrome" ], "categories": [ { "ref": "MONDO:0004995", "name": "cardiovascular disorder" }, { "ref": "MONDO:0005046", "name": "immune system disorder" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "A congenital anomaly characterized by immunodeficiency, abnormal facies, congenital heart disease, hypocalcemia, and increased susceptibility to infections. Pathologic characteristics include conotruncal abnormalities and absence or hypoplasia of thymus and parathyroid glands. DiGeorge syndrome is associated with abnormalities of chromosome 22. Also known as DiGeorge anomaly." }, "child_count": 0, "reference_id": "MONDO:0008564" }, { "id": 9895, "label": "blue color blindness", "isLeaf": true, "isRoot": false, "parents": [ 3891, 24270 ], "type_id": 0, "properties": { "xrefs": [ "DOID:11661", "GARD:0016768", "ICD9:368.53", "MEDGEN:57827", "OMIM:190900", "Orphanet:88629", "SCTID:51886007", "UMLS:C0155017" ], "synonyms": [ "congenital tritanopia", "tritan color blindness", "tritan colour blindness", "tritan defect", "tritanopia", "blue colorblindness", "colorblindness, tritan", "colorblindness, tritanopic" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" }, { "ref": "MONDO:0024458", "name": "disorder of visual system" } ], "definition": "Tritanopia is an extremely rare form of color blindness characterized by a selective deficiency of blue vision." }, "child_count": 0, "reference_id": "MONDO:0008610" }, { "id": 9926, "label": "velocardiofacial syndrome", "isLeaf": true, "isRoot": false, "parents": [ 18847, 24270, 24272 ], "type_id": 0, "properties": { "xrefs": [ "DOID:12583", "GARD:0015123", "ICD9:758.32", "MEDGEN:65085", "NANDO:1200339", "NANDO:1200688", "NANDO:2200712", "OMIM:192430", "UMLS:C0220704" ], "synonyms": [ "22q11 deletion syndrome", "Shprintzen VCF syndrome", "VCF syndrome", "deletion 22q11.2 syndrome", "velocardiofacial syndrome", "Shprintzen syndrome", "chromosome 22Q11.2 deletion syndrome" ], "categories": [ { "ref": "MONDO:0004995", "name": "cardiovascular disorder" }, { "ref": "MONDO:0005046", "name": "immune system disorder" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "A chromosomal disease that has material basis in deletion polymorphisms at chromosome location 22q11 and is characterized by variable developmental problems and schizoid features." }, "child_count": 0, "reference_id": "MONDO:0008644" }, { "id": 9944, "label": "von Hippel-Lindau disease", "isLeaf": true, "isRoot": false, "parents": [ 2903, 23107, 24270 ], "type_id": 0, "properties": { "xrefs": [ "DOID:14175", "GARD:0007855", "ICD9:759.6", "MEDGEN:42458", "MESH:D006623", "MedDRA:10047716", "NANDO:2200408", "NANDO:2200829", "NCIT:C3105", "NORD:1830", "OMIM:193300", "Orphanet:892", "SCTID:46659004", "UMLS:C0019562", "icd11.foundation:1985408165" ], "synonyms": [ "Lindau disease", "VHL", "VHL-related von Hippel-Lindau disease", "Von Hippel-Lindau syndrome", "Von Hippel-Lindau syndrome (VHL)", "cerebroretinal angiomatosis", "familial cerebelloretinal angiomatosis", "von Hippel-Lindau disease", "von Hippel-Lindau syndrome", "von Hippel-Lindau syndrome, modifier of", "VHL syndrome", "Von Hippel Lindau disease", "Von Hippel-Lindau syndrome, Modifiers of" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "An autosomal dominant disorder caused by pathogenic variants in the VHL gene, leading to an increased risk of various benign and malignant tumors, including hemangioblastomas, retinal hemangiomas, endolymphatic sac tumors, renal cell carcinoma, and pheochromocytomas." }, "child_count": 0, "reference_id": "MONDO:0008667" }, { "id": 10051, "label": "arthrogryposis", "isLeaf": false, "isRoot": false, "parents": [ 7073, 24270 ], "type_id": 0, "properties": { "xrefs": [ "EFO:0003857", "MEDGEN:2455", "MESH:D001176", "NCIT:C84572", "UMLS:C0003886" ], "synonyms": [ "Arthrogryposes, congenital multiple", "congenital multiple Arthrogryposes", "congenital multiple arthrogryposis" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "A rare, non-progressive congenital disorder characterized by multiple joint contractures which are present at birth." }, "child_count": 10, "reference_id": "MONDO:0008779" }, { "id": 10084, "label": "Chiari malformation type II", "isLeaf": true, "isRoot": false, "parents": [ 2730, 17449, 24270 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0009232", "MEDGEN:108222", "MedDRA:10056945", "OMIM:207950", "Orphanet:1136", "SCTID:373587001", "UMLS:C0555206" ], "synonyms": [ "Arnold-Chiari malformation type 2", "Arnold-Chiari malformation type II", "Chiari malformation type 2", "Chiari malformation type II", "Arnold Chiari malformation type II", "Arnold-Chiari malformation", "Chiari type II malformation", "Cm2" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "Arnold-Chiari malformation type II is a rare, central nervous system malformation characterized by caudal displacement of the cerebellum, pons, medulla and fourth ventricle through the foramen magnum into the spinal canal, and is typically associated with myelomeningocele. Variable other central nervous system abnormalities might be present (partial or complete agenesis of the corpus callosum, a small fourth ventricle, obstructive hydrocephalus, falx and tentorium defects, and polygyria). Symptoms include hypotonia, apnea with cyanosis, dysphagia, opisthotonus, nystagmus, spasticity, ataxia, and occipital headache." }, "child_count": 0, "reference_id": "MONDO:0008816" }, { "id": 10123, "label": "Behr syndrome", "isLeaf": true, "isRoot": false, "parents": [ 7611, 24270, 24873 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0111580", "GARD:0000849", "MEDGEN:66358", "MESH:C537669", "NCIT:C177251", "OMIM:210000", "Orphanet:1239", "SCTID:718221007", "UMLS:C0221061" ], "synonyms": [ "Behr syndrome", "BEHRS", "optic atrophy in early childhood, associated with ataxia, spasticity, intellectual disability, and posterior column sensory loss", "optic atrophy in early childhood, associated with ataxia, spasticity, mental retardation, and posterior column sensory loss", "optic atrophy, infantile hereditary, Behr complicated form of", "optic atrophy, infantile hereditary, with neurologic abnormalities" ], "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": "A disorder characterized by early-onset optic atrophy along with neurological features, including ataxia, spasticity, and intellectual disability. Other signs and symptoms may be present and vary from person to person. This condition is caused by mutations in the OPA1 gene. It is inherited in an autosomal recessive manner. Treatment depends on the specific signs and symptoms seen in the patient." }, "child_count": 0, "reference_id": "MONDO:0008858" }, { "id": 10201, "label": "isolated cerebellar hypoplasia/agenesis", "isLeaf": true, "isRoot": false, "parents": [ 4427, 20383, 24270 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0070338", "GARD:0018720", "MEDGEN:1695950", "MESH:C562568", "MedDRA:10008033", "NCIT:C98890", "NORD:910", "OMIM:213000", "Orphanet:1398", "SCTID:16026008", "UMLS:C5231391" ], "synonyms": [ "Cerebellar Agenesis", "Chiari 4 malformation", "Chiari IV malformation", "cerebellar hypoplasia/atrophy, epilepsy, and global developmental delay", "congenital cerebellar Hypoplasia", "near total absence of cerebellum", "subtotal absence of cerebellum", "cerebellar hypoplasia", "isolated cerebellar agenesis" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "Hypoplasia of the cerebellum that is associated with inherited metabolic disorders and neurodegenerative disorders. Signs and symptoms include mental and developmental delays, walking and balance difficulties, floppy muscle tone, and seizures." }, "child_count": 0, "reference_id": "MONDO:0008939" }, { "id": 10207, "label": "bilateral striopallidodentate calcinosis", "isLeaf": false, "isRoot": false, "parents": [ 5849, 24270 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0060230", "GARD:0006406", "HP:0002135", "ICD9:333.0", "ICD9:348.89", "MESH:C536275", "MedDRA:10059626", "NANDO:1200207", "NORD:1127", "OMIMPS:213600", "Orphanet:1980", "SCTID:110997000", "SCTID:230311004", "icd11.foundation:1081370436" ], "synonyms": [ "BSPDC", "PFBC", "Primary Familial Brain Calcification", "basal ganglia calcification", "basal ganglia degeneration with calcification", "cerebrovascular ferrocalcinosis", "primary familial brain calcification", "Fahr disease", "idiopathic basal ganglia calcification", "basal ganglia calcification, idiopathic" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "A basal ganglia disease characterized by the accumulation of calcium deposits in different brain regions, particularly the basal ganglia and dentate nucleus, and is often associated with neurodegeneration." }, "child_count": 20, "reference_id": "MONDO:0008947" }, { "id": 10220, "label": "Griscelli syndrome type 1", "isLeaf": true, "isRoot": false, "parents": [ 18403, 24270 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0060832", "GARD:0002566", "MEDGEN:347092", "MESH:C537301", "OMIM:214450", "Orphanet:79476", "UMLS:C1859194", "icd11.foundation:875700770" ], "synonyms": [ "GS1", "Griscelli syndrome type 1", "Griscelli-PruniC)ras syndrome type 1", "Griscelli-Pruniéras syndrome type 1", "hypopigmentation-neurologic impairment syndrome", "Griscelli disease type 1", "Griscelli syndrome with neurologic impairment", "Griscelli syndrome, cutaneous and neurologic type", "Griscelli syndrome, type 1", "partial albinism and primary neurologic disease without hemophagocytic syndrome", "pigmentary dilution of the skin and hair, the presence of large clumps of pigment in hair shafts" ], "categories": [ { "ref": "MONDO:0002051", "name": "integumentary system disorder" }, { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "A Griscelli syndrome characterized by silvery gray sheen of the hair, hypopigmentation of the skin and neurological impairment without immunodeficiency that has material basis in mutations in the MYO5A gene on chromosome 15q21.2." }, "child_count": 0, "reference_id": "MONDO:0008962" }, { "id": 10265, "label": "multiple pterygium-malignant hyperthermia syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4427, 16094, 24270 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0003361", "MEDGEN:347490", "MESH:C565679", "OMIM:217150", "Orphanet:2215", "UMLS:C1857576" ], "synonyms": [ "froster-Iskenius-Waterson-Hall syndrome", "malignant hyperthermia-arthrogryposis-torticollis syndrome", "contractures, congenital, torticollis, and malignant hyperthermia", "froster-Iskenius-Waterson syndrome", "malignant hyperthermia - arthrogryposis - torticollis", "malignant hyperthermia arthrogryposis torticollis" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "Malignant hyperthermia-arthrogryposis-torticollisis an extremely rare arthrogryposis syndrome, described in only two pairs of siblings from two unrelated families to date, and characterized by the association of arthrogryposis, congenital torticollis, dysmorphic facial features (i.e. asymmetry of the face, myopathic facial movements, ptosis, posteriorly rotated ears, cleft palate), progressive scoliosis and episodes of malignant hyperthermia. There have been no further descriptions in the literature since 1988." }, "child_count": 0, "reference_id": "MONDO:0009012" }, { "id": 10275, "label": "corpus callosum, agenesis of", "isLeaf": false, "isRoot": false, "parents": [ 4427, 24270 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0027261", "MEDGEN:104498", "MESH:D061085", "NCIT:C98905", "OMIM:217990", "Orphanet:200", "SCTID:5102002", "UMLS:C0175754" ], "synonyms": [ "agenesis of corpus callosum", "corpus callosum agenesis", "corpus callosum, agenesis of", "ACC", "agenesis of the corpus callosum", "isolated corpus callosum agenesis" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "A congenital abnormality characterized by the complete absence of the corpus callosum. It may be an isolated abnormality or associated with other central nervous system abnormalities or syndromes. Clinical manifestations vary. In cases of isolated corpus callosum agenesis, symptoms may be absent or minimal. In cases that are associated with other central nervous system abnormalities or syndromes, symptoms include developmental delays, motor coordination difficulties, and vision impairment." }, "child_count": 4, "reference_id": "MONDO:0009022" }, { "id": 10375, "label": "Riley-Day syndrome", "isLeaf": true, "isRoot": false, "parents": [ 20691, 24270 ], "type_id": 0, "properties": { "xrefs": [ "DOID:11589", "GARD:0007581", "ICD10CM:G90.1", "MEDGEN:41678", "MESH:D004402", "MedDRA:10039179", "NCIT:C84706", "NORD:1069", "OMIM:223900", "Orphanet:1764", "SCTID:29159009", "UMLS:C0013364", "icd11.foundation:831377479" ], "synonyms": [ "Dysautonomia, Familial", "HSAN 3", "HSAN III", "HSAN3", "HSN 3", "Riley Day syndrome", "Riley-Day syndrome", "familial dysautonomia", "hereditary sensory and autonomic neuropathy 3", "hereditary sensory and autonomic neuropathy type 3", "hereditary sensory and autonomic neuropathy type III", "hereditary sensory neuropathy type 3", "neuropathy, hereditary sensory and autonomic, type 3", "neuropathy, hereditary sensory and autonomic, type III", "dysautonomia, familial", "familial autonomic nervous dysfunction" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "A congenital disorder caused by mutations in the IKBKAP gene. It is characterized by damage of the sympathetic and parasympathetic and sensory nervous system." }, "child_count": 0, "reference_id": "MONDO:0009131" }, { "id": 10521, "label": "glutaryl-CoA dehydrogenase deficiency", "isLeaf": true, "isRoot": false, "parents": [ 2735, 3084, 24270 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0111254", "GARD:0006522", "MEDGEN:124337", "MESH:C536833", "NANDO:1200800", "NANDO:2200501", "NCIT:C99101", "OMIM:231670", "Orphanet:25", "SCTID:76175005", "UMLS:C0268595" ], "synonyms": [ "GA1", "GCDHD", "glutaric acidemia type 1", "glutaric aciduria type 1", "glutaric aciduria, type 1", "glutaricaciduria, type I", "glutaryl-CoA dehydrogenase deficiency", "glutaryl-coenzyme A dehydrogenase deficiency", "Ga 1", "glutaric acidemia 1", "glutaric acidemia I", "glutaric acidemia type I", "glutaric acidemia, type 1", "glutaric aciduria 1", "glutaric aciduria type I" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "Glutaryl-CoA dehydrogenase (GCDH) deficiency (GDD) is an autosomal recessive neurometabolic disorder clinically characterized by encephalopathic crises resulting in striatal injury and a severe dystonic dyskinetic movement disorder." }, "child_count": 0, "reference_id": "MONDO:0009281" }, { "id": 10598, "label": "normal pressure hydrocephalus", "isLeaf": true, "isRoot": false, "parents": [ 4192, 24270 ], "type_id": 0, "properties": { "xrefs": [ "DOID:1572", "EFO:1001065", "ICD9:331.5", "MEDGEN:42526", "MESH:D006850", "MedDRA:10029773", "OMIM:236690", "Orphanet:314928", "SCTID:30753002", "UMLS:C0020258" ], "synonyms": [ "NPH", "chronic adult hydrocephalus", "hydrocephalus, normal pressure, 1", "hydrocephalus, normal-pressure" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "A form of compensated hydrocephalus characterized clinically by a slowly progressive gait disorder (see gait disorders, neurologic), progressive intellectual decline, and urinary incontinence. Spinal fluid pressure tends to be in the high normal range. This condition may result from processes which interfere with the absorption of csf including subarachnoid hemorrhage, chronic meningitis, and other conditions. (From Adams et al., Principles of Neurology, 6th ed, pp631-3)" }, "child_count": 0, "reference_id": "MONDO:0009366" }, { "id": 10618, "label": "hyperlexia", "isLeaf": true, "isRoot": false, "parents": [ 3885, 24270 ], "type_id": 0, "properties": { "xrefs": [ "MEDGEN:341011", "MESH:C565500", "OMIM:238350", "UMLS:C1855928" ], "synonyms": [ "hyperlexia", "compulsive reading", "precocious reading" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ] }, "child_count": 0, "reference_id": "MONDO:0009386" }, { "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": 10766, "label": "macrocephaly/megalencephaly syndrome, autosomal recessive", "isLeaf": true, "isRoot": false, "parents": [ 17092, 24270 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0024680", "MEDGEN:812742", "MESH:C537453", "OMIM:248000", "UMLS:C3806412" ], "synonyms": [ "macrocephaly/megalencephaly syndrome, autosomal recessive", "Fryns Dereymaeker Haegeman syndrome", "MGCPH", "intellectual disability, macrocephaly, short stature and craniofacial dysmorphism", "mental retardation, macrocephaly, short stature and craniofacial dysmorphism" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ] }, "child_count": 0, "reference_id": "MONDO:0009544" }, { "id": 10799, "label": "neurocutaneous melanocytosis", "isLeaf": true, "isRoot": false, "parents": [ 3049, 6801, 23107, 23867, 24270 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0007186", "MEDGEN:154259", "MESH:C537387", "NANDO:2200827", "NCIT:C175215", "OMIM:249400", "Orphanet:2481", "UMLS:C0544862", "icd11.foundation:403221860" ], "synonyms": [ "NCM", "neurocutaneous melanosis", "neurocutaneous melanosis, somatic", "NCMS", "Neuromelanosis", "melanosis, neurocutaneous", "neurocutaneous melanosis syndrome" ], "categories": [ { "ref": "MONDO:0002051", "name": "integumentary system disorder" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "Neurocutaneous melanocytosis (NCM) is a rare congenital neurological disorder characterized by abnormal aggregations of nevomelanocytes within the central nervous system (leptomeningeal melanocytosis) associated with large or giant congenital melanocytic nevi (CMN). NCM can be asymptomatic or present as variably severe and progressive neurological impairment, sometimes resulting in death." }, "child_count": 0, "reference_id": "MONDO:0009578" }, { "id": 10927, "label": "myosclerosis", "isLeaf": true, "isRoot": false, "parents": [ 23966, 24270, 24618 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0027790", "MEDGEN:338098", "MESH:C564968", "MedDRA:10064584", "OMIM:255600", "Orphanet:289380", "SCTID:763895001", "UMLS:C1850671", "icd11.foundation:2105106550" ], "synonyms": [ "congenital myosclerosis, LC6wenthal type", "congenital myosclerosis, Löwenthal type", "myosclerosis, congenital", "myopathy, myosclerotic", "myosclerosis, autosomal recessive", "myosclerosis, congenital, of Lowenthal" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "Myosclerosis is a rare, genetic, non-dystrophic myopathy characterized by early, diffuse, progressive muscle and joint contractures that result in severe limitation of movement of axial, proximal, and distal joints, walking difficulties in early childhood and toe walking. Patients typically present thin, sclerotic muscles with a woody consistency, mild girdle and proximal limb weakness with moderate distal weakness and scoliosis. Muscle biopsy shows partial collagen VI deficiency at the myofiber basement membrane and absent collagen VI around most endomysial/perimysial capillaries." }, "child_count": 0, "reference_id": "MONDO:0009714" }, { "id": 10935, "label": "Bailey-Bloch congenital myopathy", "isLeaf": true, "isRoot": false, "parents": [ 4427, 19669, 24270 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0060346", "GARD:0008432", "MEDGEN:340586", "MESH:C538343", "OMIM:255995", "Orphanet:168572", "SCTID:723439002", "UMLS:C1850625" ], "synonyms": [ "Bailey-Bloch congenital myopathy", "Native American myopathy", "STAC3 disorder", "congenital myopathy-cleft palate-malignant hyperthermia syndrome", "myopathy, congenital, baily-bloch", "NAM", "congenital myopathy - cleft palate - malignant hyperthermia", "congenital myopathy cleft palate and malignant hyperthermia", "myopathy, congenital, with cleft palate and malignant hyperthermia" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "Bailey-Bloch congenital myopathy is a neuromuscular disorder characterized by weakness, arthrogryposis, kyphoscoliosis, short stature, cleft palate, ptosis and susceptibility to malignant hyperthermia during anesthesia." }, "child_count": 0, "reference_id": "MONDO:0009722" }, { "id": 11040, "label": "choroid plexus papilloma", "isLeaf": true, "isRoot": false, "parents": [ 4462, 23428, 24270 ], "type_id": 0, "properties": { "xrefs": [ "DOID:2626", "GARD:0004214", "ICDO:9390/0", "MEDGEN:64439", "MESH:D020288", "MedDRA:10008777", "NANDO:2200093", "NCIT:C3698", "OMIM:260500", "ONCOTREE:CPP", "Orphanet:2807", "SCTID:425868004", "UMLS:C0205770", "icd11.foundation:1696749652" ], "synonyms": [ "choroid plexus papilloma", "choroid plexus papilloma, no ICD-O subtype", "papilloma of the choroid plexus", "childhood choroid plexus papilloma", "childhood papilloma of choroid plexus", "choroid plexus papilloma NOS (morphologic abnormality)", "paediatric papilloma of choroid plexus", "pediatric papilloma of choroid plexus", "CPP", "choroid plexus carcinoma", "papilloma of choroid plexus", "papilloma, choroid plexus, benign" ], "categories": [ { "ref": "MONDO:0004995", "name": "cardiovascular disorder" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "Papilloma of the choroid plexus is a rare benign type of choroid plexus tumor, accounting for 1% of all brain tumors, often occurring in the fourth ventricle (in adults) and the lateral ventricle (in children) but sometimes arising ectopically in the brain parenchyma, and presenting with nausea, vomiting, papilledema, abnormal eye movements, as well as enlarged head circumference, seizures and gait impairment due to an increase in intracranial pressure." }, "child_count": 0, "reference_id": "MONDO:0009837" }, { "id": 11146, "label": "pyridoxine-dependent epilepsy", "isLeaf": false, "isRoot": false, "parents": [ 19101, 23787, 24270 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0080768", "GARD:0009298", "MEDGEN:340341", "MESH:C536254", "NORD:1639", "Orphanet:3006", "SCTID:734434007", "UMLS:C1849508" ], "synonyms": [ "antiquitin deficiency", "pyridoxine-dependent epilepsy", "vitamin B6-dependent seizures", "AASA dehydrogenase deficiency", "EPD", "Epd", "epilepsy, pyridoxine-dependent", "pyridoxine dependency", "pyridoxine dependency with seizures" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "A rare neurometabolic disease characterized by recurrent intractable seizures in the prenatal, neonatal and postnatal period that are resistant to anti-epileptic drugs (AEDs) but that are responsive to pharmacological dosages of pyridoxine (vitamin B6)." }, "child_count": 6, "reference_id": "MONDO:0009945" }, { "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": 11175, "label": "familial hemophagocytic lymphohistiocytosis type 1", "isLeaf": true, "isRoot": false, "parents": [ 16355, 24270 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0110921", "GARD:0006590", "MEDGEN:1642840", "MedDRA:10070904", "NCIT:C61276", "OMIM:267700", "UMLS:C4551514" ], "synonyms": [ "familial hemophagocytic lymphohistiocytosis", "FHL1", "HLH1", "HPLH1", "familial HLH", "familial hemophagocytic lymphohistiocytosis type 1", "Erythrophagocytic lymphohistiocytosis, familial", "Hlh1", "Hplh1", "familial hemophagocytic lymphohistiocytosis 1", "hemophagocytic lymphohistiocytosis, familial", "hemophagocytic lymphohistiocytosis, familial, 1", "hemophagocytic reticulosis, familial", "reticulosis, familial histiocytic" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0005046", "name": "immune system disorder" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "Familial Hemophagocytic lymphohistiocytosis (FHL) is a rare primary immunodeficiency characterized by a macrophage activation syndrome with an onset usually occurring within a few months or less common several years after birth." }, "child_count": 0, "reference_id": "MONDO:0009974" }, { "id": 11341, "label": "mismatch repair cancer syndrome 1", "isLeaf": true, "isRoot": false, "parents": [ 16218, 22228, 24270 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0000420", "MEDGEN:1748029", "MESH:C536928", "NORD:1805", "OMIM:276300", "SCTID:61665008", "UMLS:C5399763" ], "synonyms": [ "BTP1 syndrome", "MLH1-related constitutional mismatch repair deficiency syndrome", "MMRCS1", "Turcot Syndrome", "brain tumor-polyposis syndrome 1", "mismatch repair cancer syndrome 1", "CNS tumors with familial polyposis of the colon", "CNS tumours with familial polyposis of the colon", "MMR deficiency", "MMRCS", "Turcot syndrome", "brain tumor-polyposis syndrome", "childhood cancer syndrome", "glioma-polyposis syndrome", "malignant tumors of the central nervous system associated with familial polyposis of the colon", "malignant tumours of the central nervous system associated with familial polyposis of the colon", "mismatch repair cancer syndrome", "mismatch repair deficiency" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "An autosomal recessive constitutional mismatch repair deficiency syndrome caused by pathogenic variants in the MLH1 mismatch repair gene. It is characterized by a high risk of childhood cancers, including hematological malignancies and brain tumors, as well as colorectal cancers with polyposis." }, "child_count": 0, "reference_id": "MONDO:0010159" }, { "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": 11419, "label": "X-linked immunoneurologic disorder", "isLeaf": true, "isRoot": false, "parents": [ 2902, 5658, 24270 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0000274", "MEDGEN:341162", "MESH:C536743", "OMIM:300076", "Orphanet:2571", "SCTID:719827008", "UMLS:C1848144", "icd11.foundation:1464555617" ], "synonyms": [ "Woods Black Norbury syndrome", "Woods-Black-Norbury syndrome", "Woods-Black-Norbury syndrome, X-linked dominant", "X-linked immunoneurological disorder", "immunoneurologic disorder, X-linked", "neonatal death immune deficiency" ], "categories": [ { "ref": "MONDO:0005046", "name": "immune system disorder" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "X-linked immunoneurologic disorder is characterized by immune deficiency and neurological disorders in females, and by neonatal death in males." }, "child_count": 0, "reference_id": "MONDO:0010243" }, { "id": 11497, "label": "HSD10 mitochondrial disease", "isLeaf": false, "isRoot": false, "parents": [ 5908, 24270 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0060810", "GARD:0010716", "MEDGEN:781653", "MESH:C536080", "MESH:C564560", "OMIM:300220", "OMIM:300438", "Orphanet:391417", "SCTID:791000124107", "UMLS:C3266731" ], "synonyms": [ "17-beta-hydroxysteroid dehydrogenase 10 deficiency", "17-beta-hydroxysteroid dehydrogenase X deficiency", "2-methyl-3-hydroxybutyric aciduria", "2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency", "3-hydroxyacyl-CoA dehydrogenase 2 deficiency", "HSD10 deficiency", "HSD10 mitochondrial disease", "HSD10 mitochondrial disease, X-linked dominant", "HSD10MD", "HSD17B10 deficiency", "MHBD deficiency", "MRXS10", "chorioathetosis with mental retardation and abnormal behavior", "chorioathetosis with mental retardation and abnormal behaviour", "mental retardation with chorioathetosis and abnormal behavior", "mental retardation with chorioathetosis and abnormal behaviour", "mental retardation, X-linked, syndromic 10", "mental retardation, X-linked, syndromic type 10", "HSD10 deficiency, atypical type", "X-linked intellectual disability-choreoathetosis-abnormal behavior syndrome", "X-linked intellectual disability-choreoathetosis-abnormal behaviour syndrome", "syndromic X-linked intellectual disability type 10", "17 beta-hydroxysteroid dehydrogenase type 10 deficiency", "2M3HBA", "3-hydroxy-2-methylbutyryl-CoA dehydrogenase deficiency", "3H2MBD deficiency", "hydroxyacyl-CoA dehydrogenase II deficiency" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "A rare, life-threatening neurometabolic disease characterized by a progressive neurodegenerative course, epilepsy, retinopathy and progressive cardiomyopathy." }, "child_count": 6, "reference_id": "MONDO:0010327" }, { "id": 11550, "label": "rolandic epilepsy, intellectual disability, and speech dyspraxia, X-linked", "isLeaf": true, "isRoot": false, "parents": [ 16387, 24270 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0018282", "MEDGEN:337150", "MESH:C564467", "OMIM:300643", "UMLS:C1845070" ], "synonyms": [ "rolandic epilepsy, impaired intellectual development, and speech dyspraxia", "rolandic epilepsy, intellectual disability, and speech dyspraxia, X-linked", "rolandic epilepsy, mental retardation, and speech dyspraxia, X-linked", "RESDX", "ROLANDIC epilepsy, intellectual disability, and speech dyspraxia, X-linked", "ROLANDIC epilepsy, mental retardation, and speech dyspraxia, X-linked" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ] }, "child_count": 0, "reference_id": "MONDO:0010388" }, { "id": 11558, "label": "severe neonatal-onset encephalopathy with microcephaly", "isLeaf": true, "isRoot": false, "parents": [ 16437, 19723, 23939, 24270 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0111932", "GARD:0017103", "MEDGEN:409616", "MESH:C566878", "NCIT:C132293", "OMIM:300673", "Orphanet:209370", "UMLS:C1968556", "icd11.foundation:240602582" ], "synonyms": [ "encephalopathy, neonatal severe, X-linked recessive", "severe congenital encephalopathy due to MECP2 mutation", "severe neonatal encephalopathy due to MECP2 mutations", "encephalopathy, neonatal severe, due to MECP2 mutations" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "An X-linked recessive condition caused by mutation(s) in the MECP2 gene, encoding methyl-CpG-binding protein 2. It is characterized by severe neonatal encephalopathy." }, "child_count": 0, "reference_id": "MONDO:0010397" }, { "id": 11697, "label": "dilated cardiomyopathy 3B", "isLeaf": true, "isRoot": false, "parents": [ 16752, 24270, 24709 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0060561", "DOID:0081164", "DOID:0110461", "GARD:0015287", "ICD9:425.4", "MEDGEN:777148", "MESH:C580047", "OMIM:302045", "SCTID:702424003", "UMLS:C3668940" ], "synonyms": [ "CMD3B", "DMD dilated cardiomyopathy", "cardiomyopathy, dilated, type 3B", "dilated cardiomyopathy 3B", "dilated cardiomyopathy caused by mutation in DMD", "dilated cardiomyopathy type 3B", "DMD-related dilated cardiomyopathy", "X-linked dilated cardiomyopathy", "cardiomyopathy, dilated, 3B", "cardiomyopathy, dilated, X-linked" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0004995", "name": "cardiovascular disorder" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "Any dilated cardiomyopathy in which the cause of the disease is a mutation in the DMD gene." }, "child_count": 0, "reference_id": "MONDO:0010542" }, { "id": 11718, "label": "red-green color blindness", "isLeaf": true, "isRoot": false, "parents": [ 2703, 24270 ], "type_id": 0, "properties": { "xrefs": [ "DOID:13909", "EFO:0005581", "GARD:0027795", "ICD10CM:H53.53", "ICD9:368.52", "MEDGEN:102324", "OMIM:303800", "Orphanet:319698", "SCTID:77479002", "UMLS:C0155016" ], "synonyms": [ "Deutan defect", "colorblindness, deutan", "deuteranopia", "partial achromatopsia, deutan type", "CBD", "Deutan colorblindness", "Deuteranomaly", "Green colorblindness", "colorblindness, partial, DEUTAN series" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" }, { "ref": "MONDO:0024458", "name": "disorder of visual system" } ], "definition": "Deuteranopia is a type of color vision deficiency where the green photoreceptors are absent. It affects hue discrimination in the same way as protanopia, but without the dimming effect. Like protanopia, it is hereditary, sex-linked, and found in about 1% of the male population." }, "child_count": 0, "reference_id": "MONDO:0010564" }, { "id": 11719, "label": "red color blindness", "isLeaf": true, "isRoot": false, "parents": [ 3891, 7019, 24270 ], "type_id": 0, "properties": { "xrefs": [ "DOID:13910", "EFO:0005580", "ICD10CM:H53.54", "ICD9:368.51", "MEDGEN:56350", "OMIM:303900", "Orphanet:319691", "SCTID:51445007", "UMLS:C0155015" ], "synonyms": [ "colorblindness, protan", "partial achromatopsia, protan type", "protan defect", "protanopia", "red color blindness", "CBP", "colorblindness, partial, protan series", "protanomaly", "red colorblindness" ], "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": "Protanopia is a severe type of color vision deficiency caused by the complete absence of red retinal photoreceptors. Protans have difficulties distinguishing between blue and green colors and also between red and green colors. It is a form of dichromatism in which the subject can only perceive light wavelengths from 400 to 650 nm, instead of the usual 700 nm. Pure reds cannot be seen, instead appearing black; purple colors cannot be distinguished from blues; more orange-tinted reds may appear as very dim yellows, and all orange-yellow-green shades of too long a wavelength to stimulate the blue receptors appear as a similar yellow hue. It is hereditary, sex-linked, and present in 1% of males." }, "child_count": 0, "reference_id": "MONDO:0010565" }, { "id": 11779, "label": "iris hypoplasia with glaucoma", "isLeaf": true, "isRoot": false, "parents": [ 6979, 18318, 24270 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0009171", "MEDGEN:326993", "MESH:C535538", "OMIM:308500", "UMLS:C1839928" ], "synonyms": [ "iris hypoplasia with glaucoma", "IHG", "iris hypoplasia and glaucoma" ], "categories": [ { "ref": "MONDO:0002022", "name": "disorder of orbital region" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" }, { "ref": "MONDO:0024458", "name": "disorder of visual system" } ] }, "child_count": 0, "reference_id": "MONDO:0010633" }, { "id": 11794, "label": "major affective disorder 2", "isLeaf": true, "isRoot": false, "parents": [ 3086, 24270 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0080221", "MEDGEN:326975", "MESH:C564108", "OMIM:309200", "UMLS:C1839839" ], "synonyms": [ "MAFD2", "major affective disorder 2", "major affective disorder 2, X-linked dominant", "MAJOR affective disorder 2", "bipolar affective disorder", "manic-depressive illness", "manic-depressive psychosis, X-linked" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ] }, "child_count": 0, "reference_id": "MONDO:0010648" }, { "id": 12007, "label": "band heterotopia of brain", "isLeaf": true, "isRoot": false, "parents": [ 19945, 24270 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0002250", "MEDGEN:924885", "MESH:C563950", "OMIM:600348", "UMLS:C4284594" ], "synonyms": [ "band heterotopia of brain", "BH", "band heterotopia" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ] }, "child_count": 0, "reference_id": "MONDO:0010873" }, { "id": 12105, "label": "Brody myopathy", "isLeaf": true, "isRoot": false, "parents": [ 7023, 16785, 24270, 24618 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0050692", "GARD:0009158", "ICD9:359.89", "MEDGEN:371441", "MESH:C536607", "OMIM:601003", "Orphanet:53347", "SCTID:703530005", "UMLS:C1832918" ], "synonyms": [ "Brody myopathy", "Brody disease", "sarcoplasmic reticulum -Ca2+ATPase deficiency" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "Brody myopathy is a hereditary condition that affects the skeletal muscles (muscles used for movement). Symptoms typically begin in childhood and are characterized by muscle cramping and stiffening (myopathy) after exercise or other strenuous activity. These symptoms can worsen in cold temperatures and are usually painless, however, some individuals may have mild discomfort. Some cases of Brody myopathy are caused by mutations in the ATP2A1 gene. The cause of Brody myopathy for individuals not found to have an ATP2A1 gene mutation remains unknown. Brody myopathy is usually inherited in an autosomal recessive manner with a few reported cases of autosomal dominant inheritance. While there is no one treatment for Brody myopathy, certain muscle relaxants, such as dantrolene and blood pressure medications called calcium channel blockers, such as verapamil may be useful. Some researchers suggest that individuals found to have an ATP2A1 gene mutation have a slightly different disorder in which symptoms appear at an earlier age. They use the disease term 'Brody disease' for individuals with an identifiedmutation versus 'Brody syndrome' for those that do not. More research may help clarify whether these are two different disorders or a variation of the same disorder." }, "child_count": 0, "reference_id": "MONDO:0010977" }, { "id": 12187, "label": "chorea, remitting, with nystagmus and cataract", "isLeaf": true, "isRoot": false, "parents": [ 3794, 24270 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0009606", "MEDGEN:330463", "MESH:C535355", "OMIM:601372", "UMLS:C1832422" ], "synonyms": [ "chorea, remitting, with nystagmus and cataract", "chorea, remitting with nystagmus and cataracts", "familial remitting chorea, nystagmus and cataracts" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ] }, "child_count": 0, "reference_id": "MONDO:0011061" }, { "id": 12216, "label": "isolated hereditary congenital facial paralysis", "isLeaf": false, "isRoot": false, "parents": [ 4427, 24270 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0008583", "MEDGEN:1381843", "MESH:C563309", "OMIMPS:601471", "Orphanet:306527", "SCTID:733091002", "UMLS:C4518577" ], "synonyms": [ "HCFP", "MBS2 (formerly)", "Mobius syndrome 2 (formerly)", "Moebius syndrome 2 (formerly)", "facial palsy, congenital, unilateral or bilateral", "facial paresis hereditary congenital", "facial paresis, hereditary congenital", "hereditary congenital facial paresis" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "Isolated hereditary congenital facial paralysis (IHCFP) is an extremely rare neurological disorder presumed to result from maldevelopment of the facial nucleus and/or cranial nerve and has been reported in fewer than 10 families to date. It manifests as non-progressive, isolated, unilateral or bilateral, symmetrical or asymmetrical facial palsy. Involvement of the branches of the facial nerve can be unequal." }, "child_count": 2, "reference_id": "MONDO:0011090" }, { "id": 12306, "label": "childhood apraxia of speech", "isLeaf": true, "isRoot": false, "parents": [ 16807, 24270 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0111275", "GARD:0012889", "ICD9:315.39", "MEDGEN:152917", "OMIM:602081", "Orphanet:209908", "SCTID:229703009", "UMLS:C0750927", "icd11.foundation:1590154825" ], "synonyms": [ "CAS", "childhood apraxia of speech", "developmental verbal dyspraxia", "speech and language disorder with orofacial dyspraxia", "speech-language disorder type 1", "SPCH1", "articulatory apraxia", "das", "developmental apraxia of speech", "developmental verbal apraxia", "speech-language disorder 1", "speech-language disorder-1" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ] }, "child_count": 0, "reference_id": "MONDO:0011184" }, { "id": 12360, "label": "megalencephaly-capillary malformation-polymicrogyria syndrome", "isLeaf": true, "isRoot": false, "parents": [ 24020, 24270, 29234 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0006950", "ICD9:759.89", "MEDGEN:355421", "MESH:C536142", "NANDO:2200823", "NORD:1423", "OMIM:602501", "Orphanet:60040", "SCTID:703370002", "UMLS:C1865285" ], "synonyms": [ "MCAP", "MCM", "MCMTC", "Megalencephaly-Capillary Malformation", "macrocephaly-capillary malformation syndrome", "macrocephaly-cutis marmorata telangiectatica congenita syndrome", "megalencephaly-capillary malformation syndrome", "megalencephaly-capillary malformation-polymicrogyria syndrome", "megalencephaly-capillary malformation-polymicrogyria syndrome, somatic", "megalencephaly-cutis marmorata telangiectatica congenita syndrome", "M-CM", "M-CMTC", "macrocephaly cutis marmorata telangiectatica congenita", "macrocephaly-capillary malformation", "macrocephaly-cutis marmorata telangiectatica congenita", "megalencephaly cutis marmorata telangiectatica congenita", "megalencephaly-cutis marmorata telangiectatica congenita", "megalocephaly cutis marmorata telangiectatica congenita" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "A polymalfomative syndrome characterized by cutaneous capillary malformations, megalencephaly, cortical brain malformations (most distinctively polymicrogyria), abnormalities of somatic growth with body and brain asymmetry, developmental delay, and characteristic facial dysmorphism." }, "child_count": 0, "reference_id": "MONDO:0011240" }, { "id": 12606, "label": "familial infantile myoclonic epilepsy", "isLeaf": true, "isRoot": false, "parents": [ 16437, 24270, 24301 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0017521", "MEDGEN:181488", "OMIM:605021", "Orphanet:352582", "UMLS:C0917800" ], "synonyms": [ "FIME", "familial infantile myoclonus epilepsy", "myoclonic epilepsy, infantile, familial", "Eim", "myoclonic epilepsy, familial infantile" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "A rare, genetic, infantile epilepsy syndrome disease characterized by neonatal- to infancy-onset myoclonic focal seizures occurring in various members of a family, associated in some with mild dysarthria, ataxia and borderline-to-moderate intellectual disability." }, "child_count": 0, "reference_id": "MONDO:0011506" }, { "id": 12648, "label": "TH-deficient dopa-responsive dystonia", "isLeaf": true, "isRoot": false, "parents": [ 7611, 17241, 17628, 23816, 24270 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0051059", "GARD:0001902", "MEDGEN:382128", "NORD:1810", "OMIM:605407", "Orphanet:101150", "SCTID:715827001", "UMLS:C2673535" ], "synonyms": [ "DYT5b", "Dopa-responsive dystonia, autosomal recessive", "Segawa syndrome, recessive", "Tyrosine Hydroxylase Deficiency", "autosomal recessive Segawa syndrome", "autosomal recessive dopa-responsive dystonia", "dopa-responsive dystonia, autosomal recessive", "tyrosine hydroxylase-deficient dopa-responsive dystonia", "DOPA responsive dystonia, autosomal recessive", "Parkinsonism, infantile, autosomal recessive", "Segawa syndrome, autosomal recessive", "dystonia, DOPA responsive, autosomal recessive", "dystonia, Dopa-responsive, autosomal recessive" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "Autosomal recessive dopa-responsive dystonia (DYT5b) is a very rare neurometabolic disorder characterized by a spectrum of symptoms ranging from those seen in dopa-responsive dystonia (DRD) to progressive infantile encephalopathy." }, "child_count": 0, "reference_id": "MONDO:0011551" }, { "id": 12708, "label": "glycine encephalopathy", "isLeaf": false, "isRoot": false, "parents": [ 6510, 7209, 19103, 24270 ], "type_id": 0, "properties": { "xrefs": [ "DOID:9268", "GARD:0007219", "ICD9:270.7", "MEDGEN:155625", "NANDO:1200984", "NANDO:2200476", "NCIT:C84937", "NORD:1512", "OMIMPS:605899", "Orphanet:407", "SCTID:237939006", "UMLS:C0751748", "icd11.foundation:1491869639" ], "synonyms": [ "NKA", "Nonketotic Hyperglycinemia", "glycine encephalopathy", "non-ketotic hyperglycinemia", "nonketotic hyperglycinemia", "GCE", "GLYCINE encephalopathy", "Glycine synthase deficiency", "hyperglycinemia nonketotic", "hyperglycinemia, Nonketotic", "hyperglycinemia, transient neonatal" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "Glycine encephalopathy (GE) is an inborn error of glycine metabolism characterized by accumulation of glycine in body fluids and tissues, including the brain, resulting in neurometabolic symptoms of variable severity." }, "child_count": 20, "reference_id": "MONDO:0011612" }, { "id": 12792, "label": "spongiform encephalopathy with neuropsychiatric features", "isLeaf": true, "isRoot": false, "parents": [ 7097, 23939, 24270 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0024819", "MEDGEN:339812", "MESH:C564678", "OMIM:606688", "UMLS:C1847650" ], "synonyms": [ "spongiform encephalopathy with neuropsychiatric features" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ] }, "child_count": 0, "reference_id": "MONDO:0011703" }, { "id": 12825, "label": "bilateral frontoparietal polymicrogyria", "isLeaf": true, "isRoot": false, "parents": [ 17468, 24270 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0080922", "GARD:0010784", "MEDGEN:376107", "MESH:C564652", "NCIT:C148367", "OMIM:606854", "Orphanet:101070", "UMLS:C1847352", "icd11.foundation:1119484699" ], "synonyms": [ "bilateral frontoparietal polymicrogyria", "BFPP", "cerebellar ataxia with neuronal migration defect", "polymicrogyria, bilateral frontoparietal" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "A descriptive term reflecting increased gyral folding in the frontoparietal regions as determined by magnetic resonance imaging. It has subsequently been shown to represent a cobblestone malformation on histopathology. BFPP typically presents with hypotonia, developmental delay, moderate to severe intellectual disability, pyramidal signs, epileptic seizures, non-progressive cerebellar ataxia, deconjugate gaze, and/or strabismus." }, "child_count": 0, "reference_id": "MONDO:0011738" }, { "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": 12866, "label": "angioid streaks", "isLeaf": false, "isRoot": false, "parents": [ 6979, 24270 ], "type_id": 0, "properties": { "xrefs": [ "DOID:13401", "EFO:1000805", "MEDGEN:1541", "MESH:D000793", "MedDRA:10066191", "OMIM:607140", "UMLS:C0002982" ], "synonyms": [ "angioid streaks" ], "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": "Small breaks in the elastin-filled tissue of the retina." }, "child_count": 2, "reference_id": "MONDO:0011782" }, { "id": 12873, "label": "familial meningioma", "isLeaf": true, "isRoot": false, "parents": [ 17113, 20011, 24270 ], "type_id": 0, "properties": { "xrefs": [ "DOID:4586", "GARD:0018385", "MEDGEN:764829", "MESH:C537443", "NCIT:C5301", "OMIM:607174", "UMLS:C3551915" ], "synonyms": [ "meningioma", "familial meningioma", "hereditary meningioma", "hereditary meningioma (disease)", "meningioma, NF2-related, somatic", "meningioma, SIS-related", "meningioma, familial, susceptibility to", "susceptibility to familial meningioma" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "A meningioma that is transmitted from the parents to an offspring." }, "child_count": 0, "reference_id": "MONDO:0011789" }, { "id": 12922, "label": "biotin-responsive basal ganglia disease", "isLeaf": true, "isRoot": false, "parents": [ 2745, 5849, 24270 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0050659", "GARD:0010237", "ICD9:333.99", "MEDGEN:375289", "MESH:C537658", "OMIM:607483", "Orphanet:199348", "Orphanet:65284", "SCTID:703522009", "SCTID:723557004", "UMLS:C1843807", "icd11.foundation:1776831202" ], "synonyms": [ "BBGD", "BTBGD", "THMD2", "biotin-responsive basal ganglia disease", "biotin-thiamine-responsive basal ganglia disease", "encephalopathy, thiamine-responsive", "thiamine metabolism dysfunction syndrome 2 (biotin- and thiamine-responsive type)", "thiamine-responsive encephalopathy", "thiamine metabolism dysfunction syndrome 2 (biotin- or thiamine-responsive type)" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "Any thiamine-responsive dysfunction syndrome in which the cause of the disease is a variation in the SLC19A3 gene, characterized by subacute encephalopathy with confusion, seizures, and movement disorder, often following a history of febrile illness." }, "child_count": 0, "reference_id": "MONDO:0011841" }, { "id": 12992, "label": "anxiety", "isLeaf": true, "isRoot": false, "parents": [ 7258, 24270 ], "type_id": 0, "properties": { "xrefs": [ "MEDGEN:1613", "MESH:D001007", "OMIM:607834", "UMLS:C0003467", "icd11.foundation:2027043655" ], "synonyms": [ "anxiety", "anxiety-related personality traits", "harm avoidance" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ] }, "child_count": 0, "reference_id": "MONDO:0011918" }, { "id": 13041, "label": "rolandic epilepsy-paroxysmal exercise-induced dystonia-writer's cramp syndrome", "isLeaf": true, "isRoot": false, "parents": [ 19725, 24270 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0111645", "GARD:0017003", "MEDGEN:334104", "MESH:C535499", "OMIM:608105", "Orphanet:163727", "UMLS:C1842531", "icd11.foundation:1311096281" ], "synonyms": [ "epilepsy, rolandic, with paroxysmal exercise-induce dystonia and writer's cramp", "EPRPDC", "Re-ped-Wc", "epilepsy, ROLANDIC, with paroxysmal exercise-induced dystonia and writer'S cramp" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "A rare genetic epilepsy syndrome characterized by infantile or childhood onset of focal motor seizures remitting with age, as well as childhood onset of exercise-induced dystonia which often persists into adulthood. Additional reported features include nystagmus and postural tremor of the hands." }, "child_count": 0, "reference_id": "MONDO:0011970" }, { "id": 13071, "label": "specific phobia", "isLeaf": false, "isRoot": false, "parents": [ 5582, 24270 ], "type_id": 0, "properties": { "xrefs": [ "DOID:599", "EFO:1001918", "ICD9:300.29", "MEDGEN:65932", "MESH:C562465", "NCIT:C35284", "OMIM:608251", "SCTID:54587008", "UMLS:C0236801", "icd11.foundation:239513569" ], "synonyms": [ "simple phobia", "phobia, simple", "phobia, specific" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "An anxiety disorder characterized by an intense, irrational fear cued by the presence or anticipation of a specific object or situation. Exposure to the phobic stimulus immediately provokes an anxiety response. In adults, the specific phobia is recognized as excessive or unreasonable." }, "child_count": 6, "reference_id": "MONDO:0012000" }, { "id": 13101, "label": "bradyopsia", "isLeaf": false, "isRoot": false, "parents": [ 6979, 24270 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0050335", "GARD:0012299", "ICD9:368.8", "MEDGEN:331206", "MESH:C564243", "OMIMPS:608415", "Orphanet:75374", "SCTID:711163009", "UMLS:C1842073", "icd11.foundation:1497247503" ], "synonyms": [ "PERRS", "bradyopsia", "prolonged electroretinal response suppression" ], "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": "Bradyopsia is characterized by prolonged electroretinal response suppression leading to difficulties adjusting to changes in luminance, normal to subnormal acuity and photophobia." }, "child_count": 4, "reference_id": "MONDO:0012033" }, { "id": 13116, "label": "endogenous depression", "isLeaf": true, "isRoot": false, "parents": [ 4164, 24270 ], "type_id": 0, "properties": { "xrefs": [ "DOID:1595", "MEDGEN:3763", "NCIT:C34532", "SCTID:300706003", "UMLS:C0011573" ], "synonyms": [ "MDD", "clinical depression", "major depressive disorder", "unipolar depression" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "Depression which is considered strictly biological." }, "child_count": 0, "reference_id": "MONDO:0012048" }, { "id": 13242, "label": "narcolepsy 3", "isLeaf": true, "isRoot": false, "parents": [ 16757, 24270, 24279 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0015447", "MEDGEN:332320", "OMIM:609039", "UMLS:C1836907" ], "synonyms": [ "NRCLP3", "narcolepsy 3" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "A rare, autosomal dominant form of narcolepsy mapped to chromosome 21q, between genetic markers D21S267 and ABCG1. 6 patients with the milder form were DQB1*0602-positive." }, "child_count": 0, "reference_id": "MONDO:0012179" }, { "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": 13346, "label": "myofibrillar myopathy 5", "isLeaf": true, "isRoot": false, "parents": [ 4427, 16776, 18865, 24270 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0080096", "GARD:0017062", "MEDGEN:372186", "MESH:C537932", "OMIM:609524", "Orphanet:171445", "UMLS:C1836050" ], "synonyms": [ "FLNC myofibrillar myopathy (disease)", "myofibrillar myopathy (disease) caused by mutation in FLNC", "myofibrillar myopathy 5", "myofibrillar myopathy type 5", "myopathy, myofibrillar, type 5", "MFM5", "filaminopathy, autosomal dominant", "muscle filaminopathy", "myopathy, myofibrillar, 5", "myopathy, myofibrillar, filamin C-related" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "Muscle filaminopathy is a rare myofibrillar myopathy characterized by slowly progressive, proximal skeletal muscle weakness, which is initially more prominent in lower extremities and involves upper extremities with disease progression. Patients present with difficulty climbing stairs, a waddling gait, marked winging of scapula, lower back pain, paresis of limb girdle musculature, hypo-/areflexia and/or mild facial muscle weakness in rare cases. Respiratory muscle weakness is common and cardiac anomalies (conduction blocks, tachycardia, diastolic dysfunction, left ventricular hypertrophy) have been reported in some cases." }, "child_count": 0, "reference_id": "MONDO:0012289" }, { "id": 13375, "label": "major affective disorder 3", "isLeaf": true, "isRoot": false, "parents": [ 6726, 24270 ], "type_id": 0, "properties": { "xrefs": [ "MEDGEN:351270", "MESH:C566501", "OMIM:609633", "UMLS:C1864994" ], "synonyms": [ "MAFD3", "major affective disorder 3", "major affective disorder 3, early onset", "MAJOR affective disorder 3", "bipolar affective disorder, early-onset" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ] }, "child_count": 0, "reference_id": "MONDO:0012319" }, { "id": 13449, "label": "achromatopsia 6", "isLeaf": true, "isRoot": false, "parents": [ 18788, 24270 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0081025", "GARD:0010648", "MESH:C566483", "OMIM:610024" ], "synonyms": [ "ACHM6", "RCD3A", "retinal cone dystrophy 3A", "retinal cone dystrophy type 3A" ], "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": "Any achromatopsia caused by a mutation in the PDE6H gene, characterized by incomplete loss of color vision, with a red-green color vision defect and normal or near-normal blue-yellow vision. Reduced visual acuity is also present, but not progressive." }, "child_count": 0, "reference_id": "MONDO:0012398" }, { "id": 13458, "label": "pyridoxal phosphate-responsive seizures", "isLeaf": true, "isRoot": false, "parents": [ 19101, 23787, 24270 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0111329", "GARD:0010730", "MEDGEN:350498", "MESH:C566449", "OMIM:610090", "Orphanet:79096", "SCTID:724576005", "UMLS:C1864723", "icd11.foundation:1632334328", "icd11.foundation:604024463" ], "synonyms": [ "PNPO deficiency", "PNPO-related neonatal epileptic encephalopathy", "pyridox(am)ine 5’-phosphate oxidase deficiency", "pyridoxal phosphate-dependent seizures", "pyridoxamine 5'-phosphate oxidase deficiency", "pyridoxine 5' phosphate oxidase deficiency", "PNPOD", "Pnpo deficiency", "epileptic encephalopathy, neonatal, Pnpo-related", "pyridoxal 5'-phosphate-dependent epilepsy", "pyridoxamine 5-prime-phosphate oxidase deficiency", "pyridoxine-5'-phosphate oxidase deficiency", "seizures, pyridoxine-resistant, PLP-sensitive" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "A very rare neonatal epileptic encephalopathy disorder characterized clinically by onset of severe seizures within hours of birth that are not responsive to anticonvulsants, but are responsive to treatment with pyridoxal phosphate." }, "child_count": 0, "reference_id": "MONDO:0012407" }, { "id": 13533, "label": "prosopagnosia, hereditary", "isLeaf": true, "isRoot": false, "parents": [ 5178, 24270 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0010035", "MEDGEN:419809", "MESH:C537242", "OMIM:610382", "UMLS:C2931455" ], "synonyms": [ "hereditary prosopagnosia (disease)", "prosopagnosia, hereditary", "congenital prosopagnosia", "developmental prosopagnosia", "face blindness", "hereditary prosopagnosia", "prosopagnosia, congenital", "prosopagnosia, developmental" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "An instance of prosopagnosia (disease) that is caused by an inherited modification of the individual's genome." }, "child_count": 0, "reference_id": "MONDO:0012484" }, { "id": 13640, "label": "brain-lung-thyroid syndrome", "isLeaf": true, "isRoot": false, "parents": [ 7073, 24245, 24270 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0012163", "MEDGEN:369694", "MESH:C567034", "OMIM:610978", "Orphanet:209905", "SCTID:719098007", "UMLS:C1970269", "icd11.foundation:809856670" ], "synonyms": [ "brain-lung-thyroid syndrome", "choreoathetosis, hypothyroidism, and neonatal respiratory distress", "choreoathetosis-hypothyroidism-neonatal respiratory distress syndrome", "BLT syndrome", "CAHTP", "choreoathetosis and congenital hypothyroidism with or without pulmonary dysfunction", "choreoathetosis-hypothyroidism-neonatal respiratory distress" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" }, { "ref": "MONDO:0005151", "name": "endocrine system disorder" } ], "definition": "Brain-lung-thyroid syndrome is a rare disorder characterized by congenital hypothyroidism (CH), infant respiratory distress syndrome (IRDS) and benign hereditary chorea (BHC)." }, "child_count": 0, "reference_id": "MONDO:0012593" }, { "id": 13658, "label": "polyhydramnios, megalencephaly, and symptomatic epilepsy", "isLeaf": true, "isRoot": false, "parents": [ 16437, 24270 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0070511", "GARD:0012913", "MEDGEN:370203", "MESH:C567020", "OMIM:611087", "Orphanet:500533", "UMLS:C1970203" ], "synonyms": [ "PMSE syndrome", "polyhydramnios, megalencephaly, and symptomatic epilepsy", "PMSE", "polyhydramnios, megalencephaly, and symptomatic epilepsy syndrome", "polyhydramnios-megalencephaly-symptomatic epilepsy syndrome", "pretzel syndrome" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "A syndrome characterized by polyhydramnios, distinctive craniofacial features, infantile-onset epilepsy, hypotonia, macrocephaly, and global developmental delay that has material basis in homozygous mutation in the STRADA gene on chromosome 17q23.3." }, "child_count": 0, "reference_id": "MONDO:0012611" }, { "id": 13686, "label": "major affective disorder 4", "isLeaf": true, "isRoot": false, "parents": [ 6726, 24270 ], "type_id": 0, "properties": { "xrefs": [ "MEDGEN:372671", "MESH:C567073", "OMIM:611247", "UMLS:C1970943" ], "synonyms": [ "MAFD4", "major affective disorder 4", "MAJOR affective disorder 4", "bipolar affective disorder" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ] }, "child_count": 0, "reference_id": "MONDO:0012642" }, { "id": 13725, "label": "major affective disorder 5", "isLeaf": true, "isRoot": false, "parents": [ 6726, 24270 ], "type_id": 0, "properties": { "xrefs": [ "MEDGEN:372672", "MESH:C567074", "OMIM:611535", "UMLS:C1970944" ], "synonyms": [ "MAFD5", "major affective disorder 5", "MAJOR affective disorder 5", "bipolar affective disorder" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ] }, "child_count": 0, "reference_id": "MONDO:0012685" }, { "id": 13726, "label": "major affective disorder 6", "isLeaf": true, "isRoot": false, "parents": [ 6726, 24270 ], "type_id": 0, "properties": { "xrefs": [ "MEDGEN:372673", "MESH:C567075", "OMIM:611536", "UMLS:C1970945" ], "synonyms": [ "MAFD6", "major affective disorder 6", "MAJOR affective disorder 6", "bipolar affective disorder" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ] }, "child_count": 0, "reference_id": "MONDO:0012686" }, { "id": 13917, "label": "major affective disorder 8", "isLeaf": true, "isRoot": false, "parents": [ 6726, 24270 ], "type_id": 0, "properties": { "xrefs": [ "MEDGEN:397794", "MESH:C567530", "OMIM:612357", "UMLS:C2700439" ], "synonyms": [ "MAFD8", "major affective disorder 8", "major affective disorder-8, susceptibility to", "MAJOR affective disorder 8", "bipolar affective disorder" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ] }, "child_count": 0, "reference_id": "MONDO:0012877" }, { "id": 13921, "label": "major affective disorder 7", "isLeaf": true, "isRoot": false, "parents": [ 6726, 24270 ], "type_id": 0, "properties": { "xrefs": [ "MEDGEN:438008", "MESH:C567529", "OMIM:612371", "UMLS:C2700438" ], "synonyms": [ "major affective disorder 7", "major affective disorder type 7", "major affective disorder-7, susceptibility to", "MAFD7", "bipolar affective disorder" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ] }, "child_count": 0, "reference_id": "MONDO:0012881" }, { "id": 13922, "label": "major affective disorder 9", "isLeaf": true, "isRoot": false, "parents": [ 6726, 24270 ], "type_id": 0, "properties": { "xrefs": [ "MEDGEN:398108", "MESH:C567531", "OMIM:612372", "UMLS:C2700440" ], "synonyms": [ "MAFD9", "major affective disorder 9", "major affective disorder-9, susceptibility to", "MAJOR affective disorder 9", "bipolar affective disorder" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ] }, "child_count": 0, "reference_id": "MONDO:0012882" }, { "id": 13950, "label": "age-related hearing impairment 1", "isLeaf": true, "isRoot": false, "parents": [ 22991, 23243, 24270 ], "type_id": 0, "properties": { "xrefs": [ "MEDGEN:382794", "MESH:C567305", "OMIM:612448", "UMLS:C2676230" ], "synonyms": [ "ARHI1", "age-related hearing impairment 1", "presbycusis 1" ], "categories": [ { "ref": "MONDO:0002409", "name": "auditory system disorder" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ] }, "child_count": 0, "reference_id": "MONDO:0012910" }, { "id": 14026, "label": "bilateral parasagittal parieto-occipital polymicrogyria", "isLeaf": true, "isRoot": false, "parents": [ 17468, 24270 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0080923", "GARD:0010785", "MEDGEN:862085", "MESH:C567201", "OMIM:612691", "Orphanet:208441", "UMLS:C4013648", "icd11.foundation:293410499" ], "synonyms": [ "BTOP", "polymicrogyria, bilateral temporooccipital" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ] }, "child_count": 0, "reference_id": "MONDO:0012986" }, { "id": 14106, "label": "age-related hearing impairment 2", "isLeaf": true, "isRoot": false, "parents": [ 22991, 23243, 24270 ], "type_id": 0, "properties": { "xrefs": [ "MEDGEN:416639", "MESH:C567834", "OMIM:612976", "UMLS:C2751814" ], "synonyms": [ "ARHI2", "age-related hearing impairment 2", "presbycusis 2" ], "categories": [ { "ref": "MONDO:0002409", "name": "auditory system disorder" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ] }, "child_count": 0, "reference_id": "MONDO:0013068" }, { "id": 14137, "label": "combined pituitary hormone deficiencies, genetic form", "isLeaf": false, "isRoot": false, "parents": [ 4427, 6876, 16526, 24270 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0010602", "MEDGEN:906592", "OMIMPS:613038", "Orphanet:95494", "SCTID:718182008", "UMLS:C4273747" ], "synonyms": [ "familial congenital hypopituitarism", "genetic hypopituitarism", "multiple pituitary hormone deficiencies, genetic forms", "pituitary hormone deficiency, combined", "combined pituitary hormone deficiencies, genetic forms", "familial hypopituitarism" ], "categories": [ { "ref": "MONDO:0005039", "name": "reproductive system disorder" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" }, { "ref": "MONDO:0005151", "name": "endocrine system disorder" } ], "definition": "Congenital hypopituitarism is characterized by multiple pituitary hormone deficiency, including somatotroph, thyrotroph, lactotroph, corticotroph or gonadotroph deficiencies, due to mutations of pituitary transcription factors involved in pituitary ontogenesis. Congenital hypopituitarism is rare compared with the high incidence of hypopituitarism induced by pituitary adenomas, transsphenoidal surgery or radiotherapy." }, "child_count": 36, "reference_id": "MONDO:0013099" }, { "id": 14244, "label": "cirrhosis - dystonia - polycythemia - hypermanganesemia syndrome", "isLeaf": true, "isRoot": false, "parents": [ 2773, 17991, 20335, 24270 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0080536", "GARD:0010706", "ICD9:277.89", "MEDGEN:412958", "MESH:C548016", "OMIM:613280", "Orphanet:309854", "SCTID:702377007", "UMLS:C2750442" ], "synonyms": [ "cirrhosis - dystonia - polycythemia - hypermanganesemia syndrome", "HMDPC", "HMNDYT1", "hypermanganesemia with dystonia 1", "hypermanganesemia with dystonia polycythemia and cirrhosis", "hypermanganesemia with dystonia, polycythemia, and cirrhosis" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ] }, "child_count": 0, "reference_id": "MONDO:0013208" }, { "id": 14260, "label": "rhabdoid tumor predisposition syndrome 2", "isLeaf": true, "isRoot": false, "parents": [ 16983, 20002, 24270 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0060997", "GARD:0018319", "MEDGEN:413749", "MESH:C567643", "NCIT:C178394", "OMIM:613325", "UMLS:C2750074" ], "synonyms": [ "SMARCA4 familial rhabdoid tumor", "SMARCA4 familial rhabdoid tumour", "familial rhabdoid tumor caused by mutation in SMARCA4", "familial rhabdoid tumour caused by mutation in SMARCA4", "rhabdoid tumor predisposition syndrome 2", "rhabdoid tumor predisposition syndrome type 2", "rhabdoid tumour predisposition syndrome type 2", "RTPS2" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "Any familial rhabdoid tumor in which the cause of the disease is a mutation in the SMARCA4 gene." }, "child_count": 0, "reference_id": "MONDO:0013224" }, { "id": 14384, "label": "infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly", "isLeaf": true, "isRoot": false, "parents": [ 4657, 24270 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0111262", "GARD:0010995", "MEDGEN:462271", "OMIM:613668", "Orphanet:402364", "UMLS:C3150921" ], "synonyms": [ "microcephaly, postnatal progressive, with seizures and brain atrophy", "postnatal progressive microcephaly, seizures, and brain atrophy" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly is a rare, central nervous system malformation syndrome characterized by progressive microcephaly with profound motor delay and intellectual disability, associated with hypertonia, spasticity, clonus, and seizures, with brain imaging revealing severe cerebral and cerebellar atrophy, and poor myelination." }, "child_count": 0, "reference_id": "MONDO:0013351" }, { "id": 14528, "label": "schizophrenia 15", "isLeaf": true, "isRoot": false, "parents": [ 6817, 24270 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0070091", "MEDGEN:462730", "OMIM:613950", "UMLS:C3151380" ], "synonyms": [ "SCZD15", "schizophrenia 15", "schizophrenia type 15", "schizophrenia 15 with or without an affective disorder", "schizophrenia susceptibility locus, chromosome 22Q13-related" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "A schizophrenia that has material basis in a mutation of SHANK3 on chromosome 22q13.33." }, "child_count": 0, "reference_id": "MONDO:0013498" }, { "id": 14536, "label": "schizophrenia 16", "isLeaf": true, "isRoot": false, "parents": [ 3606, 6817, 24270 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0070092", "MEDGEN:462758", "OMIM:613959", "UMLS:C3151408" ], "synonyms": [ "SCZD16", "schizophrenia 16", "schizophrenia type 16", "chromosome 7Q36.3 Duplication syndrome, 362-Kb", "schizophrenia susceptibility locus, chromosome 7Q36.3-related" ], "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": "A schizophrenia that has material basis in a mutation on chromosome 7q36.3." }, "child_count": 0, "reference_id": "MONDO:0013506" }, { "id": 14611, "label": "occipital pachygyria and polymicrogyria", "isLeaf": true, "isRoot": false, "parents": [ 7209, 24270 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0017299", "MEDGEN:481505", "OMIM:614115", "Orphanet:280640", "UMLS:C3279875" ], "synonyms": [ "occipital MCD", "occipital malformations of cortical development", "OCCM", "cortical malformations, occipital" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ] }, "child_count": 0, "reference_id": "MONDO:0013583" }, { "id": 14665, "label": "familial retinal arterial macroaneurysm", "isLeaf": true, "isRoot": false, "parents": [ 4419, 24270, 24272 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0012779", "MEDGEN:481835", "OMIM:614224", "Orphanet:284247", "SCTID:764452004", "UMLS:C3280205", "icd11.foundation:800928909" ], "synonyms": [ "FRAM", "Fram", "retinal arterial macroaneurysm and supravalvular pulmonic stenosis", "RAMSVPS", "retinal arterial macroaneurysm with supravalvular pulmonic stenosis" ], "categories": [ { "ref": "MONDO:0002022", "name": "disorder of orbital region" }, { "ref": "MONDO:0004995", "name": "cardiovascular disorder" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" }, { "ref": "MONDO:0024458", "name": "disorder of visual system" } ] }, "child_count": 0, "reference_id": "MONDO:0013640" }, { "id": 14676, "label": "narcolepsy 7", "isLeaf": true, "isRoot": false, "parents": [ 16757, 24270, 24279 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0015783", "MEDGEN:481896", "OMIM:614250", "UMLS:C3280266" ], "synonyms": [ "MOG narcolepsy", "narcolepsy 7", "narcolepsy caused by mutation in MOG", "narcolepsy type 7", "NRCLP7" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "Any narcolepsy in which the cause of the disease is a mutation in the MOG gene." }, "child_count": 0, "reference_id": "MONDO:0013652" }, { "id": 14919, "label": "bilateral generalized polymicrogyria", "isLeaf": true, "isRoot": false, "parents": [ 17468, 18729, 24270 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0080920", "GARD:0010786", "MEDGEN:1684616", "Orphanet:208447", "UMLS:C5139324" ], "synonyms": [ "bilateral generalized polymicrogyria", "microcephaly, short stature, and polymicrogyria with seizures", "MSSP", "PMGYS", "microcephaly, short stature, and polymicrogyria with or without seizures", "polymicrogyria with seizures" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "Bilateral generalized polymicrogyria is a rare neurological disorder that affects the cerebral cortex (the outer surface of the brain). This is the most widespread form of polymicrogyria and typically affects the entire surface of the brain. Signs and symptoms include severe intellectual disability, problems with movement, and seizures that are difficult or impossible to treat. While the exact cause of bilateral generalized polymicrogyria is not fully understood, it is thought to be due to improper brain development during embryonic growth. Most cases appear to follow an autosomal recessive pattern of inheritance. Treatment is based on the signs and symptoms present in each person." }, "child_count": 0, "reference_id": "MONDO:0013907" }, { "id": 14991, "label": "myoclonus, familial", "isLeaf": false, "isRoot": false, "parents": [ 7073, 24270 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0017444", "OMIMPS:614937", "Orphanet:319189", "SCTID:763770005" ], "synonyms": [ "familial cortical myoclonus", "familial myoclonus", "myoclonus, familial cortical", "FCM" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "A rare, genetic movement disorder characterized by autosomal dominant, adult-onset, slowly progressive, multifocal, cortical myoclonus. Patients present somatosensory-evoked, brief, jerky, involuntary movements in the face, arms and legs, associated in most of cases with sustained, multiple, sudden falls without loss of consciousness. Seizures or other neurological deficits, aside from mild cerebellar ataxia late in the course of the illness, are absent." }, "child_count": 4, "reference_id": "MONDO:0013981" }, { "id": 15256, "label": "familial hyperprolactinemia", "isLeaf": true, "isRoot": false, "parents": [ 7420, 24270 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0017634", "MEDGEN:1645317", "OMIM:615555", "Orphanet:397685", "SCTID:763715007", "UMLS:C4706551" ], "synonyms": [ "familial hyperprolactinemia", "familial isolated prolactin receptor deficiency", "hereditary hyperprolactinemia (disease)", "HPRL", "hyperprolactinemia" ], "categories": [ { "ref": "MONDO:0005039", "name": "reproductive system disorder" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" }, { "ref": "MONDO:0005151", "name": "endocrine system disorder" } ], "definition": "Familial hyperprolactinemia is a rare, genetic endocrine disorder characterized by persistently high prolactin serum levels (not associated with gestation, puerperium, drug intake or pituitary tumor) in multiple affected family members. Clinically it manifests with signs usually observed in hyperprolactinemia, which are: secondary medroxyprogesterone acetate (MPA)-negative amenorrhea and galactorrhea in female patients, and hypogonadism and decreased testosterone level-driven sexual disfunction in male patients. Oligomenorrhea and primary infertility have also been reported in some female patients." }, "child_count": 0, "reference_id": "MONDO:0014250" }, { "id": 15304, "label": "proximal myopathy with extrapyramidal signs", "isLeaf": true, "isRoot": false, "parents": [ 7023, 7073, 24270, 24618 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0111335", "GARD:0012978", "MEDGEN:816615", "OMIM:615673", "Orphanet:401768", "UMLS:C3810285" ], "synonyms": [ "MPXPS", "myopathy with extrapyramidal signs" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "Proximal myopathy with extrapyramidal signs is a rare, hereditary non-dystrophic myopathy characterized by proximal muscle weakness, delayed motor development, learning difficulties, and progressive extrapyramidal motor signs including chorea, dystonia and tremor. Variable additional features have been reported - ataxia, microcephaly, ophthalmoplegia, ptosis, and optic atrophy." }, "child_count": 0, "reference_id": "MONDO:0014300" }, { "id": 15318, "label": "sacral agenesis-abnormal ossification of the vertebral bodies-persistent notochordal canal syndrome", "isLeaf": true, "isRoot": false, "parents": [ 18236, 24270 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0017642", "MEDGEN:816673", "OMIM:615709", "Orphanet:397927", "UMLS:C3810343" ], "synonyms": [ "SAVA", "sacral agenesis with vertebral anomalies" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ] }, "child_count": 0, "reference_id": "MONDO:0014314" }, { "id": 15335, "label": "polymicrogyria, bilateral perisylvian, autosomal recessive", "isLeaf": true, "isRoot": false, "parents": [ 19807, 24270 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0016009", "MEDGEN:816735", "OMIM:615752", "UMLS:C3810405" ], "synonyms": [ "polymicrogyria, bilateral perisylvian", "polymicrogyria, bilateral perisylvian, autosomal recessive", "BPPR", "Pmgr" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ] }, "child_count": 0, "reference_id": "MONDO:0014333" }, { "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": 15545, "label": "myopathy due to calsequestrin and SERCA1 protein overload", "isLeaf": true, "isRoot": false, "parents": [ 16785, 24270, 24618 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0016770", "MEDGEN:864061", "OMIM:616231", "Orphanet:88635", "SCTID:724095006", "UMLS:C4015624" ], "synonyms": [ "VMCQA", "myopathy, vacuolar, with CASQ1 aggregates" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "Myopathy due to calsequestrin and SERCA1 protein overload is characterized by mild myopathy or elevated levels of creatine kinase in the blood without associated symptoms." }, "child_count": 0, "reference_id": "MONDO:0014546" }, { "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": 15557, "label": "progressive essential tremor-speech impairment-facial dysmorphism-intellectual disability-abnormal behavior syndrome", "isLeaf": true, "isRoot": false, "parents": [ 7073, 19084, 24270 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0081212", "GARD:0017798", "MEDGEN:895952", "OMIM:616269", "Orphanet:457212", "UMLS:C4225395" ], "synonyms": [ "intellectual disability, autosomal recessive type 48", "mental retardation, autosomal recessive type 48", "MRT48", "intellectual disability, autosomal recessive 48", "mental retardation, autosomal recessive 48" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ] }, "child_count": 0, "reference_id": "MONDO:0014559" }, { "id": 15620, "label": "Brown syndrome", "isLeaf": true, "isRoot": false, "parents": [ 6524, 24270 ], "type_id": 0, "properties": { "xrefs": [ "DOID:10235", "ICD10CM:H50.61", "ICD9:378.61", "MEDGEN:102332", "OMIM:616407", "SCTID:35929003", "UMLS:C0155339" ], "synonyms": [ "BRWNS", "Brown syndrome", "Brown tendon sheath syndrome", "Brown's (tendon) sheath syndrome", "Brown's sheath syndrome", "Brown's tendon sheath syndrome", "superior oblique tendon sheath syndrome", "tendon sheath adherence, Superior oblique" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "Brown syndrome is a rare eye disorder characterized by defects in eye movements caused by abnormalities of the superior oblique tendon sheath of the superior oblique muscle." }, "child_count": 0, "reference_id": "MONDO:0014624" }, { "id": 15629, "label": "epilepsy with myoclonic atonic seizures", "isLeaf": true, "isRoot": false, "parents": [ 4370, 24270, 25084 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0060475", "GARD:0016108", "ICD9:345.10", "MEDGEN:98284", "OMIM:616421", "Orphanet:1942", "SCTID:230421008", "UMLS:C0393702", "icd11.foundation:951920505" ], "synonyms": [ "Doose syndrome", "EMAS", "EMAtS", "MAE", "Myoclonic Atonic Epilepsy", "epilepsy with myoclonic atonic seizures", "epilepsy with myoclonic-astatic seizures", "epilepsy with myoclonic-atonic seizures", "myoclonic atonic epilepsy", "myoclonic-astatic epilepsy in early childhood", "myoclonic-atonic epilepsy", "epilepsy with myoclono-astatic crisis", "myoclonic astatic epilepsy" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "An idiopathic generalized epilepsy characterized by onset of multiple seizure types in the first few years of life and associated with poor prognosis. Affected individuals have cognitive regression and intellectual disability and that has material basis in heterozygous mutation in the SLC6A1 gene on chromosome 3p25." }, "child_count": 0, "reference_id": "MONDO:0014633" }, { "id": 15674, "label": "polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis", "isLeaf": true, "isRoot": false, "parents": [ 19807, 24270, 29244 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0016130", "MEDGEN:899982", "OMIM:616531", "UMLS:C4225295" ], "synonyms": [ "polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis", "PMGYCHA" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ] }, "child_count": 0, "reference_id": "MONDO:0014679" }, { "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": 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": 15846, "label": "hypermanganesemia with dystonia 2", "isLeaf": true, "isRoot": false, "parents": [ 2773, 7611, 17991, 24270 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0080537", "GARD:0017958", "MEDGEN:934732", "OMIM:617013", "Orphanet:521406", "SCTID:768554008", "UMLS:C4310765" ], "synonyms": [ "HMNDYT2", "SLC39A14 hypermanganesemia with dystonia", "hypermanganesemia with dystonia 2", "hypermanganesemia with dystonia 2; HMNDYT2", "hypermanganesemia with dystonia caused by mutation in SLC39A14", "hypermanganesemia with dystonia type 2" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "Any hypermanganesemia with dystonia in which the cause of the disease is a mutation in the SLC39A14 gene." }, "child_count": 0, "reference_id": "MONDO:0014864" }, { "id": 15916, "label": "aniridia 2", "isLeaf": true, "isRoot": false, "parents": [ 4546, 4709, 5006, 8531, 24259, 24270 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0016200", "MEDGEN:138010", "MESH:C536372", "OMIM:617141", "SCTID:253232000", "UMLS:C0344543" ], "synonyms": [ "AN2", "aniridia 2", "aniridia type 2" ], "categories": [ { "ref": "MONDO:0002022", "name": "disorder of orbital region" }, { "ref": "MONDO:0002118", "name": "urinary system disorder" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" }, { "ref": "MONDO:0024458", "name": "disorder of visual system" } ] }, "child_count": 0, "reference_id": "MONDO:0014937" }, { "id": 15917, "label": "aniridia 3", "isLeaf": true, "isRoot": false, "parents": [ 4546, 4709, 5006, 8531, 24259, 24270 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0016201", "MEDGEN:934662", "OMIM:617142", "UMLS:C4310695" ], "synonyms": [ "AN3", "TRIM44 isolated aniridia", "aniridia 3", "aniridia 3; AN3", "aniridia type 3", "isolated aniridia caused by mutation in TRIM44" ], "categories": [ { "ref": "MONDO:0002022", "name": "disorder of orbital region" }, { "ref": "MONDO:0002118", "name": "urinary system disorder" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" }, { "ref": "MONDO:0024458", "name": "disorder of visual system" } ], "definition": "Any isolated aniridia in which the cause of the disease is a mutation in the TRIM44 gene." }, "child_count": 0, "reference_id": "MONDO:0014938" }, { "id": 16495, "label": "severe congenital nemaline myopathy", "isLeaf": false, "isRoot": false, "parents": [ 4427, 16780, 16781, 18880, 24270 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0012821", "MEDGEN:1805110", "Orphanet:171430", "UMLS:C5680451", "icd11.foundation:1025202057" ], "synonyms": [ "severe congenital (neonatal) NM" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "Severe congenital nemaline myopathy is a severe form of nemaline myopathy (NM) characterized by severe hypotonia with little spontaneous movement in neonates." }, "child_count": 25, "reference_id": "MONDO:0015735" }, { "id": 16497, "label": "typical nemaline myopathy", "isLeaf": false, "isRoot": false, "parents": [ 4427, 16780, 16781, 17624, 18880, 24270 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0012822", "MEDGEN:1806265", "Orphanet:171436", "UMLS:C5680453", "icd11.foundation:1105111633" ], "synonyms": [ "typical congenital nemaline myopathy" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "Typical nemaline myopathy is a moderate neonatal form of nemaline myopathy (NM) characterized by facial and skeletal muscle weakness and mild respiratory involvement." }, "child_count": 36, "reference_id": "MONDO:0015737" }, { "id": 16498, "label": "childhood-onset nemaline myopathy", "isLeaf": false, "isRoot": false, "parents": [ 4427, 16780, 16781, 17624, 18880, 24270 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0007171", "MEDGEN:154265", "Orphanet:171439", "UMLS:C0546125" ], "synonyms": [ "mild nemaline myopathy" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "Childhood onset nemaline myopathy, or mild nemaline myopathy is a type of nemaline myopathy (NM) characterized by distal muscle weakness, and sometimes slowness of muscle contraction." }, "child_count": 36, "reference_id": "MONDO:0015738" }, { "id": 16499, "label": "adult-onset nemaline myopathy", "isLeaf": true, "isRoot": false, "parents": [ 4427, 16780, 16781, 18880, 24270 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0012824", "MEDGEN:154264", "Orphanet:171442", "UMLS:C0546123", "icd11.foundation:1610331066" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "Adult-onset nemaline myopathy is a rapidly progressive type of nemaline myopathy (NM) characterized by a very late onset." }, "child_count": 0, "reference_id": "MONDO:0015739" }, { "id": 16560, "label": "myopic macular degeneration", "isLeaf": true, "isRoot": false, "parents": [ 6979, 24270 ], "type_id": 0, "properties": { "xrefs": [ "EFO:0009201", "GARD:0020153", "MEDGEN:676480", "Orphanet:178493", "SCTID:312898002", "UMLS:C0730271" ], "synonyms": [ "myopic maculopathy" ], "categories": [ { "ref": "MONDO:0002022", "name": "disorder of orbital region" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" }, { "ref": "MONDO:0024458", "name": "disorder of visual system" } ] }, "child_count": 0, "reference_id": "MONDO:0015807" }, { "id": 16643, "label": "2-hydroxyglutaric aciduria", "isLeaf": false, "isRoot": false, "parents": [ 18954, 24270 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0050573", "GARD:0010761", "ICD9:270.8", "MEDGEN:412535", "MESH:C535306", "NCIT:C128187", "Orphanet:19", "SCTID:698870008", "UMLS:C2746066" ], "synonyms": [ "2-hydroxyglutaric acidemia", "2-hydroxyglutaric aciduria", "2-HGA" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "2-Hydroxyglutaric aciduria is a group of neurometabolic disorders with a wide clinical spectrum ranging from severe neonatal presentations to progressive forms, and asymptomatic cases, characterized biochemically by increased levels of 2-hydroxyglutaric acid in the plasma, cerebrospinal fluid and urine." }, "child_count": 6, "reference_id": "MONDO:0016001" }, { "id": 16665, "label": "benign neonatal seizures", "isLeaf": false, "isRoot": false, "parents": [ 19723, 24270 ], "type_id": 0, "properties": { "xrefs": [ "DOID:14264", "DOID:14777", "GARD:0001519", "MEDGEN:65082", "MedDRA:10067866", "NCIT:C117307", "OMIMPS:121200", "Orphanet:1949", "SCTID:279953009", "SCTID:38281008", "UMLS:C0220669" ], "synonyms": [ "BFNS", "benign familal neonatal seizures", "benign familial convulsion", "benign familial convulsions", "benign familial neonatal convulsions", "benign familial neonatal epilepsy", "benign familial neonatal seizures", "seizures, benign familial neonatal" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "A rare genetic epilepsy syndrome characterized by the occurrence of afebrile seizures in otherwise healthy newborns with onset in the first few days of life." }, "child_count": 8, "reference_id": "MONDO:0016027" }, { "id": 16746, "label": "qualitative or quantitative defects of alpha-sarcoglycan", "isLeaf": false, "isRoot": false, "parents": [ 16745, 24270 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0020390", "MEDGEN:1842296", "Orphanet:207060", "UMLS:C5680808" ], "synonyms": [ "alpha-sarcoglycanopathy" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ] }, "child_count": 2, "reference_id": "MONDO:0016141" }, { "id": 16747, "label": "qualitative or quantitative defects of beta-sarcoglycan", "isLeaf": false, "isRoot": false, "parents": [ 16745, 24270 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0020391", "HGNC:10806", "MEDGEN:418943", "MESH:C535435", "Orphanet:207063", "UMLS:C2930900" ], "synonyms": [ "beta-sarcoglycanopathy" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ] }, "child_count": 2, "reference_id": "MONDO:0016142" }, { "id": 16748, "label": "qualitative or quantitative defects of gamma-sarcoglycan", "isLeaf": false, "isRoot": false, "parents": [ 16745, 24270 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0020392", "MEDGEN:1842385", "Orphanet:207067", "UMLS:C5680805" ], "synonyms": [ "gamma-sarcoglycanopathy" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ] }, "child_count": 2, "reference_id": "MONDO:0016143" }, { "id": 16749, "label": "qualitative or quantitative defects of delta-sarcoglycan", "isLeaf": false, "isRoot": false, "parents": [ 16745, 24270 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0020393", "MEDGEN:1826098", "Orphanet:207070", "UMLS:C5680806" ], "synonyms": [ "delta-sarcoglycanopathy" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ] }, "child_count": 4, "reference_id": "MONDO:0016144" }, { "id": 16750, "label": "neuromuscular disease caused by qualitative or quantitative defects of dysferlin", "isLeaf": false, "isRoot": false, "parents": [ 16744, 24270 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0002003", "MEDGEN:419874", "MESH:C537995", "Orphanet:207073", "UMLS:C2931687" ], "synonyms": [ "dysferlinopathy", "qualitative or quantitative defects of dysferlin" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ] }, "child_count": 8, "reference_id": "MONDO:0016145" }, { "id": 16751, "label": "caveolinopathy", "isLeaf": false, "isRoot": false, "parents": [ 5798, 16744, 24270 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0020394", "MEDGEN:1826055", "Orphanet:207078", "UMLS:C5679790" ], "synonyms": [ "qualitative or quantitative defects of caveolin-3" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "A group of muscle diseases with basis in CAV3, which encodes caveolin-3, a muscle-specific membrane protein and the principal component of caveolae membrane in muscle cells in vivo. It is the only gene in which pathogenic variants are known to cause caveolinopathies. Sequence analysis identifies pathogenic variants in more than 99% of affected individuals" }, "child_count": 3, "reference_id": "MONDO:0016146" }, { "id": 16753, "label": "neuromuscular disease caused by qualitative or quantitative defects of perlecan", "isLeaf": false, "isRoot": false, "parents": [ 16744, 24270 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0020398", "MEDGEN:1842752", "Orphanet:207101", "UMLS:C5680831" ], "synonyms": [ "qualitative or quantitative defects of perlecan" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ] }, "child_count": 4, "reference_id": "MONDO:0016151" }, { "id": 16754, "label": "neuromuscular disease caused by qualitative or quantitative defects of TRIM32", "isLeaf": false, "isRoot": false, "parents": [ 16744, 24270 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0020400", "MEDGEN:1843261", "Orphanet:207107", "UMLS:C5680829" ], "synonyms": [ "qualitative or quantitative defects of TRIM32" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ] }, "child_count": 4, "reference_id": "MONDO:0016153" }, { "id": 16755, "label": "qualitative or quantitative defects of protein involved in O-glycosylation of alpha-dystroglycan", "isLeaf": false, "isRoot": false, "parents": [ 4427, 17974, 18397, 24270 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0020402", "MEDGEN:1842564", "Orphanet:207113", "UMLS:C5679795" ], "synonyms": [ "secondary alpha-dystroglycanopathy", "secondary dystroglycanopathy" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ] }, "child_count": 36, "reference_id": "MONDO:0016155" }, { "id": 16774, "label": "qualitative or quantitative defects of desmin", "isLeaf": false, "isRoot": false, "parents": [ 16773, 24270 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0020426", "MEDGEN:1842905", "Orphanet:209041", "UMLS:C5680839" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ] }, "child_count": 10, "reference_id": "MONDO:0016187" }, { "id": 16779, "label": "neuromuscular disease caused by qualitative or quantitative defects of telethonin", "isLeaf": false, "isRoot": false, "parents": [ 16744, 24270 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0020431", "MEDGEN:1842233", "Orphanet:209056", "UMLS:C5680842" ], "synonyms": [ "qualitative or quantitative defects of telethonin" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ] }, "child_count": 4, "reference_id": "MONDO:0016192" }, { "id": 16782, "label": "neuromuscular disease caused by qualitative or quantitative defects of beta-myosin heavy chain (MYH7)", "isLeaf": false, "isRoot": false, "parents": [ 16744, 24270 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0020434", "MEDGEN:1842636", "Orphanet:209185", "UMLS:C5680832" ], "synonyms": [ "qualitative or quantitative defects of beta-myosin heavy chain (MYH7)" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ] }, "child_count": 6, "reference_id": "MONDO:0016195" }, { "id": 16784, "label": "neuromuscular disease caused by qualitative or quantitative defects of plectin", "isLeaf": false, "isRoot": false, "parents": [ 16744, 24270 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0020437", "MEDGEN:1842345", "Orphanet:209196", "UMLS:C5680835" ], "synonyms": [ "PLEC-related muscular dystrophy-epidermolysis bullosa simplex spectrum disorder", "qualitative or quantitative defects of plectin" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "A neuromuscular disease caused by the qualitative or quantitative defects of plectin. It is characterized by muscular dystrophy." }, "child_count": 4, "reference_id": "MONDO:0016198" }, { "id": 16798, "label": "spastic quadriplegic cerebral palsy", "isLeaf": false, "isRoot": false, "parents": [ 2891, 24270 ], "type_id": 0, "properties": { "xrefs": [ "DOID:10970", "GARD:0017109", "ICD10CM:G80.0", "ICD9:343.2", "ICD9:344.09", "MEDGEN:98433", "NCIT:C116904", "OMIMPS:603513", "OMIMPS:612900", "Orphanet:210141", "SCTID:192965001", "UMLS:C0426970", "icd11.foundation:1155284708" ], "synonyms": [ "inherited congenital spastic quadriplegia", "quadriplegic infantile cerebral palsy", "spastic quadriplegia", "spastic quadriplegic cerebral palsy", "spastic tetraplegia cerebral palsy", "tetraplegic infantile cerebral palsy", "inherited congenital spastic tetraplegia" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "A type of spastic cerebral palsy characterized by increased muscle tone of all four extremities." }, "child_count": 6, "reference_id": "MONDO:0016215" }, { "id": 16849, "label": "congenital stationary night blindness", "isLeaf": false, "isRoot": false, "parents": [ 6383, 24270 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0050534", "DOID:8498", "GARD:0025068", "ICD9:368.61", "MEDGEN:83289", "MESH:C536122", "OMIMPS:310500", "Orphanet:215", "SCTID:193687000", "SCTID:232061009", "UMLS:C0339535", "icd11.foundation:122338861", "icd11.foundation:587494652" ], "synonyms": [ "Oguchi's disease", "congenital essential nyctalopia", "congenital night blindness", "hereditary night blindness", "night blindness, congenital stationary" ], "categories": [ { "ref": "MONDO:0002022", "name": "disorder of orbital region" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" }, { "ref": "MONDO:0024458", "name": "disorder of visual system" } ] }, "child_count": 28, "reference_id": "MONDO:0016293" }, { "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": 16885, "label": "congenital hydrocephalus", "isLeaf": false, "isRoot": false, "parents": [ 3395, 4427, 20383, 24270 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0006682", "ICD10CM:Q03", "ICD10WHO:Q03", "MEDGEN:9336", "MedDRA:10010506", "NANDO:2200822", "NCIT:C98876", "OMIMPS:236600", "Orphanet:2185", "SCTID:47032000", "UMLS:C0020256", "icd11.foundation:1878746673" ], "synonyms": [ "congenital hydrocephalus", "HYC3" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "Hydrocephalus that is present at birth." }, "child_count": 32, "reference_id": "MONDO:0016349" }, { "id": 16993, "label": "intracranial berry aneurysm", "isLeaf": false, "isRoot": false, "parents": [ 6985, 24270 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0060228", "GARD:0017161", "HP:0007029", "MEDGEN:825711", "OMIMPS:105800", "Orphanet:231160", "SCTID:703226008", "UMLS:C3839866", "icd11.foundation:59881644" ], "synonyms": [ "aneurysm, intracranial berry", "familial aneurysmal subarachnoid haemorrhage", "familial berry aneurysm", "familial intracranial saccular aneurysm", "familial cerebral saccular aneurysm" ], "categories": [ { "ref": "MONDO:0004995", "name": "cardiovascular disorder" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "An intracranial aneurysm with a characteristic rounded shape; the most common form of cerebral aneurysm." }, "child_count": 24, "reference_id": "MONDO:0016483" }, { "id": 17053, "label": "familial congenital mirror movements", "isLeaf": false, "isRoot": false, "parents": [ 4427, 7073, 24270 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0111153", "GARD:0012551", "MEDGEN:473166", "OMIMPS:157600", "Orphanet:238722", "SCTID:229247004", "UMLS:C0454455", "icd11.foundation:1966778637" ], "synonyms": [ "familial congenital controlateral synkinesia", "familial congenital mirror movements", "hereditary congenital controlateral synkinesia", "hereditary congenital mirror movements", "isolated congenital controlateral synkinesia", "isolated congenital mirror movements", "CMM", "bimanual synkinesis", "congenital mirror movement disorder", "congenital mirror movements" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "Congenital mirror movement disorder is a condition in which intentional movements of one side of the body are mirrored by involuntary movements of the other side. For example, when an affected individual makes a fist with the right hand, the left hand makes a similar movement. The mirror movements in this disorder primarily involve the upper limbs, especially the hands and fingers. This pattern of movements is present from infancy or early childhood and usually persists throughout life, without other associated signs and symptoms. Intelligence and lifespan are not affected." }, "child_count": 12, "reference_id": "MONDO:0016558" }, { "id": 17245, "label": "Moebius syndrome-axonal neuropathy-hypogonadotropic hypogonadism syndrome", "isLeaf": true, "isRoot": false, "parents": [ 9332, 16526, 24270 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0003698", "MEDGEN:419697", "MESH:C535806", "Orphanet:2560", "UMLS:C2931024" ], "synonyms": [ "Moebius axonal neuropathy hypogonadism", "Moebius syndrome with hypogonadotrophic hypogonadism and progressive peripheral neuropathy axonal and demyelinating type" ], "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" }, { "ref": "MONDO:0024458", "name": "disorder of visual system" } ], "definition": "This syndrome is characterized by the association of Moebius syndrome (congenital facial palsy with impaired ocular abduction) with peripheral axonal neuropathy and hypogonadotropic hypogonadism." }, "child_count": 0, "reference_id": "MONDO:0016819" }, { "id": 17246, "label": "Moyamoya disease", "isLeaf": false, "isRoot": false, "parents": [ 8158, 24270 ], "type_id": 0, "properties": { "xrefs": [ "DOID:13099", "GARD:0007064", "ICD10CM:I67.5", "MEDGEN:7726", "MESH:D009072", "MedDRA:10028047", "NANDO:1200183", "NANDO:2100228", "NANDO:2200850", "NCIT:C84895", "NORD:1457", "OMIMPS:252350", "Orphanet:2573", "SCTID:89142007", "UMLS:C0026654", "icd11.foundation:1746892088", "icd11.foundation:369231682" ], "synonyms": [ "idiopathic Moyamoya disease", "progressive intracranial arterial occlusion", "MYMY", "Moyamoya disease, primary", "Moyamoya disease, secondary" ], "categories": [ { "ref": "MONDO:0004995", "name": "cardiovascular disorder" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "Moyamoya disease (MMD) is a rare intracranial arteriopathy involving progressive stenosis of the cerebral vasculature located at the base of the brain causing transient ischemic attacks or strokes." }, "child_count": 16, "reference_id": "MONDO:0016820" }, { "id": 17572, "label": "familial Alzheimer-like prion disease", "isLeaf": true, "isRoot": false, "parents": [ 7097, 24270 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0021084", "MEDGEN:929151", "Orphanet:280397", "SCTID:721219005", "UMLS:C4303482", "icd11.foundation:1297025427" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ] }, "child_count": 0, "reference_id": "MONDO:0017233" }, { "id": 17636, "label": "phakomatosis pigmentokeratotica", "isLeaf": true, "isRoot": false, "parents": [ 3049, 6801, 19507, 23107, 23867, 24270 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0004311", "MEDGEN:419860", "MESH:C537893", "Orphanet:2874", "SCTID:723455009", "UMLS:C2931658", "icd11.foundation:960559196" ], "synonyms": [ "Phacomatosis pigmentokeratotica", "organoid nevus with sebaceous differentiation, a speckled-lentiginous nevus, and other associated anomalies" ], "categories": [ { "ref": "MONDO:0002051", "name": "integumentary system disorder" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "Phakomatosis pigmentokeratotica (PPK) is a very rare epidermal nevus disorder characterized by the association of speckled lentiginous nevi with epidermal sebaceous nevi, and extracutaneous anomalies." }, "child_count": 0, "reference_id": "MONDO:0017317" }, { "id": 17892, "label": "benign familial infantile epilepsy", "isLeaf": false, "isRoot": false, "parents": [ 16428, 24270 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0060169", "GARD:0000857", "ICD9:V17.2", "MEDGEN:1806836", "OMIMPS:601764", "Orphanet:306", "SCTID:230410004", "UMLS:C5575231", "icd11.foundation:1944845279" ], "synonyms": [ "BFIE", "BFIS", "benign familial infantile convulsions", "benign familial infantile seizures", "seizures, benign familial infantile" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "A genetic epileptic syndrome characterized by the occurrence of afebrile repeated seizures in healthy infants, between the third and eighth month of life." }, "child_count": 10, "reference_id": "MONDO:0017615" }, { "id": 17926, "label": "inborn aminoacylase deficiency", "isLeaf": false, "isRoot": false, "parents": [ 18954, 24270 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0021304", "MEDGEN:1842952", "Orphanet:308448", "UMLS:C5681074" ], "synonyms": [ "inborn aminoacylase activity disorder", "inborn error of aminoacylase activity", "rare inborn error of aminoacylase activity", "aminoacylase deficiency" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "An inherited metabolic disease that is has its basis in the disruption of aminoacylase activity." }, "child_count": 4, "reference_id": "MONDO:0017686" }, { "id": 17942, "label": "familial partial epilepsy", "isLeaf": false, "isRoot": false, "parents": [ 7064, 19725, 24270 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0002173", "MEDGEN:1826100", "Orphanet:309", "UMLS:C5680862" ], "synonyms": [ "familial focal epilepsy", "hereditary partial epilepsy", "epilepsy, partial, familial" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "An instance of partial epilepsy that is caused by an inherited modification of the individual's genome." }, "child_count": 21, "reference_id": "MONDO:0017704" }, { "id": 18043, "label": "familial isolated pituitary adenoma", "isLeaf": false, "isRoot": false, "parents": [ 7896, 21247, 24270 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0010959", "MEDGEN:436629", "OMIMPS:102200", "Orphanet:314777", "SCTID:702375004", "UMLS:C2676191" ], "synonyms": [ "FIPA" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0003900", "name": "connective tissue disorder" }, { "ref": "MONDO:0005039", "name": "reproductive system disorder" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" }, { "ref": "MONDO:0005151", "name": "endocrine system disorder" } ] }, "child_count": 18, "reference_id": "MONDO:0017824" }, { "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": 18304, "label": "hereditary retinoblastoma", "isLeaf": true, "isRoot": false, "parents": [ 2903, 9679, 16218, 24270 ], "type_id": 0, "properties": { "xrefs": [ "DOID:4648", "GARD:0017544", "MEDGEN:155869", "NCIT:C8495", "OMIM:180200", "Orphanet:357027", "UMLS:C0751483" ], "synonyms": [ "RB1", "RB1-related retinoblastoma predisposition", "familial retinoblastoma", "hereditary retinoblastoma", "retinoblastoma, autosomal dominant, somatic mutation", "retinoblastoma, trilateral, autosomal dominant, somatic mutation" ], "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": "An autosomal dominant disorder caused by pathogenic variants in the RB1 gene, characterized by an increased risk of retinoblastoma in early childhood. Individuals with hereditary retinoblastoma also have an increased risk of developing secondary cancers, such as osteosarcoma, melanoma and carcinomas in childhood and adulthood." }, "child_count": 0, "reference_id": "MONDO:0018160" }, { "id": 18378, "label": "familial syringomyelia", "isLeaf": true, "isRoot": false, "parents": [ 19959, 24270 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0021589", "MEDGEN:1842994", "Orphanet:370034", "UMLS:C5680970" ], "synonyms": [ "hereditary syringomyelia" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "An instance of syringomyelia that is caused by an inherited modification of the individual's genome." }, "child_count": 0, "reference_id": "MONDO:0018257" }, { "id": 18429, "label": "PrP systemic amyloidosis", "isLeaf": true, "isRoot": false, "parents": [ 7097, 24270 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0021632", "MEDGEN:1377371", "Orphanet:397606", "SCTID:733422008", "UMLS:C4518776" ], "synonyms": [ "chronic diarrhea with HSAN", "chronic diarrhea with hereditary sensory and autonomic neuropathy", "chronic diarrhoea with HSAN", "chronic diarrhoea with hereditary sensory and autonomic neuropathy", "prion protein systemic amyloidosis" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "Prion protein (PrP) systemic amyloidosis, previously known as chronic diarrhea with hereditary sensory and autonomic neuropathy is an extremely rare autosomal dominant disorder reported in three British families, a Japanese and an Italian family (about 16 cases in total). Onset is usually in the fourth decade of life and the course lasts about 20 years. Reported clinical manifestations include diarrhea, nausea, autonomic failure (areflexia, weakness), neurogenic bladder and urinary infections. The disorder is caused by truncation mutations of the prion protein gene PRNP (20p13) leading to deposition of prion protein amyloid." }, "child_count": 0, "reference_id": "MONDO:0018339" }, { "id": 18437, "label": "Prader-Willi-like syndrome", "isLeaf": false, "isRoot": false, "parents": [ 4427, 16088, 16526, 24270 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0021641", "MEDGEN:816207", "Orphanet:398073", "UMLS:C3809877" ], "synonyms": [ "PWS-like" ], "categories": [ { "ref": "MONDO:0005039", "name": "reproductive system disorder" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" }, { "ref": "MONDO:0005151", "name": "endocrine system disorder" } ], "definition": "Prader-Willi-like syndrome is a rare, genetic, endocrine disease characterized by manifestations of a Prader-Willi syndrome phenotype (including obesity, hyperphagia, hypotonia, psychomotor delay, intellectual disability, small hands/feet, hypogonadism, growth hormone deficiency and characteristic facial features) occurring in the absence of 15q11-q13 genomic abnormalities." }, "child_count": 12, "reference_id": "MONDO:0018354" }, { "id": 18517, "label": "bilirubin encephalopathy", "isLeaf": false, "isRoot": false, "parents": [ 7209, 17982, 24270 ], "type_id": 0, "properties": { "xrefs": [ "DOID:2382", "GARD:0006830", "ICD10CM:P57", "MEDGEN:44018", "MESH:D007647", "MedDRA:10023376", "NCIT:C84799", "Orphanet:415286", "SCTID:50143004", "UMLS:C0022610" ], "synonyms": [ "bilirubin encephalopathy", "kernicterus", "hyperbilirubinemic encephalopathy", "kernicterus spectrum disorder" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ] }, "child_count": 3, "reference_id": "MONDO:0018477" }, { "id": 18540, "label": "microcephaly-complex motor and sensory axonal neuropathy syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370, 24270 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0021762", "MEDGEN:1637079", "Orphanet:423894", "UMLS:C4706585" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "Microcephaly-complex motor and sensory axonal neuropathy syndrome is an extremely rare subtype of hereditary motor and sensory neuropathy characterized by severe, rapidly-progressing, distal, symmetric polyneuropathy and microcephaly (which can be evident in utero) with intact cognition. Clinically it presents with delayed motor development, hypotonia, absent or reduced deep tendon reflexes, progressive muscle wasting and weakness and scoliosis." }, "child_count": 0, "reference_id": "MONDO:0018507" }, { "id": 18615, "label": "undetermined early-onset epileptic encephalopathy", "isLeaf": false, "isRoot": false, "parents": [ 19084, 19723, 19724, 24270 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0015028", "MEDGEN:1826068", "Orphanet:442835", "UMLS:C5680057" ], "synonyms": [ "non-specific early-onset epileptic encephalopathy", "undetermined EOEE", "undetermined early-onset epileptic encephalopathy" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "A rare infantile epilepsy syndrome characterized by early onset of seizures of variable type and severity, potentially associated with a spectrum of clinical signs and symptoms including delay or lack of psychomotor development, intellectual disability, poor or absent speech development, behavioral abnormalities, hypotonia, movement disorders, spasticity, microcephaly, and dysmorphic facial features, among others. Brain imaging findings are also variable and may include cerebral atrophy or white matter abnormalities." }, "child_count": 64, "reference_id": "MONDO:0018614" }, { "id": 18673, "label": "congenital insensitivity to pain with severe intellectual disability", "isLeaf": true, "isRoot": false, "parents": [ 4427, 24270 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0021890", "MEDGEN:1814444", "Orphanet:453510", "UMLS:C5679994" ], "synonyms": [ "congenital absence of pain with severe intellectual disability", "congenital analgesia with severe intellectual disability", "congenital insensitivity to pain with preserved temperature sensation", "congenital insensitivity to pain with severe non-progressive cognitive delay" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ] }, "child_count": 0, "reference_id": "MONDO:0018682" }, { "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": 18769, "label": "familial schizencephaly", "isLeaf": true, "isRoot": false, "parents": [ 11205, 24270, 25047 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0017876", "MEDGEN:419186", "MESH:C538514", "Orphanet:481986", "UMLS:C2931870" ], "synonyms": [ "familial schizencephaly", "hereditary schizencephaly" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "An instance of schizencephaly that is caused by an inherited modification of the individual's genome." }, "child_count": 0, "reference_id": "MONDO:0018829" }, { "id": 18774, "label": "lissencephaly spectrum disorders", "isLeaf": false, "isRoot": false, "parents": [ 4427, 20383, 24270 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0050453", "GARD:0012291", "HP:0001339", "MEDGEN:78604", "MESH:D054082", "MedDRA:10048911", "NANDO:1200574", "NANDO:2200817", "NCIT:C103921", "NORD:1374", "OMIMPS:607432", "Orphanet:48471", "SCTID:204036008", "UMLS:C0266463" ], "synonyms": [ "Lissencephaly", "lissencephaly", "lissencephaly (disease)", "lissencephaly spectrum disorders", "Broad gyri of cerebrum", "large gyri of cerebrum", "macrogyria", "pachygyria" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "The term lissencephaly covers a group of rare malformations sharing the common feature of anomalies in the appearance of brain convolutions (characterized by simplification or absence of folding) associated with abnormal organization of the cortical layers as a result of neuronal migration defects during embryogenesis." }, "child_count": 42, "reference_id": "MONDO:0018838" }, { "id": 18807, "label": "Li-Fraumeni syndrome", "isLeaf": true, "isRoot": false, "parents": [ 2903, 16218, 24270 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0111503", "DOID:3012", "GARD:0006902", "ICD9:V84.01", "MEDGEN:88399", "MESH:D016864", "MedDRA:10066795", "NCIT:C3476", "NORD:1913", "OMIM:151623", "OMIM:609266", "Orphanet:524", "SCTID:428850001", "UMLS:C0085390", "icd11.foundation:1968061860" ], "synonyms": [ "LFS", "Li Fraumeni syndrome", "Li-Fraumeni familial cancer susceptibility syndrome", "Li-Fraumeni syndrome", "Li-Fraumeni syndrome caused by mutation in TP53", "SBLA syndrome", "TP53 Li-Fraumeni syndrome", "TP53-related Li-Fraumeni syndrome", "sarcoma, breast, leukemia and adrenal gland syndrome", "LFS1", "LFS3", "Li-Fraumeni-like syndrome", "SBLA syndrome (sarcoma, breast, leukemia, and adrenal gland)", "sarcoma family syndrome of 51 and Fraumeni", "sarcoma family syndrome of Li and Fraumeni" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "An autosomal dominant cancer predisposition disorder caused by pathogenic variants in the TP53 gene, characterized by an increased risk of a wide range of cancers, including but not limited to breast cancer, soft tissue sarcomas, osteosarcomas, brain tumors, adrenocortical carcinoma and leukemias." }, "child_count": 0, "reference_id": "MONDO:0018875" }, { "id": 18870, "label": "multiminicore myopathy", "isLeaf": false, "isRoot": false, "parents": [ 16783, 24270 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0080991", "GARD:0016536", "MEDGEN:75731", "NANDO:1200480", "NANDO:2200871", "Orphanet:598", "SCTID:55133004", "UMLS:C0270962" ], "synonyms": [ "MmD", "multicore disease", "multicore myopathy", "multiminicore disease" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "A hereditary neuromuscular disorder characterized by multiple cores on muscle biopsy and clinical features of a congenital myopathy." }, "child_count": 10, "reference_id": "MONDO:0018948" }, { "id": 18875, "label": "parietal foramina", "isLeaf": false, "isRoot": false, "parents": [ 18236, 18360, 24270 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0060285", "GARD:0016662", "HP:0002697", "MESH:C566826", "OMIMPS:168500", "Orphanet:60015", "SCTID:718099006", "icd11.foundation:905361904" ], "synonyms": [ "catlin marks", "enlarged parietal foramina", "fenestrae parietales symmetricae", "foramina parietalia permagna", "hereditary cranium bifidum", "parietal foramina", "symmetric parietal foramina" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "Enlarged parietal foramina (EPF) is a developmental defect, characterized by variable intramembranous ossification defects of the parietal bones, which is either asymptomatic, symptomatic (headaches, nausea, vomiting, intellectual disability) or associated with other pathologies." }, "child_count": 9, "reference_id": "MONDO:0018953" }, { "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": 19000, "label": "inherited retinal dystrophy", "isLeaf": false, "isRoot": false, "parents": [ 6377, 21402, 24270 ], "type_id": 0, "properties": { "xrefs": [ "DOID:8500", "DOID:8501", "GARD:0018916", "HP:0000556", "ICD10CM:H35.5", "ICD9:362.7", "ICD9:362.70", "ICD9:362.72", "ICD9:362.75", "MEDGEN:208903", "MESH:D058499", "MedDRA:10038857", "NCIT:C35194", "NCIT:C35625", "Orphanet:71862", "SCTID:314407005", "SCTID:41799005", "UMLS:C0854723" ], "synonyms": [ "fundus dystrophy", "familial retinal dystrophy", "genetic retinal dystrophy", "hereditary retinal degeneration", "hereditary retinal dystrophy", "inherited retinal dystrophy", "retinal dystrophy" ], "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": "An instance of retinal degeneration that is caused by an inherited modification of the individual's genome." }, "child_count": 315, "reference_id": "MONDO:0019118" }, { "id": 19067, "label": "folinic acid-responsive seizures", "isLeaf": true, "isRoot": false, "parents": [ 19114, 23787, 24270 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0018938", "MEDGEN:908191", "Orphanet:79097", "SCTID:717276003", "UMLS:C4273952", "icd11.foundation:723504178" ], "synonyms": [ "Folinic acid responsive seizures" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "A very rare neonatal epileptic encephalopathy disorder characterized clinically by myoclonic and clonic, or clonic seizures associated with apnea occurring several hours to 5 days after birth and responding to folinic acid." }, "child_count": 0, "reference_id": "MONDO:0019197" }, { "id": 19209, "label": "megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome", "isLeaf": false, "isRoot": false, "parents": [ 3395, 12458, 24020, 24270, 29234 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0010341", "MEDGEN:355095", "OMIMPS:603387", "Orphanet:83473", "SCTID:722036008", "UMLS:C1863924" ], "synonyms": [ "MPPH syndrome", "megalencephaly and perisylvian polymicrogyria with postaxial polydactyly and hydrocephalus", "megalencephaly, polymicrogyria, and hydrocephalus (MPPH) syndrome", "megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "Megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome is characterized by megalencephaly, polymicrogyria, and hydrocephalus with variable polydactyly. It has been described in six unrelated patients. Intellectual deficit or slow development is also present. The mode of inheritance of this syndrome is unknown since all cases were sporadic." }, "child_count": 15, "reference_id": "MONDO:0019375" }, { "id": 19315, "label": "nonsyndromic genetic hearing loss", "isLeaf": false, "isRoot": false, "parents": [ 7048, 22991, 24270 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0050563", "MEDGEN:1830101", "MESH:C580334", "Orphanet:87884", "UMLS:C5680182", "icd11.foundation:1154032108" ], "synonyms": [ "nonsyndromic deafness", "nonsyndromic hearing loss", "nonsyndromic genetic hearing loss", "familial deafness", "isolated genetic deafness", "non-syndromic genetic deafness", "nonsyndromic genetic deafness" ], "categories": [ { "ref": "MONDO:0002409", "name": "auditory system disorder" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "A disease characterized by hearing loss that is not part of a larger syndrome." }, "child_count": 18, "reference_id": "MONDO:0019497" }, { "id": 19726, "label": "progressive myoclonus epilepsy", "isLeaf": false, "isRoot": false, "parents": [ 24270, 24301, 25079 ], "type_id": 0, "properties": { "xrefs": [ "DOID:891", "GARD:0007140", "MEDGEN:199732", "MESH:D020191", "NANDO:1200953", "NANDO:2100237", "NCIT:C7636", "NORD:1617", "OMIMPS:254800", "Orphanet:98261", "SCTID:267581004", "UMLS:C0751778", "icd11.foundation:173613583" ], "synonyms": [ "PME", "epilepsy, progressive myoclonic", "progressive myoclonic epilepsy", "progressive myoclonic epilepsy (disorder) [ambiguous]", "progressive myoclonus epilepsy", "familial progressive myoclonic epilepsy" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "A rare group of disorders characterized by the development of myoclonic and tonic-clonic epileptic seizures associated with progressive degeneration of the nervous system." }, "child_count": 45, "reference_id": "MONDO:0020074" }, { "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": 19753, "label": "cerebral lipidosis with dementia", "isLeaf": false, "isRoot": false, "parents": [ 7209, 19108, 24270 ], "type_id": 0, "properties": { "xrefs": [ "DOID:10742", "GARD:0019491", "ICD9:330.1", "MEDGEN:1825994", "Orphanet:98544", "SCTID:16517004", "UMLS:C5681730" ], "synonyms": [ "cerebral lipidosis" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ] }, "child_count": 24, "reference_id": "MONDO:0020143" }, { "id": 19766, "label": "inherited vitreoretinopathy", "isLeaf": false, "isRoot": false, "parents": [ 6979, 24270 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0019539", "HP:0007773", "Orphanet:98668" ], "categories": [ { "ref": "MONDO:0002022", "name": "disorder of orbital region" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" }, { "ref": "MONDO:0024458", "name": "disorder of visual system" } ] }, "child_count": 10, "reference_id": "MONDO:0020246" }, { "id": 19808, "label": "periventricular nodular heterotopia", "isLeaf": false, "isRoot": false, "parents": [ 4427, 16848, 24270 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0050454", "GARD:0012724", "MEDGEN:358387", "MESH:D054091", "MedDRA:10066854", "NANDO:1201079", "OMIMPS:300049", "Orphanet:98892", "UMLS:C1868720", "icd11.foundation:20200096" ], "synonyms": [ "periventricular nodular heterotopia" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "Periventricular nodular heterotopia (PNH) is a brain malformation, due to abnormal neuronal migration, in which a subset of neurons fails to migrate into the developing cerebral cortex and remains as nodules that line the ventricular surface. Classical PNH is a rare X-linked dominant disorder far more frequent in females who present normal intelligence to borderline intellectual deficit, epilepsy of variable severity and extra-central nervous system signs, especially cardiovascular defects or coagulopathy. The disorder is generally associated with prenatal lethality in males." }, "child_count": 24, "reference_id": "MONDO:0020341" }, { "id": 19949, "label": "PEHO-like syndrome", "isLeaf": true, "isRoot": false, "parents": [ 24270 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0016911", "MEDGEN:337956", "OMIM:617507", "Orphanet:99807", "UMLS:C1850056" ], "synonyms": [ "PEHO syndrome-like", "peho-like syndrome", "progressive encephalopathy with edema, hypsarrhythmia, and optic atrophy-like syndrome", "PEHOL" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "PEHO-like syndrome is a rare, genetic neurological disease characterized by progressive encephalopathy, early-onset seizures with a hypsarrhythmic pattern, facial and limb edema, severe hypotonia, early arrest of psychomotor development and craniofacial dysmorphism (evolving microcephaly, narrow forehead, short nose, prominent auricles, open mouth, micrognathia), in the absence of neuro-ophthalmic or neuroradiologic findings. Poor visual responsiveness, growth failure and tapering fingers are also associated." }, "child_count": 0, "reference_id": "MONDO:0020495" }, { "id": 19950, "label": "familial porencephaly", "isLeaf": false, "isRoot": false, "parents": [ 12183, 17717, 24270 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0112313", "GARD:0002258", "MEDGEN:401353", "OMIMPS:175780", "Orphanet:99810", "UMLS:C1867983", "icd11.foundation:1833583032" ], "synonyms": [ "hereditary porencephaly", "familial porencephalic white matter disease" ], "categories": [ { "ref": "MONDO:0004995", "name": "cardiovascular disorder" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "An instance of porencephaly that is caused by an inherited modification of the individual's genome." }, "child_count": 21, "reference_id": "MONDO:0020496" }, { "id": 20169, "label": "X-linked deafness", "isLeaf": false, "isRoot": false, "parents": [ 2902, 7048, 22991, 24270 ], "type_id": 0, "properties": { "xrefs": [ "OMIMPS:304500" ], "synonyms": [ "DFNX", "X-linked deafness", "deafness, X-linked", "deafness, X-linked, DFN" ], "categories": [ { "ref": "MONDO:0002409", "name": "auditory system disorder" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ] }, "child_count": 8, "reference_id": "MONDO:0020768" }, { "id": 20265, "label": "hereditary progressive chorea without dementia", "isLeaf": true, "isRoot": false, "parents": [ 3794, 24245, 24270 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0025275", "MEDGEN:98278", "OMIM:118700", "UMLS:C0393584" ], "synonyms": [ "BHC", "chorea, benign hereditary", "chorea, hereditary benign", "hereditary progressive chorea without dementia", "BCH" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" }, { "ref": "MONDO:0005151", "name": "endocrine system disorder" } ] }, "child_count": 0, "reference_id": "MONDO:0021011" }, { "id": 20273, "label": "hereditary hyperekplexia", "isLeaf": false, "isRoot": false, "parents": [ 17915, 19114, 24270 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0060695", "GARD:0003129", "MEDGEN:904633", "OMIMPS:149400", "Orphanet:3197", "SCTID:724351008", "UMLS:C4084968", "icd11.foundation:988250063" ], "synonyms": [ "hyperekplexia", "Kok disease", "Stiff baby syndrome", "congenital stiff man syndrome", "familial startle disease", "hereditary hyperekplexia", "hereditary hyperexplexia", "hyperexplexia hereditary" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "Hereditary hyperekplexia is a hereditary neurological disorder characterized by excessive startle responses." }, "child_count": 15, "reference_id": "MONDO:0021022" }, { "id": 20303, "label": "neurofibromatosis", "isLeaf": false, "isRoot": false, "parents": [ 2903, 16218, 23107, 24270 ], "type_id": 0, "properties": { "xrefs": [ "DOID:8712", "EFO:0008514", "GARD:0010420", "ICD10CM:Q85.0", "ICD9:237.7", "ICD9:237.70", "ICDO:9540/1", "MEDGEN:58149", "MESH:D017253", "NANDO:1200225", "NANDO:1200226", "NANDO:1200227", "NANDO:2201003", "NCIT:C6727", "SCTID:19133005", "UMLS:C0162678" ], "synonyms": [ "Recklinghausen's neurofibromatosis", "acoustic neurofibromatosis", "central Neurofibromatosis", "neurofibromatosis", "neurofibromatosis syndrome", "peripheral Neurofibromatosis", "type IV neurofibromatosis of riccardi", "von Reklinghausen disease", "neurofibromatosis type 2", "neurofibromatosis type 4", "neurofibromatosis type IV" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "A hereditary neoplastic syndrome in which tumors grow in the nervous system. There are typically 3 main types recognized, but other forms with uncertain etiology exist." }, "child_count": 20, "reference_id": "MONDO:0021061" }, { "id": 20466, "label": "inherited orthostatic hypotension", "isLeaf": false, "isRoot": false, "parents": [ 16612, 24270 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0021878", "MEDGEN:1842591", "OMIMPS:223360", "Orphanet:448426", "UMLS:C5681106" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ] }, "child_count": 6, "reference_id": "MONDO:0021272" }, { "id": 20787, "label": "auditory neuropathy", "isLeaf": false, "isRoot": false, "parents": [ 7048, 22991, 24270 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0009274", "MEDGEN:338895", "MESH:C538268", "NCIT:C116364", "OMIMPS:609129", "SCTID:443805006", "UMLS:C1852271" ], "synonyms": [ "ANSD", "auditory dys-synchrony", "auditory neuropathy", "auditory neuropathy spectrum disorder", "familial auditory neuropathy", "progressive auditory neuropathy" ], "categories": [ { "ref": "MONDO:0002409", "name": "auditory system disorder" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "A hearing disorder characterized by impaired transmission of signals through the auditory nerve, resulting in mild to severe hearing loss and poor speech perception." }, "child_count": 15, "reference_id": "MONDO:0021944" }, { "id": 20852, "label": "retinal ciliopathy", "isLeaf": false, "isRoot": false, "parents": [ 6979, 7000, 24270 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0019987", "MEDGEN:1843204", "Orphanet:156165", "UMLS:C5680651" ], "categories": [ { "ref": "MONDO:0002022", "name": "disorder of orbital region" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" }, { "ref": "MONDO:0024458", "name": "disorder of visual system" } ] }, "child_count": 27, "reference_id": "MONDO:0022410" }, { "id": 20888, "label": "Behrens Baumann dust syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4515, 16704, 24270 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0004021", "MEDGEN:444092", "MESH:C537670", "UMLS:C2931582" ], "synonyms": [ "Behrens-Baumann-Vogel syndrome", "oculo-cerebral dysplasia", "microphthalmia-optic nerve dysplasia", "unilateral aplasia of the optic nerve with cryptophthalmus and contralateral microphthalmus" ], "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:0022557" }, { "id": 21188, "label": "inherited reflex epilepsy", "isLeaf": false, "isRoot": false, "parents": [ 17993, 24270 ], "type_id": 0, "properties": { "synonyms": [ "hereditary reflex epilepsy" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "An instance of reflex epilepsy that is caused by an inherited modification of the individual's genome." }, "child_count": 4, "reference_id": "MONDO:0023224" }, { "id": 21292, "label": "inherited neurodegenerative disorder", "isLeaf": false, "isRoot": false, "parents": [ 7208, 24270 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0020280", "MEDGEN:1825988", "MESH:D020271", "NCIT:C97073", "Orphanet:183500", "UMLS:C5680568" ], "synonyms": [ "genetic neurodegenerative disease", "hereditary neurodegenerative disease", "hereditary neurodegenerative disorder" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "An inherited disorder characterized by progressive degeneration and atrophy of the nervous system." }, "child_count": 164, "reference_id": "MONDO:0024237" }, { "id": 21511, "label": "febrile seizures, familial, 11", "isLeaf": true, "isRoot": false, "parents": [ 2708, 24270 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0111308", "GARD:0018283", "MEDGEN:482364", "OMIM:614418", "UMLS:C3280734" ], "synonyms": [ "febrile seizures, familial, 11", "FEB11", "convulsions, familial febrile, 11" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ] }, "child_count": 0, "reference_id": "MONDO:0024566" }, { "id": 22204, "label": "famililal cerebral cavernous malformations", "isLeaf": false, "isRoot": false, "parents": [ 3146, 24270 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0013641", "MEDGEN:419031", "OMIMPS:116860", "Orphanet:221061", "SCTID:717003001", "UMLS:C2931263" ], "synonyms": [ "familial brain cavernous angioma", "familial brain cavernous hemangioma", "familial cerebral cavernoma", "familial cerebral cavernous malformation", "famililal cerebral cavernous malformations", "hereditary brain cavernous angioma", "hereditary brain cavernous hemangioma", "hereditary cerebral cavernoma", "hereditary cerebral cavernous malformation", "CCM", "cavernous angioma, familial", "cavernous angiomatous malformations", "cavernous malformations of CNS and retina", "cerebral capillary malformations", "cerebral cavernous malformations", "hyperkeratotic cutaneous capillary-Venous malformations associated with cerebral capillary malformations" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "A rare evolutive vascular malformation disorder characterized by closely clustered irregular dilated capillaries that can be asymptomatic or that can cause variable neurological manifestations such as seizures, non-specific headaches, progressive or transient focal neurologic deficits, and/or cerebral hemorrhages." }, "child_count": 10, "reference_id": "MONDO:0031037" }, { "id": 22230, "label": "familial panic disorder", "isLeaf": false, "isRoot": false, "parents": [ 7063, 24270 ], "type_id": 0, "properties": { "xrefs": [ "OMIMPS:167870" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ] }, "child_count": 6, "reference_id": "MONDO:0031240" }, { "id": 22471, "label": "microangiopathy and leukoencephalopathy, pontine, autosomal dominant", "isLeaf": true, "isRoot": false, "parents": [ 12183, 24270, 25047 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0017855", "MEDGEN:1684781", "OMIM:618564", "Orphanet:477749", "UMLS:C5231411" ], "synonyms": [ "MICROANGIOPATHY AND LEUKOENCEPHALOPATHY, PONTINE, AUTOSOMAL DOMINANT", "PADMAL", "pontine autosomal dominant microangiopathy with leukoencephalopathy", "Dementia, Hereditary Multi-Infarct, Swedish Type" ], "categories": [ { "ref": "MONDO:0004995", "name": "cardiovascular disorder" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ] }, "child_count": 0, "reference_id": "MONDO:0032814" }, { "id": 22640, "label": "schizophrenia 19", "isLeaf": true, "isRoot": false, "parents": [ 6817, 24270 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0080281", "MEDGEN:1613937", "OMIM:617629", "UMLS:C4539944" ], "synonyms": [ "schizophrenia 19", "SCZD19", "schizophrenia 19 with or without an affective disorder", "schizophrenia 19, susceptibility to" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ] }, "child_count": 0, "reference_id": "MONDO:0033312" }, { "id": 22752, "label": "infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370, 7073, 24270 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0017962", "MEDGEN:1648431", "OMIM:618218", "Orphanet:522077", "UMLS:C4748715" ], "synonyms": [ "Baker-Gordon syndrome" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ] }, "child_count": 0, "reference_id": "MONDO:0033864" }, { "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": 22867, "label": "cathepsin a-related arteriopathy-strokes-leukoencephalopathy", "isLeaf": true, "isRoot": false, "parents": [ 12183, 24270 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0022320", "ICD10CM:I67.8", "MEDGEN:1804103", "Orphanet:575553", "UMLS:C5680354" ], "synonyms": [ "CARASAL" ], "categories": [ { "ref": "MONDO:0004995", "name": "cardiovascular disorder" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "A rare genetic cerebral small vessel disease characterized by an adult-onset primary microangiopathy with severe atherosclerosis of arterioles and secondary leukoencephalopathy. Patients may present with migraine, transient ischemic attacks, stroke with central facial palsy, cognitive dysfunction with impaired concentration, dementia, depression, movement disorder, vertigo, dysphagia, dysarthria, sicca syndrome, impaired REM sleep, and therapy-resistant hypertension, among others. Brain MRI typically shows a leukoencephalopathy that is disproportionately severe and extensive compared to the clinical disease." }, "child_count": 0, "reference_id": "MONDO:0035551" }, { "id": 22934, "label": "parkinsonism with polyneuropathy", "isLeaf": true, "isRoot": false, "parents": [ 20335, 24270 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0018028", "MEDGEN:1783451", "OMIM:619279", "Orphanet:611237", "UMLS:C5543299" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ] }, "child_count": 0, "reference_id": "MONDO:0036193" }, { "id": 23269, "label": "central nervous system lupus", "isLeaf": true, "isRoot": false, "parents": [ 2996, 9248, 24270 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0025875", "MEDGEN:156265", "MESH:D020945", "NCIT:C116919", "UMLS:C0752332" ], "synonyms": [ "CNS lupus", "central nervous system lupus", "Meningoencephalitides, lupus", "central nervous system lupus vasculitis", "central nervous system systemic lupus Erythematosis", "lupus Meningoencephalitides", "lupus meningoencephalitis", "meningoencephalitis, lupus", "neuropsychiatric systemic lupus erythematosus", "systemic lupus Erythematosis, central nervous system" ], "categories": [ { "ref": "MONDO:0003900", "name": "connective tissue disorder" }, { "ref": "MONDO:0005046", "name": "immune system disorder" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "Inflammation that includes the brain, spinal cord and surrounding tissues secondary to systemic lupus erythematosus (SLE); it is associated with neurological and/or psychiatric features." }, "child_count": 0, "reference_id": "MONDO:0043985" }, { "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": 23452, "label": "inherited dystonia", "isLeaf": false, "isRoot": false, "parents": [ 5367, 24270 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0021630", "MEDGEN:1842468", "NANDO:1200511", "NCIT:C35527", "OMIMPS:128100", "Orphanet:391799", "UMLS:C5680022" ], "synonyms": [ "familial dystonia", "hereditary dystonic disorder", "rare genetic dystonia", "rare genetic dystonic disorder" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "An instance of dystonic disorder that is caused by an inherited modification of the individual's genome." }, "child_count": 48, "reference_id": "MONDO:0044807" }, { "id": 23653, "label": "encephalopathy due to mitochondrial and peroxisomal fission defect", "isLeaf": false, "isRoot": false, "parents": [ 7209, 16918, 24014, 24270 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0022192", "MEDGEN:1814479", "OMIMPS:614388", "Orphanet:527276", "UMLS:C5681458" ], "synonyms": [ "encephalopathy due to defective mitochondrial and peroxisomal fission", "encephalopathy due to mitochondrial and peroxisomal fission defect" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "A rare mitochondrial disease characterized by a variable phenotype comprising delayed psychomotor development or neurodevelopmental regression, hypotonia, seizures, microcephaly, optic atrophy, pyramidal signs, and peripheral neuropathy, among others. Age of onset and disease severity are also variable with some cases taking a fatal course in early infancy. Serum lactate levels may be elevated. Reported brain imaging findings include abnormal signals in the basal ganglia, cerebral and/or cerebellar atrophy, and white matter abnormalities." }, "child_count": 8, "reference_id": "MONDO:0054865" }, { "id": 23836, "label": "alpha-actinopathy", "isLeaf": false, "isRoot": false, "parents": [ 4427, 16744, 19669, 24270 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0026038" ], "synonyms": [ "actin myopathy", "actinopathy", "ACTA1 disease", "alpha actinopathy", "alpha-actinopathy" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "A musculoskeletal system disorder that covers a wide spectrum of phenotypes and is caused by pathogenic variants in the skeletal muscle α-actin gene (ACTA1). These variants lead to a variety of overlapping adult onset and congenital myopathies characterized by muscle weakness, hypotonia, myopathic face, respiratory dysfunction, and rarely cardiac involvement. Specific skeletal muscle structural lesions visible on muscle biopsy include actin accumulations, nemaline and intranuclear bodies, fiber-type disproportion, cores, caps, dystrophic features and zebra bodies. Disorders associated with ACTA1 pathogenic variants can have autosomal dominant (90%) or recessive (10%) inheritance." }, "child_count": 16, "reference_id": "MONDO:0100084" }, { "id": 23849, "label": "dystonia, dopa-responsive, with or without hyperphenylalaninemia, autosomal recessive", "isLeaf": true, "isRoot": false, "parents": [ 17241, 23926, 24270 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0026046" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "A dopa-responsive dystonia characterized by marked motor delay, but no intellectual disability, and only minimal, if any, hyperphenylalaninemia." }, "child_count": 0, "reference_id": "MONDO:0100098" }, { "id": 23858, "label": "TPM3-related myopathy", "isLeaf": false, "isRoot": false, "parents": [ 4427, 17624, 19669, 24270 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0026050" ], "synonyms": [ "TPM3 myopathy", "TPM3-related myopathy", "congenital myopathy related to TPM3", "autosomal dominant TPM3-related myopathy" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "TPM3-related myopathy is a disorder of the musculoskeletal system that covers a wide spectrum of phenotypes and is caused by pathogenic variants in the skeletal muscle γ-Tropomyosin gene. These variants lead to a variety of overlapping adult onset and congenital myopathies characterized by muscle weakness, hypotonia, motor delay, myopathic facies, scoliosis, and sometimes respiratory involvement. Histologic findings on skeletal muscle biopsy are variable with nemaline and intranuclear bodies, cap-like lesions, fiber-type disproportion, and dystrophic features even in patients with the same mutation." }, "child_count": 12, "reference_id": "MONDO:0100108" }, { "id": 23887, "label": "Uner Tan Syndrome", "isLeaf": true, "isRoot": false, "parents": [ 7611, 23895, 24270 ], "type_id": 0, "properties": { "synonyms": [ "recessive quadrupedalism" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "A tubulinopathy with material basis in TUBB2B that is characterized by variations in R390Q, quadrupedal locomotion, cerebellar hypoplasia and does not have basal ganglia malformations." }, "child_count": 0, "reference_id": "MONDO:0100144" }, { "id": 23896, "label": "TUBB3-related tubulinopathy", "isLeaf": false, "isRoot": false, "parents": [ 23895, 24270 ], "type_id": 0, "properties": { "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "A tubulinopathy syndrome associated with malformations of cortical development, axon guidance defects, white matter abnormalities, and/or congenital fibrosis of the extraocular muscles (CFEOM), due to de novo or dominantly inherited variants with high penetrance. Individuals may present with variable combinations of malformations of cortical development, dysplasia of the basal ganglia, brainstem, and/or cerebellum, CFEOM, additional cranial nerve involvement, Kallmann syndrome, cyclic vomiting, peripheral neuropathy, and/or contractures. Developmental delays, intellectual disability, ocular motor apraxia, and mirror movements are also frequent features." }, "child_count": 2, "reference_id": "MONDO:0100154" }, { "id": 23917, "label": "TTN-related myopathy", "isLeaf": false, "isRoot": false, "parents": [ 4427, 16778, 19669, 24270 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0026073" ], "synonyms": [ "TTN myopathy", "congenital myopathy related to TTN" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "A disorder of the musculoskeletal system caused by pathogenic variants in the TTN gene encoding the titin protein expressed in striated muscle. These variants are associated with a variety of overlapping congenital and adult-onset myopathies characterized by non-progressive or progressive neck, axial, and limb weakness, joint contractures, early-onset respiratory insufficiency, facial weakness, congenital cardiac anomalies and/or early-onset dilated cardiomyopathy. Histologic findings on skeletal muscle biopsy reveal a wide range of structural abnormalities and can include increased internalized and central nuclei, minicores, and dystrophic changes." }, "child_count": 8, "reference_id": "MONDO:0100175" }, { "id": 23937, "label": "TPM2-related myopathy", "isLeaf": false, "isRoot": false, "parents": [ 4427, 17624, 19669, 24270 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0026079" ], "synonyms": [ "TPM2 myopathy", "TPM2-related myopathy", "autosomal dominant TPM2-related myopathy", "congenital myopathy related to TPM2" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "A congenital myopathy of the musculoskeletal system that covers a wide spectrum of phenotypes and is caused by pathogenic variants in the skeletal muscle beta-Tropomyosin gene. These variants lead to a variety of overlapping adult onset and congenital myopathies characterized by muscle weakness, amyotrophy, hypotonia, myopathic facies, scoliosis, and sometimes contractures among other phenotypes. Histologic findings on skeletal muscle biopsy are variable with nemaline and intranuclear bodies, cap-like lesions, core-like lesions, fiber-type disproportion, and dystrophic features all observed to some degree." }, "child_count": 8, "reference_id": "MONDO:0100196" }, { "id": 23970, "label": "fatty acyl-CoA reductase 1 upregulation", "isLeaf": true, "isRoot": false, "parents": [ 2903, 24013, 24270 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0026090" ], "synonyms": [ "FAR1 upregulation", "fatty acyl-CoA reductase 1 upregulation" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "A disorder of plasmalogens biosynthesis, that is an autosomal dominant neurological disorder that results in uncontrolled synthesis of ether lipids." }, "child_count": 0, "reference_id": "MONDO:0100230" }, { "id": 24045, "label": "hereditary ataxia", "isLeaf": false, "isRoot": false, "parents": [ 24044, 24270 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0050951", "EFO:0009671", "GARD:0020286", "ICD10CM:G11", "ICD10WHO:G11", "MEDGEN:2478", "MESH:C531684", "Orphanet:183518", "SCTID:763597000", "UMLS:C0004138", "icd11.foundation:442347652" ], "synonyms": [ "rare hereditary ataxia", "SCA" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "An instance of an atactic disorder that is caused by an inherited genomic modification in an individual." }, "child_count": 40, "reference_id": "MONDO:0100309" }, { "id": 24204, "label": "brain malformations with or without urinary tract defects", "isLeaf": true, "isRoot": false, "parents": [ 7209, 24270 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0027998", "MEDGEN:1392440", "OMIM:613735", "UMLS:C4478940" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "A brain disorder caused by pathogenic variants in NFIA that is characterized by developmental delay, corpus callosum agenesis/hypoplasia and craniofacial dysmorphism, such as macrocephaly (caused by hydrocephalus or ventriculomegaly), low-set ears, anteverted nostrils and micrognathia. Urinary tract defects (e.g. vesicoureteral reflux, urinary incontinence) are also frequently associated. Other reported variable manifestations include hypotonia, tethered spinal cord, Chiari type I malformation and seizures." }, "child_count": 0, "reference_id": "MONDO:0100478" }, { "id": 24226, "label": "Mendelian neurodevelopmental disorder", "isLeaf": false, "isRoot": false, "parents": [ 24270, 24488 ], "type_id": 0, "properties": { "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "A neurodevelopmental disorder that is caused by genetic modifications where those modifications are inherited from a parent's genome." }, "child_count": 550, "reference_id": "MONDO:0100500" }, { "id": 24248, "label": "SPAST-related motor disorder", "isLeaf": false, "isRoot": false, "parents": [ 4657, 24270 ], "type_id": 0, "properties": { "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "Heterozygous variants in SPAST have been reported in relation to pure spastic paraplegias (infantile, ascending), complicated or complex spastic paraplegia (with dementia, cerebellar ataxia, epilepsy, and/or peripheral neuropathy) and cerebral palsy. Age of symptom onset ranges from neonatal to advanced age with varying symptom severity," }, "child_count": 2, "reference_id": "MONDO:0100523" }, { "id": 24271, "label": "hereditary neuromuscular disease", "isLeaf": false, "isRoot": false, "parents": [ 18957, 24270 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0026275" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "A heterogeneous group of genetic conditions with Mendelian (autosomal dominant, recessive, or X-linked) or chromosomal etiology that is characterized by progressive muscle degeneration and weakness." }, "child_count": 44, "reference_id": "MONDO:0100546" }, { "id": 24273, "label": "SERAC1-related neurological disorder", "isLeaf": false, "isRoot": false, "parents": [ 24270 ], "type_id": 0, "properties": { "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "Any neurological disorder in which the cause of the disease is a mutation in the SERAC1 gene." }, "child_count": 1, "reference_id": "MONDO:0100548" }, { "id": 24281, "label": "PRRT2-associated paroxysmal movement disorder", "isLeaf": false, "isRoot": false, "parents": [ 7073, 24270 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0028000" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "A group of rare movement and seizure disorders caused by changes (disease-causing variants or mutations) in the PRRT2 gene. They include a spectrum of specific disorders including paroxysmal kinesigenic dyskinesia (PKD), benign familial infantile epilepsy (BFIE), paroxysmal kinesigenic dyskinesia with infantile convulsions (PKD/IC) and hemiplegic migraine (HM). In addition, PRRT2 pathogenic variants have been identified in other childhood-onset movement disorders and different types of seizure conditions, such as paroxysmal torticollis, episodic ataxia and familial paroxysmal non-kinesigenic dyskinesia. It’s important to note that these disorders can also have different genetic causes." }, "child_count": 6, "reference_id": "MONDO:0100556" }, { "id": 24300, "label": "hereditary generalized epilepsy", "isLeaf": false, "isRoot": false, "parents": [ 24270, 24299 ], "type_id": 0, "properties": { "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "An instance of generalized epilepsy that is caused by an inherited genomic modification in an individual." }, "child_count": 4, "reference_id": "MONDO:0100576" }, { "id": 24338, "label": "VPS11-related neurological disorder", "isLeaf": false, "isRoot": false, "parents": [ 24270 ], "type_id": 0, "properties": { "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "Any neurological disorder in which the cause of the disease is a mutation in the VPS11 gene." }, "child_count": 2, "reference_id": "MONDO:0100617" }, { "id": 24348, "label": "KIF5A-related neurological disorder", "isLeaf": false, "isRoot": false, "parents": [ 24270 ], "type_id": 0, "properties": { "synonyms": [ "KIF5A-RD", "KIF5A-related disorder", "kinesin family member 5A (KIF5A)-related disorder" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "Any nervous system disorder in which the cause of the disease is a variation in the KIF5A gene." }, "child_count": 3, "reference_id": "MONDO:0100629" }, { "id": 24400, "label": "ATP1A3-associated neurological disorder", "isLeaf": false, "isRoot": false, "parents": [ 24270 ], "type_id": 0, "properties": { "synonyms": [ "ATP1A3 neurological disorder", "ATP1A3 related neurological disorder", "neurological disorder caused by mutation in ATP1A3" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "Any neurological disorder in which the cause of the disease is a mutation in the ATP1A3." }, "child_count": 4, "reference_id": "MONDO:0700002" }, { "id": 24464, "label": "myopathy caused by variation in POMGNT1", "isLeaf": false, "isRoot": false, "parents": [ 4427, 7023, 17974, 24270, 24618 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0026341" ], "synonyms": [ "POMGNT1 myopathy", "POMGNT1-related myopathy", "myopathy caused by mutation in POMGNT1" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "Any myopathy in which the cause of the disease is a variation in the POMGNT1 gene." }, "child_count": 15, "reference_id": "MONDO:0700068" }, { "id": 24512, "label": "SLC6A3-related dopamine transporter deficiency syndrome", "isLeaf": false, "isRoot": false, "parents": [ 7073, 24270 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0070487", "GARD:0026363" ], "synonyms": [ "DTDS", "Dopamine transporter deficiency syndrome" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "A complex movement disorder characterized by tremor, rigidity, bradykinesia, chorea, reduced facial expression, and Parkinsonism-dystonia. This disease is caused by loss of function variants in the SLC6A3 gene, which impair the dopamine transporter protein. The onset of this disease ranges from infancy to adulthood." }, "child_count": 4, "reference_id": "MONDO:0700117" }, { "id": 24781, "label": "central hypoventilation syndrome, congenital, 1, with or without Hirschsprung disease", "isLeaf": true, "isRoot": false, "parents": [ 3525, 4370, 4427, 20691, 24270, 24785 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0060731", "GARD:0008535", "MEDGEN:1794285", "MedDRA:10007982", "MedDRA:10066131", "NCIT:C98889", "OMIM:209880", "Orphanet:661", "SCTID:230499002", "UMLS:C5562075", "icd11.foundation:1750742010" ], "synonyms": [ "CCHS", "Ondine curse", "Ondine curse, congenital", "Ondine syndrome", "autonomic control, congenital failure of", "congenital Ondine curse", "congenital central alveolar hypoventilation syndrome", "congenital central hypoventilation", "congenital central hypoventilation syndrome", "CCHS with Hirschsprung disease", "Haddad syndrome", "Ondine curse (formerly)", "Ondine's curse (formerly)", "Ondine-Hirschsprung disease", "central hypoventilation syndrome, congenital", "congenital failure of autonomic control", "idiopathic congenital central alveolar hypoventilation", "primary alveolar hypoventilation" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "A rare disease due to a severely impaired central autonomic control of breathing and dysfunction of the autonomous nervous system. The incidence is estimated to be at 1 of 200 000 livebirths. A heterozygous mutation of PHOX-2B gene is found in 90% of the patients. Association with a Hirschsprung's disease is observed in 16% of the cases. Despite a high mortality rate and a lifelong dependence to mechanical ventilation, the long-term outcome of CCHS should be ultimately improved by multidisciplinary and coordinated follow-up of the patients." }, "child_count": 0, "reference_id": "MONDO:0800026" }, { "id": 24783, "label": "dyskinesia with orofacial involvement, autosomal dominant", "isLeaf": true, "isRoot": false, "parents": [ 7073, 22222, 24270 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0012722", "MEDGEN:338280", "MESH:C564676", "OMIM:606703", "Orphanet:324588", "SCTID:763352005", "UMLS:C1847627" ], "synonyms": [ "FDFM", "dyskinesia, familial, with facial myokymia", "ADCY5-related dyskinesia" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "A rare paroxysmal movement disorder, with childhood or adolescent onset, characterized by paroxysmal choreiform, dystonic, and myoclonic movements involving the limbs (mostly distal upper limbs), neck and/or face, which can progressively increase in both frequency and severity until they become nearly constant. Patients may also present with delayed motor milestones, perioral and periorbital dyskinesias, dysarthria, hypotonia, and weakness." }, "child_count": 0, "reference_id": "MONDO:0800028" }, { "id": 24875, "label": "PAX6-related ocular dysgenesis", "isLeaf": false, "isRoot": false, "parents": [ 4546, 5006, 24259, 24270 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0026474" ], "categories": [ { "ref": "MONDO:0002022", "name": "disorder of orbital region" }, { "ref": "MONDO:0002118", "name": "urinary system disorder" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" }, { "ref": "MONDO:0024458", "name": "disorder of visual system" } ], "definition": "Any eye disorder in which the cause of the disease is a mutation in the PAX6 gene." }, "child_count": 8, "reference_id": "MONDO:0800183" }, { "id": 25337, "label": "neuroocular syndrome", "isLeaf": false, "isRoot": false, "parents": [ 7019, 24270 ], "type_id": 0, "properties": { "xrefs": [ "MEDGEN:1790414", "OMIMPS:619539", "UMLS:C5551362" ], "categories": [ { "ref": "MONDO:0002022", "name": "disorder of orbital region" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" }, { "ref": "MONDO:0024458", "name": "disorder of visual system" } ] }, "child_count": 4, "reference_id": "MONDO:0859193" }, { "id": 25510, "label": "epilepsy, X-linked, with or without impaired intellectual development and dysmorphic features", "isLeaf": false, "isRoot": false, "parents": [ 16437, 24270 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0026729", "OMIMPS:300491" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ] }, "child_count": 4, "reference_id": "MONDO:0859390" }, { "id": 26110, "label": "encephalopathy, acute transient", "isLeaf": true, "isRoot": false, "parents": [ 7209, 24270 ], "type_id": 0, "properties": { "xrefs": [ "MEDGEN:1874927", "OMIM:620950", "UMLS:C5975397" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ] }, "child_count": 0, "reference_id": "MONDO:0975801" }, { "id": 26221, "label": "LSM7-related leukodystrophy and cerebellar atrophy", "isLeaf": true, "isRoot": false, "parents": [ 24270 ], "type_id": 0, "properties": { "xrefs": [ "MEDGEN:1876463", "OMIM:621191", "UMLS:C6012719" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ] }, "child_count": 0, "reference_id": "MONDO:0978294" }, { "id": 26332, "label": "infection-induced acute-onset axonal neuropathy", "isLeaf": true, "isRoot": false, "parents": [ 20718, 24270 ], "type_id": 0, "properties": { "xrefs": [ "OMIM:621333" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ] }, "child_count": 0, "reference_id": "MONDO:0979881" }, { "id": 26347, "label": "Valence-Farazi cerebellar ataxia syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370, 24270 ], "type_id": 0, "properties": { "xrefs": [ "OMIM:621386" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ] }, "child_count": 0, "reference_id": "MONDO:0980707" }, { "id": 26519, "label": "DHDDS-related syndrome", "isLeaf": false, "isRoot": false, "parents": [ 24270 ], "type_id": 0, "properties": { "synonyms": [ "progressive myoclonus ataxia" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "Any neurological disorder in which the cause of the disease is a mutation in the DHDDS gene." }, "child_count": 2, "reference_id": "MONDO:1010097" } ], "roots": [ { "id": 5714, "label": "hereditary disease" }, { "id": 6799, "label": "nervous system disorder" } ] }