{ "id": 16607, "label": "syndromic dyslipidemia", "model": { "label": "Mondo Disease Ontology (MONDO)", "source": 0 }, "type_id": 0, "reference_id": "MONDO:0015905", "properties": { "xrefs": [ "GARD:0020232", "MEDGEN:1826171", "Orphanet:181437", "SCTID:109041000119107", "UMLS:C5680608" ], "synonyms": [ "complex dyslipidaemia", "complex dyslipidemia", "syndrome associated with inherited lipid metabolism disorder", "syndromic inherited lipid metabolism disorder", "rare syndromic dyslipidaemia", "rare syndromic dyslipidemia" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "A inherited lipid metabolism disorder that is part of a larger syndrome." }, "isLeaf": false, "isRoot": false, "child_count": 29, "parents": [ { "id": 4370, "label": "syndromic disease", "isLeaf": false, "isRoot": false, "parents": [ 29379 ], "type_id": 0, "properties": { "xrefs": [ "DOID:225", "MEDGEN:11688", "MESH:D013577", "NCIT:C28193", "OGMS:0000086", "UMLS:C0039082" ], "synonyms": [ "cluster, symptom", "clusters, symptom", "symptom cluster", "symptom clusters", "syndrome", "syndrome associated with disease or disorder", "syndromes", "syndromic disease", "syndromic disease or disorder" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "A group of signs, symptoms, and clinicopathological characteristics that may or may not have a genetic basis and collectively define an abnormal condition." }, "child_count": 1182, "reference_id": "MONDO:0002254" }, { "id": 4594, "label": "inherited lipid metabolism disorder", "isLeaf": false, "isRoot": false, "parents": [ 18954 ], "type_id": 0, "properties": { "xrefs": [ "DOID:3146", "GARD:0021314", "ICD9:272.8", "ICD9:272.9", "MEDGEN:57587", "MedDRA:10061227", "NCIT:C97092", "Orphanet:309005", "SCTID:267431006", "SCTID:402788005", "UMLS:C0154251" ], "synonyms": [ "disorder of lipid metabolism", "dyslipidaemia", "dyslipidemia", "lipid metabolism disorder", "fatty acid metabolism disorder" ], "definition": "An inherited metabolic disorder caused by an enzyme deficiency, resulting in an inability to oxidize fatty acids for energy production." }, "child_count": 29, "reference_id": "MONDO:0002525" } ], "children": [ { "id": 10078, "label": "familial apolipoprotein C-II deficiency", "isLeaf": true, "isRoot": false, "parents": [ 3564, 16607, 18634 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0111418", "GARD:0000759", "MEDGEN:328375", "OMIM:207750", "Orphanet:309020", "SCTID:33513003", "UMLS:C1720779", "icd11.foundation:877401371" ], "synonyms": [ "familial apoC-II deficiency", "familial apolipoprotein C-II deficiency", "hyperlipoproteinemia, type IB", "Apoc2 deficiency", "C-II Anapolipoproteinemia", "apolipoprotein C-II deficiency", "hyperlipoproteinemia, type 1B" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ] }, "child_count": 0, "reference_id": "MONDO:0008810" }, { "id": 10128, "label": "sitosterolemia", "isLeaf": false, "isRoot": false, "parents": [ 16607 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0090019", "GARD:0007653", "MEDGEN:87466", "MESH:C537345", "MedDRA:10063985", "NANDO:1200853", "NCIT:C125694", "NORD:1911", "OMIMPS:210250", "OMIMPS:215250", "Orphanet:101022", "Orphanet:2882", "SCTID:238104009", "UMLS:C0342907" ], "synonyms": [ "phytosterolemia", "sitosterolemia", "STSL", "macrothrombocytopenia/stomatocytosis, Mediterranean", "plant sterol storage disease", "retention of dietary cholesterol and abnormal retention of non-cholesterol sterols in the body" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "A rare autosomal recessive sterol storage disease characterized by the accumulation of phytosterols in the blood and tissues. Clinical manifestations include xanthomas, arthralgia and premature atherosclerosis. Hematological manifestations include hemolytic anemia with stomatocytosis and macrothrombocytopenia. The disease is caused by homozygous or compound heterozygous mutations in ABCG5 (2p21) and ABCG8 (2p21) genes." }, "child_count": 2, "reference_id": "MONDO:0008863" }, { "id": 10208, "label": "cerebrotendinous xanthomatosis", "isLeaf": true, "isRoot": false, "parents": [ 4666, 7019, 16607, 18952, 19085, 19144, 19712, 19748, 19753, 23512 ], "type_id": 0, "properties": { "xrefs": [ "DOID:4810", "GARD:0005622", "MEDGEN:116041", "MESH:D019294", "NANDO:1200856", "NCIT:C84628", "NORD:915", "OMIM:213700", "Orphanet:909", "SCTID:63246000", "UMLS:C0238052", "icd11.foundation:1556875179" ], "synonyms": [ "CTX", "CTx", "cerebrotendinous xanthomatosis", "cholestanol storage disease", "sterol 27-hydroxylase deficiency", "cerebral cholesterinosis" ], "categories": [ { "ref": "MONDO:0002022", "name": "disorder of orbital region" }, { "ref": "MONDO:0002051", "name": "integumentary system disorder" }, { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" }, { "ref": "MONDO:0024458", "name": "disorder of visual system" } ], "definition": "Cerebrotendinous xanthomatosis (CTX) is an anomaly of bile acid synthesis characterized by neonatal cholestasis, childhood-onset cataract, adolescent to young adult-onset tendon xanthomata, and brain xanthomata with adult-onset neurologic dysfunction." }, "child_count": 0, "reference_id": "MONDO:0008948" }, { "id": 10230, "label": "rhizomelic chondrodysplasia punctata type 1", "isLeaf": true, "isRoot": false, "parents": [ 16532, 16607, 24010 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0110851", "GARD:0006049", "MEDGEN:347072", "NANDO:1200763", "OMIM:215100", "Orphanet:309789", "UMLS:C1859133", "icd11.foundation:44503513" ], "synonyms": [ "PBD9", "PEX7 rhizomelic chondrodysplasia punctata", "Pbd9", "RCDP1", "Rcdp1", "peroxisome biogenesis disorder 9", "rhizomelic chondrodysplasia punctata caused by mutation in PEX7", "rhizomelic chondrodysplasia punctata type 1", "rhizomelic chondrodysplasia punctata, type 1", "chondrodysplasia punctata, rhizomelic form", "chondrodystrophia calcificans punctata" ], "categories": [ { "ref": "MONDO:0002022", "name": "disorder of orbital region" }, { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" }, { "ref": "MONDO:0024458", "name": "disorder of visual system" } ], "definition": "A condition that impairs the normal development of many parts of the body. The major features of this disorder include skeletal abnormalities, distinctive facial features, intellectual disability, and respiratory problems. The condition is caused by mutations in the PEX7 gene. It is inherited in an autosomal recessive pattern. Rhizomelic chondrodysplasia punctata type 1 is one of five types of rhizomelic chondrodysplasia punctata. The types have similar features and are distinguished by their genetic cause." }, "child_count": 0, "reference_id": "MONDO:0008972" }, { "id": 10277, "label": "apparent mineralocorticoid excess", "isLeaf": true, "isRoot": false, "parents": [ 7151, 7177, 16607 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0090121", "DOID:4367", "GARD:0000433", "ICD9:255.3", "MEDGEN:90983", "MESH:C537422", "MESH:D043204", "NANDO:2100130", "NANDO:2200362", "NCIT:C123231", "NCIT:C131083", "OMIM:218030", "Orphanet:320", "SCTID:237770005", "SCTID:703256004", "UMLS:C0342488", "icd11.foundation:1737310323" ], "synonyms": [ "11 Beta-hydroxysteroid dehydrogenase type 2 deficiency", "11-beta-hydroxysteroid dehydrogenase deficiency type 2", "APE", "Ulick syndrome", "apparent mineralocorticoid excess", "apparent mineralocorticoid excess syndrome", "cortisol 11-beta-ketoreductase deficiency", "syndrome of apparent mineralocorticoid Excess", "AME", "AME 1", "Ame1", "apparent mineralocorticoid EXCESS", "cortisol 11-Beta-ketoreductase deficiency" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0005151", "name": "endocrine system disorder" } ], "definition": "Apparent mineralocorticoid excess (AME) is a rare form of pseudohyperaldosteronism characterized by very early-onset and severe hypertension, associated with low renin levels and hypoaldosteronism." }, "child_count": 0, "reference_id": "MONDO:0009025" }, { "id": 10501, "label": "GM1 gangliosidosis type 1", "isLeaf": true, "isRoot": false, "parents": [ 16607, 18294, 24806 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0080502", "GARD:0006479", "MEDGEN:75665", "NANDO:1200067", "NANDO:2201196", "OMIM:230500", "Orphanet:79255", "SCTID:238026007", "UMLS:C0268271", "icd11.foundation:466200180" ], "synonyms": [ "Norman-Landing disease", "infantile GM1 gangliosidosis", "Beta galactosidase deficiency type 1", "Beta-galactosidase-1 deficiency", "GLB deficiency type 1", "GM1-gangliosidosis, type 1", "GM1-gangliosidosis, type I", "GM1-gangliosidosis, type I, with Cardiac involvement", "Glb1 deficiency", "gangliosidosis generalised GM1 infantile form", "gangliosidosis generalised GM1 type 1", "gangliosidosis generalized GM1 infantile form", "gangliosidosis generalized GM1 type 1", "gangliosidosis, generalised GM1, infantile form", "gangliosidosis, generalised GM1, type 1", "gangliosidosis, generalised GM1, type I, with Cardiac involvement", "gangliosidosis, generalized GM1, infantile form", "gangliosidosis, generalized GM1, type 1", "gangliosidosis, generalized GM1, type I, with Cardiac involvement" ], "categories": [ { "ref": "MONDO:0002022", "name": "disorder of orbital region" }, { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0024458", "name": "disorder of visual system" } ], "definition": "GM1 gangliosidosis type 1 is the severe infantile form of GM1 gangliosidosis with variable neurological and systemic manifestations." }, "child_count": 0, "reference_id": "MONDO:0009260" }, { "id": 10619, "label": "familial lipoprotein lipase deficiency", "isLeaf": true, "isRoot": false, "parents": [ 3564, 16607, 18634, 22978 ], "type_id": 0, "properties": { "xrefs": [ "DOID:14118", "GARD:0012241", "ICD9:272.3", "MEDGEN:7352", "MESH:D008072", "NCIT:C84771", "NORD:1129", "OMIM:238600", "Orphanet:309015", "SCTID:275598004", "UMLS:C0023817", "icd11.foundation:1829539217" ], "synonyms": [ "familial chylomicronemia syndrome", "hyperlipoproteinemia type I", "hyperlipoproteinemia, type 1", "hyperlipoproteinemia, type I", "type I hyperlipoproteinemia", "LPL deficiency", "familial lipoprotein lipase deficiency (disorder) [ambiguous]", "familial lipoprotein lipase deficiency with type I phenotype", "high density lipoprotein cholesterol level QTL 11", "hyperchylomicronemia", "Burger-Grutz syndrome", "chylomicronemia, familial", "endogenous hypertriglyceridaemia", "familial fat-induced hypertriglyceridemia", "familial hyperchylomicronemia", "hyperchylomicronemia, familial", "hyperlipemia, essential familial", "hyperlipemia, idiopathic, Burger-Grutz type", "hyperlipoproteinemia, type 1A", "lipase D deficiency", "lipd deficiency", "lipoprotein lipase deficiency", "lipoprotein lipase deficiency, familial" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "Familial lipoprotein lipase deficiency is a rare genetic disorder is which a person lacks the enzyme lipoprotein lipase, a protein needed to break down fat molecules. Deficiency of this enzyme prevents affected individuals from properly digesting certain fats. This results in the accumulation of fatty droplets called chylomicrons in the blood and an increase in the blood concentration of triglycerides. Symptoms include episodes of abdominal pain, recurrent inflammation of the pancreas (pancreatitis), abnormal enlargement of the liver and/or spleen (hepatosplenomegaly), and the development of skin lesions known as erruptive xanthomas. Familial lipoprotein lipase deficiency is caused by changes (mutations) in the LPL gene. It is inherited in an autosomal recessive pattern. Treatment aims to control symptoms and blood triglyceride levels with a very low-fat diet. Treatment for individual symptoms (i.e. pancreatitis) involves following established treatment guidelines." }, "child_count": 0, "reference_id": "MONDO:0009387" }, { "id": 11211, "label": "sea-blue histiocyte syndrome", "isLeaf": true, "isRoot": false, "parents": [ 16345, 16607, 19116 ], "type_id": 0, "properties": { "xrefs": [ "DOID:4423", "GARD:0008241", "MEDGEN:19908", "MESH:D012618", "NCIT:C85062", "OMIM:269600", "Orphanet:158029", "SCTID:37821003", "UMLS:C0036489" ], "synonyms": [ "SEA-blue histiocyte disease", "histiocytosis, Sea-blue", "inherited Lipemic splenomegaly", "sea-blue histiocytosis" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0005046", "name": "immune system disorder" } ], "definition": "A rare, inherited or acquired syndrome characterized by the presence of histiocytes in the bone marrow which contain granules stained blue with hematoxylin-eosin stain, mild thrombocytopenia and purpura, and splenomegaly." }, "child_count": 0, "reference_id": "MONDO:0010017" }, { "id": 11225, "label": "Sjogren-Larsson syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4198, 7019, 7611, 16607, 18270, 18952 ], "type_id": 0, "properties": { "xrefs": [ "DOID:14501", "GARD:0007654", "MEDGEN:11443", "MESH:D016111", "MedDRA:10048676", "NANDO:1200620", "NANDO:2200994", "NCIT:C85070", "NORD:1377", "OMIM:270200", "Orphanet:816", "SCTID:111303009", "UMLS:C0037231", "icd11.foundation:418359090" ], "synonyms": [ "SLS", "Senior-Løken Syndrome", "Sjogren-Larsson syndrome", "fatty acid alcohol oxidoreductase deficiency", "FADH deficiency", "FALDH deficiency", "FAO deficiency", "Sjögren-Larsson syndrome", "fatty alcohol:NAD+ oxidoreductase deficiency", "fatty aldehyde dehydrogenase deficiency", "ichthyosis, spastic neurologic disorder, and oligophrenia" ], "categories": [ { "ref": "MONDO:0002022", "name": "disorder of orbital region" }, { "ref": "MONDO:0002051", "name": "integumentary system disorder" }, { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" }, { "ref": "MONDO:0024458", "name": "disorder of visual system" } ], "definition": "A neurocutaneous disorder caused by an inborn error of lipid metabolism and characterized by congenital ichthyosis, intellectual deficit, and spasticity." }, "child_count": 0, "reference_id": "MONDO:0010031" }, { "id": 11228, "label": "Smith-Lemli-Opitz syndrome", "isLeaf": true, "isRoot": false, "parents": [ 7019, 16087, 16607, 23513 ], "type_id": 0, "properties": { "xrefs": [ "DOID:14692", "GARD:0005683", "ICD10CM:E78.72", "ICD9:759.89", "MEDGEN:61231", "MESH:D019082", "NANDO:1200961", "NANDO:2200979", "NCIT:C85071", "NORD:1724", "OMIM:270400", "Orphanet:818", "SCTID:43929004", "UMLS:C0175694", "icd11.foundation:1231469858" ], "synonyms": [ "7-dehydrocholesterol reductase deficiency", "RSH syndrome", "Rutledge lethal multiple congenital anomaly syndrome", "SLO syndrome", "SLOS", "Smith-Lemli-Opitz syndrome", "Smith Lemli Opitz syndrome", "lethal acrodysgenital syndrome", "polydactyly, sex reversal, renal hypoplasia, and unilobar lung", "polydactyly, sex reversal, renal hypoplasia, and unilobular lung" ], "categories": [ { "ref": "MONDO:0002022", "name": "disorder of orbital region" }, { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0024458", "name": "disorder of visual system" } ], "definition": "Smith-Lemli-Opitz syndrome (SLOS) is characterized by multiple congenital anomalies, intellectual deficit, and behavioral problems." }, "child_count": 0, "reference_id": "MONDO:0010035" }, { "id": 11399, "label": "CHIME syndrome", "isLeaf": true, "isRoot": false, "parents": [ 16087, 16198, 16607, 17977, 19138, 21415, 24272 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0112152", "GARD:0000310", "MEDGEN:341214", "MESH:C536729", "OMIM:280000", "Orphanet:3474", "SCTID:720639008", "UMLS:C1848392" ], "synonyms": [ "CHIME syndrome", "PIGL-CDG", "Zunich-Kaye syndrome", "coloboma-congenital heart disease-ichthyosiform dermatosis-intellectual disability-ear anomalies syndrome", "congenital disorder of glycosylation due to PIGL deficiency", "neuroectodermal dysplasia, CHIME type", "neuroectodermal syndrome, Zunich type", "CHIME", "Zunich neuroectodermal syndrome", "coloboma, congenital heart disease, ichthyosiform dermatosis, intellectual disability, and ear anomalies syndrome", "coloboma, congenital heart disease, ichthyosiform dermatosis, mental retardation, and ear anomalies syndrome", "glycosylphosphatidylinositol biosynthesis defect 5" ], "categories": [ { "ref": "MONDO:0002051", "name": "integumentary system disorder" }, { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0004995", "name": "cardiovascular disorder" }, { "ref": "MONDO:0024458", "name": "disorder of visual system" } ], "definition": "CHIME syndrome is a rare ectodermal dysplasia syndrome characterized by ocular colobomas, cardiac defects, ichthyosiform dermatosis, intellectual disability, conductive hearing loss and epilepsy." }, "child_count": 0, "reference_id": "MONDO:0010221" }, { "id": 11625, "label": "multiple congenital anomalies-hypotonia-seizures syndrome 2", "isLeaf": true, "isRoot": false, "parents": [ 4427, 16198, 16607, 17977, 23814, 23985 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0080139", "GARD:0012777", "MEDGEN:477139", "OMIM:300868", "Orphanet:300496", "UMLS:C3275508" ], "synonyms": [ "DEE20", "GPIBD4", "MCAHS type 2", "MCAHS2", "PIGA multiple congenital anomalies/dysmorphic syndrome-intellectual disability", "developmental and epileptic encephalopathy 20", "epileptic encephalopathy, early infantile, 20", "glycosylphosphatidylinositol biosynthesis defect 4", "multiple congenital anomalies-hypotonia-seizures syndrome 2", "multiple congenital anomalies-hypotonia-seizures syndrome 2, X-linked recessive", "multiple congenital anomalies-hypotonia-seizures syndrome type 2", "multiple congenital anomalies/dysmorphic syndrome-intellectual disability caused by mutation in PIGA" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "Any multiple congenital anomalies/dysmorphic syndrome-intellectual disability in which the cause of the disease is a mutation in the PIGA gene." }, "child_count": 0, "reference_id": "MONDO:0010466" }, { "id": 11698, "label": "Barth syndrome", "isLeaf": true, "isRoot": false, "parents": [ 10856, 16076, 16607, 16878, 17675, 18270 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0050476", "GARD:0005890", "ICD10CM:E78.71", "MEDGEN:107893", "MESH:D056889", "NANDO:1200991", "NANDO:2200751", "NCIT:C84585", "NORD:840", "OMIM:302060", "Orphanet:111", "SCTID:297231002", "UMLS:C0574083", "icd11.foundation:452199926" ], "synonyms": [ "3-methylglutaconic aciduria type 2", "BTHS", "Barth syndrome", "Barth syndrome, X-linked recessive", "MGA2", "X-linked cardioskeletal myopathy and neutropenia", "cardioskeletal myopathy with neutropenia and abnormal mitochondria", "cardioskeletal myopathy-neutropenia syndrome", "3-Methylglutaconic aciduria, type 2", "3-methylglutaconic aciduria type II", "BARTH syndrome", "Mga, type 2", "TAZ defect" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0004995", "name": "cardiovascular disorder" }, { "ref": "MONDO:0005046", "name": "immune system disorder" }, { "ref": "MONDO:0005570", "name": "hematologic disorder" } ], "definition": "Barth syndrome (BTHS) is an inborn error of phospholipid metabolism characterized by dilated cardiomyopathy (DCM), skeletal myopathy, neutropenia, growth delay and organic aciduria." }, "child_count": 0, "reference_id": "MONDO:0010543" }, { "id": 11768, "label": "CHILD syndrome", "isLeaf": true, "isRoot": false, "parents": [ 3036, 6801, 16089, 16607, 17598, 19104, 19476, 21247, 23867 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0111822", "GARD:0006039", "ICD9:759.89", "MEDGEN:82697", "MESH:C562515", "NANDO:1200629", "NANDO:2200998", "NANDO:2201358", "NORD:1284", "OMIM:308050", "Orphanet:139", "SCTID:17608003", "UMLS:C0265267" ], "synonyms": [ "CHILD syndrome", "CHILD syndrome, X-linked dominant", "Ichthyosis, CHILD Syndrome", "child nevus", "child syndrome", "congenital hemidysplasia with ichthyosiform erythroderma and limb defects", "congenital hemidysplasia with ichthyosiform nevus and limb defects", "ichthyosiform erythroderma, unilateral, with ipsilateral malformations, especially absence deformity of limbs", "ichthyosis, child syndrome" ], "categories": [ { "ref": "MONDO:0002051", "name": "integumentary system disorder" }, { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0003900", "name": "connective tissue disorder" } ], "definition": "CHILD syndrome (Congenital Hemidysplasia with Ichthyosiform nevus and Limb Defects, CS) is an X-linked dominant genodermatosis characterized by unilateral inflammatory and scaling skin lesions with ipsilateral visceral and limb anomalies." }, "child_count": 0, "reference_id": "MONDO:0010621" }, { "id": 13442, "label": "neuronal ceroid lipofuscinosis 8 northern epilepsy variant", "isLeaf": true, "isRoot": false, "parents": [ 11966, 16437, 16607, 19726 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0110724", "GARD:0004010", "ICD10CM:G40.3", "MEDGEN:355328", "OMIM:610003", "Orphanet:1947", "Orphanet:530298", "UMLS:C1864923" ], "synonyms": [ "CLN8 disease, Northern epilepsy variant", "EPMR", "NCL, Northern epilepsy variant", "Northern epilepsy", "early onset familial encephalopathy with neuroserpin inclusion bodies", "neuronal ceroid lipofuscinosis, Northern epilepsy variant", "progressive epilepsy with intellectual disability, northern epilepsy", "progressive epilepsy-intellectual disability syndrome, Finnish type", "progressive myoclonic epilepsy with neuroserpin inclusion bodies", "CLN8", "CLN8 disease, EPMR (subtype)", "CLN8 disease, late infantile (subtype)", "ceroid lipofuscinosis neuronal 8", "ceroid lipofuscinosis, neuronal, 8, NORTHERN epilepsy variant", "epilepsy mental deterioration Finnish type", "epilepsy, progressive, with intellectual disability", "epilepsy, progressive, with mental retardation", "neuronal ceroid lipofuscinosis 8", "progressive epilepsy - intellectual disability, Finnish type" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "Progressive epilepsy-intellectual deficit, Finnish type (also known as Northern epilepsy) is a subtype of neuronal ceroid lipofuscinosis (NCL) characterized by seizures, progressive decline of intellectual capacities and variable loss of vision." }, "child_count": 0, "reference_id": "MONDO:0012391" }, { "id": 13760, "label": "Krabbe disease due to saposin A deficiency", "isLeaf": true, "isRoot": false, "parents": [ 16607, 24242 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0010289", "MEDGEN:392873", "MESH:C567097", "OMIM:611722", "UMLS:C2673266" ], "synonyms": [ "Krabbe disease, atypical", "Krabbe disease, atypical due to saposin A deficiency", "Krabbe disease, atypical, due to saposin A deficiency", "saposin A deficiency" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ] }, "child_count": 0, "reference_id": "MONDO:0012720" }, { "id": 13765, "label": "lipoprotein glomerulopathy", "isLeaf": true, "isRoot": false, "parents": [ 16607 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0017504", "ICD9:272.8", "ICD9:593.89", "MEDGEN:382034", "MESH:C567089", "NANDO:2200134", "OMIM:611771", "Orphanet:329481", "SCTID:446923008", "UMLS:C2673196", "icd11.foundation:69778702" ], "synonyms": [ "LPG", "lipoprotein glomerulopathy" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ] }, "child_count": 0, "reference_id": "MONDO:0012725" }, { "id": 13827, "label": "hereditary spastic paraplegia 39", "isLeaf": false, "isRoot": false, "parents": [ 16082, 16607, 18270 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0110790", "GARD:0004924", "MEDGEN:383142", "MESH:C567433", "OMIM:612020", "Orphanet:139480", "SCTID:719103009", "UMLS:C2677586" ], "synonyms": [ "NTE-related motor neuron disorder", "NTEMND", "PNPLA6 hereditary spastic paraplegia", "SPG39", "autosomal recessive spastic paraplegia type 39", "hereditary spastic paraplegia caused by mutation in PNPLA6", "hereditary spastic paraplegia type 39", "spastic paraplegia due to NTE mutation", "spastic paraplegia due to neuropathy target esterase mutation", "NTE related motor neuron disorder", "spastic paraplegia 39", "spastic paraplegia 39, autosomal recessive" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "This syndrome is characterized by progressive spastic paraplegia and distal muscle wasting." }, "child_count": 3, "reference_id": "MONDO:0012787" }, { "id": 14024, "label": "PHARC syndrome", "isLeaf": true, "isRoot": false, "parents": [ 7611, 16607, 18270, 19748 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0080181", "GARD:0017071", "MEDGEN:436373", "MESH:C567203", "OMIM:612674", "Orphanet:171848", "SCTID:723452007", "UMLS:C2675204" ], "synonyms": [ "PHARC syndrome", "peripheral neuropathy, Fiskerstrand type", "PHARC", "polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract", "polyneuropathy-hearing loss-ataxia-retinitis pigmentosa-cataract syndrome" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "Fiskerstrand type peripheral neuropathy is a slowly-progressive Refsum-like disorder associating signs of peripheral neuropathy with late-onset hearing loss, cataract and pigmentary retinopathy that become evident during the third decade of life." }, "child_count": 0, "reference_id": "MONDO:0012984" }, { "id": 14778, "label": "congenital ichthyosis-intellectual disability-spastic quadriplegia syndrome", "isLeaf": true, "isRoot": false, "parents": [ 16607, 18270 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0017515", "MEDGEN:482486", "OMIM:614457", "Orphanet:352333", "UMLS:C3280856" ], "synonyms": [ "congenital ichthyosis-intellectual disability-spastic tetraplegia syndrome", "ISQMR", "ichthyosis, spastic quadriplegia, and intellectual disability", "ichthyosis, spastic quadriplegia, and mental retardation" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ] }, "child_count": 0, "reference_id": "MONDO:0013760" }, { "id": 15414, "label": "hyperlipoproteinemia, type 1D", "isLeaf": true, "isRoot": false, "parents": [ 3564, 7611, 16607, 18634 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0111420", "GARD:0017973", "MEDGEN:863204", "OMIM:615947", "Orphanet:535458", "UMLS:C4014767" ], "synonyms": [ "GPIHBP1 familial hyperlipidemia", "familial hyperlipidemia caused by mutation in GPIHBP1", "hyperlipoproteinemia, type 1D", "hyperlipoproteinemia, type ID" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "Any familial hyperlipidemia in which the cause of the disease is a mutation in the GPIHBP1 gene." }, "child_count": 0, "reference_id": "MONDO:0014412" }, { "id": 15817, "label": "intellectual disability, autosomal recessive 53", "isLeaf": true, "isRoot": false, "parents": [ 4427, 16607, 17977, 24320 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0017897", "MEDGEN:934761", "OMIM:616917", "Orphanet:488635", "UMLS:C4310794" ], "synonyms": [ "GPIBD13", "MRT53", "PIGG-CDG", "congenital disorder of glycosylation due to PIGG deficiency", "early-onset epilepsy-intellectual disability-brain anomalies syndrome", "glycosylphosphatidylinositol biosynthesis defect 13", "intellectual developmental disorder, autosomal recessive 53", "intellectual disability, autosomal recessive 53", "intellectual disability, autosomal recessive type 53", "mental retardation, autosomal recessive 53", "mental retardation, autosomal recessive type 53" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ] }, "child_count": 0, "reference_id": "MONDO:0014832" }, { "id": 17083, "label": "hyperphosphatasia-intellectual disability syndrome", "isLeaf": false, "isRoot": false, "parents": [ 16198, 16607, 17977, 18956 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0070431", "GARD:0017188", "MEDGEN:383800", "OMIMPS:239300", "Orphanet:247262", "SCTID:33982008", "UMLS:C1855923" ], "synonyms": [ "HPMR", "Mabry syndrome", "hyperphosphatasia with intellectual disability syndrome", "hyperphosphatasia with mental retardation syndrome" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ] }, "child_count": 24, "reference_id": "MONDO:0016596" }, { "id": 17945, "label": "mevalonate kinase deficiency", "isLeaf": false, "isRoot": false, "parents": [ 16607, 18150, 19104 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0021315", "MEDGEN:87453", "MESH:D054078", "MedDRA:10072221", "NANDO:2200436", "NORD:1260", "Orphanet:309025", "UMLS:C0342731", "icd11.foundation:772056052" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0003900", "name": "connective tissue disorder" } ] }, "child_count": 6, "reference_id": "MONDO:0017708" }, { "id": 18174, "label": "fatty acid hydroxylase-associated neurodegeneration", "isLeaf": true, "isRoot": false, "parents": [ 16082, 16607, 18270, 18404 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0010810", "MEDGEN:777150", "MESH:C580102", "NANDO:1200541", "Orphanet:329308", "UMLS:C3668943" ], "synonyms": [ "FAHN" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "Fatty acid hydroxylase-associated neurodegeneration (FAHN) is a very rare, autosomal recessive form of neurodegeneration with brain iron accumulation (NBIA) characterized by childhood-onset focal dystonia, progressive spastic paraplegia that progresses to tetra paresis, ataxia, dysarthria, intellectual decline, and oculomotor disturbances (optic atrophy), accompanied by iron deposition in the globus pallidus." }, "child_count": 0, "reference_id": "MONDO:0017999" }, { "id": 22625, "label": "nephrotic syndrome 14", "isLeaf": true, "isRoot": false, "parents": [ 4449, 16607, 18270, 23429 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0080265", "GARD:0013818", "MEDGEN:1617660", "OMIM:617575", "Orphanet:506334", "UMLS:C4540559" ], "synonyms": [ "RENI syndrome", "SGPL1 deficiency, steroid-resistant nephrotic syndrome type 14", "SPLIS", "familial steroid-resistant nephrotic syndrome with adrenal insufficiency", "nephrotic syndrome 14", "nephrotic syndrome, type 14", "primary adrenal insufficiency-steroid-resistant nephrotic syndrome due to SGPL1 deficiency", "renal, endocrine, neurologic and immune syndrome", "sphingosine phosphate lyase insufficiency syndrome", "NPHS14" ], "categories": [ { "ref": "MONDO:0002118", "name": "urinary system disorder" }, { "ref": "MONDO:0002254", "name": "syndromic disease" } ] }, "child_count": 0, "reference_id": "MONDO:0033203" }, { "id": 23413, "label": "autosomal recessive complex spastic paraplegia due to kennedy pathway dysfunction", "isLeaf": true, "isRoot": false, "parents": [ 16082, 16607, 18270 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0112349", "GARD:0017946", "MEDGEN:1799999", "Orphanet:506353", "UMLS:C5568576" ], "synonyms": [ "autosomal recessive complex SPG due to Kennedy pathway dysfunction" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ] }, "child_count": 0, "reference_id": "MONDO:0044737" }, { "id": 24003, "label": "peroxisome biogenesis disorder due to PEX5 defect in the PEX7-binding domain", "isLeaf": false, "isRoot": false, "parents": [ 16532, 16607, 24055 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0026107" ], "synonyms": [ "peroxisome biogenesis disorder due to PEX5 defect in the PEX7-binding domain" ], "categories": [ { "ref": "MONDO:0002022", "name": "disorder of orbital region" }, { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" }, { "ref": "MONDO:0024458", "name": "disorder of visual system" } ], "definition": "Any peroxisome biogenesis disorder due to PEX5 in which the cause of the disease is a mutation in the PEX7-binding domain of the PEX5 gene." }, "child_count": 3, "reference_id": "MONDO:0100265" }, { "id": 25037, "label": "lysosomal acid lipase deficiency", "isLeaf": false, "isRoot": false, "parents": [ 16607, 19108 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0080217", "GARD:0012097", "MEDGEN:1807768", "MESH:C531854", "OMIMPS:278000", "Orphanet:275761", "SCTID:715923003", "UMLS:C5574740", "icd11.foundation:381622932" ], "synonyms": [ "LAL deficiency" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ] }, "child_count": 4, "reference_id": "MONDO:0800449" } ], "roots": [ { "id": 4370, "label": "syndromic disease" }, { "id": 4594, "label": "inherited lipid metabolism disorder" } ] }