{ "id": 19748, "label": "hereditary peripheral neuropathy", "model": { "label": "Mondo Disease Ontology (MONDO)", "source": 0 }, "type_id": 0, "reference_id": "MONDO:0020127", "properties": { "xrefs": [ "GARD:0010711", "MEDGEN:1825937", "Orphanet:98497", "UMLS:C5681733" ], "synonyms": [ "genetic peripheral neuropathy" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "An instance of peripheral neuropathy that is caused by an inherited genomic modification in an individual." }, "isLeaf": false, "isRoot": false, "child_count": 65, "parents": [ { "id": 6950, "label": "peripheral neuropathy", "isLeaf": false, "isRoot": false, "parents": [ 5512, 18957 ], "type_id": 0, "properties": { "xrefs": [ "DOID:870", "EFO:0003100", "MEDGEN:18386", "MedDRA:10034606", "NCIT:C119734", "NCIT:C4731", "SCTID:302226006", "SCTID:386033004", "UMLS:C0031117" ], "synonyms": [ "neuropathy", "peripheral nerve disorder", "peripheral neuropathy" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "A disorder affecting the peripheral nervous system. It manifests with pain, tingling, numbness, and muscle weakness. It may be the result of physical injury, toxic substances, viral diseases, diabetes, renal failure, cancer, and drugs." }, "child_count": 60, "reference_id": "MONDO:0005244" }, { "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" } ], "children": [ { "id": 2734, "label": "giant axonal neuropathy", "isLeaf": false, "isRoot": false, "parents": [ 6005, 19748 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0022713", "ICD9:349.89", "MEDGEN:1684765", "MESH:D056768", "NCIT:C84728", "NORD:1182", "OMIMPS:256850", "SCTID:128207002", "UMLS:C5200933", "icd11.foundation:1848636316" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "A rare inherited disorder affecting the neurofilaments. It is caused by mutations in the GAN gene. It is characterized by the presence of abnormally large nerve cell axons. Signs and symptoms include difficulty walking, sensory disturbances, lack of motor coordination and abnormal reflexes in the limbs." }, "child_count": 4, "reference_id": "MONDO:0000128" }, { "id": 8510, "label": "Finnish type amyloidosis", "isLeaf": true, "isRoot": false, "parents": [ 4370, 18261, 18631, 19748 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0050637", "GARD:0002339", "ICD9:277.39", "MEDGEN:301243", "MESH:C537459", "NANDO:1201063", "OMIM:105120", "Orphanet:85448", "SCTID:419398009", "UMLS:C1622345" ], "synonyms": [ "amyloidosis, MERETOJA type", "familial amyloid polyneuropathy type IV", "familial amyloidosis, Finnish type", "gelsolin amyloidosis", "hereditary amyloidosis, Finnish type", "meretoja syndrome", "AGel amyloidosis", "amyloid cranial neuropathy with lattice corneal dystrophy", "amyloidosis 5", "amyloidosis V", "amyloidosis due to mutant gelsolin", "amyloidosis, Finnish type", "amyloidosis, Meretoja type", "cerebral amyloid angiopathy, Gsn-related", "corneal dystrophy, lattice type 2", "hereditary gelsolin amyloidosis", "lattice corneal dystrophy type II Finnish", "lattice corneal dystrophy, type 2", "meretoja type amyloidosis" ], "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:0007097" }, { "id": 8513, "label": "familial amyloid neuropathy", "isLeaf": false, "isRoot": false, "parents": [ 18631, 19748 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0050638", "DOID:0050761", "EFO:0004129", "GARD:0021017", "ICD9:277.39", "MEDGEN:104815", "MESH:C567782", "NANDO:1200214", "NANDO:1201060", "NCIT:C84554", "OMIMPS:105210", "Orphanet:271861", "SCTID:42295001", "UMLS:C0206245", "icd11.foundation:807065795" ], "synonyms": [ "ATTRv amyloidosis", "amyloid neuropathies, familial", "familial TTR-related amyloidosis", "familial amyloid neuropathy", "familial amyloid polyneuropathy", "familial transthyretin-related amyloidosis", "hATTR", "hereditary TTR amyloid polyneuropathy", "hereditary TTR amyloidosis", "hereditary transthyretin amyloid polyneuropathy", "paramyloidosis", "hereditary amyloidosis, transthyretin-related" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "A rare genetic systemic disease characterized by adult onset, progressive sensorimotor and autonomic neuropathy and infiltrative cardiomyopathy. Neurological involvement usually starts with sensory loss in the extremities and progresses with motor neuropathy. Cardiomyopathy presents with rhythm abnormalities and heart failure. The disease also frequently manifests with a range of additional clinical signs and symptoms due to associated ocular, renal, central nervous system and gastrointestinal involvement." }, "child_count": 8, "reference_id": "MONDO:0007100" }, { "id": 8677, "label": "carpal tunnel syndrome", "isLeaf": false, "isRoot": false, "parents": [ 5507, 19748 ], "type_id": 0, "properties": { "xrefs": [ "DOID:12169", "EFO:0004143", "GARD:0027775", "ICD10CM:G56.0", "ICD9:354.0", "MEDGEN:2856", "MESH:D002349", "NCIT:C34450", "OMIMPS:115430", "Orphanet:50838", "SCTID:57406009", "UMLS:C0007286", "icd11.foundation:1275186848" ], "synonyms": [ "carpal tunnel syndrome", "CTS", "amyotrophy, thenar, of carpal origin" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "Entrapment of the median nerve in the wrist that is characterized by numbness, tingling and painful movement." }, "child_count": 4, "reference_id": "MONDO:0007275" }, { "id": 8777, "label": "congenital trigeminal anesthesia", "isLeaf": true, "isRoot": false, "parents": [ 4427, 19748 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0010034", "MEDGEN:342259", "MESH:C536440", "OMIM:122450", "Orphanet:231013", "SCTID:763218005", "UMLS:C1852541" ], "synonyms": [ "corneal hypesthesia, familial", "familial trigeminal anaesthesia", "familial trigeminal anesthesia", "trigeminal anesthesia, familial" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "Congenital trigeminal anesthesia is a rare neuro-ophtalmological disorder characterized by a congenital sensory deficit involving all or some of the sensory components of the trigeminal nerve. Due to corneal anesthesia, it usually presents with recurrent, painless eye infections, painless corneal opacities and/or poorly healing, ulcerated wounds on the facial skin and mucosa (typically the buccal mucosa and/or nasal septum)." }, "child_count": 0, "reference_id": "MONDO:0007384" }, { "id": 8963, "label": "familial recurrent peripheral facial palsy", "isLeaf": true, "isRoot": false, "parents": [ 19748 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0016609", "MEDGEN:342742", "MESH:C565028", "OMIM:134200", "Orphanet:2809", "UMLS:C1851399" ], "synonyms": [ "familial recurrent Bell palsy", "facial palsy, familial recurrent peripheral" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ] }, "child_count": 0, "reference_id": "MONDO:0007592" }, { "id": 9303, "label": "meralgia paraesthetica, familial", "isLeaf": true, "isRoot": false, "parents": [ 19748, 21274 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0024592", "MEDGEN:322555", "MESH:C563590", "OMIM:156220", "UMLS:C1835026" ], "synonyms": [ "meralgia paraesthetica, familial" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ] }, "child_count": 0, "reference_id": "MONDO:0007975" }, { "id": 9397, "label": "amyotrophic neuralgia", "isLeaf": true, "isRoot": false, "parents": [ 8150, 19748 ], "type_id": 0, "properties": { "xrefs": [ "DOID:10383", "GARD:0003955", "ICD9:353.5", "MEDGEN:320318", "OMIM:162100", "SCTID:26609002", "UMLS:C1834304" ], "synonyms": [ "amyotrophy, hereditary neuralgic", "amyotrophy, hereditary neuralgic, with predilection for brachial plexus", "brachial plexus neuropathy, hereditary", "hereditary brachial plexus neuropathy", "hereditary neuralgic amyotrophy", "neuritis with brachial predilection", "HNA", "neuralgic amyotrophy" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "An autosomal dominant form of recurrent focal neuropathy characterized clinically by acute, recurrent episodes of brachial plexus neuropathy with muscle weakness and atrophy preceded by severe pain in the affected arm." }, "child_count": 0, "reference_id": "MONDO:0008076" }, { "id": 9406, "label": "hereditary neuropathy with liability to pressure palsies", "isLeaf": true, "isRoot": false, "parents": [ 19748, 20965 ], "type_id": 0, "properties": { "xrefs": [ "DECIPHER:31", "DOID:0060843", "GARD:0005221", "MEDGEN:98291", "MESH:C536965", "MedDRA:10069382", "OMIM:162500", "Orphanet:640", "SCTID:230558006", "UMLS:C0393814", "icd11.foundation:2126843932" ], "synonyms": [ "HNPP", "Tomaculous neuropathy", "current pressure-sensitive neuropathy", "hereditary liability to pressure palsies", "hereditary neuropathy with liability to pressure palsies", "heterozygous microdeletion 17p11.2p12", "neuropathy, recurrent, with pressure palsies", "potato-grubbing palsy", "tomaculous neuropathy", "tulip-bulb digger's palsy", "hereditary neuropathy with liability to pressure palsy", "neuropathy, hereditary, with liability to pressure palsies", "polyneuropathy, familial recurrent" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "Hereditary neuropathy with liability to pressure palsies (HNPP) is an inherited peripheral nerve disorder characterized by recurrent mononeuropathy usually triggered by minor physical activities." }, "child_count": 0, "reference_id": "MONDO:0008087" }, { "id": 9966, "label": "abetalipoproteinemia", "isLeaf": true, "isRoot": false, "parents": [ 5573, 6756, 17998, 19712, 19748 ], "type_id": 0, "properties": { "xrefs": [ "DOID:1386", "GARD:0000005", "MEDGEN:1253", "MESH:D000012", "NANDO:1200857", "NANDO:2200604", "NCIT:C84525", "NORD:703", "OMIM:200100", "Orphanet:14", "SCTID:190787008", "UMLS:C0000744", "icd11.foundation:1117838449" ], "synonyms": [ "Bassen-Kornzweig disease", "abetalipoproteinemia", "homozygous familial hypobetalipoproteinemia", "ABL", "Bassen Kornzweig syndrome", "Bassen-Kornzweig syndrome", "Betalipoprotein deficiency disease", "MTP deficiency", "abetalipoproteinemia neuropathy", "acanthocytosis", "apolipoprotein B deficiency", "congenital betalipoprotein deficiency syndrome", "microsomal triglyceride transfer Protein deficiency" ], "categories": [ { "ref": "MONDO:0004335", "name": "digestive system disorder" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" }, { "ref": "MONDO:0005570", "name": "hematologic disorder" } ], "definition": "Abetalipoproteinemia/ homozygous familial hypobetalipoproteinemia (ABL/HoFHBL) is a severe form of familial hypobetalipoproteinemia characterized by permanently low levels (below the 5th percentile) of apolipoprotein B and LDL cholesterol, and by growth delay, malabsorption, hepatomegaly, and neurological and neuromuscular manifestations." }, "child_count": 0, "reference_id": "MONDO:0008692" }, { "id": 9969, "label": "VPS13A-related neurodegenerative disease", "isLeaf": true, "isRoot": false, "parents": [ 17399, 19129, 19748, 23867 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0050766", "GARD:0003956", "ICD9:333.0", "MEDGEN:98277", "NANDO:1200014", "OMIM:200150", "Orphanet:2388", "SCTID:66881004", "UMLS:C0393576" ], "synonyms": [ "CHAC", "Chac", "Levine-Critchley syndrome", "VPS13A disease", "chorea-acanthocytosis", "choreoacanthocytosis" ], "categories": [ { "ref": "MONDO:0002051", "name": "integumentary system disorder" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "A form of neuroacanthocytosis and is characterized clinically by a Huntington disease-like phenotype with progressive neurological symptoms including movement disorders, psychiatric manifestations and cognitive disturbances, and caused by a variation in the VPS13A gene." }, "child_count": 0, "reference_id": "MONDO:0008695" }, { "id": 10031, "label": "mitochondrial DNA depletion syndrome 4a", "isLeaf": true, "isRoot": false, "parents": [ 4370, 19748, 21292, 24237 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0080122", "DOID:1442", "GARD:0005783", "ICD10CM:G31.81", "ICD9:330.8", "MEDGEN:60012", "MedDRA:10062943", "NCIT:C35257", "NORD:752", "OMIM:203700", "Orphanet:726", "SCTID:20415001", "UMLS:C0205710" ], "synonyms": [ "AHD", "AHS", "Alper syndrome", "Alper's disease", "Alper's syndrome", "Alpers Disease", "Alpers Huttenlocher disease", "Alpers Huttenlocher syndrome", "Alpers disease", "Alpers progressive infantile poliodystrophy", "Alpers progressive sclerosing poliodystrophy", "Alpers syndrome", "Alpers-Huttenlocher", "Alpers-Huttenlocher syndrome", "mitochondrial DNA depletion syndrome 4A", "mitochondrial DNA depletion syndrome type 4a", "progressive neuronal degeneration of childhood with liver disease", "Alpers diffuse Degeneration of cerebral Gray matter with hepatic cirrhosis", "Alpers diffuse Degeneration of cerebral Grey matter with hepatic cirrhosis", "MTDPS4A", "PNDC", "Poliodystrophia cerebri progressiva", "diffuse cerebral degeneration in infancy", "infantile poliodystrophy", "mitochondrial DNA depletion syndrome 4A (Alpers type)", "neuronal Degeneration of childhood with liver disease, progressive", "progressive cerebral poliodystrophy" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "A cerebrohepatopathy and a rare and severe form of mitochondrial DNA (mtDNA) depletion syndrome characterized by the triad of progressive developmental regression, intractable seizures, and hepatic failure." }, "child_count": 0, "reference_id": "MONDO:0008758" }, { "id": 10032, "label": "oxoglutaricaciduria", "isLeaf": true, "isRoot": false, "parents": [ 5908, 17230, 19748 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0081326", "GARD:0000617", "MEDGEN:414553", "MESH:C536582", "OMIM:203740", "Orphanet:31", "SCTID:733630004", "UMLS:C2752074" ], "synonyms": [ "Alpha-ketoglutarate dehydrogenase deficiency", "oxoglutarate dehydrogenase deficiency", "2 alpha ketoglutarate dehydrogenase deficiency", "2-ketoglutarate dehydrogenase deficiency", "ALPHA-ketoglutarate dehydrogenase deficiency", "Alpha KGD deficiency", "Alpha-Kgd deficiency", "Oxoglutaric aciduria" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "A rare, genetic, inborn error of metabolism disorder characterized by neonatal-onset of developmental delay, hypotonia, hepatomegaly, lactic acidemia, increased creatine kinase levels, elevated alpha-ketoglutaric acid in urine, and a decreased plasma beta-hydroxybutyrate-to-acetoacetate ratio. Pyruvate dehydrogenase deficiency can be associated, leading to hypoglycemia and neurologic anomalies, including seizures." }, "child_count": 0, "reference_id": "MONDO:0008759" }, { "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": 10221, "label": "Chediak-Higashi syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4427, 16076, 16355, 17626, 17972, 19748, 21292 ], "type_id": 0, "properties": { "xrefs": [ "DOID:2935", "GARD:0006035", "ICD10CM:E70.330", "MEDGEN:3347", "MESH:D002609", "MedDRA:10008415", "NANDO:1200350", "NANDO:1200639", "NANDO:2200724", "NCIT:C2941", "NORD:921", "OMIM:214500", "Orphanet:167", "SCTID:111396008", "UMLS:C0007965" ], "synonyms": [ "CHS", "ChC)diak-Higashi disease", "ChC)diak-Higashi-Steinbrink syndrome", "Chediak Higashi Syndrome", "Chediak Higashi syndrome", "Chediak-Higashi syndrome", "Chédiak-Higashi disease", "Chédiak-Higashi syndrome", "Chédiak-Higashi-Steinbrink syndrome" ], "categories": [ { "ref": "MONDO:0002051", "name": "integumentary system disorder" }, { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0005046", "name": "immune system disorder" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" }, { "ref": "MONDO:0005570", "name": "hematologic disorder" } ], "definition": "ChC)diak-Higashi syndrome (CHS) is a rare severe genetic disorder generally characterized by partial oculocutaneous albinism (OCA), severe immunodeficiency, mild bleeding, neurological dysfunction and lymphoproliferative disorder. A classic, early-onset form and an attenuated, later-onset form (Atypical CHS) have been described." }, "child_count": 0, "reference_id": "MONDO:0008963" }, { "id": 10585, "label": "homocystinuria due to methylene tetrahydrofolate reductase deficiency", "isLeaf": true, "isRoot": false, "parents": [ 6511, 17632, 19748 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0002734", "MEDGEN:343470", "MESH:C537357", "NANDO:1201041", "OMIM:236250", "Orphanet:395", "SCTID:41797007", "UMLS:C1856061" ], "synonyms": [ "MTHFR deficiency", "homocystinuria due to methylene tetrahydrofolate reductase deficiency", "methylene tetrahydrofolate reductase deficiency", "5,10 alpha methylenetetrahydro-folate reductase deficiency", "5,10-alpha-methylenetetrahydro-folate reductase deficiency", "Homocysteinemia due to methylenetetrahydro-folate reductase deficiency", "Homocysteinuria due to methylenetetrahydro-folate reductase deficiency", "MTHFR deficiency, thermolabile type", "Methylenetetrahydro-folate reductase deficiency", "homocystinuria due to MTHFR deficiency", "homocystinuria due to deficiency of N(5,10)-methylenetetrahydrofolate reductase activity", "methylenetetrahydrofolate reductase deficiency" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "Homocystinuria due to methylene tetrahydrofolate reductase (MTHFR) deficiency is a metabolic disorder characterized by neurological manifestations." }, "child_count": 0, "reference_id": "MONDO:0009353" }, { "id": 10724, "label": "Krabbe disease", "isLeaf": false, "isRoot": false, "parents": [ 6639, 18952, 19116, 19748 ], "type_id": 0, "properties": { "xrefs": [ "DOID:10587", "GARD:0006844", "ICD10CM:E75.23", "MEDGEN:44131", "MESH:D007965", "MedDRA:10023492", "NANDO:1200074", "NANDO:2200564", "NCIT:C61254", "NORD:1368", "OMIM:245200", "Orphanet:487", "SCTID:189979005", "SCTID:192782005", "UMLS:C0023521", "icd11.foundation:796317173" ], "synonyms": [ "GALC deficiency", "GALC enzyme deficiency", "Krabbe disease", "Krabbe's leukodystrophy", "Leukodystrophy, Krabbe's", "diffuse globoid body sclerosis", "galactocerebrosidase deficiency", "galactosylceramidase deficiency", "galactosylceramide lipidosis", "globoid cell leukodystrophy", "globoid cell leukoencephalopathy", "later onset Krabbe disease", "later-onset Krabbe disease", "GLD", "Krabbe leukodystrophy", "galactosylceramide Beta-galactosidase deficiency" ], "categories": [ { "ref": "MONDO:0002022", "name": "disorder of orbital region" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" }, { "ref": "MONDO:0024458", "name": "disorder of visual system" } ], "definition": "A lysosomal disorder that affects the white matter of the central and peripheral nervous systems. It includes infantile, late-infantile/juvenile and adult forms." }, "child_count": 12, "reference_id": "MONDO:0009499" }, { "id": 10783, "label": "beta-mannosidosis", "isLeaf": true, "isRoot": false, "parents": [ 19113, 19748, 24806 ], "type_id": 0, "properties": { "xrefs": [ "DOID:3633", "GARD:0000869", "ICD9:271.8", "MEDGEN:888408", "MESH:D044905", "NANDO:1200129", "NANDO:2201190", "NCIT:C84596", "OMIM:248510", "Orphanet:118", "SCTID:238047006", "UMLS:C4048196", "icd11.foundation:1578707401" ], "synonyms": [ "Beta-mannosidase deficiency", "beta-mannosidase deficiency", "beta-mannosidosis", "lysosomal beta-mannosidase deficiency", "mannosidosis, beta", "MANSB", "lysosomal Beta-mannosidase deficiency", "mannosidosis, BETA A, lysosomal" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "Beta-mannosidosis is a very rare lysosomal storage disease characterized by developmental delay of varying severity and hearing loss, but that can manifest a wide phenotypic heterogeneity." }, "child_count": 0, "reference_id": "MONDO:0009562" }, { "id": 10879, "label": "biotinidase deficiency", "isLeaf": true, "isRoot": false, "parents": [ 16297, 19748 ], "type_id": 0, "properties": { "xrefs": [ "DOID:856", "GARD:0000894", "ICD10CM:D81.810", "ICD9:277.6", "MEDGEN:66323", "MESH:D028921", "MedDRA:10071434", "NANDO:1200822", "NCIT:C84598", "NORD:857", "OMIM:253260", "Orphanet:79241", "SCTID:8808004", "UMLS:C0220754" ], "synonyms": [ "BTD deficiency", "biotinidase deficiency", "juvenile-onset multiple carboxylase deficiency", "late-onset multiple carboxylase deficiency", "biotin deficiency", "late-onset biotin-responsive multiple carboxylase deficiency", "multiple carboxylase deficiency, juvenile-onset", "multiple carboxylase deficiency, late-onset" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "A late-onset form of multiple carboxylase deficiency, an inborn error of biotin metabolism that, if untreated, is characterized by seizures, breathing difficulties, hypotonia, skin rash, alopecia, hearing loss and delayed development." }, "child_count": 0, "reference_id": "MONDO:0009665" }, { "id": 10936, "label": "Leigh syndrome", "isLeaf": false, "isRoot": false, "parents": [ 16918, 19748 ], "type_id": 0, "properties": { "xrefs": [ "DOID:3652", "GARD:0006877", "ICD10CM:G31.82", "ICD9:330.8", "MEDGEN:419518", "MESH:D007888", "MedDRA:10062950", "NANDO:1200175", "NANDO:2200527", "NCIT:C84814", "NORD:1355", "OMIM:256000", "Orphanet:506", "SCTID:29570005", "UMLS:C2931891", "icd11.foundation:672871576" ], "synonyms": [ "LS", "LSS", "Leigh disease", "Leigh syndrome", "Leigh syndrome spectrum", "Leigh's disease", "infantile subacute necrotizing encephalopathy", "Leigh syndrome due to mitochondrial Complex 1 deficiency", "Leigh syndrome due to mitochondrial Complex 2 deficiency", "Leigh syndrome due to mitochondrial Complex 3 deficiency", "Leigh syndrome due to mitochondrial Complex 4 deficiency", "Leigh syndrome due to mitochondrial Complex 5 deficiency", "Leigh's necrotizing encephalopathy", "SNE", "necrotizing encephalopathy, infantile Subacute, of Leigh", "subacute necrotizing encephalopathy" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "A progressive neurological disease defined by specific neuropathological features associating brainstem and basal ganglia lesions." }, "child_count": 8, "reference_id": "MONDO:0009723" }, { "id": 10959, "label": "hereditary sensory and autonomic neuropathy with spastic paraplegia", "isLeaf": true, "isRoot": false, "parents": [ 16082, 19748 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0061188", "GARD:0016959", "MEDGEN:342492", "MESH:C564948", "OMIM:256840", "Orphanet:139578", "SCTID:717827000", "UMLS:C1850395", "icd11.foundation:813709854" ], "synonyms": [ "HSAN with spastic paraplegia", "hereditary sensory and autonomic neuropathy with spastic paraplegia", "neuropathy, hereditary sensory, with spastic paraplegia, autosomal recessive" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "This syndrome is characterized by the association of an axonal sensory and autonomic neuropathy with spastic paraplegia." }, "child_count": 0, "reference_id": "MONDO:0009748" }, { "id": 11006, "label": "ornithine aminotransferase deficiency", "isLeaf": true, "isRoot": false, "parents": [ 4072, 17673, 19000, 19748, 23165 ], "type_id": 0, "properties": { "xrefs": [ "DOID:1415", "GARD:0006556", "MEDGEN:6695", "MESH:D015799", "NANDO:2200484", "NANDO:2200486", "NCIT:C84744", "OMIM:258870", "Orphanet:414", "UMLS:C0018425" ], "synonyms": [ "GACR", "HOGA", "gyrate atrophy", "gyrate atrophy of choroid and retina with or without ornithinemia", "hoga", "hyperornithinemia", "hyperornithinemia-gyrate atrophy of choroid and retina syndrome", "ornithine aminotransferase deficiency", "Fuchs atrophia gyrata chorioideae et retinae", "Fuchs gyrate atrophy", "Fuchs gyrate atrophy of the choroid and retina", "Girate atrophy of the retina", "OAT deficiency", "OKT deficiency", "Oat deficiency", "Okt deficiency", "Ornithinemia", "gyrate atrophy of choroid and retina", "hyperornithinemia with gyrate atrophy of choroid and retina", "ornithine Keto acid aminotransferase deficiency", "ornithine ketoacid aminotransferase deficiency", "ornithine-Delta-aminotransferase deficiency" ], "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" } ], "definition": "A very rare inherited retinal dystrophy characterized by progressive chorioretinal atrophy, myopia and early cataract." }, "child_count": 0, "reference_id": "MONDO:0009796" }, { "id": 11100, "label": "adult polyglucosan body disease", "isLeaf": true, "isRoot": false, "parents": [ 10531, 19748 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0000108", "MEDGEN:342338", "MESH:C564878", "NANDO:2201163", "NORD:1591", "OMIM:263570", "Orphanet:206583", "SCTID:721099001", "UMLS:C1849722" ], "synonyms": [ "APBD", "APBN", "polyglucosan body disease, adult", "polyglucosan body disease, adult form", "polyglucosan body neuropathy, adult form" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "Adult polyglucosan body disease (APBD) is a glycogen storage disease of adults characterized by progressive upper and lower motor neuron dysfunction, progressive neurogenic bladder and cognitive difficulties that can lead to dementia." }, "child_count": 0, "reference_id": "MONDO:0009897" }, { "id": 11201, "label": "Sandhoff disease", "isLeaf": false, "isRoot": false, "parents": [ 7019, 17953, 19748, 19753 ], "type_id": 0, "properties": { "xrefs": [ "DOID:3323", "GARD:0002521", "ICD10CM:E75.01", "MEDGEN:11313", "MESH:D012497", "NANDO:1200072", "NANDO:2201200", "NCIT:C85052", "NORD:1688", "OMIM:268800", "Orphanet:796", "SCTID:23849003", "UMLS:C0036161", "icd11.foundation:708581915" ], "synonyms": [ "GM2 gangliosidosis 0 variant", "GM2 gangliosidosis, 0 variant", "Hexosaminidases A and B deficiency", "Sandhoff Jatzkewitz disease", "Sandhoff disease", "Sandhoff disease, adult form", "Sandhoff disease, infantile form", "Sandhoff disease, juvenile form" ], "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 lysosomal disorder from the GM2 gangliosidosis family, caused by biallelic pathogenic variants in the HEXB gene, characterized by GM2 ganglioside accumulation in the nervous system and progressive central nervous system degeneration." }, "child_count": 12, "reference_id": "MONDO:0010006" }, { "id": 11287, "label": "Tay-Sachs disease", "isLeaf": false, "isRoot": false, "parents": [ 7019, 17953, 19748, 19753 ], "type_id": 0, "properties": { "xrefs": [ "DOID:3320", "GARD:0007737", "ICD10CM:E75.02", "MEDGEN:11713", "MESH:D013661", "MedDRA:10043147", "NANDO:1200071", "NANDO:2201199", "NCIT:C85184", "NORD:1761", "OMIM:272800", "Orphanet:845", "SCTID:111385000", "SCTID:49562005", "UMLS:C0039373", "icd11.foundation:215008783" ], "synonyms": [ "GM2 gangliosidosis, B, B1 variant", "GM2-gangliosidosis, several forms", "Hex A pseudodeficiency", "Tay Sachs Disease", "Tay-Sachs disease", "disease, Tay-Sachs", "hexosaminidase A deficiency", "B variant GM2 gangliosidosis", "B variant GM2-gangliosidosis", "GM2 gangliosidosis, type 1", "GM2-gangliosidosis, adult chronic type", "GM2-gangliosidosis, type 1", "GM2-gangliosidosis, variant B1", "TAY-Sachs disease", "TSD", "Tay-Sachs disease, juvenile", "Tay-Sachs disease, pseudo-Ab variant", "Tay-Sachs disease, variant B1", "gangliosidosis GM2, type 1", "hexa deficiency", "hexosaminidase a deficiency", "hexosaminidase a deficiency, adult type", "hexosaminidase alpha-subunit deficiency (variant B)", "sphingolipidosis, Tay-Sachs" ], "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": "GM2 gangliosidosis, variant B or Tay-Sachs disease is marked by accumulation of G2 gangliosides due to hexosaminidase A deficiency." }, "child_count": 16, "reference_id": "MONDO:0010100" }, { "id": 11366, "label": "methylmalonic aciduria and homocystinuria type cblC", "isLeaf": true, "isRoot": false, "parents": [ 17252, 19748 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0050715", "GARD:0012128", "MEDGEN:341256", "NANDO:1201040", "NANDO:2201107", "NCIT:C142174", "OMIM:277400", "Orphanet:79282", "SCTID:74653006", "UMLS:C1848561" ], "synonyms": [ "cblC defect", "cobalamin C defect", "cobalamin c disease", "combined defect in adenosylcobalamin and methylcobalamin synthesis, type cblC", "methylmalonic aciduria and homocystinuria type cblC", "methylmalonic aciduria with homocystinuria, type cblC", "MAHCC", "cblC", "cblC - cobalamin locus c", "cblC methylmalonic acidemia and homocystinuria", "cobalamin locus c variant", "methylmalonic acidemia and homocystinuria cblC", "methylmalonic acidemia and homocystinuria, cblC type", "methylmalonic acidemia with homocystinuria type cblC", "methylmalonic acidemia with homocystinuria, type cblC", "methylmalonic aciduria and homocystinuria cblC", "methylmalonic aciduria and homocystinuria, cblC type", "methylmalonic aciduria and homocystinuria, cblC type, digenic", "methylmalonic aciduria and homocystinuria, vitamin B12-responsive", "vitamin B12 metabolic defect with combined deficiency of methylmalonyl-Coa mutase and homocysteine:methyltetrahydrofolate methyltransferase" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" }, { "ref": "MONDO:0005570", "name": "hematologic disorder" } ], "definition": "A form of methylmalonic acidemia with homocystinuria, an inborn error of vitamin B12 (cobalamin) metabolism characterized by megaloblastic anemia, lethargy, failure to thrive, developmental delay, intellectual deficit and seizures. cblC type methylmalonic acidemia with homocystinuria is caused by mutations in the MMACHC gene (1p36.3) and is transmitted in an autosomal recessive manner." }, "child_count": 0, "reference_id": "MONDO:0010184" }, { "id": 11370, "label": "familial isolated deficiency of vitamin E", "isLeaf": true, "isRoot": false, "parents": [ 7182, 19712, 19748 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0090028", "GARD:0008595", "ICD9:269.1", "ICD9:334.3", "MEDGEN:341248", "MESH:C535393", "MedDRA:10047631", "NANDO:1200050", "NORD:817", "OMIM:277460", "Orphanet:96", "SCTID:702442008", "UMLS:C1848533" ], "synonyms": [ "AVED", "Ataxia with Vitamin E Deficiency", "Friedreich-like ataxia", "ataxia with isolated vitamin E deficiency", "familial isolated deficiency of vitamin type E", "familial isolated vitamin E deficiency", "isolated vitamin E deficiency", "Friedreich-like ataxia with selective vitamin E deficiency", "VED", "ataxia with vitamin E deficiency", "ataxia, Friedreich-like, with selective vitamin E deficiency", "vitamin E, familial isolated deficiency OF" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "Ataxia with vitamin E deficiency (AVED) is a neurodegenerative disease belonging to the inherited cerebellar ataxias. It is mainly characterized by progressive spino-cerebellar ataxia, loss of proprioception, areflexia, and is associated with a marked deficiency in vitamin E." }, "child_count": 0, "reference_id": "MONDO:0010188" }, { "id": 11924, "label": "Kearns-Sayre syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370, 6902, 16878, 16918, 19748, 21415 ], "type_id": 0, "properties": { "xrefs": [ "DOID:12934", "GARD:0006817", "ICD10CM:H49.81", "MEDGEN:9618", "MESH:D007625", "MedDRA:10048804", "NANDO:1201064", "NANDO:2200529", "NCIT:C84798", "NORD:1323", "OMIM:530000", "Orphanet:480", "SCTID:25792000", "UMLS:C0022541", "icd11.foundation:399100745" ], "synonyms": [ "Kearns Sayre Syndrome", "Kearns-Sayre syndrome", "CPEO with myopathy", "CPEO with ragged red fibers", "CPEO with ragged red fibres", "CPEO with ragged-Red fibers", "CPEO with ragged-Red fibres", "KSS", "chronic progressive external ophthalmoplegia with myopathy", "mitochondrial Cytopathy", "oculocraniosomatic syndrome", "ophthalmoplegia plus syndrome", "ophthalmoplegia, pigmentary Degeneration of retina, and cardiomyopathy", "ophthalmoplegia, progressive external, with ragged red fibers", "ophthalmoplegia, progressive external, with ragged red fibres", "ophthalmoplegia, progressive external, with ragged-Red fibers", "ophthalmoplegia, progressive external, with ragged-Red fibres", "ophthalmoplegia-plus syndrome" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0004995", "name": "cardiovascular disorder" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" }, { "ref": "MONDO:0024458", "name": "disorder of visual system" } ], "definition": "Kearns-Sayre syndrome (KSS) is a mitochondrial disease characterized by progressive external ophthalmoplegia (PEO), pigmentary retinitis and an onset before the age of 20 years. Common additional features include deafness, cerebellar ataxia and heart block." }, "child_count": 0, "reference_id": "MONDO:0010787" }, { "id": 11931, "label": "NARP syndrome", "isLeaf": true, "isRoot": false, "parents": [ 16918, 19748 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0111273", "GARD:0000262", "MEDGEN:231285", "MESH:C537396", "MedDRA:10062940", "OMIM:551500", "Orphanet:644", "UMLS:C1328349", "icd11.foundation:2089784682" ], "synonyms": [ "NARP syndrome", "neurogenic muscle weakness-ataxia-retinitis pigmentosa syndrome", "neuropathy-ataxia-retinitis pigmentosa syndrome", "NARP", "neuropathy ataxia retinitis pigmentosa syndrome", "neuropathy, ataxia, and retinitis pigmentosa" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "A clinically heterogeneous progressive condition characterized by a combination of proximal neurogenic muscle weakness, sensory-motor neuropathy, ataxia, and pigmentary retinopathy." }, "child_count": 0, "reference_id": "MONDO:0010794" }, { "id": 12011, "label": "Charcot-Marie-Tooth disease type 5", "isLeaf": true, "isRoot": false, "parents": [ 4423, 18959, 19748 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0080067", "GARD:0009208", "MEDGEN:1648461", "OMIM:600361", "Orphanet:64751", "SCTID:76043009", "UMLS:C4721916" ], "synonyms": [ "Charcot-Marie-Tooth disease-pyramidal features syndrome", "HMSN 5", "hereditary motor and sensory neuropathy type 5", "CMT with pyramidal features", "Charcot-Marie-Tooth disease with pyramidal features, autosomal dominant", "Charcot-Marie-Tooth neuropathy with pyramidal features, autosomal dominant", "HMSN5", "hereditary motor and sensory neuropathy 5", "hereditary motor and sensory neuropathy V", "peroneal muscular atrophy with pyramidal features, autosomal dominant" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "Hereditary motor and sensory neuropathy type 5 is a rare axonal hereditary motor and sensory neuropathy characterized by slowly progressive distal muscle weakness and atrophy with or without sensory loss resulting in difficulty in walking, foot drop and pes cavus, that may be associated with pyramidal signs (extensor plantar responses, mild increase in tone, brisk tendon reflexes), muscle cramps, pain and spasticity." }, "child_count": 0, "reference_id": "MONDO:0010877" }, { "id": 12571, "label": "hereditary motor and sensory neuropathy, Okinawa type", "isLeaf": false, "isRoot": false, "parents": [ 4423, 19748 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0010131", "MEDGEN:346886", "MESH:C535717", "OMIM:604484", "Orphanet:90117", "UMLS:C1858338" ], "synonyms": [ "HMSNP", "hereditary motor and sensory neuropathy, proximal type", "HMSNO", "hereditary motor and sensory neuropathy, proximal type, formerly", "neuropathy, hereditary motor and sensory, Okinawa type" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "Hereditary motor and sensory neuropathy, Okinawa type is a rare, genetic, axonal hereditary motor and sensory neuropathy characterized by the adult-onset of slowly progressive, symmetric, proximal dominant muscle weakness and atrophy, painful muscle cramps, fasciculations and distal sensory impairment, mostly (but not exclusively) in individuals (and their descendents) from the Okinawa region in Japan. Absent deep tendon reflexes, elevated creatine kinase levels and autosomal dominant inheritance are also characteristic." }, "child_count": 2, "reference_id": "MONDO:0011468" }, { "id": 12817, "label": "fumaric aciduria", "isLeaf": true, "isRoot": false, "parents": [ 5908, 17230, 19748 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0111261", "GARD:0006476", "ICD9:282.3", "MEDGEN:87458", "MESH:C538191", "NANDO:2200520", "OMIM:606812", "Orphanet:24", "SCTID:237983002", "UMLS:C0342770" ], "synonyms": [ "fumarase deficiency", "fumaric aciduria", "FMRD", "fumarate hydratase deficiency" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "Fumaric aciduria (FA), an autosomal recessive metabolic disorder, is most often characterized by early onset but non-specific clinical signs: hypotonia, severe psychomotor impairment, convulsions, respiratory distress, feeding difficulties and frequent cerebral malformations, along with a distinctive facies. Some patients present with only moderate intellectual impairment." }, "child_count": 0, "reference_id": "MONDO:0011730" }, { "id": 12883, "label": "spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1", "isLeaf": true, "isRoot": false, "parents": [ 19748, 20172 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0090115", "GARD:0010000", "MEDGEN:1683470", "MESH:C537313", "NORD:1730", "OMIM:607250", "Orphanet:94124", "SCTID:765091006", "UMLS:C4759870" ], "synonyms": [ "autosomal recessive spinocerebellar ataxia with axonal neuropathy", "spinocerebellar ataxia, autosomal recessive, with axonal neuropathy", "SCAN1", "Spinocerebellar Ataxia with Axonal Neuropathy", "spinocerebellar ataxia type 1 with axonal neuropathy", "spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1", "spinocerebellar ataxia autosomal recessive with axonal neuropathy", "spinocerebellar ataxia with axonal neuropathy", "spinocerebellar ataxia with axonal neuropathy type 1" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "Spinocerebellar ataxia with axonal neuropathy type 1 is a rare, genetic neurological disorder characterized by a late childhood onset of slowly progressive cerebellar ataxia. Initial manifestations include weakness and atrophy of distal limb muscles, areflexia and loss of pain, vibration and touch sensations in upper and lower extremities. Gaze nystagmus, cerebellar dysarthria, peripheral neuropathy, stepagge gait and pes cavus develop as disease progresses. Cerebellar atrophy (especially of the vermis) is present in all affected individuals. Additional reported manifestations include seizures, mild brain atrophy, mild hypercholesterolemia and borderline hypoalbuminemia." }, "child_count": 0, "reference_id": "MONDO:0011801" }, { "id": 12916, "label": "sensory ataxic neuropathy, dysarthria, and ophthalmoparesis", "isLeaf": false, "isRoot": false, "parents": [ 4427, 10856, 17232, 19748 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0111276", "GARD:0009998", "MEDGEN:375302", "OMIM:607459", "OMIM:613832", "Orphanet:402082", "Orphanet:70595", "UMLS:C1843851" ], "synonyms": [ "EPM5", "PME type 5", "PRICKLE2 progressive myoclonic epilepsy", "SANDO", "epilepsy, progressive myoclonic, type 5", "mitochondrial recessive ataxia syndrome (includes SANDO and SCAE)", "progressive myoclonic epilepsy caused by mutation in PRICKLE2", "progressive myoclonus epilepsy type 5", "sensory ataxic neuropathy, dysarthria, and ophthalmoparesis", "epilepsy, progressive myoclonic, 5", "epilepsy, progressive myoclonic, 5, formerly", "epilepsy, progressive myoclonic, with sensory ataxic neuropathy", "sensory ataxic neuropathy with mitochondrial DNA deletions, autosomal recessive", "sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome", "spinocerebellar ataxia with epilepsy" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "A rare mitochondrial disease characterized by adult onset of the triad of sensory ataxic neuropathy, dysarthria, and ophthalmoparesis. Additional signs and symptoms are highly variable and include myopathy, seizures, and hearing loss, among others. Brain imaging may show cerebellar white matter abnormalities and/or bilateral thalamic lesions." }, "child_count": 4, "reference_id": "MONDO:0011835" }, { "id": 12950, "label": "Niemann-Pick disease type B", "isLeaf": true, "isRoot": false, "parents": [ 7611, 17416, 19748, 22225, 24190 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0070112", "GARD:0010729", "ICD10CM:E75.241", "MEDGEN:78651", "MESH:D052537", "NANDO:1200062", "NANDO:2201207", "NCIT:C126866", "OMIM:607616", "Orphanet:77293", "SCTID:39390005", "UMLS:C0268243", "icd11.foundation:327269975" ], "synonyms": [ "type B Niemann-Pick disease", "Niemann Pick disease type B", "Niemann-PICK disease, type B", "Niemann-Pick disease, Intermediate, with visceral involvement and rapid progression", "Niemann-Pick disease, type E", "Niemann-Pick disease, type F" ], "categories": [ { "ref": "MONDO:0005046", "name": "immune system disorder" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" }, { "ref": "MONDO:0005087", "name": "respiratory system disorder" } ], "definition": "Niemann-Pick disease type B is a mild subtype of Niemann-Pick disease, an autosomal recessive lysosomal disease, and is characterized clinically by onset in childhood with hepatosplenomegaly, growth retardation, and lung disorders such as infections and dyspnea" }, "child_count": 0, "reference_id": "MONDO:0011871" }, { "id": 13236, "label": "long chain 3-hydroxyacyl-CoA dehydrogenase deficiency", "isLeaf": true, "isRoot": false, "parents": [ 17948, 19748, 21518 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0061186", "GARD:0006867", "MEDGEN:778253", "NCIT:C129929", "OMIM:609016", "Orphanet:5", "SCTID:726021008", "UMLS:C3711645", "icd11.foundation:760613381" ], "synonyms": [ "HELLP syndrome, maternal, of pregnancy", "LCHAD deficiency", "LCHADD", "fatty liver, acute, of pregnancy", "long chain 3-hydroxyacyl-CoA dehydrogenase deficiency", "long-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency", "3-hydroxyacyl-CoA dehydrogenase long chain deficiency", "long-chain 3-OH acyl-CoA dehydrogenase deficiency", "long-chain 3-hydroxy acyl CoA dehydrogenase deficiency", "long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency", "trifunctional protein deficiency type 1" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0004995", "name": "cardiovascular disorder" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency (LCHADD) is a mitochondrial disorder of long chain fatty acid oxidation characterized in most patients by onset in infancy/ early childhood with hypoketotic hypoglycemia, metabolic acidosis, liver disease, hypotonia and frequently cardiac involvement with arrhythmias and/or cardiomyopathy." }, "child_count": 0, "reference_id": "MONDO:0012173" }, { "id": 13898, "label": "primary CD59 deficiency", "isLeaf": true, "isRoot": false, "parents": [ 5573, 19748 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0017054", "MEDGEN:393582", "MESH:C567355", "NANDO:2200804", "OMIM:612300", "Orphanet:169464", "UMLS:C2676767" ], "synonyms": [ "primary CD59 deficiency", "CD59 deficiency", "HACD59", "hemolytic anemia, CD59-mediated, with or without immune-mediated polyneuropathy" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" }, { "ref": "MONDO:0005570", "name": "hematologic disorder" } ] }, "child_count": 0, "reference_id": "MONDO:0012858" }, { "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": 14415, "label": "progressive demyelinating neuropathy with bilateral striatal necrosis", "isLeaf": true, "isRoot": false, "parents": [ 2745, 19748 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0017123", "MEDGEN:462323", "OMIM:613710", "Orphanet:217396", "UMLS:C3150973" ], "synonyms": [ "thiamine metabolism dysfunction syndrome 4 (progressive polyneuropathy type)", "THMD4", "bilateral striatal Degeneration and progressive polyneuropathy", "progressive polyneuropathy with bilateral striatal necrosis", "striatal Necrosis, bilateral, and progressive polyneuropathy", "thiamine metabolism dysfunction syndrome 4 (bilateral striatal degeneration and progressive polyneuropathy type)" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "Progressive polyneuropathy with bilateral striatal necrosis is a rare, genetic disorder of thiamine metabolism and transport characterized by the childhood-onset of recurrent episodes of flaccid paralysis and encephalopathy, associated with bilateral striatal necrosis and chronic progressive axonal polyneuropathy with proximal and distal muscle weakness, areflexia, contractures and foot deformities." }, "child_count": 0, "reference_id": "MONDO:0013382" }, { "id": 15455, "label": "cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome", "isLeaf": true, "isRoot": false, "parents": [ 16330, 16918, 17206, 19748 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0017727", "MEDGEN:863379", "OMIM:616007", "Orphanet:436174", "UMLS:C4014942" ], "synonyms": [ "CAGSSS", "cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" }, { "ref": "MONDO:0005151", "name": "endocrine system disorder" } ] }, "child_count": 0, "reference_id": "MONDO:0014455" }, { "id": 15555, "label": "ataxia - oculomotor apraxia type 4", "isLeaf": true, "isRoot": false, "parents": [ 19714, 19748, 23452 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0081383", "GARD:0013111", "MEDGEN:902323", "OMIM:616267", "Orphanet:459033", "UMLS:C4225397" ], "synonyms": [ "AOA4", "PNKP oculomotor apraxia or related oculomotor disease", "ataxia - oculomotor apraxia type 4", "oculomotor apraxia or related oculomotor disease caused by mutation in PNKP", "ataxia-oculomotor apraxia 4", "ataxia-oculomotor apraxia-4" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "Any oculomotor apraxia or related oculomotor disease in which the cause of the disease is a mutation in the PNKP gene." }, "child_count": 0, "reference_id": "MONDO:0014557" }, { "id": 16202, "label": "adrenomyeloneuropathy", "isLeaf": true, "isRoot": false, "parents": [ 18561, 19748 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0010614", "ICD10CM:E71.522", "MEDGEN:315918", "NANDO:1200168", "NANDO:2201248", "Orphanet:139399", "SCTID:65389002", "UMLS:C1527231", "icd11.foundation:1214673956" ], "synonyms": [ "AMN", "adrenomyeloneuropathy" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" }, { "ref": "MONDO:0005151", "name": "endocrine system disorder" } ], "definition": "An adult form of the peroxisomal disease X-linked adrenoleukodystrophy (X-ALD), characterized by spastic paraparesia and often associated with peripheral adrenal insufficiency in males. Both males and females can be affected with AMN." }, "child_count": 0, "reference_id": "MONDO:0015339" }, { "id": 16213, "label": "neuropathy with hearing impairment", "isLeaf": true, "isRoot": false, "parents": [ 19748 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0019919", "MEDGEN:1375726", "Orphanet:139512", "SCTID:723497003", "UMLS:C4509933", "icd11.foundation:129297527" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "This syndrome is characterized by the association of sensorineural hearing impairment and peripheral neuropathy." }, "child_count": 0, "reference_id": "MONDO:0015351" }, { "id": 16220, "label": "hereditary motor and sensory neuropathy", "isLeaf": false, "isRoot": false, "parents": [ 19748 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0012685", "ICD10CM:G60.0", "MEDGEN:45066", "MESH:D015417", "NANDO:2200855", "Orphanet:140450", "SCTID:398100001", "UMLS:C0027888", "icd11.foundation:1538134578" ], "synonyms": [ "HMSN" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "A group of slowly progressive inherited disorders affecting motor and sensory peripheral nerves. Subtypes include HMSNs I-VII. HMSN I and II both refer to CHARCOT-MARIE-Tooth DISEASE. HMSN III refers to hypertrophic neuropathy of infancy. HMSN IV refers to REFSUM DISEASE. HMSN V refers to a condition marked by a hereditary motor and sensory neuropathy associated with spastic paraplegia (see SPASTIC PARAPLEGIA, HEREDITARY). HMSN VI refers to HMSN associated with an inherited optic atrophy (OPTIC ATROPHIES, HEREDITARY), and HMSN VII refers to HMSN associated with retinitis pigmentosa. (From Adams et al., Principles of Neurology, 6th ed, p1343)" }, "child_count": 8, "reference_id": "MONDO:0015358" }, { "id": 16223, "label": "hereditary sensory and autonomic neuropathy", "isLeaf": false, "isRoot": false, "parents": [ 4428, 19748 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0050548", "GARD:0012688", "ICD9:356.2", "MEDGEN:14355", "MESH:D009477", "NCIT:C125386", "OMIMPS:162400", "Orphanet:140471", "SCTID:11442006", "UMLS:C0027889", "icd11.foundation:1091217288" ], "synonyms": [ "CIP", "HSAN", "congenital insensitivity to pain", "congenital pain insensitivity", "hereditary sensory and autonomic neuropathy", "hereditary sensory neuropathy", "hereditary sensory peripheral neuropathy", "indifference to pain, Congenital, autosomal recessive", "hereditary sensory autonomic neuropathy" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "An instance of sensory peripheral neuropathy that is caused by an inherited modification of the individual's genome." }, "child_count": 26, "reference_id": "MONDO:0015364" }, { "id": 16413, "label": "Charcot-Marie-Tooth disease", "isLeaf": false, "isRoot": false, "parents": [ 19748 ], "type_id": 0, "properties": { "xrefs": [ "DOID:10595", "GARD:0006034", "ICD9:356.1", "MEDGEN:2980", "MESH:D002607", "MedDRA:10034699", "NANDO:1200016", "NANDO:2200855", "NCIT:C75467", "NORD:919", "OMIMPS:118220", "Orphanet:166", "UMLS:C0007959" ], "synonyms": [ "hereditary motor and sensory neuropathy", "hereditary sensorimotor neuropathy", "CMT", "CMT/HMSN", "Charcot Marie Tooth muscular atrophy", "Charcot-Marie-Tooth disease", "Charcot-Marie-Tooth hereditary neuropathy", "peroneal muscular atrophy", "Charcot Marie Tooth disease", "Charcot-Marie-Tooth disease/hereditary motor and sensory neuropathy" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "An inherited degenerative disorder involving the peripheral nerves. It is caused by mutations in the genes that are responsible for the production of proteins necessary for the function and structure of the peripheral nerves. It is characterized by muscle atrophy and weakness in the feet, legs, hands, and arms and loss of sensation in the limbs." }, "child_count": 24, "reference_id": "MONDO:0015626" }, { "id": 17430, "label": "infantile axonal neuropathy", "isLeaf": true, "isRoot": false, "parents": [ 6005, 19748 ], "type_id": 0, "properties": { "xrefs": [ "Orphanet:2679" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ] }, "child_count": 0, "reference_id": "MONDO:0017047" }, { "id": 17856, "label": "mitochondrial neurogastrointestinal encephalomyopathy", "isLeaf": false, "isRoot": false, "parents": [ 4370, 4427, 10856, 19102, 19748 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0009920", "MEDGEN:167876", "MESH:C537477", "NCIT:C119678", "NORD:1449", "Orphanet:298", "SCTID:718214007", "UMLS:C0872218" ], "synonyms": [ "MNGIE", "Mitochondrial Neurogastrointestinal Encephalopathy", "Mitochondrial neurogastrointestinal encephalopathy", "mitochondrial Neurogastrointestingal encephalopathy", "MNGIE syndrome", "OGIMD", "POLIP", "mitochondrial neurogastrointestinal encephalopathy syndrome", "myoneurogastrointestinal encephalopathy syndrome", "oculogastrointestinal muscular dystrophy", "polyneuropathy, ophthalmoplegia, leukoencephalopathy, and intestinal pseudo-obstruction", "thymidine phosphorylase deficiency" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "A syndrome characterized by the association of gastrointestinal dysmotility, peripheral neuropathy, chronic progressive external ophthalmoplegia and leukoencephalopathy." }, "child_count": 20, "reference_id": "MONDO:0017575" }, { "id": 18282, "label": "attenuated Chédiak-Higashi syndrome", "isLeaf": true, "isRoot": false, "parents": [ 19748, 21292 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0021527", "MEDGEN:929691", "Orphanet:352723", "SCTID:720520009", "UMLS:C4304022" ], "synonyms": [ "attenuated Chediak-Higashi syndrome", "atypical Chediak-Higashi syndrome", "atypical Chédiak-Higashi syndrome" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "Attenuated Chédiak-Higashi syndrome (CHS) is a very rare and atypical form of CHS, a genetic disorder characterized by partial oculocutaneous albinism (OCA), severe immunodeficiency, mild bleeding, neurological dysfunction and lymphoproliferative disorder." }, "child_count": 0, "reference_id": "MONDO:0018133" }, { "id": 18296, "label": "coenzyme Q10 deficiency", "isLeaf": false, "isRoot": false, "parents": [ 16918, 19748 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0050730", "GARD:0010423", "MEDGEN:334528", "MESH:C564403", "NCIT:C142083", "OMIMPS:607426", "Orphanet:35656", "SCTID:724575009", "UMLS:C1843920", "icd11.foundation:1251664337" ], "synonyms": [ "CoQ10 deficiency", "coenzyme Q10 deficiency disease", "coenzyme Q10 deficiency, primary", "CoQ10 deficiency, primary" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "A genetically heterogeneous condition, typically inherited in an autosomal recessive fashion, characterized by coenzyme Q10 deficiency." }, "child_count": 20, "reference_id": "MONDO:0018151" }, { "id": 18414, "label": "familial episodic pain syndrome", "isLeaf": false, "isRoot": false, "parents": [ 19748, 20717 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0111728", "GARD:0012684", "MEDGEN:1682682", "OMIMPS:615040", "Orphanet:391384", "UMLS:C5190598" ], "synonyms": [ "FEPS" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ] }, "child_count": 6, "reference_id": "MONDO:0018319" }, { "id": 18583, "label": "non-progressive predominantly posterior cavitating leukoencephalopathy with peripheral neuropathy", "isLeaf": true, "isRoot": false, "parents": [ 16918, 18952, 19748 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0021819", "MEDGEN:1806079", "Orphanet:436271", "UMLS:C5688227" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ] }, "child_count": 0, "reference_id": "MONDO:0018576" }, { "id": 18800, "label": "metachromatic leukodystrophy", "isLeaf": false, "isRoot": false, "parents": [ 16360, 18952, 19116, 19748 ], "type_id": 0, "properties": { "xrefs": [ "DOID:10581", "GARD:0003230", "ICD10CM:E75.25", "MEDGEN:6071", "MESH:D007966", "MedDRA:10067609", "NANDO:1200078", "NANDO:2200560", "NCIT:C61251", "NORD:1369", "Orphanet:512", "SCTID:238031009", "SCTID:396338004", "SCTID:66521008", "UMLS:C0023522", "icd11.foundation:172326564" ], "synonyms": [ "MLD", "arylsulfatase A deficiency" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "A rare lysosomal storage disorder characterized by intralysosomal accumulation of sulfatides in various tissues, leading to progressive deterioration of motor and neurocognitive function." }, "child_count": 8, "reference_id": "MONDO:0018868" }, { "id": 18822, "label": "distal hereditary motor neuropathy", "isLeaf": false, "isRoot": false, "parents": [ 19748, 21302 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0012683", "MEDGEN:98274", "Orphanet:53739", "SCTID:230247001", "UMLS:C0393541" ], "synonyms": [ "dHMN", "dSMA", "distal spinal muscular atrophy", "neuronopathy, distal hereditary motor" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ] }, "child_count": 6, "reference_id": "MONDO:0018894" }, { "id": 18912, "label": "spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2", "isLeaf": true, "isRoot": false, "parents": [ 19748, 20172 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0050755", "GARD:0012860", "MEDGEN:340052", "MESH:C537308", "NCIT:C165500", "OMIM:606002", "Orphanet:64753", "SCTID:725408001", "UMLS:C1853761" ], "synonyms": [ "AOA2", "SCAN 2", "SCAN2", "ataxia with oculomotor apraxia type 2", "ataxia-ocular apraxia 2", "ataxia-oculomotor apraxia 2", "ataxia-oculomotor apraxia type 2", "spinocerebellar ataxia with axonal neuropathy type 2", "spinocerebellar ataxia, autosomal recessive 1", "spinocerebellar ataxia, autosomal recessive type 1", "SCAR1", "autosomal recessive spinocerebellar ataxia-1" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "A rare autosomal recessive cerebellar ataxia (ARCA), characterized by progressive cerebellar ataxia associated with frequent oculomotor apraxia, severe neuropathy and an elevated serum alpha-fetoprotein (AFP) level." }, "child_count": 0, "reference_id": "MONDO:0018996" }, { "id": 18971, "label": "proximal spinal muscular atrophy", "isLeaf": false, "isRoot": false, "parents": [ 3724, 19748 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0004531", "MEDGEN:870510", "NANDO:2100231", "NORD:1729", "Orphanet:70", "UMLS:C4024957" ], "synonyms": [ "SMA", "Spinal Muscular Atrophy" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "Proximal spinal muscular atrophies are a group of neuromuscular disorders characterized by progressive muscle weakness resulting from the degeneration and loss of the lower motor neurons in the spinal cord and the brain stem nuclei." }, "child_count": 12, "reference_id": "MONDO:0019079" }, { "id": 19044, "label": "pyruvate dehydrogenase deficiency", "isLeaf": false, "isRoot": false, "parents": [ 5908, 17229, 19082, 19748 ], "type_id": 0, "properties": { "xrefs": [ "DOID:3649", "GARD:0007513", "ICD9:277.89", "MEDGEN:19610", "NANDO:2200518", "NCIT:C103968", "NORD:1641", "OMIMPS:312170", "Orphanet:765", "SCTID:46683007", "UMLS:C0034345", "icd11.foundation:1124597954" ], "synonyms": [ "PDH", "PDHC", "Pyruvate Dehydrogenase Complex Deficiency", "pyruvate decarboxylase deficiency", "pyruvate dehydrogenase complex deficiency", "pyruvate dehydrogenase deficiency" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "A rare neurometabolic disorder characterized by a wide range of clinical signs with metabolic and neurological components of varying severity. Manifestations range from often fatal, severe, neonatal lactic acidosis to later-onset neurological disorders. Six subtypes related to the affected subunit of the PDH complex have been recognized with significant clinical overlap: PDHD due to E1-alpha, E1-beta, E2 and E3 deficiency, PDHD due to E3-binding protein deficiency, and PDH phosphatase deficiency." }, "child_count": 28, "reference_id": "MONDO:0019169" }, { "id": 19098, "label": "peroxisome biogenesis disorder", "isLeaf": false, "isRoot": false, "parents": [ 4370, 7611, 18952, 18955, 19748 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0080377", "GARD:0011890", "MEDGEN:330407", "MESH:C531857", "MESH:C536664", "NANDO:1200759", "NANDO:2200575", "NCIT:C146639", "NCIT:C155747", "OMIMPS:214100", "Orphanet:79189", "SCTID:742876007", "UMLS:C1832200", "icd11.foundation:1919322367" ], "synonyms": [ "PBD, ZSS", "PBD-ZSD", "peroxisomal biogenesis disorders", "peroxisomal biogenesis disorders, Zellweger syndrome spectrum", "peroxisome biogenesis disorder", "peroxisome biogenesis disorder spectrum", "peroxisome biogenesis disorder-Zellweger syndrome spectrum", "peroxisome biogenesis disorders, Zellweger syndrome spectrum", "cerebrohepatorenal syndrome", "PBD-ZSS", "PBD-Zellweger spectrum disorder", "ZSD", "Zellweger spectrum", "Zellweger spectrum disorder", "Zellweger spectrum disorders", "Zellweger syndrome spectrum", "disorders of peroxisome biogenesis" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "Peroxisome biogenesis disorders, Zellweger syndrome spectrum (PBD-ZSS) is a group of autosomal recessive disorders affecting the formation of functional peroxisomes, characterized by sensorineural hearing loss, pigmentary retinal degeneration, multiple organ dysfunction and psychomotor impairment, and is comprised of the phenotypic variants Zellweger syndrome (ZS), neonatal adrenoleukodystrophy (NALD) and infantile Refsum disease (IRD)." }, "child_count": 10, "reference_id": "MONDO:0019234" }, { "id": 21414, "label": "neurodegeneration with brain iron accumulation 2A", "isLeaf": true, "isRoot": false, "parents": [ 18173, 19748 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0110735", "GARD:0003957", "ICD9:330.8", "MEDGEN:82852", "MESH:C536071", "NANDO:1200537", "NCIT:C84927", "OMIM:256600", "Orphanet:35069", "SCTID:52713000", "UMLS:C0270724" ], "synonyms": [ "Seitelberger disease", "INAD", "NBIA2A", "NBIA2a", "PLAN", "inaD", "infantile neuroaxonal dystrophy", "neurodegeneration with brain iron accumulation 2A", "neurodegeneration with brain iron accumulation type 2A", "neurodegeneration with brain iron accumulation type 2a", "neurodegeneration, PLA2G6-associated", "neurodegeneration, Pla2G6-associated", "neurodegeneration, Pla2g6-associated", "phospholipase A2-associated neurodegeneration", "Hunter Carpenter Macdonald syndrome", "Hunter-Carpenter-McDonald syndrome", "INAD1", "KARAK syndrome, included", "infantile neuroaxonal dystrophy/atypical neuroaxonal dystrophy", "neuroaxonal dystrophy presenting with neonatal dysmorphic features, early onset of peripheral gangrene", "neuroaxonal dystrophy, infantile" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ] }, "child_count": 0, "reference_id": "MONDO:0024457" }, { "id": 22641, "label": "neuropathy, congenital hypomelinating", "isLeaf": false, "isRoot": false, "parents": [ 4427, 19748 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0025794", "MEDGEN:97965", "OMIMPS:605253", "UMLS:C0393818" ], "synonyms": [ "CHN" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ] }, "child_count": 6, "reference_id": "MONDO:0033352" }, { "id": 22767, "label": "optic atrophy-ataxia-peripheral neuropathy-global developmental delay syndrome", "isLeaf": true, "isRoot": false, "parents": [ 7611, 19748, 29301 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0022231", "MEDGEN:1807322", "Orphanet:543470", "UMLS:C5681321" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ] }, "child_count": 0, "reference_id": "MONDO:0034092" }, { "id": 23357, "label": "EMILIN-1-related connective tissue disease", "isLeaf": true, "isRoot": false, "parents": [ 19748, 21247 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0021994", "MEDGEN:1814474", "Orphanet:485418", "UMLS:C5681244" ], "categories": [ { "ref": "MONDO:0003900", "name": "connective tissue disorder" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ] }, "child_count": 0, "reference_id": "MONDO:0044622" }, { "id": 23813, "label": "PRPS1 deficiency disorder", "isLeaf": true, "isRoot": false, "parents": [ 19748 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0026031" ], "synonyms": [ "PRPS1 deficiency disorder", "PRPS1-related CMTX5/Arts syndrome/XLNSHL" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "A peripheral neuropathy that is characterized by variants in PRPS1, which causes decreased or impaired function of the PRPS1 enzyme, and presents as a range of peripheral neuropathies that can include features of Charcot-Marie Tooth syndrome, Arts syndrome, or nonsyndromic hearing loss." }, "child_count": 0, "reference_id": "MONDO:0100061" }, { "id": 24908, "label": "neuropathy, hereditary sensory and autonomic, type IId", "isLeaf": true, "isRoot": false, "parents": [ 19748 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0026489", "MEDGEN:860491", "UMLS:C4012054" ], "synonyms": [ "HSAN2D" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ] }, "child_count": 0, "reference_id": "MONDO:0800304" }, { "id": 25397, "label": "peripheral motor neuropathy, childhood-onset, biotin-responsive", "isLeaf": true, "isRoot": false, "parents": [ 4423, 19748 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0026682", "MEDGEN:1809728", "OMIM:619903", "UMLS:C5676997" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ] }, "child_count": 0, "reference_id": "MONDO:0859255" } ], "roots": [ { "id": 6950, "label": "peripheral neuropathy" }, { "id": 24271, "label": "hereditary neuromuscular disease" } ] }