{ "id": 24806, "label": "lysosomal storage disease with skeletal involvement", "model": { "label": "Mondo Disease Ontology (MONDO)", "source": 0 }, "type_id": 0, "reference_id": "MONDO:0800088", "properties": { "xrefs": [ "GARD:0019203", "ICD9:756.9", "Orphanet:93448", "SCTID:254069004", "SCTID:279081001" ], "synonyms": [ "dysostosis multiplex" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" } ] }, "isLeaf": false, "isRoot": false, "child_count": 25, "parents": [ { "id": 18360, "label": "skeletal dysplasia", "isLeaf": false, "isRoot": false, "parents": [ 5714, 7061 ], "type_id": 0, "properties": { "xrefs": [ "MEDGEN:98053", "Orphanet:364526", "UMLS:C0410528" ], "synonyms": [ "Mendelian skeletal dysplasia", "primary bone dysplasia", "primary osteodysplasia", "primary skeletal dysplasia" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" } ], "definition": "Any Mendelian diseases that affects growth and development of the skeleton." }, "child_count": 238, "reference_id": "MONDO:0018230" } ], "children": [ { "id": 10097, "label": "aspartylglucosaminuria", "isLeaf": true, "isRoot": false, "parents": [ 19113, 24806 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0050461", "GARD:0005854", "MEDGEN:78649", "MESH:D054880", "MedDRA:10068220", "NANDO:1200133", "NANDO:2200555", "NCIT:C61273", "NORD:813", "OMIM:208400", "Orphanet:93", "SCTID:54954004", "UMLS:C0268225", "icd11.foundation:2143470200" ], "synonyms": [ "Aspartylglycosaminuria", "aspartylglucosaminidase deficiency", "aspartylglucosaminuria", "aspartylglycosaminuria", "glycosylasparaginase deficiency", "AGU", "Aga deficiency", "Aspartylglucosamidase (AGA) deficiency", "Glycoasparaginase" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" } ], "definition": "Aspartylglycosaminuria (AGU) is an autosomal recessive lysosomal storage disease belonging to the oligosaccharidosis group (also called glycoproteinosis)." }, "child_count": 0, "reference_id": "MONDO:0008830" }, { "id": 10495, "label": "fucosidosis", "isLeaf": true, "isRoot": false, "parents": [ 19113, 24806 ], "type_id": 0, "properties": { "xrefs": [ "DOID:14500", "GARD:0006473", "ICD9:271.8", "MEDGEN:5288", "MESH:D005645", "NANDO:1200130", "NANDO:2200553", "NCIT:C61274", "NORD:1168", "OMIM:230000", "Orphanet:349", "SCTID:64716005", "UMLS:C0016788", "icd11.foundation:1470242510" ], "synonyms": [ "Alpha-L-fucosidase deficiency", "fucosidosis", "lysosomal storage disease caused by defective alpha-L-fucosidase with accumulation of fucose in the tissues" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" } ], "definition": "Fucosidosis is an extremely rare lysosomal storage disorder characterized by a highly variable phenotype with common manifestations including neurologic deterioration, coarse facial features, growth retardation, and recurrent sinopulmonary infections, as well as seizures, visceromegaly, angiokeratoma and dysostosis." }, "child_count": 0, "reference_id": "MONDO:0009254" }, { "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": 10782, "label": "alpha-mannosidosis", "isLeaf": false, "isRoot": false, "parents": [ 7019, 19113, 24806 ], "type_id": 0, "properties": { "xrefs": [ "DOID:3413", "GARD:0006968", "ICD9:271.8", "MEDGEN:7467", "MESH:D008363", "NANDO:1200126", "NCIT:C84548", "NORD:755", "OMIM:248500", "Orphanet:61", "SCTID:65524005", "UMLS:C0024748", "icd11.foundation:1944256516" ], "synonyms": [ "alpha-mannosidosis", "lysosomal alpha-D-mannosidase deficiency", "mannosidosis, alpha-, types I and II", "Alpha mannosidase B deficiency", "Alpha-mannosidase B deficiency", "MANSA", "lysosomal Alpha-D-mannosidase deficiency", "mannosidosis, ALPHA B, lysosomal", "mannosidosis, alpha B lysosomal" ], "categories": [ { "ref": "MONDO:0002022", "name": "disorder of orbital region" }, { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0024458", "name": "disorder of visual system" } ], "definition": "Alpha-mannosidosis is an inherited lysosomal storage disorder characterized by immune deficiency, facial and skeletal abnormalities, hearing impairment, and intellectual deficit." }, "child_count": 9, "reference_id": "MONDO:0009561" }, { "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": 10866, "label": "mucolipidosis type II", "isLeaf": true, "isRoot": false, "parents": [ 23871, 24806 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0080070", "GARD:0006749", "MEDGEN:435914", "MESH:C538602", "NANDO:1200124", "NANDO:2200567", "NCIT:C61270", "NORD:1279", "OMIM:252500", "Orphanet:576", "SCTID:70199000", "UMLS:C2673377" ], "synonyms": [ "I Cell Disease", "I-cell disease", "N-acetylglucosamine 1-phosphotransferase deficiency", "mucolipidosis type II", "mucolipidosis type II alpha/beta", "GNPTA", "I cell disease", "Leroy disease", "ML 2", "ML 2 Alpha/Beta", "ML disorder type 2", "N-acetylglucosamine 1phosphotransferase deficiency", "inclusion cell disease", "mucolipidosis 2", "mucolipidosis 2 alpha/beta", "mucolipidosis II alpha/beta" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" } ], "definition": "Mucolipidosis II (MLII) is a slowly progressive lysosomal disorder characterized by growth retardation, skeletal abnormalities, facial dysmorphism, stiff skin, developmental delay and cardiomegaly." }, "child_count": 0, "reference_id": "MONDO:0009650" }, { "id": 10867, "label": "GNPTG-mucolipidosis", "isLeaf": true, "isRoot": false, "parents": [ 22243, 24806 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0080678", "GARD:0017705", "MEDGEN:340743", "MESH:C565367", "NCIT:C129978", "OMIM:252605", "Orphanet:423470", "UMLS:C1854896" ], "synonyms": [ "GNPTG-mucolipidosis", "ML 3 gamma", "ML III gamma", "mucolipidosis type 3 gamma", "mucolipidosis type III gamma", "ML 3C", "mucolipidosis 3 gamma", "mucolipidosis 3C", "mucolipidosis III gamma", "mucolipidosis III, Iranian variant form", "mucolipidosis III, complementation group C", "mucolipidosis III, variant form" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" } ], "definition": "A very rare lysosomal disease, that has most often been observed in the Middle East, characterized by a progressive slowing of the growth rate in early childhood; stiffness and pain in shoulders, hips, and finger joints; a gradual, mild coarsening of facial features; and by a slower progression, milder clinical course and longer life expectancy than that seen in mucolipidosis II and mucolipidosis III alpha/beta. Cognitive function is normal or only slightly impaired and retinitis pigmentosa has been reported in a few patients. Many survive into early adulthood, but ultimately succumb to cardiorespiratory insufficiency." }, "child_count": 0, "reference_id": "MONDO:0009652" }, { "id": 10869, "label": "mucopolysaccharidosis type 3A", "isLeaf": true, "isRoot": false, "parents": [ 18859, 24806 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0111395", "GARD:0007071", "MEDGEN:39264", "NANDO:1200101", "NANDO:2201174", "NCIT:C84897", "OMIM:252900", "Orphanet:79269", "SCTID:41572006", "UMLS:C0086647", "icd11.foundation:182200345" ], "synonyms": [ "MPS III A", "MPS3A", "MPSIIIA", "Sanfilippo A", "Sanfilippo syndrome a", "Sanfilippo syndrome type A", "heparan sulfamidase deficiency", "mucopolysaccharidosis type 3A", "mucopolysaccharidosis type IIIA", "MPS 3A", "MPS IIIA", "heparan sulfate sulfatase deficiency", "heparan sulphate sulfatase deficiency", "heparane sulfamidase deficiency", "mucopoly-saccharidosis type 3A", "mucopolysaccharidosis, type 3A", "mucopolysaccharidosis, type IIIA", "sulfamidase deficiency" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "A rare autosomal recessive lysosomal storage disease caused by deficiency of the enzyme heparan sulfate sulfatase. It is characterized by behavioral changes, sleep disturbances, mental developmental delays and seizures." }, "child_count": 0, "reference_id": "MONDO:0009655" }, { "id": 10870, "label": "mucopolysaccharidosis type 3B", "isLeaf": true, "isRoot": false, "parents": [ 18859, 24806 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0111394", "GARD:0007072", "MEDGEN:88601", "NANDO:1200102", "NANDO:2201175", "NCIT:C84898", "OMIM:252920", "Orphanet:79270", "SCTID:59990008", "UMLS:C0086648", "icd11.foundation:117303909" ], "synonyms": [ "MPS III B", "MPS3B", "MPSIIIB", "N-acetyl-alpha-glucosaminidase deficiency", "Sanfilippo B", "Sanfilippo syndrome B", "Sanfilippo syndrome type B", "mucopolysaccharidosis type 3B", "mucopolysaccharidosis type IIIB", "MPS 3B", "MPS IIIB", "Mucopoly-saccharidosis type 3B", "N-Acetyl-Alpha-D-glucosaminidase deficiency", "NAGLU deficiency", "mucopolysaccharidosis, type 3B", "mucopolysaccharidosis, type IIIB" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "A rare autosomal recessive lysosomal storage disease caused by deficiency of the enzyme N-acetyl-alpha-D-glucosaminidase. It is characterized by behavioral changes, sleep disturbances, and mental developmental delays." }, "child_count": 0, "reference_id": "MONDO:0009656" }, { "id": 10871, "label": "mucopolysaccharidosis type 3C", "isLeaf": true, "isRoot": false, "parents": [ 18859, 24806 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0111393", "GARD:0007073", "MEDGEN:39477", "NANDO:1200103", "NANDO:2201176", "NCIT:C84899", "OMIM:252930", "Orphanet:79271", "SCTID:75238000", "UMLS:C0086649", "icd11.foundation:1755913480" ], "synonyms": [ "HGSNAT deficiency", "MPS III C", "MPS3C", "MPSIIIC", "Sanfilippo C", "Sanfilippo syndrome type C", "heparan-alpha-glucosaminide N-acetyltransferase deficiency", "mucopolysaccharidosis type 3C", "mucopolysaccharidosis type IIIC", "Acetyl-CoA alpha-glucosaminide n-acetyltransferase deficiency", "MPS 3C", "MPS IIIC", "Mucopoly-saccharidosis type 3C", "Sanfilippo syndrome C", "acetyl-CoA:alpha-glucosaminide N-acetyltransferase deficiency", "mucopolysaccharidosis, type 3C", "mucopolysaccharidosis, type IIIC" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "A rare autosomal recessive lysosomal storage disease caused by deficiency of the enzyme acetyl-CoA:alpha-glucosaminide acetyltransferase. It is characterized by behavioral changes, sleep disturbances, and mental developmental delays." }, "child_count": 0, "reference_id": "MONDO:0009657" }, { "id": 10872, "label": "mucopolysaccharidosis type 3D", "isLeaf": true, "isRoot": false, "parents": [ 18859, 24806 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0111402", "GARD:0007074", "MEDGEN:88602", "NANDO:1200104", "NANDO:2201177", "NCIT:C84900", "OMIM:252940", "Orphanet:79272", "SCTID:15892005", "UMLS:C0086650", "icd11.foundation:1780990193" ], "synonyms": [ "GNS deficiency", "MPS III D", "MPS3D", "MPSIIID", "Sanfilippo D", "Sanfilippo syndrome D", "Sanfilippo syndrome type D", "glucosamine N-acetyl-6-sulfatase deficiency", "mucopolysaccharidosis type 3D", "mucopolysaccharidosis type IIID", "MPS 3D", "MPS IIID", "Mucopoly-saccharidosis type 3D", "N-acetylglucosamine-6-sulfatase deficiency", "N-acetylglucosamine-6-sulfate sulfatase deficiency", "mucopolysaccharidosis, type 3D", "mucopolysaccharidosis, type IIID" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "A rare autosomal recessive lysosomal storage disease caused by deficiency of the enzyme N-acetylglucosamine-6-sulfatase. It is characterized by behavioral changes, sleep disturbances and mental developmental delays." }, "child_count": 0, "reference_id": "MONDO:0009658" }, { "id": 10873, "label": "mucopolysaccharidosis type 4A", "isLeaf": true, "isRoot": false, "parents": [ 18860, 24806 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0111391", "GARD:0003785", "ICD10CM:E76.210", "MEDGEN:43375", "NANDO:1200106", "NANDO:2201178", "NCIT:C84901", "OMIM:253000", "Orphanet:309297", "SCTID:7259005", "UMLS:C0086651", "icd11.foundation:1919173641" ], "synonyms": [ "Morquio A disease", "GALNS deficiency", "MPS IV A", "MPS4A", "MPSIVA", "Morquio disease type A", "Morquio syndrome A", "N-acetylgalactosamine-6-sulfate sulfatase deficiency", "galactosamine-6-sulfatase deficiency", "mucopolysaccharidosis type 4A", "mucopolysaccharidosis type IVA", "MPS 4A", "MPS IVA", "mucopolysaccharidosis, type 4A", "mucopolysaccharidosis, type IVA" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "A rare autosomal recessive lysosomal storage disease caused by deficiency of the enzyme galactosamine-6-sulfatase. It is characterized by skeletal and central nervous system deficits." }, "child_count": 0, "reference_id": "MONDO:0009659" }, { "id": 10874, "label": "mucopolysaccharidosis type 4B", "isLeaf": true, "isRoot": false, "parents": [ 18860, 24806 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0111392", "GARD:0003786", "ICD10CM:E76.211", "MEDGEN:43376", "NANDO:1200107", "NANDO:2201179", "NCIT:C84902", "OMIM:253010", "Orphanet:309310", "SCTID:238044004", "UMLS:C0086652", "icd11.foundation:1479415032" ], "synonyms": [ "Beta-D-galactosidase deficiency", "MPS 4B", "MPS IV B", "MPS4B", "MPSIVB", "Morquio disease type B", "Morquio syndrome B", "mucopolysaccharidosis type IVB", "MPS IVB", "mucopolysaccharidosis, type 4B", "mucopolysaccharidosis, type IVB" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "A rare autosomal recessive lysosomal storage disease caused by deficiency of the enzyme beta galactosidase. It is characterized by skeletal dysplasia and short stature." }, "child_count": 0, "reference_id": "MONDO:0009660" }, { "id": 10875, "label": "mucopolysaccharidosis type 6", "isLeaf": false, "isRoot": false, "parents": [ 4370, 7019, 19111, 24806 ], "type_id": 0, "properties": { "xrefs": [ "DOID:12800", "GARD:0007095", "MEDGEN:44514", "MESH:D009087", "MedDRA:10056892", "NANDO:1200108", "NANDO:1200109", "NANDO:1200110", "NANDO:2200551", "NCIT:C61264", "NORD:1405", "OMIM:253200", "Orphanet:583", "SCTID:52677002", "SCTID:69463008", "UMLS:C0026709", "icd11.foundation:1288379621" ], "synonyms": [ "ARSB deficiency", "ASB deficiency", "MPS6", "MPSVI", "Maroteaux Lamy Syndrome", "Maroteaux-Lamy disease", "Maroteaux-Lamy syndrome", "N-acetylgalactosamine 4-sulfatase deficiency", "arylsulfatase B deficiency", "mucopolysaccharidosis type VI", "mucopolysaccharidosis type VI (Maroteaux-Lamy)", "Arsb deficiency", "MPS 6", "MPS VI", "Maroteaux Lamy syndrome", "Mucopoly-saccharidosis type VI", "N-acetylgalactosamine-4-sulfatase deficiency", "mucopolysaccharidosis VI" ], "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": "Mucopolysaccharidosis type 6 (MPS 6) is a lysosomal storage disease with progressive multisystem involvement, associated with a deficiency of arylsulfatase B (ASB) leading to the accumulation of dermatan sulfate." }, "child_count": 8, "reference_id": "MONDO:0009661" }, { "id": 10876, "label": "mucopolysaccharidosis type 7", "isLeaf": true, "isRoot": false, "parents": [ 19111, 24806 ], "type_id": 0, "properties": { "xrefs": [ "DOID:12803", "GARD:0007096", "MEDGEN:43108", "MESH:D016538", "MedDRA:10056893", "NANDO:1200111", "NANDO:2200552", "NCIT:C84903", "NORD:1722", "OMIM:253220", "Orphanet:584", "SCTID:43916004", "UMLS:C0085132", "icd11.foundation:1563668250" ], "synonyms": [ "Beta-glucuronidase deficiency", "MPS7", "MPSVII", "Mucopolysaccharidosis Type VII", "Sly disease", "Sly syndrome", "beta-glucuronidase deficiency", "mucopolysaccharidosis type 7", "mucopolysaccharidosis type VII", "mucopolysaccharidosis, mps-VII", "Gus deficiency", "Gusb deficiency", "MPS 7", "MPS VII", "MPS VII - mucopolysaccharidosis VII", "gusb deficiency", "mucopolysaccharidosis, type 7", "mucopolysaccharidosis, type VII" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" } ], "definition": "Mucopolysaccharidosis type VII (MPS VII) is a very rare lysosomal storage disease belonging to the group of mucopolysaccharidoses." }, "child_count": 0, "reference_id": "MONDO:0009662" }, { "id": 10949, "label": "galactosialidosis", "isLeaf": true, "isRoot": false, "parents": [ 7019, 19113, 24806 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0080540", "GARD:0003953", "ICD9:277.6", "MEDGEN:82779", "MESH:C536411", "NANDO:1200119", "NANDO:2200557", "NCIT:C129928", "OMIM:256540", "Orphanet:351", "SCTID:35691006", "UMLS:C0268233", "icd11.foundation:1838660035" ], "synonyms": [ "Goldberg syndrome", "galactosialidosis", "neuraminidase deficiency with beta-galactosidase deficiency", "GSL", "PPCA deficiency", "cathepsin A deficiency", "cathepsin A deficiency of", "lysosomal protective Protein deficiency", "lysosomal protective protein deficiency of", "neuraminidase/Beta-galactosidase expression", "protective Protein/Cathepsin a deficiency" ], "categories": [ { "ref": "MONDO:0002022", "name": "disorder of orbital region" }, { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0024458", "name": "disorder of visual system" } ], "definition": "A lysosomal storage disease characterized by coarse facial features, macular ''cherry red spot'', and dysostosis multiplex. Clinical presentation can be heterogenous ranging from a severe, early-onset, rapidly progressive infantile form to late onset, slowly progressive juvenile/adult form." }, "child_count": 0, "reference_id": "MONDO:0009737" }, { "id": 10950, "label": "sialidosis type 2", "isLeaf": false, "isRoot": false, "parents": [ 17967, 22243, 24806 ], "type_id": 0, "properties": { "xrefs": [ "DOID:3343", "GARD:0007183", "MEDGEN:924303", "MESH:C562606", "NANDO:1200118", "NANDO:1200120", "NANDO:2201192", "NANDO:2201193", "NCIT:C125596", "OMIM:256150", "OMIM:256550", "Orphanet:87876", "SCTID:52186006", "SCTID:81896006", "UMLS:C4282398", "icd11.foundation:1855856697" ], "synonyms": [ "sialidosis", "NEU1 sialidosis", "dysmorphic sialidosis", "dysmorphic sialidosis with renal involvement", "infantile dysmorphic sialidosis", "mucolipidosis I", "nephrosialidosis", "sialidosis caused by mutation in NEU1", "sialidosis type II", "sialidosis, type 2", "sialidosis, type I", "ML 1", "ML1", "NEU 1 deficiency", "Neu deficiency", "Neu1 deficiency", "Neug deficiency", "cherry Red spot--myoclonus syndrome", "glycoprotein neuraminidase deficiency", "glycoproteinosis", "lipomucopolysaccharidosis", "mucolipidosis 1", "mucolipidosis type 1", "myoclonus--cherry Red spot syndrome", "neuraminidase 1 deficiency", "neuraminidase deficiency", "sialidase deficiency", "sialidosis, type 1", "sialidosis, type II" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" } ], "definition": "A rare lysosomal storage disease, and the severe, early onset form of sialidosis characterized by a progressively severe mucopolysaccharidosis-like phenotype (coarse facies, dysostosis multiplex, hepatosplenomegaly), macular cherry-red spots as well as psychomotor and developmental delay. ST-2 displays a broad spectrum of clinical severity with antenatal/congenital, infantile and juvenile presentations." }, "child_count": 6, "reference_id": "MONDO:0009738" }, { "id": 11221, "label": "free sialic acid storage disease, infantile form", "isLeaf": true, "isRoot": false, "parents": [ 17944, 19200, 24806 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0000175", "MEDGEN:203367", "MedDRA:10067532", "NANDO:1200147", "NANDO:2201237", "OMIM:269920", "Orphanet:309324", "SCTID:34566007", "UMLS:C1096902" ], "synonyms": [ "ISSD", "sialic acid storage disorder, infantile", "N-acetylneuraminic acid storage disease", "Nana storage disease", "infantile free sialic acid storage disease", "infantile sialic acid storage disease", "infantile sialic acid storage disorder", "sialuria, infantile form" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" } ] }, "child_count": 0, "reference_id": "MONDO:0010027" }, { "id": 11275, "label": "mucosulfatidosis", "isLeaf": true, "isRoot": false, "parents": [ 4198, 16198, 19116, 24806 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0050441", "GARD:0005061", "MEDGEN:75664", "MESH:D052517", "NANDO:1200083", "NANDO:1200624", "NANDO:2200566", "NCIT:C84908", "NORD:1471", "OMIM:272200", "Orphanet:585", "SCTID:54898003", "UMLS:C0268263", "icd11.foundation:848083807" ], "synonyms": [ "MSD", "Multiple Sulfatase Deficiency", "juvenile sulfatidosis, Austin type", "mucosulfatidosis", "multiple sulfatase deficiency disease", "sulfatidosis, juvenile, Austin type", "juvenile sulfatidosis", "multiple sulfatase deficiency", "sulfatidosis juvenile, Austin type" ], "categories": [ { "ref": "MONDO:0002051", "name": "integumentary system disorder" }, { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" } ], "definition": "Multiple sulfatase deficiency (MSD) is a very rare and fatal lysosomal storage disease characterized by a clinical phenotype that combines the features of different sulfatase deficiencies (whether lysosomal or not) that can have neonatal (most severe), infantile (most common) and juvenile (rare) presentations with manifestations including hypotonia, coarse facial features, mild deafness, skeletal anomalies, ichthyosis, hepatomegaly, developmental delay, progressive neurologic deterioration and hydrocephalus." }, "child_count": 0, "reference_id": "MONDO:0010088" }, { "id": 11819, "label": "mucopolysaccharidosis type 2", "isLeaf": false, "isRoot": false, "parents": [ 4370, 19111, 24806 ], "type_id": 0, "properties": { "xrefs": [ "DOID:12799", "GARD:0006675", "ICD10CM:E76.1", "MEDGEN:7734", "MESH:D016532", "MedDRA:10056889", "NANDO:1200097", "NANDO:2200548", "NCIT:C61260", "NORD:1255", "OMIM:309900", "Orphanet:580", "Orphanet:79388", "SCTID:70737009", "UMLS:C0026705", "icd11.foundation:1056274204" ], "synonyms": [ "Hunter syndrome", "Hunter's syndrome", "I2S deficiency", "IDS deficiency", "MPS 2", "MPS II", "MPS with skin involvement", "MPS2", "MPSII", "Mucopolysaccharidosis Type II", "SIDS deficiency", "attenuated MPS (subtype; formerly known as mild MPS II)", "iduronate 2-sulfatase deficiency", "mucopolysaccharidosis II, X-linked recessive", "mucopolysaccharidosis type 2", "mucopolysaccharidosis type II", "mucopolysaccharidosis with skin involvement", "mucopolysaccharidosis, type 2", "mucopolysaccharidosis, type II", "severe MPS II", "sulfoiduronate sulfatase deficiency" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "A lysosomal storage disease leading to a massive accumulation of glycosaminoglycans and a wide variety of symptoms including distinctive coarse facial features, short stature, cardio-respiratory involvement and skeletal abnormalities. It manifests as a continuum varying from a severe to an attenuated form without neuronal involvement." }, "child_count": 6, "reference_id": "MONDO:0010674" }, { "id": 12844, "label": "Hurler syndrome", "isLeaf": true, "isRoot": false, "parents": [ 3787, 4370, 24806 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0111390", "GARD:0012559", "MEDGEN:39698", "NANDO:1200094", "NANDO:2201168", "NCIT:C61261", "OMIM:607014", "Orphanet:93473", "SCTID:65327002", "UMLS:C0086795" ], "synonyms": [ "Hurler disease", "Hurler syndrome", "MPS I H", "MPS1H", "MPSIH", "mucopolysaccharidosis type 1H", "mucopolysaccharidosis type IH", "MPS1-H", "mucopolysaccharidosis IH" ], "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": "Hurler syndrome is the most severe form of mucopolysaccharidosis type 1 (MPS1), a rare lysosomal storage disease, characterized by skeletal abnormalities, cognitive impairment, heart disease, respiratory problems, enlarged liver and spleen, characteristic facies and reduced life expectancy." }, "child_count": 0, "reference_id": "MONDO:0011758" }, { "id": 12845, "label": "Hurler-Scheie syndrome", "isLeaf": true, "isRoot": false, "parents": [ 3787, 4370, 24806 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0111389", "GARD:0012560", "ICD10CM:E76.02", "MEDGEN:88566", "MedDRA:10056916", "NANDO:1200096", "NANDO:2201170", "NCIT:C122782", "OMIM:607015", "Orphanet:93476", "SCTID:26745009", "UMLS:C0086431" ], "synonyms": [ "Hurler-Scheie syndrome", "MPS I H-S", "MPS1H/S", "MPSIH/S", "mucopolysaccharidosis type 1H/S", "mucopolysaccharidosis type IH/S", "mucopolysaccharidosis, mps-I-s", "Hurler–Scheie syndrome", "MPS1-HS", "Scheie disease mps type 1s", "Scheie's syndrome", "l-iduronidase deficiency, Scheie type", "mucopolysaccharidosis IH/S", "mucopolysaccharidosis type I mild form", "mucopolysaccharidosis type I-S", "mucopolysaccharidosis type Ih/S" ], "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": "Hurler-Scheie syndrome is the intermediate form of mucopolysaccharidosis type 1 (MPS1) between the two extremes Hurler syndrome and Scheie syndrome ; it is a rare lysosomal storage disease, characterized by skeletal deformities and a delay in motor development." }, "child_count": 0, "reference_id": "MONDO:0011759" }, { "id": 12846, "label": "Scheie syndrome", "isLeaf": true, "isRoot": false, "parents": [ 3787, 4370, 24806 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0060222", "GARD:0012561", "MEDGEN:6453", "NANDO:1200095", "NANDO:2201169", "NCIT:C61265", "OMIM:607016", "Orphanet:93474", "SCTID:73123008", "UMLS:C0026708" ], "synonyms": [ "MPS I S", "MPS1S", "MPSIS", "Scheie syndrome", "mucopolysaccharidosis type 1S", "mucopolysaccharidosis type IS", "MPS V", "MPS V, formerly", "MPS1-S", "MPS5, formerly", "mucopolysaccharidosis Is", "mucopolysaccharidosis type V, formerly" ], "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": "Scheie syndrome is the mildest form of mucopolysaccharidosis type 1 (MPS1), a rare lysosomal storage disease, characterized by skeletal deformities and a delay in motor development." }, "child_count": 0, "reference_id": "MONDO:0011760" }, { "id": 15988, "label": "mucopolysaccharidosis-plus syndrome", "isLeaf": true, "isRoot": false, "parents": [ 6815, 16087, 16198, 24093, 24806 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0017944", "MEDGEN:934594", "OMIM:617303", "Orphanet:505248", "SCTID:1187113001", "UMLS:C4310627" ], "synonyms": [ "MPSPS", "mucopolysaccharidosis-like plus disease", "mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disorders", "mucopolysaccharidosis-plus syndrome" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0005087", "name": "respiratory system disorder" } ] }, "child_count": 0, "reference_id": "MONDO:0015012" }, { "id": 18854, "label": "mucolipidosis type III, alpha/beta", "isLeaf": true, "isRoot": false, "parents": [ 22243, 23871, 24806 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0080071", "GARD:0017704", "MEDGEN:10988", "NANDO:1200125", "NANDO:2200568", "NORD:1624", "OMIM:252600", "Orphanet:423461", "Orphanet:577", "SCTID:65764006", "UMLS:C0033788" ], "synonyms": [ "ML 3", "ML3", "mucolipidosis 3", "mucolipidosis III", "ML 3 alpha/beta", "ML III alpha/beta", "MLIII", "Pseudo Hurler Polydystrophy", "mucolipidosis type 3 alpha/beta", "mucolipidosis type III", "pseudo-Hurler polydystrophy", "ML 3 A", "ML 3 Alpha/Beta", "mucolipidosis 3 Alpha/Beta", "mucolipidosis 3 Alpha/Beta, atypical", "mucolipidosis 3A", "mucolipidosis III ALPHA/BETA", "mucolipidosis type 3A", "mucolipidosis type III alpha/beta" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" } ], "definition": "Mucolipidosis III alpha/beta (MLIII alpha/beta) is a lysosomal disorder characterized by progressive slowing of the growth rate from early childhood, stiffness and pain in joints, gradual coarsening of facial features, moderate developmental delay and mild intellectual disability in most patients." }, "child_count": 0, "reference_id": "MONDO:0018931" } ], "roots": [ { "id": 18360, "label": "skeletal dysplasia" } ] }