{ "bcoid": "GLY_000526", "title": "Disease Names", "description": "", "filename": "protein_disease_names.csv", "filetype": "csv", "categories": { "molecule": "Protein", "tags": "Disease Names", "file_type": "csv", "status": "Reviewed", "scope": "internal" }, "minitable": { "content": [ [ "0011078...", "mondo..." ], [ "0011078...", "mondo..." ] ], "headers": [ "xref_id...", "xref_key..." ], "colwidth": [ "40%", "20%" ] }, "sampledata": { "type": "table", "data": [ [ { "type": "string", "label": "xref_id" }, { "type": "string", "label": "xref_key" }, { "type": "string", "label": "name_type" }, { "type": "string", "label": "name" }, { "type": "string", "label": "description" } ], [ "0011078", "mondo", "recommended_name", "anterior chamber cleavage disorder, cerebellar hypoplasia, hypothyroidism, and tracheal stenosis", "" ], [ "0011078", "mondo", "synonym", "anterior chamber cleavage disorder, cerebellar hypoplasia, hypothyroidism, and tracheal stenosis", "" ], [ "0011078", "mondo", "synonym", "Jung Wolff back Stahl syndrome", "" ], [ "0011079", "mondo", "recommended_name", "rhizomelic dysplasia, Patterson-Lowry type", "Rhizomelic dysplasia, Patterson-Lowry type is a rare primary bone dysplasia characterized by short stature, severe rhizomelic shortening of the upper limbs associated with specific malformations of humeri (including marked widening and flattening of proximal metaphyses, medial flattening of the proximal epiphyses, and lateral bowing with medial cortical thickening of the proximal diaphyses), marked coxa vara with dysplastic femoral heads and brachimetacarpalia." ], [ "0011079", "mondo", "synonym", "rhizomelic dysplasia, Patterson-Lowry type", "" ], [ "0011079", "mondo", "synonym", "Patterson-Lowry rhizomelic dysplasia", "" ], [ "0011079", "mondo", "synonym", "Patterson Lowry syndrome", "" ], [ "0011079", "mondo", "synonym", "rhizomelic dysplasia Patterson Lowry type", "" ], [ "0011070", "mondo", "recommended_name", "van Maldergem syndrome 1", "Any van Maldergem syndrome in which the cause of the disease is a mutation in the DCHS1 gene." ], [ "0011070", "mondo", "synonym", "DCHS1 van Maldergem syndrome", "" ], [ "0011070", "mondo", "synonym", "Van Maldergem syndrome type 1", "" ], [ "0011070", "mondo", "synonym", "VAN Maldergem syndrome 1; VMLDS1", "" ], [ "0011070", "mondo", "synonym", "van Maldergem syndrome 1", "" ], [ "0011070", "mondo", "synonym", "VMLDS1", "" ], [ "0011070", "mondo", "synonym", "van Maldergem syndrome caused by mutation in DCHS1", "" ], [ "0011070", "mondo", "synonym", "Cerebrofacioarticular syndrome", "" ], [ "0011071", "mondo", "recommended_name", "hereditary thrombocytopenia with normal platelets-hematological cancer predisposition syndrome", "Familial platelet disorder with predisposition to acute myelogenous leukemia (FPD/AML) is characterised by moderate thrombocytopenia, abnormal platelet function and the propensity to develop myeloid malignancies, in particular AML." ], [ "0011071", "mondo", "synonym", "asprin-like platelet disorder", "" ], [ "0011071", "mondo", "synonym", "familial platelet disorder with associated myeloid malignancy", "" ], [ "0011071", "mondo", "synonym", "platelet disorder, aspirin-like", "" ], [ "0011071", "mondo", "synonym", "FPS/AML syndrome", "" ], [ "0011071", "mondo", "synonym", "FPDMM", "" ], [ "0011071", "mondo", "synonym", "FPD/AML syndrome", "" ], [ "0011071", "mondo", "synonym", "familial thrombocytopenia with propensity to acute myelogenous leukemia", "" ], [ "0011071", "mondo", "synonym", "platelet disorder, familial, with associated myeloid malignancy", "" ], [ "0011071", "mondo", "synonym", "platelet disorder, familial, with associated myeloid malignancy; FPDMM", "" ], [ "0011071", "mondo", "synonym", "familial platelet syndrome with predisposition to acute myelogenous leukemia", "" ], [ "0011071", "mondo", "synonym", "thrombocytopenia, familial, with propensity to acute myelogenous leukemia", "" ], [ "0011072", "mondo", "recommended_name", "NIDDM2", "" ], [ "0011072", "mondo", "synonym", "NIDDM2", "" ], [ "0011072", "mondo", "synonym", "noninsulin-dependent diabetes mellitus 2", "" ], [ "0011072", "mondo", "synonym", "diabetes mellitus, noninsulin-dependent, 2", "" ], [ "0011072", "mondo", "synonym", "diabetes mellitus, noninsulin-dependent, 2; NIDDM2", "" ], [ "0011073", "mondo", "recommended_name", "diabetes mellitus, transient neonatal, 1", "" ], [ "0011073", "mondo", "synonym", "diabetes mellitus, transient neonatal, 1", "" ], [ "0011073", "mondo", "synonym", "Dmtn", "" ], [ "0011073", "mondo", "synonym", "Tndm", "" ], [ "0011073", "mondo", "synonym", "diabetes mellitus, transient neonatal, type 1", "" ], [ "0011073", "mondo", "synonym", "Tndm1", "" ], [ "0011074", "mondo", "recommended_name", "autosomal dominant nonsyndromic deafness 7", "An autosomal dominant nonsyndromic deafness that is characterized by progressive high-tone hearing loss and has_material_basis_in variation in the chromosome region 1q21-q23." ], [ "0011074", "mondo", "synonym", "DFNA7", "" ], [ "0011074", "mondo", "synonym", "deafness, autosomal dominant 7", "" ], [ "0011074", "mondo", "synonym", "autosomal dominant nonsyndromic deafness type 7", "" ], [ "0011074", "mondo", "synonym", "autosomal dominant deafness 7", "" ], [ "0011074", "mondo", "synonym", "deafness, autosomal dominant 7; DFNA7", "" ], [ "0011075", "mondo", "recommended_name", "retinitis pigmentosa 18", "Any retinitis pigmentosa in which the cause of the disease is a mutation in the PRPF3 gene." ], [ "0011075", "mondo", "synonym", "retinitis pigmentosa 18; RP18", "" ], [ "0011075", "mondo", "synonym", "retinitis pigmentosa type 18", "" ], [ "0011075", "mondo", "synonym", "retinitis pigmentosa caused by mutation in PRPF3", "" ], [ "0011075", "mondo", "synonym", "RP 18", "" ], [ "0011075", "mondo", "synonym", "PRPF3 retinitis pigmentosa", "" ], [ "0011075", "mondo", "synonym", "RP18", "" ], [ "0011075", "mondo", "synonym", "retinitis pigmentosa 18", "" ], [ "0011076", "mondo", "recommended_name", "myofibrillar myopathy 1", "Desminopathy is a rare genetic skeletal muscle disease characterized by abnormal chimeric aggregates of desmin and other cytoskeletal proteins and granulofilamentous material at the ultrastructural level in muscle biopsies and variable clinical/ myopathological features, age of disease onset and rate of disease progression. Patients present with bilateral skeletal muscle weakness that starts in distal leg muscles and spreads proximally, sometimes involving trunk, neck flexors and facial muscles and often cardiomyopathy manifested by conduction blocks, arrhythmias, chronic heart failure, and sometimes tachyarrhythmia. Weakness eventually leads to wheelchair dependence. Respiratory insufficiency can be a major cause of disability and death, beginning with nocturnal hyperventilation with oxygen desaturation and progressing to daytime respiratory failure." ], [ "0011076", "mondo", "synonym", "cardiomyopathy, dilated, with conduction defect and muscular dystrophy", "" ], [ "0011076", "mondo", "synonym", "arrhythmogenic right ventricular dysplasia, familial, 7, formerly", "" ], [ "0011076", "mondo", "synonym", "IBM1", "" ], [ "0011076", "mondo", "synonym", "arrhythmogenic right ventricular cardiomyopathy 7", "" ], [ "0011076", "mondo", "synonym", "cardiomyopathy, dilated, 1F and limb-girdle muscular dystrophy type 1D", "" ], [ "0011076", "mondo", "synonym", "CMD1F and LGMD1D, formerly", "" ], [ "0011076", "mondo", "synonym", "myopathy, myofibrillar, type 1", "" ], [ "0011076", "mondo", "synonym", "arrhythmogenic right ventricular dysplasia, familial, 7", "" ], [ "0011076", "mondo", "synonym", "myopathy, myofibrillar, 1", "" ], [ "0011076", "mondo", "synonym", "desmin-related myopathy with arrhythmogenic right ventricular cardiomyopathy", "" ], [ "0011076", "mondo", "synonym", "myofibrillar myopathy type 1", "" ], [ "0011076", "mondo", "synonym", "desmin-related myofibrillar myopathy", "" ], [ "0011076", "mondo", "synonym", "myofibrillar myopathy (disease) caused by mutation in DES", "" ], [ "0011076", "mondo", "synonym", "myopathy, myofibrillar, desmin-related", "" ], [ "0011076", "mondo", "synonym", "desminopathy", "" ], [ "0011076", "mondo", "synonym", "desminopathy, primary", "" ], [ "0011076", "mondo", "synonym", "MFM1", "" ], [ "0011076", "mondo", "synonym", "myopathy, myofibrillar, 1; MFM1", "" ], [ "0011076", "mondo", "synonym", "inclusion body myopathy 1, autosomal dominant, formerly", "" ], [ "0011076", "mondo", "synonym", "CMD1F and LGMD1D", "" ], [ "0011076", "mondo", "synonym", "DES myofibrillar myopathy (disease)", "" ], [ "0011076", "mondo", "synonym", "myofibrillar myopathy with arrhythmogenic right ventricular cardiomyopathy", "" ], [ "0011076", "mondo", "synonym", "cardiomyopathy, dilated, 1F and limb-girdle muscular dystrophy type 1D, formerly", "" ], [ "0011076", "mondo", "synonym", "arrhythmogenic right ventricular cardiomyopathy 7, formerly", "" ], [ "0011076", "mondo", "synonym", "desmin-related myopathy", "" ], [ "0011076", "mondo", "synonym", "inclusion body myopathy 1, autosomal dominant", "" ], [ "0011077", "mondo", "recommended_name", "microcephaly, corpus callosum dysgenesis, and cleft lip/palate", "" ], [ "0011077", "mondo", "synonym", "microcephaly, corpus callosum dysgenesis, and cleft lip/palate", "" ], [ "0011077", "mondo", "synonym", "microcephaly, facial clefting, and preaxial polydactyly", "" ], [ "0011077", "mondo", "synonym", "microcephaly, corpus callosum dysgenesis and cleft lip-palate", "" ] ] }, "readme": "Name\n - Disease Names\n\nVersion\n - 1.7.10\n\nCreated on\n - 2020-08-19T14:13:07.626533\n\nModified on\n - 2020-08-19T14:15:31.389234\n\nCreated by\n - Jeet Vora [jeetvora@gwu.edu], Rahi Navelkar [rsn13@gwu.edu], Robel Kahsay [rykahsay@gwu.edu]\n\nAuthors\n - \n\nChecksum\n - \n\nUsability Domain\n - \n - \n\nExecution Domain\n Scripts\n\n Software Prerequisites\n\nI/O Domain\n Output Subdomain\n Name: protein_disease_names.csv\n URI: http://data.glygen.org/ln2data/releases/data/v-1.7.10/reviewed/protein_disease_names.csv\n Name: protein_disease_names.stat.csv\n URI: http://data.glygen.org/ln2data/releases/data/v-1.7.10/reviewed/protein_disease_names.stat.csv\n\nFields\n Name: \"name\"\n Description: \"\"\n Unique Values: \"130518\"\n Name: \"description\"\n Description: \"\"\n Unique Values: \"28007\"\n Name: \"name_type\"\n Description: \"\"\n Unique Values: \"2\"\n Name: \"xref_id\"\n Description: \"ID of the X-ref\"\n Unique Values: \"49202\"\n Name: \"xref_key\"\n Description: \"Source key associated to the xref_id\"\n Unique Values: \"3\"", "downloadurl": "/ln2data/releases/data/v-1.7.10/reviewed/protein_disease_names.csv" }