{ "bcoid": "GLY_000526", "title": "Disease Names", "description": "", "filename": "protein_disease_names.csv", "filetype": "csv", "categories": { "molecule": [ "Protein" ], "tag": [ "Disease Names" ], "file_type": [ "csv" ], "status": [ "Reviewed" ], "scope": [ "internal" ] }, "minitable": { "content": [ [ "0033717...", "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" } ], [ "0033717", "mondo", "recommended_name", "congenital cerebellar ataxia due to RNU12 mutation", "A rare hereditary ataxia characterized by delayed motor milestones in early infancy, hypotonia, ataxic gait, intention tremor, nystagmus, dysarthric speech, and variable learning difficulties. Neuroimaging shows a mixed picture of cerebellar hypoplasia and degeneration, with an almost absent inferior lobule and thinning of the folia of the vermis. In addition, cisterna magna and fourth ventricle are enlarged with relative sparing of the brain stem volume." ], [ "0011078", "mondo", "recommended_name", "anterior chamber cleavage disorder, cerebellar hypoplasia, hypothyroidism, and tracheal stenosis", "A rare, congenital malformation syndrome characterized by the association of anterior ocular chamber cleavage disorder with developmental delay, short stature and congenital hypothyroidism. Additional manifestations include cerebellar hypoplasia, tracheal stenosis, narrow external auditory meatus, and hip dislocation. There have been no further description in the literature since 1995." ], [ "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 syndrome", "" ], [ "0011079", "mondo", "synonym", "Patterson-Lowry rhizomelic dysplasia", "" ], [ "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", "" ], [ "0011070", "mondo", "synonym", "van Maldergem syndrome caused by mutation in DCHS1", "" ], [ "0011070", "mondo", "synonym", "Cerebrofacioarticular syndrome", "" ], [ "0011070", "mondo", "synonym", "VAN Maldergem syndrome 1", "" ], [ "0011070", "mondo", "synonym", "VMLDS1", "" ], [ "0011071", "mondo", "recommended_name", "hereditary thrombocytopenia and hematologic cancer predisposition syndrome", "The disorder is characterized by thrombocytopenia of varying severity and a predisposition to hematologic malignancies. It may be caused due to germ line variations in the RUNX1, ETV6 or ANKRD26 genes." ], [ "0011071", "mondo", "synonym", "hereditary thrombocytopenia and hematologic cancer predisposition syndrome", "" ], [ "0011072", "mondo", "recommended_name", "diabetes mellitus, noninsulin-dependent, 2", "" ], [ "0011072", "mondo", "synonym", "NIDDM2", "" ], [ "0011072", "mondo", "synonym", "diabetes mellitus, noninsulin-dependent, 2", "" ], [ "0011072", "mondo", "synonym", "noninsulin-dependent diabetes mellitus 2", "" ], [ "0011073", "mondo", "recommended_name", "diabetes mellitus, transient neonatal, 1", "" ], [ "0011073", "mondo", "synonym", "diabetes mellitus, transient neonatal 1", "" ], [ "0011073", "mondo", "synonym", "diabetes mellitus, transient neonatal, 1", "" ], [ "0011073", "mondo", "synonym", "diabetes mellitus, transient neonatal, type 1", "" ], [ "0011073", "mondo", "synonym", "Dmtn", "" ], [ "0011073", "mondo", "synonym", "Tndm", "" ], [ "0011073", "mondo", "synonym", "Tndm1", "" ], [ "0011074", "mondo", "recommended_name", "autosomal dominant nonsyndromic hearing loss 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", "autosomal dominant deafness 7", "" ], [ "0011074", "mondo", "synonym", "autosomal dominant nonsyndromic deafness 7", "" ], [ "0011074", "mondo", "synonym", "autosomal dominant nonsyndromic deafness type 7", "" ], [ "0011074", "mondo", "synonym", "deafness, autosomal dominant 7", "" ], [ "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", "PRPF3 retinitis pigmentosa", "" ], [ "0011075", "mondo", "synonym", "RP18", "" ], [ "0011075", "mondo", "synonym", "retinitis pigmentosa 18", "" ], [ "0011075", "mondo", "synonym", "retinitis pigmentosa caused by mutation in PRPF3", "" ], [ "0011075", "mondo", "synonym", "retinitis pigmentosa type 18", "" ], [ "0011075", "mondo", "synonym", "RP 18", "" ], [ "0011076", "mondo", "recommended_name", "myofibrillar myopathy 1", "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", "DES autosomal recessive limb-girdle muscular dystrophy", "" ], [ "0011076", "mondo", "synonym", "DES myofibrillar myopathy (disease)", "" ], [ "0011076", "mondo", "synonym", "autosomal recessive limb-girdle muscular dystrophy caused by mutation in DES", "" ], [ "0011076", "mondo", "synonym", "autosomal recessive limb-girdle muscular dystrophy type 2R", "" ], [ "0011076", "mondo", "synonym", "desmin-related myofibrillar myopathy", "" ], [ "0011076", "mondo", "synonym", "desminopathy", "" ], [ "0011076", "mondo", "synonym", "myofibrillar myopathy (disease) caused by mutation in DES", "" ], [ "0011076", "mondo", "synonym", "myofibrillar myopathy 1", "" ], [ "0011076", "mondo", "synonym", "myofibrillar myopathy type 1", "" ], [ "0011076", "mondo", "synonym", "myopathy, myofibrillar, type 1", "" ], [ "0011076", "mondo", "synonym", "CMD1F and LGMD1D", "" ], [ "0011076", "mondo", "synonym", "CMD1F and LGMD1D, formerly", "" ], [ "0011076", "mondo", "synonym", "IBM1", "" ], [ "0011076", "mondo", "synonym", "MFM1", "" ], [ "0011076", "mondo", "synonym", "arrhythmogenic right ventricular cardiomyopathy 7", "" ], [ "0011076", "mondo", "synonym", "arrhythmogenic right ventricular cardiomyopathy 7, formerly", "" ], [ "0011076", "mondo", "synonym", "arrhythmogenic right ventricular dysplasia, familial, 7", "" ], [ "0011076", "mondo", "synonym", "arrhythmogenic right ventricular dysplasia, familial, 7, formerly", "" ], [ "0011076", "mondo", "synonym", "cardiomyopathy, dilated, 1F and limb-girdle muscular dystrophy type 1D", "" ], [ "0011076", "mondo", "synonym", "cardiomyopathy, dilated, 1F and limb-girdle muscular dystrophy type 1D, formerly", "" ], [ "0011076", "mondo", "synonym", "cardiomyopathy, dilated, with conduction defect and muscular dystrophy", "" ], [ "0011076", "mondo", "synonym", "desmin-related myopathy", "" ], [ "0011076", "mondo", "synonym", "desmin-related myopathy with arrhythmogenic right ventricular cardiomyopathy", "" ], [ "0011076", "mondo", "synonym", "desminopathy, primary", "" ], [ "0011076", "mondo", "synonym", "inclusion body myopathy 1, autosomal dominant", "" ], [ "0011076", "mondo", "synonym", "inclusion body myopathy 1, autosomal dominant, formerly", "" ], [ "0011076", "mondo", "synonym", "myofibrillar myopathy with arrhythmogenic right ventricular cardiomyopathy", "" ], [ "0011076", "mondo", "synonym", "myopathy, myofibrillar, 1", "" ], [ "0011076", "mondo", "synonym", "myopathy, myofibrillar, desmin-related", "" ], [ "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", "corpus callosum dysgenesis, microcephaly, infantile spasm, cleft lip-palate, exophthalmos and psychomotor retardation", "" ], [ "0011077", "mondo", "synonym", "microcephaly, corpus callosum dysgenesis and cleft lip-palate", "" ], [ "0011077", "mondo", "synonym", "microcephaly, facial clefting, and preaxial polydactyly", "" ], [ "0006337", "mondo", "recommended_name", "ovarian endometriosis", "A non-neoplastic disorder characterized by the growth of endometrial tissue in the ovaries. It results in the development of blood filled ovarian cysts (chocolate cysts), and creation of scars and adhesions." ], [ "0006337", "mondo", "synonym", "endometriosis (disease) of ovary", "" ], [ "0006337", "mondo", "synonym", "endometriosis of ovary", "" ], [ "0006337", "mondo", "synonym", "ovarian endometriosis", "" ], [ "0006337", "mondo", "synonym", "ovary endometriosis (disease)", "" ], [ "0006336", "mondo", "recommended_name", "ovarian endometrioid adenocarcinoma with squamous differentiation", "An endometrioid adenocarcinoma that arises from the ovary and exhibits squamous differentiation. The squamous cell component often has a cytologically benign appearance." ] ] }, "readme": "Name\n - Disease Names\n\nVersion\n - v-2.2.1\n\nCreated on\n - 2020-08-19T14:13:07.626533\n\nModified on\n - 2022-09-26T09:08:12.449304\n\nCreated by\n - Jeet Vora [jeetvora@gwu.edu], Robel Kahsay [rykahsay@gwu.edu], Karina Martinez [karinamartinez@gwu.edu], Jingyue Wu [jingyue.wu@email.gwu.edu]\n\nAuthors\n - \n\nChecksum\n - \n\nUsability Domain\n - \n - \n\nExecution Domain\n Scripts\n\n Software Prerequisites\n Name: Python\n Version: 2.7.5\n URI: https://www.python.org/download/releases/2.7.5/\n\nI/O Domain\n Input Subdomain\n Name: uniprot-proteome-dictyostelium-discoideum.nt\n URI: https:/data.glygen.org/ln2downloads/ebi/2023_10_30/uniprot-proteome-dictyostelium-discoideum.nt\n Name: uniprot-proteome-drosophila-melanogaster.nt\n URI: https:/data.glygen.org/ln2downloads/ebi/2023_10_30/uniprot-proteome-drosophila-melanogaster.nt\n Name: uniprot-proteome-hepatitis-c-virus-1a.nt\n URI: https:/data.glygen.org/ln2downloads/ebi/2023_10_30/uniprot-proteome-hepatitis-c-virus-1a.nt\n Name: uniprot-proteome-hepatitis-c-virus-1b.nt\n URI: https:/data.glygen.org/ln2downloads/ebi/2023_10_30/uniprot-proteome-hepatitis-c-virus-1b.nt\n Name: uniprot-proteome-homo-sapiens.nt\n URI: https:/data.glygen.org/ln2downloads/ebi/2023_10_30/uniprot-proteome-homo-sapiens.nt\n Name: uniprot-proteome-mus-musculus.nt\n URI: https:/data.glygen.org/ln2downloads/ebi/2023_10_30/uniprot-proteome-mus-musculus.nt\n Name: uniprot-proteome-rattus-norvegicus.nt\n URI: https:/data.glygen.org/ln2downloads/ebi/2023_10_30/uniprot-proteome-rattus-norvegicus.nt\n Name: uniprot-proteome-saccharomyces-cerevisiae.nt\n URI: https:/data.glygen.org/ln2downloads/ebi/2023_10_30/uniprot-proteome-saccharomyces-cerevisiae.nt\n Name: uniprot-proteome-sars-coronavirus.nt\n URI: https:/data.glygen.org/ln2downloads/ebi/2023_10_30/uniprot-proteome-sars-coronavirus.nt\n Name: uniprot-proteome-sars-cov-2.nt\n URI: https:/data.glygen.org/ln2downloads/ebi/2023_10_30/uniprot-proteome-sars-cov-2.nt\n Output Subdomain\n Name: protein_disease_names.csv\n URI: https:/data.glygen.org/ln2releases/data/v-2.2.1/reviewed/protein_disease_names.csv\n Name: protein_disease_names.stat.csv\n URI: https:/data.glygen.org/ln2releases/data/v-2.2.1/reviewed/protein_disease_names.stat.csv\n\nFields\n Name: \"xref_id\"\n Description: \"ID of the X-ref\"\n Unique Values: \"55550\"\n Name: \"xref_key\"\n Description: \"Source key associated to the xref_id\"\n Unique Values: \"3\"\n Name: \"name_type\"\n Description: \"\"\n Unique Values: \"2\"\n Name: \"name\"\n Description: \"\"\n Unique Values: \"136604\"\n Name: \"description\"\n Description: \"\"\n Unique Values: \"32019\"", "downloadurl": "/ln2data/releases/data/v-2.2.1/reviewed/protein_disease_names.csv" }