{ "disease_id": "DOID:0111596", "recommended_name": { "id": "DOID:0111596", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111596", "name": "distal arthrogryposis type 1", "description": "A distal arthrogryposis characterized by autosomal domiant inheritance of contractures of the distal regions of the hands and feet with no facial involvement or other anomalies." }, "synonyms": [ { "id": "DOID:0111596", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111596", "name": "DA1", "description": "" }, { "id": "DOID:0111596", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111596", "name": "digitotalar dysmorphism", "description": "" }, { "id": "MONDO:0007458", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007458", "name": "digitotalar dysmorphism; ulnar drift, hereditary", "description": "" }, { "id": "MONDO:0007458", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007458", "name": "digitotalar dysmorphism", "description": "" }, { "id": "MONDO:0007458", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007458", "name": "ulnar drift, hereditary", "description": "" } ], "children": [ { "id": "DOID:0111597", "label": "distal arthrogryposis type 1A", "link_status": true, "children": [] }, { "id": "DOID:0112190", "label": "distal arthrogryposis type 1C", "link_status": true, "children": [] }, { "id": "DOID:0111598", "label": "distal arthrogryposis type 1B", "link_status": true, "children": [] } ], "id_list": [ "DOID:0111596", "DOID:0111598", "DOID:0112190", "DOID:0111597" ], "unlinked_id_list": [], "crossref": [ { "id": "DOID:0111596", "database": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111596", "categories": [] }, { "id": "MONDO:0007458", "database": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007458", "categories": [] } ], "proteins": [ { "uniprot_canonical_ac": "P05661-1", "uniprot_ac": "P05661", "uniprot_id": "MYSA_DROME", "refseq_ac": "NP_001162991", "glycoprotein": "no", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "protein_names": [ { "name": "Myosin heavy chain, muscle", "resource": "UniProtKB", "type": "recommended" }, { "name": "CG17927-PO; 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skeletal muscle myosin heavy chain II-a; myosin heavy chain IIa; myosin heavy chain, skeletal muscle, adult 2", "resource": "RefSeq", "type": "synonym" }, { "name": "myosin-2", "resource": "RefSeq", "type": "synonym" } ], "gene_names": [ { "name": "Myh2", "resource": "UniProtKB", "type": "recommended" }, { "name": "MHC2A; Myh2a; MyHC-2a; MyHC-IIa; Myhs-f; Myhs-f1; Myhsf1", "resource": "RefSeq", "type": "synonym" }, { "name": "Myh2", "resource": "RefSeq", "type": "synonym" } ], "evidence": [ { "id": "0111596", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:0111596" } ] }, { "uniprot_canonical_ac": "Q5SX39-1", "uniprot_ac": "Q5SX39", "uniprot_id": "MYH4_MOUSE", "refseq_ac": "NP_034985", "glycoprotein": "yes", "species": [ { "name": "Mus musculus", "taxid": 10090, "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "protein_names": [ { "name": "Myosin-4", "resource": "UniProtKB", "type": "recommended" }, { "name": "MyHC-2b", "resource": "UniProtKB", "type": "synonym" }, { "name": "Myosin heavy chain 2b", "resource": "UniProtKB", "type": "synonym" }, { "name": "Myosin heavy chain 4", "resource": "UniProtKB", "type": "synonym" }, { "name": "myHC-2b; myosin heavy chain 4; myosin heavy chain 2b", "resource": "RefSeq", "type": "synonym" }, { "name": "myosin-4", "resource": "RefSeq", "type": "synonym" } ], "gene_names": [ { "name": "Myh4", "resource": "UniProtKB", "type": "recommended" }, { "name": "MHC2B; Minimsc; Minmus; MM; MYH-2B; MyHC-IIb; Myhsf", "resource": "RefSeq", "type": "synonym" }, { "name": "Myh4", "resource": "RefSeq", "type": "synonym" } ], "evidence": [ { "id": "0111596", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:0111596" } ] }, { "uniprot_canonical_ac": "P13542-1", "uniprot_ac": "P13542", "uniprot_id": "MYH8_MOUSE", "refseq_ac": "NP_796343", "glycoprotein": "yes", "species": [ { "name": "Mus musculus", "taxid": 10090, "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "protein_names": [ { "name": "Myosin-8", "resource": "UniProtKB", "type": "recommended" }, { "name": "MyHC-perinatal", "resource": "UniProtKB", "type": "synonym" }, { "name": "Myosin heavy chain 8", "resource": "UniProtKB", "type": "synonym" }, { "name": "Myosin heavy chain, skeletal muscle, perinatal", "resource": "UniProtKB", "type": "synonym" }, { "name": "myHC-perinatal; myosin heavy chain 8; myosin heavy chain, skeletal muscle, perinatal; Beta-MHC antisense", "resource": "RefSeq", "type": "synonym" }, { "name": "myosin-8", "resource": "RefSeq", "type": "synonym" } ], "gene_names": [ { "name": "Myh8", "resource": "UniProtKB", "type": "recommended" }, { "name": "4832426G23Rik; MHCp; MyHC-pn; Myhs-p; Myhsp", "resource": "RefSeq", "type": "synonym" }, { "name": "Myh8", "resource": "RefSeq", "type": "synonym" }, { "name": "Myhsp", "resource": "UniProtKB", "type": "synonym" } ], "evidence": [ { "id": "0111596", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:0111596" } ] }, { "uniprot_canonical_ac": "Q02566-1", "uniprot_ac": "Q02566", "uniprot_id": "MYH6_MOUSE", "refseq_ac": "NP_001157643", "glycoprotein": "yes", "species": [ { "name": "Mus musculus", "taxid": 10090, "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "protein_names": [ { "name": "Myosin-6", "resource": "UniProtKB", "type": "recommended" }, { "name": "MyHC-alpha", "resource": "UniProtKB", "type": "synonym" }, { "name": "Myosin heavy chain 6", "resource": "UniProtKB", "type": "synonym" }, { "name": "Myosin heavy chain, cardiac muscle alpha isoform", "resource": "UniProtKB", "type": "synonym" }, { "name": "myosin heavy chain 6; myHC-alpha; myosin heavy chain, cardiac muscle, adult; alpha myosin; cardiomyopathy, hypertrophic 1; alpha cardiac MHC", "resource": "RefSeq", "type": "synonym" }, { "name": "myosin-6", "resource": "RefSeq", "type": "synonym" } ], "gene_names": [ { "name": "Myh6", "resource": "UniProtKB", "type": "recommended" }, { "name": "A830009F23Rik; alpha-MHC; alphaMHC; Myhc-a; Myhca", "resource": "RefSeq", "type": "synonym" }, { "name": "Myh6", "resource": "RefSeq", "type": "synonym" }, { "name": "Myhca", "resource": "UniProtKB", "type": "synonym" } ], "evidence": [ { "id": "0111596", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:0111596" } ] }, { "uniprot_canonical_ac": "A2AQP0-1", "uniprot_ac": "A2AQP0", "uniprot_id": "MYH7B_MOUSE", "refseq_ac": "NP_001078847", "glycoprotein": "yes", "species": [ { "name": "Mus musculus", "taxid": 10090, "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "protein_names": [ { "name": "Myosin-7B", "resource": "UniProtKB", "type": "recommended" }, { "name": "Myosin cardiac muscle beta chain", "resource": "UniProtKB", "type": "synonym" }, { "name": "Myosin heavy chain 7B, cardiac muscle beta isoform", "resource": "UniProtKB", "type": "synonym" }, { "name": "myosin-7B", "resource": "RefSeq", "type": "synonym" } ], "gene_names": [ { "name": "Myh7b", "resource": "UniProtKB", "type": "recommended" }, { "name": "Myh14", "resource": "RefSeq", "type": "synonym" }, { "name": "Myh7b", "resource": "RefSeq", "type": "synonym" } ], "evidence": [ { "id": "0111596", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:0111596" } ] }, { "uniprot_canonical_ac": "Q91Z83-1", "uniprot_ac": "Q91Z83", "uniprot_id": "MYH7_MOUSE", "refseq_ac": "NP_542766", "glycoprotein": "yes", "species": [ { "name": "Mus musculus", "taxid": 10090, "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "protein_names": [ { "name": "Myosin-7", "resource": "UniProtKB", "type": "recommended" }, { "name": "MyHC-beta", "resource": "UniProtKB", "type": "synonym" }, { "name": "MyHC-slow", "resource": "UniProtKB", "type": "synonym" }, { "name": "Myosin heavy chain 7", "resource": "UniProtKB", "type": "synonym" }, { "name": "Myosin heavy chain slow isoform", "resource": "UniProtKB", "type": "synonym" }, { "name": "Myosin heavy chain, cardiac muscle beta isoform", "resource": "UniProtKB", "type": "synonym" }, { "name": "myosin heavy chain 7; myosin heavy chain, cardiac muscle, fetal", "resource": "RefSeq", "type": "synonym" }, { "name": "myosin-7", "resource": "RefSeq", "type": "synonym" } ], "gene_names": [ { "name": "Myh7", "resource": "UniProtKB", "type": "recommended" }, { "name": "B-MHC; beta-MHC; betaMHC; MYH-beta/slow; Myhc-b; myHC-beta; MyHC-I; myHC-slow; Myhcb", "resource": "RefSeq", "type": "synonym" }, { "name": "Myh7", "resource": "RefSeq", "type": "synonym" } ], "evidence": [ { "id": "0111596", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:0111596" } ] }, { "uniprot_canonical_ac": "P13541-1", "uniprot_ac": "P13541", "uniprot_id": "MYH3_MOUSE", "refseq_ac": "NP_001093105", "glycoprotein": "yes", "species": [ { "name": "Mus musculus", "taxid": 10090, "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "protein_names": [ { "name": "Myosin-3", "resource": "UniProtKB", "type": "recommended" }, { "name": "Myosin heavy chain 3", "resource": "UniProtKB", "type": "synonym" }, { "name": "myosin heavy chain 3", "resource": "RefSeq", "type": "synonym" }, { "name": "myosin-3", "resource": "RefSeq", "type": "synonym" } ], "gene_names": [ { "name": "Myh3", "resource": "UniProtKB", "type": "recommended" }, { "name": "MyHC-emb; Myhs-e; Myhse", "resource": "RefSeq", "type": "synonym" }, { "name": "Myh3", "resource": "RefSeq", "type": "synonym" }, { "name": "Myhse", "resource": "UniProtKB", "type": "synonym" } ], "evidence": [ { "id": "0111596", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:0111596" } ] }, { "uniprot_canonical_ac": "Q5SX40-1", "uniprot_ac": "Q5SX40", "uniprot_id": "MYH1_MOUSE", "refseq_ac": "NP_109604", "glycoprotein": "yes", "species": [ { "name": "Mus musculus", "taxid": 10090, "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "protein_names": [ { "name": "Myosin-1", "resource": "UniProtKB", "type": "recommended" }, { "name": "MyHC-2x", "resource": "UniProtKB", "type": "synonym" }, { "name": "Myosin heavy chain 1", "resource": "UniProtKB", "type": "synonym" }, { "name": "Myosin heavy chain 2x", "resource": "UniProtKB", "type": "synonym" }, { "name": "Myosin heavy chain, skeletal muscle, adult 1", "resource": "UniProtKB", "type": "synonym" }, { "name": "myHC-2x; 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