{ "disease_id": "DOID:0060227", "recommended_name": { "id": "DOID:0060227", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0060227", "name": "Adams-Oliver syndrome", "description": "A syndrome characterized by defects of the scalp (aplasia cutis congenita), abnormalities of the fingers, toes, arms and legs." }, "synonyms": [ { "id": "DOID:0060227", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0060227", "name": "Adams Oliver syndrome", "description": "" }, { "id": "MONDO:0013635", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013635", "name": "Adams-Oliver syndrome 2", "description": "Any Adams-Oliver syndrome in which the cause of the disease is a mutation in the DOCK6 gene." }, { "id": "MONDO:0013635", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013635", "name": "Adams-Oliver syndrome 2", "description": "" }, { "id": "MONDO:0013635", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013635", "name": "Adams-Oliver syndrome caused by mutation in DOCK6", "description": "" }, { "id": "MONDO:0013635", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013635", "name": "Adams-Oliver syndrome type 2", "description": "" }, { "id": "MONDO:0013635", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013635", "name": "DOCK6 Adams-Oliver syndrome", "description": "" }, { "id": "MONDO:0013635", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013635", "name": "AOS2", "description": "" }, { "id": "MONDO:0014124", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014124", "name": "Adams-Oliver syndrome 4", "description": "Any Adams-Oliver syndrome in which the cause of the disease is a mutation in the EOGT gene." }, { "id": "MONDO:0014124", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014124", "name": "Adams-Oliver syndrome 4", "description": "" }, { "id": "MONDO:0014124", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014124", "name": "Adams-Oliver syndrome caused by mutation in EOGT", "description": "" }, { "id": "MONDO:0014124", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014124", "name": "Adams-Oliver syndrome type 4", "description": "" }, { "id": "MONDO:0014124", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014124", "name": "EOGT Adams-Oliver syndrome", "description": "" }, { "id": "MONDO:0014124", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014124", "name": "AOS4", "description": "" }, { "id": "MONDO:0014459", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014459", "name": "Adams-Oliver syndrome 5", "description": "Any Adams-Oliver syndrome in which the cause of the disease is a mutation in the NOTCH1 gene." }, { "id": "MONDO:0014459", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014459", "name": "AOS5", "description": "" }, { "id": "MONDO:0014459", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014459", "name": "Adams-Oliver syndrome 5", "description": "" }, { "id": "MONDO:0014459", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014459", "name": "Adams-Oliver syndrome caused by mutation in NOTCH1", "description": "" }, { "id": "MONDO:0014459", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014459", "name": "Adams-Oliver syndrome caused by mutation in Notch1", "description": "" }, { "id": "MONDO:0014459", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014459", "name": "Adams-Oliver syndrome type 5", "description": "" }, { "id": "MONDO:0024506", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0024506", "name": "Adams-Oliver syndrome 1", "description": "Any Adams-Oliver syndrome in which the cause of the disease is a mutation in the ARHGAP31 gene." }, { "id": "MONDO:0024506", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0024506", "name": "AOS1", "description": "" }, { "id": "MONDO:0024506", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0024506", "name": "ARHGAP31 Adams-Oliver syndrome", "description": "" }, { "id": "MONDO:0024506", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0024506", "name": "Adams-Oliver syndrome 1", "description": "" }, { "id": "MONDO:0024506", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0024506", "name": "Adams-Oliver syndrome caused by mutation in ARHGAP31", "description": "" }, { "id": "MONDO:0024506", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0024506", "name": "AOS", "description": "" }, { "id": "MIM:614219", "resource": "MIM", "url": "https://www.omim.org/entry/614219", "name": "Adams-Oliver syndrome 2", "description": "Adams-Oliver syndrome 2" }, { "id": "MIM:615297", "resource": "MIM", "url": "https://www.omim.org/entry/615297", "name": "Adams-Oliver syndrome 4", "description": "Adams-Oliver syndrome 4" }, { "id": "MIM:616028", "resource": "MIM", "url": "https://www.omim.org/entry/616028", "name": "Adams-Oliver syndrome 5", "description": "Adams-Oliver syndrome 5" }, { "id": "MIM:100300", "resource": "MIM", "url": "https://www.omim.org/entry/100300", "name": "Adams-Oliver syndrome 1", "description": "Adams-Oliver syndrome 1" } ], "children": [ { "id": "DOID:0061179", "label": "Adams-Oliver syndrome 3", "link_status": true, "children": [] } ], "id_list": [ "DOID:0060227", "DOID:0061179" ], "unlinked_id_list": [], "crossref": [ { "id": "DOID:0060227", "database": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0060227", "categories": [] }, { "id": "MONDO:0013635", "database": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013635", "categories": [] }, { "id": "MONDO:0014124", "database": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014124", "categories": [] }, { "id": "MONDO:0014459", "database": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014459", "categories": [] }, { "id": "MONDO:0024506", "database": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0024506", "categories": [] }, { "id": "MIM:614219", "database": "MIM", "url": "https://www.omim.org/entry/614219", "categories": [] }, { "id": "MIM:615297", "database": "MIM", "url": "https://www.omim.org/entry/615297", "categories": [] }, { "id": "MIM:616028", "database": "MIM", "url": "https://www.omim.org/entry/616028", "categories": [] }, { "id": "MIM:100300", "database": "MIM", "url": "https://www.omim.org/entry/100300", "categories": [] } ], "proteins": [ { "uniprot_canonical_ac": "E9QGF9-1", "uniprot_ac": "E9QGF9", "uniprot_id": "E9QGF9_DANRE", "refseq_ac": 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isoform X1", "type": "synonym" }, { "name": "dedicator of cytokinesis protein 7 isoform X1", "type": "synonym" } ], "gene_names": [ { "name": "dock6", "type": "recommended" }, { "name": "dock6", "type": "synonym" } ], "record_id": "A0AB32TJM6-1", "evidence": [ { "id": "0060227", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060227" } ] }, { "uniprot_canonical_ac": "A0A8M2B2Q0-1", "uniprot_ac": "A0A8M2B2Q0", "uniprot_id": "A0A8M2B2Q0_DANRE", "refseq_ac": "XP_005155877", "glycoprotein": "no", "species": [ { "name": "Danio rerio", "taxid": 7955, "common_name": "Zebrafish", "glygen_name": "Zebrafish", "reference_species": "Danio rerio [7955]" } ], "protein_names": [ { "name": "EGF domain-specific O-linked N-acetylglucosamine transferase", "type": "recommended" }, { "name": "2.4.1.255", "type": "synonym" }, { "name": "EGF domain-specific O-linked N-acetylglucosamine transferase isoform X1", "type": "synonym" }, { "name": "Extracellular O-linked N-acetylglucosamine transferase", "type": "synonym" } ], "gene_names": [ { "name": "eogt", "type": "recommended" }, { "name": "eogt", "type": "synonym" } ], "record_id": "A0A8M2B2Q0-1", "evidence": [ { "id": "0060227", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060227" } ] }, { "uniprot_canonical_ac": "A0A8M2BFY6-1", "uniprot_ac": "A0A8M2BFY6", "uniprot_id": "A0A8M2BFY6_DANRE", "refseq_ac": "XP_073807185", "glycoprotein": "yes", "species": [ { "name": "Danio rerio", "taxid": 7955, "common_name": "Zebrafish", "glygen_name": "Zebrafish", "reference_species": "Danio rerio [7955]" } ], "protein_names": [ { "name": "Neurogenic locus notch homolog protein 1", "type": "recommended" }, { "name": "neurogenic locus notch homolog protein 1b isoform X1", "type": "synonym" } ], "gene_names": [ { "name": "notch1b", "type": "recommended" }, { "name": "etID309871.5", "type": "synonym" }, { "name": "notch1b", "type": "synonym" }, { "name": "wu:fc55e11", "type": "synonym" } ], "record_id": "A0A8M2BFY6-1", "evidence": [ { "id": "0060227", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060227" } ] }, { "uniprot_canonical_ac": "P46530-1", "uniprot_ac": "P46530", "uniprot_id": "NOTC1_DANRE", "refseq_ac": "NP_571516", "glycoprotein": "yes", "species": [ { "name": "Danio rerio", "taxid": 7955, "common_name": "Zebrafish", "glygen_name": "Zebrafish", "reference_species": "Danio rerio [7955]" } ], "protein_names": [ { "name": "Neurogenic locus notch homolog protein 1", "type": "recommended" }, { "name": "Notch 1", "type": "synonym" }, { "name": "deadly seven", "type": "synonym" }, { "name": "neurogenic locus notch homolog protein 1 precursor", "type": "synonym" }, { "name": "neurogenic locus notch homolog protein 1", "type": "synonym" }, { "name": "notch 1a", "type": "synonym" }, { "name": "notch 1", "type": "synonym" }, { "name": "notch homolog 1a", "type": "synonym" } ], "gene_names": [ { "name": "notch1a", "type": "recommended" }, { "name": "des", "type": "synonym" }, { "name": "n1a", "type": "synonym" }, { "name": "notch1a", "type": "synonym" }, { "name": "notch", "type": "synonym" }, { "name": "wu:fc01e02", "type": "synonym" }, { "name": "wu:fc37a05", "type": "synonym" } ], "record_id": "P46530-1", "evidence": [ { "id": "0060227", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060227" } ] }, { "uniprot_canonical_ac": "Q9JI71-1", "uniprot_ac": "Q9JI71", "uniprot_id": "DLL4_MOUSE", "refseq_ac": "NP_062327", "glycoprotein": "yes", "species": [ { "name": "Mus musculus", "taxid": 10090, "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "protein_names": [ { "name": "Delta-like protein 4", "type": "recommended" }, { "name": "Delta4", "type": "synonym" }, { "name": "Drosophila Delta homolog 4", "type": "synonym" }, { "name": "delta-like 4", "type": "synonym" }, { "name": "delta-like protein 4 precursor", "type": "synonym" }, { "name": "delta-like protein 4", "type": "synonym" }, { "name": "drosophila Delta homolog 4", "type": "synonym" } ], "gene_names": [ { "name": "Dll4", "type": "recommended" }, { "name": "Delta4", "type": "synonym" }, { "name": "Dll4", "type": "synonym" } ], "record_id": "Q9JI71-1", "evidence": [ { "id": "0060227", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060227" } ] }, { "uniprot_canonical_ac": "A6X8Z5-1", "uniprot_ac": "A6X8Z5", "uniprot_id": "RHG31_MOUSE", "refseq_ac": "NP_064656", "glycoprotein": "yes", "species": [ { "name": "Mus musculus", "taxid": 10090, "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "protein_names": [ { "name": "Rho GTPase-activating protein 31", "type": "recommended" }, { "name": "CDC42 GTPase-activating protein", "type": "synonym" }, { "name": "Cdc42 GTPase-activating protein", "type": "synonym" }, { "name": "rho GTPase-activating protein 31", "type": "synonym" } ], "gene_names": [ { "name": "Arhgap31", "type": "recommended" }, { "name": "5830477L08Rik", "type": "synonym" }, { "name": "Arhgap31", "type": "synonym" }, { "name": "Cdgap", "type": "synonym" }, { "name": "D330026I07Rik", "type": "synonym" }, { "name": "Kiaa1204", "type": "synonym" } ], "record_id": "A6X8Z5-1", "evidence": [ { "id": "0060227", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060227" } ] }, { "uniprot_canonical_ac": "Q8VDR9-1", "uniprot_ac": "Q8VDR9", "uniprot_id": "DOCK6_MOUSE", "refseq_ac": "NP_796004", "glycoprotein": "yes", "species": [ { "name": "Mus musculus", "taxid": 10090, "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "protein_names": [ { "name": "Dedicator of cytokinesis protein 6", "type": "recommended" }, { "name": "dedicator of cytokinesis protein 6 isoform 1", "type": "synonym" }, { "name": "dedicator of cytokinesis protein 6", "type": "synonym" } ], "gene_names": [ { "name": "Dock6", "type": "recommended" }, { "name": "2410095B20Rik", "type": "synonym" }, { "name": "4931431C02Rik", "type": "synonym" }, { "name": "C330023D02Rik", "type": "synonym" }, { "name": "Dock6", "type": "synonym" }, { "name": "Kiaa1395", "type": "synonym" }, { "name": "mKIAA1395", "type": "synonym" } ], "record_id": "Q8VDR9-1", "evidence": [ { "id": "0060227", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060227" } ] }, { "uniprot_canonical_ac": "Q8BYW9-1", "uniprot_ac": "Q8BYW9", "uniprot_id": "EOGT_MOUSE", "refseq_ac": "NP_780522", "glycoprotein": "yes", "species": [ { "name": "Mus musculus", "taxid": 10090, "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "protein_names": [ { "name": "EGF domain-specific O-linked N-acetylglucosamine transferase", "type": "recommended" }, { "name": "2.4.1.255", "type": "synonym" }, { "name": "EGF domain-specific O-linked N-acetylglucosamine (GlcNAc) transferase", "type": "synonym" }, { "name": "EGF domain-specific O-linked N-acetylglucosamine transferase precursor", "type": "synonym" }, { "name": "Extracellular O-linked N-acetylglucosamine transferase", "type": "synonym" }, { "name": "extracellular O-linked N-acetylglucosamine transferase", "type": "synonym" } ], "gene_names": [ { "name": "Eogt", "type": "recommended" }, { "name": "A130022J15Rik", "type": "synonym" }, { "name": "Aer61", "type": "synonym" }, { "name": "Eogt1", "type": "synonym" }, { "name": "Eogt", "type": "synonym" } ], "record_id": "Q8BYW9-1", "evidence": [ { "id": "0060227", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060227" } ] }, { "uniprot_canonical_ac": "Q01705-1", "uniprot_ac": "Q01705", "uniprot_id": "NOTC1_MOUSE", "refseq_ac": "NP_032740", "glycoprotein": "yes", "species": [ { "name": "Mus musculus", "taxid": 10090, "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "protein_names": [ { "name": "Neurogenic locus notch homolog protein 1", "type": 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"name": "Igkrsbp", "type": "synonym" }, { "name": "RBP-J kappa", "type": "synonym" }, { "name": "RBP-Jkappa", "type": "synonym" }, { "name": "RBP-J", "type": "synonym" }, { "name": "RBPjk", "type": "synonym" }, { "name": "Rbpj", "type": "synonym" }, { "name": "Rbpsuh", "type": "synonym" } ], "record_id": "P31266-1", "evidence": [ { "id": "0060227", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060227" } ] }, { "uniprot_canonical_ac": "Q96HP0-1", "uniprot_ac": "Q96HP0", "uniprot_id": "DOCK6_HUMAN", "refseq_ac": "NP_065863", "glycoprotein": "yes", "species": [ { "name": "Homo sapiens", "taxid": 9606, "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "protein_names": [ { "name": "Dedicator of cytokinesis protein 6", "type": "recommended" }, { "name": "dedicator of cytokinesis protein 6 isoform 1", "type": "synonym" }, { "name": "dedicator of cytokinesis protein 6", "type": "synonym" } ], "gene_names": [ { "name": 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kappa", "type": "synonym" }, { "name": "Su(H)-PC", "type": "synonym" }, { "name": "lethal 7 in the black-reduced region", "type": "synonym" }, { "name": "lethal group D", "type": "synonym" }, { "name": "suppressor of hairless, isoform C", "type": "synonym" }, { "name": "suppressor of hairless", "type": "synonym" }, { "name": "suppressor-of-hairless", "type": "synonym" }, { "name": "supressor of hairless", "type": "synonym" }, { "name": "transcription unit C", "type": "synonym" } ], "gene_names": [ { "name": "Su(H)", "type": "recommended" }, { "name": "BG:DS00929.10", "type": "synonym" }, { "name": "CBF1", "type": "synonym" }, { "name": "CG3497", "type": "synonym" }, { "name": "CSL", "type": "synonym" }, { "name": "C", "type": "synonym" }, { "name": "Dmel\\CG3497", "type": "synonym" }, { "name": "Dmel_CG3497", "type": "synonym" }, { "name": "D", "type": "synonym" }, { "name": "E(H)", "type": "synonym" }, { "name": "FTZ-F2", "type": "synonym" }, { "name": "RBJK_DROME", "type": "synonym" }, { "name": "RBP-J kappa", "type": "synonym" }, { "name": "RBP-J[[Kappa]]", "type": "synonym" }, { "name": "RBP-Jkappa", "type": "synonym" }, { "name": "SU(H)", "type": "synonym" }, { "name": "SUH", "type": "synonym" }, { "name": "Su(H)", "type": "synonym" }, { "name": "Su(h)", "type": "synonym" }, { "name": "SuH", "type": "synonym" }, { "name": "Su_H", "type": "synonym" }, { "name": "anon-WO0257455.3", "type": "synonym" }, { "name": "br7", "type": "synonym" }, { "name": "dCSL", "type": "synonym" }, { "name": "dRBP-JK", "type": "synonym" }, { "name": "dRBP-J[[Kappa]]", "type": "synonym" }, { "name": "dRBP-Jk", "type": "synonym" }, { "name": "l(1)br7", "type": "synonym" }, { "name": "l(2)35Bh", "type": "synonym" }, { "name": "l(2)br7", "type": "synonym" }, { "name": "l(2)k07904", "type": "synonym" }, { "name": "oss", "type": "synonym" }, { "name": "su(H)", "type": "synonym" } ], "record_id": "P28159-1", "evidence": [ { "id": "0060227", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060227" } ] }, { "uniprot_canonical_ac": "Q06330-1", "uniprot_ac": "Q06330", "uniprot_id": "SUH_HUMAN", "refseq_ac": "NP_005340", "glycoprotein": "yes", "species": [ { "name": "Homo sapiens", "taxid": 9606, "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "protein_names": [ { "name": "Recombining binding protein suppressor of hairless", "type": "recommended" }, { "name": "CBF-1", "type": "synonym" }, { "name": "CSL family DNA binding factor 1", "type": "synonym" }, { "name": "H-2K binding factor-2", "type": "synonym" }, { "name": "J kappa-recombination signal-binding protein", "type": "synonym" }, { "name": "RBP-J kappa", "type": "synonym" }, { "name": "RBP-JK", "type": "synonym" }, { "name": "RBP-J", "type": "synonym" }, { "name": "Renal carcinoma antigen NY-REN-30", "type": "synonym" }, { "name": "immunoglobulin kappa J region recombination signal binding protein 1", "type": "synonym" }, { "name": "recombining binding protein suppressor of hairless isoform 1", "type": "synonym" }, { "name": "recombining binding protein suppressor of hairless", "type": "synonym" }, { "name": "renal carcinoma antigen NY-REN-30", "type": "synonym" }, { "name": "suppressor of hairless homolog", "type": "synonym" } ], "gene_names": [ { "name": "RBPJ", "type": "recommended" }, { "name": "AOS3", "type": "synonym" }, { "name": "CBF-1", "type": "synonym" }, { "name": "CBF1", "type": "synonym" }, { "name": "IGKJRB1", "type": "synonym" }, { "name": "IGKJRB", "type": "synonym" }, { "name": "KBF2", "type": "synonym" }, { "name": "RBP-J kappa", "type": "synonym" }, { "name": "RBP-JK", "type": "synonym" }, { "name": "RBP-J", "type": "synonym" }, { "name": "RBPJK", "type": "synonym" }, { "name": "RBPJ", "type": "synonym" }, { "name": "RBPSUH", "type": "synonym" }, { "name": "SUH", "type": "synonym" }, { "name": "csl", "type": "synonym" } ], "record_id": "Q06330-1", "evidence": [ { "id": "0060227", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060227" } ] }, { "uniprot_canonical_ac": "Q9NR61-1", "uniprot_ac": "Q9NR61", "uniprot_id": "DLL4_HUMAN", "refseq_ac": "NP_061947", "glycoprotein": "yes", "species": [ { "name": "Homo sapiens", "taxid": 9606, "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "protein_names": [ { "name": "Delta-like protein 4", "type": "recommended" }, { "name": "Delta4", "type": "synonym" }, { "name": "Drosophila Delta homolog 4", "type": "synonym" }, { "name": "delta 4", "type": "synonym" }, { "name": "delta ligand 4", "type": "synonym" }, { "name": "delta-like 4 homolog", "type": "synonym" }, { "name": "delta-like 4 protein", "type": "synonym" }, { "name": "delta-like ligand 4", "type": "synonym" }, { "name": "delta-like protein 4 precursor", "type": "synonym" }, { "name": "delta-like protein 4", "type": "synonym" }, { "name": "drosophila Delta homolog 4", "type": "synonym" }, { "name": "notch ligand DLL4", "type": "synonym" }, { "name": "notch ligand delta-2", "type": "synonym" } ], "gene_names": [ { "name": "DLL4", "type": "recommended" }, { "name": "AOS6", "type": "synonym" }, { "name": "DLL4", "type": "synonym" }, { "name": "PRO4341", "type": "synonym" }, { "name": "delta4", "type": "synonym" }, { "name": "hdelta2", "type": "synonym" } ], "record_id": "Q9NR61-1", "evidence": [ { "id": "0060227", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060227" } ] } ], "glycans": [], "biomarkers": [], "association_flag": "1000", "record_id": "doid.0060227" }