{
    "disease_id": "DOID:11044",
    "recommended_name": {
        "id": "DOID:11044",
        "resource": "Disease Ontology",
        "url": "http://disease-ontology.org/term/DOID:11044",
        "name": "gastroschisis",
        "description": ""
    },
    "synonyms": [
        {
            "id": "MONDO:0009264",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009264",
            "name": "gastroschisis",
            "description": "Gastroschisis is marked by viscera protruding, without a covering sac, from the fetal abdomen on the right lateral base of the umbilicus. It is due to defective embryo growth and other malformations are only exceptionally associated."
        },
        {
            "id": "MONDO:0009264",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009264",
            "name": "eventration",
            "description": ""
        },
        {
            "id": "MONDO:0009264",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009264",
            "name": "gastroschisis",
            "description": ""
        },
        {
            "id": "MONDO:0009264",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009264",
            "name": "laparoschisis",
            "description": ""
        },
        {
            "id": "MONDO:0009264",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009264",
            "name": "abdominal wall defects",
            "description": ""
        },
        {
            "id": "MONDO:0009264",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009264",
            "name": "congenital fissure of the abdominal cavity",
            "description": ""
        }
    ],
    "children": [],
    "id_list": [
        "DOID:11044"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:11044",
            "database": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:11044",
            "categories": []
        },
        {
            "id": "MONDO:0009264",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009264",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q02645-1",
            "uniprot_ac": "Q02645",
            "uniprot_id": "HTS_DROME",
            "refseq_ac": "NP_001163203",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Protein hu-li tai shao",
                    "resource": "UniProtKB",
                    "type": "recommended"
                },
                {
                    "name": "Adducin-like protein",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "CG43443-PH; hts-PH; Hu Li Tai shao; adducin-like; Hu-li tai shao; hu-li tai shao protein; Hu li-tai shao; Hu-li tai-shao; hu-li-tai-shao; ovarian hu-li tai shao-ring canal protein; Adducin-like 56D; Adducin-like-56D",
                    "resource": "RefSeq",
                    "type": "synonym"
                },
                {
                    "name": "hu li tai shao, isoform H",
                    "resource": "RefSeq",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "hts",
                    "resource": "UniProtKB",
                    "type": "recommended"
                },
                {
                    "name": "1B1; add; Add; ADD-87; Add-hts; add-like; Add1; Add2; adducin; Adducin; anon-EST:Posey9; CG34197; CG43443; CG9325; Dmel\\CG43443; EST D; Hts; HTS; HTS-R1; Hts-RC; HTS-RC; HtsF; htsRC; HtsRC; HTS_DROME; l(2)00634; l(2)01103; l(2)k06121; l(2)k14523; Ovhts; Ovhts-RC; sxp",
                    "resource": "RefSeq",
                    "type": "synonym"
                },
                {
                    "name": "1B1",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "ADD-87",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "Add-hts",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "Add1",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "Add2",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "Adducin",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "Add",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "CG34197",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "CG43443",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "CG9325",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG43443",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG43443",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "EST D",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "HTS-R1",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "HTS-RC",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "HTS_DROME",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "HTS",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "Hts-RC",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "HtsF",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "HtsRC",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "Hts",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "Ovhts-RC",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "Ovhts",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "add-like",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "adducin",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "add",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "anon-EST:Posey9",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "htsRC",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "hts",
                    "resource": "RefSeq",
                    "type": "synonym"
                },
                {
                    "name": "l(2)00634",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "l(2)01103",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "l(2)k06121",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "l(2)k14523",
                    "resource": "UniProtKB",
                    "type": "synonym"
                }
            ],
            "evidence": [
                {
                    "id": "11044",
                    "database": "Alliance of Genome Resources",
                    "url": "https://www.alliancegenome.org/disease/DOID:11044"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q27571-1",
            "uniprot_ac": "Q27571",
            "uniprot_id": "NOS_DROME",
            "refseq_ac": "NP_001027240",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Nitric oxide synthase",
                    "resource": "UniProtKB",
                    "type": "recommended"
                },
                {
                    "name": "1.14.13.39",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "CG6713-PF; Nos-PF; NO synthase; nitric oixide synthase; nitric oxidesynthase; nitric oxide synthase",
                    "resource": "RefSeq",
                    "type": "synonym"
                },
                {
                    "name": "dNOS",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "nitric oxide synthase, isoform F",
                    "resource": "RefSeq",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Nos",
                    "resource": "UniProtKB",
                    "type": "recommended"
                },
                {
                    "name": "CG6713; Dmel\\CG6713; dNos; dNOS; DNOS; DNOS1; dNOS4; drNOSoxy; dsNOS; iNos; iNOS; nNOS; nos; NOS; NOS1; NOS2",
                    "resource": "RefSeq",
                    "type": "synonym"
                },
                {
                    "name": "CG6713",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "Nos",
                    "resource": "RefSeq",
                    "type": "synonym"
                }
            ],
            "evidence": [
                {
                    "id": "11044",
                    "database": "Alliance of Genome Resources",
                    "url": "https://www.alliancegenome.org/disease/DOID:11044"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P09208-1",
            "uniprot_ac": "P09208",
            "uniprot_id": "INSR_DROME",
            "refseq_ac": "NP_001138093",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Insulin-like receptor",
                    "resource": "UniProtKB",
                    "type": "recommended"
                },
                {
                    "name": "2.7.10.1",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "CG18402-PB; InR-PB; insulin receptor homolog; Igf-1 receptor; Insulin-receptor; sprout; insulin-like receptor; drosophila insulin receptor; insulin/IGF receptor; insulin-like receptor tyrosine kinase; lethal(3)93Dj; insulin receptor homologue",
                    "resource": "RefSeq",
                    "type": "synonym"
                },
                {
                    "name": "Insulin receptor homolog",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "Insulin-like receptor free C-terminus",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "Insulin-like receptor subunit beta 170 kDa form",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "Insulin-like receptor subunit beta 90 kDa form",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "Insulin-like receptor, isoform B",
                    "resource": "RefSeq",
                    "type": "synonym"
                },
                {
                    "name": "Receptor protein-tyrosine kinase InR",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "beta170",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "beta90",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "dIRH",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "dIR",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "dInr",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "dmIR",
                    "resource": "UniProtKB",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "InR",
                    "resource": "UniProtKB",
                    "type": "recommended"
                },
                {
                    "name": "18402; CG18402; DIHR; DILR; dinr; dinR; dInr; dInR; dINR; DInr; DInR; dInsR; dINSR; dir; dIR; DIR; Dir-a; Dir-b; DIRbeta; dIRH; DIRH; Dmel\\CG18402; er10; Igfr1; inr; inR; Inr; INR; Inr-alpha; Inr-beta; INS; InsR; insulin/insulin-like growth factor receptor; IR; l(3)05545; l(3)93Dj; l(3)er10; lnR; RTK; sprout",
                    "resource": "RefSeq",
                    "type": "synonym"
                },
                {
                    "name": "CG18402",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "Dir-a",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "IR",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "InR",
                    "resource": "RefSeq",
                    "type": "synonym"
                },
                {
                    "name": "Inr-a",
                    "resource": "UniProtKB",
                    "type": "synonym"
                }
            ],
            "evidence": [
                {
                    "id": "11044",
                    "database": "Alliance of Genome Resources",
                    "url": "https://www.alliancegenome.org/disease/DOID:11044"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0A0B4KFD1-1",
            "uniprot_ac": "A0A0B4KFD1",
            "uniprot_id": "A0A0B4KFD1_DROME",
            "refseq_ac": "NP_001260800",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "CG33087-PF; LRP1-PF; LDL-receptor-related protein 1; LDL receptor-related protein 1; LDL receptor protein",
                    "resource": "RefSeq",
                    "type": "synonym"
                },
                {
                    "name": "LDL receptor protein 1, isoform F",
                    "resource": "RefSeq",
                    "type": "synonym"
                },
                {
                    "name": "LDL receptor protein 1, isoform F",
                    "resource": "UniProtKB",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "LRP1",
                    "resource": "UniProtKB",
                    "type": "recommended"
                },
                {
                    "name": "CG30368; CG33087; CG8706; CT9297; Dm CG33087; Dmel\\CG33087; dmLRP1; LRP-1; lrp1; Lrp1",
                    "resource": "RefSeq",
                    "type": "synonym"
                },
                {
                    "name": "CG30368",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "CG33087",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "CG8706",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "CT9297",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "Dm CG33087",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG33087",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG33087",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "LDLR",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "LRP1",
                    "resource": "RefSeq",
                    "type": "synonym"
                },
                {
                    "name": "Lrp1",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "lrp1",
                    "resource": "UniProtKB",
                    "type": "synonym"
                }
            ],
            "evidence": [
                {
                    "id": "11044",
                    "database": "Alliance of Genome Resources",
                    "url": "https://www.alliancegenome.org/disease/DOID:11044"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q91ZX7-1",
            "uniprot_ac": "Q91ZX7",
            "uniprot_id": "LRP1_MOUSE",
            "refseq_ac": "NP_032538",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Prolow-density lipoprotein receptor-related protein 1",
                    "resource": "UniProtKB",
                    "type": "recommended"
                },
                {
                    "name": "A2MR",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "Alpha-2-macroglobulin receptor",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "LRP-1",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "prolow-density lipoprotein receptor-related protein 1 precursor",
                    "resource": "RefSeq",
                    "type": "synonym"
                },
                {
                    "name": "prolow-density lipoprotein receptor-related protein 1; alpha 2-macroglobulin receptor; LRP-1",
                    "resource": "RefSeq",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Lrp1",
                    "resource": "UniProtKB",
                    "type": "recommended"
                },
                {
                    "name": "A2mr; b2b1554Clo; CD91; Lrp",
                    "resource": "RefSeq",
                    "type": "synonym"
                },
                {
                    "name": "A2mr",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "Lrp1",
                    "resource": "RefSeq",
                    "type": "synonym"
                }
            ],
            "evidence": [
                {
                    "id": "11044",
                    "database": "Alliance of Genome Resources",
                    "url": "https://www.alliancegenome.org/disease/DOID:11044"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9QYC0-1",
            "uniprot_ac": "Q9QYC0",
            "uniprot_id": "ADDA_MOUSE",
            "refseq_ac": "NP_001019629",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Alpha-adducin",
                    "resource": "UniProtKB",
                    "type": "recommended"
                },
                {
                    "name": "Erythrocyte adducin subunit alpha",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "alpha-adducin isoform 1",
                    "resource": "RefSeq",
                    "type": "synonym"
                },
                {
                    "name": "alpha-adducin; erythrocyte adducin subunit alpha; adducin 1 (alpha)",
                    "resource": "RefSeq",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Add1",
                    "resource": "UniProtKB",
                    "type": "recommended"
                },
                {
                    "name": "Add1",
                    "resource": "RefSeq",
                    "type": "synonym"
                }
            ],
            "evidence": [
                {
                    "id": "11044",
                    "database": "Alliance of Genome Resources",
                    "url": "https://www.alliancegenome.org/disease/DOID:11044"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P29477-1",
            "uniprot_ac": "P29477",
            "uniprot_id": "NOS2_MOUSE",
            "refseq_ac": "NP_001300850",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Nitric oxide synthase, inducible",
                    "resource": "UniProtKB",
                    "type": "recommended"
                },
                {
                    "name": "1.14.13.39",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "Inducible NO synthase",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "Inducible NOS",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "MAC-NOS",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "Macrophage NOS",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "NOS type II",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "Peptidyl-cysteine S-nitrosylase NOS2",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "iNOS",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "nitric oxide synthase, inducible isoform b",
                    "resource": "RefSeq",
                    "type": "synonym"
                },
                {
                    "name": "nitric oxide synthase, inducible; inducible nitric oxide synthase; NOS type II; inducible NOS; macrophage NOS; inducible NO synthase; peptidyl-cysteine S-nitrosylase NOS2; nitric oxide synthase 2, inducible, macrophage",
                    "resource": "RefSeq",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Nos2",
                    "resource": "UniProtKB",
                    "type": "recommended"
                },
                {
                    "name": "Inosl",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "Nos2",
                    "resource": "RefSeq",
                    "type": "synonym"
                },
                {
                    "name": "i-NOS; iNOS; MAC-NOS; Nos-2; NOS-II; Nos2a",
                    "resource": "RefSeq",
                    "type": "synonym"
                }
            ],
            "evidence": [
                {
                    "id": "11044",
                    "database": "Alliance of Genome Resources",
                    "url": "https://www.alliancegenome.org/disease/DOID:11044"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q60751-1",
            "uniprot_ac": "Q60751",
            "uniprot_id": "IGF1R_MOUSE",
            "refseq_ac": "NP_034643",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Insulin-like growth factor 1 receptor",
                    "resource": "UniProtKB",
                    "type": "recommended"
                },
                {
                    "name": "2.7.10.1",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "IGF-I receptor",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "Insulin-like growth factor I receptor",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "insulin-like growth factor 1 receptor precursor",
                    "resource": "RefSeq",
                    "type": "synonym"
                },
                {
                    "name": "insulin-like growth factor 1 receptor; IGF-I receptor; line 186",
                    "resource": "RefSeq",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Igf1r",
                    "resource": "UniProtKB",
                    "type": "recommended"
                },
                {
                    "name": "A330103N21Rik; CD221; D930020L01; hyft; IGF-1R",
                    "resource": "RefSeq",
                    "type": "synonym"
                },
                {
                    "name": "Igf1r",
                    "resource": "RefSeq",
                    "type": "synonym"
                }
            ],
            "evidence": [
                {
                    "id": "11044",
                    "database": "Alliance of Genome Resources",
                    "url": "https://www.alliancegenome.org/disease/DOID:11044"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P05532-1",
            "uniprot_ac": "P05532",
            "uniprot_id": "KIT_MOUSE",
            "refseq_ac": "NP_001116205",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Mast/stem cell growth factor receptor Kit",
                    "resource": "UniProtKB",
                    "type": "recommended"
                },
                {
                    "name": "2.7.10.1",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "Proto-oncogene c-Kit",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "SCFR",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "Tyrosine-protein kinase Kit",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "c-kit proto-oncogene protein; belly-spot; SCFR; proto-oncogene tyrosine-protein kinase Kit; proto-oncogene c-Kit; dominant spotting; spotted sterile male; Steel Factor Receptor; Dominant white spotting; mast/stem cell growth factor receptor Kit; kit oncogene",
                    "resource": "RefSeq",
                    "type": "synonym"
                },
                {
                    "name": "mast/stem cell growth factor receptor Kit isoform 1 precursor",
                    "resource": "RefSeq",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Kit",
                    "resource": "UniProtKB",
                    "type": "recommended"
                },
                {
                    "name": "Bs; c-KIT; CD117; Fdc; Gsfsco1; Gsfsco5; Gsfsow3; SCO1; SCO5; SOW3; Ssm; Tr-kit; W",
                    "resource": "RefSeq",
                    "type": "synonym"
                },
                {
                    "name": "Kit",
                    "resource": "RefSeq",
                    "type": "synonym"
                },
                {
                    "name": "Sl",
                    "resource": "UniProtKB",
                    "type": "synonym"
                }
            ],
            "evidence": [
                {
                    "id": "11044",
                    "database": "Alliance of Genome Resources",
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                }
            ]
        },
        {
            "uniprot_canonical_ac": "P49366-1",
            "uniprot_ac": "P49366",
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            "glycoprotein": "no",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Deoxyhypusine synthase",
                    "resource": "UniProtKB",
                    "type": "recommended"
                },
                {
                    "name": "2.5.1.46",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "DHS",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "deoxyhypusine synthase isoform d",
                    "resource": "RefSeq",
                    "type": "synonym"
                },
                {
                    "name": "migration-inducing gene 13",
                    "resource": "RefSeq",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "DHPS",
                    "resource": "UniProtKB",
                    "type": "recommended"
                },
                {
                    "name": "DHPS",
                    "resource": "RefSeq",
                    "type": "synonym"
                },
                {
                    "name": "DHS; DS; MIG13; NEDSSWI",
                    "resource": "RefSeq",
                    "type": "synonym"
                },
                {
                    "name": "DS",
                    "resource": "UniProtKB",
                    "type": "synonym"
                }
            ],
            "evidence": [
                {
                    "id": "11044",
                    "database": "Alliance of Genome Resources",
                    "url": "https://www.alliancegenome.org/disease/DOID:11044"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q15075-1",
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                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Early endosome antigen 1",
                    "resource": "UniProtKB",
                    "type": "recommended"
                },
                {
                    "name": "Endosome-associated protein p162",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "Zinc finger FYVE domain-containing protein 2",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "early endosome antigen 1",
                    "resource": "RefSeq",
                    "type": "synonym"
                },
                {
                    "name": "early endosome-associated protein; early endosome antigen 1, 162kD; endosome-associated protein p162; zinc finger FYVE domain-containing protein 2",
                    "resource": "RefSeq",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "EEA1",
                    "resource": "UniProtKB",
                    "type": "recommended"
                },
                {
                    "name": "EEA1",
                    "resource": "RefSeq",
                    "type": "synonym"
                },
                {
                    "name": "MST105; MSTP105; ZFYVE2",
                    "resource": "RefSeq",
                    "type": "synonym"
                },
                {
                    "name": "ZFYVE2",
                    "resource": "UniProtKB",
                    "type": "synonym"
                }
            ],
            "evidence": [
                {
                    "id": "11044",
                    "database": "Alliance of Genome Resources",
                    "url": "https://www.alliancegenome.org/disease/DOID:11044"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P57739-1",
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                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
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                {
                    "name": "Claudin-2",
                    "resource": "UniProtKB",
                    "type": "recommended"
                },
                {
                    "name": "SP82",
                    "resource": "RefSeq",
                    "type": "synonym"
                },
                {
                    "name": "SP82",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "claudin-2",
                    "resource": "RefSeq",
                    "type": "synonym"
                }
            ],
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                {
                    "name": "CLDN2",
                    "resource": "UniProtKB",
                    "type": "recommended"
                },
                {
                    "name": "CLDN2",
                    "resource": "RefSeq",
                    "type": "synonym"
                },
                {
                    "name": "PRO1356",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "PSEC0059",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "SP82",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "claudin-2; OAZON",
                    "resource": "RefSeq",
                    "type": "synonym"
                }
            ],
            "evidence": [
                {
                    "id": "11044",
                    "database": "Alliance of Genome Resources",
                    "url": "https://www.alliancegenome.org/disease/DOID:11044"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P35228-1",
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            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
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                {
                    "name": "Nitric oxide synthase, inducible",
                    "resource": "UniProtKB",
                    "type": "recommended"
                },
                {
                    "name": "1.14.13.39",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "HEP-NOS",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "Hepatocyte NOS",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "Inducible NO synthase",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "Inducible NOS",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "NOS type II",
                    "resource": "UniProtKB",
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                },
                {
                    "name": "Peptidyl-cysteine S-nitrosylase NOS2",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "iNOS",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "nitric oxide synthase 2A (inducible, hepatocytes); NOS, type II; nitric oxide synthase, macrophage; inducible NOS; hepatocyte NOS; inducible NO synthase; peptidyl-cysteine S-nitrosylase NOS2; nitric oxide synthase 2, inducible",
                    "resource": "RefSeq",
                    "type": "synonym"
                },
                {
                    "name": "nitric oxide synthase, inducible",
                    "resource": "RefSeq",
                    "type": "synonym"
                }
            ],
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                    "name": "NOS2",
                    "resource": "UniProtKB",
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                },
                {
                    "name": "HEP-NOS; INOS; NOS; NOS2A",
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                    "type": "synonym"
                },
                {
                    "name": "NOS2A",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "NOS2",
                    "resource": "RefSeq",
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                }
            ],
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                {
                    "id": "11044",
                    "database": "Alliance of Genome Resources",
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                }
            ]
        },
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                {
                    "name": "Homo sapiens",
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                }
            ],
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                {
                    "name": "Insulin-like growth factor 1 receptor",
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                    "type": "recommended"
                },
                {
                    "name": "2.7.10.1",
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                    "type": "synonym"
                },
                {
                    "name": "IGF-I receptor",
                    "resource": "RefSeq",
                    "type": "synonym"
                },
                {
                    "name": "IGF-I receptor",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "Insulin-like growth factor I receptor",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "insulin-like growth factor 1 receptor isoform 1 precursor",
                    "resource": "RefSeq",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "IGF1R",
                    "resource": "UniProtKB",
                    "type": "recommended"
                },
                {
                    "name": "CD221; IGFIR; IGFR; JTK13",
                    "resource": "RefSeq",
                    "type": "synonym"
                },
                {
                    "name": "IGF1R",
                    "resource": "RefSeq",
                    "type": "synonym"
                }
            ],
            "evidence": [
                {
                    "id": "11044",
                    "database": "Alliance of Genome Resources",
                    "url": "https://www.alliancegenome.org/disease/DOID:11044"
                }
            ]
        },
        {
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                    "name": "Homo sapiens",
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                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
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                {
                    "name": "Mast/stem cell growth factor receptor Kit",
                    "resource": "UniProtKB",
                    "type": "recommended"
                },
                {
                    "name": "2.7.10.1",
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                    "type": "synonym"
                },
                {
                    "name": "PBT",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "Piebald trait protein",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "Proto-oncogene c-Kit",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "SCFR",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "Tyrosine-protein kinase Kit",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "mast/stem cell growth factor receptor Kit isoform 1 precursor",
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                    "type": "synonym"
                },
                {
                    "name": "p145 c-kit",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "proto-oncogene tyrosine-protein kinase Kit; v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene-like protein; proto-oncogene c-Kit; p145 c-kit; piebald trait protein; mast/stem cell growth factor receptor Kit; v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog; c-Kit protooncogene",
                    "resource": "RefSeq",
                    "type": "synonym"
                },
                {
                    "name": "v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog",
                    "resource": "UniProtKB",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "KIT",
                    "resource": "UniProtKB",
                    "type": "recommended"
                },
                {
                    "name": "C-Kit; CD117; MASTC; PBT; SCFR",
                    "resource": "RefSeq",
                    "type": "synonym"
                },
                {
                    "name": "KIT",
                    "resource": "RefSeq",
                    "type": "synonym"
                },
                {
                    "name": "SCFR",
                    "resource": "UniProtKB",
                    "type": "synonym"
                }
            ],
            "evidence": [
                {
                    "id": "11044",
                    "database": "Alliance of Genome Resources",
                    "url": "https://www.alliancegenome.org/disease/DOID:11044"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q07954-1",
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            "glycoprotein": "yes",
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                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
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                {
                    "name": "Prolow-density lipoprotein receptor-related protein 1",
                    "resource": "UniProtKB",
                    "type": "recommended"
                },
                {
                    "name": "A2MR",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "APOER",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "Alpha-2-macroglobulin receptor",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "Apolipoprotein E receptor",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "LRP-1",
                    "resource": "UniProtKB",
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                },
                {
                    "name": "prolow-density lipoprotein receptor-related protein 1 preproprotein",
                    "resource": "RefSeq",
                    "type": "synonym"
                },
                {
                    "name": "type V tgf-beta receptor; prolow-density lipoprotein receptor-related protein 1; TbetaR-V/LRP-1/IGFBP-3 receptor; alpha-2-macroglobulin receptor; apolipoprotein E receptor; low density lipoprotein receptor-related protein 1",
                    "resource": "RefSeq",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "LRP1",
                    "resource": "UniProtKB",
                    "type": "recommended"
                },
                {
                    "name": "A2MR; APOER; APR; CD91; DDH3; IGFBP-3R; IGFBP3R; IGFBP3R1; KPA; LRP; LRP1A; TGFBR5",
                    "resource": "RefSeq",
                    "type": "synonym"
                },
                {
                    "name": "A2MR",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "APR",
                    "resource": "UniProtKB",
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                },
                {
                    "name": "LRP1",
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                    "type": "synonym"
                }
            ],
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                {
                    "id": "11044",
                    "database": "Alliance of Genome Resources",
                    "url": "https://www.alliancegenome.org/disease/DOID:11044"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P35611-1",
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            "glycoprotein": "yes",
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                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
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                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Alpha-adducin",
                    "resource": "UniProtKB",
                    "type": "recommended"
                },
                {
                    "name": "Erythrocyte adducin subunit alpha",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "alpha-adducin isoform a",
                    "resource": "RefSeq",
                    "type": "synonym"
                },
                {
                    "name": "erythrocyte adducin alpha subunit; alpha-adducin; adducin 1 (alpha); alpha-adducin 1",
                    "resource": "RefSeq",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "ADD1",
                    "resource": "UniProtKB",
                    "type": "recommended"
                },
                {
                    "name": "ADD1",
                    "resource": "RefSeq",
                    "type": "synonym"
                },
                {
                    "name": "ADDA",
                    "resource": "RefSeq",
                    "type": "synonym"
                },
                {
                    "name": "ADDA",
                    "resource": "UniProtKB",
                    "type": "synonym"
                }
            ],
            "evidence": [
                {
                    "id": "11044",
                    "database": "Alliance of Genome Resources",
                    "url": "https://www.alliancegenome.org/disease/DOID:11044"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0A8M9PQG8-1",
            "uniprot_ac": "A0A8M9PQG8",
            "uniprot_id": "A0A8M9PQG8_DANRE",
            "refseq_ac": "XP_021324516",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Alpha-adducin isoform X1",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "alpha-adducin isoform X1",
                    "resource": "RefSeq",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "add1",
                    "resource": "UniProtKB",
                    "type": "recommended"
                },
                {
                    "name": "add1",
                    "resource": "RefSeq",
                    "type": "synonym"
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                {
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    "record_id": "doid.11044"
}