{
    "disease_id": "DOID:0060464",
    "recommended_name": {
        "id": "DOID:0060464",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0060464",
        "name": "Feingold syndrome",
        "description": "A syndrome characterized by variable combinations of microcephaly, limb malformations, esophageal and duodenal atresias, and learning disability/mental retardation."
    },
    "synonyms": [
        {
            "id": "DOID:0060464",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060464",
            "name": "microcephaly-oculo-digito-esophageal-duodenal syndrome",
            "description": ""
        },
        {
            "id": "DOID:0060464",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060464",
            "name": "microcephaly-digital anomalies-normal intelligence syndrome",
            "description": ""
        },
        {
            "id": "DOID:0060464",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060464",
            "name": "FGLDS",
            "description": ""
        },
        {
            "id": "DOID:0060464",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060464",
            "name": "MODED syndrome",
            "description": ""
        },
        {
            "id": "DOID:0060464",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060464",
            "name": "ODED syndrome",
            "description": ""
        },
        {
            "id": "DOID:0060464",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060464",
            "name": "oculo-digito-esophageal-duodenal syndrome",
            "description": ""
        },
        {
            "id": "DOID:0060464",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060464",
            "name": "digital anomalies with short palpebral fissures and atresia of esophagus or duodenum",
            "description": ""
        },
        {
            "id": "MONDO:0008115",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008115",
            "name": "Feingold syndrome type 1",
            "description": "Feingold syndrome type 1 (FS1) is a rare inherited malformation syndrome characterized by microcephaly, short stature and numerous digital anomalies."
        },
        {
            "id": "MONDO:0008115",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008115",
            "name": "Brunner-Winter syndrome type 1",
            "description": ""
        },
        {
            "id": "MONDO:0008115",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008115",
            "name": "FGLDS1",
            "description": ""
        },
        {
            "id": "MONDO:0008115",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008115",
            "name": "FS1",
            "description": ""
        },
        {
            "id": "MONDO:0008115",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008115",
            "name": "Feingold syndrome caused by mutation in MYCN",
            "description": ""
        },
        {
            "id": "MONDO:0008115",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008115",
            "name": "Feingold syndrome type 1",
            "description": ""
        },
        {
            "id": "MONDO:0008115",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008115",
            "name": "MMT type 1",
            "description": ""
        },
        {
            "id": "MONDO:0008115",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008115",
            "name": "MODED syndrome type 1",
            "description": ""
        },
        {
            "id": "MONDO:0008115",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008115",
            "name": "MYCN Feingold syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0008115",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008115",
            "name": "ODED syndrome type 1",
            "description": ""
        },
        {
            "id": "MONDO:0008115",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008115",
            "name": "digital anomalies with short palpebral fissures and atresia of esophagus or duodenum type 1",
            "description": ""
        },
        {
            "id": "MONDO:0008115",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008115",
            "name": "digital anomalies with short palpebral fissures and atresia of oesophagus or duodenum type 1",
            "description": ""
        },
        {
            "id": "MONDO:0008115",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008115",
            "name": "microcephaly-digital anomalies-normal intelligence syndrome type 1",
            "description": ""
        },
        {
            "id": "MONDO:0008115",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008115",
            "name": "microcephaly-intellectual disability-tracheoesophageal fistula syndrome type 1",
            "description": ""
        },
        {
            "id": "MONDO:0008115",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008115",
            "name": "microcephaly-oculo-digito-esophageal-duodenal syndrome syndrome type 1",
            "description": ""
        },
        {
            "id": "MONDO:0008115",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008115",
            "name": "oculo-digito-esophageal-duodenal syndrome type 1",
            "description": ""
        },
        {
            "id": "MONDO:0008115",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008115",
            "name": "Feingold syndrome 1",
            "description": ""
        },
        {
            "id": "MONDO:0008115",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008115",
            "name": "digital anomalies with short palpebral fissures and atresia of oesophagus or duodenum",
            "description": ""
        },
        {
            "id": "MONDO:0008115",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008115",
            "name": "microcephaly, mental retardation, and tracheoesophageal fistula syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0013691",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013691",
            "name": "Feingold syndrome type 2",
            "description": "Feingold syndrome type 2 (FS2) is a rare inherited malformation syndrome characterized by skeletal abnormalities and mild intellectual disabilities similar to those seen in Feingold syndrome type 1 (FS1) but that lacks the manifestations of gastrointestinal atresia and short palpebral fissures."
        },
        {
            "id": "MONDO:0013691",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013691",
            "name": "Brunner-Winter syndrome type 2",
            "description": ""
        },
        {
            "id": "MONDO:0013691",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013691",
            "name": "FGLDS2",
            "description": ""
        },
        {
            "id": "MONDO:0013691",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013691",
            "name": "FS2",
            "description": ""
        },
        {
            "id": "MONDO:0013691",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013691",
            "name": "Feingold syndrome type 2",
            "description": ""
        },
        {
            "id": "MONDO:0013691",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013691",
            "name": "MMT type 2",
            "description": ""
        },
        {
            "id": "MONDO:0013691",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013691",
            "name": "brachydactyly-short stature-microcephaly syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0013691",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013691",
            "name": "microcephaly-digital anomalies-normal intelligence syndrome type 2",
            "description": ""
        },
        {
            "id": "MONDO:0013691",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013691",
            "name": "microcephaly-intellectual disability-tracheoesophageal fistula syndrome type 2",
            "description": ""
        },
        {
            "id": "MONDO:0013691",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013691",
            "name": "Feingold syndrome 2",
            "description": ""
        },
        {
            "id": "MIM:164280",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/164280",
            "name": "Feingold syndrome 1",
            "description": "Feingold syndrome 1"
        },
        {
            "id": "MIM:614326",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/614326",
            "name": "Feingold syndrome 2",
            "description": "Feingold syndrome 2"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0060464"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0060464",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060464",
            "categories": []
        },
        {
            "id": "MONDO:0008115",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008115",
            "categories": []
        },
        {
            "id": "MONDO:0013691",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013691",
            "categories": []
        },
        {
            "id": "MIM:164280",
            "database": "MIM",
            "url": "https://www.omim.org/entry/164280",
            "categories": []
        },
        {
            "id": "MIM:614326",
            "database": "MIM",
            "url": "https://www.omim.org/entry/614326",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q9PSJ0-1",
            "uniprot_ac": "Q9PSJ0",
            "uniprot_id": "MYCN_DANRE",
            "refseq_ac": "",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "N-myc protein",
                    "type": "recommended"
                },
                {
                    "name": "zN-Myc",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "mycn",
                    "type": "recommended"
                },
                {
                    "name": "nmyc1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9PSJ0-1",
            "evidence": [
                {
                    "id": "0060464",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060464"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9Z304-1",
            "uniprot_ac": "Q9Z304",
            "uniprot_id": "MYCS_MOUSE",
            "refseq_ac": "NP_034980",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Protein S-Myc",
                    "type": "recommended"
                },
                {
                    "name": "protein S-Myc",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Mycs",
                    "type": "recommended"
                },
                {
                    "name": "Mycs",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9Z304-1",
            "evidence": [
                {
                    "id": "0060464",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060464"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P03966-1",
            "uniprot_ac": "P03966",
            "uniprot_id": "MYCN_MOUSE",
            "refseq_ac": "NP_032735",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "N-myc proto-oncogene protein",
                    "type": "recommended"
                },
                {
                    "name": "N-myc proto-oncogene protein",
                    "type": "synonym"
                },
                {
                    "name": "neuroblastoma myc-related oncogene 1",
                    "type": "synonym"
                },
                {
                    "name": "v-myc avian myelocytomatosis viral related oncogene, neuroblastoma derived",
                    "type": "synonym"
                },
                {
                    "name": "v-myc myelocytomatosis viral related oncogene, neuroblastoma derived",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Mycn",
                    "type": "recommended"
                },
                {
                    "name": "Mycn",
                    "type": "synonym"
                },
                {
                    "name": "N-myc",
                    "type": "synonym"
                },
                {
                    "name": "Nmyc-1",
                    "type": "synonym"
                },
                {
                    "name": "Nmyc1",
                    "type": "synonym"
                },
                {
                    "name": "Nmyc",
                    "type": "synonym"
                },
                {
                    "name": "bHLHe37",
                    "type": "synonym"
                },
                {
                    "name": "c-nmyc",
                    "type": "synonym"
                }
            ],
            "record_id": "P03966-1",
            "evidence": [
                {
                    "id": "0060464",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060464"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q75NE6-1",
            "uniprot_ac": "Q75NE6",
            "uniprot_id": "MIRH1_HUMAN",
            "refseq_ac": "",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Putative microRNA 17 host gene protein",
                    "type": "recommended"
                },
                {
                    "name": "Putative microRNA host gene 1 protein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "MIR17HG",
                    "type": "recommended"
                },
                {
                    "name": "C13orf25",
                    "type": "synonym"
                },
                {
                    "name": "MIRH1",
                    "type": "synonym"
                },
                {
                    "name": "MIRHG1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q75NE6-1",
            "evidence": [
                {
                    "id": "614326",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/614326"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P04198-1",
            "uniprot_ac": "P04198",
            "uniprot_id": "MYCN_HUMAN",
            "refseq_ac": "NP_001280160",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "N-myc proto-oncogene protein",
                    "type": "recommended"
                },
                {
                    "name": "Class E basic helix-loop-helix protein 37",
                    "type": "synonym"
                },
                {
                    "name": "N-myc proto-oncogene protein isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "N-myc proto-oncogene protein",
                    "type": "synonym"
                },
                {
                    "name": "bHLHe37",
                    "type": "synonym"
                },
                {
                    "name": "class E basic helix-loop-helix protein 37",
                    "type": "synonym"
                },
                {
                    "name": "neuroblastoma MYC oncogene",
                    "type": "synonym"
                },
                {
                    "name": "neuroblastoma-derived v-myc avian myelocytomatosis viral related oncogene",
                    "type": "synonym"
                },
                {
                    "name": "oncogene NMYC",
                    "type": "synonym"
                },
                {
                    "name": "v-myc avian myelocytomatosis viral oncogene neuroblastoma derived homolog",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "MYCN",
                    "type": "recommended"
                },
                {
                    "name": "BHLHE37",
                    "type": "synonym"
                },
                {
                    "name": "FGLDS1",
                    "type": "synonym"
                },
                {
                    "name": "MODED",
                    "type": "synonym"
                },
                {
                    "name": "MPAPA",
                    "type": "synonym"
                },
                {
                    "name": "MYCNsORF",
                    "type": "synonym"
                },
                {
                    "name": "MYCNsPEP",
                    "type": "synonym"
                },
                {
                    "name": "MYCN",
                    "type": "synonym"
                },
                {
                    "name": "N-myc",
                    "type": "synonym"
                },
                {
                    "name": "NMYC",
                    "type": "synonym"
                },
                {
                    "name": "ODED",
                    "type": "synonym"
                },
                {
                    "name": "bHLHe37",
                    "type": "synonym"
                }
            ],
            "record_id": "P04198-1",
            "evidence": [
                {
                    "id": "164280",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/164280"
                },
                {
                    "id": "0060464",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060464"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q63379-1",
            "uniprot_ac": "Q63379",
            "uniprot_id": "MYCN_RAT",
            "refseq_ac": "NP_001013114",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "N-myc proto-oncogene protein",
                    "type": "recommended"
                },
                {
                    "name": "Avian myelocytomatosis viral (v-myc) related oncogene, neuroblastoma derived (Nmyc)",
                    "type": "synonym"
                },
                {
                    "name": "N-myc proto-oncogene protein",
                    "type": "synonym"
                },
                {
                    "name": "v-myc avian myelocytomatosis viral oncogene neuroblastoma derived homolog",
                    "type": "synonym"
                },
                {
                    "name": "v-myc myelocytomatosis viral related oncogene, neuroblastoma derived",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Mycn",
                    "type": "recommended"
                },
                {
                    "name": "Mycn",
                    "type": "synonym"
                },
                {
                    "name": "N-myc",
                    "type": "synonym"
                },
                {
                    "name": "Nmuc1",
                    "type": "synonym"
                },
                {
                    "name": "Nmyc1",
                    "type": "synonym"
                },
                {
                    "name": "Nmyc",
                    "type": "synonym"
                }
            ],
            "record_id": "Q63379-1",
            "evidence": [
                {
                    "id": "0060464",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060464"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P23999-1",
            "uniprot_ac": "P23999",
            "uniprot_id": "MYCS_RAT",
            "refseq_ac": "NP_068609",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Protein S-Myc",
                    "type": "recommended"
                },
                {
                    "name": "protein S-Myc",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Mycs",
                    "type": "recommended"
                },
                {
                    "name": "Mycs",
                    "type": "synonym"
                }
            ],
            "record_id": "P23999-1",
            "evidence": [
                {
                    "id": "0060464",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060464"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q15125-1",
            "uniprot_ac": "Q15125",
            "uniprot_id": "EBP_HUMAN",
            "refseq_ac": "NP_006570",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "3-beta-hydroxysteroid-Delta(8),Delta(7)-isomerase",
                    "type": "recommended"
                },
                {
                    "name": "3-beta-hydroxysteroid-Delta(8), Delta(7)-isomerase",
                    "type": "synonym"
                },
                {
                    "name": "3-beta-hydroxysteroid-delta-8,delta-7-isomerase",
                    "type": "synonym"
                },
                {
                    "name": "3.3.2.11",
                    "type": "synonym"
                },
                {
                    "name": "5.3.3.5",
                    "type": "synonym"
                },
                {
                    "name": "Cholestenol Delta-isomerase",
                    "type": "synonym"
                },
                {
                    "name": "Cholesterol-5,6-epoxide hydrolase subunit EBP",
                    "type": "synonym"
                },
                {
                    "name": "Chondrodysplasia punctata-2, X-linked dominant (Happle syndrome)",
                    "type": "synonym"
                },
                {
                    "name": "D8-D7 sterol isomerase",
                    "type": "synonym"
                },
                {
                    "name": "Delta(8)-Delta(7) sterol isomerase",
                    "type": "synonym"
                },
                {
                    "name": "Emopamil-binding protein",
                    "type": "synonym"
                },
                {
                    "name": "cholestenol Delta-isomerase",
                    "type": "synonym"
                },
                {
                    "name": "cholesterol-5,6-epoxide hydrolase subunit EBP",
                    "type": "synonym"
                },
                {
                    "name": "delta(8)-Delta(7) sterol isomerase",
                    "type": "synonym"
                },
                {
                    "name": "emopamil binding protein (sterol isomerase)",
                    "type": "synonym"
                },
                {
                    "name": "emopamil-binding protein",
                    "type": "synonym"
                },
                {
                    "name": "sterol 8-isomerase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "EBP",
                    "type": "recommended"
                },
                {
                    "name": "CDPX2",
                    "type": "synonym"
                },
                {
                    "name": "CHO2",
                    "type": "synonym"
                },
                {
                    "name": "CPXD",
                    "type": "synonym"
                },
                {
                    "name": "CPX",
                    "type": "synonym"
                },
                {
                    "name": "D8D7I",
                    "type": "synonym"
                },
                {
                    "name": "EBP",
                    "type": "synonym"
                },
                {
                    "name": "MEND",
                    "type": "synonym"
                }
            ],
            "record_id": "Q15125-1",
            "evidence": [
                {
                    "id": "0060464",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060464"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0060464"
}