{
    "disease_id": "DOID:0050473",
    "recommended_name": {
        "id": "DOID:0050473",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0050473",
        "name": "Alstrom syndrome",
        "description": "A syndrome that is characterized by multiorgan dysfunction. The key features are childhood obesity, blindness due to congenital retinal dystrophy, and sensorineural hearing loss with autosomal recessive inheritance and has_material_basis_in mutations in the ALMS1 gene."
    },
    "synonyms": [
        {
            "id": "MONDO:0008763",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008763",
            "name": "Alstrom syndrome",
            "description": "A multisystemic disorder characterized by cone-rod dystrophy, hearing loss, obesity, insulin resistance and hyperinsulinemia, type 2 diabetes mellitus, dilated cardiomyopathy (DCM), and progressive hepatic and renal dysfunction."
        },
        {
            "id": "MONDO:0008763",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008763",
            "name": "ALMS",
            "description": ""
        },
        {
            "id": "MONDO:0008763",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008763",
            "name": "ALSS",
            "description": ""
        },
        {
            "id": "MONDO:0008763",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008763",
            "name": "Alstrom syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0008763",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008763",
            "name": "Alstrom's syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0008763",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008763",
            "name": "Alstrm Syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0008763",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008763",
            "name": "Alstrm syndrome",
            "description": ""
        },
        {
            "id": "MIM:203800",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/203800",
            "name": "Alstrom syndrome",
            "description": "Alstrom syndrome"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0050473"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0050473",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0050473",
            "categories": []
        },
        {
            "id": "MONDO:0008763",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008763",
            "categories": []
        },
        {
            "id": "MIM:203800",
            "database": "MIM",
            "url": "https://www.omim.org/entry/203800",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0AC58H474-1",
            "uniprot_ac": "A0AC58H474",
            "uniprot_id": "A0AC58H474_DANRE",
            "refseq_ac": "NP_001429403",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "ALMS1 centrosome and basal body associated protein isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "Alstrom syndrome 1",
                    "type": "synonym"
                },
                {
                    "name": "Alstrom syndrome protein 1 homolog",
                    "type": "synonym"
                },
                {
                    "name": "Alstrom syndrome protein 1",
                    "type": "synonym"
                },
                {
                    "name": "Centrosome-associated protein ALMS1 isoform X1",
                    "type": "synonym"
                },
                {
                    "name": "serine-rich adhesin for platelets",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "alms1",
                    "type": "recommended"
                },
                {
                    "name": "alms1",
                    "type": "synonym"
                },
                {
                    "name": "fe01b06",
                    "type": "synonym"
                },
                {
                    "name": "si:ch211-243o19.5",
                    "type": "synonym"
                },
                {
                    "name": "si:dkey-265c15.2",
                    "type": "synonym"
                },
                {
                    "name": "wu:fe01b06",
                    "type": "synonym"
                }
            ],
            "record_id": "A0AC58H474-1",
            "evidence": [
                {
                    "id": "0050473",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050473"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q8K4E0-1",
            "uniprot_ac": "Q8K4E0",
            "uniprot_id": "ALMS1_MOUSE",
            "refseq_ac": "NP_660258",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Centrosome-associated protein ALMS1",
                    "type": "recommended"
                },
                {
                    "name": "Alstrom syndrome 1 homolog",
                    "type": "synonym"
                },
                {
                    "name": "Alstrom syndrome protein 1 homolog",
                    "type": "synonym"
                },
                {
                    "name": "alstrom syndrome protein 1 homolog",
                    "type": "synonym"
                },
                {
                    "name": "centrosome-associated protein ALMS1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Alms1",
                    "type": "recommended"
                },
                {
                    "name": "Alms1",
                    "type": "synonym"
                },
                {
                    "name": "Kiaa0328",
                    "type": "synonym"
                },
                {
                    "name": "bbb",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8K4E0-1",
            "evidence": [
                {
                    "id": "0050473",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050473"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q8TCU4-1",
            "uniprot_ac": "Q8TCU4",
            "uniprot_id": "ALMS1_HUMAN",
            "refseq_ac": "NP_055935",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Centrosome-associated protein ALMS1",
                    "type": "recommended"
                },
                {
                    "name": "Alstrom syndrome 1",
                    "type": "synonym"
                },
                {
                    "name": "Alstrom syndrome protein 1",
                    "type": "synonym"
                },
                {
                    "name": "centrosome-associated protein ALMS1 isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "centrosome-associated protein ALMS1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "ALMS1",
                    "type": "recommended"
                },
                {
                    "name": "ALMS1",
                    "type": "synonym"
                },
                {
                    "name": "ALSS",
                    "type": "synonym"
                },
                {
                    "name": "KIAA0328",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8TCU4-1",
            "evidence": [
                {
                    "id": "203800",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/203800"
                },
                {
                    "id": "0050473",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050473"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0A8I6G4M9-1",
            "uniprot_ac": "A0A8I6G4M9",
            "uniprot_id": "A0A8I6G4M9_RAT",
            "refseq_ac": "XP_038963277",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "ALMS1, centrosome and basal body associated protein",
                    "type": "synonym"
                },
                {
                    "name": "centrosome-associated protein ALMS1 isoform X2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Alms1",
                    "type": "recommended"
                },
                {
                    "name": "Alms1",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8I6G4M9-1",
            "evidence": [
                {
                    "id": "0050473",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050473"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0050473"
}