{
    "disease_id": "DOID:0060354",
    "recommended_name": {
        "id": "DOID:0060354",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0060354",
        "name": "Stormorken syndrome",
        "description": "A blood platelet disease characterized by thrombocytopathy, thrombocytopenia, mild anemia, asplenia, tubular aggregate myopathy, miosis, headache, and ichthyosis. It has_material_basis_in heterozygous mutation in the STM1 gene on chromosome 11p15. It has an autosomal dominant inheritance pattern."
    },
    "synonyms": [
        {
            "id": "DOID:0060354",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060354",
            "name": "thrombocytopathy, asplenia and miosis",
            "description": ""
        },
        {
            "id": "MONDO:0008497",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008497",
            "name": "Stormorken syndrome",
            "description": "Stormorken-Sjaastad-Langslet syndrome is characterized by thrombocytopathy, asplenia, miosis, muscle fatigue, migraine, dyslexia, and ichthyosis. It has been described in six members of one family. It is transmitted as an autosomal dominant trait."
        },
        {
            "id": "MONDO:0008497",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008497",
            "name": "Stormorken syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0008497",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008497",
            "name": "Thrombocytopathy-asplenia-miosis syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0008497",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008497",
            "name": "STRMK",
            "description": ""
        },
        {
            "id": "MONDO:0008497",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008497",
            "name": "Thrombocytopathy asplenia miosis",
            "description": ""
        },
        {
            "id": "MIM:185070",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/185070",
            "name": "Stormorken syndrome",
            "description": "Stormorken syndrome"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0060354"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0060354",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060354",
            "categories": []
        },
        {
            "id": "MONDO:0008497",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008497",
            "categories": []
        },
        {
            "id": "MIM:185070",
            "database": "MIM",
            "url": "https://www.omim.org/entry/185070",
            "categories": []
        }
    ],
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        {
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            "uniprot_ac": "A0AC58I7Q6",
            "uniprot_id": "A0AC58I7Q6_DANRE",
            "refseq_ac": "XP_073790261",
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                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
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                {
                    "name": "Stromal interaction molecule 1b isoform X1",
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                    "name": "stromal interaction molecule 1b isoform X1",
                    "type": "synonym"
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                    "name": "stim1b",
                    "type": "recommended"
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                {
                    "name": "si:ch211-112l17.2",
                    "type": "synonym"
                },
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                    "name": "stim1b",
                    "type": "synonym"
                },
                {
                    "name": "stim1",
                    "type": "synonym"
                }
            ],
            "record_id": "A0AC58I7Q6-1",
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                {
                    "id": "0060354",
                    "database": "AGR",
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            ]
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                    "name": "Danio rerio",
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                {
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                    "name": "zgc:109721",
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            ],
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                {
                    "id": "0060354",
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                    "url": "https://www.alliancegenome.org/disease/DOID:0060354"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q8BWG9-1",
            "uniprot_ac": "Q8BWG9",
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                {
                    "name": "Mus musculus",
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                    "name": "D730049H07Rik",
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                    "name": "Tmem142a",
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                    "id": "0060354",
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                    "id": "0060354",
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                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Calcium release-activated calcium channel protein 1",
                    "type": "recommended"
                },
                {
                    "name": "Protein orai-1",
                    "type": "synonym"
                },
                {
                    "name": "Transmembrane protein 142A",
                    "type": "synonym"
                },
                {
                    "name": "calcium release-activated calcium channel protein 1",
                    "type": "synonym"
                },
                {
                    "name": "calcium release-activated calcium modulator 1",
                    "type": "synonym"
                },
                {
                    "name": "protein orai-1",
                    "type": "synonym"
                },
                {
                    "name": "transmembrane protein 142A",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "ORAI1",
                    "type": "recommended"
                },
                {
                    "name": "CRACM1",
                    "type": "synonym"
                },
                {
                    "name": "IMD9",
                    "type": "synonym"
                },
                {
                    "name": "ORAI1",
                    "type": "synonym"
                },
                {
                    "name": "ORAT1",
                    "type": "synonym"
                },
                {
                    "name": "TAM2",
                    "type": "synonym"
                },
                {
                    "name": "TMEM142A",
                    "type": "synonym"
                }
            ],
            "record_id": "Q96D31-1",
            "evidence": [
                {
                    "id": "0060354",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060354"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0060354"
}