{
    "disease_id": "DOID:0061224",
    "recommended_name": {
        "id": "DOID:0061224",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0061224",
        "name": "Majeed syndrome",
        "description": "An autoinflammatory disease characterized by characterized by chronic recurrent multifocal osteomyelitis (CRMO) and congenital dyserythropoietic anemia that has_material_basis_in homozygous mutation in the LPIN2 gene on chromosome 18p11."
    },
    "synonyms": [
        {
            "id": "DOID:0061224",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0061224",
            "name": "chronic recurrent multifocal osteomyelitis-congenital dyserythropoietic anemia-neutrophilic dermatosis syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0012316",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012316",
            "name": "Majeed syndrome",
            "description": "Majeed syndrome is a rare genetic multisystemic disorder characterized by the triad of chronic recurrent multifocal osteomyelitis, congenital dyserythropoietic anemia, and variable transient inflammatory dermatosis."
        },
        {
            "id": "MONDO:0012316",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012316",
            "name": "Majeed syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0012316",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012316",
            "name": "chronic recurrent multifocal osteomyelitis-congenital dyserythropoietic anemia-neutrophilic dermatosis syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0012316",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012316",
            "name": "CDA and CRMO",
            "description": ""
        },
        {
            "id": "MONDO:0012316",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012316",
            "name": "MJDS",
            "description": ""
        },
        {
            "id": "MONDO:0012316",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012316",
            "name": "chronic recurrent multifocal osteomyelitis, congenital",
            "description": ""
        },
        {
            "id": "MONDO:0012316",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012316",
            "name": "congenital dyserythropoietic anaemia and chronic recurrent multifocal osteomyelitis",
            "description": ""
        },
        {
            "id": "MONDO:0012316",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012316",
            "name": "congenital dyserythropoietic anemia and chronic recurrent multifocal osteomyelitis",
            "description": ""
        },
        {
            "id": "MONDO:0012316",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012316",
            "name": "dyserythropoietic anemia, and neutrophilic dermatosis",
            "description": ""
        },
        {
            "id": "MIM:609628",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/609628",
            "name": "Majeed syndrome",
            "description": "Majeed syndrome"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0061224"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0061224",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0061224",
            "categories": []
        },
        {
            "id": "MONDO:0012316",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012316",
            "categories": []
        },
        {
            "id": "MIM:609628",
            "database": "MIM",
            "url": "https://www.omim.org/entry/609628",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0A8M2BAN1-1",
            "uniprot_ac": "A0A8M2BAN1",
            "uniprot_id": "A0A8M2BAN1_DANRE",
            "refseq_ac": "XP_005163511",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "phosphatidate phosphatase",
                    "type": "recommended"
                },
                {
                    "name": "3.1.3.4",
                    "type": "synonym"
                },
                {
                    "name": "phosphatidate phosphatase LPIN2 isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "lpin2",
                    "type": "recommended"
                },
                {
                    "name": "lpin2",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8M2BAN1-1",
            "evidence": [
                {
                    "id": "0061224",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0061224"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q99PI5-1",
            "uniprot_ac": "Q99PI5",
            "uniprot_id": "LPIN2_MOUSE",
            "refseq_ac": "NP_075020",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Phosphatidate phosphatase LPIN2",
                    "type": "recommended"
                },
                {
                    "name": "3.1.3.4",
                    "type": "synonym"
                },
                {
                    "name": "Lipin-2",
                    "type": "synonym"
                },
                {
                    "name": "phosphatidate phosphatase LPIN2 isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "phosphatidate phosphatase LPIN2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Lpin2",
                    "type": "recommended"
                },
                {
                    "name": "2610511G02Rik",
                    "type": "synonym"
                },
                {
                    "name": "Lpin2",
                    "type": "synonym"
                }
            ],
            "record_id": "Q99PI5-1",
            "evidence": [
                {
                    "id": "0061224",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0061224"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q92539-1",
            "uniprot_ac": "Q92539",
            "uniprot_id": "LPIN2_HUMAN",
            "refseq_ac": "NP_055461",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Phosphatidate phosphatase LPIN2",
                    "type": "recommended"
                },
                {
                    "name": "3.1.3.4",
                    "type": "synonym"
                },
                {
                    "name": "Lipin-2",
                    "type": "synonym"
                },
                {
                    "name": "phosphatidate phosphatase LPIN2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "LPIN2",
                    "type": "recommended"
                },
                {
                    "name": "CRMO1",
                    "type": "synonym"
                },
                {
                    "name": "KIAA0249",
                    "type": "synonym"
                },
                {
                    "name": "LPIN2",
                    "type": "synonym"
                },
                {
                    "name": "MJDS",
                    "type": "synonym"
                }
            ],
            "record_id": "Q92539-1",
            "evidence": [
                {
                    "id": "609628",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/609628"
                },
                {
                    "id": "0061224",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0061224"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P32567-1",
            "uniprot_ac": "P32567",
            "uniprot_id": "PAH1_YEAST",
            "refseq_ac": "NP_013888",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Saccharomyces cerevisiae S288C",
                    "taxid": 559292,
                    "common_name": "Baker's yeast",
                    "glygen_name": "Yeast",
                    "reference_species": "Saccharomyces cerevisiae S288C [559292]"
                }
            ],
            "protein_names": [
                {
                    "name": "Phosphatidic acid phosphohydrolase 1",
                    "type": "recommended"
                },
                {
                    "name": "3.1.3.4",
                    "type": "synonym"
                },
                {
                    "name": "PAP1",
                    "type": "synonym"
                },
                {
                    "name": "Protein SMP2",
                    "type": "synonym"
                },
                {
                    "name": "phosphatidate phosphatase PAH1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "PAH1",
                    "type": "recommended"
                },
                {
                    "name": "PAH1",
                    "type": "synonym"
                },
                {
                    "name": "PAP1",
                    "type": "synonym"
                },
                {
                    "name": "SMP2",
                    "type": "synonym"
                },
                {
                    "name": "YM8520.14C",
                    "type": "synonym"
                }
            ],
            "record_id": "P32567-1",
            "evidence": [
                {
                    "id": "0061224",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0061224"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "D3ZYB4-1",
            "uniprot_ac": "D3ZYB4",
            "uniprot_id": "D3ZYB4_RAT",
            "refseq_ac": "NP_001101706",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "phosphatidate phosphatase",
                    "type": "recommended"
                },
                {
                    "name": "3.1.3.4",
                    "type": "synonym"
                },
                {
                    "name": "phosphatidate phosphatase LPIN2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Lpin2",
                    "type": "recommended"
                },
                {
                    "name": "Lpin2",
                    "type": "synonym"
                }
            ],
            "record_id": "D3ZYB4-1",
            "evidence": [
                {
                    "id": "0061224",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0061224"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0061224"
}