{
    "disease_id": "DOID:0050949",
    "recommended_name": {
        "id": "DOID:0050949",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0050949",
        "name": "autosomal recessive hypophosphatemic rickets",
        "description": "A rickets that has_material_basis_in autosomal recessive inheritance mutation in the DMP1 gene and is characterized by hypophosphatemia, rickets and/or osteomalacia and slow growth."
    },
    "synonyms": [
        {
            "id": "MONDO:0009430",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009430",
            "name": "hypophosphatemic rickets, autosomal recessive, 1",
            "description": "Any autosomal recessive hypophosphatemic rickets in which the cause of the disease is a mutation in the DMP1 gene."
        },
        {
            "id": "MONDO:0009430",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009430",
            "name": "DMP1 autosomal recessive hypophosphatemic rickets",
            "description": ""
        },
        {
            "id": "MONDO:0009430",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009430",
            "name": "autosomal recessive hypophosphatemic rickets caused by mutation in DMP1",
            "description": ""
        },
        {
            "id": "MONDO:0009430",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009430",
            "name": "hypophosphatemic rickets, AR",
            "description": ""
        },
        {
            "id": "MONDO:0009430",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009430",
            "name": "hypophosphatemic rickets, autosomal recessive, 1",
            "description": ""
        },
        {
            "id": "MONDO:0009430",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009430",
            "name": "hypophosphatemic rickets, autosomal recessive, type 1",
            "description": ""
        },
        {
            "id": "MONDO:0009430",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009430",
            "name": "ARHR1",
            "description": ""
        },
        {
            "id": "MONDO:0013219",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013219",
            "name": "hypophosphatemic rickets, autosomal recessive, 2",
            "description": "Any autosomal recessive hypophosphatemic rickets in which the cause of the disease is a mutation in the ENPP1 gene."
        },
        {
            "id": "MONDO:0013219",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013219",
            "name": "Autosomal Recessive Hypophosphatemic Rickets Type 2",
            "description": ""
        },
        {
            "id": "MONDO:0013219",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013219",
            "name": "ENPP1 autosomal recessive hypophosphatemic rickets",
            "description": ""
        },
        {
            "id": "MONDO:0013219",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013219",
            "name": "autosomal recessive hypophosphatemic rickets caused by mutation in ENPP1",
            "description": ""
        },
        {
            "id": "MONDO:0013219",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013219",
            "name": "hypophosphatemic rickets, autosomal recessive, 2",
            "description": ""
        },
        {
            "id": "MONDO:0013219",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013219",
            "name": "hypophosphatemic rickets, autosomal recessive, type 2",
            "description": ""
        },
        {
            "id": "MONDO:0013219",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013219",
            "name": "ARHR2",
            "description": ""
        },
        {
            "id": "MIM:241520",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/241520",
            "name": "Hypophosphatemic rickets, autosomal recessive, 1",
            "description": "Hypophosphatemic rickets, autosomal recessive, 1"
        },
        {
            "id": "MIM:613312",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/613312",
            "name": "Hypophosphatemic rickets, autosomal recessive, 2",
            "description": "Hypophosphatemic rickets, autosomal recessive, 2"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0050949"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0050949",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0050949",
            "categories": []
        },
        {
            "id": "MONDO:0009430",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009430",
            "categories": []
        },
        {
            "id": "MONDO:0013219",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013219",
            "categories": []
        },
        {
            "id": "MIM:241520",
            "database": "MIM",
            "url": "https://www.omim.org/entry/241520",
            "categories": []
        },
        {
            "id": "MIM:613312",
            "database": "MIM",
            "url": "https://www.omim.org/entry/613312",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "O55188-1",
            "uniprot_ac": "O55188",
            "uniprot_id": "DMP1_MOUSE",
            "refseq_ac": "NP_058059",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Dentin matrix acidic phosphoprotein 1",
                    "type": "recommended"
                },
                {
                    "name": "AG1",
                    "type": "synonym"
                },
                {
                    "name": "DMP-1",
                    "type": "synonym"
                },
                {
                    "name": "Dentin matrix protein 1",
                    "type": "synonym"
                },
                {
                    "name": "dentin matrix acidic phosphoprotein 1 precursor",
                    "type": "synonym"
                },
                {
                    "name": "dentin matrix acidic phosphoprotein 1",
                    "type": "synonym"
                },
                {
                    "name": "serine rich acidic phosphoprotein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Dmp1",
                    "type": "recommended"
                },
                {
                    "name": "AG1",
                    "type": "synonym"
                },
                {
                    "name": "DMP-1",
                    "type": "synonym"
                },
                {
                    "name": "Dmp1",
                    "type": "synonym"
                },
                {
                    "name": "Dmp",
                    "type": "synonym"
                },
                {
                    "name": "PP",
                    "type": "synonym"
                }
            ],
            "record_id": "O55188-1",
            "evidence": [
                {
                    "id": "0050949",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050949"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q13316-1",
            "uniprot_ac": "Q13316",
            "uniprot_id": "DMP1_HUMAN",
            "refseq_ac": "NP_001073380",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Dentin matrix acidic phosphoprotein 1",
                    "type": "recommended"
                },
                {
                    "name": "DMP-1",
                    "type": "synonym"
                },
                {
                    "name": "Dentin matrix protein 1",
                    "type": "synonym"
                },
                {
                    "name": "dentin matrix acidic phosphoprotein 1 isoform 2 precursor",
                    "type": "synonym"
                },
                {
                    "name": "dentin matrix protein 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "DMP1",
                    "type": "recommended"
                },
                {
                    "name": "ARHP",
                    "type": "synonym"
                },
                {
                    "name": "ARHR",
                    "type": "synonym"
                },
                {
                    "name": "DMP-1",
                    "type": "synonym"
                },
                {
                    "name": "DMP1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q13316-1",
            "evidence": [
                {
                    "id": "241520",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/241520"
                },
                {
                    "id": "0050949",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050949"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P22413-1",
            "uniprot_ac": "P22413",
            "uniprot_id": "ENPP1_HUMAN",
            "refseq_ac": "NP_006199",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Ectonucleotide pyrophosphatase/phosphodiesterase family member 1",
                    "type": "recommended"
                },
                {
                    "name": "3.1.4.1",
                    "type": "synonym"
                },
                {
                    "name": "3.6.1.9",
                    "type": "synonym"
                },
                {
                    "name": "Alkaline phosphodiesterase I",
                    "type": "synonym"
                },
                {
                    "name": "E-NPP 1",
                    "type": "synonym"
                },
                {
                    "name": "Ly-41 antigen",
                    "type": "synonym"
                },
                {
                    "name": "Membrane component chromosome 6 surface marker 1",
                    "type": "synonym"
                },
                {
                    "name": "NPPase",
                    "type": "synonym"
                },
                {
                    "name": "Nucleotide diphosphatase",
                    "type": "synonym"
                },
                {
                    "name": "Nucleotide pyrophosphatase",
                    "type": "synonym"
                },
                {
                    "name": "Phosphodiesterase I/nucleotide pyrophosphatase 1",
                    "type": "synonym"
                },
                {
                    "name": "Plasma-cell membrane glycoprotein PC-1",
                    "type": "synonym"
                },
                {
                    "name": "alkaline phosphodiesterase 1",
                    "type": "synonym"
                },
                {
                    "name": "alkaline phosphodiesterase I",
                    "type": "synonym"
                },
                {
                    "name": "ectonucleotide pyrophosphatase/phosphodiesterase family member 1",
                    "type": "synonym"
                },
                {
                    "name": "membrane component, chromosome 6, surface marker 1",
                    "type": "synonym"
                },
                {
                    "name": "nucleotide diphosphatase",
                    "type": "synonym"
                },
                {
                    "name": "phosphodiesterase I/nucleotide pyrophosphatase 1",
                    "type": "synonym"
                },
                {
                    "name": "plasma-cell membrane glycoprotein 1",
                    "type": "synonym"
                },
                {
                    "name": "plasma-cell membrane glycoprotein PC-1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "ENPP1",
                    "type": "recommended"
                },
                {
                    "name": "ARHR2",
                    "type": "synonym"
                },
                {
                    "name": "COLED",
                    "type": "synonym"
                },
                {
                    "name": "ENPP1",
                    "type": "synonym"
                },
                {
                    "name": "M6S1",
                    "type": "synonym"
                },
                {
                    "name": "NPP1",
                    "type": "synonym"
                },
                {
                    "name": "NPPS",
                    "type": "synonym"
                },
                {
                    "name": "PC-1",
                    "type": "synonym"
                },
                {
                    "name": "PC1",
                    "type": "synonym"
                },
                {
                    "name": "PCA1",
                    "type": "synonym"
                },
                {
                    "name": "PDNP1",
                    "type": "synonym"
                }
            ],
            "record_id": "P22413-1",
            "evidence": [
                {
                    "id": "613312",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/613312"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P98193-1",
            "uniprot_ac": "P98193",
            "uniprot_id": "DMP1_RAT",
            "refseq_ac": "",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Dentin matrix acidic phosphoprotein 1",
                    "type": "recommended"
                },
                {
                    "name": "AG1",
                    "type": "synonym"
                },
                {
                    "name": "DMP-1",
                    "type": "synonym"
                },
                {
                    "name": "Dentin matrix protein 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Dmp1",
                    "type": "recommended"
                }
            ],
            "record_id": "P98193-1",
            "evidence": [
                {
                    "id": "0050949",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050949"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P42335-1",
            "uniprot_ac": "P42335",
            "uniprot_id": "IP3KB_RAT",
            "refseq_ac": "NP_062185",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Inositol-trisphosphate 3-kinase B",
                    "type": "recommended"
                },
                {
                    "name": "2.7.1.127",
                    "type": "synonym"
                },
                {
                    "name": "IP3 3-kinase B",
                    "type": "synonym"
                },
                {
                    "name": "IP3K B",
                    "type": "synonym"
                },
                {
                    "name": "IP3K-B",
                    "type": "synonym"
                },
                {
                    "name": "Inositol 1,4,5-trisphosphate 3-kinase B",
                    "type": "synonym"
                },
                {
                    "name": "InsP 3-kinase B",
                    "type": "synonym"
                },
                {
                    "name": "inositol 1,4,5-trisphosphate 3-kinase B",
                    "type": "synonym"
                },
                {
                    "name": "inositol-trisphosphate 3-kinase B",
                    "type": "synonym"
                },
                {
                    "name": "insP 3-kinase B",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Itpkb",
                    "type": "recommended"
                },
                {
                    "name": "IP3K B",
                    "type": "synonym"
                },
                {
                    "name": "Itpkb",
                    "type": "synonym"
                }
            ],
            "record_id": "P42335-1",
            "evidence": [
                {
                    "id": "0050949",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050949"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0050949"
}