{
    "disease_id": "DOID:0110945",
    "recommended_name": {
        "id": "DOID:0110945",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0110945",
        "name": "autosomal recessive osteopetrosis 6",
        "description": "An osteopetrosis characterized by autosomal recessive inheritance of that has_material_basis_in mutation in the PLEKHM1 gene on chromosome 17q21.31."
    },
    "synonyms": [
        {
            "id": "DOID:0110945",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110945",
            "name": "autosomal recessive osteopetrosis intermediate form",
            "description": ""
        },
        {
            "id": "DOID:0110945",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110945",
            "name": "OPTB6",
            "description": ""
        },
        {
            "id": "MONDO:0012679",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012679",
            "name": "autosomal recessive osteopetrosis 6",
            "description": "Any autosomal recessive malignant osteopetrosis in which the cause of the disease is a mutation in the PLEKHM1 gene."
        },
        {
            "id": "MONDO:0012679",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012679",
            "name": "OPTB6",
            "description": ""
        },
        {
            "id": "MONDO:0012679",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012679",
            "name": "PLEKHM1 osteopetrosis (disease)",
            "description": ""
        },
        {
            "id": "MONDO:0012679",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012679",
            "name": "autosomal recessive intermediate osteopetrosis",
            "description": ""
        },
        {
            "id": "MONDO:0012679",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012679",
            "name": "autosomal recessive osteopetrosis type 6",
            "description": ""
        },
        {
            "id": "MONDO:0012679",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012679",
            "name": "osteopetrosis (disease) caused by mutation in PLEKHM1",
            "description": ""
        },
        {
            "id": "MONDO:0012679",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012679",
            "name": "osteopetrosis, autosomal recessive type 6",
            "description": ""
        },
        {
            "id": "MONDO:0012679",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012679",
            "name": "osteopetrosis autosomal recessive 6",
            "description": ""
        },
        {
            "id": "MONDO:0012679",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012679",
            "name": "osteopetrosis autosomal recessive intermediate form",
            "description": ""
        },
        {
            "id": "MONDO:0012679",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012679",
            "name": "osteopetrosis, autosomal recessive 6",
            "description": ""
        },
        {
            "id": "MIM:611497",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/611497",
            "name": "Osteopetrosis, autosomal recessive 6",
            "description": "Osteopetrosis, autosomal recessive 6"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0110945"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0110945",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110945",
            "categories": []
        },
        {
            "id": "MONDO:0012679",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012679",
            "categories": []
        },
        {
            "id": "MIM:611497",
            "database": "MIM",
            "url": "https://www.omim.org/entry/611497",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0A8M9Q8H1-1",
            "uniprot_ac": "A0A8M9Q8H1",
            "uniprot_id": "A0A8M9Q8H1_DANRE",
            "refseq_ac": "NP_001314780",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Pleckstrin homology domain-containing family M member 1 isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "pleckstrin homology domain-containing family M member 1 isoform 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "plekhm1",
                    "type": "recommended"
                },
                {
                    "name": "plekhm1",
                    "type": "synonym"
                },
                {
                    "name": "wu:fc17c08",
                    "type": "synonym"
                },
                {
                    "name": "wu:fc23c01",
                    "type": "synonym"
                },
                {
                    "name": "wu:fc29h10",
                    "type": "synonym"
                },
                {
                    "name": "zgc:158281",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8M9Q8H1-1",
            "evidence": [
                {
                    "id": "0110945",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110945"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q7TSI1-1",
            "uniprot_ac": "Q7TSI1",
            "uniprot_id": "PKHM1_MOUSE",
            "refseq_ac": "NP_898855",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Pleckstrin homology domain-containing family M member 1",
                    "type": "recommended"
                },
                {
                    "name": "PH domain-containing family M member 1",
                    "type": "synonym"
                },
                {
                    "name": "pleckstrin homology domain-containing family M member 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Plekhm1",
                    "type": "recommended"
                },
                {
                    "name": "AP162",
                    "type": "synonym"
                },
                {
                    "name": "B2",
                    "type": "synonym"
                },
                {
                    "name": "D330036J23Rik",
                    "type": "synonym"
                },
                {
                    "name": "Plekhm1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q7TSI1-1",
            "evidence": [
                {
                    "id": "0110945",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110945"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9Y4G2-1",
            "uniprot_ac": "Q9Y4G2",
            "uniprot_id": "PKHM1_HUMAN",
            "refseq_ac": "NP_055613",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Pleckstrin homology domain-containing family M member 1",
                    "type": "recommended"
                },
                {
                    "name": "162 kDa adapter protein",
                    "type": "synonym"
                },
                {
                    "name": "AP162",
                    "type": "synonym"
                },
                {
                    "name": "PH domain-containing family M member 1",
                    "type": "synonym"
                },
                {
                    "name": "pleckstrin homology domain containing, family M (with RUN domain) member 1",
                    "type": "synonym"
                },
                {
                    "name": "pleckstrin homology domain-containing family M member 1 isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "pleckstrin homology domain-containing family M member 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "PLEKHM1",
                    "type": "recommended"
                },
                {
                    "name": "AP162",
                    "type": "synonym"
                },
                {
                    "name": "B2",
                    "type": "synonym"
                },
                {
                    "name": "KIAA0356",
                    "type": "synonym"
                },
                {
                    "name": "OPTA3",
                    "type": "synonym"
                },
                {
                    "name": "OPTB6",
                    "type": "synonym"
                },
                {
                    "name": "PLEKHM1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9Y4G2-1",
            "evidence": [
                {
                    "id": "611497",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/611497"
                },
                {
                    "id": "0110945",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110945"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q5PQS0-1",
            "uniprot_ac": "Q5PQS0",
            "uniprot_id": "PKHM1_RAT",
            "refseq_ac": "NP_001009677",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Pleckstrin homology domain-containing family M member 1",
                    "type": "recommended"
                },
                {
                    "name": "PH domain-containing family M member 1",
                    "type": "synonym"
                },
                {
                    "name": "pleckstrin homology domain containing, family M (with RUN domain) member 1",
                    "type": "synonym"
                },
                {
                    "name": "pleckstrin homology domain-containing family M member 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Plekhm1",
                    "type": "recommended"
                },
                {
                    "name": "Plekhm1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q5PQS0-1",
            "evidence": [
                {
                    "id": "0110945",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110945"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9W293-1",
            "uniprot_ac": "Q9W293",
            "uniprot_id": "Q9W293_DROME",
            "refseq_ac": "NP_611639",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "CG6613-PA",
                    "type": "synonym"
                },
                {
                    "name": "Pleckstrin homology and RUN domain containing M1",
                    "type": "synonym"
                },
                {
                    "name": "Plekhm1-PA",
                    "type": "synonym"
                },
                {
                    "name": "pleckstrin homology and RUN domain containing M1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Plekhm1",
                    "type": "recommended"
                },
                {
                    "name": "CG6613",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG6613",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG6613",
                    "type": "synonym"
                },
                {
                    "name": "Plekhm1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9W293-1",
            "evidence": [
                {
                    "id": "0110945",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110945"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0110945"
}