{
    "disease_id": "DOID:0070287",
    "recommended_name": {
        "id": "DOID:0070287",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0070287",
        "name": "primary autosomal recessive microcephaly 11",
        "description": "A primary autosomal recessive microcephaly that has_material_basis_in homozygous or compound heterozygous mutation in the PHC1 gene on chromosome 12p13."
    },
    "synonyms": [
        {
            "id": "DOID:0070287",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070287",
            "name": "MCPH11",
            "description": ""
        },
        {
            "id": "MONDO:0014173",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014173",
            "name": "microcephaly 11, primary, autosomal recessive",
            "description": "Any autosomal recessive primary microcephaly in which the cause of the disease is a mutation in the PHC1 gene."
        },
        {
            "id": "MONDO:0014173",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014173",
            "name": "PHC1 autosomal recessive primary microcephaly",
            "description": ""
        },
        {
            "id": "MONDO:0014173",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014173",
            "name": "autosomal recessive primary microcephaly caused by mutation in PHC1",
            "description": ""
        },
        {
            "id": "MONDO:0014173",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014173",
            "name": "microcephaly 11, primary, autosomal recessive",
            "description": ""
        },
        {
            "id": "MONDO:0014173",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014173",
            "name": "MCPH11",
            "description": ""
        },
        {
            "id": "MIM:615414",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/615414",
            "name": "Microcephaly 11, primary, autosomal recessive",
            "description": "Microcephaly 11, primary, autosomal recessive"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0070287"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0070287",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070287",
            "categories": []
        },
        {
            "id": "MONDO:0014173",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014173",
            "categories": []
        },
        {
            "id": "MIM:615414",
            "database": "MIM",
            "url": "https://www.omim.org/entry/615414",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q64028-1",
            "uniprot_ac": "Q64028",
            "uniprot_id": "PHC1_MOUSE",
            "refseq_ac": "NP_001258508",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Polyhomeotic-like protein 1",
                    "type": "recommended"
                },
                {
                    "name": "Early development regulatory protein 1",
                    "type": "synonym"
                },
                {
                    "name": "RAE-28",
                    "type": "synonym"
                },
                {
                    "name": "early development regulator1 (homolog of polyhomeotic 1)",
                    "type": "synonym"
                },
                {
                    "name": "early development regulatory protein 1",
                    "type": "synonym"
                },
                {
                    "name": "mPH1",
                    "type": "synonym"
                },
                {
                    "name": "polyhomeotic-like 1",
                    "type": "synonym"
                },
                {
                    "name": "polyhomeotic-like protein 1 isoform a",
                    "type": "synonym"
                },
                {
                    "name": "polyhomeotic-like protein 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Phc1",
                    "type": "recommended"
                },
                {
                    "name": "Edr1",
                    "type": "synonym"
                },
                {
                    "name": "Edr",
                    "type": "synonym"
                },
                {
                    "name": "Mph1",
                    "type": "synonym"
                },
                {
                    "name": "Phc1",
                    "type": "synonym"
                },
                {
                    "name": "Rae-28",
                    "type": "synonym"
                },
                {
                    "name": "Rae28",
                    "type": "synonym"
                },
                {
                    "name": "rae28",
                    "type": "synonym"
                }
            ],
            "record_id": "Q64028-1",
            "evidence": [
                {
                    "id": "0070287",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070287"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P78364-1",
            "uniprot_ac": "P78364",
            "uniprot_id": "PHC1_HUMAN",
            "refseq_ac": "NP_004417",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Polyhomeotic-like protein 1",
                    "type": "recommended"
                },
                {
                    "name": "Early development regulatory protein 1",
                    "type": "synonym"
                },
                {
                    "name": "early development regulator 1 (homolog of polyhomeotic 1)",
                    "type": "synonym"
                },
                {
                    "name": "early development regulatory protein 1",
                    "type": "synonym"
                },
                {
                    "name": "hPH1",
                    "type": "synonym"
                },
                {
                    "name": "polyhomeotic-like 1",
                    "type": "synonym"
                },
                {
                    "name": "polyhomeotic-like protein 1 isoform a",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "PHC1",
                    "type": "recommended"
                },
                {
                    "name": "EDR1",
                    "type": "synonym"
                },
                {
                    "name": "HPH1",
                    "type": "synonym"
                },
                {
                    "name": "MCPH11",
                    "type": "synonym"
                },
                {
                    "name": "PH1",
                    "type": "synonym"
                },
                {
                    "name": "PHC1",
                    "type": "synonym"
                },
                {
                    "name": "RAE28",
                    "type": "synonym"
                }
            ],
            "record_id": "P78364-1",
            "evidence": [
                {
                    "id": "615414",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/615414"
                },
                {
                    "id": "0070287",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070287"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0A8I6AHM8-1",
            "uniprot_ac": "A0A8I6AHM8",
            "uniprot_id": "A0A8I6AHM8_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": "Polyhomeotic homolog 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Phc1",
                    "type": "recommended"
                }
            ],
            "record_id": "A0A8I6AHM8-1",
            "evidence": [
                {
                    "id": "0070287",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070287"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P39769-1",
            "uniprot_ac": "P39769",
            "uniprot_id": "PHP_DROME",
            "refseq_ac": "NP_476871",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Polyhomeotic-proximal chromatin protein",
                    "type": "recommended"
                },
                {
                    "name": "CG18412-PA",
                    "type": "synonym"
                },
                {
                    "name": "Polyhomeotic-proximal",
                    "type": "synonym"
                },
                {
                    "name": "ph-p-PA",
                    "type": "synonym"
                },
                {
                    "name": "ph-proximal",
                    "type": "synonym"
                },
                {
                    "name": "polyhomeotic proximal, isoform A",
                    "type": "synonym"
                },
                {
                    "name": "polyhomeotic proximal",
                    "type": "synonym"
                },
                {
                    "name": "polyhomeotic proxima",
                    "type": "synonym"
                },
                {
                    "name": "polyhomeotic",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "ph-p",
                    "type": "recommended"
                },
                {
                    "name": "CG18412",
                    "type": "synonym"
                },
                {
                    "name": "CG18414",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG18412",
                    "type": "synonym"
                },
                {
                    "name": "EG:87B1.5",
                    "type": "synonym"
                },
                {
                    "name": "PH-p",
                    "type": "synonym"
                },
                {
                    "name": "PHP",
                    "type": "synonym"
                },
                {
                    "name": "PH",
                    "type": "synonym"
                },
                {
                    "name": "Ph-p",
                    "type": "synonym"
                },
                {
                    "name": "PhP",
                    "type": "synonym"
                },
                {
                    "name": "Ph",
                    "type": "synonym"
                },
                {
                    "name": "dPh",
                    "type": "synonym"
                },
                {
                    "name": "ph-P",
                    "type": "synonym"
                },
                {
                    "name": "ph-proximal",
                    "type": "synonym"
                },
                {
                    "name": "ph-p",
                    "type": "synonym"
                },
                {
                    "name": "ph[P]",
                    "type": "synonym"
                },
                {
                    "name": "ph[p]",
                    "type": "synonym"
                },
                {
                    "name": "phm",
                    "type": "synonym"
                },
                {
                    "name": "php",
                    "type": "synonym"
                },
                {
                    "name": "ph",
                    "type": "synonym"
                }
            ],
            "record_id": "P39769-1",
            "evidence": [
                {
                    "id": "0070287",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070287"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9W523-1",
            "uniprot_ac": "Q9W523",
            "uniprot_id": "Q9W523_DROME",
            "refseq_ac": "NP_524794",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "CG3895-PA",
                    "type": "synonym"
                },
                {
                    "name": "Polyhomeotic distal, isoform A",
                    "type": "synonym"
                },
                {
                    "name": "ph-d-PA",
                    "type": "synonym"
                },
                {
                    "name": "polyhomeotic distal, isoform A",
                    "type": "synonym"
                },
                {
                    "name": "polyhomeotic proximal",
                    "type": "synonym"
                },
                {
                    "name": "polyhomeotic-distal",
                    "type": "synonym"
                },
                {
                    "name": "polyhomeotic",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "ph-d",
                    "type": "recommended"
                },
                {
                    "name": "CG3895",
                    "type": "synonym"
                },
                {
                    "name": "DROZFP",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG3895",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG3895",
                    "type": "synonym"
                },
                {
                    "name": "EG:BACN25G24.3",
                    "type": "synonym"
                },
                {
                    "name": "PH-d",
                    "type": "synonym"
                },
                {
                    "name": "PHD",
                    "type": "synonym"
                },
                {
                    "name": "PH",
                    "type": "synonym"
                },
                {
                    "name": "Ph-d",
                    "type": "synonym"
                },
                {
                    "name": "PhD",
                    "type": "synonym"
                },
                {
                    "name": "Ph",
                    "type": "synonym"
                },
                {
                    "name": "ph-D",
                    "type": "synonym"
                },
                {
                    "name": "ph-d",
                    "type": "synonym"
                },
                {
                    "name": "ph[D]",
                    "type": "synonym"
                },
                {
                    "name": "ph[d]",
                    "type": "synonym"
                },
                {
                    "name": "phd",
                    "type": "synonym"
                },
                {
                    "name": "phm",
                    "type": "synonym"
                },
                {
                    "name": "ph",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9W523-1",
            "evidence": [
                {
                    "id": "0070287",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070287"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0070287"
}