{
    "disease_id": "DOID:0060609",
    "recommended_name": {
        "id": "DOID:0060609",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0060609",
        "name": "microcephalic osteodysplastic primordial dwarfism type II",
        "description": "An osteochondrodysplasia that is a form of microcephalic osteodysplastic primordial dwarfism that has_material_basis_in homozygous or compound heterozygous mutation in the PCNT gene, encoding pericentrin, on chromosome 21q22. It is characterized by intrauterine growth retardation, severe proportionate short stature, and microcephaly."
    },
    "synonyms": [
        {
            "id": "DOID:0060609",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060609",
            "name": "osteodysplastic primordial dwarfism type II",
            "description": ""
        },
        {
            "id": "DOID:0060609",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060609",
            "name": "Majewski osteodysplastic primordial dwarfism type II",
            "description": ""
        },
        {
            "id": "MONDO:0008872",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008872",
            "name": "microcephalic osteodysplastic primordial dwarfism type II",
            "description": "A form of microcephalic primordial dwarfism (MPD) characterized by severe pre- and postnatal growth retardation, with marked microcephaly in proportion to body size, skeletal dysplasia, abnormal dentition, insulin resistance, and increased risk for cerebrovascular disease."
        },
        {
            "id": "MONDO:0008872",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008872",
            "name": "MOPD type II",
            "description": ""
        },
        {
            "id": "MONDO:0008872",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008872",
            "name": "Majewski osteodysplastic primordial dwarfism type II",
            "description": ""
        },
        {
            "id": "MONDO:0008872",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008872",
            "name": "MOPD II",
            "description": ""
        },
        {
            "id": "MONDO:0008872",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008872",
            "name": "MOPD2",
            "description": ""
        },
        {
            "id": "MONDO:0008872",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008872",
            "name": "microcephalic osteodysplastic primordial dwarfism type 2",
            "description": ""
        },
        {
            "id": "MONDO:0008872",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008872",
            "name": "microcephalic osteodysplastic primordial dwarfism with tooth abnormalities",
            "description": ""
        },
        {
            "id": "MONDO:0008872",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008872",
            "name": "microcephalic osteodysplastic primordial dwarfism, type II",
            "description": ""
        },
        {
            "id": "MONDO:0008872",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008872",
            "name": "osteodysplastic primordial dwarfism type 2",
            "description": ""
        },
        {
            "id": "MIM:210720",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/210720",
            "name": "Microcephalic osteodysplastic primordial dwarfism 2",
            "description": "Microcephalic osteodysplastic primordial dwarfism 2"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0060609"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0060609",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060609",
            "categories": []
        },
        {
            "id": "MONDO:0008872",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008872",
            "categories": []
        },
        {
            "id": "MIM:210720",
            "database": "MIM",
            "url": "https://www.omim.org/entry/210720",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0AC58JQD6-1",
            "uniprot_ac": "A0AC58JQD6",
            "uniprot_id": "A0AC58JQD6_DANRE",
            "refseq_ac": "XP_073808699",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Pericentrin isoform X1",
                    "type": "synonym"
                },
                {
                    "name": "pericentrin isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "pcnt",
                    "type": "recommended"
                },
                {
                    "name": "fc85c01",
                    "type": "synonym"
                },
                {
                    "name": "pcnt",
                    "type": "synonym"
                },
                {
                    "name": "sb:cb754",
                    "type": "synonym"
                },
                {
                    "name": "si:ch211-245b3.1",
                    "type": "synonym"
                },
                {
                    "name": "wu:fc85c01",
                    "type": "synonym"
                }
            ],
            "record_id": "A0AC58JQD6-1",
            "evidence": [
                {
                    "id": "0060609",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060609"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P48725-1",
            "uniprot_ac": "P48725",
            "uniprot_id": "PCNT_MOUSE",
            "refseq_ac": "NP_001269921",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Pericentrin",
                    "type": "recommended"
                },
                {
                    "name": "pericentrin 2",
                    "type": "synonym"
                },
                {
                    "name": "pericentrin isoform b",
                    "type": "synonym"
                },
                {
                    "name": "pericentrin-250",
                    "type": "synonym"
                },
                {
                    "name": "pericentrin-360",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Pcnt",
                    "type": "recommended"
                },
                {
                    "name": "KEN",
                    "type": "synonym"
                },
                {
                    "name": "Pcnt2",
                    "type": "synonym"
                },
                {
                    "name": "Pcnt",
                    "type": "synonym"
                },
                {
                    "name": "kendrin",
                    "type": "synonym"
                },
                {
                    "name": "m239Asp",
                    "type": "synonym"
                },
                {
                    "name": "m275Asp",
                    "type": "synonym"
                }
            ],
            "record_id": "P48725-1",
            "evidence": [
                {
                    "id": "0060609",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060609"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "O95613-1",
            "uniprot_ac": "O95613",
            "uniprot_id": "PCNT_HUMAN",
            "refseq_ac": "NP_001302458",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Pericentrin",
                    "type": "recommended"
                },
                {
                    "name": "Kendrin",
                    "type": "synonym"
                },
                {
                    "name": "Pericentrin-B",
                    "type": "synonym"
                },
                {
                    "name": "kendrin",
                    "type": "synonym"
                },
                {
                    "name": "pericentrin isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "pericentrin-2",
                    "type": "synonym"
                },
                {
                    "name": "pericentrin-380",
                    "type": "synonym"
                },
                {
                    "name": "pericentrin-B",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "PCNT",
                    "type": "recommended"
                },
                {
                    "name": "KEN",
                    "type": "synonym"
                },
                {
                    "name": "KIAA0402",
                    "type": "synonym"
                },
                {
                    "name": "MOPD2",
                    "type": "synonym"
                },
                {
                    "name": "PCNT2",
                    "type": "synonym"
                },
                {
                    "name": "PCNTB",
                    "type": "synonym"
                },
                {
                    "name": "PCNT",
                    "type": "synonym"
                },
                {
                    "name": "PCN",
                    "type": "synonym"
                },
                {
                    "name": "PCTN2",
                    "type": "synonym"
                },
                {
                    "name": "SCKL4",
                    "type": "synonym"
                }
            ],
            "record_id": "O95613-1",
            "evidence": [
                {
                    "id": "210720",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/210720"
                },
                {
                    "id": "0060609",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060609"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0ABK0LT86-1",
            "uniprot_ac": "A0ABK0LT86",
            "uniprot_id": "A0ABK0LT86_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": "Pericentrin",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Pcnt",
                    "type": "recommended"
                },
                {
                    "name": "LOC309692",
                    "type": "synonym"
                }
            ],
            "record_id": "A0ABK0LT86-1",
            "evidence": [
                {
                    "id": "0060609",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060609"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q400N2-1",
            "uniprot_ac": "Q400N2",
            "uniprot_id": "Q400N2_DROME",
            "refseq_ac": "NP_001027574",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "CG33957-PF",
                    "type": "synonym"
                },
                {
                    "name": "Pericentrin-like protein, isoform F",
                    "type": "synonym"
                },
                {
                    "name": "Plp-PF",
                    "type": "synonym"
                },
                {
                    "name": "cp309",
                    "type": "synonym"
                },
                {
                    "name": "drosophila pericentrin like protein",
                    "type": "synonym"
                },
                {
                    "name": "lethal (3) s2172",
                    "type": "synonym"
                },
                {
                    "name": "pericentrin-like protein",
                    "type": "synonym"
                },
                {
                    "name": "pericentrin-like-protein",
                    "type": "synonym"
                },
                {
                    "name": "pericentrin/AKAP450 centrosomal targeting",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Plp",
                    "type": "recommended"
                },
                {
                    "name": "AKAP450",
                    "type": "synonym"
                },
                {
                    "name": "CG13459",
                    "type": "synonym"
                },
                {
                    "name": "CG18648",
                    "type": "synonym"
                },
                {
                    "name": "CG33957",
                    "type": "synonym"
                },
                {
                    "name": "CG6735",
                    "type": "synonym"
                },
                {
                    "name": "CP309",
                    "type": "synonym"
                },
                {
                    "name": "Cp309",
                    "type": "synonym"
                },
                {
                    "name": "D-PLP",
                    "type": "synonym"
                },
                {
                    "name": "D-Plp",
                    "type": "synonym"
                },
                {
                    "name": "DPLP",
                    "type": "synonym"
                },
                {
                    "name": "DPlp",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG33957",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG33957",
                    "type": "synonym"
                },
                {
                    "name": "Dplp",
                    "type": "synonym"
                },
                {
                    "name": "PACT",
                    "type": "synonym"
                },
                {
                    "name": "PCNT",
                    "type": "synonym"
                },
                {
                    "name": "PLP",
                    "type": "synonym"
                },
                {
                    "name": "Pact",
                    "type": "synonym"
                },
                {
                    "name": "Plp",
                    "type": "synonym"
                },
                {
                    "name": "cp309",
                    "type": "synonym"
                },
                {
                    "name": "d-plp",
                    "type": "synonym"
                },
                {
                    "name": "dPLP",
                    "type": "synonym"
                },
                {
                    "name": "dplp",
                    "type": "synonym"
                },
                {
                    "name": "l(3)s2172",
                    "type": "synonym"
                },
                {
                    "name": "pPlp",
                    "type": "synonym"
                },
                {
                    "name": "plp",
                    "type": "synonym"
                }
            ],
            "record_id": "Q400N2-1",
            "evidence": [
                {
                    "id": "0060609",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060609"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0060609"
}