{
    "disease_id": "DOID:0051039",
    "recommended_name": {
        "id": "DOID:0051039",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0051039",
        "name": "primary autosomal recessive microcephaly 28",
        "description": "A primary autosomal recessive microcephaly that is characterized by reduced head size (down to -8 SD) and variably impaired intellectual development apparent from early childhood and that has_material_basis_in homozygous mutation in the RRP7A gene on chromosome 22q13."
    },
    "synonyms": [
        {
            "id": "MONDO:0030339",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0030339",
            "name": "microcephaly 28, primary, autosomal recessive",
            "description": ""
        },
        {
            "id": "MONDO:0030339",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0030339",
            "name": "MCPH28",
            "description": ""
        },
        {
            "id": "MONDO:0030339",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0030339",
            "name": "microcephaly 28, primary, autosomal recessive",
            "description": ""
        },
        {
            "id": "MIM:619453",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/619453",
            "name": "Microcephaly 28, primary, autosomal recessive",
            "description": "Microcephaly 28, primary, autosomal recessive"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0051039"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0051039",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0051039",
            "categories": []
        },
        {
            "id": "MONDO:0030339",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0030339",
            "categories": []
        },
        {
            "id": "MIM:619453",
            "database": "MIM",
            "url": "https://www.omim.org/entry/619453",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q9D1C9-1",
            "uniprot_ac": "Q9D1C9",
            "uniprot_id": "RRP7A_MOUSE",
            "refseq_ac": "NP_083377",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Ribosomal RNA-processing protein 7 homolog A",
                    "type": "recommended"
                },
                {
                    "name": "Gastric cancer antigen Zg14 homolog",
                    "type": "synonym"
                },
                {
                    "name": "gastric cancer antigen Zg14 homolog",
                    "type": "synonym"
                },
                {
                    "name": "kidney highly expressed protein 1",
                    "type": "synonym"
                },
                {
                    "name": "ribosomal RNA-processing protein 7 homolog A isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "ribosomal RNA-processing protein 7 homolog A",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Rrp7a",
                    "type": "recommended"
                },
                {
                    "name": "1110014J01Rik",
                    "type": "synonym"
                },
                {
                    "name": "Kheg1",
                    "type": "synonym"
                },
                {
                    "name": "Rrp7a",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9D1C9-1",
            "evidence": [
                {
                    "id": "0051039",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0051039"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9Y3A4-1",
            "uniprot_ac": "Q9Y3A4",
            "uniprot_id": "RRP7A_HUMAN",
            "refseq_ac": "NP_056518",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Ribosomal RNA-processing protein 7 homolog A",
                    "type": "recommended"
                },
                {
                    "name": "CTA-126B4.5",
                    "type": "synonym"
                },
                {
                    "name": "Gastric cancer antigen Zg14",
                    "type": "synonym"
                },
                {
                    "name": "gastric cancer antigen Zg14",
                    "type": "synonym"
                },
                {
                    "name": "ribosomal RNA-processing protein 7 homolog A",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "RRP7A",
                    "type": "recommended"
                },
                {
                    "name": "BK126B4.3",
                    "type": "synonym"
                },
                {
                    "name": "CGI-96",
                    "type": "synonym"
                },
                {
                    "name": "MCPH28",
                    "type": "synonym"
                },
                {
                    "name": "RRP7A",
                    "type": "synonym"
                },
                {
                    "name": "Rrp7",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9Y3A4-1",
            "evidence": [
                {
                    "id": "619453",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/619453"
                },
                {
                    "id": "0051039",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0051039"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P25368-1",
            "uniprot_ac": "P25368",
            "uniprot_id": "RRP7_YEAST",
            "refseq_ac": "NP_009899",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Saccharomyces cerevisiae S288C",
                    "taxid": 559292,
                    "common_name": "Baker's yeast",
                    "glygen_name": "Yeast",
                    "reference_species": "Saccharomyces cerevisiae S288C [559292]"
                }
            ],
            "protein_names": [
                {
                    "name": "Ribosomal RNA-processing protein 7",
                    "type": "recommended"
                },
                {
                    "name": "Rrp7p",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "RRP7",
                    "type": "recommended"
                },
                {
                    "name": "RRP7",
                    "type": "synonym"
                },
                {
                    "name": "YCL184",
                    "type": "synonym"
                },
                {
                    "name": "YCL31C",
                    "type": "synonym"
                }
            ],
            "record_id": "P25368-1",
            "evidence": [
                {
                    "id": "0051039",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0051039"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "D4AE65-1",
            "uniprot_ac": "D4AE65",
            "uniprot_id": "D4AE65_RAT",
            "refseq_ac": "NP_001124040",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Ribosomal RNA-processing protein 7 homolog A",
                    "type": "recommended"
                },
                {
                    "name": "gastric cancer antigen Zg14",
                    "type": "synonym"
                },
                {
                    "name": "ribosomal RNA-processing protein 7 homolog A",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Rrp7a",
                    "type": "recommended"
                },
                {
                    "name": "Cgi-96",
                    "type": "synonym"
                },
                {
                    "name": "RGD1311547",
                    "type": "synonym"
                },
                {
                    "name": "Rrp7a",
                    "type": "synonym"
                }
            ],
            "record_id": "D4AE65-1",
            "evidence": [
                {
                    "id": "0051039",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0051039"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9VMJ1-1",
            "uniprot_ac": "Q9VMJ1",
            "uniprot_id": "Q9VMJ1_DROME",
            "refseq_ac": "NP_608981",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Ribosomal RNA-processing protein 7 homolog A",
                    "type": "recommended"
                },
                {
                    "name": "CG9107-PB",
                    "type": "synonym"
                },
                {
                    "name": "uncharacterized protein, isoform B",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Rrp7",
                    "type": "recommended"
                },
                {
                    "name": "CG9107",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG9107",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG9107",
                    "type": "synonym"
                },
                {
                    "name": "RRP7",
                    "type": "synonym"
                },
                {
                    "name": "Rrp7",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9VMJ1-1",
            "evidence": [
                {
                    "id": "0051039",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0051039"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0051039"
}