{
    "disease_id": "DOID:0051040",
    "recommended_name": {
        "id": "DOID:0051040",
        "resource": "Disease Ontology",
        "url": "http://disease-ontology.org/term/DOID:0051040",
        "name": "primary autosomal recessive microcephaly 29",
        "description": "A primary autosomal recessive microcephaly that is characterized by small head circumference apparent at birth and associated with global developmental delay, impaired intellectual development, speech delay, and behavioral abnormalities and that has_material_basis_in homozygous mutation in the PDCD6IP gene on chromosome 3p22."
    },
    "synonyms": [
        {
            "id": "MONDO:0031060",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0031060",
            "name": "microcephaly 29, primary, autosomal recessive",
            "description": ""
        },
        {
            "id": "MONDO:0031060",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0031060",
            "name": "MCPH29",
            "description": ""
        },
        {
            "id": "MONDO:0031060",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0031060",
            "name": "microcephaly 29, primary, autosomal recessive",
            "description": ""
        },
        {
            "id": "MIM:620047",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/620047",
            "name": "Microcephaly 29, primary, autosomal recessive",
            "description": "Microcephaly 29, primary, autosomal recessive"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0051040"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0051040",
            "database": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0051040",
            "categories": []
        },
        {
            "id": "MONDO:0031060",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0031060",
            "categories": []
        },
        {
            "id": "MIM:620047",
            "database": "MIM",
            "url": "https://www.omim.org/entry/620047",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q9VB05-1",
            "uniprot_ac": "Q9VB05",
            "uniprot_id": "Q9VB05_DROME",
            "refseq_ac": "NP_651582",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "ALG-2 interacting protein X",
                    "resource": "RefSeq",
                    "type": "synonym"
                },
                {
                    "name": "ALG-2 interacting protein X",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "CG12876-PA; ALiX-PA; ALG-2 interacting protein 1; apoptosis linked gene 2 interacting X",
                    "resource": "RefSeq",
                    "type": "synonym"
                },
                {
                    "name": "LD25543p",
                    "resource": "UniProtKB",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "ALiX",
                    "resource": "UniProtKB",
                    "type": "recommended"
                },
                {
                    "name": "AIP1",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "ALIX",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "ALiX",
                    "resource": "RefSeq",
                    "type": "synonym"
                },
                {
                    "name": "Aip1; AIP1; alix; Alix; AliX; ALIX; CG12876; DAIP1; Dmel\\CG12876; Snf7",
                    "resource": "RefSeq",
                    "type": "synonym"
                },
                {
                    "name": "Aip1",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "AliX",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "Alix",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "CG12876",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "DAIP1",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG12876",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG12876",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "Snf7",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "alix",
                    "resource": "UniProtKB",
                    "type": "synonym"
                }
            ],
            "evidence": [
                {
                    "id": "0051040",
                    "database": "Alliance of Genome Resources",
                    "url": "https://www.alliancegenome.org/disease/DOID:0051040"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9WU78-1",
            "uniprot_ac": "Q9WU78",
            "uniprot_id": "PDC6I_MOUSE",
            "refseq_ac": "NP_001158149",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Programmed cell death 6-interacting protein",
                    "resource": "UniProtKB",
                    "type": "recommended"
                },
                {
                    "name": "ALG-2-interacting protein 1",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "ALG-2-interacting protein X",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "Alg2-interacting protein X; Alg2-interacting protein 1; E2f1-inducible protein; ALG-2-interacting protein 1; ALG-2-interacting protein X",
                    "resource": "RefSeq",
                    "type": "synonym"
                },
                {
                    "name": "E2F1-inducible protein",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "Eig2",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "programmed cell death 6-interacting protein isoform 1",
                    "resource": "RefSeq",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Pdcd6ip",
                    "resource": "UniProtKB",
                    "type": "recommended"
                },
                {
                    "name": "Aip1; Alix; Eig2; mKIAA1375",
                    "resource": "RefSeq",
                    "type": "synonym"
                },
                {
                    "name": "Aip1",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "Alix",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "Pdcd6ip",
                    "resource": "RefSeq",
                    "type": "synonym"
                }
            ],
            "evidence": [
                {
                    "id": "0051040",
                    "database": "Alliance of Genome Resources",
                    "url": "https://www.alliancegenome.org/disease/DOID:0051040"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q12033-1",
            "uniprot_ac": "Q12033",
            "uniprot_id": "PALA_YEAST",
            "refseq_ac": "NP_014918",
            "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": "pH-response regulator protein palA/RIM20",
                    "resource": "UniProtKB",
                    "type": "recommended"
                },
                {
                    "name": "Regulator of IME2 protein 20",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "Rim20p",
                    "resource": "RefSeq",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "RIM20",
                    "resource": "UniProtKB",
                    "type": "recommended"
                },
                {
                    "name": "RIM20",
                    "resource": "RefSeq",
                    "type": "synonym"
                }
            ],
            "evidence": [
                {
                    "id": "0051040",
                    "database": "Alliance of Genome Resources",
                    "url": "https://www.alliancegenome.org/disease/DOID:0051040"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q8WUM4-1",
            "uniprot_ac": "Q8WUM4",
            "uniprot_id": "PDC6I_HUMAN",
            "refseq_ac": "NP_001155901",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Programmed cell death 6-interacting protein",
                    "resource": "UniProtKB",
                    "type": "recommended"
                },
                {
                    "name": "ALG-2 interacting protein 1; dopamine receptor interacting protein 4; apoptosis-linked gene 2-interacting protein X; PDCD6-interacting protein; ALG-2-interacting protein X",
                    "resource": "RefSeq",
                    "type": "synonym"
                },
                {
                    "name": "ALG-2-interacting protein 1",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "ALG-2-interacting protein X",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "Hp95",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "PDCD6-interacting protein",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "programmed cell death 6-interacting protein isoform 2",
                    "resource": "RefSeq",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "PDCD6IP",
                    "resource": "UniProtKB",
                    "type": "recommended"
                },
                {
                    "name": "AIP1; ALIX; DRIP4; HP95; MCPH29",
                    "resource": "RefSeq",
                    "type": "synonym"
                },
                {
                    "name": "AIP1",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "ALIX",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "KIAA1375",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "PDCD6IP",
                    "resource": "RefSeq",
                    "type": "synonym"
                }
            ],
            "evidence": [
                {
                    "id": "0051040",
                    "database": "Alliance of Genome Resources",
                    "url": "https://www.alliancegenome.org/disease/DOID:0051040"
                },
                {
                    "id": "620047",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/620047"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0A8M2B6D5-1",
            "uniprot_ac": "A0A8M2B6D5",
            "uniprot_id": "A0A8M2B6D5_DANRE",
            "refseq_ac": "XP_005159794",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Programmed cell death 6-interacting protein isoform X1",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "programmed cell death 6-interacting protein isoform X1",
                    "resource": "RefSeq",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "pdcd6ip",
                    "resource": "UniProtKB",
                    "type": "recommended"
                },
                {
                    "name": "pdcd6ip",
                    "resource": "RefSeq",
                    "type": "synonym"
                },
                {
                    "name": "wu:fb70d03; wu:fy65h02; zgc:63638",
                    "resource": "RefSeq",
                    "type": "synonym"
                },
                {
                    "name": "wu:fb70d03",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "wu:fy65h02",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "zgc:63638",
                    "resource": "UniProtKB",
                    "type": "synonym"
                }
            ],
            "evidence": [
                {
                    "id": "0051040",
                    "database": "Alliance of Genome Resources",
                    "url": "https://www.alliancegenome.org/disease/DOID:0051040"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9QZA2-1",
            "uniprot_ac": "Q9QZA2",
            "uniprot_id": "PDC6I_RAT",
            "refseq_ac": "XP_006244059",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Programmed cell death 6-interacting protein",
                    "resource": "UniProtKB",
                    "type": "recommended"
                },
                {
                    "name": "ALG-2-interacting protein 1",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "programmed cell death 6-interacting protein isoform X1",
                    "resource": "RefSeq",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Pdcd6ip",
                    "resource": "UniProtKB",
                    "type": "recommended"
                },
                {
                    "name": "AIP1; Alix; RGD1561176",
                    "resource": "RefSeq",
                    "type": "synonym"
                },
                {
                    "name": "Aip1",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "Pdcd6ip",
                    "resource": "RefSeq",
                    "type": "synonym"
                }
            ],
            "evidence": [
                {
                    "id": "0051040",
                    "database": "Alliance of Genome Resources",
                    "url": "https://www.alliancegenome.org/disease/DOID:0051040"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0051040"
}