{
    "disease_id": "DOID:0051037",
    "recommended_name": {
        "id": "DOID:0051037",
        "resource": "Disease Ontology",
        "url": "http://disease-ontology.org/term/DOID:0051037",
        "name": "autosomal dominant primary microcephaly 26",
        "description": "A primary microcephaly that is characterized by progressive microcephaly beginning at birth and associated with global developmental delay with variably impaired intellectual development and that has_material_basis_in heterozygous mutation in the LMNB1 gene on chromosome 5q23."
    },
    "synonyms": [
        {
            "id": "MONDO:0030928",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0030928",
            "name": "microcephaly 26, primary, autosomal dominant",
            "description": ""
        },
        {
            "id": "MONDO:0030928",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0030928",
            "name": "MCPH26",
            "description": ""
        },
        {
            "id": "MONDO:0030928",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0030928",
            "name": "microcephaly 26, primary, autosomal dominant",
            "description": ""
        },
        {
            "id": "MIM:619179",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/619179",
            "name": "Microcephaly 26, primary, autosomal dominant",
            "description": "Microcephaly 26, primary, autosomal dominant"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0051037"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0051037",
            "database": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0051037",
            "categories": []
        },
        {
            "id": "MONDO:0030928",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0030928",
            "categories": []
        },
        {
            "id": "MIM:619179",
            "database": "MIM",
            "url": "https://www.omim.org/entry/619179",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q03427-1",
            "uniprot_ac": "Q03427",
            "uniprot_id": "LAMC_DROME",
            "refseq_ac": "NP_523742",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Lamin-C",
                    "resource": "UniProtKB",
                    "type": "recommended"
                },
                {
                    "name": "CG10119-PA; LamC-PA; lamin DmC; lamin A; LaminC; lamin C; G intermediate filament; Lamin-C",
                    "resource": "RefSeq",
                    "type": "synonym"
                },
                {
                    "name": "lamin C, isoform A",
                    "resource": "RefSeq",
                    "type": "synonym"
                },
                {
                    "name": "pG-IF",
                    "resource": "UniProtKB",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "LamC",
                    "resource": "UniProtKB",
                    "type": "recommended"
                },
                {
                    "name": "CG10119; DmC; Dmel\\CG10119; G-IF; lamC; LAMC; lamin C; pG-IF",
                    "resource": "RefSeq",
                    "type": "synonym"
                },
                {
                    "name": "CG10119",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "DmC",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG10119",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG10119",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "G-IF",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "LAMC",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "LamC",
                    "resource": "RefSeq",
                    "type": "synonym"
                },
                {
                    "name": "lamC",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "lamin C",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "pG-IF",
                    "resource": "UniProtKB",
                    "type": "synonym"
                }
            ],
            "evidence": [
                {
                    "id": "0051037",
                    "database": "Alliance of Genome Resources",
                    "url": "https://www.alliancegenome.org/disease/DOID:0051037"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P08928-1",
            "uniprot_ac": "P08928",
            "uniprot_id": "LAM0_DROME",
            "refseq_ac": "NP_001245892",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Lamin Dm0",
                    "resource": "UniProtKB",
                    "type": "recommended"
                },
                {
                    "name": "CG6944-PB; Lam-PB; lamin D[[m0]]; lamin A; LaminDm0; lamin Dmo; misguided; intermediate filament-like lamina; Lamin-B; misrouted; lamin D[[m]]0; lamin D[[o]]; lamin B; B-type lamin; lamin D[[0]]; lamin Dm[[0]]; lethal(2)25Ec; lamin Dm0; nuclear lamin; n-lamin; alpha-Lamin",
                    "resource": "RefSeq",
                    "type": "synonym"
                },
                {
                    "name": "lamin, isoform B",
                    "resource": "RefSeq",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Lam",
                    "resource": "UniProtKB",
                    "type": "recommended"
                },
                {
                    "name": "2459; 74/76; CG6944; D5; Dm; Dm(0); Dm0; Dm1; Dm2; Dmel\\CG6944; DmLamin; Dmo; DmO; Dm[[0]]; Dm[[1]]; Dm[[2]]; Dm[[mit]]; Dm[[o]]; DM[[O]]; D[[m0]]; jf27; l(2)04643; l(2)25Ec; l(2)gdh-7; l(2)gdh7; l(2)jf27; lam; LAM; Lam Dm0; Lam Dm[[0]]; Lam(Dm0); lamB; LamB; LamDm; lamDm0; LamDm0; LamDmO; lamDm[[0]]; LamDm[[0]]; LamDm[[o]]; lamin; Lamin A; lamin B; Lamin B; lamin Dm0; Lamin Dm0; lamin DmO; lamin Dm[[0]]; Lamin Dm[[0]]; lamin-B; Lamin-B1; LaminA; LaminB; Lam[[Dm0]]; misg; nlam",
                    "resource": "RefSeq",
                    "type": "synonym"
                },
                {
                    "name": "2459",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "76",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "CG6944",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "D5",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "DM[[O]]",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "D[[m0]]",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "Dm(0)",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "Dm0",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "Dm1",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "Dm2",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "DmLamin",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "DmO",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "Dm[[0]]",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "Dm[[1]]",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "Dm[[2]]",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "Dm[[mit]]",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "Dm[[o]]",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG6944",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG6944",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "Dmo",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "Dm",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "LAM",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "Lam Dm0",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "Lam Dm[[0]]",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "Lam(Dm0)",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "LamDm0",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "LamDm[[0]]",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "LamDm[[o]]",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "LamDm",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "Lam[[Dm0]]",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "Lamin A",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "Lamin B",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "Lamin Dm0",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "Lamin Dm[[0]]",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "Lamin-B1",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "LaminB",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "Lam",
                    "resource": "RefSeq",
                    "type": "synonym"
                },
                {
                    "name": "jf27",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "l(2)04643",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "l(2)25Ec",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "l(2)gdh-7",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "l(2)gdh7",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "l(2)jf27",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "lamB",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "lamDm0",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "lamDm[[0]]",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "lamin B",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "lamin Dm0",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "lamin DmO",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "lamin Dm[[0]]",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "lamin-B",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "lamin",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "lam",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "misg",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "nlam",
                    "resource": "UniProtKB",
                    "type": "synonym"
                }
            ],
            "evidence": [
                {
                    "id": "0051037",
                    "database": "Alliance of Genome Resources",
                    "url": "https://www.alliancegenome.org/disease/DOID:0051037"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P14733-1",
            "uniprot_ac": "P14733",
            "uniprot_id": "LMNB1_MOUSE",
            "refseq_ac": "NP_034851",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Lamin-B1",
                    "resource": "UniProtKB",
                    "type": "recommended"
                },
                {
                    "name": "lamin-B1",
                    "resource": "RefSeq",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Lmnb1",
                    "resource": "UniProtKB",
                    "type": "recommended"
                },
                {
                    "name": "Lmnb1",
                    "resource": "RefSeq",
                    "type": "synonym"
                }
            ],
            "evidence": [
                {
                    "id": "0051037",
                    "database": "Alliance of Genome Resources",
                    "url": "https://www.alliancegenome.org/disease/DOID:0051037"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P20700-1",
            "uniprot_ac": "P20700",
            "uniprot_id": "LMNB1_HUMAN",
            "refseq_ac": "NP_005564",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Lamin-B1",
                    "resource": "UniProtKB",
                    "type": "recommended"
                },
                {
                    "name": "lamin-B1 isoform 1",
                    "resource": "RefSeq",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "LMNB1",
                    "resource": "UniProtKB",
                    "type": "recommended"
                },
                {
                    "name": "ADLD; ADLDAT; LMN; LMN2; LMNB; MCPH26",
                    "resource": "RefSeq",
                    "type": "synonym"
                },
                {
                    "name": "LMN2",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "LMNB1",
                    "resource": "RefSeq",
                    "type": "synonym"
                },
                {
                    "name": "LMNB",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "hCG_27033",
                    "resource": "UniProtKB",
                    "type": "synonym"
                }
            ],
            "evidence": [
                {
                    "id": "0051037",
                    "database": "Alliance of Genome Resources",
                    "url": "https://www.alliancegenome.org/disease/DOID:0051037"
                },
                {
                    "id": "619179",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/619179"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "F1QHC4-1",
            "uniprot_ac": "F1QHC4",
            "uniprot_id": "F1QHC4_DANRE",
            "refseq_ac": "XP_005155613",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Lamin B1",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "Lamin-B1 isoform X1",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "lamin-B1 isoform X1",
                    "resource": "RefSeq",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "lmnb1",
                    "resource": "UniProtKB",
                    "type": "recommended"
                },
                {
                    "name": "fc06g01; wu:fc06g01",
                    "resource": "RefSeq",
                    "type": "synonym"
                },
                {
                    "name": "fc06g01",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "lmnb1",
                    "resource": "RefSeq",
                    "type": "synonym"
                },
                {
                    "name": "wu:fc06g01",
                    "resource": "UniProtKB",
                    "type": "synonym"
                }
            ],
            "evidence": [
                {
                    "id": "0051037",
                    "database": "Alliance of Genome Resources",
                    "url": "https://www.alliancegenome.org/disease/DOID:0051037"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P70615-1",
            "uniprot_ac": "P70615",
            "uniprot_id": "LMNB1_RAT",
            "refseq_ac": "NP_446357",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Lamin-B1",
                    "resource": "UniProtKB",
                    "type": "recommended"
                },
                {
                    "name": "lamin-B1",
                    "resource": "RefSeq",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Lmnb1",
                    "resource": "UniProtKB",
                    "type": "recommended"
                },
                {
                    "name": "Lmnb1",
                    "resource": "RefSeq",
                    "type": "synonym"
                }
            ],
            "evidence": [
                {
                    "id": "0051037",
                    "database": "Alliance of Genome Resources",
                    "url": "https://www.alliancegenome.org/disease/DOID:0051037"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0051037"
}