{
    "disease_id": "DOID:0080661",
    "recommended_name": {
        "id": "DOID:0080661",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0080661",
        "name": "nonsyndromic aplasia cutis congenita",
        "description": "A skin disease characterized by localized areas of missing skin that resemble ulcers or oopen wounds in new borns and that has_material_basis_in heterozygous mutation in the BMS1 gene on chromosome 10q11."
    },
    "synonyms": [
        {
            "id": "MONDO:0007145",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007145",
            "name": "aplasia cutis congenita",
            "description": "Aplasia cutis congenita (ACC) is a rare skin disorder characterized by localized absence of skin that is usually located on the scalp but can occur anywhere on the body including the face, trunk and extremities. ACC may occasionally be associated with other anomalies."
        },
        {
            "id": "MONDO:0007145",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007145",
            "name": "aplasia cutis congenita",
            "description": ""
        },
        {
            "id": "MONDO:0007145",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007145",
            "name": "aplasia cutis congenita (disease)",
            "description": ""
        },
        {
            "id": "MONDO:0007145",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007145",
            "name": "aplasia cutis congenita recessive",
            "description": ""
        },
        {
            "id": "MONDO:0007145",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007145",
            "name": "ACC",
            "description": ""
        },
        {
            "id": "MONDO:0007145",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007145",
            "name": "aplasia cutis congenita nonsyndromic",
            "description": ""
        },
        {
            "id": "MONDO:0007145",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007145",
            "name": "aplasia cutis congenita, nonsyndromic",
            "description": ""
        },
        {
            "id": "MONDO:0007145",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007145",
            "name": "scalp defect congenital",
            "description": ""
        },
        {
            "id": "MIM:107600",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/107600",
            "name": "Aplasia cutis congenita, non-syndromic",
            "description": "Aplasia cutis congenita, non-syndromic"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0080661"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0080661",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080661",
            "categories": []
        },
        {
            "id": "MONDO:0007145",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007145",
            "categories": []
        },
        {
            "id": "MIM:107600",
            "database": "MIM",
            "url": "https://www.omim.org/entry/107600",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "E7F349-1",
            "uniprot_ac": "E7F349",
            "uniprot_id": "E7F349_DANRE",
            "refseq_ac": "NP_001104620",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "BMS1-like, ribosome assembly protein",
                    "type": "synonym"
                },
                {
                    "name": "Ribosome biogenesis protein BMS1 homolog",
                    "type": "synonym"
                },
                {
                    "name": "ribosome biogenesis protein BMS1 homolog",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "bms1",
                    "type": "recommended"
                },
                {
                    "name": "bms1l",
                    "type": "synonym"
                },
                {
                    "name": "bms1",
                    "type": "synonym"
                },
                {
                    "name": "im:7152071",
                    "type": "synonym"
                },
                {
                    "name": "wu:fb37d08",
                    "type": "synonym"
                }
            ],
            "record_id": "E7F349-1",
            "evidence": [
                {
                    "id": "0080661",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080661"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q14692-1",
            "uniprot_ac": "Q14692",
            "uniprot_id": "BMS1_HUMAN",
            "refseq_ac": "NP_055568",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Ribosome biogenesis protein BMS1 homolog",
                    "type": "recommended"
                },
                {
                    "name": "3.6.5.-",
                    "type": "synonym"
                },
                {
                    "name": "BMS1 homolog, ribosome assembly protein",
                    "type": "synonym"
                },
                {
                    "name": "BMS1-like, ribosome assembly protein",
                    "type": "synonym"
                },
                {
                    "name": "Ribosome assembly protein BMS1 homolog",
                    "type": "synonym"
                },
                {
                    "name": "ribosome assembly protein BMS1 homolog",
                    "type": "synonym"
                },
                {
                    "name": "ribosome biogenesis protein BMS1 homolog",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "BMS1",
                    "type": "recommended"
                },
                {
                    "name": "ACC",
                    "type": "synonym"
                },
                {
                    "name": "BMS1L",
                    "type": "synonym"
                },
                {
                    "name": "BMS1",
                    "type": "synonym"
                },
                {
                    "name": "KIAA0187",
                    "type": "synonym"
                }
            ],
            "record_id": "Q14692-1",
            "evidence": [
                {
                    "id": "107600",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/107600"
                },
                {
                    "id": "0080661",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080661"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q08965-1",
            "uniprot_ac": "Q08965",
            "uniprot_id": "BMS1_YEAST",
            "refseq_ac": "NP_015107",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Saccharomyces cerevisiae S288C",
                    "taxid": 559292,
                    "common_name": "Baker's yeast",
                    "glygen_name": "Yeast",
                    "reference_species": "Saccharomyces cerevisiae S288C [559292]"
                }
            ],
            "protein_names": [
                {
                    "name": "Ribosome biogenesis protein BMS1",
                    "type": "recommended"
                },
                {
                    "name": "3.6.5.-",
                    "type": "synonym"
                },
                {
                    "name": "GTPase BMS1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "BMS1",
                    "type": "recommended"
                },
                {
                    "name": "BMS1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q08965-1",
            "evidence": [
                {
                    "id": "0080661",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080661"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0A096MJ94-1",
            "uniprot_ac": "A0A096MJ94",
            "uniprot_id": "A0A096MJ94_RAT",
            "refseq_ac": "NP_001094221",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "BMS1 homolog, ribosome assembly protein",
                    "type": "synonym"
                },
                {
                    "name": "BMS1 ribosome biogenesis factor",
                    "type": "synonym"
                },
                {
                    "name": "BMS1-like, ribosome assembly protein",
                    "type": "synonym"
                },
                {
                    "name": "ribosome biogenesis protein BMS1 homolog",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Bms1",
                    "type": "recommended"
                },
                {
                    "name": "Bms1l",
                    "type": "synonym"
                },
                {
                    "name": "Bms1",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A096MJ94-1",
            "evidence": [
                {
                    "id": "0080661",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080661"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9VVC9-1",
            "uniprot_ac": "Q9VVC9",
            "uniprot_id": "Q9VVC9_DROME",
            "refseq_ac": "NP_648945",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Bms1-type G domain-containing protein",
                    "type": "recommended"
                },
                {
                    "name": "CG7728-PA",
                    "type": "synonym"
                },
                {
                    "name": "uncharacterized protein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Dmel\\CG7728",
                    "type": "recommended"
                },
                {
                    "name": "BMS1",
                    "type": "synonym"
                },
                {
                    "name": "CG7728",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG7728",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG7728",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9VVC9-1",
            "evidence": [
                {
                    "id": "0080661",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080661"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0080661"
}