{
    "disease_id": "DOID:0080327",
    "recommended_name": {
        "id": "DOID:0080327",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0080327",
        "name": "multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia and hydranencephaly",
        "description": "A syndrome that is characterized by severe hydranencephaly with almost complete absence of the cerebral hemispheres, which are replaced by fluid, relative preservation of the posterior fossa structures, and renal dysplasia or agenesis and has_material_basis_in autosomal recessive homozygous mutation in the CEP55 gene on chromosome 10q23."
    },
    "synonyms": [
        {
            "id": "DOID:0080327",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080327",
            "name": "MARCH",
            "description": ""
        },
        {
            "id": "MONDO:0009359",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009359",
            "name": "multinucleated neurons-anhydramnios-renal dysplasia-cerebellar hypoplasia-hydranencephaly syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0009359",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009359",
            "name": "MARCH syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0009359",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009359",
            "name": "hydranencephaly with renal aplasia-dysplasia",
            "description": ""
        },
        {
            "id": "MONDO:0009359",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009359",
            "name": "MARCH",
            "description": ""
        },
        {
            "id": "MIM:236500",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/236500",
            "name": "Multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia and hydranencephaly",
            "description": "Multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia and hydranencephaly"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0080327"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0080327",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080327",
            "categories": []
        },
        {
            "id": "MONDO:0009359",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009359",
            "categories": []
        },
        {
            "id": "MIM:236500",
            "database": "MIM",
            "url": "https://www.omim.org/entry/236500",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q502I3-1",
            "uniprot_ac": "Q502I3",
            "uniprot_id": "CEP55_DANRE",
            "refseq_ac": "NP_001018598",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Centrosomal protein of 55 kDa",
                    "type": "recommended"
                },
                {
                    "name": "Centrosomal protein 55-like",
                    "type": "synonym"
                },
                {
                    "name": "centrosomal protein of 55 kDa",
                    "type": "synonym"
                },
                {
                    "name": "cep55",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "cep55l",
                    "type": "recommended"
                },
                {
                    "name": "cep55",
                    "type": "recommended"
                },
                {
                    "name": "cep55l",
                    "type": "synonym"
                },
                {
                    "name": "zgc:112184",
                    "type": "synonym"
                }
            ],
            "record_id": "Q502I3-1",
            "evidence": [
                {
                    "id": "0080327",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080327"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q8BT07-1",
            "uniprot_ac": "Q8BT07",
            "uniprot_id": "CEP55_MOUSE",
            "refseq_ac": "NP_001157834",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Centrosomal protein of 55 kDa",
                    "type": "recommended"
                },
                {
                    "name": "Cep55",
                    "type": "synonym"
                },
                {
                    "name": "centrosomal protein of 55 kDa isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "centrosomal protein of 55 kDa",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Cep55",
                    "type": "recommended"
                },
                {
                    "name": "1200008O12Rik",
                    "type": "synonym"
                },
                {
                    "name": "2700032M20Rik",
                    "type": "synonym"
                },
                {
                    "name": "Cep55",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8BT07-1",
            "evidence": [
                {
                    "id": "0080327",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080327"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q53EZ4-1",
            "uniprot_ac": "Q53EZ4",
            "uniprot_id": "CEP55_HUMAN",
            "refseq_ac": "NP_001120654",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Centrosomal protein of 55 kDa",
                    "type": "recommended"
                },
                {
                    "name": "Cep55",
                    "type": "synonym"
                },
                {
                    "name": "Up-regulated in colon cancer 6",
                    "type": "synonym"
                },
                {
                    "name": "cancer/testis antigen 111",
                    "type": "synonym"
                },
                {
                    "name": "centrosomal protein 55kDa",
                    "type": "synonym"
                },
                {
                    "name": "centrosomal protein of 55 kDa",
                    "type": "synonym"
                },
                {
                    "name": "up-regulated in colon cancer 6",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "CEP55",
                    "type": "recommended"
                },
                {
                    "name": "C10orf3",
                    "type": "synonym"
                },
                {
                    "name": "CEP55",
                    "type": "synonym"
                },
                {
                    "name": "CT111",
                    "type": "synonym"
                },
                {
                    "name": "MARCH",
                    "type": "synonym"
                },
                {
                    "name": "URCC6",
                    "type": "synonym"
                }
            ],
            "record_id": "Q53EZ4-1",
            "evidence": [
                {
                    "id": "236500",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/236500"
                },
                {
                    "id": "0080327",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080327"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q4V7C8-1",
            "uniprot_ac": "Q4V7C8",
            "uniprot_id": "CEP55_RAT",
            "refseq_ac": "NP_001020817",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Centrosomal protein of 55 kDa",
                    "type": "recommended"
                },
                {
                    "name": "Cep55",
                    "type": "synonym"
                },
                {
                    "name": "centrosomal protein 55kDa",
                    "type": "synonym"
                },
                {
                    "name": "centrosomal protein of 55 kDa",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Cep55",
                    "type": "recommended"
                },
                {
                    "name": "Cep55",
                    "type": "synonym"
                },
                {
                    "name": "RGD1305340",
                    "type": "synonym"
                }
            ],
            "record_id": "Q4V7C8-1",
            "evidence": [
                {
                    "id": "0080327",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080327"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0080327"
}