{
    "disease_id": "DOID:0080318",
    "recommended_name": {
        "id": "DOID:0080318",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0080318",
        "name": "megalencephalic leukoencephalopathy with subcortical cysts 2A",
        "description": "A megalencephalic leukoencephalopathy with subcortical cysts characterized by infantile-onset macrocephaly and later onset of motor deterioration, with ataxia and spasticity, seizures, cognitive decline of variable severity, white matter abnormalities, including swelling of the cerebral white matter and subcortical cysts that has_material_basis_in homozygous or compound heterozygous mutation in the HEPACAM gene on chromosome 11q24."
    },
    "synonyms": [
        {
            "id": "MONDO:0013490",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013490",
            "name": "megalencephalic leukoencephalopathy with subcortical cysts 2A",
            "description": ""
        },
        {
            "id": "MONDO:0013490",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013490",
            "name": "megalencephalic leukoencephalopathy with subcortical cysts 2A",
            "description": ""
        },
        {
            "id": "MONDO:0013490",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013490",
            "name": "megalencephalic leukoencephalopathy with subcortical cysts type 2A",
            "description": ""
        },
        {
            "id": "MONDO:0013490",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013490",
            "name": "MLC2A",
            "description": ""
        },
        {
            "id": "MIM:613925",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/613925",
            "name": "Megalencephalic leukoencephalopathy with subcortical cysts 2A",
            "description": "Megalencephalic leukoencephalopathy with subcortical cysts 2A"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0080318"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0080318",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080318",
            "categories": []
        },
        {
            "id": "MONDO:0013490",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013490",
            "categories": []
        },
        {
            "id": "MIM:613925",
            "database": "MIM",
            "url": "https://www.omim.org/entry/613925",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0AB13AAM5-1",
            "uniprot_ac": "A0AB13AAM5",
            "uniprot_id": "A0AB13AAM5_DANRE",
            "refseq_ac": "NP_001373779",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Hepatic and glial cell adhesion molecule b isoform 1 precursor",
                    "type": "synonym"
                },
                {
                    "name": "hepatic and glial cell adhesion molecule b isoform 1 precursor",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "hepacamb",
                    "type": "recommended"
                },
                {
                    "name": "Glialcamb",
                    "type": "synonym"
                },
                {
                    "name": "hepacamb",
                    "type": "synonym"
                }
            ],
            "record_id": "A0AB13AAM5-1",
            "evidence": [
                {
                    "id": "0080318",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080318"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q640R3-1",
            "uniprot_ac": "Q640R3",
            "uniprot_id": "HECAM_MOUSE",
            "refseq_ac": "NP_780398",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Hepatic and glial cell adhesion molecule",
                    "type": "recommended"
                },
                {
                    "name": "Hepatocyte cell adhesion molecule",
                    "type": "synonym"
                },
                {
                    "name": "Protein hepaCAM",
                    "type": "synonym"
                },
                {
                    "name": "glialCAM",
                    "type": "synonym"
                },
                {
                    "name": "hepatic and glial cell adhesion molecule precursor",
                    "type": "synonym"
                },
                {
                    "name": "hepatic and glial cell adhesion molecule",
                    "type": "synonym"
                },
                {
                    "name": "protein hepaCAM",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Hepacam",
                    "type": "recommended"
                },
                {
                    "name": "2900042E01Rik",
                    "type": "synonym"
                },
                {
                    "name": "Glialcam",
                    "type": "synonym"
                },
                {
                    "name": "Hepacam",
                    "type": "synonym"
                },
                {
                    "name": "Hepn1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q640R3-1",
            "evidence": [
                {
                    "id": "0080318",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080318"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q14CZ8-1",
            "uniprot_ac": "Q14CZ8",
            "uniprot_id": "HECAM_HUMAN",
            "refseq_ac": "NP_689935",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Hepatic and glial cell adhesion molecule",
                    "type": "recommended"
                },
                {
                    "name": "Hepatocyte cell adhesion molecule",
                    "type": "synonym"
                },
                {
                    "name": "Protein hepaCAM",
                    "type": "synonym"
                },
                {
                    "name": "glialCAM",
                    "type": "synonym"
                },
                {
                    "name": "hepatic and glial cell adhesion molecule isoform 1 precursor",
                    "type": "synonym"
                },
                {
                    "name": "hepatocyte cell adhesion molecule",
                    "type": "synonym"
                },
                {
                    "name": "protein hepaCAM",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "HEPACAM",
                    "type": "recommended"
                },
                {
                    "name": "GlialCAM",
                    "type": "synonym"
                },
                {
                    "name": "HEPACAM",
                    "type": "synonym"
                },
                {
                    "name": "MLC2A",
                    "type": "synonym"
                },
                {
                    "name": "MLC2B",
                    "type": "synonym"
                }
            ],
            "record_id": "Q14CZ8-1",
            "evidence": [
                {
                    "id": "613925",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/613925"
                },
                {
                    "id": "0080318",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080318"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0A8I6B3X3-1",
            "uniprot_ac": "A0A8I6B3X3",
            "uniprot_id": "A0A8I6B3X3_RAT",
            "refseq_ac": "NP_001416363",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Hepatic and glial cell adhesion molecule",
                    "type": "recommended"
                },
                {
                    "name": "Hepatocyte cell adhesion molecule",
                    "type": "synonym"
                },
                {
                    "name": "hepatic and glial cell adhesion molecule isoform 1 precursor",
                    "type": "synonym"
                },
                {
                    "name": "hepatocyte cell adhesion molecule",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Hepacam",
                    "type": "recommended"
                },
                {
                    "name": "Hepacam",
                    "type": "synonym"
                },
                {
                    "name": "RGD1306811",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8I6B3X3-1",
            "evidence": [
                {
                    "id": "0080318",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080318"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0080318"
}