{
    "disease_id": "DOID:0080317",
    "recommended_name": {
        "id": "DOID:0080317",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0080317",
        "name": "megalencephalic leukoencephalopathy with subcortical cysts 2B",
        "description": "A megalencephalic leukoencephalopathy with subcortical cysts characterized by infantile-onset macrocephaly and mildly delayed motor development associated with white matter abnormalities that improve with age, and sometimes mental retardation that has_material_basis_in heterozygous mutation in the HEPACAM gene on chromosome 11q24."
    },
    "synonyms": [
        {
            "id": "DOID:0080317",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080317",
            "name": "megalencephalic leukoencephalopathy with subcortical cysts 2B, remitting, with or without mental retardation",
            "description": ""
        },
        {
            "id": "MONDO:0013491",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013491",
            "name": "megalencephalic leukoencephalopathy with subcortical cysts 2B, remitting, with or without intellectual disability",
            "description": ""
        },
        {
            "id": "MONDO:0013491",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013491",
            "name": "megalencephalic leukoencephalopathy with subcortical cysts 2B, remitting, with or without intellectual disability",
            "description": ""
        },
        {
            "id": "MONDO:0013491",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013491",
            "name": "megalencephalic leukoencephalopathy with subcortical cysts 2B, remitting, with or without mental retardation",
            "description": ""
        },
        {
            "id": "MONDO:0013491",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013491",
            "name": "MLC2B",
            "description": ""
        },
        {
            "id": "MIM:613926",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/613926",
            "name": "Megalencephalic leukoencephalopathy with subcortical cysts 2B, remitting, with or without impaired intellectual development",
            "description": "Megalencephalic leukoencephalopathy with subcortical cysts 2B, remitting, with or without impaired intellectual development"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0080317"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0080317",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080317",
            "categories": []
        },
        {
            "id": "MONDO:0013491",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013491",
            "categories": []
        },
        {
            "id": "MIM:613926",
            "database": "MIM",
            "url": "https://www.omim.org/entry/613926",
            "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": "0080317",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080317"
                }
            ]
        },
        {
            "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": "0080317",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080317"
                }
            ]
        },
        {
            "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": "613926",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/613926"
                },
                {
                    "id": "0080317",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080317"
                }
            ]
        },
        {
            "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": "0080317",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080317"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0080317"
}