{
    "disease_id": "DOID:0070277",
    "recommended_name": {
        "id": "DOID:0070277",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0070277",
        "name": "primary autosomal recessive microcephaly 15",
        "description": "A primary autosomal recessive microcephaly characterized by impaired intellectual development with poor speech, progressive microcephaly, and appendicular spasticity that has_material_basis_in homozygous or compound heterozygous mutation in the MFSD2A gene on chromosome 1p34."
    },
    "synonyms": [
        {
            "id": "DOID:0070277",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070277",
            "name": "MCPH15",
            "description": ""
        },
        {
            "id": "DOID:0070277",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070277",
            "name": "NEDMISBA",
            "description": ""
        },
        {
            "id": "DOID:0070277",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070277",
            "name": "neurodevelopmental disorder with progressive microcephaly, spasticity, and brain imaging abnormalities",
            "description": ""
        },
        {
            "id": "MONDO:0014660",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014660",
            "name": "microcephaly 15, primary, autosomal recessive",
            "description": ""
        },
        {
            "id": "MONDO:0014660",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014660",
            "name": "microcephaly 15, primary, autosomal recessive",
            "description": ""
        },
        {
            "id": "MONDO:0014660",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014660",
            "name": "neurodevelopmental disorder with progressive microcephaly, spasticity, and brain abnormalities",
            "description": ""
        },
        {
            "id": "MONDO:0014660",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014660",
            "name": "MCPH15",
            "description": ""
        },
        {
            "id": "MIM:616486",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/616486",
            "name": "Neurodevelopmental disorder with progressive microcephaly, spasticity, and brain imaging abnormalities",
            "description": "Neurodevelopmental disorder with progressive microcephaly, spasticity, and brain imaging abnormalities"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0070277"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0070277",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070277",
            "categories": []
        },
        {
            "id": "MONDO:0014660",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014660",
            "categories": []
        },
        {
            "id": "MIM:616486",
            "database": "MIM",
            "url": "https://www.omim.org/entry/616486",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q6DEJ6-1",
            "uniprot_ac": "Q6DEJ6",
            "uniprot_id": "NLS1B_DANRE",
            "refseq_ac": "NP_001003570",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Sodium-dependent lysophosphatidylcholine symporter 1-B",
                    "type": "recommended"
                },
                {
                    "name": "Major facilitator superfamily domain-containing protein 2A-B",
                    "type": "synonym"
                },
                {
                    "name": "NLS1-B",
                    "type": "synonym"
                },
                {
                    "name": "Sodium-dependent LPC symporter 1-B",
                    "type": "synonym"
                },
                {
                    "name": "major facilitator superfamily domain containing 2ab",
                    "type": "synonym"
                },
                {
                    "name": "major facilitator superfamily domain containing 2b",
                    "type": "synonym"
                },
                {
                    "name": "major facilitator superfamily domain containing 2",
                    "type": "synonym"
                },
                {
                    "name": "major facilitator superfamily domain-containing protein 2A-B",
                    "type": "synonym"
                },
                {
                    "name": "sodium-dependent LPC symporter 1-B",
                    "type": "synonym"
                },
                {
                    "name": "sodium-dependent lysophosphatidylcholine symporter 1-B",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "mfsd2ab",
                    "type": "recommended"
                },
                {
                    "name": "NLS1-B",
                    "type": "synonym"
                },
                {
                    "name": "mfsd2ab",
                    "type": "synonym"
                },
                {
                    "name": "mfsd2b",
                    "type": "synonym"
                },
                {
                    "name": "mfsd2",
                    "type": "synonym"
                },
                {
                    "name": "nls1b",
                    "type": "synonym"
                },
                {
                    "name": "si:ch211-194e15.3",
                    "type": "synonym"
                },
                {
                    "name": "si:ch211-210b19.5",
                    "type": "synonym"
                },
                {
                    "name": "zgc:101069",
                    "type": "synonym"
                }
            ],
            "record_id": "Q6DEJ6-1",
            "evidence": [
                {
                    "id": "0070277",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070277"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q5U3U7-1",
            "uniprot_ac": "Q5U3U7",
            "uniprot_id": "NLS1A_DANRE",
            "refseq_ac": "NP_001007452",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Sodium-dependent lysophosphatidylcholine symporter 1-A",
                    "type": "recommended"
                },
                {
                    "name": "Major facilitator superfamily domain-containing protein 2A-A",
                    "type": "synonym"
                },
                {
                    "name": "NLS1-A",
                    "type": "synonym"
                },
                {
                    "name": "Sodium-dependent LPC symporter 1-A",
                    "type": "synonym"
                },
                {
                    "name": "major facilitator superfamily domain containing 2aa",
                    "type": "synonym"
                },
                {
                    "name": "major facilitator superfamily domain containing 2a",
                    "type": "synonym"
                },
                {
                    "name": "major facilitator superfamily domain-containing protein 2A-A",
                    "type": "synonym"
                },
                {
                    "name": "sodium-dependent LPC symporter 1-A",
                    "type": "synonym"
                },
                {
                    "name": "sodium-dependent lysophosphatidylcholine symporter 1-A",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "mfsd2aa",
                    "type": "recommended"
                },
                {
                    "name": "NLS1-A",
                    "type": "synonym"
                },
                {
                    "name": "mfsd2aa",
                    "type": "synonym"
                },
                {
                    "name": "mfsd2a",
                    "type": "synonym"
                },
                {
                    "name": "nls1a",
                    "type": "synonym"
                },
                {
                    "name": "zgc:101615",
                    "type": "synonym"
                }
            ],
            "record_id": "Q5U3U7-1",
            "evidence": [
                {
                    "id": "0070277",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070277"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9DA75-1",
            "uniprot_ac": "Q9DA75",
            "uniprot_id": "NLS1_MOUSE",
            "refseq_ac": "NP_083938",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Sodium-dependent lysophosphatidylcholine symporter 1",
                    "type": "recommended"
                },
                {
                    "name": "Major facilitator superfamily domain-containing protein 2A",
                    "type": "synonym"
                },
                {
                    "name": "Mfsd2a",
                    "type": "synonym"
                },
                {
                    "name": "NLS1",
                    "type": "synonym"
                },
                {
                    "name": "Sodium-dependent LPC symporter 1",
                    "type": "synonym"
                },
                {
                    "name": "major facilitator superfamily domain containing 2A",
                    "type": "synonym"
                },
                {
                    "name": "major facilitator superfamily domain containing 2",
                    "type": "synonym"
                },
                {
                    "name": "major facilitator superfamily domain-containing protein 2A",
                    "type": "synonym"
                },
                {
                    "name": "sodium-dependent LPC symporter 1",
                    "type": "synonym"
                },
                {
                    "name": "sodium-dependent lysophosphatidylcholine symporter 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Mfsd2a",
                    "type": "recommended"
                },
                {
                    "name": "1700018O18Rik",
                    "type": "synonym"
                },
                {
                    "name": "Mfsd2a",
                    "type": "synonym"
                },
                {
                    "name": "Mfsd2",
                    "type": "synonym"
                },
                {
                    "name": "NLS1",
                    "type": "synonym"
                },
                {
                    "name": "Nls1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9DA75-1",
            "evidence": [
                {
                    "id": "0070277",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070277"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q8NA29-1",
            "uniprot_ac": "Q8NA29",
            "uniprot_id": "NLS1_HUMAN",
            "refseq_ac": "NP_001274737",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Sodium-dependent lysophosphatidylcholine symporter 1",
                    "type": "recommended"
                },
                {
                    "name": "HsMFSD2A",
                    "type": "synonym"
                },
                {
                    "name": "MFSD2a",
                    "type": "synonym"
                },
                {
                    "name": "Major facilitator superfamily domain-containing protein 2A",
                    "type": "synonym"
                },
                {
                    "name": "NLS1",
                    "type": "synonym"
                },
                {
                    "name": "Sodium-dependent LPC symporter 1",
                    "type": "synonym"
                },
                {
                    "name": "major facilitator superfamily domain containing 2A",
                    "type": "synonym"
                },
                {
                    "name": "major facilitator superfamily domain-containing protein 2A",
                    "type": "synonym"
                },
                {
                    "name": "sodium-dependent LPC symporter 1",
                    "type": "synonym"
                },
                {
                    "name": "sodium-dependent lysophosphatidylcholine symporter 1 isoform 3",
                    "type": "synonym"
                },
                {
                    "name": "sodium-dependent lysophosphatidylcholine symporter 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "MFSD2A",
                    "type": "recommended"
                },
                {
                    "name": "HMFN0656",
                    "type": "synonym"
                },
                {
                    "name": "HsMFSD2A",
                    "type": "synonym"
                },
                {
                    "name": "MCPH15",
                    "type": "synonym"
                },
                {
                    "name": "MFSD2A",
                    "type": "synonym"
                },
                {
                    "name": "MFSD2",
                    "type": "synonym"
                },
                {
                    "name": "NEDMISBA",
                    "type": "synonym"
                },
                {
                    "name": "NLS1",
                    "type": "synonym"
                },
                {
                    "name": "PP9177",
                    "type": "synonym"
                },
                {
                    "name": "PRO341",
                    "type": "synonym"
                },
                {
                    "name": "SLC59A1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8NA29-1",
            "evidence": [
                {
                    "id": "616486",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/616486"
                },
                {
                    "id": "0070277",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070277"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "B1WBW6-1",
            "uniprot_ac": "B1WBW6",
            "uniprot_id": "B1WBW6_RAT",
            "refseq_ac": "XP_006238854",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Sodium-dependent lysophosphatidylcholine symporter 1",
                    "type": "recommended"
                },
                {
                    "name": "Major facilitator superfamily domain-containing protein 2A",
                    "type": "synonym"
                },
                {
                    "name": "sodium-dependent lysophosphatidylcholine symporter 1 isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Mfsd2a",
                    "type": "recommended"
                },
                {
                    "name": "Mfsd2a",
                    "type": "synonym"
                },
                {
                    "name": "Mfsd2",
                    "type": "synonym"
                },
                {
                    "name": "RGD1310174",
                    "type": "synonym"
                }
            ],
            "record_id": "B1WBW6-1",
            "evidence": [
                {
                    "id": "0070277",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070277"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0070277"
}