{
    "disease_id": "DOID:0051030",
    "recommended_name": {
        "id": "DOID:0051030",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0051030",
        "name": "neurodevelopmental disorder with microcephaly, absent speech, and hypotonia",
        "description": "An autosomal recessive intellectual developmental disorder that is characterized by global developmental delay, hypotonia with virtually no motor skill acquisition, and profoundly impaired intellectual development with absent speech and that has_material_basis_in homozygous or compound heterozygous mutation in the FLVCR1 gene on chromosome 1q32."
    },
    "synonyms": [
        {
            "id": "DOID:0051030",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0051030",
            "name": "NEDMISH",
            "description": ""
        },
        {
            "id": "MONDO:0976126",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0976126",
            "name": "neurodevelopmental disorder with microcephaly, absent speech, and hypotonia",
            "description": ""
        },
        {
            "id": "MIM:621060",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/621060",
            "name": "Neurodevelopmental disorder with microcephaly, absent speech, and hypotonia",
            "description": "Neurodevelopmental disorder with microcephaly, absent speech, and hypotonia"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0051030"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0051030",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0051030",
            "categories": []
        },
        {
            "id": "MONDO:0976126",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0976126",
            "categories": []
        },
        {
            "id": "MIM:621060",
            "database": "MIM",
            "url": "https://www.omim.org/entry/621060",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q5RGT2-1",
            "uniprot_ac": "Q5RGT2",
            "uniprot_id": "Q5RGT2_DANRE",
            "refseq_ac": "NP_001020693",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Choline/ethanolamine transporter FLVCR1",
                    "type": "recommended"
                },
                {
                    "name": "FLVCR heme transporter 1",
                    "type": "synonym"
                },
                {
                    "name": "Heme transporter FLVCR1",
                    "type": "synonym"
                },
                {
                    "name": "choline/ethanolamine transporter FLVCR1",
                    "type": "synonym"
                },
                {
                    "name": "feline leukemia virus subgroup C cellular receptor 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "flvcr1",
                    "type": "recommended"
                },
                {
                    "name": "flvcr1",
                    "type": "synonym"
                },
                {
                    "name": "si:ch211-147d7.6",
                    "type": "synonym"
                }
            ],
            "record_id": "Q5RGT2-1",
            "evidence": [
                {
                    "id": "0051030",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0051030"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "B2RXV4-1",
            "uniprot_ac": "B2RXV4",
            "uniprot_id": "FLVC1_MOUSE",
            "refseq_ac": "NP_001074728",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Choline/ethanolamine transporter FLVCR1",
                    "type": "recommended"
                },
                {
                    "name": "Feline leukemia virus subgroup C receptor-related protein 1",
                    "type": "synonym"
                },
                {
                    "name": "Feline leukemia virus subgroup C receptor",
                    "type": "synonym"
                },
                {
                    "name": "Heme transporter FLVCR1",
                    "type": "synonym"
                },
                {
                    "name": "Major facilitator superfamily domain containing 7B",
                    "type": "synonym"
                },
                {
                    "name": "Mfsd7b",
                    "type": "synonym"
                },
                {
                    "name": "SLC49A1",
                    "type": "synonym"
                },
                {
                    "name": "Solute carrier family 49 member 1",
                    "type": "synonym"
                },
                {
                    "name": "choline/ethanolamine transporter FLVCR1 isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "choline/ethanolamine transporter FLVCR1",
                    "type": "synonym"
                },
                {
                    "name": "feline leukemia virus subgroup C receptor-related protein 1",
                    "type": "synonym"
                },
                {
                    "name": "heme transporter FLVCR1",
                    "type": "synonym"
                },
                {
                    "name": "major facilitator superfamily domain containing 7B",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Flvcr1",
                    "type": "recommended"
                },
                {
                    "name": "9630055N22Rik",
                    "type": "synonym"
                },
                {
                    "name": "FLVCR",
                    "type": "synonym"
                },
                {
                    "name": "Flvcr1",
                    "type": "synonym"
                },
                {
                    "name": "Mfsd7b",
                    "type": "synonym"
                }
            ],
            "record_id": "B2RXV4-1",
            "evidence": [
                {
                    "id": "0051030",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0051030"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9Y5Y0-1",
            "uniprot_ac": "Q9Y5Y0",
            "uniprot_id": "FLVC1_HUMAN",
            "refseq_ac": "NP_054772",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Choline/ethanolamine transporter FLVCR1",
                    "type": "recommended"
                },
                {
                    "name": "FLVCR heme transporter 1",
                    "type": "synonym"
                },
                {
                    "name": "Feline leukemia virus subgroup C receptor-related protein 1",
                    "type": "synonym"
                },
                {
                    "name": "Feline leukemia virus subgroup C receptor",
                    "type": "synonym"
                },
                {
                    "name": "Heme transporter FLVCR1",
                    "type": "synonym"
                },
                {
                    "name": "SLC49A1",
                    "type": "synonym"
                },
                {
                    "name": "Solute carrier family 49 member 1",
                    "type": "synonym"
                },
                {
                    "name": "choline/ethanolamine transporter FLVCR1",
                    "type": "synonym"
                },
                {
                    "name": "feline leukemia virus subgroup C cellular receptor 1",
                    "type": "synonym"
                },
                {
                    "name": "feline leukemia virus subgroup C receptor-related protein 1",
                    "type": "synonym"
                },
                {
                    "name": "hFLVCR",
                    "type": "synonym"
                },
                {
                    "name": "heme transporter FLVCR1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "FLVCR1",
                    "type": "recommended"
                },
                {
                    "name": "AXPC1",
                    "type": "synonym"
                },
                {
                    "name": "FLVCR1",
                    "type": "synonym"
                },
                {
                    "name": "FLVCR",
                    "type": "synonym"
                },
                {
                    "name": "MFSD7B",
                    "type": "synonym"
                },
                {
                    "name": "NEDMISH",
                    "type": "synonym"
                },
                {
                    "name": "PCARP",
                    "type": "synonym"
                },
                {
                    "name": "PCA",
                    "type": "synonym"
                },
                {
                    "name": "RETSNS",
                    "type": "synonym"
                },
                {
                    "name": "SLC49A1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9Y5Y0-1",
            "evidence": [
                {
                    "id": "621060",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/621060"
                },
                {
                    "id": "0051030",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0051030"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "M0RB11-1",
            "uniprot_ac": "M0RB11",
            "uniprot_id": "M0RB11_RAT",
            "refseq_ac": "NP_001414554",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Choline/ethanolamine transporter FLVCR1",
                    "type": "recommended"
                },
                {
                    "name": "FLVCR heme transporter 1",
                    "type": "synonym"
                },
                {
                    "name": "Feline leukemia virus subgroup C receptor-related protein 1",
                    "type": "synonym"
                },
                {
                    "name": "Heme transporter FLVCR1",
                    "type": "synonym"
                },
                {
                    "name": "feline leukemia virus subgroup C cellular receptor 1",
                    "type": "synonym"
                },
                {
                    "name": "feline leukemia virus subgroup C receptor-related protein 1-like",
                    "type": "synonym"
                },
                {
                    "name": "feline leukemia virus subgroup C receptor-related protein 1",
                    "type": "synonym"
                },
                {
                    "name": "heme transporter FLVCR1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Flvcr1",
                    "type": "recommended"
                },
                {
                    "name": "Flvcr1",
                    "type": "synonym"
                }
            ],
            "record_id": "M0RB11-1",
            "evidence": [
                {
                    "id": "0051030",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0051030"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0051030"
}