{
    "disease_id": "DOID:0111666",
    "recommended_name": {
        "id": "DOID:0111666",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0111666",
        "name": "proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome",
        "description": "A syndrome characterized by hydranencephaly, glomeruloid vasculopathy of the central nervous system and retinal vessels, diffuse clastic ischemic lesions of the brain stem, basal ganglia, and spinal cord with calcifications, and fetal akinesia with arthrogryposis that has_material_basis_in homozygous or compound heterozygous mutation in the FLVCR2 gene on chromosome 14q24.3."
    },
    "synonyms": [
        {
            "id": "DOID:0111666",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111666",
            "name": "EPV",
            "description": ""
        },
        {
            "id": "DOID:0111666",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111666",
            "name": "Fowler syndrome",
            "description": ""
        },
        {
            "id": "DOID:0111666",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111666",
            "name": "Fowler vasculopathy",
            "description": ""
        },
        {
            "id": "DOID:0111666",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111666",
            "name": "proliferative vasculopathy and hydranencephaly/hydrocephaly",
            "description": ""
        },
        {
            "id": "DOID:0111666",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111666",
            "name": "PVHH",
            "description": ""
        },
        {
            "id": "DOID:0111666",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111666",
            "name": "cerebral proliferative glomeruloid vasculopathy",
            "description": ""
        },
        {
            "id": "DOID:0111666",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111666",
            "name": "encephaloclastic proliferative vasculopathy",
            "description": ""
        },
        {
            "id": "DOID:0111666",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111666",
            "name": "hydranencephaly, Fowler type",
            "description": ""
        },
        {
            "id": "DOID:0111666",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111666",
            "name": "hydrocephaly/hydranencephaly due to cerebral vasculopathy",
            "description": ""
        },
        {
            "id": "MONDO:0009168",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009168",
            "name": "Fowler syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0009168",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009168",
            "name": "Encephaloclastic proliferative vasculopathy",
            "description": ""
        },
        {
            "id": "MONDO:0009168",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009168",
            "name": "Fowler syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0009168",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009168",
            "name": "cerebral proliferative glomeruloid vasculopathy",
            "description": ""
        },
        {
            "id": "MONDO:0009168",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009168",
            "name": "hydrocephaly/hydranencephaly due to cerebral vasculopathy",
            "description": ""
        },
        {
            "id": "MONDO:0009168",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009168",
            "name": "proliferative vasculopathy and hydranencephaly/hydrocephaly",
            "description": ""
        },
        {
            "id": "MONDO:0009168",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009168",
            "name": "PVHH",
            "description": ""
        },
        {
            "id": "MONDO:0009168",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009168",
            "name": "proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome",
            "description": ""
        },
        {
            "id": "MIM:225790",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/225790",
            "name": "Proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome",
            "description": "Proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0111666"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0111666",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111666",
            "categories": []
        },
        {
            "id": "MONDO:0009168",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009168",
            "categories": []
        },
        {
            "id": "MIM:225790",
            "database": "MIM",
            "url": "https://www.omim.org/entry/225790",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0A8M9Q308-1",
            "uniprot_ac": "A0A8M9Q308",
            "uniprot_id": "FLC2B_DANRE",
            "refseq_ac": "",
            "glycoprotein": "no",
            "species": [
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                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Choline/ethanolamine transporter flvcr2b",
                    "type": "recommended"
                },
                {
                    "name": "Feline leukemia virus subgroup C receptor-related protein 2 homolog B",
                    "type": "synonym"
                },
                {
                    "name": "Heme transporter flvcr2b",
                    "type": "synonym"
                },
                {
                    "name": "Major facilitator superfamily domain containing 7C-b",
                    "type": "synonym"
                }
            ],
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                    "name": "flvcr2b",
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                },
                {
                    "name": "Mfsd7c-b",
                    "type": "synonym"
                }
            ],
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                    "url": "https://www.alliancegenome.org/disease/DOID:0111666"
                }
            ]
        },
        {
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            "uniprot_ac": "A0A0R4ILB2",
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            "refseq_ac": "",
            "glycoprotein": "no",
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                {
                    "name": "Danio rerio",
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                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
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                {
                    "name": "Choline/ethanolamine transporter flvcr2a",
                    "type": "recommended"
                },
                {
                    "name": "Feline leukemia virus subgroup C receptor-related protein 2 homolog A",
                    "type": "synonym"
                },
                {
                    "name": "Heme transporter flvcr2a",
                    "type": "synonym"
                },
                {
                    "name": "Major facilitator superfamily domain containing 7C-a",
                    "type": "synonym"
                }
            ],
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                {
                    "name": "flvcr2a",
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                {
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                    "type": "synonym"
                }
            ],
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                    "id": "0111666",
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                    "url": "https://www.alliancegenome.org/disease/DOID:0111666"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q5PR34-1",
            "uniprot_ac": "Q5PR34",
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                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
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                {
                    "name": "Cationic amino acid transporter 2",
                    "type": "recommended"
                },
                {
                    "name": "CAT-2",
                    "type": "synonym"
                },
                {
                    "name": "CAT2",
                    "type": "synonym"
                },
                {
                    "name": "Low affinity cationic amino acid transporter 2",
                    "type": "synonym"
                },
                {
                    "name": "Solute carrier family 7 member 2",
                    "type": "synonym"
                },
                {
                    "name": "cationic amino acid transporter 2",
                    "type": "synonym"
                },
                {
                    "name": "low affinity cationic amino acid transporter 2",
                    "type": "synonym"
                },
                {
                    "name": "solute carrier family 7 (cationic amino acid transporter, y+ system), member 2",
                    "type": "synonym"
                }
            ],
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                {
                    "name": "slc7a2",
                    "type": "recommended"
                },
                {
                    "name": "slc7a2",
                    "type": "synonym"
                },
                {
                    "name": "zgc:103686",
                    "type": "synonym"
                }
            ],
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                {
                    "id": "0111666",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111666"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "B0UYF2-1",
            "uniprot_ac": "B0UYF2",
            "uniprot_id": "S7A14_DANRE",
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            "glycoprotein": "yes",
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                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Probable cationic amino acid transporter",
                    "type": "recommended"
                },
                {
                    "name": "Solute carrier family 7 member 14",
                    "type": "synonym"
                },
                {
                    "name": "probable cationic amino acid transporter",
                    "type": "synonym"
                },
                {
                    "name": "solute carrier family 7 member 14",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "slc7a14a",
                    "type": "recommended"
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                {
                    "name": "si:ch211-152d1.2",
                    "type": "synonym"
                },
                {
                    "name": "slc7a14a",
                    "type": "synonym"
                }
            ],
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                {
                    "id": "0111666",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111666"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0A2R8QFJ7-1",
            "uniprot_ac": "A0A2R8QFJ7",
            "uniprot_id": "A0A2R8QFJ7_DANRE",
            "refseq_ac": "XP_021327949",
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                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "High affinity cationic amino acid transporter 1 isoform X1",
                    "type": "synonym"
                },
                {
                    "name": "high affinity cationic amino acid transporter 1 isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "slc7a1a",
                    "type": "recommended"
                },
                {
                    "name": "slc7a1a",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A2R8QFJ7-1",
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                {
                    "id": "0111666",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111666"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q91X85-1",
            "uniprot_ac": "Q91X85",
            "uniprot_id": "FLVC2_MOUSE",
            "refseq_ac": "NP_663422",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Choline/ethanolamine transporter FLVCR2",
                    "type": "recommended"
                },
                {
                    "name": "CCT",
                    "type": "synonym"
                },
                {
                    "name": "Calcium-chelate transporter",
                    "type": "synonym"
                },
                {
                    "name": "Feline leukemia virus subgroup C receptor-related protein 2",
                    "type": "synonym"
                },
                {
                    "name": "Heme transporter FLVCR2",
                    "type": "synonym"
                },
                {
                    "name": "Major facilitator superfamily domain containing 7C",
                    "type": "synonym"
                },
                {
                    "name": "SLC49A5",
                    "type": "synonym"
                },
                {
                    "name": "Solute carrier family 49 member 2",
                    "type": "synonym"
                },
                {
                    "name": "calcium-chelate transporter",
                    "type": "synonym"
                },
                {
                    "name": "choline/ethanolamine transporter FLVCR2",
                    "type": "synonym"
                },
                {
                    "name": "feline leukemia virus subgroup C cellular receptor family, member 2",
                    "type": "synonym"
                },
                {
                    "name": "feline leukemia virus subgroup C receptor-related protein 2",
                    "type": "synonym"
                },
                {
                    "name": "heme transporter FLVCR2",
                    "type": "synonym"
                },
                {
                    "name": "major facilitator superfamily domain containing 7C",
                    "type": "synonym"
                }
            ],
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                {
                    "name": "Flvcr2",
                    "type": "recommended"
                },
                {
                    "name": "CCT",
                    "type": "synonym"
                },
                {
                    "name": "Flvcr2",
                    "type": "synonym"
                },
                {
                    "name": "Mfsd7c",
                    "type": "synonym"
                }
            ],
            "record_id": "Q91X85-1",
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                {
                    "id": "0111666",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111666"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "E9PWS4-1",
            "uniprot_ac": "E9PWS4",
            "uniprot_id": "E9PWS4_MOUSE",
            "refseq_ac": "NP_001004153",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Expressed sequence AU018091",
                    "type": "synonym"
                },
                {
                    "name": "cationic amino acid transporter 5",
                    "type": "synonym"
                },
                {
                    "name": "cationic amino acid transporter member 5",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "AU018091",
                    "type": "recommended"
                },
                {
                    "name": "AU018091",
                    "type": "synonym"
                },
                {
                    "name": "cat-5",
                    "type": "synonym"
                }
            ],
            "record_id": "E9PWS4-1",
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                {
                    "id": "0111666",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111666"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P70423-1",
            "uniprot_ac": "P70423",
            "uniprot_id": "CTR3_MOUSE",
            "refseq_ac": "NP_001288769",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
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                {
                    "name": "Cationic amino acid transporter 3",
                    "type": "recommended"
                },
                {
                    "name": "CAT-3",
                    "type": "synonym"
                },
                {
                    "name": "CAT3",
                    "type": "synonym"
                },
                {
                    "name": "Cationic amino acid transporter y+",
                    "type": "synonym"
                },
                {
                    "name": "Solute carrier family 7 member 3",
                    "type": "synonym"
                },
                {
                    "name": "amino acid transporter, cationic 3",
                    "type": "synonym"
                },
                {
                    "name": "cationic amino acid transporter 3",
                    "type": "synonym"
                },
                {
                    "name": "cationic amino acid transporter y+",
                    "type": "synonym"
                },
                {
                    "name": "solute carrier family 7 member 3",
                    "type": "synonym"
                }
            ],
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                {
                    "name": "Slc7a3",
                    "type": "recommended"
                },
                {
                    "name": "Atrc3",
                    "type": "synonym"
                },
                {
                    "name": "CAT-3",
                    "type": "synonym"
                },
                {
                    "name": "CAT3",
                    "type": "synonym"
                },
                {
                    "name": "Cat3",
                    "type": "synonym"
                },
                {
                    "name": "SLC7A1",
                    "type": "synonym"
                },
                {
                    "name": "SLC7A2",
                    "type": "synonym"
                },
                {
                    "name": "Slc7a3",
                    "type": "synonym"
                }
            ],
            "record_id": "P70423-1",
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                {
                    "id": "0111666",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111666"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P18581-1",
            "uniprot_ac": "P18581",
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            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
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                {
                    "name": "Cationic amino acid transporter 2",
                    "type": "recommended"
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                {
                    "name": "20.5",
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                    "name": "CAT-2",
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                },
                {
                    "name": "CAT2",
                    "type": "synonym"
                },
                {
                    "name": "Low affinity cationic amino acid transporter 2",
                    "type": "synonym"
                },
                {
                    "name": "Solute carrier family 7 member 2",
                    "type": "synonym"
                },
                {
                    "name": "T-cell early activation protein",
                    "type": "synonym"
                },
                {
                    "name": "TEA",
                    "type": "synonym"
                },
                {
                    "name": "amino acid transporter, cationic 2 (low affinity)",
                    "type": "synonym"
                },
                {
                    "name": "cationic amino acid transporter 2 isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "cationic amino acid transporter 2A",
                    "type": "synonym"
                },
                {
                    "name": "cationic amino acid transporter 2B",
                    "type": "synonym"
                },
                {
                    "name": "low affinity cationic amino acid transporter 2",
                    "type": "synonym"
                },
                {
                    "name": "solute carrier family 7 member 2",
                    "type": "synonym"
                }
            ],
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                {
                    "name": "Slc7a2",
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                    "name": "20.5",
                    "type": "synonym"
                },
                {
                    "name": "Atrc2",
                    "type": "synonym"
                },
                {
                    "name": "CAT-2",
                    "type": "synonym"
                },
                {
                    "name": "Cat2",
                    "type": "synonym"
                },
                {
                    "name": "Slc7a2",
                    "type": "synonym"
                },
                {
                    "name": "Tea",
                    "type": "synonym"
                }
            ],
            "record_id": "P18581-1",
            "evidence": [
                {
                    "id": "0111666",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111666"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q09143-1",
            "uniprot_ac": "Q09143",
            "uniprot_id": "CTR1_MOUSE",
            "refseq_ac": "NP_001288353",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "High affinity cationic amino acid transporter 1",
                    "type": "recommended"
                },
                {
                    "name": "CAT-1",
                    "type": "synonym"
                },
                {
                    "name": "CAT1",
                    "type": "synonym"
                },
                {
                    "name": "ERR",
                    "type": "synonym"
                },
                {
                    "name": "EcoR",
                    "type": "synonym"
                },
                {
                    "name": "Ecotropic retroviral leukemia receptor",
                    "type": "synonym"
                },
                {
                    "name": "Ecotropic retrovirus receptor",
                    "type": "synonym"
                },
                {
                    "name": "Solute carrier family 7 member 1",
                    "type": "synonym"
                },
                {
                    "name": "System Y+ basic amino acid transporter",
                    "type": "synonym"
                },
                {
                    "name": "cationic amino acid transporter 1",
                    "type": "synonym"
                },
                {
                    "name": "ecotropic retroviral leukemia receptor",
                    "type": "synonym"
                },
                {
                    "name": "ecotropic retrovirus receptor",
                    "type": "synonym"
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                {
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}