{
    "disease_id": "DOID:0111699",
    "recommended_name": {
        "id": "DOID:0111699",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0111699",
        "name": "Van den Ende-Gupta syndrome",
        "description": "A syndrome characterized by severe contractual arachnodactyly, distinctive facial features, blepharophimosis, and absence of neurological involvement that has_material_basis_in homozygous or compound heterozygous mutation in the SCARF2 gene on chromosome 22q11.21."
    },
    "synonyms": [
        {
            "id": "DOID:0111699",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111699",
            "name": "blepharophimosis, arachnodactyly, and congenital contractures",
            "description": ""
        },
        {
            "id": "DOID:0111699",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111699",
            "name": "Marden-Walker-like syndrome",
            "description": ""
        },
        {
            "id": "DOID:0111699",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111699",
            "name": "VDEGS",
            "description": ""
        },
        {
            "id": "DOID:0111699",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111699",
            "name": "Marden-Walker-like syndrome without psychmotor retardation",
            "description": ""
        },
        {
            "id": "MONDO:0010959",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010959",
            "name": "van den Ende-Gupta syndrome",
            "description": "Van den Ende-Gupta syndrome is a very rare syndrome characterized by blepharophimosis, arachnodactyly, joint contractures, and characteristic dysmorphic features."
        },
        {
            "id": "MONDO:0010959",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010959",
            "name": "Marden-Walker-like syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0010959",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010959",
            "name": "VDEGS",
            "description": ""
        },
        {
            "id": "MONDO:0010959",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010959",
            "name": "van den Ende-Gupta syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0010959",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010959",
            "name": "Marden Walker like syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0010959",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010959",
            "name": "Marden Walker like syndrome without psychomotor retardation",
            "description": ""
        },
        {
            "id": "MONDO:0010959",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010959",
            "name": "Van den Ende Gupta syndrome",
            "description": ""
        },
        {
            "id": "MIM:600920",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/600920",
            "name": "Van den Ende-Gupta syndrome",
            "description": "Van den Ende-Gupta syndrome"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0111699"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0111699",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111699",
            "categories": []
        },
        {
            "id": "MONDO:0010959",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010959",
            "categories": []
        },
        {
            "id": "MIM:600920",
            "database": "MIM",
            "url": "https://www.omim.org/entry/600920",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "P59222-1",
            "uniprot_ac": "P59222",
            "uniprot_id": "SREC2_MOUSE",
            "refseq_ac": "NP_722485",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Scavenger receptor class F member 2",
                    "type": "recommended"
                },
                {
                    "name": "SREC-II",
                    "type": "synonym"
                },
                {
                    "name": "Scavenger receptor expressed by endothelial cells 2 protein",
                    "type": "synonym"
                },
                {
                    "name": "scavenger receptor class F member 2 precursor",
                    "type": "synonym"
                },
                {
                    "name": "scavenger receptor expressed by endothelial cells 2 (acetyl LDL receptor like)",
                    "type": "synonym"
                },
                {
                    "name": "scavenger receptor type F",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Scarf2",
                    "type": "recommended"
                },
                {
                    "name": "NSR1",
                    "type": "synonym"
                },
                {
                    "name": "SREC-II",
                    "type": "synonym"
                },
                {
                    "name": "SRECRP-1",
                    "type": "synonym"
                },
                {
                    "name": "Scarf2",
                    "type": "synonym"
                },
                {
                    "name": "Scatf1",
                    "type": "synonym"
                },
                {
                    "name": "Srec2",
                    "type": "synonym"
                },
                {
                    "name": "SrecII",
                    "type": "synonym"
                }
            ],
            "record_id": "P59222-1",
            "evidence": [
                {
                    "id": "0111699",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111699"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q96GP6-1",
            "uniprot_ac": "Q96GP6",
            "uniprot_id": "SREC2_HUMAN",
            "refseq_ac": "NP_699165",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Scavenger receptor class F member 2",
                    "type": "recommended"
                },
                {
                    "name": "SREC-II",
                    "type": "synonym"
                },
                {
                    "name": "SRECRP-1",
                    "type": "synonym"
                },
                {
                    "name": "Scavenger receptor expressed by endothelial cells 2 protein",
                    "type": "synonym"
                },
                {
                    "name": "scavenger receptor class F member 2 isoform 1 precursor",
                    "type": "synonym"
                },
                {
                    "name": "scavenger receptor expressed by endothelial cells 2 protein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "SCARF2",
                    "type": "recommended"
                },
                {
                    "name": "NSR1",
                    "type": "synonym"
                },
                {
                    "name": "SCARF2",
                    "type": "synonym"
                },
                {
                    "name": "SREC-II",
                    "type": "synonym"
                },
                {
                    "name": "SREC2",
                    "type": "synonym"
                },
                {
                    "name": "SRECRP-1",
                    "type": "synonym"
                },
                {
                    "name": "SREPCR",
                    "type": "synonym"
                },
                {
                    "name": "VDEGS",
                    "type": "synonym"
                }
            ],
            "record_id": "Q96GP6-1",
            "evidence": [
                {
                    "id": "600920",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/600920"
                },
                {
                    "id": "0111699",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111699"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "D3ZBQ5-1",
            "uniprot_ac": "D3ZBQ5",
            "uniprot_id": "D3ZBQ5_RAT",
            "refseq_ac": "XP_038944006",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Scavenger receptor class F, member 2",
                    "type": "synonym"
                },
                {
                    "name": "scavenger receptor class F member 2 isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Scarf2",
                    "type": "recommended"
                },
                {
                    "name": "Scarf2",
                    "type": "synonym"
                }
            ],
            "record_id": "D3ZBQ5-1",
            "evidence": [
                {
                    "id": "0111699",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111699"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0111699"
}