{
    "disease_id": "DOID:0061158",
    "recommended_name": {
        "id": "DOID:0061158",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0061158",
        "name": "Kariminejad neurodevelopmental syndrome",
        "description": "An autosomal recessive intellectual developmental disorder characterized by global developmental delay with delayed walking by a few years, speech delay, and impaired intellectual development that has_material_basis_in homozygous mutation in the RBSN gene on chromosome 3p25."
    },
    "synonyms": [
        {
            "id": "MONDO:0975795",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0975795",
            "name": "Kariminejad neurodevelopmental syndrome",
            "description": ""
        },
        {
            "id": "MIM:620937",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/620937",
            "name": "Kariminejad neurodevelopmental syndrome",
            "description": "Kariminejad neurodevelopmental syndrome"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0061158"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0061158",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0061158",
            "categories": []
        },
        {
            "id": "MONDO:0975795",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0975795",
            "categories": []
        },
        {
            "id": "MIM:620937",
            "database": "MIM",
            "url": "https://www.omim.org/entry/620937",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q80Y56-1",
            "uniprot_ac": "Q80Y56",
            "uniprot_id": "RBNS5_MOUSE",
            "refseq_ac": "NP_084357",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Rabenosyn-5",
                    "type": "recommended"
                },
                {
                    "name": "FYVE finger-containing Rab5 effector protein rabenosyn-5",
                    "type": "synonym"
                },
                {
                    "name": "RAB effector RBSN",
                    "type": "synonym"
                },
                {
                    "name": "Zinc finger FYVE domain-containing protein 20",
                    "type": "synonym"
                },
                {
                    "name": "rabenosyn-5",
                    "type": "synonym"
                },
                {
                    "name": "zinc finger FYVE domain-containing protein 20",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Rbsn",
                    "type": "recommended"
                },
                {
                    "name": "5330426D11Rik",
                    "type": "synonym"
                },
                {
                    "name": "Rbsn",
                    "type": "synonym"
                },
                {
                    "name": "Zfyve20",
                    "type": "synonym"
                }
            ],
            "record_id": "Q80Y56-1",
            "evidence": [
                {
                    "id": "0061158",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0061158"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9H1K0-1",
            "uniprot_ac": "Q9H1K0",
            "uniprot_id": "RBNS5_HUMAN",
            "refseq_ac": "NP_001289307",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Rabenosyn-5",
                    "type": "recommended"
                },
                {
                    "name": "110 kDa protein",
                    "type": "synonym"
                },
                {
                    "name": "FYVE finger-containing Rab5 effector protein rabenosyn-5",
                    "type": "synonym"
                },
                {
                    "name": "RAB effector RBSN",
                    "type": "synonym"
                },
                {
                    "name": "Zinc finger FYVE domain-containing protein 20",
                    "type": "synonym"
                },
                {
                    "name": "rabenosyn-5",
                    "type": "synonym"
                },
                {
                    "name": "zinc finger, FYVE domain containing 20",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "RBSN",
                    "type": "recommended"
                },
                {
                    "name": "KAREVS",
                    "type": "synonym"
                },
                {
                    "name": "MFANDO",
                    "type": "synonym"
                },
                {
                    "name": "RBSN",
                    "type": "synonym"
                },
                {
                    "name": "Rabenosyn-5",
                    "type": "synonym"
                },
                {
                    "name": "ZFYVE20",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9H1K0-1",
            "evidence": [
                {
                    "id": "620937",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/620937"
                },
                {
                    "id": "0061158",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0061158"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P32609-1",
            "uniprot_ac": "P32609",
            "uniprot_id": "PEP7_YEAST",
            "refseq_ac": "NP_010610",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Saccharomyces cerevisiae S288C",
                    "taxid": 559292,
                    "common_name": "Baker's yeast",
                    "glygen_name": "Yeast",
                    "reference_species": "Saccharomyces cerevisiae S288C [559292]"
                }
            ],
            "protein_names": [
                {
                    "name": "Vacuolar segregation protein PEP7",
                    "type": "recommended"
                },
                {
                    "name": "Carboxypeptidase Y-deficient protein 7",
                    "type": "synonym"
                },
                {
                    "name": "Protein VAC1",
                    "type": "synonym"
                },
                {
                    "name": "Vacuolar protein sorting-associated protein 19",
                    "type": "synonym"
                },
                {
                    "name": "Vacuolar protein-targeting protein 19",
                    "type": "synonym"
                },
                {
                    "name": "phosphatidylinositol-3-phosphate binding protein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "PEP7",
                    "type": "recommended"
                },
                {
                    "name": "PEP7",
                    "type": "synonym"
                },
                {
                    "name": "VAC1",
                    "type": "synonym"
                },
                {
                    "name": "VPL21",
                    "type": "synonym"
                },
                {
                    "name": "VPS19",
                    "type": "synonym"
                },
                {
                    "name": "VPT19",
                    "type": "synonym"
                }
            ],
            "record_id": "P32609-1",
            "evidence": [
                {
                    "id": "0061158",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0061158"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "D3ZL11-1",
            "uniprot_ac": "D3ZL11",
            "uniprot_id": "D3ZL11_RAT",
            "refseq_ac": "NP_001101345",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Rabenosyn, RAB effector",
                    "type": "synonym"
                },
                {
                    "name": "rabenosyn-5",
                    "type": "synonym"
                },
                {
                    "name": "zinc finger, FYVE domain containing 20",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Rbsn",
                    "type": "recommended"
                },
                {
                    "name": "Rbsn",
                    "type": "synonym"
                },
                {
                    "name": "Zfyve20",
                    "type": "synonym"
                }
            ],
            "record_id": "D3ZL11-1",
            "evidence": [
                {
                    "id": "0061158",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0061158"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9VLS5-1",
            "uniprot_ac": "Q9VLS5",
            "uniprot_id": "Q9VLS5_DROME",
            "refseq_ac": "NP_609186",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "CG8506-PA",
                    "type": "synonym"
                },
                {
                    "name": "Rabenosyn-5",
                    "type": "synonym"
                },
                {
                    "name": "Rabenosyn5",
                    "type": "synonym"
                },
                {
                    "name": "Rbsn-5-PA",
                    "type": "synonym"
                },
                {
                    "name": "dRabenosyn",
                    "type": "synonym"
                },
                {
                    "name": "early endosomal antigen 1",
                    "type": "synonym"
                },
                {
                    "name": "rabenosyn",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Rbsn-5",
                    "type": "recommended"
                },
                {
                    "name": "CG8506",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG8506",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG8506",
                    "type": "synonym"
                },
                {
                    "name": "EEA1",
                    "type": "synonym"
                },
                {
                    "name": "MENE (2L)-C",
                    "type": "synonym"
                },
                {
                    "name": "MENE(2L)-C",
                    "type": "synonym"
                },
                {
                    "name": "Rbsn-5",
                    "type": "synonym"
                },
                {
                    "name": "Rbsn5",
                    "type": "synonym"
                },
                {
                    "name": "Rbsn",
                    "type": "synonym"
                },
                {
                    "name": "rbsn-5",
                    "type": "synonym"
                },
                {
                    "name": "rbsn",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9VLS5-1",
            "evidence": [
                {
                    "id": "0061158",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0061158"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0061158"
}