{
    "disease_id": "DOID:0081125",
    "recommended_name": {
        "id": "DOID:0081125",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0081125",
        "name": "craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development syndrome 2",
        "description": "A craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome that is characterized by flat face, low-set ears, and cleft lip and palate, as well as costovertebral anomalies including bifid and fused ribs, vertebral segmentation defects, and scoliosis. Intellectual delay can be severe, with absent speech and that has_material_basis_in homozygous mutation in the RAB5IF gene on chromosome 20q11."
    },
    "synonyms": [
        {
            "id": "MONDO:0859567",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0859567",
            "name": "craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development syndrome 2",
            "description": ""
        },
        {
            "id": "MIM:616994",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/616994",
            "name": "Craniofacial dysmorphism, skeletal anomalies and impaired intellectual development syndrome 2",
            "description": "Craniofacial dysmorphism, skeletal anomalies and impaired intellectual development syndrome 2"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0081125"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0081125",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0081125",
            "categories": []
        },
        {
            "id": "MONDO:0859567",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0859567",
            "categories": []
        },
        {
            "id": "MIM:616994",
            "database": "MIM",
            "url": "https://www.omim.org/entry/616994",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "F1RD59-1",
            "uniprot_ac": "F1RD59",
            "uniprot_id": "F1RD59_DANRE",
            "refseq_ac": "NP_956144",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "GEL complex subunit OPTI",
                    "type": "synonym"
                },
                {
                    "name": "c23h20orf24 homolog",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "rab5if",
                    "type": "recommended"
                },
                {
                    "name": "c20orf24",
                    "type": "synonym"
                },
                {
                    "name": "c23h20orf24",
                    "type": "synonym"
                },
                {
                    "name": "fi26d09",
                    "type": "synonym"
                },
                {
                    "name": "rab5if",
                    "type": "synonym"
                },
                {
                    "name": "wu:fi26d09",
                    "type": "synonym"
                },
                {
                    "name": "zgc:55393",
                    "type": "synonym"
                }
            ],
            "record_id": "F1RD59-1",
            "evidence": [
                {
                    "id": "0081125",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081125"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9CQT9-1",
            "uniprot_ac": "Q9CQT9",
            "uniprot_id": "RCAF1_MOUSE",
            "refseq_ac": "NP_080400",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "GEL complex subunit OPTI",
                    "type": "recommended"
                },
                {
                    "name": "GEL complex subunit OPTI",
                    "type": "synonym"
                },
                {
                    "name": "Obligate partner of TMCO1 insertase",
                    "type": "synonym"
                },
                {
                    "name": "RCAF1",
                    "type": "synonym"
                },
                {
                    "name": "RIP5",
                    "type": "synonym"
                },
                {
                    "name": "Rab5-interacting protein",
                    "type": "synonym"
                },
                {
                    "name": "Respirasome Complex Assembly Factor 1",
                    "type": "synonym"
                },
                {
                    "name": "novel transcript",
                    "type": "synonym"
                },
                {
                    "name": "obligate partner of TMCO1 insertase",
                    "type": "synonym"
                },
                {
                    "name": "rab5-interacting protein",
                    "type": "synonym"
                },
                {
                    "name": "respirasome Complex Assembly Factor 1",
                    "type": "synonym"
                },
                {
                    "name": "uncharacterized protein C20orf24 homolog",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Rab5if",
                    "type": "recommended"
                },
                {
                    "name": "1110008F13Rik",
                    "type": "synonym"
                },
                {
                    "name": "RCAF1",
                    "type": "synonym"
                },
                {
                    "name": "RIP5",
                    "type": "synonym"
                },
                {
                    "name": "Rab5if",
                    "type": "synonym"
                },
                {
                    "name": "Rcaf1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9CQT9-1",
            "evidence": [
                {
                    "id": "0081125",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081125"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9BUV8-1",
            "uniprot_ac": "Q9BUV8",
            "uniprot_id": "RCAF1_HUMAN",
            "refseq_ac": "NP_001186463",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "GEL complex subunit OPTI",
                    "type": "recommended"
                },
                {
                    "name": "GEL complex subunit OPTI isoform c",
                    "type": "synonym"
                },
                {
                    "name": "GEL complex subunit OPTI",
                    "type": "synonym"
                },
                {
                    "name": "Obligate partner of TMCO1 insertase",
                    "type": "synonym"
                },
                {
                    "name": "RIP5",
                    "type": "synonym"
                },
                {
                    "name": "Rab5-interacting protein",
                    "type": "synonym"
                },
                {
                    "name": "Respirasome Complex Assembly Factor 1",
                    "type": "synonym"
                },
                {
                    "name": "obligate partner of TMCO1 insertase",
                    "type": "synonym"
                },
                {
                    "name": "rab5-interacting protein",
                    "type": "synonym"
                },
                {
                    "name": "respirasome complex assembly factor 1",
                    "type": "synonym"
                },
                {
                    "name": "uncharacterized protein C20orf24",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "RAB5IF",
                    "type": "recommended"
                },
                {
                    "name": "C20orf24",
                    "type": "synonym"
                },
                {
                    "name": "CFSMR2",
                    "type": "synonym"
                },
                {
                    "name": "OPTI",
                    "type": "synonym"
                },
                {
                    "name": "PNAS-11",
                    "type": "synonym"
                },
                {
                    "name": "RAB5IF",
                    "type": "synonym"
                },
                {
                    "name": "RCAF1",
                    "type": "synonym"
                },
                {
                    "name": "RIP5",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9BUV8-1",
            "evidence": [
                {
                    "id": "616994",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/616994"
                },
                {
                    "id": "0081125",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081125"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q5FVK9-1",
            "uniprot_ac": "Q5FVK9",
            "uniprot_id": "Q5FVK9_RAT",
            "refseq_ac": "NP_001013944",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "GEL complex subunit OPTI",
                    "type": "synonym"
                },
                {
                    "name": "RAB5 interacting factor",
                    "type": "synonym"
                },
                {
                    "name": "RAB5-interacting protein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Rab5if",
                    "type": "recommended"
                },
                {
                    "name": "RGD1307752",
                    "type": "synonym"
                },
                {
                    "name": "Rab5if",
                    "type": "synonym"
                }
            ],
            "record_id": "Q5FVK9-1",
            "evidence": [
                {
                    "id": "0081125",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081125"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0081125"
}