{
    "disease_id": "DOID:0081204",
    "recommended_name": {
        "id": "DOID:0081204",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0081204",
        "name": "autosomal recessive intellectual developmental disorder 39",
        "description": "An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous mutation in the TTI2 gene on chromosome 8p12."
    },
    "synonyms": [
        {
            "id": "MONDO:0014238",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014238",
            "name": "severe intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0014238",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014238",
            "name": "intellectual disability, autosomal recessive type 39",
            "description": ""
        },
        {
            "id": "MONDO:0014238",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014238",
            "name": "mental retardation, autosomal recessive type 39",
            "description": ""
        },
        {
            "id": "MONDO:0014238",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014238",
            "name": "MRT39",
            "description": ""
        },
        {
            "id": "MONDO:0014238",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014238",
            "name": "intellectual disability, autosomal recessive 39",
            "description": ""
        },
        {
            "id": "MONDO:0014238",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014238",
            "name": "mental retardation, autosomal recessive 39",
            "description": ""
        },
        {
            "id": "MIM:615541",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/615541",
            "name": "Intellectual developmental disorder, autosomal recessive 39",
            "description": "Intellectual developmental disorder, autosomal recessive 39"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0081204"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0081204",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0081204",
            "categories": []
        },
        {
            "id": "MONDO:0014238",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014238",
            "categories": []
        },
        {
            "id": "MIM:615541",
            "database": "MIM",
            "url": "https://www.omim.org/entry/615541",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "E7F592-1",
            "uniprot_ac": "E7F592",
            "uniprot_id": "E7F592_DANRE",
            "refseq_ac": "XP_002663251",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "TELO2-interacting protein 2 isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "tti2",
                    "type": "recommended"
                },
                {
                    "name": "tti2",
                    "type": "synonym"
                }
            ],
            "record_id": "E7F592-1",
            "evidence": [
                {
                    "id": "0081204",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081204"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q8BGV4-1",
            "uniprot_ac": "Q8BGV4",
            "uniprot_id": "TTI2_MOUSE",
            "refseq_ac": "NP_659176",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "TELO2-interacting protein 2",
                    "type": "recommended"
                },
                {
                    "name": "TELO2-interacting protein 2 isoform a",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Tti2",
                    "type": "recommended"
                },
                {
                    "name": "Tti2",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8BGV4-1",
            "evidence": [
                {
                    "id": "0081204",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081204"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q6NXR4-1",
            "uniprot_ac": "Q6NXR4",
            "uniprot_id": "TTI2_HUMAN",
            "refseq_ac": "NP_001095871",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "TELO2-interacting protein 2",
                    "type": "recommended"
                },
                {
                    "name": "TELO2-interacting protein 2 isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "Tel2 interacting protein 2 homolog",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "TTI2",
                    "type": "recommended"
                },
                {
                    "name": "C8orf41",
                    "type": "synonym"
                },
                {
                    "name": "MRT39",
                    "type": "synonym"
                },
                {
                    "name": "TTI2",
                    "type": "synonym"
                }
            ],
            "record_id": "Q6NXR4-1",
            "evidence": [
                {
                    "id": "615541",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/615541"
                },
                {
                    "id": "0081204",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081204"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q66H56-1",
            "uniprot_ac": "Q66H56",
            "uniprot_id": "TTI2_RAT",
            "refseq_ac": "NP_001013905",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "TELO2-interacting protein 2",
                    "type": "recommended"
                },
                {
                    "name": "TELO2-interacting protein 2",
                    "type": "synonym"
                },
                {
                    "name": "Tel2 interacting protein 2 homolog",
                    "type": "synonym"
                },
                {
                    "name": "uncharacterized protein C8orf41 homolog",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Tti2",
                    "type": "recommended"
                },
                {
                    "name": "RGD1310414",
                    "type": "synonym"
                },
                {
                    "name": "Tti2",
                    "type": "synonym"
                }
            ],
            "record_id": "Q66H56-1",
            "evidence": [
                {
                    "id": "0081204",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081204"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0081204"
}