{
    "disease_id": "DOID:0070013",
    "recommended_name": {
        "id": "DOID:0070013",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0070013",
        "name": "Seckel syndrome 2",
        "description": "A Seckel syndrome characterized by growth retardation, microcephaly with impaired intellectual development, and a characteristic facial appearance that has_material_basis_in homozygous mutation in the RBBP8 gene on chromosome 18q11."
    },
    "synonyms": [
        {
            "id": "DOID:0070013",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070013",
            "name": "SCKL2",
            "description": ""
        },
        {
            "id": "DOID:0070013",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070013",
            "name": "Seckel-type dwarfism 2",
            "description": ""
        },
        {
            "id": "DOID:0070013",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070013",
            "name": "microcephalic primordial dwarfism 2",
            "description": ""
        },
        {
            "id": "MONDO:0011715",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011715",
            "name": "Seckel syndrome 2",
            "description": "Any Seckel syndrome in which the cause of the disease is a mutation in the RBBP8 gene."
        },
        {
            "id": "MONDO:0011715",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011715",
            "name": "RBBP8 Seckel syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0011715",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011715",
            "name": "SCKL2",
            "description": ""
        },
        {
            "id": "MONDO:0011715",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011715",
            "name": "Seckel syndrome 2",
            "description": ""
        },
        {
            "id": "MONDO:0011715",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011715",
            "name": "Seckel syndrome caused by mutation in RBBP8",
            "description": ""
        },
        {
            "id": "MONDO:0011715",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011715",
            "name": "Seckel syndrome type 2",
            "description": ""
        },
        {
            "id": "MONDO:0011715",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011715",
            "name": "Seckel-type dwarfism 2",
            "description": ""
        },
        {
            "id": "MONDO:0011715",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011715",
            "name": "microcephalic primordial dwarfism 2",
            "description": ""
        },
        {
            "id": "MIM:606744",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/606744",
            "name": "Seckel syndrome 2",
            "description": "Seckel syndrome 2"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0070013"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0070013",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070013",
            "categories": []
        },
        {
            "id": "MONDO:0011715",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011715",
            "categories": []
        },
        {
            "id": "MIM:606744",
            "database": "MIM",
            "url": "https://www.omim.org/entry/606744",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "F1R983-1",
            "uniprot_ac": "F1R983",
            "uniprot_id": "CTIP_DANRE",
            "refseq_ac": "NP_001012518",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "DNA endonuclease RBBP8",
                    "type": "recommended"
                },
                {
                    "name": "3.1.-.-",
                    "type": "synonym"
                },
                {
                    "name": "DNA endonuclease RBBP8",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "rbbp8",
                    "type": "recommended"
                },
                {
                    "name": "rbbp8",
                    "type": "synonym"
                },
                {
                    "name": "zgc:113143",
                    "type": "synonym"
                }
            ],
            "record_id": "F1R983-1",
            "evidence": [
                {
                    "id": "0070013",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070013"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q80YR6-1",
            "uniprot_ac": "Q80YR6",
            "uniprot_id": "CTIP_MOUSE",
            "refseq_ac": "NP_001074692",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "DNA endonuclease RBBP8",
                    "type": "recommended"
                },
                {
                    "name": "3.1.-.-",
                    "type": "synonym"
                },
                {
                    "name": "CtBP-interacting protein",
                    "type": "synonym"
                },
                {
                    "name": "CtIP",
                    "type": "synonym"
                },
                {
                    "name": "DNA endonuclease RBBP8",
                    "type": "synonym"
                },
                {
                    "name": "RBBP-8",
                    "type": "synonym"
                },
                {
                    "name": "RIM",
                    "type": "synonym"
                },
                {
                    "name": "Retinoblastoma-binding protein 8",
                    "type": "synonym"
                },
                {
                    "name": "Retinoblastoma-interacting protein and myosin-like",
                    "type": "synonym"
                },
                {
                    "name": "SAE2",
                    "type": "synonym"
                },
                {
                    "name": "Sporulation in the absence of SPO11 protein 2 homolog",
                    "type": "synonym"
                },
                {
                    "name": "ctBP-interacting protein",
                    "type": "synonym"
                },
                {
                    "name": "retinoblastoma-binding protein 8",
                    "type": "synonym"
                },
                {
                    "name": "sporulation in the absence of SPO11 protein 2 homolog",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Rbbp8",
                    "type": "recommended"
                },
                {
                    "name": "9930104E21Rik",
                    "type": "synonym"
                },
                {
                    "name": "CtIP",
                    "type": "synonym"
                },
                {
                    "name": "Ctip",
                    "type": "synonym"
                },
                {
                    "name": "RBBP-8",
                    "type": "synonym"
                },
                {
                    "name": "RIM",
                    "type": "synonym"
                },
                {
                    "name": "Rbbp8",
                    "type": "synonym"
                },
                {
                    "name": "SAE2",
                    "type": "synonym"
                }
            ],
            "record_id": "Q80YR6-1",
            "evidence": [
                {
                    "id": "0070013",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070013"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q99708-1",
            "uniprot_ac": "Q99708",
            "uniprot_id": "CTIP_HUMAN",
            "refseq_ac": "NP_002885",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "DNA endonuclease RBBP8",
                    "type": "recommended"
                },
                {
                    "name": "3.1.-.-",
                    "type": "synonym"
                },
                {
                    "name": "CTBP-interacting protein",
                    "type": "synonym"
                },
                {
                    "name": "CtBP-interacting protein",
                    "type": "synonym"
                },
                {
                    "name": "CtIP",
                    "type": "synonym"
                },
                {
                    "name": "DNA endonuclease RBBP8 isoform a",
                    "type": "synonym"
                },
                {
                    "name": "DNA endonuclease RBBP8",
                    "type": "synonym"
                },
                {
                    "name": "RBBP-8",
                    "type": "synonym"
                },
                {
                    "name": "RIM",
                    "type": "synonym"
                },
                {
                    "name": "Retinoblastoma-binding protein 8",
                    "type": "synonym"
                },
                {
                    "name": "Retinoblastoma-interacting protein and myosin-like",
                    "type": "synonym"
                },
                {
                    "name": "SAE2",
                    "type": "synonym"
                },
                {
                    "name": "Sporulation in the absence of SPO11 protein 2 homolog",
                    "type": "synonym"
                },
                {
                    "name": "retinoblastoma binding protein 8",
                    "type": "synonym"
                },
                {
                    "name": "sporulation in the absence of SPO11 protein 2 homolog",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "RBBP8",
                    "type": "recommended"
                },
                {
                    "name": "COM1",
                    "type": "synonym"
                },
                {
                    "name": "CTIP",
                    "type": "synonym"
                },
                {
                    "name": "JAWAD",
                    "type": "synonym"
                },
                {
                    "name": "JWDS",
                    "type": "synonym"
                },
                {
                    "name": "RBBP8",
                    "type": "synonym"
                },
                {
                    "name": "RIM",
                    "type": "synonym"
                },
                {
                    "name": "SAE2",
                    "type": "synonym"
                },
                {
                    "name": "SCKL2",
                    "type": "synonym"
                }
            ],
            "record_id": "Q99708-1",
            "evidence": [
                {
                    "id": "606744",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/606744"
                },
                {
                    "id": "0070013",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070013"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "B1WC58-1",
            "uniprot_ac": "B1WC58",
            "uniprot_id": "CTIP_RAT",
            "refseq_ac": "NP_001127889",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "DNA endonuclease RBBP8",
                    "type": "recommended"
                },
                {
                    "name": "3.1.-.-",
                    "type": "synonym"
                },
                {
                    "name": "CtBP-interacting protein",
                    "type": "synonym"
                },
                {
                    "name": "CtIP",
                    "type": "synonym"
                },
                {
                    "name": "DNA endonuclease RBBP8",
                    "type": "synonym"
                },
                {
                    "name": "RBBP-8",
                    "type": "synonym"
                },
                {
                    "name": "RIM",
                    "type": "synonym"
                },
                {
                    "name": "Retinoblastoma-binding protein 8",
                    "type": "synonym"
                },
                {
                    "name": "Retinoblastoma-interacting protein and myosin-like",
                    "type": "synonym"
                },
                {
                    "name": "SAE2",
                    "type": "synonym"
                },
                {
                    "name": "Sporulation in the absence of SPO11 protein 2 homolog",
                    "type": "synonym"
                },
                {
                    "name": "ctBP-interacting protein",
                    "type": "synonym"
                },
                {
                    "name": "retinoblastoma binding protein 8",
                    "type": "synonym"
                },
                {
                    "name": "sporulation in the absence of SPO11 protein 2 homolog",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Rbbp8",
                    "type": "recommended"
                },
                {
                    "name": "CtIP",
                    "type": "synonym"
                },
                {
                    "name": "Ctip",
                    "type": "synonym"
                },
                {
                    "name": "RBBP-8",
                    "type": "synonym"
                },
                {
                    "name": "RGD1308872",
                    "type": "synonym"
                },
                {
                    "name": "RIM",
                    "type": "synonym"
                },
                {
                    "name": "Rbbp8",
                    "type": "synonym"
                },
                {
                    "name": "SAE2",
                    "type": "synonym"
                }
            ],
            "record_id": "B1WC58-1",
            "evidence": [
                {
                    "id": "0070013",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070013"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0070013"
}