{
    "disease_id": "DOID:0060822",
    "recommended_name": {
        "id": "DOID:0060822",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0060822",
        "name": "syndromic X-linked intellectual disability Cabezas type",
        "description": "A syndromic X-linked intellectual disability characterized by intellectual deficit, muscle wasting, short stature, hypogonadism, and abnormal gait, with variable occurrence of prominent lower lip, kyphosis, joint hyperextensibility, tremor, decreased fine motor coordination and impaired speech that has_material_basis_in mutation in the CUL4B gene on chromosome Xq24."
    },
    "synonyms": [
        {
            "id": "DOID:0060822",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060822",
            "name": "MRSS",
            "description": ""
        },
        {
            "id": "DOID:0060822",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060822",
            "name": "MRXS15",
            "description": ""
        },
        {
            "id": "DOID:0060822",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060822",
            "name": "MRXSC",
            "description": ""
        },
        {
            "id": "DOID:0060822",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060822",
            "name": "X-linked mental retardation with short stature",
            "description": ""
        },
        {
            "id": "DOID:0060822",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060822",
            "name": "X-linked mental retardation with short stature, hypogonadism, and abnormal gait",
            "description": ""
        },
        {
            "id": "DOID:0060822",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060822",
            "name": "mental retardation, X-linked, syndromic 15",
            "description": ""
        },
        {
            "id": "DOID:0060822",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060822",
            "name": "Cabezas syndrome; syndromic X-linked mental retardation 15",
            "description": ""
        },
        {
            "id": "DOID:0060822",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060822",
            "name": "mental retardation, X-linked, syndromic 15 (Cabezas type)",
            "description": ""
        },
        {
            "id": "MONDO:0010306",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010306",
            "name": "X-linked intellectual disability, Cabezas type",
            "description": "X-linked intellectual disability, Cabezas type is characterized by intellectual deficit, muscle wasting, short stature, a prominent lower lip, small testes, kyphosis and joint hyperextensibility. An abnormal gait, tremor, decreased fine motor coordination and impaired speech are also present. The syndrome has been described in six boys from three generations of the same family. Transmission is X-linked and the causative gene has been localized to the q24-q25 region of the X chromosome."
        },
        {
            "id": "MONDO:0010306",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010306",
            "name": "Cabezas syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0010306",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010306",
            "name": "Cabezas syndrome; syndromic X-linked intellectual disability 15",
            "description": ""
        },
        {
            "id": "MONDO:0010306",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010306",
            "name": "MRSS",
            "description": ""
        },
        {
            "id": "MONDO:0010306",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010306",
            "name": "MRXS15",
            "description": ""
        },
        {
            "id": "MONDO:0010306",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010306",
            "name": "MRXSC",
            "description": ""
        },
        {
            "id": "MONDO:0010306",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010306",
            "name": "X-linked intellectual disability with short stature",
            "description": ""
        },
        {
            "id": "MONDO:0010306",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010306",
            "name": "X-linked intellectual disability with short stature, hypogonadism, and abnormal gait",
            "description": ""
        },
        {
            "id": "MONDO:0010306",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010306",
            "name": "X-linked intellectual disability, Cabezas type",
            "description": ""
        },
        {
            "id": "MONDO:0010306",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010306",
            "name": "intellectual disability, X-linked, syndromic 15 (Cabezas type)",
            "description": ""
        },
        {
            "id": "MONDO:0010306",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010306",
            "name": "intellectual disability, X-linked, with short stature",
            "description": ""
        },
        {
            "id": "MONDO:0010306",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010306",
            "name": "mental retardation, X-linked, syndromic 15 (Cabezas type), X-linked recessive",
            "description": ""
        },
        {
            "id": "MONDO:0010306",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010306",
            "name": "mental retardation, X-linked, with short stature",
            "description": ""
        },
        {
            "id": "MONDO:0010306",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010306",
            "name": "syndromic X-linked intellectual disability Cabezas type",
            "description": ""
        },
        {
            "id": "MONDO:0010306",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010306",
            "name": "Cabezas type of X-linked syndromic intellectual disability",
            "description": ""
        },
        {
            "id": "MONDO:0010306",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010306",
            "name": "Cul4B-related X-linked intellectual disability",
            "description": ""
        },
        {
            "id": "MONDO:0010306",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010306",
            "name": "intellectual disability, X-linked, syndromic 15",
            "description": ""
        },
        {
            "id": "MONDO:0010306",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010306",
            "name": "intellectual disability, X-linked, syndromic, Cabezas type",
            "description": ""
        },
        {
            "id": "MONDO:0010306",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010306",
            "name": "mental retardation, X-linked, syndromic 15",
            "description": ""
        },
        {
            "id": "MONDO:0010306",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010306",
            "name": "mental retardation, X-linked, syndromic, Cabezas type",
            "description": ""
        },
        {
            "id": "MONDO:0010306",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010306",
            "name": "mental retardation, X-linked, with short stature, hypogonadism, and abnormal Gait",
            "description": ""
        },
        {
            "id": "MIM:300354",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/300354",
            "name": "Intellectual developmental disorder, X-linked, syndromic, Cabezas type",
            "description": "Intellectual developmental disorder, X-linked, syndromic, Cabezas type"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0060822"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0060822",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060822",
            "categories": []
        },
        {
            "id": "MONDO:0010306",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010306",
            "categories": []
        },
        {
            "id": "MIM:300354",
            "database": "MIM",
            "url": "https://www.omim.org/entry/300354",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "F8W428-1",
            "uniprot_ac": "F8W428",
            "uniprot_id": "F8W428_DANRE",
            "refseq_ac": "NP_001116316",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Cullin-4B",
                    "type": "recommended"
                },
                {
                    "name": "cullin-4B",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "cul4b",
                    "type": "recommended"
                },
                {
                    "name": "cul4b",
                    "type": "synonym"
                },
                {
                    "name": "im:7140950",
                    "type": "synonym"
                },
                {
                    "name": "im:7150765",
                    "type": "synonym"
                }
            ],
            "record_id": "F8W428-1",
            "evidence": [
                {
                    "id": "0060822",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060822"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A2A432-1",
            "uniprot_ac": "A2A432",
            "uniprot_id": "CUL4B_MOUSE",
            "refseq_ac": "NP_001103612",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Cullin-4B",
                    "type": "recommended"
                },
                {
                    "name": "CUL-4B",
                    "type": "synonym"
                },
                {
                    "name": "cullin-4B",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Cul4b",
                    "type": "recommended"
                },
                {
                    "name": "2700050M05Rik",
                    "type": "synonym"
                },
                {
                    "name": "CUL-4B",
                    "type": "synonym"
                },
                {
                    "name": "Cul4b",
                    "type": "synonym"
                },
                {
                    "name": "Kiaa0695",
                    "type": "synonym"
                },
                {
                    "name": "mKIAA0695",
                    "type": "synonym"
                }
            ],
            "record_id": "A2A432-1",
            "evidence": [
                {
                    "id": "0060822",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060822"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q13620-2",
            "uniprot_ac": "Q13620",
            "uniprot_id": "CUL4B_HUMAN",
            "refseq_ac": "NP_001073341",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Cullin-4B",
                    "type": "recommended"
                },
                {
                    "name": "CUL-4B",
                    "type": "synonym"
                },
                {
                    "name": "cullin-4B isoform 2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "CUL4B",
                    "type": "recommended"
                },
                {
                    "name": "CUL-4B",
                    "type": "synonym"
                },
                {
                    "name": "CUL4B",
                    "type": "synonym"
                },
                {
                    "name": "KIAA0695",
                    "type": "synonym"
                },
                {
                    "name": "MRXHF2",
                    "type": "synonym"
                },
                {
                    "name": "MRXS15",
                    "type": "synonym"
                },
                {
                    "name": "MRXSC",
                    "type": "synonym"
                },
                {
                    "name": "SFM2",
                    "type": "synonym"
                }
            ],
            "record_id": "Q13620-2",
            "evidence": [
                {
                    "id": "300354",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/300354"
                },
                {
                    "id": "0060822",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060822"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P53202-1",
            "uniprot_ac": "P53202",
            "uniprot_id": "CUL3_YEAST",
            "refseq_ac": "NP_011517",
            "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": "Cullin-3",
                    "type": "recommended"
                },
                {
                    "name": "Cullin-B",
                    "type": "synonym"
                },
                {
                    "name": "cullin CUL3",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "CUL3",
                    "type": "recommended"
                },
                {
                    "name": "CUL3",
                    "type": "synonym"
                }
            ],
            "record_id": "P53202-1",
            "evidence": [
                {
                    "id": "0060822",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060822"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "D3ZK73-1",
            "uniprot_ac": "D3ZK73",
            "uniprot_id": "D3ZK73_RAT",
            "refseq_ac": "NP_001100421",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Cullin-4B",
                    "type": "recommended"
                },
                {
                    "name": "cullin-4B",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Cul4b",
                    "type": "recommended"
                },
                {
                    "name": "Cul4b",
                    "type": "synonym"
                },
                {
                    "name": "RGD1564494",
                    "type": "synonym"
                }
            ],
            "record_id": "D3ZK73-1",
            "evidence": [
                {
                    "id": "0060822",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060822"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P15429-1",
            "uniprot_ac": "P15429",
            "uniprot_id": "ENOB_RAT",
            "refseq_ac": "NP_037081",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Beta-enolase",
                    "type": "recommended"
                },
                {
                    "name": "2-phospho-D-glycerate hydro-lyase",
                    "type": "synonym"
                },
                {
                    "name": "4.2.1.11",
                    "type": "synonym"
                },
                {
                    "name": "Enolase 3",
                    "type": "synonym"
                },
                {
                    "name": "MSE",
                    "type": "synonym"
                },
                {
                    "name": "Muscle specific enolase (beta beta enolose) (two splicing products)",
                    "type": "synonym"
                },
                {
                    "name": "Muscle-specific enolase",
                    "type": "synonym"
                },
                {
                    "name": "Skeletal muscle enolase",
                    "type": "synonym"
                },
                {
                    "name": "beta-enolase",
                    "type": "synonym"
                },
                {
                    "name": "enolase 3, beta, muscle",
                    "type": "synonym"
                },
                {
                    "name": "muscle-specific enolase",
                    "type": "synonym"
                },
                {
                    "name": "skeletal muscle enolase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Eno3",
                    "type": "recommended"
                },
                {
                    "name": "BBE",
                    "type": "synonym"
                },
                {
                    "name": "Eno-3",
                    "type": "synonym"
                },
                {
                    "name": "Eno3",
                    "type": "synonym"
                },
                {
                    "name": "MSE",
                    "type": "synonym"
                }
            ],
            "record_id": "P15429-1",
            "evidence": [
                {
                    "id": "0060822",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060822"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0060822"
}