{
    "disease_id": "DOID:0070064",
    "recommended_name": {
        "id": "DOID:0070064",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0070064",
        "name": "autosomal dominant intellectual developmental disorder 34",
        "description": "An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the CERT1 gene on chromosome 5q13.3."
    },
    "synonyms": [
        {
            "id": "DOID:0070064",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070064",
            "name": "MRD34",
            "description": ""
        },
        {
            "id": "DOID:0070064",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070064",
            "name": "autosomal dominant mental retardation 34",
            "description": ""
        },
        {
            "id": "DOID:0070064",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070064",
            "name": "autosomal dominant non-syndromic intellectual disability 34",
            "description": ""
        },
        {
            "id": "DOID:0070064",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070064",
            "name": "neurodevelopmental disorder with hypotonia, speech delay, and dysmorphic facies",
            "description": ""
        },
        {
            "id": "MONDO:0014599",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014599",
            "name": "intellectual disability, autosomal dominant 34",
            "description": "Any autosomal dominant non-syndromic intellectual disability in which the cause of the disease is a mutation in the COL4A3BP gene."
        },
        {
            "id": "MONDO:0014599",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014599",
            "name": "COL4A3BP autosomal dominant non-syndromic intellectual disability",
            "description": ""
        },
        {
            "id": "MONDO:0014599",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014599",
            "name": "MRD34",
            "description": ""
        },
        {
            "id": "MONDO:0014599",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014599",
            "name": "autosomal dominant intellectual disability 34",
            "description": ""
        },
        {
            "id": "MONDO:0014599",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014599",
            "name": "autosomal dominant non-syndromic intellectual disability caused by mutation in COL4A3BP",
            "description": ""
        },
        {
            "id": "MONDO:0014599",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014599",
            "name": "intellectual developmental disorder, autosomal dominant 34",
            "description": ""
        },
        {
            "id": "MONDO:0014599",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014599",
            "name": "intellectual disability, autosomal dominant 34",
            "description": ""
        },
        {
            "id": "MONDO:0014599",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014599",
            "name": "intellectual disability, autosomal dominant type 34",
            "description": ""
        },
        {
            "id": "MONDO:0014599",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014599",
            "name": "mental retardation, autosomal dominant type 34",
            "description": ""
        },
        {
            "id": "MONDO:0014599",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014599",
            "name": "mental retardation, autosomal dominant 34",
            "description": ""
        },
        {
            "id": "MIM:616351",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/616351",
            "name": "Neurodevelopmental disorder with hypotonia, speech delay, and dysmorphic facies",
            "description": "Neurodevelopmental disorder with hypotonia, speech delay, and dysmorphic facies"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0070064"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0070064",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070064",
            "categories": []
        },
        {
            "id": "MONDO:0014599",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014599",
            "categories": []
        },
        {
            "id": "MIM:616351",
            "database": "MIM",
            "url": "https://www.omim.org/entry/616351",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q5M7Y0-1",
            "uniprot_ac": "Q5M7Y0",
            "uniprot_id": "CERT_DANRE",
            "refseq_ac": "",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Ceramide transfer protein",
                    "type": "recommended"
                },
                {
                    "name": "CERT",
                    "type": "synonym"
                },
                {
                    "name": "Collagen type IV alpha-3-binding protein",
                    "type": "synonym"
                },
                {
                    "name": "GPBP",
                    "type": "synonym"
                },
                {
                    "name": "Goodpasture antigen-binding protein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "cert1a",
                    "type": "recommended"
                },
                {
                    "name": "cert1",
                    "type": "recommended"
                },
                {
                    "name": "cert1",
                    "type": "synonym"
                },
                {
                    "name": "cert",
                    "type": "synonym"
                },
                {
                    "name": "col4a3bpa",
                    "type": "synonym"
                },
                {
                    "name": "col4a3bp",
                    "type": "synonym"
                },
                {
                    "name": "gpbp",
                    "type": "synonym"
                },
                {
                    "name": "si:ch211-129a6.6",
                    "type": "synonym"
                },
                {
                    "name": "wu:fc37f11",
                    "type": "synonym"
                },
                {
                    "name": "zgc:92147",
                    "type": "synonym"
                }
            ],
            "record_id": "Q5M7Y0-1",
            "evidence": [
                {
                    "id": "0070064",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070064"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9EQG9-1",
            "uniprot_ac": "Q9EQG9",
            "uniprot_id": "CERT_MOUSE",
            "refseq_ac": "NP_001157694",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Ceramide transfer protein",
                    "type": "recommended"
                },
                {
                    "name": "CERT",
                    "type": "synonym"
                },
                {
                    "name": "Collagen type IV alpha-3-binding protein",
                    "type": "synonym"
                },
                {
                    "name": "GPBP",
                    "type": "synonym"
                },
                {
                    "name": "Goodpasture antigen-binding protein",
                    "type": "synonym"
                },
                {
                    "name": "START domain-containing protein 11",
                    "type": "synonym"
                },
                {
                    "name": "StAR-related lipid transfer protein 11",
                    "type": "synonym"
                },
                {
                    "name": "StARD11",
                    "type": "synonym"
                },
                {
                    "name": "ceramide transfer protein isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "ceramide transfer protein",
                    "type": "synonym"
                },
                {
                    "name": "ceramide transport protein",
                    "type": "synonym"
                },
                {
                    "name": "collagen type IV alpha-3-binding protein",
                    "type": "synonym"
                },
                {
                    "name": "collagen, type IV, alpha 3 (Goodpasture antigen) binding protein",
                    "type": "synonym"
                },
                {
                    "name": "goodpasture antigen-binding protein",
                    "type": "synonym"
                },
                {
                    "name": "procollagen, type IV, alpha 3 (Goodpasture antigen) binding protein",
                    "type": "synonym"
                },
                {
                    "name": "stAR-related lipid transfer protein 11",
                    "type": "synonym"
                },
                {
                    "name": "stARD11",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Cert1",
                    "type": "recommended"
                },
                {
                    "name": "2810404O15Rik",
                    "type": "synonym"
                },
                {
                    "name": "9230101K08Rik",
                    "type": "synonym"
                },
                {
                    "name": "CERT",
                    "type": "synonym"
                },
                {
                    "name": "Cert1",
                    "type": "synonym"
                },
                {
                    "name": "Cert",
                    "type": "synonym"
                },
                {
                    "name": "Col4a3bp",
                    "type": "synonym"
                },
                {
                    "name": "GPBP",
                    "type": "synonym"
                },
                {
                    "name": "Stard11",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9EQG9-1",
            "evidence": [
                {
                    "id": "0070064",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070064"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9Y5P4-1",
            "uniprot_ac": "Q9Y5P4",
            "uniprot_id": "CERT_HUMAN",
            "refseq_ac": "NP_001123577",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Ceramide transfer protein",
                    "type": "recommended"
                },
                {
                    "name": "Collagen type IV alpha-3-binding protein",
                    "type": "synonym"
                },
                {
                    "name": "GPBP",
                    "type": "synonym"
                },
                {
                    "name": "Goodpasture antigen-binding protein",
                    "type": "synonym"
                },
                {
                    "name": "START domain-containing protein 11",
                    "type": "synonym"
                },
                {
                    "name": "StAR-related lipid transfer (START) domain containing 11",
                    "type": "synonym"
                },
                {
                    "name": "StAR-related lipid transfer protein 11",
                    "type": "synonym"
                },
                {
                    "name": "StARD11",
                    "type": "synonym"
                },
                {
                    "name": "ceramide transfer protein isoform 3",
                    "type": "synonym"
                },
                {
                    "name": "ceramide transfer protein",
                    "type": "synonym"
                },
                {
                    "name": "collagen type IV alpha 3 binding protein",
                    "type": "synonym"
                },
                {
                    "name": "collagen, type IV, alpha 3 (Goodpasture antigen) binding protein",
                    "type": "synonym"
                },
                {
                    "name": "hCERT",
                    "type": "synonym"
                },
                {
                    "name": "lipid-transfer protein CERTL",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "CERT1",
                    "type": "recommended"
                },
                {
                    "name": "CERT1",
                    "type": "synonym"
                },
                {
                    "name": "CERTL",
                    "type": "synonym"
                },
                {
                    "name": "CERT",
                    "type": "synonym"
                },
                {
                    "name": "COL4A3BP",
                    "type": "synonym"
                },
                {
                    "name": "GPBP",
                    "type": "synonym"
                },
                {
                    "name": "MRD34",
                    "type": "synonym"
                },
                {
                    "name": "NEDHSF",
                    "type": "synonym"
                },
                {
                    "name": "STARD11",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9Y5P4-1",
            "evidence": [
                {
                    "id": "616351",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/616351"
                },
                {
                    "id": "0070064",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070064"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "D4ACN6-1",
            "uniprot_ac": "D4ACN6",
            "uniprot_id": "D4ACN6_RAT",
            "refseq_ac": "",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Ceramide transfer protein",
                    "type": "recommended"
                },
                {
                    "name": "Collagen type IV alpha-3-binding protein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Cert1",
                    "type": "recommended"
                }
            ],
            "record_id": "D4ACN6-1",
            "evidence": [
                {
                    "id": "0070064",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070064"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q02435-1",
            "uniprot_ac": "Q02435",
            "uniprot_id": "BFSP1_RAT",
            "refseq_ac": "NP_113743",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Filensin",
                    "type": "recommended"
                },
                {
                    "name": "Beaded filament structural protein 1",
                    "type": "synonym"
                },
                {
                    "name": "CP94",
                    "type": "synonym"
                },
                {
                    "name": "CP97 115-kDa",
                    "type": "synonym"
                },
                {
                    "name": "Lens fiber cell beaded-filament structural protein CP 94",
                    "type": "synonym"
                },
                {
                    "name": "beaded filament structural protein 1, filensin",
                    "type": "synonym"
                },
                {
                    "name": "filensin",
                    "type": "synonym"
                },
                {
                    "name": "lens fiber cell beaded-filament structural protein CP 94",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Bfsp1",
                    "type": "recommended"
                },
                {
                    "name": "115-kDa",
                    "type": "synonym"
                },
                {
                    "name": "Bfsp1",
                    "type": "synonym"
                },
                {
                    "name": "CP94",
                    "type": "synonym"
                },
                {
                    "name": "CP95",
                    "type": "synonym"
                },
                {
                    "name": "CP97",
                    "type": "synonym"
                }
            ],
            "record_id": "Q02435-1",
            "evidence": [
                {
                    "id": "0070064",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070064"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9Y128-1",
            "uniprot_ac": "Q9Y128",
            "uniprot_id": "Q9Y128_DROME",
            "refseq_ac": "NP_001286978",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Ceramide transfer protein",
                    "type": "recommended"
                },
                {
                    "name": "CG7207-PC",
                    "type": "synonym"
                },
                {
                    "name": "Collagen type IV alpha-3-binding protein",
                    "type": "synonym"
                },
                {
                    "name": "ceramide transfer protein, isoform C",
                    "type": "synonym"
                },
                {
                    "name": "cert-PC",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "cert",
                    "type": "recommended"
                },
                {
                    "name": "BcDNA:GH07688",
                    "type": "synonym"
                },
                {
                    "name": "CERT",
                    "type": "synonym"
                },
                {
                    "name": "CG7207",
                    "type": "synonym"
                },
                {
                    "name": "Dcert",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG7207",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG7207",
                    "type": "synonym"
                },
                {
                    "name": "cert",
                    "type": "synonym"
                },
                {
                    "name": "dcert",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9Y128-1",
            "evidence": [
                {
                    "id": "0070064",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070064"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0070064"
}