{
    "disease_id": "DOID:0061045",
    "recommended_name": {
        "id": "DOID:0061045",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0061045",
        "name": "autosomal dominant intellectual developmental disorder 72",
        "description": "An autosomal dominant intellectual developmental disorder characterized by developmental delay, predominant speech delay, autistic or attention-deficit/hyperactivity disorder features, overfriendliness, generalized hypotonia, overweight/obesity, and dysmorphic features that has_material_basis_in heterozygous mutation in the SRRM2 gene on chromosome 16p13."
    },
    "synonyms": [
        {
            "id": "MONDO:0957397",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0957397",
            "name": "intellectual developmental disorder, autosomal dominant 72",
            "description": "An autosomal dominant intellectual disability disorder characterized by developmental delay, predominant speech delay, autistic or attention-deficit/hyperactivity disorder features, overfriendliness, generalized hypotonia, overweight/obesity, and dysmorphic features."
        },
        {
            "id": "MONDO:0957397",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0957397",
            "name": "MRD72",
            "description": ""
        },
        {
            "id": "MONDO:0957397",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0957397",
            "name": "SRRM2-related neurodevelopmental disorder",
            "description": ""
        },
        {
            "id": "MONDO:0957397",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0957397",
            "name": "autosomal dominant intellectual developmental disorder-72",
            "description": ""
        },
        {
            "id": "MONDO:0957397",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0957397",
            "name": "developmental delay-overweight-facial dysmorphism-behavioral abnormalities syndrome",
            "description": ""
        },
        {
            "id": "MIM:620439",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/620439",
            "name": "Intellectual developmental disorder, autosomal dominant 72",
            "description": "Intellectual developmental disorder, autosomal dominant 72"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0061045"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0061045",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0061045",
            "categories": []
        },
        {
            "id": "MONDO:0957397",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0957397",
            "categories": []
        },
        {
            "id": "MIM:620439",
            "database": "MIM",
            "url": "https://www.omim.org/entry/620439",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "F1QLP6-1",
            "uniprot_ac": "F1QLP6",
            "uniprot_id": "F1QLP6_DANRE",
            "refseq_ac": "NP_001025246",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Serine/arginine repetitive matrix protein 2",
                    "type": "synonym"
                },
                {
                    "name": "serine/arginine repetitive matrix protein 2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "srrm2",
                    "type": "recommended"
                },
                {
                    "name": "srrm2",
                    "type": "synonym"
                },
                {
                    "name": "zgc:110023",
                    "type": "synonym"
                }
            ],
            "record_id": "F1QLP6-1",
            "evidence": [
                {
                    "id": "0061045",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0061045"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q8BTI8-1",
            "uniprot_ac": "Q8BTI8",
            "uniprot_id": "SRRM2_MOUSE",
            "refseq_ac": "NP_780438",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Serine/arginine repetitive matrix protein 2",
                    "type": "recommended"
                },
                {
                    "name": "serine/arginine repetitive matrix protein 2 isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "serine/arginine repetitive matrix protein 2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Srrm2",
                    "type": "recommended"
                },
                {
                    "name": "5033413A03Rik",
                    "type": "synonym"
                },
                {
                    "name": "Kiaa0324",
                    "type": "synonym"
                },
                {
                    "name": "SRm300",
                    "type": "synonym"
                },
                {
                    "name": "Srrm2",
                    "type": "synonym"
                },
                {
                    "name": "mKIAA0324",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8BTI8-1",
            "evidence": [
                {
                    "id": "0061045",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0061045"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9UQ35-1",
            "uniprot_ac": "Q9UQ35",
            "uniprot_id": "SRRM2_HUMAN",
            "refseq_ac": "NP_057417",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Serine/arginine repetitive matrix protein 2",
                    "type": "recommended"
                },
                {
                    "name": "300 kDa nuclear matrix antigen",
                    "type": "synonym"
                },
                {
                    "name": "RNA binding protein",
                    "type": "synonym"
                },
                {
                    "name": "SR-related nuclear matrix protein of 300 kDa",
                    "type": "synonym"
                },
                {
                    "name": "Ser/Arg-related nuclear matrix protein of 300 kDa",
                    "type": "synonym"
                },
                {
                    "name": "Serine/arginine-rich splicing factor-related nuclear matrix protein of 300 kDa",
                    "type": "synonym"
                },
                {
                    "name": "Splicing coactivator subunit SRm300",
                    "type": "synonym"
                },
                {
                    "name": "Tax-responsive enhancer element-binding protein 803",
                    "type": "synonym"
                },
                {
                    "name": "TaxREB803",
                    "type": "synonym"
                },
                {
                    "name": "ser/Arg-related nuclear matrix protein of 300 kDa",
                    "type": "synonym"
                },
                {
                    "name": "serine/arginine repetitive matrix protein 2",
                    "type": "synonym"
                },
                {
                    "name": "serine/arginine-rich splicing factor-related nuclear matrix protein of 300 kDa",
                    "type": "synonym"
                },
                {
                    "name": "splicing coactivator subunit SRm300",
                    "type": "synonym"
                },
                {
                    "name": "tax-responsive enhancer element-binding protein 803",
                    "type": "synonym"
                },
                {
                    "name": "taxREB803",
                    "type": "synonym"
                },
                {
                    "name": "testicular secretory protein Li 53",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "SRRM2",
                    "type": "recommended"
                },
                {
                    "name": "300-KD",
                    "type": "synonym"
                },
                {
                    "name": "CWF21",
                    "type": "synonym"
                },
                {
                    "name": "Cwc21",
                    "type": "synonym"
                },
                {
                    "name": "HSPC075",
                    "type": "synonym"
                },
                {
                    "name": "KIAA0324",
                    "type": "synonym"
                },
                {
                    "name": "MRD72",
                    "type": "synonym"
                },
                {
                    "name": "SRL300",
                    "type": "synonym"
                },
                {
                    "name": "SRM300",
                    "type": "synonym"
                },
                {
                    "name": "SRRM2",
                    "type": "synonym"
                },
                {
                    "name": "SRm300",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9UQ35-1",
            "evidence": [
                {
                    "id": "620439",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/620439"
                },
                {
                    "id": "0061045",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0061045"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0A8I6A2Y2-1",
            "uniprot_ac": "A0A8I6A2Y2",
            "uniprot_id": "A0A8I6A2Y2_RAT",
            "refseq_ac": "NP_001264083",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Serine/arginine repetitive matrix 2",
                    "type": "synonym"
                },
                {
                    "name": "serine/arginine repetitive matrix protein 2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Srrm2",
                    "type": "recommended"
                },
                {
                    "name": "Srrm2",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8I6A2Y2-1",
            "evidence": [
                {
                    "id": "0061045",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0061045"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A8JNI2-1",
            "uniprot_ac": "A8JNI2",
            "uniprot_id": "A8JNI2_DROME",
            "refseq_ac": "NP_001097475",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "CG7971-PF",
                    "type": "synonym"
                },
                {
                    "name": "Serine-arginine repetitive matrix 2/3/4, isoform F",
                    "type": "synonym"
                },
                {
                    "name": "Srrm234-PF",
                    "type": "synonym"
                },
                {
                    "name": "anon-fast-evolving-1A7",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Srrm234",
                    "type": "recommended"
                },
                {
                    "name": "BcDNA:GH04236",
                    "type": "synonym"
                },
                {
                    "name": "CG7971",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG7971",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG7971",
                    "type": "synonym"
                },
                {
                    "name": "SRm300",
                    "type": "synonym"
                },
                {
                    "name": "Srrm234",
                    "type": "synonym"
                },
                {
                    "name": "anon-EST:fe1A7",
                    "type": "synonym"
                }
            ],
            "record_id": "A8JNI2-1",
            "evidence": [
                {
                    "id": "0061045",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0061045"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0061045"
}