{
    "disease_id": "DOID:0060817",
    "recommended_name": {
        "id": "DOID:0060817",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0060817",
        "name": "syndromic X-linked intellectual disability 34",
        "description": "A syndromic X-linked intellectual disability characterized by delayed psychomotor development, intellectual disability, impaired speech, dysmorphic facial features, and mild structural brain abnormalities, including thickening of the corpus callosum that has_material_basis_in mutation in the NONO gene on chromosome Xq13."
    },
    "synonyms": [
        {
            "id": "DOID:0060817",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060817",
            "name": "macrocephaly-intellectual disability-left ventricular non compaction syndrome",
            "description": ""
        },
        {
            "id": "DOID:0060817",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060817",
            "name": "MRXS34",
            "description": ""
        },
        {
            "id": "DOID:0060817",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060817",
            "name": "MRXSML",
            "description": ""
        },
        {
            "id": "DOID:0060817",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060817",
            "name": "syndromic X-linked mental retardation Mircsof-Langouet type",
            "description": ""
        },
        {
            "id": "DOID:0060817",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060817",
            "name": "mental retardation, X-linked, syndromic 34",
            "description": ""
        },
        {
            "id": "MONDO:0010501",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010501",
            "name": "syndromic X-linked intellectual disability 34",
            "description": "Macrocephaly-intellectual disability-left ventricular non compaction syndrome is a rare, genetic, syndromic intellectual disability characterized by motor and cognitive developmental delay with language impairment, macrocephaly, hypotonia, dysmorphic facial features (including long face, slanting palpebral fissures and prominent, flattened nose) and left ventricular noncompaction cardiomyopathy. Patients also present skeletal abnormalities (e.g. scoliosis, finger clinodactyly, pes planus), slender build and shy behavior. Strabismus and various neurological signs (including ataxia, tremor and hyperreflexia) may be associated, as well as epilepsy, autism and MRI findings showing a small cerebellum and abnormalities of the corpus callosum. A phenotypic variant with no cardiac involvement has been reported."
        },
        {
            "id": "MONDO:0010501",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010501",
            "name": "MRXS34",
            "description": ""
        },
        {
            "id": "MONDO:0010501",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010501",
            "name": "MRXSML",
            "description": ""
        },
        {
            "id": "MONDO:0010501",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010501",
            "name": "NONO X-linked syndromic intellectual disability",
            "description": ""
        },
        {
            "id": "MONDO:0010501",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010501",
            "name": "X-linked syndromic intellectual disability caused by mutation in NONO",
            "description": ""
        },
        {
            "id": "MONDO:0010501",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010501",
            "name": "intellectual developmental disorder, X-linked syndromic 34",
            "description": ""
        },
        {
            "id": "MONDO:0010501",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010501",
            "name": "intellectual disability, X-linked, syndromic 34",
            "description": ""
        },
        {
            "id": "MONDO:0010501",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010501",
            "name": "intellectual disability, X-linked, syndromic type 34",
            "description": ""
        },
        {
            "id": "MONDO:0010501",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010501",
            "name": "macrocephaly-intellectual disability-left ventricular non compaction syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0010501",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010501",
            "name": "mental retardation, X-linked, syndromic 34",
            "description": ""
        },
        {
            "id": "MONDO:0010501",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010501",
            "name": "mental retardation, X-linked, syndromic type 34",
            "description": ""
        },
        {
            "id": "MONDO:0010501",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010501",
            "name": "syndromic X-linked intellectual disability Mircsof-Langouet type",
            "description": ""
        },
        {
            "id": "MONDO:0010501",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010501",
            "name": "syndromic X-linked intellectual disability type 34",
            "description": ""
        },
        {
            "id": "MONDO:0010501",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010501",
            "name": "mental retardation, X-linked, syndromic, Mircsof-Langouet type",
            "description": ""
        },
        {
            "id": "MIM:300967",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/300967",
            "name": "Intellectual developmental disorder, X-linked, syndromic 34",
            "description": "Intellectual developmental disorder, X-linked, syndromic 34"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0060817"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0060817",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060817",
            "categories": []
        },
        {
            "id": "MONDO:0010501",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010501",
            "categories": []
        },
        {
            "id": "MIM:300967",
            "database": "MIM",
            "url": "https://www.omim.org/entry/300967",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q99K48-1",
            "uniprot_ac": "Q99K48",
            "uniprot_id": "NONO_MOUSE",
            "refseq_ac": "NP_001239447",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Non-POU domain-containing octamer-binding protein",
                    "type": "recommended"
                },
                {
                    "name": "NonO protein",
                    "type": "synonym"
                },
                {
                    "name": "non-POU domain-containing octamer-binding protein isoform a",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Nono",
                    "type": "recommended"
                },
                {
                    "name": "NRB54",
                    "type": "synonym"
                },
                {
                    "name": "Nono",
                    "type": "synonym"
                },
                {
                    "name": "P54NRB",
                    "type": "synonym"
                },
                {
                    "name": "nonA",
                    "type": "synonym"
                }
            ],
            "record_id": "Q99K48-1",
            "evidence": [
                {
                    "id": "0060817",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060817"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q15233-1",
            "uniprot_ac": "Q15233",
            "uniprot_id": "NONO_HUMAN",
            "refseq_ac": "NP_001138880",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Non-POU domain-containing octamer-binding protein",
                    "type": "recommended"
                },
                {
                    "name": "54 kDa nuclear RNA- and DNA-binding protein",
                    "type": "synonym"
                },
                {
                    "name": "55 kDa nuclear protein",
                    "type": "synonym"
                },
                {
                    "name": "DNA-binding p52/p100 complex, 52 kDa subunit",
                    "type": "synonym"
                },
                {
                    "name": "NMT55",
                    "type": "synonym"
                },
                {
                    "name": "NonO protein",
                    "type": "synonym"
                },
                {
                    "name": "non-POU domain-containing octamer (ATGCAAAT) binding protein",
                    "type": "synonym"
                },
                {
                    "name": "non-POU domain-containing octamer-binding protein isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "p54(nrb)",
                    "type": "synonym"
                },
                {
                    "name": "p54nrb",
                    "type": "synonym"
                },
                {
                    "name": "protein phosphatase 1, regulatory subunit 114",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "NONO",
                    "type": "recommended"
                },
                {
                    "name": "MRXS34",
                    "type": "synonym"
                },
                {
                    "name": "NMT55",
                    "type": "synonym"
                },
                {
                    "name": "NONO",
                    "type": "synonym"
                },
                {
                    "name": "NRB54",
                    "type": "synonym"
                },
                {
                    "name": "P54NRB",
                    "type": "synonym"
                },
                {
                    "name": "P54",
                    "type": "synonym"
                },
                {
                    "name": "PPP1R114",
                    "type": "synonym"
                }
            ],
            "record_id": "Q15233-1",
            "evidence": [
                {
                    "id": "300967",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/300967"
                },
                {
                    "id": "0060817",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060817"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q5FVM4-1",
            "uniprot_ac": "Q5FVM4",
            "uniprot_id": "NONO_RAT",
            "refseq_ac": "NP_001012356",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Non-POU domain-containing octamer-binding protein",
                    "type": "recommended"
                },
                {
                    "name": "NonO protein",
                    "type": "synonym"
                },
                {
                    "name": "non-POU domain-containing octamer-binding protein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Nono",
                    "type": "recommended"
                },
                {
                    "name": "Nono",
                    "type": "synonym"
                }
            ],
            "record_id": "Q5FVM4-1",
            "evidence": [
                {
                    "id": "0060817",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060817"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q04047-1",
            "uniprot_ac": "Q04047",
            "uniprot_id": "NONA_DROME",
            "refseq_ac": "NP_001014747",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Protein no-on-transient A",
                    "type": "recommended"
                },
                {
                    "name": "Bj6-monoclonal-antibody",
                    "type": "synonym"
                },
                {
                    "name": "CG4211-PC",
                    "type": "synonym"
                },
                {
                    "name": "Puff-specific protein Bj6",
                    "type": "synonym"
                },
                {
                    "name": "dissonance",
                    "type": "synonym"
                },
                {
                    "name": "no on or off transient A, isoform C",
                    "type": "synonym"
                },
                {
                    "name": "no on or off transient-A",
                    "type": "synonym"
                },
                {
                    "name": "no-on transient A",
                    "type": "synonym"
                },
                {
                    "name": "no-on-transient A",
                    "type": "synonym"
                },
                {
                    "name": "no-on-transient-A",
                    "type": "synonym"
                },
                {
                    "name": "non-on-transient-A",
                    "type": "synonym"
                },
                {
                    "name": "nonA-PC",
                    "type": "synonym"
                },
                {
                    "name": "positive spike II group",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "nonA",
                    "type": "recommended"
                },
                {
                    "name": "Bj6-1",
                    "type": "synonym"
                },
                {
                    "name": "Bj6",
                    "type": "synonym"
                },
                {
                    "name": "CG4211",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG4211",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG4211",
                    "type": "synonym"
                },
                {
                    "name": "NONA",
                    "type": "synonym"
                },
                {
                    "name": "NonA",
                    "type": "synonym"
                },
                {
                    "name": "dNONO",
                    "type": "synonym"
                },
                {
                    "name": "diss",
                    "type": "synonym"
                },
                {
                    "name": "non-A",
                    "type": "synonym"
                },
                {
                    "name": "nonA/diss",
                    "type": "synonym"
                },
                {
                    "name": "nonA",
                    "type": "synonym"
                },
                {
                    "name": "nona",
                    "type": "synonym"
                },
                {
                    "name": "opm2",
                    "type": "synonym"
                },
                {
                    "name": "p54[nrb]",
                    "type": "synonym"
                },
                {
                    "name": "x14",
                    "type": "synonym"
                }
            ],
            "record_id": "Q04047-1",
            "evidence": [
                {
                    "id": "0060817",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060817"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q24113-1",
            "uniprot_ac": "Q24113",
            "uniprot_id": "Q24113_DROME",
            "refseq_ac": "NP_001262646",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Protein no-on-transient A",
                    "type": "recommended"
                },
                {
                    "name": "CG10328-PB",
                    "type": "synonym"
                },
                {
                    "name": "no-on transient A gene",
                    "type": "synonym"
                },
                {
                    "name": "no-on transient A-like",
                    "type": "synonym"
                },
                {
                    "name": "nonA-l-PB",
                    "type": "synonym"
                },
                {
                    "name": "nonA-like, isoform B",
                    "type": "synonym"
                },
                {
                    "name": "predicted gene Z",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "nonA-l",
                    "type": "recommended"
                },
                {
                    "name": "BEST:LD09360",
                    "type": "synonym"
                },
                {
                    "name": "CG10328",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG10328",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG10328",
                    "type": "synonym"
                },
                {
                    "name": "LD09360",
                    "type": "synonym"
                },
                {
                    "name": "NonA-like",
                    "type": "synonym"
                },
                {
                    "name": "PSF",
                    "type": "synonym"
                },
                {
                    "name": "Z",
                    "type": "synonym"
                },
                {
                    "name": "nonA 1",
                    "type": "synonym"
                },
                {
                    "name": "nonA-1",
                    "type": "synonym"
                },
                {
                    "name": "nonA-l",
                    "type": "synonym"
                }
            ],
            "record_id": "Q24113-1",
            "evidence": [
                {
                    "id": "0060817",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060817"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0060817"
}