{
    "disease_id": "DOID:0070756",
    "recommended_name": {
        "id": "DOID:0070756",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0070756",
        "name": "neurodevelopmental disorder with variable motor and speech impairment",
        "description": "An autosomal dominant intellectual developmental disorder characterized by delayed psychomotor development and hypotonia apparent from early infancy, resulting in feeding difficulties, ataxic gait or inability to walk, delayed or absent speech development, and impaired intellectual development that has_material_basis_in heterozygous mutation in the DHX30 gene on chromosome 3p21."
    },
    "synonyms": [
        {
            "id": "DOID:0070756",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070756",
            "name": "NEDMIAL",
            "description": ""
        },
        {
            "id": "MONDO:0060622",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0060622",
            "name": "neurodevelopmental disorder with severe motor impairment and absent language",
            "description": "A complex neurodevelopmental disorder caused by variation in DHX30. Individuals with variants in DHX30 have been found to have variable presentations including intellectual disability, delayed or absent speech development, delayed motor development, hypotonia, feeding difficulties, and ataxic gait or the inability to walk. Other phenotypic features commonly reported include sleep disorders, autistic features, seizures, and joint hypermobility"
        },
        {
            "id": "MONDO:0060622",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0060622",
            "name": "DHX30-related complex neurodevelopmental disorder",
            "description": ""
        },
        {
            "id": "MONDO:0060622",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0060622",
            "name": "neurodevelopmental delay-intellectual disability-ataxia-feeding difficulty syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0060622",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0060622",
            "name": "neurodevelopmental disorder with severe motor impairment and absent language",
            "description": ""
        },
        {
            "id": "MONDO:0060622",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0060622",
            "name": "NEDMIAL",
            "description": ""
        },
        {
            "id": "MIM:617804",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/617804",
            "name": "Neurodevelopmental disorder with variable motor and language impairment",
            "description": "Neurodevelopmental disorder with variable motor and language impairment"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0070756"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0070756",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070756",
            "categories": []
        },
        {
            "id": "MONDO:0060622",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0060622",
            "categories": []
        },
        {
            "id": "MIM:617804",
            "database": "MIM",
            "url": "https://www.omim.org/entry/617804",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q7L2E3-1",
            "uniprot_ac": "Q7L2E3",
            "uniprot_id": "DHX30_HUMAN",
            "refseq_ac": "NP_055781",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "ATP-dependent RNA helicase DHX30",
                    "type": "recommended"
                },
                {
                    "name": "3.6.4.13",
                    "type": "synonym"
                },
                {
                    "name": "ATP-dependent RNA helicase DHX30 isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 30",
                    "type": "synonym"
                },
                {
                    "name": "DEAH (Asp-Glu-Ala-His) box helicase 30",
                    "type": "synonym"
                },
                {
                    "name": "DEAH (Asp-Glu-Ala-His) box polypeptide 30",
                    "type": "synonym"
                },
                {
                    "name": "DEAH box protein 30",
                    "type": "synonym"
                },
                {
                    "name": "DEAH-box helicase 30",
                    "type": "synonym"
                },
                {
                    "name": "putative ATP-dependent RNA helicase DHX30",
                    "type": "synonym"
                },
                {
                    "name": "retina co-repressor",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "DHX30",
                    "type": "recommended"
                },
                {
                    "name": "DDX30",
                    "type": "synonym"
                },
                {
                    "name": "DHX30",
                    "type": "synonym"
                },
                {
                    "name": "KIAA0890",
                    "type": "synonym"
                },
                {
                    "name": "NEDMIAL",
                    "type": "synonym"
                },
                {
                    "name": "RETCOR",
                    "type": "synonym"
                }
            ],
            "record_id": "Q7L2E3-1",
            "evidence": [
                {
                    "id": "617804",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/617804"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0070756"
}