{
    "disease_id": "DOID:0070713",
    "recommended_name": {
        "id": "DOID:0070713",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0070713",
        "name": "neurodevelopmental disorder with early-onset seizures, facial dysmorphism, and behavioral abnormalities",
        "description": "An autosomal dominant intellectual developmental disorder characterized by mildly to severely impaired intellectual development, febrile seizures or epilepsy, facial dysmorphism, and behavioral abnormalities that has_material_basis_in heterozygous mutation in the KLHL20 gene on chromosome 1q25."
    },
    "synonyms": [
        {
            "id": "DOID:0070713",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070713",
            "name": "NEDSZFB",
            "description": ""
        },
        {
            "id": "MONDO:0980709",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0980709",
            "name": "neurodevelopmental disorder with early-onset seizures, facial dysmorphism, and behavioral abnormalities",
            "description": ""
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0070713"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0070713",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070713",
            "categories": []
        },
        {
            "id": "MONDO:0980709",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0980709",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q9Y2M5-1",
            "uniprot_ac": "Q9Y2M5",
            "uniprot_id": "KLH20_HUMAN",
            "refseq_ac": "NP_055273",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Kelch-like protein 20",
                    "type": "recommended"
                },
                {
                    "name": "Kelch motif containing protein",
                    "type": "synonym"
                },
                {
                    "name": "Kelch-like ECT2-interacting protein",
                    "type": "synonym"
                },
                {
                    "name": "Kelch-like protein X",
                    "type": "synonym"
                },
                {
                    "name": "kelch-like ECT2-interacting protein",
                    "type": "synonym"
                },
                {
                    "name": "kelch-like protein 20",
                    "type": "synonym"
                },
                {
                    "name": "kelch-like protein X",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "KLHL20",
                    "type": "recommended"
                },
                {
                    "name": "KHLHX",
                    "type": "synonym"
                },
                {
                    "name": "KLEIP",
                    "type": "synonym"
                },
                {
                    "name": "KLHL20",
                    "type": "synonym"
                },
                {
                    "name": "KLHLX",
                    "type": "synonym"
                },
                {
                    "name": "NEDSZFB",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9Y2M5-1",
            "evidence": [
                {
                    "id": "621390",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/621390"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0070713"
}