{
    "disease_id": "DOID:0112044",
    "recommended_name": {
        "id": "DOID:0112044",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0112044",
        "name": "non-syndromic X-linked intellectual disability 98",
        "description": "A non-syndromic X-linked intellectual disability characterized by delayed psychomotor development, poor speech, behavioral abnormalities, poor overall growth, dysmorphic facial features, and often early-onset seizures, with males generally more severely affected than females that has_material_basis_in heterozygous or hemizygous mutation in NEXMIF on chromosome Xq13.3."
    },
    "synonyms": [
        {
            "id": "DOID:0112044",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0112044",
            "name": "MRX98",
            "description": ""
        },
        {
            "id": "DOID:0112044",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0112044",
            "name": "X-linked mental retardation 98",
            "description": ""
        },
        {
            "id": "MONDO:0010483",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010483",
            "name": "X-linked intellectual disability, Cantagrel type",
            "description": "An X-linked syndromic intellectual disability characterized by marked neonatal hypotonia, progressive quadriparesia, severely delayed developmental milestones (walking at 3 years of age), gastroesophageal reflux, stereotypic movements of the hands, esotropia and infantile autism."
        },
        {
            "id": "MONDO:0010483",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010483",
            "name": "MRX98",
            "description": ""
        },
        {
            "id": "MONDO:0010483",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010483",
            "name": "X-linked intellectual developmental disorder-98",
            "description": ""
        },
        {
            "id": "MONDO:0010483",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010483",
            "name": "X-linked intellectual disability-98",
            "description": ""
        },
        {
            "id": "MONDO:0010483",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010483",
            "name": "XLID98",
            "description": ""
        },
        {
            "id": "MONDO:0010483",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010483",
            "name": "intellectual disability, X-linked 98",
            "description": ""
        },
        {
            "id": "MONDO:0010483",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010483",
            "name": "intellectual disability, X-linked type 98",
            "description": ""
        },
        {
            "id": "MONDO:0010483",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010483",
            "name": "mental retardation, X-linked 98",
            "description": ""
        },
        {
            "id": "MONDO:0010483",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010483",
            "name": "mental retardation, X-linked type 98",
            "description": ""
        },
        {
            "id": "MIM:300912",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/300912",
            "name": "Intellectual developmental disorder, X-linked 98",
            "description": "Intellectual developmental disorder, X-linked 98"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0112044"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0112044",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0112044",
            "categories": []
        },
        {
            "id": "MONDO:0010483",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010483",
            "categories": []
        },
        {
            "id": "MIM:300912",
            "database": "MIM",
            "url": "https://www.omim.org/entry/300912",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q5DTT1-1",
            "uniprot_ac": "Q5DTT1",
            "uniprot_id": "NEXMI_MOUSE",
            "refseq_ac": "NP_001070822",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Neurite extension and migration factor",
                    "type": "recommended"
                },
                {
                    "name": "KIAA2022 protein associated with intellectual disability, language impairment and autistic behavior homolog",
                    "type": "synonym"
                },
                {
                    "name": "KIDLIA",
                    "type": "synonym"
                },
                {
                    "name": "XLMR protein related to neurite extension",
                    "type": "synonym"
                },
                {
                    "name": "neurite extension and migration factor",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Nexmif",
                    "type": "recommended"
                },
                {
                    "name": "A230051P11",
                    "type": "synonym"
                },
                {
                    "name": "KIDLIA",
                    "type": "synonym"
                },
                {
                    "name": "Kiaa2022",
                    "type": "synonym"
                },
                {
                    "name": "Nexmif",
                    "type": "synonym"
                },
                {
                    "name": "Xpn",
                    "type": "synonym"
                }
            ],
            "record_id": "Q5DTT1-1",
            "evidence": [
                {
                    "id": "0112044",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112044"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q5QGS0-1",
            "uniprot_ac": "Q5QGS0",
            "uniprot_id": "NEXMI_HUMAN",
            "refseq_ac": "NP_001008537",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Neurite extension and migration factor",
                    "type": "recommended"
                },
                {
                    "name": "XLMR protein related to neurite extension",
                    "type": "synonym"
                },
                {
                    "name": "XLMR-related protein, neurite extension",
                    "type": "synonym"
                },
                {
                    "name": "XPN",
                    "type": "synonym"
                },
                {
                    "name": "neurite extension and migration factor",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "NEXMIF",
                    "type": "recommended"
                },
                {
                    "name": "KIAA2022",
                    "type": "synonym"
                },
                {
                    "name": "KIDLIA",
                    "type": "synonym"
                },
                {
                    "name": "MRX98",
                    "type": "synonym"
                },
                {
                    "name": "NEXMIF",
                    "type": "synonym"
                },
                {
                    "name": "XLID98",
                    "type": "synonym"
                },
                {
                    "name": "XPN",
                    "type": "synonym"
                }
            ],
            "record_id": "Q5QGS0-1",
            "evidence": [
                {
                    "id": "300912",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/300912"
                },
                {
                    "id": "0112044",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112044"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "D3ZGX1-1",
            "uniprot_ac": "D3ZGX1",
            "uniprot_id": "NEXMI_RAT",
            "refseq_ac": "NP_001300744",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Neurite extension and migration factor",
                    "type": "recommended"
                },
                {
                    "name": "KIAA2022 protein associated with intellectual disability, language impairment and autistic behavior homolog",
                    "type": "synonym"
                },
                {
                    "name": "KIDLIA",
                    "type": "synonym"
                },
                {
                    "name": "XLMR protein related to neurite extension",
                    "type": "synonym"
                },
                {
                    "name": "Xpn",
                    "type": "synonym"
                },
                {
                    "name": "neurite extension and migration factor",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Nexmif",
                    "type": "recommended"
                },
                {
                    "name": "KIAA2022",
                    "type": "synonym"
                },
                {
                    "name": "KIDLIA",
                    "type": "synonym"
                },
                {
                    "name": "Nexmif",
                    "type": "synonym"
                },
                {
                    "name": "RGD1561931",
                    "type": "synonym"
                },
                {
                    "name": "Xpn",
                    "type": "synonym"
                }
            ],
            "record_id": "D3ZGX1-1",
            "evidence": [
                {
                    "id": "0112044",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112044"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0112044"
}