{
    "disease_id": "DOID:0111844",
    "recommended_name": {
        "id": "DOID:0111844",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0111844",
        "name": "X-linked intellectual developmental disorder 108",
        "description": "A syndromic X-linked intellectual disability characterized by global developmental delay, delayed walking, and poor speech acquisition that has_material_basis_in hemizygous mutation in the SLC9A7 gene on chromosome Xp11.3."
    },
    "synonyms": [
        {
            "id": "DOID:0111844",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111844",
            "name": "MRX108",
            "description": ""
        },
        {
            "id": "MONDO:0026723",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0026723",
            "name": "intellectual developmental disorder, X-linked 108",
            "description": ""
        },
        {
            "id": "MONDO:0026723",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0026723",
            "name": "intellectual developmental disorder, X-linked 108, X-linked recessive",
            "description": ""
        },
        {
            "id": "MONDO:0026723",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0026723",
            "name": "MRX108",
            "description": ""
        },
        {
            "id": "MIM:301024",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/301024",
            "name": "Intellectual developmental disorder, X-linked 108",
            "description": "Intellectual developmental disorder, X-linked 108"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0111844"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0111844",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111844",
            "categories": []
        },
        {
            "id": "MONDO:0026723",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0026723",
            "categories": []
        },
        {
            "id": "MIM:301024",
            "database": "MIM",
            "url": "https://www.omim.org/entry/301024",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0A8M2BDB4-1",
            "uniprot_ac": "A0A8M2BDB4",
            "uniprot_id": "A0A8M2BDB4_DANRE",
            "refseq_ac": "XP_005166043",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Sodium/hydrogen exchanger",
                    "type": "recommended"
                },
                {
                    "name": "sodium/hydrogen exchanger 7 isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "slc9a7",
                    "type": "recommended"
                },
                {
                    "name": "NHE7",
                    "type": "synonym"
                },
                {
                    "name": "slc9a7",
                    "type": "synonym"
                },
                {
                    "name": "wu:fk03b09",
                    "type": "synonym"
                },
                {
                    "name": "zgc:101088",
                    "type": "synonym"
                },
                {
                    "name": "zgc:113878",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8M2BDB4-1",
            "evidence": [
                {
                    "id": "0111844",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111844"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q8BLV3-1",
            "uniprot_ac": "Q8BLV3",
            "uniprot_id": "SL9A7_MOUSE",
            "refseq_ac": "NP_796327",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Sodium/hydrogen exchanger 7",
                    "type": "recommended"
                },
                {
                    "name": "NHE-7",
                    "type": "synonym"
                },
                {
                    "name": "Na(+)/H(+) exchanger 7",
                    "type": "synonym"
                },
                {
                    "name": "Solute carrier family 9 member 7",
                    "type": "synonym"
                },
                {
                    "name": "sodium/hydrogen exchanger 7",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Slc9a7",
                    "type": "recommended"
                },
                {
                    "name": "6330509M05Rik",
                    "type": "synonym"
                },
                {
                    "name": "A530087D17Rik",
                    "type": "synonym"
                },
                {
                    "name": "NHE7",
                    "type": "synonym"
                },
                {
                    "name": "Nhe7",
                    "type": "synonym"
                },
                {
                    "name": "Slc9a7",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8BLV3-1",
            "evidence": [
                {
                    "id": "0111844",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111844"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q96T83-1",
            "uniprot_ac": "Q96T83",
            "uniprot_id": "SL9A7_HUMAN",
            "refseq_ac": "NP_115980",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Sodium/hydrogen exchanger 7",
                    "type": "recommended"
                },
                {
                    "name": "NHE-7",
                    "type": "synonym"
                },
                {
                    "name": "Na(+)/H(+) exchanger 7",
                    "type": "synonym"
                },
                {
                    "name": "Solute carrier family 9 member 7",
                    "type": "synonym"
                },
                {
                    "name": "nonselective sodium potassium/proton exchanger",
                    "type": "synonym"
                },
                {
                    "name": "sodium/hydrogen exchanger 7 isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "solute carrier family 9 (sodium/hydrogen exchanger)",
                    "type": "synonym"
                },
                {
                    "name": "solute carrier family 9, subfamily A (NHE7, cation proton antiporter 7), member 7",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "SLC9A7",
                    "type": "recommended"
                },
                {
                    "name": "MRX108",
                    "type": "synonym"
                },
                {
                    "name": "NHE-7",
                    "type": "synonym"
                },
                {
                    "name": "NHE7",
                    "type": "synonym"
                },
                {
                    "name": "SLC9A7",
                    "type": "synonym"
                }
            ],
            "record_id": "Q96T83-1",
            "evidence": [
                {
                    "id": "301024",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/301024"
                },
                {
                    "id": "0111844",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111844"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q04121-1",
            "uniprot_ac": "Q04121",
            "uniprot_id": "NHX1_YEAST",
            "refseq_ac": "NP_010744",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Saccharomyces cerevisiae S288C",
                    "taxid": 559292,
                    "common_name": "Baker's yeast",
                    "glygen_name": "Yeast",
                    "reference_species": "Saccharomyces cerevisiae S288C [559292]"
                }
            ],
            "protein_names": [
                {
                    "name": "Endosomal/prevacuolar sodium/hydrogen exchanger",
                    "type": "recommended"
                },
                {
                    "name": "Endosomal/prevacuolar Na(+)/H(+) exchanger",
                    "type": "synonym"
                },
                {
                    "name": "Vacuolar protein sorting-associated protein 44",
                    "type": "synonym"
                },
                {
                    "name": "bifunctional K:H/Na:H antiporter NHX1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "NHX1",
                    "type": "recommended"
                },
                {
                    "name": "D9461.40",
                    "type": "synonym"
                },
                {
                    "name": "NHA2",
                    "type": "synonym"
                },
                {
                    "name": "NHX1",
                    "type": "synonym"
                },
                {
                    "name": "VPL27",
                    "type": "synonym"
                },
                {
                    "name": "VPS44",
                    "type": "synonym"
                }
            ],
            "record_id": "Q04121-1",
            "evidence": [
                {
                    "id": "0111844",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111844"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0ABK0LXD6-1",
            "uniprot_ac": "A0ABK0LXD6",
            "uniprot_id": "A0ABK0LXD6_RAT",
            "refseq_ac": "",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Sodium/hydrogen exchanger",
                    "type": "recommended"
                }
            ],
            "gene_names": [
                {
                    "name": "Slc9a7",
                    "type": "recommended"
                }
            ],
            "record_id": "A0ABK0LXD6-1",
            "evidence": [
                {
                    "id": "0111844",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111844"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q8IPJ4-1",
            "uniprot_ac": "Q8IPJ4",
            "uniprot_id": "Q8IPJ4_DROME",
            "refseq_ac": "NP_723202",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Sodium/hydrogen exchanger",
                    "type": "recommended"
                },
                {
                    "name": "CG11328-PD",
                    "type": "synonym"
                },
                {
                    "name": "Na+/H+ hydrogen exchanger 3",
                    "type": "synonym"
                },
                {
                    "name": "Na[+]/H[+] hydrogen exchanger 3, isoform D",
                    "type": "synonym"
                },
                {
                    "name": "Nhe3-PD",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Nhe3",
                    "type": "recommended"
                },
                {
                    "name": "CG11328",
                    "type": "synonym"
                },
                {
                    "name": "DmNHE3",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG11328",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG11328",
                    "type": "synonym"
                },
                {
                    "name": "NHE3",
                    "type": "synonym"
                },
                {
                    "name": "NHE",
                    "type": "synonym"
                },
                {
                    "name": "Nhe3",
                    "type": "synonym"
                },
                {
                    "name": "nhe3",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8IPJ4-1",
            "evidence": [
                {
                    "id": "0111844",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111844"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0111844"
}