{
    "disease_id": "DOID:0111332",
    "recommended_name": {
        "id": "DOID:0111332",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0111332",
        "name": "Pitt-Hopkins-like syndrome 2",
        "description": "A syndromic intellectual disability characterized by developmental delay and intellectual disability with many patients also displaying infantile hypotonia and autistic features that has_material_basis_in compound heterozygous or homozygous mutation in the NRXN1 gene on chromosome 2p16.3."
    },
    "synonyms": [
        {
            "id": "DOID:0111332",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111332",
            "name": "PTHSL2",
            "description": ""
        },
        {
            "id": "MONDO:0013690",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013690",
            "name": "Pitt-Hopkins-like syndrome 2",
            "description": "Any Pitt-Hopkins-like syndrome in which the cause of the disease is a mutation in the NRXN1 gene."
        },
        {
            "id": "MONDO:0013690",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013690",
            "name": "NRXN1 Pitt-Hopkins-like syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0013690",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013690",
            "name": "NRXN1-related severe neurodevelopmental disorder-motor stereotypies-chronic constipation-sleep-wake cycle disturbance",
            "description": ""
        },
        {
            "id": "MONDO:0013690",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013690",
            "name": "PTHSL2",
            "description": ""
        },
        {
            "id": "MONDO:0013690",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013690",
            "name": "Pitt-Hopkins-like syndrome 2",
            "description": ""
        },
        {
            "id": "MONDO:0013690",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013690",
            "name": "Pitt-Hopkins-like syndrome caused by mutation in NRXN1",
            "description": ""
        },
        {
            "id": "MONDO:0013690",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013690",
            "name": "Pitt-Hopkins-like syndrome type 2",
            "description": ""
        },
        {
            "id": "MIM:614325",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/614325",
            "name": "Pitt-Hopkins-like syndrome 2",
            "description": "Pitt-Hopkins-like syndrome 2"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0111332"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0111332",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111332",
            "categories": []
        },
        {
            "id": "MONDO:0013690",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013690",
            "categories": []
        },
        {
            "id": "MIM:614325",
            "database": "MIM",
            "url": "https://www.omim.org/entry/614325",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A1XQX0-1",
            "uniprot_ac": "A1XQX0",
            "uniprot_id": "NR1AA_DANRE",
            "refseq_ac": "NP_001073490",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Neurexin-1a",
                    "type": "recommended"
                },
                {
                    "name": "Neurexin Ia-alpha",
                    "type": "synonym"
                },
                {
                    "name": "Neurexin-1a-alpha",
                    "type": "synonym"
                },
                {
                    "name": "neurexin 1a isoform 1 precursor",
                    "type": "synonym"
                },
                {
                    "name": "neurexin Ia-alpha",
                    "type": "synonym"
                },
                {
                    "name": "neurexin Ia-beta",
                    "type": "synonym"
                },
                {
                    "name": "neurexin-1a-alpha",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "nrxn1a",
                    "type": "recommended"
                },
                {
                    "name": "nrxn1a",
                    "type": "synonym"
                }
            ],
            "record_id": "A1XQX0-1",
            "evidence": [
                {
                    "id": "0111332",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111332"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A1XQX2-1",
            "uniprot_ac": "A1XQX2",
            "uniprot_id": "NR1BA_DANRE",
            "refseq_ac": "",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Neurexin-1b",
                    "type": "recommended"
                },
                {
                    "name": "Neurexin Ib-alpha",
                    "type": "synonym"
                },
                {
                    "name": "Neurexin-1b-alpha",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "nrxn1b",
                    "type": "recommended"
                }
            ],
            "record_id": "A1XQX2-1",
            "evidence": [
                {
                    "id": "0111332",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111332"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9CS84-1",
            "uniprot_ac": "Q9CS84",
            "uniprot_id": "NRX1A_MOUSE",
            "refseq_ac": "NP_001333891",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Neurexin-1",
                    "type": "recommended"
                },
                {
                    "name": "Neurexin I-alpha",
                    "type": "synonym"
                },
                {
                    "name": "Neurexin-1-alpha",
                    "type": "synonym"
                },
                {
                    "name": "alpha-latrotoxin receptor (calcium-dependent)",
                    "type": "synonym"
                },
                {
                    "name": "neurexin 1 NRXN1+7a",
                    "type": "synonym"
                },
                {
                    "name": "neurexin 1 NRXN1-7",
                    "type": "synonym"
                },
                {
                    "name": "neurexin-1 isoform 8",
                    "type": "synonym"
                },
                {
                    "name": "neurexin-1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Nrxn1",
                    "type": "recommended"
                },
                {
                    "name": "1700062G21Rik",
                    "type": "synonym"
                },
                {
                    "name": "9330127H16Rik",
                    "type": "synonym"
                },
                {
                    "name": "A230068P09Rik",
                    "type": "synonym"
                },
                {
                    "name": "Kiaa0578",
                    "type": "synonym"
                },
                {
                    "name": "Nrxn1",
                    "type": "synonym"
                },
                {
                    "name": "mKIAA0578",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9CS84-1",
            "evidence": [
                {
                    "id": "0111332",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111332"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9ULB1-1",
            "uniprot_ac": "Q9ULB1",
            "uniprot_id": "NRX1A_HUMAN",
            "refseq_ac": "NP_001317011",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Neurexin-1",
                    "type": "recommended"
                },
                {
                    "name": "Neurexin I-alpha",
                    "type": "synonym"
                },
                {
                    "name": "Neurexin-1-alpha",
                    "type": "synonym"
                },
                {
                    "name": "neurexin I",
                    "type": "synonym"
                },
                {
                    "name": "neurexin-1 isoform alpha5 precursor",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "NRXN1",
                    "type": "recommended"
                },
                {
                    "name": "Hs.22998",
                    "type": "synonym"
                },
                {
                    "name": "KIAA0578",
                    "type": "synonym"
                },
                {
                    "name": "NRXN1",
                    "type": "synonym"
                },
                {
                    "name": "PTHSL2",
                    "type": "synonym"
                },
                {
                    "name": "SCZD17",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9ULB1-1",
            "evidence": [
                {
                    "id": "614325",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/614325"
                },
                {
                    "id": "0111332",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111332"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q63372-2",
            "uniprot_ac": "Q63372",
            "uniprot_id": "NRX1A_RAT",
            "refseq_ac": "",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Neurexin-1",
                    "type": "recommended"
                },
                {
                    "name": "Neurexin I-alpha",
                    "type": "synonym"
                },
                {
                    "name": "Neurexin-1-alpha",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Nrxn1",
                    "type": "recommended"
                }
            ],
            "record_id": "Q63372-2",
            "evidence": [
                {
                    "id": "0111332",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111332"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q3KN41-1",
            "uniprot_ac": "Q3KN41",
            "uniprot_id": "NRX1_DROME",
            "refseq_ac": "NP_001163687",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Neurexin 1",
                    "type": "recommended"
                },
                {
                    "name": "CG7050-PB",
                    "type": "synonym"
                },
                {
                    "name": "Neurexin-1",
                    "type": "synonym"
                },
                {
                    "name": "Neurexin-like",
                    "type": "synonym"
                },
                {
                    "name": "Nrx-1-PB",
                    "type": "synonym"
                },
                {
                    "name": "drosophila neurexin",
                    "type": "synonym"
                },
                {
                    "name": "neurexin 1, isoform B",
                    "type": "synonym"
                },
                {
                    "name": "neurexin 1",
                    "type": "synonym"
                },
                {
                    "name": "neurexin",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Nrx-1",
                    "type": "recommended"
                },
                {
                    "name": "CG7050",
                    "type": "synonym"
                },
                {
                    "name": "CT21808",
                    "type": "synonym"
                },
                {
                    "name": "DNrx",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG7050",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG7050",
                    "type": "synonym"
                },
                {
                    "name": "Dnrx",
                    "type": "synonym"
                },
                {
                    "name": "Nrx-1",
                    "type": "synonym"
                },
                {
                    "name": "Nrx-I",
                    "type": "synonym"
                },
                {
                    "name": "Nrx1",
                    "type": "synonym"
                },
                {
                    "name": "Nrx",
                    "type": "synonym"
                },
                {
                    "name": "dNRXN3",
                    "type": "synonym"
                },
                {
                    "name": "dNrx",
                    "type": "synonym"
                },
                {
                    "name": "dnrx-1",
                    "type": "synonym"
                },
                {
                    "name": "dnrx1",
                    "type": "synonym"
                },
                {
                    "name": "dnrx",
                    "type": "synonym"
                },
                {
                    "name": "neurexin",
                    "type": "synonym"
                },
                {
                    "name": "nrx-1",
                    "type": "synonym"
                },
                {
                    "name": "nrx1",
                    "type": "synonym"
                },
                {
                    "name": "nrx",
                    "type": "synonym"
                }
            ],
            "record_id": "Q3KN41-1",
            "evidence": [
                {
                    "id": "0111332",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111332"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0111332"
}