{
    "disease_id": "DOID:0081177",
    "recommended_name": {
        "id": "DOID:0081177",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0081177",
        "name": "autosomal recessive intellectual developmental disorder 1",
        "description": "An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous mutation in the gene encoding neurotrypsin (PRSS12) on chromosome 4q25."
    },
    "synonyms": [
        {
            "id": "MONDO:0009580",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009580",
            "name": "intellectual disability, autosomal recessive 1",
            "description": "Any autosomal recessive non-syndromic intellectual disability in which the cause of the disease is a mutation in the PRSS12 gene."
        },
        {
            "id": "MONDO:0009580",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009580",
            "name": "PRSS12 autosomal recessive non-syndromic intellectual disability",
            "description": ""
        },
        {
            "id": "MONDO:0009580",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009580",
            "name": "autosomal recessive non-syndromic intellectual disability caused by mutation in PRSS12",
            "description": ""
        },
        {
            "id": "MONDO:0009580",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009580",
            "name": "intellectual disability, autosomal recessive 1",
            "description": ""
        },
        {
            "id": "MONDO:0009580",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009580",
            "name": "intellectual disability, autosomal recessive type 1",
            "description": ""
        },
        {
            "id": "MONDO:0009580",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009580",
            "name": "mental retardation, autosomal recessive type 1",
            "description": ""
        },
        {
            "id": "MONDO:0009580",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009580",
            "name": "MRT1",
            "description": ""
        },
        {
            "id": "MONDO:0009580",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009580",
            "name": "mental retardation, autosomal recessive 1",
            "description": ""
        },
        {
            "id": "MIM:249500",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/249500",
            "name": "Intellectual developmental disorder, autosomal recessive 1",
            "description": "Intellectual developmental disorder, autosomal recessive 1"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0081177"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0081177",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0081177",
            "categories": []
        },
        {
            "id": "MONDO:0009580",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009580",
            "categories": []
        },
        {
            "id": "MIM:249500",
            "database": "MIM",
            "url": "https://www.omim.org/entry/249500",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "O08762-1",
            "uniprot_ac": "O08762",
            "uniprot_id": "NETR_MOUSE",
            "refseq_ac": "NP_032965",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Neurotrypsin",
                    "type": "recommended"
                },
                {
                    "name": "3.4.21.-",
                    "type": "synonym"
                },
                {
                    "name": "BSSP-3",
                    "type": "synonym"
                },
                {
                    "name": "Brain-specific serine protease 3",
                    "type": "synonym"
                },
                {
                    "name": "Motopsin",
                    "type": "synonym"
                },
                {
                    "name": "Serine protease 12",
                    "type": "synonym"
                },
                {
                    "name": "brain-specific serine protease 3",
                    "type": "synonym"
                },
                {
                    "name": "neurotrypsin precursor",
                    "type": "synonym"
                },
                {
                    "name": "neurotrypsin",
                    "type": "synonym"
                },
                {
                    "name": "protease, serine 12 neurotrypsin (motopsin)",
                    "type": "synonym"
                },
                {
                    "name": "serine protease 12",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Prss12",
                    "type": "recommended"
                },
                {
                    "name": "Bssp-3",
                    "type": "synonym"
                },
                {
                    "name": "Bssp3",
                    "type": "synonym"
                },
                {
                    "name": "Prss12",
                    "type": "synonym"
                },
                {
                    "name": "motopsin",
                    "type": "synonym"
                }
            ],
            "record_id": "O08762-1",
            "evidence": [
                {
                    "id": "0081177",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081177"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P56730-1",
            "uniprot_ac": "P56730",
            "uniprot_id": "NETR_HUMAN",
            "refseq_ac": "NP_003610",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Neurotrypsin",
                    "type": "recommended"
                },
                {
                    "name": "3.4.21.-",
                    "type": "synonym"
                },
                {
                    "name": "Leydin",
                    "type": "synonym"
                },
                {
                    "name": "Motopsin",
                    "type": "synonym"
                },
                {
                    "name": "Serine protease 12",
                    "type": "synonym"
                },
                {
                    "name": "brain-specific serine protease 3",
                    "type": "synonym"
                },
                {
                    "name": "leydin",
                    "type": "synonym"
                },
                {
                    "name": "neurotrypsin isoform 1 precursor",
                    "type": "synonym"
                },
                {
                    "name": "protease, serine 12",
                    "type": "synonym"
                },
                {
                    "name": "protease, serine, 12 (neurotrypsin, motopsin)",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "PRSS12",
                    "type": "recommended"
                },
                {
                    "name": "BSSP-3",
                    "type": "synonym"
                },
                {
                    "name": "BSSP3",
                    "type": "synonym"
                },
                {
                    "name": "MRT1",
                    "type": "synonym"
                },
                {
                    "name": "PRSS12",
                    "type": "synonym"
                }
            ],
            "record_id": "P56730-1",
            "evidence": [
                {
                    "id": "249500",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/249500"
                },
                {
                    "id": "0081177",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081177"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "G3V801-1",
            "uniprot_ac": "G3V801",
            "uniprot_id": "NETR_RAT",
            "refseq_ac": "NP_445956",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Neurotrypsin",
                    "type": "recommended"
                },
                {
                    "name": "3.4.21.-",
                    "type": "synonym"
                },
                {
                    "name": "Serine protease 12",
                    "type": "synonym"
                },
                {
                    "name": "neurotrypsin precursor",
                    "type": "synonym"
                },
                {
                    "name": "neurotrypsin",
                    "type": "synonym"
                },
                {
                    "name": "peptidase, serine, 12 (neurotrypsin, motopsin)",
                    "type": "synonym"
                },
                {
                    "name": "protease, serine 12",
                    "type": "synonym"
                },
                {
                    "name": "protease, serine, 12 neurotrypsin (motopsin)",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Prss12",
                    "type": "recommended"
                },
                {
                    "name": "Nt",
                    "type": "synonym"
                },
                {
                    "name": "Prss12",
                    "type": "synonym"
                }
            ],
            "record_id": "G3V801-1",
            "evidence": [
                {
                    "id": "0081177",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081177"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9VSU2-1",
            "uniprot_ac": "Q9VSU2",
            "uniprot_id": "Q9VSU2_DROME",
            "refseq_ac": "NP_648288",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "3.4.21.-",
                    "type": "synonym"
                },
                {
                    "name": "CG4821-PG",
                    "type": "synonym"
                },
                {
                    "name": "Tequila, isoform G",
                    "type": "synonym"
                },
                {
                    "name": "teq-PG",
                    "type": "synonym"
                },
                {
                    "name": "tequila, isoform G",
                    "type": "synonym"
                },
                {
                    "name": "tequila",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "teq",
                    "type": "recommended"
                },
                {
                    "name": "BEST:CK00198",
                    "type": "synonym"
                },
                {
                    "name": "BEST:GH18038",
                    "type": "synonym"
                },
                {
                    "name": "CG18153",
                    "type": "synonym"
                },
                {
                    "name": "CG18403",
                    "type": "synonym"
                },
                {
                    "name": "CG4821",
                    "type": "synonym"
                },
                {
                    "name": "CG4948",
                    "type": "synonym"
                },
                {
                    "name": "CK00198",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG4821",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG4821",
                    "type": "synonym"
                },
                {
                    "name": "SP72",
                    "type": "synonym"
                },
                {
                    "name": "Teq",
                    "type": "synonym"
                },
                {
                    "name": "anon-EST:ParkEST161",
                    "type": "synonym"
                },
                {
                    "name": "graal",
                    "type": "synonym"
                },
                {
                    "name": "teq",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9VSU2-1",
            "evidence": [
                {
                    "id": "0081177",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081177"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0081177"
}