{
    "disease_id": "DOID:0061156",
    "recommended_name": {
        "id": "DOID:0061156",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0061156",
        "name": "CASGID syndrome",
        "description": "A syndrome characterized by an elevated glutamate to glutamine ratio and impaired intellectual development with the variable features of infantile cataract, skin abnormalities, seizures, and progressive spastic quadriplegia that has_material_basis_in heterozygous mutation in the GLS gene, which encodes glutaminase, on chromosome 2q32."
    },
    "synonyms": [
        {
            "id": "DOID:0061156",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0061156",
            "name": "Infantile Cataract, Skin Abnormalities, Glutamate Excess, and Impaired Intellectual Development",
            "description": ""
        },
        {
            "id": "MONDO:0032685",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0032685",
            "name": "infantile cataract, skin abnormalities, glutamate excess, and impaired intellectual development",
            "description": ""
        },
        {
            "id": "MONDO:0032685",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0032685",
            "name": "infantile cataract, skin abnormalities, glutamate excess, and impaired intellectual development",
            "description": ""
        },
        {
            "id": "MONDO:0032685",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0032685",
            "name": "CASGID",
            "description": ""
        },
        {
            "id": "MONDO:0032685",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0032685",
            "name": "INFANTILE CATARACT, SKIN ABNORMALITIES, GLUTAMATE EXCESS, AND IMPAIRED INTELLECTUAL DEVELOPMENT",
            "description": ""
        },
        {
            "id": "MIM:618339",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/618339",
            "name": "CASGID syndrome",
            "description": "CASGID syndrome"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0061156"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0061156",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0061156",
            "categories": []
        },
        {
            "id": "MONDO:0032685",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0032685",
            "categories": []
        },
        {
            "id": "MIM:618339",
            "database": "MIM",
            "url": "https://www.omim.org/entry/618339",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0A8N7TDH1-1",
            "uniprot_ac": "A0A8N7TDH1",
            "uniprot_id": "A0A8N7TDH1_DANRE",
            "refseq_ac": "XP_693171",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "glutaminase",
                    "type": "recommended"
                },
                {
                    "name": "3.5.1.2",
                    "type": "synonym"
                },
                {
                    "name": "glutaminase kidney isoform, mitochondrial isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "glsb",
                    "type": "recommended"
                },
                {
                    "name": "glsb",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8N7TDH1-1",
            "evidence": [
                {
                    "id": "0061156",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0061156"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q1LWI2-1",
            "uniprot_ac": "Q1LWI2",
            "uniprot_id": "Q1LWI2_DANRE",
            "refseq_ac": "NP_001038509",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "glutaminase",
                    "type": "recommended"
                },
                {
                    "name": "3.5.1.2",
                    "type": "synonym"
                },
                {
                    "name": "glutaminase a",
                    "type": "synonym"
                },
                {
                    "name": "glutaminase, like",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "glsa",
                    "type": "recommended"
                },
                {
                    "name": "glsa",
                    "type": "synonym"
                },
                {
                    "name": "glsl",
                    "type": "synonym"
                }
            ],
            "record_id": "Q1LWI2-1",
            "evidence": [
                {
                    "id": "0061156",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0061156"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "D3Z7P3-1",
            "uniprot_ac": "D3Z7P3",
            "uniprot_id": "GLSK_MOUSE",
            "refseq_ac": "NP_001074550",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Glutaminase kidney isoform, mitochondrial",
                    "type": "recommended"
                },
                {
                    "name": "3.5.1.2",
                    "type": "synonym"
                },
                {
                    "name": "GLS",
                    "type": "synonym"
                },
                {
                    "name": "glutaminase kidney isoform, mitochondrial isoform 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Gls",
                    "type": "recommended"
                },
                {
                    "name": "6330442B14",
                    "type": "synonym"
                },
                {
                    "name": "B230365M23Rik",
                    "type": "synonym"
                },
                {
                    "name": "Gls1",
                    "type": "synonym"
                },
                {
                    "name": "Gls",
                    "type": "synonym"
                },
                {
                    "name": "Kiaa0838",
                    "type": "synonym"
                }
            ],
            "record_id": "D3Z7P3-1",
            "evidence": [
                {
                    "id": "0061156",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0061156"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "O94925-1",
            "uniprot_ac": "O94925",
            "uniprot_id": "GLSK_HUMAN",
            "refseq_ac": "NP_001243239",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Glutaminase kidney isoform, mitochondrial",
                    "type": "recommended"
                },
                {
                    "name": "3.5.1.2",
                    "type": "synonym"
                },
                {
                    "name": "GLS",
                    "type": "synonym"
                },
                {
                    "name": "K-glutaminase",
                    "type": "synonym"
                },
                {
                    "name": "L-glutamine amidohydrolase",
                    "type": "synonym"
                },
                {
                    "name": "glutaminase C",
                    "type": "synonym"
                },
                {
                    "name": "glutaminase kidney isoform, mitochondrial isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "glutaminase, phosphate-activated",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "GLS",
                    "type": "recommended"
                },
                {
                    "name": "AAD20",
                    "type": "synonym"
                },
                {
                    "name": "CASGID",
                    "type": "synonym"
                },
                {
                    "name": "DEE71",
                    "type": "synonym"
                },
                {
                    "name": "EIEE71",
                    "type": "synonym"
                },
                {
                    "name": "GAC",
                    "type": "synonym"
                },
                {
                    "name": "GAM",
                    "type": "synonym"
                },
                {
                    "name": "GDPAG",
                    "type": "synonym"
                },
                {
                    "name": "GLS1",
                    "type": "synonym"
                },
                {
                    "name": "GLS",
                    "type": "synonym"
                },
                {
                    "name": "KGA",
                    "type": "synonym"
                },
                {
                    "name": "KIAA0838",
                    "type": "synonym"
                }
            ],
            "record_id": "O94925-1",
            "evidence": [
                {
                    "id": "618339",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/618339"
                },
                {
                    "id": "0061156",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0061156"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P13264-1",
            "uniprot_ac": "P13264",
            "uniprot_id": "GLSK_RAT",
            "refseq_ac": "NP_036701",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Glutaminase kidney isoform, mitochondrial",
                    "type": "recommended"
                },
                {
                    "name": "3.5.1.2",
                    "type": "synonym"
                },
                {
                    "name": "GLS",
                    "type": "synonym"
                },
                {
                    "name": "K-glutaminase",
                    "type": "synonym"
                },
                {
                    "name": "L-glutamine amidohydrolase",
                    "type": "synonym"
                },
                {
                    "name": "glutaminase kidney isoform, mitochondrial isoform a",
                    "type": "synonym"
                },
                {
                    "name": "kidney-type glutaminase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Gls",
                    "type": "recommended"
                },
                {
                    "name": "Gls",
                    "type": "synonym"
                },
                {
                    "name": "Glut",
                    "type": "synonym"
                },
                {
                    "name": "RATGLUT",
                    "type": "synonym"
                }
            ],
            "record_id": "P13264-1",
            "evidence": [
                {
                    "id": "0061156",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0061156"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P12821-1",
            "uniprot_ac": "P12821",
            "uniprot_id": "ACE_HUMAN",
            "refseq_ac": "NP_000780",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Angiotensin-converting enzyme",
                    "type": "recommended"
                },
                {
                    "name": "3.4.15.1",
                    "type": "synonym"
                },
                {
                    "name": "ACE",
                    "type": "synonym"
                },
                {
                    "name": "CD143 antigen",
                    "type": "synonym"
                },
                {
                    "name": "Dipeptidyl carboxypeptidase I",
                    "type": "synonym"
                },
                {
                    "name": "Kininase II",
                    "type": "synonym"
                },
                {
                    "name": "angiotensin I converting enzyme (peptidyl-dipeptidase A) 1",
                    "type": "synonym"
                },
                {
                    "name": "angiotensin-converting enzyme isoform 1 precursor",
                    "type": "synonym"
                },
                {
                    "name": "carboxycathepsin",
                    "type": "synonym"
                },
                {
                    "name": "dipeptidyl carboxypeptidase 1",
                    "type": "synonym"
                },
                {
                    "name": "dipeptidyl carboxypeptidase I",
                    "type": "synonym"
                },
                {
                    "name": "kininase II",
                    "type": "synonym"
                },
                {
                    "name": "peptidase P",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "ACE",
                    "type": "recommended"
                },
                {
                    "name": "ACE1",
                    "type": "synonym"
                },
                {
                    "name": "ACE",
                    "type": "synonym"
                },
                {
                    "name": "CD143",
                    "type": "synonym"
                },
                {
                    "name": "DCP1",
                    "type": "synonym"
                },
                {
                    "name": "DCP",
                    "type": "synonym"
                }
            ],
            "record_id": "P12821-1",
            "evidence": [
                {
                    "id": "0061156",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0061156"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0061156"
}