{
    "disease_id": "DOID:0060175",
    "recommended_name": {
        "id": "DOID:0060175",
        "resource": "Disease Ontology",
        "url": "http://disease-ontology.org/term/DOID:0060175",
        "name": "succinic semialdehyde dehydrogenase deficiency",
        "description": "A gamma-amino butyric acid metabolism disorder that is characterized by a deficiency of succinic semialdehyde dehydrogenase resulting in elevated levels of gamma-hydroxybutyric acid."
    },
    "synonyms": [
        {
            "id": "DOID:0060175",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0060175",
            "name": "4-hydroxybutyric aciduria",
            "description": ""
        },
        {
            "id": "DOID:0060175",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0060175",
            "name": "SSADH",
            "description": ""
        },
        {
            "id": "DOID:0060175",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0060175",
            "name": "gamma-hydroxybutyric aciduria",
            "description": ""
        },
        {
            "id": "MONDO:0010083",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010083",
            "name": "succinic semialdehyde dehydrogenase deficiency",
            "description": "Succinic semialdehyde dehydrogenase (SSADH) deficiency is a rare neurometabolic disorder of gamma-aminobutyric acid (GABA) metabolism with a nonspecific clinical presentation (ranging from mild to severe) with the most frequent symptoms being cognitive impairment with prominent deficit in expressive language, hypotonia, ataxia, epilepsy, and behavioral dysregulation."
        },
        {
            "id": "MONDO:0010083",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010083",
            "name": "4-hydroxybutyric aciduria",
            "description": ""
        },
        {
            "id": "MONDO:0010083",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010083",
            "name": "SSADH",
            "description": ""
        },
        {
            "id": "MONDO:0010083",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010083",
            "name": "SSADH deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0010083",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010083",
            "name": "gamma-hydroxybutyric aciduria",
            "description": ""
        },
        {
            "id": "MONDO:0010083",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010083",
            "name": "succinic semialdehyde dehydrogenase deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0010083",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010083",
            "name": "GABA metabolic defect",
            "description": ""
        },
        {
            "id": "MONDO:0010083",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010083",
            "name": "SSADHD",
            "description": ""
        },
        {
            "id": "MONDO:0010083",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010083",
            "name": "Ssadh deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0010083",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010083",
            "name": "gamma-hydroxybutyricaciduria",
            "description": ""
        },
        {
            "id": "MIM:271980",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/271980",
            "name": "Succinic semialdehyde dehydrogenase deficiency",
            "description": "Succinic semialdehyde dehydrogenase deficiency"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0060175"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0060175",
            "database": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0060175",
            "categories": []
        },
        {
            "id": "MONDO:0010083",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010083",
            "categories": []
        },
        {
            "id": "MIM:271980",
            "database": "MIM",
            "url": "https://www.omim.org/entry/271980",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q9VBP6-1",
            "uniprot_ac": "Q9VBP6",
            "uniprot_id": "Q9VBP6_DROME",
            "refseq_ac": "NP_001014665",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Succinate-semialdehyde dehydrogenase",
                    "resource": "UniProtKB",
                    "type": "recommended"
                },
                {
                    "name": "1.2.1.24",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "CG4685-PD; Ssadh-PD; succinic semialdehyde dehydrogenase; Succinate-semialdehyde dehydrogenase",
                    "resource": "RefSeq",
                    "type": "synonym"
                },
                {
                    "name": "succinic semialdehyde dehydrogenase, isoform D",
                    "resource": "RefSeq",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Ssadh",
                    "resource": "UniProtKB",
                    "type": "recommended"
                },
                {
                    "name": "CG4685",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "DmSSADH",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG4685",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG4685",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "Q9VBP6",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "SSADH",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "Ssadh",
                    "resource": "RefSeq",
                    "type": "synonym"
                },
                {
                    "name": "anon-WO0118547.428; CG4685; Dmel\\CG4685; DmSSADH; Q9VBP6; ssadh; SSADH",
                    "resource": "RefSeq",
                    "type": "synonym"
                },
                {
                    "name": "anon-WO0118547.428",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "ssadh",
                    "resource": "UniProtKB",
                    "type": "synonym"
                }
            ],
            "evidence": [
                {
                    "id": "0060175",
                    "database": "Alliance of Genome Resources",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060175"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q8BWF0-1",
            "uniprot_ac": "Q8BWF0",
            "uniprot_id": "SSDH_MOUSE",
            "refseq_ac": "NP_766120",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Succinate-semialdehyde dehydrogenase, mitochondrial",
                    "resource": "UniProtKB",
                    "type": "recommended"
                },
                {
                    "name": "1.2.1.24",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "Aldehyde dehydrogenase family 5 member A1",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "NAD(+)-dependent succinic semialdehyde dehydrogenase",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "succinate-semialdehyde dehydrogenase, mitochondrial precursor",
                    "resource": "RefSeq",
                    "type": "synonym"
                },
                {
                    "name": "succinate-semialdehyde dehydrogenase, mitochondrial; aldehyde dehydrogenase family 5 member A1; NAD(+)-dependent succinic semialdehyde dehydrogenase; aldehyde dehydrogenase 1, mitochondrial; aldehyde dehydrogenase family 5, subfamily A1",
                    "resource": "RefSeq",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Aldh5a1",
                    "resource": "UniProtKB",
                    "type": "recommended"
                },
                {
                    "name": "6330403E24Rik; Ahd-1; Ahd1; D630032B01Rik; SSADH; Ssdh1",
                    "resource": "RefSeq",
                    "type": "synonym"
                },
                {
                    "name": "Aldh5a1",
                    "resource": "RefSeq",
                    "type": "synonym"
                }
            ],
            "evidence": [
                {
                    "id": "0060175",
                    "database": "Alliance of Genome Resources",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060175"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P38067-1",
            "uniprot_ac": "P38067",
            "uniprot_id": "SSDH_YEAST",
            "refseq_ac": "NP_009560",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Saccharomyces cerevisiae S288C",
                    "taxid": 559292,
                    "common_name": "Baker's yeast",
                    "glygen_name": "Yeast",
                    "reference_species": "Saccharomyces cerevisiae S288C [559292]"
                }
            ],
            "protein_names": [
                {
                    "name": "Succinate-semialdehyde dehydrogenase [NADP(+)]",
                    "resource": "UniProtKB",
                    "type": "recommended"
                },
                {
                    "name": "1.2.1.16",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "SSA dehydrogenase",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "SSADH",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "SSDH",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "succinate-semialdehyde dehydrogenase (NAD(P)(+))",
                    "resource": "RefSeq",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "UGA2",
                    "resource": "UniProtKB",
                    "type": "recommended"
                },
                {
                    "name": "UGA2",
                    "resource": "RefSeq",
                    "type": "synonym"
                },
                {
                    "name": "UGA5",
                    "resource": "RefSeq",
                    "type": "synonym"
                },
                {
                    "name": "UGA5",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "YBR0112",
                    "resource": "UniProtKB",
                    "type": "synonym"
                }
            ],
            "evidence": [
                {
                    "id": "0060175",
                    "database": "Alliance of Genome Resources",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060175"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P51649-1",
            "uniprot_ac": "P51649",
            "uniprot_id": "SSDH_HUMAN",
            "refseq_ac": "NP_001071",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Succinate-semialdehyde dehydrogenase, mitochondrial",
                    "resource": "UniProtKB",
                    "type": "recommended"
                },
                {
                    "name": "1.2.1.24",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "Aldehyde dehydrogenase family 5 member A1",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "NAD(+)-dependent succinic semialdehyde dehydrogenase",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "mitochondrial succinate semialdehyde dehydrogenase; NAD(+)-dependent succinic semialdehyde dehydrogenase",
                    "resource": "RefSeq",
                    "type": "synonym"
                },
                {
                    "name": "succinate-semialdehyde dehydrogenase, mitochondrial isoform 2 precursor",
                    "resource": "RefSeq",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "ALDH5A1",
                    "resource": "UniProtKB",
                    "type": "recommended"
                },
                {
                    "name": "ALDH5A1",
                    "resource": "RefSeq",
                    "type": "synonym"
                },
                {
                    "name": "SSADH; SSDH",
                    "resource": "RefSeq",
                    "type": "synonym"
                },
                {
                    "name": "SSADH",
                    "resource": "UniProtKB",
                    "type": "synonym"
                }
            ],
            "evidence": [
                {
                    "id": "0060175",
                    "database": "Alliance of Genome Resources",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060175"
                },
                {
                    "id": "271980",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/271980"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0A0R4IIB7-1",
            "uniprot_ac": "A0A0R4IIB7",
            "uniprot_id": "A0A0R4IIB7_DANRE",
            "refseq_ac": "XP_009290813",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Succinate-semialdehyde dehydrogenase",
                    "resource": "UniProtKB",
                    "type": "recommended"
                },
                {
                    "name": "1.2.1.24",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "succinate-semialdehyde dehydrogenase, mitochondrial isoform X1",
                    "resource": "RefSeq",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "aldh5a1",
                    "resource": "UniProtKB",
                    "type": "recommended"
                },
                {
                    "name": "aldh5a1",
                    "resource": "RefSeq",
                    "type": "synonym"
                }
            ],
            "evidence": [
                {
                    "id": "0060175",
                    "database": "Alliance of Genome Resources",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060175"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P51650-1",
            "uniprot_ac": "P51650",
            "uniprot_id": "SSDH_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": "Succinate-semialdehyde dehydrogenase, mitochondrial",
                    "resource": "UniProtKB",
                    "type": "recommended"
                },
                {
                    "name": "1.2.1.24",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "Aldehyde dehydrogenase family 5 member A1",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "NAD(+)-dependent succinic semialdehyde dehydrogenase",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "SSADH",
                    "resource": "UniProtKB",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Aldh5a1",
                    "resource": "UniProtKB",
                    "type": "recommended"
                },
                {
                    "name": "Ssadh",
                    "resource": "UniProtKB",
                    "type": "synonym"
                }
            ],
            "evidence": [
                {
                    "id": "0060175",
                    "database": "Alliance of Genome Resources",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060175"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0060175"
}