{
    "disease_id": "DOID:0081381",
    "recommended_name": {
        "id": "DOID:0081381",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0081381",
        "name": "juvenile amyotrophic lateral sclerosis type 27",
        "description": "An amyotrophic lateral sclerosis that is characterized by early childhood-onset lower extremity spasticity manifesting as toe walking and gait abnormalities, followed by progressive lower motor neuron-mediated weakness without sensory signs or symptoms and that has_material_basis_in heterozygous mutation in the SPTLC1 gene on chromosome 9q22."
    },
    "synonyms": [
        {
            "id": "MONDO:0859529",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0859529",
            "name": "amyotrophic lateral sclerosis 27, juvenile",
            "description": ""
        },
        {
            "id": "MIM:620285",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/620285",
            "name": "Amyotrophic lateral sclerosis 27, juvenile",
            "description": "Amyotrophic lateral sclerosis 27, juvenile"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0081381"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0081381",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0081381",
            "categories": []
        },
        {
            "id": "MONDO:0859529",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0859529",
            "categories": []
        },
        {
            "id": "MIM:620285",
            "database": "MIM",
            "url": "https://www.omim.org/entry/620285",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "O35704-1",
            "uniprot_ac": "O35704",
            "uniprot_id": "SPTC1_MOUSE",
            "refseq_ac": "NP_033295",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Serine palmitoyltransferase 1",
                    "type": "recommended"
                },
                {
                    "name": "2.3.1.50",
                    "type": "synonym"
                },
                {
                    "name": "LCB 1",
                    "type": "synonym"
                },
                {
                    "name": "Long chain base biosynthesis protein 1",
                    "type": "synonym"
                },
                {
                    "name": "SPT 1",
                    "type": "synonym"
                },
                {
                    "name": "SPT1",
                    "type": "synonym"
                },
                {
                    "name": "Serine-palmitoyl-CoA transferase 1",
                    "type": "synonym"
                },
                {
                    "name": "long chain base biosynthesis protein 1",
                    "type": "synonym"
                },
                {
                    "name": "serine palmitoyltransferase 1 isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "serine palmitoyltransferase 1",
                    "type": "synonym"
                },
                {
                    "name": "serine-palmitoyl-CoA transferase 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Sptlc1",
                    "type": "recommended"
                },
                {
                    "name": "E030036H05",
                    "type": "synonym"
                },
                {
                    "name": "Lcb1",
                    "type": "synonym"
                },
                {
                    "name": "SPT1",
                    "type": "synonym"
                },
                {
                    "name": "Sptlc1",
                    "type": "synonym"
                }
            ],
            "record_id": "O35704-1",
            "evidence": [
                {
                    "id": "0081381",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081381"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "O15269-1",
            "uniprot_ac": "O15269",
            "uniprot_id": "SPTC1_HUMAN",
            "refseq_ac": "NP_001268232",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Serine palmitoyltransferase 1",
                    "type": "recommended"
                },
                {
                    "name": "2.3.1.50",
                    "type": "synonym"
                },
                {
                    "name": "LCB 1",
                    "type": "synonym"
                },
                {
                    "name": "Long chain base biosynthesis protein 1",
                    "type": "synonym"
                },
                {
                    "name": "SPT 1",
                    "type": "synonym"
                },
                {
                    "name": "SPT1",
                    "type": "synonym"
                },
                {
                    "name": "Serine-palmitoyl-CoA transferase 1",
                    "type": "synonym"
                },
                {
                    "name": "long chain base biosynthesis protein 1",
                    "type": "synonym"
                },
                {
                    "name": "serine C-palmitoyltransferase",
                    "type": "synonym"
                },
                {
                    "name": "serine palmitoyltransferase 1 isoform c",
                    "type": "synonym"
                },
                {
                    "name": "serine-palmitoyl-CoA transferase 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "SPTLC1",
                    "type": "recommended"
                },
                {
                    "name": "ALS27",
                    "type": "synonym"
                },
                {
                    "name": "HSAN1",
                    "type": "synonym"
                },
                {
                    "name": "HSN1",
                    "type": "synonym"
                },
                {
                    "name": "LBC1",
                    "type": "synonym"
                },
                {
                    "name": "LCB1",
                    "type": "synonym"
                },
                {
                    "name": "SPT1",
                    "type": "synonym"
                },
                {
                    "name": "SPTI",
                    "type": "synonym"
                },
                {
                    "name": "SPTLC1",
                    "type": "synonym"
                }
            ],
            "record_id": "O15269-1",
            "evidence": [
                {
                    "id": "620285",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/620285"
                },
                {
                    "id": "0081381",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081381"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P25045-1",
            "uniprot_ac": "P25045",
            "uniprot_id": "SPTC1_YEAST",
            "refseq_ac": "NP_014025",
            "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": "Serine palmitoyltransferase 1",
                    "type": "recommended"
                },
                {
                    "name": "2.3.1.50",
                    "type": "synonym"
                },
                {
                    "name": "Long chain base biosynthesis protein 1",
                    "type": "synonym"
                },
                {
                    "name": "SPT 1",
                    "type": "synonym"
                },
                {
                    "name": "SPT1",
                    "type": "synonym"
                },
                {
                    "name": "serine C-palmitoyltransferase LCB1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "LCB1",
                    "type": "recommended"
                },
                {
                    "name": "END8",
                    "type": "synonym"
                },
                {
                    "name": "LCB1",
                    "type": "synonym"
                },
                {
                    "name": "TSC2",
                    "type": "synonym"
                }
            ],
            "record_id": "P25045-1",
            "evidence": [
                {
                    "id": "0081381",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081381"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "D4A2H2-1",
            "uniprot_ac": "D4A2H2",
            "uniprot_id": "SPTC1_RAT",
            "refseq_ac": "NP_001101876",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Serine palmitoyltransferase 1",
                    "type": "recommended"
                },
                {
                    "name": "2.3.1.50",
                    "type": "synonym"
                },
                {
                    "name": "LCB 1",
                    "type": "synonym"
                },
                {
                    "name": "Long chain base biosynthesis protein 1",
                    "type": "synonym"
                },
                {
                    "name": "SPT 1",
                    "type": "synonym"
                },
                {
                    "name": "SPT1",
                    "type": "synonym"
                },
                {
                    "name": "Serine-palmitoyl-CoA transferase 1",
                    "type": "synonym"
                },
                {
                    "name": "long chain base biosynthesis protein 1",
                    "type": "synonym"
                },
                {
                    "name": "serine palmitoyltransferase 1",
                    "type": "synonym"
                },
                {
                    "name": "serine palmitoyltransferase subunit 1",
                    "type": "synonym"
                },
                {
                    "name": "serine-palmitoyl-CoA transferase 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Sptlc1",
                    "type": "recommended"
                },
                {
                    "name": "LCB 1",
                    "type": "synonym"
                },
                {
                    "name": "Lcb1",
                    "type": "synonym"
                },
                {
                    "name": "RGD1306617",
                    "type": "synonym"
                },
                {
                    "name": "SPT 1",
                    "type": "synonym"
                },
                {
                    "name": "Spt1",
                    "type": "synonym"
                },
                {
                    "name": "Sptlc1",
                    "type": "synonym"
                },
                {
                    "name": "rCG_44191",
                    "type": "synonym"
                }
            ],
            "record_id": "D4A2H2-1",
            "evidence": [
                {
                    "id": "0081381",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081381"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0081381"
}