{
    "disease_id": "DOID:0050544",
    "recommended_name": {
        "id": "DOID:0050544",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0050544",
        "name": "hypermethioninemia",
        "description": "An amino acid metabolic disorder that involves an excess of the amino acid methionine, in the blood. This condition can occur when methionine is not broken down properly in the body."
    },
    "synonyms": [],
    "children": [
        {
            "id": "DOID:0111037",
            "label": "glycine N-methyltransferase deficiency",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0111038",
            "label": "hypermethioninemia due to adenosine kinase deficiency",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0111039",
            "label": "hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase",
            "link_status": true,
            "children": []
        }
    ],
    "id_list": [
        "DOID:0111038",
        "DOID:0111039",
        "DOID:0111037",
        "DOID:0050544"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0050544",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0050544",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q91X83-1",
            "uniprot_ac": "Q91X83",
            "uniprot_id": "METK1_MOUSE",
            "refseq_ac": "NP_598414",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "S-adenosylmethionine synthase isoform type-1",
                    "type": "recommended"
                },
                {
                    "name": "2.5.1.6",
                    "type": "synonym"
                },
                {
                    "name": "AdoMet synthase 1",
                    "type": "synonym"
                },
                {
                    "name": "MAT 1",
                    "type": "synonym"
                },
                {
                    "name": "Methionine adenosyltransferase 1",
                    "type": "synonym"
                },
                {
                    "name": "S-adenosylmethionine synthase isoform type-1",
                    "type": "synonym"
                },
                {
                    "name": "adoMet synthetase 1",
                    "type": "synonym"
                },
                {
                    "name": "methionine adenosyltransferase I, alpha",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Mat1a",
                    "type": "recommended"
                },
                {
                    "name": "AdoMet",
                    "type": "synonym"
                },
                {
                    "name": "Ams",
                    "type": "synonym"
                },
                {
                    "name": "MATA1",
                    "type": "synonym"
                },
                {
                    "name": "MAT",
                    "type": "synonym"
                },
                {
                    "name": "Mat1a",
                    "type": "synonym"
                },
                {
                    "name": "SAMS1",
                    "type": "synonym"
                },
                {
                    "name": "SAMS",
                    "type": "synonym"
                }
            ],
            "record_id": "Q91X83-1",
            "evidence": [
                {
                    "id": "0050544",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050544"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P10659-1",
            "uniprot_ac": "P10659",
            "uniprot_id": "METK1_YEAST",
            "refseq_ac": "NP_013281",
            "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": "S-adenosylmethionine synthase 1",
                    "type": "recommended"
                },
                {
                    "name": "2.5.1.6",
                    "type": "synonym"
                },
                {
                    "name": "AdoMet synthase 1",
                    "type": "synonym"
                },
                {
                    "name": "MAT 1",
                    "type": "synonym"
                },
                {
                    "name": "Methionine adenosyltransferase 1",
                    "type": "synonym"
                },
                {
                    "name": "methionine adenosyltransferase SAM1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "SAM1",
                    "type": "recommended"
                },
                {
                    "name": "ETH10",
                    "type": "synonym"
                },
                {
                    "name": "L9470.9",
                    "type": "synonym"
                },
                {
                    "name": "SAM1",
                    "type": "synonym"
                }
            ],
            "record_id": "P10659-1",
            "evidence": [
                {
                    "id": "0050544",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050544"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P19358-1",
            "uniprot_ac": "P19358",
            "uniprot_id": "METK2_YEAST",
            "refseq_ac": "NP_010790",
            "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": "S-adenosylmethionine synthase 2",
                    "type": "recommended"
                },
                {
                    "name": "2.5.1.6",
                    "type": "synonym"
                },
                {
                    "name": "AdoMet synthase 2",
                    "type": "synonym"
                },
                {
                    "name": "MAT 2",
                    "type": "synonym"
                },
                {
                    "name": "Methionine adenosyltransferase 2",
                    "type": "synonym"
                },
                {
                    "name": "methionine adenosyltransferase SAM2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "SAM2",
                    "type": "recommended"
                },
                {
                    "name": "D9719.8",
                    "type": "synonym"
                },
                {
                    "name": "ETH2",
                    "type": "synonym"
                },
                {
                    "name": "SAM2",
                    "type": "synonym"
                }
            ],
            "record_id": "P19358-1",
            "evidence": [
                {
                    "id": "0050544",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050544"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P13444-1",
            "uniprot_ac": "P13444",
            "uniprot_id": "METK1_RAT",
            "refseq_ac": "NP_036992",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "S-adenosylmethionine synthase isoform type-1",
                    "type": "recommended"
                },
                {
                    "name": "2.5.1.6",
                    "type": "synonym"
                },
                {
                    "name": "AdoMet synthase 1",
                    "type": "synonym"
                },
                {
                    "name": "MAT 1",
                    "type": "synonym"
                },
                {
                    "name": "MAT-I/III",
                    "type": "synonym"
                },
                {
                    "name": "Methionine adenosyltransferase 1",
                    "type": "synonym"
                },
                {
                    "name": "Methionine adenosyltransferase I/III",
                    "type": "synonym"
                },
                {
                    "name": "S - adenosylmethionine synthetase",
                    "type": "synonym"
                },
                {
                    "name": "S-adenosylmethionine synthase isoform type-1",
                    "type": "synonym"
                },
                {
                    "name": "adoMet synthase 1",
                    "type": "synonym"
                },
                {
                    "name": "adoMet synthetase 1",
                    "type": "synonym"
                },
                {
                    "name": "methionine adenosyltransferase 1",
                    "type": "synonym"
                },
                {
                    "name": "methionine adenosyltransferase I, alpha",
                    "type": "synonym"
                },
                {
                    "name": "methionine adenosyltransferase I/III",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Mat1a",
                    "type": "recommended"
                },
                {
                    "name": "AdoMet",
                    "type": "synonym"
                },
                {
                    "name": "Ams1",
                    "type": "synonym"
                },
                {
                    "name": "Mat1a",
                    "type": "synonym"
                },
                {
                    "name": "SADE",
                    "type": "synonym"
                },
                {
                    "name": "SAS",
                    "type": "synonym"
                }
            ],
            "record_id": "P13444-1",
            "evidence": [
                {
                    "id": "0050544",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050544"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P40320-1",
            "uniprot_ac": "P40320",
            "uniprot_id": "METK_DROME",
            "refseq_ac": "NP_524923",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "S-adenosylmethionine synthase",
                    "type": "recommended"
                },
                {
                    "name": "2.5.1.6",
                    "type": "synonym"
                },
                {
                    "name": "AdoMet synthase",
                    "type": "synonym"
                },
                {
                    "name": "CG2674-PC",
                    "type": "synonym"
                },
                {
                    "name": "MAT",
                    "type": "synonym"
                },
                {
                    "name": "Methionine adenosyltransferase",
                    "type": "synonym"
                },
                {
                    "name": "S-Adenosylmethionine synthetase",
                    "type": "synonym"
                },
                {
                    "name": "S-adenosylmethionine synthetase, isoform C",
                    "type": "synonym"
                },
                {
                    "name": "SAM synthase",
                    "type": "synonym"
                },
                {
                    "name": "Sam-S-PC",
                    "type": "synonym"
                },
                {
                    "name": "methionine adenosyl transferase",
                    "type": "synonym"
                },
                {
                    "name": "minute (2) 21AB",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Sams",
                    "type": "recommended"
                },
                {
                    "name": "CG2674",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG2674",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG2674",
                    "type": "synonym"
                },
                {
                    "name": "M(2)21A-B",
                    "type": "synonym"
                },
                {
                    "name": "M(2)21AB",
                    "type": "synonym"
                },
                {
                    "name": "METK",
                    "type": "synonym"
                },
                {
                    "name": "SAM",
                    "type": "synonym"
                },
                {
                    "name": "Sam-S",
                    "type": "synonym"
                },
                {
                    "name": "SamS",
                    "type": "synonym"
                },
                {
                    "name": "Sams",
                    "type": "synonym"
                },
                {
                    "name": "Su(z)5",
                    "type": "synonym"
                },
                {
                    "name": "m(2)21ab",
                    "type": "synonym"
                },
                {
                    "name": "sams",
                    "type": "synonym"
                }
            ],
            "record_id": "P40320-1",
            "evidence": [
                {
                    "id": "0050544",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050544"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P32926-1",
            "uniprot_ac": "P32926",
            "uniprot_id": "DSG3_HUMAN",
            "refseq_ac": "NP_001935",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Desmoglein-3",
                    "type": "recommended"
                },
                {
                    "name": "130 kDa pemphigus vulgaris antigen",
                    "type": "synonym"
                },
                {
                    "name": "Cadherin family member 6",
                    "type": "synonym"
                },
                {
                    "name": "PVA",
                    "type": "synonym"
                },
                {
                    "name": "cadherin family member 6",
                    "type": "synonym"
                },
                {
                    "name": "desmoglein-3 preproprotein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "DSG3",
                    "type": "recommended"
                },
                {
                    "name": "ABOLM",
                    "type": "synonym"
                },
                {
                    "name": "CDHF6",
                    "type": "synonym"
                },
                {
                    "name": "DSG3",
                    "type": "synonym"
                },
                {
                    "name": "PVA",
                    "type": "synonym"
                }
            ],
            "record_id": "P32926-1",
            "evidence": [
                {
                    "id": "0050544",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050544"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q00266-1",
            "uniprot_ac": "Q00266",
            "uniprot_id": "METK1_HUMAN",
            "refseq_ac": "NP_000420",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "S-adenosylmethionine synthase isoform type-1",
                    "type": "recommended"
                },
                {
                    "name": "2.5.1.6",
                    "type": "synonym"
                },
                {
                    "name": "AdoMet synthase 1",
                    "type": "synonym"
                },
                {
                    "name": "MAT 1",
                    "type": "synonym"
                },
                {
                    "name": "MAT-I/III",
                    "type": "synonym"
                },
                {
                    "name": "Methionine adenosyltransferase 1",
                    "type": "synonym"
                },
                {
                    "name": "Methionine adenosyltransferase I/III",
                    "type": "synonym"
                },
                {
                    "name": "S-adenosylmethionine synthase isoform type-1",
                    "type": "synonym"
                },
                {
                    "name": "adoMet synthase 1",
                    "type": "synonym"
                },
                {
                    "name": "adoMet synthetase 1",
                    "type": "synonym"
                },
                {
                    "name": "methionine adenosyltransferase 1",
                    "type": "synonym"
                },
                {
                    "name": "methionine adenosyltransferase I, alpha",
                    "type": "synonym"
                },
                {
                    "name": "methionine adenosyltransferase I/III",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "MAT1A",
                    "type": "recommended"
                },
                {
                    "name": "AMS1",
                    "type": "synonym"
                },
                {
                    "name": "MAT1A",
                    "type": "synonym"
                },
                {
                    "name": "MATA1",
                    "type": "synonym"
                },
                {
                    "name": "MAT",
                    "type": "synonym"
                },
                {
                    "name": "SAMS1",
                    "type": "synonym"
                },
                {
                    "name": "SAMS",
                    "type": "synonym"
                }
            ],
            "record_id": "Q00266-1",
            "evidence": [
                {
                    "id": "0050544",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050544"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0050544"
}