{
    "disease_id": "DOID:0111039",
    "recommended_name": {
        "id": "DOID:0111039",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0111039",
        "name": "hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase",
        "description": "A hypermethioninemia characterized by autosomal recessive inheritance of psychomotor delay, severe myopathy, hypermethioninaemia and elevated serum creatine kinase levels that has_material_basis_in compound heterozygous mutation in the AHCY gene on chromosome 20q11."
    },
    "synonyms": [
        {
            "id": "DOID:0111039",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111039",
            "name": "psychomotor retardation due to S-adenosylhomocysteine hydrolase deficiency",
            "description": ""
        },
        {
            "id": "DOID:0111039",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111039",
            "name": "hypermethioninemia due to S-adenosylhomocysteine hydrolase deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0013404",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013404",
            "name": "hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase",
            "description": "Psychomotor retardation due to S-adenosylhomocysteine hydrolase deficiency is characterized by psychomotor delay and severe myopathy (hypotonia, absent tendon reflexes and delayed myelination) from birth, associated with hypermethioninaemia and elevated serum creatine kinase levels."
        },
        {
            "id": "MONDO:0013404",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013404",
            "name": "hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase",
            "description": ""
        },
        {
            "id": "MIM:613752",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/613752",
            "name": "Hypermethioninemia with S-adenosylhomocysteine hydrolase deficiency",
            "description": "Hypermethioninemia with S-adenosylhomocysteine hydrolase deficiency"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0111039"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0111039",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111039",
            "categories": []
        },
        {
            "id": "MONDO:0013404",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013404",
            "categories": []
        },
        {
            "id": "MIM:613752",
            "database": "MIM",
            "url": "https://www.omim.org/entry/613752",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "P50247-1",
            "uniprot_ac": "P50247",
            "uniprot_id": "SAHH_MOUSE",
            "refseq_ac": "NP_057870",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Adenosylhomocysteinase",
                    "type": "recommended"
                },
                {
                    "name": "3.13.2.1",
                    "type": "synonym"
                },
                {
                    "name": "AdoHcyase",
                    "type": "synonym"
                },
                {
                    "name": "CUBP",
                    "type": "synonym"
                },
                {
                    "name": "Liver copper-binding protein",
                    "type": "synonym"
                },
                {
                    "name": "S-adenosyl-L-homocysteine hydrolase",
                    "type": "synonym"
                },
                {
                    "name": "adenosylhomocysteinase",
                    "type": "synonym"
                },
                {
                    "name": "adoHcyase",
                    "type": "synonym"
                },
                {
                    "name": "liver copper-binding protein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Ahcy",
                    "type": "recommended"
                },
                {
                    "name": "Ahcy",
                    "type": "synonym"
                },
                {
                    "name": "CuBP",
                    "type": "synonym"
                },
                {
                    "name": "SAHH",
                    "type": "synonym"
                }
            ],
            "record_id": "P50247-1",
            "evidence": [
                {
                    "id": "0111039",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111039"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P23526-1",
            "uniprot_ac": "P23526",
            "uniprot_id": "SAHH_HUMAN",
            "refseq_ac": "NP_000678",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Adenosylhomocysteinase",
                    "type": "recommended"
                },
                {
                    "name": "3.13.2.1",
                    "type": "synonym"
                },
                {
                    "name": "AdoHcyase",
                    "type": "synonym"
                },
                {
                    "name": "S-adenosyl-L-homocysteine hydrolase",
                    "type": "synonym"
                },
                {
                    "name": "S-adenosylhomocysteine hydrolase",
                    "type": "synonym"
                },
                {
                    "name": "adenosylhomocysteinase isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "epididymis secretory sperm binding protein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "AHCY",
                    "type": "recommended"
                },
                {
                    "name": "AHCY",
                    "type": "synonym"
                },
                {
                    "name": "SAHH",
                    "type": "synonym"
                },
                {
                    "name": "adoHcyase",
                    "type": "synonym"
                }
            ],
            "record_id": "P23526-1",
            "evidence": [
                {
                    "id": "613752",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/613752"
                },
                {
                    "id": "0111039",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111039"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P39954-1",
            "uniprot_ac": "P39954",
            "uniprot_id": "SAHH_YEAST",
            "refseq_ac": "NP_010961",
            "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": "Adenosylhomocysteinase",
                    "type": "recommended"
                },
                {
                    "name": "3.13.2.1",
                    "type": "synonym"
                },
                {
                    "name": "AdoHcyase",
                    "type": "synonym"
                },
                {
                    "name": "S-adenosyl-L-homocysteine hydrolase",
                    "type": "synonym"
                },
                {
                    "name": "adenosylhomocysteinase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "SAH1",
                    "type": "recommended"
                },
                {
                    "name": "SAH1",
                    "type": "synonym"
                }
            ],
            "record_id": "P39954-1",
            "evidence": [
                {
                    "id": "0111039",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111039"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P10760-1",
            "uniprot_ac": "P10760",
            "uniprot_id": "SAHH_RAT",
            "refseq_ac": "NP_058897",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Adenosylhomocysteinase",
                    "type": "recommended"
                },
                {
                    "name": "3.13.2.1",
                    "type": "synonym"
                },
                {
                    "name": "AdoHcyase",
                    "type": "synonym"
                },
                {
                    "name": "S-adenosyl-L-homocysteine hydrolase",
                    "type": "synonym"
                },
                {
                    "name": "S-adenosylhomocysteine hydrolase",
                    "type": "synonym"
                },
                {
                    "name": "adenosylhomocysteinase",
                    "type": "synonym"
                },
                {
                    "name": "adoHcyase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Ahcy",
                    "type": "recommended"
                },
                {
                    "name": "Ahcy",
                    "type": "synonym"
                }
            ],
            "record_id": "P10760-1",
            "evidence": [
                {
                    "id": "0111039",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111039"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q27580-1",
            "uniprot_ac": "Q27580",
            "uniprot_id": "SAHH_DROME",
            "refseq_ac": "NP_001285268",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Adenosylhomocysteinase",
                    "type": "recommended"
                },
                {
                    "name": "3.13.2.1",
                    "type": "synonym"
                },
                {
                    "name": "AdoHcyase",
                    "type": "synonym"
                },
                {
                    "name": "Ahcy-PC",
                    "type": "synonym"
                },
                {
                    "name": "CG11654-PC",
                    "type": "synonym"
                },
                {
                    "name": "S-Adenosyl-L-homocysteine hydrolase",
                    "type": "synonym"
                },
                {
                    "name": "S-adenosyl-L-homocysteine hydrolase",
                    "type": "synonym"
                },
                {
                    "name": "adenosylhomocysteinase at 13",
                    "type": "synonym"
                },
                {
                    "name": "adenosylhomocysteinase, isoform C",
                    "type": "synonym"
                },
                {
                    "name": "adenosylhomocysteinases",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Ahcy",
                    "type": "recommended"
                },
                {
                    "name": "Ahcy13",
                    "type": "synonym"
                },
                {
                    "name": "Ahcy",
                    "type": "synonym"
                },
                {
                    "name": "CG11654",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG11654",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG11654",
                    "type": "synonym"
                },
                {
                    "name": "SAHH",
                    "type": "synonym"
                },
                {
                    "name": "ahcY",
                    "type": "synonym"
                }
            ],
            "record_id": "Q27580-1",
            "evidence": [
                {
                    "id": "0111039",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111039"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0111039"
}