{
    "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": []
}