{
    "disease_id": "DOID:0110796",
    "recommended_name": {
        "id": "DOID:0110796",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0110796",
        "name": "hereditary spastic paraplegia 44",
        "description": "A hereditary spastic paraplegia that has_material_basis_in mutation in the GJC2 gene on chromosome 1q42."
    },
    "synonyms": [
        {
            "id": "DOID:0110796",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110796",
            "name": "SPG44",
            "description": ""
        },
        {
            "id": "DOID:0110796",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110796",
            "name": "autosomal recessive spastic paraplegia 44",
            "description": ""
        },
        {
            "id": "MONDO:0013179",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013179",
            "name": "hereditary spastic paraplegia 44",
            "description": "A very rare, complex form of hereditary spastic paraplegia characterized by a late-onset, slowly progressive spastic paraplegia associated with mild ataxia and dysarthria, upper extremity involvement (i.e. loss of finger dexterity, dysmetria), and mild cognitive impairment, without the presence of nystagmus. A hypomyelinating leukodystrophy and thin corpus callosum is observed in all cases and psychomotor development is normal or near normal. SPG44 is caused by mutations in the GJC2 gene (1q41-q42) encoding the gap junction gamma-2 protein."
        },
        {
            "id": "MONDO:0013179",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013179",
            "name": "GJC2 autosomal recessive complex spastic paraplegia",
            "description": ""
        },
        {
            "id": "MONDO:0013179",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013179",
            "name": "SPG44",
            "description": ""
        },
        {
            "id": "MONDO:0013179",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013179",
            "name": "autosomal recessive complex spastic paraplegia caused by mutation in GJC2",
            "description": ""
        },
        {
            "id": "MONDO:0013179",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013179",
            "name": "hereditary spastic paraplegia type 44",
            "description": ""
        },
        {
            "id": "MONDO:0013179",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013179",
            "name": "spastic paraplegia 44, autosomal recessive",
            "description": ""
        },
        {
            "id": "MIM:613206",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/613206",
            "name": "Spastic paraplegia 44, autosomal recessive",
            "description": "Spastic paraplegia 44, autosomal recessive"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0110796"
    ],
    "unlinked_id_list": []
}