{
    "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": [],
    "crossref": [
        {
            "id": "DOID:0110796",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110796",
            "categories": []
        },
        {
            "id": "MONDO:0013179",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013179",
            "categories": []
        },
        {
            "id": "MIM:613206",
            "database": "MIM",
            "url": "https://www.omim.org/entry/613206",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q8BQU6-1",
            "uniprot_ac": "Q8BQU6",
            "uniprot_id": "CXG2_MOUSE",
            "refseq_ac": "NP_536702",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Gap junction gamma-2 protein",
                    "type": "recommended"
                },
                {
                    "name": "Connexin-47",
                    "type": "synonym"
                },
                {
                    "name": "Cx47",
                    "type": "synonym"
                },
                {
                    "name": "Gap junction alpha-12 protein",
                    "type": "synonym"
                },
                {
                    "name": "connexin 47 type A",
                    "type": "synonym"
                },
                {
                    "name": "connexin 47 type C",
                    "type": "synonym"
                },
                {
                    "name": "connexin 47 type D",
                    "type": "synonym"
                },
                {
                    "name": "connexin o",
                    "type": "synonym"
                },
                {
                    "name": "connexin-47",
                    "type": "synonym"
                },
                {
                    "name": "gap junction alpha-12 protein",
                    "type": "synonym"
                },
                {
                    "name": "gap junction gamma-2 protein",
                    "type": "synonym"
                },
                {
                    "name": "gap junction membrane channel protein alpha 12",
                    "type": "synonym"
                },
                {
                    "name": "gap junction protein, chi 2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Gjc2",
                    "type": "recommended"
                },
                {
                    "name": "B230382L12Rik",
                    "type": "synonym"
                },
                {
                    "name": "Cx47",
                    "type": "synonym"
                },
                {
                    "name": "Cxno",
                    "type": "synonym"
                },
                {
                    "name": "Gja12",
                    "type": "synonym"
                },
                {
                    "name": "Gjc2",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8BQU6-1",
            "evidence": [
                {
                    "id": "0110796",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110796"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q5T442-1",
            "uniprot_ac": "Q5T442",
            "uniprot_id": "CXG2_HUMAN",
            "refseq_ac": "NP_065168",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Gap junction gamma-2 protein",
                    "type": "recommended"
                },
                {
                    "name": "Connexin-46.6",
                    "type": "synonym"
                },
                {
                    "name": "Connexin-47",
                    "type": "synonym"
                },
                {
                    "name": "Cx46.6",
                    "type": "synonym"
                },
                {
                    "name": "Cx47",
                    "type": "synonym"
                },
                {
                    "name": "Gap junction alpha-12 protein",
                    "type": "synonym"
                },
                {
                    "name": "connexin-46.6",
                    "type": "synonym"
                },
                {
                    "name": "connexin-47",
                    "type": "synonym"
                },
                {
                    "name": "gap junction alpha-12 protein",
                    "type": "synonym"
                },
                {
                    "name": "gap junction gamma-2 protein",
                    "type": "synonym"
                },
                {
                    "name": "gap junction protein, gamma 2, 47kDa",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "GJC2",
                    "type": "recommended"
                },
                {
                    "name": "CX46.6",
                    "type": "synonym"
                },
                {
                    "name": "Cx47",
                    "type": "synonym"
                },
                {
                    "name": "GJA12",
                    "type": "synonym"
                },
                {
                    "name": "GJC2",
                    "type": "synonym"
                },
                {
                    "name": "HLD2",
                    "type": "synonym"
                },
                {
                    "name": "LMPH1C",
                    "type": "synonym"
                },
                {
                    "name": "LMPHM3",
                    "type": "synonym"
                },
                {
                    "name": "PMLDAR",
                    "type": "synonym"
                },
                {
                    "name": "SPG44",
                    "type": "synonym"
                }
            ],
            "record_id": "Q5T442-1",
            "evidence": [
                {
                    "id": "613206",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/613206"
                },
                {
                    "id": "0110796",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110796"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q80XF7-1",
            "uniprot_ac": "Q80XF7",
            "uniprot_id": "CXG2_RAT",
            "refseq_ac": "NP_001094254",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Gap junction gamma-2 protein",
                    "type": "recommended"
                },
                {
                    "name": "Connexin-47",
                    "type": "synonym"
                },
                {
                    "name": "Cx47",
                    "type": "synonym"
                },
                {
                    "name": "Gap junction alpha-12 protein",
                    "type": "synonym"
                },
                {
                    "name": "connexin-47",
                    "type": "synonym"
                },
                {
                    "name": "gap junction alpha-12 protein",
                    "type": "synonym"
                },
                {
                    "name": "gap junction gamma-2 protein",
                    "type": "synonym"
                },
                {
                    "name": "gap junction membrane channel protein alpha 12",
                    "type": "synonym"
                },
                {
                    "name": "gap junction protein, alpha 12",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Gjc2",
                    "type": "recommended"
                },
                {
                    "name": "Cx47",
                    "type": "synonym"
                },
                {
                    "name": "Gja12",
                    "type": "synonym"
                },
                {
                    "name": "Gjc2",
                    "type": "synonym"
                }
            ],
            "record_id": "Q80XF7-1",
            "evidence": [
                {
                    "id": "0110796",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110796"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0110796"
}