{
    "disease_id": "DOID:0060245",
    "recommended_name": {
        "id": "DOID:0060245",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0060245",
        "name": "Mast syndrome",
        "description": "A hereditary spastic paraplegia associated with dementia."
    },
    "synonyms": [
        {
            "id": "DOID:0060245",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060245",
            "name": "SPG21",
            "description": ""
        },
        {
            "id": "DOID:0060245",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060245",
            "name": "autosomal recessive spastic paraplegia 21",
            "description": ""
        },
        {
            "id": "DOID:0060245",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060245",
            "name": "autosomal recessive spastic paraplegia type 21",
            "description": ""
        },
        {
            "id": "DOID:0060245",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060245",
            "name": "hereditary spastic paraplegia 21",
            "description": ""
        },
        {
            "id": "MONDO:0009568",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009568",
            "name": "mast syndrome",
            "description": "Autosomal recessive spastic paraplegia type 21 is a complex type of hereditary spastic paraplegia characterized by an onset in adolescence or adulthood of slowly progressive spastic paraparesis associated with the additional manifestations of apraxia, cognitive and speech decline (leading to dementia and akinetic mutism in some cases), personality disturbances and extrapyramidal (e.g. oromandibular dyskinesia, rigidity) and cerebellar (i.e. dysdiadochokinesia and incoordination) signs. Subtle abnormalities (e.g. developmental delays) may be noted earlier in childhood. A thin corpus callosum and white matter abnormalities are equally reported on magnetic resonance imaging."
        },
        {
            "id": "MONDO:0009568",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009568",
            "name": "Mast syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0009568",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009568",
            "name": "SPG21",
            "description": ""
        },
        {
            "id": "MONDO:0009568",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009568",
            "name": "autosomal recessive spastic paraplegia type 21",
            "description": ""
        },
        {
            "id": "MONDO:0009568",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009568",
            "name": "mast syndrome",
            "description": ""
        },
        {
            "id": "MIM:248900",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/248900",
            "name": "Spastic paraplegia 21, autosomal recessive",
            "description": "Spastic paraplegia 21, autosomal recessive"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0060245"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0060245",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060245",
            "categories": []
        },
        {
            "id": "MONDO:0009568",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009568",
            "categories": []
        },
        {
            "id": "MIM:248900",
            "database": "MIM",
            "url": "https://www.omim.org/entry/248900",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q6PC62-1",
            "uniprot_ac": "Q6PC62",
            "uniprot_id": "SPG21_DANRE",
            "refseq_ac": "NP_998560",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Maspardin",
                    "type": "recommended"
                },
                {
                    "name": "Spastic paraplegia 21 autosomal recessive Mast syndrome protein homolog",
                    "type": "synonym"
                },
                {
                    "name": "acid cluster protein 33",
                    "type": "synonym"
                },
                {
                    "name": "maspardin",
                    "type": "synonym"
                },
                {
                    "name": "spastic paraplegia 21 (autosomal recessive, Mast syndrome)",
                    "type": "synonym"
                },
                {
                    "name": "spastic paraplegia 21 autosomal recessive Mast syndrome protein homolog",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "spg21",
                    "type": "recommended"
                },
                {
                    "name": "spg21",
                    "type": "synonym"
                },
                {
                    "name": "wu:fd07h02",
                    "type": "synonym"
                },
                {
                    "name": "zgc:73091",
                    "type": "synonym"
                }
            ],
            "record_id": "Q6PC62-1",
            "evidence": [
                {
                    "id": "0060245",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060245"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9CQC8-1",
            "uniprot_ac": "Q9CQC8",
            "uniprot_id": "SPG21_MOUSE",
            "refseq_ac": "NP_613050",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Maspardin",
                    "type": "recommended"
                },
                {
                    "name": "Acid cluster protein 33",
                    "type": "synonym"
                },
                {
                    "name": "Spastic paraplegia 21 autosomal recessive Mast syndrome protein homolog",
                    "type": "synonym"
                },
                {
                    "name": "acid cluster protein 33",
                    "type": "synonym"
                },
                {
                    "name": "maspardin isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "maspardin",
                    "type": "synonym"
                },
                {
                    "name": "spastic paraplegia 21 autosomal recessive Mast syndrome protein homolog",
                    "type": "synonym"
                },
                {
                    "name": "spastic paraplegia 21 homolog",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Spg21",
                    "type": "recommended"
                },
                {
                    "name": "ACP33",
                    "type": "synonym"
                },
                {
                    "name": "BM-019",
                    "type": "synonym"
                },
                {
                    "name": "D9Wsu18e",
                    "type": "synonym"
                },
                {
                    "name": "GL010",
                    "type": "synonym"
                },
                {
                    "name": "MAST",
                    "type": "synonym"
                },
                {
                    "name": "Spg21",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9CQC8-1",
            "evidence": [
                {
                    "id": "0060245",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060245"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9NZD8-1",
            "uniprot_ac": "Q9NZD8",
            "uniprot_id": "SPG21_HUMAN",
            "refseq_ac": "NP_001121361",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Maspardin",
                    "type": "recommended"
                },
                {
                    "name": "Acid cluster protein 33",
                    "type": "synonym"
                },
                {
                    "name": "SPG21, maspardin",
                    "type": "synonym"
                },
                {
                    "name": "Spastic paraplegia 21 autosomal recessive Mast syndrome protein",
                    "type": "synonym"
                },
                {
                    "name": "Spastic paraplegia 21 protein",
                    "type": "synonym"
                },
                {
                    "name": "acid cluster protein 33",
                    "type": "synonym"
                },
                {
                    "name": "maspardin isoform a",
                    "type": "synonym"
                },
                {
                    "name": "maspardin",
                    "type": "synonym"
                },
                {
                    "name": "spastic paraplegia 21 (autosomal recessive, Mast syndrome)",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "SPG21",
                    "type": "recommended"
                },
                {
                    "name": "ABHD21",
                    "type": "synonym"
                },
                {
                    "name": "ACP33",
                    "type": "synonym"
                },
                {
                    "name": "BM-019",
                    "type": "synonym"
                },
                {
                    "name": "GL010",
                    "type": "synonym"
                },
                {
                    "name": "MAST",
                    "type": "synonym"
                },
                {
                    "name": "SPG21",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9NZD8-1",
            "evidence": [
                {
                    "id": "248900",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/248900"
                },
                {
                    "id": "0060245",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060245"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q5XIC4-1",
            "uniprot_ac": "Q5XIC4",
            "uniprot_id": "SPG21_RAT",
            "refseq_ac": "NP_001006988",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Maspardin",
                    "type": "recommended"
                },
                {
                    "name": "SPG21, maspardin",
                    "type": "synonym"
                },
                {
                    "name": "Spastic paraplegia 21 autosomal recessive Mast syndrome protein homolog",
                    "type": "synonym"
                },
                {
                    "name": "acid cluster protein 33",
                    "type": "synonym"
                },
                {
                    "name": "maspardin isoform 3",
                    "type": "synonym"
                },
                {
                    "name": "maspardin",
                    "type": "synonym"
                },
                {
                    "name": "spastic paraplegia 21 autosomal recessive Mast syndrome protein homolog",
                    "type": "synonym"
                },
                {
                    "name": "spastic paraplegia 21 homolog-like",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Spg21",
                    "type": "recommended"
                },
                {
                    "name": "Spg21",
                    "type": "synonym"
                }
            ],
            "record_id": "Q5XIC4-1",
            "evidence": [
                {
                    "id": "0060245",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060245"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0060245"
}