{
    "disease_id": "DOID:0110786",
    "recommended_name": {
        "id": "DOID:0110786",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0110786",
        "name": "hereditary spastic paraplegia 35",
        "description": "A hereditary spastic paraplegia that has_material_basis_in mutation in the FA2H gene on chromosome 16q23.1."
    },
    "synonyms": [
        {
            "id": "DOID:0110786",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110786",
            "name": "FAHN",
            "description": ""
        },
        {
            "id": "DOID:0110786",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110786",
            "name": "leukodystrophy, dysmyelinating and spastic paraparesis with or without dystonia",
            "description": ""
        },
        {
            "id": "DOID:0110786",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110786",
            "name": "SPG35",
            "description": ""
        },
        {
            "id": "DOID:0110786",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110786",
            "name": "autosomal recessive spastic paraplegia 35",
            "description": ""
        },
        {
            "id": "DOID:0110786",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110786",
            "name": "autosomal recessive spastic paraplegia type 35",
            "description": ""
        },
        {
            "id": "DOID:0110786",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110786",
            "name": "fatty acid hydroxylase-associated neurodegeneration",
            "description": ""
        },
        {
            "id": "MONDO:0012866",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012866",
            "name": "hereditary spastic paraplegia 35",
            "description": "Autosomal recessive spastic paraplegia type 35 is a rare form of hereditary spastic paraplegia characterized by childhood (exceptionally adolescent) onset of a complex phenotype presenting with lower limb (followed by upper limb) spasticity with hyperreflexia and extensor plantar responses, with additional manifestations including progressive dysarthria, dystonia, mild cognitive decline, extrapyramidal features, optic atrophy and seizures. White matter abnormalities and brain iron accumulation have also been observed on brain magnetic resonance imaging."
        },
        {
            "id": "MONDO:0012866",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012866",
            "name": "FA2H hereditary spastic paraplegia",
            "description": ""
        },
        {
            "id": "MONDO:0012866",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012866",
            "name": "SPG35",
            "description": ""
        },
        {
            "id": "MONDO:0012866",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012866",
            "name": "autosomal recessive spastic paraplegia type 35",
            "description": ""
        },
        {
            "id": "MONDO:0012866",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012866",
            "name": "hereditary spastic paraplegia 35",
            "description": ""
        },
        {
            "id": "MONDO:0012866",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012866",
            "name": "hereditary spastic paraplegia caused by mutation in FA2H",
            "description": ""
        },
        {
            "id": "MONDO:0012866",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012866",
            "name": "hereditary spastic paraplegia type 35",
            "description": ""
        },
        {
            "id": "MONDO:0012866",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012866",
            "name": "spastic paraplegia 35, autosomal recessive",
            "description": ""
        },
        {
            "id": "MIM:612319",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/612319",
            "name": "Spastic paraplegia 35, autosomal recessive, with or without neurodegeneration",
            "description": "Spastic paraplegia 35, autosomal recessive, with or without neurodegeneration"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0110786"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0110786",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110786",
            "categories": []
        },
        {
            "id": "MONDO:0012866",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012866",
            "categories": []
        },
        {
            "id": "MIM:612319",
            "database": "MIM",
            "url": "https://www.omim.org/entry/612319",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0AB13ABP4-1",
            "uniprot_ac": "A0AB13ABP4",
            "uniprot_id": "A0AB13ABP4_DANRE",
            "refseq_ac": "NP_001417888",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Fatty acid 2-hydroxylase",
                    "type": "recommended"
                },
                {
                    "name": "1.-.-.-",
                    "type": "synonym"
                },
                {
                    "name": "fatty acid 2-hydroxylase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "fa2h",
                    "type": "recommended"
                },
                {
                    "name": "cb1044",
                    "type": "synonym"
                },
                {
                    "name": "fa2h",
                    "type": "synonym"
                },
                {
                    "name": "zgc:153777",
                    "type": "synonym"
                }
            ],
            "record_id": "A0AB13ABP4-1",
            "evidence": [
                {
                    "id": "0110786",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110786"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q5MPP0-1",
            "uniprot_ac": "Q5MPP0",
            "uniprot_id": "FA2H_MOUSE",
            "refseq_ac": "NP_835187",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Fatty acid 2-hydroxylase",
                    "type": "recommended"
                },
                {
                    "name": "1.14.18.-",
                    "type": "synonym"
                },
                {
                    "name": "Fatty acid alpha-hydroxylase",
                    "type": "synonym"
                },
                {
                    "name": "fatty acid 2-hydroxylase",
                    "type": "synonym"
                },
                {
                    "name": "fatty acid alpha-hydroxylase",
                    "type": "synonym"
                },
                {
                    "name": "fatty acid hydroxylase domain containing 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Fa2h",
                    "type": "recommended"
                },
                {
                    "name": "FAAH",
                    "type": "synonym"
                },
                {
                    "name": "Fa2h",
                    "type": "synonym"
                },
                {
                    "name": "Faah",
                    "type": "synonym"
                },
                {
                    "name": "Faxdc1",
                    "type": "synonym"
                },
                {
                    "name": "G630055L08Rik",
                    "type": "synonym"
                }
            ],
            "record_id": "Q5MPP0-1",
            "evidence": [
                {
                    "id": "0110786",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110786"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q7L5A8-1",
            "uniprot_ac": "Q7L5A8",
            "uniprot_id": "FA2H_HUMAN",
            "refseq_ac": "NP_077282",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Fatty acid 2-hydroxylase",
                    "type": "recommended"
                },
                {
                    "name": "1.14.18.-",
                    "type": "synonym"
                },
                {
                    "name": "Fatty acid alpha-hydroxylase",
                    "type": "synonym"
                },
                {
                    "name": "Fatty acid hydroxylase domain-containing protein 1",
                    "type": "synonym"
                },
                {
                    "name": "fatty acid 2-hydroxylase",
                    "type": "synonym"
                },
                {
                    "name": "fatty acid alpha-hydroxylase",
                    "type": "synonym"
                },
                {
                    "name": "fatty acid hydroxylase domain containing 1",
                    "type": "synonym"
                },
                {
                    "name": "fatty acid hydroxylase domain-containing protein 1",
                    "type": "synonym"
                },
                {
                    "name": "spastic paraplegia 35 (autosomal recessive)",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "FA2H",
                    "type": "recommended"
                },
                {
                    "name": "FA2H",
                    "type": "synonym"
                },
                {
                    "name": "FAAH",
                    "type": "synonym"
                },
                {
                    "name": "FAH1",
                    "type": "synonym"
                },
                {
                    "name": "FAXDC1",
                    "type": "synonym"
                },
                {
                    "name": "SCS7",
                    "type": "synonym"
                },
                {
                    "name": "SPG35",
                    "type": "synonym"
                }
            ],
            "record_id": "Q7L5A8-1",
            "evidence": [
                {
                    "id": "612319",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/612319"
                },
                {
                    "id": "0110786",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110786"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q03529-1",
            "uniprot_ac": "Q03529",
            "uniprot_id": "SCS7_YEAST",
            "refseq_ac": "NP_013999",
            "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": "Ceramide very long chain fatty acid hydroxylase SCS7",
                    "type": "recommended"
                },
                {
                    "name": "1.14.18.6",
                    "type": "synonym"
                },
                {
                    "name": "1.14.18.7",
                    "type": "synonym"
                },
                {
                    "name": "4-hydroxysphinganine ceramide fatty acyl 2-hydroxylase SCS7",
                    "type": "synonym"
                },
                {
                    "name": "Ceramide VLCFA hydroxylase SCS7",
                    "type": "synonym"
                },
                {
                    "name": "Dihydroceramide fatty acyl 2-hydroxylase SCS7",
                    "type": "synonym"
                },
                {
                    "name": "Sphingolipid alpha-hydroxylase",
                    "type": "synonym"
                },
                {
                    "name": "Suppressor of calcium sensitivity 7",
                    "type": "synonym"
                },
                {
                    "name": "fatty acid alpha-hydroxylase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "SCS7",
                    "type": "recommended"
                },
                {
                    "name": "FAH1",
                    "type": "synonym"
                },
                {
                    "name": "SCS7",
                    "type": "synonym"
                },
                {
                    "name": "YM8156.14C",
                    "type": "synonym"
                }
            ],
            "record_id": "Q03529-1",
            "evidence": [
                {
                    "id": "0110786",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110786"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q2LAM0-1",
            "uniprot_ac": "Q2LAM0",
            "uniprot_id": "FA2H_RAT",
            "refseq_ac": "NP_001129055",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Fatty acid 2-hydroxylase",
                    "type": "recommended"
                },
                {
                    "name": "1.14.18.-",
                    "type": "synonym"
                },
                {
                    "name": "Fatty acid alpha-hydroxylase",
                    "type": "synonym"
                },
                {
                    "name": "WD repeat domain 59",
                    "type": "synonym"
                },
                {
                    "name": "fatty acid 2-hydroxylase",
                    "type": "synonym"
                },
                {
                    "name": "fatty acid alpha-hydroxylase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Fa2h",
                    "type": "recommended"
                },
                {
                    "name": "Fa2h",
                    "type": "synonym"
                },
                {
                    "name": "Faah",
                    "type": "synonym"
                },
                {
                    "name": "RGD1310347",
                    "type": "synonym"
                },
                {
                    "name": "Wdr59",
                    "type": "synonym"
                }
            ],
            "record_id": "Q2LAM0-1",
            "evidence": [
                {
                    "id": "0110786",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110786"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0110786"
}