{
    "disease_id": "DOID:0110801",
    "recommended_name": {
        "id": "DOID:0110801",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0110801",
        "name": "hereditary sensory and autonomic neuropathy type 9",
        "description": "A hereditary sensory and autonomic neuropathy characterized by global developmental delay, intellectual disability, hypotonia, dysarthria, abnormal gait, hyporeflexia, and central hypoventilation or apnea that has_material_basis_in homozygous or compound heterozygous mutation in the TECPR2 gene on chromosome 14q32. Additional symptoms due to peripheral neuropathy or autonomic dysfunction are more variable."
    },
    "synonyms": [
        {
            "id": "DOID:0110801",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110801",
            "name": "SPG49",
            "description": ""
        },
        {
            "id": "DOID:0110801",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110801",
            "name": "autosomal recessive spastic paraplegia 49",
            "description": ""
        },
        {
            "id": "DOID:0110801",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110801",
            "name": "hereditary sensory and autonomic neuropathy type IX",
            "description": ""
        },
        {
            "id": "DOID:0110801",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110801",
            "name": "TECPR2-related hereditary sensory and autonomic neuropathy",
            "description": ""
        },
        {
            "id": "DOID:0110801",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110801",
            "name": "HSAN9",
            "description": ""
        },
        {
            "id": "MONDO:0014016",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014016",
            "name": "hereditary spastic paraplegia 49",
            "description": "Any hereditary spastic paraplegia in which the cause of the disease is a mutation in the TECPR2 gene."
        },
        {
            "id": "MONDO:0014016",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014016",
            "name": "SPG49",
            "description": ""
        },
        {
            "id": "MONDO:0014016",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014016",
            "name": "TECPR2 hereditary spastic paraplegia",
            "description": ""
        },
        {
            "id": "MONDO:0014016",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014016",
            "name": "autosomal recessive spastic paraplegia type 49",
            "description": ""
        },
        {
            "id": "MONDO:0014016",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014016",
            "name": "hereditary spastic paraplegia 49",
            "description": ""
        },
        {
            "id": "MONDO:0014016",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014016",
            "name": "hereditary spastic paraplegia caused by mutation in TECPR2",
            "description": ""
        },
        {
            "id": "MONDO:0014016",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014016",
            "name": "hereditary spastic paraplegia type 49",
            "description": ""
        },
        {
            "id": "MONDO:0014016",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014016",
            "name": "neuropathy, hereditary sensory and autonomic, type IX, with developmental delay",
            "description": ""
        },
        {
            "id": "MONDO:0014016",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014016",
            "name": "spastic paraplegia 49, autosomal recessive",
            "description": ""
        },
        {
            "id": "MIM:615031",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/615031",
            "name": "Neuropathy, hereditary sensory and autonomic, 9, with developmental delay",
            "description": "Neuropathy, hereditary sensory and autonomic, 9, with developmental delay"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0110801"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0110801",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110801",
            "categories": []
        },
        {
            "id": "MONDO:0014016",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014016",
            "categories": []
        },
        {
            "id": "MIM:615031",
            "database": "MIM",
            "url": "https://www.omim.org/entry/615031",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0ACD6B6Q9-1",
            "uniprot_ac": "A0ACD6B6Q9",
            "uniprot_id": "A0ACD6B6Q9_DANRE",
            "refseq_ac": "NP_001038644",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Tectonin beta-propeller repeat-containing protein 2 isoform X1",
                    "type": "synonym"
                },
                {
                    "name": "tectonin beta-propeller repeat-containing protein 2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "tecpr2",
                    "type": "recommended"
                },
                {
                    "name": "si:dkey-46n18.5",
                    "type": "synonym"
                },
                {
                    "name": "tecpr2",
                    "type": "synonym"
                }
            ],
            "record_id": "A0ACD6B6Q9-1",
            "evidence": [
                {
                    "id": "0110801",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110801"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "O15040-1",
            "uniprot_ac": "O15040",
            "uniprot_id": "TCPR2_HUMAN",
            "refseq_ac": "NP_001166102",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Tectonin beta-propeller repeat-containing protein 2",
                    "type": "recommended"
                },
                {
                    "name": "WD repeat-containing protein KIAA0329/KIAA0297",
                    "type": "synonym"
                },
                {
                    "name": "tectonin beta-propeller repeat-containing protein 2 isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "tectonin beta-propeller repeat-containing protein 2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "TECPR2",
                    "type": "recommended"
                },
                {
                    "name": "HSAN9",
                    "type": "synonym"
                },
                {
                    "name": "KIAA0297",
                    "type": "synonym"
                },
                {
                    "name": "KIAA0329",
                    "type": "synonym"
                },
                {
                    "name": "SPG49",
                    "type": "synonym"
                },
                {
                    "name": "TECPR2",
                    "type": "synonym"
                }
            ],
            "record_id": "O15040-1",
            "evidence": [
                {
                    "id": "615031",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/615031"
                },
                {
                    "id": "0110801",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110801"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "D4A6U4-1",
            "uniprot_ac": "D4A6U4",
            "uniprot_id": "D4A6U4_RAT",
            "refseq_ac": "NP_001414150",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Tectonin beta-propeller repeat containing 2",
                    "type": "synonym"
                },
                {
                    "name": "tectonin beta-propeller repeat-containing protein 2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Tecpr2",
                    "type": "recommended"
                },
                {
                    "name": "RGD1307503",
                    "type": "synonym"
                },
                {
                    "name": "Tecpr2",
                    "type": "synonym"
                }
            ],
            "record_id": "D4A6U4-1",
            "evidence": [
                {
                    "id": "0110801",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110801"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q6NLL1-1",
            "uniprot_ac": "Q6NLL1",
            "uniprot_id": "Y1411_DROME",
            "refseq_ac": "NP_001286159",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "WD repeat-containing protein CG11141",
                    "type": "recommended"
                },
                {
                    "name": "CG11141-PC",
                    "type": "synonym"
                },
                {
                    "name": "uncharacterized protein, isoform C",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Dmel\\CG11141",
                    "type": "recommended"
                },
                {
                    "name": "CG11141",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG11141",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG11141",
                    "type": "synonym"
                }
            ],
            "record_id": "Q6NLL1-1",
            "evidence": [
                {
                    "id": "0110801",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110801"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0110801"
}