{
    "disease_id": "DOID:0050526",
    "recommended_name": {
        "id": "DOID:0050526",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0050526",
        "name": "Gamstorp-Wohlfart syndrome",
        "description": "A syndrome characterized by progressive weakness and atrophy of muscles in feet, legs and hands. In some patients the syndrome also causes decreased sensitivity to touch, heat or cold, particularly in the lower arms or legs."
    },
    "synonyms": [
        {
            "id": "DOID:0050526",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0050526",
            "name": "autosomal recessive neuromyotonia and axonal neuropathy",
            "description": ""
        },
        {
            "id": "DOID:0050526",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0050526",
            "name": "myokymia, myotonia and muscle wasting",
            "description": ""
        },
        {
            "id": "MONDO:0007646",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007646",
            "name": "Gamstorp-Wohlfart syndrome",
            "description": "A rare peripheral neuropathy characterized by slowly progressive axonal, motor greater than sensory polyneuropathy combined with neuromytonia (including spontaneous muscular activity at rest (myokymia), impaired muscle relaxation (pseudomyotonia), and contractures of hands and feet) and neuromyotonic or myokymic discharges on needle EMG. It presents with distal lower limb weakness with gait impairment, muscle stiffness, fasciculations and cramps in hands and legs worsened by cold, decreased to absent tendon reflexes, intrinsic hand muscle atrophy and, variably, mild distal sensory impairment."
        },
        {
            "id": "MONDO:0007646",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007646",
            "name": "ARAN-NM",
            "description": ""
        },
        {
            "id": "MONDO:0007646",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007646",
            "name": "ARCMT2-NM",
            "description": ""
        },
        {
            "id": "MONDO:0007646",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007646",
            "name": "Gamstorp-Wohlfart syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0007646",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007646",
            "name": "autosomal recessive Charcot-Marie-Tooth disease type 2 with neuromyotonia",
            "description": ""
        },
        {
            "id": "MONDO:0007646",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007646",
            "name": "NMAN",
            "description": ""
        },
        {
            "id": "MONDO:0007646",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007646",
            "name": "neuromyotonia and axonal neuropathy, autosomal recessive",
            "description": ""
        },
        {
            "id": "MIM:137200",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/137200",
            "name": "Neuromyotonia and axonal neuropathy, autosomal recessive",
            "description": "Neuromyotonia and axonal neuropathy, autosomal recessive"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0050526"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0050526",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0050526",
            "categories": []
        },
        {
            "id": "MONDO:0007646",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007646",
            "categories": []
        },
        {
            "id": "MIM:137200",
            "database": "MIM",
            "url": "https://www.omim.org/entry/137200",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "P70349-1",
            "uniprot_ac": "P70349",
            "uniprot_id": "HINT1_MOUSE",
            "refseq_ac": "NP_032274",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Adenosine 5'-monophosphoramidase HINT1",
                    "type": "recommended"
                },
                {
                    "name": "3.4.22.-",
                    "type": "synonym"
                },
                {
                    "name": "3.9.1.-",
                    "type": "synonym"
                },
                {
                    "name": "Desumoylating isopeptidase HINT1",
                    "type": "synonym"
                },
                {
                    "name": "Histidine triad nucleotide-binding protein 1",
                    "type": "synonym"
                },
                {
                    "name": "PKC inhibitor/ interacting protein",
                    "type": "synonym"
                },
                {
                    "name": "PKCI-1",
                    "type": "synonym"
                },
                {
                    "name": "Protein kinase C inhibitor 1",
                    "type": "synonym"
                },
                {
                    "name": "Protein kinase C-interacting protein 1",
                    "type": "synonym"
                },
                {
                    "name": "adenosine 5'-monophosphoramidase HINT1",
                    "type": "synonym"
                },
                {
                    "name": "adenosine 5'-monophosphoramidase",
                    "type": "synonym"
                },
                {
                    "name": "desumoylating isopeptidase HINT1",
                    "type": "synonym"
                },
                {
                    "name": "protein kinase C inhibitor 1",
                    "type": "synonym"
                },
                {
                    "name": "protein kinase C-interacting protein 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Hint1",
                    "type": "recommended"
                },
                {
                    "name": "Hint1",
                    "type": "synonym"
                },
                {
                    "name": "Hint",
                    "type": "synonym"
                },
                {
                    "name": "Ipk1",
                    "type": "synonym"
                },
                {
                    "name": "PKCI-1",
                    "type": "synonym"
                },
                {
                    "name": "PRKCNH1",
                    "type": "synonym"
                },
                {
                    "name": "Pkci1",
                    "type": "synonym"
                },
                {
                    "name": "Pkci",
                    "type": "synonym"
                },
                {
                    "name": "Prkcnh1",
                    "type": "synonym"
                }
            ],
            "record_id": "P70349-1",
            "evidence": [
                {
                    "id": "0050526",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050526"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9D0S9-1",
            "uniprot_ac": "Q9D0S9",
            "uniprot_id": "HINT2_MOUSE",
            "refseq_ac": "NP_081147",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Adenosine 5'-monophosphoramidase HINT2",
                    "type": "recommended"
                },
                {
                    "name": "3.9.1.-",
                    "type": "synonym"
                },
                {
                    "name": "HINT-2",
                    "type": "synonym"
                },
                {
                    "name": "HINT-3",
                    "type": "synonym"
                },
                {
                    "name": "Histidine triad nucleotide-binding protein 2, mitochondrial",
                    "type": "synonym"
                },
                {
                    "name": "adenosine 5'-monophosphoramidase HINT2 precursor",
                    "type": "synonym"
                },
                {
                    "name": "adenosine 5'-monophosphoramidase HINT2",
                    "type": "synonym"
                },
                {
                    "name": "histidine triad nucleotide-binding protein 2, mitochondrial",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Hint2",
                    "type": "recommended"
                },
                {
                    "name": "1190005L05Rik",
                    "type": "synonym"
                },
                {
                    "name": "Hint2",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9D0S9-1",
            "evidence": [
                {
                    "id": "0050526",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050526"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P49773-1",
            "uniprot_ac": "P49773",
            "uniprot_id": "HINT1_HUMAN",
            "refseq_ac": "NP_005331",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Adenosine 5'-monophosphoramidase HINT1",
                    "type": "recommended"
                },
                {
                    "name": "3.4.22.-",
                    "type": "synonym"
                },
                {
                    "name": "3.9.1.-",
                    "type": "synonym"
                },
                {
                    "name": "Desumoylating isopeptidase HINT1",
                    "type": "synonym"
                },
                {
                    "name": "Histidine triad nucleotide-binding protein 1",
                    "type": "synonym"
                },
                {
                    "name": "PKCI-1",
                    "type": "synonym"
                },
                {
                    "name": "Protein kinase C inhibitor 1",
                    "type": "synonym"
                },
                {
                    "name": "Protein kinase C-interacting protein 1",
                    "type": "synonym"
                },
                {
                    "name": "adenosine 5'-monophosphoramidase HINT1 isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "adenosine 5'-monophosphoramidase HINT1",
                    "type": "synonym"
                },
                {
                    "name": "adenosine 5'-monophosphoramidase",
                    "type": "synonym"
                },
                {
                    "name": "desumoylating isopeptidase HINT1",
                    "type": "synonym"
                },
                {
                    "name": "epididymis secretory sperm binding protein",
                    "type": "synonym"
                },
                {
                    "name": "protein kinase C inhibitor 1",
                    "type": "synonym"
                },
                {
                    "name": "protein kinase C-interacting protein 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "HINT1",
                    "type": "recommended"
                },
                {
                    "name": "HINT1",
                    "type": "synonym"
                },
                {
                    "name": "HINT",
                    "type": "synonym"
                },
                {
                    "name": "NMAN",
                    "type": "synonym"
                },
                {
                    "name": "PKCI-1",
                    "type": "synonym"
                },
                {
                    "name": "PKCI1",
                    "type": "synonym"
                },
                {
                    "name": "PRKCNH1",
                    "type": "synonym"
                }
            ],
            "record_id": "P49773-1",
            "evidence": [
                {
                    "id": "137200",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/137200"
                },
                {
                    "id": "0050526",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050526"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q04344-1",
            "uniprot_ac": "Q04344",
            "uniprot_id": "HNT1_YEAST",
            "refseq_ac": "NP_010158",
            "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": "Adenosine 5'-monophosphoramidase HNT1",
                    "type": "recommended"
                },
                {
                    "name": "3.-.-.-",
                    "type": "synonym"
                },
                {
                    "name": "HINT",
                    "type": "synonym"
                },
                {
                    "name": "Histidine triad nucleotide-binding protein HNT1",
                    "type": "synonym"
                },
                {
                    "name": "Hit family protein 1",
                    "type": "synonym"
                },
                {
                    "name": "adenosine 5'-monophosphoramidase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "HNT1",
                    "type": "recommended"
                },
                {
                    "name": "HIT1",
                    "type": "synonym"
                },
                {
                    "name": "HNT1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q04344-1",
            "evidence": [
                {
                    "id": "0050526",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050526"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P62959-1",
            "uniprot_ac": "P62959",
            "uniprot_id": "HINT1_RAT",
            "refseq_ac": "NP_001103077",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Adenosine 5'-monophosphoramidase HINT1",
                    "type": "recommended"
                },
                {
                    "name": "17 kDa inhibitor of protein kinase C",
                    "type": "synonym"
                },
                {
                    "name": "3.4.22.-",
                    "type": "synonym"
                },
                {
                    "name": "3.9.1.-",
                    "type": "synonym"
                },
                {
                    "name": "Desumoylating isopeptidase HINT1",
                    "type": "synonym"
                },
                {
                    "name": "Histidine triad nucleotide-binding protein 1",
                    "type": "synonym"
                },
                {
                    "name": "PKCI-1",
                    "type": "synonym"
                },
                {
                    "name": "Protein kinase C inhibitor 1",
                    "type": "synonym"
                },
                {
                    "name": "Protein kinase C-interacting protein 1",
                    "type": "synonym"
                },
                {
                    "name": "adenosine 5'-monophosphoramidase HINT1",
                    "type": "synonym"
                },
                {
                    "name": "adenosine 5'-monophosphoramidase",
                    "type": "synonym"
                },
                {
                    "name": "desumoylating isopeptidase HINT1",
                    "type": "synonym"
                },
                {
                    "name": "protein kinase C inhibitor 1",
                    "type": "synonym"
                },
                {
                    "name": "protein kinase C, iota",
                    "type": "synonym"
                },
                {
                    "name": "protein kinase C-interacting protein 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Hint1l2",
                    "type": "recommended"
                },
                {
                    "name": "Hint1",
                    "type": "recommended"
                },
                {
                    "name": "Hint1l1",
                    "type": "synonym"
                },
                {
                    "name": "Hint1l2",
                    "type": "synonym"
                },
                {
                    "name": "Hint1",
                    "type": "synonym"
                },
                {
                    "name": "Hint",
                    "type": "synonym"
                },
                {
                    "name": "LOC684427",
                    "type": "synonym"
                },
                {
                    "name": "Pkci1",
                    "type": "synonym"
                },
                {
                    "name": "Pkci",
                    "type": "synonym"
                },
                {
                    "name": "Prkci",
                    "type": "synonym"
                }
            ],
            "record_id": "P62959-1",
            "evidence": [
                {
                    "id": "0050526",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050526"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "D4AB01-1",
            "uniprot_ac": "D4AB01",
            "uniprot_id": "D4AB01_RAT",
            "refseq_ac": "",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Histidine triad nucleotide binding protein 2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Hint2",
                    "type": "recommended"
                }
            ],
            "record_id": "D4AB01-1",
            "evidence": [
                {
                    "id": "0050526",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050526"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9BX68-1",
            "uniprot_ac": "Q9BX68",
            "uniprot_id": "HINT2_HUMAN",
            "refseq_ac": "NP_115982",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Adenosine 5'-monophosphoramidase HINT2",
                    "type": "recommended"
                },
                {
                    "name": "3.9.1.-",
                    "type": "synonym"
                },
                {
                    "name": "HINT-2",
                    "type": "synonym"
                },
                {
                    "name": "HINT-3",
                    "type": "synonym"
                },
                {
                    "name": "HIT-17kDa",
                    "type": "synonym"
                },
                {
                    "name": "Histidine triad nucleotide-binding protein 2, mitochondrial",
                    "type": "synonym"
                },
                {
                    "name": "PKCI-1-related HIT protein",
                    "type": "synonym"
                },
                {
                    "name": "adenosine 5'-monophosphoramidase HINT2 precursor",
                    "type": "synonym"
                },
                {
                    "name": "adenosine 5'-monophosphoramidase HINT2",
                    "type": "synonym"
                },
                {
                    "name": "histidine triad nucleotide-binding protein 2, mitochondrial",
                    "type": "synonym"
                },
                {
                    "name": "protein kinase C inhibitor-2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "HINT2",
                    "type": "recommended"
                },
                {
                    "name": "HINT2",
                    "type": "synonym"
                },
                {
                    "name": "HIT-17",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9BX68-1",
            "evidence": [
                {
                    "id": "0050526",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050526"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0050526"
}