{
    "disease_id": "DOID:0060843",
    "recommended_name": {
        "id": "DOID:0060843",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0060843",
        "name": "hereditary neuropathy with liability to pressure palsies",
        "description": "A neuropathy characterized by autosomal dominant inheritance of peroneal muscle weakness, peripheral neuropathy, hyporeflexia, tomacula, segmental demyelination/remyelination, decreased motor nerve conduction that has_material_basis_in deletion or point mutation of the PMP22 gene on chromosome 17p12."
    },
    "synonyms": [
        {
            "id": "DOID:0060843",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060843",
            "name": "HNPP",
            "description": ""
        },
        {
            "id": "DOID:0060843",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060843",
            "name": "current pressure-sensitive neuropathy",
            "description": ""
        },
        {
            "id": "DOID:0060843",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060843",
            "name": "familial recurrent polyneuropathy",
            "description": ""
        },
        {
            "id": "DOID:0060843",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060843",
            "name": "heterozygous microdeletion 17p11.2p12",
            "description": ""
        },
        {
            "id": "DOID:0060843",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060843",
            "name": "potato-grubbing palsy",
            "description": ""
        },
        {
            "id": "DOID:0060843",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060843",
            "name": "tomaculous neuropathy",
            "description": ""
        },
        {
            "id": "DOID:0060843",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060843",
            "name": "tulip-bulb digger's palsy",
            "description": ""
        },
        {
            "id": "MONDO:0008087",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008087",
            "name": "hereditary neuropathy with liability to pressure palsies",
            "description": "Hereditary neuropathy with liability to pressure palsies (HNPP) is an inherited peripheral nerve disorder characterized by recurrent mononeuropathy usually triggered by minor physical activities."
        },
        {
            "id": "MONDO:0008087",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008087",
            "name": "HNPP",
            "description": ""
        },
        {
            "id": "MONDO:0008087",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008087",
            "name": "Tomaculous neuropathy",
            "description": ""
        },
        {
            "id": "MONDO:0008087",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008087",
            "name": "current pressure-sensitive neuropathy",
            "description": ""
        },
        {
            "id": "MONDO:0008087",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008087",
            "name": "hereditary liability to pressure palsies",
            "description": ""
        },
        {
            "id": "MONDO:0008087",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008087",
            "name": "hereditary neuropathy with liability to pressure palsies",
            "description": ""
        },
        {
            "id": "MONDO:0008087",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008087",
            "name": "heterozygous microdeletion 17p11.2p12",
            "description": ""
        },
        {
            "id": "MONDO:0008087",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008087",
            "name": "neuropathy, recurrent, with pressure palsies",
            "description": ""
        },
        {
            "id": "MONDO:0008087",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008087",
            "name": "potato-grubbing palsy",
            "description": ""
        },
        {
            "id": "MONDO:0008087",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008087",
            "name": "tomaculous neuropathy",
            "description": ""
        },
        {
            "id": "MONDO:0008087",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008087",
            "name": "tulip-bulb digger's palsy",
            "description": ""
        },
        {
            "id": "MONDO:0008087",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008087",
            "name": "hereditary neuropathy with liability to pressure palsy",
            "description": ""
        },
        {
            "id": "MONDO:0008087",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008087",
            "name": "neuropathy, hereditary, with liability to pressure palsies",
            "description": ""
        },
        {
            "id": "MIM:162500",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/162500",
            "name": "Hereditary neuropathy with liability to pressure palsies",
            "description": "Hereditary neuropathy with liability to pressure palsies"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0060843"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0060843",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060843",
            "categories": []
        },
        {
            "id": "MONDO:0008087",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008087",
            "categories": []
        },
        {
            "id": "MIM:162500",
            "database": "MIM",
            "url": "https://www.omim.org/entry/162500",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "P16646-1",
            "uniprot_ac": "P16646",
            "uniprot_id": "PMP22_MOUSE",
            "refseq_ac": "NP_001289184",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Peripheral myelin protein 22",
                    "type": "recommended"
                },
                {
                    "name": "GAS-3",
                    "type": "synonym"
                },
                {
                    "name": "Growth arrest-specific protein 3",
                    "type": "synonym"
                },
                {
                    "name": "PMP-22",
                    "type": "synonym"
                },
                {
                    "name": "growth arrest-specific protein 3",
                    "type": "synonym"
                },
                {
                    "name": "peripheral myelin protein 22 isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "peripheral myelin protein, 22 kDa",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Pmp22",
                    "type": "recommended"
                },
                {
                    "name": "Gas-3",
                    "type": "synonym"
                },
                {
                    "name": "Gas3",
                    "type": "synonym"
                },
                {
                    "name": "HNPP",
                    "type": "synonym"
                },
                {
                    "name": "PMP-22",
                    "type": "synonym"
                },
                {
                    "name": "Pmp-22",
                    "type": "synonym"
                },
                {
                    "name": "Pmp22",
                    "type": "synonym"
                },
                {
                    "name": "TRE002",
                    "type": "synonym"
                },
                {
                    "name": "Tr",
                    "type": "synonym"
                },
                {
                    "name": "trembler",
                    "type": "synonym"
                }
            ],
            "record_id": "P16646-1",
            "evidence": [
                {
                    "id": "0060843",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060843"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q01453-1",
            "uniprot_ac": "Q01453",
            "uniprot_id": "PMP22_HUMAN",
            "refseq_ac": "NP_000295",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Peripheral myelin protein 22",
                    "type": "recommended"
                },
                {
                    "name": "Charcot-Marie-Tooth neuropathy 1A (greatly reduced nerve conduction velocity, hereditary motor sensory neuropathy Ia)",
                    "type": "synonym"
                },
                {
                    "name": "GAS-3",
                    "type": "synonym"
                },
                {
                    "name": "Growth arrest-specific protein 3",
                    "type": "synonym"
                },
                {
                    "name": "PMP-22",
                    "type": "synonym"
                },
                {
                    "name": "growth arrest-specific protein 3",
                    "type": "synonym"
                },
                {
                    "name": "peripheral myelin protein 22 isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "peripheral myelin protein 22 kDa",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "PMP22",
                    "type": "recommended"
                },
                {
                    "name": "CIDP",
                    "type": "synonym"
                },
                {
                    "name": "CMT1A",
                    "type": "synonym"
                },
                {
                    "name": "CMT1E",
                    "type": "synonym"
                },
                {
                    "name": "DSS",
                    "type": "synonym"
                },
                {
                    "name": "GAS-3",
                    "type": "synonym"
                },
                {
                    "name": "GAS3",
                    "type": "synonym"
                },
                {
                    "name": "HMSNIA",
                    "type": "synonym"
                },
                {
                    "name": "HNPP",
                    "type": "synonym"
                },
                {
                    "name": "PMP22",
                    "type": "synonym"
                },
                {
                    "name": "Sp110",
                    "type": "synonym"
                }
            ],
            "record_id": "Q01453-1",
            "evidence": [
                {
                    "id": "162500",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/162500"
                },
                {
                    "id": "0060843",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060843"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P25094-1",
            "uniprot_ac": "P25094",
            "uniprot_id": "PMP22_RAT",
            "refseq_ac": "NP_001416879",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Peripheral myelin protein 22",
                    "type": "recommended"
                },
                {
                    "name": "PMP-22",
                    "type": "synonym"
                },
                {
                    "name": "Protein CD25",
                    "type": "synonym"
                },
                {
                    "name": "SAG",
                    "type": "synonym"
                },
                {
                    "name": "SR13 myelin protein",
                    "type": "synonym"
                },
                {
                    "name": "Schwann cell membrane glycoprotein",
                    "type": "synonym"
                },
                {
                    "name": "peripheral myelin protein 22",
                    "type": "synonym"
                },
                {
                    "name": "schwann cell membrane glycoprotein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Pmp22",
                    "type": "recommended"
                },
                {
                    "name": "Cd25",
                    "type": "synonym"
                },
                {
                    "name": "Gas-3",
                    "type": "synonym"
                },
                {
                    "name": "Pmp-22",
                    "type": "synonym"
                },
                {
                    "name": "Pmp22",
                    "type": "synonym"
                }
            ],
            "record_id": "P25094-1",
            "evidence": [
                {
                    "id": "0060843",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060843"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9Y6X5-1",
            "uniprot_ac": "Q9Y6X5",
            "uniprot_id": "ENPP4_HUMAN",
            "refseq_ac": "NP_055751",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Bis(5'-adenosyl)-triphosphatase ENPP4",
                    "type": "recommended"
                },
                {
                    "name": "3.6.1.29",
                    "type": "synonym"
                },
                {
                    "name": "AP3A hydrolase",
                    "type": "synonym"
                },
                {
                    "name": "AP3Aase",
                    "type": "synonym"
                },
                {
                    "name": "E-NPP 4",
                    "type": "synonym"
                },
                {
                    "name": "Ectonucleotide pyrophosphatase/phosphodiesterase family member 4",
                    "type": "synonym"
                },
                {
                    "name": "NPP-4",
                    "type": "synonym"
                },
                {
                    "name": "bis(5'-adenosyl)-triphosphatase ENPP4 precursor",
                    "type": "synonym"
                },
                {
                    "name": "bis(5'-adenosyl)-triphosphatase ENPP4",
                    "type": "synonym"
                },
                {
                    "name": "ectonucleotide pyrophosphatase/phosphodiesterase 4 (putative function)",
                    "type": "synonym"
                },
                {
                    "name": "ectonucleotide pyrophosphatase/phosphodiesterase 4 (putative)",
                    "type": "synonym"
                },
                {
                    "name": "ectonucleotide pyrophosphatase/phosphodiesterase family member 4",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "ENPP4",
                    "type": "recommended"
                },
                {
                    "name": "ENPP4",
                    "type": "synonym"
                },
                {
                    "name": "KIAA0879",
                    "type": "synonym"
                },
                {
                    "name": "NPP4",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9Y6X5-1",
            "evidence": [
                {
                    "id": "0060843",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060843"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0060843"
}