{
    "disease_id": "DOID:0080214",
    "recommended_name": {
        "id": "DOID:0080214",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0080214",
        "name": "punctate palmoplantar keratoderma type I",
        "description": "A punctate palmoplantar keratoderma that is characterized by multiple hyperkeratotic centrally indented papules that develop in early adolescence or later and are irregularly distributed on the palms and soles."
    },
    "synonyms": [
        {
            "id": "DOID:0080214",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080214",
            "name": "punctate palmoplantar keratoderma type 1A",
            "description": ""
        },
        {
            "id": "DOID:0080214",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080214",
            "name": "punctate palmoplantar keratoderma type 1B",
            "description": ""
        },
        {
            "id": "MONDO:0007858",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007858",
            "name": "palmoplantar keratoderma, punctate type 1A",
            "description": "Any punctate palmoplantar keratoderma in which the cause of the disease is a mutation in the AAGAB gene."
        },
        {
            "id": "MONDO:0007858",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007858",
            "name": "AAGAB punctate palmoplantar keratoderma",
            "description": ""
        },
        {
            "id": "MONDO:0007858",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007858",
            "name": "keratoderma, palmoplantar, punctate type IA",
            "description": ""
        },
        {
            "id": "MONDO:0007858",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007858",
            "name": "palmoplantar keratoderma, punctate type 1A",
            "description": ""
        },
        {
            "id": "MONDO:0007858",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007858",
            "name": "punctate palmoplantar keratoderma caused by mutation in AAGAB",
            "description": ""
        },
        {
            "id": "MONDO:0007858",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007858",
            "name": "PPKP1A",
            "description": ""
        },
        {
            "id": "MONDO:0007858",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007858",
            "name": "palmoplantar keratoderma, punctate type IA",
            "description": ""
        },
        {
            "id": "MONDO:0013980",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013980",
            "name": "palmoplantar keratoderma, punctate type ib",
            "description": ""
        },
        {
            "id": "MONDO:0013980",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013980",
            "name": "PPKP1B",
            "description": ""
        },
        {
            "id": "MONDO:0013980",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013980",
            "name": "keratoderma, palmoplantar, punctate type IB",
            "description": ""
        },
        {
            "id": "MONDO:0013980",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013980",
            "name": "palmoplantar keratoderma, punctate type IB",
            "description": ""
        },
        {
            "id": "MIM:148600",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/148600",
            "name": "Keratoderma, palmoplantar, punctate 1A",
            "description": "Keratoderma, palmoplantar, punctate 1A"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0080214"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0080214",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080214",
            "categories": []
        },
        {
            "id": "MONDO:0007858",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007858",
            "categories": []
        },
        {
            "id": "MONDO:0013980",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013980",
            "categories": []
        },
        {
            "id": "MIM:148600",
            "database": "MIM",
            "url": "https://www.omim.org/entry/148600",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q8R2R3-1",
            "uniprot_ac": "Q8R2R3",
            "uniprot_id": "AAGAB_MOUSE",
            "refseq_ac": "NP_080133",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Alpha- and gamma-adaptin-binding protein p34",
                    "type": "recommended"
                },
                {
                    "name": "alpha- and gamma-adaptin-binding protein p34 isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "alpha- and gamma-adaptin-binding protein p34",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Aagab",
                    "type": "recommended"
                },
                {
                    "name": "2310007F21Rik",
                    "type": "synonym"
                },
                {
                    "name": "Aagab",
                    "type": "synonym"
                },
                {
                    "name": "p34",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8R2R3-1",
            "evidence": [
                {
                    "id": "0080214",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080214"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q6PD74-1",
            "uniprot_ac": "Q6PD74",
            "uniprot_id": "AAGAB_HUMAN",
            "refseq_ac": "NP_001258814",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Alpha- and gamma-adaptin-binding protein p34",
                    "type": "recommended"
                },
                {
                    "name": "alpha- and gamma-adaptin-binding protein p34 isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "alpha- and gamma-adaptin-binding protein p34",
                    "type": "synonym"
                },
                {
                    "name": "punctate palmoplantar keratoderma type I",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "AAGAB",
                    "type": "recommended"
                },
                {
                    "name": "AAGAB",
                    "type": "synonym"
                },
                {
                    "name": "KPPP1",
                    "type": "synonym"
                },
                {
                    "name": "PPKP1A",
                    "type": "synonym"
                },
                {
                    "name": "PPKP1",
                    "type": "synonym"
                },
                {
                    "name": "p34",
                    "type": "synonym"
                }
            ],
            "record_id": "Q6PD74-1",
            "evidence": [
                {
                    "id": "148600",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/148600"
                },
                {
                    "id": "0080214",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080214"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9R0Z7-1",
            "uniprot_ac": "Q9R0Z7",
            "uniprot_id": "AAGAB_RAT",
            "refseq_ac": "NP_599225",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Alpha- and gamma-adaptin-binding protein p34",
                    "type": "recommended"
                },
                {
                    "name": "alpha- and gamma-adaptin-binding protein p34",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Aagab",
                    "type": "recommended"
                },
                {
                    "name": "Aagab",
                    "type": "synonym"
                },
                {
                    "name": "P34",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9R0Z7-1",
            "evidence": [
                {
                    "id": "0080214",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080214"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9VU04-1",
            "uniprot_ac": "Q9VU04",
            "uniprot_id": "Q9VU04_DROME",
            "refseq_ac": "NP_729822",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "CG32109-PA",
                    "type": "synonym"
                },
                {
                    "name": "Uncharacterized protein",
                    "type": "synonym"
                },
                {
                    "name": "uncharacterized protein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Dmel\\CG32109",
                    "type": "recommended"
                },
                {
                    "name": "CG10982",
                    "type": "synonym"
                },
                {
                    "name": "CG32109",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG32109",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG32109",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9VU04-1",
            "evidence": [
                {
                    "id": "0080214",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080214"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0080214"
}