{
    "disease_id": "DOID:0080038",
    "recommended_name": {
        "id": "DOID:0080038",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0080038",
        "name": "pycnodysostosis",
        "description": "An osteochondrodysplasia that has_material_basis_in a mutation in the CTSK gene which results_in dwarfism, brittle bones, osteopetrosis, shortening of the distal phalanges."
    },
    "synonyms": [
        {
            "id": "MONDO:0009940",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009940",
            "name": "pycnodysostosis",
            "description": "Pycnodysostosis is a genetic lysosomal disease characterized by short stature, increased density of the bones (osteosclerosis/osteopetrosis), and brittle bones. Other features may include underdevelopment of the tips of the fingers with absent or small nails, an abnormal collarbone (clavicle), distinctive facial features including a large head with a small face and chin, underdeveloped facial bones, a high forehead, and dental abnormalities.Pycnodysostosis is an autosomal recessive condition caused by mutations in the gene that codes the enzyme cathepsin K (CTSK) on chromosome 1q21. The diagnosis of pycnodysostosis is based on physical features and X-ray findings. Molecular genetic testing is available. Treatment should address the symptoms found in each patient and may include orthopedic monitoring, treatment of fractures, appropriate dental care, and craniofacial surgery."
        },
        {
            "id": "MONDO:0009940",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009940",
            "name": "Pyknodysostosis",
            "description": ""
        },
        {
            "id": "MONDO:0009940",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009940",
            "name": "pycnodysostosis",
            "description": ""
        },
        {
            "id": "MONDO:0009940",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009940",
            "name": "PKND",
            "description": ""
        },
        {
            "id": "MIM:265800",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/265800",
            "name": "Pycnodysostosis",
            "description": "Pycnodysostosis"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0080038"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0080038",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080038",
            "categories": []
        },
        {
            "id": "MONDO:0009940",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009940",
            "categories": []
        },
        {
            "id": "MIM:265800",
            "database": "MIM",
            "url": "https://www.omim.org/entry/265800",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "P55097-1",
            "uniprot_ac": "P55097",
            "uniprot_id": "CATK_MOUSE",
            "refseq_ac": "NP_031828",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Cathepsin K",
                    "type": "recommended"
                },
                {
                    "name": "3.4.22.38",
                    "type": "synonym"
                },
                {
                    "name": "Cat K",
                    "type": "synonym"
                },
                {
                    "name": "cathepsin K preproprotein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Ctsk",
                    "type": "recommended"
                },
                {
                    "name": "Ctsk",
                    "type": "synonym"
                },
                {
                    "name": "MMS10-Q",
                    "type": "synonym"
                },
                {
                    "name": "Ms10q",
                    "type": "synonym"
                },
                {
                    "name": "catK",
                    "type": "synonym"
                }
            ],
            "record_id": "P55097-1",
            "evidence": [
                {
                    "id": "0080038",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080038"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P05017-1",
            "uniprot_ac": "P05017",
            "uniprot_id": "IGF1_MOUSE",
            "refseq_ac": "NP_001104745",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Insulin-like growth factor 1",
                    "type": "recommended"
                },
                {
                    "name": "IGF-I",
                    "type": "synonym"
                },
                {
                    "name": "Insulin-like growth factor I",
                    "type": "synonym"
                },
                {
                    "name": "Somatomedin",
                    "type": "synonym"
                },
                {
                    "name": "insulin-like growth factor 1 isoform 4 preproprotein",
                    "type": "synonym"
                },
                {
                    "name": "insulin-like growth factor I",
                    "type": "synonym"
                },
                {
                    "name": "somatomedin",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Igf1",
                    "type": "recommended"
                },
                {
                    "name": "C730016P09Rik",
                    "type": "synonym"
                },
                {
                    "name": "Igf-1",
                    "type": "synonym"
                },
                {
                    "name": "Igf-I",
                    "type": "synonym"
                },
                {
                    "name": "Igf1",
                    "type": "synonym"
                }
            ],
            "record_id": "P05017-1",
            "evidence": [
                {
                    "id": "0080038",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080038"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P43235-1",
            "uniprot_ac": "P43235",
            "uniprot_id": "CATK_HUMAN",
            "refseq_ac": "NP_000387",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Cathepsin K",
                    "type": "recommended"
                },
                {
                    "name": "3.4.22.38",
                    "type": "synonym"
                },
                {
                    "name": "Cathepsin O2",
                    "type": "synonym"
                },
                {
                    "name": "Cathepsin O",
                    "type": "synonym"
                },
                {
                    "name": "Cathepsin X",
                    "type": "synonym"
                },
                {
                    "name": "cathepsin K preproprotein",
                    "type": "synonym"
                },
                {
                    "name": "cathepsin O1",
                    "type": "synonym"
                },
                {
                    "name": "cathepsin O2",
                    "type": "synonym"
                },
                {
                    "name": "cathepsin X",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "CTSK",
                    "type": "recommended"
                },
                {
                    "name": "CTS02",
                    "type": "synonym"
                },
                {
                    "name": "CTSK",
                    "type": "synonym"
                },
                {
                    "name": "CTSO1",
                    "type": "synonym"
                },
                {
                    "name": "CTSO2",
                    "type": "synonym"
                },
                {
                    "name": "CTSO",
                    "type": "synonym"
                },
                {
                    "name": "PKND",
                    "type": "synonym"
                },
                {
                    "name": "PYCD",
                    "type": "synonym"
                }
            ],
            "record_id": "P43235-1",
            "evidence": [
                {
                    "id": "265800",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/265800"
                },
                {
                    "id": "0080038",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080038"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "O35186-1",
            "uniprot_ac": "O35186",
            "uniprot_id": "CATK_RAT",
            "refseq_ac": "NP_113748",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Cathepsin K",
                    "type": "recommended"
                },
                {
                    "name": "3.4.22.38",
                    "type": "synonym"
                },
                {
                    "name": "cathepsin K precursor",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Ctsk",
                    "type": "recommended"
                },
                {
                    "name": "Ctsk",
                    "type": "synonym"
                }
            ],
            "record_id": "O35186-1",
            "evidence": [
                {
                    "id": "0080038",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080038"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P08025-1",
            "uniprot_ac": "P08025",
            "uniprot_id": "IGF1_RAT",
            "refseq_ac": "NP_001075946",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Insulin-like growth factor 1",
                    "type": "recommended"
                },
                {
                    "name": "IGF-I",
                    "type": "synonym"
                },
                {
                    "name": "Insulin-like growth factor I",
                    "type": "synonym"
                },
                {
                    "name": "Somatomedin",
                    "type": "synonym"
                },
                {
                    "name": "insulin-like growth factor 1 isoform a preproprotein",
                    "type": "synonym"
                },
                {
                    "name": "somatomedin",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Igf1",
                    "type": "recommended"
                },
                {
                    "name": "IGF",
                    "type": "synonym"
                },
                {
                    "name": "Igf-1",
                    "type": "synonym"
                },
                {
                    "name": "Igf1",
                    "type": "synonym"
                }
            ],
            "record_id": "P08025-1",
            "evidence": [
                {
                    "id": "0080038",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080038"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P21451-1",
            "uniprot_ac": "P21451",
            "uniprot_id": "EDNRB_RAT",
            "refseq_ac": "NP_059029",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Endothelin receptor type B",
                    "type": "recommended"
                },
                {
                    "name": "ET-BR",
                    "type": "synonym"
                },
                {
                    "name": "ET-B",
                    "type": "synonym"
                },
                {
                    "name": "Endothelin receptor non-selective type",
                    "type": "synonym"
                },
                {
                    "name": "endothelin B receptor",
                    "type": "synonym"
                },
                {
                    "name": "endothelin receptor non-selective type",
                    "type": "synonym"
                },
                {
                    "name": "endothelin receptor type B precursor",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Ednrb",
                    "type": "recommended"
                },
                {
                    "name": "Ednra",
                    "type": "synonym"
                },
                {
                    "name": "Ednrb",
                    "type": "synonym"
                },
                {
                    "name": "Etb",
                    "type": "synonym"
                }
            ],
            "record_id": "P21451-1",
            "evidence": [
                {
                    "id": "0080038",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080038"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P05019-1",
            "uniprot_ac": "P05019",
            "uniprot_id": "IGF1_HUMAN",
            "refseq_ac": "NP_000609",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Insulin-like growth factor 1",
                    "type": "recommended"
                },
                {
                    "name": "IGF-I",
                    "type": "synonym"
                },
                {
                    "name": "Insulin-like growth factor I",
                    "type": "synonym"
                },
                {
                    "name": "MGF",
                    "type": "synonym"
                },
                {
                    "name": "Mechano growth factor",
                    "type": "synonym"
                },
                {
                    "name": "Somatomedin-C",
                    "type": "synonym"
                },
                {
                    "name": "insulin-like growth factor 1 (somatomedin C)",
                    "type": "synonym"
                },
                {
                    "name": "insulin-like growth factor 1 isoform 4 preproprotein",
                    "type": "synonym"
                },
                {
                    "name": "insulin-like growth factor IB",
                    "type": "synonym"
                },
                {
                    "name": "mechano growth factor",
                    "type": "synonym"
                },
                {
                    "name": "somatomedin-C",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "IGF1",
                    "type": "recommended"
                },
                {
                    "name": "IBP1",
                    "type": "synonym"
                },
                {
                    "name": "IGF-1",
                    "type": "synonym"
                },
                {
                    "name": "IGF-I",
                    "type": "synonym"
                },
                {
                    "name": "IGF1",
                    "type": "synonym"
                },
                {
                    "name": "IGFI",
                    "type": "synonym"
                },
                {
                    "name": "IGF",
                    "type": "synonym"
                },
                {
                    "name": "MGF",
                    "type": "synonym"
                }
            ],
            "record_id": "P05019-1",
            "evidence": [
                {
                    "id": "0080038",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080038"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0080038"
}