{
    "disease_id": "DOID:0110976",
    "recommended_name": {
        "id": "DOID:0110976",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0110976",
        "name": "brachydactyly type E2",
        "description": "A characterized byautosomal dominant inheritance of short stature, tooth abnormalities, and short metacarpals and metatarsals that has_material_basis_in heterozygous mutation in the PTHLH gene on chromosome 12p."
    },
    "synonyms": [
        {
            "id": "DOID:0110976",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110976",
            "name": "BDE2",
            "description": ""
        },
        {
            "id": "MONDO:0013244",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013244",
            "name": "brachydactyly type E2",
            "description": "Any brachydactyly type E in which the cause of the disease is a mutation in the PTHLH gene."
        },
        {
            "id": "MONDO:0013244",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013244",
            "name": "BDE2",
            "description": ""
        },
        {
            "id": "MONDO:0013244",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013244",
            "name": "PTHLH brachydactyly type E",
            "description": ""
        },
        {
            "id": "MONDO:0013244",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013244",
            "name": "brachydactyly type E caused by mutation in PTHLH",
            "description": ""
        },
        {
            "id": "MONDO:0013244",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013244",
            "name": "brachydactyly type E2",
            "description": ""
        },
        {
            "id": "MONDO:0013244",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013244",
            "name": "brachydactyly, type E2",
            "description": ""
        },
        {
            "id": "MIM:613382",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/613382",
            "name": "Brachydactyly E2",
            "description": "Brachydactyly E2"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0110976"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0110976",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110976",
            "categories": []
        },
        {
            "id": "MONDO:0013244",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013244",
            "categories": []
        },
        {
            "id": "MIM:613382",
            "database": "MIM",
            "url": "https://www.omim.org/entry/613382",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "P22858-1",
            "uniprot_ac": "P22858",
            "uniprot_id": "PTHR_MOUSE",
            "refseq_ac": "",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Parathyroid hormone-related protein",
                    "type": "recommended"
                },
                {
                    "name": "PLP",
                    "type": "synonym"
                },
                {
                    "name": "PTH-rP",
                    "type": "synonym"
                },
                {
                    "name": "PTHrP",
                    "type": "synonym"
                },
                {
                    "name": "Parathyroid hormone-like protein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Pthlh",
                    "type": "recommended"
                },
                {
                    "name": "Pthrp",
                    "type": "synonym"
                }
            ],
            "record_id": "P22858-1",
            "evidence": [
                {
                    "id": "0110976",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110976"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P12272-1",
            "uniprot_ac": "P12272",
            "uniprot_id": "PTHR_HUMAN",
            "refseq_ac": "NP_002811",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Parathyroid hormone-related protein",
                    "type": "recommended"
                },
                {
                    "name": "PLP",
                    "type": "synonym"
                },
                {
                    "name": "PTH-rP",
                    "type": "synonym"
                },
                {
                    "name": "PTH-related protein",
                    "type": "synonym"
                },
                {
                    "name": "PTHrP[107-139]",
                    "type": "synonym"
                },
                {
                    "name": "PTHrP",
                    "type": "synonym"
                },
                {
                    "name": "Parathyroid hormone-like protein",
                    "type": "synonym"
                },
                {
                    "name": "osteostatin",
                    "type": "synonym"
                },
                {
                    "name": "parathyroid hormone-like hormone preproprotein",
                    "type": "synonym"
                },
                {
                    "name": "parathyroid hormone-like related protein",
                    "type": "synonym"
                },
                {
                    "name": "parathyroid hormone-related protein isoform 2 preproprotein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "PTHLH",
                    "type": "recommended"
                },
                {
                    "name": "BDE2",
                    "type": "synonym"
                },
                {
                    "name": "HHM",
                    "type": "synonym"
                },
                {
                    "name": "PLP",
                    "type": "synonym"
                },
                {
                    "name": "PTHLH",
                    "type": "synonym"
                },
                {
                    "name": "PTHRP",
                    "type": "synonym"
                },
                {
                    "name": "PTHR",
                    "type": "synonym"
                }
            ],
            "record_id": "P12272-1",
            "evidence": [
                {
                    "id": "613382",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/613382"
                },
                {
                    "id": "0110976",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110976"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P13085-1",
            "uniprot_ac": "P13085",
            "uniprot_id": "PTHR_RAT",
            "refseq_ac": "NP_036768",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Parathyroid hormone-related protein",
                    "type": "recommended"
                },
                {
                    "name": "PLP",
                    "type": "synonym"
                },
                {
                    "name": "PTH-rP",
                    "type": "synonym"
                },
                {
                    "name": "PTHrP",
                    "type": "synonym"
                },
                {
                    "name": "Parathyroid hormone-like protein",
                    "type": "synonym"
                },
                {
                    "name": "parathyroid hormone-like peptide",
                    "type": "synonym"
                },
                {
                    "name": "parathyroid hormone-like protein",
                    "type": "synonym"
                },
                {
                    "name": "parathyroid hormone-related protein preproprotein",
                    "type": "synonym"
                },
                {
                    "name": "parathyroid hormone-related protein",
                    "type": "synonym"
                },
                {
                    "name": "parathyroid-like peptide",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Pthlh",
                    "type": "recommended"
                },
                {
                    "name": "PLP",
                    "type": "synonym"
                },
                {
                    "name": "Pthlh",
                    "type": "synonym"
                },
                {
                    "name": "Pthrp",
                    "type": "synonym"
                }
            ],
            "record_id": "P13085-1",
            "evidence": [
                {
                    "id": "0110976",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110976"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0110976"
}