{
    "disease_id": "DOID:0080052",
    "recommended_name": {
        "id": "DOID:0080052",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0080052",
        "name": "acromesomelic dysplasia, Grebe type",
        "description": "An acromesomelic dysplasia that has_material_basis_in homozygous or compound heterozygous mutation in the CDMP1 gene on chromosome 20q11."
    },
    "synonyms": [
        {
            "id": "DOID:0080052",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080052",
            "name": "grebe chondrodysplasia",
            "description": ""
        },
        {
            "id": "DOID:0080052",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080052",
            "name": "acromesomelic dysplasia-2A",
            "description": ""
        },
        {
            "id": "MONDO:0008703",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008703",
            "name": "acromesomelic dysplasia 2A",
            "description": "An autosomal recessively inherited form of acromesomelic dysplasia characterized by severe dwarfism at birth, abnormalities confined to limbs, severe shortening and deformity of long bones, fusion or absence of carpal and tarsal bones, ball shaped fingers and, occasionally, polydactyly and absent joints. As seen in acromesomelic dysplasia, Hunter-Thomson type and acromesomelic dysplasia, Maroteaux Type, facial features and intelligence are normal."
        },
        {
            "id": "MONDO:0008703",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008703",
            "name": "GREBE chondrodysplasia",
            "description": ""
        },
        {
            "id": "MONDO:0008703",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008703",
            "name": "Grebe chondrodysplasia",
            "description": ""
        },
        {
            "id": "MONDO:0008703",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008703",
            "name": "Grebe dysplasia",
            "description": ""
        },
        {
            "id": "MONDO:0008703",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008703",
            "name": "Langer-Saldino achondrogenesis",
            "description": ""
        },
        {
            "id": "MONDO:0008703",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008703",
            "name": "acromesomelic dysplasia 2A",
            "description": ""
        },
        {
            "id": "MONDO:0008703",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008703",
            "name": "acromesomelic dysplasia, Grebe type",
            "description": ""
        },
        {
            "id": "MONDO:0008703",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008703",
            "name": "chondrodysplasia, Grebe type",
            "description": ""
        },
        {
            "id": "MONDO:0008703",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008703",
            "name": "type II achondrogenesis",
            "description": ""
        },
        {
            "id": "MONDO:0008703",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008703",
            "name": "AMDG",
            "description": ""
        },
        {
            "id": "MONDO:0008703",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008703",
            "name": "Brazilian achondrogenesis",
            "description": ""
        },
        {
            "id": "MONDO:0008703",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008703",
            "name": "Grebe syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0008703",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008703",
            "name": "achondrogenesis type II (formerly)",
            "description": ""
        },
        {
            "id": "MIM:200700",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/200700",
            "name": "Acromesomelic dysplasia 2A",
            "description": "Acromesomelic dysplasia 2A"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0080052"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0080052",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080052",
            "categories": []
        },
        {
            "id": "MONDO:0008703",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008703",
            "categories": []
        },
        {
            "id": "MIM:200700",
            "database": "MIM",
            "url": "https://www.omim.org/entry/200700",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0ACD6B682-1",
            "uniprot_ac": "A0ACD6B682",
            "uniprot_id": "A0ACD6B682_DANRE",
            "refseq_ac": "XP_073810845",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Growth/differentiation factor 5 isoform X1",
                    "type": "synonym"
                },
                {
                    "name": "growth/differentiation factor 5 isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "gdf5",
                    "type": "recommended"
                },
                {
                    "name": "gdf5",
                    "type": "synonym"
                }
            ],
            "record_id": "A0ACD6B682-1",
            "evidence": [
                {
                    "id": "0080052",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080052"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P43027-1",
            "uniprot_ac": "P43027",
            "uniprot_id": "GDF5_MOUSE",
            "refseq_ac": "NP_032135",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Growth/differentiation factor 5",
                    "type": "recommended"
                },
                {
                    "name": "BMP-14",
                    "type": "synonym"
                },
                {
                    "name": "Bone morphogenetic protein 14",
                    "type": "synonym"
                },
                {
                    "name": "GDF-5",
                    "type": "synonym"
                },
                {
                    "name": "bone morphogenetic protein 14",
                    "type": "synonym"
                },
                {
                    "name": "cartilage-derived morphogenetic protein-1",
                    "type": "synonym"
                },
                {
                    "name": "growth/differentiation factor 5 preproprotein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Gdf5",
                    "type": "recommended"
                },
                {
                    "name": "BMP-14",
                    "type": "synonym"
                },
                {
                    "name": "Bmp14",
                    "type": "synonym"
                },
                {
                    "name": "Bp",
                    "type": "synonym"
                },
                {
                    "name": "Cdmp-1",
                    "type": "synonym"
                },
                {
                    "name": "Gdf-5",
                    "type": "synonym"
                },
                {
                    "name": "Gdf5",
                    "type": "synonym"
                },
                {
                    "name": "bp",
                    "type": "synonym"
                },
                {
                    "name": "brp",
                    "type": "synonym"
                }
            ],
            "record_id": "P43027-1",
            "evidence": [
                {
                    "id": "0080052",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080052"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P43026-1",
            "uniprot_ac": "P43026",
            "uniprot_id": "GDF5_HUMAN",
            "refseq_ac": "NP_000548",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Growth/differentiation factor 5",
                    "type": "recommended"
                },
                {
                    "name": "BMP-14",
                    "type": "synonym"
                },
                {
                    "name": "Bone morphogenetic protein 14",
                    "type": "synonym"
                },
                {
                    "name": "CDMP-1",
                    "type": "synonym"
                },
                {
                    "name": "Cartilage-derived morphogenetic protein 1",
                    "type": "synonym"
                },
                {
                    "name": "GDF-5",
                    "type": "synonym"
                },
                {
                    "name": "LAP-4",
                    "type": "synonym"
                },
                {
                    "name": "LPS-associated protein 4",
                    "type": "synonym"
                },
                {
                    "name": "Lipopolysaccharide-associated protein 4",
                    "type": "synonym"
                },
                {
                    "name": "Radotermin",
                    "type": "synonym"
                },
                {
                    "name": "bone morphogenetic protein 14",
                    "type": "synonym"
                },
                {
                    "name": "cartilage-derived morphogenetic protein-1",
                    "type": "synonym"
                },
                {
                    "name": "growth/differentiation factor 5 preproprotein",
                    "type": "synonym"
                },
                {
                    "name": "lipopolysaccharide-associated protein 4",
                    "type": "synonym"
                },
                {
                    "name": "radotermin",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "GDF5",
                    "type": "recommended"
                },
                {
                    "name": "BDA1C",
                    "type": "synonym"
                },
                {
                    "name": "BMP-14",
                    "type": "synonym"
                },
                {
                    "name": "BMP14",
                    "type": "synonym"
                },
                {
                    "name": "CDMP1",
                    "type": "synonym"
                },
                {
                    "name": "DUPANS",
                    "type": "synonym"
                },
                {
                    "name": "GDF5",
                    "type": "synonym"
                },
                {
                    "name": "LAP-4",
                    "type": "synonym"
                },
                {
                    "name": "LAP4",
                    "type": "synonym"
                },
                {
                    "name": "OS5",
                    "type": "synonym"
                },
                {
                    "name": "SYM1B",
                    "type": "synonym"
                },
                {
                    "name": "SYNS2",
                    "type": "synonym"
                }
            ],
            "record_id": "P43026-1",
            "evidence": [
                {
                    "id": "200700",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/200700"
                },
                {
                    "id": "0080052",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080052"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "M0RAY4-1",
            "uniprot_ac": "M0RAY4",
            "uniprot_id": "M0RAY4_RAT",
            "refseq_ac": "NP_001385590",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Growth/differentiation factor 5",
                    "type": "recommended"
                },
                {
                    "name": "Bone morphogenetic protein 14",
                    "type": "synonym"
                },
                {
                    "name": "cartilage-derived morphogenetic protein 1",
                    "type": "synonym"
                },
                {
                    "name": "growth/differentiation factor 5 preproprotein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Gdf5",
                    "type": "recommended"
                },
                {
                    "name": "Cdmp1",
                    "type": "synonym"
                },
                {
                    "name": "Gdf5",
                    "type": "synonym"
                }
            ],
            "record_id": "M0RAY4-1",
            "evidence": [
                {
                    "id": "0080052",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080052"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0080052"
}