{
    "disease_id": "DOID:0080051",
    "recommended_name": {
        "id": "DOID:0080051",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0080051",
        "name": "acromesomelic dysplasia, Hunter-Thompson type",
        "description": "An acromesomelic dysplasia that has_material_basis_in mutation in AMDH gene which results_in normal axial skeleton but fused bones in the located_in hand or located_in foot."
    },
    "synonyms": [
        {
            "id": "DOID:0080051",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080051",
            "name": "acromesomelic dwarfism",
            "description": ""
        },
        {
            "id": "DOID:0080051",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080051",
            "name": "acromesomelic dysplasia-2C",
            "description": ""
        },
        {
            "id": "MONDO:0008717",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008717",
            "name": "acromesomelic dysplasia 2C, Hunter-Thompson type",
            "description": "Acromesomelic dysplasia, Hunter-Thomson type is an autosomal recessively inherited form of acromesomelic dysplasia characterized by severe dwarfism (adult height approximately 120 cm) with abnormalities limited to the limbs (affecting the lower limbs more than upper limbs, with middle and distal segments being the most affected), severe shortening, absence or fusion of tubular bones of hands and feet and large joint dislocations. As seen in acromesomelic dysplasia, Grebe type and acromesomelic dysplasia, Maroteaux type, facial features and intelligence are normal."
        },
        {
            "id": "MONDO:0008717",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008717",
            "name": "acromesomelic dwarfism",
            "description": ""
        },
        {
            "id": "MONDO:0008717",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008717",
            "name": "acromesomelic dysplasia 2C, Hunter-Thompson type",
            "description": ""
        },
        {
            "id": "MONDO:0008717",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008717",
            "name": "acromesomelic dysplasia, Hunter-Thompson type",
            "description": ""
        },
        {
            "id": "MONDO:0008717",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008717",
            "name": "AMDH",
            "description": ""
        },
        {
            "id": "MONDO:0008717",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008717",
            "name": "acromesomelic dysplasia Hunter Thompson type",
            "description": ""
        },
        {
            "id": "MIM:201250",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/201250",
            "name": "Acromesomelic dysplasia 2C",
            "description": "Acromesomelic dysplasia 2C"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0080051"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0080051",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080051",
            "categories": []
        },
        {
            "id": "MONDO:0008717",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008717",
            "categories": []
        },
        {
            "id": "MIM:201250",
            "database": "MIM",
            "url": "https://www.omim.org/entry/201250",
            "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": "0080051",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080051"
                }
            ]
        },
        {
            "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": "0080051",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080051"
                }
            ]
        },
        {
            "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": "201250",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/201250"
                },
                {
                    "id": "0080051",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080051"
                }
            ]
        },
        {
            "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": "0080051",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080051"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0080051"
}