{
    "disease_id": "DOID:0081127",
    "recommended_name": {
        "id": "DOID:0081127",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0081127",
        "name": "mandibuloacral dysplasia",
        "description": "A bone development disease that is characterized by underdevelopment of the lower jaw and the collarbone, bone loss at the ends of the fingers and toes, skin degeneration, and partial lipodystrophy, a condition marked by selective loss of body fat from various areas of the body."
    },
    "synonyms": [
        {
            "id": "MONDO:0009557",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009557",
            "name": "mandibuloacral dysplasia with type A lipodystrophy",
            "description": "A rare, autosomal recessive inherited disorder caused by mutations in the LMNA gene. It is characterized by growth retardation, craniofacial abnormalities with mandibular hypoplasia, skeletal abnormalities with progressive osteolysis of the distal phalanges and clavicles, and mottled or patchy skin pigmentation. The affected individuals have a marked acral loss of adipose tissue with normal or increased adipose tissue in the neck and trunk."
        },
        {
            "id": "MONDO:0009557",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009557",
            "name": "mandibuloacral dysplasia",
            "description": ""
        },
        {
            "id": "MONDO:0009557",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009557",
            "name": "mandibuloacral dysplasia with type A lipodystrophy",
            "description": ""
        },
        {
            "id": "MONDO:0009557",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009557",
            "name": "MADA",
            "description": ""
        },
        {
            "id": "MIM:248370",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/248370",
            "name": "Mandibuloacral dysplasia with type A lipodystrophy",
            "description": "Mandibuloacral dysplasia with type A lipodystrophy"
        }
    ],
    "children": [
        {
            "id": "DOID:0081128",
            "label": "mandibuloacral dysplasia type A lipodystrophy",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0081129",
            "label": "mandibuloacral dysplasia type B lipodystrophy",
            "link_status": true,
            "children": []
        }
    ],
    "id_list": [
        "DOID:0081127",
        "DOID:0081129",
        "DOID:0081128"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0081127",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0081127",
            "categories": []
        },
        {
            "id": "MONDO:0009557",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009557",
            "categories": []
        },
        {
            "id": "MIM:248370",
            "database": "MIM",
            "url": "https://www.omim.org/entry/248370",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "P02545-1",
            "uniprot_ac": "P02545",
            "uniprot_id": "LMNA_HUMAN",
            "refseq_ac": "NP_001244303",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Prelamin-A/C",
                    "type": "recommended"
                },
                {
                    "name": "70 kDa lamin",
                    "type": "synonym"
                },
                {
                    "name": "Renal carcinoma antigen NY-REN-32",
                    "type": "synonym"
                },
                {
                    "name": "epididymis secretory sperm binding protein",
                    "type": "synonym"
                },
                {
                    "name": "lamin A/C-like 1",
                    "type": "synonym"
                },
                {
                    "name": "lamin C",
                    "type": "synonym"
                },
                {
                    "name": "lamin isoform D",
                    "type": "synonym"
                },
                {
                    "name": "mandibuloacral dysplasia type A",
                    "type": "synonym"
                },
                {
                    "name": "prelamin-A/C",
                    "type": "synonym"
                },
                {
                    "name": "progerin",
                    "type": "synonym"
                },
                {
                    "name": "renal carcinoma antigen NY-REN-32",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "LMNA",
                    "type": "recommended"
                },
                {
                    "name": "CDCD1",
                    "type": "synonym"
                },
                {
                    "name": "CDDC",
                    "type": "synonym"
                },
                {
                    "name": "CMD1A",
                    "type": "synonym"
                },
                {
                    "name": "CMT2B1",
                    "type": "synonym"
                },
                {
                    "name": "EMD2",
                    "type": "synonym"
                },
                {
                    "name": "FPLD2",
                    "type": "synonym"
                },
                {
                    "name": "FPLD",
                    "type": "synonym"
                },
                {
                    "name": "FPL",
                    "type": "synonym"
                },
                {
                    "name": "HGPS",
                    "type": "synonym"
                },
                {
                    "name": "IDC",
                    "type": "synonym"
                },
                {
                    "name": "LDP1",
                    "type": "synonym"
                },
                {
                    "name": "LFP",
                    "type": "synonym"
                },
                {
                    "name": "LGMD1B",
                    "type": "synonym"
                },
                {
                    "name": "LMN1",
                    "type": "synonym"
                },
                {
                    "name": "LMNA",
                    "type": "synonym"
                },
                {
                    "name": "LMNC",
                    "type": "synonym"
                },
                {
                    "name": "LMNL1",
                    "type": "synonym"
                },
                {
                    "name": "MADA",
                    "type": "synonym"
                },
                {
                    "name": "PRO1",
                    "type": "synonym"
                }
            ],
            "record_id": "P02545-1",
            "evidence": [
                {
                    "id": "248370",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/248370"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0081127"
}