{
    "disease_id": "DOID:0080110",
    "recommended_name": {
        "id": "DOID:0080110",
        "resource": "Disease Ontology",
        "url": "http://disease-ontology.org/term/DOID:0080110",
        "name": "multiple pterygium syndrome",
        "description": "A syndrome that is characterized by permanently bent fingers, short stature, rocker-bottom or club feet, joints that are bent in a fixed position, union or webbing of the skin between the fingers, and/or webbing of the neck, inside bend of the elbows, back of the knees and armpits."
    },
    "synonyms": [
        {
            "id": "MONDO:0009926",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009926",
            "name": "autosomal recessive multiple pterygium syndrome",
            "description": "A rare congenital disorder, this is the non-lethal variant of multiple pterygium syndrome, characterized by orthopedic and craniofacial abnormalities, pterygium and akinethesia. The majority of cases are autosomal dominant."
        },
        {
            "id": "MONDO:0009926",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009926",
            "name": "autosomal recessive non-lethal multiple pterygium syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0009926",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009926",
            "name": "multiple pterygium syndrome, autosomal recessive",
            "description": ""
        },
        {
            "id": "MONDO:0009926",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009926",
            "name": "multiple pterygium syndrome nonlethal type",
            "description": ""
        },
        {
            "id": "MONDO:0009926",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009926",
            "name": "multiple pterygium syndrome, ESCOBAR variant; EVMPS",
            "description": ""
        },
        {
            "id": "MONDO:0009926",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009926",
            "name": "autosomal recessive multiple pterygium syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0009926",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009926",
            "name": "Escobar variant multiple pterygium syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0009926",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009926",
            "name": "multiple pterygium syndrome Escobar type",
            "description": ""
        },
        {
            "id": "MONDO:0009926",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009926",
            "name": "EVMPS",
            "description": ""
        },
        {
            "id": "MONDO:0009926",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009926",
            "name": "pterygium Universale",
            "description": ""
        },
        {
            "id": "MONDO:0009926",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009926",
            "name": "multiple pterygium syndrome, Nonlethal type",
            "description": ""
        },
        {
            "id": "MONDO:0009926",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009926",
            "name": "pterygium colli syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0009926",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009926",
            "name": "multiple pterygium syndrome, ESCOBAR variant",
            "description": ""
        },
        {
            "id": "MONDO:0009926",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009926",
            "name": "multiple pterygium syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0009926",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009926",
            "name": "pterygium syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0009926",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009926",
            "name": "Escobar syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0009926",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009926",
            "name": "pterygium universale",
            "description": ""
        },
        {
            "id": "MONDO:0010716",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010716",
            "name": "X-linked lethal multiple pterygium syndrome",
            "description": "X-linked form of lethal multiple pterygium syndrome."
        },
        {
            "id": "MONDO:0010716",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010716",
            "name": "pterygium syndrome, multiple, X-linked",
            "description": ""
        },
        {
            "id": "MONDO:0010716",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010716",
            "name": "lethal multiple pterygium syndrome, X-linked",
            "description": ""
        },
        {
            "id": "MONDO:0010716",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010716",
            "name": "multiple pterygium syndrome, X-linked",
            "description": ""
        },
        {
            "id": "MONDO:0010716",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010716",
            "name": "multiple pterygium syndrome X-linked",
            "description": ""
        },
        {
            "id": "MONDO:0010716",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010716",
            "name": "pterygium syndrome multiple X-linked",
            "description": ""
        },
        {
            "id": "MONDO:0009668",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009668",
            "name": "lethal multiple pterygium syndrome",
            "description": "Multiple pterygium syndrome lethal type is a very rare genetic condition affecting the skin, muscles and skeleton. It is characterized by minor facial abnormalities, prenatal growth deficiency, spine defects, joint contractures , and webbing (pterygia)of the neck, elbows, back of the knees, armpits, and fingers. Fetuses with this condition are usually not born. Some of the prenatal complications include cystic hygroma , hydrops , diaphragmatic hernia , polyhydramnios , underdevelopment of the heart and lungs, microcephaly , bone fusions, joint dislocations, spinal fusion, andbone fractures. Both X-linked and autosomal recessive inheritance have been proposed. Mutations in the CHRNG , CHRNA1 , and CHRND genes have been found to cause this condition."
        },
        {
            "id": "MONDO:0009668",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009668",
            "name": "autosomal recessive lethal multiple pterygium syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0009668",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009668",
            "name": "lethal multiple pterygium syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0009668",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009668",
            "name": "pterygium syndrome multiple lethal type",
            "description": ""
        },
        {
            "id": "MONDO:0009668",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009668",
            "name": "pterygium syndrome, multiple, lethal type",
            "description": ""
        },
        {
            "id": "MONDO:0009668",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009668",
            "name": "multiple pterygium syndrome lethal type",
            "description": ""
        },
        {
            "id": "MONDO:0009668",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009668",
            "name": "LMPS",
            "description": ""
        },
        {
            "id": "MONDO:0009668",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009668",
            "name": "multiple pterygium syndrome, lethal type",
            "description": ""
        },
        {
            "id": "MONDO:0009668",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009668",
            "name": "multiple pterygium syndrome, lethal type; LMPS",
            "description": ""
        },
        {
            "id": "MONDO:0008338",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008338",
            "name": "autosomal dominant multiple pterygium syndrome",
            "description": "Autosomal dominant form of multiple pterygium syndrome."
        },
        {
            "id": "MONDO:0008338",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008338",
            "name": "pterygium syndrome, multiple, autosomal dominant",
            "description": ""
        },
        {
            "id": "MONDO:0008338",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008338",
            "name": "arthrogryposis, distal, type 8; DA8",
            "description": ""
        },
        {
            "id": "MONDO:0008338",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008338",
            "name": "distal arthrogryposis type 8",
            "description": ""
        },
        {
            "id": "MONDO:0008338",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008338",
            "name": "arthrogryposis, distal, type 8",
            "description": ""
        },
        {
            "id": "MONDO:0008338",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008338",
            "name": "DA8",
            "description": ""
        },
        {
            "id": "MONDO:0008338",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008338",
            "name": "multiple pterygium syndrome, autosomal dominant",
            "description": ""
        },
        {
            "id": "MIM:265000",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/265000",
            "name": "Multiple pterygium syndrome, Escobar variant",
            "description": "Multiple pterygium syndrome, Escobar variant"
        },
        {
            "id": "MIM:253290",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/253290",
            "name": "Multiple pterygium syndrome, lethal type",
            "description": "Multiple pterygium syndrome, lethal type"
        },
        {
            "id": "MIM:178110",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/178110",
            "name": "Contractures, pterygia, and spondylocarpotarsal fusion syndrome 1A",
            "description": "Contractures, pterygia, and spondylocarpotarsal fusion syndrome 1A"
        }
    ]
}