{ "disease_id": "DOID:0080110", "recommended_name": { "id": "DOID:0080110", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0080110", "name": "contractures, pterygia, and spondylocarpotarsal fusion 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": "DOID:0080110", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0080110", "name": "multiple pterygium syndrome", "description": "" }, { "id": "MONDO:0008338", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008338", "name": "contractures, pterygia, and spondylocarpotarsal fusion syndrome 1A", "description": "" }, { "id": "MONDO:0008338", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008338", "name": "contractures, pterygia, and spondylocarpostarsal fusion syndrome 1A", "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": "multiple pterygium syndrome, autosomal dominant", "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": "arthrogryposis, distal, type 8", "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": "LMPS", "description": "" }, { "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": "multiple pterygium syndrome 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": "pterygium syndrome multiple lethal type", "description": "" }, { "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": "EVMPS", "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": "Escobar variant multiple pterygium syndrome", "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": "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", "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": "multiple pterygium syndrome nonlethal type", "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": "pterygium colli 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": "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": "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": "pterygium syndrome multiple X-linked", "description": "" }, { "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" }, { "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:265000", "resource": "MIM", "url": "https://www.omim.org/entry/265000", "name": "Multiple pterygium syndrome, Escobar variant", "description": "Multiple pterygium syndrome, Escobar variant" } ], "children": [ { "id": "DOID:0081321", "label": "contractures, pterygia, and spondylocarpotarsal fusion syndrome 1A", "link_status": true, "children": [] }, { "id": "DOID:0081322", "label": "contractures, pterygia, and spondylocarpotarsal fusion syndrome 1B", "link_status": true, "children": [] } ], "id_list": [ "DOID:0080110", "DOID:0081321", "DOID:0081322" ], "unlinked_id_list": [], "crossref": [ { "id": "DOID:0080110", "database": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0080110", "categories": [] }, { "id": "MONDO:0008338", "database": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008338", "categories": [] }, { "id": "MONDO:0009668", "database": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009668", "categories": [] }, { "id": "MONDO:0009926", "database": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009926", "categories": [] }, { "id": "MONDO:0010716", "database": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010716", "categories": [] }, { "id": "MIM:178110", "database": "MIM", "url": "https://www.omim.org/entry/178110", "categories": [] }, { "id": "MIM:253290", "database": "MIM", "url": "https://www.omim.org/entry/253290", "categories": [] }, { "id": "MIM:265000", "database": "MIM", "url": "https://www.omim.org/entry/265000", "categories": [] } ], "proteins": [ { "uniprot_canonical_ac": "E7F9V1-1", "uniprot_ac": "E7F9V1", "uniprot_id": "E7F9V1_DANRE", "refseq_ac": "NP_001241879", "glycoprotein": "no", "species": [ { "name": "Danio rerio", "taxid": 7955, "common_name": "Zebrafish", "glygen_name": "Zebrafish", "reference_species": "Danio rerio [7955]" } ], "protein_names": [ { "name": "AChr gamma", "type": "synonym" }, { "name": "Acetylcholine receptor subunit gamma precursor", "type": "synonym" }, { "name": "acetylcholine receptor subunit gamma precursor", "type": "synonym" }, { "name": "cholinergic receptor, nicotinic, gamma like", "type": "synonym" }, { "name": "nicotinic acetylcholine receptor subunit gamma", "type": "synonym" } ], "gene_names": [ { "name": "chrng", "type": "recommended" }, { "name": "chrngl", "type": "synonym" }, { "name": "chrng", "type": 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sapiens", "taxid": 9606, "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "protein_names": [ { "name": "Acetylcholine receptor subunit alpha", "type": "recommended" }, { "name": "acetylcholine receptor subunit alpha isoform b precursor", "type": "synonym" }, { "name": "acetylcholine receptor subunit alpha", "type": "synonym" }, { "name": "acetylcholine receptor, nicotinic, alpha 1 (muscle)", "type": "synonym" }, { "name": "cholinergic receptor, nicotinic alpha 1", "type": "synonym" }, { "name": "cholinergic receptor, nicotinic, alpha 1 (muscle)", "type": "synonym" }, { "name": "cholinergic receptor, nicotinic, alpha polypeptide 1 (muscle)", "type": "synonym" }, { "name": "muscle nicotinic acetylcholine receptor", "type": "synonym" }, { "name": "nicotinic acetylcholine receptor alpha subunit", "type": "synonym" }, { "name": "nicotinic cholinergic receptor alpha 1", "type": "synonym" } ], "gene_names": [ { "name": "CHRNA1", "type": 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"ACHRG", "type": "synonym" }, { "name": "Achrg", "type": "synonym" }, { "name": "Chrng", "type": "synonym" } ], "record_id": "P18916-1", "evidence": [ { "id": "0080110", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080110" } ] }, { "uniprot_canonical_ac": "P04755-1", "uniprot_ac": "P04755", "uniprot_id": "ACH3_DROME", "refseq_ac": "NP_523927", "glycoprotein": "yes", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "protein_names": [ { "name": "Acetylcholine receptor subunit beta-like 1", "type": "recommended" }, { "name": "AChR protein of drosophila", "type": "synonym" }, { "name": "CG11348-PA", "type": "synonym" }, { "name": "Nicotinic acetylcholine receptor beta 1", "type": "synonym" }, { "name": "nAChRbeta1-PA", "type": "synonym" }, { "name": "nicotinic acetylcholine receptor beta 64B", "type": "synonym" }, { "name": "nicotinic 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"name": "nAChRDbeta1", "type": "synonym" }, { "name": "nAChR_beta1", "type": "synonym" }, { "name": "nAChRbeta1", "type": "synonym" }, { "name": "nAChR", "type": "synonym" }, { "name": "nAcR-beta-64B", "type": "synonym" }, { "name": "nAcR64B", "type": "synonym" }, { "name": "nAcRbeta-64B", "type": "synonym" } ], "record_id": "P04755-1", "evidence": [ { "id": "0080110", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080110" } ] } ], "glycans": [], "biomarkers": [], "association_flag": "1000", "record_id": "doid.0080110" }