Disease Browser
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Parent Node: dysostosis of genetic origin (MONDO:0018454) |
Parent Node: dysostosis with limb anomaly as a major feature (MONDO:0018235) |
..Starting node ..dysostosis of genetic origin with limb anomaly as a major feature ()
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Child Nodes:
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........absence deformity of leg-cataract syndrome () |
........absent radius-anogenital anomalies syndrome () |
........absent tibia-polydactyly syndrome () |
........Adams-Oliver syndrome () |
........ADULT syndrome () |
........Aphalangy-hemivertebrae-urogenital-intestinal dysgenesis syndrome () |
........autosomal recessive amelia () |
........bipartite talus () |
........brachydactyly (disease) () |
........camptodactyly syndrome, Guadalajara type 2 () |
........camptodactyly syndrome, Guadalajara type 3 () |
........camptodactyly with fibrous tissue hyperplasia and skeletal dysplasia () |
........camptodactyly, myopia, and fibrosis of the medial rectus muscle of eye () |
........congenital pseudoarthrosis of the limbs () |
........Cornelia de Lange syndrome () |
........Duane-radial ray syndrome () |
........dysostosis with combined reduction defects of upper and lower limbs () |
........dysostosis with limb and face anomalies as a major feature () |
........EEC syndrome () |
........EEM syndrome () |
........external auditory canal atresia-vertical talus-hypertelorism syndrome () |
........familial clubfoot with or without associated lower limb anomalies () |
........Fanconi anemia () |
........femoral-facial syndrome () |
........fibular hypoplasia and complex brachydactyly () |
........heart-hand syndrome () |
........hereditary thrombocytosis with transverse limb defect () |
........humerus trochlea aplasia () |
........IVIC syndrome () |
........joint formation defects () |
........Karsch-Neugebauer syndrome () |
........lethal faciocardiomelic dysplasia () |
........limb transversal defect-cardiac anomaly syndrome () |
........limb-mammary syndrome () |
........mammary-digital-nail syndrome () |
........non-syndromic limb reduction defect () |
........non-syndromic polydactyly, syndactyly and/or hyperphalangy () |
........omphalocele-diaphragmatic hernia-cardiovascular anomalies-radial ray defect syndrome () |
........otoonychoperoneal syndrome () |
........pelvis-shoulder dysplasia () |
........pelviscapular dysplasia () |
........phocomelia, Schinzel type () |
........phocomelia-ectrodactyly-deafness-sinus arrhythmia syndrome () |
........polydactyly (disease) () |
........postaxial tetramelic oligodactyly () |
........radio-renal syndrome () |
........rapadilino syndrome () |
........Roberts syndrome () |
........shoulder and thorax deformity-congenital heart disease syndrome () |
........splenogonadal fusion-limb defects-micrognathia syndrome () |
........split hand-foot malformation 3 () |
........syndactyly (disease) () |
........syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy () |
........syndrome with synostosis or other joint formation defect () |
........tetraamelia-multiple malformations syndrome () |
........tetramelic monodactyly () |
........thrombocytopenia-absent radius syndrome () |
........ulna hypoplasia-intellectual disability syndrome () |
........ulnar-mammary syndrome () |
........X-linked keloid scarring-reduced joint mobility-increased optic cup-to-disc ratio syndrome () |
Sister Nodes: |
..dysostosis of genetic origin with limb anomaly as a major feature ()
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..split hand or/and split foot malformation ()
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..syndrome with limb reduction defects ()
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MONDO is developed by the Monarch Initiative. Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM,ClinVar, CTD
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