Lista chorób rzadkich*

294026 - Syndactyly-nystagmus syndrome due to 2q31.1 microduplication

294049 - Reunion Island Larsen-like syndrome

294057 - Rare nevus

294060 - Multiple pterygium syndrome

294415 - Renal-hepatic-pancreatic dysplasia

294422 - Chronic intestinal failure

294925 - Amelia

294927 - Intercalary limb defects

294929 - OBSOLETE: Terminal limb defects

294931 - OBSOLETE: Adactyly of hand

294935 - OBSOLETE: Split hand or/and split foot malformation

294937 - OBSOLETE: Brachydactyly

294939 - OBSOLETE: Preaxial polydactyly of fingers

294942 - OBSOLETE: Postaxial polydactyly of fingers

294944 - Congenital deformities of limbs

294947 - Congenital deformities of fingers

294949 - Joint formation defects

294951 - Congenital joint dislocations

294953 - Non syndromic limb overgrowth

294955 - Syndrome with limb reduction defects

294957 - Dysostosis with combined reduction defects of upper and lower limbs

294959 - Syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy

294961 - OBSOLETE: Syndromes with synostoses of limbs

294963 - Popliteal pterygium syndrome

294965 - Lethal congenital contracture syndrome

294967 - Amelia of upper limb

294969 - Amelia of lower limb

294971 - Tetra-amelia

294973 - Humeral agenesis/hypoplasia

294975 - Congenital absence of upper arm and forearm with hand present

294977 - Congenital absence of thigh and lower leg with foot present

294979 - Congenital absence of both forearm and hand

294981 - Congenital absence of both lower leg and foot

294983 - Acheiria

294986 - Apodia

294988 - Congenital hypoplasia of thumb

294990 - OBSOLETE: Congenital absence/hypoplasia of fingers excluding thumb

294992 - OBSOLETE: Split hand

294994 - OBSOLETE: Split foot

294996 - OBSOLETE: Brachydactyly of fingers

294998 - OBSOLETE: Brachydactyly of toes

295000 - Constriction rings syndrome

295002 - Hyperphalangy

295004 - Central polydactyly

295006 - OBSOLETE: Preaxial polydactyly of toes

295008 - OBSOLETE: Postaxial polydactyly of toes

295010 - OBSOLETE: Central polydactyly of toes

295012 - Syndactyly type 6

295014 - Familial isolated clinodactyly of fingers

295016 - Camptodactyly of fingers

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