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Что (кто) такое myotonia congenita syndrome - определение
RARE GROUP OF AUTOSOMAL DOMINANT SKIN DISORDERS THAT ARE CAUSED BY A MUTATION IN ONE OF FIVE DIFFERENT KERATIN GENES
Pachyonychia; Pachyonychia congenita type I; Pachyonychia congenital type I; Jadassohn-Lewandown-Sky syndrome; Pachyonychia congenita type II; Jackson-Lawler pachyonychia congenita; Jackson-Sertoli syndrome; Jackson-Lawler type pachyonychia congenita; Jadassohn–Lewandowsky syndrome; Jackson–Lawler pachyonychia congenita; Jackson–Sertoli syndrome; Jadassohn-Lewandowsky syndrome; Pachyonychia congenita type III; Schafer-Brunauer syndrome; Jackson-Lawler syndrome; Jadasssohn-Lewandowsky syndrome; Jadassohn Lewandowsky syndrome; Pachyonychia congenita Jackson Lawler type; Pachyonychia congenita Jackson–Lawler type; Pachyonychia congenita Jackson-Lawler type; Pachyonychia congenita type 1; Pachyonychia congenita type 2
Pachyonychia congenita
Pachyonychia congenita (often abbreviated as "PC") is a rare group of autosomal dominant skin disorders that are caused by a mutation in one of five different keratin genes. Pachyonychia congenita is often associated with thickened toenails, plantar keratoderma, and plantar pain.
AMCD
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![[[Lee Pearson]], a ten-time [[Paralympic Games]] gold medallist born with arthrogryposis](https://commons.wikimedia.org/wiki/Special:FilePath/Lee Pearson, October 2008.jpg?width=200 "[[Lee Pearson]], a ten-time [[Paralympic Games]] gold medallist born with arthrogryposis")
CONGENITAL JOINT CONTRACTURE IN TWO OR MORE AREAS OF THE BODY
Arthrogryposis multiplex congenita; Arthrogryposis due to muscular dystrophy; Arthrogryposis Multiplex congenita due to muscular dystrophy; Arthrogryposis Multiplex due to muscular dystrophy; Arthrogryposis ectodermal dysplasia other anomalies; Arthrogryposis and ectodermal dysplasia; Arthrogryposis epileptic seizures migrational brain disorder; Arthrogryposis IUGR thoracic dystrophy; Arthrogryposis like disorder; Kuskokwim disease; Arthrogryposis like hand anomaly sensorineural; Arthrogryposis like hand anomaly sensorineural deafness; Arthrogryposis-like hand anomaly and sensorineural deafness; Arthrogryposis like hand anomaly and sensorineural deafness; Arthrogryposis, distal, type 6; Cote Adamopoulos Pantelakis syndrome; Trichooculodermovertebral syndrome; TODV syndrome; Alves syndrome; Van Bervliet syndrome; Arthrogryposis multiplex congenita CNS calcification; Arthrogryposis multiplex congenita distal; AMCD; Arthrogryposis multiplex congenita, distal, x-linked; AMCX1; Gordon Syndrome; Arthrogryposis multiplex congenita neurogenic type; AMCN; Arthrogryposis multiplex congenita pulmonary hypoplasia; Fetal akinesia sequence; Fetal akinesia deformation sequence; Arthrogryposis multiplex congenita-pulmonary hypoplasia; Pena-Shokeir syndrome, type 1; Pena-Shokeir syndrome, type I; Arthrogryposis multiplex congenita whistling face; Illum syndrome; Arthrogryposis multiplex congenita, distal type 1; AMCD1; Arthrogryposis, distal, type 1; Distal arthrogryposis, type 1; DA 1; Arthrogryposis multiplex congenita, distal type 2; Arthrogryposis, distal, type 2B; Arthrogryposis multiplex congenita, distal type 2B; Freeman-Sheldon syndrome variant; Arthrogryposis ophthalmoplegia retinopathy; Oculomelic amyoplasia; Arthrogryposis, distal, type 5; Arthrogryposis, distal, type IIB; Arthrogryposis with oculomotor limitation and electroretinal abnormalities; Arthrogryposis renal dysfunction cholestasis syndrome; Arthrogryposis spinal muscular atrophy; Sheldon Hall syndrome; Index rotation flap; Dorsal carpal wedge osteotomy; Congenital contracture; Cote–Adamopoulos–Pantelakis syndrome; Cote-Adamopoulos-Pantelakis syndrome; Distal arthrogryposis; Arthrogriposis; Sheldon–Hall syndrome; Arthrogryposis multiplex with deafness, inguinal hernias, and early death
Active Matrix Color Display (Reference: AMD, LCD)
AMCD
CONGENITAL JOINT CONTRACTURE IN TWO OR MORE AREAS OF THE BODY
Arthrogryposis multiplex congenita; Arthrogryposis due to muscular dystrophy; Arthrogryposis Multiplex congenita due to muscular dystrophy; Arthrogryposis Multiplex due to muscular dystrophy; Arthrogryposis ectodermal dysplasia other anomalies; Arthrogryposis and ectodermal dysplasia; Arthrogryposis epileptic seizures migrational brain disorder; Arthrogryposis IUGR thoracic dystrophy; Arthrogryposis like disorder; Kuskokwim disease; Arthrogryposis like hand anomaly sensorineural; Arthrogryposis like hand anomaly sensorineural deafness; Arthrogryposis-like hand anomaly and sensorineural deafness; Arthrogryposis like hand anomaly and sensorineural deafness; Arthrogryposis, distal, type 6; Cote Adamopoulos Pantelakis syndrome; Trichooculodermovertebral syndrome; TODV syndrome; Alves syndrome; Van Bervliet syndrome; Arthrogryposis multiplex congenita CNS calcification; Arthrogryposis multiplex congenita distal; AMCD; Arthrogryposis multiplex congenita, distal, x-linked; AMCX1; Gordon Syndrome; Arthrogryposis multiplex congenita neurogenic type; AMCN; Arthrogryposis multiplex congenita pulmonary hypoplasia; Fetal akinesia sequence; Fetal akinesia deformation sequence; Arthrogryposis multiplex congenita-pulmonary hypoplasia; Pena-Shokeir syndrome, type 1; Pena-Shokeir syndrome, type I; Arthrogryposis multiplex congenita whistling face; Illum syndrome; Arthrogryposis multiplex congenita, distal type 1; AMCD1; Arthrogryposis, distal, type 1; Distal arthrogryposis, type 1; DA 1; Arthrogryposis multiplex congenita, distal type 2; Arthrogryposis, distal, type 2B; Arthrogryposis multiplex congenita, distal type 2B; Freeman-Sheldon syndrome variant; Arthrogryposis ophthalmoplegia retinopathy; Oculomelic amyoplasia; Arthrogryposis, distal, type 5; Arthrogryposis, distal, type IIB; Arthrogryposis with oculomotor limitation and electroretinal abnormalities; Arthrogryposis renal dysfunction cholestasis syndrome; Arthrogryposis spinal muscular atrophy; Sheldon Hall syndrome; Index rotation flap; Dorsal carpal wedge osteotomy; Congenital contracture; Cote–Adamopoulos–Pantelakis syndrome; Cote-Adamopoulos-Pantelakis syndrome; Distal arthrogryposis; Arthrogriposis; Sheldon–Hall syndrome; Arthrogryposis multiplex with deafness, inguinal hernias, and early death
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Википедия
Pachyonychia congenita
Pachyonychia congenita (often abbreviated as "PC") is a rare group of autosomal dominant skin disorders that are caused by a mutation in one of five different keratin genes. Pachyonychia congenita is often associated with thickened toenails, plantar keratoderma, and plantar pain.
