Search results
Results from the WOW.Com Content Network
The following is a list of genetic disorders and if known, type of mutation and for the chromosome involved. Although the parlance "disease-causing gene" is common, it is the occurrence of an abnormality in the parents that causes the impairment to develop within the child. There are over 6,000 known genetic disorders in humans.
Rare variant (genetics) RAS-associated autoimmune leukoproliferative disorder; Reparagen; Retinal cone dystrophy 3B; Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations; Rhizomelic dysplasia, scoliosis, and retinitis pigmentosa; Ring chromosome 18; RNA-dominant disease
A. Aarskog–Scott syndrome; Ablepharon macrostomia syndrome; Absence deformity of leg-cataract syndrome; Ackerman syndrome; Acro-oto-radial syndrome; Acrocallosal syndrome
Familial Alzheimer-like prion disease; Febrile infection-related epilepsy syndrome; Felty's syndrome; Fetal hydantoin syndrome; Fetal trimethadione syndrome; FG syndrome; Fitz-Hugh–Curtis syndrome; Fitzsimmons–Guilbert syndrome; Fleischer's syndrome; Floating–Harbor syndrome; Fountain syndrome; Franceschetti–Klein syndrome; Frank–Ter ...
List of ICD-9 codes 740–759: congenital anomalies ... Rare disease This page was last edited on 28 September 2024, at 13:01 (UTC). Text is available under the ...
Trisomy 21 – Down syndrome, an example of a polysomy at chromosome 21. Polysomy is a condition found in many species, including fungi, plants, insects, and mammals, in which an organism has at least one more chromosome than normal, i.e., there may be three or more copies of the chromosome rather than the expected two copies. [1]
Legg–Calvé–Perthes disease; Legius syndrome; Leiner's disease; Lelis syndrome; Lemierre's syndrome; Lennox–Gastaut syndrome; Lenz microphthalmia syndrome; Lenz–Majewski syndrome; Leriche's syndrome; Leschke syndrome; Lesch–Nyhan syndrome; Lethal congenital contracture syndrome; Lethal white syndrome
Known human disorders include Charcot–Marie–Tooth disease type 1A, which may be caused by duplication of the gene encoding peripheral myelin protein 22 (PMP22) on chromosome 17. Inversions : A portion of the chromosome has broken off, turned upside down, and reattached, therefore the genetic material is inverted.