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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.
A single-gene disorder (or monogenic disorder) is the result of a single mutated gene. Single-gene disorders can be passed on to subsequent generations in several ways. Genomic imprinting and uniparental disomy, however, may affect inheritance patterns.
Heart disorders (Congenital heart defects) Hemifacial microsomia; Holoprosencephaly; Huntington's disease; Hirschsprung's disease, or congenital aganglionic megacolon; Hypertrichosis; Hypoglossia; Hypomelanism or hypomelanosis (albinism) Hypospadias; Haemophilia; Heterochromia; Hemochromatosis
GATAD2B-associated neurodevelopmental disorder; Genetics of GnRH deficiency conditions; Global Genes; Glutaminase deficiency; Glycogen storage disease type IX; Gollop-Wolfgang complex; GOSR2-related progressive myoclonus ataxia
A medical condition is a broad term that includes all diseases and disorders.. A disease is an abnormal condition affecting the body of an organism.. A disorder is a functional abnormality or disturbance.
A list of types of disorders ... List of diseases This page was last edited on 18 September 2024, at 19:08 (UTC). Text is available under the Creative ...
Monogenic may refer to: Monogenic signal, in the theory of analytic signals; Monogenic disorder, disease, inheritance, or trait, a single gene disorder resulting from a single mutated gene. Monogenic diabetes, or maturity-onset diabetes of the young (MODY), forms of diabetes caused by mutations in an autosomal dominant gene; Monogenic obesity
Degenerative disc disease; Dejerine–Roussy syndrome; Delayed sleep phase disorder; Delusional misidentification syndrome; Delusional parasitosis; Dennie–Marfan syndrome; Dentomandibular sensorimotor dysfunction; Denys–Drash syndrome; DeSanctis–Cacchione syndrome; Descending perineum syndrome; Diabetic stiff hand syndrome; Dialysis ...