genetic diseases
Inherited human diseases, genetic disorders
On 2 February 2000, OMIM reached 1000 gene entries containing at least one allelic variant (AV) identified as the cause of, or associated with, a recognizable human phenotype.
See List
Types
chromosomal diseases
genic diseases
- monogenic diseases (mendelian diseases)
- oligogenic diseases
- polygenic diseases (complex inheritance diseases)
Mechanisms
chromosomal rearrangements (chromosomal diseases)
genic mutations (genic diseases)
Exemples
Osteochondrodysplasias
genetic metabolic diseases (inherited metabolic diseases)
OMIM (Online Mendelian Inheritance in Man) at NCBI genetests.org at University of Washington, Seattle, Washington Orphanet
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