|
DOID:4
|
disease
|
A disease is a disposition (i) to undergo pathological processes that (ii) exists in an organism because of one or more disorders in that organism. |
|
DOID:0014667
|
disease of metabolism
|
A disease that involves errors in metabolic processes of building or degradation of molecules. |
|
DOID:0050177
|
monogenic disease
|
A genetic disease that is the result of one or more abnormal alleles and may be dominant, semi-dominant, or recessive. |
|
DOID:630
|
genetic disease
|
A disease that has_material_basis_in genetic variations in the human genome. |
|
DOID:0050739
|
autosomal genetic disease
|
A monogenic disease that has_material_basis_in a mutation in a single gene on one of the non-sex chromosomes. |
|
DOID:0050737
|
autosomal recessive disease
|
An autosomal genetic disease that is characterized by the presence of two mutated copies of the gene, both of which must be present in order for the disease or trait to develop. |
|
DOID:3211
|
lysosomal storage disease
|
An inherited metabolic disorder that involve an abnormal accumulation of substances inside the lysosome resulting from defects in lysosomal function. |
|
DOID:655
|
inherited metabolic disorder
|
A disease of metabolism that is characterized by enzyme deficiency or accumulation of enzymes or toxins which interfere with normal function due to inherited enzyme abnormality. |
|
DOID:12798
|
mucopolysaccharidosis
|
A lysosomal storage disease that involves the accumulation of glycosaminoglycans in the tissues and their excretion in the urine. |
|
DOID:12801
|
mucopolysaccharidosis III
|
A mucopolysaccharidosis characterized by a deficiency of the lysosomal enzyme resulting in incomplete breakdown of the heparan sulfate sugar chain. |
|
DOID:0111393
|
mucopolysaccharidosis type IIIC
|
A mucopolysaccharidosis III that has_material_basis_in homozygous or compound heterozygous mutation in the HGSNAT gene on chromosome 8p11.2-p11.1. |
