|
DOID:7
|
disease of anatomical entity
|
A disease that manifests in a defined anatomical structure. |
|
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:37
|
skin disease
|
An integumentary system disease that is located_in skin. |
|
DOID:16
|
integumentary system disease
|
A disease of anatomical entity that is located_in the integumentary system comprising the skin and its appendages. |
|
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:3390
|
palmoplantar keratosis
|
A keratosis characterized by abnormal thickening of the palms and the soles. |
|
DOID:161
|
keratosis
|
A skin disease characterized_by growth of keratin on the skin or mucous membranes. |
|
DOID:0060862
|
mal de Meleda
|
A palmoplantar keratosis characterized by autosomal recessive inheritance of symmetric palmoplantar hyperkeratosis that progressively extends to the dorsal surfaces of hands and feet and ichthyotic changes elsewhere that has_material_basis_in homozygous mutation in the SLURP1 gene on chromosome 8q24. |
