WormMine: DiseaseOntology DOID:0111815 low molecular weight proteinuria with hypercalciuric nephrocalcinosis Disease Ontology

Name
Disease Ontology

Identifier	Name	Description
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:18	urinary system disease	A disease of anatomical entity that is located_in kidney, ureter, bladder and urethra.
DOID:557	kidney disease	A urinary system disease that is located_in the kidney.
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:0050735	X-linked monogenic disease	A monogenic disease that has_material_basis_in mutations in genes on the X chromosome.
DOID:447	renal tubular transport disease
DOID:0080012	X-linked recessive disease	A X-linked monogenic disease that has_material_basis_in recessive inheritance.
DOID:0050699	Dent disease	A renal tubular transport disease that is characterized by tubular proteinuria, hypercalciuria, calcium nephrolithiasis, nephrocalcinosis and chronic kidney failure.
DOID:0111815	low molecular weight proteinuria with hypercalciuric nephrocalcinosis	A Dent disease characterized by elevated levels of low molecular weight proteins in the urine, hypercalciuria, and nephrocalcinosis that has_material_basis_in hemizygous or homozygous mutation in the CLCN5 gene on chromosome Xp11.22.

WormMine