All terms in DOID

Label Id Description
myeloproliferative neoplasm DOID_2226 [A myeloid neoplasm that is characterized by a group of slow growing blood cancers in which large numbers of abnormal red blood cells, white blood cells, or platelets grow and spread in the bone marrow and the peripheral blood.]
prune belly syndrome DOID_0060889 [A syndrome that is characterized by megacystis with disorganized detrusor muscle, cryptorchidism, and thin abdominal musculature with overlying lax skin and that has_material_basis_in homozygous mutation in the CHRM3 gene on chromosome 1q43.]
renal hypomagnesemia 3 DOID_0060880 [A hypomagnesemia characterized by autosomal recessive inheritance of excessive urinary Ca(2+) and Mg(2+) excretion that has_material_basis_in homozygous or compound heterozygous mutation in the CLDN16 gene on chromosome 3q28.]
renal hypomagnesemia 5 with ocular involvement DOID_0060881 [A hypomagnesemia characterized by autosomal recessive inheritance of renal magnesium wasting with hypercalcinosis, progressive renal failure and severe ocular involvement that has_material_basis_in homozygous mutation in the CLDN19 gene on chromosome 1p34.2.]
renal hypomagnesemia 4 DOID_0060882 [A hypomagnesemia characterized by isolated hypomagnesemia due to renal loss with normal serum calcium levels and urinary calcium excretion that has_material_basis_in homozygous mutation in the EGF gene on chromosome 4q25.]
enlargement of lymph nodes SYMP_0000521
feeding difficulties and mismanagement SYMP_0000522
visible peristalsis SYMP_0000520
conducting tissue of heart UBERON_0010131
cardiac muscle tissue UBERON_0001133
secretory circumventricular organ UBERON_0010134
circumventricular organ UBERON_0005408
neuroendocrine gland UBERON_0010133
endocrine gland UBERON_0002368
miosis SYMP_0000419
contracted pupil SYMP_0000418
Abnormality of the lower urinary tract HP_0010936
myoclonic dystonia 34 DOID_0060957 [A dystonia characterized by childhood-onset dystonia primarily involving the hands and neck, with a fast tremor with superimposed myoclonus that has_material_basis_in heterozygous mutation in the KCNN2 gene on chromosome 5q22.]
dystonia DOID_543 [A movement disease that is characterized by involuntary muscle contractions causing repetitive or twisting movements.]
Bladder diverticulum HP_0000015