All terms in DOID

Label Id Description
renal hypomagnesemia 6 DOID_0060884 [A hypomagnesemia characterized by autosomal dominant inheritance of severely lowered serum magnesium levels without other electrolyte disturbances or abnormalities in urinary magnesium excretion that has_material_basis_in heterozygous mutation in the CNNM2 gene on chromosome 10q24.]
renal hypomagnesemia 2 DOID_0060885 [A hypomagnesemia characterized by autosomal dominant inheritance of hypomagnesemia due to renal magnesium loss that has_material_basis_in heterozygous mutation in the FXYD2 gene on chromosome 11q23.]
osteopathia striata with cranial sclerosis DOID_0060886 [An osteosclerosis characterized by longitudinal striations of the metaphyses of the long bones, sclerosis of the craniofacial bones, macrocephaly, cleft palate and hearing loss in females and fetal or neonatal lethality in males that has_material_basis_in mutation in the AMER1 gene on chromosome Xq11.]
osteosclerosis DOID_4254 [A bone remodeling disease that results_in abnormal elevated bone density or mass.]
ossification of the posterior longitudinal ligament of spine DOID_0060887 [A connective tissue disease characterized by ectopic ossification of the posterior longitudinal spinal ligament resulting in spinal cord compression, myelopathy and hyperreflexia.]
transient myeloproliferative syndrome DOID_0060888 [A myeloproliferative neoplasm characterized by leukocytosis in newborns with Down syndrome.]
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