Terminology Service < Semantic Lookup Platform

All terms in DOID

Label	Id	Description
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 and rarely in non-Down's infants.]
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 variation in the chromosome region 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
miosis	SYMP_0000419
contracted pupil	SYMP_0000418
pupil symptom	SYMP_0000417