All terms in DOID

Label Id Description
susceptibility to essential hypertension 8 MIM_611014
corneal staphyloma DOID_12753
obsolete acquired cavovarus foot deformity DOID_11421
iodine hypothyroidism DOID_5083
hypothyroidism DOID_1459 [A thyroid gland disease which involves an underproduction of thyroid hormone.]
liver cirrhosis DOID_5082
cyclosporiasis DOID_12750 [A coccidiosis that involves infection of the intestine with the parasitic protozoan Cyclospora cayetanensis, which is transmitted by contaminated food and water. The symptoms include watery diarrhea, anorexia, weight loss, abdominal pain, nausea and vomiting, myalgias, low-grade fever, and fatigue.]
obsolete malignant neoplasm of meninges DOID_5073
mixed glioma DOID_5076
myxopapillary ependymoma DOID_5075
subependymal giant cell astrocytoma DOID_5077
endometriosis of pelvic peritoneum DOID_11429 [A female reproductive system disease characterized by the growth of endometrial tissue that is located_in the pelvic peritoneum.]
endometriosis of intestine DOID_11428 [A female reproductive system disease characterized by the growth of endometrial tissue that is located_in the intestine.]
obsolete malignant neoplasm of eyeball, except conjunctiva, cornea, retina and choroid DOID_12758
endosalpingiosis DOID_11427 [A female reproductive system disease characterized by the growth of fallopian tube-like epithelium outside the fallopian tube.]
ataxia-oculomotor apraxia 4 DOID_0081383 [An autosomal recessive cerebellar ataxia that is characterized by onset of dystonia and ataxia in the first decade and that has_material_basis_in homozygous or compound heterozygous mutation in the PNKP gene on chromosome 19q13.]
acromesomelic dysplasia, Grebe type DOID_0080052 [An acromesomelic dysplasia that has_material_basis_in homozygous or compound heterozygous mutation in the CDMP1 gene on chromosome 20q11.]
pseudohypoparathyroidism type 1A DOID_0080053 [A pseudohypoparathyroidism that characterized by shortening and widening of long bones located_in the hand or located_in the foot along with short stature, obesity, rounded face, and lack of responsiveness to parathyroid hormone that has_material_basis_in a mutation resulting in loss of function of the Gs-alpha isoform of the GNAS gene on the maternal allele. This results in expression of the Gs-alpha protein only from the paternal allele.]
pseudohypoparathyroidism DOID_4184 [A metal metabolism disorder that is characterized by end-organ resistance to parathyroid hormone and/or a constellation of symptoms collectively termed Albright’s hereditary osteodystrophy, which include shortening and widening of long bones located_in the hand or located_in the foot along with short stature, obesity, and rounded face.]
ataxia-telangiectasia-like disorder 1 DOID_0081384 [An autosomal recessive cerebellar ataxia that is characterized clinically by progressive cerebellar degeneration resulting in ataxia and oculomotor apraxia and that has_material_basis_in homozygous or compound heterozygous mutation in the MRE11A gene (MRE11) on chromosome 11q21.]