All terms in DOID

Label Id Description
autosomal recessive spinocerebellar ataxia 14 DOID_0080058 [An autosomal recessive cerebellar ataxia that is characterized by delayed psychomotor development, severe early-onset gait ataxia, eye movement abnormalities, cerebellar atrophy on brain imaging, and intellectual disability and that has_material_basis_in homozygous mutation in the SPTBN2 gene on chromosome 11q13.]
logopenic progressive aphasia DOID_0081389 [A primary progressive aphasia that is characterized by language disturbance, including difficulty making or understanding speech. It is a type of primary progressive aphasia. Affected individuals have slow, hesitant speech due to difficulty retrieving the correct words, names, or numbers.]
autosomal recessive spinocerebellar ataxia 7 DOID_0080059 [An autosomal recessive cerebellar ataxia that is characterized by onset of progressive gait difficulties, eye movement abnormalities, and dysarthria in the first or second decade of life and that has_material_basis_in compound heterozygous mutation in the TPP1 gene on chromosome 11p15.]
Abnormality of thrombocytes HP_0001872
lacrimal duct cancer DOID_12756
lacrimal system cancer DOID_292
susceptibility to autism 10 MIM_611016
fallopian tube endometriosis DOID_11424 [A female reproductive system disease characterized by the growth of endometrial tissue that is located_in the fallopian tube.]
susceptibility to autism 9 MIM_611015
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.]