All terms in DOID

Label Id Description
tuberous sclerosis 1 DOID_0080324 [A tuberous sclerosis that is characterized by hamartomas in multiple organ systems and has_material_basis_in heterozygous mutation in the TSC1 gene on chromosome 9q34.]
tuberous sclerosis DOID_13515 [A hamartoma syndrome that is characterized by the growth of numerous noncancerous tumors in many parts of the body.]
tuberous sclerosis 2 DOID_0080325 [A tuberous sclerosis that is characterized by hamartomas in multiple organ systems and has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the TSC2 gene, which encodes tuberin, on chromosome 16p13.]
pareses SYMP_0000659 [A paralysis that is charachterized by a slight or partial paralysis.]
familial hypertrophic cardiomyopathy DOID_0080326 [A hypertrophic cardiomyopathy that is characterized by thickening of the heart muscle and has_material_basis_in autosomal dominant inheritance of one or more gene mutations.]
hypertrophic cardiomyopathy DOID_11984 [An intrinsic cardiomyopathy that is characterized by abnormal thickening (hypertrophy) of the heart without any obvious cause.]
multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia and hydranencephaly DOID_0080327 [A syndrome that is characterized by severe hydranencephaly with almost complete absence of the cerebral hemispheres, which are replaced by fluid, relative preservation of the posterior fossa structures, and renal dysplasia or agenesis and has_material_basis_in autosomal recessive homozygous mutation in the CEP55 gene on chromosome 10q23.]
obsolete Vasa previa complicating labor and delivery, delivered DOID_10280
ischemic necrosis of jejunum SYMP_0000657
peripheral nervous system benign neoplasm DOID_0080320 [A central nervous system benign neoplasm the is located_in the peripheral nervous system.]
extraocular muscles paralysis SYMP_0000658
polycystic kidney disease DOID_0080322 [A cystic kidney disease that is characterized by the growth of fluid-filled cysts in the kidneys that reduces kidney function and may lead to kidney failure.]
cystic kidney disease DOID_2975
pale mucous membrane SYMP_0000656
pancreatic squamous cell carcinoma DOID_0080323 [A squamous cell carcinoma located in the pancreas.]
obsolete metastasis to prostate DOID_10288
Culler-Jones syndrome DOID_0080328 [A syndrome that is characterized by hypopituitarism (mainly growth hormone deficiency), and/or postaxial polydactyly and has_material_basis_in autosomal dominant heterozygous mutation in the GLI2 gene on chromosome 2q14. Midline facial defects and developmental delay can also be seen. The condition shows incomplete penetrance and high variable expressivity.]
prostate malignant phyllodes tumor DOID_10289 [A prostate cancer that is characterized by the presence of glandular elements and a cellular stroma that exhibits mitotic activity and nuclear atypia and that arises from the prostate gland.]
cold-induced sweating syndrome 1 DOID_0080329 [A cold-induced sweating syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the CRLF1 gene on chromosome 19p13 and is characterized in the neonatal period by orofacial weakness with impaired sucking and swallowing resulting in poor feeding necessitating medical intervention.]
cold-induced sweating syndrome DOID_0060294 [A syndrome that is characterized by profuse sweating induced by cold ambient temperature.]