All terms in DOID

Label Id Description
sclerosing hepatic carcinoma DOID_5026
obsolete Alphavirus infectious disease DOID_5029 [A Togaviridae infectious disease that results_in infection in animals and humans, has_material_basis_in Alphavirus, which is transmitted_by mosquito bite.]
glycogen storage disease Ib DOID_0081330 [A glycogen storage disease I that has_material_basis_in homozygous or compound heterozygous mutation in the G6PT1 gene (SLC37A4), which encodes glucose-6-phosphate translocase, on chromosome 11q23.]
glycogen storage disease I DOID_0081329 [A glycogen storage disease that is characterized by severe hypoglycemia and hepatomegaly caused by the accumulation of glycogen. Affected individuals exhibit growth retardation, delayed puberty, lactic acidemia, hyperlipidemia, hyperuricemia, and in adults a high incidence of hepatic adenomas.]
leptomeninges sarcoma DOID_7689
malignant leptomeningeal neoplasm DOID_6086
obsolete recurrent cancer of Liver DOID_5028
glycogen storage disease Ic DOID_0081331 [A glycogen storage disease I that has_material_basis_in homozygous or compound heterozygous mutation in the G6PT1 gene (SLC37A4), which encodes glucose-6-phosphate translocase, on chromosome 11q23. G6PT1 is also the site of the defect in glycogen storage disease Ib.]
Weight loss HP_0001824
Decreased body weight HP_0004325
congenital myopathy 15 DOID_0081347 [A congenital myopathy that is characterized by symptom onset soon after birth and that has_material_basis_in heterozygous mutation in the TNNC2 gene on chromosome 20q13. Affected infants are hypotonic and have severe respiratory insufficiency and feeding problems, sometimes requiring mechanical ventilation or tube feeding.]
congenital myopathy 16 DOID_0081348 [A congenital myopathy that is characterized by onset of hypotonia and tremor in infancy and that has_material_basis_in heterozygous mutation in the MYBPC1 gene on chromosome 12q23. Patients have mildly delayed walking, unsteady gait, proximal muscle weakness, and a high-frequency tremor of the limbs.]
obsolete olivopontocerebellar atrophy V DOID_0080017
psychologic vaginismus DOID_10131 [A psychosexual disorder that is characterized by involuntary spasm of the outer muscles of the vagina during penetration that results from a psychological cause.]
psychosexual disorder DOID_10132 [A sexual disorder that is characterized as a sexual problem that is psychological, rather than physiological in origin.]
congenital myopathy 17 DOID_0081349 [A congenital myopathy that is characterized by hypotonia and respiratory insufficiency present at birth with associated with high diaphragmatic dome on imaging and that has_material_basis_in homozygous mutation in the MYOD1 gene on chromosome 11p15.]
dysbaric osteonecrosis DOID_0080018 [An ischemic bone disease the has_material_basis_in nitrogen embolization located_in bone.]
congenital myopathy 9A DOID_0081343 [A congenital myopathy that is characterized by neonatal hypotonia, poor feeding, fractures of the long bones, and respiratory insufficiency and that has_material_basis_in homozygous mutation in the FXR1 gene on chromosome 3q28.]
congenital myopathy 9B DOID_0081344 [A congenital myopathy that is neonatal hypotonia followed by mildly delayed walking in childhood, mainly affecting proximal muscles, and that has_material_basis_in homozygous mutation in the FXR1 gene on chromosome 3q28. Biallelic mutation in the FXR1 gene also causes CMYP9A.]
obsolete mitochondrial disease DOID_0080013