All terms in DOID

Label Id Description
polypeptide_localization_variant SO_0001558
susceptibility to coronary heart disease 1 MIM_607339
C1 inhibitor deficiency DOID_0060002 [A complement deficiency that is a functional deficiency in the complement component C1 inhibitor leading to hereditary angioedema (HAE) involving swelling due to leakage of fluid from blood vessels into connective tissue.]
brachydactyly-syndactyly syndrome DOID_0050689 [A syndrome that is characterized by brachydactyly and syndactyly, has_material_basis_in heterozygous mutation in the HOXD13 gene on chromosome 2q31.]
hemoglobinuria DOID_582
obsolete juxtapapillary focal choroiditis and chorioretinitis DOID_1978
obsolete gouty nephropathy DOID_581
obsolete lipoma of the mediastinum DOID_1977
uric acid nephrolithiasis DOID_580 [A nephrolithiasis that is characterized by stones composed predominantly uric acid.]
intermittent squint DOID_1942
obsolete intermittent alternating exotropia DOID_1941
Aland Island eye disease DOID_0050630 [An eye disease characterized by fundus hypopigmentation, decreased visual acuity, nystagmus, astigmatism, myopia and defective darkness adaptation and has_material_basis_in mutation in the CACNA1F gene.]
Allan-Herndon-Dudley syndrome DOID_0050631 [A syndrome that has_material_basis_in mutation in the MCT8 gene on chromosome Xq13.]
alopecia universalis DOID_0050634 [An alopecia characterized by the complete loss of hair on the scalp and body.]
hereditary systemic amyloidosis 2 DOID_0050636 [An amyloidosis that is characterized by the abnormal deposition of amyloid proteins that is located_in the visceral organs, primarily the kidneys.]
alternating hemiplegia of childhood DOID_0050635 [A hemiplegia characterized by recurrent episodes of temporary weakness or complete paralysis on one or both sides of the body.]
hereditary systemic amyloidosis 1 DOID_0050638 [An amyloidosis that is characterized by a loss of sensation in the extremities, cardiomyopathy, nephropathy, vitreous opacities, and CNS amyloidosis resulting from abnormal deposits of amyloid protein in the body's organs and tissues and has_material_basis_in autosomal dominant inheritance of mutations in the TTR gene.]
Finnish type amyloidosis DOID_0050637 [An amyloidosis that is characterized by abnormal deposits of amyloid protein that mainly affect the eyes, nerves and skin and has_material_basis_in mutations in the gelsolin gene (GSN), and has_symptom corneal lattice dystrophy, has_symptom bilateral facial paralysis, has_symptom cutis laxa.]
telogen effluvium DOID_1943
Aicardi-Goutieres syndrome DOID_0050629 [A syndrome that is a genetically heterogeneous encephalopathy characterized in its most severe form by cerebral atrophy, leukodystrophy, intracranial calcifications, chronic cerebrospinal fluid lymphocytosis, increased CSF alpha-interferon, and negative serologic investigations for common prenatal infections.]