Terminology Service < Semantic Lookup Platform

All terms in BAO

Label	Id	Description
coccidioidomycosis	DOID_13450	[A primary systemic mycosis that results_in systemic fungal infection, has_material_basis_in Coccidioides immitis, transmitted_by airborne spores and has_symptom conjunctivitis, has_symptom arthritis, has_symptom chest pain and results_in_formation_of skin nodules.]
spondyloepiphyseal dysplasia congenita	DOID_14789
spondyloepimetaphyseal dysplasia	DOID_0080027	[An osteochondrodysplasia that results_in abnormalities of bone growth located_in vertebral column, located_in epiphysis, located_in metaphysis.]
KBG syndrome	DOID_14780	[A syndrome that is characterized by short stature, moderate to severe degrees of mental retardation, developmental abnormalities of the limbs, bones of the spine (vertebrae), extremities, and/or underdevelopment of the bones of the skeleton.]
chromophobe renal cell carcinoma	DOID_4471	[A renal cell carcinoma that has_material_basis_in chromophobe cell that appear pale when viewed under microscope, but that are larger and display different features than clear cells.]
renal cell carcinoma	DOID_4450	[A renal carcinoma that has_material_basis_in the lining of the proximal convoluted renal tubule of the kidney.]
mucinoses	DOID_3141
cutis laxa	DOID_3144	[A skin disease characterized by skin that is loose, hanging, wrinkled and lacking in elasticity; it can also affect connective tissue in other parts of the body, including the heart, blood vessels, joints, intestines and lungs.]
pseudohypoaldosteronism	DOID_4479
Dubowitz syndrome	DOID_14796	[A syndrome that is a rare genetic disorder characterized by microcephaly, growth retardation and a characteristic facial appearance like small, round, triangular shaped with a pointed, receding chin, a broad, wide-tipped nose, and wide-set eyes with drooping eyelids.]
Wegener's granulomatosis	DOID_12132	[An autoimmune disease that is located_in lung, located_in kidney, located_in skin resulting from an autoimmune attack by antineutrophil cytoplasmic antibodies against small and medium-size blood vessels.]
hypersensitivity reaction type II disease	DOID_417	[An immune system disease that is an overactive immune response of the body against substances and tissues normally present in the body resulting from an abnormal functioning of the immune system that results in the production of antibodies or T cell directed against the host tissues.]
urethral intrinsic sphincter deficiency	DOID_13461
urethral disease	DOID_732	[A urinary system disease that is located_in the urethra.]
dysthymic disorder	DOID_12139	[A mood disorder that involves the presence of a low mood almost daily over a span of at least two years.]
Leber congenital amaurosis	DOID_14791	[A retinal disease that is characterized by nystagmus, sluggish or no pupillary responses, and severe vision loss or blindness.]
retinal disease	DOID_5679	[An eye disease that is located_in the retina.]
hypohidrotic ectodermal dysplasia	DOID_14793	[A monogenic disease that is characterized by malformation of ectodermal (skin, hair, teeth and sweat glands) structures including hypotrichosis (sparseness of scalp and body hair), hypohidrosis (reduced ability to sweat), and hypodontia (congenital absence of teeth).]
Clouston syndrome	DOID_14693
factor VIII deficiency	DOID_12134	[An X-linked disease that has_material_basis_in Factor VIII deficiency, which results in the formation of fibrin deficient clots which makes coagulation much more prolonged. The disease is inherited as an X-linked recessive trait.]