Terminology Service < Semantic Lookup Platform

All terms in DOID

Label	Id	Description
dopamine beta-hydroxylase deficiency	DOID_0090145	[An inherited metabolic disorder characterized by decreased beta-hydroxylation of dopamine in nerves resulting in impaired autonomic noradrenergic neurotransmission and clinical features including severely decreased norepinephrine levels, orthostatic hypotension, ptosis, nasal stuffiness, and delayed eye opening that has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the dopamine beta-hydroxylase gene (DBH) on chromosome 9q34.]
breast hemangiopericytoma	DOID_5370	[A hemangiopericytoma that is manifested in the breast.]
retroperitoneal hemangiopericytoma	DOID_5373
brachyolmia-amelogenesis imperfecta syndrome	DOID_0090143	[A syndrome characterized by skeletal dysplasia (broad ilia, elongated femoral necks with coxa valga, scoliosis), mild platyspondyly, short trunked short stature, and amelogenesis imperfecta that has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the latent transforming growth factor beta binding protein 3 gene (LTBP3) on chromosome 11q13.]
Donnai-Barrow syndrome	DOID_0090144	[A syndrome that is characterized by facial and ocular abnormalities, sensorineural hearing loss, agenesis of the corpus callosum, variable intellectual disability, and proteinuria that has_material_basis_in homozygous or compound heterozygous mutation in the LDL receptor related protein 2 gene (LRP2) on chromosome 2q31.]
hair follicle neoplasm	DOID_5375
skeletal muscle neoplasm	DOID_4044
pilomatrixoma	DOID_5374
skin pilomatrix carcinoma	DOID_5376
musculoskeletal system cancer	DOID_0060100	[An organ system cancer located_in the muscular and skeletal organs and characterized by uncontrolled cellular proliferation of the musculoskeletal organs.]
central nervous system rhabdomyosarcoma	DOID_4048
hemoglobin E disease	DOID_5379
hemoglobinopathy	DOID_2860
liver rhabdomyosarcoma	DOID_4047	[A rhabdomyosarcoma and sarcoma of liver that are located_in the liver.]
liver sarcoma	DOID_270	[A sarcoma and malignant non-epithelial hepatic and intrahepatic bile duct neoplasm sthat is located_in the liver.]
hemoglobin D disease	DOID_5378
mediastinum rhabdomyosarcoma	DOID_4049	[A rhabdomyosarcoma that is located_in the mediastinum and affects children and adolescents.]
Erysipelotrichaceae	NCBITaxon_128827
anterograde amnesia	DOID_5340	[An amnestic disorder that involves the impaired or lost ability to memorize new things.]
prostate transitional cell carcinoma	DOID_4011	[A prostate carcinoma that derives_from transitional epithelial cells.]