Terminology Service < Semantic Lookup Platform

All terms in EFO

Label	Id	Description
Autosomal monosomy	Orphanet_102020
sporadic Creutzfeld Jacob disease	EFO_1000656	[Sporadic Creutzfeldt-Jakob disease (sCJD) is the most common type of CJD, accounting for around 85% of cases. The precise cause of sporadic CJD is unclear, but it's been suggested that a normal brain protein changes abnormally ('misfolds') and turns into a prion. Most cases of sporadic CJD occur in adults aged between 45 and 75. On average, symptoms develop at age 60-65 years.]
Creutzfeldt Jacob Disease	EFO_0004226	[A rare transmittable degenerative disorder of the brain caused by prions. Morphologically it is characterized by spongiform degeneration of the cerebral and cerebellar cortex. Signs and symptoms include sleep disturbances, personality changes, aphasia, ataxia, muscle atrophy and weakness, visual loss, and myoclonus. It usually leads to death within a year from the onset of the disease., A rare transmissible encephalopathy most prevalent between the ages of 50 and 70 years. Affected individuals may present with sleep disturbances, personality changes, ATAXIA; APHASIA, visual loss, weakness, muscle atrophy, MYOCLONUS, progressive dementia, and death within one year of disease onset. A familial form exhibiting autosomal dominant inheritance and a new variant CJD (potentially associated with ENCEPHALOPATHY, BOVINE SPONGIFORM) have been described. Pathological features include prominent cerebellar and cerebral cortical spongiform degeneration and the presence of PRIONS. (From N Engl J Med, 1998 Dec 31;339(27)).]
rectum cancer	EFO_1000657	[A primary or metastatic malignant neoplasm that affects the rectum. Representative examples include carcinoma, lymphoma, and sarcoma.]
rectal neoplasm	MONDO_0002165	[A benign or malignant neoplasm that affects the rectum. Representative examples of benign neoplasms include lipoma and leiomyoma. Representative examples of malignant neoplasms include carcinoma, lymphoma, and sarcoma. Rectal adenomas always exhibit epithelial dysplasia and are considered premalignant neoplasms.]
colorectal cancer	EFO_0005842	[A primary or metastatic malignant neoplasm that affects the colon or rectum. Representative examples include carcinoma, lymphoma, and sarcoma.]
rectum	UBERON_0001052	[The terminal portion of the intestinal tube, terminating with the anus.]
ribose phosphate metabolic process	GO_0019693	[ The chemical reactions and pathways involving ribose phosphate, any phosphorylated ribose sugar. ]
carbohydrate derivative metabolic process	GO_1901135	[ The chemical reactions and pathways involving carbohydrate derivative. ]
phosphate-containing compound metabolic process	GO_0006796	[ The chemical reactions and pathways involving the phosphate group, the anion or salt of any phosphoric acid. ]
acrodermatitis chronica atrophicans	EFO_1000665	[An acrodermatitis characterized by a chronically progressive course, leading to widespread atrophy of the skin. It is a clinical manifestation of Lyme borreliosis.]
acrodermatitis	EFO_1000664	[A dermatitis that selectively affects the hands and feet., An inflammatory skin condition affecting children. It is often associated with Epstein-Barr virus infection, hepatitis B infection or cytomegalovirus infection. It is characterized by the presence of cutaneous rashes and patches on the palms and soles. The trunk is not affected.]
acrokeratosis verruciformis	EFO_1000666	[A rare genetic skin keratinization disorder with an autosomal dominant mode of inheritance. It is characterized by numerous flesh-colored warty papules on the back of the hands, medial aspect of the feet, knees, and elbows., a rare genodermatosis with an autosomal dominant mode of inheritance. Acrokeratosis verruciformis is a disorder of keratinization characterized by multiple flat-topped, skin-colored keratotic lesions resembling plane warts typically observed on the dorsum of the hands and feet.]
genetic skin disease	MONDO_0024255	[An instance of skin disease that is caused by a modification of the individual's genome.]
acrokeratoderma	MONDO_0019271
keratosis	EFO_1000720	[A skin disorder consisting of hypertrophy of the stratum corneum of the skin., A skin disease characterized_by growth of keratin on the skin or mucous membranes.]
acquired keratosis	EFO_1000663	[a hornlike skin condition not inherited at birth, but acquired later in the life, Focal or diffuse thickening of the skin not inherited as a primary genetic disorder. Causes include inflammatory skin disorders, infectious disorders, lymphedema, and medications.]
dermatitis	MONDO_0002406	[An inflammatory process affecting the skin. Signs include red rash, itching, and blister formation. Representative examples are contact dermatitis, atopic dermatitis, and seborrheic dermatitis.]
Achenbach syndrome	EFO_1000661	[a rarely reported clinical disorder with recurring, sudden bruising of the volar part of a finger, appearing spontaneously or after minor trauma and resolving completely within days., A rare disorder which affects the volar surfaces of fingers. Clinical signs include recurrent, spontaneous or post-traumatic bruising of fingers. The clinical course of the resultant hematoma usually follows a pattern of resolution within days.]
acneiform dermatitis	EFO_1000662	[Cutaneous eruptions resembling acne, characterized by the presence of papulonodules, pustules, comedones, or cysts in the face, trunk, and extremities. Causes include infections and the use of certain medications (e.g., antibiotics and steroids).]