Terminology Service < Semantic Lookup Platform

All terms in EFO

Label	Id	Description
hereditary angioedema	MONDO_0019623	[Hereditary angioedema (HAE) is a genetic disease characterized by the occurrence of transitory and recurrent subcutaneous and/or submucosal edemas resulting in swelling and/or abdominal pain.]
hereditary angioedema with C1Inh deficiency	MONDO_0033946	[Forms of hereditary angioedema that occur due to mutations in the gene for complement C1 inhibitor protein. Type I hereditary angioedema is associated with reduced serum levels of complement C1 inhibitor protein. Type II hereditary angioedema is associated with the production of a non-functional complement C1 inhibitor protein.]
serpinopathy	MONDO_0027749
MAN1B1-CDG	MONDO_0018349	[MAN1B1-CDG is a form of congenital disorders of N-linked glycosylation characterized by intellectual disability, delayed motor development, hypotonia and truncal obesity. Additional features include slight facial dysmorphism (hypertelorism, downslanting palpebral fissures, large, low-set ears, hypoplastic nasolabial fold, thin upper lip), hypermobility of the joints and skin laxity. The disease is caused by mutations in the gene MAN1B1 (9q34.3).]
Systemic Mastocytosis with Associated Clonal Hematological non-Mast-Cell Lineage Disease	EFO_1000559	[Systemic mastocytosis with an associated clonal hematological non-mast cell lineage disease is a form of systemic mastocytosis (SM) associated with malignancy (other than mast cell leukemia).]
Synovial Chondromatosis	EFO_1000557	[Synovial chondromatosis is a type of non-cancerous tumor that arises in the lining of a joint. The knee is most commonly affected, however it can affect any joint. The tumors begin as small nodules of cartilage. These nodules can separate and become loose within the joint. Some tumors may be no larger than a grain of rice. Synovial chondromatosis most commonly occurs in adults ages 20 to 50. Signs and symptoms may include pain, swelling, a decreased range of motion, and locking of the joint. The exact underlying cause of the condition is unknown. Treatment may involve surgery to remove the tumor. Recurrence of the condition is common.]
connective and soft tissue neoplasm	MONDO_0044334	[A benign, intermediate, or malignant neoplasm that affects the connective and soft tissue.]
Syringocystadenoma Papilliferum	EFO_1000558	[A benign adnexal neoplasm occurring during childhood or adolescence. It usually presents as a papular lesion or a plaque on the head and neck. It may arise in an organoid nevus such as sebaceous. It is characterized by an endophytic invagination of the epithelium into the dermis. There are dermal cystic spaces present, containing villous projections. Complete excision is curative.]
sweat gland adenoma	MONDO_0021110	[A benign epithelial neoplasm arising from the sweat glands. Representative examples include tubular apocrine adenoma, syringofibroadenoma, and hidradenoma.]
data transformation	OBI_0200000	[A data transformation is a process which produces output data from input data - e.g. the application of a clustering protocol to microarray data or the application of a statistical testing method on a primary data set to determine a p-value., A data transformation is a process which produces output data from input data, A planned process that produces output data from input data.]
periodic paralysis with transient compartment-like syndrome	MONDO_0018344
periodic paralysis	MONDO_0016122
severe intellectual disability-progressive postnatal microcephaly- midline stereotypic hand movements syndrome	MONDO_0018347
ferro-cerebro-cutaneous syndrome	MONDO_0018346
3q27.3 microdeletion syndrome	MONDO_0018341	[3q27.3 microdeletion syndrome is a rare chromosomal anomaly syndrome, resulting from the partial deletion of the long arm of chromosome 3, characterized by mild to severe intellectual disability, neuropsychiatric disorders of the psychotic and dysthymic spectrum, mild distinctive facial dysmorphism (incl. slender face, deep-set eyes, high nasal bridge with a hooked nose, small, low- set ears, short philtrum, small mouth with thin upper lip, prognathism) and a marfanoid habitus.]
partial deletion of the long arm of chromosome 3	MONDO_0016902
hereditary isolated aplastic anemia	MONDO_0018340
inherited aplastic anemia	MONDO_0001713	[An inborn condition characterized by deficiencies of red cell precursors that sometimes also includes leukopenia and thrombocytopenia.]
periodic paralysis with later-onset distal motor neuropathy	MONDO_0018343
neuromuscular disease	EFO_1001902	[Any disease that impairs the functioning of the muscles, either directly, being pathologies of the voluntary muscle, or indirectly, being pathologies of nerves or neuromuscular junctions, A neuropathy that affect the nerves that control the voluntary muscles.]