Terminology Service < Semantic Lookup Platform

All terms in EFO

Label	Id	Description
obsolete autosomal dominant disease associated with focal palmoplantar keratoderma as a major feature	MONDO_0020095	[OBSOLETE. Autosomal dominant form of disease with focal palmoplantar keratoderma as a major feature.]
ocular cicatricial pemphigoid	EFO_0008610	[Ocular cicatricial pemphigoid (OCP) is a form of mucous membrane pemphigoid (a group of rare, chronic autoimmune disorders) that affects the eyes. In the early stages, people with OCPgenerally experience chronic or relapsing conjunctivitis that is often characterized by tearing, irritation, burning, and/or mucus drainage. If left untreated, OCP can progress to severe conjunctiva scarring and vision loss. Involvement of other mucosal sites and the skin may also occur in OCP. The exact underlying cause is currently unknown. The treatment of OCP aims to slow disease progression and prevent complications. This usually involves long-term use of medications called immunomodulators which help regulate or normalize the immune system., Ocular cicatricial pemphigoid (OCP) is a form of mucous membrane pemphigoid (a group of rare, chronic autoimmune disorders ) that affects the eyes. In the early stages, people with OCPgenerally experience chronic or relapsing conjunctivitis that is often characterized by tearing, irritation, burning, and/or mucus drainage. If left untreated, OCP can progress to severe conjunctiva scarring and vision loss. Involvement of other mucosal sites and the skin may also occur in OCP. The exact underlying cause is currently unknown. The treatment of OCP aims to slow disease progression and prevent complications. This usually involves long-term use of medications called immunomodulators which help regulate or normalize the immune system.[9044][9045] [ https://rarediseases.info.nih.gov/diseases/8759/ocular-cicatricial-pemphigoid ]]
obsolete autosomal dominant disease with diffuse palmoplantar keratoderma as a major feature	MONDO_0020094	[OBSOLETE. Autosomal dominant form of disease with diffuse palmoplantar keratoderma as a major feature.]
localised cicatricial pemphigoid	EFO_0008611	[Localized cicatricial pemphigoid (also known as "Brunsting–Perry cicatricial pemphigoid") refers to a localised variant of cutaneous cicatricial pemphigoid involving the head and the neck without mucosal involvement.]
obsolete hemorrhagic disorder due to a constitutional platelet anomaly	MONDO_0019097	[OBSOLETE. A hemorrhagic disorder due to a platelet anomaly which occurs from birth.]
vegetating cicatricial pemphigoid	EFO_0008612	[Cicatricial pemphigoid that may be not fully manifested.]
GM17265	CLO_0013163	[HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1)]
obsolete_transaldolase deficiency	Orphanet_101028
bronchopulmonary dysplasia	MONDO_0019091	[Bronchopulmonary dysplasia is a chronic respiratory disease that results from complications related to lung injury during the treatment of infant acute respiratory distress syndrome in low-birth-weight premature infants or from abnormal lung development in older infants. Clinical signs are tachypnea, tachycardia and signs of respiratory distress such as intercostal recession, grunting and nasal flaring.]
obsolete_sub-cortical nodular heterotopia	Orphanet_101029
immunodeficiency due to selective anti-polysaccharide antibody deficiency	MONDO_0019093	[Immunodeficiency due to selective anti-polysaccharide antibody deficiency is characterized by normal immunoglobulin levels (including IgG sub-classes) but impaired polysaccharide responsiveness (IPR).]
Medullary Cystic Kidney Disease Type I	EFO_0008617	[An inherited form of cystic kidney disease that leads to fibrosis and impaired renal function as a result of defects in the MUC1 gene, which encodes mucin 1. [ NICHD NCI ]]
Medullary Cystic Kidney Disease Type II	EFO_0008618	[An inherited form of cystic kidney disease leading to fibrosis and impaired renal function that is caused by mutations in the UMOD gene, which encodes uromodulin/Tamm-Horsfall mucoprotein. [ NICHD NCI ]]
obsolete_Mediterranean macrothrombocytopenia	Orphanet_101022
Simple Cyst of Kidney	EFO_0008619	[A homogenous cyst located in the kidney. [ NCI NICHD ]]
pemphigus vegetans	EFO_0008613	[Pemphigus vegetans (P Veg) is a rare clinical form of pemphigus.]
pemphigus vulgaris	EFO_0004719	[Pemphigus vulgaris is a rare chronic blistering skin disease and the most common form of pemphigus., Pemphigus is a group of chronic autoimmune skin diseases characterized by blister formations on the outer layer of the skin and the mucous membranes. Three clinical forms have been characterised, of which pemphigus vulgaris is the most frequent (75%)., An autoimmune blistering disorder. It is characterized by the presence of painful blisters and erosions in the skin and mucous membranes.]
sideroblastic anemia	MONDO_0015194	[Sideroblastic anemias (SA) are a group of rare heterogeneous inherited or acquired bone marrow disorders, isolated or part of a syndrome, characterized by decreased hemoglobin synthesis, because of defective use of iron (although plasmatic iron levels may be normal or elevated) and the presence of ringed sideroblasts in the bone marrow due to the pathologic iron overload in mitochondria as visualized by Perls' staining. The group encompasses (idiopathic) acquired sideroblastic anemia and constitutional sideroblastic anemias. The latter include syndromic sideroblastic anemias such as Pearson syndrome, mitochondrial mypathy and sideroblastic anemias, x-linked sideroblastic anemia-ataxia, thiamine responsive megaloblastic anemia syndrome and nonsyndromic sideroblastic anemias comprising x-linked and autosomal recessive sideroblastic anemias.]
Iodine Deficiency Hypothyroidism	EFO_0008614	[Hypothyroidism due to insufficient intake of iodine. [ NCI ]]
GM17263	CLO_0013169	[HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1)]