Terminology Service < Semantic Lookup Platform

All terms in EFO

Label	Id	Description
CDKL5 disorder	MONDO_0100039	[A monogenic disease that has material basis in mutation in the CDKL5 gene.]
pervasive developmental disorder	MONDO_0000594	[A category of developmental disorders characterized by impaired communication and socialization skills. The impairments are incongruent with the individual's developmental level or mental age. These disorders can be associated with general medical or genetic conditions.]
Chondrocalcinosis	HP_0000934	[Radiographic evidence of articular calcification that represent calcium pyrophosphate depositions in soft tissue surrounding joints and at the insertions of tendons near joints (Entheses/Sharpey fibers) .]
Sickle cell - hemoglobin C disease	Orphanet_251365
FOXG1 disorder	MONDO_0100040	[A monogenic disease that has material basis in mutation in the FOXG1 gene.]
Jaundice	HP_0000952	[Yellow pigmentation of the skin due to bilirubin, which in turn is the result of increased bilirubin concentration in the bloodstream.]
Abnormality of skin morphology	HP_0011121	[Any morphological abnormality of the skin.]
oxazepam	CHEBI_7823	[Human PLAC8 wild-type allele is located in the vicinity of 4q21.22 and is approximately 24 kb in length. This allele, which encodes placenta-specific gene 8 protein, may play a role in the modulation of dendritic cell activity. Aberrant expression of the gene may be involved in leukemia relapse., A 1,4-benzodiazepinone that has formula C15H11ClN2O2., A peptide vaccine derived from the von Hippel-Lindau (VHL) tumor suppressor protein, a general transcription factor. In (H115D)VHL35 peptide, histidine is substituted for an aspartic acid in position 115. It might be used to elicit or boost cellular immunity to cancers that expressing the von Hippel-Lindau mutation. (NCI04)]
Coffea	NCBITaxon_13442
Bacillus cereus ATCC 14579	NCBITaxon_226900
Coffea arabica	NCBITaxon_13443
Cafe-au-lait spot	HP_0000957	[Cafe-au-lait spots are hyperpigmented lesions that can vary in color from light brown to dark brown with smooth borders and having a size of 1.5 cm or more in adults and 0.5 cm or more in children.]
Dry skin	HP_0000958	[Skin characterized by the lack of natural or normal moisture.]
early-onset generalized dystonia	MONDO_0100016
Single transverse palmar crease	HP_0000954	[The distal and proximal transverse palmar creases are merged into a single transverse palmar crease.]
pityriasis rubra pilaris	MONDO_0100017	[A group of skin conditions that cause constant inflammation and scaling of the skin. People with PRP have reddish, scaly patches that may occur everywhere on the body, or only on certain areas. Some people with PRP also develop thickened skin on the underside of the hands and feet (palmoplantar keratoderma), various nail abnormalities, and/or thinning of the hair. There are several types of PRP classified by age when symptoms begin, body areas involved, and whether other conditions are present. This condition occurs in adults (adult onset PRP) as well as children (juvenile onset PRP).]
erythrokeratoderma	MONDO_0019270
Sacral dimple	HP_0000960	[A cutaneous indentation resulting from tethering of the skin to underlying structures (bone) of the intergluteal cleft.]
obsolete_ataxia-telangiectasia-like disorder	Orphanet_251347
Eczema	HP_0000964	[Eczema is a form of dermatitis. The term eczema is broadly applied to a range of persistent skin conditions and can be related to a number of underlying conditions. Manifestations of eczema can include dryness and recurring skin rashes with redness, skin edema, itching and dryness, crusting, flaking, blistering, cracking, oozing, or bleeding.]