Terminology Service < Semantic Lookup Platform

All terms in EFO

Label	Id	Description
Hyperextensible skin	HP_0000974	[A condition in which the skin can be stretched beyond normal, and then returns to its initial position.]
Abnormally lax or hyperextensible skin	HP_0008067
familial chilblain lupus	MONDO_0018827	[An instance of Chilblain lupus that is caused by an inherited modification of the individual's genome.]
chilblain lupus	MONDO_0019557	[A rare, chronic cutaneous lupus erythematosus disease characterized by red or violaceous, initially pruritic (evolving to painful) papules and plaques located on acral areas (especially dorsal aspects of fingers and toes, while the nose and ear involvement is uncommon), exacerbated by cold and damp conditions, with fissuring and ulceration occasionally observed. Coexistence of discoid lupus erythematosus lesions elsewhere on the body and occasional progression to systemic lupus erythematosus may be associated. Histological examination and direct immunofluorescence studies reveal nonspecific inflammatory lupus erythematosus changes while results of cryoglobulin and cold agglutinin studies are negative.]
nucleobase-containing small molecule metabolic process	GO_0055086	[ The cellular chemical reactions and pathways involving a nucleobase-containing small molecule: a nucleobase, a nucleoside, or a nucleotide. ]
organonitrogen compound metabolic process	GO_1901564	[ The chemical reactions and pathways involving organonitrogen compound. ]
glycosyl compound metabolic process	GO_1901657	[ The chemical reactions and pathways involving glycosyl compound. ]
nucleoside phosphate metabolic process	GO_0006753	[ The chemical reactions and pathways involving any phosphorylated nucleoside. ]
obsolete_disorder of O-mannosylglycan synthesis	Orphanet_309469
recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome	MONDO_0018820	[Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome is a rare, genetic, neurodegenerative disease characterized by episodic metabolic encephalomyopathic crises (of variable frequency and severity which are frequently precipitated by an acute illness) which manifest with profound muscle weakness, ataxia, seizures, cardiac arrhythmias, rhabdomyolysis with myoglobinuria, elevated plasma creatine kinase, hypoglycemia, lactic acidosis, increased acylcarnitines and a disorientated or comatose state. Global developmental delay, intellectual disability and cortical, pyramidal and cerebellar signs develop with subsequent progressive neurodegeneration causing loss of expressive language and varying degrees of cerebral atrophy.]
Purpura	HP_0000979	[Purpura (from Latin: purpura, meaning "purple") is the appearance of red or purple discolorations on the skin that do not blanch on applying pressure. They are caused by bleeding underneath the skin. This term refers to an abnormally increased susceptibility to developing purpura. Purpura are larger than petechiae.]
Subcutaneous hemorrhage	HP_0001933	[This term refers to an abnormally increased susceptibility to bruising (purpura, petechiae, or ecchymoses).]
Bacillus subtilis subsp. subtilis str. 168	NCBITaxon_224308
Hyperhidrosis	HP_0000975	[Abnormal excessive perspiration (sweating) despite the lack of appropriate stimuli like hot and humid weather.]
Bruising susceptibility	HP_0000978	[An ecchymosis (bruise) refers to the skin discoloration caused by the escape of blood into the tissues from ruptured blood vessels. This term refers to an abnormally increased susceptibility to bruising. The corresponding phenotypic abnormality is generally elicited on medical history as a report of frequent ecchymoses or bruising without adequate trauma.]
postinfectious vasculitis	MONDO_0018837	[Vasculitis, characterized by inflammatory lesions in the wall of vessels, may be due to different viruses.]
secondary vasculitis	MONDO_0018640
acquired schizencephaly	MONDO_0018839	[An instance of schizencephaly that is acquired during the lifetime of the individual.]
schizencephaly	MONDO_0010011	[Schizencephaly is a rare congenital cerebral malformation characterized by the presence of linear clefts in one or both hemispheres of the brain, extending from the lateral ventricles to the pial surface of the cortex, and that lead to a variety of neurological symptoms such as epilepsy, motor deficits, and psychomotor retardation.]
1-fluoro-2,4-dinitrobenzene	CHEBI_53049	[A fluorobenzene compound with two nitro substituents in the 2- and 4-positions.]