Terminology Service < Semantic Lookup Platform

All terms in EFO

Label	Id	Description
spondylometaphyseal dysplasia	MONDO_0016763	[Spondylometaphyseal dysplasias are a heterogeneous group of disorders associated with walking and growth disturbances that become evident during the second year of life.]
Breast aplasia	HP_0100783	[Failure to develop and congenital absence of the breast.]
Abnormality of the breast	HP_0000769	[An abnormality of the breast.]
genetic syndromic Pierre Robin syndrome	MONDO_0018187
otorhinolaryngologic disease	MONDO_0024623	[Pathological processes of the ear, the nose, and the throat, also known as the ENT diseases.]
obsolete ring chromosome	MONDO_0018186	[OBSOLETE. Aberrant chromosomes with no ends, i.e., circular.]
juvenile dermatitis herpetiformis	EFO_1000719	[dermatitis herpetiformis in children, Dermatitis herpetiformis in children]
dermatitis herpetiformis	EFO_1000684	[A chronic blistering skin condition, characterised by blisters filled with a watery fluid. Despite its name, DH is neither related to nor caused by herpes virus: the name means that it is a skin inflammation having an appearance similar to herpes., Dermatitis herpetiformis (DH) is a chronic autoimmune subepidermal bullous disease characterized by grouped pruritic lesions such as papules, urticarial plaques, erythema, and herpetiform vesiculae, with a predominantly symmetrical distribution on extensor surfaces of the elbows (90%), knees (30%), shoulders, buttocks, sacral region, and face of children and adults. Erosions, excoriations and hyperpigmentation usually follow. DH may also appear as a consequence of gluten intolerance.]
autosomal recessive cerebellar ataxia - pyramidal signs - nystagmus - oculomotor apraxia syndrome	MONDO_0018189	[Autosomal recessive cerebellar ataxia-pyramidal signs-nystagmus-oculomotor apraxia syndrome is a rare, genetic, slowly progressive neurodegenerative disease characterized by delayed psychomotor development beginning in infancy, mild to profound intellectual disability, gait and stance ataxia, pyramidal signs (hyperreflexia, extensor plantar responses), dysarthria, and ocular abnormalities (e.g. nystagmus, oculomotor apraxia, abduction deficits, esotropia, ptosis). Brain imaging reveals progressive, generalized cerebellar atrophy, mild ventriculomegaly and, in some, retrocerebellar cysts.]
inborn disorder of amino acid absorption and transport	MONDO_0019216
genetic intestinal polyposis	MONDO_0018188
polyposis	MONDO_0000147
Penicillium rugulosum	NCBITaxon_121627
congenital anomaly of the great veins	MONDO_0018185
genetic vascular anomaly	MONDO_0016229	[An instance of vascular anomaly that is caused by a modification of the individual's genome.]
congenital heart malformation	EFO_0005269	[A disease that has its basis in the disruption of heart development., any structural anomly of the heart that is present from birth]
Mobala virus	NCBITaxon_55097
Ippy virus	NCBITaxon_55096
keratinization disease	MONDO_0045011
kernicterus due to isoimmunization	EFO_1000721	[Encephalopathy in infants due to high levels of unconjugated bilirubin that are a result of Rh incompatibility between the mother and the fetus., a bilirubin-induced brain dysfunction in new-born due to isoimmunization]