Terminology Service < Semantic Lookup Platform

All terms in EFO

Label	Id	Description
diacylglycerol 36:1	CHEBI_86980	[A diglyceride in which the two acyl groups contain a total of 36 carbons and 1 double bond.]
Dubowitz syndrome	MONDO_0009124	[Dubowitz syndrome (DS) is a rare multiple congenital syndrome characterized primarly by growth retardation, microcephaly, distinctive facial dysmorphism, cutaneous eczema, a mild to severe intellectual deficit and genital abnormalities.]
dopamine beta-hydroxylase deficiency	MONDO_0009123	[Dopamine beta-hydroxylase deficiency is an extremely rare genetic metabolic disorder characterized by autonomic dysregulation leading mainly to orthostatic hypotension.]
inherited orthostatic hypotension	MONDO_0021272
obsolete_Radio-ulnar synostosis	Orphanet_3269
autosomal recessive ataxia due to ubiquinone deficiency	MONDO_0012784	[This syndrome is characterised by childhood-onset progressive ataxia and cerebellar atrophy.]
thrombocytopenia-absent radius syndrome	MONDO_0010121	[Thrombocytopenia-absent radius (TAR) syndrome is a very rare congenital malformation syndrome characterized by bilateral radial aplasia and thrombocytopenia.]
Riley-Day syndrome	MONDO_0009131	[A congenital disorder caused by mutations in the IKBKAP gene. It is characterized by damage of the sympathetic and parasympathetic and sensory nervous system.]
thrombocytopenia 3	MONDO_0010120
autosomal thrombocytopenia with normal platelets	MONDO_0015679
Dyggve-Melchior-Clausen disease	MONDO_0009130	[Dyggve-Melchior-Clausen disease (DMC) is a rare skeletal disorder belonging to the group of spondyloepimetaphyseal dysplasias.]
absent thumb-short stature-immunodeficiency syndrome	MONDO_0010123	[An exceedingly rare, autosomal recessive immune disease characterized by thumb aplasia, short stature with skeletal abnormalities, and combined immunodeficiency described in three sibships from two possibly related families. The skeletal abnormalities included unfused olecranon and the immunodeficiency manifested with severe chickenpox and chronic candidiasis. No new cases have been reported since 1978.]
RFT1-CDG	MONDO_0012783	[RFT1-CDG is a form of congenital disorders of N-linked glycosylation characterized by poorly coordinated suck resulting in difficulty feeding and failure to thrive; myoclonic jerks with hypotonia and brisk reflexes progressing to a seizure disorder; roving eyes; developmental delay; poor to absent visual contact; and sensorineural hearing loss. Additional features that may be observed include coagulation factor abnormalities, inverted nipples and microcephaly. The disease is caused by mutations in the gene RFT1 (3p21.1).]
congenital thrombotic thrombocytopenic purpura	MONDO_0010122	[Congenital thrombotic thrombocytopenic purpura is the hereditary form of thrombotic thrombocytopenic purpura (TTP) characterized by profound peripheral thrombocytopenia, microangiopathic hemolytic anemia (MAHA) and single or multiple organ failure of variable severity.]
upper limb defect-eye and ear abnormalities syndrome	MONDO_0010125	[Upper limb defect - eye and ear abnormalities syndrome associates upper limb defects (hypoplastic thumb with hypoplasia of the metacarpal bone and phalanges and delayed bone maturation), developmental delay, central hearing loss, unilateral poorly developed antihelix, bilateral choroid coloboma and growth retardation.]
dystonia 16	MONDO_0012789	[Dystonia 16 (DYT16) is a very rare and newly discovered movement disorder which is characterized by early-onset progressive limb dystonia, laryngeal and oromandibular dystonia, and parkinsonism.]
thymoma, familial	MONDO_0010127	[An instance of thymoma (disease) that is caused by an inherited modification of the individual's genome.]
juvenile cataract-microcornea-renal glucosuria syndrome	MONDO_0012786	[Juvenile cataract - microcornea - renal glucosuria is an extremely rare autosomal dominant association reported in a single Swiss family and characterized clinically by juvenile cataract associated with bilateral microcornea, and renal glucosuria without other renal tubular defects.]
hereditary spastic paraplegia 39	MONDO_0012787	[This syndrome is characterised by progressive spastic paraplegia and distal muscle wasting.]
central centrifugal cicatricial alopecia	MONDO_0022113