Terminology Service < Semantic Lookup Platform

All terms in EFO

Label	Id	Description
diencephalic cancer	MONDO_0002786	[A cancer involving a diencephalon.]
oleamide	CHEBI_116314	[A fatty amide derived from oleic acid.]
obsolete_combined immunodeficiency due to DOCK8 deficiency	Orphanet_217390
obsolete_progressive demyelinating neuropathy with bilateral striatal necrosis	Orphanet_217396
spinocerebellar ataxia type 42	MONDO_0014776
Microduplication Xp11.22-p11.23 syndrome	Orphanet_217377	[ recurrent Xp11.22-p11.23 microduplication has been recently identified in males and females.]
hypertrophic cardiomyopathy 10	MONDO_0012112	[Any hypertrophic cardiomyopathy in which the cause of the disease is a mutation in the MYL2 gene.]
cardiac anomalies - developmental delay - facial dysmorphism syndrome	MONDO_0014773
ALG9-CDG	MONDO_0012117	[A form of congenital disorders of N-linked glycosylation characterized by progressive microcephaly, hypotonia, developmental delay, drug-resistant infantile epilepsy, and hepatomegaly. Additional features that may be observed include failure to thrive, pericardial effusion, renal cysts, skeletal dysplasia, facial dysmorphism (frontal bossing, hypertelorism, depressed nasal bridge, low-seated ears, large mouth) and hydrops fetalis. The disease is caused by loss-of-function mutations in the gene ALG9 (11q23).]
Multiple cutaneous leiomyomas	HP_0007437	[The presence of multiple leiomyomas of the skin.]
COG7-CDG	MONDO_0012118	[COG7-CDG is a congenital disorder of glycosylation characterised by dysmorphism, skeletal dysplasia, hypotonia, hepatosplenomegaly, jaundice, cardiac insufficiency, recurrent infections and epilepsy. To date, it has been described in two infants, both of whom died within the first three months of life. The syndrome is caused by a mutation in the gene encoding COG-7 (chromosome 16), a subunit of the oligomeric Golgi complex.]
defect in conserved oligomeric Golgi complex	MONDO_0017750
obsolete_midline cerebral malformation	Orphanet_268926
spinocerebellar ataxia type 8	MONDO_0012116	[Spinocerebellar ataxia type 8 (SCA8) is a subtype of type I autosomal dominant cerebellar ataxia (ADCA type I) characterized by cerebellar ataxia and cognitive dysfunction in almost three quarters of patients and pyramidal and sensory signs in approximately a third of patients.]
glutaric aciduria	MONDO_0000129
obsolete_severe congenital nemaline myopathy	Orphanet_171430
growth delay due to insulin-like growth factor type 1 deficiency	MONDO_0012110	[Growth delay due to insulin-like growth factor I deficiency is characterised by the association of intrauterine and postnatal growth retardation with sensorineural deafness and intellectual deficit.]
obsolete_intermediate nemaline myopathy	Orphanet_171433
Mirror polydactyly - vertebral segmentation - limbs defects	Orphanet_3004
obsolete_pyknoachondrogenesis	Orphanet_3003