Terminology Service < Semantic Lookup Platform

All terms in EFO

Label	Id	Description
obsolete_familial lipoprotein lipase deficiency	Orphanet_309015
obsolete_beta-ureidopropionase deficiency	Orphanet_65287
Chronic pain	HP_0012532	[Persistent pain, usually defined as pain that has lasted longer than 3 to 6 months.]
obsolete_biotin-responsive basal ganglia disease	Orphanet_65284
obsolete_Timothy syndrome	Orphanet_65283
skin carcinoma in situ	MONDO_0004641	[A in situ carcinoma that involves the zone of skin.]
acute myeloid leukemia, t(16;21)(p11;q22)	MONDO_0100410	[Any acute myeloid leukemia that has the chromosomal anomaly t(16;21)(p11;q22). (A chromosomal translocation involving the FUS gene on chromosome 16p11 and the ERG gene on chromosome 21q22.)]
3q29 microdeletion syndrome	Orphanet_65286	[3q29 microdeletion syndrome is a recurrent subtelomeric deletion syndrome with variable clinical manifestations including intellectual deficit and dysmorphic features.]
alcoholic gastritis	MONDO_0004640	[Inflammation of the stomach resulting from alcohol ingestion.]
obsolete acute myeloid leukemia, NPM1 gene mutation	MONDO_0100411
obsolete_Lhermitte-Duclos disease	Orphanet_65285
acute myeloid leukemia, monoallelic CEBPA gene mutation	MONDO_0100412	[Any acute myeloid leukemia that has the chromosomal anomaly monoallelic CEBPA gene mutation. (The presence of mutations in only one allele of the CEBPA gene.)]
acute myeloid leukemia, biallelic CEBPA gene mutation	MONDO_0100413	[Any acute myeloid leukemia that has the chromosomal anomaly biallelic CEBPA gene mutation. (The presence of mutations in both alleles of the CEBPA gene.)]
autosomal recessive hypohidrotic ectodermal dysplasia	MONDO_0016619	[A rare autosomal recessive disorder characterized by developmental abnormalities of the skin, sweat glands, hair and nails. Patients have a reduced ability to sweat. Other signs and symptoms include hypotrichosis and teeth malformations.]
hypohidrotic ectodermal dysplasia	MONDO_0016535	[A genetic disorder of ectoderm development characterized by malformation of ectodermal structures such as skin, hair, teeth and sweat glands. It comprises three clinically almost indistinguishable subtypes with impaired sweating as the key symptom: Christ-Siemens-Touraine (CST) syndrome (X-linked), autosomal recessive (AR), and autosomal dominant (AD) HED, as well as a fourth rare subtype with immunodeficiency as the key symptom (HED with immunodeficiency).]
Corneal scarring	HP_0000559
Corneal opacity	HP_0007957	[A reduction of corneal clarity.]
acute myeloid leukemia, CEBPA gene mutation	MONDO_0100414	[Any acute myeloid leukemia that has the chromosomal anomaly CEBPA gene mutation. (Mutation of the CEBPA gene encoding CCAAT/enhancer binding protein alpha. It is seen in acute myeloid leukemias usually associated with a normal karyotype.)]
obsolete_Woolly hair-palmoplantar keratoderma-dilated cardiomyopathy syndrome	Orphanet_65282
acute myeloid leukemia, FLT3 internal tandem duplication	MONDO_0100415	[Any acute myeloid leukemia that has the chromosomal anomaly FLT3 internal tandem duplication. (A genetic abnormality that arises from duplications of the juxtamembrane portion of the gene and results in constitutive activation of the FLT3 receptor tyrosine kinase protein in early hematopoietic progenitor cells. It is associated with acute myelogenous leukemia where it appears to correlate with a poor prognosis.)]