Terminology Service < Semantic Lookup Platform

All terms in EFO

Label	Id	Description
hereditary renal cell carcinoma	MONDO_0003008	[An instance of renal cell carcinoma (disease) that is caused by an inherited modification of the individual's genome.]
hepatic failure, early-onset, and neurologic disorder due to cytochrome c oxidase deficiency	EFO_0009298	[Liver failure due to a mitochondrial oxidative phosphorylation disorder due to cytochrome c oxidase deficiency.]
Mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies	Orphanet_2443	[Mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies is a group of clinically heterogeneous diseases, commonly defined by lack of cellular energy due to defects of oxidative phosphorylation (OXPHOS), resulting from pathogenic mutations in the nuclear DNA. Mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies includes diseases classified according to defects in: genes encoding structural components of OXPHOS complexes (such as Leigh syndrome, coenzyme Q10 deficiency); genes encoding assembly factors of OXPHOS complexes (such as GRACILE syndrome); genes altering the stability of mitochondrial DNA (such as autosomal dominant progressive external ophthalmoplegia, mitochondrial DNA depletion syndrome); mitochondrial protein synthesis (see these terms).]
nervous system measurement	EFO_0005052
marfan syndrome/loeys-dietz syndrome/familial thoracic aortic aneurysms and dissections	EFO_0009299
Marfan and Marfan-related disorder	MONDO_0017310
integumentary system disease	EFO_0010285	[A disease involving the integumental system.]
hypercholanemia, familial 1	MONDO_0031446	[A very rare genetic disorder characterized clinically by elevated serum bile acid concentrations, itching, and fat malabsorption reported in patients of Old Order Amish descent.]
hypercholanemia, familial	MONDO_0100327
banks of the superior temporal sulcus volume measurement	EFO_0010286	[Quantification of the volume of the banks of the superior temporal sulcus.]
blood disease	EFO_0010283	[A disease that occurs in the blood.]
hepatobiliary disease	EFO_0010284	[A non-neoplastic or neoplastic disorder that affects the liver, bile ducts, and gallbladder. Representative examples of non-neoplastic disorders include hepatitis, cirrhosis, cholangitis, and cholecystitis. Representative examples of neoplastic disorders include hepatocellular adenoma, hepatocellular carcinoma, and cholangiocarcinoma.]
obsolete_Lowry-Wood syndrome	Orphanet_1824
digestive system infectious disorder	MONDO_0043424	[A viral, bacterial, fungal, or parasitic infectious process that affects the digestive system.]
obsolete_dysplasia epiphysealis hemimelica	Orphanet_1822
obsolete_Biemond syndrome type 2	Orphanet_141333
intellectual developmental disorder, autosomal recessive 71	EFO_0010280	[A form of intellectual disability, a disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. Intellectual deficiency is the only primary symptom of non-syndromic intellectual disability, while syndromic intellectual disability presents with associated physical, neurological and/or psychiatric manifestations. MRT71 features include impaired intellectual development, global developmental delay, mildly delayed walking, poor language, seizures in the first years of life, and behavioral abnormalities.]
obsolete_orofaciodigital syndrome type 13	Orphanet_141330
Frontal upsweep of hair	HP_0002236	[Upward and/or sideward growth of anterior hair.]
Abnormal hair pattern	HP_0010720	[An abnormality of the distribution of hair growth.]