Terminology Service < Semantic Lookup Platform

All terms in EFO

Label	Id	Description
myoseptum	UBERON_2001089
synpolydactyly type 3	MONDO_0012447
seborrhea-like dermatitis with psoriasiform elements	MONDO_0012446
hereditary multiple exostoses	EFO_0005560	[An exostosis that has_material_basis_in a mutation on the genes EXT1, EXT2 and EXT3 which results_in multiple bony spurs throughout a child's growth.]
bilirubin metabolism disease	MONDO_0024431
Hypoplastic tibiae - postaxial polydactyly	Orphanet_3332
Ochoa syndrome	MONDO_0000463	[Ochoa syndrome is characterized by the association of severe voiding dysfunction and a characteristic facial expression.]
Bowed tibiae - radial anomalies - osteopenia - fractures	Orphanet_3331
sinoatrial node disorder	MONDO_0000469	[A disease involving the sinoatrial node.]
janus kinase-3 deficiency	EFO_0005565	[Deficiency of janus kinase-3 causing the near absence of T lymphocytes and Natural killer cells; and normal or elevated B lymphocytes due to an autosomal recessive variant of severe combined immunodeficiency.]
third-degree atrioventricular block	MONDO_0000468	[A disorder characterized by an electrocardiographic finding of complete failure of atrial electrical impulse conduction to the ventricles. This is manifested on the ECG by disassociation of atrial and ventricular rhythms. The atrial rate must be faster than the ventricular rate. (CDISC)]
hydronephrosis	EFO_0005562	[Collection of urine in the renal pelvis that results in dilatation of the renal pelvis and calyces. It is caused by obstruction of urine flow, nephrolithiasis, or vesicoureteral reflux. Signs and symptoms include flank pain, nausea, vomiting, fever, and dysuria.]
obsolete_hypercalcemia	EFO_0005563	[An homeostasis disorder leading to an abnormally increased calcium concentration in the blood.]
methylmalonic aciduria and homocystinuria type cblE	EFO_0005568	[Methylmalonic acidemia with homocystinuria is an inborn error of vitamin B12 (cobalamin) metabolism characterized by megaloblastic anemia, lethargy, failure to thrive, developmental delay, intellectual deficit and seizures.intellectual deficit and seizures.]
pontocerebellar hypoplasia type 5	MONDO_0012438	[Pontocerebellar hypoplasia type 5 (PCH5) is a very rare severe form of PCH with prenatal onset and characterized by fetal onset of clonus or seizures-like activity persisting in infancy and microencephaly leading to early postnatal death. There is significant overlap both in phenotype and in genotype between pontocerebellar hypoplasia types 4 and 5.]
malignant peritoneal mesothelioma	EFO_0005567	[An aggressive malignant mesothelioma that arises from the peritoneum. Patients usually present with abdominal pain and ascites.]
peritoneum	UBERON_0002358	[A serous membrane that lines the peritoneal cavity[VHOG,modified].]
obsolete_Toriello-Lacassie-Droste syndrome	Orphanet_3339
Alagille syndrome due to a NOTCH2 point mutation	MONDO_0012439
obsolete_Toriello-Carey syndrome	Orphanet_3338	[Toriello Carey syndrome is a multiple congenital anomaly syndrome characterized by craniofacial dysmorphic features, cerebral anomalies, swallowing difficulties, cardiac defects and hypotonia.]