Terminology Service < Semantic Lookup Platform

All terms in EFO

Label	Id	Description
CE(18:1(11Z))	CHEBI_88768
long QT syndrome 15	MONDO_0014550	[Any long QT syndrome in which the cause of the disease is a mutation in the CALM2 gene.]
orbit embryonal rhabdomyosarcoma	MONDO_0002579	[A malignant mesenchymal neoplasm that arises from the orbit. It is characterized by the presence of skeletal muscle tissue exhibiting embryonic features.]
orbit rhabdomyosarcoma	MONDO_0002580	[A malignant mesenchymal neoplasm with skeletal muscle differentiation that arises from the orbit.]
pregnanediol-3-glucuronide	CHEBI_88765
Rare genetic adrenal disease	Orphanet_183637
Tip-toe gait	HP_0030051	[An abnormal gait pattern characterized by the failure of the heel to contact the floor at the onset of stance during gait.]
Inguinal freckling	HP_0030052	[The presence in the inguinal region (groin) of an increased number of freckles, small circular spots on the skin that are darker than the surrounding skin because of deposits of melanin.]
obsolete_lethal acantholytic epidermolysis bullosa	Orphanet_158687
Charcot-Marie-Tooth disease axonal type 2U	MONDO_0014566	[Autosomal dominant Charcot-Marie-Tooth disease type 2U (CMT2U) is a subtype of autosonal dominant Charcot-Marie-Tooth disease type 2 characterized by late adult-onset (50-60 years of age) of slowly progressive, axonal, peripheral sensorimotor neuropathy resulting in distal upper limb and proximal and distal lower limb muscle weakness and atrophy, in conjunction with distal, panmodal sensory impairment in upper and lower limbs. Tendon reflexes are reduced and nerve conduction velocities range from reduced to absent. Neuropathic pain has also been associated.]
congenital bile acid synthesis defect 5	MONDO_0014564	[Any congenital bile acid synthesis defect in which the cause of the disease is a mutation in the ABCD3 gene.]
Epidermolysis bullosa simplex with pyloric atresia	Orphanet_158684	[Epidermolysis bullosa simplex with pyloric atresia (EBS-PA) is a basal subtype of epidermolysis bullosa simplex (EBS, see this term) characterized by generalized severe blistering with widespread congenital absence of skin and pyloric atresia.]
Epidermolysis bullosa simplex with circinate migratory erythema	Orphanet_158681	[Epidermolysis bullosa simplex with circinate migratory erythema (EBS-migr) is a basal subtype of epidermolysis bullosa simplex (EBS, see this term) characterized by belt-like areas of erythema with multiple vesicles and small blisters at the advancing edge of erythema.]
mitochondrial short-chain Enoyl-Coa hydratase 1 deficiency	MONDO_0014563
Leigh syndrome with leukodystrophy	MONDO_0016815
Abnormal drinking behavior	HP_0030082	[Abnormal consumption of fluids with excessive or insufficient consumption of fluid or any other abnormal pattern of fluid consumption.]
Autosomal recessive spastic paraplegia type 32	Orphanet_171622
thymoma type A	MONDO_0002588	[A thymic epithelial neoplasm characterized by the presence of spindle and/or oval neoplastic epithelial cells. Lymphocytic infiltration is minimal or absent. It may be associated with myasthenia gravis or pure red cell aplasia. The majority of cases occur in the anterior mediastinum as Masaoka stage I tumors. Approximately 20% of the cases occur as stage II or stage III tumors. Type A thymoma generally behaves as a benign tumor and the overall survival is reported to be 100% at 5 and 10 years.]
Autosomal recessive spastic paraplegia type 35	Orphanet_171629
Clinodactyly	HP_0030084	[An angulation of a digit at an interphalangeal joint in the plane of the palm (finger) or sole (toe).]