Terminology Service < Semantic Lookup Platform

All terms in EFO

Label	Id	Description
Abnormality of visual evoked potentials	HP_0000649	[An anomaly of visually evoked potentials (VEP), which are electrical potentials, initiated by brief visual stimuli, which are recorded from the scalp overlying the visual cortex.]
thalamic disorder	MONDO_0003081	[A disorder of the thalamus. Causes include brain neoplasms, cerebrovascular disorders, brain trauma, brain hypoxia, infections, and brain hemorrhage. Signs and symptoms include movement and sensory abnormalities, visual abnormalities, ataxia, and coma.]
fetal akinesia-cerebral and retinal hemorrhage syndrome	MONDO_0014149	[Fetal akinesia-cerebral and retinal hemorrhage syndrome is a rare, lethal, congenital myopathy syndrome characterized by decreased fetal movements and polyhydraminos in utero and the presence of akinesia, severe hypotonia with respiratory insufficiency, absent reflexes, joint contractures, skeletal abnormalities with thin ribs and bones, intracranial and retinal hemorrhages and decreased birth weight in the neonate.]
lethal congenital contracture syndrome	MONDO_0017436	[A syndrome characterized by congenital nonprogressive joint contractures. The contractures can involve the upper or lower limbs and/or the vertebral column, leading to various degrees of flexion or extension limitations evident at birth.]
congenital myopathy	MONDO_0019952
obsolete_pantothenate kinase-associated neurodegeneration	Orphanet_157850
neuronal ceroid lipofuscinosis 13	MONDO_0014147	[Any neuronal ceroid lipofuscinosis in which the cause of the disease is a mutation in the CTSF gene.]
Staphylococcus carnosus	NCBITaxon_1281
Staphylococcus aureus	NCBITaxon_1280
autosomal recessive limb-girdle muscular dystrophy type R18	MONDO_0014144	[A form of limb-girdle muscular dystrophy characterized by childhood-onset of progressive proximal muscle weakness (leading to reduced ambulation) with myalgia and fatigue, in addition to infantile hyperkinetic movements, truncal ataxia, and intellectual disability. Additional manifestations include scoliosis, hip dysplasia, and less commonly, ocular features (e.g. myopia, cataract) and seizures.]
autosomal recessive limb-girdle muscular dystrophy	MONDO_0015152	[Autosomal recessive form of limb-girdle muscular dystrophy.]
Staphylococcus haemolyticus	NCBITaxon_1283
autosomal recessive limb-girdle muscular dystrophy type 2T	MONDO_0014142	[Autosomal recessive limb-girdle muscular dystrophy type 2T (LGMD2T) is a form of limb-girdle muscular dystrophy, that can present from birth to early childhood, characterized by hypotonia, microcephaly, mild proximal muscle weakness (leading to delayed walking and difficulty climbing stairs), mild intellectual disability and epilepsy. Additional manifestations reported in some patients include cataracts, nystagmus, cardiomyopathy, and respiratory insufficiency.]
Staphylococcus epidermidis	NCBITaxon_1282
Mild proteinuria	HP_0012595	[Mildly increased levels of protein in the urine (150-500 mg per day in adults).]
Moderate albuminuria	HP_0012594	[The presence of moderately increased concentrations of albumin in the urine, defined as and albumin-creatinine ratio (ACR) of 30 to 299 mg/gm (3.4 to 34 mg/mmol).]
albuminuria	EFO_0004285	[The presence of albumin in the urine, an indicator of KIDNEY DISEASES.]
rectum malignant melanoma	MONDO_0002167	[An aggressive malignant melanocytic neoplasm that arises from the rectum.]
rectum neuroendocrine neoplasm	MONDO_0003646	[A neoplasm with neuroendocrine differentiation that arises from the rectum. It includes well differentiated neuroendocrine tumors (low and intermediate grade) and poorly differentiated neuroendocrine carcinomas (high grade).]
digestive system melanoma	MONDO_0045070	[A melanoma that arises from any part of the digestive system.]