Terminology Service < Semantic Lookup Platform

All terms in EFO

Label	Id	Description
de Sanctis-Cacchione syndrome	MONDO_0010217	[A rare autosomal recessive inherited syndrome. It is characterized by xeroderma pigmentosum, mental retardation, dwarfism, hypogonadism, and neurologic abnormalities.]
hypogonadotropic hypogonadism 24 without anosmia	MONDO_0009239	[Any hypogonadotropic hypogonadism in which the cause of the disease is a mutation in the FSHB gene.]
hip bone mineral density	EFO_0007702	[mineral density of the hip bone]
xeroderma pigmentosum group G	MONDO_0010216	[Any xeroderma pigmentosum in which the cause of the disease is a mutation in the ERCC5 gene.]
hereditary folate malabsorption	MONDO_0009238	[Hereditary folate malabsorption (HFM) is an inherited disorder of folate transport characterized by a systemic and central nervous system (CNS) folate deficiency manifesting as megaloblastic anemia, failure to thrive, diarrhea and/or oral mucositis, immunologic dysfunction and neurological disorders.]
megaloblastic anemia	MONDO_0001700	[Anemia characterized by the presence of unusually large erythroblasts in the bone marrow called megaloblasts. It is usually caused by vitamin B12 or folic acid deficiency. Other causes include toxins and drugs.]
intestinal disease due to vitamin absorption anomaly	MONDO_0015179
spine bone mineral density	EFO_0007701	[mineral density of the spine bones]
vertebra	UBERON_0002412	[The ossified form of a vertebral element, a skeletal element that forms around the notochord and is part of the vertebral column.]
exploratory eye movement measurement	EFO_0007700	[quantification of a participant’s eye tracking while viewing stationary S-shaped figures]
Kandori fleck retina	MONDO_0009236	[Kandori fleck retina is a rare, genetic retinal dystrophy characterized by irregular, sharply defined, yellowish-white lesions of variable size that are distributed mainly in the nasal equatorial region of the retina, with a tendency to confluence, that are not associated with any vascular or optic nerve abnormalities. They frequently manifest as mild and stationary night blindness.]
cerebral amyloid deposition measurement	EFO_0007707	[quantification by PET scan imaging or other techniques of the deposition of amyloid proteins in any part of the cerebral cortex]
familial benign flecked retina	MONDO_0009235	[Familial benign flecked retina is a rare retinal dystrophy characterized by diffuse bilateral white-yellow fleck-like lessions extending to the far periphery of the retina but sparing the foveal region, with asymptomatic clinical phenotype and absence of electrophysiologic deficits.]
manic or hypomanic episode	EFO_0007706	[period of manic or hypomanic symptoms that occurs as part of a wider mental or psychiatric disorder such as bipolar disorder]
obsolete_Beta-propeller protein-associated neurodegeneration	Orphanet_329284
congenital high-molecular-weight kininogen deficiency	MONDO_0009234	[A rare autosomal recessive inherited disorder characterized by prolonged partial thromboplastin time and absence of bleeding diathesis.]
manic episode measurement	EFO_0007705	[quantification of some aspect, eg frequency or severity, of manic episodes in patients with bipolar disorder]
Fibulo-ulnar hypoplasia-renal anomalies syndrome	MONDO_0009233	[Fibulo-ulnar hypoplasia-renal anomalies syndrome is characterized by fibuloulnar dysostosis with renal anomalies. It has been described in two sibs born to nonconsanguinous parents. The syndrome is lethal at birth (respiratory failure). Clinical manifestations include ear and facial anomalies (including micrognathia), symmetrical shortness of long bones, fibular agenesis and hypoplastic ulna, oligosyndactyly, congenital heart defects, and cystic or hypoplastic kidney. It is transmitted as an autosomal recessive trait.]
depressive episode measurement	EFO_0007704	[quantification of some aspect, eg frequency or severity, of depressive episodes in patients with mental or behavioural disorders such as bipolar disorder or clinical depression]
Fuhrmann syndrome	MONDO_0009232	[Fuhrmann syndrome is mainly characterized by bowing of the femora, aplasia or hypoplasia of the fibulae and poly-, oligo-, and syndactyly.]