Terminology Service < Semantic Lookup Platform

All terms in EFO

Label	Id	Description
neurohypophyseal diabetes insipidus	MONDO_0007450	[Hereditary central diabetes insipidus is a rare genetic subtype of central diabetes insipidus (CDI) characterized by polyuria and polydipsia due to a deficiency in vasopressin (AVP) synthesis.]
diabetes insipidus, nephrogenic, autosomal	MONDO_0007451
lissencephaly type 3-familial fetal akinesia sequence syndrome	MONDO_0019449	[Lissencephaly type 3-familial fetal akinesia sequence syndrome is characterised by the association of microencephaly, agenesis of the corpus callosum, brainstem hypoplasia, cystic cerebellum and foetal akinesia sequence. Less than 10 cases have been described so far. The syndrome is transmitted as an autosomal recessive trait and may be an allelic variant of Neu-Laxova syndrome and lissencephaly type III with metacarpal bone dysplasia.]
benign adult familial myoclonic epilepsy	MONDO_0019448	[Benign adult familial myoclonic epilepsy (BAFME) is an inherited epileptic syndrome characterized by cortical hand tremors, myoclonic jerks and occasional generalized or focal seizures with a non-progressive or very slowly progressive disease course, and no signs of early dementia or cerebellar ataxia.]
adolescent-onset epilepsy syndrome	MONDO_0020073
root nodule	PO_0003023	[Gall-like structures on the roots of legumes that contain symbiotic nitrogen-fixing bacteria.]
ATTRV122I amyloidosis	MONDO_0019441	[Transthyretin (TTR)-related familial amyloidotic cardiomyopathy is a hereditary TTR-related systemic amyloidosis (ATTR) with predominant cardiac involvement resulting from myocardial infiltration of abnormal amyloid protein.]
familial amyloid neuropathy	EFO_0004129	[Familial amyloid polyneuropathy (FAP) or transthyretin (TTR) amyloid polyneuropathy is a progressive sensorimotor and autonomic neuropathy of adulthood onset. Weight loss and cardiac involvement are frequent; ocular or renal complications may also occur., The familial amyloid neuropathies are a rare group of autosomal dominant neuropathies of autonomic and peripheral nerves.]
primary root differentiation zone	PO_0003015	[A root differentiation zone that is part of a primary root.]
pentachloronitrobenzene	CHEBI_34908
Trichoplax adhaerens	NCBITaxon_10228
paraquat	CHEBI_34905	[A synthetic form of the Ras peptide containing a point mutation at position 12 (glycine to cysteine) with potential antineoplastic activity. Vaccination with this peptide may stimulate the host immune system to mount a cytotoxic T lymphocyte (CTL) response against tumor cells positive for this Ras mutation, resulting in decreased tumor growth. (NCI04)]
short stature-valvular heart disease-characteristic facies syndrome	MONDO_0007461	[Short stature-valvular heart disease-characteristic facies syndrome is characterised by severe short stature with disproportionately short legs, small hands, clinodactyly, valvular heart disease and dysmorphism (ptosis, high-arched palate, abnormal dentition). It has been described in a mother and two daughters. This syndrome is probably transmitted as an autosomal dominant trait.]
multiple sclerosis, susceptibility to	MONDO_0007462
calvarial doughnut lesions-bone fragility syndrome	MONDO_0007470	[This syndrome is characterised by multiple doughnut-shaped hyperostotic or osteosclerotic lesions of the calvaria.]
Doyne honeycomb retinal dystrophy	MONDO_0007471	[Doyne honeycomb retinal dystrophy (DHRD) is a condition that affects the eyes and causes vision loss. It is characterized bysmall, round, white spots known as drusen that accumulate beneath the retinal pigment epithelium(the pigmented layer of the retina). Over time, drusen may grow and come together, creating a honeycomb pattern. It usually begins in early to mid adulthood, but the age of onset varies.The degree of vision loss also varies. DHRD is usually caused by mutations in the EFEMP1 gene and is inherited in an autosomal dominant manner.]
disease predisposing to age-related macular degeneration	MONDO_0020245
retinal drusen	EFO_1001155	[Colloid or hyaline bodies lying beneath the retinal pigment epithelium. They may occur either secondary to changes in the choroid that affect the pigment epithelium or as an autosomal dominant disorder of the retinal pigment epithelium.]
acute panmyelosis with myelofibrosis	MONDO_0019455	[An acute myeloid leukemia characterized by bone marrow fibrosis without preexisting primary myelofibrosis.]
therapy related acute myeloid leukemia and myelodysplastic syndrome	MONDO_0019457	[An acute myeloid leukemia secondary to a myelodysplastic syndrome or therapy-related. (WHO, 2001)]