Terminology Service < Semantic Lookup Platform

All terms in EFO

Label	Id	Description
cranial vault morphology measurement	EFO_0009278	[Quantification of any aspect of the morphology of the cranial vault, including shape, size, structure or pattern. The cranial vault is a region comprising interlocking flat bones surrounding the cerebral cortex.]
gastrointestinal ulceration, recurrent, with dysfunctional platelets	EFO_0010263	[An autosomal recessive disorder characterized by recurrent gastrointestinal mucosal ulcers, gastrointestinal bleeding, chronic anemia, iron deficiency, and abdominal pain. Disease features also include platelet dysfunction, and globally decreased eicosanoid synthesis.]
response to tenofovir	EFO_0009279	[Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) in response to the anti-retroviral drug tenofovir disoproxil, typically used in the treatment of HIV or hepatitis B infection.]
response to reverse transcriptase inhibitor	GO_0061479	[Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a reverse transcriptase inhibtor, a class of drugs used in treatment of HIV/AIDS, e.g. nivirapene.]
spinal muscular atrophy, lower extremity-predominant, 2B, prenatal onset, autosomal dominant	EFO_0010264	[An autosomal dominant neuromuscular disorder characterized by decreased fetal movements, fractures in utero, severe congenital joint contractures, arthrogryposis multiplex congenita, severe hypotonia, muscle atrophy, and respiratory insufficiency and failure due to muscle weakness. Some patients may have dysmorphic facial features and/or abnormalities on brain imaging. Death in early childhood may occur.]
spinal muscular atrophy	EFO_0008525	[Spinal muscular atrophy (SMA) refers to a group of inherited conditions that affect the muscles. The severity of the condition; the associated signs and symptoms; and the age at which symptoms develop varies by subtype. In general, people with SMA experience progressive weakness and atrophy of muscles involved in mobility, the ability to sit unassisted, and head control. Breathing and swallowing may also be affected in severe cases. SMA is generally caused by changes (mutations) in the SMN1 gene and is inherited in an autosomal recessive manner. Extra copies of the SMN2 gene modify the severity of SMA. Rare autosomal dominant (caused by mutations in DYNC1H1, BICD2, or VAPB genes) and X-linked (caused by mutations in UBA1) forms of SMA exist. Treatment is based on the signs and symptoms present in each person., Spinal muscular atrophy is a disorder of spinal motor neurons characterized clinically by the development of muscle weakness and atrophy.]
Paganini-Miozzo syndrome	EFO_0010261	[A X-linked, syndromic, neurodevelopmental disorder characterized by intellectual disability, global developmental delay, severe myopia, and mild facial dysmorphism.]
X-linked recessive disease	MONDO_0020605	[X-linked recessive form of disease.]
obsolete_kyphomelic dysplasia	Orphanet_1801
leukoencephalopathy, acute reversible, with increased urinary alpha-ketoglutarate	EFO_0010262	[An autosomal recessive disorder characterized by acute, reversible neurological deterioration during febrile illness. Patients exhibit reversible leukoencephalopathy and increased urinary excretion of alpha-ketoglutarate.]
obsolete_ghosal hematodiaphyseal dysplasia	Orphanet_1802
global developmental delay with or without impaired intellectual development	EFO_0010260	[An autosomal dominant disorder characterized by global developmental delay associated with mild-to-moderate intellectual disability, hypotonia and short stature in some patients.]
obsolete_ectodermal dysplasia, trichoodontoonychial type	Orphanet_1818
obsolete_Ectodermal dysplasia, Berlin type	Orphanet_1816
obsolete_orofaciodigital syndrome type 12	Orphanet_141327
Poliosis	HP_0002290	[Circumscribed depigmentation of the hair of the head or the eyelashes.]
Alopecia of scalp	HP_0002293
Abnormality of the head	HP_0000234	[An abnormality of the head.]
glycogen storage disease due to acid maltase deficiency, late-onset	MONDO_0018485	[Glycogen storage disease due to acid maltase deficiency, late onset (AMDL), a form of Glycogen storage disease due to acid maltase deficiency (AMD), a degenerative metabolic myopathy particularly affecting respiratory and skeletal muscles, is characterized by an accumulation of glycogen in lysosomes.]
glycogen storage disease II	MONDO_0009290	[Glycogen storage disease due to acid maltase deficiency (AMD) is an autosomal recessive trait leading to metabolic myopathy that affects cardiac and respiratory muscles in addition to skeletal muscle and other tissues. AMD represents a wide spectrum of clinical presentations caused by an accumulation of glycogen in lysosomes: Glycogen storage disease due to acid maltase deficiency, infantile onset, non-classic infantile onset and adult onset. Early onset forms are more severe and often fatal.]