Terminology Service < Semantic Lookup Platform

All terms in EFO

Label	Id	Description
obsolete Central hypotonia	HP_0011398
angiokeratoma	MONDO_0003143	[A vascular lesion in the papillary dermis resulting from ectasia of pre-existing vessels. It is associated with secondary proliferative changes in the overlying epidermis (hyperkeratosis). It can present with widespread lesions (angiokeratoma corporis diffusum, often associated with inborn errors of metabolism) or as a localized lesion (angiokeratoma of Fordyce, angiokeratoma circumscriptum, and angiokeratoma of Mibelli).]
Hereditary persistence of alpha-fetoprotein	Orphanet_168615	[Hereditary persistence of alpha-fetoprotein is a benign genetic condition characterized by persistence of high alpha-fetoprotein (AFP) levels throughout life, with no associated clinical disability and thus no need for specific therapy]
Congenital deficiency in alpha-fetoprotein	Orphanet_168612	[Congenital deficiency in alpha-fetoprotein is a benign genetic condition characterized by a dramatically decreased level of alpha-fetoprotein in fetus or neonate.]
Xq12-q13.3 duplication syndrome	MONDO_0017794	[Xq12-q13.3 duplication syndrome is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the long arm of chromosome X, characterized by global developmental delay, autistic behavior, microcephaly and facial dysmorphism (including down-slanting palpebral fissures, depressed nasal bridge, anteverted nares, long philtrum, down-slanting corners of the mouth). Seizures have also been reported in some patients.]
acquired chronic primary adrenal insufficiency	MONDO_0015130	[An instance of chronic primary adrenal insufficiency that is acquired during the lifetime of the individual.]
neutropenia	MONDO_0001475	[A decrease in the number of neutrophils found in the blood.]
high bone mass osteogenesis imperfecta	MONDO_0017791
7p22.1 microduplication syndrome	MONDO_0017792	[7p22.1 microduplication syndrome is a rare chromosomal anomaly syndrome, resulting from a partial interstitial microduplication of the short arm of chromosome 7, characterized by intellectual disability, psychomotor and speech delays, craniofacial dysmorphism (including macrocephaly, frontal bossing, hypertelorism, abnormally slanted palpebral fissures, anteverted nares, low-set ears, microretrognathia) and cryptorchidia. Cardiac (e.g., patent foramen ovale and atrial septal defect), as well as renal, skeletal and ocular abnormalities may also be associated.]
marfanoid habitus-inguinal hernia-advanced bone age syndrome	MONDO_0017793
lysophosphatidylcholine 14:0	CHEBI_64483	[A lysophosphatidylcholine in which the remaining acyl group is specified as tetradecanoyl (myristoyl). If R1 is the acyl group and R2 is a hydrogen then the molecule is a 1-acyl-sn-glycero-3-phosphocholine. If R1 is a hydrogen and R2 is the acyl group then the molecule is a 2-acyl-sn-glycero-3-phosphocholine.]
malignant myoepithelioma	MONDO_0003158	[An infiltrating malignant tumor characterized by the presence of atypical cells with myoepithelial differentiation. Representative examples include malignant breast myoepithelioma and salivary gland myoepithelial carcinoma.]
1-myristoyl-sn-glycero-3-phosphocholine	CHEBI_64489	[A lysophosphatidylcholine 14:0 in which the acyl group specified is myristoyl. The major species at pH 7.3.]
lysophosphatidylcholine 20:3	CHEBI_64481	[A lysophosphatidylcholine in which the acyl group contains 20 carbons with 3 double bonds. If R1 is an acyl group and R2 is a hydrogen then the molecule is a 1-acyl-sn-glycero-3-phosphocholine. If R1 is a hydrogen and R2 is an acyl group then the molecule is a 2-acyl-sn-glycero-3-phosphocholine.]
obsolete other syndrome with lissencephaly as a major feature	MONDO_0015147
early-onset autosomal dominant Alzheimer disease	MONDO_0015140	[A progressive dementia with reduction of cognitive functions. It presents the same phenotype as sporadic Alzheimer disease (AD) but has an early age of onset, usually before 60 years old.]
Kleefstra syndrome 2	MONDO_0054701
proteasome-associated autoinflammatory syndrome 2	MONDO_0054700
cerebellar pilocytic astrocytoma	MONDO_0003168	[A WHO Grade 1 astrocytoma which arises in the cerebellum. The tumor is composed of spindle shaped cells with numerous collections of reddish astrocytic fibers called Rosenthal fibers. Over 80% or the cerebellar astrocytomas of childhood are pilocytic. Pilocytic astrocytomas may rarely occur in adults. They are usually treated by surgical resection and in most cases have a favorable prognosis.]
cerebellar astrocytoma	MONDO_0003165	[Benign and malignant neoplasms of the cerebellum that arise from astrocytes. During childhood the majority are benign pilocytic astrocytomas. In adults both benign and relatively higher grade forms may occur. The most common presenting symptoms are headache, nausea, vomiting, ataxia of gait or limb, paresis, diplopia, and dizziness. Objective signs include weakness, long tract signs, dysmetria, gait ataxia, papilledema, and nystagmus. Surgical resection is often curative.]