Terminology Service < Semantic Lookup Platform

All terms in EFO

Label	Id	Description
mesenchyme derived from head neural crest	UBERON_0007213	[Mesenchyme that develops_from a cranial neural crest.]
head mesenchyme	UBERON_0005253	[Portion of primordial embryonic connective tissue of the developing head, consisting of mesenchymal cells supported in interlaminar jelly, that derive mostly from the mesoderm and contribute to head connective tissue, bone and musculature in conjunction with cranial neural crest cells.]
esophageal basaloid carcinoma	MONDO_0004093	[A rare morphologic variant of esophageal squamous cell carcinoma. Histologically, it is composed of closely packed cells with hyperchromatic nuclei and scant basophilic cytoplasm. It has a similar prognosis to the conventional squamous cell carcinoma of the esophagus. (WHO)]
basaloid squamous cell carcinoma	EFO_1001940	[A squamous cell carcinoma characterized by the presence of cells with hyperchromatic nuclei, scant amount of cytoplasm, and peripheral nuclear palisading.]
esophageal squamous cell carcinoma	EFO_0005922	[Esophageal squamous cell carcinoma (ESCC) is a type of esophageal carcinoma (EC) that can affect any part of the esophagus, but is usually located in the upper or middle third.]
Pleuropulmonary blastoma	EFO_0009052	[Pleuropulmonary blastoma (PPB) is a rare pediatric tumor of the lung that arises during fetal lung development and is often part of an inherited cancer syndrome (Hill et al., 2009). PPBs contain both epithelial and mesenchymal cells. Early in tumorigenesis, cysts form in lung airspaces, and these cysts are lined with benign-appearing epithelium.]
Primary progressive aphasia	EFO_0009053	[Primary progressive aphasia (PPA) is a neurodegenerative disorder, characterized by a primary dissolution of language, with relative sparing of other mental faculties for at least the first 2 years of illness. PPA is recognized as the language variant in the frontotemporal dementia (FTD) spectrum of disorders. PPA can be classified into 3 subtypes based on specific speech and language features: semantic dementia (SD), progressive non-fluent aphasia (PNFA) and logopenic progressive aphasia (lv-PPA)., Primary progressive aphasia (PPA) is a neurodegenerative disorder, characterized by a primary dissolution of language, with relative sparing of other mental faculties for at least the first 2 years of illness. PPA is recognized as the language variant in the frontotemporal dementia (FTD; see this term) spectrum of disorders. PPA can be classified into 3 subtypes based on specific speech and language features: semantic dementia (SD), progressive non-fluent aphasia (PNFA) and logopenic progressive aphasia (lv-PPA) (see these terms).]
RIDDLE syndrome	EFO_0009055	[A syndrome of increased radiosensitivity, immunodeficiency, mild motor control and learning difficulties, facial dysmorphism, and short stature.]
Autosomal recessive cerebellar ataxia due to a DNA repair defect	Orphanet_98097
Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome	EFO_0009050	[A rare autosomal dominant syndromic intellectual disability syndrome characterized by macrocephaly, seizures, umbilical hernia, and facial dysmorphic features including frontal bossing, midface hypoplasia, small chin, hypertelorism with downslanting palpebral fissures, depressed nasal bridge, smooth philtrum, and thin upper lip (Smith et al., 2013; Baynam et al., 2015).]
Non-immune hydrops fetalis	EFO_0009051	[A type of hydrops fetalis in which there is no identifiable circulating antibody to red blood cell antigens .]
asthma symptoms measurement	EFO_0010049	[Quantification of some aspect of asthma symptoms.]
hereditary gingival fibromatosis	MONDO_0016070	[Hereditary gingival fibromatosis (HGF) is a rare benign, slowly progressive, non-inflammatory fibrous hyperplasia of the maxillary and mandibular gingivae that generally occurs with the eruption of the permanent (or more rarely the primary) dentition or even at birth. It presents as a localized or generalized, smooth or nodular overgrowth of the gingival tissues of varying severity. It can be isolated, with autosomal dominant inheritance, or as part of a syndrome.]
gingival overgrowth	MONDO_0002507	[Excessive growth of the gingiva either by an increase in the size of the constituent cells (gingival hypertrophy) or by an increase in their number (gingival hyperplasia). (From Jablonski's Dictionary of Dentistry, 1992, p574)]
juvenile hyaline fibromatosis	MONDO_0016071	[Juvenile hyaline fibromatosis (JHF) is a rare soft tissue tumor, characterized by papulo-nodular skin lesions (especially around the head and neck), soft tissue masses, gingival hypertrophy, joint contractures, and osteolytic bone lesions in variable degrees. Joint contractures may cripple patients and delay normal motor development if occuring in infancy. Severe gingival hyperplasia can interfere with eating and delay dentition. Histopathology analysis of involved tissues reveals cords of spindle-shaped cells embedded in an amorphous, hyaline material. JHF is a mild form of infantile systemic hyalinosis.]
assay by Fluidigm C1 microfluidics platform	EFO_0010047	[An assay which uses the Fluidigm C1 for single-cell RNA-Seq and DNA-Seq library preparation]
anomaly of puberty or/and menstrual cycle of genetic origin	MONDO_0016072	[An instance of anomaly of puberty or/and menstrual cycle that is caused by a modification of the individual's genome.]
Fluidigm C1-based dissociation	EFO_0010048	[Dissociation of a sample into individual cells using the Fluidigm C1 platform. Cells are captured on the C1 system (Fluidigm) and processed using the SMARTer chemistry (Clontech) according to the Fluidigm protocol]
microphthalmia	EFO_0005569	[Congenital or developmental anomaly in which the eyeballs are abnormally small., An eye disease where one or both eyeballs are abnormally small.]
triacylglycerol 44:1	CHEBI_90297	[A triglyceride in which the three acyl groups contain a total of 44 carbons and 1 double bond.]