Terminology Service < Semantic Lookup Platform

All terms in EFO

Label	Id	Description
Eucalyptus globulus	NCBITaxon_34317
desmoplastic infantile ganglioglioma	MONDO_0022965	[A WHO grade I large cystic tumor that occurs almost exclusively in infants, with a prominent desmoplastic stroma having a neuroepithelial population of neoplastic astrocytes together with a variable neuronal component. It involves the superficial cerebral cortex and leptomeninges, and often attaches to the dura. Although clinically it presents as a large tumor, it generally has a good prognosis following surgical resection. (Adapted from WHO)]
woolly hair nevus	MONDO_0019311	[Woolly hair nevus (WHN) is a rare non-familial hair anomaly characterized by kinky, tightly coiled, and hypopigmented fine hair with an average diameter of 0.5 cm, noted, since birth or during the first two years of life, in a localized circumscribed distribution on the scalp. Occassionally, WHN grows in areas observed to be alopecic in the neonatal period. WHN can be associated with features like ocular defects (persistent pupillary membrane, retinal defects), precocious puberty, and epidermal nevi.]
nevus, epidermal	MONDO_0008093	[A benign, pigmented skin growth caused by an overgrowth of the epidermis. It is typically seen at birth, but can develop in early childhood or later in life. Most cases are sporadic, but familial patterns of inheritance have been observed.]
obsolete_congenital sucrase-isomaltase deficiency with starch intolerance	Orphanet_306436
recessive dystrophic epidermolysis bullosa inversa	MONDO_0019310	[Recessive dystrophic epidermolysis bullosa inversa (RDEB-I) is rare subtype of dystrophic epidermolysis bullosa (DEB) characterized by blisters and erosions which are primarily confined to intertriginous skin sites, the base of the neck, the uppermost back, and the lumbosacral area.]
obsolete_SERKAL syndrome	Orphanet_139466
obsolete_microphthalmia with brain and digit anomalies	Orphanet_139471
blepharocheilodontic syndrome	MONDO_0007339	[An ectodermal dysplasia syndrome characterized by the association of abnormalities of the eyelids, lips, and teeth.]
cleft palate-lateral synechia syndrome	MONDO_0007337	[Cleft palate-lateral synechia syndrome (CPLS) is a congenital malformation syndrome characterized by the association of cleft palate and intra-oral lateral synechiae connecting the free borders of the palate and the floor of the mouth. CPLS is presumed to be inherited in an autosomal dominant manner.]
autosomal recessive Robinow syndrome	MONDO_0009999	[Autosomal recessive Robinow syndrome (RRS) is the less common type of Robinow syndrome (RS) characterized by short-limb dwarfism, costovertebral segmentation defects and abnormalities of the head, face and external genitalia.]
chloracne	EFO_1001777	[ACNE-like skin eruptions caused by exposure to CHLORINE-containing compounds. Exposure can be by inhalation, ingestion, or through the skin. Chloracne is often seen in people who have occupational contact with chlorinated pesticides, wood preservatives, and sealants.]
epidermolysis bullosa simplex 1D, generalized, intermediate or severe, autosomal recessive	MONDO_0010976	[A basal subtype of epidermolysis bullosa simplex EBS characterized by generalized or, less frequently, localized acral blistering.]
Richieri Costa-Pereira syndrome	MONDO_0009998	[Richieri Costa-Pereira syndrome is characterized by short stature, Robin sequence, cleft mandible, pre/postaxial hand anomalies (including hypoplastic thumbs), and clubfoot. It has been described in 14 Brazilian families and in one unrelated French patient. Prominent low set ears and a highly arched palate were also observed. Transmission is autosomal recessive.]
obsolete_autosomal dominant hereditary axonal motor and sensory neuropathy	Orphanet_140456
Chilaiditi Syndrome	EFO_1001776	[Interposition of a portion of the colon (e.g., SIGMOID COLON) between the liver and the diaphragm. It is associated with abdominal pain, vomiting, constipation, anorexia and volvulus. Chilaiditi anomaly refers to asymptomatic interposition.]
isolated cleft palate	MONDO_0007336	[A cleft palate that is not part of a larger syndrome.]
Roberts syndrome	MONDO_0009997	[Roberts syndrome (RBS) is characterized by pre- and postnatal growth retardation, severe symmetric limb reduction defects, craniofacial anomalies and severe intellectual deficit. SC phocomelia is a milder form of RBS.]
obsolete atypical chronic myeloid leukemia	MONDO_0020312
cerebrospinal fluid otorrhea	EFO_1001775	[Discharge of cerebrospinal fluid through the external auditory meatus or through the eustachian tube into the nasopharynx. This is usually associated with CRANIOCEREBRAL TRAUMA (e.g., SKULL FRACTURE involving the TEMPORAL BONE;), NEUROSURGICAL PROCEDURES; or other conditions, but may rarely occur spontaneously. (From Am J Otol 1995 Nov;16(6):765-71)]