Terminology Service < Semantic Lookup Platform

All terms in EFO

Label	Id	Description
neurohypophysis	UBERON_0002198	[The posterior part of the pituitary gland that secretes hormones involved in blood pressure regulation such as oxytocin and antidiuretic hormon.]
obsolete_partial deletion of the short arm of chromosome 6	Orphanet_261902
AG11513	CLO_0022604	[LAMIN A/C; LMNA HUTCHINSON-GILFORD PROGERIA SYNDROME; HGPS]
choroideremia-deafness-obesity syndrome	MONDO_0010558	[Choroideremia-deafness-obesity syndrome is an X-linked retinal dystrophy characterized by choroideremia, causing in affected males progressive nyctalopia and eventual central blindness. Obesity, moderate intellectual disability and congenital mixed (sensorineural and conductive) deafness are also observed. Female carriers show typical retinal changes indicative of the choroideremia carrier state.]
choroideremia	MONDO_0010557	[Choroideremia (CHM) is an X-linked chorioretinal dystrophy characterized by progressive degeneration of the choroid, retinal pigment epithelium (RPE) and retina.]
Frank-Ter Haar syndrome	MONDO_0009579	[Frank-ter Haar syndrome (formerly considered as an autosomal recessive form of Melnick-Needles syndrome) is defined by megalocornea, multiple skeletal anomalies, characteristic facial dysmorphism (wide fontanels, prominent forehead, hypertelorism, prominent eyes, full cheeks and micrognathia) and developmental delay.]
neurocutaneous melanocytosis	MONDO_0009578	[Neurocutaneous melanocytosis (NCM) is a rare congenital neurological disorder characterized by abnormal aggregations of nevomelanocytes within the central nervous system (leptomeningeal melanocytosis) associated with large or giant congenital melanocytic nevi (CMN). NCM can be asymptomatic or present as variably severe and progressive neurological impairment, sometimes resulting in death.]
diffuse intrinsic pontine glioma	EFO_1000026	[A neuroglial tumor that arises from the middle portion of the brain stem. It usually affects children and has a poor prognosis.]
childhood brain stem glioma	MONDO_0003869	[An abnormal growth of the cells that comprise the tissues of the brainstem. While the tumor may be histologically benign, it can produce great morbidity due to its location. It presents most commonly in the first two decades of life.]
MASA syndrome	MONDO_0010559	[MASA syndrome (Mental retardation, Aphasia, Spastic paraplegia, Adducted thumbs) is a historical term used to describe a phenotype now considered to be part of the X-linked L1 clinical spectrum (L1 syndrome). MASA is characterized by mild to moderate intellectual deficit, delayed development of speech, hypotonia progressing to spasticity or spastic paraplegia, adducted thumbs, and mild to moderate distension of the cerebral ventricles.]
X-linked complex spastic paraplegia	MONDO_0020339
megalocornea-intellectual disability syndrome	MONDO_0009577	[Megalocornea-intellectual disability syndrome is a rare intellectual disability syndrome most commonly characterized by megalocornea, congenital hypotonia, varying degrees of intellectual disability, psychomotor/developmental delay, seizures, and mild facial dysmorphism (including round face, frontal bossing, antimongoloid slant of the eyes, epicanthal folds, large low set ears, broad nasal base, anteverted nostrils, and long upper lip). Interfamilial and intrafamilial clinical variability has been reported.]
chronic rhinosinusitis	EFO_1000024	[Chronic rhinosinusitis is a heterogeneous disease characterized by local inflammation of the upper airways and sinuses which persists for at least 12 weeks, Chronic form of sinusitis.]
thiamine-responsive megaloblastic anemia syndrome	MONDO_0009575	[Thiamine-responsive megaloblastic anemia (TRMA) is characterized by a triad of megaloblastic anemia, non-type I diabetes mellitus, and sensorineural deafness.]
pentamidine	CHEBI_45081
obsolete_cervical squamous cell carcinoma	EFO_1000022
blepharophimosis - intellectual disability syndrome, Ohdo type	MONDO_0009583	[Ohdo blepharophimosis syndrome (OBS) is a multiple congenital malformation syndrome characterized by blepharophimosis, ptosis, dental hypoplasia, hearing impairment and intellectual disability.]
occipital horn syndrome	MONDO_0010572	[Occipital horn syndrome (OHS) is a mild form of Menkes disease (MD), a syndrome characterized by progressive neurodegeneration and connective tissue disorders due to a copper transport defect.]
obsolete_severe neonatal-onset encephalopathy with microcephaly	Orphanet_209370
Mietens syndrome	MONDO_0009582	[Mietens syndrome is a very rare syndrome consisting of corneal opacity, nystagmus, strabismus, flexion contracture of the elbows with dislocation of the head of the radius and abnormally short ulnae and radii.]