Terminology Service < Semantic Lookup Platform

All terms in EFO

Label	Id	Description
global developmental delay-neuro-ophthalmological abnormalities-seizures-intellectual disability syndrome	MONDO_0024252
Precordial pain	HP_0032141	[A type of chest pain that arises in the or under the left breast and often described as throbbing, stabbing, or burning, and lasting hours or longer. The pain may arise with or after effort, and may spread to the left arm or left side of the neck.]
generalized epilepsy-paroxysmal dyskinesia syndrome	MONDO_0012276	[Generalized epilepsy-paroxysmal dyskinesia syndrome is characterised by the association of paroxysmal dyskinesia and generalised epilepsy (usually absence or generalised tonic-clonic seizures) in the same individual or family. The prevalence is unknown. Analysis in one of the reported families led to the identification of a causative mutation in the KCNMA1 gene (chromosome 10q22), encoding the alpha subunit of the BK channel. Transmission is autosomal dominant.]
myofibrillar myopathy 4	MONDO_0012277	[Late-onset distal myopathy, Markesbery-Griggs type is a rare, genetic, non-dystrophic myofibrillar myopathy disorder characterized by late-adult onset of distal and/or proximal limb muscle weakness with initial involvement of posterior lower leg muscles, medial gastrocnemius and soleus. Patients present with ankle weakness followed by weakness of finger and wrist extensors and later on of proximal muscles. Ambulation is usually preserved. Late-onset associated cardiomyopathy and/or neuropathy has been reported in a minority of cases.]
mesoaxial synostotic syndactyly with phalangeal reduction	MONDO_0012271	[Mesoaxial synostotic syndactyly (MSSD) with phalangeal reduction is a novel and distinct form of non-syndromic syndactyly including complete syndactyly of the 3rd and 4th fingers with synostoses of the corresponding metacarpals and associated single phalanges, syndactyly of the 2nd and 3rd toes and 5th finger clinodactyly.]
acromesomelic dysplasia 3	MONDO_0012274
ocimene	EFO_0003191
benign eccrine neoplasm	MONDO_0024247	[A non-metastasizing eccrine appendage sweat gland neoplasm. Representative examples include hidrocystoma, syringoma, and syringofibroadenoma.]
leptin	EFO_0003199
eccrine sweat gland cancer	EFO_0005553	[An cancer with eccrine differentiation arising from the sweat glands.B]
myofibrillar myopathy 5	MONDO_0012289	[Muscle filaminopathy is a rare myofibrillar myopathy characterized by slowly progressive, proximal skeletal muscle weakness, which is initially more prominent in lower extremities and involves upper extremities with disease progression. Patients present with difficulty climbing stairs, a waddling gait, marked winging of scapula, lower back pain, paresis of limb girdle musculature, hypo-/areflexia and/or mild facial muscle weakness in rare cases. Respiratory muscle weakness is common and cardiac anomalies (conduction blocks, tachycardia, diastolic dysfunction, left ventricular hypertrophy) have been reported in some cases.]
Proximal amyotrophy	HP_0007126	[Amyotrophy (muscular atrophy) affecting the proximal musculature.]
Al-Gazali syndrome	MONDO_0012282	[An autosomal recessive syndrome characterized by joint contractures, skeletal abnormalities, anterior segment anomalies of the eye and early lethality.]
Goldberg-Shprintzen megacolon syndrome	MONDO_0012280	[Goldberg-Shprintzen megacolon syndrome is a multiple malformation syndrome characterized by Hirschprung megacolon with microcephaly, hypertelorism, submucous cleft palate, short stature and learning disability.]
Pilonidal abscess	HP_0010771	[A hair-containing cyst or sinus usually in the coccygeal region.]
Cutaneous abscess	HP_0031292	[A circumscribed area of pus or necrotic debris in the skin.]
amebic dysentery	MONDO_0024275	[Dysentery caused by intestinal amebic infection, chiefly with entamoeba histolytica. This condition may be associated with amebic infection of the liver and other distant sites.]
protozoal dysentery	MONDO_0001955	[A dysentery that involves protozoan infection.]
CEDNIK syndrome	MONDO_0012290	[CEDNIK syndrome is a neurocutaneaous syndrome characterized by severe developmental abnormalities of the nervous system and aberrant differentiation of the epidermis.]
lipomyelomeningocele	MONDO_0012296	[Lipomyelomeningocele is a rare neural tube closure defect characterized by a subcutaneous lipoma that extends through a defect in the lumbodorsal fascia, vertebral neural arch, and dura. This painless lesion can occur anywhere along the spinal canal but usually is found in the sacral or lumbar region. If left untreated it can cause tethered cord syndrome.]