Terminology Service < Semantic Lookup Platform

All terms in EFO

Label	Id	Description
pure mitochondrial myopathy	MONDO_0016807	[Pure mitochondrial myopathy is a rare mitochondrial disease characterized by exclusive skeletal muscle involvement, without clinical evidence of other organ involvement, manifesting with progressive limb weakness, proximal limb muscle atrophy, and eye muscle anomalies (e.g. ocular motility restriction, ptosis). Patients may present with lactic acidosis, diffuse myalgia and overall fatigability (particularly during/after physical activities), dysphagia, and diminished deep tendon reflexes.]
arachidonic acid	CHEBI_15843
infantile myofibromatosis	MONDO_0016824	[A benign, multifocal, nodular and well-circumscribed neoplasm usually seen as a congenital neoplasm or in the first year of life. It is characterized by a biphasic growth pattern and is composed of small, undifferentiated mesenchymal cells associated with branching thin-walled vessels and more mature neoplastic spindle cells with abundant eosinophilic cytoplasm in a collagenous stroma.]
mitochondrial myopathy-lactic acidosis-deafness syndrome	MONDO_0016825	[Mitochondrial myopathy-lactic acidosis-deafness is a type of metabolic myopathy described only in two sisters to date, presenting during childhood, and characterized clinically by growth failure, severe muscle weakness, and moderate sensorineural deafness and biochemically by metabolic acidosis, elevated serum pyruvate concentration, hyperalaninemia and hyperalaninuria. There have been no further descriptions in the literature since 1973.]
methylmalonic aciduria and homocystinuria	MONDO_0016826	[An inborn error of vitamin B12 (cobalamin) metabolism characterized by megaloblastic anemia, lethargy, failure to thrive, developmental delay, intellectual deficit and seizures. There are four complementation classes of cobalamin defects (cblC, cblD, cblF and cblJ) that are responsible for methylmalonic acidemia - homocystinuria (methylmalonic acidemia - homocystinuria cblC, cblD cblF and cblJ).]
obsolete_monosomy X	Orphanet_99226
shoulder and girdle defects-familial intellectual disability syndrome	MONDO_0016821
obsolete_mosaic monosomy X	Orphanet_99228
Cortical pulverulent cataract	HP_0007780	[A type of cataract characterized by punctate, dust-like opacities within the cortical region of the lens.]
5-HIAA	CHEBI_27823	[A member of the class of indole-3-acetic acids that is indole-3-acetic acid substituted by a hydroxy group at C-5 and a serotonin metabolite.]
senile cataract	MONDO_0004847	[A cataract with no obvious cause occurring in persons over 50 years old.]
Aspergillus multicolor	NCBITaxon_41759
Leigh syndrome with nephrotic syndrome	MONDO_0016816
Meier-Gorlin syndrome	MONDO_0016817	[Ear-patella-short stature syndrome is an association of malformations including bilateral microtia (severe hypoplasia of ear pinnae), absent patellae, short stature, poor weight gain, and characteristic facial features such as high forehead, micrognathism with full lips and small mouth, and accentuated nasolabial folds (smile wrinkles linking the nostrils to the labial commissure).]
patellar dysostosis	MONDO_0019712
Mikati-Najjar-Sahli syndrome	MONDO_0016818	[Mikati-Najjar-Sahli syndrome is characterized by microcephaly, hypergonadotropic hypogonadism, short stature and facial dysmorphism (a narrow forehead, hypertrophy and fusion of the eyebrows, micrognathia and pinnae abnormalities).]
Moebius syndrome-axonal neuropathy-hypogonadotropic hypogonadism syndrome	MONDO_0016819	[This syndrome is characterized by the association of MC6bius syndrome (congenital facial palsy with impaired ocular abduction) with peripheral axonal neuropathy and hypogonadotropic hypogonadism.]
16p11.2p12.2 microduplication syndrome	MONDO_0016834	[16p11.2p12.2 microduplication syndrome is a rare chromosomal anomaly syndrome resulting from the partial duplication of the short arm of chromosome 16 with a highly variable phenotype typically characterized by developmental/psychomotor delay (particularly of speech), intellectual disability, autism spectrum disorder and/or obsessive and repetitive behaviour, behavioural problems (such as aggression and outbursts), dysmorphic facial features (triangular face, deep set eyes, broad and prominent nasal bridge, upslanting or narrow palpebral features, hypertelorism). Additionally, finger/hand anomalies, short stature, microcephaly and slender build are frequently described.]
14q11.2 microduplication syndrome	MONDO_0016835	[14q11.2 microduplication syndrome is a rare chromosomal anomaly characterized by developmental delay, mild to severe intellectual disability with speech impairment and epilepsy. Additionally, it may include dysmorphic features (such as hypo- or hypertelorism, dysplastic ears, short palpebral fissures), microcephaly or macrocephaly, behavioral abnormalities, stereotyped hand movements, ataxia, hypotonia, cleft palate.]
16p13.11 microdeletion syndrome	MONDO_0016836	[16p13.11 microdeletion syndrome is a recently described syndrome characterized by developmental delay, microcephaly, epilepsy, short stature, facial dysmorphism and behavioral problems.]