Terminology Service < Semantic Lookup Platform

All terms in EFO

Label	Id	Description
X-linked complex neurodevelopmental disorder	MONDO_0100148	[A complex neurodevelopmental disorder that is transmitted via X-linked inheritance, and is characterized by intellectual disability, autism and epilepsy.]
complex neurodevelopmental disorder	MONDO_0100038	[A disorder that involves more than one phenotype associated with the central nervous system, including but not limited to intellectual disability, autism, and seizures (epilepsy).]
Aspergillus carbonarius	NCBITaxon_40993
TPM3-related myopathy	MONDO_0100108	[TPM3-related myopathy is a disorder of the musculoskeletal system that covers a wide spectrum of phenotypes and is caused by pathogenic variants in the skeletal muscle γ-Tropomyosin gene. These variants lead to a variety of overlapping adult onset and congenital myopathies characterized by muscle weakness, hypotonia, motor delay, myopathic facies, scoliosis, and sometimes respiratory involvement. Histologic findings on skeletal muscle biopsy are variable with nemaline and intranuclear bodies, cap-like lesions, fiber-type disproportion, and dystrophic features even in patients with the same mutation.]
qualitative or quantitative defects of tropomyosin	MONDO_0017303
acyl-CoA binding domain containing protein 5 deficiency	MONDO_0100112	[A disorder of a single peroxisomal protein, acyl-CoA binding domain containing protein 5, which forms a contact site between the peroxisomes and the ER. The deficiency is characterized by elevated blood very long-chain fatty acids (VLCFAs), retinal dystrophy, cerebral white matter disease and psychomotor delay.]
disorder of peroxisomal beta oxidation	MONDO_0019233
dry age related macular degeneration	MONDO_0100114	[Dry age related macular degeneration is characterized by the presence of age-related deposits called drusen and atrophy.]
age-related macular degeneration	EFO_0001365	[Degenerative changes in the RETINA usually of older adults which results in a loss of vision in the center of the visual field (the MACULA LUTEA) because of damage to the retina. It occurs in dry and wet forms., Age-related loss of vision in the central portion of the retina (macula), secondary to retinal degeneration., Degenerative changes in the macula lutea of the retina.]
Middle East respiratory syndrome	MONDO_0100116	[A viral respiratory infection that is caused by the MERS coronavirus (MERS-CoV), which most often manifests with moderate to severe respiratory symptoms, including productive cough and shortness of breath, which can progress to pneumonia and acute respiratory distress syndrome.]
Orthocoronavirinae infectious disease	MONDO_0020753	[Infectious disease causes by viruses in the subfamily Orthocoronavirinae (coronaviruses). In humans, coronaviruses cause respiratory tract infections that can be mild, such as some cases of the common cold (among other possible causes, predominantly rhinoviruses), and others that can be lethal, such as SARS, MERS, and COVID-19.]
obsolete_autosomal dominant limb-girdle muscular dystrophy type 1G	Orphanet_55596
obsolete_autosomal dominant limb-girdle muscular dystrophy type 1F	Orphanet_55595
obsolete_DPM3-CDG	Orphanet_263494	[Congenital disorder of glycosylation type 1o (CDG-Io) is an extremely rare form of CDG syndrome (see this term) characterized clinically in the single reported case by muscle weakness, waddling gait, and dilated cardiomyopathy.]
Guanosine Monophosphate	OMIT_0007336
SCN4A-related myopathy, autosomal recessive	MONDO_0100121	[Any congenital myopathy in which the cause of the disease is a mutation in the SCN4A gene. It include is a spectrum of autosomal recessive disorders including congenital myasthenic syndrome, fetal hypokinesia, and congenital myopathy.]
craniosynostosis	MONDO_0015469	[Craniosynostosis is defined as the premature fusion of one or more cranial sutures leading to secondary distortion of skull shape resulting in skull deformities with a variable presentation. Craniosynostosis may occur in an isolated setting or as part of a syndrome.]
NAA10-related syndrome	MONDO_0100124	[NAA10-related syndrome is an X-linked syndromic intellectual disability in which the cause of the disease is a mutation in the NAA10 gene. Patients with variants in the NAA10 gene demonstrate symptoms such as developmental delay, intellectual disability, autism spectrum disorder, hypotonia, facial dysmorphism, cardiac anomalies, and/or skeletal anomalies.]
Crocosphaera watsonii WH 8501	NCBITaxon_165597
P5CS deficiency	MONDO_0100126	[An inborn error of proline/orinthine metabolism that covers a wide spectrum of phenotypes and is caused by pathogenic variants in the aldehyde dehydrogenase 18 family member A1 (ALDH18A1) gene. These variants lead to a variety of neurocutaneous and motor syndromes characterized by cutis laxa, connective tissue weakness, facial dysmorphism, growth restriction, developmental delay, cataracts, hypotonia, hypertonia, and amyotrophy.]