Terminology Service < Semantic Lookup Platform

All terms in EFO

Label	Id	Description
obsolete_Xq27.3q28 duplication syndrome	Orphanet_261483	[Xq27.3q28 duplication syndrome is a recently described syndrome characterized by short stature, hypogonadism, developmental delay and facial dysmorphism.]
GM15386	CLO_0026786	[CYTOCHROME P450, SUBFAMILY IIC, POLYPEPTIDE 9; CYP2C9 DNA POLYMORPHISM DISCOVERY RESOURCE COLLECTION]
Lessel-Kubisch syndrome	EFO_0010632	[An autosomal recessive progeroid syndrome characterized by short stature, pinched facial features, prematurely gray hair, scleroderma-like skin changes, small kidneys and consecutive kidney failure, followed by severe arterial hypertension.]
progeroid syndrome	MONDO_0015333	[A group of rare genetic disorders which mimic physiological aging, making affected individuals appear to be older than they are.]
pregnancy test	EFO_0009643	[Any examination performed to assess if a female is gravid. [def-source: NCI]]
medical procedure	EFO_0002571	[An activity that produces an effect, or that is intended to alter the course of a disease in a patient or population. This is a general term that encompasses the medical, social, behavioral, and environmental acts that can have preventive, therapeutic, or palliative effects.]
predisposition to invasive fungal disease due to CARD9 deficiency	MONDO_0008905
chronic mucocutaneous candidiasis	MONDO_0015279
neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy	EFO_0009644	[Stephen et al. (2018) reported 2 brothers, born of unrelated parents of Indian descent, with NDMSCA. The elder brother was born with microcephaly (-6 SD), small anterior fontanel, prominent sutural ridging, and weak cry. He developed seizures in the first month of life and did not acquire any developmental milestones. Brain imaging at 4 months of age showed diffuse cerebral atrophy with thinning of the corpus callosum, and ophthalmologic examination showed myopic astigmatism. He died at age 1 year due to a severe respiratory infection. The proband was a 3-year-old boy with global developmental delay, progressive microcephaly (-9 SD), no head control, no speech, and generalized hypotonia with contractures of the ankles and fingers. He developed refractory seizures at 2 months of age. He also had swallowing difficulties and was tube-fed. Both patients had dysmorphic facial features, including low-set ears, long eyelashes, sloping forehead, micrognathia, and short nose with flat nasal bridge. Brain imaging showed progressive cerebral and cerebellar atrophy, decreased white matter, subcortical white matter hyperintensities, and thinning of corpus callosum. Karyotype analysis showed increased chromosomal breakage.]
Siddiqi syndrome	EFO_0010633	[An autosomal recessive disorder characterized by early-onset progressive sensorineural hearing impairment, global developmental delay, regression of motor skills, dystonia, and low body mass index. Some patients have an ichthosis-like appearance of the skin and signs of sensory neuropathy.]
neurodevelopmental disorder with or without anomalies of the brain, eye, or heart	EFO_0009645	[Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart is an autosomal dominant syndrome characterized by onset in infancy of developmental delay, intellectual disability, and behavioral disorders, such as autism spectrum disorders. About half of patients have additional abnormalities, most commonly involving the eye, heart, and genitourinary system. The phenotype is reminiscent of that observed in patients with 1p36 deletion syndrome (607872); RERE is located in the proximal 1p36 critical region (summary by Fregeau et al., 2016).]
intellectual developmental disorder with nasal speech, dysmorphic facies, and variable skeletal anomalies	EFO_0010630	[An autosomal dominant disorder characterized by delayed development, speech delay with nasal speech, and characteristic facial features including upslanted palpebral fissures, anteverted nares, a thin upper lip, and micrognathia. Some patients may have skeletal anomalies, such as brachydactyly, toe syndactyly and flat feet.]
lung cancer	MONDO_0008903	[A malignant neoplasm involving the lung.]
respiratory system cancer	MONDO_0000376	[A malignant neoplasm involving the respiratory system]
lung neoplasm	MONDO_0021117	[A benign or malignant, primary or metastatic neoplasm involving the lungs. Representative examples of benign neoplasms include adenoma, papilloma, chondroma, and endobronchial lipoma. Representative examples of malignant neoplasms include carcinoma, carcinoid tumor, sarcoma, and lymphoma.]
thoracic cancer	MONDO_0003274	[A primary or metastatic malignant neoplasm affecting the tissues of the thorax.]
neurodevelopmental disorder with microcephaly, arthrogryposis, and structural brain anomalies	EFO_0010631	[An autosomal recessive disorder characterized by severe global developmental delay, severely impaired intellectual development with poor or absent speech, severe encephalopathy, microcephaly with simplified gyral pattern, hypomyelination, thin corpus callosum, mild cerebellar hypoplasia, brainstem hypoplasia, congenital arthrogryposis, dysmorphic features, and respiratory problems often leading to early demise.]
macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss	EFO_0009646	[Macrothrombocytopenia and granulocyte inclusions that may present with or without both nephritis or senorineural hearing loss., An inherited giant platelet disorder with a complex phenotype characterized by congenital thrombocytopenia and possible subsequent manifestations of sensorineural hearing loss, presenile cataracts, elevation of liver enzymes, and/or progressive nephropathy often leading to end-stage renal disease (ESRD). Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly and Sebastian syndrome, previously described as distinct disorders, represent some of the different clinical presentations of MYH9-RD.]
syndromic constitutional thrombocytopenia	MONDO_0018795
primary glomerular disease	MONDO_0015163