Terminology Service < Semantic Lookup Platform

All terms in EFO

Label	Id	Description
Midline defect of mandible	HP_0010753
NCI-H2279	EFO_0003120
age-related hearing impairment	EFO_0005782	[Age-related hearing impairment is characterized by a symmetric sensorineural hearing loss that is most pronounced in the high frequencies. Age of onset, progression, and severity of age-related hearing impairment (ARHI) show great variation in the population, but with a demonstrable increased prevalence in males.]
sensorineural hearing loss	EFO_1001176	[Hearing loss due to disease of the AUDITORY PATHWAYS (in the CENTRAL NERVOUS SYSTEM) which originate in the COCHLEAR NUCLEI of the PONS and then ascend bilaterally to the MIDBRAIN, the THALAMUS, and then the AUDITORY CORTEX in the TEMPORAL LOBE. Bilateral lesions of the auditory pathways are usually required to cause central hearing loss. Cortical deafness refers to loss of hearing due to bilateral auditory cortex lesions. Unilateral BRAIN STEM lesions involving the cochlear nuclei may result in unilateral hearing loss., Hearing loss in which the root cause lies in the inner ear or sensory organ (cochlea and associated structures) or the vestibulocochlear nerve (cranial nerve VIII).]
NCI-H3255	EFO_0003123
NUT midline carcinoma	EFO_0005783	[A rare, highly aggressive and lethal carcinoma that affects children and young adults. It arises from midline epithelial structures, most commonly the head, neck, and mediastinum. It is a poorly differentiated carcinoma and is characterized by mutations and rearrangement of the NUT gene. A balanced translocation t(15;19) is present that results in the creation of a fusion gene involving the NUT gene, most commonly BRD4-NUT fusion gene.]
NCI-H2287	EFO_0003122
rhabdomyosarcoma with mixed embryonal and alveolar features	MONDO_0002863	[A rhabdomyosarcoma composed of embryonic and alveolar components. It is characterized by the presence of spindle cells with myoblastic differentiation, a myxoid stroma, and fibrous septa. These tumors were previously considered variants of alveolar rhabdomyosarcoma. The lack of PAX3-FOXO1 fusions in most of these tumors suggests that are biologically and clinically related to embryonal rhabdomyosarcoma.]
NCI-H820	EFO_0003125
chorea, childhood-onset, with psychomotor retardation	MONDO_0014839
NCI-H520	EFO_0003124
HCC1159	EFO_0003127
HCC1171	EFO_0003126
Charcot-Marie-Tooth disease axonal type 2CC	MONDO_0014836	[Any Charcot-Marie-Tooth disease in which the cause of the disease is a mutation in the NEFH gene.]
HCC15	EFO_0003129
HCC1359	EFO_0003128
Fagus sylvatica	NCBITaxon_28930
Salmonella enterica subsp. enterica serovar Java	NCBITaxon_224729
autosomal dominant nonsyndromic hearing loss 70	MONDO_0014853	[Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the MCM2 gene.]
autosomal dominant nonsyndromic hearing loss	MONDO_0019587	[Autosomal dominant form of nonsyndromic deafness.]