Terminology Service < Semantic Lookup Platform

All terms in EFO

Label	Id	Description
obsolete_paternal uniparental disomy of chromosome X	Orphanet_261524
tricho-retino-dento-digital syndrome	MONDO_0008622	[Tricho-retino-dento-digital syndrome is an autosomal dominant ectodermal dysplasia syndrome, characterized by uncombable hair syndrome, congenital hypotrichosis and dental abnormalities such as oligodontia or hyperdontia, and associated with early-onset cataract, retinal pigmentary dystrophy, and brachydactyly with brachymetacarpia. Furthermore, hyperactivity and a mild intellectual deficit have been reported in affected patients.]
uncombable hair syndrome	MONDO_0008621	[Uncombable hair syndrome (UHS), or pili trianguli et canaliculi, is a rare scalp hair shaft dysplasia.]
isolated genetic hair shaft abnormality	MONDO_0019281
upper limb mesomelic dysplasia	MONDO_0008620	[This syndrome is an isolated upper limb mesomelic dysplasia. It has been described in four patients from two unrelated families (a man and his daughter, and a Lebanese man and his son). Patients present with ulnar hypoplasia with severe radial bowing, but normal stature. The mode of transmission is likely to be autosomal dominant with variable expressivity.]
Cerebral ischemia	HP_0002637
Abnormal cardiovascular system physiology	HP_0011025	[Abnormal functionality of the cardiovascular system.]
autosomal dominant retinitis pigmentosa	EFO_0020028	[Autosomal dominant retinitis pigmentosa (RP) is an autosomally dominant inherited retinal dystrophy leading to progressive loss of the photoreceptors and retinal pigment epithelium and resulting in blindness usually after several decades.]
autosomal recessive cone rod dystrophy	EFO_0020029	[autosomal cone rod dystrophy is an autosomally recessive inherited retinal dystrophy that belongs to the group of pigmentary retinopathies.]
X-15728 measurement	EFO_0020024	[Quantification of X-15728 levels in a sample.]
central hypoventilation syndrome, late-onset	EFO_0020025	[A rare disease due to a severely impaired central autonomic control of breathing and dysfunction of the autonomous nervous system.]
autosomal recessive retinitis pigmentosa	EFO_0020026	[Autosomal recessive retinitis pigmentosa (RP) is an autosomally recessive inherited retinal dystrophy leading to progressive loss of the photoreceptors and retinal pigment epithelium and resulting in blindness usually after several decades.]
susceptibility to partial acquired lipodystrophy	EFO_0020027	[Acquired partial lipodystrophy is characterized clinically by the gradual onset of bilaterally symmetrical loss of subcutaneous fat from the face, neck, upper extremities, thorax, and abdomen, in the 'cephalocaudal' sequence, sparing the lower extremities (summary by Misra et al., 2004). The disorder is not inherited in a classic mendelian pattern; it rather represents a phenotype with a complex etiology. Affected individuals may have genetic susceptibility factors that require the additional presence of environmental factors or acquired disorders to be expressed (summary by Hegele et al., 2006). Most cases are sporadic, family history is negative, and females are more often affected than males (ratio, 4:1).]
succinylcarnitine measurement	EFO_0020020	[Quantification of succinylcarnitine levels in a sample.]
N-acetyltyrosine measurement	EFO_0020021	[Quantification of N-acetyltyrosine levels in a sample.]
N-acetylneuraminate measurement	EFO_0020022	[Quantification of N-acetylneuraminate levels in a sample.]
N-acetyltaurine measurement	EFO_0020023	[Quantification of N-acetyltaurine levels in a sample.]
Campylobacter jejuni subsp. jejuni NCTC 11168	NCBITaxon_192222
myelosuppression	EFO_0007053	[Myelosuppression or bone marrow suppression is a condition in which bone marrow activity is decreased, resulting in fewer red blood cells, white blood cells, and platelets. Myelosuppression is a side effect of some cancer treatments. When myelosuppression is severe, it is called myeloablation.]
antisocial behaviour measurement	EFO_0007052	[quantification of some aspect of adult antisocial behaviour (AAB), a form of disordered behaviour that is moderately heritable, relatively common and has adverse consequences for individuals and society. AAB is generally measured via questionnaires and psychological assessments, e.g. using a count of the number of Antisocial Personality Disorder criteria endorsed under criterion A from the Diagnostic and Statistical Manual of Mental Disorders, 4th Edition (DSM-IV)]