Terminology Service < Semantic Lookup Platform

All terms in EFO

Label	Id	Description
mitochondrial DNA deletion syndrome with progressive myopathy	MONDO_0014062
progressive external ophthalmoplegia with mitochondrial DNA deletions	MONDO_0000090
Steel syndrome	MONDO_0014061	[A rare genetic bone disease characterized by short stature, bilateral congenital hip dislocation, radial head dislocation, carpal coalition, scoliosis, pes cavus, and atlantoaxial subluxation. Dysmorphic facial features include broad forehead, broad nasal bridge, hypertelorism, and mild midface hypoplasia. Association with bilateral sensorineural hearing loss has also been described.]
short ulna-dysmorphism-hypotonia-intellectual disability syndrome	MONDO_0014067
Cerebral white matter hypoplasia	HP_0012430	[Underdevelopment of the cerebral white matter.]
progressive retinal dystrophy due to retinol transport defect	MONDO_0014060
cellular response to pH	GO_0071467	[ Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a pH stimulus. ]
cellular response to abiotic stimulus	GO_0071214	[ Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of an abiotic (non-living) stimulus. ]
peritoneum cancer	MONDO_0002087	[A malignant neoplasm involving the peritoneum]
retinal vascular occlusion	MONDO_0002089	[An occlusion of the retinal vasculature.]
vascular occlusion disorder	MONDO_0020672	[A disorder characterized by occlusion of blood vessels. It differs from thrombosis in that it can be used to describe any form of blockage, not just one formed by a clot.]
Human herpesvirus 8	NCBITaxon_37296
obsolete_hereditary breast and ovarian cancer	EFO_0002611
Richter syndrome	MONDO_0002083	[Transformation of chronic lymphocytic leukemia into aggressive non-Hodgkin's lymphoma, usually diffuse large B-cell lymphoma (immunoblastic or centroblastic variant). Occasional cases of transformation to Hodgkin's lymphoma have also been described, particularly in patients treated with purine nucleotide analogues. Molecular genetic studies suggest that in approximately half of the cases, the lymphoma is clonally related to the underlying chronic lymphocytic leukemia, whereas in the remaining cases the lymphoma probably represents a secondary, unrelated neoplasm.]
insulin resistance	EFO_0002614	[diminished effectiveness of insulin in lowering plasma glucose levels]
iatrogenic Kaposi's sarcoma	EFO_0002613	[A Kaposi sarcoma that develops after organ transplantation or immunosuppressive treatment.]
Webbed neck	HP_0000465	[Pterygium colli is a congenital skin fold that runs along the sides of the neck down to the shoulders. It involves an ectopic fibrotic facial band superficial to the trapezius muscle. Excess hair-bearing skin is also present and extends down the cervical region well beyond the normal hairline.]
Abnormality of the neck	HP_0000464	[An abnormality of the neck.]
amnioserosa anlage in statu nascendi	FBbt_00005422	[Anlage in statu nascendi of the amnioserosa in a stage 5 embryo that will give rise to the amnioserosa anlage.]
hindgut anlage in statu nascendi	FBbt_00005424	[Anlage in statu nascendi of the hindgut in a stage 5 embryo that will give rise to the hindgut anlage.]