Terminology Service < Semantic Lookup Platform

All terms in EFO

Label	Id	Description
BT474	EFO_0001093
melanotic neurilemmoma	MONDO_0002558	[A rare circumscribed, non-encapsulated and grossly pigmented nerve sheath tumor. It is composed of cells with the immunophenotypic and electron microscopic features of Schwann cells which contain melanosomes and are positive for melanoma markers. It usually involves spinal nerve roots but may occur in other locations. It may be associated with PRKAR1A gene mutation and Carney complex. Malignant behavior has been reported in a significant number of patients.]
obsolete_paternal 14q32.2 hypomethylation syndrome	Orphanet_254531
BT483	EFO_0001095
46,XY disorder of sex development due to impaired androgen production	Orphanet_325357
BT549	EFO_0001096
C2C12	EFO_0001098
Caco-2	EFO_0001099
chronic atrial and intestinal dysrhythmia	MONDO_0014528	[A syndrome characterized by a unique combination of cardiac arrhythmias and intestinal pseudo-obstruction. It has material basis in the mutated SGOL1 protein. Distinctive clinical features include atrial dysrhythmias, sick sinus syndrome (SSS) and valve anomalies and chronic intestinal pseudo-obstruction (CIPO).]
obsolete_suprabasal epidermolysis bullosa simplex	Orphanet_158661
long QT syndrome 14	MONDO_0014548	[Any long QT syndrome in which the cause of the disease is a mutation in the CALM1 gene.]
familial long QT syndrome	MONDO_0019171	[A hereditary cardiac disease characterized by a prolongation of the QT interval at basal ECG and by a high risk of life-threatening arrhythmias.]
myopathy due to calsequestrin and SERCA1 protein overload	MONDO_0014546	[Myopathy due to calsequestrin and SERCA1 protein overload is characterised by mild myopathy or elevated levels of creatine kinase in the blood without associated symptoms.]
CE(14:1(9Z))	CHEBI_88758
obsolete_epidermolysis bullosa simplex due to plakophilin deficiency	Orphanet_158668
ear meristem	PO_0009109	[The meristem which gives rise to the female inflorescence or ear in maize.]
peeling skin syndrome type A	MONDO_0014555	[Peeling skin syndrome (PSS) type A is a non inflammatory form of generalized PSS, a type of ichthyosis, characterized by generalized white scaling and superficial painless peeling of the skin.]
generalized peeling skin syndrome	MONDO_0010033	[Generalized peeling skin syndrome (PSS) is a form of PSS presenting with a generalized distribution. It comprises two sub-types: the non-inflammatory (PSS type A) and the inflammatory (PSS type B) form. PSS type A is characterized by generalized white scaling with superficial peeling of the skin, while PSS type B is characterized by superficial patchy peeling of the entire skin with underlying erythroderma, associated with pruritus, and atopy.]
Rare genetic thyroid disease	Orphanet_183631
Tenorio syndrome	MONDO_0014553