Terminology Service < Semantic Lookup Platform

All terms in EFO

Label	Id	Description
Colorectal Squamous Cell Carcinoma	EFO_1000198	[A very rare colorectal carcinoma characterized by the presence of a malignant squamous cell infiltrate.]
squamous cell carcinoma of rectum	MONDO_0018515	[A very rare rectal carcinoma characterized by the presence of a malignant squamous cell infiltrate.]
rectal carcinoma	MONDO_0044937	[A malignant epithelial neoplasm that arises from the rectum and invades through the muscularis mucosa into the submucosa. The vast majority are adenocarcinomas.]
Peroxisomal beta-oxidation disorder	Orphanet_79188
Disorder of peptide metabolism	Orphanet_79187
epithelial tumor of the appendix	MONDO_0018511	[A epithelial neoplasm that involves the vermiform appendix.]
appendiceal neoplasm	EFO_0003880	[A benign or malignant neoplasm involving the appendix., Tumors of the APPENDIX.]
epithelial tumor of colon	MONDO_0024479	[A epithelial neoplasm that involves the colon.]
Peroxisome biogenesis disorder-Zellweger syndrome spectrum	Orphanet_79189	[Peroxisome biogenesis disorders, Zellweger syndrome spectrum (PBD-ZSS) is a group of autosomal recessive disorders affecting the formation of functional peroxisomes, characterized by sensorineural hearing loss, pigmentary retinal degeneration, multiple organ dysfunction and psychomotor impairment, and is comprised of the phenotypic variants Zellweger syndrome (ZS), neonatal adrenoleukodystrophy (NALD) and infantile Refsum disease (IRD) (see these terms).]
Rare hereditary metabolic disease with peripheral neuropathy	Orphanet_207018
Rare metabolic liver disease	Orphanet_101940
Disorder of ketone body metabolism	Orphanet_79183
Disorder of fatty acid oxidation and ketone body metabolism	Orphanet_79174
Disorder of pentose phosphate metabolism	Orphanet_79186
Disorder of carbohydrate metabolism	Orphanet_79161
Disorder of ornithine or proline metabolism	Orphanet_79185
entorhinal cortex volume measurement	EFO_0010302	[Quantification of the volume of the entorhinal cortex.]
Linear IgA Dermatosis	EFO_0009313	[Autoimmune disease characterized by subepidermal blisters and linear deposition of autoantibodies at the dermoepidermal junction. The accumulated autoantibodies are of immunoglobulin A and occasionally immunoglobulin G classes against epidermal basement membrane proteins. The dermatosis is sometimes associated with malignancies and use of certain drugs (e.g., vancomycin). [ MeSH:D062027 ], Autoimmune disease characterized by subepidermal blisters and linear deposition of autoantibodies at the dermoepidermal junction. The accumulated autoantibodies are of immunoglobulin A and occasionally immunoglobulin G classes against epidermal basement membrane proteins. The dermatosis is sometimes associated with malignancies and use of certain drugs (e.g., vancomycin).]
autoimmune bullous skin disease	EFO_0008598	[Subepidermal autoimmune bullous diseases of the skin and mucosae comprise a large group of chronic diseases, including bullous pemphigoid, pemphigoid gestationis, mucous membrane pemphigoid, linear IgA bullous dermatosis, epidermolysis bullosa acquisita, and anti-p200 pemphigoid. These diseases are characterized by an antibody response toward structural components of the basement membrane zone, resulting in subepidermal blistering. [ PMID:29159697 ], An autoimmune disease characterized by blisters on the skin.]
Disorder of purine metabolism	Orphanet_79191