Terminology Service < Semantic Lookup Platform

All terms in EFO

Label	Id	Description
White sponge nevus	Orphanet_171723	[Any hereditary mucosal leukokeratosis in which the cause of the disease is a mutation in the KRT4 gene.]
factor VII deficiency	MONDO_0002244	[A coagulation disorder characterized by the partial or complete absence of factor VII activity in the blood.]
perichondritis of auricle	MONDO_0002246	[An otitis externa involving infection of the tissue surrounding the cartilage of the earlobe (pinna), ear canal, or both. It may be caused by injury, burns, insect bites, ear piercing, or a boil on the ear. The common bacterial causative agent is Pseudomonas aeruginosa. Symptoms include redness, pain, fever, swelling of the earlobe and pus accumulation between the cartilage and the layer of connective tissue around it.]
factor X deficiency	MONDO_0002247	[A coagulation disorder characterized by the partial or complete absence of factor X activity in the blood.]
obsolete_neutrophil immunodeficiency syndrome	Orphanet_183707
felodipine	CHEBI_585948
reticulate acropigmentation of Kitamura	MONDO_0014234	[A pigmentation disease characterized by lesions that initially arise as letiginous, hyperpigmented macules in a reticular pattern on the dorsal aspect of the hands and feet. Over time, lesions may spread proximally and may darken; palmoplantar pitting and dermatoglyphic disruption may also be present.]
obsolete_familial restrictive cardiomyopathy	Orphanet_217635
severe intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndrome	MONDO_0014238
partial deletion of the short arm of chromosome 10	MONDO_0016892
Lysosomal disease with restrictive cardiomyopathy	Orphanet_217638
ankylosis	MONDO_0002257	[Fixation and immobility of a joint.]
spondylosis	MONDO_0002253	[A degenerative spinal disease that can involve any part of the vertebra, the intervertebral disk, and the surrounding soft tissue.]
disease of bone structure	MONDO_0000836
has a syndromic presentation	MONDO_0021127	[An characteristic of a disease in which the disease is not manifested as an isolated feature but has multiple distinct features.]
obsolete_pyogenic bacterial infections due to MyD88 deficiency	Orphanet_183713
autism spectrum disorder - epilepsy - arthrogryposis syndrome	MONDO_0014248	[SLC35A3-CDG is a form of congenital disorders of N-linked glycosylation characterized by distal arthrogryposis (mild flexion contractures of the fingers, deviation of the distal phalanges, swan-neck deformity), retromicrognathia, general muscle hypotonia, delayed psychomotor development, autism spectrum disorder (speech delay, abnormal use of speech, difficulties in initiating, understanding and maintaining social interaction, limited non-verbal communication and repetitive behavior), seizures, microcephaly and mild to moderate intellectual disability that becomes apparent with age. The disease is caused by mutations in the gene SLC35A3 (1p21).]
familial episodic pain syndrome with predominantly lower limb involvement	MONDO_0014247	[A rare, autosomal dominant disorder caused by mutation in the SCN11A gene. It is characterized by intense episodic pain mainly affecting the distal lower extremities in early childhood. The pain diminishes with age.]
bacterial meningitis caused by gram-negative bacteria	MONDO_0041825
Lactobacillus casei str. Zhang	NCBITaxon_498216