Terminology Service < Semantic Lookup Platform

All terms in EFO

Label	Id	Description
Macrothrombocytopenia	HP_0040185
Thrombocytopenia	HP_0001873	[A reduction in the number of circulating thrombocytes.]
otolith organ	UBERON_0002518	[The crystalline particles composed of calcium carbonate and a protein which adhere to the gelatinous membrane of the maculae of the utricle and saccule (otolithic membrane).]
obsolete_familial clubfoot due to 5q31 microdeletion	Orphanet_293144
RAS-associated autoimmune leukoproliferative disease	Orphanet_268114	[RAS-associated autoimmune leukoproliferative disease (RALD) is a rare genetic disorder characterized by monocytosis, autoimmune cytopenias, lymphoproliferation, hepatosplenomegaly, and hypergammaglobulinemia.]
Escherichia fergusonii	NCBITaxon_564
2-3 toe cutaneous syndactyly	HP_0005709
Escherichia coli	NCBITaxon_562
obsolete_classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, salt wasting form	Orphanet_315306
obsolete_transient neonatal multiple acyl-CoA dehydrogenase deficiency	Orphanet_329942
environmental samples	NCBITaxon_33858
obsolete_keratinopathic ichthyosis	Orphanet_281103
obsolete_classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, simple virilizing form	Orphanet_315311
Autosomal dominant Charcot-Marie-Tooth disease type 2C	Orphanet_99937	[Autosomal dominant Charcot-Marie-Tooth disease type 2C (CMT2C) is a form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy, characterized by the association of vocal cord anomalies, impairment of respiratory muscles and sensorineural hearing loss with the distal hands and feet weakness. Onset is between infancy and the 6th decade.]
Klebsiella pneumoniae	NCBITaxon_573
Autosomal dominant Charcot-Marie-Tooth disease type 2B	Orphanet_99936	[Autosomal dominant Charcot-Marie-Tooth disease type 2B (CMT2B) is a severe form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy. CMT2B onset, in the 2nd or 3rd decade, is characterized by ulcerations and infections of feet. Symmetric and distal weakness develops mostly in the legs together with a severe symmetric distal sensory loss, tendon reflexes are only reduced at ankles and foot deformities, including pes cavus or planus and hammer toes, appear in childhood.]
Autosomal dominant Charcot-Marie-Tooth disease type 2E	Orphanet_99939	[Autosomal dominant Charcot-Marie-Tooth disease type 2E (CMT2E) is a form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy. CMT2E onset is in the first to 6th decade with a gait anomaly and a leg weakness that reaches the arms secondarily. Tendon reflexes are reduced or absent and, after years, all patients have a pes cavus. Other signs may be present, including hearing loss and postural tremor.]
Autosomal dominant Charcot-Marie-Tooth disease type 2D	Orphanet_99938	[Autosomal dominant Charcot-Marie-Tooth disease type 2D (CMT2D) is a form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy, characterized by distal weakness primarily and predominantly occurring in the upper limbs and tendon reflexes absent or reduced in the arms and decreased in the legs. Progression is slow.]
Autosomal dominant Charcot-Marie-Tooth disease type 2F	Orphanet_99940	[Autosomal dominant Charcot-Marie-Tooth disease type 2F (CMT2F) is a form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy. CMT2F is characterized by symmetric weakness primarily occurring in the lower limbs (distal muscles in a majority of cases) and reaching the arms only after 5 to 10 years, occasional and predominantly distal sensory loss and reduced tendon reflexes. CMT2F presents with gait anomaly between the 1st and 6th decade and early onset is generally associated to a more severe phenotype which may include foot drop.]
obsolete_C3 glomerulonephritis	Orphanet_329931