Terminology Service < Semantic Lookup Platform

All terms in EFO

Label	Id	Description
Autosomal dominant Charcot-Marie-Tooth disease type 2I	Orphanet_99942	[Autosomal dominant Charcot-Marie-Tooth disease type 2I (CMT2I) is a form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy, characterized by a late onset with severe sensory loss (paresthesia and hypoesthesia) associated with distal weakness, mainly of the legs, and absent or reduced deep tendon reflexes.]
obsolete_Autosomal dominant Charcot-Marie-Tooth disease type 2G	Orphanet_99941	[Autosomal dominant Charcot-Marie-Tooth disease type 2G (CMT2G) is a form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy. CMT2G [has only been described in 1 familly and] onset is associated to development of foot deformity and walking difficulties between the 1st and the 8th decades, with a median range in the 2nd one. Weakness and sensory loss involve primarily the legs and ankles tendon reflexes are reduced. CMT2G has a slowly progressive course.]
obsolete_autosomal dominant Charcot-Marie-Tooth disease type 2K	Orphanet_99944
Autosomal dominant Charcot-Marie-Tooth disease type 2J	Orphanet_99943	[Autosomal dominant Charcot-Marie-Tooth disease type 2J (CMT2J) is a form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy, characterized by a relatively late onset, papillary abnormalities and deafness, in most patients, associated with distal weakness and muscle atrophy.]
Pantoea agglomerans	NCBITaxon_549
obsolete_distal monosomy 1q	Orphanet_36367
Autosomal dominant Charcot-Marie-Tooth disease type 2A1	Orphanet_99946	[Autosomal dominant Charcot-Marie-Tooth disease type 2A1 (CMT2A1) is a form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy. CMT2A presents with a more prominent muscle weakness in lower than upper limbs and frequent postural tremor.]
Zymomonas mobilis	NCBITaxon_542
Autosomal dominant Charcot-Marie-Tooth disease type 2L	Orphanet_99945	[Autosomal dominant Charcot-Marie-Tooth disease type 2L (CMT2L) is a form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy. In the single family reported to date, CMT2L onset is between 15 and 33 years. Patients present with a symmetric distal weakness of legs and occasionally of the hands, absent or reduced tendon reflexes, distal legs sensory loss and frequently a pes cavus. Progression is slow.]
obsolete_Charcot-Marie-Tooth disease type 4A	Orphanet_99948	[Charcot-Marie-Tooth disease, type 4A (CMT4A) is a severe, early-onset form of demyelinating CMT peripheral sensorimotor polyneuropathy characterized by severe motor retardation and progressive scoliosis.]
Autosomal dominant Charcot-Marie-Tooth disease type 2A2	Orphanet_99947
obsolete_Charcot-Marie-Tooth disease type 4C	Orphanet_99949	[Charcot-Marie-Tooth disease, type 4C (CMT4C) is a demyelinating CMT peripheral sensorimotor polyneuropathy with early-onset scoliosis or kyphoscoliosis.]
Citrobacter koseri	NCBITaxon_545
obsolete_Charcot-Marie-Tooth disease type 4E	Orphanet_99951
obsolete_Charcot-Marie-Tooth disease type 4D	Orphanet_99950	[Charcot-Marie-Tooth disease type 4D (CMT4D) is a severe form of Charcot-Marie-Tooth disease type 4 (see this term), a demyelinating hereditary motor and sensory neuropathy, characterized by gait disorder manifesting in the first decade of life, followed by upper limb involvement observed in the second decade , and sensorineural deafness usually manifesting in the second or third decade of life.]
posterior spiracle primordium	FBbt_00000197	[Primordium of the posterior spiracle of the larva. Originates in the posterior half of the lateral ectoderm of abdominal segment 8 during stage 12. A group of cells that are more basophilic that those surrounding them form a deep groove and fuse with the posterior arm of the tracheal primordium of A8 (tracheal metamere 10).]
obsolete_Charcot-Marie-Tooth disease type 4G	Orphanet_99953	[Charcot-Marie-Tooth disease, type 4G (CMT4G) is a demyelinating CMT peripheral sensorimotor polyneuropathy.]
obsolete_Charcot-Marie-Tooth disease type 4F	Orphanet_99952	[Charcot-Marie-Tooth disease, type 4F (CMT4F) is a demyelinating CMT peripheral sensorimotor polyneuropathy.]
obsolete_Congenital vertebral-cardiac-renal anomalies syndrome	Orphanet_521438
obsolete_Charcot-Marie-Tooth disease type 4B1	Orphanet_99955	[Charcot-Marie-Tooth disease, type 4B1 (CMT4B1) is a severe early-onset demyelinating CMT peripheral sensorimotor polyneuropathy.]