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Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

Disease Browser
Parent Node: Paralysis (D010243)
..Starting node ..Quadriplegia (D011782)
Child Nodes:
........Absent Eyebrows and Eyelashes with Mental Retardation (C563111)
........Microcephaly with spastic quadriplegia (C537546)
........Opticocochleodentate Degeneration (C563002)
........Spastic Quadriplegia, Retinitis Pigmentosa, and Mental Retardation (C564808)
Sister Nodes:
..Facial Paralysis (D005158) 6
..Gastroparesis (D018589)
..Hemiplegia (D006429) 1
..Ophthalmoplegia (D009886) 41
..Paraplegia (D010264) 14
..Pseudobulbar Palsy (D020828) 1
..Quadriplegia (D011782) 4
..Respiratory Paralysis (D012133)
..Vocal Cord Paralysis (D014826) 6
..Wells Jankovic syndrome (C536692)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:	9558
Name:	Quadriplegia
Definition:	Severe or complete loss of motor function in all four limbs which may result from BRAIN DISEASES; SPINAL CORD DISEASES; PERIPHERAL NERVOUS SYSTEM DISEASES; NEUROMUSCULAR DISEASES; or rarely MUSCULAR DISEASES. The locked-in syndrome is characterized by quadriplegia in combination with cranial muscle paralysis. Consciousness is spared and the only retained voluntary motor activity may be limited eye movements. This condition is usually caused by a lesion in the upper BRAIN STEM which injures the descending cortico-spinal and cortico-bulbar tracts.
Alternative IDs:
ParentIDs:	MESH:D010243
TreeNumbers:	C10.597.622.760 \|C23.888.592.636.786
Synonyms:	Flaccid Quadriplegia \|Flaccid Quadriplegias \|Flaccid Tetraplegia \|Flaccid Tetraplegias \|Locked In Syndrome \|Locked-In Syndrome \|Locked-In Syndromes \|Paralysis, Spinal, Quadriplegic \|Quadripareses \|Quadriparesis \|Quadriplegia, Flaccid \|Quadriplegias \|Quadriplegias, F
Slim Mappings:	Nervous system disease\|Signs and symptoms
Reference:	MedGen: D011782 MeSH: D011782 OMIM: Genes:
Phenotypes
Disease Causing ClinVar Variants