Disease browser and phenotype portal

Hello! Guest! Please Login or Register! Clinician Mode

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: Mouth Diseases (D009059)
Parent Node: Paralysis (D010243)
..Starting node ..Facial Paralysis (D005158)
Child Nodes:
........Aortic Arch Interruption, Facial Palsy, and Retinal Coloboma (C566271)
........Cayler cardiofacial syndrome (C535349)
........Facial Palsy, Congenital, Unilateral Or Bilateral (C563309)
........Facial Palsy, Familial Recurrent Peripheral (C565028)
........Facial paresis, hereditary, congenital (C536386)
........Foix Chavany Marie syndrome (C537069)
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:	4085
Name:	Facial Paralysis
Definition:	Severe or complete loss of facial muscle motor function. This condition may result from central or peripheral lesions. Damage to CNS motor pathways from the cerebral cortex to the facial nuclei in the pons leads to facial weakness that generally spares the forehead muscles. FACIAL NERVE DISEASES generally results in generalized hemifacial weakness. NEUROMUSCULAR JUNCTION DISEASES and MUSCULAR DISEASES may also cause facial paralysis or paresis.
Alternative IDs:
ParentIDs:	MESH:D009059\|MESH:D010243
TreeNumbers:	C07.465.327 \|C10.597.622.214 \|C23.888.592.636.214
Synonyms:	Central Facial Paralyses \|Central Facial Paralysis \|Facial Palsies \|Facial Palsy \|Facial Palsy, Lower Motor Neuron \|Facial Palsy, Upper Motor Neuron \|Facial Paralyses, Central \|Facial Paralyses, Peripheral \|Facial Paralysis, Central \|Facial Paralysis, Peripheral \|
Slim Mappings:	Mouth disease\|Nervous system disease\|Signs and symptoms
Reference:	MedGen: D005158 MeSH: D005158 OMIM: Genes:
Phenotypes
Disease Causing ClinVar Variants