Disease browser and phenotype portal

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MSeqDR-LSDB
Tools
- Quick-Mitome for WES
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- mtDNA Tool:
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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

Hearing Loss Disease Portal

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Most Common: Hearing Loss (D034381), Deafness (D003638), Sensorineural HL (D006319), Waardenburg Syndrome, Usher Syndromes

Disease Browser
Parent Node: Neurologic Manifestations (D009461)
..Starting node ..Reflex, Abnormal (D012021)
Child Nodes:
........Bahemuka Brown syndrome (C537797)
........CAPOS syndrome (C535351)
........External Ophthalmoplegia, Synergistic Divergence, Jaw Winking, and Oculocutaneous Hypopigmentation (C566509)
........Hyperekplexia and Epilepsy (C564474)
........Marcus Gunn phenomenon (C535908)
Sister Nodes:
..Cerebrospinal Fluid Leak (D065634) 2
..Decerebrate State (D003655)
..Diabetes Mellitus, Permanent Neonatal, With Neurologic Features (C563424)
..Dyskinesias (D020820) 199
..Gait Disorders, Neurologic (D020233) 2
..Meningism (D008580)
..Neurobehavioral Manifestations (D019954) 701
..Neurogenic Inflammation (D020078)
..Neuromuscular Manifestations (D020879) 103
..Orthostatic Intolerance (D054971) 8
..Pain (D010146) 55
..Paralysis (D010243) 83
..Paresis (D010291) 10
..Psychophysiologic Disorders (D011602)
..Pupil Disorders (D011681) 20
..Reflex, Abnormal (D012021) 5
..Seizures (D012640) 40
..Sensation Disorders (D012678) 478
..Sleep Disorders (D012893) 41
..Susac Syndrome (D055955)
..Urinary Bladder, Neurogenic (D001750)
..Vertigo (D014717) 5
..Voice Disorders (D014832) 7
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:

9630

Name:

Reflex, Abnormal

Definition:

An abnormal response to a stimulus applied to the sensory components of the nervous system. This may take the form of increased, decreased, or absent reflexes.

Alternative IDs:

OMIM:145290

ParentIDs:

MESH:D009461

TreeNumbers:

C10.597.704 |C23.888.592.717

Synonyms:

Slim Mappings:

Nervous system disease|Signs and symptoms

Reference:

MedGen: D012021
MeSH: D012021
OMIM: 145290;

Genes:

Phenotypes

1	HP:0000006	Autosomal dominant inheritance
2	HP:0007703	Abnormality of retinal pigmentation
3	HP:0011448	Ankle clonus
4	HP:0000252	Microcephaly	HP:0040283

Disease Causing ClinVar Variants