Disease browser and phenotype portal

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MSeqDR-LSDB
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- 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: Deafness (D003638)
Parent Node: Heredodegenerative Disorders, Nervous System (D020271)
Parent Node: Muscle Spasticity (D009128)
Parent Node: Quadriplegia (D011782)
Parent Node: Speech Disorders (D013064)
..Starting node ..Opticocochleodentate Degeneration (C563002)
Child Nodes:
Sister Nodes:
..Aphasia (D001037) 6
..Arginine:Glycine Amidinotransferase Deficiency (C567192)
..Articulation Disorders (D001184) 7
..Atonic-Astatic Syndrome of Foerster (C565926)
..CHROMOSOME 17p13.1 DELETION SYNDROME (OMIM:613776)
..Echolalia (D004454)
..Maxillofacial Dysostosis (C563599)
..MENTAL RETARDATION, AUTOSOMAL DOMINANT 20 (OMIM:613443)
..Mutism (D009155)
..Non-lissencephalic cortical dysplasia (C536243)
..Opticocochleodentate Degeneration (C563002)
..Rolandic Epilepsy, Mental Retardation, and Speech Dyspraxia, X-Linked (C564467)
..Speech disturbance - use of faulty phrasing and unrelated words (C538446)
..Stuttering (D013342) 2
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:

8300

Name:

Opticocochleodentate Degeneration

Definition:

Alternative IDs:

ParentIDs:

MESH:D003638|MESH:D009128|MESH:D011782|MESH:D013064|MESH:D020271

TreeNumbers:

C05.651.512/C563002 |C09.218.458.341.186/C563002 |C10.574.500/C563002 |C10.597.606.150.500.800/C563002 |C10.597.613.550.550/C563002 |C10.597.622.760/C563002 |C10.597.751.418.341.186/C563002 |C16.320.400/C563002 |C23.888.592.604.150.500.800/C563002 |C23.888.592.60

Synonyms:

Slim Mappings:

Ear-nose-throat disease|Genetic disease (inborn)|Musculoskeletal disease|Nervous system disease|Signs and symptoms

Reference:

MedGen: C563002
MeSH: C563002
OMIM: 258700;

Genes:

Phenotypes

1	HP:0000007	Autosomal recessive inheritance
2	HP:0001344	Absent speech
3	HP:0005102	Cochlear degeneration
4	HP:0000365	Hearing impairment
5	HP:0001268	Mental deterioration
6	HP:0000648	Optic atrophy
7	HP:0002510	Spastic tetraplegia
8	HP:0000572	Visual loss

Disease Causing ClinVar Variants