Disease browser and phenotype portal

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MSeqDR-LSDB
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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: Nervous System Diseases (D009422)
..Starting node ..Cranial Nerve Diseases (D003389)
Child Nodes:
........Abducens Nerve Diseases (D020434) 3
........Accessory Nerve Diseases (D020436) 1
........Cranial Nerve Injuries (D020209) 15
........Cranial Nerve Neoplasms (D003390) 4
........Cranial Nerves, Congenital Paresis Of (C565673)
........Cranial Nerves, Recurrent Paresis Of (C565672)
........Facial Nerve Diseases (D005155) 13
........Facial Neuralgia (D005156)
........Glossopharyngeal Nerve Diseases (D020435) 1
........Hypoglossal Nerve Diseases (D020437) 1
........Ocular Motility Disorders (D015835) 109
........Oculomotor Nerve Diseases (D015840) 4
........Olfactory Nerve Diseases (D020431) 2
........Ophthalmoplegic Migraine (D060486)
........Optic Nerve Diseases (D009901) 69
........Synovitis granulomatous with uveitis and cranial neuropathies (C538157)
........Trigeminal Nerve Diseases (D020433) 3
........Trochlear Nerve Diseases (D020432) 1
........Vagus Nerve Diseases (D020421) 10
........Vestibulocochlear Nerve Diseases (D000160) 9
Sister Nodes:
..Alpha-Methylacyl-CoA Racemase Deficiency (C565768)
..Autoimmune Diseases of the Nervous System (D020274) 60
..Autonomic Nervous System Diseases (D001342) 51
..Central Nervous System Diseases (D002493) 1489
..Chronobiology Disorders (D021081) 5
..Congenital Cataracts, Facial Dysmorphism, And Neuropathy (C565822)
..Cranial Nerve Diseases (D003389) 238
..Demyelinating Diseases (D003711) 75
..Marcus Gunn phenomenon (C535908)
..Nervous System Malformations (D009421) 567
..Nervous System Neoplasms (D009423) 89
..Neurocutaneous Syndromes (D020752) 42
..Neurodegenerative Diseases (D019636) 704
..Neurologic Disease, Infantile Multisystem, with Osseous Fragility (C564954)
..Neurologic Manifestations (D009461) 1586
..Neuromuscular Diseases (D009468) 811
..Neuronal intestinal pseudoobstruction (C537394)
..Neurotoxicity Syndromes (D020258) 20
..Norrie disease (C537849)
..Polyglucosan Body Disease, Adult Form (C564878)
..Restless Legs Syndrome (D012148) 2
..Roy Maroteaux Kremp syndrome (C535875)
..Sleep Disorders (D012893) 41
..Tang Hsi Ryu syndrome (C536897)
..Trauma, Nervous System (D020196) 73
..Trifunctional Protein Deficiency With Myopathy And Neuropathy (C566945)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:	2803
Name:	Cranial Nerve Diseases
Definition:	Disorders of one or more of the twelve cranial nerves. With the exception of the optic and olfactory nerves, this includes disorders of the brain stem nuclei from which the cranial nerves originate or terminate.
Alternative IDs:
ParentIDs:	MESH:D009422
TreeNumbers:	C10.292
Synonyms:	Cranial Nerve Disease \|Cranial Nerve Disorder \|Cranial Nerve Disorders \|Cranial Nerve Palsies \|Cranial Nerve Palsy \|Cranial Neuropathies \|Cranial Neuropathies, Multiple \|Cranial Neuropathy \|Cranial Neuropathy, Multiple \|Multiple Cranial Neuropathies \|Multiple Cran
Slim Mappings:	Nervous system disease
Reference:	MedGen: D003389 MeSH: D003389 OMIM: Genes:
Phenotypes
Disease Causing ClinVar Variants