Disease browser and phenotype portal

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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: Central Nervous System Diseases (D002493)
..Starting node ..Spinal Cord Diseases (D013118)
Child Nodes:
........Amyotrophic Lateral Sclerosis (D000690) 21
........Epidural Abscess (D020802)
........Muscular Atrophy, Spinal (D009134) 33
........Myelitis (D009187) 6
........Pneumorrhachis (D063205)
........Poliomyelitis (D011051) 2
........Spinal Cord Compression (D013117)
........Spinal Cord Injuries (D013119) 3
........Spinal Cord Neoplasms (D013120) 1
........Spinal Cord Vascular Diseases (D020758) 3
........Spinal intradural arachnoid cysts (C536878)
........Spinocerebellar Degenerations (D013132) 85
........Stiff-Person Syndrome (D016750)
........Subacute Combined Degeneration (D052879)
........Syringomyelia (D013595) 3
........Tabes Dorsalis (D013606) 1
Sister Nodes:
..Brain Diseases (D001927) 1149
..Central Nervous System Infections (D002494) 96
..Encephalomyelitis (D004679) 8
..Endocrine-Cerebroosteodysplasia (C567210)
..Flynn Aird syndrome (C537066)
..High Pressure Neurological Syndrome (D006610)
..Meningitis (D008581) 19
..Movement Disorders (D009069) 306
..Neurosarcoidosis (C535814)
..Ocular Motility Disorders (D015835) 109
..Pneumocephalus (D011007)
..Renal cysts and diabetes syndrome (C535520)
..Skeletal Dysplasia And Progressive Central Nervous System Degeneration, Lethal (C566514)
..Spinal Cord Diseases (D013118) 170
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:	10458
Name:	Spinal Cord Diseases
Definition:	Pathologic conditions which feature SPINAL CORD damage or dysfunction, including disorders involving the meninges and perimeningeal spaces surrounding the spinal cord. Traumatic injuries, vascular diseases, infections, and inflammatory/autoimmune processes may affect the spinal cord.
Alternative IDs:
ParentIDs:	MESH:D002493
TreeNumbers:	C10.228.854
Synonyms:	Myelopathies \|Myelopathy \|Spinal Cord Disease \|Spinal Cord Disorder \|Spinal Cord Disorders
Slim Mappings:	Nervous system disease
Reference:	MedGen: D013118 MeSH: D013118 OMIM: Genes:
Phenotypes
Disease Causing ClinVar Variants