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: Arachnoid Cysts (D016080)
Parent Node: Spinal Cord Diseases (D013118)
..Starting node ..Spinal intradural arachnoid cysts (C536878)
Child Nodes:
Sister 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
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:

10469

Name:

Spinal intradural arachnoid cysts

Definition:

Alternative IDs:

ParentIDs:

MESH:D013118|MESH:D016080

TreeNumbers:

C04.182.044/C536878 |C04.588.614.250.387.100/C536878 |C10.228.854/C536878 |C10.500.142.100/C536878 |C10.551.240.375.100/C536878 |C16.131.666.142.100/C536878

Synonyms:

Arachnoid cysts, spinal intradural

Slim Mappings:

Cancer|Congenital abnormality|Nervous system disease

Reference:

MedGen: C536878
MeSH: C536878
OMIM: 182990;

Genes:

Phenotypes

1	HP:0000006	Autosomal dominant inheritance
2	HP:0000925	Abnormality of the vertebral column
3	HP:0100702	Arachnoid cyst
4	HP:0010550	Paraplegia

Disease Causing ClinVar Variants