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: Central Nervous System Cysts (D020863)
Parent Node: Cysts (D003560)
..Starting node ..Arachnoid Cysts (D016080)
Child Nodes:
........Bobble-head doll syndrome (C536241)
........Chudley-Mccullough syndrome (C535459)
........PACHYGYRIA WITH MENTAL RETARDATION, SEIZURES, AND ARACHNOID CYSTS (OMIM:600176)
........Spinal intradural arachnoid cysts (C536878)
........Tibia absent polydactyly arachnoid cyst (C536918)
........Tibia, Absence or Hypoplasia of, with Polydactyly, Retrocerebellar Arachnoid Cyst, and Other Anomalies (C563403)
Sister Nodes:
..Aplasia Cutis Congenita, Congenital Heart Defect, And Frontonasal Cysts (C566997)
..Arachnoid Cysts (D016080) 6
..Bone Cysts (D001845) 11
..Branchioma (D001935)
..Breast Cyst (D047688) 1
..Bronchogenic Cyst (D001994)
..Chalazion (D017043)
..Choledochal Cyst (D015529) 2
..Colloid Cysts (D056364) 1
..Cystic medial necrosis of aorta (C536230)
..Dermoid Cyst (D003884) 5
..Ectodermal dysplasia adrenal cyst (C538015)
..Epidermal Cyst (D004814) 2
..Esophageal Cyst (D004934)
..Follicular Cyst (D005497) 2
..Ganglion Cysts (D045888)
..Leukoencephalopathy, Cystic, Without Megalencephaly (C567845)
..Lymphocele (D008210) 1
..Mediastinal Cyst (D008476)
..Megalencephalic leukoencephalopathy with subcortical cysts (C536141)
..Mesenteric Cyst (D008639)
..Microphthalmia associated with colobomatous cyst (C537463)
..Mucocele (D009078)
..Ovarian Cysts (D010048) 5
..Pancreatic Cyst (D010181) 2
..Parovarian Cyst (D010310)
..Pilonidal Sinus (D010864)
..Polycystic liver disease (C536330)
..Ranula (D011900)
..Sener syndrome (C537579)
..Spermatocele (D013088)
..Synovial Cyst (D013581) 1
..Tarlov Cysts (D052958)
..Thyroglossal Cyst (D013955) 1
..Urachal Cyst (D014496) 1
..Van der Woude syndrome (C536528) 1
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:	837
Name:	Arachnoid Cysts
Definition:	Intracranial or spinal cavities containing a cerebrospinal-like fluid, the wall of which is composed of arachnoidal cells. They are most often developmental or related to trauma. Intracranial arachnoid cysts usually occur adjacent to arachnoidal cistern and may present with HYDROCEPHALUS; HEADACHE; SEIZURES; and focal neurologic signs. (From Joynt, Clinical Neurology, 1994, Ch44, pp105-115)
Alternative IDs:
ParentIDs:	MESH:D003560\|MESH:D020863
TreeNumbers:	C04.182.044 \|C04.588.614.250.387.100 \|C10.500.142.100 \|C10.551.240.375.100 \|C16.131.666.142.100
Synonyms:	Arachnoid Cyst, Intracranial \|Arachnoid Cysts, Intracranial \|Arachnoid Diverticula \|Arachnoid Diverticulas \|Cyst, Arachnoid \|Cyst, Intracranial Arachnoid \|Cyst, Leptomeningeal \|Cysts, Arachnoid \|Cysts, Intracranial Arachnoid \|Cysts, Leptomeningeal \|Diverticula, Ar
Slim Mappings:	Cancer\|Congenital abnormality\|Nervous system disease
Reference:	MedGen: D016080 MeSH: D016080 OMIM: Genes:
Phenotypes
Disease Causing ClinVar Variants