Disease browser and phenotype portal

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MSeqDR-LSDB
Tools
- Quick-Mitome for WES
- Quick-Mitome
- Quick-Mitome Report
- mtDNA Tool:
- mvTool
- Phy-Mer
- MToolBox
- mvTool for Haplogroup
- mvTool with HmtDB
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- MitoTIP tRNA Scoring
- MSeq-OpenCGA
- Variant 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: Brain Diseases (D001927)
..Starting node ..Hypothalamic Diseases (D007027)
Child Nodes:
........Bardet-Biedl Syndrome (D020788) 13
........Hypothalamic hamartomas (C537158)
........Hypothalamic Neoplasms (D007029) 7
........Laurence-Moon Syndrome (D007849)
........Microgastria limb reduction defect (C537554)
........Pituitary Diseases (D010900) 60
Sister Nodes:
..Akinetic Mutism (D000405)
..Amblyopia (D000550) 2
..Amnesia, Transient Global (D020236)
..Auditory Diseases, Central (D001304) 19
..Baraitser Brett Piesowicz syndrome (C537905)
..Basal Ganglia Diseases (D001480) 102
..Beta-Ureidopropionase Deficiency (C563210)
..Brain Abscess (D001922) 1
..Brain Damage, Chronic (D001925) 13
..Brain Death (D001926)
..Brain Diseases, Metabolic (D001928) 244
..Brain Edema (D001929) 1
..Brain Injuries (D001930) 11
..Brain Neoplasms (D001932) 30
..Cerebellar Diseases (D002526) 162
..Cerebrovascular Disorders (D002561) 108
..Colpocephaly (C535973)
..Crome syndrome (C536216)
..Dementia (D003704) 73
..Dermatoleukodystrophy (C538220)
..Diffuse Cerebral Sclerosis of Schilder (D002549) 3
..Encephalitis (D004660) 32
..Encephalomalacia (D004678) 2
..Epilepsy (D004827) 196
..Granulomas, congenital cerebral (C537294)
..Hashimoto's encephalitis (C535841)
..Headache Disorders (D020773) 26
..Hydrocephalus (D006849) 52
..Hypothalamic Diseases (D007027) 80
..Hypoxia, Brain (D002534) 2
..Intracranial Hypertension (D019586) 57
..Intracranial Hypotension (D019585)
..Keratosis follicularis dwarfism cerebral atrophy (C536158)
..Kluver-Bucy Syndrome (D020232) 1
..Leukoencephalopathies (D056784) 70
..Macrogyria, pseudobulbar palsy and mental retardation (C537722)
..MICROCEPHALY, POSTNATAL PROGRESSIVE, WITH SEIZURES AND BRAIN ATROPHY (OMIM:613668)
..Neu Laxova syndrome (C536405)
..Neuroaxonal Dystrophies (D019150) 13
..Non-lissencephalic cortical dysplasia (C536243)
..RAJAB SYNDROME (OMIM:613658)
..Rambaud Galian syndrome (C535283)
..Sener syndrome (C537579)
..Sepsis-Associated Encephalopathy (D065166)
..Spastic Pseudosclerosis (C563024)
..Subdural Effusion (D013353)
..Thalamic Diseases (D013786) 1
..Thyrocerebral-retinal syndrome (C536908)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:	5631
Name:	Hypothalamic Diseases
Definition:	Neoplastic, inflammatory, infectious, and other diseases of the hypothalamus. Clinical manifestations include appetite disorders; AUTONOMIC NERVOUS SYSTEM DISEASES; SLEEP DISORDERS; behavioral symptoms related to dysfunction of the LIMBIC SYSTEM; and neuroendocrine disorders.
Alternative IDs:
ParentIDs:	MESH:D001927
TreeNumbers:	C10.228.140.617
Synonyms:	Diencephalic Syndrome, Pituitary \|Diencephalic Syndromes, Pituitary \|Disease, Hypothalamic \|Diseases, Hypothalamic \|Disorder, Hypothalamic-Adenohypophyseal \|Disorder, Hypothalamic-Neurohypophyseal \|Disorders, Hypothalamic-Adenohypophyseal \|Disorders, Hypothalam
Slim Mappings:	Nervous system disease
Reference:	MedGen: D007027 MeSH: D007027 OMIM: Genes:
Phenotypes
Disease Causing ClinVar Variants