Disease browser and phenotype portal

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MSeqDR-LSDB
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- Quick-Mitome for WES
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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

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Most Common: Hearing Loss (D034381), Deafness (D003638), Sensorineural HL (D006319), Waardenburg Syndrome, Usher Syndromes

Disease Browser
Parent Node: Metabolic Diseases (D008659)
..Starting node ..Iron Metabolism Disorders (D019189)
Child Nodes:
........Anemia, Iron-Deficiency (D018798) 1
........Familial apoceruloplasmin deficiency (C536004)
........Heme Oxygenase 1 Deficiency (C564200)
........Hyperferritinemia, hereditary, with congenital cataracts (C538137)
........Iron Overload (D019190) 12
........NBIA2B (C565699)
........Neurodegeneration with brain iron accumulation (NBIA) (C538421) 2
........Neuroferritinopathy (C548080)
Sister Nodes:
..Acid-Base Imbalance (D000137) 42
..ADIPONECTIN, SERUM LEVEL OF, QUANTITATIVE TRAIT LOCUS 2 (OMIM:606770)
..ADIPONECTIN, SERUM LEVEL OF, QUANTITATIVE TRAIT LOCUS 3 (OMIM:606771)
..Brain Diseases, Metabolic (D001928) 244
..Calcium Metabolism Disorders (D002128) 94
..DNA Repair-Deficiency Disorders (D049914) 95
..Glucose Metabolism Disorders (D044882) 137
..Hyperlactatemia (D065906)
..Hypermanganesemia with Dystonia Polycythemia and Cirrhosis (C548016)
..Iron Metabolism Disorders (D019189) 23
..Lipid Metabolism Disorders (D052439) 189
..Malabsorption Syndromes (D008286) 29
..Metabolic Syndrome X (D024821) 1
..Metabolism, Inborn Errors (D008661) 886
..Mitochondrial Diseases (D028361) 114
..Phosphorus Metabolism Disorders (D010760) 25
..Porphyrias (D011164) 18
..Proteostasis Deficiencies (D057165) 55
..SHORT syndrome (C537327)
..Skin Diseases, Metabolic (D012875) 33
..Wasting Syndrome (D019282) 1
..Water-Electrolyte Imbalance (D014883) 31
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:	5912
Name:	Iron Metabolism Disorders
Definition:	Disorders in the processing of iron in the body: its absorption, transport, storage, and utilization. (From Mosby's Medical, Nursing, & Allied Health Dictionary, 4th ed)
Alternative IDs:
ParentIDs:	MESH:D008659
TreeNumbers:	C18.452.565
Synonyms:	Disorder, Iron Metabolism \|Disorders, Iron Metabolism \|Iron Metabolism Disorder \|Metabolism Disorder, Iron \|Metabolism Disorders, Iron
Slim Mappings:	Metabolic disease
Reference:	MedGen: D019189 MeSH: D019189 OMIM: Genes:
Phenotypes
Disease Causing ClinVar Variants