MSeqDR Mitochondrial disease browser phenotype pathogenic gene and mutation 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

*:HP: HPO terms, ND: NAMDC terms.
Most Studied CPEO, Complex I Deficiency, COXPD1, Leigh, LHON, MELAS, MERRF, NARP, SANDO

Disease Browser
Parent Node: hypertensive disorder (MONDO:0005044)
..Starting node ..pulmonary hypertension ()
Child Nodes:
........chronic thromboembolic pulmonary hypertension ()
........pulmonary arterial hypertension ()
........pulmonary hypertension owing to lung disease and/or hypoxia ()
........pulmonary hypertension with unclear multifactorial mechanism ()
........pulmonary veno-occlusive disease and/or pulmonary capillary haemangiomatosis ()
........syndrome with pulmonary hypertension as a major feature ()
Sister Nodes:
..chemotherapy-induced hypertension ()
..early onset hypertension ()
..essential hypertension ()
..genetic hypertension ()
..hypertension, pregnancy-induced ()
..intracranial hypertension ()
..kallikrein hypertension ()
..malignant hypertension ()
..ocular hypertension ()
..pulmonary hypertension ()
..resistant hypertension ()
..secondary hypertension ()
MONDO is developed by the Monarch Initiative. Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM,ClinVar, CTD

Term ID:	5149
Name:	pulmonary hypertension
Definition:	Increased pressure within the pulmonary circulation due to lung or heart disorder.
Alternative IDs:
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Synonyms:
Slim Mappings:
Reference:	MedGen: MeSH: OMIM: MSeqDR : Genes:
Phenotypes
Disease Causing ClinVar Variants
MSeqDR Portal