MSeqDR Mitochondrial disease browser phenotype pathogenic gene and mutation portal

Hello! Guest! Please Login or Register! Clinician Mode

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: inherited renal tubular disease (MONDO:0015962)
Parent Node: pseudohypoaldosteronism (MONDO:0018638)
..Starting node ..pseudohypoaldosteronism type 1 ()
Child Nodes:
........autosomal dominant pseudohypoaldosteronism type 1 ()
........autosomal recessive pseudohypoaldosteronism type 1 ()
Sister Nodes:
..pseudohypoaldosteronism type 1 ()
..pseudohypoaldosteronism type 2 ()
..transient pseudohypoaldosteronism ()
MONDO is developed by the Monarch Initiative. Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM,ClinVar, CTD

Term ID:	19161
Name:	pseudohypoaldosteronism type 1
Definition:	Pseudohypoaldosteronism type 1 (PHA1) is a primary form of mineralocorticoid resistance presenting in the newborn with renal salt wasting, failure to thrive and dehydration.
Alternative IDs:
ParentIDs:
TreeNumbers:
Synonyms:	PHA type 1; PHA1B; pseudohypoaldosteronism type I autosomal recessive
Slim Mappings:
Reference:	MedGen: MeSH: OMIM: MSeqDR : Genes:
Phenotypes
Disease Causing ClinVar Variants
MSeqDR Portal