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: placenta disease (MONDO:0005917)
..Starting node ..oligohydramnios (disease) ()
Child Nodes:
........Potter syndrome ()
Sister Nodes:
..disease of extraembryonic membrane ()
..fetal growth restriction ()
..oligohydramnios (disease) ()
..placenta accreta ()
..placenta neoplasm ()
..placenta praevia ()
..placental abruption (disease) ()
..placental insufficiency ()
MONDO is developed by the Monarch Initiative. Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM,ClinVar, CTD

Term ID:	5881
Name:	oligohydramnios (disease)
Definition:	A lower than normal quantity of amniotic fluid in the amniotic sac as compared to normal values. Typically associated with an amniotic fluid index (AFI) of less than 5 cm or a single maximum vertical pocket (MVP) of less than 2 cm.
Alternative IDs:
ParentIDs:
TreeNumbers:
Synonyms:	antepartum oligohydramnios; delivered oligohydramnios; oligohydramnios; oligohydramnios - delivered
Slim Mappings:
Reference:	MedGen: MeSH: OMIM: MSeqDR : Genes:
Phenotypes
Disease Causing ClinVar Variants
MSeqDR Portal