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: anomaly of puberty or/and menstrual cycle (MONDO:0015860)
..Starting node ..anomaly of puberty or/and menstrual cycle of genetic origin ()
Child Nodes:
........congenital hypogonadotropic hypogonadism ()
........cortisone reductase deficiency ()
........estrogen resistance syndrome ()
........inherited primary ovarian failure ()
Sister Nodes:
..acquired primary ovarian failure ()
..anomaly of puberty or/and menstrual cycle of genetic origin ()
..menstrual cycle-dependent periodic fever ()
..precocious puberty in female ()
MONDO is developed by the Monarch Initiative. Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM,ClinVar, CTD

Term ID:	16072
Name:	anomaly of puberty or/and menstrual cycle of genetic origin
Definition:	An instance of anomaly of puberty or/and menstrual cycle that is caused by a modification of the individual's genome.
Alternative IDs:
ParentIDs:
TreeNumbers:
Synonyms:	genetic anomaly of puberty or/and menstrual cycle
Slim Mappings:
Reference:	MedGen: MeSH: OMIM: MSeqDR : Genes:
Phenotypes
Disease Causing ClinVar Variants
MSeqDR Portal