MSeqDR Mitochondrial Disease Portal


 
*:HP: HPO terms, ND: NAMDC terms.
  Most Studied  CPEO, Complex I Deficiency, COXPD1, Leigh, LHON, MELAS, MERRF, NARP, SANDO
Disease Browser
Parent Node:
expandanomaly of puberty or/and menstrual cycle of genetic origin (MONDO:0016072)
Parent Node:
expandgenetic endocrine growth disease (MONDO:0015514)
Parent Node:
expandprimary ovarian failure (MONDO:0005387)
Parent Node:
expandrare endocrine growth disease (MONDO:0019590)
..Starting node
..expandinherited primary ovarian failure ()

       Child Nodes:
........expand46 XX gonadal dysgenesis ()
........expand46,XX ovarian dysgenesis-short stature syndrome ()
........expandaromatase deficiency ()
........expandataxia telangiectasia ()
........expandblepharophimosis, ptosis, and epicanthus inversus syndrome ()
........expandclassic galactosemia ()
........expandcongenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency ()
........expandcongenital lipoid adrenal hyperplasia due to STAR deficency ()
........expandmicrocephalic primordial dwarfism-insulin resistance syndrome ()
........expandosteosclerosis-ichthyosis-premature ovarian failure syndrome ()
........expandPerrault syndrome ()
........expandpremature ovarian failure 1 ()
........expandpremature ovarian failure 11 ()
........expandpremature ovarian failure 12 ()
........expandpremature ovarian failure 2A ()
........expandpremature ovarian failure 2B ()
........expandpremature ovarian failure 3 ()
........expandpremature ovarian failure 5 ()
........expandpremature ovarian failure 6 ()
........expandpremature ovarian failure 7 ()
........expandpremature ovarian failure 8 ()
........expandpremature ovarian failure 9 ()
........expandSatoyoshi syndrome ()
........expandtetrasomy X ()
........expandtrisomy X ()
........expandTurner syndrome ()
........expandX small rings ()



 Sister Nodes: 
..expandcataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome ()
..expandcongenital adrenal hyperplasia ()
..expandcongenital hypothyroidism ()
..expandgrowth hormone insensitivity syndrome ()
..expandinherited primary ovarian failure ()
..expandnon-acquired pituitary hormone deficiency ()
   

MONDO is developed by the Monarch Initiative. Human Disease MESH is developed by UMLS.
Further data from MedGen, OMIM,ClinVar, CTD
Term ID:19852
Name:inherited primary ovarian failure
Definition:An instance of primary ovarian failure that is caused by an inherited modification of the individual's genome.
Alternative IDs:
ParentIDs:
TreeNumbers:
Synonyms:hereditary primary ovarian failure; non-acquired premature ovarian failure
Slim Mappings:
Reference: MedGen:
MeSH:
OMIM:
MSeqDR LSDB:  
Genes:
Phenotypes
Disease Causing ClinVar Variants
MSeqDR Portal