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:
expandsystemic or rheumatic disease (MONDO:0020012)
..Starting node
..expandgenetic systemic or rheumatologic disease ()

       Child Nodes:
........expand3-methylglutaconic aciduria with cataracts, neurologic involvement and neutropenia ()
........expandadult Refsum disease ()
........expandalpha-mannosidosis ()
........expandAlport syndrome ()
........expandautoimmune interstitial lung disease-arthritis syndrome ()
........expandcamptodactyly-arthropathy-coxa vara-pericarditis syndrome ()
........expandcongenital cataract-ichthyosis syndrome ()
........expandcongenital cataracts-facial dysmorphism-neuropathy syndrome ()
........expandconnective tissue disorder due to lysyl hydroxylase-3 deficiency ()
........expandde Barsy syndrome ()
........expanddeficiency of the interleukin-36 receptor antagonist ()
........expandEhlers-Danlos syndrome ()
........expandFabry disease ()
........expandfamilial calcium pyrophosphate deposition ()
........expandfibrosclerosis, multifocal ()
........expandgalactosemia ()
........expandHallermann-Streiff syndrome ()
........expandhereditary amyloidosis ()
........expandhereditary hemorrhagic telangiectasia ()
........expandhereditary pediatric BehC'et-like disease ()
........expandhereditary periodic fever syndrome ()
........expandhypoplasminogenemia ()
........expandincontinentia pigmenti ()
........expandintermittent hydrarthrosis ()
........expandmalignant atrophic papulosis ()
........expandMarfan and Marfan-related disorder ()
........expandMarinesco-Sjogren syndrome ()
........expandMASS syndrome ()
........expandMeckel syndrome ()
........expandmixed autoinflammatory and autoimmune syndrome ()
........expandmyotonic dystrophy type 1 ()
........expandNance-Horan syndrome ()
........expandNiemann-Pick disease ()
........expandoculocerebrorenal syndrome ()
........expandprimary central nervous system vasculitis ()
........expandprogeria-associated arthropathy ()
........expandprogeroid and marfanoid aspect-lipodystrophy syndrome ()
........expandpseudohypoparathyroidism with Albright hereditary osteodystrophy ()
........expandretinal ischemic syndrome-digestive tract small vessel hyalinosis-diffuse cerebral calcifications syndrome ()
........expandrhizomelic chondrodysplasia punctata ()
........expandRoberts syndrome ()
........expandRothmund-Thomson syndrome ()
........expandSatoyoshi syndrome ()
........expandsea-blue histiocyte syndrome ()
........expandSengers syndrome ()  LSDB  L: 00403;
........expandSmith-Lemli-Opitz syndrome ()
........expandSotos syndrome ()
........expandSTAT3-related early-onset multisystem autoimmune disease ()
........expandStickler syndrome ()
........expandtype 1 interferonopathy ()
........expandvasculitis, lymphocytic, nodular ()
........expandX-linked chondrodysplasia punctata ()
........expandZellweger syndrome ()



 Sister Nodes: 
..expandgenetic systemic or rheumatologic disease ()
..expandnon-histaminic angioedema ()
..expandsystemic disease ()
..expandvasculitis ()
   

MONDO is developed by the Monarch Initiative. Human Disease MESH is developed by UMLS.
Further data from MedGen, OMIM,ClinVar, CTD
Term ID:17133
Name:genetic systemic or rheumatologic disease
Definition:An instance of systemic or rheumatic disease that is caused by a modification of the individual's genome.
Alternative IDs:
ParentIDs:
TreeNumbers:
Synonyms:hereditary systemic or rheumatic disease
Slim Mappings:
Reference: MedGen:
MeSH:
OMIM:
MSeqDR LSDB:  
Genes:
Phenotypes
Disease Causing ClinVar Variants
MSeqDR Portal