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:
expand
autosomal genetic disease (MONDO:0000429)
..Starting node
..expand
autosomal recessive disease ()

       Child Nodes:
........expand3-M syndrome ()
........expandachalasia microcephaly syndrome ()
........expandacrorenal syndrome, autosomal recessive ()
........expandAlstrom syndrome ()
........expandautosomal recessive Alport syndrome ()
........expandautosomal recessive Ehlers-Danlos syndrome, vascular type ()
........expandautosomal recessive Emery-Dreifuss muscular dystrophy ()
........expandautosomal recessive faciodigitogenital syndrome ()
........expandautosomal recessive familial Mediterranean fever ()
........expandautosomal recessive humeroradial synostosis ()
........expandautosomal recessive hydrocephalus due to congenital stenosis of aqueduct of Sylvius ()
........expandautosomal recessive infantile hypercalcemia ()
........expandautosomal recessive Kenny-Caffey syndrome ()
........expandautosomal recessive multiple pterygium syndrome ()
........expandautosomal recessive omodysplasia ()
........expandautosomal recessive polycystic kidney disease ()
........expandbeta-ketothiolase deficiency ()  LSDB  L: 00402;
........expandbifid nose, autosomal recessive ()
........expandBjornstad syndrome ()  LSDB  L: 00084;
........expandBloom syndrome ()
........expandBowen-Conradi syndrome ()
........expandbrittle cornea syndrome ()
........expandcamptodactyly with fibrous tissue hyperplasia and skeletal dysplasia ()
........expandcamptodactyly-arthropathy-coxa vara-pericarditis syndrome ()
........expandcartilage-hair hypoplasia ()
........expandcraniometaphyseal dysplasia, autosomal recessive ()
........expandcystic fibrosis ()
........expandDonnai-Barrow syndrome ()
........expandDonohue syndrome ()
........expandEllis-van Creveld syndrome ()
........expandfibular hypoplasia and complex brachydactyly ()
........expandFraser syndrome ()
........expandGalloway-Mowat syndrome ()
........expandheart defects-limb shortening syndrome ()
........expandHutchinson-Gilford progeria syndrome ()
........expandhydrocephalus, nonsyndromic, autosomal recessive 1 ()
........expandhydrolethalus syndrome ()
........expandhypertelorism, microtia, facial clefting syndrome ()
........expandhypoparathyroidism-retardation-dysmorphism syndrome ()
........expandimmunodeficiency-centromeric instability-facial anomalies syndrome ()
........expandinherited pseudoxanthoma elasticum ()
........expandJohanson-Blizzard syndrome ()
........expandLaron syndrome ()
........expandLaurence-Moon syndrome ()
........expandlipase deficiency, combined ()
........expandmicrophthalmia with limb anomalies ()
........expandmulibrey nanism ()
........expandmultinucleated neurons-anhydramnios-renal dysplasia-cerebellar hypoplasia-hydranencephaly syndrome ()
........expandmultiple intestinal atresia ()
........expandmyotonia congenita, autosomal recessive ()
........expandNasu-Hakola disease ()
........expandNiemann-Pick disease ()
........expandNijmegen breakage syndrome ()
........expandOchoa syndrome ()
........expandoculodentodigital dysplasia, autosomal recessive ()
........expandosteoporosis-pseudoglioma syndrome ()
........expandpersistent hyperplastic primary vitreous, autosomal recessive ()
........expandphenylketonuria ()
........expandpseudo-TORCH syndrome ()
........expandrapadilino syndrome ()
........expandSchwartz-Jampel syndrome ()
........expandthiamine-responsive megaloblastic anemia syndrome ()
........expandtriple-A syndrome ()
........expandVici syndrome ()
........expandWolcott-Rallison syndrome ()
........expandZlotogora-Ogur syndrome ()



 Sister Nodes: 
..expandautosomal dominant disease ()
..expandautosomal recessive disease ()
..expandbrachydactyly-syndactyly syndrome ()
..expandcamptodactyly-tall stature-scoliosis-hearing loss syndrome ()
..expandcongenital factor XI deficiency ()
..expandcongenital factor XII deficiency ()
..expandseptooptic dysplasia ()
..expandWeill-Marchesani syndrome ()
   

MONDO is developed by the Monarch Initiative. Human Disease MESH is developed by UMLS.
Further data from MedGen, OMIM,ClinVar, CTD
Term ID:6025
Name:autosomal recessive disease
Definition:Autosomal recessive form of disease.
Alternative IDs:
ParentIDs:
TreeNumbers:
Synonyms:autosomal recessive disease or disorder; autosomal recessive hereditary disease; autosomal recessive hereditary disorder; autosomal recessive inherited disease; autosomal recessive inherited disorder; disease or disorder, autosomal recessive; disease, autosomal recessive; recessive hereditary disord
Slim Mappings:
Reference: MedGen:
MeSH:
OMIM:
MSeqDR LSDB:  
Genes:
Phenotypes
Disease Causing ClinVar Variants
MSeqDR Portal