autosomal recessive disease

Findings

No curated finding names autosomal recessive disease yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.

Definition

Where it sits

A kind of

• autosomal genetic disease

Narrower terms (226)

• 3-M syndrome
• achalasia microcephaly syndrome
• acromesomelic dysplasia 2B
• acrorenal syndrome, autosomal recessive
• Alstrom syndrome
• autosomal recessive Alport syndrome
• autosomal recessive Ehlers-Danlos syndrome, vascular type
• autosomal recessive faciodigitogenital syndrome
• autosomal recessive familial Mediterranean fever
• autosomal recessive humeroradial synostosis
• autosomal recessive hydrocephalus due to congenital stenosis of aqueduct of Sylvius
• autosomal recessive Kenny-Caffey syndrome
• autosomal recessive palmoplantar keratoderma and congenital alopecia
• Behr syndrome
• beta-ketothiolase deficiency
• bifid nose, autosomal recessive
• Bloom syndrome
• Bowen-Conradi syndrome
• brittle cornea syndrome
• camptodactyly with fibrous tissue hyperplasia and skeletal dysplasia
• camptodactyly-arthropathy-coxa vara-pericarditis syndrome
• cartilage-hair hypoplasia
• cleft lip/palate-ectodermal dysplasia syndrome
• COFS syndrome
• craniometaphyseal dysplasia, autosomal recessive
• cystic fibrosis
• dacryocystitis-osteopoikilosis syndrome
• Donnai-Barrow syndrome
• Donohue syndrome
• Ellis-van Creveld syndrome
• Fraser syndrome
• Galloway-Mowat syndrome
• Haim-Munk syndrome
• heart defects-limb shortening syndrome
• Hutchinson-Gilford progeria syndrome
• hydrocephalus, nonsyndromic, autosomal recessive 1
• hydrolethalus syndrome
• hypercalcemia, infantile
• hypertelorism, microtia, facial clefting syndrome
• hypoparathyroidism-retardation-dysmorphism syndrome
• immunodeficiency-centromeric instability-facial anomalies syndrome
• isolated hyperchlorhidrosis
• Johanson-Blizzard syndrome
• Laurence-Moon syndrome
• lipase deficiency, combined
• microphthalmia with limb anomalies
• mulibrey nanism
• multinucleated neurons-anhydramnios-renal dysplasia-cerebellar hypoplasia-hydranencephaly syndrome
• myotonia congenita, autosomal recessive
• Nijmegen breakage syndrome
• Ochoa syndrome
• Papillon-Lefevre disease
• persistent hyperplastic primary vitreous, autosomal recessive
• polycystic lipomembranous osteodysplasia with sclerosing leukoencephaly
• pseudo-TORCH syndrome
• Schöpf-Schulz-Passarge syndrome
• thiamine-responsive megaloblastic anemia syndrome
• triple-A syndrome
• Vici syndrome
• Wolcott-Rallison syndrome
• and 166 more

Resolves to: autosomal recessive disease

Also called

autosomal recessive disease or disorderautosomal recessive hereditary diseaseautosomal recessive hereditary disorderautosomal recessive inherited diseaseautosomal recessive inherited disorderdisease or disorder, autosomal recessivedisease, autosomal recessive