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autosomal recessive disease
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Thalassemia
?
TBD
Family of inherited blood disorders
Cystic fibrosis
?
TBD
Genetic disorder inhibiting clearance of mucus from the lungs
Usher syndrome
?
TBD
Recessive genetic disorder causing deafblindness
Congenital afibrinogenemia
?
TBD
Medical condition
Alström syndrome
?
TBD
Rare genetic disorder involving childhood obesity and multiple organ dysfunction
Bardet–Biedl syndrome
?
TBD
Ciliopathic recessive genetic disorder
Wolfram syndrome 1
?
TBD
Human disease
Antley–Bixler syndrome
?
TBD
Congenital disorder
Sickle cell disease
?
TBD
Medical condition
Abetalipoproteinemia
?
TBD
Medical condition
Tricho-hepato-enteric syndrome
?
TBD
Medical condition
Cohen syndrome
?
TBD
scientific article published on 01 May 1993
karyomegalic interstitial nephritis
?
TBD
interstitial nephritis characterized by nephritis, interstitial fibrosis, and enlarged and atypical tubular epithelial cell nuclei that has material basis in homozygous or compound heterozygous mutation in the FAN1 gene on chromosome 15q13.3
Hereditary folate malabsorption
?
TBD
Medical condition
focal segmental glomerulosclerosis 9
?
TBD
focal segmental glomerulosclerosis that has material basis in an autosomal recessive mutation of CRB2 on chromosome 9q33.3
Norman–Roberts syndrome
?
TBD
Medical condition
hyaline fibromatosis syndrome
?
TBD
human disease
Xeroderma pigmentosum
?
TBD
Medical condition
Carbamoyl phosphate synthetase I deficiency
?
TBD
Medical condition
Pantothenate kinase-associated neurodegeneration
?
TBD
Genetic neurodegenerative disease with brain iron accumulation
Autosomal recessive cerebellar ataxia
?
TBD
Index of articles associated with the same name
Bernard–Soulier syndrome
?
TBD
Medical condition
combined oxidative phosphorylation defect type 26
?
TBD
human disease
VLDLR-associated cerebellar hypoplasia
?
TBD
Medical condition
leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome
?
TBD
human disease
Urofacial syndrome
?
TBD
Medical condition
LIG4 syndrome
?
TBD
Medical condition
neonatal severe cardiopulmonary failure due to mitochondrial methylation defect
?
TBD
human disease
combined oxidative phosphorylation defect type 25
?
TBD
human disease
combined oxidative phosphorylation defect type 30
?
TBD
human disease
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