Searching map area
autosomal recessive disease
Subclasses
Sickle cell disease
? TBD
Medical condition
Abetalipoproteinemia
? TBD
Medical condition
Hereditary folate malabsorption
? TBD
Medical condition
Norman–Roberts syndrome
? TBD
Medical condition
hyaline fibromatosis syndrome
? TBD
human disease
Carbamoyl phosphate synthetase I deficiency
? TBD
Medical condition
Pantothenate kinase-associated neurodegeneration
? TBD
Genetic neurodegenerative disease with brain iron accumulation
combined oxidative phosphorylation defect type 26
? TBD
human disease
Urofacial syndrome
? TBD
Medical condition
LIG4 syndrome
? TBD
Medical condition
Chorea-acanthocytosis
? TBD
Rare autosomal recessive genetic condition
Familial multiple intestinal atresia
? TBD
Medical condition
Epidermodysplasia verruciformis
? TBD
Medical condition
Kaufman oculocerebrofacial syndrome
? TBD
Medical condition
Bardet–Biedl syndrome
? TBD
Ciliopathic recessive genetic disorder
Wolfram syndrome 1
? TBD
Human disease
Tricho-hepato-enteric syndrome
? TBD
Medical condition
VLDLR-associated cerebellar hypoplasia
? TBD
Medical condition
leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome
? TBD
human disease
neonatal severe cardiopulmonary failure due to mitochondrial methylation defect
? TBD
human disease
combined oxidative phosphorylation defect type 25
? TBD
human disease
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
Antley–Bixler syndrome
? TBD
Congenital disorder
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
focal segmental glomerulosclerosis 9
? TBD
focal segmental glomerulosclerosis that has material basis in an autosomal recessive mutation of CRB2 on chromosome 9q33.3
Xeroderma pigmentosum
? TBD
Medical condition
Autosomal recessive cerebellar ataxia
? TBD
Index of articles associated with the same name