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autosomal recessive disease
Subclasses
Bernard–Soulier syndrome
? TBD
Medical condition
combined oxidative phosphorylation defect type 26
? TBD
human disease
Urofacial syndrome
? TBD
Medical condition
LIG4 syndrome
? TBD
Medical condition
combined oxidative phosphorylation defect type 30
? TBD
human disease
Chorea-acanthocytosis
? TBD
Rare autosomal recessive genetic condition
Kaufman oculocerebrofacial syndrome
? TBD
Medical condition
Thalassemia
? TBD
Family of inherited blood disorders
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
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
Norman–Roberts syndrome
? TBD
Medical condition
hyaline fibromatosis syndrome
? TBD
human disease
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
VLDLR-associated cerebellar hypoplasia
? TBD
Medical condition
neonatal severe cardiopulmonary failure due to mitochondrial methylation defect
? TBD
human disease
autosomal recessive hypophosphatemic rickets
? TBD
rickets that has material basis in autosomal recessive inheritance mutation in the DMP1 gene and is haracterized by hypophosphatemia, rickets and/or osteomalacia and slow growth
Usher syndrome
? TBD
Recessive genetic disorder causing deafblindness
Tricho-hepato-enteric syndrome
? TBD
Medical condition
Xeroderma pigmentosum
? TBD
Medical condition
Carbamoyl phosphate synthetase I deficiency
? TBD
Medical condition
leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome
? TBD
human disease
combined oxidative phosphorylation defect type 25
? TBD
human disease