GenTIGSA Gene Database on Rare Genetic Disorders
  Beta Version
Autosomal Recessive Osteopetrosis 1  
Disease Aliases (23)

Albers-schonberg disease, autosomal recessive

Autosomal recessive osteopetrosis type 1

Marble bones, autosomal recessive

Marble bones autosomal recessive

Optb1

Osteopetrosis, infantile malignant 1

Osteopetrosis autosomal recessive 1

Osteopetrosis infantile malignant 1

Tcirg1 autosomal recessive malignant osteopetrosis

Tcirg1 autosomal recessive osteopetrosis

Albers-schonberg disease

Autosomal recessive albers-schonberg disease

Autosomal recessive malignant osteopetrosis caused by mutation in tcirg1

Autosomal recessive osteopetrosis 1

Autosomal recessive osteopetrosis caused by mutation in tcirg1

Infantile malignant 1

Infantile malignant osteopetrosis 1

Marble bones

Osteopetrosis, autosomal recessive 1

Osteopetrosis, autosomal recessive 1; optb1

Osteopetrosis, autosomal recessive type 1

Associated Genes (1)
 

NCBI-RefSeq:  TCIRG1   (T cell immune regulator 1, ATPase H+ transporting V0 subunit a3)

External Links:  gnomAD browser   Ensembl   GeneCards

 


Cross-references of Autosomal recessive osteopetrosis 1 OMIM GARD Orphanet NCBI-GTR NCBI-MedGen MalaCards      MeSH Annotations