Disease #01994 (OPTB-3 (osteopetrosis, autosomal recessive, type 3), OMIM:259730)

Official abbreviation OPTB-3
Name osteopetrosis, autosomal recessive, type 3
OMIM ID 259730
Human Phenotype Ontology Project (HPO) HPO
Inheritance -
Individuals reported having this disease 2
Phenotype entries for this disease 2
Associated with 1 gene CA2
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Individuals

2 entries on 1 page. Showing entries 1 - 2.
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00080871 - Trujillano et al., submitted no information from parents - - - - - 0 - - OPTB-3 Osteopetrosis, autosomal recessive 3, with renal tubular acidosis (OMIM:259730) CA2 CA2 1 1 Daniel Trujillano
00080918 - Trujillano et al., submitted unaffected parents - - - - - 0 - - OPTB-3 Osteopetrosis, autosomal recessive 3, with renal tubular acidosis (OMIM:259730) CA2 CA2 1 1 Daniel Trujillano
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