Disease #01754

Official abbreviation -
Name bisphosphoglycerate mutase deficiency
OMIM ID 222800
Human Phenotype Ontology Project (HPO) HPO
Inheritance -
Individuals reported having this disease 2
Phenotype entries for this disease 2
Associated with 1 gene BPGM
Associated tissues -
Disease features -
Remarks -


Individuals

2 entries on 1 page. Showing entries 1 - 2.
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00249441 - PubMed: Rosa R 1978 Congenital Erythrocytosis M no France - - 0 - - bisphosphoglycerate mutase deficiency Bisphosphoglycerate mutase deficiency BPGM BPGM 2 1 -
00249442 - PubMed: Hoyer 2004 Congenital Erythrocytosis M yes Iran Meshadi - 0 - - bisphosphoglycerate mutase deficiency - BPGM BPGM 1 1 -
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