Disease #00250

Official abbreviation -
Name rickets, hypophosphatemic, X-linked recessive
OMIM ID 300554
Human Phenotype Ontology Project (HPO) HPO
Inheritance -
Individuals reported having this disease 2
Phenotype entries for this disease 2
Associated with 1 gene CLCN5
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Disease features -
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Individuals

2 entries on 1 page. Showing entries 1 - 2.
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00025736 - PubMed: Lloyd 1996 4-generation family, 9 affecteds - no Italy - - 0 - - rickets, hypophosphatemic, X-linked recessive - CLCN5 CLCN5 1 9 Rosa Vargas-Poussou
00025752 - PubMed: Oudet 1997 2-generation family, 4 affected males M - France - - 0 - - rickets, hypophosphatemic, X-linked recessive see paper; no nephrolithiasis, no nephrocalcinos, young age at onset CLCN5 CLCN5 1 4 Johan den Dunnen
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