Disease #00250 (XLHRR (rickets, hypophosphatemic, X-linked recessive), OMIM:300554)

Official abbreviation XLHRR
Name rickets, hypophosphatemic, X-linked recessive
OMIM ID 300554
Human Phenotype Ontology Project (HPO) HPO
Inheritance X-linked recessive
Individuals reported having this disease 2
Phenotype entries for this disease 2
Associated with 1 gene CLCN5
Associated tissues -
Disease features -
Remarks -
Date created 2013-10-20 13:24:02 +02:00 (CEST)
Date last edited 2026-04-24 17:54:37 +02:00 (CEST)


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 - - - - - XLHRR - CLCN5 CLCN5 1 9 Rosa Vargas-Poussou
00025752 - PubMed: Oudet 1997 2-generation family, 4 affected males M - France - - - - - XLHRR see paper; no nephrolithiasis, no nephrocalcinos, young age at onset CLCN5 CLCN5 1 4 Johan den Dunnen
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