Disease #06886 (HR (hypophosphataemic rickets))

Official abbreviation HR
Name hypophosphataemic rickets
OMIM ID -
Inheritance -
Individuals reported having this disease 672
Phenotype entries for this disease 651
Associated with 3 genes CLCN5, FGF23, PHEX
Associated tissues -
Disease features -
Remarks -


Individuals

672 entries on 7 pages. Showing entries 1 - 100.
Legend   How to query   « First ‹ Prev     1 2 3 4 5 6 7     Next › Last »

AscendingIndividual ID     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

Country     

Population     

Age at death     

VIP     

Data_av     

Treatment     

Disease     

Phenotype details     

Genes screened

Variants in genes

Variants     

Panel size     

Owner     
00397006 patient PubMed: Canete 2014 2-generation family, affected twin sisters, unaffected non-carrier parents F - Spain - - 0 - - HR see paper; ..., hypophosphataemic rickets, short stature, bilateral genu varum tibias PHEX PHEX 1 2 Johan den Dunnen
00397008 patient PubMed: Chen 2019 4-generation family, 7 affected (5F, 2M) F;M - China - - 0 - - HR see paper; ... PHEX PHEX 1 7 Johan den Dunnen
00397009 family PubMed: Fang 2016 2-generation family, 6 affected (4F, 2M) F;M - China - - 0 - - HR see paper; ... PHEX PHEX 1 6 Johan den Dunnen
00397010 family PubMed: Fratzl-Zelman 2020 3-generation family, 4 affected (2F, 2M) F;M - Austria - - 0 - - HR see paper; ... PHEX PHEX 1 4 Johan den Dunnen
00397011 patient PubMed: Fratzl-Zelman 2020 - M - Austria - - 0 - - HR see paper; ... PHEX PHEX 1 1 Johan den Dunnen
00397012 family PubMed: Fratzl-Zelman 2020 2-generation family, 3 affected (mother, son, daughter) F;M - Austria - - 0 - - HR see paper; ... PHEX PHEX 1 3 Johan den Dunnen
00397013 family PubMed: Huang 2019 4-generation family, 8 affected (4F, 4M) F;M - China - - 0 - - HR see paper; ... PHEX PHEX 1 8 Johan den Dunnen
00397014 family PubMed: Jo 2020 4-generation family, 9 affected (4F, 5M) F;M - Korea - - 0 - - HR see paper; ... PHEX PHEX 1 9 Johan den Dunnen
00397015 family PubMed: Kawahara 2015 3-generation family, 3 affected (grandmother, father, daughter) F;M - Japan - - 0 - - HR see paper; ... PHEX PHEX 1 3 Johan den Dunnen
00397016 - PubMed: Zhang 2019 - - - China - - 0 - - HR - PHEX PHEX 1 1 Johan den Dunnen
00397017 - PubMed: Zhang 2019 - - - China - - 0 - - HR - PHEX PHEX 1 1 Johan den Dunnen
00397018 - PubMed: Zhang 2019 - - - China - - 0 - - HR - PHEX PHEX 1 1 Johan den Dunnen
00397019 - PubMed: Zhang 2019 - - - China - - 0 - - HR - PHEX PHEX 1 1 Johan den Dunnen
00397020 - PubMed: Zhang 2019 - - - China - - 0 - - HR - PHEX PHEX 1 1 Johan den Dunnen
00397021 - PubMed: Zhang 2019 - - - China - - 0 - - HR - PHEX PHEX 2 1 Johan den Dunnen
00397022 - PubMed: Zhang 2019 - - - China - - 0 - - HR - PHEX PHEX 1 1 Johan den Dunnen
00397023 - PubMed: Zhang 2019 - - - China - - 0 - - HR - PHEX PHEX 1 1 Johan den Dunnen
00397024 - PubMed: Zhang 2019 - - - China - - 0 - - HR - PHEX PHEX 1 1 Johan den Dunnen
00397025 - PubMed: Zhang 2019 - - - China - - 0 - - HR - PHEX PHEX 1 1 Johan den Dunnen
00397026 - PubMed: Zhang 2019 - - - China - - 0 - - HR - PHEX PHEX 1 1 Johan den Dunnen
00397027 - PubMed: Zhang 2019 - - - China - - 0 - - HR - PHEX PHEX 1 1 Johan den Dunnen
00397028 - PubMed: Zhang 2019 - - - China - - 0 - - HR - PHEX PHEX 1 1 Johan den Dunnen
00397029 - PubMed: Zhang 2019 - - - China - - 0 - - HR - PHEX PHEX 1 1 Johan den Dunnen
00397030 - PubMed: Zhang 2019 - - - China - - 0 - - HR - PHEX PHEX 1 1 Johan den Dunnen
00397031 - PubMed: Zhang 2019 - - - China - - 0 - - HR - PHEX PHEX 1 1 Johan den Dunnen
00397032 - PubMed: Zhang 2019 - - - China - - 0 - - HR - PHEX PHEX 1 1 Johan den Dunnen
00397033 - PubMed: Zhang 2019 - - - China - - 0 - - HR - PHEX PHEX 1 1 Johan den Dunnen
00397034 - PubMed: Zhang 2019 - - - China - - 0 - - HR - PHEX PHEX 1 1 Johan den Dunnen
00397035 - PubMed: Zhang 2019 - - - China - - 0 - - HR - PHEX PHEX 1 1 Johan den Dunnen
00397036 - PubMed: Zhang 2019 - - - China - - 0 - - HR - PHEX PHEX 1 1 Johan den Dunnen
00397037 - PubMed: Zhang 2019 - - - China - - 0 - - HR - PHEX PHEX 1 1 Johan den Dunnen
00397038 - PubMed: Zhang 2019 - - - China - - 0 - - HR - PHEX PHEX 1 1 Johan den Dunnen
00397039 - PubMed: Zhang 2019 - - - China - - 0 - - HR - PHEX PHEX 1 1 Johan den Dunnen
00397040 - PubMed: Zhang 2019 - - - China - - 0 - - HR - PHEX PHEX 1 1 Johan den Dunnen
00397041 - PubMed: Zhang 2019 - - - China - - 0 - - HR - PHEX PHEX 1 1 Johan den Dunnen
00397042 - PubMed: Zhang 2019 - - - China - - 0 - - HR - PHEX PHEX 1 1 Johan den Dunnen
00397043 - PubMed: Zhang 2019 - - - China - - 0 - - HR - PHEX PHEX 1 1 Johan den Dunnen
00397044 - PubMed: Zhang 2019 - - - China - - 0 - - HR - PHEX PHEX 1 1 Johan den Dunnen
00397140 - PubMed: Zhang 2019 - - - China - - 0 - - HR - PHEX PHEX 1 1 Johan den Dunnen
00397141 - PubMed: Zhang 2019 - - - China - - 0 - - HR - PHEX PHEX 1 1 Johan den Dunnen
00397142 - PubMed: Zhang 2019 - - - China - - 0 - - HR - PHEX PHEX 1 1 Johan den Dunnen
00397143 - PubMed: Zhang 2019 - - - China - - 0 - - HR - PHEX PHEX 1 1 Johan den Dunnen
00397144 - PubMed: Zhang 2019 - - - China - - 0 - - HR - PHEX PHEX 1 1 Johan den Dunnen
00397145 - PubMed: Zhang 2019 - - - China - - 0 - - HR - PHEX PHEX 2 1 Johan den Dunnen
00397146 - PubMed: Zhang 2019 - - - China - - 0 - - HR - PHEX PHEX 1 1 Johan den Dunnen
00397147 - PubMed: Zhang 2019 - - - China - - 0 - - HR - PHEX PHEX 1 1 Johan den Dunnen
00397148 - PubMed: Zhang 2019 - - - China - - 0 - - HR - PHEX PHEX 1 1 Johan den Dunnen
00397149 - PubMed: Zhang 2019 - - - China - - 0 - - HR - PHEX PHEX 1 1 Johan den Dunnen
00397150 - PubMed: Zhang 2019 - - - China - - 0 - - HR - PHEX PHEX 1 1 Johan den Dunnen
00397151 - PubMed: Zhang 2019 - - - China - - 0 - - HR - PHEX PHEX 1 1 Johan den Dunnen
00397152 - PubMed: Zhang 2019 - - - China - - 0 - - HR - PHEX PHEX 1 1 Johan den Dunnen
00397153 - PubMed: Zhang 2019 - - - China - - 0 - - HR - PHEX PHEX 1 1 Johan den Dunnen
00397154 - PubMed: Zhang 2019 - - - China - - 0 - - HR - PHEX PHEX 1 1 Johan den Dunnen
00397155 - PubMed: Zhang 2019 - - - China - - 0 - - HR - PHEX PHEX 1 1 Johan den Dunnen
00397156 - PubMed: Zhang 2019 - - - China - - 0 - - HR - PHEX PHEX 1 1 Johan den Dunnen
00397157 - PubMed: Zhang 2019 - - - China - - 0 - - HR - PHEX PHEX 1 1 Johan den Dunnen
00397158 - PubMed: Zhang 2019 - - - China - - 0 - - HR - PHEX PHEX 1 1 Johan den Dunnen
00397159 - PubMed: Zhang 2019 - - - China - - 0 - - HR - PHEX PHEX 1 1 Johan den Dunnen
00397160 - PubMed: Zhang 2019 - - - China - - 0 - - HR - PHEX PHEX 1 1 Johan den Dunnen
00397161 - PubMed: Zhang 2019 - - - China - - 0 - - HR - PHEX PHEX 1 1 Johan den Dunnen
00397162 - PubMed: Zhang 2019 - - - China - - 0 - - HR - PHEX PHEX 1 1 Johan den Dunnen
00397163 - PubMed: Zhang 2019 - - - China - - 0 - - HR - PHEX PHEX 1 1 Johan den Dunnen
00397164 - PubMed: Zhang 2019 - - - China - - 0 - - HR - PHEX PHEX 1 1 Johan den Dunnen
00397165 - PubMed: Zhang 2019 - - - China - - 0 - - HR - PHEX PHEX 1 1 Johan den Dunnen
00397166 - PubMed: Zhang 2019 - - - China - - 0 - - HR - PHEX PHEX 1 1 Johan den Dunnen
00397167 - PubMed: Zhang 2019 - - - China - - 0 - - HR - PHEX PHEX 1 1 Johan den Dunnen
00397168 - PubMed: Zhang 2019 - - - China - - 0 - - HR - PHEX PHEX 1 1 Johan den Dunnen
00397169 - PubMed: Zhang 2019 - - - China - - 0 - - HR - PHEX - 0 1 Johan den Dunnen
00397170 - PubMed: Zhang 2019 - - - China - - 0 - - HR - PHEX PHEX 1 1 Johan den Dunnen
00397171 - PubMed: Zhang 2019 - - - China - - 0 - - HR - PHEX PHEX 1 1 Johan den Dunnen
00397172 - PubMed: Zhang 2019 - - - China - - 0 - - HR - PHEX PHEX 1 1 Johan den Dunnen
00397173 - PubMed: Zhang 2019 - - - China - - 0 - - HR - PHEX PHEX 1 1 Johan den Dunnen
00397174 - PubMed: Zhang 2019 - - - China - - 0 - - HR - PHEX PHEX 1 1 Johan den Dunnen
00397175 - PubMed: Zhang 2019 - - - China - - 0 - - HR - PHEX PHEX 1 1 Johan den Dunnen
00397176 - PubMed: Zhang 2019 - - - China - - 0 - - HR - PHEX PHEX 1 1 Johan den Dunnen
00397177 - PubMed: Zhang 2019 - - - China - - 0 - - HR - PHEX PHEX 1 1 Johan den Dunnen
00397178 - PubMed: Zhang 2019 - - - China - - 0 - - HR - PHEX PHEX 1 1 Johan den Dunnen
00397179 - PubMed: Zhang 2019 - - - China - - 0 - - HR - PHEX PHEX 1 1 Johan den Dunnen
00397180 - PubMed: Zhang 2019 - - - China - - 0 - - HR - PHEX PHEX 1 1 Johan den Dunnen
00397181 - PubMed: Zhang 2019 - - - China - - 0 - - HR - PHEX PHEX 1 1 Johan den Dunnen
00397182 - PubMed: Zhang 2019 - - - China - - 0 - - HR - PHEX PHEX 1 1 Johan den Dunnen
00397183 - PubMed: Zhang 2019 - - - China - - 0 - - HR - PHEX PHEX 1 1 Johan den Dunnen
00397184 - PubMed: Zhang 2019 - - - China - - 0 - - HR - PHEX PHEX 1 1 Johan den Dunnen
00397185 - PubMed: Zhang 2019 - - - China - - 0 - - HR - PHEX PHEX 1 1 Johan den Dunnen
00397186 - PubMed: Zhang 2019 - - - China - - 0 - - HR - PHEX PHEX 1 1 Johan den Dunnen
00397187 - PubMed: Zhang 2019 - - - China - - 0 - - HR - PHEX PHEX 1 1 Johan den Dunnen
00397188 - PubMed: Zhang 2019 - - - China - - 0 - - HR - PHEX PHEX 1 1 Johan den Dunnen
00397189 - PubMed: Zhang 2019 - - - China - - 0 - - HR - PHEX PHEX 1 1 Johan den Dunnen
00397190 - PubMed: Zhang 2019 - - - China - - 0 - - HR - PHEX PHEX 1 1 Johan den Dunnen
00397191 - PubMed: Zhang 2019 - - - China - - 0 - - HR - PHEX PHEX 1 1 Johan den Dunnen
00397192 - PubMed: Zhang 2019 - - - China - - 0 - - HR - PHEX PHEX 1 1 Johan den Dunnen
00397193 - PubMed: Zhang 2019 - - - China - - 0 - - HR - PHEX PHEX 1 1 Johan den Dunnen
00397194 - PubMed: Zhang 2019 - - - China - - 0 - - HR - PHEX PHEX 1 1 Johan den Dunnen
00397195 - PubMed: Zhang 2019 - - - China - - 0 - - HR - PHEX PHEX 1 1 Johan den Dunnen
00397196 - PubMed: Zhang 2019 - - - China - - 0 - - HR - PHEX PHEX 1 1 Johan den Dunnen
00397197 - PubMed: Zhang 2019 - - - China - - 0 - - HR - PHEX PHEX 1 1 Johan den Dunnen
00397198 - PubMed: Zhang 2019 - - - China - - 0 - - HR - PHEX PHEX 1 1 Johan den Dunnen
00397199 - PubMed: Zhang 2019 - - - China - - 0 - - HR - PHEX PHEX 1 1 Johan den Dunnen
00397200 - PubMed: Zhang 2019 - - - China - - 0 - - HR - PHEX PHEX 1 1 Johan den Dunnen
00397201 - PubMed: Zhang 2019 - - - China - - 0 - - HR - PHEX PHEX 1 1 Johan den Dunnen
Legend   How to query   « First ‹ Prev     1 2 3 4 5 6 7     Next › Last »