Hypophosphatemic rickets

Disease Term Disease ID Gene Symbol Classification References Source
AUTOSOMAL DOMINANT HYPOPHOSPHATEMIC RICKETS
89937C0342642MONDO:0008660
FGF23 Causal
11062477 12130585 12414858 19655082 21710177 23038738 23174215 28383812 9389727
ClinVar Disgenet GWAS catalog Orphanet
PHEX Causal — Disgenet
AUTOSOMAL RECESSIVE HYPOPHOSPHATEMIC BONE DISEASE
SLC34A3 Causal — ClinVar
AUTOSOMAL RECESSIVE HYPOPHOSPHATEMIC RICKETS
289176MONDO:0017324
DMP1 Unknown — GenCC Orphanet
ENPP1 Unknown — GenCC Orphanet
AUTOSOMAL RECESSIVE HYPOPHOSPHATEMIC VITAMIN D REFRACTORY RICKETS
C0342643
DMP1 Unknown — Disgenet
ENPP1 Unknown — Disgenet
FAMILIAL HYPOPHOSPHATEMIC RICKETS
C3536983MESH:D053098
CLCN5 Unknown — CTD Disgenet
PHEX Unknown
11414762 18775977 3414685 9430241
CTD Disgenet
VDR Unknown — Disgenet
HYPOPHOSPHATEMIC RICKETS
C1704375MONDO:0024300
DMP1 Causal — Disgenet
FGF23 Causal — Disgenet
PHEX Causal — Disgenet
WDR72 Causal — Disgenet
ENPP1 Unknown — Disgenet
HRAS Unknown — Disgenet
LRRC56 Unknown — Disgenet
SGK3 Unknown — Disgenet GenCC
HYPOPHOSPHATEMIC RICKETS WITH HYPERCALCIURIA, HEREDITARY
C1853271241530MESH:C562793
SLC34A1 Unknown — Disgenet
SLC34A3 Unknown — CTD Disgenet HPO
HYPOPHOSPHATEMIC RICKETS, AUTOSOMAL DOMINANT
193100MESH:C562791
FGF23 Unknown — CTD HPO
HYPOPHOSPHATEMIC RICKETS, AUTOSOMAL RECESSIVE, 1
241520C4551495MESH:C562792MONDO:0009430
DMP1 Causal
17033621 17033625
CTD ClinVar Disgenet GWAS catalog HPO
HYPOPHOSPHATEMIC RICKETS, AUTOSOMAL RECESSIVE, 2
613312C2750078MESH:C567647MONDO:0013219
ENPP1 Causal
20137772 20137773 21745613 22539483 25741938
CTD ClinVar Disgenet GWAS catalog HPO
HYPOPHOSPHATEMIC RICKETS, X-LINKED DOMINANT
C0733682307800
CLCN5 Unknown — Disgenet
PHEX Unknown — Disgenet HPO
HYPOPHOSPHATEMIC RICKETS, X-LINKED RECESSIVE
300554C1845168MONDO:0010358
CLCN5 Causal — ClinVar Disgenet HPO
PHEX Unknown — Disgenet