Vitamin d dependent rickets

Disease Term Disease ID Gene Symbol Classification References Source
VITAMIN D HYDROXYLATION-DEFICIENT RICKETS, TYPE 1A
264700MESH:C562688
CYP27B1 Unknown — CTD HPO
VITAMIN D HYDROXYLATION-DEFICIENT RICKETS, TYPE 1B
600081C1838657MESH:C564005MONDO:0010810
CYP2R1 Causal
15128933 22855339 24019477 245738 250936 25942481 276994 282630 28548312 30777056 33715104
CTD ClinVar Disgenet GWAS catalog HPO
PDE3B Unknown — Disgenet
VITAMIN D-DEPENDENT RICKETS
C0221468
CYP27B1 Unknown — Disgenet
VDR Unknown — Disgenet
VITAMIN D-DEPENDENT RICKETS TYPE II WITH ALOPECIA
VDR Causal — ClinVar
VITAMIN D-DEPENDENT RICKETS, TYPE 1
C0268689MONDO:0009924
CYP27B1 Causal — Disgenet GenCC
CYP2R1 Causal — Disgenet GenCC
PDE3B Unknown — Disgenet
VITAMIN D-DEPENDENT RICKETS, TYPE 1A
MONDO:0020723
CYP27B1 Causal
17488797 22443290 24818008 27353739 9837822
ClinVar Disgenet
VITAMIN D-DEPENDENT RICKETS, TYPE 2
MONDO:0019642
VDR Unknown
9284761
GWAS catalog
VITAMIN D-DEPENDENT RICKETS, TYPE 2A
C0342646277440MESH:C562794MONDO:0010186
PRSS1 Unknown — Disgenet
TRB Unknown — Disgenet
VDR Unknown
8961271 2557627 3024987 8675579 8392085 11564167 2558018 2177843 9360557 2849209 17970811 9005998
CTD Disgenet GWAS catalog HPO
VITAMIN D-DEPENDENT RICKETS, TYPE 3
619073C5436733MONDO:0033640
CYP3A4 Causal — ClinVar Disgenet GenCC HPO