Hoyeraal hreidarsson syndrome

Disease Term Disease ID Gene Symbol Classification References Source
HOYERAAL HREIDARSSON SYNDROME
MESH:C536068
TERT Unknown
17785587
CTD
HOYERAAL-HREIDARSSON SYNDROME
3322C1846142MONDO:0018045
DKC1 Causal
33734615
ClinVar Disgenet GenCC Orphanet
TERT Causal
17785587 23335200
Disgenet GWAS catalog Orphanet
ACD Unknown
25233904
Disgenet GWAS catalog Orphanet
DCLRE1B Unknown — Disgenet
PARN Unknown
25893599
Disgenet Orphanet
POT1 Unknown — Disgenet
RTEL1 Unknown
23329068 23453664
Disgenet Orphanet
TINF2 Unknown
18669893 20301779 21199492 22078571
Disgenet Orphanet