2
1
|
1
|
|
HLA + sickle cell anemia
|
HBB
|
AR
|
18
|
29
|
18
|
27
|
12
|
8
|
|
HLA + thrombocythemia 1 (THCYT1)
|
SH2B3
|
AR
|
1
|
2
|
2
|
2
|
2
|
1
|
|
HLA + thrombotic thrombocytopenic purpura, congenital (TTP)
|
ADAMTS13
|
AR
|
1
|
2
|
2
|
4
|
1
|
1
|
|
HLA + Wiskott–Aldrich syndrome (WAS)
|
WAS
|
XL
|
1
|
1
|
0
|
0
|
0
|
0
|
|
HLA immunodeficiency with hyper‐IgM, type 1 (HIGM1)
|
CD40LG
|
XL
|
8
|
15
|
9
|
13
|
5
|
4
|
|
HLA + pyruvate kinase deficiency of red cells
|
PKLR
|
AD
|
1
|
2
|
1
|
1
|
0
|
0
|
|
Holoprosencephaly 2 (HPE2)
|
SIX3
|
AD
|
1
|
1
|
1
|
2
|
0
|
0
|
|
Holt–Oram syndrome (HOS)
|
TBX5
|
AD
|
5
|
8
|
8
|
9
|
4
|
4
|
|
Homocystinuria due to cystathionine beta‐synthase deficiency
|
CBS
|
AR
|
4
|
6
|
4
|
9
|
3
|
3
|
|
Homocystinuria due to deficiency of n(5,10)‐methylenetetrahydrofolate reductase activity
|
MTHFR
|
AR
|
1
|
1
|
1
|
2
|
0
|
0
|
|
Homocystinuria‐megaloblastic anemia, cblG complementation type (HMAG)
|
MTR
|
AR
|
1
|
2
|
1
|
1
|
0
|
0
|
|
Human leukocyte antigens
|
HLA
|
AR
|
60
|
119
|
73
|
108
|
25
|
20
|
|
Huntington disease (HD)
|
HTT
|
AD
|
141
|
209
|
171
|
267
|
107
|
97
|
|
Hurler syndrome
|
IDUA
|
AR
|
7
|
10
|
8
|
13
|
3
|
3
|
|
Hyaline fibromatosis syndrome (HFS)
|
ANTXR2
|
AR
|
1
|
1
|
1
|
2
|
1
|
1
|
|
Hydrocephalus due to congenital stenosis of aqueduct of Sylvius (HSAS)
|
L1CAM
|
XL
|
11
|
16
|
16
|
34
|
8
|
6
|
|
Hydroxyacyl‐CoA dehydrogenase/3‐ketoacyl‐CoA thiolase/enoyl‐CoA hydratase, alpha subunit (HADHA)
|
HADHA
|
AR
|
4
|
4
|
4
|
13
|
3
|
3
|
|
Hyperinsulinemic hypoglycemia, familial, 1 (HHF1)
|
ABCC8
|
AR
|
2
|
11
|
8
|
19
|
4
|
2
|
|
Hyperuricemic nephropathy, familial juvenile, 1 (HNFJ1)
|
UMOD
|
AD
|
1
|
1
|
1
|
1
|
0
|
|
