|
Granulomatous disease, chronic, X‐linked (CDGX)
|
CYBB
|
XL
|
4
|
5
|
4
|
6
|
3
|
2
|
|
Greig cephalopolysyndactyly syndrome (GCPS)
|
GLI3
|
AD
|
1
|
1
|
2
|
2
|
0
|
0
|
|
Harel–Yoon syndrome (HAYOS)
|
ATAD3A
|
AR
|
1
|
3
|
3
|
3
|
1
|
1
|
|
Hemoglobin‐alpha locus 1 (HBA1)
|
HBA
|
AR
|
14
|
23
|
21
|
38
|
10
|
10
|
|
Hemoglobin‐beta locus (HBB)
|
HBB
|
AR
|
301
|
470
|
402
|
762
|
192
|
161
|
|
Hemophagocytic lymphohistiocytosis, familial, 2 (FHL2)
|
PRF1
|
AR
|
1
|
1
|
0
|
0
|
0
|
0
|
|
Hemophagocytic lymphohistiocytosis, familial, 3 (FHL3)
|
UNC13D
|
AR
|
3
|
4
|
4
|
5
|
4
|
3
|
|
Hemophilia A (HEMA)
|
F8
|
XL
|
62
|
103
|
88
|
145
|
50
|
42
|
|
Hemophilia B (HEMB)
|
F9
|
XL
|
5
|
6
|
6
|
9
|
6
|
6
|
|
Hereditary leiomyomatosis and renal cell cancer (HLRCC)
|
FH
|
AD
|
1
|
1
|
1
|
2
|
0
|
0
|
|
Hereditary motor and sensory neuropathy, type IIC (HMSN2C)
|
TRPV4
|
AD
|
1
|
1
|
2
|
2
|
1
|
1
|
|
Hermansky–Pudlak syndrome 1 (HPS1)
|
HPS1
|
AR
|
1
|
4
|
3
|
6
|
2
|
2
|
|
HLA + myelodysplastic syndrome (MDS)
|
GATA2
|
AD
|
1
|
2
|
1
|
1
|
1
|
1
|
|
HLA + Shwachman–Diamond syndrome (SDS)
|
SBDS
|
AR
|
4
|
10
|
3
|
4
|
2
|
2
|
|
HLA + adenosine deaminase deficiency (ADA)
|
ADA
|
AR
|
1
|
1
|
1
|
1
|
1
|
1
|
|
HLA + adrenoleukodystrophy
|
ABCD1
|
XL
|
3
|
7
|
2
|
2
|
1
|
1
|
|
HLA + Diamond–Blackfan anemia 1 (DBA1)
|
RPS19,
|
AD
|
6
|
13
|
10
|
15
|
5
|
5
|
|
HLA + Diamond–Blackfan anemia 2 (DBA2)
|
RPS20
|
AD
|
1
|
1
|
1
|
1
|
1
|
1
|
|
HLA + Diamond–Blackfan anemia 3 (DBA3)
|
RPS 24
|
AD
|
1
|
1
|
1
|
1
|
0
|
0
|
|
HLA + Diamond–Blackfan anemia 5 (DBA5)
|
RPL35A
|
AD
|
1
|
1
|
