|
1
|
(HPO:0001639)
|
Hypertrophic cardiomyopathy |
rare [HPO:skoehler]
|
|
|
|
137 / 7739
|
|
2
|
(HPO:0001744)
|
Splenomegaly |
|
|
|
|
337 / 7739
|
|
3
|
(HPO:0001789)
|
Hydrops fetalis |
|
|
|
|
63 / 7739
|
|
4
|
(HPO:0001923)
|
Reticulocytosis |
|
|
|
|
28 / 7739
|
|
5
|
(HPO:0002240)
|
Hepatomegaly |
|
|
|
|
467 / 7739
|
|
6
|
(HPO:0002904)
|
Hyperbilirubinemia |
|
|
|
|
32 / 7739
|
|
7
|
(HPO:0004322)
|
Short stature |
|
|
|
|
1232 / 7739
|
|
8
|
(HPO:0010972)
|
Anemia of inadequate production |
|
|
|
|
10 / 7739
|
|
9
|
(HPO:0012132)
|
Erythroid hyperplasia |
|
|
|
|
4 / 7739
|
|
10
|
(HPO:0001903)
|
Anemia |
|
|
|
|
289 / 7739
|
|
11
|
(OMIM)
|
Nucleated peripheral red cells |
|
|
|
|
1 / 7739
|
|
12
|
(OMIM)
|
Circulating orthochromatic erythroblasts |
|
|
|
|
1 / 7739
|
|
13
|
(OMIM)
|
Decreased expression of CD44 and AQP1 on red cells |
|
|
|
|
1 / 7739
|
|
14
|
(OMIM)
|
Increased fetal hemoglobin |
|
|
|
|
5 / 7739
|
|
15
|
(OMIM)
|
Erythroblasts show atypical cytoplasmic inclusions |
|
|
|
|
1 / 7739
|
|
16
|
(HPO:0000006)
|
Autosomal dominant inheritance |
|
|
|
|
2518 / 7739
|
|
17
|
(HPO:0003577)
|
Congenital onset |
|
|
|
|
133 / 7739
|