ANEMIA, CONGENITAL DYSERYTHROPOIETIC, TYPE Ib

General Information (adopted from Orphanet):

Synonyms, Signs:
Number of Symptoms 13
OrphanetNr:
OMIM Id: 615631
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance:
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
 (HPO:0001159) Syndactyly rare [HPO:skoehler] 140 / 7739
2
 (HPO:0002240) Hepatomegaly 467 / 7739
3
 (HPO:0000952) Jaundice 105 / 7739
4
 (HPO:0001744) Splenomegaly 337 / 7739
5
 (HPO:0004322) Short stature rare [HPO:skoehler] 1232 / 7739
6
 (HPO:0001792) Small nail rare [HPO:skoehler] 55 / 7739
7
 (HPO:0000980) Pallor 52 / 7739
8
 (HPO:0004447) Poikilocytosis 16 / 7739
9
 (HPO:0012132) Erythroid hyperplasia 4 / 7739
10
 (HPO:0010972) Anemia of inadequate production 10 / 7739
11
 (HPO:0001923) Reticulocytosis 28 / 7739
12
 (HPO:0011273) Anisocytosis 8 / 7739
13
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: