Total: 4312 results
28(78.4%)
CPOX
Abnormality of metabolism/homeostasis Congenital hemolytic anemia Jaundice Splenomegaly
hereditary coproporphyria (OMIM) Hereditary coproporphyria (ORDO)
Autosomal dominant inheritance Autosomal recessive inheritance
PRF1
Anemia Hypertriglyceridemia Jaundice Reticulocytopenia Splenomegaly
familial hemophagocytic lymphohistiocytosis 2 (OMIM) lymphoma, non-Hodgkin, familial (OMIM) idiopathic aplastic anemia (OMIM) Idiopathic aplastic anemia (ORDO)
Autosomal recessive inheritance
GLRX5
Anemia Hyperglycinemia Jaundice Splenomegaly
spasticity-ataxia-gait anomalies syndrome (OMIM) sideroblastic anemia 3 (OMIM) Childhood-onset spasticity with hyperglycinemia (ORDO)
PEPD
Abnormality of metabolism/homeostasis Anemia Prolonged neonatal jaundice Splenomegaly
prolidase deficiency (OMIM) Prolidase deficiency (ORDO)
HK1
Abnormality of metabolism/homeostasis Jaundice Normochromic anemia Splenomegaly
non-spherocytic hemolytic anemia due to hexokinase deficiency (OMIM) Charcot-Marie-Tooth disease type 4G (OMIM) retinitis pigmentosa 79 (OMIM) Charcot-Marie-Tooth disease type 4G (ORDO)
Autosomal recessive inheritance Autosomal dominant inheritance
IL2RG
Anemia Edema Jaundice Splenomegaly
T-B+ severe combined immunodeficiency due to gamma chain deficiency (OMIM) combined immunodeficiency, X-linked (OMIM) T-B+ severe combined immunodeficiency due to gamma chain deficiency (ORDO) Omenn syndrome (ORDO)
X-linked recessive inheritance Autosomal recessive inheritance
ATP7B
Hemolytic anemia Jaundice Proteinuria Splenomegaly
Wilson disease (OMIM) Wilson disease (ORDO)
SEC23B
Anemia of inadequate production Endopolyploidy on chromosome studies of bone marrow Jaundice Reticulocytosis Splenomegaly
congenital dyserythropoietic anemia type 2 (OMIM) Cowden syndrome 7 (OMIM) Cowden syndrome (ORDO)
LYST
Chediak-Higashi syndrome (OMIM) Chédiak-Higashi syndrome (ORDO) Attenuated Chédiak-Higashi syndrome (ORDO)
SMPD1
Hypertriglyceridemia Microcytic anemia Prolonged neonatal jaundice Splenomegaly
Niemann-Pick disease type A (OMIM) Niemann-Pick disease type B (OMIM) Niemann-Pick disease type B (ORDO)