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Gene: Mpig6b MGI:2146995

Gene Summary

Name:

megakaryocyte and platelet inhibitory receptor G6b

Synonyms:

AU023871, G6b

Order Alleles

IMPC Data Collections

Body Weight Measurements
No Embryo Imaging Data
Viability Data

IMPC Phenotype Summary

Significant

Not Significant

Not tested

View all our phenotype data below

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

Phenotype	Allele	Zyg	Life Stage	P Value
small testis	Mpig6b^{tm1.1(KOMP)Vlcg}	HOM	Early adult	0.00
increased circulating alkaline phosphatase level	Mpig6b^{tm1.1(KOMP)Vlcg}	HOM	Early adult	9.15×10^-20
increased spleen weight	Mpig6b^{tm1.1(KOMP)Vlcg}	HOM	Early adult	2.22×10^-10
enlarged spleen	Mpig6b^{tm1.1(KOMP)Vlcg}	HOM	Early adult	0.00
abnormal testis morphology	Mpig6b^{tm1.1(KOMP)Vlcg}	HOM	Early adult	0.00
decreased circulating phosphate level	Mpig6b^{tm1.1(KOMP)Vlcg}	HOM	Early adult	4.94×10^-07
thrombocytopenia	Mpig6b^{tm1.1(KOMP)Vlcg}	HOM	Early adult	3.07×10^-05
decreased bronchoconstrictive response	Mpig6b^{tm1.1(KOMP)Vlcg}	HOM	Early adult	6.00×10^-08
abnormal spleen morphology	Mpig6b^{tm1.1(KOMP)Vlcg}	HOM	Early adult	0.00
increased pulmonary respiratory rate	Mpig6b^{tm1.1(KOMP)Vlcg}	HOM	Early adult	7.75×10^-05
increased mean platelet volume	Mpig6b^{tm1.1(KOMP)Vlcg}	HOM	Early adult	1.60×10^-07

Download data as: TSV XLS

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lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

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X-ray

XRay Images Skull Lateral Orientation

10 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

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X-ray

XRay Images Whole Body Lateral Orientation

10 Images

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X-ray

XRay Images Forepaw

10 Images

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X-ray

XRay Images Hind Leg and Hip

10 Images

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Histopathology

Images

2 Images

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Human diseases caused by Mpig6b mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

Human diseases associated with Mpig6b (1 diseases)
Human diseases predicted to be associated with Mpig6b (980 diseases)

The table below shows human diseases associated to Mpig6b by orthology or direct annotation.

Disease	Similarity of phenotypes	Matching phenotypes	Source
Thrombocytopenia, Anemia, And Myelofibrosis		Anisopoikilocytosis, Anemia, Myelofibrosis, Thrombocytopenia, Splenomegaly	OMIM:617441

The table below shows human diseases predicted to be associated to Mpig6b by phenotypic similarity.

Disease	Matching phenotypes	Source
Gray Platelet Syndrome	Abnormal bleeding, Impaired thrombin-induced platelet aggregation, Myelofibrosis, Abnormal number...	OMIM:139090
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome	Abnormal bleeding, Anemia, Abnormal platelet function, Thrombocytopenia, Splenomegaly, Abnormal h...	ORPHA:231393
Bleeding Disorder, Platelet-Type, 24	Platelet anisocytosis, Abnormal bleeding, Impaired epinephrine-induced platelet aggregation, Impa...	OMIM:619271
Thrombocytopenia 7	Post-partum hemorrhage, Impaired ADP-induced platelet aggregation, Reduced platelet alpha granule...	OMIM:619130
Bleeding Disorder, Platelet-Type, 17	Abnormal bleeding, Gastrointestinal hemorrhage, Impaired epinephrine-induced platelet aggregation...	OMIM:187900
Bleeding Disorder, Platelet-Type, 25	Excessive bleeding from superficial cuts, Post-partum hemorrhage, Spontaneous, recurrent epistaxi...	OMIM:620486
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss	Abnormal bleeding, Neutrophil inclusion bodies, Giant platelets, Impaired epinephrine-induced pla...	OMIM:155100
Thrombocytopenia, Anemia, And Myelofibrosis	Anisopoikilocytosis, Anemia, Myelofibrosis, Thrombocytopenia, Splenomegaly	OMIM:617441
Platelet Glycoprotein Iv Deficiency	Prolonged bleeding time, Thrombocytopenia, Giant platelets, Abnormal bleeding	OMIM:608404
Bleeding Disorder, Platelet-Type, 16	Platelet anisocytosis, Abnormal bleeding, Giant platelets, Anemia, Impaired platelet aggregation,...	OMIM:187800
Thrombocytopenia With Beta-Thalassemia, X-Linked	Petechiae, Reticulocytosis, Reduced platelet alpha granules, Increased mean platelet volume, Thro...	OMIM:314050
Bernard-Soulier Syndrome	Purpura, Abnormal bleeding, Giant platelets, Gastrointestinal hemorrhage, Gingival bleeding, Meno...	OMIM:231200
Bleeding Disorder, Platelet-Type, 22	Gastrointestinal hemorrhage, Excessive bleeding from superficial cuts, Impaired ADP-induced plate...	OMIM:618462
Glanzmann Thrombasthenia 1	Gastrointestinal hemorrhage, Purpura, Impaired epinephrine-induced platelet aggregation, Impaired...	OMIM:273800
Bleeding Disorder, Platelet-Type, 15	Platelet anisocytosis, Impaired clot retraction, Impaired ADP-induced platelet aggregation, Incre...	OMIM:615193
Deafness, Autosomal Dominant 1, With Or Without Thrombocytopenia	Impaired platelet aggregation, Post-partum hemorrhage, Menorrhagia, Thrombocytopenia, Macrothromb...	OMIM:124900
Thrombocythemia 1	Impaired epinephrine-induced platelet aggregation, Impaired ADP-induced platelet aggregation, Imp...	OMIM:187950
Platelet Signal Processing Defect	Abnormal bleeding, Impaired epinephrine-induced platelet aggregation, Impaired ADP-induced platel...	OMIM:173590
Ghosal Hematodiaphyseal Dysplasia	Increased bone mineral density, Myelofibrosis, Bone marrow hypocellularity, Thrombocytopenia, Leu...	OMIM:231095
Thrombocytopenia 9	Abnormal bleeding, Thrombocytopenia, Abnormal platelet aggregation	OMIM:620478
Bleeding Disorder, Platelet-Type, 11	Abnormal platelet count, Impaired collagen-induced platelet aggregation, Menorrhagia, Epistaxis, ...	OMIM:614201
Glanzmann Thrombasthenia 2	Abnormal bleeding, Impaired epinephrine-induced platelet aggregation, Impaired clot retraction, D...	OMIM:619267
Thrombocytopenia 6	Abnormal bleeding, Bone marrow hypercellularity, Spontaneous, recurrent epistaxis, Myelofibrosis,...	OMIM:616937
Acute Panmyelosis With Myelofibrosis	Abnormal megakaryocyte morphology, Bone marrow hypercellularity, Acute myeloid leukemia, Increase...	ORPHA:86843
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant	Impaired ristocetin-induced platelet aggregation, Petechiae, Gingival bleeding, Impaired ADP-indu...	OMIM:153670
Myelofibrosis	Purpura, Hepatomegaly, Hemophagocytosis, Myeloproliferative disorder, Myelofibrosis, Splenomegaly...	OMIM:254450
Slc35A1-Cdg	Abnormal megakaryocyte morphology, Abnormal bleeding, Giant platelets, Abnormal platelet granules...	ORPHA:238459
Macrothrombocytopenia, Isolated, 1, Autosomal Dominant	Macrothrombocytopenia, Impaired platelet aggregation	OMIM:613112
Bleeding Disorder, Platelet-Type, 13, Susceptibility To	Abnormal platelet count, Impaired thromboxane A2 agonist-induced platelet aggregation, Ecchymosis...	OMIM:614009
Von Willebrand Disease, Platelet-Type	Prolonged bleeding time, Intermittent thrombocytopenia	OMIM:177820
Bleeding Disorder, Platelet-Type, 21	Abnormal bleeding, Impaired platelet aggregation, Impaired ADP-induced platelet aggregation, Incr...	OMIM:617443
Giant platelet syndrome with thrombocytopenia	Gastrointestinal hemorrhage, Giant platelets, Thrombocytopenia, Bruising susceptibility, Prolonge...	OMIM:137560
Immune Thrombocytopenia	Abnormal bleeding, Thrombocytopenia	OMIM:188030
Neutropenia, Severe Congenital, 5, Autosomal Recessive	Enlarged kidney, Hepatomegaly, Anemia, Increased circulating antibody level, Thrombocytopenia, Sp...	OMIM:615285
Immunodeficiency 98 With Autoinflammation, X-Linked	Autoimmune hemolytic anemia, Hepatomegaly, Hemophagocytosis, Lymphadenopathy, B lymphocytopenia, ...	OMIM:301078
Essential Thrombocythemia	Acute leukemia, Abnormal megakaryocyte morphology, Megakaryocyte nucleus hyperlobulation, Abnorma...	ORPHA:3318
Platelet Disorder, Undefined	Impaired platelet aggregation, Prolonged bleeding time, Abnormal bleeding, Thrombocytopenia	OMIM:173420
Tafro Syndrome	Hepatomegaly, Anemia, Lymphadenopathy, Myelofibrosis, Leukocytosis, Ascites, Thrombocytopenia, Sp...	ORPHA:457077
Athrombia, Essential	Impaired platelet aggregation, Prolonged bleeding time, Abnormal bleeding, Impaired platelet adhe...	OMIM:209050
Von Willebrand Disease, Type 3	Abnormal bleeding, Impaired platelet aggregation, Menorrhagia, Joint hemorrhage, Thrombocytopenia...	OMIM:277480
Ataxia-Pancytopenia Syndrome	Pancytopenia, Abnormal macrophage morphology, Decreased circulating antibody level, Abnormal plat...	ORPHA:2585
Myh9-Related Disease	Neutrophil inclusion bodies, Giant platelets, Spontaneous, recurrent epistaxis, Increased mean pl...	ORPHA:182050
Leukocyte Adhesion Deficiency, Type Iii	Osteopetrosis, Hepatomegaly, Abnormal lymph node morphology, Anemia, Abnormal bleeding, Petechiae...	OMIM:612840
Bleeding Disorder, Platelet-Type, 18	Impaired epinephrine-induced platelet aggregation, Impaired ADP-induced platelet aggregation, Men...	OMIM:615888
Bernard-Soulier Syndrome	Abnormal megakaryocyte morphology, Hematemesis, Gastrointestinal hemorrhage, Spontaneous hematoma...	ORPHA:274
Primary Myelofibrosis	Abnormal megakaryocyte morphology, Abnormal bleeding, Hepatomegaly, Anemia, Thrombocytosis, Lymph...	ORPHA:824
Diaph1-Related Sensorineural Hearing Loss-Thrombocytopenia Syndrome	Increased mean platelet volume, Thrombocytopenia, Iron deficiency anemia, Neutropenia	ORPHA:494444
Bleeding Disorder, Platelet-Type, 9	Bruising susceptibility, Thrombocytopenia	OMIM:614200
Thrombocytopenia 4	Thrombocytopenia, Abnormal platelet volume	OMIM:612004
Moyamoya Disease With Early-Onset Achalasia	Thrombocytopenia, Abnormal platelet aggregation	ORPHA:401945
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities	Macrocytic anemia, Impaired platelet aggregation, Poikilocytosis, Bone marrow hypocellularity, El...	OMIM:300835
Gray Platelet Syndrome	Abnormal bleeding, Thrombocytopenia, Splenomegaly, Epistaxis, Bruising susceptibility, Abnormalit...	ORPHA:721
Macrothrombocytopenia, Isolated, 2, Autosomal Dominant	Macrothrombocytopenia	OMIM:619840
Hermansky-Pudlak Syndrome 3	Abnormal bleeding, Impaired platelet aggregation, Spontaneous, recurrent epistaxis, Gingival blee...	OMIM:614072
Bleeding Disorder, Platelet-Type, 8	Abnormal bleeding, Impaired ADP-induced platelet aggregation, Ecchymosis, Epistaxis, Persistent b...	OMIM:609821
Thrombocytopenia 2	Abnormal platelet shape, Leukocytosis, Increased megakaryocyte colony forming unit count, Thrombo...	OMIM:188000
Platelet Disorder, Familial, With Associated Myeloid Malignancy	Purpura, Acute myeloid leukemia, Abnormal dense granule content, Impaired platelet aggregation, P...	OMIM:601399
Amegakaryocytic Thrombocytopenia, Congenital, 1	Megakaryocytopenia, Thrombocytopenia, Amegakaryocytic thrombocytopenia, Pancytopenia	OMIM:604498
Bleeding Disorder, Platelet-Type, 19	Spontaneous hematomas, Abnormal bleeding, Anemia, Menorrhagia, Thrombocytopenia, Epistaxis, Macro...	OMIM:616176
Thrombocytopenia, Paris-Trousseau Type	Prolonged bleeding time, Abnormal bleeding, Thrombocytopenia	OMIM:188025
Quebec Platelet Disorder	Impaired epinephrine-induced platelet aggregation, Menorrhagia, Joint hemorrhage, Thrombocytopeni...	OMIM:601709
Polycythemia Vera	Acute leukemia, Gastrointestinal hemorrhage, Hepatomegaly, Myelofibrosis, Leukocytosis, Portal hy...	ORPHA:729
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome	Hepatomegaly, Anemia, Abnormal bone structure, Persistence of hemoglobin F, Splenomegaly	ORPHA:46532
Castleman Disease	Jaundice, Mediastinal lymphadenopathy, Anemia, Lymphadenopathy, Myelofibrosis, Abdominal mass, Th...	ORPHA:160
Glanzmann Thrombasthenia	Spontaneous hematomas, Purpura, Gastrointestinal hemorrhage, Spontaneous, recurrent epistaxis, Gi...	ORPHA:849
Erythroleukemia, Familial, Susceptibility To	Hepatomegaly, Anemia, Acute myeloid leukemia, Thrombocytopenia, Splenomegaly, Erythroid hyperplas...	OMIM:133180
Congenital Amegakaryocytic Thrombocytopenia	Decreased skull ossification, Thrombocytopenia, Anemia, Abnormal hemoglobin	ORPHA:3319
Sitosterolemia 1	Abnormal bleeding, Chronic hemolytic anemia, Giant platelets, Anemia, Impaired platelet aggregati...	OMIM:210250
Storage Pool Platelet Disease	Acute leukemia, Prolonged bleeding time, Abnormal bleeding, Decreased mean platelet volume	OMIM:185050
Deafness-Lymphedema-Leukemia Syndrome	Acute leukemia, Hepatomegaly, Lymphadenopathy, Abnormal neutrophil count, Myeloproliferative diso...	ORPHA:3226
Chromosome 14Q32 Duplication Syndrome, 700-Kb	Myelofibrosis, Acute myeloid leukemia, Chronic myelomonocytic leukemia	OMIM:616604
Acquired Idiopathic Sideroblastic Anemia	Abnormal megakaryocyte morphology, Normochromic anemia, Anemia of inadequate production, Bone mar...	ORPHA:75564
Hermansky-Pudlak Syndrome 9	Thrombocytopenia, Leukopenia, Abnormal platelet aggregation	OMIM:614171
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells	Decreased helper T cell proportion, Pancytopenia, Cutaneous anergy, Splenomegaly, Hypersplenism	OMIM:183350
Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome	Amegakaryocytic thrombocytopenia	ORPHA:71289
Bilateral Striopallidodentate Calcinosis	Abnormality of the liver, Subcutaneous hemorrhage, Hepatomegaly, Thrombocytopenia	ORPHA:1980
Alpha-Thalassemia-Myelodysplastic Syndrome	Acute leukemia, HbH hemoglobin, Abnormal bleeding, Thrombocytopenia, Splenomegaly, Bruising susce...	ORPHA:231401
Neutrophilia, Hereditary	Granulocytic hyperplasia, Neutrophilia, Splenomegaly	OMIM:162830
Osteopetrosis, Autosomal Recessive 2	Cranial hyperostosis, Osteopetrosis, Anemia, Pancytopenia, Diaphyseal sclerosis, Decreased osteoc...	OMIM:259710
Immunodeficiency 81	Autoimmune hemolytic anemia, Decreased proportion of class-switched memory B cells, Petechiae, Re...	OMIM:619374
Hermansky-Pudlak Syndrome 5	Absent platelet dense granules, Impaired ADP-induced platelet aggregation, Menorrhagia, Thrombocy...	OMIM:614074
Von Willebrand Disease, X-Linked Form	Prolonged bleeding time, Abnormal bleeding	OMIM:314560
Gaucher Disease, Atypical, Due To Saposin C Deficiency	Osteopenia, Hepatomegaly, Anemia, Thrombocytopenia, Splenomegaly, Hypersplenism	OMIM:610539
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome	Hepatomegaly, Splenomegaly	ORPHA:2274
Beemer Lethal Malformation Syndrome	Thrombocytopenia	OMIM:209970
Neutropenia, Severe Congenital, 10, Autosomal Recessive	Anemia, Dysplastic granulopoesis, Thrombocytopenia, Bone marrow arrest at the promyelocytic stage...	OMIM:620534
Thrombocytopenia 3	Abnormal megakaryocyte morphology, Decreased mean platelet volume, Petechiae, Epistaxis, Thromboc...	OMIM:273900
Refractory Anemia	Normocytic anemia, Abnormal bleeding, Erythroid hypoplasia, Normochromic anemia, Macrocytic anemi...	ORPHA:98826
Tatsumi Factor Deficiency	Prolonged bleeding time, Abnormal bleeding	OMIM:272650
Thrombocytopenia With Congenital Dyserythropoietic Anemia	Abnormal megakaryocyte morphology, Anemia of inadequate production, Poikilocytosis, Anisocytosis,...	ORPHA:67044
Sea-Blue Histiocyte Disease	Cirrhosis, Sea-blue histiocytosis, Thrombocytopenia, Splenomegaly	OMIM:269600
Hermansky-Pudlak Syndrome 7	Impaired platelet aggregation, Post-partum hemorrhage, Menorrhagia, Epistaxis, Bruising susceptib...	OMIM:614076
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension	Thrombocytopenia	OMIM:166990
Polycythemia Vera	Gastrointestinal hemorrhage, Increased red blood cell mass, Leukocytosis, Increased circulating h...	OMIM:263300
Bone Marrow Failure Syndrome 2	Bone marrow hypocellularity, Thrombocytopenia, Anemia, Leukopenia	OMIM:615715
Mu-Heavy Chain Disease	Hepatomegaly, Anemia, Lymphadenopathy, Increased circulating antibody level, Abnormal bone marrow...	ORPHA:100024
Acute Myelomonocytic Leukemia	Abnormal bleeding, Anemia, Leukocytosis, Thrombocytopenia, Eosinophilia	ORPHA:517
Thrombocytopenia 10	Abnormal bleeding, Decreased mean platelet volume, Petechiae, Spontaneous, recurrent epistaxis, M...	OMIM:620484
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2	Anemia, Acute myeloid leukemia, Megakaryocyte dysplasia, Pancytopenia, Increased mean corpuscular...	OMIM:619041
Eosinophilia, Familial	Eosinophilia, Thrombocytopenia, Anemia, Leukocytosis	OMIM:131400
Roch-Leri Mesosomatous Lipomatosis	Purpura, Thrombocytopenia	ORPHA:529
Von Willebrand Disease	Gastrointestinal hemorrhage, Muscle hemorrhage, Petechiae, Abnormal platelet function, Menorrhagi...	ORPHA:903
Forsythe-Wakeling Syndrome	Thrombocytopenia, Osteoporosis	OMIM:613606
Osteopetrosis, Autosomal Recessive 8	Osteopetrosis, Hepatomegaly, Anemia, Thrombocytopenia, Splenomegaly	OMIM:615085
Preeclampsia/Eclampsia 1	Thrombocytopenia	OMIM:189800
Osteopetrosis, Autosomal Recessive 4	Osteopetrosis, Hepatomegaly, Anemia, Increased bone mineral density, Petechiae, Reticulocytosis, ...	OMIM:611490
Blue Rubber Bleb Nevus	Prolonged bleeding time, Microcytic anemia, Intestinal bleeding	ORPHA:1059
Bleeding Disorder, Platelet-Type, 20	Bruising susceptibility, Menorrhagia, Thrombocytopenia, Epistaxis	OMIM:616913
Von Willebrand Disease, Type 2	Bruising susceptibility, Menorrhagia, Thrombocytopenia, Epistaxis	OMIM:613554
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked	Increased mean platelet volume, Thrombocytopenia	OMIM:300048
Neutropenia, Severe Congenital, 9, Autosomal Dominant	Myeloid maturation arrest, Splenomegaly	OMIM:619813
Hemoglobin D Disease	Anemia, HbS hemoglobin, Reduced alpha/beta synthesis ratio, Sickled erythrocytes, Decreased mean ...	ORPHA:90039
Von Willebrand Disease, Type 1	Gastrointestinal hemorrhage, Impaired platelet aggregation, Menorrhagia, Joint hemorrhage, Epista...	OMIM:193400
Hemophagocytic Lymphohistiocytosis, Familial, 4	Hypertriglyceridemia, Hepatomegaly, Jaundice, Hemophagocytosis, Anemia, Lymphadenopathy, Thromboc...	OMIM:603552
Alpha-Thalassemia	Anisopoikilocytosis, Hemoglobin Barts, Jaundice, Anemia, Cholelithiasis, Reticulocytosis, Hepatos...	ORPHA:846
Transcobalamin Deficiency	Pancytopenia, Decreased circulating antibody level, Decreased circulating IgG level, Thrombocytop...	ORPHA:859
Hemoglobin H Disease	HbH hemoglobin, Hepatomegaly, Reduced alpha/beta synthesis ratio, Splenomegaly, Hemolytic anemia	OMIM:613978
Bleeding Disorder, Platelet-Type, 12	Impaired platelet aggregation, Menorrhagia, Joint hemorrhage, Epistaxis, Intestinal bleeding, Bru...	OMIM:605735
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome	Autoimmune hemolytic anemia, Lymphadenopathy, Splenomegaly, Lymphopenia, Autoimmune thrombocytope...	ORPHA:444463
Malaria	Anemia, Elevated circulating C-reactive protein concentration, Respiratory distress, Hyperbilirub...	ORPHA:673
Beta-Thalassemia Intermedia	Osteopenia, Cirrhosis, Jaundice, Hepatomegaly, Reduced bone mineral density, Cholelithiasis, Anem...	ORPHA:231222
Idiopathic Hypereosinophilic Syndrome	Portal fibrosis, Cholangitis, Generalized lymphadenopathy, Pancreatitis, Anemia, Myeloproliferati...	ORPHA:3260
Hermansky-Pudlak Syndrome 11	Gingival bleeding, Impaired collagen-induced platelet aggregation, Menorrhagia, Epistaxis, Bruisi...	OMIM:619172
Aicardi-Goutieres Syndrome 3	Thrombocytopenia, Hepatosplenomegaly	OMIM:610329
Hemochromatosis, Type 2B	Cirrhosis, Hepatomegaly, Anemia, Secondary amenorrhea, Increased circulating iron concentration, ...	OMIM:613313
Mantle Cell Lymphoma	Splenomegaly, Lymphadenopathy, Abnormal bone marrow cell morphology	ORPHA:52416
Niemann-Pick Disease, Type B	Sea-blue histiocytosis, Anemia, Hepatomegaly, Bone-marrow foam cells, Thrombocytopenia, Splenomegaly	OMIM:607616
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease	Anemia, Lymphadenopathy, Hemophagocytosis, Decreased circulating antibody level, Abnormal natural...	OMIM:613101
Immunodeficiency 16	Coombs-positive hemolytic anemia, Splenomegaly, Pancytopenia	OMIM:615593
Hyperparathyroidism, Neonatal Severe	Calcinosis, Hepatomegaly, Anemia, Elevated circulating parathyroid hormone level, Primary hyperpa...	OMIM:239200
Pelger-Huet Anomaly	Giant platelets, Hyposegmentation of neutrophil nuclei, Thrombocytopenia, Abnormality of neutroph...	OMIM:169400
Refractory Celiac Disease	Normocytic anemia, Iron deficiency anemia, Macrocytic anemia, Hypocalcemia, Hypoproteinemia, Incr...	ORPHA:398063
Immunodeficiency 69	Anemia, Hemophagocytosis, Pancytopenia, Leukocytosis, Hepatosplenomegaly, Splenomegaly, Thrombocy...	OMIM:618963
Congenital Disorder Of Glycosylation, Type Iif	Decreased platelet glycoprotein Ib, Thrombocytopenia, Macrothrombocytopenia, Pulmonary hemorrhage...	OMIM:603585
Ghosal Hematodiaphyseal Dysplasia	Anemia, Splenomegaly, Craniofacial hyperostosis, Abnormal cortical bone morphology	ORPHA:1802
B-Cell Expansion With Nfkb And T-Cell Anergy	Increased B cell count, Splenomegaly, Lymphoid hyperplasia, Decreased circulating total IgM, Decr...	OMIM:616452
Congenital Bile Acid Synthesis Defect Type 2	Prolonged prothrombin time, Rickets, Jaundice, Giant cell hepatitis, Hepatomegaly, Cholestasis, P...	ORPHA:79303
Aicardi-Goutieres Syndrome 6	Hepatomegaly, Thrombocytopenia, Splenomegaly, Hemolytic anemia	OMIM:615010
Sea-Blue Histiocytosis	Abnormal bleeding, Sea-blue histiocytosis, Mediastinal lymphadenopathy, Hepatomegaly, Petechiae, ...	ORPHA:158029
Fetal Parvovirus Syndrome	Thrombocytopenia, Anemia, Ascites	ORPHA:295
Hermansky-Pudlak Syndrome 2	Absent platelet dense granules, Hepatomegaly, Impaired ADP-induced platelet aggregation, Hepatosp...	OMIM:608233
Hyperbilirubinemia, Shunt, Primary	Jaundice, Hepatomegaly, Hyperbilirubinemia, Anemia of inadequate production, Reticulocytosis, Spl...	OMIM:237800
Glycoprotein Storage Disease	Splenomegaly	OMIM:232900
Beta-Thalassemia	Hepatomegaly, Anemia, Reduced bone mineral density, Cholelithiasis, Thrombocytopenia, Splenomegal...	ORPHA:848
Beta-Thalassemia, Dominant Inclusion Body Type	Hepatomegaly, Decreased mean corpuscular hemoglobin concentration, Persistence of hemoglobin F, E...	OMIM:603902
Progressive Familial Intrahepatic Cholestasis	Jaundice, Hepatomegaly, Reduced bone mineral density, Cholestasis, Splenomegaly, Abnormality of t...	ORPHA:172
Ras-Associated Autoimmune Leukoproliferative Disorder	Hepatomegaly, Increased circulating antibody level, Pancytopenia, Lymphocytosis, Splenomegaly, He...	OMIM:614470
Thrombocytopenia 1	Decreased mean platelet volume, Petechiae, Increased circulating IgE level, Increased circulating...	OMIM:313900
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency	Chronic hemolytic anemia, Anemia, Reduced red cell pyruvate kinase level, Reticulocytosis, Poikil...	ORPHA:766
Wiskott-Aldrich Syndrome 2	Defective T cell proliferation, Thrombocytopenia, Decreased proportion of CD8-positive T cells, R...	OMIM:614493
Dk Phocomelia Syndrome	Thrombocytopenia	OMIM:223340
Thrombocytopenia With Elevated Serum Iga And Renal Disease	Increased circulating IgA level, Thrombocytopenia, Abnormal bleeding	OMIM:314000
Portal Hypertension, Noncirrhotic, 2	Hepatomegaly, Petechiae, Hepatocellular carcinoma, Ascites, Portal hypertension, Thrombocytopenia...	OMIM:619463
Thrombocytopenia 5	Anemia, Increased mean corpuscular volume, Petechiae, B Acute Lymphoblastic Leukemia, Thrombocyto...	OMIM:616216
Persistent Polyclonal B-Cell Lymphocytosis	Lymphocytosis, Decreased circulating total IgM, Hepatomegaly, Splenomegaly	OMIM:606445
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase	Splenomegaly, Hyperlipoproteinemia, Recurrent pancreatitis	OMIM:118830
Fanconi Anemia, Complementation Group G	Thrombocytopenia, Anemia, Leukemia, Neutropenia	OMIM:614082
Aicardi-Goutieres Syndrome 4	Hepatomegaly, Pancytopenia, Thrombocytopenia, Hepatosplenomegaly, Splenomegaly	OMIM:610333
Atypical Hemolytic Uremic Syndrome	Thrombocytopenia, Microangiopathic hemolytic anemia	ORPHA:2134
Leishmaniasis	Abnormal bleeding, Hepatomegaly, Anemia, Lymphadenopathy, Increased circulating antibody level, P...	ORPHA:507
Hydrops, Lactic Acidosis, And Sideroblastic Anemia	Anemia, Increased mean corpuscular volume, Ascites, Sideroblastic anemia, Thrombocytopenia, Eryth...	OMIM:617021
Anemia, Hypochromic Microcytic, With Iron Overload 2	Hepatomegaly, Anemia, Azoospermia, Hypochromia, Poikilocytosis, Sideroblastic anemia, Elevated he...	OMIM:615234
Congenital Factor Ii Deficiency	Prolonged prothrombin time, Abnormal bleeding, Cephalohematoma, Anemia, Excessive bleeding from s...	ORPHA:325
Fanconi Anemia, Complementation Group T	Anemia, Acute myeloid leukemia, Pancytopenia, Bone marrow hypocellularity, Thrombocytopenia	OMIM:616435
Thrombocytopenia 8, With Dysmorphic Features And Developmental Delay	Platelet anisocytosis, Increased mean platelet volume, Thrombocytopenia	OMIM:620475
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1	Increased mean corpuscular volume, Thrombocytopenia, Acute myeloid leukemia	OMIM:252270
Gamma-Heavy Chain Disease	Autoimmune hemolytic anemia, Hepatomegaly, Anemia, Lymphadenopathy, Abnormal bone marrow cell mor...	ORPHA:100026
Chronic Myeloid Leukemia	Myeloproliferative disorder, Leukocytosis, Abnormal granulocyte morphology, Thrombocytopenia, Spl...	ORPHA:521
Neurofibromatosis-Noonan Syndrome	Prolonged bleeding time, Abnormality of the lymphatic system	ORPHA:638
Factor V Deficiency	Prolonged prothrombin time, Abnormal bleeding, Menorrhagia, Epistaxis, Bruising susceptibility, P...	OMIM:227400
Immunodeficiency 52	Defective T cell proliferation, Lymphadenopathy, Abnormal natural killer cell count, Decreased ci...	OMIM:617514
Lymphoproliferative Syndrome, X-Linked, 1	Aplastic anemia, Dysgammaglobulinemia, Hepatomegaly, Hemophagocytosis, Lymphadenopathy, Pancytope...	OMIM:308240
Aplasia Cutis Congenita	Abnormality of bone mineral density, Prolonged bleeding time	ORPHA:1114
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism	Jaundice, Splenomegaly, Nonspherocytic hemolytic anemia	OMIM:206400
Immunodeficiency 32B	Granulocytic hyperplasia, Hepatomegaly, Anemia, Monocytopenia, Abnormal circulating IgG level, Ne...	OMIM:226990
Anemia, Sideroblastic, 5	Reduced hematocrit, Hypochromic microcytic anemia, Anemia, Thrombocytopenia, Neutropenia	OMIM:619523
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2	Anemia, Hydrocele testis, Thrombocytopenia, Hepatosplenomegaly, Congenital thrombocytopenia, Neut...	OMIM:616738
Osteopetrosis, Autosomal Recessive 3	Cranial hyperostosis, Osteopetrosis, Anemia, Diaphyseal sclerosis, Hepatosplenomegaly, Extramedul...	OMIM:259730
Wiskott-Aldrich Syndrome	Hematemesis, Spontaneous hematomas, Abnormal platelet function, Abnormal platelet morphology, Epi...	ORPHA:906
Transaldolase Deficiency	Cirrhosis, Anemia, Abnormal circulating glutamine concentration, Increased serum bile acid concen...	ORPHA:101028
Ataxia-Pancytopenia Syndrome	Anemia, Pancytopenia, Thrombocytopenia, Acute myelomonocytic leukemia, Hypoplastic anemia, Neutro...	OMIM:159550
Proteasome-Associated Autoinflammatory Syndrome 5	Hypertriglyceridemia, Hepatomegaly, Splenomegaly	OMIM:619175
Hepatoportal Sclerosis	Prolonged prothrombin time, Abnormal liver parenchyma morphology, Gastrointestinal hemorrhage, Ja...	ORPHA:64743
Gaucher Disease, Type Iii	Hepatomegaly, Thrombocytopenia, Splenomegaly, Pancytopenia	OMIM:231000
Bone Marrow Failure Syndrome 4	Anemia, Decreased circulating antibody level, Bone marrow hypocellularity, Thrombocytopenia, Leuk...	OMIM:618116
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality	Abnormal megakaryocyte morphology, Abnormal bleeding, Bone marrow hypercellularity, Erythroid hyp...	ORPHA:86841
Autoimmune Lymphoproliferative Syndrome, Type Iia	Gastrointestinal hemorrhage, Splenomegaly, Increased circulating IgG level, Petechiae, Autoimmune...	OMIM:603909
Osteopetrosis, Autosomal Recessive 5	Cranial hyperostosis, Osteopetrosis, Hepatomegaly, Anemia, Hypochromic microcytic anemia, Pancyto...	OMIM:259720
Immunodeficiency 78 With Autoimmunity And Developmental Delay	Autoimmune hemolytic anemia, Fluctuating splenomegaly, Lymphadenopathy, Increased circulating IgG...	OMIM:619220
Idiopathic Aplastic Anemia	Anemia, Pancytopenia, Reticulocytopenia, Gingival bleeding, Retinal hemorrhage, Bone marrow hypoc...	ORPHA:88
Cernunnos-Xlf Deficiency	Anemia, B lymphocytopenia, Decreased circulating antibody level, T lymphocytopenia, Thrombocytope...	ORPHA:169079
Amegakaryocytic Thrombocytopenia, Congenital, 2	Aplastic anemia, Anemia, Pancytopenia, Bone marrow hypocellularity, Thrombocytopenia, Neutropenia	OMIM:620481
Lymphoproliferative Syndrome 1	Autoimmune hemolytic anemia, Hepatomegaly, Anemia, Hemophagocytosis, Lymphadenopathy, Pancytopeni...	OMIM:613011
Methylmalonic Aciduria And Homocystinuria, Cblj Type	Methylmalonic acidemia, Normochromic anemia, Hyperhomocystinemia, Elevated circulating propionylc...	OMIM:614857
Hemoglobin C-Beta-Thalassemia Syndrome	Splenomegaly, Anemia, Microcytic anemia, Abnormal hemoglobin	ORPHA:231242
Spherocytosis, Type 5	Jaundice, Abnormal platelet count, Spherocytosis, Reticulocytosis, Splenomegaly, Hemolytic anemia...	OMIM:612690
Pontocerebellar Hypoplasia, Type 15	Thrombocytopenia, Chronic neutropenia, Anemia	OMIM:619302
Rh Deficiency Syndrome	Jaundice, Reduced haptoglobin level, Macrocytic anemia, Hyperbilirubinemia, Hypochromia, Spherocy...	ORPHA:71275
Hereditary Spherocytosis	Jaundice, Hepatomegaly, Anemia, Cholelithiasis, Spontaneous hemolytic crises, Increased mean corp...	ORPHA:822
Dominant Beta-Thalassemia	Cirrhosis, Jaundice, Hypochromic microcytic anemia, Decreased mean corpuscular hemoglobin concent...	ORPHA:231226
Anemia, Sideroblastic, 3, Pyridoxine-Refractory	Cirrhosis, Jaundice, Anemia, Hepatomegaly, Hypochromia, Elevated hepatic iron concentration, Anis...	OMIM:616860
Red Cell Phospholipid Defect With Hemolysis	Hyperbilirubinemia, Intermittent jaundice, Splenomegaly, Reticulocytosis	OMIM:179700
Immunodeficiency 114, Folate-Responsive	Hepatomegaly, Megaloblastic anemia, Increased circulating IgE level, Decreased circulating IgG le...	OMIM:620603
Vitamin D-Dependent Rickets, Type 3	Hypocalcemia, Elevated circulating parathyroid hormone level, Hypophosphatemia	OMIM:619073
Klippel-Trénaunay Syndrome	Gastrointestinal hemorrhage, Hepatomegaly, Ascites, Internal hemorrhage, Prolonged bleeding time,...	ORPHA:90308
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant	Lymphadenopathy, Decreased proportion of class-switched memory B cells, Increased proportion of t...	OMIM:615513
Trimethylaminuria	Anemia, Splenomegaly, Neutropenia	OMIM:602079
Mixed Connective Tissue Disease	Gastrointestinal hemorrhage, Hepatomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Purpura,...	ORPHA:809
Pulmonary Fibrosis-Hepatic Hyperplasia-Bone Marrow Hypoplasia Syndrome	Portal hypertension, Abnormality of the hepatic vasculature, Bone marrow hypocellularity, Thrombo...	ORPHA:210136
Immune Thrombocytopenia	Purpura, Gastrointestinal hemorrhage, Petechiae, Gingival bleeding, Thrombocytopenia, Epistaxis, ...	ORPHA:3002
Trichohepatoenteric Syndrome 1	Cirrhosis, Jaundice, Hepatomegaly, Abnormality of iron homeostasis, Hypospadias, Hypermethioninem...	OMIM:222470
Immunodeficiency 109 With Lymphoproliferation	Pancytopenia, Complete or near-complete absence of specific antibody response to tetanus vaccine,...	OMIM:620282
Tufted Angioma	Purpura, Anemia, Petechiae, Megakaryocytopenia, Thrombocytopenia	ORPHA:1063
Aggressive Systemic Mastocytosis	Gastrointestinal hemorrhage, Anemia, Lymphadenopathy, Increased proportion of CD25+ mast cells, P...	ORPHA:98850
Beta-Thalassemia Major	Anisopoikilocytosis, Cirrhosis, Jaundice, Hepatomegaly, Hypochromic microcytic anemia, Decreased ...	ORPHA:231214
Thrombocythemia 2	Thrombocytosis, Increased megakaryocyte count	OMIM:601977
Congenital Toxoplasmosis	Jaundice, Anemia, Lymphadenopathy, Hepatomegaly, Ascites, Thrombocytopenia, Cardiomegaly	ORPHA:858
Mccune-Albright Syndrome	Hepatocellular adenoma, Cholestasis, Bone marrow hypocellularity, Ovarian cyst, Hypophosphatemia,...	ORPHA:562
Congenital Bile Acid Synthesis Defect Type 1	Cirrhosis, Jaundice, Hepatomegaly, Abnormal bleeding, Gastrointestinal hemorrhage, Osteoporosis, ...	ORPHA:79301
Thrombocytopenia, X-Linked, With Or Without Dyserythropoietic Anemia	Petechiae, Anemia of inadequate production, Poikilocytosis, Epistaxis, Persistent bleeding after ...	OMIM:300367
Autoinflammation With Infantile Enterocolitis	Anemia, Pancytopenia, Thrombocytopenia, Splenomegaly, Diffuse alveolar hemorrhage, Reduced natura...	OMIM:616050
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease	Hypertriglyceridemia, Increased circulating ferritin concentration, Anemia, Acute myeloid leukemi...	ORPHA:158057
Diffuse Neonatal Hemangiomatosis	Hepatomegaly, Anemia, Abnormal vagina morphology, Ascites, Hypercalcemia, Thrombocytopenia	ORPHA:2123
Autoerythrocyte Sensitization Syndrome	Gastrointestinal hemorrhage, Impaired platelet adhesion, Oral cavity bleeding, Menorrhagia, Joint...	ORPHA:324636
Immunodeficiency 64 With Lymphoproliferation	Autoimmune hemolytic anemia, Defective T cell proliferation, Cervical lymphadenopathy, Mediastina...	OMIM:618534
Congenital Disorder Of Glycosylation, Type Iik	Hepatomegaly, Thrombocytopenia, Osteoporosis	OMIM:614727
Alpha-Heavy Chain Disease	Dysgammaglobulinemia, Hepatomegaly, Anemia, Lymphadenopathy, Ascites, Splenomegaly	ORPHA:100025
Tyrosinemia Type 1	Splenomegaly, Hepatomegaly, Hepatocellular carcinoma, Rickets of the lower limbs	ORPHA:882
Non-Involuting Congenital Hemangioma	Hepatic hemangioma, Thrombocytopenia	ORPHA:141179
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia	Decreased specific anti-polysaccharide antibody level, Mediastinal lymphadenopathy, Lymphadenopat...	OMIM:300853
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-	Hepatomegaly, Anemia, Pancreatitis, Respiratory distress, Hyperammonemia, Thrombocytopenia, Splen...	ORPHA:79312
Fgfr2-Related Bent Bone Dysplasia	Osteopenia, Coronal craniosynostosis, Decreased calvarial ossification, Hepatosplenomegaly, Incom...	ORPHA:313855
Fetal Gaucher Disease	Hepatomegaly, Pancytopenia, Thrombocytopenia, Abnormality of the spleen, Splenomegaly, Intracrani...	ORPHA:85212
Hemochromatosis, Type 2A	Cirrhosis, Hepatomegaly, Azoospermia, Infertility, Increased circulating iron concentration, Sple...	OMIM:602390
Pontocerebellar Hypoplasia, Type 14	Chronic neutropenia, Thrombocytopenia	OMIM:619301
Stt3B-Cdg	Respiratory distress, Thrombocytopenia, Small scrotum, Cryptorchidism, Micropenis	ORPHA:370924
Propionic Acidemia	Hepatomegaly, Pancreatitis, Anemia, Pancytopenia, Hyperammonemia, Apnea, Thrombocytopenia, Tachyp...	OMIM:606054
Prothrombin Deficiency, Congenital	Prolonged prothrombin time, Gastrointestinal hemorrhage, Gingival bleeding, Menorrhagia, Joint he...	OMIM:613679
Hypermetabolism Due To Uncoupled Mitochondrial Oxidative Phosphorylation 2	Hypervalinemia, Hyperisoleucinemia, Hyperleucinemia, Increased blood urea nitrogen, Hyperammonemi...	OMIM:620085
Acute Promyelocytic Leukemia	Abnormal bleeding, Purpura, Anemia, Lymphadenopathy, Bone marrow hypercellularity, Pancytopenia, ...	ORPHA:520
Aregenerative Anemia	Abnormal bleeding, Erythroid hypoplasia, Lymphadenopathy, Pancytopenia, Abnormal bone marrow cell...	ORPHA:101096
Congenital Disorder Of Glycosylation, Type Ix	Respiratory distress, Thrombocytopenia, Small scrotum, Cryptorchidism, Micropenis	OMIM:615597
Schnitzler Syndrome	Hepatomegaly, Anemia, Lymphadenopathy, Increased bone mineral density, Leukocytosis, Increased ci...	ORPHA:37748
Immunodeficiency 46	Decreased circulating antibody level, Anemia, Intermittent thrombocytopenia, Neutropenia	OMIM:616740
Babesiosis	Jaundice, Hepatomegaly, Leukopenia, Splenomegaly, Thrombocytopenia, Hemolytic anemia	ORPHA:108
Wiskott-Aldrich Syndrome	Hematemesis, Impaired lymphocyte transformation with phytohemagglutinin, Epistaxis, Lymphopenia, ...	OMIM:301000
Isovaleric Acidemia	Cerebellar hemorrhage, Pancytopenia, Bone marrow hypocellularity, Thrombocytopenia, Leukopenia	OMIM:243500
Autoinflammation With Episodic Fever And Lymphadenopathy	Hepatomegaly, Lymphadenopathy, Recurrent tonsillitis, Splenomegaly, Microcytic anemia	OMIM:618852
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome	Hypochromic microcytic anemia, HbS hemoglobin, Splenic infarction, Persistence of hemoglobin F, R...	ORPHA:251380
Folate Malabsorption, Hereditary	Folate-responsive megaloblastic anemia, Thrombocytopenia, Leukopenia, Neutropenia	OMIM:229050
Congenital Disorder Of Glycosylation, Type Iig	Osteopenia, Giant platelets, Anemia, Thrombocytopenia, Left ventricular hypertrophy	OMIM:611209
Congenital Syphilis	Periostitis, Purpura, Pancreatitis, Anemia, Lymphadenopathy, Petechiae, Prolonged neonatal jaundi...	ORPHA:499009
Autoimmune Lymphoproliferative Syndrome	Autoimmune hemolytic anemia, Reduced delayed hypersensitivity, Hepatomegaly, Iron deficiency anem...	OMIM:601859
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome	Lymphadenopathy, B lymphocytopenia, Splenomegaly, Intermittent thrombocytopenia, Abnormal CD4:CD8...	OMIM:150550
Hemoglobin E Disease	Hypochromic microcytic anemia, Increased red blood cell count, Drug-sensitive hemolytic anemia, H...	ORPHA:2133
Phosphoglycerate Dehydrogenase Deficiency	Megaloblastic anemia, Thrombocytopenia	OMIM:601815
Dehydrated Hereditary Stomatocytosis 2	Anisopoikilocytosis, Jaundice, Hepatomegaly, Increased mean corpuscular hemoglobin concentration,...	OMIM:616689
Hemochromatosis, Type 1	Cirrhosis, Hepatomegaly, Azoospermia, Hepatocellular carcinoma, Testicular atrophy, Ascites, Impo...	OMIM:235200
Rapidly Involuting Congenital Hemangioma	Hepatic hemangioma, Thrombocytopenia	ORPHA:141184
Anemia, Congenital Dyserythropoietic, Type Ib	Jaundice, Anemia, Hepatomegaly, Anemia of inadequate production, Reticulocytosis, Poikilocytosis,...	OMIM:615631
Cholestasis, Progressive Familial Intrahepatic, 10	Jaundice, Portal fibrosis, Hepatomegaly, Increased serum bile acid concentration, Increased total...	OMIM:619868
Hypophosphatemic Rickets, Autosomal Recessive, 1	Hypophosphatemic rickets, Hypophosphatemia	OMIM:241520
Fanconi Anemia, Complementation Group V	Bone marrow hypocellularity, Thrombocytopenia, Anemia, Neutropenia	OMIM:617243
Refractory Anemia With Excess Blasts	Abnormal bleeding, Acute myeloid leukemia, Abnormal bone marrow cell morphology, Dysplastic granu...	ORPHA:86839
Immunodeficiency 104	Splenomegaly, Hepatomegaly, Lymphadenopathy, T lymphocytopenia	OMIM:608971
Nephrotic Syndrome, Type 7	Thrombocytopenia, Hemolytic anemia	OMIM:615008
Fetal Cytomegalovirus Syndrome	Jaundice, Anemia, Hepatomegaly, Petechiae, Retinal hemorrhage, Thrombocytopenia, Splenomegaly, He...	ORPHA:294
Gaucher Disease Type 1	Increased circulating antibody level, Ascites, Leukopenia, Splenomegaly, Osteolysis, Abnormal ble...	ORPHA:77259
Hemophilia B	Cephalohematoma, Spontaneous, recurrent epistaxis, Delayed onset bleeding, Joint hemorrhage, Intr...	ORPHA:98879
Hermansky-Pudlak Syndrome 6	Absent platelet dense granules, Impaired ADP-induced platelet aggregation, Impaired collagen-indu...	OMIM:614075
Indolent Systemic Mastocytosis	Hepatomegaly, Increased proportion of CD25+ mast cells, Lymphadenopathy, Abnormal bone marrow cel...	ORPHA:98848
Immunodeficiency 27A	Anemia, Thrombocytosis, Lymphadenopathy, Increased circulating IgG level, Leukocytosis, Increased...	OMIM:209950
Hemangioma-Thrombocytopenia Syndrome	Thrombocytopenia, Microangiopathic hemolytic anemia	OMIM:141000
Gastrointestinal Ulceration, Recurrent, With Dysfunctional Platelets	Impaired platelet aggregation, Iron deficiency anemia	OMIM:618372
Autosomal Dominant Hypophosphatemic Rickets	Hypocalcemia, Hypophosphatemia, Iron deficiency anemia	ORPHA:89937
Cholestasis, Progressive Familial Intrahepatic, 12	Jaundice, Hepatomegaly, Increased serum bile acid concentration, Hyperbilirubinemia, Cholestasis,...	OMIM:620010
Syndromic Diarrhea	Cirrhosis, Hepatomegaly, Abnormality of iron homeostasis, Hypoplasia of the thymus, Hypothyroidis...	ORPHA:84064
Chédiak-Higashi Syndrome	Abnormal bleeding, Jaundice, Anemia, Hemophagocytosis, Increased proportion of CD25+ mast cells, ...	ORPHA:167
Amed Syndrome, Digenic	Anemia, Acute myeloid leukemia, Bone marrow hypocellularity, Thrombocytopenia, Leukopenia	OMIM:619151
Holocarboxylase Synthetase Deficiency	Hyperammonemia, Tachypnea, Thrombocytopenia, Respiratory distress	ORPHA:79242
Combined Oxidative Phosphorylation Deficiency 55	Hypophosphatemic rickets, Anemia, Elevated circulating creatine kinase concentration, Thrombocyto...	OMIM:619743
Encephalopathy Due To Prosaposin Deficiency	Hepatomegaly, Splenomegaly	ORPHA:139406
Immunodeficiency 48	Hepatomegaly, Impaired lymphocyte transformation with phytohemagglutinin, Panhypogammaglobulinemi...	OMIM:269840
Splenoportal Vascular Anomalies	Cirrhosis, Anomalous splenoportal venous system, Ascites, Hyperammonemia, Splenomegaly, Hepatic f...	OMIM:271500
Agammaglobulinemia 8B, Autosomal Recessive	Anemia, Decreased circulating IgE, Pancytopenia, B lymphocytopenia, Increased proportion of effec...	OMIM:619824
Asplenia, Isolated Congenital	Howell-Jolly bodies, Thrombocytosis, Asplenia	OMIM:271400
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type	Increased bone mineral density, Hepatomegaly, Abnormal cortical bone morphology, Splenomegaly	ORPHA:2204
Immunodeficiency 97 With Autoinflammation	Autoimmune hemolytic anemia, Decreased circulating total IgM, Mediastinal lymphadenopathy, Hemoph...	OMIM:619802
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia	Lymphadenopathy, Lymphocytosis, Decreased mean platelet volume, Thrombocytopenia, Hematochezia, S...	OMIM:617718
Systemic Lupus Erythematosus 17	Thrombocytopenia, Autoimmune thrombocytopenia, Leukopenia, Lymphopenia	OMIM:301080
Hypereosinophilic Syndrome, Idiopathic	Eosinophilia, Hepatomegaly, Myeloproliferative disorder, Splenomegaly	OMIM:607685
Rhabdoid Tumor	Anemia, Lymphadenopathy, Internal hemorrhage, Thrombocytopenia, Neoplasm of the liver	ORPHA:69077
Hypocalcemic Vitamin D-Dependent Rickets	Elevated circulating parathyroid hormone level, Hepatomegaly, Hypocalcemic seizures, Hypocalcemia...	ORPHA:289157
Gaucher Disease, Type I	Hepatomegaly, Anemia, Pancytopenia, Thrombocytopenia, Splenomegaly, Epistaxis, Hypersplenism	OMIM:230800
Kaposiform Lymphangiomatosis	Abnormal bleeding, Epidural hemorrhage, Anemia, Enlarged kidney, Abnormality of the lymphatic sys...	ORPHA:464329
Hypophosphatemic Rickets, X-Linked Dominant	Elevated circulating parathyroid hormone level, Hypophosphatemic rickets, Hepatosplenomegaly, Abn...	OMIM:307800
Hypercalcemia, Infantile, 2	Hypercalcemia, Hypophosphatemia	OMIM:616963
Neonatal Lupus Erythematosus	Aplastic anemia, Abnormal bleeding, Hepatomegaly, Anemia, Pancytopenia, Thrombocytopenia, Splenom...	ORPHA:398124
Takenouchi-Kosaki Syndrome	Increased mean platelet volume, Thrombocytopenia	OMIM:616737
Dent Disease 2	Hypophosphatemia, Elevated circulating creatine kinase concentration	OMIM:300555
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0	Hepatomegaly, Pancreatitis, Anemia, Respiratory distress, Hyperammonemia, Thrombocytopenia, Neutr...	ORPHA:289916
Pseudohypoparathyroidism, Type Ii	Hypocalcemia, Hyperphosphatemia, Elevated circulating parathyroid hormone level, Pseudohypoparath...	OMIM:203330
Anemia, Congenital Dyserythropoietic, Type Ii	Jaundice, Cholelithiasis, Anemia of inadequate production, Reticulocytosis, Splenomegaly	OMIM:224100
Isolated Agammaglobulinemia	Anemia, Abnormality of the tonsils, Abnormality of the lymphatic system, Abnormal lymphocyte morp...	ORPHA:229717
Mgat2-Cdg	Osteopenia, Abnormal bleeding, Impaired lymphocyte transformation with phytohemagglutinin, Impair...	ORPHA:79329
Hypertriglyceridemia, Transient Infantile	Hypertriglyceridemia, Hepatomegaly, Splenomegaly, Hepatic fibrosis, Hepatic steatosis	OMIM:614480
Specific Granule Deficiency 2	Osteopenia, Anemia, Thrombocytopenia, Bone marrow maturation arrest, Absent neutrophil specific g...	OMIM:617475
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency	Normocytic anemia, Jaundice, Normochromic anemia, Cholelithiasis, Hyperbilirubinemia, Nonspherocy...	OMIM:235700
Pseudohypoparathyroidism Type 2	Elevated circulating parathyroid hormone level, Hypocalcemic seizures, Hypocalcemia, Pseudohypopa...	ORPHA:94090
Autoimmune Lymphoproliferative Syndrome, Type Iii	Autoimmune hemolytic anemia, Hepatomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Increase...	OMIM:615559
Anemia, Congenital Dyserythropoietic, Type Iv	Anemia of inadequate production, Reticulocytosis, Unconjugated hyperbilirubinemia, Circulating nu...	OMIM:613673
Cystinosis	Delayed puberty, Hypokalemia, Portal hypertension, Nephrogenic diabetes insipidus, Hypothyroidism...	ORPHA:213
Immunodeficiency With Hyper-Igm, Type 1	Dysgammaglobulinemia, Decreased circulating IgE, Sclerosing cholangitis, Impaired Ig class switch...	OMIM:308230
Congenital Disorder Of Glycosylation, Type Iio	Cholestatic liver disease, Cirrhosis, Hepatomegaly, Decreased circulating ceruloplasmin concentra...	OMIM:616828
Thyrocerebrorenal Syndrome	Thrombocytopenia	ORPHA:3327
Colchicine Poisoning	Hypokalemia, Respiratory distress, Hypocalcemia, Leukocytosis, Hyponatremia, Hypomagnesemia, Hypo...	ORPHA:31824
Stormorken Syndrome	Abnormal bleeding, Anemia, Howell-Jolly bodies, Asplenia, Hypoplastic spleen, Thrombocytopenia, E...	OMIM:185070
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency	Hepatomegaly, Lymphadenopathy, Decreased proportion of class-switched memory B cells, Splenomegal...	OMIM:619375
Wolfram Syndrome, Mitochondrial Form	Sideroblastic anemia, Megaloblastic anemia, Thrombocytopenia, Neutropenia	OMIM:598500
Nodular Lymphocyte Predominant Hodgkin Lymphoma	Splenomegaly, Hepatomegaly, Lymphadenopathy, Abnormal bone marrow cell morphology	ORPHA:86893
Caspase 8 Deficiency	Lymphadenopathy, Complete or near-complete absence of specific antibody response to unconjugated ...	OMIM:607271
Griscelli Syndrome	Jaundice, Hepatomegaly, Lymphadenopathy, Decreased circulating antibody level, Ascites, Bone marr...	ORPHA:381
Glycosylphosphatidylinositol Biosynthesis Defect 1	Hepatomegaly, Abnormal bone marrow cell morphology, Portal hypertension, Portal vein thrombosis, ...	OMIM:610293
Bile Acid Synthesis Defect, Congenital, 5	Jaundice, Portal fibrosis, Iron deficiency anemia, Hepatomegaly, Increased serum bile acid concen...	OMIM:616278
Erythrocytosis, Familial, 8	Reduced erythrocyte bisphosphoglycerate mutase activity, Polycythemia, Increased circulating hemo...	OMIM:222800
Hypoparathyroidism, Familial Isolated, 2	Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures, Decreased circulating parathyroid hormone...	OMIM:618883
Lymphoproliferative Syndrome, X-Linked, 2	Aplastic anemia, Hepatomegaly, Hemophagocytosis, Pancytopenia, Decreased circulating antibody lev...	OMIM:300635
Lipodystrophy, Congenital Generalized, Type 3	Hypertriglyceridemia, Hepatomegaly, Hypercholesterolemia, Hypocalcemia, Hepatosplenomegaly, Splen...	OMIM:612526
Immunodeficiency 84	B lymphocytopenia, Splenomegaly	OMIM:619437
Pyruvate Kinase Deficiency Of Red Cells	Chronic hemolytic anemia, Jaundice, Reduced red cell pyruvate kinase level, Cholelithiasis, Hepat...	OMIM:266200
Isolated Splenogonadal Fusion	Abnormal epididymis morphology, Ectopia of the spleen, Bilateral cryptorchidism, Unilateral crypt...	ORPHA:457083
Avian Influenza	Elevated circulating C-reactive protein concentration, Respiratory distress, Elevated circulating...	ORPHA:454836
Glut1 Deficiency Syndrome 2	Reduced haptoglobin level, Splenomegaly, Hemolytic anemia, Reticulocytosis	OMIM:612126
Pearson Syndrome	Reticulocytosis, Bone marrow hypocellularity, Splenomegaly, Hypophosphatemia, Pancreatic fibrosis...	ORPHA:699
Osteopetrosis, Autosomal Dominant 3	Osteopenia, Hepatomegaly, Anemia, Splenomegaly	OMIM:618107
Hemophagocytic Lymphohistiocytosis, Familial, 1	Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hepatomegaly, Jaundice, Hemophagoc...	OMIM:267700
Wolfram Syndrome 2	Impaired collagen-induced platelet aggregation, Abnormal bleeding, Decreased circulating antibody...	OMIM:604928
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency	Autoimmune hemolytic anemia, Hepatomegaly, Decreased circulating total IgM, Abnormal natural kill...	ORPHA:331206
Cholesteryl Ester Storage Disease	Hypertriglyceridemia, Decreased HDL cholesterol concentration, Leukopenia, Splenomegaly, Hepatic ...	OMIM:278000
Familial Isolated Hyperparathyroidism	Elevated circulating parathyroid hormone level, Primary hyperparathyroidism, Parathyroid adenoma,...	ORPHA:99879
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia	Hepatomegaly, Reduced bone mineral density, Decreased circulating IgG level, Leukopenia, Splenome...	OMIM:620210
Braddock-Carey Syndrome 2	Megakaryocytopenia, Thrombocytopenia	OMIM:619981
3-Methylglutaconic Aciduria Type 4	Thrombocytopenia	ORPHA:67048
Mast Cell Sarcoma	Hepatomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Mastocytosis, Splenomegaly	ORPHA:66661
Dehydrated Hereditary Stomatocytosis	Macrocytic anemia, Cholelithiasis, Increased mean corpuscular hemoglobin concentration, Increased...	ORPHA:3202
X-Linked Sideroblastic Anemia	Abnormality of iron homeostasis, Anemia, Splenomegaly	ORPHA:75563
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss	Jaundice, Hypocalcemia, Elevated circulating gamma-aminobutyric acid concentration, Cholestasis, ...	OMIM:619658
Omenn Syndrome	Hepatomegaly, Anemia, Lymphadenopathy, B lymphocytopenia, Hypoplasia of the thymus, Severe B lymp...	OMIM:603554
Autoinflammatory Syndrome, Familial, Behcet-Like 1	Thrombocytopenia, Hemolytic anemia, Lymphopenia	OMIM:616744
Hermansky-Pudlak Syndrome 8	Excessive bleeding from superficial cuts, Impaired platelet aggregation, Gingival bleeding, Menor...	OMIM:614077
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland	Male infertility, Hypocalcemic seizures, Congenital hypoparathyroidism, Hypocalcemia, Hypomagnese...	ORPHA:2239
Familial Hemophagocytic Lymphohistiocytosis	Cholestatic liver disease, Purpura, Jaundice, Hepatomegaly, Hemophagocytosis, Anemia, Lymphadenop...	ORPHA:540
Immunodeficiency 91 And Hyperinflammation	Hepatomegaly, Hemophagocytosis, Lymphadenopathy, Megakaryocytopenia, Neutrophilia, Hepatosplenome...	OMIM:619644
Galactosemia Iii	Hypergalactosemia, Jaundice, Splenomegaly, Hepatomegaly	OMIM:230350
Mitochondrial Complex Iii Deficiency, Nuclear Type 5	Elevated circulating suberic acid concentration, Increased serum pyruvate, Hyperalaninemia, Hyper...	OMIM:615160
Osteopetrosis, Autosomal Recessive 1	Osteopetrosis, Hepatomegaly, Anemia, Calvarial osteosclerosis, Pancytopenia, Increased bone miner...	OMIM:259700
Immunodeficiency, Common Variable, 7	Decreased circulating total IgG, Chronic partially decreased circulating IgG1, Decreased specific...	OMIM:614699
Acquired Purpura Fulminans	Prolonged prothrombin time, Macular purpura, Internal hemorrhage, Thrombocytopenia, Intracranial ...	ORPHA:49566
Dyskeratosis Congenita, Autosomal Recessive 2	Bone marrow hypocellularity, Cirrhosis, Thrombocytopenia, Pancytopenia	OMIM:613987
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis	Osteopenia, Jaundice, Hepatomegaly, Anemia of inadequate production, Calvarial hyperostosis, Exoc...	OMIM:612714
Sting-Associated Vasculopathy, Infantile-Onset	Anemia, Elevated circulating C-reactive protein concentration, Paratracheal lymphadenopathy, Leuk...	OMIM:615934
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency	Hepatomegaly, Jaundice, Pancytopenia, Increased mean corpuscular volume, Megaloblastic anemia, Th...	OMIM:613839
Immunodeficiency 115 With Autoinflammation	Intestinal lymphangiectasia, Anemia, Elevated circulating C-reactive protein concentration, Eleva...	OMIM:620632
Fetal And Neonatal Alloimmune Thrombocytopenia	Spontaneous hematomas, Abnormal bleeding, Gastrointestinal hemorrhage, Purpura, Melena, Cephalohe...	ORPHA:853
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of	Hepatomegaly, Periportal fibrosis, Decreased circulating carnitine concentration, Elevated circul...	OMIM:201475
Macrophage Activation Syndrome	Hypertriglyceridemia, Hepatomegaly, Anemia, Hemophagocytosis, Abnormal natural killer cell count,...	ORPHA:158061
Tularemia	Cervical lymphadenopathy, Anemia, Lymphadenopathy, Mediastinal lymphadenopathy, Increased circula...	ORPHA:3392
Autoimmune Interstitial Lung, Joint, And Kidney Disease	Tachypnea, Elevated circulating C-reactive protein concentration	OMIM:616414
Relapsing Fever	Prolonged prothrombin time, Abnormal bleeding, Jaundice, Anemia, Leukocytosis, Neutrophilia, Leuk...	ORPHA:91547
Dengue Fever	Gastrointestinal hemorrhage, Hepatomegaly, Petechiae, Gingival bleeding, Ascites, Thrombocytopeni...	ORPHA:99828
Congenital Rubella Syndrome	Jaundice, Anemia, Hepatomegaly, Thrombocytopenia, Splenomegaly	ORPHA:290
Boutonneuse Fever	Lymphadenopathy, Increased circulating IgG level, Petechiae, Increased circulating IgM level, Thr...	ORPHA:83313
Neonatal Severe Primary Hyperparathyroidism	Abnormal circulating calcium-phosphate regulating hormone concentration, Hepatomegaly, Splenomega...	ORPHA:417
Immunodeficiency 76	Lymphadenopathy, B lymphocytopenia, T lymphocytopenia, Splenomegaly, Lymphopenia	OMIM:619164
Mitochondrial Complex Iii Deficiency, Nuclear Type 8	Anemia, Hyperalaninemia, Elevated circulating acylcarnitine concentration, Tachypnea, Abnormal ci...	OMIM:615838
Proteus Syndrome	Calvarial hyperostosis, Mandibular hyperostosis, Lymphangioma, Facial hyperostosis, Splenomegaly,...	OMIM:176920
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7	Osteopenia, Anemia, Portal hypertension, Thrombocytopenia, Lymphopenia	OMIM:620365
Immunodeficiency, Common Variable, 1	Hepatomegaly, Lymphadenopathy, Decreased proportion of class-switched memory B cells, B lymphocyt...	OMIM:607594
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 1	Aplastic anemia, Purpura, Amegakaryocytic thrombocytopenia, Petechiae, Megakaryocytopenia, Congen...	OMIM:605432
Vitamin B12-Unresponsive Methylmalonic Acidemia	Hepatomegaly, Pancreatitis, Anemia, Macrocytic anemia, Leukopenia, Thrombocytopenia	ORPHA:27
Stuve-Wiedemann Syndrome 2	Thrombocytopenia	OMIM:619751
Cryohydrocytosis	Reticulocytosis, Splenomegaly, Stomatocytosis, Hemolytic anemia, Pseudohyperkalemia	OMIM:185020
Hemolytic Disease Of Fetus And Newborn, Rh-Induced	Fetal ascites, Hepatomegaly, Splenomegaly	OMIM:619462
Felty Syndrome	Hepatomegaly, Anemia, Lymphadenopathy, Abnormal lymphocyte morphology, Bone marrow hypocellularit...	ORPHA:47612
Staphylococcal Necrotizing Pneumonia	Elevated circulating C-reactive protein concentration, Respiratory distress, Leukocytosis, Increa...	ORPHA:36238
Hypophosphatemic Rickets, Autosomal Dominant	Hypophosphatemic rickets, Hypophosphatemia	OMIM:193100
Acute Lung Injury	Elevated circulating C-reactive protein concentration, Respiratory distress, Acute pancreatitis, ...	ORPHA:178320
Wilson Disease	Cirrhosis, Jaundice, Hepatomegaly, Anemia, Acute hepatitis, Hepatitis, Thrombocytopenia, Splenome...	ORPHA:905
Immunodeficiency, Common Variable, 2	Hepatomegaly, Lymphadenopathy, Partial absence of specific antibody response to unconjugated pneu...	OMIM:240500
Proteasome-Associated Autoinflammatory Syndrome 2	Lymphadenopathy, Increased circulating IgG level, B lymphocytopenia, Increased circulating IgA le...	OMIM:618048
Lymphoproliferative Syndrome 2	Aplastic anemia, Hepatomegaly, Hemophagocytosis, Lymphadenopathy, Pancytopenia, Decreased circula...	OMIM:615122
Hemophagocytic Lymphohistiocytosis, Familial, 2	Prolonged prothrombin time, Jaundice, Hepatomegaly, Hemophagocytosis, Anemia, Pancytopenia, Lymph...	OMIM:603553
Thrombotic Thrombocytopenic Purpura	Microangiopathic hemolytic anemia, Thrombocytopenia, Reticulocytosis	ORPHA:54057
Hereditary Pulmonary Alveolar Proteinosis	Elevated circulating carcinoembryonic antigen concentration, Tachypnea, Abnormal circulating prot...	ORPHA:264675
Prolidase Deficiency	Hepatomegaly, Anemia, Increased circulating antibody level, Petechiae, Prolonged neonatal jaundic...	OMIM:170100
Harderoporphyria	Hepatomegaly, Reticulocytosis, Prolonged neonatal jaundice, Splenomegaly, Neonatal hyperbilirubin...	OMIM:618892
Hereditary Hypophosphatemic Rickets With Hypercalciuria	Increased circulating osteocalcin level, Hypophosphatemic rickets, Increased circulating beta-C-t...	ORPHA:157215
Systemic Mastocytosis With Associated Hematologic Neoplasm	Granulocytic hyperplasia, Normocytic anemia, Hepatomegaly, Bone marrow hypercellularity, Acute my...	ORPHA:98849
Methionine Malabsorption Syndrome	Tachypnea, Positive ferric chloride test	OMIM:250900
Thyrocerebroretinal Syndrome	Thrombocytopenia	OMIM:274240
Mirage Syndrome	Hyperkalemia, Anemia, Hypospadias, Adrenal hypoplasia, Hypergonadotropic hypogonadism, Decreased ...	OMIM:617053
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked	Anemia, Lymphadenopathy, Decreased FOXP3-expressing T cell count, Increased circulating IgE level...	OMIM:304790
Spherocytosis, Type 1	Jaundice, Cholelithiasis, Hyperbilirubinemia, Spherocytosis, Reticulocytosis, Splenomegaly, Hemol...	OMIM:182900
Hypophosphatemic Rickets And Hyperparathyroidism	Elevated circulating parathyroid hormone level, Hypophosphatemic rickets, Parathyroid hyperplasia...	OMIM:612089
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 8	Increased mean corpuscular volume, Portal hypertension, Thrombocytopenia, Splenomegaly, Nodular r...	OMIM:620367
Linear Verrucous Nevus Syndrome	Hypophosphatemia	ORPHA:2611
Imerslund-Gräsbeck Syndrome	Anisopoikilocytosis, Abnormal bleeding, Macrocytic anemia, Pancytopenia, Megaloblastic anemia, Ab...	ORPHA:35858
3-Hydroxy-3-Methylglutaryl-Coa Synthase-2 Deficiency	Increased circulating free fatty acid level, Hepatomegaly, Hepatic steatosis, Hypophosphatemia	OMIM:605911
Transaldolase Deficiency	Cirrhosis, Hepatomegaly, Anemia, Pancytopenia, Hepatosplenomegaly, Splenomegaly, Micronodular cir...	OMIM:606003
Immunodeficiency, Common Variable, 12, With Autoimmunity	Autoimmune hemolytic anemia, Decreased circulating antibody level, Thrombocytopenia	OMIM:616576
Beemer-Ertbruggen Syndrome	Increased bone mineral density, Thrombocytopenia	ORPHA:1237
Pseudo-Torch Syndrome 3	Anemia, Lymphadenitis, Leukocytosis, Apnea, Cardiomegaly, Increased circulating ferritin concentr...	OMIM:618886
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young	Hypouricemia, Diabetes mellitus, Hepatomegaly, Hypophosphatemia	OMIM:616026
Sengers Syndrome	Osteopenia, Thrombocytopenia	OMIM:212350
Noonan Syndrome 12	Thrombocytopenia, Lymphopenia	OMIM:618624
Cholestasis-Lymphedema Syndrome	Cirrhosis, Jaundice, Hepatomegaly, Hyperlipidemia, Neonatal cholestatic liver disease, Splenomega...	OMIM:214900
Pseudohypoparathyroidism, Type Ib	Hypocalcemia, Hyperphosphatemia, Elevated circulating parathyroid hormone level, Pseudohypoparath...	OMIM:603233
Moyamoya Disease 6 With Or Without Achalasia	Thrombocytopenia	OMIM:615750
Cholestasis-Lymphedema Syndrome	Cirrhosis, Jaundice, Hepatomegaly, Reduced bone mineral density, Gastrointestinal hemorrhage, Abn...	ORPHA:1414
Congenital Disorder Of Glycosylation, Type Ih	Hepatomegaly, Anemia, Cholestasis, Ascites, Hypothyroidism, Thrombocytopenia, Decreased circulati...	OMIM:608104
Congenital Fibrinogen Deficiency	Prolonged prothrombin time, Abnormal bleeding, Gingival bleeding, Internal hemorrhage, Splenic ru...	ORPHA:335
Fanconi Renotubular Syndrome 5	Hypophosphatemic rickets, Hypophosphatemia	OMIM:618913
Galactose Epimerase Deficiency	Jaundice, Splenomegaly, Hepatomegaly	ORPHA:79238
Chronic Pneumonitis Of Infancy	Tachypnea, Mediastinal lymphadenopathy, Intercostal retractions, Respiratory distress	ORPHA:91359
Alpha-1-Antitrypsin Deficiency	Reduced circulating alpha-1-antitrypsin concentration, Cirrhosis, Hepatocellular carcinoma, Splen...	OMIM:613490
Letterer-Siwe Disease	Jaundice, Anemia, Thrombocytopenia, Hepatosplenomegaly, Neutropenia	OMIM:246400
Isolated Follicle Stimulating Hormone Deficiency	Delayed puberty, Azoospermia, Decreased female libido, Oligozoospermia, Testicular atrophy, Delay...	ORPHA:52901
Aicardi-Goutieres Syndrome 5	Thrombocytopenia	OMIM:612952
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome	Increased mean platelet volume, Abnormality of the lymphatic system, Thrombocytopenia	ORPHA:487796
Erythrocytosis, Familial, 1	Increased red blood cell mass, Increased circulating hemoglobin concentration, Cerebral hemorrhag...	OMIM:133100
Overhydrated Hereditary Stomatocytosis	Decreased mean corpuscular hemoglobin concentration, Intermittent jaundice, Reticulocytosis, Abno...	ORPHA:3203
Wolman Disease	Hepatomegaly, Splenomegaly, Adrenal calcification	OMIM:620151
Thiamine-Responsive Megaloblastic Anemia Syndrome	Megaloblastic anemia, Thrombocytopenia	ORPHA:49827
Hypoparathyroidism, Familial Isolated, 1	Hypocalcemic seizures, Hypoparathyroidism, Hypocalcemia, Hyperphosphatemia, Decreased circulating...	OMIM:146200
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome	Jaundice, Hepatomegaly, Anemia, Abnormal natural killer cell count, Pancytopenia, Panhypogammaglo...	ORPHA:79124
Spherocytosis, Type 4	Jaundice, Hyperbilirubinemia, Spherocytosis, Reticulocytosis, Splenomegaly, Hemolytic anemia	OMIM:612653
Fanconi-Bickel Syndrome	Hypertriglyceridemia, Hepatomegaly, Increased hepatic glycogen content, Hepatocellular carcinoma,...	ORPHA:2088
Chronic Intestinal Pseudoobstruction	Abnormal platelet morphology	ORPHA:2978
Kasabach-Merritt Phenomenon	Prolonged prothrombin time, Hepatic hemangioma, Purpura, Anemia, Petechiae, Abnormal lymphatic ve...	ORPHA:2330
Hypocalciuric Hypercalcemia, Familial, Type Iii	Hypermagnesemia, Pancreatitis, Primary hyperparathyroidism, Hypercalcemia, Hypophosphatemia	OMIM:600740
Gaucher Disease Type 2	Hepatomegaly, Splenomegaly, Respiratory distress	ORPHA:77260
Vitamin D Hydroxylation-Deficient Rickets, Type 1A	Elevated circulating parathyroid hormone level, Hypocalcemic seizures, Hypocalcemia, Hypophosphat...	OMIM:264700
Acute Interstitial Pneumonia	Reduced hematocrit, Lymphadenopathy, Elevated circulating C-reactive protein concentration, Tachy...	ORPHA:79126
Hypophosphatemic Bone Disease	Hypophosphatemia	OMIM:146350
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema	Jaundice, Hepatomegaly, Cholelithiasis, Increased mean corpuscular hemoglobin concentration, Incr...	OMIM:194380
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity	Autoimmune hemolytic anemia, Hepatomegaly, Lymphadenopathy, Increased circulating IgG level, Sple...	OMIM:618495
Griscelli Syndrome Type 2	Jaundice, Hepatomegaly, Hemophagocytosis, Lymphadenopathy, Pancytopenia, Petechiae, Splenomegaly,...	ORPHA:79477
Symptomatic Form Of Hfe-Related Hemochromatosis	Cirrhosis, Hepatomegaly, Abnormality of iron homeostasis, Cardiomegaly, Erectile dysfunction, Hep...	ORPHA:465508
Spherocytosis, Type 2	Jaundice, Hyperbilirubinemia, Spherocytosis, Reticulocytosis, Splenomegaly, Acanthocytosis, Hemol...	OMIM:616649
Hypogonadism, Male	Testicular atrophy, Male hypogonadism, Micropenis, Hypospadias	OMIM:241100
Cholesteryl Ester Storage Disease	Hypertriglyceridemia, Cirrhosis, Jaundice, Hepatomegaly, Splenomegaly, Adrenal calcification, Hyp...	ORPHA:75234
Very Long Chain Acyl-Coa Dehydrogenase Deficiency	Jaundice, Hepatomegaly, Respiratory distress, Hypocalcemia, Hypoproteinemia, Increased circulatin...	ORPHA:26793
Immunodeficiency 60 And Autoimmunity	Decreased basophil count, Decreased circulating total IgM, Decreased circulating IgE, Pancytopeni...	OMIM:618394
Hypophosphatemic Rickets With Hypercalciuria, Hereditary	Decreased circulating parathyroid hormone level, Hypophosphatemic rickets, Abnormal circulating c...	OMIM:241530
Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, And Migraine Headache Syndrome	Splenomegaly, Pancytopenia	OMIM:614979
Classic Hodgkin Lymphoma	Hepatomegaly, Lymphadenopathy, Bone marrow hypocellularity, Splenomegaly, Osteolysis	ORPHA:391
Autoinflammation With Pulmonary And Cutaneous Vasculitis	Purpura, Hepatomegaly, Anemia, Petechiae, Splenomegaly	OMIM:620296
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia	Hyperglycinemia, Tachypnea, Hepatomegaly, Respiratory distress	OMIM:614299
Biotinidase Deficiency	Hepatomegaly, Hyperammonemia, Apnea, Splenomegaly, Tachypnea	OMIM:253260
Immunodeficiency 42	Splenomegaly, Hepatomegaly, Hypoplasia of the thymus	OMIM:616622
Atelis Syndrome 1	Thrombocytopenia, Leukopenia, Anemia	OMIM:620184
Lethal Hemolytic Anemia-Genital Anomalies Syndrome	Anemia, Hypospadias, Hypoplasia of penis, Ascites, Splenomegaly	ORPHA:1046
Cog4-Cdg	Thrombocytopenia, Cirrhosis, Hepatosplenomegaly	ORPHA:263501
Systemic Lupus Erythematosus	Thrombocytopenia, Leukopenia, Hemolytic anemia	OMIM:152700
Hypocalcemia, Autosomal Dominant 1	Hypokalemia, Hypocalcemia, Increased circulating renin level, Hypomagnesemia, Hyperphosphatemia, ...	OMIM:601198
Joubert Syndrome 23	Tachypnea, Apnea	OMIM:616490
Immunodeficiency, Common Variable, 8, With Autoimmunity	Autoimmune hemolytic anemia, Lymphadenopathy, Pancytopenia, Decreased proportion of class-switche...	OMIM:614700
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis	Hepatomegaly, Chronic hemolytic anemia, Microvesicular hepatic steatosis, Leukocytosis, Reticuloc...	OMIM:618278
Noonan Syndrome-Like Disorder With Loose Anagen Hair 1	Myelofibrosis	OMIM:607721
Kennedy Disease	Abnormal circulating lipid concentration, Erectile dysfunction, Type II diabetes mellitus, Decrea...	ORPHA:481
Kenny-Caffey Syndrome, Type 2	Hypoparathyroidism, Anemia, Transient hypophosphatemia, Hypocalcemia, Hyperphosphatemia	OMIM:127000
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis	Hypophosphatemia	OMIM:308990
Malignant Hyperthermia, Susceptibility To, 2	Hyperkalemia, Hyperphosphatemia, Elevated circulating creatine kinase concentration	OMIM:154275
Osteogenesis Imperfecta, Type Xvi	Decreased calvarial ossification, Prolonged bleeding time, Bruising susceptibility, Osteopenia	OMIM:616229
Hereditary Folate Malabsorption	Pancytopenia, Megaloblastic anemia, Decreased circulating antibody level, Thrombocytopenia, Eosin...	ORPHA:90045
Congenital Disorder Of Glycosylation, Type Iil	Cirrhosis, Hepatomegaly, Decreased specific anti-polysaccharide antibody level, Abnormal bleeding...	OMIM:614576
Agammaglobulinemia 9, Autosomal Recessive	Agammaglobulinemia, Thrombocytopenia, Absent circulating B cells	OMIM:619693
Cyclic Neutropenia	Lymphadenopathy, Recurrent tonsillitis, Decreased eosinophil count, Thrombocytopenia, Peritonitis...	ORPHA:2686
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis	Leukocytosis, Hypothyroidism, Hyponatremia, Hashimoto thyroiditis, Thrombocytopenia, Goiter	ORPHA:83601
Idiopathic Neonatal Atrial Flutter	Tachypnea, Maternal diabetes, Respiratory distress	ORPHA:45452
Multifocal Atrial Tachycardia	Hypothyroidism, Tachypnea, Cryptorchidism	ORPHA:3282
Cardiocranial Syndrome, Pfeiffer Type	Cryptorchidism, Micropenis, Hypospadias, Episodic tachypnea	ORPHA:2872
Chediak-Higashi Syndrome	Jaundice, Hepatomegaly, Hemophagocytosis, Anemia, Lymphadenopathy, Spontaneous, recurrent epistax...	OMIM:214500
Spinal And Bulbar Muscular Atrophy, X-Linked 1	Testicular atrophy, Decreased fertility, Elevated circulating creatine kinase concentration	OMIM:313200
Classic Mycosis Fungoides	Hepatomegaly, Lymphadenopathy, Abnormal bone marrow cell morphology, Abnormal lymphocyte morpholo...	ORPHA:2584
N-Acetylglutamate Synthase Deficiency	Hyperglutamatemia, Respiratory distress, Hyperalaninemia, Hyperammonemia, Low plasma citrulline, ...	OMIM:237310
Autosomal Recessive Malignant Osteopetrosis	Hepatomegaly, Anemia, Lymphadenopathy, Hypocalcemia, Apnea, Splenomegaly, Hypophosphatemia	ORPHA:667
Fanconi-Bickel Syndrome	Intrahepatic cholestasis, Hepatomegaly, Increased serum bile acid concentration, Hypokalemia, Hyp...	OMIM:227810
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency	Jaundice, Fava bean-induced hemolytic anemia, Leukocytosis, Reticulocytosis, Poikilocytosis, Prol...	OMIM:300908
Vitamin D-Dependent Rickets, Type 2A	Secondary hyperparathyroidism, Elevated circulating parathyroid hormone level, Hypocalcemic seizu...	OMIM:277440
Thiamine-Responsive Megaloblastic Anemia Syndrome	Sideroblastic anemia, Diabetes mellitus, Thrombocytopenia, Cryptorchidism, Thiamine-responsive me...	OMIM:249270
Combined Immunodeficiency Due To Crac Channel Dysfunction	Hepatomegaly, Lymphadenopathy, Thrombocytopenia, Splenomegaly, Hemolytic anemia	ORPHA:169090
Malignant Hyperthermia, Susceptibility To, 3	Hyperkalemia, Hyperphosphatemia, Elevated circulating creatine kinase concentration	OMIM:154276
Infantile Sialic Acid Storage Disease	Osteopenia, Hepatomegaly, Vacuolated lymphocytes, Ascites, Splenomegaly, Cardiomegaly	OMIM:269920
Activated Pi3K-Delta Syndrome	Hepatomegaly, Lymphadenopathy, Recurrent tonsillitis, B lymphocytopenia, Decreased circulating an...	ORPHA:397596
Good Syndrome	Mediastinal lymphadenopathy, Anemia, Abnormal leukocyte morphology, Decreased circulating antibod...	ORPHA:169105
Vitamin D Hydroxylation-Deficient Rickets, Type 1B	Hypocalcemia, Hypophosphatemia	OMIM:600081
Cinca Syndrome	Purpura, Hepatomegaly, Anemia, Lymphadenopathy, Reduced bone mineral density, Leukocytosis, Abnor...	ORPHA:1451
Dermatosparaxis Ehlers-Danlos Syndrome	Rickets, Osteopenia, Osteoporosis, Osteomalacia, Prolonged bleeding time	ORPHA:1901
Familial Cold Autoinflammatory Syndrome 2	Lymphadenopathy, Leukocytosis, Splenomegaly, Elevated circulating C-reactive protein concentration	OMIM:611762
Joubert Syndrome 9	Hepatic fibrosis, Apnea, Episodic tachypnea	OMIM:612285
Holocarboxylase Synthetase Deficiency	Hyperammonemia, Tachypnea, Thrombocytopenia	OMIM:253270
Bacterial Toxic-Shock Syndrome	Elevated circulating creatinine concentration, Respiratory distress, Hypocalcemia, Increased circ...	ORPHA:36234
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency	Jaundice, Cholelithiasis, Spontaneous hemolytic crises, Nonspherocytic hemolytic anemia, Impaired...	OMIM:613470
Pseudohypoparathyroidism, Type Ic	Elevated circulating thyroid-stimulating hormone concentration, Elevated circulating parathyroid ...	OMIM:612462
Dyskeratosis Congenita, Autosomal Dominant 2	Aplastic anemia, Pancytopenia, Osteoporosis, Bone marrow hypocellularity, Leukopenia, Thrombocyto...	OMIM:613989
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation	Autoimmune hemolytic anemia, Hepatomegaly, Lymphadenopathy, Decreased circulating antibody level,...	OMIM:616100
Cholestasis, Progressive Familial Intrahepatic, 1	Osteopenia, Rickets, Cirrhosis, Jaundice, Hepatomegaly, Cholelithiasis, Intrahepatic cholestasis ...	OMIM:211600
Hypocalcemic Vitamin D-Resistant Rickets	Hypocalcemia, Hypophosphatemia, Hyperparathyroidism	ORPHA:93160
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 2	Hypophosphatemia	OMIM:612287
Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency	Bone marrow hypocellularity, Thrombocytopenia, Anemia, Neutropenia	OMIM:614520
Cystinosis, Nephropathic	Delayed puberty, Male infertility, Hepatomegaly, Hypophosphatemic rickets, Hypokalemia, Reduced b...	OMIM:219800
T-Cell Lymphoma, Subcutaneous Panniculitis-Like	Hypertriglyceridemia, Anemia, Hemophagocytosis, Pancytopenia, Splenomegaly, Increased circulating...	OMIM:618398
Anemia, Congenital Dyserythropoietic, Type Ia	Hepatomegaly, Hyperbilirubinemia, Macrocytic dyserythropoietic anemia, Anemia of inadequate produ...	OMIM:224120
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome	Anemia, Pancytopenia, Hyperuricemia, Increased blood urea nitrogen, Hyponatremia, Thrombocytopeni...	OMIM:613845
X-Linked Agammaglobulinemia	Anemia, Abnormality of the tonsils, Abnormality of the lymphatic system, Thrombocytopenia, Agamma...	ORPHA:47
Joubert Syndrome 33	Apnea, Splenomegaly	OMIM:617767
3-Hydroxy-3-Methylglutaric Aciduria	Jaundice, Anemia, Hepatomegaly, Hyperuricemia, Acute pancreatitis, Leukocytosis, Hyperammonemia, ...	ORPHA:20
Sialidosis Type 2	Hepatomegaly, Abnormal bone marrow cell morphology, Ascites, Osteoporosis, Splenomegaly	ORPHA:87876
Proteasome-Associated Autoinflammatory Syndrome 3	Hepatomegaly, Anemia, Lymphadenopathy, Increased circulating antibody level, Thrombocytopenia, Sp...	OMIM:617591
Ebola Hemorrhagic Fever	Gastrointestinal hemorrhage, Abnormal bleeding, Increased circulating antibody level, Melena, Acu...	ORPHA:319218
High Altitude Pulmonary Edema	Tachypnea, Leukocytosis	ORPHA:330012
Beta-Ketothiolase Deficiency	Hepatomegaly, Hyperuricemia, Leukocytosis, Hyperammonemia, Tachypnea, Thrombocytosis	ORPHA:134
Joubert Syndrome 7	Tachypnea, Central apnea, Episodic tachypnea	OMIM:611560
Glycogen Storage Disease Ixb	Hyperuricemia, Hepatomegaly, Splenomegaly, Increased hepatic glycogen content	OMIM:261750
Noonan Syndrome	Osteopenia, Juvenile myelomonocytic leukemia, Hepatomegaly, Abnormal bleeding, Abnormality of the...	ORPHA:648
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 1	Hypophosphatemia	OMIM:612286
Portal Hypertension, Noncirrhotic, 1	Hepatomegaly, Splenomegaly, Portal hypertension	OMIM:617068
Glycogen Storage Disease Ixa1	Hypertriglyceridemia, Hepatomegaly, Hyperuricemia, Splenomegaly, Hypercholesterolemia	OMIM:306000
Snakebite Envenomation	Abnormal bleeding, Gingival bleeding, Ecchymosis, Thrombocytopenia, Epistaxis, Intracranial hemor...	ORPHA:449285
Dyskeratosis Congenita, Autosomal Dominant 3	Aplastic anemia, Osteopenia, Gastrointestinal hemorrhage, Anemia, Macrocytic anemia, Pancytopenia...	OMIM:613990
Immunodeficiency 7	Autoimmune hemolytic anemia, Hepatomegaly, Lymphadenopathy, Splenomegaly, Hypereosinophilia, Neut...	OMIM:615387
Hyperparathyroidism-Jaw Tumor Syndrome	Thyroid carcinoma, Elevated circulating parathyroid hormone level, Pancreatitis, Testicular neopl...	ORPHA:99880
Fibrous Dysplasia Of Bone	Thyroid carcinoma, Precocious puberty in females, Abnormality of the endocrine system, Testicular...	ORPHA:249
Blue Rubber Bleb Nevus	Abnormality of the liver, Thrombocytopenia, Iron deficiency anemia, Intestinal bleeding	OMIM:112200
Cholestasis, Progressive Familial Intrahepatic, 3	Cirrhosis, Jaundice, Intrahepatic cholestasis, Portal fibrosis, Hepatomegaly, Increased serum bil...	OMIM:602347
Hypoparathyroidism-Retardation-Dysmorphism Syndrome	Decreased response to growth hormone stimulation test, Hypocalcemic seizures, Decreased circulati...	OMIM:241410
Follicular Lymphoma	Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Abnormal peritoneum morphology	ORPHA:545
Overhydrated Hereditary Stomatocytosis	Jaundice, Hepatomegaly, Increased mean corpuscular volume, Hyperbilirubinemia, Reticulocytosis, P...	OMIM:185000
Methylmalonic Aciduria, Cblb Type	Elevated circulating methylmalonylcarnitine concentration, Hepatomegaly, Anemia, Methylmalonic ac...	OMIM:251110
Immunodeficiency 10	Autoimmune hemolytic anemia, Increased circulating IgG3 level, Hepatomegaly, Lymphadenopathy, Inc...	OMIM:612783
Pseudo-Torch Syndrome 1	Jaundice, Hepatomegaly, Petechiae, Thrombocytopenia, Splenomegaly	OMIM:251290
Dentinogenesis Imperfecta	Prolonged bleeding time, Bruising susceptibility	ORPHA:49042
Bile Acid Synthesis Defect, Congenital, 3	Prolonged prothrombin time, Cirrhosis, Jaundice, Intrahepatic cholestasis, Hepatomegaly, Acholic ...	OMIM:613812
Citrullinemia Type I	Elevated plasma citrulline, Hyperammonemia, Tachypnea	ORPHA:247525
Parathyroid Carcinoma	Parathyroid carcinoma, Thyroid carcinoma, Elevated circulating parathyroid hormone level, Pancrea...	ORPHA:143
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome	Hematemesis, Gastrointestinal hemorrhage, Vitreous hemorrhage, Muscle hemorrhage, Melena, Osteoly...	ORPHA:464321
Farber Lipogranulomatosis	Lipogranulomatosis, Hepatomegaly, Osteolytic defects of the phalanges of the hand, Splenomegaly, ...	OMIM:228000
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency	Hepatomegaly, Pancreatitis, Methylmalonic acidemia, Respiratory distress, Hyperammonemia, Thrombo...	OMIM:251000
Fanconi Renotubular Syndrome 1	Hypophosphatemia, Hypokalemia	OMIM:134600
Metaphyseal Chondrodysplasia, Jansen Type	Hypoparathyroidism, Hypercalcemia, Hypophosphatemia	OMIM:156400
Respiratory Distress Syndrome In Premature Infants	Tachypnea, Respiratory distress	OMIM:267450
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia	Splenomegaly, Decreased circulating antibody level, Leukocytosis	OMIM:618042
Hereditary Fructose Intolerance	Hypermagnesemia, Jaundice, Hepatomegaly, Hyperuricemia, Hypophosphatemia	ORPHA:469
Spondyloepiphyseal Dysplasia, Nishimura Type	Hypocalcemia, Hyperphosphatemia, Elevated circulating parathyroid hormone level	OMIM:618618
Drug-Induced Lupus Erythematosus	Petechiae, Thrombocytopenia, Anemia	ORPHA:231111
Double Outlet Right Ventricle	Aplasia/Hypoplasia of the thymus, Tachypnea, Hypoparathyroidism, Hypocalcemia	ORPHA:3426
Preeclampsia	Abnormality of the hepatic vasculature, Type I diabetes mellitus, Thrombocytopenia, Elevated circ...	ORPHA:275555
Dyskeratosis Congenita, Autosomal Recessive 1	Aplastic anemia, Pancytopenia, Osteoporosis, Bone marrow hypocellularity, Thrombocytopenia, Hepat...	OMIM:224230
Malignant Hyperthermia, Susceptibility To, 1	Hyperkalemia, Hyperphosphatemia, Elevated circulating creatine kinase concentration	OMIM:145600
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)	Jaundice, Hepatomegaly, Periportal fibrosis, Hyperbilirubinemia, Ascites, Portal hypertension, He...	OMIM:251880
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation	Hepatomegaly, Panhypogammaglobulinemia, Aplasia of the thymus, B lymphocytopenia, Increased circu...	OMIM:602450
Infantile Liver Failure Syndrome 3	Prolonged prothrombin time, Jaundice, Hepatomegaly, Cholestasis, Hepatic bridging fibrosis, Splen...	OMIM:618641
Hb Bart'S Hydrops Fetalis	Hepatomegaly, Anemia, Splenomegaly, Abnormal hemoglobin	ORPHA:163596
Joubert Syndrome 30	Tachypnea, Apnea	OMIM:617622
Fanconi Renotubular Syndrome 2	Elevated circulating parathyroid hormone level, Hypophosphatemia	OMIM:613388
Neurodevelopmental Disorder With Hearing Loss, Seizures, And Brain Abnormalities	Thrombocytopenia	OMIM:616577
Dyskeratosis Congenita, Autosomal Dominant 1	Aplastic anemia, Cirrhosis, Anemia, Increased mean corpuscular volume, Osteoporosis, Bone marrow ...	OMIM:127550
Hemophagocytic Syndrome Associated With An Infection	Hepatomegaly, Anemia, Hemophagocytosis, Abnormal natural killer cell count, Pancytopenia, Thrombo...	ORPHA:158048
Congenital Enterovirus Infection	Anemia, Respiratory distress, Abnormal macrophage morphology, Cholestasis, Leukocytosis, Fetal as...	ORPHA:292
Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To	Jaundice, Hyperalaninemia, Hyperammonemia, Hypernatremia, Hypoornithinemia, Hyperprolinemia, Low ...	OMIM:615751
Blue Diaper Syndrome	Elevated circulating thyroid-stimulating hormone concentration, Hyperphosphatemia, Hypercalcemia,...	ORPHA:94086
Congenital Factor X Deficiency	Prolonged prothrombin time, Spontaneous hematomas, Gastrointestinal hemorrhage, Post-partum hemor...	ORPHA:328
Leukocyte Adhesion Deficiency	Abnormal bleeding, Acute myeloid leukemia, Recurrent tonsillitis, Impaired platelet aggregation, ...	ORPHA:2968
Immunodeficiency 47	Decreased circulating total IgG, Normocytic anemia, Cirrhosis, Hepatomegaly, Accessory spleen, Ch...	OMIM:300972
Interstitial Pneumonitis, Desquamative, Familial	Tachypnea, Respiratory distress	OMIM:263000
Niemann-Pick Disease, Type A	Sea-blue histiocytosis, Hepatomegaly, Lymphadenopathy, Bone-marrow foam cells, Ascites, Osteoporo...	OMIM:257200
Immunodeficiency 36 With Lymphoproliferation	Chronic lymphatic leukemia, B lymphocytopenia, Increased proportion of transitional B cells, Decr...	OMIM:616005
Shwachman-Diamond Syndrome 2	Prolonged prothrombin time, Normocytic anemia, Hepatomegaly, Hyperechogenic pancreas, Exocrine pa...	OMIM:617941
Combined Immunodeficiency Due To Partial Rag1 Deficiency	Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil antibodies, B lymphocytope...	ORPHA:231154
Spermatogenic Failure, X-Linked, 2	Male infertility, Spermatogenesis maturation arrest, Testicular atrophy, Azoospermia	OMIM:309120
Short Fifth Metacarpals-Insulin Resistance Syndrome	Spherocytosis, Splenomegaly	ORPHA:66518
Cold Agglutinin Disease	Splenomegaly, Hepatomegaly, Lymphadenopathy, Hemolytic anemia	ORPHA:56425
Hoyeraal-Hreidarsson Syndrome	Abnormal leukocyte morphology, Thrombocytopenia, Anemia, Bone marrow hypocellularity	ORPHA:3322
Ornithine Transcarbamylase Deficiency	Hyperammonemia, Splenomegaly	ORPHA:664
Thrombotic Thrombocytopenic Purpura, Hereditary	Jaundice, Respiratory distress, Reticulocytosis, Increased blood urea nitrogen, Prolonged neonata...	OMIM:274150
Immunodeficiency 40	Hepatomegaly, Macrovesicular hepatic steatosis, Reduced antigen-specific T cell proliferation, T ...	OMIM:616433
Tetanus	Tachypnea, Elevated circulating creatine kinase concentration, Respiratory distress	ORPHA:3299
Macs Syndrome	Prolonged bleeding time, Bruising susceptibility, Osteoporosis	OMIM:613075
Caroli Syndrome	Hematemesis, Cirrhosis, Intrahepatic cholestasis, Jaundice, Cholangitis, Pancreatitis, Hepatomega...	ORPHA:480520
Mevalonic Aciduria	Fluctuating splenomegaly, Anemia, Lymphadenopathy, Leukocytosis, Increased circulating IgD level,...	OMIM:610377
Retinitis Pigmentosa And Erythrocytic Microcytosis	Anemia, Hypochromia, Poikilocytosis, Elliptocytosis, Anisocytosis, Leukopenia, Thrombocytopenia, ...	OMIM:616959
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3	Thrombocytopenia, Anemia, Microangiopathic hemolytic anemia	OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2	Thrombocytopenia, Anemia, Microangiopathic hemolytic anemia	OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6	Thrombocytopenia, Anemia, Microangiopathic hemolytic anemia	OMIM:612926
Immunodeficiency 22	Anemia, Decreased circulating IgE, Ascites, Decreased circulating IgG level, Decreased proportion...	OMIM:615758
Fish-Eye Disease	Splenomegaly, Hepatomegaly, Lymphadenopathy, Decreased HDL cholesterol concentration	ORPHA:79292
Hermansky-Pudlak Syndrome 1	Gingival bleeding, Ecchymosis, Epistaxis, Hematochezia, Bruising susceptibility, Prolonged bleedi...	OMIM:203300
Acquired Von Willebrand Syndrome	Prolonged prothrombin time, Normocytic anemia, Gastrointestinal hemorrhage, Melena, Subcutaneous ...	ORPHA:99147
Bone Marrow Failure Syndrome 5	Anemia, Erythroid hypoplasia, Pure red cell aplasia, Hypogonadism, Testicular atrophy	OMIM:618165
Pseudohypoparathyroidism Type 1B	Decreased response to growth hormone stimulation test, Hypocalcemic seizures, Elevated circulatin...	ORPHA:94089
Glycogen Storage Disease Xii	Delayed puberty, Normocytic anemia, Jaundice, Hepatomegaly, Decreased erythrocyte fructose-1,6-bi...	OMIM:611881
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4	Thrombocytopenia, Anemia, Microangiopathic hemolytic anemia	OMIM:612924
Pseudohypoparathyroidism, Type Ia	Elevated circulating parathyroid hormone level, Pseudohypoparathyroidism, Hypothyroidism, Hypogon...	OMIM:103580
Autoimmune Hypoparathyroidism	Hypocalcemic seizures, Hypocalcemia, Autoimmune hypoparathyroidism, Hypocalcemic tetany, Hyperpho...	ORPHA:36913
Shwachman-Diamond Syndrome 1	Hepatomegaly, Anemia, Acute myeloid leukemia, Pancytopenia, Irregular ossification at anterior ri...	OMIM:260400
Mogs-Cdg	Hepatomegaly, External genital hypoplasia, Respiratory distress, Inappropriate antidiuretic hormo...	ORPHA:79330
Hypophosphatemic Rickets, X-Linked Recessive	Hypophosphatemic rickets, Hypophosphatemia	OMIM:300554
Fructose-1,6-Bisphosphatase Deficiency	Hepatomegaly, Respiratory distress, Hyperuricemia, Hyperalaninemia, Neonatal hyperbilirubinemia, ...	ORPHA:348
Elliptocytosis 1	Elliptocytosis, Jaundice, Splenomegaly, Hemolytic anemia	OMIM:611804
Wolfram Syndrome 1	Diabetes insipidus, Megaloblastic anemia, Hypothyroidism, Sideroblastic anemia, Thrombocytopenia,...	OMIM:222300
3-Methylglutaconic Aciduria, Type Viib	Prolonged prothrombin time, Abnormal bleeding, Thrombocytopenia, Leukopenia, Bone marrow maturati...	OMIM:616271
Neuroleptic Malignant Syndrome	Hyperkalemia, Hyperuricemia, Hypocalcemia, Leukocytosis, Elevated circulating creatine kinase con...	ORPHA:94093
Gaucher Disease Type 3	Hepatomegaly, Anemia, Increased circulating antibody level, Pancytopenia, Increased bone mineral ...	ORPHA:77261
Pfapa Syndrome	Splenomegaly, Hepatomegaly, Lymphadenopathy	ORPHA:42642
Pseudo-Torch Syndrome 2	Hepatomegaly, Petechiae, Ascites, Thrombocytopenia, Cerebral hemorrhage	OMIM:617397
Felty Syndrome	Splenomegaly, Neutropenia	OMIM:134750
Immunodeficiency 54	Hepatomegaly, Lymphadenopathy, Adrenocorticotropic hormone excess, Splenomegaly, Reduced natural ...	OMIM:609981
Porphyria, Congenital Erythropoietic	Osteopenia, Jaundice, Hepatomegaly, Cholelithiasis, Thrombocytopenia, Splenomegaly, Osteolysis, R...	OMIM:263700
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5	Thrombocytopenia, Anemia, Microangiopathic hemolytic anemia	OMIM:612925
Wolman Disease	Hepatomegaly, Anemia, Bone-marrow foam cells, Ascites, Splenomegaly	ORPHA:75233
Vexas Syndrome	Thrombocytopenia, Megakaryocyte dysplasia, Macrocytic anemia	OMIM:301054
Apolipoprotein C-Ii Deficiency	Hypertriglyceridemia, Hepatomegaly, Pancreatitis, Increased circulating chylomicron concentration...	OMIM:207750
Neuraminidase Deficiency	Hepatomegaly, Epiphyseal stippling, Vacuolated lymphocytes, Bone-marrow foam cells, Ascites, Sple...	OMIM:256550
Amyloidosis, Familial Visceral	Hepatomegaly, Cholestasis, Splenomegaly	OMIM:105200
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency	Autoimmune hemolytic anemia, Hepatomegaly, Lymphadenopathy, Neutropenia in presence of anti-neutr...	ORPHA:436159
Lig4 Syndrome	Pancytopenia, Hypothyroidism, Acute lymphoblastic leukemia, Thrombocytopenia, Type II diabetes me...	OMIM:606593
Diffuse Alveolar Hemorrhage	Thrombocytopenia, Anemia, Leukocytosis	ORPHA:90060
Maternal Uniparental Disomy Of Chromosome 6	Clitoral hypertrophy, Increased serum testosterone level, Hydrocele testis, Thrombocytopenia, Con...	ORPHA:96181
Uremic Pruritus	Increased blood urea nitrogen, Hypermagnesemia, Renal hypophosphatemia, Hypercalcemia	ORPHA:94059
Methylmalonic Aciduria, Cbla Type	Hepatomegaly, Anemia, Methylmalonic acidemia, Pancytopenia, Respiratory distress, Hyperammonemia,...	OMIM:251100
Aicardi-Goutieres Syndrome 1	Purpura, Hepatomegaly, Petechiae, Prolonged neonatal jaundice, Thrombocytopenia, Splenomegaly	OMIM:225750
Nephronophthisis 19	Hepatomegaly, Cholestasis, Bile duct proliferation, Splenomegaly, Hepatic fibrosis, Malformation ...	OMIM:616217
Acyl-Coa Dehydrogenase 9 Deficiency	Prolonged prothrombin time, Thrombocytopenia, Cerebellar hemorrhage, Hepatic steatosis	ORPHA:99901
Cardiomyopathy, Dilated, 2H	Tachypnea	OMIM:620203
Hellp Syndrome	Prolonged prothrombin time, Decreased mean corpuscular hemoglobin concentration, Internal hemorrh...	ORPHA:244242
Hereditary Elliptocytosis	Jaundice, Cholelithiasis, Hyperbilirubinemia, Reticulocytosis, Poikilocytosis, Prolonged neonatal...	ORPHA:288
Pediatric-Onset Graves Disease	Jaundice, Hepatomegaly, Neutropenia in presence of anti-neutropil antibodies, Thrombocytopenia, S...	ORPHA:525731
Oncogenic Osteomalacia	Hypocalcemia, Hypophosphatemia	ORPHA:352540
Oculocerebrorenal Syndrome Of Lowe	Delayed puberty, Abnormal circulating calcium-phosphate regulating hormone concentration, Anemia,...	ORPHA:534
Mucopolysaccharidosis-Plus Syndrome	Enlarged kidney, Hepatomegaly, Macrovesicular hepatic steatosis, Anemia, Bone marrow hypocellular...	OMIM:617303
Zika Virus Disease	Increased circulating IgM level, Subcutaneous hemorrhage, Thrombocytopenia	ORPHA:448237
Thyrotoxic Periodic Paralysis	Hyperkalemia, Thyrotoxicosis with toxic single thyroid nodule, Transient hypophosphatemia, Thyrot...	ORPHA:79102
Congenital Pulmonary Lymphangiectasia	Ascites, Hepatomegaly, Splenomegaly, Respiratory distress	ORPHA:2414
Hemolytic Uremic Syndrome, Atypical, 8, With Rhizomelic Short Stature	Anemia, Schistocytosis, Leukopenia, Thrombocytopenia, Lymphopenia, Hemolytic anemia, Neutropenia	OMIM:301110
Sepsis In Premature Infants	Abnormal bleeding, Jaundice, Anemia, Hepatomegaly, Purpura, Petechiae, Leukocytosis, Thrombocytop...	ORPHA:90051
Mitochondrial Complex Iv Deficiency, Nuclear Type 13	Tachypnea	OMIM:616501
Bone Marrow Failure Syndrome 3	Aplastic anemia, Hyperechogenic pancreas, Anemia, Acute myeloid leukemia, Reduced bone mineral de...	OMIM:617052
Acute Radiation Syndrome	Abnormal bleeding, Thrombocytopenia, Granulocytopenia, Lymphopenia	ORPHA:454831
Mitochondrial Complex Iv Deficiency, Nuclear Type 3	Macrocytic anemia, Increased serum pyruvate, Hyperalaninemia, Splenomegaly, Hyperprolinemia	OMIM:619046
Cholestasis, Progressive Familial Intrahepatic, 9	Jaundice, Intrahepatic cholestasis, Hepatomegaly, Fibro-obliterative bile-duct lesion, Portal hyp...	OMIM:619849
Sanjad-Sakati Syndrome	Hypoparathyroidism, Congenital hypoparathyroidism, Hypoplasia of penis, Hypocalcemia, Hyperphosph...	ORPHA:2323
Cholestasis, Progressive Familial Intrahepatic, 2	Cirrhosis, Intrahepatic cholestasis, Hepatomegaly, Hepatocellular carcinoma, Intermittent jaundic...	OMIM:601847
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type	Cardiomegaly, Tachypnea	OMIM:613320
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome	Anemia, Megakaryocyte dysplasia, B lymphocytopenia, Reticulocytopenia, Bone marrow hypocellularit...	ORPHA:508542
Lysinuric Protein Intolerance	Hepatomegaly, Pancreatitis, Hemophagocytosis, Anemia, Osteoporosis, Leukopenia, Splenomegaly, Thr...	OMIM:222700
Schimke Immunoosseous Dysplasia	Abnormal T cell morphology, Osteopenia, Anemia, Abnormal immunoglobulin level, Pancytopenia, Decr...	OMIM:242900
Juvenile Nephropathic Cystinosis	Hypokalemia, Hypocalcemia, Hypouricemia, Hypothyroidism, Hyponatremia, Hypophosphatemia, Hypocalc...	ORPHA:411634
Autosomal Dominant Kenny-Caffey Syndrome	Hypocalcemic seizures, Anemia, Congenital hypoparathyroidism, Abnormal circulating follicle-stimu...	ORPHA:93325
Arthrogryposis, Renal Dysfunction, And Cholestasis 1	Cholestatic liver disease, Abnormal bleeding, Giant cell hepatitis, Jaundice, Intrahepatic biliar...	OMIM:208085
Gaucher Disease, Perinatal Lethal	Purpura, Hepatomegaly, Anemia, Petechiae, Ascites, Thrombocytopenia, Hepatosplenomegaly, Splenome...	OMIM:608013
Tangier Disease	Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hepatomegaly, Decreased circulatin...	OMIM:205400
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1	Purpura, Reticulocytosis, Thrombocytopenia, Microangiopathic hemolytic anemia, Schistocytosis	OMIM:235400
Myotonic Dystrophy 1	Hypogonadism, Testicular atrophy, Cholelithiasis, Respiratory distress	OMIM:160900
Granulomatous Disease, Chronic, Autosomal Recessive, 5	Lymphadenopathy, Recurrent tonsillitis, Acute pancreatitis, Lymphadenitis, Hepatosplenomegaly, Sp...	OMIM:618935
Sézary Syndrome	Hepatomegaly, Abnormal immunoglobulin level, Lymphadenopathy, Abnormal lymphocyte morphology, Spl...	ORPHA:3162
Pparg-Related Familial Partial Lipodystrophy	Hypertriglyceridemia, Cirrhosis, Hepatomegaly, Pancreatitis, Maternal diabetes, Hyperuricemia, Se...	ORPHA:79083
Glycogen Storage Disease Ixc	Hypertriglyceridemia, Cirrhosis, Hepatomegaly, Increased hepatic glycogen content, Bile duct prol...	OMIM:613027
Early-Onset Progressive Leukoencephalopathy-Central Nervous System Calcification-Deafness-Visual Impairment Syndrome	Thrombocytopenia, Hypochromic microcytic anemia	ORPHA:3240
Fanconi Anemia, Complementation Group E	Anemia, Pancytopenia, Reticulocytopenia, Thrombocytopenia, Bruising susceptibility, Leukemia, Neu...	OMIM:600901
Congenitally Uncorrected Transposition Of The Great Arteries	Hepatomegaly, Maternal diabetes, Right ventricular hypertrophy, Cardiomegaly, Tachypnea	ORPHA:860
Familial Thrombocytosis	Abnormal bleeding, Acute myeloid leukemia, Splenomegaly, Chronic myelogenous leukemia, Thrombocyt...	ORPHA:71493
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction	Elevated circulating thyroid-stimulating hormone concentration, Decreased response to growth horm...	OMIM:610978
Congenital Factor Vii Deficiency	Prolonged prothrombin time, Gastrointestinal hemorrhage, Post-partum hemorrhage, Gingival bleedin...	ORPHA:327
Gaucher Disease, Type Ii	Thrombocytopenia, Hepatomegaly, Anemia, Splenomegaly	OMIM:230900
Neuroblastoma	Anemia, Lymphadenopathy, Respiratory distress, Abdominal mass, Thrombocytopenia, Elevated circula...	ORPHA:635
Spinocerebellar Ataxia 32	Infertility, Testicular atrophy, Azoospermia	OMIM:613909
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia	Azoospermia, Decreased circulating follicle stimulating hormone concentration, Decreased circulat...	OMIM:308700
Pyruvate Carboxylase Deficiency	Hypertaurinemia, Elevated plasma citrulline, Hepatomegaly, Hyperglutamatemia, Increased serum pyr...	ORPHA:3008
Drug-Induced Autoimmune Hemolytic Anemia	Autoimmune hemolytic anemia, Increased total bilirubin, Splenomegaly	ORPHA:90037
Spinocerebellar Ataxia Type 32	Male infertility, Testicular atrophy, Azoospermia	ORPHA:276183
Bile Acid Synthesis Defect, Congenital, 1	Rickets, Cirrhosis, Jaundice, Intrahepatic cholestasis, Giant cell hepatitis, Hepatomegaly, Splen...	OMIM:607765
Combined Oxidative Phosphorylation Deficiency 14	Anemia, Increased hepatic glycogen content, Elevated hepatic iron concentration, Copper accumulat...	OMIM:614946
Pseudohypoparathyroidism Type 1A	Reduced bone mineral density, Increased bone mineral density, Abnormal platelet function, Ectopic...	ORPHA:79443
Tangier Disease	Anemia, Chronic noninfectious lymphadenopathy, Orange discolored tonsils, Thrombocytopenia, Hepat...	ORPHA:31150
Sickle Cell Disease	Jaundice, Hepatomegaly, Cholelithiasis, Splenic infarction, Leukocytosis, Target cells, Splenomeg...	OMIM:603903
Surfactant Metabolism Dysfunction, Pulmonary, 4	Tachypnea, Intraalveolar phospholipid accumulation	OMIM:300770
Combined Deficiency Of Factor V And Factor Viii	Prolonged prothrombin time, Gastrointestinal hemorrhage, Gingival bleeding, Prolonged bleeding fo...	ORPHA:35909
Juvenile Neuronal Ceroid Lipofuscinosis	Apnea, Episodic tachypnea	ORPHA:79264
Q Fever	Purpura, Hepatomegaly, Anemia, Lymphadenopathy, Increased circulating antibody level, Hepatosplen...	ORPHA:781
Osteopetrosis, Autosomal Recessive 7	Osteopetrosis, Hepatomegaly, Anemia, Decreased circulating IgG level, Abnormal trabecular bone mo...	OMIM:612301
Malignant Hyperthermia Of Anesthesia	Hyperkalemia, Tachypnea, Elevated creatine kinase after exercise, Hyperphosphatemia	ORPHA:423
Atypical Rett Syndrome	Sudden episodic apnea, Episodic tachypnea	ORPHA:3095
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked	Hepatomegaly, Hypospadias, Elevated circulating creatine kinase concentration, Thrombocytopenia, ...	OMIM:301056
Dent Disease 1	Hypophosphatemia	OMIM:300009
Mitochondrial Complex I Deficiency, Nuclear Type 20	Microvesicular hepatic steatosis, Thrombocytopenia	OMIM:611126
Majeed Syndrome	Hepatomegaly, Hypochromic microcytic anemia, Abnormal bone marrow cell morphology, Increased bone...	ORPHA:77297
Sialuria	Prolonged prothrombin time, Hepatomegaly, Hepatosplenomegaly, Cholelithiasis	ORPHA:3166
Rajab Interstitial Lung Disease With Brain Calcifications 1	Cirrhosis, Anemia, Pancytopenia, Hypocalcemia, Cholestasis, Ascites, Portal hypertension, Bile du...	OMIM:613658
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome	Hepatomegaly, Abnormal fallopian tube morphology, Hypocalcemia, Pancreatic lymphangiectasis, Hypo...	ORPHA:1655
Acrodermatitis Enteropathica, Zinc-Deficiency Type	Hepatomegaly, Decreased testicular size, Splenomegaly, Hypogonadism, Decreased serum zinc, Decrea...	OMIM:201100
Fanconi Anemia, Complementation Group A	Anemia, Pancytopenia, Reticulocytopenia, Thrombocytopenia, Bruising susceptibility, Leukemia, Neu...	OMIM:227650
Necrotizing Enterocolitis	Leukocytosis, Ascites, Hyponatremia, Apnea, Thrombocytopenia, Peritonitis, Neutropenia	ORPHA:391673
Farber Disease	Anemia, Lymphadenopathy, Intrahepatic cholestasis with episodic jaundice, Ascites, Osteoporosis, ...	ORPHA:333
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency	Hypertriglyceridemia, Delayed puberty, Hepatocellular adenoma, Cirrhosis, Portal fibrosis, Hepato...	ORPHA:264580
Methylmalonic Aciduria And Homocystinuria, Cblf Type	Hepatomegaly, Anemia, Pancytopenia, Megaloblastic anemia, Thrombocytopenia, Neutropenia	OMIM:277380
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome	Jaundice, Hepatomegaly, Cholestasis, Portal hypertension, Splenomegaly	ORPHA:59303
X-Linked Cerebral-Cerebellar-Coloboma Syndrome	Apneic episodes in infancy, Episodic tachypnea	ORPHA:163961
Fructose Intolerance, Hereditary	Bicarbonaturia, Cirrhosis, Jaundice, Hepatomegaly, Hyperuricemia, Hyperbilirubinemia, Hypophospha...	OMIM:229600
Braddock-Carey Syndrome 1	Thrombocytopenia	OMIM:619980
Calciphylaxis	Secondary hyperparathyroidism, Hyperphosphatemia	ORPHA:280062
Neutropenia, Severe Congenital, 4, Autosomal Recessive	Hepatomegaly, Anemia, Erythroid hypoplasia, Hypoplasia of the thymus, Leukopenia, Splenomegaly, H...	OMIM:612541
Bile Acid Synthesis Defect, Congenital, 2	Jaundice, Intrahepatic cholestasis, Hepatomegaly, Hyperbilirubinemia, Splenomegaly	OMIM:235555
Pyruvate Dehydrogenase Deficiency	Tachypnea	ORPHA:765
Factor X Deficiency	Prolonged prothrombin time, Gingival bleeding, Menorrhagia, Joint hemorrhage, Epistaxis, Intracra...	OMIM:227600
Vitamin K-Dependent Clotting Factors, Combined Deficiency Of, 1	Prolonged prothrombin time, Abnormal bleeding, Epiphyseal stippling, Joint hemorrhage, Epistaxis,...	OMIM:277450
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures	Thrombocytopenia	OMIM:617710
Omenn Syndrome	Hepatomegaly, Anemia, Lymphadenopathy, Abnormal lymphocyte morphology, Leukocytosis, Splenomegaly...	ORPHA:39041
Fanconi Anemia, Complementation Group C	Anemia, Pancytopenia, Reticulocytopenia, Bone marrow hypocellularity, Thrombocytopenia, Bruising ...	OMIM:227645
Recurrent Respiratory Papillomatosis	Tachypnea, Respiratory distress	ORPHA:60032
Genetic Recurrent Myoglobinuria	Hypocalcemia, Hyperphosphatemia, Highly elevated creatine kinase, Hyperkalemia	ORPHA:99845
Systemic-Onset Juvenile Idiopathic Arthritis	Splenomegaly, Hepatomegaly, Lymphadenopathy, Elevated circulating C-reactive protein concentration	ORPHA:85414
Smith-Kingsmore Syndrome	Decreased circulating IgA level, Thrombocytopenia	OMIM:616638
Poems Syndrome	Hepatomegaly, Lymphadenopathy, Increased circulating antibody level, Visceromegaly, Sclerosis of ...	ORPHA:2905
Alg8-Cdg	Thrombocytopenia, Anemia, Ascites	ORPHA:79325
Infantile Nephropathic Cystinosis	Abnormal blood ion concentration, Abnormality of thyroid physiology, Hypophosphatemia, Hypokalemia	ORPHA:411629
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency	Prolonged prothrombin time, Cirrhosis, Hepatomegaly, Ascites, Portal hypertension, Hepatosplenome...	ORPHA:367
Infant Acute Respiratory Distress Syndrome	Tachypnea, Nasal flaring	ORPHA:70587
Exercise-Induced Malignant Hyperthermia	Hyperkalemia, Hypocalcemia, Elevated circulating creatine kinase concentration, Tachypnea, Thromb...	ORPHA:466650
Cholera	Hypokalemia, Hypocalcemia, Hyponatremia, Abnormal blood ion concentration, Tachypnea	ORPHA:173
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency	Autoimmune hemolytic anemia, Reduced red cell adenosine deaminase level, Hepatomegaly, Decreased ...	OMIM:102700
Opsismodysplasia	Hypophosphatemia	OMIM:258480
Succinyl-Coa:3-Oxoacid-Coa Transferase Deficiency	Tachypnea	OMIM:245050
Autoimmune Lymphoproliferative Syndrome	Bone marrow hypercellularity, Increased circulating antibody level, Lymphocytosis, Reticulocytosi...	ORPHA:3261
Shwachman-Diamond Syndrome	Aplastic anemia, Osteopenia, Normocytic anemia, Hepatomegaly, Anemia, Acute myeloid leukemia, Mac...	ORPHA:811
Pediatric Systemic Lupus Erythematosus	Lymphadenopathy, Lymphopenia, Ascites, Thrombocytopenia, Leukopenia, Microangiopathic hemolytic a...	ORPHA:93552
Mitochondrial Complex Iii Deficiency, Nuclear Type 10	Elevated circulating creatine kinase concentration, Thrombocytopenia, Cholelithiasis, Normochromi...	OMIM:618775
Joubert Syndrome 3	Central apnea, Episodic tachypnea	OMIM:608629
Bone Fragility With Contractures, Arterial Rupture, And Deafness	Osteopenia, Bruising susceptibility, Thrombocytopenia	OMIM:612394
Familial Hypocalciuric Hypercalcemia	Hypermagnesemia, Hypocalcemic seizures, Pancreatitis, Hypercalcemia, Renal hypophosphatemia	ORPHA:405
Autoinflammatory Disease, Systemic, With Vasculitis	Jaundice, Hepatomegaly, Anemia, Elevated circulating C-reactive protein concentration, Cardiomega...	OMIM:620376
Common Variable Immunodeficiency	Purpura, Lymphadenopathy, Decreased circulating antibody level, Splenomegaly, Lymphopenia, Abnorm...	ORPHA:1572
Oculoskeletodental Syndrome	Hepatomegaly, Hypocalcemia, Hypothyroidism, Hypercalcemia, Splenomegaly, Cryptorchidism	OMIM:618440
Kallmann Syndrome With Spastic Paraplegia	Decreased circulating follicle stimulating hormone concentration, Decreased circulating luteinizi...	OMIM:308750
Celiac Disease, Susceptibility To, 1	Prolonged prothrombin time, Rickets, Iron deficiency anemia, Macrocytic anemia, Osteoporosis, Thr...	OMIM:212750
Car T Cell Therapy-Associated Cytokine Release Syndrome	Hyperbilirubinemia, Tachypnea, Elevated circulating creatinine concentration	ORPHA:542323
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 1	Tachypnea	OMIM:604320
Chronic Visceral Acid Sphingomyelinase Deficiency	Osteopenia, Cirrhosis, Hepatomegaly, Abnormal bleeding, Cholelithiasis, Acute promyelocytic leuke...	ORPHA:77293
Mucopolysaccharidosis, Type Iiib	Cardiomegaly, Hepatomegaly, Splenomegaly, Dense calvaria	OMIM:252920
Autoinflammation With Arthritis And Dyskeratosis	Autoimmune hemolytic anemia, Hepatomegaly, Increased circulating IgG level, Increased circulating...	OMIM:617388
Neonatal Acute Respiratory Distress Due To Sp-B Deficiency	Tachypnea, Intraalveolar phospholipid accumulation, Right ventricular hypertrophy	ORPHA:217563
Schimke Immuno-Osseous Dysplasia	Pancreatitis, Anemia, Abnormal proportion of naive CD4 T cells, Impaired T cell function, Decreas...	ORPHA:1830
Pearson Marrow-Pancreas Syndrome	Hepatomegaly, Refractory sideroblastic anemia, Anemia, Pancytopenia, Reticulocytopenia, Siderobla...	OMIM:557000
Rift Valley Fever	Hematemesis, Abnormal bleeding, Jaundice, Anemia, Melena, Increased circulating IgG level, Gingiv...	ORPHA:319251
Hypopigmentation, Organomegaly, And Delayed Myelination And Development	Osteopetrosis, Hepatomegaly, Splenomegaly	OMIM:618541
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency	Hypertriglyceridemia, Hepatocellular adenoma, Cirrhosis, Hepatomegaly, Anemia, Irregular menstrua...	ORPHA:79240
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis	Periostitis, Osteopenia, Hepatomegaly, Neutrophilia, Splenomegaly, Osteolysis	OMIM:612852
Purine Nucleoside Phosphorylase Deficiency	Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil antibodies, Impaired T cel...	OMIM:613179
Tarp Syndrome	Extramedullary hematopoiesis	ORPHA:2886
Acrodysostosis 1 With Or Without Hormone Resistance	Elevated circulating thyroid-stimulating hormone concentration, Elevated circulating parathyroid ...	OMIM:101800
Sclerosing Cholangitis, Neonatal	Cirrhosis, Jaundice, Portal fibrosis, Hepatomegaly, Sclerosing cholangitis, Acholic stools, Chole...	OMIM:617394
Congenital Erythropoietic Porphyria	Osteopenia, Abnormal bleeding, Osteoporosis, Reticulocytosis, Poikilocytosis, Anisocytosis, Leuko...	ORPHA:79277
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly	Hepatomegaly, Hypocalcemia, Pancreatic lymphangiectasis, Hypoproteinemia, Ascites, Splenomegaly, ...	OMIM:235255
Adams-Oliver Syndrome	Cirrhosis, Gastrointestinal hemorrhage, Ascites, Portal hypertension, Thrombocytopenia, Leukopeni...	ORPHA:974
Gaucher Disease	Osteopenia, Cirrhosis, Hepatomegaly, Anemia, Increased circulating antibody level, Cholelithiasis...	ORPHA:355
Immunodeficiency 113 With Autoimmunity And Autoinflammation	Autoimmune hemolytic anemia, Hepatomegaly, Increased circulating IgE level, Increased circulating...	OMIM:620565
Cerebroretinal Microangiopathy With Calcifications And Cysts 1	Osteopenia, Anemia, Osteoporosis, Bone marrow hypocellularity, Thrombocytopenia, Intestinal bleeding	OMIM:612199
Familial Partial Lipodystrophy, Dunnigan Type	Hypertriglyceridemia, Hepatomegaly, Pancreatitis, Secondary amenorrhea, Dysmenorrhea, Splenomegal...	ORPHA:2348
Mcleod Syndrome	Hepatomegaly, Reduced haptoglobin level, Elevated circulating creatine kinase concentration, Sple...	OMIM:300842
Pulmonary Alveolar Microlithiasis	Hepatomegaly, Testicular microlithiasis, Increased circulating surfactant protein level, Gonadal ...	ORPHA:60025
Hereditary Orotic Aciduria	Anemia, Splenomegaly, Impaired T cell function	ORPHA:30
Bartter Syndrome, Type 2, Antenatal	Impaired platelet aggregation, Osteopenia	OMIM:241200
Tyrosinemia, Type I	Prolonged prothrombin time, Cirrhosis, Hepatomegaly, Anemia, Hypophosphatemic rickets, Gastrointe...	OMIM:276700
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome	Autoimmune hemolytic anemia, Osteopenia, B lymphocytopenia, Neutropenia in presence of anti-neutr...	ORPHA:391487
Adult-Onset Still Disease	Abnormal circulating lipid concentration, Increased circulating ferritin concentration, Hepatomeg...	ORPHA:829
Alport Syndrome 3A, Autosomal Dominant	Hypophosphatemia, Azotemia	OMIM:104200
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome	Anemia, Craniosynostosis, Accessory spleen, Portal hypertension, Decreased circulating IgG level,...	OMIM:620005
Cryoglobulinemic Vasculitis	Gastrointestinal hemorrhage, Hepatomegaly, Mediastinal lymphadenopathy, Purpura, Petechiae, Viral...	ORPHA:91138
Primary Pulmonary Hypoplasia	Tachypnea, Apnea	ORPHA:2257
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Autoimmune hemolytic anemia, Iron deficiency anemia, Lymphadenopathy, Reduced proportion of CD4-n...	ORPHA:37042
Pseudohypoparathyroidism Type 1C	Calcinosis, Hypocalcemic seizures, Decreased response to growth hormone stimulation test, Elevate...	ORPHA:79444
Raine Syndrome	Hypophosphatemia	OMIM:259775
Noonan Syndrome 4	Bruising susceptibility, Abnormal bleeding, Thrombocytopenia	OMIM:610733
Proteasome-Associated Autoinflammatory Syndrome 4	Autoimmune hemolytic anemia, Splenomegaly, Hepatomegaly, Lymphadenopathy	OMIM:619183
Fanconi Anemia, Complementation Group F	Bone marrow hypocellularity, Thrombocytopenia, Leukopenia, Anemia	OMIM:603467
Joubert Syndrome With Oculorenal Defect	Tachypnea, Apnea, Abnormality of the hypothalamus-pituitary axis	ORPHA:2318
Aicardi-Goutieres Syndrome 7	Hematemesis, Hepatomegaly, Anemia, Increased circulating antibody level, Pancytopenia, Hepatitis,...	OMIM:615846
Overlap Myositis	Abnormal circulating lipid concentration, Elevated circulating creatine kinase concentration, Thr...	ORPHA:206572
Budd-Chiari Syndrome	Cirrhosis, Jaundice, Hepatomegaly, Gastrointestinal hemorrhage, Ascites, Portal hypertension, Spl...	ORPHA:131
Isolated Biliary Atresia	Prolonged prothrombin time, Cirrhosis, Jaundice, Hepatomegaly, Periportal fibrosis, Cholestasis, ...	ORPHA:30391
Congenital Disorder Of Glycosylation, Type Iiw	Prolonged prothrombin time, Hepatomegaly, Anemia, Osteoporosis, Bile duct proliferation, Bleeding...	OMIM:619525
Autoimmune Hepatitis	Cirrhosis, Jaundice, Gastrointestinal hemorrhage, Increased circulating antibody level, Sclerosin...	ORPHA:2137
Macrocephaly/Autism Syndrome	Hepatomegaly, Splenomegaly, Lymphopenia, Penile freckling, Hydrocele testis	OMIM:605309
Fanconi Anemia, Complementation Group B	Aplastic anemia, Thrombocytopenia	OMIM:300514
Crimean-Congo Hemorrhagic Fever	Hematemesis, Spontaneous hematomas, Ascites, Leukopenia, Splenomegaly, Epistaxis, Diffuse alveola...	ORPHA:99827
Hyperlipoproteinemia, Type Id	Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hepatomegaly, Pancreatitis, Increa...	OMIM:615947
Lysinuric Protein Intolerance	Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hyperammonemia, Leukopenia, Abnorm...	ORPHA:470
Ivic Syndrome	Thrombocytopenia, Leukocytosis	ORPHA:2307
Dyskeratosis Congenita	Cirrhosis, Neoplasm of the pancreas, Hepatomegaly, Anemia, Osteoporosis, Bone marrow hypocellular...	ORPHA:1775
Insulin-Resistance Syndrome Type B	Abnormal circulating lipid concentration, Abnormal salivary gland morphology, Hyperinsulinemia, I...	ORPHA:2298
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1	Calcinosis, Hypercalcemia, Hyperphosphatemia, Hyperparathyroidism	OMIM:211900
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3	Parathyroid hyperplasia, Hyperphosphatemia, Hypercalcemia, Elevated circulating parathyroid hormo...	OMIM:617994
Shigellosis	Purpura, Splenic abscess, Cholestasis, Leukocytosis, Thrombocytopenia, Peritonitis, Microangiopat...	ORPHA:810
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome	Hepatomegaly, Abnormal circulating citrulline concentration, Hyperornithinemia, Hyperammonemia, T...	ORPHA:415
Waldenström Macroglobulinemia	Normocytic anemia, Hepatomegaly, Gastrointestinal hemorrhage, Lymphadenopathy, Purpura, Gingival ...	ORPHA:33226
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay	Hypochromic microcytic anemia, B lymphocytopenia, Decreased circulating antibody level, Siderobla...	OMIM:616084
Shiga Toxin-Associated Hemolytic Uremic Syndrome	Pancreatitis, Hypokalemia, Leukocytosis, Reticulocytosis, Unconjugated hyperbilirubinemia, Hypona...	ORPHA:90038
Primary Fanconi Renotubular Syndrome	Bicarbonaturia, Hypophosphatemic rickets, Hypokalemia, Decreased circulating carnitine concentrat...	ORPHA:3337
Caroli Disease	Cirrhosis, Intrahepatic cholestasis, Jaundice, Cholangitis, Cholelithiasis, Hepatomegaly, Liver a...	ORPHA:53035
Alg12-Cdg	Prolonged prothrombin time, Abnormal bone ossification, Partial absence of specific antibody resp...	ORPHA:79324
Autosomal Recessive Polycystic Kidney Disease	Enlarged kidney, Jaundice, Cholangitis, Increased serum bile acid concentration, Periportal fibro...	ORPHA:731
Multiple Myeloma	Osteopenia, Anemia, Lymphadenopathy, Increased circulating IgG level, Increased circulating IgA l...	ORPHA:29073
Cardiac-Urogenital Syndrome	Prolonged bleeding time, Hepatopulmonary fusion, Enlarged kidney, Accessory spleen	OMIM:618280
Triosephosphate Isomerase Deficiency	Normocytic anemia, Jaundice, Chronic hemolytic anemia, Normochromic anemia, Macrocytic anemia, Ch...	OMIM:615512
Pachydermoperiostosis	Gastrointestinal hemorrhage, Hepatomegaly, Anemia, Abnormal cortical bone morphology, Abnormal bo...	ORPHA:2796
Hyperlipoproteinemia, Type I	Lactescent serum, Jaundice, Increased circulating chylomicron concentration, Acute pancreatitis, ...	OMIM:238600
Catastrophic Antiphospholipid Syndrome	Thrombocytopenia, Coombs-positive hemolytic anemia, Microangiopathic hemolytic anemia	ORPHA:464343
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome	Purpura, Hepatomegaly, Anemia, Lymphadenopathy, Pancytopenia, Decreased circulating antibody leve...	OMIM:615688
Brucellosis	Purpura, Liver abscess, Anemia, Hepatomegaly, Lymphadenopathy, Abnormal bone marrow cell morpholo...	ORPHA:1304
Recon Progeroid Syndrome	Thrombocytopenia, Anemia	OMIM:620370
8P11.2 Deletion Syndrome	Hypoplasia of penis, Azoospermia, Spherocytosis, Abnormality of the hypothalamus-pituitary axis, ...	ORPHA:251066
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome	Prolonged prothrombin time, Jaundice, Hepatomegaly, Portal hypertension, Copper accumulation in l...	ORPHA:309854
Pseudoxanthoma Elasticum-Like Disorder With Multiple Coagulation Factor Deficiency	Prolonged prothrombin time, Abnormal bleeding, Epistaxis	OMIM:610842
Congenital Tricuspid Valve Dysplasia	Cardiomegaly, Tachypnea, Hepatomegaly, Right ventricular hypertrophy	ORPHA:555874
Complete Atrioventricular Septal Defect	Hepatomegaly, Intercostal retractions, Right ventricular hypertrophy, Cardiomegaly, Tachypnea	ORPHA:1329
Lathosterolosis	Anisopoikilocytosis, Intrahepatic cholestasis, Hepatomegaly, Thrombocytopenia, Abnormal platelet ...	ORPHA:46059
Autoimmune Hemolytic Anemia, Warm Type	Autoimmune hemolytic anemia, Jaundice, Splenomegaly, Chronic lymphatic leukemia	ORPHA:90033
Surfactant Metabolism Dysfunction, Pulmonary, 1	Intraalveolar phospholipid accumulation, Tachypnea, Apnea	OMIM:265120
Primary Sclerosing Cholangitis	Prolonged prothrombin time, Osteopenia, Cirrhosis, Jaundice, Abnormal biliary tract morphology, P...	ORPHA:171
Wilson Disease	Cirrhosis, Jaundice, Portal fibrosis, Hepatomegaly, Anemia, Decreased circulating ceruloplasmin c...	OMIM:277900
Kikuchi-Fujimoto Disease	Hepatomegaly, Anemia, Lymphadenopathy, Abnormal lymph node morphology, Elevated circulating C-rea...	ORPHA:50918
Parenteral Nutrition-Associated Cholestasis	Cirrhosis, Jaundice, Hepatomegaly, Cholelithiasis, Hyperlipidemia, Portal hypertension, Biliary h...	ORPHA:567983
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency	Hepatomegaly, Anemia, Lymphadenopathy, Hypoproteinemia, Cholestasis, Leukocytosis, Lymphadenitis,...	OMIM:615895
Hemorrhagic Fever-Renal Syndrome	Hyperkalemia, Anemia, Respiratory distress, Leukocytosis, Thrombocytopenia, Hyperphosphatemia, El...	ORPHA:340
Marburg Hemorrhagic Fever	Prolonged prothrombin time, Abnormal bleeding, Jaundice, Pancreatitis, Lymphadenopathy, Increased...	ORPHA:99826
Double Outlet Left Ventricle	Cardiomegaly, Tachypnea, Cryptorchidism	ORPHA:3427
Coronary Arterial Fistula	Cardiomegaly, Tachypnea	ORPHA:2041
Fanconi Anemia, Complementation Group D2	Annular pancreas, Anemia, Pancytopenia, Reticulocytopenia, Bone marrow hypocellularity, Thrombocy...	OMIM:227646
Lujo Hemorrhagic Fever	Purpura, Fulminant hepatitis, Leukocytosis, Thrombocytopenia, Leukopenia, Subconjunctival hemorrh...	ORPHA:319213
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects	Hyperkalemia, Jaundice, Hepatomegaly, Splenomegaly, Conjugated hyperbilirubinemia, Stomatocytosis...	OMIM:608885
Dent Disease	Renal hypophosphatemia, Elevated circulating creatine kinase concentration	ORPHA:1652
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome	Splenomegaly, Abnormally ossified vertebrae	ORPHA:3035
Hardikar Syndrome	Hematemesis, Cirrhosis, Jaundice, Hepatomegaly, Cholangitis, Intrahepatic bile duct dilatation, P...	OMIM:301068
Bile Acid Synthesis Defect, Congenital, 4	Prolonged prothrombin time, Intrahepatic cholestasis, Hepatomegaly, Giant cell hepatitis, Prolong...	OMIM:214950
Ethylene Glycol Poisoning	Tachypnea, Episodic respiratory distress, Hyperkalemia, Hypocalcemia	ORPHA:31826
Diamond-Blackfan Anemia 21	Thrombocytopenia, Anemia, Erythroid hypoplasia	OMIM:620072
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy	Tachypnea, Apnea, Supernumerary nipple, Hypospadias	ORPHA:397715
Smooth Muscle Dysfunction Syndrome	Tachypnea, Cryptorchidism	OMIM:613834
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Enlarged kidney, Anemia, Bone marrow hypocellularity, Decreased circulating IgG level, Increased ...	ORPHA:505248
Congenital Disorder Of Glycosylation, Type Ia	Prolonged prothrombin time, Osteopenia, Hepatomegaly, Decreased circulating IgG level, Hepatic fi...	OMIM:212065
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome	Anemia, Cholelithiasis, Pancytopenia, Azoospermia, Spontaneous, recurrent epistaxis, Hepatospleno...	ORPHA:2072
Arima Syndrome	Cirrhosis, Hepatomegaly, Anemia, Tachypnea, Hepatic fibrosis, Hepatic steatosis	OMIM:243910
Familial Mediterranean Fever	Hepatomegaly, Elevated circulating C-reactive protein concentration, Leukocytosis, Neutrophilia, ...	OMIM:249100
Joubert Syndrome	Apnea, Episodic tachypnea, Abnormality of the hypothalamus-pituitary axis	ORPHA:475
Lesch-Nyhan Syndrome	Megaloblastic anemia, Testicular atrophy, Hyperuricemia	OMIM:300322
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis	Hepatomegaly, Ascites, Thrombocytopenia, Splenomegaly, Micronodular cirrhosis	OMIM:301072
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism	Elevated circulating thyroid-stimulating hormone concentration, Hepatomegaly, Splenic cyst, Incre...	OMIM:610199
Surfactant Metabolism Dysfunction, Pulmonary, 3	Intraalveolar phospholipid accumulation, Tachypnea, Apnea, Respiratory distress	OMIM:610921
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure	Thrombocytopenia, Normochromic anemia	OMIM:254900
Scorpion Envenomation	Increased circulating NT-proBNP concentration, Hypokalemia, Acute pancreatitis, Tachypnea, Priapi...	ORPHA:466677
Stevens-Johnson Syndrome	Gastrointestinal hemorrhage, Pancreatitis, Anemia, Thrombocytopenia, Abnormality of neutrophils	ORPHA:36426
Osteopetrosis With Renal Tubular Acidosis	Osteopetrosis, Hepatomegaly, Anemia, Pancytopenia, Bone marrow hypocellularity, Elliptocytosis, E...	ORPHA:2785
Infantile Liver Failure Syndrome 2	Prolonged prothrombin time, Jaundice	OMIM:616483
Liver Disease, Severe Congenital	Lymphocytosis, Hypoproteinemia, Ascites, Biliary hyperplasia, Hyperammonemia, Leukopenia, Splenom...	OMIM:619991
Fibular Hemimelia	Craniosynostosis, Abnormal bone ossification, Thrombocytopenia	ORPHA:93323
Liver Failure, Infantile, Transient	Prolonged prothrombin time, Jaundice, Macrovesicular hepatic steatosis, Hepatomegaly, Microvesicu...	OMIM:613070
16Q24.3 Microdeletion Syndrome	Increased mean corpuscular volume, Thrombocytopenia	ORPHA:261250
Chronic Granulomatous Disease	Liver abscess, Mediastinal lymphadenopathy, Hepatomegaly, Splenomegaly, Abnormality of neutrophils	ORPHA:379
Gaucher Disease, Type Iiic	Cardiomegaly, Hepatomegaly, Splenomegaly, Pancytopenia	OMIM:231005
Immunodeficiency 87 And Autoimmunity	Autoimmune hemolytic anemia, Hypertriglyceridemia, Jaundice, Hepatomegaly, Decreased CD4:CD8 rati...	OMIM:619573
Yellow Fever	Prolonged prothrombin time, Hematemesis, Abnormal bleeding, Jaundice, Acute pancreatitis, Leukocy...	ORPHA:99829
Hemophilia B	Prolonged prothrombin time, Hematemesis, Gastrointestinal hemorrhage, Melena, Petechiae, Joint he...	OMIM:306900
Hyper-Igd Syndrome	Lymphadenopathy, Increased circulating IgA level, Leukocytosis, Lymphadenitis, Increased circulat...	OMIM:260920
Paget Disease Of Bone 5, Juvenile-Onset	Hyperphosphatemia, Hydroxyprolinemia, Hyperuricemia	OMIM:239000
Toxic Epidermal Necrolysis	Gastrointestinal hemorrhage, Pancreatitis, Anemia, Thrombocytopenia, Neutropenia	ORPHA:537
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome	Anemia, Hypospadias, Hypocalcemia, Hyperbilirubinemia, Thrombocytopenia, Absent gallbladder, Cryp...	ORPHA:163979
Diamond-Blackfan Anemia	Elevated red cell adenosine deaminase activity, Acute myeloid leukemia, Normochromic anemia, Eryt...	ORPHA:124
Joubert Syndrome 2	Hypoplastic male external genitalia, Central apnea, Episodic tachypnea	OMIM:608091
Familial Tumoral Calcinosis	Hyperostosis, Hepatomegaly, Splenomegaly	ORPHA:53715
Thrombocytopenia 11 With Multiple Congenital Anomalies And Dysmorphic Facies	Anemia, Pancytopenia, Thrombocytopenia, Leukopenia, Lymphopenia	OMIM:620654
Histiocytoid Cardiomyopathy	Cardiomegaly, Tachypnea, Hepatomegaly, Polycystic ovaries	ORPHA:137675
Renal-Hepatic-Pancreatic Dysplasia 1	Cirrhosis, Hyperechogenic pancreas, Hepatomegaly, Enlarged kidney, Cholestasis, Biliary cirrhosis...	OMIM:208540
Atelis Syndrome 2	Vitreous hemorrhage, Thrombocytopenia, Anemia	OMIM:620185
Paroxysmal Nocturnal Hemoglobinuria	Jaundice, Anemia, Reduced haptoglobin level, Pancytopenia, Abnormal erythrocyte enzyme concentrat...	ORPHA:447
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome	Thrombocytopenia	ORPHA:457351
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia	Hepatomegaly, Decreased hemoglobin concentration, Thrombocytopenia, Cryptorchidism, Micropenis	OMIM:619005
Brachytelephalangic Chondrodysplasia Punctata	Tachypnea, Central apnea	ORPHA:79345
Granulomatous Disease, Chronic, Autosomal Recessive, 1	Liver abscess, Hepatomegaly, Lymphadenopathy, Lymphadenitis, Splenomegaly, Impaired oxidative bur...	OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2	Liver abscess, Hepatomegaly, Lymphadenopathy, Lymphadenitis, Splenomegaly, Impaired oxidative bur...	OMIM:233710
Adams-Oliver Syndrome 5	Portal vein thrombosis, Hypersplenism, Splenomegaly, Right ventricular hypertrophy	OMIM:616028
Orofaciodigital Syndrome Type 6	Apnea, Bilateral cryptorchidism, Episodic tachypnea	ORPHA:2754
Aarskog-Scott Syndrome	Delayed puberty, Bilateral cryptorchidism, Elevated circulating follicle stimulating hormone leve...	OMIM:305400
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull	Testicular atrophy	OMIM:601163
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis	Jaundice, Hepatomegaly, Sclerosing cholangitis, Intrahepatic biliary atresia, Cholestasis, Portal...	OMIM:607626
Abetalipoproteinemia	Prolonged prothrombin time, Osteopenia, Cirrhosis, Hepatomegaly, Anemia, Abnormal bleeding, Retic...	ORPHA:14
Surfactant Metabolism Dysfunction, Pulmonary, 2	Tachypnea, Intraalveolar phospholipid accumulation, Respiratory distress	OMIM:610913
21Q22.11Q22.12 Microdeletion Syndrome	Thrombocytopenia, Anemia	ORPHA:261323
Niemann-Pick Disease, Type C1	Sea-blue histiocytosis, Hepatomegaly, Bone-marrow foam cells, Prolonged neonatal jaundice, Spleno...	OMIM:257220
Thrombocytopenia-Absent Radius Syndrome	Thrombocytopenia	ORPHA:3320
Alport Syndrome 1, X-Linked	Thrombocytopenia	OMIM:301050
Neutral Lipid Storage Disease With Myopathy	Hypertriglyceridemia, Hepatomegaly, Chronic pancreatitis, Elevated circulating creatine kinase co...	OMIM:610717
Ivic Syndrome	Thrombocytopenia, Leukocytosis	OMIM:147750
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency	Prolonged prothrombin time, Gastrointestinal hemorrhage, Jaundice, Hepatomegaly, Anemia, Abnormal...	ORPHA:247598
Granulomatous Disease, Chronic, Autosomal Recessive, 4	Liver abscess, Hepatomegaly, Lymphadenopathy, Lymphadenitis, Splenomegaly, Impaired oxidative bur...	OMIM:233690
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2	Cholestatic liver disease, Hypertriglyceridemia, Cirrhosis, Hepatomegaly, Anemia, Lymphadenopathy...	OMIM:619418
Joubert Syndrome 1	Hepatic fibrosis, Central apnea, Episodic tachypnea	OMIM:213300
Glycogen Storage Disease Ib	Delayed puberty, Enlarged kidney, Hepatomegaly, Pancreatitis, Hyperuricemia, Hepatocellular carci...	OMIM:232220
Multiple Mitochondrial Dysfunctions Syndrome 7	Hyperglycinemia, Apnea, Thrombocytopenia, Hypernatremia	OMIM:620423
Hypermethioninemia Due To Adenosine Kinase Deficiency	Prolonged prothrombin time, Cholestasis, Hepatic steatosis, Portal fibrosis	OMIM:614300
Serotonin Syndrome	Tachypnea	ORPHA:43116
Autosomal Recessive Hypophosphatemic Rickets	Renal hypophosphatemia, Hypophosphatemic rickets	ORPHA:289176
X-Linked Hypophosphatemia	Hypophosphatemia	ORPHA:89936
Wars2-Related Combined Oxidative Phosphorylation Defect	Thrombocytopenia	ORPHA:572798
Down Syndrome	Leukemia, Abnormality of the lymphatic system, Polycythemia, Neutrophilia, Thrombocytopenia, Acut...	ORPHA:870
Immunodeficiency 31C	Autoimmune hemolytic anemia, Osteopenia, Hepatomegaly, Impaired lymphocyte transformation with ph...	OMIM:614162
Deeah Syndrome	Decreased response to growth hormone stimulation test, Hepatomegaly, Anterior pituitary hypoplasi...	OMIM:619004
Lipodystrophy, Congenital Generalized, Type 2	Hypertriglyceridemia, Decreased fertility, Cirrhosis, Hepatomegaly, Clitoral hypertrophy, Decreas...	OMIM:269700
Dyskeratosis Congenita, X-Linked	Cirrhosis, Anemia, Acute myeloid leukemia, Pancytopenia, Osteoporosis, Bone marrow hypocellularit...	OMIM:305000
Cholestasis, Progressive Familial Intrahepatic, 5	Prolonged prothrombin time, Cirrhosis, Jaundice, Ascites	OMIM:617049
Primary Sjögren Syndrome	Normocytic anemia, Purpura, Lymphadenopathy, Normochromic anemia, Chronic active hepatitis, Incre...	ORPHA:289390
Acute Liver Failure	Prolonged prothrombin time, Gastrointestinal hemorrhage, Jaundice, Abnormal bleeding, Hepatic per...	ORPHA:90062
Cocaine Intoxication	Tachypnea, Elevated circulating creatine kinase concentration, Respiratory distress	ORPHA:90068
Autosomal Dominant Hypocalcemia	Hypocalcemia, Hyperphosphatemia, Hypomagnesemia	ORPHA:428
Primary Biliary Cholangitis	Cirrhosis, Jaundice, Hepatomegaly, Increased circulating IgA level, Hepatocellular carcinoma, Bil...	ORPHA:186
Diamond-Blackfan Anemia 1	Elevated red cell adenosine deaminase activity, Macrocytic anemia, Increased mean corpuscular vol...	OMIM:105650
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease	Hematemesis, Enlarged kidney, Hepatomegaly, Periportal fibrosis, Portal hypertension, Splenomegal...	OMIM:263200
Proteasome-Associated Autoinflammatory Syndrome 1	Hypertriglyceridemia, Elevated circulating thyroid-stimulating hormone concentration, Decreased H...	OMIM:256040
Methylmalonic Acidemia With Homocystinuria, Type Cblc	Jaundice, Methylmalonic acidemia, Respiratory distress, Hyperhomocystinemia, Megaloblastic anemia...	ORPHA:79282
Methylmalonic Aciduria And Homocystinuria, Cblc Type	Megaloblastic anemia, Hepatomegaly, Thrombocytopenia, Neutropenia	OMIM:277400
Congenital Lipomatous Overgrowth, Vascular Malformations, And Epidermal Nevi	Cranial hyperostosis, Splenomegaly	OMIM:612918
Hepatoerythropoietic Porphyria	Osteopenia, Abnormal bleeding, Osteoporosis, Splenomegaly, Osteolysis, Erythroid hyperplasia, Hem...	ORPHA:95159
Dubowitz Syndrome	Anemia, Acute lymphoblastic leukemia, Thrombocytopenia, Craniosynostosis, Abnormality of neutrophils	ORPHA:235
Classical Ehlers-Danlos Syndrome	Osteopenia, Prolonged bleeding time, Ecchymosis, Bruising susceptibility	ORPHA:287
Primary Triglyceride Deposit Cardiomyovasculopathy	Hepatomegaly, Pancreatitis, Vacuolated lymphocytes, Hyperlipidemia, Elevated circulating creatine...	ORPHA:565612
Nijmegen Breakage Syndrome	Autoimmune hemolytic anemia, Dysgammaglobulinemia, B lymphocytopenia, T lymphocytopenia, Thromboc...	OMIM:251260
Lipodystrophy, Congenital Generalized, Type 1	Hypertriglyceridemia, Cirrhosis, Hepatomegaly, Clitoral hypertrophy, Decreased fertility in femal...	OMIM:608594
Jacobsen Syndrome	Annular pancreas, Hypospadias, Labial hypoplasia, Clitoral hypoplasia, Thrombocytopenia, Cryptorc...	OMIM:147791
Leptospirosis	Jaundice, Hepatomegaly, Lymphadenopathy, Retinal hemorrhage, Thrombocytopenia, Subconjunctival he...	ORPHA:509
Thrombocytopenia-Absent Radius Syndrome	Anemia, Decreased circulating antibody level, Leukocytosis, Prolonged bleeding following circumci...	OMIM:274000
Atrial Septal Defect, Ostium Primum Type	Tachypnea, Left ventricular hypertrophy	ORPHA:99106
Granulomatous Disease, Chronic, X-Linked	Liver abscess, Hepatomegaly, Lymphadenopathy, Lymphadenitis, Ascites, Splenomegaly, Impaired oxid...	OMIM:306400
Tick-Borne Encephalitis	Increased circulating IgG level, Leukocytosis, Increased circulating IgM level, Thrombocytopenia,...	ORPHA:297
Fanconi Anemia	Anemia, Hypospadias, Abnormal preputium morphology, Azoospermia, Decreased fertility in males, Bi...	ORPHA:84
Cog8-Cdg	Prolonged prothrombin time, Spontaneous hematomas	ORPHA:95428
Hypomagnesemia 3, Renal	Elevated circulating parathyroid hormone level, Hypocalcemic seizures, Increased circulating beta...	OMIM:248250
Digeorge Syndrome	Anemia, Cholelithiasis, Hypocalcemia, Hypoplasia of the thymus, Hypothyroidism, Parathyroid hypop...	OMIM:188400
Igg4-Related Dacryoadenitis And Sialadenitis	Lymphadenopathy, Increased circulating IgA level, Increased circulating IgM level, Increased circ...	ORPHA:79078
Sarcoidosis, Susceptibility To, 1	Hepatomegaly, Mediastinal lymphadenopathy, Increased circulating antibody level, Pancytopenia, Bo...	OMIM:181000
Systemic Lupus Erythematosus	Thrombocytopenia, Leukopenia, Lymphadenopathy, Hemolytic anemia	ORPHA:536
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome	Prolonged prothrombin time, Hepatomegaly, Tarsal sclerosis, Reduced bone mineral density, Scleros...	ORPHA:404454
Mitochondrial Complex Iv Deficiency, Nuclear Type 5	Hypospadias, Microvesicular hepatic steatosis, Hyperammonemia, Left ventricular hypertrophy, Tach...	OMIM:220111
Infection-Related Hemolytic Uremic Syndrome	Hyperkalemia, Pancreatitis, Hypocalcemia, Leukocytosis, Hyponatremia, Thrombocytopenia, Diabetes ...	ORPHA:544482
Congenital Disorder Of Glycosylation, Type It	Prolonged prothrombin time, Hepatomegaly, Intrahepatic cholestasis, Increased hepatic glycogen co...	OMIM:614921
Truncus Arteriosus	Adrenocortical abnormality, Hypoplasia of the thymus, Right ventricular hypertrophy, Cardiomegaly...	ORPHA:3384
Ogden Syndrome	Enlarged kidney, Jaundice, Macrovesicular hepatic steatosis, Iron deficiency anemia, Maternal dia...	OMIM:300855
Nijmegen Breakage Syndrome	Autoimmune hemolytic anemia, Acute leukemia, Thrombocytopenia, Hemolytic anemia	ORPHA:647
Reynolds Syndrome	Calcinosis, Jaundice, Hepatomegaly, Hyperbilirubinemia, Cholestasis, Biliary cirrhosis, Splenomeg...	OMIM:613471
S-Adenosylhomocysteine Hydrolase Deficiency	Abnormality of the liver, Prolonged prothrombin time, Hepatocellular carcinoma	ORPHA:88618
Sarcoidosis	Abnormal liver parenchyma morphology, Enlarged lacrimal glands, Hepatomegaly, Anemia, Lymphadenop...	ORPHA:797
Noonan Syndrome 9	Prolonged prothrombin time	OMIM:616559
Cornelia De Lange Syndrome 1	Hypospadias, Hypoplastic male external genitalia, Hypoplastic nipples, Duplication of internal or...	OMIM:122470
Orofaciodigital Syndrome Type 2	Hypoplastic male external genitalia, Tachypnea, Apnea	ORPHA:2751
22Q11.2 Deletion Syndrome	Hypoparathyroidism, Hypospadias, Cholelithiasis, Hypocalcemia, Abnormality of the tonsils, Hypopl...	ORPHA:567
Immunodeficiency 82 With Systemic Inflammation	Decreased circulating total IgG, Anemia, Lymphadenopathy, B lymphocytopenia, Decreased proportion...	OMIM:619381
Monosomy 13Q34	Prolonged prothrombin time, Hematochezia, Hepatic steatosis, Epistaxis	ORPHA:96168
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1	Premature ovarian insufficiency, Secondary amenorrhea, Hypergonadotropic hypogonadism, Primary am...	OMIM:157640
Goodpasture Syndrome	Increased blood urea nitrogen, Tachypnea, Anemia	OMIM:233450
Jacobsen Syndrome	Bone marrow hypocellularity, Annular pancreas, Thrombocytopenia	ORPHA:2308
Roberts Syndrome	Craniosynostosis, Thrombocytopenia	ORPHA:3103
Combined Oxidative Phosphorylation Deficiency 37	Prolonged prothrombin time, Macrovesicular hepatic steatosis, Bile duct proliferation	OMIM:618329
Aortic Arch Interruption	Left ventricular hypertrophy, Tachypnea, Respiratory distress	ORPHA:2299
Osteogenesis Imperfecta	Osteopenia, Reduced bone mineral density, Abnormal cortical bone morphology, Decreased skull ossi...	ORPHA:666
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency	Prolonged prothrombin time, Hepatic necrosis, Hepatic steatosis	ORPHA:71212
Aicardi-Goutières Syndrome	Chronic lymphatic leukemia, Neonatal alloimmune thrombocytopenia, Prolonged neonatal jaundice, He...	ORPHA:51
Joubert Syndrome 5	Central apnea, Episodic tachypnea	OMIM:610188
Steinert Myotonic Dystrophy	Decreased fertility, Decreased response to growth hormone stimulation test, Hyperinsulinemia, Abn...	ORPHA:273
X-Linked Intellectual Disability, Snyder Type	Testicular atrophy, Cryptorchidism, Hypospadias, Abnormality of the Leydig cells	ORPHA:3063
Mitochondrial Complex Iv Deficiency, Nuclear Type 12	Prolonged prothrombin time, Intraventricular hemorrhage	OMIM:619055
Noonan Syndrome 1	Bruising susceptibility, Juvenile myelomonocytic leukemia, Abnormal bleeding, Amegakaryocytic thr...	OMIM:163950
Ornithine Transcarbamylase Deficiency, Hyperammonemia Due To	Prolonged prothrombin time	OMIM:311250

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

Phenotype	Allele	Zygosity	Sex	Life Stage
Spleen - MPATH pathological process term hyperplasia	Mpig6b^{tm1.1(KOMP)Vlcg}	HOM		Early adult

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Mpig6b.

There are 1 publication which use IMPC produced mice or data.

Title	Journal	IMPC Allele	PubMed ID
Transcriptome Analysis of Targeted Mouse Mutations Reveals the Topography of Local Changes in Gene Expression.	PLoS genetics (February 2016)	Mpig6b^{tm1(KOMP)Vlcg}	PMC4739719

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All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele	Allele Type	Produced
Mpig6b^{tm1(KOMP)Wtsi}	Reporter-tagged deletion allele (with selection cassette)	Targeting vectors, ES Cells
Mpig6b^{tm1(KOMP)Vlcg}	Reporter-tagged deletion allele (with selection cassette)	Mice, ES Cells
Mpig6b^{tm1.1(KOMP)Vlcg}	Reporter-tagged deletion allele (post Cre, with no selection cassette)	Mice, Tissue
Mpig6b^{tm210463(L1L2_Pgk_P)}	Reporter-tagged deletion allele (with selection cassette)	Targeting vectors

Sequence

Guides

Sequence	Guide sequence	pam	chr	start	stop	strand	Genome build	gRNA Concentration	Truncated Guide	Reversed	Sanger service	Guide format	Guide source

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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Gene: Mpig6b MGI:2146995

Gene Summary

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Phenotypes

lacZ Expression

Associated Images

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Histopathology

Human diseases caused by Mpig6b mutations

Histopathology

IMPC related publications

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Access Data Release 21.0 Data