Genes Phenotypes Help, News, Blog

Please enable javascript if you want to log in to follow or stop following this gene.

Gene: Sipa1 MGI:107576

Gene Summary

Name:

signal-induced proliferation associated gene 1

Synonyms:

SPA-1

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	System	Allele	Zyg	Sex	Life Stage	P Value
head bobbing		Sipa1^{tm1b(EUCOMM)Hmgu}	HOM		Early adult	7.26×10^-05

Download data as: TSV XLS

Select physiological systems to view:

Viewing: all phenotypes

Select physiological systems to view:

Viewing: all phenotypes

lacZ Expression

No Adult expression data was found for this gene.

An assay measuring the expression of lacZ shows the tissue where the gene is expressed.

Anatomy	Images	Zygosity	Mutant Expr
Brain	N/A	heterozygote	100% (2 of 2)
Brain	N/A	homozygote	100% (2 of 2)
Ear	N/A	heterozygote	0.0% (0 of 2)
Ear	N/A	homozygote	Not available
Embryo	N/A	heterozygote	100% (2 of 2)
Embryo	N/A	homozygote	100% (2 of 2)
Eye	N/A	heterozygote	50% (1 of 2)
Eye	N/A	homozygote	50% (1 of 2)
Footplate	N/A	heterozygote	50% (1 of 2)
Footplate	N/A	homozygote	100% (2 of 2)
Forebrain	N/A	heterozygote	100% (2 of 2)
Forebrain	N/A	homozygote	100% (2 of 2)
Forelimb	N/A	heterozygote	100% (2 of 2)
Forelimb	N/A	homozygote	100% (2 of 2)
Handplate	N/A	heterozygote	100% (2 of 2)
Handplate	N/A	homozygote	100% (2 of 2)
Head	N/A	heterozygote	100% (2 of 2)
Head	N/A	homozygote	100% (2 of 2)
Heart	N/A	heterozygote	50% (1 of 2)
Heart	N/A	homozygote	50% (1 of 2)
Hindbrain	N/A	heterozygote	100% (2 of 2)
Hindbrain	N/A	homozygote	100% (2 of 2)
Hindlimb	N/A	heterozygote	100% (2 of 2)
Hindlimb	N/A	homozygote	100% (2 of 2)
Liver	N/A	heterozygote	50% (1 of 2)
Liver	N/A	homozygote	50% (1 of 2)
Lung	N/A	heterozygote	50% (1 of 2)
Lung	N/A	homozygote	50% (1 of 2)
Mandibular process	N/A	heterozygote	50% (1 of 2)
Mandibular process	N/A	homozygote	50% (1 of 2)
Maxillary process	N/A	heterozygote	50% (1 of 2)
Maxillary process	N/A	homozygote	50% (1 of 2)
Midbrain	N/A	heterozygote	100% (2 of 2)
Midbrain	N/A	homozygote	100% (2 of 2)
Oral cavity	N/A	heterozygote	0.0% (0 of 2)
Oral cavity	N/A	homozygote	0.0% (0 of 2)
Skin	N/A	heterozygote	0.0% (0 of 2)
Skin	N/A	homozygote	0.0% (0 of 2)
Tail somite	N/A	heterozygote	0.0% (0 of 2)
Tail somite	N/A	homozygote	0.0% (0 of 2)
Tail	N/A	heterozygote	100% (2 of 2)
Tail	N/A	homozygote	100% (2 of 2)

Background staining occurs in wild type mice and embryos at an incidental rate.

Anatomy	Background staining in controls (WT)

Background staining occurs in wild type mice and embryos at an incidental rate.

Background staining occurs in wild type embryos at a measurable rate.

Anatomy	Background staining in controls(WT)
brain	0.0%
ear	0.0%
embryo	0.0%
eye	0.0%
footplate	0.0%
forebrain	0.0%
forelimb	0.0%
handplate	0.0%
head	0.0%
heart	0.0%
hindbrain	0.0%
hindlimb	0.0%
liver	0.0%
lung	0.0%
mandibular process	0.0%
maxillary process	0.0%
midbrain	0.0%
oral cavity	0.0%
skin	0.0%
tail	0.0%
tail somite group	0.0%

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

11 Images

View images

X-ray

XRay Images Whole Body Lateral Orientation

11 Images

View images

X-ray

XRay Images Skull Dorso Ventral Orientation

11 Images

View images

Embryo LacZ

LacZ images wholemount

8 Images

View images

Auditory Brain Stem Response

Click-evoked + 6 to 30kHz tone waveforms (pdf format)

4 Images

View images

Human diseases caused by Sipa1 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 Sipa1 (0 diseases)
Human diseases predicted to be associated with Sipa1 (800 diseases)

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Sipa1 by phenotypic similarity.

Disease	Matching phenotypes	Source
Erythroleukemia, Familial, Susceptibility To	Erythroid hyperplasia, Splenomegaly, Hepatomegaly, Anemia, Acute myeloid leukemia, Thrombocytopen...	OMIM:133180
Myeloproliferative Syndrome, Transient	Leukocytosis, Transient myeloproliferative syndrome	OMIM:159595
Immunodeficiency 16	Pancytopenia, Coombs-positive hemolytic anemia, Splenomegaly, Kaposi's sarcoma	OMIM:615593
Acquired Idiopathic Sideroblastic Anemia	Hypochromic anemia, Pancytopenia, Anemia of inadequate production, Acute myeloid leukemia, Neutro...	ORPHA:75564
Acute Erythroid Leukemia	Bone marrow hypocellularity, Monoclonal immunoglobulin M proteinemia, Pancytopenia, Leukopenia, B...	ORPHA:318
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells	Decreased helper T cell proportion, Pancytopenia, Splenomegaly, Hypersplenism	OMIM:183350
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2	Bone marrow hypocellularity, Increased mean corpuscular volume, Megakaryocyte dysplasia, Pancytop...	OMIM:619041
Lymphoblastic Leukemia, Acute, With Lymphomatous Features	T-cell acute lymphoblastic leukemias, Acute lymphoblastic leukemia, Lymphoma	OMIM:247640
Asperger Syndrome, Susceptibility To, 1	Restrictive behavior, Motor stereotypy, Inflexible adherence to routines	OMIM:608638
Asperger Syndrome, Susceptibility To, 2	Restrictive behavior, Motor stereotypy, Inflexible adherence to routines	OMIM:608631
Ras-Associated Autoimmune Leukoproliferative Disorder	Lymphoma, Pancytopenia, Splenomegaly, Follicular hyperplasia, Hepatomegaly, Lymphocytosis, Neutro...	OMIM:614470
Diamond-Blackfan Anemia 19	Anemia, Erythroid hypoplasia, Steroid-responsive anemia	OMIM:618312
Neutropenia, Severe Congenital, 5, Autosomal Recessive	Extramedullary hematopoiesis, Leukopenia, Splenomegaly, Hepatomegaly, Thrombocytopenia, Neutropen...	OMIM:615285
Leukemia, Chronic Myeloid	Chronic myelogenous leukemia, Ph-positive acute lymphoblastic leukemia	OMIM:608232
Diamond-Blackfan Anemia-Like	Steroid-responsive anemia, Pure red cell aplasia	OMIM:617911
Myeloproliferative Disorder, Chronic, With Eosinophilia	Eosinophilia, Myeloproliferative disorder, Malignant eosinophil proliferation	OMIM:131440
Macroglobulinemia, Waldenstrom, Susceptibility To, 1	Leukemia, Monoclonal immunoglobulin M proteinemia, Impaired lymphocyte transformation with phytoh...	OMIM:153600
Immunodeficiency 69	Hemophagocytosis, Hepatosplenomegaly, Pancytopenia, Leukocytosis, Splenomegaly, Thrombocytosis, A...	OMIM:618963
Leukemia, Chronic Lymphocytic	Chronic lymphatic leukemia	OMIM:151400
Leukemia, Chronic Lymphocytic, Susceptibility To, 2	Chronic lymphatic leukemia	OMIM:109543
Transient Erythroblastopenia Of Childhood	Anemia, Transient erythroblastopenia	OMIM:227050
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1	Acute myeloid leukemia, Increased mean corpuscular volume, Thrombocytopenia, Myelodysplasia	OMIM:252270
Myelocytic Leukemia-Like Syndrome, Familial, Chronic	Chronic myelogenous leukemia	OMIM:600080
Juvenile Myelomonocytic Leukemia	Juvenile myelomonocytic leukemia	OMIM:607785
Amegakaryocytic Thrombocytopenia, Congenital, 1	Megakaryocytopenia, Pancytopenia, Thrombocytopenia, Amegakaryocytic thrombocytopenia	OMIM:604498
Neutrophilia, Hereditary	Granulocytic hyperplasia, Myelodysplasia, Splenomegaly, Neutrophilia	OMIM:162830
Acute Panmyelosis With Myelofibrosis	Bone marrow hypocellularity, Acute myelomonocytic leukemia, Abnormality of bone marrow stromal ce...	ORPHA:86843
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality	Bone marrow hypocellularity, Abnormality of bone marrow stromal cells, Abnormal neutrophil morpho...	ORPHA:86841
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 9	Leukemia, Leukopenia	OMIM:620400
Ataxia-Pancytopenia Syndrome	Acute myelomonocytic leukemia, Pancytopenia, Abnormal macrophage morphology, Splenomegaly, Hypopl...	ORPHA:2585
Bone Marrow Failure Syndrome 1	Bone marrow hypocellularity, Pancytopenia, Myelodysplasia, Aplastic anemia	OMIM:614675
Intellectual Developmental Disorder, Autosomal Dominant 50, With Behavioral Abnormalities	Attention deficit hyperactivity disorder, Motor stereotypy	OMIM:617787
Systemic Mastocytosis With Associated Hematologic Neoplasm	Chronic lymphatic leukemia, Acute myeloid leukemia, Hematological neoplasm, Neutrophilia, Hepatom...	ORPHA:98849
Diamond-Blackfan Anemia 17	Anemia	OMIM:617409
Alpha-Thalassemia-Myelodysplastic Syndrome	Acute leukemia, HbH hemoglobin, Microcytic anemia, Splenomegaly, Neutropenia, Thrombocytopenia, M...	ORPHA:231401
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease	Hemophagocytosis, Colon cancer, Hepatosplenomegaly, Pancytopenia, Hodgkin lymphoma, Acute myeloid...	ORPHA:158057
Primary Myelofibrosis	Abnormal bone marrow cell morphology, Extramedullary hematopoiesis, Hepatosplenomegaly, Pancytope...	ORPHA:824
Diamond-Blackfan Anemia 18	Erythroid hypoplasia, Granulocytic hypoplasia, Neutropenia, Steroid-responsive anemia	OMIM:618310
Neutropenia, Nonimmune Chronic Idiopathic, Of Adults	Acute myeloid leukemia, Neutropenia	OMIM:607847
Myeloproliferative Disease, Autosomal Recessive	Myeloproliferative disorder	OMIM:254700
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 2	Bone marrow hypocellularity, Aplastic anemia, Pancytopenia, Cirrhosis, Myeloid leukemia, Leukemia	OMIM:614743
Ataxia-Pancytopenia Syndrome	Acute myelomonocytic leukemia, Pancytopenia, Thrombocytopenia, Neutropenia, Anemia, Hypoplastic a...	OMIM:159550
Fanconi Anemia, Complementation Group G	Anemia, Neutropenia, Thrombocytopenia, Leukemia, Myelodysplasia	OMIM:614082
Hypereosinophilic Syndrome, Idiopathic	Hepatomegaly, Eosinophilia, Myeloproliferative disorder, Splenomegaly	OMIM:607685
Anemia, Sideroblastic, 4	Sideroblastic anemia, Abnormal erythrocyte morphology, Refractory anemia with ringed sideroblasts	OMIM:182170
Fanconi Anemia, Complementation Group T	Bone marrow hypocellularity, Pancytopenia, Acute myeloid leukemia, Thrombocytopenia, Anemia	OMIM:616435
Hemoglobin H Disease	HbH hemoglobin, Splenomegaly, Hepatomegaly, Reduced alpha/beta synthesis ratio, Hemolytic anemia	OMIM:613978
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To	Bone marrow hypocellularity, Lymphoma, Leukopenia, Acute myeloid leukemia, Monocytosis, Myelodysp...	OMIM:616871
Immunodeficiency 105	Reduced natural killer cell count, Absence of lymph node germinal center, Lymphopenia, Hepatosple...	OMIM:619924
Autism, Susceptibility To, X-Linked 3	Restrictive behavior, Motor stereotypy, Inflexible adherence to routines	OMIM:300496
Autism, Susceptibility To, X-Linked 1	Restrictive behavior, Motor stereotypy, Inflexible adherence to routines	OMIM:300425
Myelofibrosis	Hemophagocytosis, Extramedullary hematopoiesis, Splenomegaly, Hepatomegaly, Myelofibrosis, Myelop...	OMIM:254450
Hemoglobin D Disease	Reduced beta/alpha synthesis ratio, Reduced hemoglobin A, Imbalanced hemoglobin synthesis, Spleno...	ORPHA:90039
Chloramphenicol Toxicity	Aplastic anemia	OMIM:515000
Immunodeficiency 21	Reduced natural killer cell count, Aplastic anemia, Lymphopenia, Megakaryocyte nucleus hypolobula...	OMIM:614172
Amegakaryocytic Thrombocytopenia, Congenital, 2	Bone marrow hypocellularity, Aplastic anemia, Pancytopenia, Thrombocytopenia, Neutropenia, Anemia	OMIM:620481
Leukocyte Adhesion Deficiency, Type Iii	Extramedullary hematopoiesis, Abnormal lymph node morphology, Hepatosplenomegaly, Leukocytosis, S...	OMIM:612840
Bone Marrow Failure And Diabetes Mellitus Syndrome	Pancytopenia, T-cell acute lymphoblastic leukemias, Increased mean corpuscular volume	OMIM:620044
Chronic Myeloid Leukemia	Abnormal granulocyte morphology, Leukocytosis, Splenomegaly, Abnormal basophil morphology, Thromb...	ORPHA:521
Neutropenia, Severe Congenital, 1, Autosomal Dominant	Acute monocytic leukemia, Congenital agranulocytosis, Thrombocytosis, Eosinophilia, Neutropenia, ...	OMIM:202700
Leukemia, Acute Lymphoblastic	Acute lymphoblastic leukemia	OMIM:613065
Leukemia, Acute Monocytic	Acute monocytic leukemia	OMIM:151380
Leukemia, Acute Myeloid	Acute myeloid leukemia	OMIM:601626
Lymphedema, Primary, With Myelodysplasia	Verrucae, Pancytopenia, Decreased CD4:CD8 ratio, Acute myeloid leukemia, Leukemia, Myelodysplasia	OMIM:614038
Leukemia, Acute, X-Linked	Acute leukemia	OMIM:308960
Immunodeficiency 109 With Lymphoproliferation	Pancytopenia, Splenomegaly, Hodgkin lymphoma, Absent circulating B cells, Generalized lymphadenop...	OMIM:620282
Beta-Thalassemia, Dominant Inclusion Body Type	Persistence of hemoglobin F, Microcytic anemia, Splenomegaly, Erythrocyte inclusion bodies, Hepat...	OMIM:603902
Immunodeficiency 36 With Lymphoproliferation	Lymphopenia, Splenomegaly, Chronic lymphatic leukemia, B-cell lymphoma, Increased proportion of t...	OMIM:616005
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome	Anemia, Hepatomegaly, Splenomegaly, Persistence of hemoglobin F	ORPHA:46532
Dysplasia Of Head Of Femur, Meyer Type	Enlarged tonsils, Leukocytosis	ORPHA:168621
Familial Thrombocytosis	Chronic myelogenous leukemia, Splenomegaly, Acute myeloid leukemia, Thrombocytosis, Myelodysplasia	ORPHA:71493
Reticuloendotheliosis, X-Linked	Anemia, Jaundice, Hepatosplenomegaly, Lymphadenopathy	OMIM:312500
Essential Thrombocythemia	Acute leukemia, Abnormal bone marrow cell morphology, Increased multinucleated megakaryocyte coun...	ORPHA:3318
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 1	Bone marrow hypocellularity, Aplastic anemia, Pancytopenia, Cirrhosis, Myeloid leukemia, Anemia, ...	OMIM:614742
Mismatch Repair Cancer Syndrome 2	Glioblastoma multiforme, T-cell acute lymphoblastic leukemias, Colon cancer	OMIM:619096
Immunodeficiency, Common Variable, 13	Pancytopenia, Acute lymphoblastic leukemia, B lymphocytopenia	OMIM:616873
Lymphoproliferative Syndrome 1	Hemophagocytosis, Pancytopenia, Leukopenia, Decreased proportion of CD4-positive helper T cells, ...	OMIM:613011
Lymphoproliferative Syndrome 2	Aplastic anemia, Hemophagocytosis, Lymphoma, Ascites, Hepatosplenomegaly, Pancytopenia, Splenomeg...	OMIM:615122
Hemoglobin C-Beta-Thalassemia Syndrome	Anemia, Splenomegaly, Microcytic anemia, Abnormal hemoglobin	ORPHA:231242
Leukemia, Acute Myelocytic, With Polyposis Coli And Colon Cancer	Colon cancer, Acute myeloid leukemia, Adenomatous colonic polyposis	OMIM:246470
Autoimmune Hemolytic Anemia, Warm Type	Splenomegaly, Autoimmune hemolytic anemia, Chronic lymphatic leukemia, Jaundice, Lymphoproliferat...	ORPHA:90033
Transcobalamin Deficiency	Lymphopenia, Pancytopenia, Megaloblastic bone marrow, Thrombocytopenia, Neutropenia	ORPHA:859
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne	Microcytic anemia, Hepatosplenomegaly, Pancytopenia, Sterile abscess, Thrombocytosis	OMIM:604416
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome	Hepatomegaly, Splenomegaly	ORPHA:2274
Unclassified Myelodysplastic Syndrome	Bone marrow hypocellularity, Myelodysplasia, Leukocytosis, Acute myeloid leukemia, Multiple linea...	ORPHA:98827
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive	Anemia, Leukocytosis	OMIM:619398
X-Linked Sideroblastic Anemia And Spinocerebellar Ataxia	Anemia	ORPHA:2802
Alpha-Thalassemia	Cholelithiasis, Extramedullary hematopoiesis, Microcytic anemia, Hemoglobin Barts, Hepatosplenome...	ORPHA:846
Erythrocytosis, Familial, 8	Polycythemia, Increased hematocrit, Splenomegaly, Increased circulating hemoglobin concentration,...	OMIM:222800
Hemoglobin-Delta locus	Anemia, Imbalanced hemoglobin synthesis	OMIM:142000
Lymphoproliferative Syndrome, X-Linked, 2	Aplastic anemia, Hemophagocytosis, Hepatitis, Pancytopenia, Splenomegaly, Hepatomegaly	OMIM:300635
Parasomnia, Sleep Bruxism Type	Bruxism	OMIM:606840
Intrauterine Growth Retardation With Increased Mitomycin C Sensitivity	Pancytopenia	OMIM:600546
T-Cell Lymphoma, Subcutaneous Panniculitis-Like	Hemophagocytosis, Pancytopenia, Splenomegaly, Anemia, Subcutaneous panniculitis-like T-cell lymphoma	OMIM:618398
Chromosome 5Q Deletion Syndrome	Anemia of inadequate production, Erythroid hypoplasia, Megakaryocyte nucleus hypolobulation, Refr...	OMIM:153550
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome	Anemia, Splenomegaly, Thrombocytopenia, Abnormal hemoglobin	ORPHA:231393
Glycoprotein Storage Disease	Splenomegaly	OMIM:232900
Lymphoproliferative Syndrome, X-Linked, 1	Abnormal T cell count, Aplastic anemia, Hemophagocytosis, Lymphoma, Pancytopenia, Abnormal B cell...	OMIM:308240
Agammaglobulinemia 8B, Autosomal Recessive	B Acute Lymphoblastic Leukemia, Pancytopenia, Splenomegaly, Increased proportion of effector memo...	OMIM:619824
Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, And Migraine Headache Syndrome	Pancytopenia, Splenomegaly	OMIM:614979
Autism	Restrictive behavior, Motor stereotypy, Inflexible adherence to routines	OMIM:209850
Autism, Susceptibility To, 8	Restrictive behavior, Motor stereotypy, Inflexible adherence to routines	OMIM:607373
Diamond-Blackfan Anemia 13	Normocytic anemia, Elevated red cell adenosine deaminase activity	OMIM:615909
Glioma Susceptibility 3	T-cell acute lymphoblastic leukemias, B Acute Lymphoblastic Leukemia, Medulloblastoma, Nephroblas...	OMIM:613029
Persistent Polyclonal B-Cell Lymphocytosis	Hepatomegaly, Lymphocytosis, Splenomegaly	OMIM:606445
Chorea, Childhood-Onset, With Psychomotor Retardation	Abnormal head movements	OMIM:616939
Hemoglobin E-Beta-Thalassemia Syndrome	Anemia, Abnormal hemoglobin	ORPHA:231249
Fanconi-Like Syndrome	Multiple cutaneous malignancies, Pancytopenia	OMIM:227850
Leishmaniasis	Pancytopenia, Leukopenia, Splenomegaly, Abnormal macrophage morphology, Hepatomegaly, Lymphadenop...	ORPHA:507
Aicardi-Goutieres Syndrome 4	Hepatosplenomegaly, Pancytopenia, Splenomegaly, Thrombocytopenia, Hepatomegaly	OMIM:610333
Mantle Cell Lymphoma	B-cell lymphoma, Abnormal bone marrow cell morphology, Splenomegaly, Lymphadenopathy	ORPHA:52416
Neutrophil Immunodeficiency Syndrome	Abnormality of neutrophil physiology, Leukocytosis	ORPHA:183707
Aplastic Anemia	Bone marrow hypocellularity, Aplastic anemia	OMIM:609135
Generalized Eruptive Histiocytosis	Leukemia, Hypereosinophilia, Histiocytosis	ORPHA:157991
Trimethylaminuria	Anemia, Splenomegaly, Neutropenia	OMIM:602079
Hyperbilirubinemia, Shunt, Primary	Erythroid hyperplasia, Splenomegaly, Anemia of inadequate production, Reticulocytosis, Hepatomega...	OMIM:237800
Neutropenia, Severe Congenital, 9, Autosomal Dominant	Myeloid maturation arrest, Splenomegaly	OMIM:619813
Aggressive Systemic Mastocytosis	Ascites, Hepatosplenomegaly, Pancytopenia, Hypersplenism, Leukocytosis, Increased proportion of C...	ORPHA:98850
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia	Hypersegmentation of neutrophil nuclei, Lymphopenia, Pancytopenia, Macrocytic anemia, Anemia of i...	OMIM:617780
Neutropenia, Severe Congenital, 10, Autosomal Recessive	Anorectal abscess, Dysplastic granulopoesis, Monocytosis, Thrombocytopenia, Bone marrow arrest at...	OMIM:620534
Eosinophilia, Familial	Anemia, Eosinophilia, Leukocytosis, Thrombocytopenia	OMIM:131400
Gaucher Disease, Type Iii	Hepatomegaly, Pancytopenia, Splenomegaly, Thrombocytopenia	OMIM:231000
Autoinflammatory-Pancytopenia Syndrome	Cholestatic liver disease, Hepatic fibrosis, Granuloma, Hemophagocytosis, Hepatosplenomegaly, Pan...	OMIM:619858
Griscelli Syndrome Type 2	Hemophagocytosis, Pancytopenia, Splenomegaly, Lymphadenopathy, Neutropenia, Hepatomegaly, Jaundice	ORPHA:79477
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism	Jaundice, Splenomegaly, Nonspherocytic hemolytic anemia	OMIM:206400
Anemia, Sideroblastic, 2, Pyridoxine-Refractory	Anemia, Sideroblastic anemia, Decreased mean corpuscular volume, Hypochromia	OMIM:205950
Hemophagocytic Lymphohistiocytosis, Familial, 3	Anemia, Hepatosplenomegaly, Hemophagocytosis, Granulocytopenia	OMIM:608898
Immunodeficiency 84	B-cell lymphoma, Perianal abscess, Splenomegaly, B lymphocytopenia	OMIM:619437
Nut Midline Carcinoma	Ewing sarcoma, Neoplasm, Oropharyngeal squamous cell carcinoma, Pancreatoblastoma, Squamous cell ...	ORPHA:443167
Dohle Bodies And Leukemia	Anemia, Acute myeloid leukemia, Leukocyte inclusion bodies	OMIM:223350
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome	Hepatitis, Lymphopenia, Splenomegaly, Autoimmune hemolytic anemia, Lymphadenopathy, Autoimmune th...	ORPHA:444463
Hemoglobin E Disease	Increased red blood cell count, Reduced hemoglobin A, Drug-sensitive hemolytic anemia, Splenomega...	ORPHA:2133
Thrombocytopenia 5	Increased mean corpuscular volume, B Acute Lymphoblastic Leukemia, Neutropenia, Thrombocytopenia,...	OMIM:616216
Spherocytosis, Type 5	Abnormal leukocyte count, Splenomegaly, Reticulocytosis, Abnormal platelet count, Spherocytosis, ...	OMIM:612690
Idiopathic Aplastic Anemia	Bone marrow hypocellularity, Pancytopenia, Reticulocytopenia, Thrombocytopenia, Neutropenia, Anemia	ORPHA:88
Smith-Magenis syndrome	Motor stereotypy, Hyperactivity, Self-mutilation	DECIPHER:8
Autoinflammation With Infantile Enterocolitis	Reduced natural killer cell count, Pancytopenia, Splenomegaly, Thrombocytopenia, Anemia	OMIM:616050
Li-Fraumeni Syndrome	Choriocarcinoma, Colon cancer, Stomach cancer, Melanoma, Hodgkin lymphoma, Acute myeloid leukemia...	ORPHA:524
Li-Fraumeni Syndrome	Choriocarcinoma, Acute leukemia, Osteosarcoma, Prostate cancer, Nephroblastoma, Lung adenocarcino...	OMIM:151623
Neutropenia, Severe Congenital, 3, Autosomal Recessive	Acute lymphoblastic leukemia, Neutropenia, Myelodysplasia	OMIM:610738
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia	Abnormally low T cell receptor excision circle level, Lymphadenitis, Lymphopenia, Hepatosplenomeg...	OMIM:618986
Red Cell Phospholipid Defect With Hemolysis	Splenomegaly, Reticulocytosis, Intermittent jaundice	OMIM:179700
Refractory Anemia	Normocytic anemia, Bone marrow hypocellularity, Anemia of inadequate production, Macrocytic anemi...	ORPHA:98826
Sweet Syndrome	Neoplasm, Leukocytosis, Chronic lymphatic leukemia, Acute myeloid leukemia, Hematological neoplas...	ORPHA:3243
Acute Monoblastic/Monocytic Leukemia	Hypochromic anemia, Acute monocytic leukemia, Cervical lymphadenopathy, Leukocytosis, Bone marrow...	ORPHA:514
Isovaleric Acidemia	Bone marrow hypocellularity, Pancytopenia, Leukopenia, Thrombocytopenia	OMIM:243500
Beta-Thalassemia Intermedia	Cholelithiasis, Extramedullary hematopoiesis, Persistence of hemoglobin F, Hepatosplenomegaly, Er...	ORPHA:231222
Amed Syndrome, Digenic	Bone marrow hypocellularity, Leukopenia, Acute myeloid leukemia, Thrombocytopenia, Anemia, Myelod...	OMIM:619151
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 6	Abnormally low T cell receptor excision circle level, Bone marrow hypocellularity, Lymphopenia, P...	OMIM:619767
Neonatal Lupus Erythematosus	Aplastic anemia, Pancytopenia, Abnormality of the liver, Splenomegaly, Hepatomegaly, Neutropenia,...	ORPHA:398124
Deafness-Lymphedema-Leukemia Syndrome	Bone marrow hypocellularity, Acute leukemia, Leukocytosis, Splenomegaly, Lymphadenopathy, Thrombo...	ORPHA:3226
Anemia, Congenital Dyserythropoietic, Type Ib	Erythroid hyperplasia, Splenomegaly, Anemia of inadequate production, Anisocytosis, Reticulocytos...	OMIM:615631
Chromosome 14Q32 Duplication Syndrome, 700-Kb	Chronic myelomonocytic leukemia, Acute myeloid leukemia	OMIM:616604
Bone Marrow Failure Syndrome 2	Anemia, Bone marrow hypocellularity, Leukopenia, Thrombocytopenia	OMIM:615715
Anemia, Sideroblastic, 5	Reduced hematocrit, Hypochromic microcytic anemia, Thrombocytopenia, Anemia, Neutropenia, Refract...	OMIM:619523
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome	Splenic infarction, Persistence of hemoglobin F, Increased red cell sickling tendency, Reticulocy...	ORPHA:251380
Immunodeficiency 60 And Autoimmunity	Decreased proportion of memory B cells, Pancytopenia, Decreased basophil count, Splenomegaly	OMIM:618394
Hereditary Spherocytosis	Spontaneous hemolytic crises, Cholelithiasis, Increased mean corpuscular hemoglobin concentration...	ORPHA:822
Aregenerative Anemia	Bone marrow hypocellularity, Abnormal bone marrow cell morphology, Pancytopenia, Decreased propor...	ORPHA:101096
Refractory Anemia With Excess Blasts	Abnormal mean corpuscular volume, Bone marrow hypocellularity, Abnormal bone marrow cell morpholo...	ORPHA:86839
Combined Oxidative Phosphorylation Deficiency 34	Hepatomegaly, Pancytopenia, Hepatic steatosis	OMIM:617872
Heinz Body Anemias	Heinz bodies, Nonspherocytic hemolytic anemia, Heinz body anemia	OMIM:140700
Congenital Atransferrinemia	Anemia, Abnormality of the pancreas	ORPHA:1195
N Syndrome	Leukemia, Neoplasm	OMIM:310465
Osteopetrosis, Autosomal Recessive 2	Extramedullary hematopoiesis, Hepatosplenomegaly, Pancytopenia, Thrombocytopenia, Anemia	OMIM:259710
Intellectual Developmental Disorder, X-Linked 72	Motor stereotypy, Hyperactivity	OMIM:300271
Acute Myelomonocytic Leukemia	Anemia, Eosinophilia, Leukocytosis, Thrombocytopenia	ORPHA:517
Gaucher Disease, Type I	Pancytopenia, Hypersplenism, Splenomegaly, Hepatomegaly, Thrombocytopenia, Anemia, Multiple myeloma	OMIM:230800
Nephronophthisis	Anemia	ORPHA:655
Adenosine Triphosphate, Elevated, Of Erythrocytes	Reduced erythrocyte 2,3-diphosphoglycerate concentration, Polycythemia	OMIM:102900
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency	Increased mean corpuscular volume, Pancytopenia, Megaloblastic anemia, Thrombocytopenia, Hepatome...	OMIM:613839
Adenylate Kinase Deficiency, Hemolytic Anemia Due To	Hemolytic anemia, Reduced erythrocyte adenylate kinase activity	OMIM:612631
Thanatophoric Dysplasia, Glasgow Variant	Anemia, Hepatosplenomegaly	OMIM:273680
Cyanosis, Transient Neonatal	Reticulocytosis, Methemoglobinemia, Hepatomegaly, Anemia, Jaundice	OMIM:613977
Cerebroretinal Microangiopathy With Calcifications And Cysts 2	Abnormally low T cell receptor excision circle level, Bone marrow hypocellularity, Hepatic fibros...	OMIM:617341
Isobutyryl-Coa Dehydrogenase Deficiency	Anemia	OMIM:611283
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency	Reduced red cell pyruvate kinase level, Congenital hemolytic anemia, Abnormal erythrocyte morphol...	ORPHA:766
Anemia, Congenital Dyserythropoietic, Type Ii	Cholelithiasis, Splenomegaly, Anemia of inadequate production, Reticulocytosis, Jaundice	OMIM:224100
Autosomal Dominant Severe Congenital Neutropenia	Aplastic anemia, Lymphopenia, Myelodysplasia, Eosinophilia, Acute myeloid leukemia, Hemangioma, N...	ORPHA:486
B-Cell Expansion With Nfkb And T-Cell Anergy	Increased B cell count, Splenomegaly, Lymphoid hyperplasia	OMIM:616452
Fetal Gaucher Disease	Abnormality of the spleen, Pancytopenia, Splenomegaly, Thrombocytopenia, Hepatomegaly	ORPHA:85212
Mu-Heavy Chain Disease	Abnormal bone marrow cell morphology, Abnormal B cell count, Splenomegaly, Hepatomegaly, Lymphade...	ORPHA:100024
Autoinflammation With Episodic Fever And Lymphadenopathy	Recurrent tonsillitis, Microcytic anemia, Splenomegaly, Lymphadenopathy, Hepatomegaly	OMIM:618852
Imerslund-Gräsbeck Syndrome	Anisopoikilocytosis, Hypersegmentation of neutrophil nuclei, Pancytopenia, Reticulocytosis, Macro...	ORPHA:35858
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase	Recurrent pancreatitis, Splenomegaly	OMIM:118830
Sea-Blue Histiocyte Disease	Cirrhosis, Splenomegaly, Thrombocytopenia, Sea-blue histiocytosis	OMIM:269600
Cutaneous Neuroendocrine Carcinoma	Neoplasm of the outer ear, Squamous cell carcinoma of the skin, Chronic noninfectious lymphadenop...	ORPHA:79140
Hemophagocytic Lymphohistiocytosis, Familial, 4	Hemophagocytosis, Splenomegaly, Hepatomegaly, Lymphadenopathy, Thrombocytopenia, Neutropenia, Ane...	OMIM:603552
Storage Pool Platelet Disease	Decreased mean platelet volume, Acute leukemia, Myelodysplasia	OMIM:185050
Alpha-Heavy Chain Disease	Lymphoma, Ascites, Splenomegaly, Hepatomegaly, Lymphadenopathy, Anemia	ORPHA:100025
Immunodeficiency 76	Lymphopenia, Splenomegaly, B-cell lymphoma, Lymphadenopathy, B lymphocytopenia, T lymphocytopenia	OMIM:619164
Lig4 Syndrome	Acute leukemia, Abnormal bone marrow cell morphology, Lymphoma, Pancytopenia, Leukocytosis, Lymph...	ORPHA:99812
Nodular Lymphocyte Predominant Hodgkin Lymphoma	Abnormal bone marrow cell morphology, Lymphoma, Splenomegaly, B-cell lymphoma, Lymphadenopathy, H...	ORPHA:86893
Dyskeratosis Congenita, Autosomal Recessive 3	Bone marrow hypocellularity, Pancytopenia, Squamous cell carcinoma of the tongue	OMIM:613988
Delta-Beta-Thalassemia	Anemia, Microcytic anemia, Abnormal hemoglobin	ORPHA:231237
Polycythemia Vera	Increased hematocrit, Leukocytosis, Splenomegaly, Increased red blood cell mass, Increased circul...	OMIM:263300
Dyskeratosis Congenita, Autosomal Dominant 6	Bone marrow hypocellularity, Pancytopenia, Aplastic anemia	OMIM:616553
Primary Erythromelalgia	Leukemia	ORPHA:90026
Hydrops, Lactic Acidosis, And Sideroblastic Anemia	Increased mean corpuscular volume, Extramedullary hematopoiesis, Ascites, Sideroblastic anemia, E...	OMIM:617021
Gray Platelet Syndrome	Myelodysplasia, Splenomegaly, Thrombocytopenia	ORPHA:721
Thrombocytopenia, Anemia, And Myelofibrosis	Splenomegaly, Thrombocytopenia, Anisopoikilocytosis, Anemia, Myelofibrosis	OMIM:617441
Transcobalamin Ii Deficiency	Pancytopenia, Megaloblastic bone marrow, Macrocytic anemia, Erythroid hypoplasia, Hepatomegaly, R...	OMIM:275350
Wiskott-Aldrich Syndrome	Abnormal eosinophil morphology, Acute leukemia, Lymphoma, Microcytic anemia, Lymphopenia, Neoplas...	ORPHA:906
Immunodeficiency 52	Increased proportion of gamma-delta T cells, Lymphopenia, Abnormal B cell count, Decreased propor...	OMIM:617514
Autism, Susceptibility To, X-Linked 2	Restrictive behavior, Motor stereotypy, Inflexible adherence to routines	OMIM:300495
Congenital Amegakaryocytic Thrombocytopenia	Anemia, Abnormal hemoglobin, Thrombocytopenia	ORPHA:3319
Dyskeratosis Congenita, Autosomal Recessive 2	Bone marrow hypocellularity, Pancytopenia, Cirrhosis, Thrombocytopenia	OMIM:613987
Maternal Uniparental Disomy Of Chromosome 1	Hepatomegaly, Pancytopenia	ORPHA:251009
Bangstad Syndrome	Pancytopenia	OMIM:210740
Acute Promyelocytic Leukemia	Pancytopenia, Leukopenia, Leukocytosis, Bone marrow hypercellularity, Lymphadenopathy, Neutropeni...	ORPHA:520
Intellectual Developmental Disorder, Autosomal Recessive 58	Self-injurious behavior, Aggressive behavior, Pica, Motor stereotypy	OMIM:617270
Thrombocytopenia With Congenital Dyserythropoietic Anemia	Hypochromic anemia, Anemia of inadequate production, Anisocytosis, Abnormality of multiple cell l...	ORPHA:67044
Ghosal Hematodiaphyseal Dysplasia	Anemia, Splenomegaly	ORPHA:1802
Transaldolase Deficiency	Hepatic fibrosis, Micronodular cirrhosis, Hepatosplenomegaly, Pancytopenia, Splenomegaly, Hepatom...	OMIM:606003
Niemann-Pick Disease, Type B	Sea-blue histiocytosis, Splenomegaly, Hepatomegaly, Thrombocytopenia, Anemia, Bone-marrow foam cells	OMIM:607616
Immunodeficiency 104	Hepatomegaly, T lymphocytopenia, Splenomegaly, Lymphadenopathy	OMIM:608971
Overhydrated Hereditary Stomatocytosis	Abnormal mean corpuscular volume, Stomatocytosis, Hemolytic anemia, Splenomegaly, Reticulocytosis...	ORPHA:3203
Dehydrated Hereditary Stomatocytosis 2	Increased mean corpuscular volume, Increased mean corpuscular hemoglobin concentration, Thrombocy...	OMIM:616689
Fanconi Anemia, Complementation Group D1	Acute myeloid leukemia, Bone marrow hypocellularity, T-cell acute lymphoblastic leukemias	OMIM:605724
Cryohydrocytosis	Stomatocytosis, Hemolytic anemia, Splenomegaly, Reticulocytosis	OMIM:185020
Anemia, Sideroblastic, 3, Pyridoxine-Refractory	Hepatosplenomegaly, Erythroid hyperplasia, Splenomegaly, Anisocytosis, Hepatomegaly, Cirrhosis, H...	OMIM:616860
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia	Lymphoma, Decreased CD4:CD8 ratio, Decreased proportion of CD4-positive helper T cells, Splenomeg...	OMIM:300853
Immunodeficiency 78 With Autoimmunity And Developmental Delay	Fluctuating splenomegaly, Facial papilloma, Autoimmune hemolytic anemia, Lymphadenopathy, Neutrop...	OMIM:619220
Proteasome-Associated Autoinflammatory Syndrome 5	Hepatomegaly, Splenomegaly	OMIM:619175
Diamond-Blackfan Anemia 16	Anemia	OMIM:617408
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency	Normocytic anemia, Cholelithiasis, Splenomegaly, Reticulocytosis, Cholecystitis, Nonspherocytic h...	OMIM:235700
Thrombocytopenia With Beta-Thalassemia, X-Linked	Increased RBC distribution width, Reduced platelet alpha granules, Reticulocytosis, Splenomegaly,...	OMIM:314050
Acetophenetidin Sensitivity	Methemoglobinemia, Hemolytic anemia	OMIM:200300
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome	Decreased proportion of memory B cells, Absence of lymph node germinal center, Ascites, Hepatospl...	ORPHA:79124
Gaucher Disease Type 1	Splenic infarction, Cholelithiasis, Ascites, Hepatosplenomegaly, Pancytopenia, Hypersplenism, Leu...	ORPHA:77259
Hereditary Folate Malabsorption	Eosinophilia, Pancytopenia, Megaloblastic anemia, Thrombocytopenia	ORPHA:90045
Diamond-Blackfan Anemia 9	Anemia	OMIM:613308
Juvenile Temporal Arteritis	Eosinophilia, Leukocytosis	ORPHA:26137
Propionic Acidemia	Pancytopenia, Hepatomegaly, Pancreatitis, Thrombocytopenia, Neutropenia, Anemia	OMIM:606054
Schnitzler Syndrome	Lymphoma, Leukocytosis, Splenomegaly, Hepatomegaly, Lymphadenopathy, Anemia	ORPHA:37748
Hemophagocytic Syndrome Associated With An Infection	Hemophagocytosis, Pancytopenia, Abnormal T cell subset distribution, Splenomegaly, Hepatomegaly, ...	ORPHA:158048
Mast Cell Sarcoma	Mastocytosis, Splenomegaly, Lymphadenopathy, Hepatomegaly, Sarcoma, Mediastinal lymphadenopathy	ORPHA:66661
Dominant Beta-Thalassemia	Hepatic fibrosis, Reduced hemoglobin A, Extramedullary hematopoiesis, Persistence of hemoglobin F...	ORPHA:231226
Shwachman-Diamond Syndrome 1	Persistence of hemoglobin F, Exocrine pancreatic insufficiency, Pancytopenia, Hepatomegaly, Acute...	OMIM:260400
Neurofibromatosis Type 1	Chronic myelogenous leukemia, Neoplasm of the skin, Meningioma, Rhabdomyosarcoma, Pheochromocytom...	ORPHA:636
Beta-Thalassemia Major	Hepatic fibrosis, Reduced hemoglobin A, Extramedullary hematopoiesis, Persistence of hemoglobin F...	ORPHA:231214
Hemophagocytic Lymphohistiocytosis, Familial, 2	Hemophagocytosis, Leukopenia, Hepatosplenomegaly, Pancytopenia, Splenomegaly, Hepatomegaly, Lymph...	OMIM:603553
Immunodeficiency, Common Variable, 8, With Autoimmunity	Lymphoma, Pancytopenia, Splenomegaly, Autoimmune hemolytic anemia, Generalized lymphadenopathy, D...	OMIM:614700
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant	Splenomegaly, Decreased proportion of class-switched memory B cells, Increased proportion of tran...	OMIM:615513
Osteopetrosis, Autosomal Recessive 3	Anemia, Hepatosplenomegaly, Extramedullary hematopoiesis	OMIM:259730
Encephalopathy Due To Prosaposin Deficiency	Hepatomegaly, Splenomegaly	ORPHA:139406
Immunodeficiency 48	Abnormal B cell count, Splenomegaly, Impaired lymphocyte transformation with phytohemagglutinin, ...	OMIM:269840
Erythrocytosis, Familial, 7	Increased circulating hemoglobin concentration, Increased hematocrit, Polycythemia	OMIM:617981
Erythrocytosis, Familial, 6	Increased circulating hemoglobin concentration, Increased hematocrit, Polycythemia	OMIM:617980
Methylcobalamin Deficiency Type Cble	Increased mean corpuscular volume, Megaloblastic bone marrow, Pancytopenia, Abnormality of the li...	ORPHA:2169
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease	Hemophagocytosis, Hepatosplenomegaly, Splenomegaly, Lymphadenopathy, Thrombocytopenia, Anemia	OMIM:613101
Acute Promyelocytic Leukemia	Acute promyelocytic leukemia	OMIM:612376
Felty Syndrome	Splenomegaly, Neutropenia	OMIM:134750
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome	Anemia, Pancytopenia, Leukopenia, Thrombocytopenia	OMIM:613845
Juvenile Arthritis	Leukocytosis, Thrombocytosis	OMIM:618795
Erythrocytosis, Familial, 3	Increased circulating hemoglobin concentration, Increased hematocrit, Increased red blood cell mass	OMIM:609820
Glut1 Deficiency Syndrome 2	Splenomegaly, Hemolytic anemia, Reticulocytosis	OMIM:612126
Gaucher Disease, Atypical, Due To Saposin C Deficiency	Hypersplenism, Splenomegaly, Hepatomegaly, Thrombocytopenia, Anemia	OMIM:610539
Fetal Parvovirus Syndrome	Anemia, Ascites, Thrombocytopenia	ORPHA:295
Anemia, Hypochromic Microcytic, With Iron Overload 2	Sideroblastic anemia, Splenomegaly, Hepatomegaly, Hypochromia, Poikilocytosis, Anemia, Elevated h...	OMIM:615234
Immunodeficiency By Defective Expression Of Mhc Class Ii	Abnormal CD4:CD8 ratio, Pancytopenia, Decreased proportion of CD4-positive helper T cells, Autoim...	ORPHA:572
Osteopetrosis, Autosomal Recessive 5	Extramedullary hematopoiesis, Ascites, Hepatosplenomegaly, Pancytopenia, Leukocytosis, Splenomega...	OMIM:259720
Immunodeficiency 27A	Hepatosplenomegaly, Leukocytosis, Splenomegaly, Lymphadenopathy, Thrombocytosis, Anemia, Enlarged...	OMIM:209950
Spherocytosis, Type 4	Splenomegaly, Reticulocytosis, Spherocytosis, Jaundice, Hemolytic anemia	OMIM:612653
Osteopetrosis, Autosomal Recessive 1	Pancytopenia, Splenomegaly, Hepatomegaly, Thrombocytopenia, Anemia	OMIM:259700
Dyskeratosis Congenita, Autosomal Dominant 2	Bone marrow hypocellularity, Hepatic fibrosis, Aplastic anemia, Pancytopenia, Leukopenia, Thrombo...	OMIM:613989
Bleeding Disorder, Platelet-Type, 19	Anemia, Macrothrombocytopenia, Thrombocytopenia	OMIM:616176
X-Linked Sideroblastic Anemia	Anemia, Splenomegaly	ORPHA:75563
Erythrocytosis, Familial, 5	Increased circulating hemoglobin concentration, Increased hematocrit, Polycythemia	OMIM:617907
Immunodeficiency 32B	Impaired oxidative burst, Splenomegaly, Granulocytic hyperplasia, Hepatomegaly, Eosinophilia, Mon...	OMIM:226990
Thymoma	Aplastic anemia, Imbalanced hemoglobin synthesis, Neoplasm of head and neck, Neoplasm of the thyr...	ORPHA:99867
Glycosylphosphatidylinositol Biosynthesis Defect 1	Abnormal bone marrow cell morphology, Portal hypertension, Splenomegaly, Portal vein thrombosis, ...	OMIM:610293
Spherocytosis, Type 2	Acanthocytosis, Splenomegaly, Reticulocytosis, Spherocytosis, Jaundice, Hemolytic anemia	OMIM:616649
Anemia, Hypochromic Microcytic, With Iron Overload 1	Erythroid hyperplasia, Elevated hepatic iron concentration, Hypochromia, Anemia, Decreased mean c...	OMIM:206100
Gamma-Glutamylcysteine Synthetase Deficiency, Hemolytic Anemia Due To	Reduced erythrocyte gamma-glutamyl cysteine synthetase activity, Hemolytic anemia, Reticulocytosis	OMIM:230450
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin	Poikilocytosis, Oval macrocytosis, Anemia of inadequate production, Anisocytosis	OMIM:603529
Aicardi-Goutieres Syndrome 6	Hepatomegaly, Hemolytic anemia, Splenomegaly, Thrombocytopenia	OMIM:615010
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency	Splenomegaly, Hodgkin lymphoma, Decreased proportion of class-switched memory B cells, Coombs-pos...	OMIM:619375
Mismatch Repair Cancer Syndrome 1	Adenocarcinoma of the colon, T-cell lymphoma, Leukemia, Lymphoma, Oligodendroglioma, Ependymoma, ...	OMIM:276300
Glutamate-Cysteine Ligase Deficiency	Jaundice, Hepatosplenomegaly, Hemolytic anemia, Reticulocytosis	ORPHA:33574
Hydrops Fetalis, Nonimmune	Anemia	OMIM:236750
Combined Immunodeficiency Due To Partial Rag1 Deficiency	Splenomegaly, Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil antibodies, ...	ORPHA:231154
Osteopetrosis, Autosomal Recessive 8	Anemia, Hepatomegaly, Splenomegaly, Thrombocytopenia	OMIM:615085
Tumor Predisposition Syndrome 2	Meningioma, Juvenile type ovarian granulosa cell tumor, Schwannoma, Ductal carcinoma in situ, Uve...	OMIM:619975
6-Phosphogluconolactonase Deficiency	Hemolytic anemia	OMIM:172150
Autoimmune Lymphoproliferative Syndrome	Chronic noninfectious lymphadenopathy, Autoimmune hemolytic anemia, Splenomegaly, Follicular hype...	OMIM:601859
Thrombocythemia 1	Splenomegaly, Thrombocytosis	OMIM:187950
Hemochromatosis, Type 2B	Hepatic fibrosis, Splenomegaly, Hepatomegaly, Cirrhosis, Anemia	OMIM:613313
Lig4 Syndrome	Pancytopenia, Acute lymphoblastic leukemia, Thrombocytopenia, Myelodysplasia	OMIM:606593
Methylmalonic Aciduria, Cblb Type	Pancytopenia, Hepatomegaly, Thrombocytopenia, Neutropenia, Anemia	OMIM:251110
Dyskeratosis Congenita, Autosomal Recessive 8	Bone marrow hypocellularity, Reduced natural killer cell count, Pancytopenia, B lymphocytopenia	OMIM:620133
Classic Mycosis Fungoides	Neoplasm of the skin, Abnormal bone marrow cell morphology, Lymphoma, Abnormal lymphocyte morphol...	ORPHA:2584
Diffuse Cutaneous Mastocytosis	Abnormal bone marrow cell morphology, Abnormality of the spleen, Abnormality of the liver, Lympho...	ORPHA:79456
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2	Hepatosplenomegaly, Congenital thrombocytopenia, Neutropenia, Thrombocytopenia, Anemia	OMIM:616738
Hemolytic Disease Of Fetus And Newborn, Rh-Induced	Hepatomegaly, Fetal ascites, Splenomegaly	OMIM:619462
Tyrosinemia Type 1	Hepatomegaly, Splenomegaly, Hepatocellular carcinoma	ORPHA:882
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome	Leukemia, Nephroblastoma, Meningioma	OMIM:602501
Spherocytosis, Type 1	Cholelithiasis, Splenomegaly, Reticulocytosis, Spherocytosis, Jaundice, Hemolytic anemia	OMIM:182900
Ocular Motor Apraxia	Jerky head movements	OMIM:257550
Shwachman-Diamond Syndrome	Normocytic anemia, Bone marrow hypocellularity, Aplastic anemia, Increased mean corpuscular volum...	ORPHA:811
Congenital Bile Acid Synthesis Defect Type 2	Giant cell hepatitis, Extramedullary hematopoiesis, Cholestasis, Hepatic steatosis, Prolonged neo...	ORPHA:79303
Dyskeratosis Congenita, Autosomal Dominant 3	Bone marrow hypocellularity, Aplastic anemia, Pancytopenia, Leukopenia, Macrocytic anemia, Neutro...	OMIM:613990
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency	Leukocytosis, Reticulocytosis, Splenomegaly, Anisocytosis, Heinz bodies, Fava bean-induced hemoly...	OMIM:300908
Anemia, Congenital Dyserythropoietic, Type Ia	Macrocytic dyserythropoietic anemia, Erythroid hyperplasia, Reticulocytosis, Anemia of inadequate...	OMIM:224120
Fanconi Anemia, Complementation Group E	Pancytopenia, Anemia, Reticulocytopenia, Neutropenia, Thrombocytopenia, Leukemia	OMIM:600901
Fanconi Anemia, Complementation Group P	Anemia, Pancytopenia, Squamous cell carcinoma	OMIM:613951
Dyskeratosis Congenita, Autosomal Dominant 1	Bone marrow hypocellularity, Increased mean corpuscular volume, Aplastic anemia, Lymphopenia, Leu...	OMIM:127550
Cernunnos-Xlf Deficiency	Lymphopenia, Thrombocytopenia, B lymphocytopenia, Anemia, T lymphocytopenia	ORPHA:169079
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome	Abnormal CD4:CD8 ratio, Splenomegaly, Abscess, Lymphadenopathy, Neutropenia, B lymphocytopenia, I...	OMIM:150550
Alpha-Mannosidosis, Adult Form	Hepatosplenomegaly, Pancytopenia	ORPHA:309288
Bleeding Disorder, Platelet-Type, 16	Platelet anisocytosis, Giant platelets, Thrombocytopenia, Anemia, Macrothrombocytopenia	OMIM:187800
Bone Marrow Failure Syndrome 3	Bone marrow hypocellularity, Aplastic anemia, Increased mean corpuscular volume, Persistence of h...	OMIM:617052
Indolent Systemic Mastocytosis	Mastocytosis, Abnormal bone marrow cell morphology, Increased proportion of CD25+ mast cells, Spl...	ORPHA:98848
Immunodeficiency 64 With Lymphoproliferation	Increased proportion autoreactive unresponsive CD21-/low B cells, Abnormal CD4:CD8 ratio, Cervica...	OMIM:618534
Bone Marrow Failure Syndrome 6	Bone marrow hypocellularity, Increased mean corpuscular volume, Persistence of hemoglobin F, Lymp...	OMIM:618849
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 1	Megakaryocytopenia, Aplastic anemia, Congenital thrombocytopenia, Amegakaryocytic thrombocytopenia	OMIM:605432
Erythrocytosis, Familial, 4	Increased circulating hemoglobin concentration, Increased hematocrit, Polycythemia	OMIM:611783
Methylmalonic Aciduria, Cbla Type	Pancytopenia, Hepatomegaly, Thrombocytopenia, Neutropenia, Anemia	OMIM:251100
Simple Cryoglobulinemia	Monoclonal immunoglobulin M proteinemia, Chronic lymphatic leukemia, B-cell lymphoma, Multiple my...	ORPHA:91139
Congenital Disorder Of Glycosylation, Type Iil	Cholestasis, Pancytopenia, Splenomegaly, Cirrhosis, Thrombocytopenia, Hepatomegaly	OMIM:614576
Thrombocytopenia 2	Increased megakaryocyte colony forming unit count, Abnormal platelet volume, Leukocytosis, Abnorm...	OMIM:188000
Pyruvate Kinase Deficiency Of Red Cells	Cholelithiasis, Reduced red cell pyruvate kinase level, Erythroid hyperplasia, Reticulocytosis, S...	OMIM:266200
Gaucher Disease, Type Iiic	Cardiomegaly, Hepatomegaly, Pancytopenia, Splenomegaly	OMIM:231005
Tafro Syndrome	Ascites, Hepatosplenomegaly, Leukocytosis, Splenomegaly, Hepatomegaly, Increased megakaryocyte co...	ORPHA:457077
Dehydrated Hereditary Stomatocytosis	Cholelithiasis, Increased mean corpuscular volume, Polycythemia, Increased mean corpuscular hemog...	ORPHA:3202
Immunodeficiency 7	Hypereosinophilia, Splenomegaly, Autoimmune hemolytic anemia, Lymphadenopathy, Neutropenia, Hepat...	OMIM:615387
Fanconi Anemia, Complementation Group A	Pancytopenia, Anemia, Reticulocytopenia, Neutropenia, Thrombocytopenia, Leukemia	OMIM:227650
Bone Marrow Failure Syndrome 4	Anemia, Bone marrow hypocellularity, Leukopenia, Thrombocytopenia	OMIM:618116
Gamma-Heavy Chain Disease	Abnormal bone marrow cell morphology, Abnormal lymphocyte morphology, Splenomegaly, Autoimmune he...	ORPHA:100026
Immunodeficiency 98 With Autoinflammation, X-Linked	Bone marrow hypocellularity, Hemophagocytosis, Agranulocytosis, Autoimmune hemolytic anemia, Sple...	OMIM:301078
Asplenia, Isolated Congenital	Howell-Jolly bodies, Asplenia, Thrombocytosis	OMIM:271400
Immunodeficiency 46	Anemia, Neutropenia, Intermittent thrombocytopenia	OMIM:616740
Anemia, Congenital Dyserythropoietic, Type Iv	Increased RBC distribution width, Persistence of hemoglobin F, Hepatosplenomegaly, Reduced hemato...	OMIM:613673
Pontocerebellar Hypoplasia, Type 15	Anemia, Chronic neutropenia, Thrombocytopenia	OMIM:619302
Anemia, Sideroblastic, 1	Sideroblastic anemia, Hypochromic microcytic anemia, Anemia of inadequate production, Macrocytic ...	OMIM:300751
Methylmalonic Aciduria And Homocystinuria, Cblf Type	Pancytopenia, Hepatomegaly, Megaloblastic anemia, Thrombocytopenia, Neutropenia, Anemia	OMIM:277380
Combined Saposin Deficiency	Hepatomegaly, Splenomegaly	OMIM:611721
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome	Bone marrow hypocellularity, Lymphopenia, Pancytopenia, Hepatosplenomegaly, Leukopenia, Leukocyto...	OMIM:615688
Elliptocytosis 1	Jaundice, Hemolytic anemia, Splenomegaly, Elliptocytosis	OMIM:611804
Stormorken-Sjaastad-Langslet Syndrome	Anemia, Asplenia	ORPHA:3204
Harderoporphyria	Splenomegaly, Reticulocytosis, Hepatomegaly, Prolonged neonatal jaundice, Hemolytic anemia	OMIM:618892
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency	Spontaneous hemolytic crises, Cholelithiasis, Pigment gallstones, Splenomegaly, Cholecystitis, No...	OMIM:613470
Syndromic Multisystem Autoimmune Disease Due To Itch Deficiency	Hepatitis, Hepatosplenomegaly, Pancytopenia, Hypersplenism, Portal hypertension, Cirrhosis, Neutr...	ORPHA:228426
Erythrocytosis, Familial, 1	Increased circulating hemoglobin concentration, Increased hematocrit, Splenomegaly, Increased red...	OMIM:133100
Osteopetrosis, Autosomal Dominant 3	Anemia, Hepatomegaly, Splenomegaly	OMIM:618107
Alpha-Thalassemia Myelodysplasia Syndrome	Reduced alpha/beta synthesis ratio, Myelodysplasia, HbH hemoglobin, Hypochromic microcytic anemia	OMIM:300448
Polycythemia Vera	Acute leukemia, Polycythemia, Leukocytosis, Splenomegaly, Portal hypertension, Portal vein thromb...	ORPHA:729
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia	Leukocytosis, Splenomegaly	OMIM:618042
Neonatal Severe Primary Hyperparathyroidism	Hepatomegaly, Splenomegaly	ORPHA:417
Familial Cold Autoinflammatory Syndrome 2	Leukocytosis, Splenomegaly, Lymphadenopathy	OMIM:611762
Diamond-Blackfan Anemia 20	Erythroid hypoplasia, Anemia	OMIM:618313
Rosaï-Dorfman Disease	Anemia, Lymphadenopathy	ORPHA:158014
Beta-Thalassemia	Cholelithiasis, Hepatitis, Microcytic anemia, Splenomegaly, Abnormal hemoglobin, Hepatomegaly, Th...	ORPHA:848
Malaria	Anemia, Thrombocytopenia	ORPHA:673
Fanconi Anemia, Complementation Group C	Bone marrow hypocellularity, Pancytopenia, Anemia, Reticulocytopenia, Neutropenia, Thrombocytopen...	OMIM:227645
Autoimmune Disease, Multisystem, With Facial Dysmorphism	Hepatitis, Pancytopenia, Hypersplenism, Portal hypertension, Splenomegaly, Hepatomegaly	OMIM:613385
Short Fifth Metacarpals-Insulin Resistance Syndrome	Spherocytosis, Splenomegaly	ORPHA:66518
Hypertriglyceridemia, Transient Infantile	Hepatomegaly, Hepatic fibrosis, Hepatic steatosis, Splenomegaly	OMIM:614480
Galactose Epimerase Deficiency	Hepatomegaly, Jaundice, Splenomegaly	ORPHA:79238
Portal Hypertension, Noncirrhotic, 1	Hepatomegaly, Portal hypertension, Splenomegaly	OMIM:617068
Dyskeratosis Congenita, Autosomal Recessive 1	Hepatic fibrosis, Bone marrow hypocellularity, Aplastic anemia, Pancytopenia, Thrombocytopenia	OMIM:224230
Reticular Dysgenesis	Anemia, Leukopenia, Abnormality of neutrophils, Aplasia/Hypoplasia of the thymus	ORPHA:33355
Osteopetrosis, Autosomal Recessive 4	Splenomegaly, Reticulocytosis, Hepatomegaly, Thrombocytopenia, Anemia	OMIM:611490
Hb Bart'S Hydrops Fetalis	Anemia, Hepatomegaly, Splenomegaly, Abnormal hemoglobin	ORPHA:163596
Cinca Syndrome	Hepatosplenomegaly, Leukocytosis, Eosinophilia, Lymphadenopathy, Anemia	OMIM:607115
Fanconi Anemia, Complementation Group V	Anemia, Bone marrow hypocellularity, Thrombocytopenia, Neutropenia	OMIM:617243
Overhydrated Hereditary Stomatocytosis	Stomatocytosis, Increased mean corpuscular volume, Splenomegaly, Reticulocytosis, Hepatomegaly, P...	OMIM:185000
Chilblain Lupus	Chronic myelomonocytic leukemia	ORPHA:90280
Wolman Disease	Hepatomegaly, Splenomegaly	OMIM:620151
Bile Acid Synthesis Defect, Congenital, 5	Hepatic fibrosis, Portal fibrosis, Portal hypertension, Splenomegaly, Iron deficiency anemia, Hep...	OMIM:616278
Pearson Marrow-Pancreas Syndrome	Exocrine pancreatic insufficiency, Sideroblastic anemia, Pancytopenia, Hepatomegaly, Refractory s...	OMIM:557000
Ollier Disease	Multiple enchondromatosis, Neoplasm, Hemangioma, Anemia, Sarcoma, Lymphangioma, Visceral angiomat...	ORPHA:296
Sandhoff Disease	Hepatomegaly, Splenomegaly	ORPHA:796
Oslam Syndrome	Anemia, Neoplasm, Osteosarcoma	OMIM:165660
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity	Decreased CD4:CD8 ratio, Splenomegaly, Autoimmune hemolytic anemia, Lymphadenopathy, Hepatomegaly	OMIM:618495
Spondyloepimetaphyseal Dysplasia, Isidor-Toutain Type	Anemia	OMIM:618728
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema	Cholelithiasis, Increased mean corpuscular hemoglobin concentration, Hepatitis, Splenomegaly, Inc...	OMIM:194380
Sea-Blue Histiocytosis	Sea-blue histiocytosis, Splenomegaly, Thrombocytopenia, Hepatomegaly, Mediastinal lymphadenopathy	ORPHA:158029
Immunodeficiency 42	Hepatomegaly, Hypoplasia of the thymus, Splenomegaly	OMIM:616622
Ghosal Hematodiaphyseal Dysplasia	Bone marrow hypocellularity, Leukopenia, Thrombocytopenia, Myelofibrosis, Refractory anemia	OMIM:231095
Autoimmune Lymphoproliferative Syndrome, Type Iii	Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of memory ...	OMIM:615559
Schimke Immunoosseous Dysplasia	Lymphopenia, Pancytopenia, Abnormal T cell morphology, Thrombocytopenia, Neutropenia, Anemia	OMIM:242900
Babesiosis	Leukopenia, Splenomegaly, Thrombocytopenia, Hepatomegaly, Jaundice, Hemolytic anemia	ORPHA:108
Autoinflammation With Pulmonary And Cutaneous Vasculitis	Anemia, Hepatomegaly, Splenomegaly	OMIM:620296
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities	Abnormal reticulocyte morphology, Bone marrow hypocellularity, Elliptocytosis, Macrocytic anemia,...	OMIM:300835
Galactosemia Iii	Hepatomegaly, Jaundice, Splenomegaly	OMIM:230350
Lethal Hemolytic Anemia-Genital Anomalies Syndrome	Anemia, Splenomegaly, Ascites	ORPHA:1046
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-	Splenomegaly, Hepatomegaly, Pancreatitis, Thrombocytopenia, Neutropenia, Anemia	ORPHA:79312
Majeed Syndrome	Microcytic anemia, Hepatosplenomegaly, Erythroid hyperplasia, Anemia of inadequate production, De...	OMIM:609628
Autoimmune Lymphoproliferative Syndrome, Type Iia	Chronic noninfectious lymphadenopathy, Autoimmune hemolytic anemia, Splenomegaly, Follicular hype...	OMIM:603909
Progressive Familial Intrahepatic Cholestasis	Cholestasis, Neoplasm, Splenomegaly, Hepatomegaly, Jaundice	ORPHA:172
Follicular Lymphoma	Lymphoma, Splenomegaly, Lymphadenopathy, Abnormal peritoneum morphology, Mediastinal lymphadenopathy	ORPHA:545
Coenzyme Q10 Deficiency, Primary, 1	Anemia, Pancytopenia	OMIM:607426
Chédiak-Higashi Syndrome	Abnormality of neutrophil physiology, Hemophagocytosis, Abnormal natural killer cell morphology, ...	ORPHA:167
Syndromic Recessive X-Linked Ichthyosis	Acute leukemia, Testicular seminoma	ORPHA:281090
Hatipoglu Immunodeficiency Syndrome	Anemia, Pancytopenia	OMIM:620331
Immunodeficiency 115 With Autoinflammation	Verrucae, Intestinal lymphangiectasia, Splenomegaly, Decreased proportion of memory T cells, Anem...	OMIM:620632
Diffuse Neonatal Hemangiomatosis	Ascites, Hepatomegaly, Thrombocytopenia, Anemia, Hemangiomatosis, Visceral angiomatosis	ORPHA:2123
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis	Abnormally low T cell receptor excision circle level, Reduction of neutrophil motility, Rectal ab...	OMIM:608203
Sickle Cell Disease	Splenic infarction, Cholelithiasis, Increased red cell sickling tendency, Leukocytosis, Splenomeg...	OMIM:603903
Diamond-Blackfan Anemia 4	Erythroid hypoplasia, Reticulocytopenia, Neutropenia, Macrocytic anemia	OMIM:612527
Waldenström Macroglobulinemia	Normocytic anemia, Monoclonal immunoglobulin M proteinemia, Lymphoma, Splenomegaly, Hepatomegaly,...	ORPHA:33226
Immunodeficiency, Common Variable, 1	Abnormal T cell count, Splenomegaly, Decreased proportion of class-switched memory B cells, Lymph...	OMIM:607594
Immunodeficiency 114, Folate-Responsive	Lymphopenia, Megaloblastic bone marrow, Splenomegaly, Megaloblastic anemia, Thrombocytopenia, Hep...	OMIM:620603
Livedoid Vasculopathy	Anemia, Pancytopenia, Leukocytosis, Polycythemia	ORPHA:542643
Formiminoglutamic Aciduria	Anemia, Megaloblastic anemia	ORPHA:51208
Splenoportal Vascular Anomalies	Hepatic fibrosis, Ascites, Splenomegaly, Cirrhosis, Anomalous splenoportal venous system	OMIM:271500
Cold Agglutinin Disease	Hepatomegaly, Hemolytic anemia, Splenomegaly, Lymphadenopathy	ORPHA:56425
Cholestasis, Progressive Familial Intrahepatic, 12	Cholestasis, Hepatomegaly, Jaundice, Splenomegaly	OMIM:620010
Nasu-Hakola Disease	Acute leukemia	ORPHA:2770
Transaldolase Deficiency	Anemia, Hepatosplenomegaly, Cirrhosis, Thrombocytopenia	ORPHA:101028
Guanidinoacetate Methyltransferase Deficiency	Self-injurious behavior, Aggressive behavior, Abnormal head movements, Hyperactivity	ORPHA:382
Primary Dystonia, Dyt13 Type	Motor stereotypy, Jerky head movements	ORPHA:98807
Aicardi-Goutières Syndrome	Neonatal alloimmune thrombocytopenia, Hepatosplenomegaly, Chronic lymphatic leukemia, Cardiomegal...	ORPHA:51
Immunodeficiency 102	Nodular regenerative hyperplasia of liver, Reduced natural killer cell count, Increased proportio...	OMIM:301082
Vitamin B12-Responsive Methylmalonic Acidemia	Anemia, Hepatomegaly	ORPHA:28
Diaph1-Related Sensorineural Hearing Loss-Thrombocytopenia Syndrome	Thrombocytopenia, Iron deficiency anemia, Neutropenia, Increased mean platelet volume	ORPHA:494444
Fgfr2-Related Bent Bone Dysplasia	Hepatosplenomegaly, Extramedullary hematopoiesis	ORPHA:313855
Wolman Disease	Ascites, Splenomegaly, Hepatomegaly, Anemia, Bone-marrow foam cells	ORPHA:75233
Tufted Angioma	Neoplasm of the skin, Hemangioma of the lip, Facial hemangioma, Thrombocytopenia, Anemia, Megakar...	ORPHA:1063
Desmoplastic Small Round Cell Tumor	Ascites, Hepatomegaly, Lymphadenopathy, Abnormal peritoneum morphology, Testicular neoplasm, Anem...	ORPHA:83469
Anemia, Congenital Dyserythropoietic, Type Iiib, Autosomal Recessive	Macrocytic dyserythropoietic anemia, Macrocytic anemia	OMIM:619789
Immunodeficiency 97 With Autoinflammation	Decreased proportion of CD4+CD25+ regulatory T cells, Reduced natural killer cell count, Mediasti...	OMIM:619802
Immunodeficiency, Common Variable, 2	Abnormal T cell count, Lymphoma, Neoplasm, Splenomegaly, Follicular hyperplasia, Lymphadenopathy,...	OMIM:240500
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis	Exocrine pancreatic insufficiency, Splenomegaly, Anemia of inadequate production, Hepatomegaly, J...	OMIM:612714
Omenn Syndrome	Lymphoma, Abnormal lymphocyte morphology, Leukocytosis, Splenomegaly, Hepatomegaly, Eosinophilia,...	ORPHA:39041
Congenital Syphilis	Extramedullary hematopoiesis, Hepatosplenomegaly, Prolonged neonatal jaundice, Pancreatitis, Lymp...	ORPHA:499009
Congenital Toxoplasmosis	Ascites, Cardiomegaly, Hepatomegaly, Lymphadenopathy, Thrombocytopenia, Anemia, Jaundice	ORPHA:858
Glycogen Storage Disease Due To Muscle Phosphofructokinase Deficiency	Anemia	ORPHA:371
Diamond-Blackfan Anemia 12	Reticulocytopenia, Normochromic anemia, Macrocytic anemia, Elevated red cell adenosine deaminase ...	OMIM:615550
Deafness-Intellectual Disability Syndrome, Martin-Probst Type	Pancytopenia	ORPHA:85321
Benign Paroxysmal Torticollis Of Infancy	Abnormal head movements	ORPHA:71518
Thrombophilia Due To Protein S Deficiency, Autosomal Recessive	Anemia	OMIM:614514
Immunodeficiency 14B, Autosomal Recessive	Neutrophilia, Thrombocytosis, Leukocytosis, B lymphocytopenia, Monocytosis	OMIM:619281
Platelet Disorder, Familial, With Associated Myeloid Malignancy	Acute monocytic leukemia, Lymphoma, Abnormal dense granule content, Abnormal platelet shape, Acut...	OMIM:601399
Isolated Agammaglobulinemia	Abnormal lymphocyte morphology, Abnormality of the lymphatic system, Abnormality of the tonsils, ...	ORPHA:229717
Diamond-Blackfan Anemia 3	Increased mean corpuscular volume, Elevated red cell adenosine deaminase activity, Persistence of...	OMIM:610629
Adenosine Deaminase, Elevated, Hemolytic Anemia Due To	Reduced erythrocyte adenosine triphosphate concentration, Stomatocytosis, Erythroid hyperplasia, ...	OMIM:301083
Corticosteroid-Sensitive Aseptic Abscess Syndrome	Brain abscess, Abnormal lymph node morphology, Abnormality of the lymphatic system, Neutrophilia,...	ORPHA:54251
Hemochromatosis, Type 3	Anemia, Lymphopenia, Cirrhosis, Neutropenia	OMIM:604250
Gaucher Disease Type 3	Pancytopenia, Splenomegaly, Hepatomegaly, Thrombocytopenia, Anemia	ORPHA:77261
Omenn Syndrome	Splenomegaly, Hypoplasia of the thymus, Eosinophilia, Anemia, Hepatomegaly, Lymphadenopathy, Thro...	OMIM:603554
Autism, Susceptibility To, 3	Restrictive behavior, Motor stereotypy, Inflexible adherence to routines	OMIM:608049
Congenital Bile Acid Synthesis Defect Type 1	Neonatal cholestatic liver disease, Splenomegaly, Biliary tract abnormality, Cirrhosis, Hepatomeg...	ORPHA:79301
Granulomatous Disease, Chronic, Autosomal Recessive, 5	Acute pancreatitis, Recurrent tonsillitis, Granuloma, Lymphadenitis, Lymphopenia, Hepatosplenomeg...	OMIM:618935
Portal Hypertension, Noncirrhotic, 2	Nodular regenerative hyperplasia of liver, Ascites, Portal hypertension, Splenomegaly, Thrombocyt...	OMIM:619463
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia	Hepatomegaly, Lymphopenia, Leukopenia, Splenomegaly	OMIM:620210
Immunodeficiency 54	Reduced natural killer cell count, Splenomegaly, Lymphadenopathy, Hepatomegaly, Lymphoproliferati...	OMIM:609981
Hepatoportal Sclerosis	Nodular regenerative hyperplasia of liver, Periportal fibrosis, Abnormality of the hepatic vascul...	ORPHA:64743
Fanconi Anemia, Complementation Group D2	Bone marrow hypocellularity, Annular pancreas, Pancytopenia, Anemia, Reticulocytopenia, Neutropen...	OMIM:227646
Orthostatic Hypotension 2	Anemia	OMIM:618182
Activated Pi3K-Delta Syndrome	Recurrent tonsillitis, Lymphoma, Splenomegaly, Lymphadenopathy, B lymphocytopenia, Hepatomegaly	ORPHA:397596
Vitamin B12-Unresponsive Methylmalonic Acidemia	Leukopenia, Macrocytic anemia, Hepatomegaly, Pancreatitis, Thrombocytopenia, Anemia	ORPHA:27
Fanconi Anemia, Complementation Group N	Aplastic anemia, Medulloblastoma, Nephroblastoma, Acute myeloid leukemia, Neuroblastoma	OMIM:610832
Revesz Syndrome	Macrocytic anemia, Bone marrow hypocellularity, Aplastic anemia, Neutropenia	OMIM:268130
Dyskeratosis Congenita, X-Linked	Bone marrow hypocellularity, Pancytopenia, Leukopenia, Oropharyngeal squamous cell carcinoma, Hod...	OMIM:305000
Immune Dysregulation, Autoimmunity, And Autoinflammation	Anemia, Inguinal lymphadenopathy, Cervical lymphadenopathy	OMIM:620514
Rhabdoid Tumor	Renal neoplasm, Neoplasm of the liver, Lymphadenopathy, Thrombocytopenia, Anemia, Sarcoma, Neopla...	ORPHA:69077
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0	Hepatomegaly, Pancreatitis, Thrombocytopenia, Neutropenia, Anemia	ORPHA:289916
Diamond-Blackfan Anemia 5	Erythroid hypoplasia, Leukopenia, Reticulocytopenia, Macrocytic anemia	OMIM:612528
Caspase 8 Deficiency	Decreased CD4:CD8 ratio, Splenomegaly, Lymphadenopathy	OMIM:607271
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss	Hepatic bridging fibrosis, Hepatic fibrosis, Cholestasis, Splenomegaly, Jaundice	OMIM:619658
Intermediate Generalized Junctional Epidermolysis Bullosa	Anemia	ORPHA:79402
Classic Hodgkin Lymphoma	Bone marrow hypocellularity, Lymphoma, Neoplasm, Splenomegaly, Lymphadenopathy, Hepatomegaly	ORPHA:391
Pyoderma Gangrenosum	Myelodysplasia, Myeloid leukemia	ORPHA:48104
Tularemia	Brain abscess, Cutaneous abscess, Cervical lymphadenopathy, Abnormal nasopharyngeal adenoid morph...	ORPHA:3392
Gaucher Disease Type 2	Hepatomegaly, Splenomegaly	ORPHA:77260
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type	Hepatomegaly, Splenomegaly	ORPHA:2204
Lesch-Nyhan Syndrome	Anemia	ORPHA:510
Sézary Syndrome	Neoplasm of the skin, Lymphoma, Abnormal lymphocyte morphology, Splenomegaly, Lymphadenopathy, He...	ORPHA:3162
Porphyria Due To Ala Dehydratase Deficiency	Abnormal erythrocyte enzyme concentration or activity, Myeloproliferative disorder	ORPHA:100924
Infantile Liver Failure Syndrome 1	Anemia, Hepatomegaly, Hepatic steatosis, Macrocytic anemia	OMIM:615438
Sickle Cell Anemia	Splenic infarction, Cholelithiasis, Hypochromic anemia, Increased mean corpuscular volume, Pigmen...	ORPHA:232
Spondyloenchondrodysplasia	Granuloma, Hepatitis, Pancytopenia, Autoimmune hemolytic anemia, Enchondroma, Autoimmune thromboc...	ORPHA:1855
Coproporphyria, Hereditary	Hepatomegaly, Jaundice, Splenomegaly	OMIM:121300
Senior-Loken Syndrome 4	Anemia	OMIM:606996
Cholestasis, Progressive Familial Intrahepatic, 10	Portal fibrosis, Splenomegaly, Acholic stools, Hepatomegaly, Jaundice	OMIM:619868
Alpha-1-Antitrypsin Deficiency	Cirrhosis, Splenomegaly, Hepatocellular carcinoma	OMIM:613490
Cholestasis-Lymphedema Syndrome	Neonatal cholestatic liver disease, Splenomegaly, Cirrhosis, Hepatomegaly, Jaundice	OMIM:214900
Pseudo-Torch Syndrome 3	Lymphadenitis, Leukocytosis, Cardiomegaly, Congenital thrombocytopenia, Anemia	OMIM:618886
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation	Abnormally low T cell receptor excision circle level, Lymphopenia, Lymph node hypoplasia, Splenom...	OMIM:602450
Letterer-Siwe Disease	Hepatosplenomegaly, Neutropenia, Thrombocytopenia, Anemia, Jaundice	OMIM:246400
Fetal Cytomegalovirus Syndrome	Hepatitis, Splenomegaly, Hepatomegaly, Thrombocytopenia, Anemia, Jaundice	ORPHA:294
Ovalocytosis, Hereditary Hemolytic, With Defective Erythropoiesis	Hemolytic anemia, Anemia of inadequate production, Elliptocytosis	OMIM:166910
Infantile Sialic Acid Storage Disease	Ascites, Splenomegaly, Cardiomegaly, Hepatomegaly, Vacuolated lymphocytes	OMIM:269920
Hereditary Elliptocytosis	Cholelithiasis, Stomatocytosis, Abnormal erythrocyte morphology, Congenital hemolytic anemia, Ret...	ORPHA:288
Pearson Syndrome	Bone marrow hypocellularity, Abnormal bone marrow cell morphology, Exocrine pancreatic insufficie...	ORPHA:699
Spinocerebellar Ataxia, Autosomal Recessive 21	Hepatic bridging fibrosis, Hepatomegaly, Splenomegaly, Hepatic fibrosis	OMIM:616719
Thrombocytopenia 11 With Multiple Congenital Anomalies And Dysmorphic Facies	Lymphopenia, Pancytopenia, Leukopenia, Thrombocytopenia, Anemia	OMIM:620654
Griscelli Syndrome	Bone marrow hypocellularity, Hepatitis, Ascites, Leukopenia, Splenomegaly, Lymphadenopathy, Throm...	ORPHA:381
Aicardi-Goutieres Syndrome 7	Hepatitis, Pancytopenia, Splenomegaly, Hepatic steatosis, Hepatomegaly, Generalized lymphadenopat...	OMIM:615846
Pfapa Syndrome	Hepatomegaly, Splenomegaly, Lymphadenopathy	ORPHA:42642
Turcot Syndrome With Polyposis	Glioma, Hepatoblastoma, Brain neoplasm, Desmoid tumors, Basal cell carcinoma, Leukemia, Glioblast...	ORPHA:99818
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7	Lymphopenia, Squamous cell carcinoma of the skin, Portal hypertension, Thrombocytopenia, Anemia, ...	OMIM:620365
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2	Pancytopenia, Left ventricular hypertrophy	OMIM:618321
Hemochromatosis, Type 4	Anemia, Hepatomegaly, Cirrhosis, Hepatic steatosis	OMIM:606069
Ataxia-Telangiectasia	Lymphoma, Lymphopenia, Decreased proportion of CD4-positive helper T cells, Abnormal B cell count...	OMIM:208900
Anal Fistula	Leukocytosis	ORPHA:228113
Congenital Disorder Of Glycosylation, Type Iio	Cholestatic liver disease, Hepatosplenomegaly, Splenomegaly, Prolonged neonatal jaundice, Cirrhos...	OMIM:616828
Mitochondrial Complex I Deficiency, Nuclear Type 39	Anemia, Cardiomegaly	OMIM:620135
Macrophage Activation Syndrome	Hemophagocytosis, Hepatitis, Splenomegaly, Hepatomegaly, Lymphadenopathy, Neutropenia, Thrombocyt...	ORPHA:158061
Amyloidosis, Hereditary Systemic 2	Cholestasis, Hepatomegaly, Splenomegaly	OMIM:105200
Seckel Syndrome 1	Pancytopenia	OMIM:210600
Cinca Syndrome	Leukocytosis, Splenomegaly, Hepatomegaly, Lymphadenopathy, Anemia, Abnormality of neutrophils, Ab...	ORPHA:1451
Sitosterolemia 1	Stomatocytosis, Giant platelets, Reticulocytosis, Splenomegaly, Episodic hemolytic anemia, Thromb...	OMIM:210250
Retinoblastoma	Pinealoma, Lymphoma, Ewing sarcoma, Retinoblastoma, Leukemia, Osteosarcoma	OMIM:180200
Thrombocytopenia, X-Linked, With Or Without Dyserythropoietic Anemia	Acanthocytosis, Congenital thrombocytopenia, Anemia of inadequate production, Poikilocytosis	OMIM:300367
Idiopathic Hypereosinophilic Syndrome	Portal fibrosis, Cervical lymphadenopathy, Hepatosplenomegaly, Thrombocytosis, Leukocytosis, Sple...	ORPHA:3260
Cholesteryl Ester Storage Disease	Hepatic bridging fibrosis, Hepatic fibrosis, Periportal fibrosis, Increased hepatic echogenicity,...	OMIM:278000
Glycogen Storage Disease Ixb	Hepatomegaly, Splenomegaly, Increased hepatic glycogen content	OMIM:261750
Felty Syndrome	Bone marrow hypocellularity, Lymphoma, Abnormal lymphocyte morphology, Splenomegaly, Hepatomegaly...	ORPHA:47612
Niemann-Pick Disease, Type A	Sea-blue histiocytosis, Microcytic anemia, Ascites, Splenomegaly, Hepatomegaly, Lymphadenopathy, ...	OMIM:257200
Mccune-Albright Syndrome	Bone marrow hypocellularity, Hepatitis, Cholestasis, Pancytopenia, Benign gastrointestinal tract ...	ORPHA:562
Congenital Rubella Syndrome	Splenomegaly, Hepatomegaly, Thrombocytopenia, Anemia, Jaundice	ORPHA:290
Focal Segmental Glomerulosclerosis 1	Anemia, Ascites	OMIM:603278
Cronkhite-Canada Syndrome	Gastrointestinal carcinoma, Stomach cancer, Intestinal polyposis, Splenomegaly, Neoplasm, Hepatom...	ORPHA:2930
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked	Hepatitis, Decreased FOXP3-expressing T cell count, Eosinophilia, Coombs-positive hemolytic anemi...	OMIM:304790
Joubert Syndrome 33	Splenomegaly	OMIM:617767
Diamond-Blackfan Anemia	Adenocarcinoma of the colon, Macrocytic dyserythropoietic anemia, Increased mean corpuscular volu...	ORPHA:124
Drug-Induced Autoimmune Hemolytic Anemia	Splenomegaly, Autoimmune hemolytic anemia	ORPHA:90037
Hemolytic Anemia, Congenital, X-Linked	Jaundice, Hemolytic anemia	OMIM:301015
Cholesteryl Ester Storage Disease	Hepatomegaly, Jaundice, Cirrhosis, Splenomegaly	ORPHA:75234
Cholestasis, Progressive Familial Intrahepatic, 9	Malformation of the hepatic ductal plate, Intrahepatic cholestasis, Micronodular cirrhosis, Porta...	OMIM:619849
Rothmund-Thomson Syndrome	Neoplasm of the skin, Basal cell carcinoma, Aplastic anemia, Melanoma, Anemia, Squamous cell carc...	ORPHA:2909
Fragile X Syndrome	Recurrent hand flapping, Abnormal head movements, Hyperactivity, Self-biting	OMIM:300624
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts	Hepatosplenomegaly, Reticulocytopenia, Dysplastic erythropoesis, Elevated hepatic iron concentrat...	ORPHA:300298
Majeed Syndrome	Abnormal bone marrow cell morphology, Leukocytosis, Splenomegaly, Hypochromic microcytic anemia, ...	ORPHA:77297
Episodic Ataxia Type 4	Abnormal head movements	ORPHA:79136
Gray Platelet Syndrome	Myelofibrosis, Splenomegaly, Abnormal number of alpha granules, Thrombocytopenia	OMIM:139090
Nephronophthisis 19	Malformation of the hepatic ductal plate, Hepatic fibrosis, Cholestasis, Splenomegaly, Hepatomega...	OMIM:616217
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5	Anemia, Neutropenia	OMIM:617056
Rh Deficiency Syndrome	Stomatocytosis, Hepatosplenomegaly, Reticulocytosis, Macrocytic anemia, Anisocytosis, Spherocytos...	ORPHA:71275
Rothmund-Thomson Syndrome Type 1	Neoplasm of the skin, Basal cell carcinoma, Aplastic anemia, Melanoma, Anemia, Squamous cell carc...	ORPHA:221008
Paroxysmal Nocturnal Hemoglobinuria	Pancytopenia, Leukopenia, Erythroid hyperplasia, Reticulocytosis, Abnormal erythrocyte enzyme con...	ORPHA:447
Lipodystrophy, Congenital Generalized, Type 3	Hepatomegaly, Hepatosplenomegaly, Splenomegaly, Hepatic steatosis	OMIM:612526
Cholestasis-Lymphedema Syndrome	Portal hypertension, Splenomegaly, Neonatal cholestatic liver disease, Biliary tract abnormality,...	ORPHA:1414
Mevalonic Aciduria	Splenomegaly	ORPHA:29
Fanconi Anemia, Complementation Group B	Aplastic anemia, Thrombocytopenia	OMIM:300514
Coach Syndrome 3	Anemia, Portal fibrosis	OMIM:619113
Rh-Null, Amorph Type	Stomatocytosis, Hemolytic anemia, Reticulocytosis, Anisocytosis	OMIM:617970
Nephropathy-Deafness-Hyperparathyroidism Syndrome	Anemia	ORPHA:2668
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 8	Nodular regenerative hyperplasia of liver, Increased mean corpuscular volume, Portal hypertension...	OMIM:620367
Osteopetrosis With Renal Tubular Acidosis	Bone marrow hypocellularity, Pancytopenia, Leukopenia, Enlarged tonsils, Hepatomegaly, Thrombocyt...	ORPHA:2785
Mitochondrial Complex Iv Deficiency, Nuclear Type 3	Splenomegaly, Macrocytic anemia	OMIM:619046
Rothmund-Thomson Syndrome Type 2	Neoplasm of the skin, Basal cell carcinoma, Aplastic anemia, Lymphoma, Melanoma, Anemia, Squamous...	ORPHA:221016
Fish-Eye Disease	Hepatomegaly, Splenomegaly, Lymphadenopathy	ORPHA:79292
Eosinophilic Gastroenteritis	Anemia, Eosinophilia, Leukocytosis, Ascites	ORPHA:2070
Ornithine Transcarbamylase Deficiency	Splenomegaly	ORPHA:664
Immunodeficiency 92	Thrombocytosis, Leukocytosis, Sclerosing cholangitis, Lymphocytosis, Decreased proportion of clas...	OMIM:619652
Noonan Syndrome 6	Juvenile myelomonocytic leukemia	OMIM:613224
Retinitis Pigmentosa And Erythrocytic Microcytosis	Leukopenia, Elliptocytosis, Anisocytosis, Hypochromia, Poikilocytosis, Anemia, Thrombocytopenia, ...	OMIM:616959
3-Methylglutaconic Aciduria, Type Viia	Anemia, Neutropenia, Anisopoikilocytosis	OMIM:619835
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation	Lymphopenia, Autoimmune hemolytic anemia, Splenomegaly, Lymphadenopathy, Hepatomegaly, Autoimmune...	OMIM:616100
Pyropoikilocytosis, Hereditary	Hemolytic anemia, Microspherocytosis, Pyropoikilocytosis, Elliptocytosis	OMIM:266140
Combined Oxidative Phosphorylation Deficiency 41	Anemia, Cardiomegaly	OMIM:618838
Martin-Probst Syndrome	Pancytopenia	OMIM:300519
Neuraminidase Deficiency	Ascites, Splenomegaly, Cardiomegaly, Hepatomegaly, Vacuolated lymphocytes, Bone-marrow foam cells	OMIM:256550
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4	Leukemia, Myelodysplasia	OMIM:619951
Hemochromatosis, Type 2A	Hepatomegaly, Cirrhosis, Splenomegaly	OMIM:602390
Proteasome-Associated Autoinflammatory Syndrome 4	Hepatomegaly, Lymphadenopathy, Splenomegaly, Autoimmune hemolytic anemia	OMIM:619183
Elliptocytosis 3	Intermittent jaundice, Pyropoikilocytosis, Elliptocytosis, Decreased mean corpuscular volume, Chr...	OMIM:617948
Immunodeficiency, Common Variable, 7	Splenomegaly	OMIM:614699
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant	Stomatocytosis, Splenomegaly, Thrombocytopenia, Hemolytic anemia, Increased mean platelet volume	OMIM:153670
Hurler-Scheie Syndrome	Hepatomegaly, Abnormality of the tonsils, Splenomegaly	ORPHA:93476
Congenital Dyserythropoietic Anemia Type Iii	Increased mean corpuscular volume, Abnormal erythrocyte morphology, Anisocytosis, Poikilocytosis,...	ORPHA:98870
Spherocytosis, Type 3	Hemolytic anemia, Spherocytosis	OMIM:270970
Hydatidiform Mole	Anemia	ORPHA:99927
Nephronophthisis 9	Anemia	OMIM:613824
Farber Lipogranulomatosis	Hepatomegaly, Splenomegaly, Lipogranulomatosis	OMIM:228000
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4	Anemia	OMIM:613092
Immunodeficiency 10	Splenomegaly, Autoimmune hemolytic anemia, Abnormal lymphocyte count, Lymphadenopathy, Hepatomega...	OMIM:612783
Kasabach-Merritt Phenomenon	Neoplasm of the skin, Microangiopathic hemolytic anemia, Capillary hemangioma, Leukopenia, Reticu...	ORPHA:2330
Wilson Disease	Hepatitis, Acute hepatitis, Hepatic steatosis, Splenomegaly, Hepatomegaly, Cirrhosis, Thrombocyto...	ORPHA:905
Elliptocytosis 2	Hemolytic anemia, Reticulocytosis, Elliptocytosis	OMIM:130600
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome	Cholestasis, Portal hypertension, Splenomegaly, Hepatomegaly, Jaundice	ORPHA:59303
Familial Benign Copper Deficiency	Anemia	ORPHA:1551
Intermediate Osteopetrosis	Anemia, Hepatosplenomegaly	ORPHA:210110
Glycogen Storage Disease Xii	Normocytic anemia, Cholelithiasis, Splenomegaly, Cholecystitis, Decreased erythrocyte fructose-1,...	OMIM:611881
Relapsing Fever	Leukopenia, Leukocytosis, Thrombocytopenia, Neutrophilia, Anemia, Jaundice	ORPHA:91547
Autoimmune Lymphoproliferative Syndrome	Neoplasm of the skin, Lymphopenia, Hypersplenism, Decreased proportion of CD4-positive helper T c...	ORPHA:3261
Cholestasis, Progressive Familial Intrahepatic, 3	Intrahepatic cholestasis, Portal fibrosis, Portal inflammation, Ascites, Splenomegaly, Cirrhosis,...	OMIM:602347
Good Syndrome	Thymoma, Aplasia/Hypoplasia of the thymus, Abnormal leukocyte morphology, Thrombocytopenia, Anemi...	ORPHA:169105
Peutz-Jeghers Syndrome	Biliary tract neoplasm, Gastrointestinal carcinoma, Pancreatic adenocarcinoma, Neoplasm of the co...	ORPHA:2869
Bazex Syndrome	Anemia, Liposarcoma, Lung adenocarcinoma, Neoplasm	ORPHA:166113
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome	Hepatic fibrosis, Cholelithiasis, Abnormality of the spleen, Hepatosplenomegaly, Pancytopenia, Sp...	ORPHA:2072
Gaucher Disease	Splenic infarction, Cholelithiasis, Hepatitis, Pancytopenia, Leukopenia, Splenomegaly, Hepatomega...	ORPHA:355
Adult-Onset Still Disease	Bone marrow hypocellularity, Hepatitis, Leukocytosis, Splenomegaly, Hepatomegaly, Generalized lym...	ORPHA:829
Combined Immunodeficiency Due To Crac Channel Dysfunction	Neoplasm, Splenomegaly, Lymphadenopathy, Thrombocytopenia, Hepatomegaly, Hemolytic anemia	ORPHA:169090
Chediak-Higashi Syndrome	Hemophagocytosis, Leukopenia, Giant neutrophil granules, Splenomegaly, Hepatomegaly, Abnormal den...	OMIM:214500
Hereditary Chronic Pancreatitis	Pancreatic calcification, Jaundice, Recurrent pancreatitis, Leukocytosis	ORPHA:676
Tatton-Brown-Rahman Syndrome	Neuroendocrine neoplasm, Myeloid leukemia	ORPHA:404443
Copper Deficiency, Familial Benign	Anemia	OMIM:121270
Glycogen Storage Disease Ixa1	Hepatomegaly, Splenomegaly	OMIM:306000
Autosomal Dominant Spastic Ataxia Type 1	Dysphagia, Jerky head movements	ORPHA:251282
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency	Lymphoma, Autoimmune hemolytic anemia, Splenomegaly, Lymphadenopathy, Neutropenia in presence of ...	ORPHA:436159
Prolidase Deficiency	Splenomegaly, Prolonged neonatal jaundice, Hepatomegaly, Thrombocytopenia, Anemia	OMIM:170100
Familial Hemophagocytic Lymphohistiocytosis	Cholestatic liver disease, Hemophagocytosis, Splenomegaly, Hepatomegaly, Abnormality of multiple ...	ORPHA:540
Nijmegen Breakage Syndrome	Acute leukemia, Glioma, Lymphoma, Neoplasm, Autoimmune hemolytic anemia, B-cell lymphoma, Thrombo...	ORPHA:647
Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency	Anemia, Bone marrow hypocellularity, Thrombocytopenia, Neutropenia	OMIM:614520
Proteasome-Associated Autoinflammatory Syndrome 3	Lymphopenia, Splenomegaly, Hepatomegaly, Lymphadenopathy, Thrombocytopenia, Anemia	OMIM:617591
Cholestasis, Progressive Familial Intrahepatic, 2	Intrahepatic cholestasis, Splenomegaly, Intermittent jaundice, Cirrhosis, Hepatomegaly, Hepatocel...	OMIM:601847
Down Syndrome	Polycythemia, Acute megakaryocytic leukemia, Abnormality of the lymphatic system, Thrombocytopeni...	ORPHA:870
Hemolytic Uremic Syndrome, Atypical, 8, With Rhizomelic Short Stature	Lymphopenia, Leukopenia, Neutropenia, Schistocytosis, Anemia, Thrombocytopenia, Hemolytic anemia	OMIM:301110
Hemochromatosis, Type 5	Anemia, Elevated hepatic iron concentration	OMIM:615517
Bloom Syndrome	Neoplasm of the skin, Recurrent tonsillitis, Lymphoma, Malignant genitourinary tract tumor, Neopl...	ORPHA:125
Crimean-Congo Hemorrhagic Fever	Ascites, Pancytopenia, Leukopenia, Leukocytosis, Splenomegaly, Cholecystitis, Lymphadenopathy, Th...	ORPHA:99827
Congenital Pulmonary Lymphangiectasia	Ascites, Hepatomegaly, Splenomegaly	ORPHA:2414
Sarcoidosis, Susceptibility To, 1	Pancytopenia, Splenomegaly, Generalized lymphadenopathy, Hepatomegaly, Mediastinal lymphadenopathy	OMIM:181000
Autoinflammation With Arthritis And Dyskeratosis	Laryngeal papilloma, Hypereosinophilia, Splenomegaly, Autoimmune hemolytic anemia, Hepatomegaly	OMIM:617388
Hemophagocytic Lymphohistiocytosis, Familial, 1	Hemophagocytosis, Leukopenia, Splenomegaly, Hepatomegaly, Lymphadenopathy, Thrombocytopenia, Anem...	OMIM:267700
Common Variable Immunodeficiency	Lymphoma, Lymphopenia, Abnormality of the liver, Splenomegaly, Gastrointestinal stroma tumor, Lym...	ORPHA:1572
Bone Marrow Failure Syndrome 5	Erythroid hypoplasia, Pure red cell aplasia, Anemia	OMIM:618165
Ovalocytosis, Southeast Asian	Hemolytic anemia, Elliptocytosis	OMIM:166900
Umbilical Cord Ulceration-Intestinal Atresia Syndrome	Anemia	ORPHA:3405
Orotic Aciduria	Folate-unresponsive megaloblastic anemia, Anisocytosis, Hypochromia, Poikilocytosis, Pyrimidine-r...	OMIM:258900
Stormorken Syndrome	Howell-Jolly bodies, Thrombocytopenia, Anemia, Asplenia, Hypoplastic spleen	OMIM:185070
Rh-Null, Regulator Type	Jaundice, Stomatocytosis, Hemolytic anemia	OMIM:268150
Congenital Factor Xiii Deficiency	Myeloid leukemia	ORPHA:331
Immunodeficiency With Hyper-Igm, Type 1	Absence of lymph node germinal center, Hepatitis, Chronic hepatitis, Splenomegaly, Sclerosing cho...	OMIM:308230
Tarp Syndrome	Extramedullary hematopoiesis	ORPHA:2886
Purine Nucleoside Phosphorylase Deficiency	Lymphoma, Lymphopenia, Lymph node hypoplasia, Autoimmune hemolytic anemia, Splenomegaly, Neutrope...	OMIM:613179
Hereditary Orotic Aciduria	Anemia, Splenomegaly	ORPHA:30
Familial Pseudohyperkalemia	Stomatocytosis, Increased mean corpuscular volume, Reticulocytosis, Episodic hemolytic anemia	ORPHA:90044
Diffuse Alveolar Hemorrhage	Anemia, Leukocytosis, Thrombocytopenia	ORPHA:90060
Rajab Interstitial Lung Disease With Brain Calcifications 1	Cholestasis, Ascites, Pancytopenia, Portal hypertension, Hepatic steatosis, Cirrhosis, Anemia, Bi...	OMIM:613658
Congenital Enterovirus Infection	Fetal ascites, Hepatitis, Cholestasis, Leukopenia, Leukocytosis, Abnormal macrophage morphology, ...	ORPHA:292
Alpha-Mannosidosis, Infantile Form	Hepatosplenomegaly, Pancytopenia	ORPHA:309282
Retinoblastoma	Pineoblastoma, Glioma, Lymphoma, Ewing sarcoma, Retinoblastoma, Melanoma, Leiomyosarcoma, Leukemi...	ORPHA:790
Hoyeraal-Hreidarsson Syndrome	Bone marrow hypocellularity, Neoplasm, Abnormal leukocyte morphology, Thrombocytopenia, Anemia	ORPHA:3322
Triosephosphate Isomerase Deficiency	Normocytic anemia, Cholelithiasis, Splenomegaly, Macrocytic anemia, Cholecystitis, Prolonged neon...	OMIM:615512
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3	Anemia, Thrombocytopenia, Microangiopathic hemolytic anemia	OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2	Anemia, Thrombocytopenia, Microangiopathic hemolytic anemia	OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6	Anemia, Thrombocytopenia, Microangiopathic hemolytic anemia	OMIM:612926
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay	Sideroblastic anemia, Splenomegaly, B lymphocytopenia, Hypochromic microcytic anemia, Schistocytosis	OMIM:616084
Muckle-Wells Syndrome	Anemia, Hepatomegaly, Splenomegaly	ORPHA:575
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4	Anemia, Thrombocytopenia, Microangiopathic hemolytic anemia	OMIM:612924
Bloom Syndrome	Lymphoma, Hepatic steatosis, Squamous cell carcinoma, Leukemia, Elevated hemoglobin A1c	OMIM:210900
Immunodeficiency 113 With Autoimmunity And Autoinflammation	Neutrophilia, Hepatitis, Leukocytosis, Autoimmune hemolytic anemia, Splenomegaly, Monocytosis, He...	OMIM:620565
Generalized Juvenile Polyposis/Juvenile Polyposis Coli	Duodenal polyposis, Multiple gastric polyps, Small intestinal polyposis, Adenomatous colonic poly...	ORPHA:329971
Uridine 5-Prime Monophosphate Hydrolase Deficiency, Hemolytic Anemia Due To	Hemolytic anemia, Reticulocytosis	OMIM:266120
Imerslund-Grasbeck Syndrome 2	Anemia, Megaloblastic anemia	OMIM:618882
Chronic Granulomatous Disease	Splenomegaly, Hepatomegaly, Abnormality of neutrophils, Mediastinal lymphadenopathy, Liver abscess	ORPHA:379
Bile Acid Synthesis Defect, Congenital, 2	Hepatomegaly, Intrahepatic cholestasis, Jaundice, Splenomegaly	OMIM:235555
Dubowitz Syndrome	Acute lymphoblastic leukemia, Aplastic anemia, Lymphoma, Neuroblastoma	OMIM:223370
Icf Syndrome	Anemia, Lymphopenia, Abnormality of neutrophils	ORPHA:2268
Gastrointestinal Stromal Tumor	Neoplasm of the colon, Abnormality of the liver, Esophageal neoplasm, Neoplasm of the small intes...	ORPHA:44890
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy	Intestinal lymphangiectasia, Ascites, Hepatomegaly, Iron deficiency anemia, Thrombocytosis, Anemia	OMIM:226300
Psoriasis 14, Pustular	Cholangitis, Leukocytosis, Neutrophilia	OMIM:614204
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis	Hepatocellular necrosis, Hepatosplenomegaly, Elliptocytosis, Reticulocytosis, Leukocytosis, Aniso...	OMIM:618278
Caroli Disease	Intrahepatic cholestasis, Cholelithiasis, Hepatic fibrosis, Biliary cirrhosis, Cholestasis, Ascit...	ORPHA:53035
Sclerosing Cholangitis, Neonatal	Hepatic bridging fibrosis, Portal fibrosis, Biliary cirrhosis, Cholestasis, Ascites, Portal hyper...	OMIM:617394
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome	Bone marrow hypocellularity, Megakaryocyte dysplasia, Lymphopenia, Leukopenia, Reticulocytopenia,...	ORPHA:508542
Legius Syndrome	Acute monocytic leukemia, Vestibular schwannoma, Nephroblastoma, Multiple lipomas, Non-small cell...	ORPHA:137605
Cholestasis, Progressive Familial Intrahepatic, 1	Cholelithiasis, Splenomegaly, Cirrhosis, Intrahepatic cholestasis with episodic jaundice, Hepatom...	OMIM:211600
Kaposiform Lymphangiomatosis	Hepatosplenomegaly, Splenomegaly, Lymphangioma, Abnormality of the lymphatic system, Abnormal lym...	ORPHA:464329
Juvenile Xanthogranuloma	Myeloproliferative disorder	ORPHA:158000
Degcags Syndrome	Cholestasis, Hepatosplenomegaly, Pancytopenia, Leukopenia, Hepatomegaly, Abnormal spleen morpholo...	OMIM:619488
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5	Anemia, Thrombocytopenia, Microangiopathic hemolytic anemia	OMIM:612925
Autoinflammation, Panniculitis, And Dermatosis Syndrome	Increased proportion of CD4-positive T cells, Leukocytosis, Lymphadenopathy, Neutrophilia	OMIM:617099
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency	Hepatic fibrosis, Lymphadenitis, Cholestasis, Leukocytosis, Splenomegaly, Hepatomegaly, Lymphaden...	OMIM:615895
Glycogen Storage Disease Ixc	Splenomegaly, Increased hepatic glycogen content, Cirrhosis, Hepatomegaly, Bile duct proliferation	OMIM:613027
Castleman Disease	Mediastinal lymphadenopathy, Follicular hyperplasia, Jaundice, Generalized lymphadenopathy, Lymph...	ORPHA:160
Hereditary Mixed Polyposis Syndrome	Adenomatous colonic polyposis, Endometrial carcinoma, Prostate cancer, Thyroid carcinoma, Duodena...	ORPHA:157794
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency	Lymphopenia, Autoimmune hemolytic anemia, Splenomegaly, Reduced red cell adenosine deaminase leve...	OMIM:102700
Adams-Oliver Syndrome 6	Hepatic fibrosis, Portal hypertension, Splenomegaly	OMIM:616589
Aceruloplasminemia	Anemia	OMIM:604290
Hyper-Igd Syndrome	Lymphadenitis, Hepatosplenomegaly, Leukocytosis, Splenomegaly, Renal angiomyolipoma, Lymphadenopa...	OMIM:260920
Carney Triad	Adrenocortical adenoma, Ascites, Pheochromocytoma, Gastrointestinal stroma tumor, Leiomyosarcoma,...	ORPHA:139411
Fanconi Anemia, Complementation Group R	Anemia, Bone marrow hypocellularity	OMIM:617244
Anemia, Congenital Dyserythropoietic, Type Iiia	Macrocytic anemia, Jaundice, Congenital hypoplastic anemia, Anemia of inadequate production	OMIM:105600
Acute Generalized Exanthematous Pustulosis	Cholestasis, Leukocytosis, Eosinophilia, Lymphadenopathy, Neutropenia, Neutrophilia	ORPHA:293173
Niemann-Pick Disease, Type C1	Fetal ascites, Sea-blue histiocytosis, Splenomegaly, Prolonged neonatal jaundice, Hepatomegaly, B...	OMIM:257220
Mosaic Variegated Aneuploidy Syndrome 1	Leukemia, Embryonal rhabdomyosarcoma, Nephroblastoma	OMIM:257300
Corticosteroid-Binding Globulin Deficiency	Anemia	OMIM:611489
Primary Intestinal Lymphangiectasia	Peritoneal effusion, Intestinal lymphangiectasia, Ascites, Lymphopenia, Abnormal lymphatic vessel...	ORPHA:90362
Gastrointestinal Defects And Immunodeficiency Syndrome 1	Lymphopenia, Leukocytosis, Autoimmune hemolytic anemia, Interface hepatitis, Hypoplasia of the th...	OMIM:243150
Systemic-Onset Juvenile Idiopathic Arthritis	Hepatomegaly, Splenomegaly, Lymphadenopathy	ORPHA:85414
Mcleod Syndrome	Hepatomegaly, Acanthocytosis, Splenomegaly	OMIM:300842
Bile Acid Synthesis Defect, Congenital, 1	Intrahepatic cholestasis, Giant cell hepatitis, Splenomegaly, Cirrhosis, Acholic stools, Hepatome...	OMIM:607765
Neutropenia, Severe Congenital, 4, Autosomal Recessive	Lymphopenia, Hepatosplenomegaly, Leukopenia, Splenomegaly, Erythroid hypoplasia, Hypoplasia of th...	OMIM:612541
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects	Stomatocytosis, Splenomegaly, Hepatomegaly, Jaundice, Hemolytic anemia	OMIM:608885
Granulomatous Disease, Chronic, Autosomal Recessive, 1	Lymphadenitis, Impaired oxidative burst, Splenomegaly, Granulomatosis, Lymphadenopathy, Rectal ab...	OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2	Lymphadenitis, Impaired oxidative burst, Splenomegaly, Granulomatosis, Lymphadenopathy, Rectal ab...	OMIM:233710
Tempi Syndrome	Ascites, Increased hematocrit, Hemangioma, Polycythemia	ORPHA:284227
Budd-Chiari Syndrome	Ascites, Portal hypertension, Splenomegaly, Cholecystitis, Peritonitis, Cirrhosis, Hepatomegaly, ...	ORPHA:131
Epilepsy With Eyelid Myoclonia	Abnormal head movements	ORPHA:139431
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis	Hepatomegaly, Splenomegaly, Abscess, Neutrophilia	OMIM:612852
Dubowitz Syndrome	Lymphoma, Neoplasm, Thrombocytopenia, Anemia, Abnormality of neutrophils, Acute lymphoblastic leu...	ORPHA:235
Osteopetrosis, Autosomal Recessive 9	Anemia	OMIM:620366
Granulomatous Disease, Chronic, Autosomal Recessive, 4	Lymphadenitis, Impaired oxidative burst, Splenomegaly, Granulomatosis, Lymphadenopathy, Rectal ab...	OMIM:233690
Hemochromatosis, Type 1	Ascites, Splenomegaly, Cardiomegaly, Cirrhosis, Hepatomegaly, Hepatocellular carcinoma	OMIM:235200
Cryptococcosis	Neoplasm, Peritonitis, Cirrhosis, Lymphoid leukemia, Mediastinal lymphadenopathy	ORPHA:1546
Macrocephaly/Autism Syndrome	Hepatomegaly, Lymphopenia, Splenomegaly	OMIM:605309
Progressive Supranuclear Palsy-Corticobasal Syndrome	Dysphagia, Jerky head movements	ORPHA:240103
Systemic Capillary Leak Syndrome	Pancreatitis, Leukocytosis, Multiple myeloma	ORPHA:188
Huntington Disease-Like 1	Restlessness, Abnormal head movements, Jerky head movements	ORPHA:157941
Von Hippel-Lindau Syndrome	Retinal capillary hemangioma, Polycythemia, Pancreatic cysts, Pheochromocytoma, Paraganglioma, Re...	OMIM:193300
Hermansky-Pudlak Syndrome 2	Reduced natural killer cell count, Enlarged platelet dense granules, Hepatosplenomegaly, Decrease...	OMIM:608233
Amoebiasis Due To Entamoeba Histolytica	Anemia, Leukocytosis, Lung abscess, Liver abscess	ORPHA:67
Immunodeficiency 22	Ascites, Decreased proportion of CD4-positive helper T cells, Abscess, Thrombocytopenia, Anemia	OMIM:615758
Adams-Oliver Syndrome 5	Hypersplenism, Splenomegaly, Portal vein thrombosis, Right ventricular hypertrophy, Cavernous hem...	OMIM:616028
Bile Acid Synthesis Defect, Congenital, 3	Hepatic bridging fibrosis, Intrahepatic cholestasis, Hepatitis, Splenomegaly, Ductal bile plugs, ...	OMIM:613812
Legionnaires Disease	Bone marrow hypocellularity, Hepatitis, Lymphopenia, Splenomegaly, Pancreatitis, Lymphadenopathy,...	ORPHA:549
Infantile Liver Failure Syndrome 3	Hepatic bridging fibrosis, Cholestasis, Hepatic steatosis, Splenomegaly, Hepatomegaly, Jaundice	OMIM:618641
Sepsis In Premature Infants	Leukocytosis, Splenomegaly, Hepatomegaly, Thrombocytopenia, Neutropenia, Anemia, Jaundice	ORPHA:90051
Mixed Connective Tissue Disease	Mediastinal lymphadenopathy, Leukopenia, Splenomegaly, Lymphadenopathy, Hepatomegaly, Hemolytic a...	ORPHA:809
Immunodeficiency 47	Accessory spleen, Normocytic anemia, Hepatic bridging fibrosis, Hepatic fibrosis, Cholestasis, Ex...	OMIM:300972
Nephronophthisis 4	Anemia	OMIM:606966
Noonan Syndrome-Like Disorder With Or Without Juvenile Myelomonocytic Leukemia	Splenomegaly, Hepatosplenomegaly, Juvenile myelomonocytic leukemia	OMIM:613563
Chronic Visceral Acid Sphingomyelinase Deficiency	Cholelithiasis, Hypersplenism, Splenomegaly, Hepatomegaly, Neoplasm of the liver, Cirrhosis, Thro...	ORPHA:77293
Gaucher Disease, Type Ii	Anemia, Hepatomegaly, Splenomegaly, Thrombocytopenia	OMIM:230900
Malt Lymphoma	Anemia, B-cell lymphoma, Mediastinal lymphadenopathy, Lymphadenopathy	ORPHA:52417
Pyomyositis	Testicular teratoma, Leukocytosis, Recurrent cutaneous abscess formation	ORPHA:764
Sarcoidosis, Susceptibility To, 2	Hepatomegaly, Mediastinal lymphadenopathy, Splenomegaly	OMIM:612387
Mosaic Variegated Aneuploidy Syndrome	Rhabdomyosarcoma, Ascites, Vaginal neoplasm, Stomach cancer, Myelodysplasia, Intestinal polyposis...	ORPHA:1052
Hermansky-Pudlak Syndrome 10	Hepatomegaly, Splenomegaly, Neutropenia	OMIM:617050
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)	Depletion of mitochondrial DNA in liver, Periportal fibrosis, Micronodular cirrhosis, Hepatocellu...	OMIM:251880
Urachal Cyst	Neoplasm, Leukocytosis, Abscess, Peritonitis, Abdominal mass	ORPHA:488
Neutrophilic Dermatosis, Acute Febrile	Anemia	OMIM:608068
Apolipoprotein C-Ii Deficiency	Hepatomegaly, Pancreatitis, Splenomegaly	OMIM:207750
Niemann-Pick Disease, Type C2	Fetal ascites, Sea-blue histiocytosis, Splenomegaly, Hepatomegaly, Prolonged neonatal jaundice, J...	OMIM:607625
Tangier Disease	Hepatosplenomegaly, Chronic noninfectious lymphadenopathy, Left ventricular hypertrophy, Orange d...	ORPHA:31150
Developmental And Epileptic Encephalopathy 50	Anemia, Acanthocytosis, Schistocytosis, Anisopoikilocytosis	OMIM:616457
Hyperparathyroidism, Neonatal Severe	Anemia, Hepatomegaly, Splenomegaly	OMIM:239200
Caroli Syndrome	Intrahepatic cholestasis, Hypersplenism, Leukopenia, Leukocytosis, Portal hypertension, Congenita...	ORPHA:480520
Nodular Non-Suppurative Panniculitis	Hepatomegaly, Splenomegaly	ORPHA:33577
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency	Hepatic fibrosis, Portal fibrosis, Cholestasis, Hepatic steatosis, Splenomegaly, Hepatomegaly, Ab...	ORPHA:264580
Poems Syndrome	Visceromegaly, Polycythemia, Ascites, Splenomegaly, Hemangioma, Lymphadenopathy, Thrombocytosis, ...	ORPHA:2905
Sandifer Syndrome	Anemia	ORPHA:71272
Granulomatous Disease, Chronic, X-Linked	Granuloma, Lymphadenitis, Ascites, Impaired oxidative burst, Splenomegaly, Granulomatosis, Lympha...	OMIM:306400
Childhood Absence Epilepsy	Punding, Attention deficit hyperactivity disorder, Jerky head movements	ORPHA:64280
Scheie Syndrome	Hepatomegaly, Splenomegaly	ORPHA:93474
Juvenile Polyposis Syndrome	Duodenal adenocarcinoma, Multiple gastric polyps, Anemia, Neoplasm of the stomach, Colon cancer	OMIM:174900
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis	Hepatic fibrosis, Cholestasis, Portal hypertension, Splenomegaly, Sclerosing cholangitis, Intrahe...	OMIM:607626
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency	Hepatic fibrosis, Splenomegaly, Hepatomegaly, Cirrhosis, Anemia, Hepatocellular adenoma, Hepatoce...	ORPHA:79240
Ivic Syndrome	Leukocytosis, Thrombocytopenia	ORPHA:2307
Familial Mediterranean Fever	Leukocytosis, Splenomegaly, Peritonitis, Neutrophilia, Hepatomegaly	OMIM:249100
Ellis Van Creveld Syndrome	Acute leukemia, Abnormal bone marrow cell morphology	ORPHA:289
Renal-Hepatic-Pancreatic Dysplasia 1	Malformation of the hepatic ductal plate, Hepatic fibrosis, Biliary cirrhosis, Polysplenia, Chole...	OMIM:208540
Q Fever	Granuloma, Hepatitis, Hepatosplenomegaly, Abnormality of the liver, Splenomegaly, Cholecystitis, ...	ORPHA:781
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency	Anemia, Lymphopenia, Abnormality of the pancreas	ORPHA:935
Lysinuric Protein Intolerance	Hemophagocytosis, Leukopenia, Splenomegaly, Hepatomegaly, Pancreatitis, Thrombocytopenia, Anemia	OMIM:222700
Nephronophthisis 1	Anemia	OMIM:256100
Pachydermoperiostosis	Neoplasm of the skin, Abnormal bone marrow cell morphology, Splenomegaly, Hepatomegaly, Anemia, N...	ORPHA:2796
Noonan Syndrome 2	Leukemia, Acute lymphoblastic leukemia	OMIM:605275
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2	Accessory spleen, Cholestatic liver disease, Polysplenia, Exocrine pancreatic insufficiency, Sple...	OMIM:619418
Immunodeficiency 31C	Lymphopenia, Autoimmune hemolytic anemia, Splenomegaly, Impaired lymphocyte transformation with p...	OMIM:614162
Pyruvate Dehydrogenase E2 Deficiency	Jerky head movements	OMIM:245348
Osteopetrosis, Autosomal Recessive 7	Anemia, Hepatomegaly, Splenomegaly	OMIM:612301
Cogan Syndrome	Anemia, Leukocytosis, Thrombocytosis	ORPHA:1467
Nephronophthisis 11	Anemia, Hepatic fibrosis	OMIM:613550
Kikuchi-Fujimoto Disease	Abnormal lymph node morphology, Cervical lymphadenopathy, Leukopenia, Splenomegaly, Hepatomegaly,...	ORPHA:50918
Interstitial Lung And Liver Disease	Hepatic fibrosis, Cholestasis, Hepatic steatosis, Hepatomegaly, Cirrhosis, Thrombocytosis, Anemia	OMIM:615486
17Q11 Microdeletion Syndrome	Glioma, Rhabdomyosarcoma, Schwannoma, Pheochromocytoma, Multiple mucosal neuromas, Atypical neuro...	ORPHA:97685
Autoinflammatory Disease, Systemic, With Vasculitis	Hepatic fibrosis, Cholestasis, Hepatosplenomegaly, Leukocytosis, Splenomegaly, Increased T cell c...	OMIM:620376
Chronic Graft Versus Host Disease	Ascites, Pancytopenia	ORPHA:99921
Autosomal Recessive Ataxia Due To Pex10 Deficiency	Abnormal head movements	ORPHA:247815
Porphyria, Congenital Erythropoietic	Cholelithiasis, Splenomegaly, Hepatomegaly, Thrombocytopenia, Reduced erythrocyte uroporphyrinoge...	OMIM:263700
Leukocyte Adhesion Deficiency	Bone marrow hypocellularity, Abnormality of neutrophil physiology, Recurrent tonsillitis, Polycyt...	ORPHA:2968
Huntington Disease-Like 3	Abnormal head movements	ORPHA:157946
Microcephaly-Lymphedema-Chorioretinopathy Syndrome	Leukemia, Lymphoma	ORPHA:2526
Shiga Toxin-Associated Hemolytic Uremic Syndrome	Microangiopathic hemolytic anemia, Leukocytosis, Reticulocytosis, Peritonitis, Pancreatitis, Schi...	ORPHA:90038
Noonan Syndrome	Hepatomegaly, Abnormality of the spleen, Juvenile myelomonocytic leukemia, Abnormality of the lym...	ORPHA:648
Glycogen Storage Disease Ib	Splenomegaly, Pancreatitis, Neutropenia, Pancreatic fibrosis, Hepatomegaly, Enlarged kidney, Hepa...	OMIM:232220
Hyperlipoproteinemia, Type I	Jaundice, Hepatosplenomegaly, Acute pancreatitis, Splenomegaly	OMIM:238600
Familial Tumoral Calcinosis	Hepatomegaly, Neoplasm of the skin, Splenomegaly	ORPHA:53715
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy	Perianal abscess, Hypochromic anemia, Leukocytosis, Thrombocytosis	OMIM:618213
Noonan Syndrome 3	Juvenile myelomonocytic leukemia	OMIM:609942
Lymphatic Malformation 7	Anemia, Ascites	OMIM:617300
Multiple Myeloma	Anemia, Splenomegaly, Lymphadenopathy	ORPHA:29073
Chime Syndrome	Acute leukemia	ORPHA:3474
Leukocyte Adhesion Deficiency, Type I	Leukocytosis, Rectal abscess	OMIM:116920
Hyperlipoproteinemia, Type Id	Hepatomegaly, Recurrent pancreatitis, Pancreatitis, Splenomegaly	OMIM:615947
Congenital Lipomatous Overgrowth, Vascular Malformations, And Epidermal Nevi	Lipoma, Splenomegaly, Nephroblastoma	OMIM:612918
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease	Hepatic fibrosis, Periportal fibrosis, Portal hypertension, Splenomegaly, Hepatic cysts, Hepatome...	OMIM:263200
Chronic Thromboembolic Pulmonary Hypertension	Myeloproliferative disorder, Neoplasm	ORPHA:70591
Down Syndrome	Myeloproliferative disorder, Acute megakaryocytic leukemia	OMIM:190685
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome	Polycythemia, Micronodular cirrhosis, Abnormality of the liver, Portal hypertension, Splenomegaly...	ORPHA:309854
Parenteral Nutrition-Associated Cholestasis	Hepatic fibrosis, Cholelithiasis, Portal hypertension, Hepatic steatosis, Splenomegaly, Biliary h...	ORPHA:567983
Brucellosis	Abnormal bone marrow cell morphology, Granuloma, Hypersplenism, Leukopenia, Leukocytosis, Splenom...	ORPHA:1304
Congenital Erythropoietic Porphyria	Neoplasm of the skin, Leukopenia, Erythroid hyperplasia, Reticulocytosis, Splenomegaly, Anisocyto...	ORPHA:79277
Senior-Loken Syndrome 1	Anemia	OMIM:266900
Rubinstein-Taybi Syndrome 1	Accessory spleen, Capillary hemangioma, Neoplasm, Leukemia, Hepatic hemangioma, Papillary cystade...	OMIM:180849
Schinzel-Giedion Syndrome	Annular pancreas, Ependymoma, Teratoma, Nephroblastoma, Facial hemangioma, Hepatoblastoma, Myeloi...	ORPHA:798
Syndromic Diarrhea	Hepatic fibrosis, Lymphopenia, Abnormality of the liver, Splenomegaly, Hypoplasia of the thymus, ...	ORPHA:84064
New-Onset Refractory Status Epilepticus	Abnormal head movements	ORPHA:363558
Isolated Biliary Atresia	Periportal fibrosis, Cholestasis, Atretic gallbladder, Splenomegaly, Prolonged neonatal jaundice,...	ORPHA:30391
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome	Hepatomegaly, Acute lymphoblastic leukemia	OMIM:280000
Reynolds Syndrome	Biliary cirrhosis, Cholestasis, Lymphopenia, Splenomegaly, Hepatomegaly, Jaundice	OMIM:613471
Tyrosinemia, Type I	Ascites, Splenomegaly, Pancreatic islet-cell hyperplasia, Hepatomegaly, Cirrhosis, Anemia, Enlarg...	OMIM:276700
Poland Syndrome	Acute leukemia, Abnormality of the liver, Neoplasm of the breast, Retinal hamartoma	ORPHA:2911
Primary Triglyceride Deposit Cardiomyovasculopathy	Hepatomegaly, Vacuolated lymphocytes, Pancreatitis, Splenomegaly	ORPHA:565612
Autosomal Recessive Polycystic Kidney Disease	Hepatic fibrosis, Periportal fibrosis, Cholestasis, Ascites, Hepatosplenomegaly, Hypersplenism, P...	ORPHA:731
Immunodeficiency 82 With Systemic Inflammation	Reduced natural killer cell count, Hepatitis, Decreased proportion of naive T cells, Splenomegaly...	OMIM:619381
Ogden Syndrome	Abnormal head movements	ORPHA:276432
Juvenile Polyposis/Hereditary Hemorrhagic Telangiectasia Syndrome	Gastrointestinal carcinoma, Juvenile gastrointestinal polyposis, Hepatic arteriovenous malformati...	OMIM:175050
Noonan Syndrome 1	Juvenile myelomonocytic leukemia, Neurofibrosarcoma, Amegakaryocytic thrombocytopenia	OMIM:163950
Sotos Syndrome	Small cell lung carcinoma, Neoplasm, Cholesteatoma, Astrocytoma, Hemangioma, Neuroblastoma, Prolo...	ORPHA:821
Metaphyseal Chondromatosis With D-2-Hydroxyglutaric Aciduria	Acute myelomonocytic leukemia, Multiple enchondromatosis, Cavernous hemangioma of the face, Lymph...	ORPHA:99646
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome	Jerky head movements	ORPHA:369837

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.

There is no histopathology data for Sipa1

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 Sipa1.

No publications found that use IMPC mice or data for Sipa1.

Order Mouse and ES Cells

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
Sipa1^{tm1b(EUCOMM)Hmgu}	Reporter-tagged deletion allele (with selection cassette)	Mice
Sipa1^{tm1a(EUCOMM)Hmgu}	KO first allele (reporter-tagged insertion with conditional potential)	Mice, Targeting vectors, ES Cells

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

The IMPC Newsletter

Get highlights of the most important data releases, news and events, delivered straight to your email inbox

Subscribe to newsletter

My Genes

About the IMPC

Data

Human Diseases

Publications

News

Blog

Help

IMPC Cloud

Contact us

Gene: Sipa1 MGI:107576

Gene Summary

IMPC Data Collections

IMPC Phenotype Summary

Phenotypes

lacZ Expression

Associated Images

X-ray

X-ray

X-ray

Embryo LacZ

Auditory Brain Stem Response

Human diseases caused by Sipa1 mutations

Histopathology

IMPC related publications

Order Mouse and ES Cells

The IMPC Newsletter

Access Data Release 21.1 Data