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Gene: Arhgef2 MGI:103264

Gene Summary

Name:

Rho/Rac guanine nucleotide exchange factor 2

Synonyms:

Lbcl1, GEF-H1, LFP40, P40, GEFH1, Lfc

Order Alleles

IMPC Data Collections

Body Weight Measurements
No Embryo Imaging Data
Viability Data

IMPC Phenotype Summary

Significant

Not Significant

Not tested

View all our phenotype data below

Phenotypes

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

Phenotype	Allele	Zyg	Life Stage	P Value
small spleen	Arhgef2^em1(IMPC)Mbp	HOM	Early adult	0.00
abnormal retina morphology	Arhgef2^em1(IMPC)Mbp	HOM	Early adult	6.91×10^-05
abnormal skin morphology	Arhgef2^em1(IMPC)Mbp	HOM	Early adult	0.00
thrombocytopenia	Arhgef2^em1(IMPC)Mbp	HOM	Early adult	9.14×10^-06
increased circulating total protein level	Arhgef2^em1(IMPC)Mbp	HOM	Early adult	3.50×10^-05
abnormal brain morphology	Arhgef2^em1(IMPC)Mbp	HOM	Early adult	0.00
decreased brain size	Arhgef2^em1(IMPC)Mbp	HOM	Early adult	0.00
increased circulating serum albumin level	Arhgef2^em1(IMPC)Mbp	HOM	Early adult	4.22×10^-05
small liver	Arhgef2^em1(IMPC)Mbp	HOM	Early adult	0.00
abnormal liver morphology	Arhgef2^em1(IMPC)Mbp	HOM	Early adult	0.00
abnormal spleen morphology	Arhgef2^em1(IMPC)Mbp	HOM	Early adult	0.00
increased circulating alkaline phosphatase level	Arhgef2^em1(IMPC)Mbp	HOM	Early adult	2.13×10^-06

Download data as: TSV XLS

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Viewing: all phenotypes

lacZ Expression

Expression data not available

Associated Images

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

X-ray

XRay Images Whole Body Dorso Ventral

48 Images

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X-ray

XRay Images Whole Body Lateral Orientation

16 Images

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Human diseases caused by Arhgef2 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 Arhgef2 (1 diseases)
Human diseases predicted to be associated with Arhgef2 (769 diseases)

The table below shows human diseases associated to Arhgef2 by orthology or direct annotation.

Disease	Similarity of phenotypes	Matching phenotypes	Source
Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations		Cerebellar vermis hypoplasia, Primary microcephaly, Hypoplasia of the pons	OMIM:617523

The table below shows human diseases predicted to be associated to Arhgef2 by phenotypic similarity.

Disease	Matching phenotypes	Source
Lissencephaly 1	Hypoplasia of the brainstem, Secondary microcephaly, Cerebellar hypoplasia, Abnormal cerebral whi...	OMIM:607432
Cortical Dysplasia, Complex, With Other Brain Malformations 3	Agyria, Hypoplasia of the corpus callosum, Microcephaly, Pachygyria, Cortical dysplasia, Thin cor...	OMIM:615411
Microlissencephaly	Lissencephaly, Cerebral cortical atrophy, Subcortical heterotopia, Cerebellar atrophy, Polymicrog...	ORPHA:1083
Lissencephaly 3	Cerebellar vermis hypoplasia, Polymicrogyria, Hypoplasia of the brainstem, Periventricular lamina...	OMIM:611603
Joubert Syndrome 13	Pachygyria, Cerebellar vermis hypoplasia, Molar tooth sign on MRI	OMIM:614173
Cortical Dysplasia, Complex, With Other Brain Malformations 10	Hypoplasia of the pons, Hypoplasia of the brainstem, Hypoplasia of the corpus callosum, Cerebella...	OMIM:618677
Neurodevelopmental Disorder With Microcephaly, Cortical Malformations, And Spasticity	Cerebellar atrophy, Cerebral atrophy, Hypoplasia of the brainstem, Polymicrogyria, Hypoplasia of ...	OMIM:618730
Cholestasis, Progressive Familial Intrahepatic, 10	Hypoalbuminemia, Portal fibrosis, Increased total bilirubin, Elevated circulating aspartate amino...	OMIM:619868
Periventricular Heterotopia With Microcephaly, Autosomal Recessive	Periventricular nodular heterotopia, Periventricular heterotopia, Hypoplasia of the corpus callos...	OMIM:608097
Hemophagocytic Syndrome Associated With An Infection	Elevated circulating hepatic transaminase concentration, Hemophagocytosis, Increased circulating ...	ORPHA:158048
Cortical Dysplasia, Complex, With Other Brain Malformations 7	Cerebellar vermis hypoplasia, Polymicrogyria, Hypoplasia of the brainstem, Hypoplasia of the corp...	OMIM:610031
Sodium-Dependent Multivitamin Transporter Deficiency	Decreased circulating IgG level, Cerebellar atrophy, Hypoplasia of the pons, Cerebral atrophy, Po...	OMIM:618973
Polymicrogyria Due To Tubb2B Mutation	Abnormal corpus callosum morphology, Cerebellar atrophy, Hypoplasia of the pons, Dysgenesis of th...	ORPHA:300573
Chudley-Mccullough Syndrome	Polymicrogyria, Cerebellar dysplasia, Hypoplasia of the corpus callosum, Cerebellar hypoplasia, D...	OMIM:604213
Neurodevelopmental Disorder With Cerebellar Hypoplasia And Spasticity	Cerebellar hypoplasia, Microcephaly, Periventricular nodular heterotopia	OMIM:618572
Sub-Cortical Nodular Heterotopia	Abnormal cerebral cortex morphology, Polymicrogyria, Abnormal basal ganglia morphology, Hypoplasi...	ORPHA:101029
Periventricular Nodular Heterotopia 8	Cerebellar vermis atrophy, Periventricular nodular heterotopia, Reduced cerebral white matter volume	OMIM:618185
Cortical Dysplasia, Complex, With Other Brain Malformations 1	Hypoplasia of the brainstem, Hypoplasia of the corpus callosum, Agenesis of corpus callosum, Micr...	OMIM:614039
Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome	Polymicrogyria, Agenesis of corpus callosum, Cerebellar hypoplasia, Primary microcephaly, Recurre...	ORPHA:171703
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10	Type II lissencephaly, Cerebellar dysplasia	OMIM:615041
Lissencephaly 5	Leukoencephalopathy, Cerebellar vermis hypoplasia, Hypoplasia of the brainstem, Type II lissencep...	OMIM:615191
Niemann-Pick Disease, Type B	Abnormal macular morphology, Sea-blue histiocytosis, Increased LDL cholesterol concentration, Hyp...	OMIM:607616
Cortical Dysplasia, Complex, With Other Brain Malformations 6	Cerebellar vermis hypoplasia, Focal polymicrogyria, Dysgenesis of the basal ganglia, Hypoplasia o...	OMIM:615771
Hemophagocytic Lymphohistiocytosis, Familial, 4	Hemophagocytosis, Increased circulating ferritin concentration, Splenomegaly, Anemia, Lymphadenop...	OMIM:603552
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement	Hypoplasia of the brainstem, Type II lissencephaly, Dysgyria, Cerebellar hypoplasia, Abnormal cer...	ORPHA:352682
Hemophagocytic Lymphohistiocytosis, Familial, 1	Hypoalbuminemia, Hemophagocytosis, Increased circulating ferritin concentration, Increased total ...	OMIM:267700
Hypermethioninemia With S-Adenosylhomocysteine Hydrolase Deficiency	Hypoalbuminemia, Hypermethioninemia, Increased circulating creatine kinase MM isoform, Elevated c...	OMIM:613752
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures	Abnormal corpus callosum morphology, Abnormality of neuronal migration, Microcephaly, Macrocephal...	OMIM:618709
Multiple Myeloma	Elevated circulating creatinine concentration, Splenomegaly, Lymphadenopathy, Anemia, Hyperprotei...	ORPHA:29073
Gaisböck Syndrome	Increased red blood cell count, Increased mean corpuscular hemoglobin concentration, Increased he...	ORPHA:90041
Omenn Syndrome	Splenomegaly, Hypoplasia of the thymus, Eosinophilia, Hepatomegaly, Anemia, Lymphadenopathy, Thro...	OMIM:603554
Leptospirosis	Hepatitis, Macular cotton wool spot, Chorioretinitis, Retinal hemorrhage, Elevated serum transami...	ORPHA:509
Hemophagocytic Lymphohistiocytosis, Familial, 2	Hypoalbuminemia, Elevated circulating hepatic transaminase concentration, Hemophagocytosis, Incre...	OMIM:603553
Diarrhea 13	Hypoalbuminemia, Elevated circulating hepatic transaminase concentration, Hepatic steatosis	OMIM:620357
Hepatoportal Sclerosis	Hypoalbuminemia, Nodular regenerative hyperplasia of liver, Periportal fibrosis, Abnormality of t...	ORPHA:64743
Malaria	Hyperbilirubinemia, Retinopathy, Anemia, Thrombocytopenia, Elevated circulating C-reactive protei...	ORPHA:673
Sea-Blue Histiocyte Disease	Sea-blue histiocytosis, Elevated circulating aspartate aminotransferase concentration, Splenomega...	OMIM:269600
Lymphoproliferative Syndrome, X-Linked, 1	Hypoalbuminemia, Abnormal T cell count, Hepatic failure, Aplastic anemia, Hemophagocytosis, Pancy...	OMIM:308240
Erythroleukemia, Familial, Susceptibility To	Erythroid hyperplasia, Splenomegaly, Hepatomegaly, Anemia, Acute myeloid leukemia, Thrombocytopen...	OMIM:133180
Leishmaniasis	Hypoalbuminemia, Elevated circulating hepatic transaminase concentration, Pancytopenia, Leukopeni...	ORPHA:507
Lissencephaly, X-Linked, 1	Agenesis of corpus callosum, Pachygyria, Agyria, Gray matter heterotopia, Lissencephaly	OMIM:300067
Immunodeficiency 27A	Hypoalbuminemia, Hepatosplenomegaly, Leukocytosis, Splenomegaly, Lymphadenopathy, Thrombocytosis,...	OMIM:209950
Refractory Celiac Disease	Hypoalbuminemia, Normocytic anemia, Elevated circulating hepatic transaminase concentration, Hypo...	ORPHA:398063
Immunodeficiency 115 With Autoinflammation	Hypoalbuminemia, Elevated haptoglobin level, Intestinal lymphangiectasia, Abnormal circulating cr...	OMIM:620632
Lissencephaly 2	Hypoplasia of the pons, Cerebellar hypoplasia, Microcephaly, Thick cerebral cortex, Lissencephaly...	OMIM:257320
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome	Splenomegaly, Abnormal hemoglobin, Thrombocytopenia, Anemia, Abnormal platelet function	ORPHA:231393
Tubulinopathy-Associated Dysgyria	Abnormal corpus callosum morphology, Cerebellar vermis hypoplasia, Abnormality of the internal ca...	ORPHA:467166
Bilateral Striopallidodentate Calcinosis	Hepatomegaly, Abnormality of the liver, Thrombocytopenia	ORPHA:1980
Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations	Polymicrogyria, Hypoplasia of the corpus callosum, Abnormality of neuronal migration, Microcephal...	OMIM:604317
Isolated Lissencephaly Type 1 Without Known Genetic Defects	Pachygyria, Agyria, Gray matter heterotopia	ORPHA:1084
Immunodeficiency 32B	Hypoalbuminemia, Impaired oxidative burst, Splenomegaly, Anemia, Eosinophilia, Monocytopenia, Thr...	OMIM:226990
Aplasia Cutis Congenita With Intestinal Lymphangiectasia	Lymphopenia, Hypoproteinemia, Intestinal lymphangiectasia	OMIM:207731
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome	Lymphopenia, Hypoproteinemia, Chorioretinal coloboma	ORPHA:1116
Lymphangiectasia, Intestinal	Neonatal hypoproteinemia, Lymphopenia, Intestinal lymphangiectasia	OMIM:152800
Macrophage Activation Syndrome	Hypoalbuminemia, Hemophagocytosis, Hepatitis, Increased circulating ferritin concentration, Decre...	ORPHA:158061
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy	Hypoalbuminemia, Intestinal lymphangiectasia, Anemia, Iron deficiency anemia, Thrombocytosis, Hep...	OMIM:226300
Nodular Neuronal Heterotopia	Abnormality of neuronal migration	ORPHA:2149
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease	Hemophagocytosis, Increased circulating ferritin concentration, Hepatosplenomegaly, Splenomegaly,...	OMIM:613101
Gaucher Disease, Atypical, Due To Saposin C Deficiency	Hypocholesterolemia, Hypersplenism, Splenomegaly, Anemia, Thrombocytopenia, Hepatomegaly	OMIM:610539
Pyruvate Dehydrogenase E3-Binding Protein Deficiency	Abnormal corpus callosum morphology, Cerebral atrophy, Periventricular cysts, Abnormal brainstem ...	ORPHA:255182
Pulmonary Fibrosis-Hepatic Hyperplasia-Bone Marrow Hypoplasia Syndrome	Bone marrow hypocellularity, Abnormality of the hepatic vasculature, Nodular regenerative hyperpl...	ORPHA:210136
Autoinflammation With Infantile Enterocolitis	Hypoalbuminemia, Reduced natural killer cell count, Increased circulating ferritin concentration,...	OMIM:616050
Nephrotic Syndrome, Type 7	Hypoalbuminemia, Hemolytic anemia, Thrombocytopenia	OMIM:615008
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)	Hypoalbuminemia, Depletion of mitochondrial DNA in liver, Increased total bilirubin, Cholestasis,...	OMIM:618528
Bilateral Frontoparietal Polymicrogyria	Cerebellar vermis hypoplasia, Hypoplasia of the pons, Hypoplasia of the brainstem, Cerebellar dys...	ORPHA:101070
Immune Thrombocytopenia	Thrombocytopenia	OMIM:188030
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2	Cerebellar atrophy, Hypoplasia of the pons, Cerebral atrophy, Periventricular heterotopia, Cerebe...	OMIM:616171
Alg6-Cdg	Hypoalbuminemia, Abnormality of the liver, Retinal degeneration, Decreased LDL cholesterol concen...	ORPHA:79320
Triokinase And Fmn Cyclase Deficiency Syndrome	Hypoalbuminemia, Microcytic anemia, Hepatic steatosis, Pancreatitis, Elevated circulating alanine...	OMIM:618805
Maternal Hyperthermia-Induced Birth Defects	Abnormality of neuronal migration, Microcephaly	ORPHA:2216
Fetal Cytomegalovirus Syndrome	Optic atrophy, Elevated circulating hepatic transaminase concentration, Hepatitis, Retinal hemorr...	ORPHA:294
Mega-Corpus-Callosum Syndrome With Cerebellar Hypoplasia And Cortical Malformations	Cerebellar vermis hypoplasia, Hypoplasia of the brainstem, Periventricular heterotopia, Cerebella...	OMIM:618273
Neutropenia, Severe Congenital, 5, Autosomal Recessive	Extramedullary hematopoiesis, Leukopenia, Splenomegaly, Anemia, Thrombocytopenia, Neutropenia, He...	OMIM:615285
Dengue Fever	Hepatomegaly, Leukopenia, Hypoproteinemia, Thrombocytopenia	ORPHA:99828
Refractory Anemia With Excess Blasts	Abnormal mean corpuscular volume, Bone marrow hypocellularity, Leukocytosis, Anemia of inadequate...	ORPHA:86839
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5	Hypoplasia of the pons, Hypoplasia of the brainstem, Type II lissencephaly, Cerebellar dysplasia,...	OMIM:613153
Citrullinemia Type Ii	Hypoalbuminemia, Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Decre...	ORPHA:247585
Joubert Syndrome 30	Cerebellar atrophy, Polymicrogyria, Agenesis of corpus callosum, Molar tooth sign on MRI, Gray ma...	OMIM:617622
Preeclampsia/Eclampsia 1	Elevated circulating hepatic transaminase concentration, Thrombocytopenia	OMIM:189800
Immunodeficiency 43	Hypoalbuminemia, Reduced natural killer cell count, Decreased circulating beta-2-microglobulin le...	OMIM:241600
Primary Intestinal Lymphangiectasia	Hypoalbuminemia, Peritoneal effusion, Hypomagnesemia, Intestinal lymphangiectasia, Lymphopenia, H...	ORPHA:90362
Symmetrical Thalamic Calcifications	Abnormality of neuronal migration, Microcephaly, Cerebral calcification	ORPHA:1314
Bleeding Disorder, Platelet-Type, 9	Thrombocytopenia	OMIM:614200
Lymphoproliferative Syndrome 1	Hemophagocytosis, Increased circulating ferritin concentration, Pancytopenia, Leukopenia, Decreas...	OMIM:613011
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency	Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Lymphadenitis, Cholest...	OMIM:615895
Cholesteryl Ester Storage Disease	Hepatic bridging fibrosis, Acute hepatic failure, Increased LDL cholesterol concentration, Hepato...	OMIM:278000
Congenital Disorder Of Glycosylation, Type Iik	Elevated circulating aspartate aminotransferase concentration, Elevated circulating creatine kina...	OMIM:614727
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11	Leukoencephalopathy, Hypoplasia of the pons, Polymicrogyria, Type II lissencephaly, Hypoplasia of...	OMIM:615181
Rajab Interstitial Lung Disease With Brain Calcifications 2	Hypoalbuminemia, Elevated circulating hepatic transaminase concentration, Microcytic anemia, Hepa...	OMIM:619013
Retinitis Pigmentosa And Erythrocytic Microcytosis	Decreased circulating iron concentration, Macular edema, Peripheral retinal atrophy, Leukopenia, ...	OMIM:616959
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)	Hypoalbuminemia, Depletion of mitochondrial DNA in liver, Periportal fibrosis, Hepatic failure, E...	OMIM:251880
3-Hydroxyisobutyric Aciduria	Abnormality of neuronal migration, Congenital intracerebral calcification, Microcephaly	OMIM:236795
Acquired Idiopathic Sideroblastic Anemia	Normocytic anemia, Bone marrow hypocellularity, Megaloblastic erythroid hyperplasia, Hypochromic ...	ORPHA:75564
Septopreoptic Holoprosencephaly	Abnormal corpus callosum morphology, Abnormal midbrain morphology, Hypoplasia of the pons, Abnorm...	ORPHA:280195
Transaldolase Deficiency	Hepatosplenomegaly, Abnormal circulating glutamine concentration, Increased serum bile acid conce...	ORPHA:101028
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease	Reduced natural killer cell count, Hepatic failure, Elevated circulating hepatic transaminase con...	ORPHA:158057
Lissencephaly 6 With Microcephaly	Cerebellar atrophy, Polymicrogyria, Periventricular heterotopia, Hypoplasia of the corpus callosu...	OMIM:616212
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-	Optic atrophy, Hyperammonemia, Splenomegaly, Anemia, Pancreatitis, Neutropenia, Thrombocytopenia,...	ORPHA:79312
Periventricular Nodular Heterotopia 1	Hypoplasia of the corpus callosum, Cerebellar hypoplasia, Abnormality of neuronal migration, Gray...	OMIM:300049
Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome	Amegakaryocytic thrombocytopenia	ORPHA:71289
Congenital Muscular Dystrophy With Cerebellar Involvement	Diffuse white matter abnormalities, Hypoplasia of the pons, Polymicrogyria, Type II lissencephaly...	ORPHA:370959
Aicardi-Goutieres Syndrome 3	Hepatosplenomegaly, Elevated circulating hepatic transaminase concentration, Thrombocytopenia	OMIM:610329
Beta-Thalassemia	Cholelithiasis, Hepatitis, Microcytic anemia, Abnormal hemoglobin, Splenomegaly, Anemia, Thromboc...	ORPHA:848
Enterokinase Deficiency	Hypoproteinemia	OMIM:226200
Thrombocytopenia 7	Reduced platelet alpha granules, Impaired arachidonic acid-induced platelet aggregation, Reduced ...	OMIM:619130
Gómez-López-Hernández Syndrome	Cerebellar vermis hypoplasia, Abnormal cerebellum morphology, Abnormal brainstem morphology	ORPHA:1532
Gray Platelet Syndrome	Abnormality of thrombocytes, Splenomegaly, Thrombocytopenia	ORPHA:721
Congenital Toxoplasmosis	Elevated circulating hepatic transaminase concentration, Abnormality of retinal pigmentation, Ane...	ORPHA:858
Osteopetrosis, Autosomal Recessive 8	Optic atrophy, Splenomegaly, Anemia, Thrombocytopenia, Hepatomegaly	OMIM:615085
Sea-Blue Histiocytosis	Sea-blue histiocytosis, Splenomegaly, Retinopathy, Thrombocytopenia, Hepatomegaly, Mediastinal ly...	ORPHA:158029
Immunodeficiency 114, Folate-Responsive	Increased circulating ferritin concentration, Lymphopenia, Splenomegaly, Megaloblastic anemia, Th...	OMIM:620603
Developmental And Epileptic Encephalopathy 5	Cerebral cortical atrophy, Reduced cerebral white matter volume, Cerebellar atrophy, Cerebral atr...	OMIM:613477
Familial Hemophagocytic Lymphohistiocytosis	Hypoalbuminemia, Cholestatic liver disease, Elevated circulating hepatic transaminase concentrati...	ORPHA:540
Aicardi-Goutieres Syndrome 6	Hepatomegaly, Hemolytic anemia, Splenomegaly, Thrombocytopenia	OMIM:615010
Pontocerebellar Hypoplasia Type 10	Abnormal brainstem morphology, Abnormal cerebral cortex morphology, Simplified gyral pattern	ORPHA:411493
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 6	Hypoplasia of the brainstem, Abnormal periventricular white matter morphology, Cerebellar hypopla...	OMIM:608840
Amegakaryocytic Thrombocytopenia, Congenital, 2	Bone marrow hypocellularity, Aplastic anemia, Pancytopenia, Neutropenia, Thrombocytopenia, Anemia...	OMIM:620481
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0	Optic atrophy, Hyperammonemia, Anemia, Pancreatitis, Neutropenia, Thrombocytopenia, Hepatomegaly	ORPHA:289916
Amegakaryocytic Thrombocytopenia, Congenital, 1	Pancytopenia, Thrombocytopenia, Amegakaryocytic thrombocytopenia	OMIM:604498
Lissencephaly Due To Tuba1A Mutation	Cerebellar vermis hypoplasia, Optic nerve hypoplasia, Dysgenesis of the basal ganglia, Polymicrog...	ORPHA:171680
Osteopetrosis, Autosomal Recessive 4	Optic atrophy, Splenomegaly, Reticulocytosis, Anemia, Thrombocytopenia, Hepatomegaly, Optic disc ...	OMIM:611490
Beemer Lethal Malformation Syndrome	Thrombocytopenia	OMIM:209970
Nephrotic Syndrome, Type 2	Hypoalbuminemia, Hyperlipidemia	OMIM:600995
Focal Segmental Glomerulosclerosis 1	Hypoalbuminemia, Anemia, Hyperlipidemia	OMIM:603278
Vitamin B12-Unresponsive Methylmalonic Acidemia	Optic atrophy, Leukopenia, Hyperammonemia, Macrocytic anemia, Anemia, Pancreatitis, Thrombocytope...	ORPHA:27
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly	Hepatic failure, Pancreatic lymphangiectasis, Hypocalcemia, Splenomegaly, Thyroid lymphangiectasi...	OMIM:235255
Aicardi-Goutieres Syndrome 4	Elevated circulating hepatic transaminase concentration, Hepatosplenomegaly, Pancytopenia, Spleno...	OMIM:610333
Mpi-Cdg	Hypoalbuminemia, Hepatic fibrosis, Decreased liver function, Portal hypertension, Hepatomegaly	ORPHA:79319
Chédiak-Higashi Syndrome	Hemophagocytosis, Hepatosplenomegaly, Pancytopenia, Neutropenia, Jaundice, Hypoproteinemia, Lymph...	ORPHA:167
Alpha-Thalassemia-Myelodysplastic Syndrome	Acute leukemia, HbH hemoglobin, Microcytic anemia, Splenomegaly, Neutropenia, Thrombocytopenia	ORPHA:231401
Congenital Disorder Of Glycosylation, Type Ih	Hypoalbuminemia, Decreased liver function, Cholestasis, Elevated circulating creatinine concentra...	OMIM:608104
Nephrotic Syndrome, Type 15	Hypoalbuminemia	OMIM:617609
Poretti-Boltshauser Syndrome	Cerebellar vermis hypoplasia, Cerebellar dysplasia, Dilated fourth ventricle, Abnormal periventri...	OMIM:615960
Congenital Muscular Dystrophy Without Intellectual Disability	Cerebellar atrophy, Microcephaly, Abnormal cerebral white matter morphology, Pachygyria, Cerebell...	ORPHA:370980
Gastritis, Familial Giant Hypertrophic	Hypoproteinemia	OMIM:137280
Band Heterotopia	Polymicrogyria, Agenesis of corpus callosum, Macrocephaly, Gray matter heterotopia, Subcortical b...	OMIM:600348
Ménétrier Disease	Hypoalbuminemia, Hypoproteinemia, Hypochromic microcytic anemia	ORPHA:2494
Mismatch Repair Cancer Syndrome 4	Gray matter heterotopia, Agenesis of corpus callosum	OMIM:619101
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension	Thrombocytopenia	OMIM:166990
Thrombocytopenia With Beta-Thalassemia, X-Linked	Increased RBC distribution width, Reduced platelet alpha granules, Reticulocytosis, Splenomegaly,...	OMIM:314050
Portal Hypertension, Noncirrhotic, 2	Nodular regenerative hyperplasia of liver, Elevated circulating hepatic transaminase concentratio...	OMIM:619463
Autosomal Recessive Primary Microcephaly	Hypoplasia of the frontal lobes, Agenesis of corpus callosum, Microcephaly, Pachygyria, Gray matt...	ORPHA:2512
Primary Membranoproliferative Glomerulonephritis	Hypoalbuminemia, Drusen	ORPHA:54370
Muscle-Eye-Brain Disease With Bilateral Multicystic Leucodystrophy	Cerebellar vermis hypoplasia, Polymicrogyria, Abnormal brainstem morphology, Hypoplasia of the co...	ORPHA:370997
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency	Cholestasis, Increased LDL cholesterol concentration, Hyperbilirubinemia, Hyperthreoninemia, Hepa...	ORPHA:247598
Diarrhea 7, Protein-Losing Enteropathy Type	Hypoalbuminemia, Hyperlipidemia, Hypercholesterolemia	OMIM:615863
Lissencephaly 9 With Complex Brainstem Malformation	Cerebellar vermis hypoplasia, Hypoplastic anterior commissure, Hypoplasia of the pons, Hypoplasia...	OMIM:618325
Congenital Disorder Of Glycosylation, Type Ib	Hypoalbuminemia, Hepatic fibrosis, Hepatic failure, Cirrhosis, Lymphangiectasis, Hepatomegaly	OMIM:602579
Lissencephaly Syndrome, Norman-Roberts Type	Cerebellar atrophy, Cerebral calcification, Hypoplasia of the corpus callosum, Agenesis of corpus...	ORPHA:89844
Hydrops, Lactic Acidosis, And Sideroblastic Anemia	Hypoalbuminemia, Increased mean corpuscular volume, Extramedullary hematopoiesis, Decreased liver...	OMIM:617021
Pancreatic insufficiency, combined exocrine	Exocrine pancreatic insufficiency, Hypoproteinemia	OMIM:260450
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy	Hypoproteinemia	OMIM:221400
Congenital Amegakaryocytic Thrombocytopenia	Anemia, Abnormal hemoglobin, Thrombocytopenia	ORPHA:3319
Ataxia-Intellectual Disability-Oculomotor Apraxia-Cerebellar Cysts Syndrome	Inferior cerebellar vermis hypoplasia, Cerebellar dysplasia, Dilated fourth ventricle, Abnormal b...	ORPHA:370022
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy	Reduced natural killer cell count, Increased circulating ferritin concentration, Hypoplasia of th...	OMIM:619313
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome	Hepatic failure, Pancreatic lymphangiectasis, Hepatosplenomegaly, Hypocalcemia, Splenomegaly, Pul...	ORPHA:1655
Liver Failure, Infantile, Transient	Hypoalbuminemia, Elevated circulating hepatic transaminase concentration, Acute hepatic failure, ...	OMIM:613070
Congenital Disorder Of Glycosylation, Type Ij	Jaundice, Elevated circulating hepatic transaminase concentration, Hypoproteinemia	OMIM:608093
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1	Cerebellar vermis hypoplasia, Focal cortical dysplasia, Hypoplasia of the brainstem, Cerebellar d...	OMIM:613155
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency	Hypoalbuminemia, Hepatic failure, Elevated circulating hepatic transaminase concentration, Decrea...	ORPHA:367
Erythroderma, Lethal Congenital	Hypoalbuminemia	OMIM:227090
Nephrotic Syndrome, Type 1	Hypoalbuminemia, Hyperlipidemia, Hypoproteinemia	OMIM:256300
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome	Hypoalbuminemia	ORPHA:88643
Diffuse Neonatal Hemangiomatosis	Hepatomegaly, Anemia, Hypercalcemia, Thrombocytopenia	ORPHA:2123
Ravine Syndrome	Abnormal brainstem morphology, Abnormal basal ganglia morphology, Atrophy/Degeneration affecting ...	ORPHA:99852
Congenital Enterovirus Infection	Hypoalbuminemia, Hepatic failure, Hepatitis, Cholestasis, Leukopenia, Leukocytosis, Hyperammonemi...	ORPHA:292
Coenzyme Q10 Deficiency, Primary, 3	Hypoalbuminemia	OMIM:614652
Immunodeficiency 97 With Autoinflammation	Decreased proportion of CD4+CD25+ regulatory T cells, Reduced natural killer cell count, Hemophag...	OMIM:619802
Analbuminemia	Hypoalbuminemia, Increased LDL cholesterol concentration, Hypercholesterolemia, Elevated circulat...	OMIM:616000
Babesiosis	Hepatic failure, Leukopenia, Splenomegaly, Thrombocytopenia, Hepatomegaly, Jaundice, Hemolytic an...	ORPHA:108
Pyruvate Dehydrogenase E1-Beta Deficiency	Corticospinal tract hypoplasia, Hypoplasia of the brainstem, Periventricular cysts, Periventricul...	ORPHA:255138
Bleeding Disorder, Platelet-Type, 16	Platelet anisocytosis, Giant platelets, Thrombocytopenia, Impaired platelet aggregation, Anemia, ...	OMIM:187800
Sitosterolemia 1	Stomatocytosis, Giant platelets, Hyperapobetalipoproteinemia, Reticulocytosis, Reduced haptoglobi...	OMIM:210250
Infantile Spasms-Psychomotor Retardation-Progressive Brain Atrophy-Basal Ganglia Disease Syndrome	Small basal ganglia, Abnormal basal ganglia morphology, Abnormal brainstem MRI signal intensity	ORPHA:263410
Neurodevelopmental Disorder With Spasticity, Hypomyelinating Leukodystrophy, And Brain Abnormalities	Cerebellar hypoplasia, Cerebellar vermis hypoplasia, Cerebellar dysplasia, Perisylvian polymicrog...	OMIM:616531
Wolcott-Rallison Syndrome	Hypoalbuminemia, Elevated circulating hepatic transaminase concentration, Exocrine pancreatic ins...	ORPHA:1667
Focal Segmental Glomerulosclerosis 6	Hypoalbuminemia	OMIM:614131
Very Long Chain Acyl-Coa Dehydrogenase Deficiency	Increased circulating free fatty acid level, Elevated circulating hepatic transaminase concentrat...	ORPHA:26793
Nephrotic Syndrome, Type 9	Hypoalbuminemia	OMIM:615573
Fanconi Anemia, Complementation Group V	Bone marrow hypocellularity, Thrombocytopenia, Neutropenia, Anemia, Elevated circulating alpha-fe...	OMIM:617243
Hemimegalencephaly	Focal cortical dysplasia, Polymicrogyria, Hemimegalencephaly, Hyperintensity of cerebral white ma...	ORPHA:99802
Spinocerebellar Ataxia With Axonal Neuropathy Type 1	Hypoalbuminemia, Hypercholesterolemia	ORPHA:94124
Stormorken Syndrome	Howell-Jolly bodies, Elevated circulating creatine kinase concentration, Thrombocytopenia, Anemia...	OMIM:185070
Immunodeficiency 91 And Hyperinflammation	Elevated circulating hepatic transaminase concentration, Hemophagocytosis, Acute hepatic failure,...	OMIM:619644
Polycythemia Vera	Increased hematocrit, Leukocytosis, Splenomegaly, Increased red blood cell mass, Increased circul...	OMIM:263300
Tafro Syndrome	Hepatosplenomegaly, Leukocytosis, Splenomegaly, Hepatomegaly, Anemia, Lymphadenopathy, Thrombocyt...	ORPHA:457077
Deafness-Lymphedema-Leukemia Syndrome	Bone marrow hypocellularity, Acute leukemia, Abnormal optic nerve morphology, Leukocytosis, Splen...	ORPHA:3226
Gaucher Disease Type 1	Elevated circulating CCL18 level, Splenic infarction, Cholelithiasis, Hepatic failure, Increased ...	ORPHA:77259
Intellectual Developmental Disorder, Autosomal Dominant 48	Cerebellar vermis hypoplasia, Recurrent pneumonia, Dysgenesis of the cerebellar vermis, Polymicro...	OMIM:617751
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1	Hypoalbuminemia, Hypercholesterolemia	OMIM:607250
Primary Myelofibrosis	Extramedullary hematopoiesis, Hepatosplenomegaly, Pancytopenia, Leukocytosis, Portal hypertension...	ORPHA:824
Gaucher Disease, Type Iii	Hepatomegaly, Pancytopenia, Splenomegaly, Thrombocytopenia	OMIM:231000
Developmental And Epileptic Encephalopathy 99	Frontotemporal cerebral atrophy, Cerebellar atrophy, Microcephaly, Atrophy/Degeneration affecting...	OMIM:619606
Rhabdoid Tumor	Neoplasm of the liver, Lymphadenopathy, Thrombocytopenia, Anemia, Hypercalcemia	ORPHA:69077
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive	Hypoalbuminemia, Elevated circulating hepatic transaminase concentration, Increased serum bile ac...	OMIM:242150
Eosinophilia, Familial	Anemia, Eosinophilia, Leukocytosis, Thrombocytopenia	OMIM:131400
Griscelli Syndrome	Bone marrow hypocellularity, Hepatitis, Abnormal circulating lipid concentration, Leukopenia, Spl...	ORPHA:381
Johanson-Blizzard Syndrome	Anemia, Exocrine pancreatic insufficiency, Hypoproteinemia, Abnormality of the pancreas	ORPHA:2315
Vici Syndrome	Cerebral cortical atrophy, Decreased circulating IgG level, Hypoplasia of the pons, Recurrent res...	ORPHA:1493
Microphthalmia-Brain Atrophy Syndrome	Cerebellar vermis atrophy, Diffuse cerebral atrophy, Microcephaly, Corpus callosum atrophy, Atrop...	ORPHA:77299
Cog4-Cdg	Elevated circulating hepatic transaminase concentration, Hepatosplenomegaly, Fatal liver failure ...	ORPHA:263501
Mucopolysaccharidosis-Plus Syndrome	Hypoalbuminemia, Bone marrow hypocellularity, Chorioretinal hypopigmentation, Optic atrophy, Leuk...	OMIM:617303
Refractory Anemia	Normocytic anemia, Bone marrow hypocellularity, Anemia of inadequate production, Macrocytic anemi...	ORPHA:98826
Bleeding Disorder, Platelet-Type, 24	Platelet anisocytosis, Impaired arachidonic acid-induced platelet aggregation, Impaired epinephri...	OMIM:619271
Congenital Rubella Syndrome	Splenomegaly, Abnormality of retinal pigmentation, Anemia, Thrombocytopenia, Hepatomegaly, Jaundice	ORPHA:290
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2	Bone marrow hypocellularity, Increased mean corpuscular volume, Pancytopenia, Acute myeloid leuke...	OMIM:619041
S-Adenosylhomocysteine Hydrolase Deficiency	Hypoalbuminemia, Hypermethioninemia, Elevated circulating hepatic transaminase concentration, Abn...	ORPHA:88618
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy	Hypoalbuminemia, Intrahepatic cholestasis, Hepatic fibrosis, Decreased liver function, Elevated c...	OMIM:617093
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2	Hepatosplenomegaly, Congenital thrombocytopenia, Neutropenia, Thrombocytopenia, Anemia	OMIM:616738
Avian Influenza	Hypoalbuminemia, Elevated circulating hepatic transaminase concentration, Hepatitis, Lymphopenia,...	ORPHA:454836
Autoimmune Lymphoproliferative Syndrome, Type Iia	Chronic noninfectious lymphadenopathy, Follicular hyperplasia, Autoimmune hemolytic anemia, Splen...	OMIM:603909
Nephrotic Syndrome, Type 22	Hypoproteinemia	OMIM:619155
Bleeding Disorder, Platelet-Type, 19	Anemia, Macrothrombocytopenia, Thrombocytopenia	OMIM:616176
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type	Abnormality of neuronal migration, Microcephaly	ORPHA:2204
Dehydrated Hereditary Stomatocytosis 2	Increased mean corpuscular volume, Increased mean corpuscular hemoglobin concentration, Hyperbili...	OMIM:616689
Brain Small Vessel Disease 2	Subcortical heterotopia, Schizencephaly, Porencephalic cyst, Polymicrogyria	OMIM:614483
Congenital Disorder Of Glycosylation, Type Il	Hypoalbuminemia, Hypocholesterolemia, Splenomegaly, Hepatomegaly	OMIM:608776
Mevalonic Aciduria	Elevated circulating hepatic transaminase concentration, Fluctuating splenomegaly, Hepatosplenome...	OMIM:610377
Pontocerebellar Hypoplasia, Type 15	Anemia, Chronic neutropenia, Thrombocytopenia	OMIM:619302
Non-Involuting Congenital Hemangioma	Hepatic hemangioma, Thrombocytopenia	ORPHA:141179
Congenital Analbuminemia	Hypoalbuminemia, Hyperlipidemia, Hypercholesterolemia, Hypoproteinemia, Increased alpha-globulin	ORPHA:86816
Chronic Myeloid Leukemia	Abnormal granulocyte morphology, Leukocytosis, Splenomegaly, Abnormal basophil morphology, Thromb...	ORPHA:521
Congenital Disorder Of Glycosylation, Type Iii	Microcephaly, Atrophy/Degeneration affecting the brainstem, Cerebellar atrophy, Cerebral atrophy	OMIM:613612
Bone Marrow Failure Syndrome 2	Anemia, Bone marrow hypocellularity, Leukopenia, Thrombocytopenia	OMIM:615715
Deafness, Autosomal Dominant 1, With Or Without Thrombocytopenia	Macrothrombocytopenia, Thrombocytopenia, Impaired platelet aggregation	OMIM:124900
Hemangioma-Thrombocytopenia Syndrome	Thrombocytopenia, Hyperkalemia, Microangiopathic hemolytic anemia	OMIM:141000
Relapsing Fever	Elevated circulating hepatic transaminase concentration, Increased total bilirubin, Elevated circ...	ORPHA:91547
Congenital Disorder Of Glycosylation, Type Iil	Optic atrophy, Elevated circulating hepatic transaminase concentration, Cholestasis, Pancytopenia...	OMIM:614576
Caroli Syndrome	Intrahepatic cholestasis, Hepatic failure, Elevated circulating hepatic transaminase concentratio...	ORPHA:480520
Acalvaria	Abnormality of neuronal migration, Aplasia/Hypoplasia of the cerebellum	ORPHA:945
Chylomicron Retention Disease	Hypoalbuminemia, Hypocholesterolemia, Decreased LDL cholesterol concentration, Hypotriglyceridemia	OMIM:246700
Bleeding Disorder, Platelet-Type, 22	Impaired arachidonic acid-induced platelet aggregation, Impaired ADP-induced platelet aggregation...	OMIM:618462
Joubert Syndrome 32	Macrocephaly, Abnormal cerebellum morphology, Molar tooth sign on MRI, Polymicrogyria	OMIM:617757
Platelet Signal Processing Defect	Impaired collagen-induced platelet aggregation, Impaired ADP-induced platelet aggregation, Thromb...	OMIM:173590
Wilson Disease	Elevated circulating hepatic transaminase concentration, Hepatitis, Acute hepatic failure, Acute ...	ORPHA:905
Acute Myelomonocytic Leukemia	Anemia, Eosinophilia, Leukocytosis, Thrombocytopenia	ORPHA:517
Systemic Lupus Erythematosus 17	Lymphopenia, Leukopenia, Optic neuritis, Thrombocytopenia, Autoimmune thrombocytopenia	OMIM:301080
Joubert Syndrome 25	Cerebellar hypoplasia, Molar tooth sign on MRI	OMIM:616781
Congenital Lethal Erythroderma	Hypoalbuminemia	ORPHA:1954
Aicardi-Goutieres Syndrome 9	Hypoalbuminemia, Hepatic fibrosis, Acute pancreatitis, Elevated circulating hepatic transaminase ...	OMIM:619487
Thrombocytopenia 9	Abnormal platelet aggregation, Thrombocytopenia	OMIM:620478
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome	Abnormality of neuronal migration, Microcephaly, Aplasia/Hypoplasia of the cerebellum	ORPHA:2772
Neonatal Lupus Erythematosus	Hepatic failure, Elevated circulating hepatic transaminase concentration, Aplastic anemia, Pancyt...	ORPHA:398124
Gaucher Disease, Type I	Pancytopenia, Hypersplenism, Splenomegaly, Anemia, Thrombocytopenia, Macular atrophy, Hepatomegaly	OMIM:230800
Forsythe-Wakeling Syndrome	Thrombocytopenia	OMIM:613606
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7	Subcortical heterotopia, Polymicrogyria, Type II lissencephaly, Hypoplasia of the brainstem, Hypo...	OMIM:614643
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss	Giant platelets, Leukocyte inclusion bodies, Impaired ADP-induced platelet aggregation, Thrombocy...	OMIM:155100
Eosinophilic Gastroenteritis	Hypoalbuminemia, Leukocytosis, Eosinophilia, Anemia, Elevated circulating C-reactive protein conc...	ORPHA:2070
Alg1-Cdg	Hypoalbuminemia, Decreased liver function	ORPHA:79327
Fanconi Anemia, Complementation Group G	Leukemia, Anemia, Neutropenia, Thrombocytopenia	OMIM:614082
Pontocerebellar Hypoplasia, Type 14	Chronic neutropenia, Thrombocytopenia	OMIM:619301
Rapidly Involuting Congenital Hemangioma	Hepatic hemangioma, Thrombocytopenia	ORPHA:141184
Neutropenia, Severe Congenital, 10, Autosomal Recessive	Anemia, Thrombocytopenia, Neutropenia, Monocytosis	OMIM:620534
Thrombocytopenia, Anemia, And Myelofibrosis	Anemia, Splenomegaly, Thrombocytopenia, Anisopoikilocytosis	OMIM:617441
Congenital Enterocyte Heparan Sulfate Deficiency	Hypoalbuminemia, Abnormal circulating protein concentration, Abnormal circulating polysaccharide ...	ORPHA:103910
Fetal Gaucher Disease	Abnormality of the spleen, Pancytopenia, Splenomegaly, Thrombocytopenia, Hepatomegaly	ORPHA:85212
Intellectual Developmental Disorder, X-Linked 12	Cerebellar vermis hypoplasia, Abnormal cerebellum morphology, Abnormality of neuronal migration, ...	OMIM:300957
Fibronectin Glomerulopathy	Hypoalbuminemia	ORPHA:84090
Galloway-Mowat Syndrome 8	Hypoalbuminemia	OMIM:618349
Bleeding Disorder, Platelet-Type, 15	Platelet anisocytosis, Impaired clot retraction, Impaired ADP-induced platelet aggregation, Throm...	OMIM:615193
Gamma-Heavy Chain Disease	Abnormal lymphocyte morphology, Splenomegaly, Autoimmune hemolytic anemia, Anemia, Lymphadenopath...	ORPHA:100026
Combined Oxidative Phosphorylation Deficiency 37	Hypoalbuminemia, Optic atrophy, Elevated circulating hepatic transaminase concentration, Decrease...	OMIM:618329
Thrombotic Thrombocytopenic Purpura	Decreased serum creatinine, Thrombocytopenia, Reticulocytosis, Microangiopathic hemolytic anemia	ORPHA:54057
Primary Biliary Cholangitis	Hypoalbuminemia, Hepatic fibrosis, Hepatic failure, Biliary cirrhosis, Hepatitis, Abnormal circul...	ORPHA:186
Immunodeficiency 98 With Autoinflammation, X-Linked	Bone marrow hypocellularity, Hemophagocytosis, Agranulocytosis, Autoimmune hemolytic anemia, Sple...	OMIM:301078
Leber Congenital Amaurosis	Abnormality of neuronal migration, Aplasia/Hypoplasia of the cerebellar vermis	ORPHA:65
Transaldolase Deficiency	Hepatic fibrosis, Micronodular cirrhosis, Decreased liver function, Hepatosplenomegaly, Pancytope...	OMIM:606003
Ataxia-Pancytopenia Syndrome	Acute myelomonocytic leukemia, Pancytopenia, Thrombocytopenia, Neutropenia, Anemia, Hypoplastic a...	OMIM:159550
Atypical Hemolytic Uremic Syndrome	Thrombocytopenia, Microangiopathic hemolytic anemia	ORPHA:2134
Abetalipoproteinemia	Hypoalbuminemia, Hepatic fibrosis, Hypotriglyceridemia, Elevated circulating hepatic transaminase...	ORPHA:14
Immunodeficiency 47	Hepatic bridging fibrosis, Hepatic fibrosis, Accessory spleen, Normocytic anemia, Elevated circul...	OMIM:300972
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 8	Nodular regenerative hyperplasia of liver, Hepatic failure, Increased mean corpuscular volume, Po...	OMIM:620367
Fetal Parvovirus Syndrome	Anemia, Thrombocytopenia	ORPHA:295
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome	Abnormal CD4:CD8 ratio, Splenomegaly, Lymphadenopathy, Neutropenia, B lymphocytopenia, Intermitte...	OMIM:150550
Thiamine-Responsive Megaloblastic Anemia Syndrome	Optic atrophy, Sideroblastic anemia, Thiamine-responsive megaloblastic anemia, Cone/cone-rod dyst...	OMIM:249270
Hypomelanosis Of Ito	Gray matter heterotopia, Microcephaly, Cerebral atrophy, Macrocephaly	OMIM:300337
Aggressive Systemic Mastocytosis	Decreased liver function, Hepatosplenomegaly, Pancytopenia, Hypersplenism, Leukocytosis, Increase...	ORPHA:98850
Trichohepatoenteric Syndrome 1	Hypoalbuminemia, Hypermethioninemia, Increased circulating iron concentration, Hepatic fibrosis, ...	OMIM:222470
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)	Hypoalbuminemia, Hypermethioninemia, Hepatic failure, Elevated circulating hepatic transaminase c...	OMIM:617156
3-Methylglutaconic Aciduria Type 4	Decreased liver function, Thrombocytopenia	ORPHA:67048
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom	Recurrent pneumonia, Polymicrogyria, Recurrent otitis media, Hypoplasia of the brainstem, Cerebel...	ORPHA:500159
Proteasome-Associated Autoinflammatory Syndrome 2	Decreased proportion of memory B cells, Lymphadenopathy, Thrombocytopenia, B lymphocytopenia, Ele...	OMIM:618048
Chronic Bilirubin Encephalopathy	Hypoalbuminemia, Neonatal hyperbilirubinemia, Prolonged neonatal jaundice, Hemolytic anemia, Hype...	ORPHA:529808
Acute Bilirubin Encephalopathy	Hypoalbuminemia, Neonatal hyperbilirubinemia, Prolonged neonatal jaundice, Hemolytic anemia, Hype...	ORPHA:529799
Platelet Glycoprotein Iv Deficiency	Giant platelets, Thrombocytopenia	OMIM:608404
Autosomal Recessive Chorioretinopathy-Microcephaly Syndrome	Cerebral cortical atrophy, Abnormality of neuronal migration, Microcephaly, Aplasia/Hypoplasia of...	ORPHA:2518
Liver Disease, Severe Congenital	Portal inflammation, Hyperbilirubinemia, Hepatic steatosis, Abnormal hepatic echogenicity, Hepato...	OMIM:619991
Roch-Leri Mesosomatous Lipomatosis	Thrombocytopenia	ORPHA:529
Wolfram Syndrome, Mitochondrial Form	Optic atrophy, Sideroblastic anemia, Megaloblastic anemia, Neutropenia, Thrombocytopenia	OMIM:598500
Hermansky-Pudlak Syndrome 9	Hypopigmentation of the fundus, Ocular albinism, Leukopenia, Abnormal platelet aggregation, Throm...	OMIM:614171
Walker-Warburg Syndrome	Abnormal cortical gyration, Polymicrogyria, Absent septum pellucidum, Agenesis of corpus callosum...	ORPHA:899
Cernunnos-Xlf Deficiency	Lymphopenia, Thrombocytopenia, B lymphocytopenia, Anemia, T lymphocytopenia	ORPHA:169079
Idiopathic Steroid-Resistant Nephrotic Syndrome	Hypoalbuminemia, Abnormal circulating lipid concentration, Peritonitis, Hypercholesterolemia, Hyp...	ORPHA:567548
Primary Sclerosing Cholangitis	Hypoalbuminemia, Hepatic fibrosis, Cholelithiasis, Elevated circulating hepatic transaminase conc...	ORPHA:171
Folate Malabsorption, Hereditary	Leukopenia, Folate-responsive megaloblastic anemia, Thrombocytopenia, Neutropenia	OMIM:229050
Propionic Acidemia	Pancytopenia, Hyperglycinemia, Hyperammonemia, Anemia, Pancreatitis, Neutropenia, Thrombocytopeni...	OMIM:606054
Osteopetrosis, Autosomal Recessive 1	Optic atrophy, Pancytopenia, Splenomegaly, Hypocalcemia, Anemia, Thrombocytopenia, Hepatomegaly	OMIM:259700
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1	Acute myeloid leukemia, Increased mean corpuscular volume, Thrombocytopenia	OMIM:252270
Nephrotic Syndrome, Type 3	Hypoalbuminemia	OMIM:610725
Thiamine-Responsive Megaloblastic Anemia Syndrome	Optic atrophy, Megaloblastic anemia, Thrombocytopenia, Retinal dystrophy	ORPHA:49827
Drug-Induced Lupus Erythematosus	Elevated circulating creatine kinase concentration, Anemia, Increased blood urea nitrogen, Thromb...	ORPHA:231111
Anemia, Sideroblastic, 5	Reduced hematocrit, Hypochromic microcytic anemia, Thrombocytopenia, Anemia, Neutropenia	OMIM:619523
Galloway-Mowat Syndrome 6	Hypoalbuminemia	OMIM:618347
Von Willebrand Disease, Platelet-Type	Intermittent thrombocytopenia	OMIM:177820
Fanconi Anemia, Complementation Group T	Bone marrow hypocellularity, Pancytopenia, Acute myeloid leukemia, Thrombocytopenia, Anemia	OMIM:616435
Transcobalamin Deficiency	Lymphopenia, Pancytopenia, Thrombocytopenia, Neutropenia	ORPHA:859
Mitochondrial Complex Iii Deficiency, Nuclear Type 10	Cholelithiasis, Elevated circulating creatine kinase concentration, Papilledema, Thrombocytopenia...	OMIM:618775
Dk Phocomelia Syndrome	Thrombocytopenia	OMIM:223340
Generalized Pustular Psoriasis	Hypoalbuminemia, Elevated circulating hepatic transaminase concentration, Lymphopenia, Leukocytos...	ORPHA:247353
Thrombocytopenia 4	Abnormal platelet volume, Thrombocytopenia	OMIM:612004
Genetic Steroid-Resistant Nephrotic Syndrome	Hypoalbuminemia, Peritonitis	ORPHA:656
Nephrotic Syndrome, Type 6	Hypoalbuminemia	OMIM:614196
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia	Hypoalbuminemia, Hypercholesterolemia, Elevated circulating creatine kinase concentration	OMIM:208920
Bleeding Disorder, Platelet-Type, 25	Impaired ADP-induced platelet aggregation, Thrombocytopenia, Macrothrombocytopenia, Impaired coll...	OMIM:620486
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency	Increased mean corpuscular volume, Pancytopenia, Megaloblastic anemia, Thrombocytopenia, Hepatome...	OMIM:613839
Proteasome-Associated Autoinflammatory Syndrome 3	Elevated circulating hepatic transaminase concentration, Lymphopenia, Splenomegaly, Anemia, Lymph...	OMIM:617591
Isolated Agammaglobulinemia	Abnormal lymphocyte morphology, Abnormality of the lymphatic system, Abnormality of the tonsils, ...	ORPHA:229717
Wiskott-Aldrich Syndrome 2	Decreased proportion of CD8-positive T cells, Thrombocytopenia	OMIM:614493
Diaph1-Related Sensorineural Hearing Loss-Thrombocytopenia Syndrome	Thrombocytopenia, Iron deficiency anemia, Neutropenia, Increased mean platelet volume	ORPHA:494444
Amoebiasis Due To Entamoeba Histolytica	Hypoalbuminemia, Elevated circulating hepatic transaminase concentration, Leukocytosis, Anemia, L...	ORPHA:67
Giant platelet syndrome with thrombocytopenia	Giant platelets, Thrombocytopenia	OMIM:137560
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Hypoalbuminemia, Elevated circulating hepatic transaminase concentration, Hepatitis, Hypomagnesem...	ORPHA:37042
X-Linked Agammaglobulinemia	Hepatitis, Hypocalcemia, Abnormality of the lymphatic system, Abnormality of the tonsils, Neutrop...	ORPHA:47
Wilson Disease	Hypouricemia, Acute hepatic failure, Hyperbilirubinemia, Hepatic steatosis, Cirrhosis, Elevated c...	OMIM:277900
Subependymal Nodular Heterotopia	Focal cortical dysplasia, Polymicrogyria, Abnormality of neuronal migration, Gray matter heteroto...	ORPHA:101030
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency	Leukopenia, Hyperglycinemia, Hyperammonemia, Pancreatitis, Neutropenia, Thrombocytopenia, Hepatom...	OMIM:251000
Preeclampsia	Elevated circulating creatinine concentration, Abnormality of the hepatic vasculature, Elevated c...	ORPHA:275555
Acyl-Coa Dehydrogenase 9 Deficiency	Elevated circulating acylcarnitine concentration, Decreased circulating carnitine concentration, ...	ORPHA:99901
Methylmalonic Aciduria, Cblb Type	Elevated circulating propionylcarnitine concentration, Pancytopenia, Hyperglycinemia, Elevated ci...	OMIM:251110
Cerebral Palsy, Spastic Quadriplegic, 3	Gray matter heterotopia, Microcephaly	OMIM:617008
X-Linked Cerebral-Cerebellar-Coloboma Syndrome	Cerebellar vermis hypoplasia, Abnormal cerebral cortex morphology, Abnormal brainstem morphology,...	ORPHA:163961
Acquired Purpura Fulminans	Elevated circulating C-reactive protein concentration, Hepatic failure, Thrombocytopenia	ORPHA:49566
Bernard-Soulier Syndrome	Impaired ristocetin-induced platelet aggregation, Macrothrombocytopenia, Giant platelets, Thrombo...	OMIM:231200
Castleman Disease	Follicular hyperplasia, Anemia, Generalized lymphadenopathy, Lymphadenopathy, Thrombocytopenia, E...	ORPHA:160
Idiopathic Aplastic Anemia	Bone marrow hypocellularity, Pancytopenia, Retinal hemorrhage, Reticulocytopenia, Neutropenia, Th...	ORPHA:88
Lennox-Gastaut Syndrome	Abnormal brainstem morphology	ORPHA:2382
Dyskeratosis Congenita, Autosomal Recessive 2	Bone marrow hypocellularity, Pancytopenia, Cirrhosis, Thrombocytopenia	OMIM:613987
20Q11.2 Microdeletion Syndrome	Brainstem dysplasia	ORPHA:444051
Chediak-Higashi Syndrome	Hemophagocytosis, Ocular albinism, Leukopenia, Giant neutrophil granules, Splenomegaly, Macular h...	OMIM:214500
Congenital Disorder Of Glycosylation, Type Ia	Hypoalbuminemia, Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Hypoc...	OMIM:212065
Prolidase Deficiency	Elevated circulating aspartate aminotransferase concentration, Splenomegaly, Prolonged neonatal j...	OMIM:170100
Tetrasomy 18P	Abnormality of neuronal migration, Microcephaly	ORPHA:3307
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency	Abnormal T cell count, Elevated circulating hepatic transaminase concentration, Lymphadenitis, Ly...	ORPHA:331206
Zika Virus Disease	Retinal pigment epithelial mottling, Optic disc hypoplasia, Chorioretinal atrophy, Abnormal optic...	ORPHA:448237
Bleeding Disorder, Platelet-Type, 20	Thrombocytopenia	OMIM:616913
Von Willebrand Disease, Type 2	Thrombocytopenia	OMIM:613554
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked	Hepatitis, Decreased FOXP3-expressing T cell count, Eosinophilia, Coombs-positive hemolytic anemi...	OMIM:304790
Pseudo-Torch Syndrome 3	Lymphadenitis, Increased circulating ferritin concentration, Leukocytosis, Congenital thrombocyto...	OMIM:618886
Tularemia	Cervical lymphadenopathy, Abnormal nasopharyngeal adenoid morphology, Leukocytosis, Lymphadenopat...	ORPHA:3392
Moyamoya Disease With Early-Onset Achalasia	Abnormal platelet aggregation, Thrombocytopenia	ORPHA:401945
Thrombocytopenia 5	Increased mean corpuscular volume, B Acute Lymphoblastic Leukemia, Neutropenia, Thrombocytopenia,...	OMIM:616216
Bone Marrow Failure Syndrome 4	Anemia, Bone marrow hypocellularity, Leukopenia, Thrombocytopenia	OMIM:618116
Immunodeficiency With Hyper-Igm, Type 1	Absence of lymph node germinal center, Hepatitis, Chronic hepatitis, Splenomegaly, Sclerosing cho...	OMIM:308230
Neurocutaneous Melanocytosis	Chiari malformation, Infectious encephalitis, Abnormality of neuronal migration, Aplasia/Hypoplas...	ORPHA:2481
Oculocerebrocutaneous Syndrome	Gray matter heterotopia, Dandy-Walker malformation, Hypoplasia of the corpus callosum, Agenesis o...	OMIM:164180
Pearson Syndrome	Pancytopenia, Hepatic steatosis, Hypophosphatemia, Neutropenia, Hepatomegaly, Hypoplastic spleen,...	ORPHA:699
Alkuraya-Kucinskas Syndrome	Hypoplasia of the brainstem, Aplasia/Hypoplasia of the corpus callosum, Cerebellar dysplasia, Cer...	OMIM:617822
Thrombotic Thrombocytopenic Purpura, Hereditary	Microangiopathic hemolytic anemia, Elevated circulating creatinine concentration, Reticulocytosis...	OMIM:274150
Osteopetrosis, Autosomal Recessive 2	Optic atrophy, Extramedullary hematopoiesis, Hepatosplenomegaly, Pancytopenia, Thrombocytopenia, ...	OMIM:259710
Ataxia-Oculomotor Apraxia 4	Hypoalbuminemia, Hypercholesterolemia, Elevated circulating alpha-fetoprotein concentration	OMIM:616267
Gray Platelet Syndrome	Abnormal number of alpha granules, Impaired thrombin-induced platelet aggregation, Splenomegaly, ...	OMIM:139090
Osteopetrosis, Autosomal Recessive 5	Optic atrophy, Hepatic failure, Extramedullary hematopoiesis, Pancytopenia, Hepatosplenomegaly, H...	OMIM:259720
Reni Syndrome	Hypoalbuminemia, Lymphopenia, Hypertriglyceridemia	OMIM:617575
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development	Abnormality of the anterior commissure, Midline brainstem cleft, Hypoplasia of the pons, Agenesis...	OMIM:617542
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome	Hypomagnesemia, Pancytopenia, Leukopenia, Hyperuricemia, Hyponatremia, Increased blood urea nitro...	OMIM:613845
Developmental Delay With Variable Neurologic And Brain Abnormalities	Gray matter heterotopia, Microcephaly, Thin corpus callosum	OMIM:619694
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant	Stomatocytosis, Impaired ADP-induced platelet aggregation, Splenomegaly, Impaired collagen-relate...	OMIM:153670
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome	Decreased proportion of memory B cells, Elevated circulating hepatic transaminase concentration, ...	ORPHA:79124
Al Amyloidosis	Hypoalbuminemia, Howell-Jolly bodies, Abnormality of the liver, Anemia, Increased circulating NT-...	ORPHA:85443
Bacterial Toxic-Shock Syndrome	Hypoalbuminemia, Hepatitis, Elevated circulating creatinine concentration, Hypocalcemia, Elevated...	ORPHA:36234
Gracile Bone Dysplasia	Asplenia, Hypoplastic spleen, Hypocalcemia	OMIM:602361
Arthrogryposis, Renal Dysfunction, And Cholestasis 1	Cholestatic liver disease, Giant cell hepatitis, Elevated circulating hepatic transaminase concen...	OMIM:208085
Phosphoglycerate Dehydrogenase Deficiency	Megaloblastic anemia, Thrombocytopenia	OMIM:601815
Boutonneuse Fever	Elevated circulating hepatic transaminase concentration, Cervical lymphadenopathy, Leukopenia, Ly...	ORPHA:83313
Mirage Syndrome	Lymphopenia, Leukopenia, Hyponatremia, Thrombocytopenia, Anemia, Hyperkalemia, Hypoplastic spleen	OMIM:617053
Pierson Syndrome	Retinal vascular tortuosity, Hypopigmentation of the fundus, Macular hypoplasia, Retinal detachme...	OMIM:609049
Alg8-Cdg	Optic atrophy, Elevated circulating hepatic transaminase concentration, Retinopathy, Hyponatremia...	ORPHA:79325
Felty Syndrome	Bone marrow hypocellularity, Abnormal lymphocyte morphology, Splenomegaly, Anemia, Lymphadenopath...	ORPHA:47612
Hemolytic Uremic Syndrome, Atypical, 8, With Rhizomelic Short Stature	Elevated circulating creatinine concentration, Lymphopenia, Leukopenia, Reduced haptoglobin level...	OMIM:301110
Spinocerebellar Ataxia With Axonal Neuropathy Type 2	Hypoalbuminemia, Elevated circulating creatine kinase concentration, Hypercholesterolemia, Elevat...	ORPHA:64753
Immunodeficiency 46	Anemia, Neutropenia, Intermittent thrombocytopenia	OMIM:616740
Methylmalonic Aciduria And Homocystinuria, Cblj Type	Elevated circulating propionylcarnitine concentration, Hypomethioninemia, Hyperhomocystinemia, Ne...	OMIM:614857
Glutathionuria	Gray matter heterotopia, Agenesis of corpus callosum	OMIM:231950
Methylmalonic Aciduria, Cbla Type	Pancytopenia, Hyperglycinemia, Hyperammonemia, Anemia, Neutropenia, Thrombocytopenia, Hepatomegal...	OMIM:251100
Pseudo-Torch Syndrome 1	Elevated circulating hepatic transaminase concentration, Decreased liver function, Splenomegaly, ...	OMIM:251290
Myh9-Related Disease	Elevated circulating hepatic transaminase concentration, Giant platelets, Congenital thrombocytop...	ORPHA:182050
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities	Abnormal reticulocyte morphology, Bone marrow hypocellularity, Impaired platelet aggregation, Mac...	OMIM:300835
Alpha-N-Acetylgalactosaminidase Deficiency Type 1	Abnormal brainstem morphology, Aplasia/Hypoplasia of the cerebellum	ORPHA:79279
Combined Immunodeficiency Due To Crac Channel Dysfunction	Splenomegaly, Lymphadenopathy, Thrombocytopenia, Hepatomegaly, Hemolytic anemia	ORPHA:169090
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Hypoalbuminemia, Bone marrow hypocellularity, Optic atrophy, Hepatosplenomegaly, Leukopenia, Abno...	ORPHA:505248
Slc35A1-Cdg	Thrombocytopenia, Neutropenia, Giant platelets, Abnormal platelet granules	ORPHA:238459
Periventricular Nodular Heterotopia 7	Polymicrogyria, Periventricular nodular heterotopia, Hypoplasia of the corpus callosum, Gray matt...	OMIM:617201
Immunodeficiency 40	Elevated circulating aspartate aminotransferase concentration, Elevated circulating alanine amino...	OMIM:616433
Spinocerebellar Ataxia Type 1	Loss of Purkinje cells in the cerebellar vermis, Abnormal brainstem morphology, Cerebellar atroph...	ORPHA:98755
Chronic Visceral Acid Sphingomyelinase Deficiency	Cholelithiasis, Hepatic failure, Abnormal circulating lipid concentration, Decreased liver functi...	ORPHA:77293
Cyclic Neutropenia	Recurrent tonsillitis, Cervical lymphadenopathy, Lymphopenia, Cyclic neutropenia, Peritonitis, Ly...	ORPHA:2686
Noonan Syndrome 12	Lymphopenia, Thrombocytopenia	OMIM:618624
Stuve-Wiedemann Syndrome 2	Thrombocytopenia	OMIM:619751
Letterer-Siwe Disease	Hepatosplenomegaly, Neutropenia, Thrombocytopenia, Anemia, Jaundice	OMIM:246400
Amed Syndrome, Digenic	Bone marrow hypocellularity, Leukopenia, Acute myeloid leukemia, Thrombocytopenia, Anemia	OMIM:619151
Methylmalonic Aciduria And Homocystinuria, Cblf Type	Cystathioninemia, Elevated circulating propionylcarnitine concentration, Pancytopenia, Anemia, Me...	OMIM:277380
Isovaleric Acidemia	Bone marrow hypocellularity, Pancytopenia, Leukopenia, Thrombocytopenia	OMIM:243500
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3	Microangiopathic hemolytic anemia, Elevated circulating creatinine concentration, Increased blood...	OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2	Microangiopathic hemolytic anemia, Elevated circulating creatinine concentration, Increased blood...	OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6	Microangiopathic hemolytic anemia, Elevated circulating creatinine concentration, Increased blood...	OMIM:612926
Autoinflammatory Syndrome, Familial, Behcet-Like 1	Lymphopenia, Hemolytic anemia, Thrombocytopenia	OMIM:616744
Sepsis In Premature Infants	Decreased liver function, Leukocytosis, Splenomegaly, Hepatomegaly, Anemia, Neutropenia, Thromboc...	ORPHA:90051
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4	Microangiopathic hemolytic anemia, Elevated circulating creatinine concentration, Increased blood...	OMIM:612924
Systemic Mastocytosis With Associated Hematologic Neoplasm	Normocytic anemia, Chronic myelomonocytic leukemia, Leukocytosis, Splenomegaly, Chronic lymphatic...	ORPHA:98849
Nephrotic Syndrome, Type 8	Hypoalbuminemia	OMIM:615244
Joubert Syndrome With Oculorenal Defect	Cerebellar vermis hypoplasia, Aplasia/Hypoplasia of the corpus callosum, Abnormality of neuronal ...	ORPHA:2318
Thrombocytopenia With Congenital Dyserythropoietic Anemia	Hypochromic anemia, Anemia of inadequate production, Anisocytosis, Poikilocytosis, Macrothrombocy...	ORPHA:67044
Thrombocytopenia With Elevated Serum Iga And Renal Disease	Thrombocytopenia	OMIM:314000
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked	Elevated circulating hepatic transaminase concentration, Leukopenia, Elevated circulating creatin...	OMIM:301056
Nephrotic Syndrome, Type 11	Hypoalbuminemia, Hypercholesterolemia	OMIM:616730
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis	Hyponatremia, Leukocytosis, Thrombocytopenia	ORPHA:83601
Thyrocerebrorenal Syndrome	Thrombocytopenia	ORPHA:3327
Lysinuric Protein Intolerance	Intraalveolar phospholipid accumulation, Hemophagocytosis, Increased circulating ferritin concent...	OMIM:222700
Pearson Marrow-Pancreas Syndrome	Hypoplastic anemia, Hepatic failure, Elevated circulating hepatic transaminase concentration, Exo...	OMIM:557000
Hermansky-Pudlak Syndrome 2	Reduced natural killer cell count, Enlarged platelet dense granules, Ocular albinism, Hepatosplen...	OMIM:608233
Overlap Myositis	Elevated circulating hepatic transaminase concentration, Abnormal circulating lipid concentration...	ORPHA:206572
Early-Onset Progressive Leukoencephalopathy-Central Nervous System Calcification-Deafness-Visual Impairment Syndrome	Thrombocytopenia, Hypochromic microcytic anemia, Increased circulating ferritin concentration	ORPHA:3240
Pseudo-Torch Syndrome 2	Polymicrogyria, Cerebral calcification, Cerebellar hypoplasia, Microcephaly, Gray matter heterotopia	OMIM:617397
Combined Oxidative Phosphorylation Deficiency 14	Increased hepatic glycogen content, Copper accumulation in liver, Thrombocytopenia, Elevated hepa...	OMIM:614946
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5	Microangiopathic hemolytic anemia, Elevated circulating creatinine concentration, Increased blood...	OMIM:612925
Stt3B-Cdg	Optic atrophy, Thrombocytopenia	ORPHA:370924
Aregenerative Anemia	Bone marrow hypocellularity, Pancytopenia, Decreased proportion of CD4-positive helper T cells, A...	ORPHA:101096
Lysinuric Protein Intolerance	Hemophagocytosis, Increased LDL cholesterol concentration, Hepatosplenomegaly, Hyperglycinemia, C...	ORPHA:470
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure	Hypoalbuminemia, Thrombocytopenia, Normochromic anemia	OMIM:254900
Atelis Syndrome 1	Anemia, Leukopenia, Thrombocytopenia	OMIM:620184
Bleeding Disorder, Platelet-Type, 21	Impaired platelet aggregation, Impaired ADP-induced platelet aggregation, Thrombocytopenia, Incre...	OMIM:617443
Congenital Disorder Of Glycosylation, Type Iif	Macrothrombocytopenia, Thrombocytopenia, Decreased platelet glycoprotein Ib, Neutropenia	OMIM:603585
Alg12-Cdg	Hypoalbuminemia, Elevated circulating hepatic transaminase concentration, Hypocholesterolemia, Hy...	ORPHA:79324
Congenital Disorder Of Glycosylation, Type Ix	Optic atrophy, Thrombocytopenia	OMIM:615597
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1	Polymicrogyria, Type II lissencephaly, Hypoplasia of the brainstem, Cerebellar malformation, Cere...	OMIM:236670
Specific Granule Deficiency 2	Anemia, Absent neutrophil specific granules, Thrombocytopenia, Neutropenia	OMIM:617475
Neonatal Adrenoleukodystrophy	Abnormality of neuronal migration, Macrocephaly	ORPHA:44
Bone Marrow Failure Syndrome 3	Bone marrow hypocellularity, Retinal dysplasia, Aplastic anemia, Increased mean corpuscular volum...	OMIM:617052
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2	Hypoplasia of the brainstem, Type II lissencephaly, Cerebellar dysplasia, Agenesis of corpus call...	OMIM:613150
Xfe Progeroid Syndrome	Hypoalbuminemia, Optic atrophy, Elevated circulating hepatic transaminase concentration, Attenuat...	OMIM:610965
Crome Syndrome	Microcephaly, Cerebellar dysplasia	OMIM:218900
Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities	Leukoencephalopathy, Cerebellar vermis hypoplasia, Cerebral cortical atrophy, Cerebral calcificat...	OMIM:620024
Joubert Syndrome 7	Abnormal corpus callosum morphology, Brainstem dysplasia, Molar tooth sign on MRI, Hypoplasia of ...	OMIM:611560
Slc35A2-Cdg	Abnormal midbrain morphology, Cerebellar atrophy, Cerebral atrophy, Hypoplasia of the corpus call...	ORPHA:356961
Galloway-Mowat Syndrome	Pachygyria, Microcephaly, Aqueductal stenosis, Abnormality of neuronal migration	ORPHA:2065
Shwachman-Diamond Syndrome	Aplastic anemia, Pancytopenia, Increased serum bile acid concentration, Impaired neutrophil chemo...	ORPHA:811
Hardikar Syndrome	Portal inflammation, Cholestasis, Hepatosplenomegaly, Hyperbilirubinemia, Hypersplenism, Cirrhosi...	OMIM:301068
Macrothrombocytopenia, Isolated, 1, Autosomal Dominant	Macrothrombocytopenia, Impaired platelet aggregation	OMIM:613112
Immunodeficiency, Common Variable, 8, With Autoimmunity	Pancytopenia, Autoimmune hemolytic anemia, Splenomegaly, Generalized lymphadenopathy, Decreased p...	OMIM:614700
Farber Disease	Hepatic fibrosis, Hepatic failure, Elevated circulating hepatic transaminase concentration, Macul...	ORPHA:333
Diffuse Alveolar Hemorrhage	Anemia, Elevated circulating creatinine concentration, Leukocytosis, Thrombocytopenia	ORPHA:90060
Holoprosencephaly 14	Cerebellar atrophy, Macrocephaly, Periventricular heterotopia, Absent septum pellucidum, Microcep...	OMIM:619895
Kaposiform Lymphangiomatosis	Hepatosplenomegaly, Lymphangioma, Abnormal lymphatic vessel morphology, Abnormality of the lympha...	ORPHA:464329
Autoinflammatory Disease, Systemic, With Vasculitis	Hepatic fibrosis, Cholestasis, Elevated circulating aspartate aminotransferase concentration, Hep...	OMIM:620376
Thrombocytopenia 2	Abnormal platelet shape, Abnormal platelet volume, Leukocytosis, Thrombocytopenia	OMIM:188000
47,Xyy Syndrome	Cerebellar dysplasia, Abnormal brainstem morphology, Dysgenesis of the cerebellar vermis, Macroce...	ORPHA:8
Insulin-Resistance Syndrome Type B	Hypoalbuminemia, Hypotriglyceridemia, Biliary cirrhosis, Abnormal circulating lipid concentration...	ORPHA:2298
Dyskeratosis Congenita, Autosomal Dominant 2	Bone marrow hypocellularity, Hepatic fibrosis, Aplastic anemia, Pancytopenia, Leukopenia, Neutrop...	OMIM:613989
Neu-Laxova Syndrome	Abnormal cortical gyration, Polymicrogyria, Cerebral calcification, Absent septum pellucidum, Cer...	ORPHA:2671
Joubert Syndrome 6	Cerebellar vermis hypoplasia, Hypoplasia of the brainstem, Dilated fourth ventricle, Elongated su...	OMIM:610688
Immunodeficiency 87 And Autoimmunity	Hepatic failure, Cholestasis, Lymphopenia, Decreased CD4:CD8 ratio, Cervical lymphadenopathy, Ele...	OMIM:619573
Pelger-Huet Anomaly	Giant platelets, Hyposegmentation of neutrophil nuclei, Thrombocytopenia, Neutropenia, Abnormalit...	OMIM:169400
Marburg Hemorrhagic Fever	Hypoalbuminemia, Neutrophilia in presence of infection, Elevated circulating hepatic transaminase...	ORPHA:99826
Autosomal Recessive Polycystic Kidney Disease	Hepatic fibrosis, Periportal fibrosis, Cholestasis, Hypersplenism, Hepatosplenomegaly, Portal hyp...	ORPHA:731
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1	Microangiopathic hemolytic anemia, Elevated circulating creatinine concentration, Hyperlipidemia,...	OMIM:235400
Thrombocytopenia, Paris-Trousseau Type	Thrombocytopenia	OMIM:188025
Rajab Interstitial Lung Disease With Brain Calcifications 1	Hypoalbuminemia, Elevated circulating hepatic transaminase concentration, Decreased liver functio...	OMIM:613658
Secondary Intestinal Lymphangiectasia	Hypoalbuminemia, Reduced circulating transferrin concentration, Hypocholesterolemia, Lymphopenia,...	ORPHA:90363
Tangier Disease	Hypocholesterolemia, Hepatosplenomegaly, Chronic noninfectious lymphadenopathy, Orange discolored...	ORPHA:31150
Blue Rubber Bleb Nevus	Abnormality of the liver, Iron deficiency anemia, Thrombocytopenia	OMIM:112200
Phoar2-Enteropathy Syndrome	Hypoalbuminemia	OMIM:614441
Aicardi-Goutieres Syndrome 5	Thrombocytopenia	OMIM:612952
Sengers Syndrome	Thrombocytopenia	OMIM:212350
Mitochondrial Complex I Deficiency, Nuclear Type 20	Hepatic failure, Elevated circulating hepatic transaminase concentration, Thrombocytopenia, Micro...	OMIM:611126
Pediatric-Onset Graves Disease	Elevated circulating hepatic transaminase concentration, Splenomegaly, Thrombocytopenia, Neutrope...	ORPHA:525731
Imerslund-Gräsbeck Syndrome	Anisopoikilocytosis, Hypersegmentation of neutrophil nuclei, Pancytopenia, Reticulocytosis, Macro...	ORPHA:35858
Acute Disseminated Encephalomyelitis	Diffuse white matter abnormalities, Post-vaccination measles, Herpes simplex encephalitis, Severe...	ORPHA:83597
Ghosal Hematodiaphyseal Dysplasia	Bone marrow hypocellularity, Leukopenia, Refractory anemia, Thrombocytopenia	OMIM:231095
Osteopetrosis With Renal Tubular Acidosis	Bone marrow hypocellularity, Optic atrophy, Pancytopenia, Leukopenia, Hypocalcemia, Elevated circ...	ORPHA:2785
Desmosterolosis	Abnormal cortical gyration, Polymicrogyria, Absent septum pellucidum, Agenesis of corpus callosum...	ORPHA:35107
Hennekam Lymphangiectasia-Lymphedema Syndrome 1	Hypoalbuminemia, Intestinal lymphangiectasia, Thyroid lymphangiectasia, Pulmonary lymphangiectasi...	OMIM:235510
Vexas Syndrome	Elevated circulating C-reactive protein concentration, Thrombocytopenia, Macrocytic anemia	OMIM:301054
Dyskeratosis Congenita, Autosomal Dominant 1	Bone marrow hypocellularity, Aplastic anemia, Increased mean corpuscular volume, Lymphopenia, Leu...	OMIM:127550
Holocarboxylase Synthetase Deficiency	Hyperammonemia, Thrombocytopenia	ORPHA:79242
Hermansky-Pudlak Syndrome 5	Ocular albinism, Impaired ADP-induced platelet aggregation, Hypoplasia of the fovea, Absent plate...	OMIM:614074
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures	Optic atrophy, Rod-cone dystrophy, Thrombocytopenia	OMIM:617710
Shigellosis	Hepatic failure, Microangiopathic hemolytic anemia, Cholestasis, Leukocytosis, Hyponatremia, Peri...	ORPHA:810
Moyamoya Disease 6 With Or Without Achalasia	Thrombocytopenia	OMIM:615750
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency	Cerebral hypoplasia, Optic nerve hypoplasia, Cerebellar atrophy, Hypoplasia of the pons, Cerebral...	ORPHA:468631
Juvenile Polyposis Syndrome	Hypoalbuminemia, Anemia, Hypokalemia	OMIM:174900
Wolfram Syndrome 1	Optic atrophy, Pigmentary retinopathy, Sideroblastic anemia, Megaloblastic anemia, Thrombocytopenia	OMIM:222300
Galloway-Mowat Syndrome 1	Cerebellar atrophy, Cerebral atrophy, Hypoplasia of the brainstem, Secondary microcephaly, Hypopl...	OMIM:251300
Aicardi-Goutieres Syndrome 1	Elevated circulating hepatic transaminase concentration, Splenomegaly, Hepatomegaly, Thrombocytop...	OMIM:225750
Porphyria, Congenital Erythropoietic	Cholelithiasis, Elevated circulating uroporphyrin concentration, Reduced erythrocyte uroporphyrin...	OMIM:263700
Gaucher Disease	Splenic infarction, Cholelithiasis, Hepatic failure, Hepatitis, Abnormal macular morphology, Incr...	ORPHA:355
Joubert Syndrome	Cerebellar vermis hypoplasia, Polymicrogyria, Aplasia/Hypoplasia of the corpus callosum, Abnormal...	ORPHA:475
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia	Decreased mean platelet volume, Cervical lymphadenopathy, Lymphocytosis, Lymphadenopathy, Thrombo...	OMIM:617718
Thyrocerebroretinal Syndrome	Thrombocytopenia	OMIM:274240
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form	Hypoalbuminemia, Decreased circulating iron concentration, Decreased circulating carnitine concen...	ORPHA:89842
Familial Acute Necrotizing Encephalopathy	Cerebral edema, Abnormal brainstem morphology, Abnormal brainstem MRI signal intensity, Abnormal ...	ORPHA:88619
Kikuchi-Fujimoto Disease	Elevated circulating hepatic transaminase concentration, Abnormal lymph node morphology, Cervical...	ORPHA:50918
Combined Oxidative Phosphorylation Deficiency 55	Hypomagnesemia, Hypophosphatemic rickets, Elevated circulating creatine kinase concentration, Hyp...	OMIM:619743
Immunodeficiency, Common Variable, 12, With Autoimmunity	Autoimmune hemolytic anemia, Thrombocytopenia	OMIM:616576
Tufted Angioma	Anemia, Thrombocytopenia	ORPHA:1063
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7	Anemia, Lymphopenia, Portal hypertension, Thrombocytopenia	OMIM:620365
Methylmalonic Acidemia With Homocystinuria, Type Cblc	Optic atrophy, Pigmentary retinopathy, Abnormality of macular pigmentation, Elevated circulating ...	ORPHA:79282
Schimke Immuno-Osseous Dysplasia	Bone marrow hypocellularity, Abnormal proportion of naive CD4 T cells, Lymphopenia, Hyperlipidemi...	ORPHA:1830
Q Fever	Elevated circulating hepatic transaminase concentration, Hepatitis, Hepatosplenomegaly, Abnormali...	ORPHA:781
Li-Ghorbani-Weisz-Hubshman Syndrome	Periventricular heterotopia, Hypoplasia of the corpus callosum	OMIM:618974
Systemic Lupus Erythematosus	Leukopenia, Hemolytic anemia, Thrombocytopenia	OMIM:152700
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies	Agenesis of corpus callosum, Microcephaly, Macrocephaly, Gray matter heterotopia, Lissencephaly, ...	OMIM:615219
Kawasaki Disease	Hypoalbuminemia, Hepatitis, Cervical lymphadenopathy, Leukocytosis, Cholecystitis, Thrombocytosis...	ORPHA:2331
Ciliary Dyskinesia, Primary, 53	Abdominal situs inversus, Hypoplastic spleen, Polysplenia	OMIM:620642
Chiari Malformation Type Ii	Gray matter heterotopia, Chiari malformation, Agenesis of corpus callosum	OMIM:207950
Thanatophoric Dysplasia Type 2	Abnormality of neuronal migration, Macrocephaly	ORPHA:93274
Snakebite Envenomation	Hyponatremia, Thrombocytopenia	ORPHA:449285
Bleeding Disorder, Platelet-Type, 17	Increased RBC distribution width, Absence of alpha granules, Thrombocytopenia, Macrothrombocytope...	OMIM:187900
Congenital Disorder Of Deglycosylation 2	Cerebellar vermis hypoplasia, Polymicrogyria, Macrocephaly, Gray matter heterotopia, Partial agen...	OMIM:619775
Immunodeficiency 82 With Systemic Inflammation	Hypoalbuminemia, Reduced natural killer cell count, Hepatitis, Decreased proportion of naive T ce...	OMIM:619381
Vici Syndrome	Cerebellar vermis hypoplasia, Decreased circulating IgG level, Recurrent viral infections, Cutane...	OMIM:242840
Shiga Toxin-Associated Hemolytic Uremic Syndrome	Microangiopathic hemolytic anemia, Elevated circulating creatinine concentration, Leukocytosis, R...	ORPHA:90038
Fragile X Syndrome	Periventricular heterotopia, Macrocephaly	OMIM:300624
Dyskeratosis Congenita, Autosomal Recessive 1	Bone marrow hypocellularity, Hepatic fibrosis, Aplastic anemia, Pancytopenia, Thrombocytopenia	OMIM:224230
3C Syndrome	Abnormality of neuronal migration, Aplasia/Hypoplasia of the cerebellum, Macrocephaly, Recurrent ...	ORPHA:7
Neutropenia, Severe Congenital, 4, Autosomal Recessive	Lymphopenia, Hepatosplenomegaly, Leukopenia, Splenomegaly, Erythroid hypoplasia, Hypoplasia of th...	OMIM:612541
Shwachman-Diamond Syndrome 1	Elevated circulating hepatic transaminase concentration, Persistence of hemoglobin F, Exocrine pa...	OMIM:260400
Acute Promyelocytic Leukemia	Leukopenia, Pancytopenia, Leukocytosis, Lymphadenopathy, Neutropenia, Thrombocytopenia, Anemia	ORPHA:520
Joubert Syndrome 2	Abnormal corpus callosum morphology, Dysgenesis of the cerebellar vermis, Hypoplasia of the brain...	OMIM:608091
Necrotizing Enterocolitis	Leukocytosis, Hyponatremia, Peritonitis, Thrombocytopenia, Neutropenia	ORPHA:391673
Brucellosis	Hypersplenism, Abnormality of the liver, Leukopenia, Leukocytosis, Splenomegaly, Chorioretinitis,...	ORPHA:1304
Carnitine Palmitoyltransferase Ii Deficiency	Cerebellar vermis hypoplasia, Polymicrogyria, Cerebral calcification, Abnormal basal ganglia morp...	ORPHA:157
Platelet Disorder, Undefined	Thrombocytopenia, Impaired platelet aggregation	OMIM:173420
Joubert Syndrome 1	Cerebellar vermis hypoplasia, Dysgenesis of the cerebellar vermis, Hypoplasia of the brainstem, B...	OMIM:213300
Neuroblastoma	Anemia, Lymphadenopathy, Thrombocytopenia, Increased circulating ferritin concentration	ORPHA:635
Braddock-Carey Syndrome 2	Thrombocytopenia	OMIM:619981
Neuroleptic Malignant Syndrome	Elevated circulating hepatic transaminase concentration, Hyperphosphatemia, Hypomagnesemia, Leuko...	ORPHA:94093
Leukoencephalopathy-Spondyloepimetaphyseal Dysplasia Syndrome	Cerebral atrophy, Abnormal brainstem MRI signal intensity, Hypoplasia of the corpus callosum, Leu...	ORPHA:83629
Neurodevelopmental Disorder With Hearing Loss, Seizures, And Brain Abnormalities	Thrombocytopenia	OMIM:616577
Thrombocytopenia, X-Linked, With Or Without Dyserythropoietic Anemia	Acanthocytosis, Congenital thrombocytopenia, Anemia of inadequate production, Poikilocytosis	OMIM:300367
Aicardi-Goutieres Syndrome 7	Hepatitis, Increased circulating ferritin concentration, Pancytopenia, Hepatic steatosis, Splenom...	OMIM:615846
Congenital Syphilis	Optic atrophy, Extramedullary hematopoiesis, Hepatosplenomegaly, Chorioretinitis, Prolonged neona...	ORPHA:499009
Rift Valley Fever	Macular edema, Elevated circulating hepatic transaminase concentration, Hepatitis, Retinal hemorr...	ORPHA:319251
Alg11-Cdg	Cerebral atrophy, Cerebral white matter atrophy, Microcephaly, Abnormal cerebral white matter mor...	ORPHA:280071
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13	Hypoplasia of the brainstem, Type II lissencephaly, Absent septum pellucidum, Agenesis of corpus ...	OMIM:615287
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome	Abnormality of the liver, Hyperbilirubinemia, Vitreous hemorrhage, Thrombocytopenia, Retinal hemo...	ORPHA:464321
Methylmalonic Aciduria And Homocystinuria, Cblc Type	Pigmentary retinopathy, Cystathioninemia, Hypomethioninemia, Megaloblastic anemia, Hyperhomocysti...	OMIM:277400
Neurodevelopmental Disorder With Hypotonia, Neonatal Respiratory Insufficiency, And Thermodysregulation	Cerebral atrophy, Recurrent viral infections, Gray matter heterotopia, Hypoplasia of the corpus c...	OMIM:618797
Gaucher Disease, Perinatal Lethal	Hepatic failure, Hepatosplenomegaly, Splenomegaly, Anemia, Thrombocytopenia, Hepatomegaly	OMIM:608013
Bohring-Opitz Syndrome	Hypoplasia of the brainstem, Hypoplasia of the corpus callosum, Agenesis of corpus callosum, Micr...	OMIM:605039
Methylmalonate Semialdehyde Dehydrogenase Deficiency	Microcephaly, Thin corpus callosum, Periventricular heterotopia, Hypoplasia of the corpus callosum	OMIM:614105
Edinburgh Malformation Syndrome	Abnormality of neuronal migration	ORPHA:1895
Ebola Hemorrhagic Fever	Hepatitis, Lymphopenia, Leukopenia, Thrombocytopenia, Acute pancreatitis	ORPHA:319218
Platelet Disorder, Familial, With Associated Myeloid Malignancy	Impaired collagen-induced platelet aggregation, Acute monocytic leukemia, Impaired arachidonic ac...	OMIM:601399
Good Syndrome	Thymoma, Aplasia/Hypoplasia of the thymus, Abnormal leukocyte morphology, Thrombocytopenia, Anemi...	ORPHA:169105
Dyskeratosis Congenita, Autosomal Dominant 3	Bone marrow hypocellularity, Aplastic anemia, Pancytopenia, Leukopenia, Macrocytic anemia, Exudat...	OMIM:613990
Thanatophoric Dysplasia	Gray matter heterotopia, Macrocephaly	ORPHA:2655
Gaucher Disease, Type Ii	Hepatomegaly, Anemia, Splenomegaly, Thrombocytopenia	OMIM:230900
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked	Thrombocytopenia, Increased mean platelet volume	OMIM:300048
Adams-Oliver Syndrome	Leukopenia, Portal hypertension, Congenital hepatic fibrosis, Cirrhosis, Thrombocytopenia	ORPHA:974
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis	Cerebral calcification, Periventricular heterotopia, Agenesis of corpus callosum, Cerebellar hypo...	OMIM:618476
Familial Cerebral Saccular Aneurysm	Abnormal brainstem morphology, Encephalomalacia	ORPHA:231160
Kasabach-Merritt Phenomenon	Microangiopathic hemolytic anemia, Leukopenia, Reticulocytosis, Abnormal lymphatic vessel morphol...	ORPHA:2330
Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency	Anemia, Bone marrow hypocellularity, Thrombocytopenia, Neutropenia	OMIM:614520
Adult Krabbe Disease	Abnormal corpus callosum morphology, Abnormal medulla oblongata morphology, Abnormal midbrain mor...	ORPHA:206448
Maternal Uniparental Disomy Of Chromosome 6	Rod-cone dystrophy, Thrombocytopenia	ORPHA:96181
Shwachman-Diamond Syndrome 2	Normocytic anemia, Exocrine pancreatic insufficiency, Hyperechogenic pancreas, Neutropenia, Throm...	OMIM:617941
Mitochondrial Complex Iv Deficiency, Nuclear Type 12	Hypoalbuminemia, Elevated circulating creatine kinase concentration	OMIM:619055
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form	Cerebellar vermis hypoplasia, Polymicrogyria, Intracerebral periventricular calcifications, Cereb...	ORPHA:228308
Juvenile Polyposis Syndrome	Hepatic arteriovenous malformation, Anemia, Extrahepatic portal hypertension, Hypoproteinemia, Ne...	ORPHA:2929
Mogs-Cdg	Hepatomegaly, Optic atrophy, Hepatosplenomegaly, Thrombocytopenia	ORPHA:79330
Diarrhea 10, Protein-Losing Enteropathy Type	Hypoalbuminemia, Hypomagnesemia, Hypocalcemia, Hyponatremia, Hypertriglyceridemia	OMIM:618183
Orofaciodigital Syndrome Type 6	Cerebellar vermis hypoplasia, Aplasia/Hypoplasia of the corpus callosum, Hypoplasia of olfactory ...	ORPHA:2754
Quebec Platelet Disorder	Thrombocytopenia, Impaired epinephrine-induced platelet aggregation	OMIM:601709
Lujo Hemorrhagic Fever	Elevated circulating hepatic transaminase concentration, Lymphopenia, Leukopenia, Leukocytosis, T...	ORPHA:319213
Ethylmalonic Encephalopathy	Abnormal basal ganglia MRI signal intensity, Abnormal brainstem MRI signal intensity	ORPHA:51188
Idiopathic Hypereosinophilic Syndrome	Portal fibrosis, Elevated circulating hepatic transaminase concentration, Cervical lymphadenopath...	ORPHA:3260
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige	Hypoalbuminemia, Hypernatremia	OMIM:615508
Joubert Syndrome With Hepatic Defect	Cerebellar vermis hypoplasia, Aplasia/Hypoplasia of the corpus callosum, Abnormality of neuronal ...	ORPHA:1454
Paroxysmal Nocturnal Hemoglobinuria	Decreased circulating iron concentration, Pancytopenia, Leukopenia, Erythroid hyperplasia, Reticu...	ORPHA:447
Coffin-Lowry Syndrome	Cerebral cortical atrophy, Aplasia/Hypoplasia of the corpus callosum, Abnormality of neuronal mig...	ORPHA:192
Congenital Erythropoietic Porphyria	Leukopenia, Erythroid hyperplasia, Abnormal circulating porphyrin concentration, Reticulocytosis,...	ORPHA:79277
Immune Thrombocytopenia	Thrombocytopenia	ORPHA:3002
Man1B1-Cdg	Cerebellar hypoplasia, Periventricular heterotopia	ORPHA:397941
Anemia, Sideroblastic, And Spinocerebellar Ataxia	Abnormal basal ganglia MRI signal intensity, Cerebellar atrophy, Abnormal brainstem morphology, C...	OMIM:301310
Orofaciodigital Syndrome Xvi	Gray matter heterotopia, Molar tooth sign on MRI	OMIM:617563
Cntnap2-Related Developmental And Epileptic Encephalopathy	Cerebellar vermis atrophy, Abnormality of neuronal migration, Periventricular leukomalacia	ORPHA:163681
6Q Terminal Deletion Syndrome	Abnormal cerebral cortex morphology, Polymicrogyria, Periventricular heterotopia, Hypoplasia of t...	ORPHA:75857
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 1	Aplastic anemia, Congenital thrombocytopenia, Amegakaryocytic thrombocytopenia	OMIM:605432
3-Methylglutaconic Aciduria, Type Viib	Thrombocytopenia, Leukopenia, Hepatic steatosis, Neutropenia	OMIM:616271
Thrombocytopenia 8, With Dysmorphic Features And Developmental Delay	Platelet anisocytosis, Thrombocytopenia, Increased mean platelet volume	OMIM:620475
Pediatric Systemic Lupus Erythematosus	Microangiopathic hemolytic anemia, Lymphopenia, Leukopenia, Lymphadenopathy, Thrombocytopenia	ORPHA:93552
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Polymicrogyria, Intracerebral periventricular calcifications, Basal ganglia cysts, Agenesis of co...	OMIM:608836
Miller-Dieker Lissencephaly Syndrome	Midline brain calcifications, Hypoplasia of the corpus callosum, Microcephaly, Cavum septum pellu...	OMIM:247200
Braddock-Carey Syndrome 1	Thrombocytopenia	OMIM:619980
Lathosterolosis	Intrahepatic cholestasis, Hepatic failure, Abnormal platelet morphology, Thrombocytopenia, Anisop...	ORPHA:46059
Holocarboxylase Synthetase Deficiency	Hyperammonemia, Thrombocytopenia	OMIM:253270
Bilateral Perisylvian Polymicrogyria	Cerebellar vermis hypoplasia, Bilateral perisylvian polymicrogyria, Perisylvian predominant thick...	ORPHA:98889
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome	Accessory spleen, Hepatic fibrosis, Severe B lymphocytopenia, Elevated circulating hepatic transa...	OMIM:620005
Hereditary Folate Malabsorption	Eosinophilia, Pancytopenia, Megaloblastic anemia, Thrombocytopenia	ORPHA:90045
Radio-Tartaglia Syndrome	Gray matter heterotopia, Microcephaly, Agenesis of corpus callosum	OMIM:619312
Oculocerebral Hypopigmentation Syndrome, Preus Type	Abnormal brainstem morphology, Aplasia/Hypoplasia of the cerebellum	ORPHA:2720
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form	Hypoalbuminemia, Anemia	ORPHA:79396
Japanese Encephalitis	Abnormal midbrain morphology, Abnormality of the internal capsule, Abnormal substantia nigra morp...	ORPHA:79139
Agammaglobulinemia 9, Autosomal Recessive	Absent circulating B cells, Thrombocytopenia	OMIM:619693
Hypertelorism-Hypospadias-Polysyndactyly Syndrome	Abnormal cortical gyration, Polymicrogyria, Abnormality of neuronal migration, Pachygyria, Lissen...	ORPHA:2211
Galloway-Mowat Syndrome 3	Hypoalbuminemia	OMIM:617729
Schimke Immunoosseous Dysplasia	Lymphopenia, Pancytopenia, Abnormal T cell morphology, Thrombocytopenia, Neutropenia, Anemia	OMIM:242900
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities	Microcephaly, Periventricular heterotopia, Thin corpus callosum, Periventricular leukomalacia	OMIM:619833
Smith-Kingsmore Syndrome	Thrombocytopenia	OMIM:616638
Cerebrofacioarticular Syndrome	Cerebellar vermis hypoplasia, Hypoplasia of the corpus callosum, Agenesis of corpus callosum, Dys...	ORPHA:314679
Juvenile Polyposis Of Infancy	Hypoalbuminemia, Anemia, Refractory anemia	ORPHA:79076
Hoyeraal-Hreidarsson Syndrome	Anemia, Bone marrow hypocellularity, Thrombocytopenia, Abnormal leukocyte morphology	ORPHA:3322
Cerebellar-Facial-Dental Syndrome	Abnormal midbrain morphology, Inferior cerebellar vermis hypoplasia, Hypoplasia of the pons, Hypo...	ORPHA:444072
Crimean-Congo Hemorrhagic Fever	Hepatic failure, Pancytopenia, Leukopenia, Leukocytosis, Cholecystitis, Splenomegaly, Elevated ci...	ORPHA:99827
Von Willebrand Disease, Type 3	Thrombocytopenia, Impaired platelet aggregation	OMIM:277480
Leigh Syndrome	Diffuse spongiform leukoencephalopathy, Neuronal loss in basal ganglia, Cerebellar atrophy, Sever...	ORPHA:506
Dyskeratosis Congenita	Bone marrow hypocellularity, Hepatic failure, Splenomegaly, Anemia, Cirrhosis, Thrombocytopenia, ...	ORPHA:1775
Immunodeficiency 22	Anemia, Decreased proportion of CD4-positive helper T cells, Thrombocytopenia, Retinal vasculitis	OMIM:615758
Biliary, Renal, Neurologic, And Skeletal Syndrome	Hypoalbuminemia, Hepatic fibrosis, Biliary cirrhosis, Increased circulating ferritin concentratio...	OMIM:619534
Van Maldergem Syndrome 1	Periventricular nodular heterotopia, Hypoplasia of the corpus callosum, Pachygyria, Gray matter h...	OMIM:601390
Von Willebrand Disease	Microcytic anemia, Abnormal platelet function, Abnormality of thrombocytes, Thrombocytopenia	ORPHA:903
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome	Bone marrow hypocellularity, Lymphopenia, Leukopenia, Reticulocytopenia, B lymphocytopenia, Neutr...	ORPHA:508542
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation	Cerebral cortical atrophy, Abnormal brainstem morphology, Hypoplasia of the corpus callosum, Abno...	ORPHA:464311
Aicardi Syndrome	Cerebellar vermis hypoplasia, Recurrent pneumonia, Chiari malformation, Polymicrogyria, Microceph...	OMIM:304050
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis	Hepatic failure, Micronodular cirrhosis, Splenomegaly, Thrombocytopenia, Hepatomegaly	OMIM:301072
Arima Syndrome	Cerebellar vermis hypoplasia, Hypoplasia of the brainstem, Dilated fourth ventricle, Brainstem dy...	OMIM:243910
Smith-Lemli-Opitz Syndrome	Hypoalbuminemia, Cholestatic liver disease, Hypocholesterolemia, Hepatic steatosis, Elevated circ...	OMIM:270400
Gaucher Disease Type 3	Pancytopenia, Splenomegaly, Anemia, Thrombocytopenia, Hepatomegaly	ORPHA:77261
Thanatophoric Dysplasia, Type I	Gray matter heterotopia, Temporal lobe dysplasia, Macrocephaly	OMIM:187600
Congenital Disorder Of Glycosylation, Type Iig	Anemia, Giant platelets, Thrombocytopenia	OMIM:611209
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance	Hypoalbuminemia, Hyperlipidemia	ORPHA:567546
Aprosencephaly And Cerebellar Dysgenesis	Aprosencephaly, Absent mesencephalon, Cerebellar dysplasia, Poorly formed metencephalon	OMIM:601374
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy	Pontocerebellar atrophy, Cerebral edema, Pachygyria, Recurrent lower respiratory tract infections...	ORPHA:258
9Q21.13 Microdeletion Syndrome	Gray matter heterotopia, Aplasia/Hypoplasia of the corpus callosum	ORPHA:531151
Thrombocytopenia 11 With Multiple Congenital Anomalies And Dysmorphic Facies	Cerebellar vermis hypoplasia, Recurrent otitis media, Secondary microcephaly, Cavum septum pelluc...	OMIM:620654
Fanconi Anemia, Complementation Group B	Aplastic anemia, Optic disc hypoplasia, Thrombocytopenia	OMIM:300514
Lig4 Syndrome	Pancytopenia, Acute lymphoblastic leukemia, Thrombocytopenia	OMIM:606593
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome	High nonceruloplasmin-bound serum copper, Thrombocytopenia	ORPHA:457351
Gangliocytoma	Abnormal brainstem morphology, Abnormal cerebellum morphology	ORPHA:251937
Catastrophic Antiphospholipid Syndrome	Thrombocytopenia, Retinal arterial occlusion, Coombs-positive hemolytic anemia, Microangiopathic ...	ORPHA:464343
Multiple Mitochondrial Dysfunctions Syndrome 7	Thrombocytopenia, Decreased liver function, Hyperglycinemia, Hypernatremia	OMIM:620423
Beemer-Ertbruggen Syndrome	Thrombocytopenia	ORPHA:1237
Amoebiasis Due To Free-Living Amoebae	Abnormal midbrain morphology, Abnormal cerebral cortex morphology, Unusual skin infection, Abnorm...	ORPHA:68
Acute Radiation Syndrome	Lymphopenia, Granulocytopenia, Thrombocytopenia	ORPHA:454831
Congenital Disorder Of Glycosylation, Type Iiw	Elevated circulating hepatic transaminase concentration, Increased hepatic echogenicity, Microcyt...	OMIM:619525
Cerebroretinal Microangiopathy With Calcifications And Cysts 1	Bone marrow hypocellularity, Optic atrophy, Exudative retinopathy, Thrombocytopenia, Anemia, Reti...	OMIM:612199
Yellow Fever	Pancreatic hyperplasia, Elevated circulating creatinine concentration, Elevated circulating aspar...	ORPHA:99829
16P13.11 Microdeletion Syndrome	Abnormality of neuronal migration, Microcephaly, Agenesis of corpus callosum	ORPHA:261236
Thrombocytopenia 3	Decreased mean platelet volume, Thrombocytopenia	OMIM:273900
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age	Periventricular heterotopia, Absent septum pellucidum, Macrocephaly	OMIM:618870
Tick-Borne Encephalitis	Elevated circulating hepatic transaminase concentration, Leukopenia, Leukocytosis, Thrombocytopen...	ORPHA:297
Periventricular Nodular Heterotopia	Periventricular heterotopia	ORPHA:98892
Fanconi Anemia, Complementation Group E	Pancytopenia, Anemia, Reticulocytopenia, Neutropenia, Thrombocytopenia, Leukemia	OMIM:600901
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome	Hepatic fibrosis, Cholelithiasis, Abnormality of the spleen, Hepatosplenomegaly, Pancytopenia, Sp...	ORPHA:2072
Takenouchi-Kosaki Syndrome	Optic atrophy, Thrombocytopenia, Increased mean platelet volume	OMIM:616737
Microphthalmia, Syndromic 9	Multilobulated spleen, Hypoplastic spleen	OMIM:601186
16Q24.3 Microdeletion Syndrome	Increased mean corpuscular volume, Thrombocytopenia, Optic nerve hypoplasia	ORPHA:261250
Thrombocytopenia 6	Thrombocytopenia	OMIM:616937
Fanconi Anemia, Complementation Group C	Bone marrow hypocellularity, Pancytopenia, Anemia, Reticulocytopenia, Neutropenia, Thrombocytopen...	OMIM:227645
Fanconi Anemia, Complementation Group A	Pancytopenia, Anemia, Reticulocytopenia, Neutropenia, Thrombocytopenia, Leukemia	OMIM:227650
Splenogonadal Fusion-Limb Defects-Micrognathia Syndrome	Abnormality of neuronal migration	ORPHA:2063
Thanatophoric Dysplasia Type 1	Gray matter heterotopia, Macrocephaly	ORPHA:1860
Hellp Syndrome	Elevated circulating hepatic transaminase concentration, Microangiopathic hemolytic anemia, Hemol...	ORPHA:244242
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome	Hepatitis, Lymphopenia, Hepatosplenomegaly, Autoimmune hemolytic anemia, B lymphocytopenia, Neutr...	ORPHA:391487
Fanconi Anemia, Complementation Group D2	Bone marrow hypocellularity, Annular pancreas, Pancytopenia, Anemia, Reticulocytopenia, Neutropen...	OMIM:227646
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome	Hyperbilirubinemia, Absent gallbladder, Hypocalcemia, Thrombocytopenia, Anemia	ORPHA:163979
Wiskott-Aldrich Syndrome	Abnormal eosinophil morphology, Acute leukemia, Microcytic anemia, Lymphopenia, Chronic leukemia,...	ORPHA:906
Proteasome-Associated Autoinflammatory Syndrome 1	Elevated circulating hepatic transaminase concentration, Microcytic anemia, Hypertriglyceridemia,...	OMIM:256040
Wars2-Related Combined Oxidative Phosphorylation Defect	Rod-cone dystrophy, Thrombocytopenia	ORPHA:572798
Thrombocytopenia 10	Decreased mean platelet volume, Thrombocytopenia	OMIM:620484
Noonan Syndrome 4	Thrombocytopenia	OMIM:610733
Fragile X-Associated Tremor/Ataxia Syndrome	Diffuse cerebellar atrophy, Cerebral cortical atrophy, Abnormal brainstem morphology	ORPHA:93256
Combined Oxidative Phosphorylation Defect Type 23	Abnormal basal ganglia MRI signal intensity, Abnormal brainstem MRI signal intensity	ORPHA:444013
Stevens-Johnson Syndrome	Elevated circulating hepatic transaminase concentration, Acute hepatic failure, Pancreatitis, Thr...	ORPHA:36426
Peroxisome Biogenesis Disorder 13A (Zellweger)	Gray matter heterotopia, Polymicrogyria	OMIM:614887
Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome	Macrocephaly, Periventricular heterotopia, Agenesis of corpus callosum	OMIM:618929
Combined Oxidative Phosphorylation Defect Type 7	Abnormal cerebral white matter morphology, Hypoplasia of the corpus callosum, Abnormal brainstem ...	ORPHA:254930
Jacobsen Syndrome	Optic atrophy, Annular pancreas, Chorioretinal coloboma, Macular hypoplasia, Thrombocytopenia	OMIM:147791
Koolen-De Vries Syndrome	Gray matter heterotopia, Microcephaly, Hypoplasia of the corpus callosum, Recurrent urinary tract...	OMIM:610443
Exercise-Induced Malignant Hyperthermia	Hepatic failure, Hyperphosphatemia, Decreased liver function, Hypocalcemia, Elevated circulating ...	ORPHA:466650
Toxic Epidermal Necrolysis	Elevated circulating hepatic transaminase concentration, Acute hepatic failure, Pancreatitis, Thr...	ORPHA:537
Recon Progeroid Syndrome	Anemia, Thrombocytopenia	OMIM:620370
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia	Hepatomegaly, Decreased hemoglobin concentration, Thrombocytopenia	OMIM:619005
Periventricular Nodular Heterotopia 9	Polymicrogyria, Periventricular nodular heterotopia, Hypoplasia of the corpus callosum, Microceph...	OMIM:618918
Fanconi Anemia, Complementation Group F	Anemia, Bone marrow hypocellularity, Leukopenia, Thrombocytopenia	OMIM:603467
Acute Liver Failure	Elevated circulating hepatic transaminase concentration, Hepatitis, Hepatocellular necrosis, Hepa...	ORPHA:90062
Primary Sjögren Syndrome	Normocytic anemia, Biliary cirrhosis, Chronic active hepatitis, Lymphopenia, Leukopenia, Decrease...	ORPHA:289390
Diamond-Blackfan Anemia	Macrocytic dyserythropoietic anemia, Increased mean corpuscular volume, Persistence of hemoglobin...	ORPHA:124
Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations	Cerebellar vermis hypoplasia, Primary microcephaly, Hypoplasia of the pons	OMIM:617523
Peroxisome Biogenesis Disorder 1A (Zellweger)	Hypoplastic olfactory lobes, Cerebral cortical atrophy, Polymicrogyria, Aplasia/Hypoplasia of the...	OMIM:214100
Atelis Syndrome 2	Anemia, Vitreous hemorrhage, Thrombocytopenia, Remnants of the hyaloid vascular system	OMIM:620185
Multiple Acyl-Coa Dehydrogenase Deficiency	Gray matter heterotopia, Macrocephaly	ORPHA:26791
Down Syndrome	Polycythemia, Acute megakaryocytic leukemia, Abnormality of the lymphatic system, Thrombocytopeni...	ORPHA:870
Orofaciodigital Syndrome Xiv	Cerebellar vermis hypoplasia, Polymicrogyria, Periventricular heterotopia, Hypoplasia of the corp...	OMIM:615948
Tropical Endomyocardial Fibrosis	Hypoalbuminemia, Hepatomegaly, Eosinophilia, Splenomegaly	ORPHA:75565
Genitourinary And/Or Brain Malformation Syndrome	Chiari malformation, Polymicrogyria, Secondary microcephaly, Absent septum pellucidum, Agenesis o...	OMIM:618820
Diamond-Blackfan Anemia 21	Erythroid hypoplasia, Anemia, Thrombocytopenia	OMIM:620072
Dyskeratosis Congenita, X-Linked	Bone marrow hypocellularity, Optic atrophy, Pancytopenia, Leukopenia, Acute myeloid leukemia, Cir...	OMIM:305000
Holoprosencephaly	Aplasia/Hypoplasia of the corpus callosum, Abnormality of neuronal migration, Microcephaly, Aplas...	ORPHA:2162
Nijmegen Breakage Syndrome	Recurrent pneumonia, Abnormality of neuronal migration, Microcephaly, Recurrent sinopulmonary inf...	ORPHA:647
Van Maldergem Syndrome 2	Gray matter heterotopia, Periventricular nodular heterotopia, Subcortical band heterotopia, Hypop...	OMIM:615546
Thrombocytopenia 1	Decreased mean platelet volume, Congenital thrombocytopenia, Intermittent thrombocytopenia	OMIM:313900
Orofaciodigital Syndrome I	Abnormal cortical gyration, Cerebral atrophy, Cerebellar cyst, Agenesis of corpus callosum, Micro...	OMIM:311200
Infection-Related Hemolytic Uremic Syndrome	Leukocytosis, Hypocalcemia, Hyponatremia, Pancreatitis, Thrombocytopenia, Hyperkalemia, Hemolytic...	ORPHA:544482
Acromelic Frontonasal Dysostosis	Periventricular nodular heterotopia, Calcification of falx cerebri, Absent septum pellucidum, Tub...	OMIM:603671
Sarcoidosis	Hepatic failure, Decreased liver function, Abnormal lymph node morphology, Hemolytic anemia, Leuk...	ORPHA:797
Hemorrhagic Fever-Renal Syndrome	Elevated circulating hepatic transaminase concentration, Hyperphosphatemia, Elevated circulating ...	ORPHA:340
21Q22.11Q22.12 Microdeletion Syndrome	Anemia, Thrombocytopenia	ORPHA:261323
Achondroplasia	Recurrent otitis media, Brain stem compression, Megalencephaly, Macrocephaly	OMIM:100800
Ivic Syndrome	Leukocytosis, Thrombocytopenia	ORPHA:2307
Bcard Syndrome	Thrombocytopenia	OMIM:612394
22Q11.2 Deletion Syndrome	Optic atrophy, Cholelithiasis, Abnormality of thrombocytes, Retinal arteriolar tortuosity, Hypoca...	ORPHA:567
Deeah Syndrome	Hepatomegaly, Exocrine pancreatic insufficiency, Decreased hemoglobin concentration, Thrombocytop...	OMIM:619004
Duplication Of The Pituitary Gland	Abnormal midbrain morphology, Microcephaly, Hypoplasia of olfactory tract, Agenesis of corpus cal...	ORPHA:314621
Igg4-Related Dacryoadenitis And Sialadenitis	Abnormal optic nerve morphology, Optic nerve compression, Lymphadenopathy, Thrombocytopenia, Retr...	ORPHA:79078
Nijmegen Breakage Syndrome	Retinal pigment epithelial mottling, Autoimmune hemolytic anemia, Thrombocytopenia, B lymphocytop...	OMIM:251260
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome	Optic atrophy, Increased mean platelet volume, Thrombocytopenia, Abnormality of the lymphatic system	ORPHA:487796
Midface Hypoplasia, Obesity, Developmental Delay, And Neonatal Hypotonia	Gray matter heterotopia	OMIM:608624
Orofaciodigital Syndrome Type 14	Open operculum, Dilated fourth ventricle, Periventricular heterotopia, Hypoplasia of the corpus c...	ORPHA:434179
Fetal And Neonatal Alloimmune Thrombocytopenia	Neonatal alloimmune thrombocytopenia	ORPHA:853
Diamond-Blackfan Anemia 1	Increased mean corpuscular volume, Persistence of hemoglobin F, Elevated red cell adenosine deami...	OMIM:105650
Ivic Syndrome	Leukocytosis, Thrombocytopenia	OMIM:147750
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome	Gray matter heterotopia, Microcephaly, Hypoplasia of the corpus callosum	ORPHA:453499
Thrombocytopenia-Absent Radius Syndrome	Thrombocytopenia	ORPHA:3320
Microcephalic Osteodysplastic Primordial Dwarfism, Type I	Cerebellar vermis hypoplasia, Abnormal cortical gyration, Cerebral hypoplasia, Polymicrogyria, Pa...	OMIM:210710
Ogden Syndrome	Polycythemia, Hyperbilirubinemia, Microvesicular hepatic steatosis, Iron deficiency anemia, Throm...	OMIM:300855
Thrombocytopenia-Absent Radius Syndrome	Hepatosplenomegaly, Leukocytosis, Eosinophilia, Thrombocytopenia, Anemia, Pancreatic cysts	OMIM:274000
Dubowitz Syndrome	Anemia, Abnormality of neutrophils, Acute lymphoblastic leukemia, Thrombocytopenia	ORPHA:235
Cornelia De Lange Syndrome 1	Optic atrophy, Optic disc coloboma, Thrombocytopenia	OMIM:122470
Opitz-Kaveggia Syndrome	Postnatal macrocephaly, Partial agenesis of the corpus callosum, Relative macrocephaly, Gray matt...	OMIM:305450
Systemic Lupus Erythematosus	Leukopenia, Retinopathy, Lymphadenopathy, Thrombocytopenia, Hemolytic anemia	ORPHA:536
Wiskott-Aldrich Syndrome	Decreased mean platelet volume, Decreased proportion of CD8-positive T cells, Lymphopenia, Decrea...	OMIM:301000
Oculocerebrorenal Syndrome Of Lowe	Hyponatremia, Hypokalemia, Hypophosphatemia, Hypercholesterolemia, Hypoammonemia, Thrombocytopeni...	ORPHA:534
Digeorge Syndrome	Cholelithiasis, Hepatic steatosis, Hypocalcemia, Splenomegaly, Hypoplasia of the thymus, Thromboc...	OMIM:188400
X-Linked Cerebral Adrenoleukodystrophy	Global brain atrophy, Abnormal brainstem white matter morphology, Abnormal periventricular white ...	ORPHA:139396
Fanconi Anemia	Abnormality of the liver, Leukopenia, Thrombocytopenia, Anemia, Pyridoxine-responsive sideroblast...	ORPHA:84
Fibular Hemimelia	Thrombocytopenia	ORPHA:93323
Jacobsen Syndrome	Bone marrow hypocellularity, Annular pancreas, Thrombocytopenia	ORPHA:2308
Neuromuscular Oculoauditory Syndrome	Periventricular heterotopia, Agenesis of corpus callosum	OMIM:618733
Ventriculomegaly With Cystic Kidney Disease	Gray matter heterotopia	OMIM:219730
Paget Disease Of Bone 2, Early-Onset	Brain stem compression	OMIM:602080
Alport Syndrome 1, X-Linked	Thrombocytopenia	OMIM:301050
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome	Abnormality of neuronal migration, Microcephaly	ORPHA:3186
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation	Hypoplasia of the corpus callosum, Agenesis of corpus callosum, Microcephaly, Gray matter heterot...	ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion	Hypoplasia of the corpus callosum, Agenesis of corpus callosum, Microcephaly, Gray matter heterot...	ORPHA:352665
Aicardi-Goutières Syndrome	Neonatal alloimmune thrombocytopenia, Elevated circulating hepatic transaminase concentration, He...	ORPHA:51
Arnold-Chiari Malformation Type I	Chiari type I malformation, Brain stem compression	ORPHA:268882
Pagod Syndrome	Abnormality of neuronal migration, Microcephaly	ORPHA:991
Mismatch Repair Cancer Syndrome 1	Gray matter heterotopia, Agenesis of corpus callosum	OMIM:276300
Listeriosis	Unusual CNS infection, Unusual skin infection, Brain abscess, Sepsis, Infectious encephalitis, Me...	ORPHA:533
Fontaine Progeroid Syndrome	Cerebellar vermis hypoplasia, Periventricular heterotopia, Hypoplasia of the corpus callosum, Cer...	OMIM:612289
Pmm2-Cdg	Hypoalbuminemia, Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Reduc...	ORPHA:79318
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome	Hypoalbuminemia	OMIM:614748
Alobar Holoprosencephaly	Macrocephaly, Abnormal brainstem morphology, Microcephaly, Agenesis of corpus callosum	ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly	Macrocephaly, Abnormal brainstem morphology, Microcephaly, Agenesis of corpus callosum	ORPHA:93926
Lobar Holoprosencephaly	Macrocephaly, Abnormal brainstem morphology, Microcephaly, Agenesis of corpus callosum	ORPHA:93924
Semilobar Holoprosencephaly	Macrocephaly, Abnormal brainstem morphology, Microcephaly, Agenesis of corpus callosum	ORPHA:220386
Mowat-Wilson Syndrome Due To Monosomy 2Q22	Abnormal corpus callosum morphology, Cerebellar vermis hypoplasia, Polymicrogyria, Recurrent otit...	ORPHA:261537
Hydrolethalus Syndrome 1	Abnormal cortical gyration, Absent septum pellucidum, Agenesis of corpus callosum, Gray matter he...	OMIM:236680
Roberts Syndrome	Thrombocytopenia	ORPHA:3103
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome	Abnormal midbrain morphology, Recurrent upper respiratory tract infections, Infectious encephalit...	ORPHA:293987
Osteogenesis Imperfecta	Thrombocytopenia	ORPHA:666
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation	Abnormal corpus callosum morphology, Cerebellar vermis hypoplasia, Hypoplastic anterior commissur...	ORPHA:261552
Full Nf2-Related Schwannomatosis	Abnormal cerebellum morphology, Brain stem compression	ORPHA:637
Meningioma	Abnormal cerebellum morphology, Brain stem compression	ORPHA:2495
Mowat-Wilson Syndrome	Cerebellar vermis hypoplasia, Focal cortical dysplasia, Polymicrogyria, Recurrent otitis media, A...	ORPHA:2152
Proteus Syndrome	Gray matter heterotopia, Recurrent infections, Macrocephaly	ORPHA:744
Genitopatellar Syndrome	Periventricular heterotopia, Agenesis of corpus callosum, Microcephaly, Pachygyria, Thin corpus c...	OMIM:606170
Noonan Syndrome 1	Juvenile myelomonocytic leukemia, Amegakaryocytic thrombocytopenia	OMIM:163950

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 Arhgef2

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 Arhgef2.

No publications found that use IMPC mice or data for Arhgef2.

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MGI Allele	Allele Type	Produced
Arhgef2^em1(IMPC)Mbp	Exon Deletion	Mice, Tissue
Arhgef2^{tm1(NCOM)Cmhd}	Reporter-tagged deletion allele (with selection cassette)	Targeting vectors, ES Cells
Arhgef2^{tm277613(L1L2_Bact_P)}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors

Sequence

Guides

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

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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Gene: Arhgef2 MGI:103264

Gene Summary

IMPC Data Collections

IMPC Phenotype Summary

Phenotypes

lacZ Expression

Associated Images

X-ray

X-ray

Human diseases caused by Arhgef2 mutations

Histopathology

IMPC related publications

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Access Data Release 21.1 Data