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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
decreased brain size	Arhgef2^em1(IMPC)Mbp	HOM	Early adult	0.00
abnormal liver 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
abnormal spleen morphology	Arhgef2^em1(IMPC)Mbp	HOM	Early adult	0.00
small liver	Arhgef2^em1(IMPC)Mbp	HOM	Early adult	0.00
increased circulating total protein level	Arhgef2^em1(IMPC)Mbp	HOM	Early adult	3.50×10^-05
increased circulating serum albumin level	Arhgef2^em1(IMPC)Mbp	HOM	Early adult	4.22×10^-05
abnormal brain morphology	Arhgef2^em1(IMPC)Mbp	HOM	Early adult	0.00
abnormal skin morphology	Arhgef2^em1(IMPC)Mbp	HOM	Early adult	0.00
thrombocytopenia	Arhgef2^em1(IMPC)Mbp	HOM	Early adult	9.14×10^-06

Download data as: TSV XLS

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lacZ Expression

Expression data not available

Associated Images

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

X-ray

XRay Images Whole Body Dorso Ventral

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 (753 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		Hypoplasia of the pons, Cerebellar vermis hypoplasia, Primary microcephaly	OMIM:617523

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

Disease	Matching phenotypes	Source
Lissencephaly 1	Subcortical band heterotopia, Abnormal cerebral white matter morphology, Hypoplasia of the brains...	OMIM:607432
Cortical Dysplasia, Complex, With Other Brain Malformations 3	Agyria, Microcephaly, Cortical dysplasia, Subcortical band heterotopia, Gray matter heterotopia, ...	OMIM:615411
Microlissencephaly	Cerebellar atrophy, Thick cerebral cortex, Subcortical heterotopia, Cerebral dysmyelination, Micr...	ORPHA:1083
Lissencephaly 3	Cerebellar vermis hypoplasia, Agyria, Periventricular laminar heterotopia, Microcephaly, Gray mat...	OMIM:611603
Cortical Dysplasia, Complex, With Other Brain Malformations 10	Thick cerebral cortex, Hypoplasia of the pons, Hypoplasia of the brainstem, Lissencephaly, Cerebe...	OMIM:618677
Cholestasis, Progressive Familial Intrahepatic, 10	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Conjugated hyperbili...	OMIM:619868
Joubert Syndrome 13	Pachygyria, Cerebellar vermis hypoplasia, Molar tooth sign on MRI	OMIM:614173
Neurodevelopmental Disorder With Microcephaly, Cortical Malformations, And Spasticity	Cerebellar atrophy, Microcephaly, Cerebral atrophy, Hypoplasia of the brainstem, Lissencephaly, H...	OMIM:618730
Hemophagocytic Syndrome Associated With An Infection	Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Hypertriglyceridemia, Increased circul...	ORPHA:158048
Periventricular Heterotopia With Microcephaly, Autosomal Recessive	Periventricular heterotopia, Microcephaly, Hypoplasia of the corpus callosum, Periventricular nod...	OMIM:608097
Cortical Dysplasia, Complex, With Other Brain Malformations 7	Cerebellar vermis hypoplasia, Unilateral polymicrogyria, Microcephaly, Partial agenesis of the co...	OMIM:610031
Sodium-Dependent Multivitamin Transporter Deficiency	Cerebellar atrophy, Decreased circulating IgG level, Microcephaly, Hypoplasia of the pons, Cerebr...	OMIM:618973
Polymicrogyria Due To Tubb2B Mutation	Cerebellar atrophy, Schizencephaly, Microcephaly, Hypoplasia of the pons, Cortical dysplasia, Dys...	ORPHA:300573
Chudley-Mccullough Syndrome	Dysplastic corpus callosum, Partial agenesis of the corpus callosum, Gray matter heterotopia, Cer...	OMIM:604213
Neurodevelopmental Disorder With Cerebellar Hypoplasia And Spasticity	Periventricular nodular heterotopia, Cerebellar hypoplasia, Microcephaly	OMIM:618572
Sub-Cortical Nodular Heterotopia	Subcortical heterotopia, Abnormality of neuronal migration, Abnormal basal ganglia morphology, Hy...	ORPHA:101029
Periventricular Nodular Heterotopia 8	Periventricular nodular heterotopia, Reduced cerebral white matter volume, Cerebellar vermis atrophy	OMIM:618185
Cortical Dysplasia, Complex, With Other Brain Malformations 1	Frontal polymicrogyria, Fusion of the caudate and putamen, Microcephaly, Cortical dysplasia, Simp...	OMIM:614039
Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome	Recurrent infections, Cerebellar hypoplasia, Primary microcephaly, Polymicrogyria, Agenesis of co...	ORPHA:171703
Hemophagocytic Lymphohistiocytosis, Familial, 4	Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Increased circulating ferritin concentration, J...	OMIM:603552
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10	Type II lissencephaly, Cerebellar dysplasia	OMIM:615041
Hypermethioninemia With S-Adenosylhomocysteine Hydrolase Deficiency	Increased circulating creatine kinase MM isoform, Elevated circulating aspartate aminotransferase...	OMIM:613752
Lissencephaly 5	Cerebellar vermis hypoplasia, Subcortical band heterotopia, Porencephalic cyst, Leukoencephalopat...	OMIM:615191
Cortical Dysplasia, Complex, With Other Brain Malformations 6	Dilated fourth ventricle, Cerebellar vermis hypoplasia, Focal polymicrogyria, Partial agenesis of...	OMIM:615771
Hemophagocytic Lymphohistiocytosis, Familial, 1	Hyponatremia, Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Increa...	OMIM:267700
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement	Type II lissencephaly, Abnormal cerebral white matter morphology, Hypoplasia of the brainstem, Gr...	ORPHA:352682
Gaisböck Syndrome	Hypertriglyceridemia, Splenomegaly, Increased mean corpuscular hemoglobin concentration, Hyperpro...	ORPHA:90041
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures	Microcephaly, Cortical dysplasia, Abnormality of neuronal migration, Macrocephaly, Abnormal corpu...	OMIM:618709
Diarrhea 13	Elevated hepatic transaminase, Hepatic steatosis, Hypoalbuminemia	OMIM:620357
Omenn Syndrome	Hepatomegaly, Severe B lymphocytopenia, Eosinophilia, Splenomegaly, Thrombocytopenia, Lymphadenop...	OMIM:603554
Sea-Blue Histiocyte Disease	Elevated circulating aspartate aminotransferase concentration, Splenomegaly, Elevated circulating...	OMIM:269600
Multiple Myeloma	Hypercalcemia, Splenomegaly, Elevated circulating creatinine concentration, Lymphadenopathy, Hype...	ORPHA:29073
Erythroleukemia, Familial, Susceptibility To	Acute myeloid leukemia, Hepatomegaly, Splenomegaly, Anemia, Erythroid hyperplasia, Leukemia, Thro...	OMIM:133180
Hepatoportal Sclerosis	Elevated hepatic transaminase, Portal hypertension, Nodular regenerative hyperplasia of liver, Po...	ORPHA:64743
Niemann-Pick Disease, Type B	Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Bone-marrow foam cel...	OMIM:607616
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome	Abnormal hemoglobin, Splenomegaly, Thrombocytopenia, Abnormal platelet function, Anemia	ORPHA:231393
Hemophagocytic Lymphohistiocytosis, Familial, 2	Hyponatremia, Hepatomegaly, Elevated hepatic transaminase, Hypertriglyceridemia, Pancytopenia, In...	OMIM:603553
Lymphoproliferative Syndrome, X-Linked, 1	Hepatomegaly, Pancytopenia, Aplastic anemia, Elevated circulating C-reactive protein concentratio...	OMIM:308240
Leishmaniasis	Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Abnormal macrophage morphology, Spleno...	ORPHA:507
Bilateral Striopallidodentate Calcinosis	Hepatomegaly, Abnormality of the liver, Thrombocytopenia	ORPHA:1980
Refractory Celiac Disease	Elevated hepatic transaminase, Normocytic anemia, Macrocytic anemia, Microcytic anemia, Hypomagne...	ORPHA:398063
Aplasia Cutis Congenita With Intestinal Lymphangiectasia	Intestinal lymphangiectasia, Lymphopenia, Hypoproteinemia	OMIM:207731
Immunodeficiency 27A	Splenomegaly, Leukocytosis, Hepatosplenomegaly, Lymphadenopathy, Enlarged mesenteric lymph node, ...	OMIM:209950
Macrophage Activation Syndrome	Hepatomegaly, Hypertriglyceridemia, Elevated circulating aspartate aminotransferase concentration...	ORPHA:158061
Immunodeficiency 32B	Hepatomegaly, Neutrophilia, Eosinophilia, Splenomegaly, Thrombocytopenia, Impaired oxidative burs...	OMIM:226990
Lissencephaly, X-Linked, 1	Gray matter heterotopia, Lissencephaly, Pachygyria, Agenesis of corpus callosum, Agyria	OMIM:300067
Lissencephaly 2	Thick cerebral cortex, 4-layered lissencephaly, Microcephaly, Hypoplasia of the pons, Lissencepha...	OMIM:257320
Gaucher Disease, Atypical, Due To Saposin C Deficiency	Hepatomegaly, Hypersplenism, Splenomegaly, Thrombocytopenia, Hypocholesterolemia, Anemia	OMIM:610539
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease	Hypertriglyceridemia, Splenomegaly, Increased circulating ferritin concentration, Hepatosplenomeg...	OMIM:613101
Tubulinopathy-Associated Dysgyria	Cerebellar vermis hypoplasia, Microcephaly, Hypoplasia of the pons, Abnormal brainstem morphology...	ORPHA:467166
Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations	Schizencephaly, Microcephaly, Pachygyria, Simplified gyral pattern, Abnormality of neuronal migra...	OMIM:604317
Isolated Lissencephaly Type 1 Without Known Genetic Defects	Gray matter heterotopia, Pachygyria, Agyria	ORPHA:1084
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)	Fulminant hepatic failure, Hepatomegaly, Elevated circulating aspartate aminotransferase concentr...	OMIM:618528
Thrombocytopenia 2	Leukocytosis, Thrombocytopenia	OMIM:188000
Lymphangiectasia, Intestinal	Intestinal lymphangiectasia, Lymphopenia, Neonatal hypoproteinemia	OMIM:152800
Nephrotic Syndrome, Type 7	Hemolytic anemia, Hypoalbuminemia, Thrombocytopenia	OMIM:615008
Immune Thrombocytopenia	Thrombocytopenia	OMIM:188030
Autoinflammation With Infantile Enterocolitis	Pancytopenia, Elevated circulating C-reactive protein concentration, Splenomegaly, Increased circ...	OMIM:616050
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy	Hepatomegaly, Iron deficiency anemia, Hypoalbuminemia, Thrombocytosis, Intestinal lymphangiectasi...	OMIM:226300
Nodular Neuronal Heterotopia	Abnormality of neuronal migration	ORPHA:2149
Pyruvate Dehydrogenase E3-Binding Protein Deficiency	Microcephaly, Abnormal cerebellum morphology, Abnormal brainstem morphology, Periventricular cyst...	ORPHA:255182
Pulmonary Fibrosis-Hepatic Hyperplasia-Bone Marrow Hypoplasia Syndrome	Elevated hepatic transaminase, Portal hypertension, Nodular regenerative hyperplasia of liver, In...	ORPHA:210136
Triokinase And Fmn Cyclase Deficiency Syndrome	Hepatomegaly, Microcytic anemia, Elevated circulating alanine aminotransferase concentration, Hyp...	OMIM:618805
Bilateral Frontoparietal Polymicrogyria	Cerebellar vermis hypoplasia, Cerebral dysmyelination, Microcephaly, Hypoplasia of the pons, Abno...	ORPHA:101070
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2	Cerebellar atrophy, Microcephaly, Hypoplasia of the pons, Periventricular heterotopia, Partial ag...	OMIM:616171
Neutropenia, Severe Congenital, 5, Autosomal Recessive	Hepatomegaly, Extramedullary hematopoiesis, Splenomegaly, Thrombocytopenia, Leukopenia, Neutropen...	OMIM:615285
Malaria	Anemia, Thrombocytopenia, Hyperbilirubinemia, Elevated circulating C-reactive protein concentration	ORPHA:673
Dengue Fever	Hepatomegaly, Thrombocytopenia, Hypoproteinemia, Leukopenia	ORPHA:99828
Preeclampsia/Eclampsia 1	Elevated hepatic transaminase, Thrombocytopenia	OMIM:189800
Immunodeficiency 43	Decreased circulating beta-2-microglobulin level, B lymphocytopenia, Hypoalbuminemia, Reduced nat...	OMIM:241600
Mega-Corpus-Callosum Syndrome With Cerebellar Hypoplasia And Cortical Malformations	Cerebellar vermis hypoplasia, Periventricular heterotopia, Thick corpus callosum, Simplified gyra...	OMIM:618273
Lymphoproliferative Syndrome 1	Hepatomegaly, Pancytopenia, Autoimmune hemolytic anemia, Elevated circulating C-reactive protein ...	OMIM:613011
Bleeding Disorder, Platelet-Type, 9	Thrombocytopenia	OMIM:614200
Citrullinemia Type Ii	Elevated hepatic transaminase, Decreased HDL cholesterol concentration, Acute hyperammonemia, Hyp...	ORPHA:247585
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5	Cerebellar dysplasia, Agenesis of cerebellar vermis, Type II lissencephaly, Hypoplasia of the pon...	OMIM:613153
Cholesteryl Ester Storage Disease	Acute hepatic failure, Decreased HDL cholesterol concentration, Bone-marrow foam cells, Leukopeni...	OMIM:278000
Leptospirosis	Hepatomegaly, Jaundice, Hepatitis, Lymphadenopathy, Hyperproteinemia, Elevated serum transaminase...	ORPHA:509
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease	Elevated hepatic transaminase, Acute myeloid leukemia, Pancytopenia, Hypertriglyceridemia, Elevat...	ORPHA:158057
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency	Elevated hepatic transaminase, Hepatomegaly, Elevated circulating creatine kinase concentration, ...	OMIM:615895
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)	Elevated hepatic transaminase, Hepatomegaly, Elevated circulating alpha-fetoprotein concentration...	OMIM:251880
Primary Intestinal Lymphangiectasia	Peritoneal effusion, Abnormal lymphatic vessel morphology, Reduced proportion of CD4+ effector me...	ORPHA:90362
Congenital Disorder Of Glycosylation, Type Iik	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating...	OMIM:614727
Symmetrical Thalamic Calcifications	Cerebral calcification, Abnormality of neuronal migration, Microcephaly	ORPHA:1314
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome	Lymphopenia, Hypoproteinemia	ORPHA:1116
Enterokinase Deficiency	Hypoproteinemia	OMIM:226200
Thrombocytopenia 7	Reduced platelet alpha granules, Thrombocytopenia, Impaired ADP-induced platelet aggregation, Red...	OMIM:619130
Transaldolase Deficiency	Thrombocytopenia, Hepatosplenomegaly, Abnormal circulating glutamine concentration, Cirrhosis, In...	ORPHA:101028
Acquired Idiopathic Sideroblastic Anemia	Normocytic anemia, Hepatomegaly, Acute myeloid leukemia, Pancytopenia, Anemia of inadequate produ...	ORPHA:75564
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11	Cerebellar dysplasia, Optic nerve hypoplasia, Hypoplasia of the pons, Leukoencephalopathy, Hypopl...	OMIM:615181
Rajab Interstitial Lung Disease With Brain Calcifications 2	Elevated hepatic transaminase, Hypertriglyceridemia, Microcytic anemia, Hepatosplenomegaly, Hypoa...	OMIM:619013
3-Hydroxyisobutyric Aciduria	Congenital intracerebral calcification, Abnormality of neuronal migration, Microcephaly	OMIM:236795
Beta-Thalassemia	Hepatomegaly, Abnormal hemoglobin, Microcytic anemia, Splenomegaly, Thrombocytopenia, Hepatitis, ...	ORPHA:848
Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome	Amegakaryocytic thrombocytopenia	ORPHA:71289
Aicardi-Goutieres Syndrome 3	Elevated hepatic transaminase, Thrombocytopenia, Hepatosplenomegaly	OMIM:610329
Congenital Muscular Dystrophy Without Intellectual Disability	Cerebellar atrophy, Microcephaly, Abnormal cerebral white matter morphology, Gray matter heteroto...	ORPHA:370980
Aicardi-Goutieres Syndrome 6	Splenomegaly, Hepatomegaly, Hemolytic anemia, Thrombocytopenia	OMIM:615010
Septopreoptic Holoprosencephaly	Abnormal midbrain morphology, Megalencephaly, Hypoplasia of the pons, Microcephaly, Perisylvian p...	ORPHA:280195
Gray Platelet Syndrome	Splenomegaly, Abnormality of thrombocytes, Thrombocytopenia	ORPHA:721
Lissencephaly 6 With Microcephaly	Cerebellar atrophy, Microcephaly, Periventricular heterotopia, Partial agenesis of the corpus cal...	OMIM:616212
Periventricular Nodular Heterotopia 1	Abnormality of neuronal migration, Recurrent infections, Gray matter heterotopia, Cerebellar hypo...	OMIM:300049
Joubert Syndrome 30	Cerebellar atrophy, Gray matter heterotopia, Molar tooth sign on MRI, Superior cerebellar dysplas...	OMIM:617622
Refractory Anemia With Excess Blasts	Abnormal circulating protein concentration, Acute myeloid leukemia, Anemia of inadequate producti...	ORPHA:86839
Congenital Muscular Dystrophy With Cerebellar Involvement	Dilated fourth ventricle, Fusion of the cerebellar hemispheres, Optic nerve hypoplasia, Olivopont...	ORPHA:370959
Amegakaryocytic Thrombocytopenia, Congenital, 1	Amegakaryocytic thrombocytopenia, Pancytopenia, Thrombocytopenia	OMIM:604498
Familial Hemophagocytic Lymphohistiocytosis	Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Increased circulating ferritin...	ORPHA:540
Beemer Lethal Malformation Syndrome	Thrombocytopenia	OMIM:209970
Gómez-López-Hernández Syndrome	Abnormal cerebellum morphology, Cerebellar vermis hypoplasia, Abnormal brainstem morphology	ORPHA:1532
Developmental And Epileptic Encephalopathy 5	Cerebellar atrophy, Reduced cerebral white matter volume, Microcephaly, Cerebral atrophy, Hypopla...	OMIM:613477
Nephrotic Syndrome, Type 2	Hyperlipidemia, Hypoalbuminemia	OMIM:600995
Pontocerebellar Hypoplasia Type 10	Abnormal brainstem morphology, Simplified gyral pattern, Abnormal cerebral cortex morphology	ORPHA:411493
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 6	Abnormality of neuronal migration, Hypoplasia of the brainstem, Cerebellar hypoplasia, Abnormal p...	OMIM:608840
Maternal Hyperthermia-Induced Birth Defects	Abnormality of neuronal migration, Microcephaly	ORPHA:2216
Focal Segmental Glomerulosclerosis 1	Hyperlipidemia, Hypoalbuminemia, Anemia	OMIM:603278
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-	Hepatomegaly, Splenomegaly, Thrombocytopenia, Hyperammonemia, Neutropenia, Pancreatitis, Anemia	ORPHA:79312
Alpha-Thalassemia-Myelodysplastic Syndrome	Microcytic anemia, Splenomegaly, Acute leukemia, Neutropenia, HbH hemoglobin, Thrombocytopenia	ORPHA:231401
Alg6-Cdg	Abnormality of the liver, Hypoalbuminemia, Decreased LDL cholesterol concentration, Jaundice	ORPHA:79320
Nephrotic Syndrome, Type 15	Hypoalbuminemia	OMIM:617609
Mismatch Repair Cancer Syndrome 4	Gray matter heterotopia, Agenesis of corpus callosum	OMIM:619101
Gastritis, Familial Giant Hypertrophic	Hypoproteinemia	OMIM:137280
Mpi-Cdg	Hepatomegaly, Portal hypertension, Hypoalbuminemia, Hepatic fibrosis, Decreased liver function	ORPHA:79319
Aicardi-Goutieres Syndrome 4	Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Splenomegaly, Hepatosplenomegaly, Thro...	OMIM:610333
Lissencephaly Due To Tuba1A Mutation	Dilated fourth ventricle, Cerebellar vermis hypoplasia, Agyria, Optic nerve hypoplasia, Microceph...	ORPHA:171680
Thrombocytopenia With Beta-Thalassemia, X-Linked	Hemolytic anemia, Reticulocytosis, Increased RBC distribution width, Increased mean platelet volu...	OMIM:314050
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency	Decreased HDL cholesterol concentration, Hypoalbuminemia, Hepatic steatosis, Hyperthreoninemia, H...	ORPHA:247598
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension	Thrombocytopenia	OMIM:166990
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly	Hepatomegaly, Thyroid lymphangiectasia, Splenomegaly, Pancreatic lymphangiectasis, Pulmonary lymp...	OMIM:235255
Diarrhea 7, Protein-Losing Enteropathy Type	Hypercholesterolemia, Hyperlipidemia, Hypoalbuminemia	OMIM:615863
Portal Hypertension, Noncirrhotic, 2	Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Nodular regenerative hyperplasi...	OMIM:619463
Macrothrombocytopenia, Isolated, 2, Autosomal Dominant	Macrothrombocytopenia	OMIM:619840
Band Heterotopia	Subcortical band heterotopia, Gray matter heterotopia, Macrocephaly, Polymicrogyria, Agenesis of ...	OMIM:600348
Congenital Disorder Of Glycosylation, Type Ih	Hepatomegaly, Thrombocytopenia, Elevated circulating creatinine concentration, Cholestasis, Hypoa...	OMIM:608104
Ménétrier Disease	Hypoproteinemia, Hypoalbuminemia, Hypochromic microcytic anemia	ORPHA:2494
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy	Hypoproteinemia	OMIM:221400
Fanconi Anemia, Complementation Group V	Elevated circulating alpha-fetoprotein concentration, Thrombocytopenia, Bone marrow hypocellulari...	OMIM:617243
Poretti-Boltshauser Syndrome	Dilated fourth ventricle, Cerebellar dysplasia, Cerebellar vermis hypoplasia, Gray matter heterot...	OMIM:615960
Congenital Disorder Of Glycosylation, Type Ib	Hepatomegaly, Hypoalbuminemia, Hepatic fibrosis, Cirrhosis, Hepatic failure, Lymphangiectasis	OMIM:602579
Pancreatic insufficiency, combined exocrine	Hypoproteinemia, Exocrine pancreatic insufficiency	OMIM:260450
Congenital Amegakaryocytic Thrombocytopenia	Thrombocytopenia, Abnormal hemoglobin, Anemia	ORPHA:3319
Erythroderma, Lethal Congenital	Hypoalbuminemia	OMIM:227090
Hydrops, Lactic Acidosis, And Sideroblastic Anemia	Sideroblastic anemia, Extramedullary hematopoiesis, Thrombocytopenia, Increased mean corpuscular ...	OMIM:617021
Liver Failure, Infantile, Transient	Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Microvesicular hepatic steato...	OMIM:613070
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy	Impaired lymphocyte transformation with phytohemagglutinin, Hypertriglyceridemia, Increased circu...	OMIM:619313
Muscle-Eye-Brain Disease With Bilateral Multicystic Leucodystrophy	Cerebellar vermis hypoplasia, Abnormal brainstem morphology, Abnormal pons morphology, Hypoplasia...	ORPHA:370997
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome	Hypoalbuminemia	ORPHA:88643
Lissencephaly 9 With Complex Brainstem Malformation	Cerebellar vermis hypoplasia, Microcephaly, Hypoplasia of the pons, Hypoplastic anterior commissu...	OMIM:618325
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0	Hepatomegaly, Thrombocytopenia, Hyperammonemia, Neutropenia, Pancreatitis, Anemia	ORPHA:289916
Autosomal Recessive Primary Microcephaly	Microcephaly, Gray matter heterotopia, Hypoplasia of the frontal lobes, Pachygyria, Agenesis of c...	ORPHA:2512
Diffuse Neonatal Hemangiomatosis	Hepatomegaly, Thrombocytopenia, Hypercalcemia, Anemia	ORPHA:2123
Chédiak-Higashi Syndrome	Vacuolated lymphocytes, Neutropenia, Abnormal natural killer cell morphology, Hyponatremia, Hepat...	ORPHA:167
Congenital Disorder Of Glycosylation, Type Ij	Elevated hepatic transaminase, Jaundice, Hypoproteinemia	OMIM:608093
Lissencephaly Syndrome, Norman-Roberts Type	Cerebellar atrophy, Cerebral calcification, 4-layered lissencephaly, Abnormality of neuronal migr...	ORPHA:89844
Preeclampsia	Elevated hepatic transaminase, Thrombocytopenia, Elevated circulating creatinine concentration, A...	ORPHA:275555
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency	Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Hepatosplenomegaly, Hypoalbumin...	ORPHA:367
Osteopetrosis, Autosomal Recessive 8	Splenomegaly, Hepatomegaly, Thrombocytopenia, Anemia	OMIM:615085
Ataxia-Intellectual Disability-Oculomotor Apraxia-Cerebellar Cysts Syndrome	Dilated fourth ventricle, Cerebellar dysplasia, Elongated superior cerebellar peduncle, Abnormal ...	ORPHA:370022
Sitosterolemia 1	Reticulocytosis, Hyperapobetalipoproteinemia, Splenomegaly, Elevated circulating sitosterol conce...	OMIM:210250
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome	Hepatomegaly, Splenomegaly, Pancreatic lymphangiectasis, Pulmonary lymphangiectasia, Hepatospleno...	ORPHA:1655
Nephrotic Syndrome, Type 1	Hypoproteinemia, Hyperlipidemia, Hypoalbuminemia	OMIM:256300
Congenital Toxoplasmosis	Elevated hepatic transaminase, Hepatomegaly, Jaundice, Lymphadenopathy, Anemia, Thrombocytopenia	ORPHA:858
Analbuminemia	Increased LDL cholesterol concentration, Hypercholesterolemia, Hypoalbuminemia, Elevated circulat...	OMIM:616000
Bleeding Disorder, Platelet-Type, 16	Thrombocytopenia, Giant platelets, Macrothrombocytopenia, Platelet anisocytosis, Impaired platele...	OMIM:187800
Coenzyme Q10 Deficiency, Primary, 3	Hypoalbuminemia	OMIM:614652
Nephrotic Syndrome, Type 9	Hypoalbuminemia	OMIM:615573
Focal Segmental Glomerulosclerosis 6	Hypoalbuminemia	OMIM:614131
Congenital Enterovirus Infection	Abnormal macrophage morphology, Thrombocytopenia, Leukocytosis, Hepatitis, Cholestasis, Hyperammo...	ORPHA:292
Polycythemia Vera	Splenomegaly, Leukocytosis, Increased hemoglobin, Increased red blood cell mass, Increased hemato...	OMIM:263300
Rhabdoid Tumor	Hypercalcemia, Lymphadenopathy, Anemia, Neoplasm of the liver, Thrombocytopenia	ORPHA:69077
Wolcott-Rallison Syndrome	Hyponatremia, Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Jaundice, Hyper...	ORPHA:1667
Immunodeficiency 97 With Autoinflammation	Autoimmune hemolytic anemia, Hypertriglyceridemia, Decreased proportion of CD4+CD25+ regulatory T...	OMIM:619802
Stormorken Syndrome	Howell-Jolly bodies, Elevated circulating creatine kinase concentration, Asplenia, Thrombocytopen...	OMIM:185070
Eosinophilia, Familial	Anemia, Leukocytosis, Eosinophilia, Thrombocytopenia	OMIM:131400
Vitamin B12-Unresponsive Methylmalonic Acidemia	Hepatomegaly, Macrocytic anemia, Thrombocytopenia, Hyperammonemia, Leukopenia, Pancreatitis, Anemia	ORPHA:27
Immunodeficiency 91 And Hyperinflammation	Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Neutrophilia, Elevated circul...	OMIM:619644
Spinocerebellar Ataxia With Axonal Neuropathy Type 1	Hypercholesterolemia, Hypoalbuminemia	ORPHA:94124
Very Long Chain Acyl-Coa Dehydrogenase Deficiency	Elevated hepatic transaminase, Hepatomegaly, Elevated circulating creatine kinase concentration, ...	ORPHA:26793
Ravine Syndrome	Abnormal brainstem morphology, Abnormal basal ganglia morphology, Atrophy/Degeneration affecting ...	ORPHA:99852
Babesiosis	Hepatomegaly, Hemolytic anemia, Splenomegaly, Jaundice, Leukopenia, Hepatic failure, Thrombocytop...	ORPHA:108
Gaucher Disease, Type Iii	Splenomegaly, Hepatomegaly, Pancytopenia, Thrombocytopenia	OMIM:231000
Sea-Blue Histiocytosis	Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Sea-blue histiocytosis, Thrombocytopenia	ORPHA:158029
Hemimegalencephaly	Pachygyria, Hemimegalencephaly, Gray matter heterotopia, Macrocephaly, Hyperintensity of cerebral...	ORPHA:99802
Neurodevelopmental Disorder With Spasticity, Hypomyelinating Leukodystrophy, And Brain Abnormalities	Perisylvian polymicrogyria, Cerebellar vermis hypoplasia, Cerebellar hypoplasia, Cerebellar dyspl...	OMIM:616531
Pyruvate Dehydrogenase E1-Beta Deficiency	Periventricular heterotopia, Periventricular cysts, Hypoplasia of the brainstem, Cerebellar hypop...	ORPHA:255138
Griscelli Syndrome	Hepatomegaly, Abnormality of neutrophils, Splenomegaly, Jaundice, Hepatitis, Lymphadenopathy, Leu...	ORPHA:381
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1	Hypercholesterolemia, Hypoalbuminemia	OMIM:607250
Infantile Spasms-Psychomotor Retardation-Progressive Brain Atrophy-Basal Ganglia Disease Syndrome	Abnormal brainstem MRI signal intensity, Abnormal basal ganglia morphology, Small basal ganglia	ORPHA:263410
Dehydrated Hereditary Stomatocytosis 2	Hepatomegaly, Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Jaundice, Increase...	OMIM:616689
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1	Cerebellar vermis hypoplasia, Microcephaly, Hypoplasia of the brainstem, Cerebellar hypoplasia, H...	OMIM:613155
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive	Elevated hepatic transaminase, Decreased circulating ceruloplasmin concentration, Decreased circu...	OMIM:242150
Intellectual Developmental Disorder, Autosomal Dominant 48	Dilated fourth ventricle, Cerebellar vermis hypoplasia, Microcephaly, Recurrent pneumonia, Hypopl...	OMIM:617751
Bleeding Disorder, Platelet-Type, 24	Increased mean platelet volume, Thrombocytopenia, Impaired ADP-induced platelet aggregation, Plat...	OMIM:619271
Refractory Anemia	Normocytic anemia, Macrocytic anemia, Anemia of inadequate production, Erythroid hypoplasia, Norm...	ORPHA:98826
Hemangioma-Thrombocytopenia Syndrome	Hyperkalemia, Microangiopathic hemolytic anemia, Thrombocytopenia	OMIM:141000
Cog4-Cdg	Elevated hepatic transaminase, Fatal liver failure in infancy, Hepatosplenomegaly, Cirrhosis, Hyp...	ORPHA:263501
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2	Acute myeloid leukemia, Pancytopenia, Anemia, Increased mean corpuscular volume, Bone marrow hypo...	OMIM:619041
Developmental And Epileptic Encephalopathy 99	Cerebellar atrophy, Microcephaly, Perisylvian polymicrogyria, Thick corpus callosum, Frontotempor...	OMIM:619606
S-Adenosylhomocysteine Hydrolase Deficiency	Elevated hepatic transaminase, Elevated circulating creatine kinase concentration, Abnormal circu...	ORPHA:88618
Primary Myelofibrosis	Hepatomegaly, Pancytopenia, Extramedullary hematopoiesis, Portal hypertension, Splenomegaly, Leuk...	ORPHA:824
Johanson-Blizzard Syndrome	Abnormality of the pancreas, Hypoproteinemia, Anemia, Exocrine pancreatic insufficiency	ORPHA:2315
Bleeding Disorder, Platelet-Type, 19	Thrombocytopenia, Macrothrombocytopenia, Anemia	OMIM:616176
Chronic Myeloid Leukemia	Splenomegaly, Leukocytosis, Abnormal granulocyte morphology, Myeloproliferative disorder, Thrombo...	ORPHA:521
Vici Syndrome	Recurrent respiratory infections, Hypoplasia of the pons, Decreased circulating IgG2 level, Recur...	ORPHA:1493
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy	Elevated circulating aspartate aminotransferase concentration, Conjugated hyperbilirubinemia, Int...	OMIM:617093
Osteopetrosis, Autosomal Recessive 4	Hepatomegaly, Reticulocytosis, Splenomegaly, Thrombocytopenia, Anemia	OMIM:611490
Deafness, Autosomal Dominant 1, With Or Without Thrombocytopenia	Impaired platelet aggregation, Macrothrombocytopenia, Thrombocytopenia	OMIM:124900
Bone Marrow Failure Syndrome 2	Leukopenia, Thrombocytopenia, Bone marrow hypocellularity, Anemia	OMIM:615715
Caroli Syndrome	Liver abscess, Cholangitis, Conjugated hyperbilirubinemia, Abnormal intrahepatic bile duct morpho...	ORPHA:480520
Microphthalmia-Brain Atrophy Syndrome	Diffuse cerebral atrophy, Microcephaly, Corpus callosum atrophy, Abnormal pons morphology, Atroph...	ORPHA:77299
Primary Membranoproliferative Glomerulonephritis	Hypoalbuminemia	ORPHA:54370
Congenital Analbuminemia	Hyperlipidemia, Increased alpha-globulin, Hypoalbuminemia, Hypercholesterolemia, Hypoproteinemia	ORPHA:86816
Nephrotic Syndrome, Type 22	Hypoproteinemia	OMIM:619155
Pontocerebellar Hypoplasia, Type 15	Thrombocytopenia, Chronic neutropenia, Anemia	OMIM:619302
Autoimmune Lymphoproliferative Syndrome, Type Iia	Hepatomegaly, Autoimmune hemolytic anemia, Eosinophilia, Chronic noninfectious lymphadenopathy, A...	OMIM:603909
Neonatal Lupus Erythematosus	Elevated hepatic transaminase, Hepatomegaly, Hemolytic anemia, Pancytopenia, Aplastic anemia, Spl...	ORPHA:398124
Non-Involuting Congenital Hemangioma	Hepatic hemangioma, Thrombocytopenia	ORPHA:141179
Sickle Cell Anemia	Pigment gallstones, Hemolytic anemia, Reticulocytosis, Microcytic anemia, Abnormality of the sple...	ORPHA:232
Thrombocytopenia, Anemia, And Myelofibrosis	Anemia, Splenomegaly, Anisopoikilocytosis, Thrombocytopenia	OMIM:617441
Chylomicron Retention Disease	Hypotriglyceridemia, Hypoalbuminemia, Decreased LDL cholesterol concentration, Hypocholesterolemia	OMIM:246700
Platelet Signal Processing Defect	Impaired collagen-induced platelet aggregation, Impaired ADP-induced platelet aggregation, Thromb...	OMIM:173590
Brain Small Vessel Disease 2	Subcortical heterotopia, Schizencephaly, Porencephalic cyst, Polymicrogyria	OMIM:614483
Avian Influenza	Elevated hepatic transaminase, Elevated circulating creatine kinase concentration, Elevated circu...	ORPHA:454836
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type	Abnormality of neuronal migration, Microcephaly	ORPHA:2204
Acute Myelomonocytic Leukemia	Thrombocytopenia, Leukocytosis, Eosinophilia, Anemia	ORPHA:517
Wilson Disease	Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Splenomegaly, Jaundice, Throm...	ORPHA:905
Relapsing Fever	Elevated hepatic transaminase, Neutrophilia, Elevated circulating C-reactive protein concentratio...	ORPHA:91547
Congenital Disorder Of Glycosylation, Type Iii	Cerebellar atrophy, Atrophy/Degeneration affecting the brainstem, Cerebral atrophy, Microcephaly	OMIM:613612
Pontocerebellar Hypoplasia, Type 14	Chronic neutropenia, Thrombocytopenia	OMIM:619301
Fanconi Anemia, Complementation Group G	Thrombocytopenia, Leukemia, Anemia, Neutropenia	OMIM:614082
Deafness-Lymphedema-Leukemia Syndrome	Hepatomegaly, Abnormal neutrophil count, Splenomegaly, Leukocytosis, Acute leukemia, Lymphadenopa...	ORPHA:3226
Congenital Enterocyte Heparan Sulfate Deficiency	Abnormal circulating protein concentration, Abnormal circulating polysaccharide concentration, Hy...	ORPHA:103910
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss	Leukocyte inclusion bodies, Impaired ADP-induced platelet aggregation, Macrothrombocytopenia, Gia...	OMIM:155100
Acalvaria	Aplasia/Hypoplasia of the cerebellum, Abnormality of neuronal migration	ORPHA:945
Forsythe-Wakeling Syndrome	Thrombocytopenia	OMIM:613606
Congenital Lethal Erythroderma	Hypoalbuminemia	ORPHA:1954
Gamma-Heavy Chain Disease	Hepatomegaly, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Thrombocyto...	ORPHA:100026
Joubert Syndrome 32	Molar tooth sign on MRI, Abnormal cerebellum morphology, Polymicrogyria, Macrocephaly	OMIM:617757
Alg1-Cdg	Hypoalbuminemia, Decreased liver function	ORPHA:79327
Fetal Gaucher Disease	Hepatomegaly, Pancytopenia, Splenomegaly, Abnormality of the spleen, Thrombocytopenia	ORPHA:85212
Fibronectin Glomerulopathy	Hypoalbuminemia	ORPHA:84090
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome	Aplasia/Hypoplasia of the cerebellum, Abnormality of neuronal migration, Microcephaly	ORPHA:2772
Rapidly Involuting Congenital Hemangioma	Hepatic hemangioma, Thrombocytopenia	ORPHA:141184
Eosinophilic Gastroenteritis	Eosinophilia, Elevated circulating C-reactive protein concentration, Leukocytosis, Hypoalbuminemi...	ORPHA:2070
Immunodeficiency 98 With Autoinflammation, X-Linked	Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Lymphadenopathy, B lymphocytopenia, Hemo...	OMIM:301078
Developmental Delay, Behavioral Abnormalities, And Neuropsychiatric Disorders	Periventricular nodular heterotopia, Macrocephaly	OMIM:620065
Galloway-Mowat Syndrome 8	Hypoalbuminemia	OMIM:618349
Thrombotic Thrombocytopenic Purpura	Decreased serum creatinine, Reticulocytosis, Microangiopathic hemolytic anemia, Thrombocytopenia	ORPHA:54057
Primary Biliary Cholangitis	Portal hypertension, Conjugated hyperbilirubinemia, Jaundice, Hepatic failure, Biliary cirrhosis,...	ORPHA:186
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7	Agyria, Subcortical heterotopia, Optic nerve hypoplasia, Type II lissencephaly, Partial agenesis ...	OMIM:614643
Wilson Disease	Acute hepatic failure, Decreased circulating ceruloplasmin concentration, Hypoalbuminemia, Hepati...	OMIM:277900
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome	Intermittent thrombocytopenia, Abnormal CD4:CD8 ratio, Splenomegaly, Lymphadenopathy, B lymphocyt...	OMIM:150550
Mucopolysaccharidosis-Plus Syndrome	Hepatomegaly, Splenomegaly, Thrombocytopenia, Leukopenia, Hypoalbuminemia, Macrovesicular hepatic...	OMIM:617303
Atypical Hemolytic Uremic Syndrome	Microangiopathic hemolytic anemia, Thrombocytopenia	ORPHA:2134
Immunodeficiency 47	Accessory spleen, Hepatomegaly, Elevated hepatic transaminase, Normocytic anemia, Decreased circu...	OMIM:300972
Ataxia-Pancytopenia Syndrome	Pancytopenia, Acute myelomonocytic leukemia, Anemia, Neutropenia, Hypoplastic anemia, Thrombocyto...	OMIM:159550
Platelet Glycoprotein Iv Deficiency	Giant platelets, Thrombocytopenia	OMIM:608404
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)	Hypertyrosinemia, Elevated hepatic transaminase, Conjugated hyperbilirubinemia, Microvesicular he...	OMIM:617156
Fetal Parvovirus Syndrome	Thrombocytopenia, Anemia	ORPHA:295
Transaldolase Deficiency	Hepatomegaly, Pancytopenia, Splenomegaly, Micronodular cirrhosis, Thrombocytopenia, Hepatosplenom...	OMIM:606003
3-Methylglutaconic Aciduria Type 4	Decreased liver function, Thrombocytopenia	ORPHA:67048
Congenital Disorder Of Glycosylation, Type Iil	Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Elevated circulating creatine kinase c...	OMIM:614576
Bleeding Disorder, Platelet-Type, 15	Thrombocytopenia, Platelet anisocytosis, Increased mean platelet volume	OMIM:615193
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency	Methylmalonic acidemia, Hepatomegaly, Hyperammonemia, Leukopenia, Hyperglycinemia, Neutropenia, P...	OMIM:251000
Joubert Syndrome 25	Molar tooth sign on MRI, Cerebellar hypoplasia	OMIM:616781
Intellectual Developmental Disorder, X-Linked 12	Cerebellar vermis hypoplasia, Microcephaly, Abnormal cerebellum morphology, Abnormality of neuron...	OMIM:300957
Intermediate Osteopetrosis	Thrombocytopenia, Hypocalcemia, Anemia, Hepatosplenomegaly	ORPHA:210110
Chronic Bilirubin Encephalopathy	Hemolytic anemia, Hypoalbuminemia, Prolonged neonatal jaundice, Hypernatremia, Neonatal hyperbili...	ORPHA:529808
Acute Bilirubin Encephalopathy	Hemolytic anemia, Hypoalbuminemia, Prolonged neonatal jaundice, Hypernatremia, Neonatal hyperbili...	ORPHA:529799
Proteasome-Associated Autoinflammatory Syndrome 2	Increased CD4:CD8 ratio, Elevated circulating C-reactive protein concentration, Lymphadenopathy, ...	OMIM:618048
Walker-Warburg Syndrome	Absent septum pellucidum, Abnormal cortical gyration, Microcephaly, Polymicrogyria, Abnormality o...	ORPHA:899
Congenital Rubella Syndrome	Hepatomegaly, Splenomegaly, Jaundice, Anemia, Thrombocytopenia	ORPHA:290
Aggressive Systemic Mastocytosis	Pancytopenia, Portal hypertension, Hypersplenism, Thrombocytopenia, Leukocytosis, Hepatosplenomeg...	ORPHA:98850
Anemia, Sideroblastic, 5	Thrombocytopenia, Hypochromic microcytic anemia, Reduced hematocrit, Neutropenia, Anemia	OMIM:619523
Roch-Leri Mesosomatous Lipomatosis	Thrombocytopenia	ORPHA:529
Leber Congenital Amaurosis	Abnormality of neuronal migration, Aplasia/Hypoplasia of the cerebellar vermis	ORPHA:65
Pseudo-Von Willebrand Disease	Intermittent thrombocytopenia	OMIM:177820
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1	Acute myeloid leukemia, Increased mean corpuscular volume, Thrombocytopenia	OMIM:252270
Mevalonic Aciduria	Elevated hepatic transaminase, Normocytic hypoplastic anemia, Elevated circulating creatine kinas...	OMIM:610377
Hypomelanosis Of Ito	Gray matter heterotopia, Macrocephaly, Cerebral atrophy, Microcephaly	OMIM:300337
Cernunnos-Xlf Deficiency	Anemia, T lymphocytopenia, B lymphocytopenia, Lymphopenia, Thrombocytopenia	ORPHA:169079
Thrombocytopenia 4	Abnormal platelet volume, Thrombocytopenia	OMIM:612004
Idiopathic Steroid-Resistant Nephrotic Syndrome	Hypertriglyceridemia, Peritonitis, Hypoalbuminemia, Hypercholesterolemia, Abnormal circulating li...	ORPHA:567548
Dk Phocomelia Syndrome	Thrombocytopenia	OMIM:223340
Drug-Induced Lupus Erythematosus	Elevated circulating creatine kinase concentration, Elevated circulating C-reactive protein conce...	ORPHA:231111
Nephrotic Syndrome, Type 3	Hypoalbuminemia	OMIM:610725
Trichohepatoenteric Syndrome 1	Hepatomegaly, Increased mean platelet volume, Abnormality of the pancreas, Splenomegaly, Jaundice...	OMIM:222470
Folate Malabsorption, Hereditary	Leukopenia, Folate-responsive megaloblastic anemia, Thrombocytopenia, Neutropenia	OMIM:229050
Propionic Acidemia	Hepatomegaly, Pancytopenia, Thrombocytopenia, Hyperammonemia, Hyperglycinemia, Neutropenia, Pancr...	OMIM:606054
Fanconi Anemia, Complementation Group T	Acute myeloid leukemia, Pancytopenia, Thrombocytopenia, Bone marrow hypocellularity, Anemia	OMIM:616435
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom	Microcephaly, Recurrent pneumonia, Hypoplasia of the brainstem, Cerebellar hypoplasia, Hypoplasia...	ORPHA:500159
Autosomal Recessive Chorioretinopathy-Microcephaly Syndrome	Microcephaly, Abnormality of neuronal migration, Biparietal narrowing, Aplasia/Hypoplasia of the ...	ORPHA:2518
Liver Disease, Severe Congenital	Biliary hyperplasia, Leukopenia, Hypocalcemia, Lymphocytosis, Elevated hepatic iron concentration...	OMIM:619991
Primary Sclerosing Cholangitis	Acute hepatic failure, Abnormal eosinophil morphology, Hypoalbuminemia, Hepatic fibrosis, Neoplas...	ORPHA:171
Nephrotic Syndrome, Type 6	Hypoalbuminemia	OMIM:614196
Diaph1-Related Sensorineural Hearing Loss-Thrombocytopenia Syndrome	Iron deficiency anemia, Thrombocytopenia, Increased mean platelet volume, Neutropenia	ORPHA:494444
Aicardi-Goutieres Syndrome 9	Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Hemolytic anemia, Portal hyperte...	OMIM:619487
Wiskott-Aldrich Syndrome 2	Decreased proportion of CD8-positive T cells, Thrombocytopenia	OMIM:614493
Giant platelet syndrome with thrombocytopenia	Giant platelets, Thrombocytopenia	OMIM:137560
Proteasome-Associated Autoinflammatory Syndrome 3	Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Thrombocytopenia...	OMIM:617591
Genetic Steroid-Resistant Nephrotic Syndrome	Peritonitis, Hypoalbuminemia	ORPHA:656
Generalized Pustular Psoriasis	Hyponatremia, Elevated hepatic transaminase, Elevated circulating C-reactive protein concentratio...	ORPHA:247353
Transcobalamin Deficiency	Pancytopenia, Lymphopenia, Thrombocytopenia, Neutropenia	ORPHA:859
Galloway-Mowat Syndrome 6	Hypoalbuminemia	OMIM:618347
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia	Hypercholesterolemia, Hypoalbuminemia, Elevated circulating creatine kinase concentration	OMIM:208920
Methylmalonic Aciduria, Cblb Type	Methylmalonic acidemia, Hepatomegaly, Pancytopenia, Thrombocytopenia, Hyperammonemia, Hyperglycin...	OMIM:251110
X-Linked Cerebral-Cerebellar-Coloboma Syndrome	Agenesis of cerebellar vermis, Cerebellar vermis hypoplasia, Abnormal brainstem morphology, Abnor...	ORPHA:163961
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency	Hepatomegaly, Pancytopenia, Megaloblastic anemia, Jaundice, Increased mean corpuscular volume, Th...	OMIM:613839
Isolated Agammaglobulinemia	Abnormality of the tonsils, Abnormality of neutrophils, Thrombocytopenia, Abnormality of the lymp...	ORPHA:229717
Systemic Lupus Erythematosus 17	Leukopenia, Lymphopenia, Thrombocytopenia, Autoimmune thrombocytopenia	OMIM:301080
Acquired Purpura Fulminans	Thrombocytopenia, Hepatic failure, Elevated circulating C-reactive protein concentration	ORPHA:49566
X-Linked Agammaglobulinemia	Abnormality of the tonsils, Abnormality of the lymphatic system, Hepatitis, Anemia, Hypocalcemia,...	ORPHA:47
Acyl-Coa Dehydrogenase 9 Deficiency	Acute hepatic failure, Elevated hepatic transaminase, Elevated circulating acylcarnitine concentr...	ORPHA:99901
Dyskeratosis Congenita, Autosomal Recessive 2	Thrombocytopenia, Pancytopenia, Bone marrow hypocellularity, Cirrhosis	OMIM:613987
Amoebiasis Due To Entamoeba Histolytica	Elevated hepatic transaminase, Liver abscess, Leukocytosis, Hypoalbuminemia, Anemia	ORPHA:67
Bernard-Soulier Syndrome	Thrombocytopenia, Giant platelets, Macrothrombocytopenia, Impaired ristocetin-induced platelet ag...	OMIM:231200
Wt Limb-Blood Syndrome	Thrombocytopenia, Pancytopenia, Hypoplastic anemia, Leukemia	OMIM:194350
Subependymal Nodular Heterotopia	Partial agenesis of the corpus callosum, Abnormality of neuronal migration, Gray matter heterotop...	ORPHA:101030
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Elevated hepatic transaminase, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenome...	ORPHA:37042
Gaucher Disease, Type I	Hepatomegaly, Pancytopenia, Hypersplenism, Splenomegaly, Anemia, Thrombocytopenia	OMIM:230800
Pseudo-Torch Syndrome 3	Increased circulating ferritin concentration, Leukocytosis, Lymphadenitis, Congenital thrombocyto...	OMIM:618886
Ataxia-Oculomotor Apraxia 4	Hypercholesterolemia, Hypoalbuminemia, Elevated circulating alpha-fetoprotein concentration	OMIM:616267
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency	Elevated hepatic transaminase, Hepatomegaly, Abnormal B cell count, Abnormal T cell count, Autoim...	ORPHA:331206
Castleman Disease	Generalized lymphadenopathy, Elevated circulating C-reactive protein concentration, Follicular hy...	ORPHA:160
Lennox-Gastaut Syndrome	Abnormal brainstem morphology	ORPHA:2382
Osteopetrosis, Autosomal Recessive 1	Hepatomegaly, Pancytopenia, Splenomegaly, Anemia, Hypocalcemia, Thrombocytopenia	OMIM:259700
Bleeding Disorder, Platelet-Type, 20	Thrombocytopenia	OMIM:616913
Von Willebrand Disease, Type 2	Thrombocytopenia	OMIM:613554
Thrombotic Thrombocytopenic Purpura, Hereditary	Reticulocytosis, Jaundice, Schistocytosis, Elevated circulating creatinine concentration, Increas...	OMIM:274150
Cerebral Palsy, Spastic Quadriplegic, 3	Gray matter heterotopia, Microcephaly	OMIM:617008
Moyamoya Disease With Early-Onset Achalasia	Abnormal platelet aggregation, Thrombocytopenia	ORPHA:401945
Gray Platelet Syndrome	Impaired thrombin-induced platelet aggregation, Abnormal number of alpha granules, Splenomegaly, ...	OMIM:139090
Immunodeficiency With Hyper-Igm, Type 1	Hepatomegaly, Hemolytic anemia, Absence of lymph node germinal center, Splenomegaly, Enlarged ton...	OMIM:308230
Combined Oxidative Phosphorylation Deficiency 37	Elevated hepatic transaminase, Hypoalbuminemia, Macrovesicular hepatic steatosis, Decreased liver...	OMIM:618329
Thrombocytopenia 5	B Acute Lymphoblastic Leukemia, Anemia, Increased mean corpuscular volume, Neutropenia, Thrombocy...	OMIM:616216
Tularemia	Mediastinal lymphadenopathy, Leukocytosis, Abnormal nasopharyngeal adenoid morphology, Cervical l...	ORPHA:3392
Tetrasomy 18P	Abnormality of neuronal migration, Microcephaly	ORPHA:3307
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome	Hyponatremia, Pancytopenia, Hypomagnesemia, Thrombocytopenia, Leukopenia, Hyperuricemia, Increase...	OMIM:613845
Spinocerebellar Ataxia With Axonal Neuropathy Type 2	Hypercholesterolemia, Hypoalbuminemia, Elevated circulating creatine kinase concentration, Elevat...	ORPHA:64753
Neurocutaneous Melanocytosis	Abnormality of neuronal migration, Chiari malformation, Aplasia/Hypoplasia of the cerebellum, Inf...	ORPHA:2481
Abetalipoproteinemia	Elevated hepatic transaminase, Decreased HDL cholesterol concentration, Hepatomegaly, Reticulocyt...	ORPHA:14
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant	Hemolytic anemia, Increased mean platelet volume, Splenomegaly, Thrombocytopenia, Impaired ADP-in...	OMIM:153670
20Q11.2 Microdeletion Syndrome	Brainstem dysplasia	ORPHA:444051
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked	Eosinophilia, Autoimmune thrombocytopenia, Hepatitis, Lymphadenopathy, Anemia, Coombs-positive he...	OMIM:304790
Reni Syndrome	Lymphopenia, Hypertriglyceridemia, Hypoalbuminemia	OMIM:617575
Gaucher Disease Type 1	Hepatomegaly, Pancytopenia, Hypersplenism, Splenomegaly, Thrombocytopenia, Leukopenia, Cirrhosis,...	ORPHA:77259
Arthrogryposis, Renal Dysfunction, And Cholestasis 1	Elevated hepatic transaminase, Giant cell hepatitis, Conjugated hyperbilirubinemia, Hepatic melan...	OMIM:208085
Bone Marrow Failure Syndrome 4	Leukopenia, Thrombocytopenia, Bone marrow hypocellularity, Anemia	OMIM:618116
Mitochondrial Complex Iii Deficiency, Nuclear Type 10	Cholelithiasis, Normochromic anemia, Elevated circulating creatine kinase concentration, Thromboc...	OMIM:618775
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome	Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Abnormal lymphocyte count, Portal hype...	ORPHA:79124
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities	Macrocytic anemia, Anisocytosis, Elliptocytosis, Bone marrow hypocellularity, Poikilocytosis, Neu...	OMIM:300835
Gracile Bone Dysplasia	Asplenia, Hypoplastic spleen, Hypocalcemia	OMIM:602361
Oculocerebrocutaneous Syndrome	Gray matter heterotopia, Agenesis of corpus callosum, Hypoplasia of the corpus callosum, Dandy-Wa...	OMIM:164180
Bacterial Toxic-Shock Syndrome	Elevated circulating creatine kinase concentration, Peritonitis, Elevated circulating creatinine ...	ORPHA:36234
Alkuraya-Kucinskas Syndrome	Aplasia/Hypoplasia of the corpus callosum, Gray matter heterotopia, Hypoplasia of the brainstem, ...	OMIM:617822
Felty Syndrome	Hepatomegaly, Splenomegaly, Thrombocytopenia, Lymphadenopathy, Bone marrow hypocellularity, Neutr...	ORPHA:47612
Prolidase Deficiency	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Splenomegaly, Thromb...	OMIM:170100
Phosphoglycerate Dehydrogenase Deficiency	Thrombocytopenia, Megaloblastic anemia	OMIM:601815
Immunodeficiency 46	Neutropenia, Anemia, Intermittent thrombocytopenia	OMIM:616740
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development	Hypoplasia of the pons, Abnormality of the anterior commissure, Agenesis of corpus callosum, Midl...	OMIM:617542
Wolfram Syndrome, Mitochondrial Form	Sideroblastic anemia, Neutropenia, Thrombocytopenia, Megaloblastic anemia	OMIM:598500
Methylmalonic Aciduria And Homocystinuria, Cblj Type	Methylmalonic acidemia, Hypomethioninemia, Hyperhomocystinemia, Normochromic anemia, Elevated cir...	OMIM:614857
Spinocerebellar Ataxia Type 1	Cerebellar atrophy, Loss of Purkinje cells in the cerebellar vermis, Abnormal brainstem morpholog...	ORPHA:98755
Developmental Delay With Variable Neurologic And Brain Abnormalities	Gray matter heterotopia, Thin corpus callosum, Microcephaly	OMIM:619694
Al Amyloidosis	Hepatomegaly, Increased circulating NT-proBNP concentration, Howell-Jolly bodies, Abnormality of ...	ORPHA:85443
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2	Thrombocytopenia, Congenital thrombocytopenia, Anemia, Neutropenia	OMIM:616738
Boutonneuse Fever	Elevated hepatic transaminase, Cervical lymphadenopathy, Lymphadenopathy, Leukopenia, Thrombocyto...	ORPHA:83313
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3	Elevated circulating creatinine concentration, Anemia, Microangiopathic hemolytic anemia, Increas...	OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2	Elevated circulating creatinine concentration, Anemia, Microangiopathic hemolytic anemia, Increas...	OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6	Elevated circulating creatinine concentration, Anemia, Microangiopathic hemolytic anemia, Increas...	OMIM:612926
Isovaleric Acidemia	Leukopenia, Pancytopenia, Bone marrow hypocellularity, Thrombocytopenia	OMIM:243500
Letterer-Siwe Disease	Jaundice, Hepatosplenomegaly, Anemia, Neutropenia, Thrombocytopenia	OMIM:246400
Combined Immunodeficiency Due To Crac Channel Dysfunction	Hepatomegaly, Hemolytic anemia, Splenomegaly, Lymphadenopathy, Thrombocytopenia	ORPHA:169090
Myh9-Related Disease	Elevated hepatic transaminase, Increased mean platelet volume, Giant platelets, Neutrophil inclus...	ORPHA:182050
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4	Elevated circulating creatinine concentration, Anemia, Microangiopathic hemolytic anemia, Increas...	OMIM:612924
Mirage Syndrome	Hyponatremia, Thrombocytopenia, Hyperkalemia, Leukopenia, Hypoplastic spleen, Lymphopenia, Anemia	OMIM:617053
Glutathionuria	Gray matter heterotopia, Agenesis of corpus callosum	OMIM:231950
Methylmalonic Aciduria, Cbla Type	Methylmalonic acidemia, Hepatomegaly, Pancytopenia, Thrombocytopenia, Hyperammonemia, Hyperglycin...	OMIM:251100
Slc35A1-Cdg	Giant platelets, Abnormal platelet granules, Thrombocytopenia, Neutropenia	ORPHA:238459
Congenital Disorder Of Glycosylation, Type Ia	Elevated hepatic transaminase, Hepatomegaly, Hypoalbuminemia, Hepatic fibrosis, Hypocholesterolem...	OMIM:212065
Cyclic Neutropenia	Cyclic neutropenia, Peritonitis, Cervical lymphadenopathy, Recurrent tonsillitis, Lymphadenopathy...	ORPHA:2686
Methylmalonic Aciduria And Homocystinuria, Cblf Type	Methylmalonic acidemia, Hepatomegaly, Pancytopenia, Megaloblastic anemia, Thrombocytopenia, Hyper...	OMIM:277380
Amed Syndrome, Digenic	Acute myeloid leukemia, Anemia, Leukopenia, Bone marrow hypocellularity, Thrombocytopenia	OMIM:619151
Immunodeficiency 40	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating...	OMIM:616433
Pearson Syndrome	Abnormality of the liver, Hypocalcemia, Neutropenia, Hepatic steatosis, Hepatomegaly, Reticulocyt...	ORPHA:699
Thrombocytopenia With Congenital Dyserythropoietic Anemia	Anisocytosis, Anemia of inadequate production, Macrothrombocytopenia, Poikilocytosis, Hypochromic...	ORPHA:67044
Sepsis In Premature Infants	Hepatomegaly, Elevated circulating C-reactive protein concentration, Splenomegaly, Jaundice, Leuk...	ORPHA:90051
Thrombocytopenia With Elevated Serum Iga And Renal Disease	Thrombocytopenia	OMIM:314000
Noonan Syndrome 12	Lymphopenia, Thrombocytopenia	OMIM:618624
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5	Elevated circulating creatinine concentration, Anemia, Microangiopathic hemolytic anemia, Increas...	OMIM:612925
Pseudo-Torch Syndrome 1	Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Jaundice, Decreased liver function, Th...	OMIM:251290
Chediak-Higashi Syndrome	Impaired neutrophil bactericidal activity, Hepatomegaly, Abnormal dense granules, Splenomegaly, J...	OMIM:214500
Thyrocerebrorenal Syndrome	Thrombocytopenia	ORPHA:3327
Alpha-N-Acetylgalactosaminidase Deficiency Type 1	Aplasia/Hypoplasia of the cerebellum, Abnormal brainstem morphology	ORPHA:79279
Autoinflammatory Syndrome, Familial, Behcet-Like 1	Hemolytic anemia, Lymphopenia, Thrombocytopenia	OMIM:616744
Overlap Myositis	Elevated hepatic transaminase, Elevated circulating creatine kinase concentration, Leukopenia, Ab...	ORPHA:206572
Stuve-Wiedemann Syndrome 2	Thrombocytopenia	OMIM:619751
Systemic Mastocytosis With Associated Hematologic Neoplasm	Normocytic anemia, Hepatomegaly, Acute myeloid leukemia, Neutrophilia, Eosinophilia, Splenomegaly...	ORPHA:98849
Lysinuric Protein Intolerance	Hepatomegaly, Hypolysinemia, Increased circulating ferritin concentration, Splenomegaly, Thromboc...	OMIM:222700
Pearson Marrow-Pancreas Syndrome	Elevated hepatic transaminase, Hepatomegaly, Sideroblastic anemia, Pancytopenia, Pancreatic fibro...	OMIM:557000
Nephrotic Syndrome, Type 11	Hypercholesterolemia, Hypoalbuminemia	OMIM:616730
Nephrotic Syndrome, Type 8	Hypoalbuminemia	OMIM:615244
Chronic Visceral Acid Sphingomyelinase Deficiency	Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Autoimmune thrombocy...	ORPHA:77293
Periventricular Nodular Heterotopia 7	Cortical dysplasia, Gray matter heterotopia, Hypoplasia of the corpus callosum, Periventricular n...	OMIM:617201
Immunodeficiency 10	Autoimmune hemolytic anemia, Thrombocytopenia, Lymphadenopathy	OMIM:612783
Combined Oxidative Phosphorylation Deficiency 14	Copper accumulation in liver, Anemia, Elevated hepatic iron concentration, Increased hepatic glyc...	OMIM:614946
Osteopetrosis, Autosomal Recessive 5	Hepatomegaly, Pancytopenia, Extramedullary hematopoiesis, Splenomegaly, Leukocytosis, Thrombocyto...	OMIM:259720
Aregenerative Anemia	Pancytopenia, Erythroid hypoplasia, Reticulocytopenia, Lymphadenopathy, Bone marrow hypocellulari...	ORPHA:101096
Bleeding Disorder, Platelet-Type, 21	Thrombocytopenia, Impaired ADP-induced platelet aggregation, Impaired platelet aggregation, Incre...	OMIM:617443
Osteopetrosis, Autosomal Recessive 2	Pancytopenia, Extramedullary hematopoiesis, Hepatosplenomegaly, Anemia, Thrombocytopenia	OMIM:259710
Joubert Syndrome With Oculorenal Defect	Cerebellar vermis hypoplasia, Abnormality of neuronal migration, Aplasia/Hypoplasia of the corpus...	ORPHA:2318
Lysinuric Protein Intolerance	Decreased HDL cholesterol concentration, Leukopenia, Hepatomegaly, Abnormal circulating serine co...	ORPHA:470
Macrothrombocytopenia, Isolated, 1, Autosomal Dominant	Impaired platelet aggregation, Macrothrombocytopenia	OMIM:613112
Atelis Syndrome 1	Leukopenia, Thrombocytopenia, Anemia	OMIM:620184
Platelet Disorder, Familial, With Associated Myeloid Malignancy	Acute myeloid leukemia, Acute monocytic leukemia, Impaired platelet aggregation, Abnormal dense g...	OMIM:601399
Tangier Disease	Orange discolored tonsils, Hypertriglyceridemia, Chronic noninfectious lymphadenopathy, Hepatospl...	ORPHA:31150
Congenital Disorder Of Glycosylation, Type Iif	Decreased platelet glycoprotein Ib, Macrothrombocytopenia, Thrombocytopenia, Neutropenia	OMIM:603585
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure	Normochromic anemia, Hypoalbuminemia, Thrombocytopenia	OMIM:254900
Specific Granule Deficiency 2	Absent neutrophil specific granules, Thrombocytopenia, Anemia, Neutropenia	OMIM:617475
Pseudo-Torch Syndrome 2	Cerebral calcification, Microcephaly, Gray matter heterotopia, Cerebellar hypoplasia, Polymicrogyria	OMIM:617397
Shwachman-Diamond Syndrome	Normocytic anemia, Transient neutropenia, Aplastic anemia, Leukopenia, Neutropenia, Pancreatic hy...	ORPHA:811
Idiopathic Aplastic Anemia	Pancytopenia, Reticulocytopenia, Anemia, Bone marrow hypocellularity, Neutropenia, Thrombocytopenia	ORPHA:88
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1	Agyria, Optic nerve hypoplasia, Type II lissencephaly, Microcephaly, Hypoplasia of the brainstem,...	OMIM:236670
Neonatal Adrenoleukodystrophy	Abnormality of neuronal migration, Macrocephaly	ORPHA:44
Neu-Laxova Syndrome	Cerebral calcification, Absent septum pellucidum, Abnormal cortical gyration, Microcephaly, Polym...	ORPHA:2671
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2	Cerebellar dysplasia, Microcephaly, Partial absence of cerebellar vermis, Hypoplasia of the brain...	OMIM:613150
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1	Reticulocytosis, Hyperlipidemia, Schistocytosis, Elevated circulating creatinine concentration, M...	OMIM:235400
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked	Elevated hepatic transaminase, Hepatomegaly, Elevated circulating creatine kinase concentration, ...	OMIM:301056
Crome Syndrome	Microcephaly, Cerebellar dysplasia	OMIM:218900
Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities	Frontal polymicrogyria, Cerebral calcification, Cerebellar vermis hypoplasia, Microcephaly, Leuko...	OMIM:620024
Desmosterolosis	Absent septum pellucidum, Abnormal cortical gyration, Microcephaly, Pachygyria, Abnormality of ne...	ORPHA:35107
Dyskeratosis Congenita, Autosomal Dominant 2	Pancytopenia, Aplastic anemia, Leukopenia, Hepatic fibrosis, Bone marrow hypocellularity, Neutrop...	OMIM:613989
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 2	Hypoalbuminemia	OMIM:614441
Thiamine-Responsive Megaloblastic Anemia Syndrome	Thrombocytopenia, Megaloblastic anemia	ORPHA:49827
Thrombocytopenia, Paris-Trousseau Type	Thrombocytopenia	OMIM:188025
Ghosal Hematodiaphyseal Dysplasia	Refractory anemia, Leukopenia, Bone marrow hypocellularity, Thrombocytopenia	OMIM:231095
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome	Increased circulating ferritin concentration, Hypochromic microcytic anemia, Thrombocytopenia	ORPHA:3240
Autosomal Recessive Polycystic Kidney Disease	Hyponatremia, Cholangiocarcinoma, Cholangitis, Portal hypertension, Biliary hyperplasia, Congenit...	ORPHA:731
Blue Rubber Bleb Nevus	Iron deficiency anemia, Abnormality of the liver, Thrombocytopenia	OMIM:112200
Galloway-Mowat Syndrome	Aqueductal stenosis, Pachygyria, Abnormality of neuronal migration, Microcephaly	ORPHA:2065
Slc35A2-Cdg	Cerebellar atrophy, Cerebral white matter atrophy, Abnormal midbrain morphology, Microcephaly, Co...	ORPHA:356961
Alg8-Cdg	Hyponatremia, Thrombocytopenia, Anemia, Elevated hepatic transaminase	ORPHA:79325
Kaposiform Lymphangiomatosis	Pancreatic cysts, Splenomegaly, Thrombocytopenia, Abnormality of the lymphatic system, Hepatosple...	ORPHA:464329
Holoprosencephaly 14	Cerebellar atrophy, Absent septum pellucidum, Microcephaly, Periventricular heterotopia, Aqueduct...	OMIM:619895
Hermansky-Pudlak Syndrome 2	Hepatomegaly, Absent platelet dense granules, Splenomegaly, Impaired ADP-induced platelet aggrega...	OMIM:608233
Immunodeficiency, Common Variable, 8, With Autoimmunity	Pancytopenia, Autoimmune hemolytic anemia, Generalized lymphadenopathy, Chronic neutropenia, Auto...	OMIM:614700
Hermansky-Pudlak Syndrome 9	Leukopenia, Abnormal platelet aggregation, Thrombocytopenia	OMIM:614171
Joubert Syndrome 7	Molar tooth sign on MRI, Hypoplasia of the brainstem, Brainstem dysplasia, Abnormal corpus callos...	OMIM:611560
Vexas Syndrome	Thrombocytopenia, Macrocytic anemia, Elevated circulating C-reactive protein concentration	OMIM:301054
Insulin-Resistance Syndrome Type B	Abnormal circulating fatty-acid concentration, Biliary cirrhosis, Leukopenia, Hypotriglyceridemia...	ORPHA:2298
Pelger-Huet Anomaly	Abnormality of neutrophils, Hyposegmentation of neutrophil nuclei, Giant platelets, Neutropenia, ...	OMIM:169400
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Hepatosplenomegaly, Anemia, Leukopenia, Hypoalbuminemia, Bone marrow hypocellularity, Thrombocyto...	ORPHA:505248
Aicardi-Goutieres Syndrome 5	Thrombocytopenia	OMIM:612952
Marburg Hemorrhagic Fever	Elevated hepatic transaminase, Reticulocytosis, Lymphopenia, Elevated circulating creatine kinase...	ORPHA:99826
Mitochondrial Complex I Deficiency, Nuclear Type 20	Elevated hepatic transaminase, Microvesicular hepatic steatosis, Hepatic failure, Thrombocytopenia	OMIM:611126
Juvenile Polyposis Syndrome	Hypokalemia, Hypoalbuminemia, Anemia	OMIM:174900
47,Xyy Syndrome	Dysgenesis of the cerebellar vermis, Macrocephaly, Abnormal brainstem morphology, Cerebellar dysp...	ORPHA:8
Immunodeficiency 87 And Autoimmunity	Decreased proportion of CD4-positive T cells, Hepatomegaly, Hemolytic anemia, Hypertriglyceridemi...	OMIM:619573
Holocarboxylase Synthetase Deficiency	Thrombocytopenia, Hyperammonemia	ORPHA:79242
Pediatric-Onset Graves Disease	Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Jaundice, Neutropenia in presence of a...	ORPHA:525731
Secondary Intestinal Lymphangiectasia	Lymphopenia, Reduced circulating transferrin concentration, Hypoalbuminemia, Cirrhosis, Hypochole...	ORPHA:90363
Necrotizing Enterocolitis	Hyponatremia, Leukocytosis, Peritonitis, Neutropenia, Thrombocytopenia	ORPHA:391673
Thyrocerebroretinal Syndrome	Thrombocytopenia	OMIM:274240
Imerslund-Gräsbeck Syndrome	Reticulocytosis, Macrocytic anemia, Pancytopenia, Megaloblastic anemia, Anisopoikilocytosis, Abno...	ORPHA:35858
Diffuse Alveolar Hemorrhage	Thrombocytopenia, Leukocytosis, Elevated circulating creatinine concentration, Anemia	ORPHA:90060
Aicardi-Goutieres Syndrome 1	Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Prolonged neonatal jaundice, Thrombocy...	OMIM:225750
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia	Elevated circulating C-reactive protein concentration, Cervical lymphadenopathy, Decreased mean p...	OMIM:617718
Moyamoya Disease 6 With Or Without Achalasia	Thrombocytopenia	OMIM:615750
Hardikar Syndrome	Elevated hepatic transaminase, Hepatomegaly, Intrahepatic bile duct cysts, Cholangitis, Portal hy...	OMIM:301068
Thiamine-Responsive Megaloblastic Anemia Syndrome	Sideroblastic anemia, Thiamine-responsive megaloblastic anemia, Thrombocytopenia	OMIM:249270
Rajab Interstitial Lung Disease With Brain Calcifications 1	Elevated hepatic transaminase, Pancytopenia, Portal hypertension, Cholestasis, Hypoalbuminemia, H...	OMIM:613658
Sengers Syndrome	Thrombocytopenia	OMIM:212350
Shigellosis	Hyponatremia, Peritonitis, Leukocytosis, Abnormal blood ion concentration, Cholestasis, Microangi...	ORPHA:810
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7	Anemia, Thrombocytopenia, Lymphopenia, Portal hypertension	OMIM:620365
Acute Disseminated Encephalomyelitis	Hypointensity of cerebral white matter on MRI, Disseminated viral infection, Severe parainfluenza...	ORPHA:83597
Combined Oxidative Phosphorylation Deficiency 55	Elevated circulating creatine kinase concentration, Hypomagnesemia, Thrombocytopenia, Hypophospha...	OMIM:619743
Joubert Syndrome 6	Dilated fourth ventricle, Cerebellar vermis hypoplasia, Hypoplasia of the brainstem, Molar tooth ...	OMIM:610688
Hennekam Lymphangiectasia-Lymphedema Syndrome 1	Pericardial lymphangiectasia, Thyroid lymphangiectasia, Pulmonary lymphangiectasia, Hypoalbuminem...	OMIM:235510
Dyskeratosis Congenita, Autosomal Dominant 1	Aplastic anemia, Thrombocytopenia, Hepatic necrosis, Leukopenia, Increased mean corpuscular volum...	OMIM:127550
Kikuchi-Fujimoto Disease	Elevated hepatic transaminase, Hepatomegaly, Generalized lymphadenopathy, Elevated circulating C-...	ORPHA:50918
Alg12-Cdg	Hyponatremia, Elevated hepatic transaminase, Hypoalbuminemia, B lymphocytopenia, Hypocholesterole...	ORPHA:79324
Systemic Lupus Erythematosus	Hemolytic anemia, Thrombocytopenia, Leukopenia	OMIM:152700
Porphyria, Congenital Erythropoietic	Hepatomegaly, Hemolytic anemia, Splenomegaly, Jaundice, Elevated circulating uroporphyrin concent...	OMIM:263700
Bleeding Disorder, Platelet-Type, 17	Increased RBC distribution width, Macrothrombocytopenia, Absence of alpha granules, Impaired coll...	OMIM:187900
Joubert Syndrome	Cerebellar vermis hypoplasia, Abnormality of neuronal migration, Aplasia/Hypoplasia of the corpus...	ORPHA:475
Immunodeficiency, Common Variable, 12, With Autoimmunity	Autoimmune hemolytic anemia, Thrombocytopenia	OMIM:616576
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency	Cerebellar atrophy, Optic nerve hypoplasia, Olivopontocerebellar hypoplasia, Hypoplasia of the po...	ORPHA:468631
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form	Decreased serum iron, Anemia, Decreased serum zinc, Hypoalbuminemia, Decreased circulating carnit...	ORPHA:89842
Schimke Immuno-Osseous Dysplasia	Thrombocytopenia, Hyperlipidemia, Decreased proportion of naive CD8 T cells, Abnormal proportion ...	ORPHA:1830
Meckel Syndrome, Type 4	Agenesis of cerebellar vermis, Microcephaly, Anencephaly, Hypoplasia of the corpus callosum, Mola...	OMIM:611134
Snakebite Envenomation	Hyponatremia, Thrombocytopenia	ORPHA:449285
Dyskeratosis Congenita, Autosomal Recessive 1	Pancytopenia, Aplastic anemia, Hepatic fibrosis, Bone marrow hypocellularity, Thrombocytopenia	OMIM:224230
Shiga Toxin-Associated Hemolytic Uremic Syndrome	Hyponatremia, Reticulocytosis, Peritonitis, Leukocytosis, Elevated circulating creatinine concent...	ORPHA:90038
Familial Acute Necrotizing Encephalopathy	Abnormal putamen morphology, Abnormal brainstem MRI signal intensity, Abnormal brainstem morpholo...	ORPHA:88619
Q Fever	Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Thrombocytopenia, Hepatitis, Hepatospl...	ORPHA:781
Tufted Angioma	Anemia, Thrombocytopenia	ORPHA:1063
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis	Hyponatremia, Leukocytosis, Thrombocytopenia	ORPHA:83601
Shwachman-Diamond Syndrome 1	Elevated hepatic transaminase, Hepatomegaly, Acute myeloid leukemia, Pancytopenia, Thrombocytopen...	OMIM:260400
Li-Ghorbani-Weisz-Hubshman Syndrome	Hypoplasia of the corpus callosum, Periventricular heterotopia	OMIM:618974
Congenital Disorder Of Deglycosylation 2	Cerebellar vermis hypoplasia, Partial agenesis of the corpus callosum, Gray matter heterotopia, M...	OMIM:619775
Thrombocytopenia, X-Linked, With Or Without Dyserythropoietic Anemia	Poikilocytosis, Congenital thrombocytopenia, Anemia of inadequate production, Acanthocytosis	OMIM:300367
Platelet Disorder, Undefined	Impaired platelet aggregation, Thrombocytopenia	OMIM:173420
Immunodeficiency 82 With Systemic Inflammation	Decreased proportion of naive T cells, Elevated circulating C-reactive protein concentration, Fol...	OMIM:619381
Thanatophoric Dysplasia Type 2	Abnormality of neuronal migration, Macrocephaly	ORPHA:93274
Chiari Malformation Type Ii	Gray matter heterotopia, Chiari malformation, Agenesis of corpus callosum	OMIM:207950
Neutropenia, Severe Congenital, 4, Autosomal Recessive	Hepatomegaly, Intermittent thrombocytopenia, Splenomegaly, Erythroid hypoplasia, Thrombocytopenia...	OMIM:612541
3C Syndrome	Recurrent respiratory infections, Abnormality of neuronal migration, Macrocephaly, Aplasia/Hypopl...	ORPHA:7
Vici Syndrome	Recurrent respiratory infections, Schizencephaly, Cerebellar vermis hypoplasia, Microcephaly, Rec...	OMIM:242840
Braddock-Carey Syndrome 2	Thrombocytopenia	OMIM:619981
Acute Promyelocytic Leukemia	Pancytopenia, Leukocytosis, Lymphadenopathy, Anemia, Leukopenia, Neutropenia, Thrombocytopenia	ORPHA:520
Farber Disease	Elevated hepatic transaminase, Intrahepatic cholestasis with episodic jaundice, Thrombocytopenia,...	ORPHA:333
Neuroleptic Malignant Syndrome	Hyponatremia, Elevated hepatic transaminase, Elevated circulating creatine kinase concentration, ...	ORPHA:94093
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies	Microcephaly, Simplified gyral pattern, Gray matter heterotopia, Lissencephaly, Macrocephaly, Age...	OMIM:615219
Fragile X Syndrome	Periventricular heterotopia, Macrocephaly	OMIM:300624
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13	Agenesis of cerebellar vermis, Absent septum pellucidum, Type II lissencephaly, Cortical dysplasi...	OMIM:615287
Autosomal Dominant Spastic Paraplegia Type 36	Abnormal brainstem MRI signal intensity	ORPHA:320365
Bone Marrow Failure Syndrome 3	Acute myeloid leukemia, Pancytopenia, Aplastic anemia, Pancreatic steatosis, Thrombocytopenia, Ne...	OMIM:617052
Stt3B-Cdg	Thrombocytopenia	ORPHA:370924
Neurodevelopmental Disorder With Hearing Loss, Seizures, And Brain Abnormalities	Thrombocytopenia	OMIM:616577
Carnitine Palmitoyltransferase Ii Deficiency	Cerebral calcification, Cerebellar vermis hypoplasia, Abnormality of neuronal migration, Abnormal...	ORPHA:157
Joubert Syndrome 2	Agenesis of cerebellar vermis, Brainstem dysplasia, Hypoplasia of the brainstem, Macrocephaly, Dy...	OMIM:608091
Congenital Disorder Of Glycosylation, Type Ix	Thrombocytopenia	OMIM:615597
Immune Thrombocytopenia	Thrombocytopenia	ORPHA:3002
Aicardi-Goutieres Syndrome 7	Hepatomegaly, Hemolytic anemia, Pancytopenia, Generalized lymphadenopathy, Splenomegaly, Increase...	OMIM:615846
Gaucher Disease, Perinatal Lethal	Hepatomegaly, Splenomegaly, Thrombocytopenia, Hepatosplenomegaly, Hepatic failure, Anemia	OMIM:608013
Methylmalonate Semialdehyde Dehydrogenase Deficiency	Periventricular heterotopia, Thin corpus callosum, Hypoplasia of the corpus callosum, Microcephaly	OMIM:614105
Xfe Progeroid Syndrome	Elevated hepatic transaminase, Hypoalbuminemia	OMIM:610965
Kasabach-Merritt Syndrome	Reticulocytosis, Thrombocytopenia, Abnormal lymphatic vessel morphology, Leukopenia, Hepatic hema...	ORPHA:2330
Joubert Syndrome 1	Agenesis of cerebellar vermis, Cerebellar vermis hypoplasia, Brainstem dysplasia, Microcephaly, H...	OMIM:213300
Good Syndrome	Abnormal leukocyte morphology, Mediastinal lymphadenopathy, Thymoma, Anemia, Aplasia/Hypoplasia o...	ORPHA:169105
Alg11-Cdg	Cerebral white matter atrophy, Microcephaly, Cerebral atrophy, Gray matter heterotopia, Abnormal ...	ORPHA:280071
Gaucher Disease, Type Ii	Splenomegaly, Hepatomegaly, Thrombocytopenia, Anemia	OMIM:230900
Adams-Oliver Syndrome	Portal hypertension, Congenital hepatic fibrosis, Leukopenia, Cirrhosis, Thrombocytopenia	ORPHA:974
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked	Thrombocytopenia, Increased mean platelet volume	OMIM:300048
Neurodevelopmental Disorder With Hypotonia, Neonatal Respiratory Insufficiency, And Thermodysregulation	Gray matter heterotopia, Hypoplasia of the corpus callosum, Cerebral atrophy, Recurrent viral inf...	OMIM:618797
Shwachman-Diamond Syndrome 2	Normocytic anemia, Hepatomegaly, Neutropenia, Hyperechogenic pancreas, Thrombocytopenia, Exocrine...	OMIM:617941
Bohring-Opitz Syndrome	Microcephaly, Recurrent infections, Gray matter heterotopia, Hypoplasia of the brainstem, Hypopla...	OMIM:605039
Edinburgh Malformation Syndrome	Abnormality of neuronal migration	ORPHA:1895
Ebola Hemorrhagic Fever	Acute pancreatitis, Hepatitis, Leukopenia, Lymphopenia, Thrombocytopenia	ORPHA:319218
Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency	Thrombocytopenia, Bone marrow hypocellularity, Anemia, Neutropenia	OMIM:614520
Brucellosis	Hepatomegaly, Liver abscess, Elevated circulating C-reactive protein concentration, Hypersplenism...	ORPHA:1304
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis	Cerebral calcification, Periventricular heterotopia, Chiari type I malformation, Cerebellar hypop...	OMIM:618476
Thanatophoric Dysplasia	Gray matter heterotopia, Macrocephaly	ORPHA:2655
Mitochondrial Complex Iv Deficiency, Nuclear Type 12	Hypoalbuminemia, Elevated circulating creatine kinase concentration	OMIM:619055
Familial Cerebral Saccular Aneurysm	Encephalomalacia, Abnormal brainstem morphology	ORPHA:231160
Quebec Platelet Disorder	Thrombocytopenia, Impaired epinephrine-induced platelet aggregation	OMIM:601709
Paroxysmal Nocturnal Hemoglobinuria	Hemolytic anemia, Reticulocytosis, Pancytopenia, Decreased serum iron, Abnormal erythrocyte enzym...	ORPHA:447
Osteopetrosis With Renal Tubular Acidosis	Hepatomegaly, Pancytopenia, Elevated circulating creatine kinase concentration, Thrombocytopenia,...	ORPHA:2785
Congenital Erythropoietic Porphyria	Hemolytic anemia, Reticulocytosis, Anisocytosis, Abnormal circulating porphyrin concentration, Sp...	ORPHA:79277
Lujo Hemorrhagic Fever	Elevated hepatic transaminase, Elevated circulating C-reactive protein concentration, Fulminant h...	ORPHA:319213
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form	Intracerebral periventricular calcifications, Cerebral calcification, Cerebellar vermis hypoplasi...	ORPHA:228308
Orofaciodigital Syndrome Type 6	Cerebellar vermis hypoplasia, Abnormality of neuronal migration, Aplasia/Hypoplasia of the corpus...	ORPHA:2754
Hypertelorism-Hypospadias-Polysyndactyly Syndrome	Abnormal cortical gyration, Abnormality of neuronal migration, Macrogyria, Lissencephaly, Pachygy...	ORPHA:2211
Diarrhea 10, Protein-Losing Enteropathy Type	Hyponatremia, Hypertriglyceridemia, Hypoalbuminemia, Hypocalcemia, Hypomagnesemia	OMIM:618183
Idiopathic Hypereosinophilic Syndrome	Elevated hepatic transaminase, Neutrophilia, Generalized lymphadenopathy, Cholangitis, Eosinophil...	ORPHA:3260
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige	Hypernatremia, Hypoalbuminemia	OMIM:615508
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 1	Amegakaryocytic thrombocytopenia, Aplastic anemia, Congenital thrombocytopenia	OMIM:605432
Holocarboxylase Synthetase Deficiency	Thrombocytopenia, Hyperammonemia	OMIM:253270
Coffin-Lowry Syndrome	Microcephaly, Abnormality of neuronal migration, Aplasia/Hypoplasia of the corpus callosum, Aplas...	ORPHA:192
Joubert Syndrome With Hepatic Defect	Cerebellar vermis hypoplasia, Abnormality of neuronal migration, Aplasia/Hypoplasia of the corpus...	ORPHA:1454
Juvenile Polyposis Syndrome	Neoplasm of the pancreas, Extrahepatic portal hypertension, Hepatic arteriovenous malformation, H...	ORPHA:2929
Orofaciodigital Syndrome Xvi	Molar tooth sign on MRI, Gray matter heterotopia	OMIM:617563
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures	Thrombocytopenia	OMIM:617710
Man1B1-Cdg	Cerebellar hypoplasia, Periventricular heterotopia	ORPHA:397941
Agammaglobulinemia 9, Autosomal Recessive	Thrombocytopenia, Absent circulating B cells	OMIM:619693
Leukoencephalopathy-Spondyloepimetaphyseal Dysplasia Syndrome	Abnormal brainstem MRI signal intensity, Hypoplasia of the corpus callosum, Leukoencephalopathy, ...	ORPHA:83629
Cntnap2-Related Developmental And Epileptic Encephalopathy	Periventricular leukomalacia, Abnormality of neuronal migration, Cerebellar vermis atrophy	ORPHA:163681
Ethylmalonic Encephalopathy	Abnormal basal ganglia MRI signal intensity, Abnormal brainstem MRI signal intensity	ORPHA:51188
3-Methylglutaconic Aciduria, Type Viib	Leukopenia, Hepatic steatosis, Thrombocytopenia, Neutropenia	OMIM:616271
Braddock-Carey Syndrome 1	Thrombocytopenia	OMIM:619980
Hereditary Folate Malabsorption	Pancytopenia, Eosinophilia, Thrombocytopenia, Megaloblastic anemia	ORPHA:90045
Lathosterolosis	Hepatomegaly, Intrahepatic cholestasis, Anisopoikilocytosis, Abnormal platelet morphology, Hepati...	ORPHA:46059
Pediatric Systemic Lupus Erythematosus	Lymphadenopathy, Leukopenia, Microangiopathic hemolytic anemia, Lymphopenia, Thrombocytopenia	ORPHA:93552
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Intracerebral periventricular calcifications, Microcephaly, Abnormality of neuronal migration, Ba...	OMIM:608836
6Q Terminal Deletion Syndrome	Periventricular heterotopia, Abnormality of neuronal migration, Macrocephaly, Abnormal cerebral w...	ORPHA:75857
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome	Accessory spleen, Elevated hepatic transaminase, Severe B lymphocytopenia, Portal hypertension, T...	OMIM:620005
Bilateral Perisylvian Polymicrogyria	Cerebellar vermis hypoplasia, Microcephaly, Perisylvian predominant thick cortex pachygyria, Abno...	ORPHA:98889
Miller-Dieker Lissencephaly Syndrome	Microcephaly, Gray matter heterotopia, Lissencephaly, Hypoplasia of the corpus callosum, Cavum se...	OMIM:247200
Hermansky-Pudlak Syndrome 5	Absent platelet dense granules, Impaired ADP-induced platelet aggregation, Thrombocytopenia	OMIM:614074
Wolfram Syndrome 1	Sideroblastic anemia, Thrombocytopenia, Megaloblastic anemia	OMIM:222300
Adult Krabbe Disease	Abnormal pons morphology, Abnormal medulla oblongata morphology, Abnormal midbrain morphology, Ab...	ORPHA:206448
Hoyeraal-Hreidarsson Syndrome	Abnormal leukocyte morphology, Thrombocytopenia, Bone marrow hypocellularity, Anemia	ORPHA:3322
Zika Virus Disease	Thrombocytopenia	ORPHA:448237
Methylmalonic Aciduria And Homocystinuria, Cblc Type	Methylmalonic acidemia, Hypomethioninemia, Megaloblastic anemia, Hyperhomocystinemia, Cystathioni...	OMIM:277400
Radio-Tartaglia Syndrome	Gray matter heterotopia, Agenesis of corpus callosum, Microcephaly	OMIM:619312
Schimke Immunoosseous Dysplasia	Pancytopenia, Abnormal T cell morphology, Anemia, Neutropenia, Lymphopenia, Thrombocytopenia	OMIM:242900
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form	Hypoalbuminemia, Anemia	ORPHA:79396
Von Willebrand Disease, Type 3	Impaired platelet aggregation, Thrombocytopenia	OMIM:277480
Smith-Kingsmore Syndrome	Thrombocytopenia	OMIM:616638
Oculocerebral Hypopigmentation Syndrome, Preus Type	Aplasia/Hypoplasia of the cerebellum, Abnormal brainstem morphology	ORPHA:2720
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities	Periventricular heterotopia, Periventricular leukomalacia, Thin corpus callosum, Microcephaly	OMIM:619833
Galloway-Mowat Syndrome 3	Hypoalbuminemia	OMIM:617729
Pierson Syndrome	Hypoproteinemia	OMIM:609049
Cerebrofacioarticular Syndrome	Cerebellar vermis hypoplasia, Microcephaly, Dysplastic corpus callosum, Gray matter heterotopia, ...	ORPHA:314679
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis	Hepatomegaly, Splenomegaly, Micronodular cirrhosis, Hepatic failure, Thrombocytopenia	OMIM:301072
Mogs-Cdg	Hepatomegaly, Thrombocytopenia, Hepatosplenomegaly	ORPHA:79330
Juvenile Polyposis Of Infancy	Refractory anemia, Hypoalbuminemia, Anemia	ORPHA:79076
Biliary, Renal, Neurologic, And Skeletal Syndrome	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Portal hypertension,...	OMIM:619534
Japanese Encephalitis	Abnormal substantia nigra morphology, Abnormal midbrain morphology, Meningitis, Increased circula...	ORPHA:79139
Dyskeratosis Congenita, Autosomal Dominant 3	Pancytopenia, Aplastic anemia, Leukopenia, Bone marrow hypocellularity, Thrombocytopenia	OMIM:613990
Gaucher Disease Type 3	Hepatomegaly, Pancytopenia, Splenomegaly, Anemia, Thrombocytopenia	ORPHA:77261
Leigh Syndrome	Cerebellar atrophy, Abnormal basal ganglia MRI signal intensity, Neuronal loss in basal ganglia, ...	ORPHA:506
Dyskeratosis Congenita	Neoplasm of the pancreas, Hepatomegaly, Abnormality of neutrophils, Splenomegaly, Thrombocytopeni...	ORPHA:1775
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome	Thrombocytopenia, Reticulocytopenia, Leukopenia, B lymphocytopenia, Bone marrow hypocellularity, ...	ORPHA:508542
Aicardi Syndrome	Cerebellar vermis hypoplasia, Microcephaly, Partial agenesis of the corpus callosum, Recurrent pn...	OMIM:304050
Van Maldergem Syndrome 1	Subcortical band heterotopia, Simplified gyral pattern, Gray matter heterotopia, Hypoplasia of th...	OMIM:601390
Cerebellar-Facial-Dental Syndrome	Abnormal midbrain morphology, Microcephaly, Hypoplasia of the pons, Hypoplasia of the brainstem, ...	ORPHA:444072
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation	Microcephaly, Abnormal brainstem morphology, Abnormality of neuronal migration, Recurrent infecti...	ORPHA:464311
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome	Thrombocytopenia, Abnormality of the liver, Hyperbilirubinemia	ORPHA:464321
Smith-Lemli-Opitz Syndrome	Hepatomegaly, Splenomegaly, Cholestatic liver disease, Hypoalbuminemia, Elevated circulating 7-de...	OMIM:270400
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome	High nonceruloplasmin-bound serum copper, Thrombocytopenia	ORPHA:457351
Methylmalonic Acidemia With Homocystinuria, Type Cblc	Methylmalonic acidemia, Hypomethioninemia, Megaloblastic anemia, Jaundice, Hyperammonemia, Elevat...	ORPHA:79282
Yellow Fever	Acute pancreatitis, Neutrophilia, Elevated circulating aspartate aminotransferase concentration, ...	ORPHA:99829
Arima Syndrome	Dilated fourth ventricle, Agenesis of cerebellar vermis, Cerebellar vermis hypoplasia, Brainstem ...	OMIM:243910
Gaucher Disease	Hepatomegaly, Pancytopenia, Elevated circulating C-reactive protein concentration, Splenomegaly, ...	ORPHA:355
Congenital Disorder Of Glycosylation, Type Iig	Thrombocytopenia, Giant platelets, Anemia	OMIM:611209
Lig4 Syndrome	Acute lymphoblastic leukemia, Pancytopenia, Thrombocytopenia	OMIM:606593
Aprosencephaly And Cerebellar Dysgenesis	Absent mesencephalon, Poorly formed metencephalon, Aprosencephaly, Cerebellar dysplasia	OMIM:601374
Amoebiasis Due To Free-Living Amoebae	Unusual skin infection, Abnormal medulla oblongata morphology, Abnormal midbrain morphology, Abno...	ORPHA:68
Thanatophoric Dysplasia, Type I	Gray matter heterotopia, Macrocephaly, Temporal lobe dysplasia	OMIM:187600
Acromelic Frontonasal Dysostosis	Tubulonodular pericallosal lipoma, Optic nerve hypoplasia, Retrocerebellar cyst, Gray matter hete...	OMIM:603671
Beemer-Ertbruggen Syndrome	Thrombocytopenia	ORPHA:1237
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance	Hyperlipidemia, Hypoalbuminemia	ORPHA:567546
9Q21.13 Microdeletion Syndrome	Gray matter heterotopia, Aplasia/Hypoplasia of the corpus callosum	ORPHA:531151
Thrombocytopenia 3	Thrombocytopenia, Decreased mean platelet volume	OMIM:273900
Galloway-Mowat Syndrome 1	Hypoalbuminemia	OMIM:251300
Gangliocytoma	Abnormal cerebellum morphology, Abnormal brainstem morphology	ORPHA:251937
Crimean-Congo Hemorrhagic Fever	Hepatomegaly, Acute pancreatitis, Neutrophilia, Pancytopenia, Elevated circulating creatine kinas...	ORPHA:99827
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy	Abnormal brainstem MRI signal intensity, Pontocerebellar atrophy, Lissencephaly, Recurrent lower ...	ORPHA:258
Tick-Borne Encephalitis	Elevated hepatic transaminase, Elevated circulating C-reactive protein concentration, Leukocytosi...	ORPHA:297
Acute Radiation Syndrome	Lymphopenia, Granulocytopenia, Thrombocytopenia	ORPHA:454831
Thrombocytopenia 6	Thrombocytopenia	OMIM:616937
Fanconi Anemia, Complementation Group E	Pancytopenia, Reticulocytopenia, Anemia, Neutropenia, Leukemia, Thrombocytopenia	OMIM:600901
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome	Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Hepatitis, Neutropenia in presence of a...	ORPHA:391487
Congenital Disorder Of Glycosylation, Type Iiw	Elevated hepatic transaminase, Hepatomegaly, Elevated circulating aspartate aminotransferase conc...	OMIM:619525
16P13.11 Microdeletion Syndrome	Agenesis of corpus callosum, Abnormality of neuronal migration, Microcephaly	ORPHA:261236
Periventricular Nodular Heterotopia	Periventricular heterotopia	ORPHA:98892
Maternal Uniparental Disomy Of Chromosome 6	Thrombocytopenia	ORPHA:96181
Fanconi Anemia, Complementation Group C	Pancytopenia, Reticulocytopenia, Anemia, Bone marrow hypocellularity, Neutropenia, Leukemia, Thro...	OMIM:227645
Microphthalmia, Syndromic 9	Hypoplastic spleen, Multilobulated spleen	OMIM:601186
Hellp Syndrome	Elevated hepatic transaminase, Hemolytic anemia, Decreased mean corpuscular hemoglobin concentrat...	ORPHA:244242
Fanconi Anemia, Complementation Group A	Pancytopenia, Reticulocytopenia, Anemia, Neutropenia, Leukemia, Thrombocytopenia	OMIM:227650
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome	Absent gallbladder, Thrombocytopenia, Hypocalcemia, Hyperbilirubinemia, Anemia	ORPHA:163979
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age	Periventricular heterotopia, Absent septum pellucidum, Macrocephaly	OMIM:618870
Fanconi Anemia, Complementation Group D2	Pancytopenia, Reticulocytopenia, Anemia, Bone marrow hypocellularity, Leukemia, Neutropenia, Annu...	OMIM:227646
Exercise-Induced Malignant Hyperthermia	Elevated circulating creatine kinase concentration, Hyperkalemia, Hyperphosphatemia, Hypocalcemia...	ORPHA:466650
Splenogonadal Fusion-Limb Defects-Micrognathia Syndrome	Abnormality of neuronal migration	ORPHA:2063
Thanatophoric Dysplasia Type 1	Gray matter heterotopia, Macrocephaly	ORPHA:1860
Proteasome-Associated Autoinflammatory Syndrome 1	Elevated hepatic transaminase, Decreased HDL cholesterol concentration, Hepatomegaly, Hypertrigly...	OMIM:256040
Noonan Syndrome 4	Thrombocytopenia	OMIM:610733
Stevens-Johnson Syndrome	Acute hepatic failure, Elevated hepatic transaminase, Abnormality of neutrophils, Thrombocytopeni...	ORPHA:36426
Recon Progeroid Syndrome	Thrombocytopenia, Anemia	OMIM:620370
Wiskott-Aldrich Syndrome	Hemolytic anemia, Abnormal eosinophil morphology, Microcytic anemia, Thrombocytopenia, Chronic le...	ORPHA:906
Peroxisome Biogenesis Disorder 13A (Zellweger)	Gray matter heterotopia, Polymicrogyria	OMIM:614887
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome	Pancytopenia, Splenomegaly, Abnormality of the spleen, Thrombocytopenia, Hepatosplenomegaly, Hepa...	ORPHA:2072
Combined Oxidative Phosphorylation Defect Type 23	Abnormal basal ganglia MRI signal intensity, Abnormal brainstem MRI signal intensity	ORPHA:444013
Fragile X-Associated Tremor/Ataxia Syndrome	Diffuse cerebellar atrophy, Abnormal brainstem morphology, Cerebral cortical atrophy	ORPHA:93256
Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome	Periventricular heterotopia, Agenesis of corpus callosum, Macrocephaly	OMIM:618929
Toxic Epidermal Necrolysis	Acute hepatic failure, Elevated hepatic transaminase, Thrombocytopenia, Neutropenia, Pancreatitis...	ORPHA:537
Fanconi Anemia, Complementation Group F	Leukopenia, Thrombocytopenia, Bone marrow hypocellularity, Anemia	OMIM:603467
Diamond-Blackfan Anemia	Acute myeloid leukemia, Pure red cell aplasia, Erythroid hypoplasia, Reticulocytopenia, Persisten...	ORPHA:124
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia	Hepatomegaly, Decreased hemoglobin concentration, Thrombocytopenia	OMIM:619005
Catastrophic Antiphospholipid Syndrome	Coombs-positive hemolytic anemia, Microangiopathic hemolytic anemia, Thrombocytopenia	ORPHA:464343
Rift Valley Fever	Elevated hepatic transaminase, Jaundice, Hepatitis, Anemia, Thrombocytopenia	ORPHA:319251
Periventricular Nodular Heterotopia 9	Microcephaly, Gray matter heterotopia, Hypoplasia of the corpus callosum, Periventricular nodular...	OMIM:618918
Fanconi Anemia, Complementation Group B	Aplastic anemia, Thrombocytopenia	OMIM:300514
Koolen-De Vries Syndrome	Gray matter heterotopia, Recurrent urinary tract infections, Hypoplasia of the corpus callosum, M...	OMIM:610443
Combined Oxidative Phosphorylation Defect Type 7	Abnormal brainstem MRI signal intensity, Abnormal cerebral white matter morphology, Hypoplasia of...	ORPHA:254930
Immunodeficiency 22	Decreased proportion of CD4-positive helper T cells, Thrombocytopenia, Anemia	OMIM:615758
Takenouchi-Kosaki Syndrome	Thrombocytopenia, Increased mean platelet volume	OMIM:616737
Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations	Hypoplasia of the pons, Cerebellar vermis hypoplasia, Primary microcephaly	OMIM:617523
Tropical Endomyocardial Fibrosis	Splenomegaly, Hepatomegaly, Hypoalbuminemia, Eosinophilia	ORPHA:75565
16Q24.3 Microdeletion Syndrome	Increased mean corpuscular volume, Thrombocytopenia	ORPHA:261250
Peroxisome Biogenesis Disorder 1A (Zellweger)	Aplasia/Hypoplasia of the corpus callosum, Gray matter heterotopia, Hypoplastic olfactory lobes, ...	OMIM:214100
Thrombocytopenia 1	Congenital thrombocytopenia, Decreased mean platelet volume, Intermittent thrombocytopenia	OMIM:313900
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3	Cerebellar dysplasia, Microcephaly, Aplasia/Hypoplasia of the corpus callosum, Hypoplasia of the ...	OMIM:253280
Multiple Acyl-Coa Dehydrogenase Deficiency	Gray matter heterotopia, Macrocephaly	ORPHA:26791
Diamond-Blackfan Anemia 21	Erythroid hypoplasia, Thrombocytopenia, Anemia	OMIM:620072
Orofaciodigital Syndrome Xiv	Cerebellar vermis hypoplasia, Microcephaly, Periventricular heterotopia, Partial agenesis of the ...	OMIM:615948
Nijmegen Breakage Syndrome	Recurrent sinopulmonary infections, Recurrent respiratory infections, Microcephaly, Recurrent pne...	ORPHA:647
Genitourinary And/Or Brain Malformation Syndrome	Absent septum pellucidum, Dysplastic corpus callosum, Gray matter heterotopia, Chiari malformatio...	OMIM:618820
Acute Liver Failure	Elevated hepatic transaminase, Jaundice, Hepatitis, Hepatic necrosis, Hyperammonemia, Hepatocellu...	ORPHA:90062
Holoprosencephaly	Microcephaly, Abnormality of neuronal migration, Aplasia/Hypoplasia of the corpus callosum, Macro...	ORPHA:2162
Hemorrhagic Fever-Renal Syndrome	Elevated hepatic transaminase, Thrombocytopenia, Leukocytosis, Hyperkalemia, Elevated circulating...	ORPHA:340
Van Maldergem Syndrome 2	Gray matter heterotopia, Periventricular nodular heterotopia, Subcortical band heterotopia, Hypop...	OMIM:615546
Infection-Related Hemolytic Uremic Syndrome	Hyponatremia, Hemolytic anemia, Leukocytosis, Hyperkalemia, Hypocalcemia, Pancreatitis, Thrombocy...	ORPHA:544482
Sarcoidosis	Hepatomegaly, Hemolytic anemia, Hypercalcemia, Portal hypertension, Eosinophilia, Thrombocytopeni...	ORPHA:797
Ivic Syndrome	Leukocytosis, Thrombocytopenia	ORPHA:2307
21Q22.11Q22.12 Microdeletion Syndrome	Thrombocytopenia, Anemia	ORPHA:261323
Achondroplasia	Recurrent otitis media, Brain stem compression, Macrocephaly, Megalencephaly	OMIM:100800
Wars2-Related Combined Oxidative Phosphorylation Defect	Thrombocytopenia	ORPHA:572798
Orofaciodigital Syndrome I	Abnormal cortical gyration, Microcephaly, Porencephalic cyst, Cerebral atrophy, Gray matter heter...	OMIM:311200
Primary Sjögren Syndrome	Normocytic anemia, Chronic active hepatitis, Biliary cirrhosis, Chronic hepatitis, Lymphadenopath...	ORPHA:289390
Bone Fragility With Contractures, Arterial Rupture, And Deafness	Thrombocytopenia	OMIM:612394
Cerebroretinal Microangiopathy With Calcifications And Cysts 1	Thrombocytopenia, Bone marrow hypocellularity, Anemia	OMIM:612199
Duplication Of The Pituitary Gland	Hypoplasia of olfactory tract, Agenesis of corpus callosum, Abnormal midbrain morphology, Microce...	ORPHA:314621
Deeah Syndrome	Hepatomegaly, Decreased hemoglobin concentration, Thrombocytopenia, Exocrine pancreatic insuffici...	OMIM:619004
Orofaciodigital Syndrome Type 14	Dilated fourth ventricle, Microcephaly, Periventricular heterotopia, Partial agenesis of the corp...	ORPHA:434179
Midface Hypoplasia, Obesity, Developmental Delay, And Neonatal Hypotonia	Gray matter heterotopia	OMIM:608624
Ivic Syndrome	Leukocytosis, Thrombocytopenia	OMIM:147750
Fetal And Neonatal Alloimmune Thrombocytopenia	Neonatal alloimmune thrombocytopenia	ORPHA:853
22Q11.2 Deletion Syndrome	Abnormality of thrombocytes, Abnormality of the tonsils, Splenomegaly, Hypoplasia of the thymus, ...	ORPHA:567
Thrombocytopenia-Absent Radius Syndrome	Eosinophilia, Pancreatic cysts, Leukocytosis, Hepatosplenomegaly, Anemia, Thrombocytopenia	OMIM:274000
Dyskeratosis Congenita, X-Linked	Acute myeloid leukemia, Pancytopenia, Thrombocytopenia, Leukopenia, Bone marrow hypocellularity, ...	OMIM:305000
Thrombocytopenia-Absent Radius Syndrome	Thrombocytopenia	ORPHA:3320
Diamond-Blackfan Anemia 1	Macrocytic anemia, Congenital hypoplastic anemia, Reticulocytopenia, Persistence of hemoglobin F,...	OMIM:105650
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome	Gray matter heterotopia, Hypoplasia of the corpus callosum, Microcephaly	ORPHA:453499
Ogden Syndrome	Microvesicular hepatic steatosis, Jaundice, Iron deficiency anemia, Macrovesicular hepatic steato...	OMIM:300855
Dubowitz Syndrome	Acute lymphoblastic leukemia, Thrombocytopenia, Anemia, Abnormality of neutrophils	ORPHA:235
Microcephalic Osteodysplastic Primordial Dwarfism, Type I	Cerebellar vermis hypoplasia, Agenesis of cerebellar vermis, Abnormal cortical gyration, Microcep...	OMIM:210710
Wiskott-Aldrich Syndrome	Impaired lymphocyte transformation with phytohemagglutinin, Autoimmune hemolytic anemia, Absent m...	OMIM:301000
Opitz-Kaveggia Syndrome	Relative macrocephaly, Gray matter heterotopia, Partial agenesis of the corpus callosum, Postnata...	OMIM:305450
Atelis Syndrome 2	Thrombocytopenia, Anemia	OMIM:620185
Jacobsen Syndrome	Annular pancreas, Thrombocytopenia	OMIM:147791
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome	Thrombocytopenia, Abnormality of the lymphatic system, Increased mean platelet volume	ORPHA:487796
Digeorge Syndrome	Splenomegaly, Thrombocytopenia, Abnormal thymus morphology, Hypoplasia of the thymus, Hypocalcemi...	OMIM:188400
Fibular Hemimelia	Thrombocytopenia	ORPHA:93323
Nijmegen Breakage Syndrome	T lymphocytopenia, Autoimmune hemolytic anemia, B lymphocytopenia, Thrombocytopenia	OMIM:251260
Oculocerebrorenal Syndrome Of Lowe	Hyponatremia, Hypoammonemia, Anemia, Hypokalemia, Hypophosphatemia, Hypercholesterolemia, Thrombo...	ORPHA:534
X-Linked Cerebral Adrenoleukodystrophy	Abnormal periventricular white matter morphology, Abnormal brainstem white matter morphology, Glo...	ORPHA:139396
Fanconi Anemia	Pyridoxine-responsive sideroblastic anemia, Thrombocytopenia, Leukopenia, Abnormality of the live...	ORPHA:84
Jacobsen Syndrome	Annular pancreas, Bone marrow hypocellularity, Thrombocytopenia	ORPHA:2308
Systemic Lupus Erythematosus	Leukopenia, Hemolytic anemia, Thrombocytopenia, Lymphadenopathy	ORPHA:536
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
Neuromuscular Oculoauditory Syndrome	Agenesis of corpus callosum, Periventricular heterotopia	OMIM:618733
Igg4-Related Dacryoadenitis And Sialadenitis	Retroperitoneal fibrosis, Thrombocytopenia, Lymphadenopathy	ORPHA:79078
Cornelia De Lange Syndrome 1	Thrombocytopenia	OMIM:122470
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome	Abnormality of neuronal migration, Microcephaly	ORPHA:3186
Aicardi-Goutières Syndrome	Elevated hepatic transaminase, Neonatal alloimmune thrombocytopenia, Chronic lymphatic leukemia, ...	ORPHA:51
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation	Optic nerve hypoplasia, Microcephaly, Gray matter heterotopia, Hypoplasia of the corpus callosum,...	ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion	Optic nerve hypoplasia, Microcephaly, Gray matter heterotopia, Hypoplasia of the corpus callosum,...	ORPHA:352665
Pagod Syndrome	Abnormality of neuronal migration, Microcephaly	ORPHA:991
Arnold-Chiari Malformation Type I	Chiari type I malformation, Brain stem compression	ORPHA:268882
Mismatch Repair Cancer Syndrome 1	Gray matter heterotopia, Agenesis of corpus callosum	OMIM:276300
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome	Hypoalbuminemia	OMIM:614748
Fontaine Progeroid Syndrome	Cerebellar vermis hypoplasia, Microcephaly, Periventricular heterotopia, Gray matter heterotopia,...	OMIM:612289
Listeriosis	Brain abscess, Unusual skin infection, Abnormal brainstem MRI signal intensity, Meningitis, Unusu...	ORPHA:533
Semilobar Holoprosencephaly	Macrocephaly, Agenesis of corpus callosum, Abnormal brainstem morphology, Microcephaly	ORPHA:220386
Alobar Holoprosencephaly	Macrocephaly, Agenesis of corpus callosum, Abnormal brainstem morphology, Microcephaly	ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly	Macrocephaly, Agenesis of corpus callosum, Abnormal brainstem morphology, Microcephaly	ORPHA:93926
Lobar Holoprosencephaly	Macrocephaly, Agenesis of corpus callosum, Abnormal brainstem morphology, Microcephaly	ORPHA:93924
Mowat-Wilson Syndrome Due To Monosomy 2Q22	Agenesis of cerebellar vermis, Cerebellar vermis hypoplasia, Focal hypointensity of cerebral whit...	ORPHA:261537
Hydrolethalus Syndrome 1	Absent septum pellucidum, Abnormal cortical gyration, Anencephaly, Gray matter heterotopia, Agene...	OMIM:236680
Roberts Syndrome	Thrombocytopenia	ORPHA:3103
Pmm2-Cdg	Elevated hepatic transaminase, Reduced thyroxin-binding globulin, Abnormal liver parenchyma morph...	ORPHA:79318
Full Nf2-Related Schwannomatosis	Abnormal cerebellum morphology, Brain stem compression	ORPHA:637
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome	Abnormal midbrain morphology, Recurrent upper respiratory tract infections, Macrocephaly, Recurre...	ORPHA:293987
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation	Agenesis of cerebellar vermis, Cerebellar vermis hypoplasia, Focal hypointensity of cerebral whit...	ORPHA:261552
Osteogenesis Imperfecta	Thrombocytopenia	ORPHA:666
Meningioma	Abnormal cerebellum morphology, Brain stem compression	ORPHA:2495
Mowat-Wilson Syndrome	Focal cortical dysplasia, Cerebellar vermis hypoplasia, Agenesis of cerebellar vermis, Microcepha...	ORPHA:2152
Proteus Syndrome	Gray matter heterotopia, Recurrent infections, Macrocephaly	ORPHA:744
Genitopatellar Syndrome	Periventricular heterotopia, Microcephaly, Pachygyria, Agenesis of corpus callosum, Thin corpus c...	OMIM:606170
Noonan Syndrome 1	Amegakaryocytic thrombocytopenia, Juvenile myelomonocytic leukemia	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 20.1 Data