Gene Summary

Name:
rho/rac guanine nucleotide exchange factor (GEF) 2
Synonyms:
Lfc,  GEF-H1,  LFP40,  GEFH1,  P40,  Lbcl1

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
abnormal brain morphology Arhgef2em1(IMPC)Mbp HOM Early adult 0.00
abnormal spleen morphology Arhgef2em1(IMPC)Mbp HOM Early adult 0.00
small liver Arhgef2em1(IMPC)Mbp HOM Early adult 0.00
decreased brain size Arhgef2em1(IMPC)Mbp HOM Early adult 0.00
small spleen Arhgef2em1(IMPC)Mbp HOM Early adult 0.00
abnormal skin morphology Arhgef2em1(IMPC)Mbp HOM Early adult 0.00
thrombocytopenia Arhgef2em1(IMPC)Mbp HOM Early adult 4.01×10-05
abnormal liver morphology Arhgef2em1(IMPC)Mbp HOM Early adult 0.00

Download data as:  TSV  XLS

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Viewing: all phenotypes
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Viewing: all phenotypes

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

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.

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
Microcephaly, Hypoplasia of the pons OMIM:617523

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

Disease Similarity of
phenotypes
Matching phenotypes Source
Lissencephaly 1
Hypoplasia of the brainstem, Pachygyria, Gray matter heterotopia, Abnormal cerebral white matter ... OMIM:607432
Cortical Dysplasia, Complex, With Other Brain Malformations 3
Pachygyria, Gray matter heterotopia, Hypoplasia of the corpus callosum, Cortical dysplasia, Agyri... OMIM:615411
Lissencephaly 3
Hypoplasia of the brainstem, Pachygyria, Gray matter heterotopia, Hypoplasia of the corpus callos... OMIM:611603
Cortical Dysplasia, Complex, With Other Brain Malformations 4
Pachygyria, Gray matter heterotopia, Cortical dysplasia, Agyria, Microcephaly, Subcortical band h... OMIM:615412
Cephalin Lipidosis
Abnormality of the spleen OMIM:212800
Cortical Dysplasia, Complex, With Other Brain Malformations 9
Hypoplasia of the brainstem, Pachygyria, Hypoplasia of the corpus callosum, Cerebellar hypoplasia... OMIM:618174
Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations
Pachygyria, Gray matter heterotopia, Hypoplasia of the corpus callosum, Abnormality of neuronal m... OMIM:604317
Pontocerebellar Hypoplasia, Type 12
Hypoplasia of the brainstem, Microcephaly, Cerebral hypoplasia, Cerebellar hypoplasia OMIM:618266
Joubert Syndrome 13
Molar tooth sign on MRI, Pachygyria, Cerebellar vermis hypoplasia OMIM:614173
Cortical Dysplasia, Complex, With Other Brain Malformations 6
Hypoplasia of the brainstem, Cerebellar hypoplasia, Polymicrogyria, Cortical dysplasia, Microcephaly OMIM:615771
Sea-Blue Histiocyte Disease
Thrombocytopenia, Cirrhosis, Sea-blue histiocytosis, Splenomegaly OMIM:269600
Neurodevelopmental Disorder With Microcephaly, Cortical Malformations, And Spasticity
Hypoplasia of the brainstem, Pachygyria, Hypoplasia of the corpus callosum, Cerebral atrophy, Cer... OMIM:618730
Cortical Dysplasia, Complex, With Other Brain Malformations 10
Hypoplasia of the brainstem, Thick cerebral cortex, Hypoplasia of the corpus callosum, Cerebellar... OMIM:618677
Microcephalic Primordial Dwarfism Due To Znf335 Deficiency
Small cerebral cortex, Abnormal cerebral morphology, Abnormal cerebellum morphology, Simplified g... ORPHA:329228
Periventricular Heterotopia With Microcephaly, Autosomal Recessive
Periventricular heterotopia, Hypoplasia of the corpus callosum, Periventricular nodular heterotop... OMIM:608097
Polymicrogyria Due To Tubb2B Mutation
Cavum septum pellucidum, Pachygyria, Abnormal caudate nucleus morphology, Gray matter heterotopia... ORPHA:300573
Neurodegeneration, Infantile-Onset, Biotin-Responsive
Hypoplasia of the corpus callosum, Cerebral atrophy, Polymicrogyria, Cerebellar atrophy, Microcep... OMIM:618973
Chudley-Mccullough Syndrome
Gray matter heterotopia, Hypoplasia of the corpus callosum, Cerebellar hypoplasia, Cerebellar dys... OMIM:604213
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Thrombocytopenia, Splenomegaly, Anemia, Abnormal platelet function, Abnormal hemoglobin ORPHA:231393
Erythroleukemia, Familial, Susceptibility To
Erythroid hyperplasia, Thrombocytopenia, Acute myeloid leukemia, Hepatomegaly, Anemia, Splenomega... OMIM:133180
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Extramedullary hematopoiesis, Neutropenia, Thrombocytopenia, Hepatomegaly, Leukopenia, Splenomega... OMIM:615285
Neurodevelopmental Disorder With Cerebellar Hypoplasia And Spasticity
Periventricular nodular heterotopia, Microcephaly, Cerebellar hypoplasia OMIM:618572
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Thrombocytopenia, Hepatosplenomegaly, Anemia OMIM:610539
Sub-Cortical Nodular Heterotopia
Hypoplasia of the corpus callosum, Subcortical heterotopia, Abnormality of neuronal migration, Po... ORPHA:101029
Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome
Cerebellar hypoplasia, Primary microcephaly, Polymicrogyria, Recurrent infections, Agenesis of co... ORPHA:171703
Lissencephaly 9 With Complex Brainstem Malformation
Hypoplasia of the brainstem, Pachygyria, Hypoplasia of the corpus callosum, Cerebellar hypoplasia... OMIM:618325
Cortical Dysplasia, Complex, With Other Brain Malformations 7
Pachygyria, Hypoplasia of the corpus callosum, Cerebellar hypoplasia, Unilateral polymicrogyria, ... OMIM:610031
Lissencephaly 5
Hypoplasia of the brainstem, Porencephalic cyst, Type II lissencephaly, Gray matter heterotopia, ... OMIM:615191
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement
Hypoplasia of the brainstem, Type II lissencephaly, Gray matter heterotopia, Abnormal cerebral wh... ORPHA:352682
Bilateral Striopallidodentate Calcinosis
Thrombocytopenia, Abnormality of the liver, Hepatomegaly ORPHA:1980
Periventricular Nodular Heterotopia 8
Periventricular nodular heterotopia, Microcephaly OMIM:618185
Cortical Dysplasia, Complex, With Other Brain Malformations 1
Hypoplasia of the brainstem, Hypoplasia of the corpus callosum, Polymicrogyria, Cortical dysplasi... OMIM:614039
Thrombocytopenia 4
Thrombocytopenia OMIM:612004
Lissencephaly 4
Cerebellar hypoplasia, Simplified gyral pattern, Microcephaly, Agenesis of corpus callosum, Lisse... OMIM:614019
Thrombocytopenic Purpura, Autoimmune
Thrombocytopenia OMIM:188030
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures
Abnormality of neuronal migration, Abnormal corpus callosum morphology, Cortical dysplasia, Macro... OMIM:618709
Periventricular Nodular Heterotopia 6
Periventricular nodular heterotopia, Gray matter heterotopia OMIM:615544
Band Heterotopia
Gray matter heterotopia, Polymicrogyria, Macrocephaly, Subcortical band heterotopia, Agenesis of ... OMIM:600348
Mental Retardation, Autosomal Dominant 13
Hypoplasia of the brainstem, Pachygyria, Hypoplasia of the corpus callosum, Cerebellar hypoplasia... OMIM:614563
Thrombocytopenia 2
Thrombocytopenia OMIM:188000
Bleeding Disorder, Platelet-Type, 9
Thrombocytopenia OMIM:614200
Lissencephaly 2
Thick cerebral cortex, Cerebellar hypoplasia, Microcephaly, 4-layered lissencephaly, Lissencephal... OMIM:257320
Polymicrogyria, Perisylvian, With Cerebellar Hypoplasia And Arthrogryposis
Cerebellar dysplasia, Polymicrogyria, Cerebellar hypoplasia OMIM:616531
Thrombocytopenia, Cyclic
Thrombocytopenia, Neutropenia, Cyclic neutropenia OMIM:188020
Deafness, Autosomal Dominant 1, With Or Without Thrombocytopenia
Thrombocytopenia OMIM:124900
Lissencephaly, X-Linked, 1
Pachygyria, Gray matter heterotopia, Agyria, Agenesis of corpus callosum, Lissencephaly OMIM:300067
Hemophagocytic Lymphohistiocytosis, Familial, 4
Hemophagocytosis, Neutropenia, Thrombocytopenia, Jaundice, Hepatomegaly, Anemia, Splenomegaly, Ly... OMIM:603552
Thrombocytopenia 7
Reduced platelet alpha granules, Impaired ADP-induced platelet aggregation, Impaired collagen-ind... OMIM:619130
Isolated Lissencephaly Type 1 Without Known Genetic Defects
Pachygyria, Agyria, Gray matter heterotopia ORPHA:1084
Gray Platelet Syndrome
Thrombocytopenia, Abnormal thrombocyte morphology, Splenomegaly ORPHA:721
Pyruvate Dehydrogenase E3-Binding Protein Deficiency
Agenesis of corpus callosum, Hypoplasia of the corpus callosum, Cerebral atrophy, Abnormal corpus... ORPHA:255182
Preeclampsia/Eclampsia 1
Thrombocytopenia, Elevated hepatic transaminase OMIM:189800
Periventricular Nodular Heterotopia 7
Periventricular nodular heterotopia, Hypoplasia of the corpus callosum, Cortical dysplasia, Gray ... OMIM:617201
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy
Hypoplasia of the corpus callosum, Cerebral cortical atrophy, Cerebellar atrophy, Atrophy/Degener... OMIM:617862
Amegakaryocytic Thrombocytopenia, Congenital
Thrombocytopenia, Pancytopenia, Amegakaryocytic thrombocytopenia OMIM:604498
Nodular Neuronal Heterotopia
Abnormality of neuronal migration ORPHA:2149
Ataxia, Combined Cerebellar And Peripheral, With Hearing Loss And Diabetes Mellitus
Atrophy/Degeneration affecting the brainstem, Cerebellar atrophy, Cerebral atrophy OMIM:616192
Acquired Idiopathic Sideroblastic Anemia
Hypochromic anemia, Thrombocytosis, Leukocytosis, Erythroid hyperplasia, Neutropenia, Hyposegment... ORPHA:75564
Osteopetrosis, Autosomal Recessive 8
Thrombocytopenia, Splenomegaly, Anemia, Hepatomegaly OMIM:615085
Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome
Amegakaryocytic thrombocytopenia ORPHA:71289
Bilateral Frontoparietal Polymicrogyria
Hypoplasia of the brainstem, Cerebellar vermis hypoplasia, Cerebellar dysplasia, Increased head c... ORPHA:101070
Microcephaly 17, Primary, Autosomal Recessive
Hypoplasia of the brainstem, Cerebellar hypoplasia, Simplified gyral pattern, Microcephaly, Micro... OMIM:617090
Beemer Lethal Malformation Syndrome
Thrombocytopenia OMIM:209970
Macrothrombocytopenia, Autosomal Dominant, Tubb1-Related
Macrothrombocytopenia OMIM:613112
Aicardi-Goutieres Syndrome 3
Thrombocytopenia, Hepatosplenomegaly, Elevated hepatic transaminase OMIM:610329
Pancytopenia And Occlusive Vascular Disease
Thrombocytopenia, Leukopenia, Pancytopenia, Anemia OMIM:167850
Neurodevelopmental Disorder With Seizures And Brain Atrophy
Hypoplasia of the brainstem, Hypoplasia of the corpus callosum, Cerebellar hypoplasia, Cerebral c... OMIM:619072
Septopreoptic Holoprosencephaly
Abnormality of the septum pellucidum, Rhombencephalosynapsis, Abnormal midbrain morphology, Megal... ORPHA:280195
Alpha-Thalassemia-Myelodysplastic Syndrome
Microcytic anemia, Neutropenia, Thrombocytopenia, HbH hemoglobin, Splenomegaly, Acute leukemia ORPHA:231401
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Hypoplasia of the brainstem, Pachygyria, Type II lissencephaly, Cerebellar cyst, Abnormal cerebra... OMIM:613153
3-Hydroxyisobutyric Aciduria
Microcephaly, Congenital intracerebral calcification, Abnormality of neuronal migration OMIM:236795
Congenital Muscular Dystrophy Without Intellectual Disability
Pachygyria, Gray matter heterotopia, Cerebellar cyst, Abnormal cerebral white matter morphology, ... ORPHA:370980
Aicardi-Goutieres Syndrome 4
Elevated hepatic transaminase, Pancytopenia, Thrombocytopenia, Hepatomegaly, Splenomegaly, Hepato... OMIM:610333
Symmetrical Thalamic Calcifications
Microcephaly, Cerebral calcification, Abnormality of neuronal migration ORPHA:1314
Bleeding Disorder, Platelet-Type, 16
Impaired platelet aggregation, Macrothrombocytopenia, Thrombocytopenia, Giant platelets, Anemia, ... OMIM:187800
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension
Thrombocytopenia OMIM:166990
Osteopetrosis, Autosomal Recessive 4
Reticulocytosis, Thrombocytopenia, Hepatomegaly, Anemia, Splenomegaly, Hepatosplenomegaly OMIM:611490
Polycythemia Vera
Thrombocytosis, Increased hematocrit, Leukocytosis, Increased hemoglobin, Thrombocytopenia, Incre... OMIM:263300
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Hemophagocytosis, Thrombocytopenia, Anemia, Splenomegaly, Hepatosplenomegaly, Lymphadenopathy OMIM:613101
Joubert Syndrome 30
Gray matter heterotopia, Cerebellar atrophy, Molar tooth sign on MRI, Dandy-Walker malformation, ... OMIM:617622
Congenital Muscular Dystrophy With Cerebellar Involvement
Hypoplasia of the brainstem, Diffuse white matter abnormalities, Type II lissencephaly, Gray matt... ORPHA:370959
Ceroid storage disease
Abnormality of the spleen, Hepatic failure OMIM:214200
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10
Cerebellar dysplasia, Type II lissencephaly OMIM:615041
Eosinophilia, Familial
Leukocytosis, Thrombocytopenia, Eosinophilia, Anemia OMIM:131400
Lysosomal Acid Lipase Deficiency
Bone-marrow foam cells, Cirrhosis, Elevated circulating aspartate aminotransferase concentration,... OMIM:278000
Dyskeratosis Congenita, Autosomal Recessive 2
Thrombocytopenia, Cirrhosis, Bone marrow hypocellularity, Pancytopenia OMIM:613987
Chronic Myeloid Leukemia
Thrombocytosis, Abnormal basophil morphology, Leukocytosis, Abnormal granulocyte morphology, Thro... ORPHA:521
Thrombocytopenia, Anemia, And Myelofibrosis
Thrombocytopenia, Anisopoikilocytosis, Anemia, Splenomegaly OMIM:617441
Congenital Amegakaryocytic Thrombocytopenia
Thrombocytopenia, Abnormal hemoglobin, Anemia ORPHA:3319
Ravine Syndrome
Atrophy/Degeneration affecting the brainstem, Abnormality of the basal ganglia, Abnormal brainste... ORPHA:99852
Mental Retardation, Autosomal Dominant 48
Hypoplasia of the corpus callosum, Cerebellar vermis hypoplasia, Cerebellar hypoplasia, Cerebella... OMIM:617751
Gómez-López-Hernández Syndrome
Abnormal cerebellum morphology, Cerebellar vermis hypoplasia, Abnormal brainstem morphology ORPHA:1532
Pontocerebellar Hypoplasia Type 10
Abnormal brainstem morphology, Abnormal cerebral cortex morphology, Simplified gyral pattern ORPHA:411493
Bone Marrow Failure Syndrome 2
Thrombocytopenia, Anemia, Bone marrow hypocellularity, Leukopenia OMIM:615715
Pulmonary Fibrosis-Hepatic Hyperplasia-Bone Marrow Hypoplasia Syndrome
Abnormality of the hepatic vasculature, Elevated hepatic transaminase, Nodular regenerative hyper... ORPHA:210136
Sea-Blue Histiocytosis
Thrombocytopenia, Sea-blue histiocytosis, Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy ORPHA:158029
Beta-Thalassemia
Microcytic anemia, Cholelithiasis, Thrombocytopenia, Hepatomegaly, Hepatitis, Anemia, Splenomegal... ORPHA:848
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 6
Hypoplasia of the brainstem, Pachygyria, Abnormal periventricular white matter morphology, Cerebe... OMIM:608840
Lissencephaly 6 With Microcephaly
Pachygyria, Periventricular heterotopia, Hypoplasia of the corpus callosum, Polymicrogyria, Cereb... OMIM:616212
Gaucher Disease, Type Iii
Pancytopenia, Thrombocytopenia, Splenomegaly, Hepatomegaly OMIM:231000
Lymphoproliferative Syndrome, X-Linked, 1
Lymphocytosis, Hemophagocytosis, Neutropenia, Pancytopenia, Thrombocytopenia, Hepatomegaly, Fulmi... OMIM:308240
Bleeding Disorder, Platelet-Type, 24
Impaired epinephrine-induced platelet aggregation, Impaired ADP-induced platelet aggregation, Inc... OMIM:619271
Developmental And Epileptic Encephalopathy 5
Hypoplasia of the corpus callosum, Cerebral atrophy, Microcephaly, Cerebellar atrophy, Atrophy/De... OMIM:613477
Maternal Hyperthermia-Induced Birth Defects
Microcephaly, Abnormality of neuronal migration ORPHA:2216
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Neutropenia, Thrombocytopenia, Acute myeloid leukemia, Pancytopenia, Anemia, Increased mean corpu... OMIM:619041
Mismatch Repair Cancer Syndrome 4
Agenesis of corpus callosum, Gray matter heterotopia OMIM:619101
Babesiosis
Hemolytic anemia, Thrombocytopenia, Jaundice, Hepatomegaly, Leukopenia, Splenomegaly, Hepatic fai... ORPHA:108
Refractory Anemia
Erythroid hypoplasia, Neutropenia, Normocytic anemia, Thrombocytopenia, Normochromic anemia, Anem... ORPHA:98826
Thrombocytopenia With Beta-Thalassemia, X-Linked
Reticulocytosis, Thrombocytopenia, Hemolytic anemia, Splenomegaly OMIM:314050
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11
Type II lissencephaly, Cerebellar cyst, Cerebellar hypoplasia, Cerebellar dysplasia, Polymicrogyr... OMIM:615181
Leishmaniasis
Elevated hepatic transaminase, Abnormal macrophage morphology, Pancytopenia, Thrombocytopenia, He... ORPHA:507
Platelet Signal Processing Defect
Thrombocytopenia, Impaired epinephrine-induced platelet aggregation, Impaired ADP-induced platele... OMIM:173590
Joubert Syndrome 10
Macrocephaly, Molar tooth sign on MRI, Recurrent infections, Cerebellar vermis hypoplasia OMIM:300804
Omenn Syndrome
Severe B lymphocytopenia, Thrombocytopenia, Hypoplasia of the thymus, Hepatomegaly, Eosinophilia,... OMIM:603554
Fanconi Anemia, Complementation Group T
Thrombocytopenia, Bone marrow hypocellularity, Pancytopenia, Anemia OMIM:616435
Congenital Toxoplasmosis
Elevated hepatic transaminase, Thrombocytopenia, Jaundice, Hepatomegaly, Anemia, Lymphadenopathy ORPHA:858
Poretti-Boltshauser Syndrome
Abnormal periventricular white matter morphology, Gray matter heterotopia, Cerebellar cyst, Cereb... OMIM:615960
Transaldolase Deficiency
Thrombocytopenia, Cirrhosis, Hepatosplenomegaly, Anemia ORPHA:101028
Macrothrombocytopenia and progressive sensorineural deafness
Thrombocytopenia, Giant platelets, Macrothrombocytopenia OMIM:600208
Aicardi-Goutieres Syndrome 7
Thrombocytopenia, Splenomegaly, Hepatomegaly OMIM:615846
Platelet Glycoprotein Iv Deficiency
Thrombocytopenia, Giant platelets OMIM:608404
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency
Megaloblastic anemia, Thrombocytopenia, Jaundice, Pancytopenia, Hepatomegaly OMIM:613839
Acute Myelomonocytic Leukemia
Leukocytosis, Thrombocytopenia, Eosinophilia, Anemia ORPHA:517
Bleeding Disorder, Platelet-Type, 15
Thrombocytopenia, Increased mean platelet volume, Platelet anisocytosis OMIM:615193
Specific Granule Deficiency 2
Thrombocytopenia, Absent neutrophil specific granules, Neutropenia, Anemia OMIM:617475
Lymphoproliferative Syndrome 1
Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Decreased proportion of CD4-positive he... OMIM:613011
Muscle-Eye-Brain Disease With Bilateral Multicystic Leucodystrophy
Cerebellar cyst, Hypoplasia of the corpus callosum, Cerebellar vermis hypoplasia, Polymicrogyria,... ORPHA:370997
Pontocerebellar Hypoplasia, Type 6
Cerebral atrophy, Microcephaly, Cerebellar hypoplasia, Cerebellar atrophy, Atrophy/Degeneration a... OMIM:611523
Ataxia-Intellectual Disability-Oculomotor Apraxia-Cerebellar Cysts Syndrome
Cerebellar cyst, Cerebellar dysplasia, Dilated fourth ventricle, Inferior vermis hypoplasia, Elon... ORPHA:370022
Primary Myelofibrosis
Poikilocytosis, Thrombocytosis, Leukocytosis, Extramedullary hematopoiesis, Pancytopenia, Thrombo... ORPHA:824
Hemimegalencephaly
Pachygyria, Gray matter heterotopia, Polymicrogyria, Hyperintensity of cerebral white matter on M... ORPHA:99802
Autosomal Recessive Primary Microcephaly
Pachygyria, Gray matter heterotopia, Hypoplasia of the frontal lobes, Microcephaly, Agenesis of c... ORPHA:2512
Gaucher Disease, Type Ii
Thrombocytopenia, Splenomegaly, Anemia, Hepatomegaly OMIM:230900
Pyruvate Dehydrogenase E1-Beta Deficiency
Hypoplasia of the brainstem, Pachygyria, Agenesis of corpus callosum, Periventricular heterotopia... ORPHA:255138
Asplenia, Isolated Congenital
Thrombocytosis, Howell-Jolly bodies, Asplenia OMIM:271400
Lissencephaly Syndrome, Norman-Roberts Type
Agenesis of corpus callosum, Hypoplasia of the corpus callosum, Abnormality of neuronal migration... ORPHA:89844
Thrombocythemia 1
Thrombocytosis, Impaired epinephrine-induced platelet aggregation, Impaired ADP-induced platelet ... OMIM:187950
Sebastian syndrome
Thrombocytopenia, Leukocyte inclusion bodies, Neutrophil inclusion bodies, Giant platelets OMIM:605249
Wilson Disease
Acute hepatitis, Cirrhosis, Elevated hepatic transaminase, Hepatic steatosis, Acute hepatic failu... ORPHA:905
Cernunnos-Xlf Deficiency
T lymphocytopenia, Lymphopenia, Thrombocytopenia, B lymphocytopenia, Anemia ORPHA:169079
Fanconi Anemia, Complementation Group G
Thrombocytopenia, Leukemia, Neutropenia, Anemia OMIM:614082
Infantile Spasms-Psychomotor Retardation-Progressive Brain Atrophy-Basal Ganglia Disease Syndrome
Abnormal brainstem MRI signal intensity, Abnormality of the basal ganglia, Small basal ganglia ORPHA:263410
Pseudo-Von Willebrand Disease
Intermittent thrombocytopenia OMIM:177820
Congenital Disorder Of Glycosylation, Type Iik
Thrombocytopenia, Elevated hepatic transaminase, Hepatomegaly OMIM:614727
Dk Phocomelia Syndrome
Thrombocytopenia OMIM:223340
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Neutropenia, Thrombocytopenia, Hepatomegaly, Splenomegaly, Pancreatitis, Anemia ORPHA:79312
Autoimmune Lymphoproliferative Syndrome, Type Iia
Iron deficiency anemia, Coombs-positive hemolytic anemia, Elevated proportion of CD4-negative, CD... OMIM:603909
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1
Thrombocytopenia, Acute myeloid leukemia, Increased mean corpuscular volume OMIM:252270
Non-Involuting Congenital Hemangioma
Thrombocytopenia, Hepatic hemangioma ORPHA:141179
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Impaired platelet aggregation, Elliptocytosis, Increased hemoglobin, Abnormal erythrocyte morphol... OMIM:300835
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Micronodular cirrhosis, Depletion of mitochondrial DNA in liver, Hepatocellular necrosis, Elevate... OMIM:251880
Roch-Leri Mesosomatous Lipomatosis
Thrombocytopenia ORPHA:529
Deafness-Lymphedema-Leukemia Syndrome
Myeloproliferative disorder, Leukocytosis, Thrombocytopenia, Hepatomegaly, Abnormal neutrophil co... ORPHA:3226
Forsythe-Wakeling Syndrome
Thrombocytopenia OMIM:613606
Vici Syndrome
Agenesis of corpus callosum, Gray matter heterotopia, Decreased circulating IgG2 level, Cerebella... ORPHA:1493
Neonatal Lupus Erythematosus
Hemolytic anemia, Elevated hepatic transaminase, Neutropenia, Pancytopenia, Thrombocytopenia, Hep... ORPHA:398124
Gamma-Heavy Chain Disease
Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Abnormal lymphocyte morphology, Thrombo... ORPHA:100026
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Abnormal CD4:CD8 ratio, Intermittent thrombocytopenia, Neutropenia, B lymphocytopenia, Splenomega... OMIM:150550
Giant platelet syndrome with thrombocytopenia
Thrombocytopenia, Giant platelets OMIM:137560
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13
Hypoplasia of the brainstem, Type II lissencephaly, Gray matter heterotopia, Cerebellar hypoplasi... OMIM:615287
Atypical Hemolytic Uremic Syndrome
Thrombocytopenia, Microangiopathic hemolytic anemia ORPHA:2134
Fetal Gaucher Disease
Pancytopenia, Thrombocytopenia, Hepatomegaly, Splenomegaly, Abnormality of the spleen ORPHA:85212
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Thrombocytopenia, Decreased liver function, Sideroblastic anemia OMIM:617021
Wiskott-Aldrich Syndrome 2
Thrombocytopenia, Decreased proportion of CD8-positive T cells OMIM:614493
Transaldolase Deficiency
Micronodular cirrhosis, Cirrhosis, Pancytopenia, Thrombocytopenia, Hepatic fibrosis, Hepatomegaly... OMIM:606003
Rapidly Involuting Congenital Hemangioma
Thrombocytopenia, Hepatic hemangioma ORPHA:141184
Rhabdoid Tumor
Thrombocytopenia, Neoplasm of the liver, Anemia, Lymphadenopathy ORPHA:69077
3-Methylglutaconic Aciduria Type 4
Thrombocytopenia, Decreased liver function ORPHA:67048
Fetal Parvovirus Syndrome
Thrombocytopenia, Anemia ORPHA:295
Ataxia-Pancytopenia Syndrome
Acute myelomonocytic leukemia, Neutropenia, Pancytopenia, Thrombocytopenia, Hypoplastic anemia, A... OMIM:159550
Diffuse Neonatal Hemangiomatosis
Thrombocytopenia, Anemia, Hepatomegaly ORPHA:2123
Joubert Syndrome 32
Macrocephaly, Polymicrogyria, Molar tooth sign on MRI, Abnormal cerebellum morphology OMIM:617757
Griscelli Syndrome
Abnormality of neutrophils, Thrombocytopenia, Jaundice, Hepatomegaly, Hepatitis, Leukopenia, Sple... ORPHA:381
Acalvaria
Aplasia/Hypoplasia of the cerebellum, Abnormality of neuronal migration ORPHA:945
Dysplastic Cortical Hyperostosis
Microcephaly, Abnormality of neuronal migration ORPHA:2204
Immunodeficiency With Hyper-Igm, Type 1
Cirrhosis, Hemolytic anemia, Sclerosing cholangitis, Neutropenia, Enlarged tonsils, Thrombocytope... OMIM:308230
Preeclampsia
Thrombocytopenia, Abnormality of the hepatic vasculature, Elevated hepatic transaminase ORPHA:275555
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Neutropenia, Thrombocytopenia, Hepatomegaly, Pancreatitis, Anemia ORPHA:289916
Microphthalmia-Brain Atrophy Syndrome
Corpus callosum atrophy, Cerebellar vermis atrophy, Diffuse cerebral atrophy, Atrophy/Degeneratio... ORPHA:77299
Congenital Rubella Syndrome
Thrombocytopenia, Jaundice, Hepatomegaly, Anemia, Splenomegaly ORPHA:290
Periventricular Nodular Heterotopia 1
Abnormality of neuronal migration, Gray matter heterotopia OMIM:300049
Congenital Disorder Of Glycosylation, Type Iii
Atrophy/Degeneration affecting the brainstem, Cerebellar atrophy, Cerebral atrophy, Microcephaly OMIM:613612
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome
Aplasia/Hypoplasia of the cerebellum, Microcephaly, Abnormality of neuronal migration ORPHA:2772
Bleeding Disorder, Platelet-Type, 20
Thrombocytopenia OMIM:616913
Von Willebrand Disease, Type 2
Thrombocytopenia OMIM:613554
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
Hypoplasia of the brainstem, Pachygyria, Type II lissencephaly, Gray matter heterotopia, Hypoplas... OMIM:614643
Osteopetrosis With Renal Tubular Acidosis
Thrombocytopenia, Splenomegaly, Anemia, Hepatomegaly ORPHA:2785
Vitamin B12-Unresponsive Methylmalonic Acidemia
Thrombocytopenia, Hepatomegaly, Pancreatitis, Anemia, Leukopenia, Macrocytic anemia ORPHA:27
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss
Thrombocytopenia, Leukocyte inclusion bodies, Neutrophil inclusion bodies, Giant platelets OMIM:155100
Nephrotic Syndrome, Type 7
Thrombocytopenia, Hemolytic anemia OMIM:615008
Malaria
Thrombocytopenia, Anemia ORPHA:673
Proteasome-Associated Autoinflammatory Syndrome 2
Thrombocytopenia, Lymphadenopathy OMIM:618048
Brain Small Vessel Disease 2
Polymicrogyria, Porencephalic cyst, Subcortical heterotopia, Schizencephaly OMIM:614483
Cach Syndrome
T2 hypointense thalamus, Progressive macrocephaly, Cerebral atrophy, Cerebellar atrophy, Dysgyria... ORPHA:135
Gray Platelet Syndrome
Abnormal number of alpha granules, Impaired thrombin-induced platelet aggregation, Impaired colla... OMIM:139090
Aggressive Systemic Mastocytosis
Increased proportion of CD25+ mast cells, Leukocytosis, Neutropenia, Pancytopenia, Thrombocytopen... ORPHA:98850
Joubert Syndrome 25
Molar tooth sign on MRI, Cerebellar hypoplasia OMIM:616781
Moyamoya Disease With Early-Onset Achalasia
Thrombocytopenia, Abnormal platelet aggregation ORPHA:401945
Combined Oxidative Phosphorylation Deficiency 14
Cerebral atrophy, Cerebellar atrophy, Atrophy/Degeneration affecting the brainstem, Diffuse cereb... OMIM:614946
Leber Congenital Amaurosis
Aplasia/Hypoplasia of the cerebellar vermis, Abnormality of neuronal migration ORPHA:65
Pontocerebellar Hypoplasia, Type 15
Thrombocytopenia, Chronic neutropenia, Anemia OMIM:619302
Transcobalamin Deficiency
Thrombocytopenia, Lymphopenia, Pancytopenia, Neutropenia ORPHA:859
Caroli Syndrome
Cirrhosis, Elevated hepatic transaminase, Leukocytosis, Intrahepatic cholestasis, Thrombocytopeni... ORPHA:480520
Walker-Warburg Syndrome
Pachygyria, Agenesis of corpus callosum, Absent septum pellucidum, Cerebellar hypoplasia, Abnorma... ORPHA:899
Achondroplasia
Recurrent otitis media, Megalencephaly, Brain stem compression OMIM:100800
Autosomal Recessive Chorioretinopathy-Microcephaly Syndrome
Aplasia/Hypoplasia of the cerebellum, Biparietal narrowing, Abnormality of neuronal migration, Ce... ORPHA:2518
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Elevated hepatic transaminase, Lymphadenitis, Autoimmune hemolytic anemia, Decreased proportion o... ORPHA:331206
Hypomelanosis Of Ito
Macrocephaly, Microcephaly, Cerebral atrophy, Gray matter heterotopia OMIM:300337
Gaucher Disease, Type I
Pancytopenia, Thrombocytopenia, Hepatomegaly, Splenomegaly, Hypersplenism, Anemia OMIM:230800
Pseudo-Torch Syndrome 1
Elevated hepatic transaminase, Thrombocytopenia, Jaundice, Hepatomegaly, Decreased liver function... OMIM:251290
Autoinflammation With Infantile Enterocolitis
Pancytopenia, Reduced natural killer cell count, Thrombocytopenia, Anemia, Splenomegaly OMIM:616050
Thrombocytopenia 5
Thrombocytopenia, Neutropenia, Anemia OMIM:616216
Vici Syndrome
Cutaneous anergy, Agenesis of corpus callosum, Recurrent fungal infections, Gray matter heterotop... OMIM:242840
Pontocerebellar Hypoplasia, Type 14
Thrombocytopenia, Chronic neutropenia OMIM:619301
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development
Fusion of the left and right thalami, Abnormality of the anterior commissure, Midline brainstem c... OMIM:617542
Cog4-Cdg
Fatal liver failure in infancy, Cirrhosis, Elevated hepatic transaminase, Thrombocytopenia, Hepat... ORPHA:263501
Bone Marrow Failure Syndrome 4
Thrombocytopenia, Anemia, Bone marrow hypocellularity, Leukopenia OMIM:618116
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Impairment), Type B, 1
Hypoplasia of the corpus callosum, Cerebellar dysplasia, Microcephaly, Cerebellar hypoplasia OMIM:613155
Wt Limb-Blood Syndrome
Thrombocytopenia, Hypoplastic anemia, Pancytopenia, Leukemia OMIM:194350
Intellectual Developmental Disorder, X-Linked 12
Abnormal cerebral white matter morphology, Cerebellar vermis hypoplasia, Abnormality of neuronal ... OMIM:300957
Congenital Disorder Of Glycosylation, Type Ih
Cholestasis, Thrombocytopenia, Hepatomegaly, Decreased liver function, Anemia OMIM:608104
Isolated Agammaglobulinemia
Abnormality of neutrophils, Abnormal lymphocyte morphology, Thrombocytopenia, Anemia, Abnormality... ORPHA:229717
X-Linked Cerebral-Cerebellar-Coloboma Syndrome
Cerebellar vermis hypoplasia, Abnormal brainstem morphology, Agenesis of cerebellar vermis, Dandy... ORPHA:163961
Letterer-Siwe Disease
Neutropenia, Thrombocytopenia, Jaundice, Anemia, Hepatosplenomegaly OMIM:246400
Lissencephaly Due To Lis1 Mutation
Cavum septum pellucidum, Pachygyria, Thick cerebral cortex, Anterior predominant thick cortex pac... ORPHA:95232
Thrombocytopenia With Congenital Dyserythropoietic Anemia
Hypochromic anemia, Macrothrombocytopenia, Anisocytosis, Anemia of inadequate production, Poikilo... ORPHA:67044
Fanconi Anemia, Complementation Group V
Thrombocytopenia, Bone marrow hypocellularity, Neutropenia, Anemia OMIM:617243
Phosphoglycerate Dehydrogenase Deficiency
Megaloblastic anemia, Thrombocytopenia OMIM:601815
Sengers Syndrome
Thrombocytopenia OMIM:212350
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Coombs-positive hemolytic anemia, Autoimmune thrombocytopenia, Neutropenia, Lymphadenopathy, Thro... OMIM:304790
+173470 integrin, beta-3
Post-transfusion thrombocytopenia, Decreased platelet glycoprotein IIb-IIIa, Impaired platelet ag... OMIM:173470
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom
Hypoplasia of the brainstem, Abnormal periventricular white matter morphology, Hypoplasia of the ... ORPHA:500159
Thrombocytopenia With Elevated Serum Iga And Renal Disease
Thrombocytopenia OMIM:314000
Cerebral Palsy, Spastic Quadriplegic, 3
Microcephaly, Gray matter heterotopia OMIM:617008
Myh9-Related Disease
Elevated hepatic transaminase, Congenital thrombocytopenia, Increased mean platelet volume, Giant... ORPHA:182050
Wolfram Syndrome, Mitochondrial Form
Megaloblastic anemia, Thrombocytopenia, Neutropenia, Sideroblastic anemia OMIM:598500
Crimean-Congo Hemorrhagic Fever
Elevated hepatic transaminase, Hepatic steatosis, Thrombocytopenia, Jaundice, Leukopenia ORPHA:99827
Fechtner syndrome
Thrombocytopenia, Leukocyte inclusion bodies, Neutrophil inclusion bodies, Giant platelets OMIM:153640
Bleeding Disorder, Platelet-Type, 19
Anemia, Macrothrombocytopenia OMIM:616176
Osteopetrosis, Autosomal Recessive 5
Extramedullary hematopoiesis, Pancytopenia, Thrombocytopenia, Hepatomegaly, Anemia, Splenomegaly,... OMIM:259720
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
T lymphocytopenia, Elevated hepatic transaminase, Decreased proportion of memory B cells, Chronic... ORPHA:79124
Isovaleric Acidemia
Thrombocytopenia, Bone marrow hypocellularity, Pancytopenia, Leukopenia OMIM:243500
Combined Immunodeficiency Due To Crac Channel Dysfunction
Hemolytic anemia, Thrombocytopenia, Hepatomegaly, Splenomegaly, Lymphadenopathy ORPHA:169090
Osteopetrosis, Autosomal Recessive 2
Extramedullary hematopoiesis, Pancytopenia, Thrombocytopenia, Anemia, Hepatosplenomegaly OMIM:259710
Gaucher Disease Type 1
Cirrhosis, Biliary tract obstruction, Pancytopenia, Thrombocytopenia, Hepatomegaly, Splenomegaly,... ORPHA:77259
Joubert Syndrome 4
Thickened superior cerebellar peduncle, Molar tooth sign on MRI, Elongated superior cerebellar pe... OMIM:609583
Stormorken Syndrome
Thrombocytopenia, Asplenia, Howell-Jolly bodies, Anemia OMIM:185070
Felty Syndrome
Abnormal lymphocyte morphology, Neutropenia, Thrombocytopenia, Hepatomegaly, Anemia, Splenomegaly... ORPHA:47612
Subependymal Nodular Heterotopia
Gray matter heterotopia, Abnormality of neuronal migration, Polymicrogyria, Focal cortical dyspla... ORPHA:101030
Prolidase Deficiency
Elevated circulating aspartate aminotransferase concentration, Thrombocytopenia, Prolonged neonat... OMIM:170100
Marburg Hemorrhagic Fever
Elevated hepatic transaminase, Thrombocytopenia, Jaundice, Leukopenia, Pancreatitis ORPHA:99826
Familial Hemophagocytic Lymphohistiocytosis
Hemophagocytosis, Elevated hepatic transaminase, Neutropenia, Thrombocytopenia, Jaundice, Hepatom... ORPHA:540
Pseudo-Torch Syndrome 2
Gray matter heterotopia, Cerebellar hypoplasia, Polymicrogyria, Cerebral calcification, Microcephaly OMIM:617397
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Erythroid hypoplasia, Monocytosis, Lymphopenia, Neutropenia, Hypoplasia of the thymus, Thrombocyt... OMIM:612541
Bernard-Soulier Syndrome
Thrombocytopenia, Impaired ristocetin-induced platelet aggregation, Giant platelets OMIM:231200
Idiopathic Aplastic Anemia
Neutropenia, Reticulocytopenia, Thrombocytopenia, Pancytopenia, Anemia, Bone marrow hypocellularity ORPHA:88
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2
Thrombocytopenia, Congenital thrombocytopenia, Neutropenia, Anemia OMIM:616738
Tularemia
Abnormal nasopharyngeal adenoid morphology, Leukocytosis, Lymphadenopathy, Thrombocytopenia, Anem... ORPHA:3392
Boutonneuse Fever
Elevated hepatic transaminase, Lymphadenopathy, Thrombocytopenia, Leukopenia, Cervical lymphadeno... ORPHA:83313
Immunodeficiency 10
Autoimmune hemolytic anemia, Thrombocytopenia, Lymphadenopathy OMIM:612783
Thyrocerebrorenal Syndrome
Thrombocytopenia ORPHA:3327
Slc35A1-Cdg
Thrombocytopenia, Giant platelets, Neutropenia, Abnormal platelet granules ORPHA:238459
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia
Thrombocytopenia, Lymphocytosis, Decreased mean platelet volume, Lymphadenopathy OMIM:617718
Autoinflammatory Syndrome, Familial, Behcet-Like
Thrombocytopenia, Lymphopenia, Hemolytic anemia OMIM:616744
Platelet Disorder, Familial, With Associated Myeloid Malignancy
Impaired platelet aggregation, Acute monocytic leukemia, Abnormal alpha granule content, Abnormal... OMIM:601399
Chediak-Higashi Syndrome
Hemophagocytosis, Abnormal dense granules, Impaired neutrophil bactericidal activity, Neutropenia... OMIM:214500
Amed Syndrome, Digenic
Thrombocytopenia, Acute myeloid leukemia, Anemia, Leukopenia, Bone marrow hypocellularity OMIM:619151
Proteasome-Associated Autoinflammatory Syndrome 3
Elevated hepatic transaminase, Lymphopenia, Thrombocytopenia, Hepatomegaly, Anemia, Splenomegaly,... OMIM:617591
Alkuraya-Kucinskas Syndrome
Hypoplasia of the brainstem, Aplasia/Hypoplasia of the corpus callosum, Gray matter heterotopia, ... OMIM:617822
Cyclic Neutropenia
Peritonitis, Recurrent tonsillitis, Decreased eosinophil count, Lymphopenia, Lymphadenopathy, Thr... ORPHA:2686
Oculocerebrocutaneous Syndrome
Hypoplasia of the corpus callosum, Agenesis of corpus callosum, Dandy-Walker malformation, Gray m... OMIM:164180
Immunodeficiency 46
Intermittent thrombocytopenia, Neutropenia, Anemia OMIM:616740
Neurocutaneous Melanocytosis
Aplasia/Hypoplasia of the cerebellum, Abnormality of neuronal migration, Encephalitis, Arnold-Chi... ORPHA:2481
Ebola Hemorrhagic Fever
Thrombocytopenia, Acute hepatic failure, Leukopenia ORPHA:319218
Aregenerative Anemia
Erythroid hypoplasia, Decreased proportion of CD4-positive helper T cells, Neutropenia, Reticuloc... ORPHA:101096
Ghosal Hematodiaphyseal Dysplasia
Thrombocytopenia, Leukopenia, Bone marrow hypocellularity, Refractory anemia OMIM:231095
Thrombotic Thrombocytopenic Purpura
Reticulocytosis, Microangiopathic hemolytic anemia, Thrombocytopenia ORPHA:54057
20Q11.2 Microdeletion Syndrome
Brainstem dysplasia ORPHA:444051
Hermansky-Pudlak Syndrome 9
Thrombocytopenia, Leukopenia OMIM:614171
Systemic Mastocytosis With Associated Hematologic Neoplasm
Myeloid leukemia, Leukocytosis, Chronic lymphatic leukemia, Lymphadenopathy, Thrombocytopenia, Ab... ORPHA:98849
Mitochondrial Complex I Deficiency, Nuclear Type 20
Thrombocytopenia, Hepatic failure, Microvesicular hepatic steatosis, Elevated hepatic transaminase OMIM:611126
Congenital Disorder Of Glycosylation, Type Iil
Cirrhosis, Elevated hepatic transaminase, Cholestasis, Pancytopenia, Thrombocytopenia, Hepatomega... OMIM:614576
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Thrombocytopenia, Pancreatitis, Leukopenia, Hepatomegaly OMIM:251000
Hemangioma-Thrombocytopenia Syndrome
Thrombocytopenia, Microangiopathic hemolytic anemia OMIM:141000
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure
Thrombocytopenia OMIM:254900
Aicardi-Goutieres Syndrome 1
Elevated hepatic transaminase, Thrombocytopenia, Hepatomegaly, Prolonged neonatal jaundice, Splen... OMIM:225750
Spinocerebellar Ataxia Type 1
Atrophy/Degeneration affecting the brainstem, Loss of Purkinje cells in the cerebellar vermis, Ab... ORPHA:98755
X-Linked Agammaglobulinemia
Neutropenia, Thrombocytopenia, Hepatitis, Anemia, Abnormality of the lymphatic system, Abnormalit... ORPHA:47
Acromelic Frontonasal Dysostosis
Gray matter heterotopia, Hypoplasia of the corpus callosum, Hypopituitarism, Retrocerebellar cyst... OMIM:603671
Alpha-N-Acetylgalactosaminidase Deficiency Type 1
Aplasia/Hypoplasia of the cerebellum, Abnormal brainstem morphology ORPHA:79279
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
T lymphocytopenia, Impaired lymphocyte transformation with phytohemagglutinin, Hypoplasia of the ... OMIM:619313
Meckel Syndrome 13
Molar tooth sign on MRI, Cerebellar hypoplasia OMIM:617562
Lennox-Gastaut Syndrome
Abnormal brainstem morphology ORPHA:2382
Tetrasomy 18P
Microcephaly, Abnormality of neuronal migration ORPHA:3307
Folate Malabsorption, Hereditary
Thrombocytopenia, Folate-responsive megaloblastic anemia, Neutropenia, Leukopenia OMIM:229050
Osteopetrosis, Autosomal Recessive 1
Pancytopenia, Thrombocytopenia, Hepatomegaly, Anemia, Splenomegaly OMIM:259700
Congenital Disorder Of Glycosylation, Type Ix
Thrombocytopenia, Decreased liver function OMIM:615597
Congenital Enterovirus Infection
Leukocytosis, Abnormal macrophage morphology, Neutropenia, Cholestasis, Thrombocytopenia, Hepatit... ORPHA:292
Hemophagocytic Lymphohistiocytosis, Familial, 2
Hemophagocytosis, Elevated hepatic transaminase, Pancytopenia, Jaundice, Thrombocytopenia, Hepato... OMIM:603553
Peroxisome Biogenesis Disorder 13A (Zellweger)
Abnormality of neuronal migration OMIM:614887
Thrombocytopenia, Paris-Trousseau Type
Thrombocytopenia OMIM:188025
Thrombocytopenia, X-Linked, With Or Without Dyserythropoietic Anemia
Acanthocytosis, Congenital thrombocytopenia, Poikilocytosis, Anemia of inadequate production OMIM:300367
Joubert Syndrome With Oculorenal Defect
Biparietal narrowing, Aplasia/Hypoplasia of the corpus callosum, Cerebellar vermis hypoplasia, Ab... ORPHA:2318
Hermansky-Pudlak Syndrome 2
Impaired ADP-induced platelet aggregation, Neutropenia, Thrombocytopenia, Hepatomegaly, Reduced n... OMIM:608233
Blue Rubber Bleb Nevus
Iron deficiency anemia, Thrombocytopenia, Abnormality of the liver OMIM:112200
Thyrocerebroretinal Syndrome
Thrombocytopenia OMIM:274240
Platelet Disorder, Undefined
Thrombocytopenia, Impaired platelet aggregation OMIM:173420
Dengue Fever
Thrombocytopenia, Leukopenia, Hepatomegaly ORPHA:99828
Noonan Syndrome 12
Thrombocytopenia, Lymphopenia OMIM:618624
Immunodeficiency, Common Variable, 12, With Autoimmunity
Autoimmune hemolytic anemia, Thrombocytopenia OMIM:616576
Propionic Acidemia
Neutropenia, Pancytopenia, Thrombocytopenia, Hepatomegaly, Anemia, Pancreatitis OMIM:606054
Mevalonic Aciduria
Fluctuating hepatomegaly, Elevated hepatic transaminase, Leukocytosis, Thrombocytopenia, Anemia, ... OMIM:610377
Thiamine-Responsive Megaloblastic Anemia Syndrome
Megaloblastic anemia, Thrombocytopenia ORPHA:49827
Congenital Disorder Of Glycosylation, Type Iif
Thrombocytopenia, Decreased platelet glycoprotein Ib, Neutropenia, Macrothrombocytopenia OMIM:603585
Hemophagocytic Lymphohistiocytosis, Familial, 1
Hemophagocytosis, Thrombocytopenia, Jaundice, Hepatomegaly, Splenomegaly, Anemia, Leukopenia, Lym... OMIM:267700
Bleeding Disorder, Platelet-Type, 21
Thrombocytopenia, Impaired platelet aggregation OMIM:617443
Kaposiform Lymphangiomatosis
Pancreatic cysts, Abnormal lymphatic vessel morphology, Abnormal spleen morphology, Thrombocytope... ORPHA:464329
Methylmalonic Aciduria, Cblb Type
Neutropenia, Pancytopenia, Thrombocytopenia, Hepatomegaly, Anemia OMIM:251110
Neu-Laxova Syndrome
Pachygyria, Absent septum pellucidum, Cerebellar hypoplasia, Abnormality of neuronal migration, P... ORPHA:2671
Immunodeficiency, Common Variable, 8, With Autoimmunity
Decreased proportion of class-switched memory B cells, Autoimmune thrombocytopenia, Autoimmune he... OMIM:614700
Joubert Syndrome 7
Abnormal corpus callosum morphology, Hypoplasia of the brainstem, Molar tooth sign on MRI, Brains... OMIM:611560
Slc35A2-Cdg
Cerebral white matter atrophy, Abnormal midbrain morphology, Hypoplasia of the corpus callosum, A... ORPHA:356961
Systemic Lupus Erythematosus
Thrombocytopenia, Hemolytic anemia, Leukopenia OMIM:152700
47,Xyy Syndrome
Increased circulating gonadotropin level, Cerebellar dysplasia, Abnormal brainstem morphology, Dy... ORPHA:8
Pelger-Huet Anomaly
Abnormality of neutrophils, Hyposegmentation of neutrophil nuclei, Neutropenia, Thrombocytopenia,... OMIM:169400
Joubert Syndrome 2
Thickened superior cerebellar peduncle, Hypoplasia of the brainstem, Brainstem dysplasia, Agenesi... OMIM:608091
Relapsing Fever
Elevated hepatic transaminase, Leukocytosis, Thrombocytopenia, Jaundice, Anemia, Leukopenia, Neut... ORPHA:91547
Crome Syndrome
Microcephaly, Cerebellar dysplasia OMIM:218900
Aicardi-Goutieres Syndrome 5
Thrombocytopenia OMIM:612952
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1
Hypoplasia of the brainstem, Cerebellar malformation, Pachygyria, Type II lissencephaly, Hypoplas... OMIM:236670
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies
Gray matter heterotopia, Simplified gyral pattern, Macrocephaly, Colpocephaly, Lissencephaly OMIM:615219
Pediatric-Onset Graves Disease
Elevated hepatic transaminase, Neutropenia in presence of anti-neutropil antibodies, Thrombocytop... ORPHA:525731
Methylmalonic Aciduria, Cbla Type
Neutropenia, Pancytopenia, Thrombocytopenia, Hepatomegaly, Anemia OMIM:251100
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2
Hypoplasia of the brainstem, Pachygyria, Type II lissencephaly, Cerebellar cyst, Partial absence ... OMIM:613150
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Abnormal periventricular white matter morphology, Periventricular heterotopia, Abnormal cerebral ... OMIM:618476
Quebec Platelet Disorder
Thrombocytopenia, Impaired epinephrine-induced platelet aggregation OMIM:601709
Acute Disseminated Encephalomyelitis
Abnormal brainstem MRI signal intensity, Diffuse white matter abnormalities, Hypointensity of cer... ORPHA:83597
Thrombotic Thrombocytopenic Purpura, Hereditary
Microangiopathic hemolytic anemia, Reticulocytosis, Thrombocytopenia, Jaundice, Prolonged neonata... OMIM:274150
Thiamine-Responsive Megaloblastic Anemia Syndrome
Sideroblastic anemia, Thrombocytopenia, Thiamine-responsive megaloblastic anemia OMIM:249270
Neonatal Adrenoleukodystrophy
Macrocephaly, Abnormality of neuronal migration ORPHA:44
Shwachman-Diamond Syndrome 1
Exocrine pancreatic insufficiency, Persistence of hemoglobin F, Elevated hepatic transaminase, Ne... OMIM:260400
Mucopolysaccharidosis-Plus Syndrome
Macrovesicular hepatic steatosis, Neutropenia, Thrombocytopenia, Hepatomegaly, Splenomegaly, Anem... OMIM:617303
Dyskeratosis Congenita, Autosomal Dominant 1
Cirrhosis, Lymphopenia, Thrombocytopenia, Aplastic anemia, Anemia, Bone marrow hypocellularity OMIM:127550
Galloway-Mowat Syndrome
Microcephaly, Pachygyria, Aqueductal stenosis, Abnormality of neuronal migration ORPHA:2065
Desmosterolosis
Pachygyria, Absent septum pellucidum, Abnormality of neuronal migration, Polymicrogyria, Abnormal... ORPHA:35107
Gangliocytoma
Abnormality of the pituitary gland, Elevated circulating growth hormone concentration, Pituitary ... ORPHA:251937
Good Syndrome
Aplasia/Hypoplasia of the thymus, Thrombocytopenia, Mediastinal lymphadenopathy, Anemia, Thymoma,... ORPHA:169105
Familial Acute Necrotizing Encephalopathy
Abnormal brainstem MRI signal intensity, Abnormality of thalamus morphology, Abnormal brainstem m... ORPHA:88619
Joubert Syndrome
Biparietal narrowing, Aplasia/Hypoplasia of the corpus callosum, Cerebellar vermis hypoplasia, Ab... ORPHA:475
Dyskeratosis Congenita, Autosomal Dominant 2
Pancytopenia, Thrombocytopenia, Aplastic anemia, Leukopenia, Bone marrow hypocellularity OMIM:613989
Joubert Syndrome 23
Dysplastic corpus callosum, Cerebellar dysplasia OMIM:616490
Mirage Syndrome
Lymphopenia, Thrombocytopenia, Anemia, Leukopenia, Hypoplastic spleen OMIM:617053
Congenital Disorder Of Glycosylation, Type Iig
Thrombocytopenia, Anemia OMIM:611209
Tufted Angioma
Thrombocytopenia, Anemia ORPHA:1063
Joubert Syndrome 1
Hypoplasia of the brainstem, Brainstem dysplasia, Cerebellar vermis hypoplasia, Agenesis of cereb... OMIM:213300
Shwachman-Diamond Syndrome 2
Exocrine pancreatic insufficiency, Hyperechogenic pancreas, Neutropenia, Normocytic anemia, Throm... OMIM:617941
Q Fever
Elevated hepatic transaminase, Thrombocytopenia, Hepatomegaly, Hepatitis, Splenomegaly, Anemia, C... ORPHA:781
Immune Thrombocytopenia
Thrombocytopenia ORPHA:3002
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency
Pachygyria, Abnormal periventricular white matter morphology, Agenesis of corpus callosum, Perive... ORPHA:468631
Juvenile-Onset Diabetes Mellitus-Central And Peripheral Neurodegeneration Syndrome
Atrophy/Degeneration affecting the brainstem, Cerebellar atrophy, Cerebral atrophy ORPHA:445062
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Thrombocytopenia, Neutropenia, Anemia OMIM:614857
Castleman Disease
Generalized lymphadenopathy, Follicular hyperplasia, Thrombocytopenia, Jaundice, Anemia, Mediasti... ORPHA:160
Autosomal Recessive Polycystic Kidney Disease
Pancreatic cysts, Periportal fibrosis, Biliary hyperplasia, Cholestasis, Thrombocytopenia, Jaundi... ORPHA:731
Refractory Anemia With Excess Blasts
Leukocytosis, Thrombocytopenia, Acute myeloid leukemia, Anemia of inadequate production, Bone mar... ORPHA:86839
Stt3B-Cdg
Thrombocytopenia ORPHA:370924
3C Syndrome
Aplasia/Hypoplasia of the cerebellum, Abnormality of neuronal migration, Macrocephaly, Recurrent ... ORPHA:7
Acute Promyelocytic Leukemia
Leukocytosis, Neutropenia, Pancytopenia, Thrombocytopenia, Anemia, Leukopenia, Lymphadenopathy ORPHA:520
Epilepsy, Hearing Loss, And Mental Retardation Syndrome
Thrombocytopenia OMIM:616577
Fragile X Syndrome
Macrocephaly, Periventricular heterotopia OMIM:300624
Thanatophoric Dysplasia Type 2
Macrocephaly, Abnormality of neuronal migration ORPHA:93274
Gaucher Disease, Perinatal Lethal
Thrombocytopenia, Hepatomegaly, Anemia, Splenomegaly, Hepatic failure, Hepatosplenomegaly OMIM:608013
Sepsis In Premature Infants
Leukocytosis, Neutropenia, Thrombocytopenia, Jaundice, Hepatomegaly, Decreased liver function, An... ORPHA:90051
Pearson Syndrome
Exocrine pancreatic insufficiency, Elevated hepatic transaminase, Reticulocytosis, Hepatic steato... ORPHA:699
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis
Thrombocytopenia, Leukocytosis ORPHA:83601
Immunodeficiency 59 And Hypoglycemia
Hypochromic anemia, Leukocytosis, Thrombocytopenia, Hepatomegaly, Granulocytopenia OMIM:233600
Gracile Bone Dysplasia
Hypoplastic spleen, Asplenia OMIM:602361
Thrombocytopenia 3
Thrombocytopenia, Decreased mean platelet volume OMIM:273900
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked
Thrombocytopenia, Increased mean platelet volume OMIM:300048
Lig4 Syndrome
Thrombocytopenia, Pancytopenia OMIM:606593
Dyskeratosis Congenita, Autosomal Recessive 1
Thrombocytopenia, Bone marrow hypocellularity, Aplastic anemia, Hepatic fibrosis OMIM:224230
Pseudo-Torch Syndrome 3
Lymphadenitis, Congenital thrombocytopenia, Anemia, Leukocytosis OMIM:618886
Chiari Malformation Type Ii
Arnold-Chiari malformation, Agenesis of corpus callosum, Gray matter heterotopia OMIM:207950
Arima Syndrome
Hypoplasia of the brainstem, Brainstem dysplasia, Gray matter heterotopia, Agenesis of cerebellar... OMIM:243910
Shwachman-Diamond Syndrome
Exocrine pancreatic insufficiency, Elevated hepatic transaminase, Chronic neutropenia, Neutropeni... ORPHA:811
Leukoencephalopathy-Spondyloepimetaphyseal Dysplasia Syndrome
Abnormal brainstem MRI signal intensity, Hypoplasia of the corpus callosum, Cerebral atrophy, Leu... ORPHA:83629
Li-Ghorbani-Weisz-Hubshman Syndrome
Hypoplasia of the corpus callosum, Periventricular heterotopia OMIM:618974
Meckel Syndrome, Type 4
Hypoplasia of the corpus callosum, Anencephaly, Agenesis of cerebellar vermis, Microcephaly, Mola... OMIM:611134
Farber Disease
Elevated hepatic transaminase, Intrahepatic cholestasis with episodic jaundice, Thrombocytopenia,... ORPHA:333
Adams-Oliver Syndrome
Cirrhosis, Thrombocytopenia, Congenital hepatic fibrosis, Leukopenia, Portal hypertension ORPHA:974
Acyl-Coa Dehydrogenase 9 Deficiency
Thrombocytopenia, Hepatic steatosis, Acute hepatic failure, Elevated hepatic transaminase ORPHA:99901
Thanatophoric Dysplasia
Macrocephaly, Gray matter heterotopia ORPHA:2655
Acquired Purpura Fulminans
Thrombocytopenia, Hepatic failure ORPHA:49566
Carnitine Palmitoyltransferase Ii Deficiency
Pachygyria, Cerebellar vermis hypoplasia, Abnormality of neuronal migration, Polymicrogyria, Abno... ORPHA:157
Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency
Thrombocytopenia, Bone marrow hypocellularity, Neutropenia, Anemia OMIM:614520
Chédiak-Higashi Syndrome
Increased proportion of CD25+ mast cells, Hemophagocytosis, Abnormal platelet function, Elevated ... ORPHA:167
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 1
Congenital thrombocytopenia, Aplastic anemia, Amegakaryocytic thrombocytopenia OMIM:605432
Bleeding Disorder, Platelet-Type, 17
Thrombocytopenia, Abnormal thrombocyte morphology, Absence of alpha granules OMIM:187900
Lassa Fever
Thrombocytopenia, Leukopenia, Lymphadenopathy ORPHA:99824
Neurodevelopmental Disorder With Dysmorphic Facies And Cerebellar Hypoplasia
Hypoplasia of the brainstem, Rhombencephalosynapsis, Hypoplasia of the corpus callosum, Fusion of... OMIM:619306
Adult Krabbe Disease
Abnormal corpus callosum morphology, Abnormality of the medulla oblongata, Abnormal pons morpholo... ORPHA:206448
Von Willebrand Disease, Type 3
Thrombocytopenia, Impaired platelet aggregation OMIM:277480
Hepatocellular Carcinoma
Abnormality of the hepatic vasculature, Thrombocytosis, Elevated hepatic transaminase, Hemobilia,... ORPHA:88673
Arnold-Chiari Malformation Type Ii
Brain stem compression, Aqueductal stenosis, Polymicrogyria, Cortical dysplasia, Abnormality of t... ORPHA:1136
Mitochondrial Complex Iii Deficiency, Nuclear Type 10
Thrombocytopenia, Normochromic anemia, Cholelithiasis OMIM:618775
Tangier Disease
Orange discolored tonsils, Chronic noninfectious lymphadenopathy, Thrombocytopenia, Anemia, Hepat... ORPHA:31150
Neurodevelopmental Disorder With Hypotonia, Neonatal Respiratory Insufficiency, And Thermodysregulation
Hypoplasia of the corpus callosum, Cerebral atrophy, Recurrent viral infections, Gray matter hete... OMIM:618797
Edinburgh Malformation Syndrome
Abnormality of neuronal migration ORPHA:1895
Joubert Syndrome 17
Molar tooth sign on MRI, Cerebellar vermis hypoplasia OMIM:614615
Necrotizing Enterocolitis
Peritonitis, Thrombocytopenia, Neutropenia, Leukocytosis ORPHA:391673
Schimke Immuno-Osseous Dysplasia
Abnormal proportion of naive CD4 T cells, Lymphopenia, Decreased proportion of naive CD8 T cells,... ORPHA:1830
Niemann-Pick Disease Type B
Cirrhosis, Autoimmune thrombocytopenia, Acute promyelocytic leukemia, Cholelithiasis, Neoplasm of... ORPHA:77293
Schimke Immunoosseous Dysplasia
Lymphopenia, Neutropenia, Thrombocytopenia, Abnormal T cell morphology, Anemia OMIM:242900
Hypertelorism-Hypospadias-Polysyndactyly Syndrome
Pachygyria, Abnormality of neuronal migration, Polymicrogyria, Abnormal cortical gyration, Macrog... ORPHA:2211
Idiopathic Hypereosinophilic Syndrome
Thrombocytosis, Elevated hepatic transaminase, Leukocytosis, Generalized lymphadenopathy, Thrombo... ORPHA:3260
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked
Thrombocytopenia, Elevated hepatic transaminase, Leukopenia, Hepatomegaly OMIM:301056
Oculocerebral Hypopigmentation Syndrome, Preus Type
Aplasia/Hypoplasia of the cerebellum, Abnormality of the diencephalon, Abnormal brainstem morphology ORPHA:2720
Shigellosis
Peritonitis, Microangiopathic hemolytic anemia, Splenic abscess, Leukocytosis, Cholestasis, Throm... ORPHA:810
Familial Cerebral Saccular Aneurysm
Encephalomalacia, Abnormal brainstem morphology ORPHA:231160
Familial Infantile Myoclonic Epilepsy
Periventricular nodular heterotopia, Abnormal hippocampus morphology, Cerebellar atrophy, Thick c... ORPHA:352582
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Basal ganglia cysts, Intracerebral periventricular calcifications, Abnormality of neuronal migrat... OMIM:608836
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3
Thrombocytopenia, Microangiopathic hemolytic anemia, Anemia OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2
Thrombocytopenia, Microangiopathic hemolytic anemia, Anemia OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5
Thrombocytopenia, Microangiopathic hemolytic anemia, Anemia OMIM:612925
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4
Thrombocytopenia, Microangiopathic hemolytic anemia, Anemia OMIM:612924
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6
Thrombocytopenia, Microangiopathic hemolytic anemia, Anemia OMIM:612926
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Pachygyria, Cerebellar vermis hypoplasia, Intracerebral periventricular calcifications, Abnormali... ORPHA:228308
Thanatophoric Dysplasia, Type I
Macrocephaly, Gray matter heterotopia OMIM:187600
Alg11-Cdg
Cerebral white matter atrophy, Gray matter heterotopia, Abnormal cerebral white matter morphology... ORPHA:280071
Lathosterolosis
Intrahepatic cholestasis, Anisopoikilocytosis, Thrombocytopenia, Hepatomegaly, Hepatic failure, A... ORPHA:46059
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Thrombocytopenia, Anemia, Leukopenia OMIM:613845
Kasabach-Merritt Syndrome
Microangiopathic hemolytic anemia, Reticulocytosis, Abnormal lymphatic vessel morphology, Neutrop... ORPHA:2330
Bohring-Opitz Syndrome
Hypoplasia of the brainstem, Gray matter heterotopia, Hypoplasia of the corpus callosum, Microcep... OMIM:605039
Drug-Induced Lupus Erythematosus
Thrombocytopenia, Anemia ORPHA:231111
Hereditary Folate Malabsorption
Pancytopenia, Thrombocytopenia, Eosinophilia, Megaloblastic anemia ORPHA:90045
6Q Terminal Deletion Syndrome
Gray matter heterotopia, Periventricular heterotopia, Hypoplasia of the corpus callosum, Abnormal... ORPHA:75857
Avian Influenza
Elevated hepatic transaminase, Lymphopenia, Thrombocytopenia, Hepatitis, Leukopenia ORPHA:454836
Gaucher Disease Type 3
Pancytopenia, Thrombocytopenia, Hepatomegaly, Anemia, Splenomegaly ORPHA:77261
Leigh Syndrome With Cardiomyopathy
Abnormality of thalamus morphology, Diffuse white matter abnormalities, Basal ganglia gliosis, Ab... ORPHA:70474
Coffin-Lowry Syndrome
Aplasia/Hypoplasia of the cerebellum, Aplasia/Hypoplasia of the corpus callosum, Abnormality of n... ORPHA:192
Lysinuric Protein Intolerance
Hemophagocytosis, Thrombocytopenia, Hepatomegaly, Splenomegaly, Anemia, Leukopenia, Pancreatitis OMIM:222700
Man1B1-Cdg
Cerebellar hypoplasia, Periventricular heterotopia ORPHA:397941
Pediatric Systemic Lupus Erythematosus
Microangiopathic hemolytic anemia, Lymphopenia, Thrombocytopenia, Leukopenia, Lymphadenopathy ORPHA:93552
Aicardi Syndrome
Cavum septum pellucidum, Pachygyria, Arnold-Chiari malformation, Gray matter heterotopia, Cerebel... OMIM:304050
Wolfram Syndrome 1
Sideroblastic anemia, Thrombocytopenia, Megaloblastic anemia OMIM:222300
Porphyria, Congenital Erythropoietic
Thrombocytopenia, Hemolytic anemia, Cholelithiasis, Splenomegaly OMIM:263700
Orofaciodigital Syndrome Type 6
Hypothalamic hamartoma, Biparietal narrowing, Aplasia/Hypoplasia of the corpus callosum, Cerebell... ORPHA:2754
Kikuchi-Fujimoto Disease
Lymphocytosis, Elevated hepatic transaminase, Generalized lymphadenopathy, Neutropenia, Thrombocy... ORPHA:50918
Thrombocytopenia 6
Thrombocytopenia OMIM:616937
Ethylmalonic Encephalopathy
Abnormal brainstem MRI signal intensity, Abnormal basal ganglia MRI signal intensity ORPHA:51188
Methylmalonic Aciduria And Homocystinuria, Cblf Type
Pancytopenia, Thrombocytopenia, Neutropenia, Megaloblastic anemia OMIM:277380
Orofaciodigital Syndrome Xvi
Molar tooth sign on MRI, Gray matter heterotopia OMIM:617563
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome
Lymphopenia, Neutropenia, Reticulocytopenia, Thrombocytopenia, B lymphocytopenia, Anemia, Leukope... ORPHA:508542
Hermansky-Pudlak Syndrome 5
Thrombocytopenia OMIM:614074
Dyskeratosis Congenita, Autosomal Dominant 3
Pancytopenia, Thrombocytopenia, Aplastic anemia, Leukopenia, Bone marrow hypocellularity OMIM:613990
Smith-Kingsmore Syndrome
Thrombocytopenia OMIM:616638
Joubert Syndrome 6
Thickened superior cerebellar peduncle, Molar tooth sign on MRI, Elongated superior cerebellar pe... OMIM:610688
Holocarboxylase Synthetase Deficiency
Thrombocytopenia ORPHA:79242
Bilateral Perisylvian Polymicrogyria
Cerebellar vermis hypoplasia, Cerebellar dysplasia, Ectopic posterior pituitary, Abnormality of n... ORPHA:98889
Miller-Dieker Lissencephaly Syndrome
Cavum septum pellucidum, Pachygyria, Gray matter heterotopia, Hypoplasia of the corpus callosum, ... OMIM:247200
Japanese Encephalitis
Abnormality of thalamus morphology, Increased circulating IgM level, Focal T2 hyperintense thalam... ORPHA:79139
Diffuse Alveolar Hemorrhage
Thrombocytopenia, Anemia, Leukocytosis ORPHA:90060
Beemer-Ertbruggen Syndrome
Thrombocytopenia ORPHA:1237
Amoebiasis Due To Free-Living Amoebae
Abnormal brainstem MRI signal intensity, Unusual skin infection, Abnormal midbrain morphology, Ab... ORPHA:68
Snakebite Envenomation
Thrombocytopenia ORPHA:449285
Intellectual Developmental Disorder, Autosomal Dominant 64
Periventricular nodular heterotopia, Microcephaly, Cerebellar hypoplasia OMIM:619188
Leigh Syndrome
Abnormal brainstem MRI signal intensity, Focal T2 hyperintense basal ganglia lesion, Severe viral... ORPHA:506
Radio-Tartaglia Syndrome
Microcephaly, Agenesis of corpus callosum, Gray matter heterotopia OMIM:619312
Thrombocytopenia 1
Decreased mean platelet volume, Intermittent thrombocytopenia, Congenital thrombocytopenia OMIM:313900
Aprosencephaly And Cerebellar Dysgenesis
Poorly formed metencephalon, Cerebellar dysplasia, Aprosencephaly, Absent mesencephalon OMIM:601374
Hoyeraal-Hreidarsson Syndrome
Thrombocytopenia, Abnormal leukocyte morphology, Bone marrow hypocellularity, Anemia ORPHA:3322
Hemorrhagic Fever-Renal Syndrome
Thrombocytopenia, Elevated hepatic transaminase, Leukocytosis ORPHA:340
Cerebrofacioarticular Syndrome
Gray matter heterotopia, Hypoplasia of the corpus callosum, Cerebellar vermis hypoplasia, Dysplas... ORPHA:314679
Van Maldergem Syndrome 1
Pachygyria, Gray matter heterotopia, Hypoplasia of the corpus callosum, Simplified gyral pattern,... OMIM:601390
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome
Thrombocytopenia, Hypochromic microcytic anemia ORPHA:3240
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Hypoplasia of the corpus callosum, Abnormality of neuronal migration, Cerebral cortical atrophy, ... ORPHA:464311
Fanconi Anemia, Complementation Group E
Neutropenia, Reticulocytopenia, Pancytopenia, Thrombocytopenia, Anemia, Leukemia OMIM:600901
Dyskeratosis Congenita
Cirrhosis, Abnormality of neutrophils, Thrombocytopenia, Hepatomegaly, Anemia, Splenomegaly, Hepa... ORPHA:1775
Cerebellar-Facial-Dental Syndrome
Hypoplasia of the brainstem, Abnormal midbrain morphology, Hypoplasia of the corpus callosum, Cer... ORPHA:444072
Fanconi Anemia, Complementation Group A
Neutropenia, Reticulocytopenia, Pancytopenia, Thrombocytopenia, Anemia, Leukemia OMIM:227650
Fanconi Anemia, Complementation Group C
Neutropenia, Reticulocytopenia, Pancytopenia, Thrombocytopenia, Anemia, Leukemia, Bone marrow hyp... OMIM:227645
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
Reticulocytosis, Microangiopathic hemolytic anemia, Thrombocytopenia, Schistocytosis OMIM:235400
16P13.11 Microdeletion Syndrome
Microcephaly, Agenesis of corpus callosum, Abnormality of neuronal migration ORPHA:261236
Hellp Syndrome
Microangiopathic hemolytic anemia, Hemolytic anemia, Elevated hepatic transaminase, Decreased mea... ORPHA:244242
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Lymphopenia, Neutropenia in presence of... ORPHA:391487
Fanconi Anemia, Complementation Group D2
Neutropenia, Reticulocytopenia, Pancytopenia, Thrombocytopenia, Anemia, Leukemia, Bone marrow hyp... OMIM:227646
9Q21.13 Microdeletion Syndrome
Aplasia/Hypoplasia of the corpus callosum, Gray matter heterotopia ORPHA:531151
Brucellosis