Gene Summary

ring finger protein 19B
Ibrdc3,  4930555L03Rik,  4930534K13Rik

IMPC Phenotype Summary

Not Significant
Not tested


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
no spontaneous movement Rnf19bem1(IMPC)Ccpcz HOM E18.5 0.00
preweaning lethality, incomplete penetrance Rnf19bem1(IMPC)Ccpcz HOM   Early adult 0.00
abnormal heart morphology Rnf19bem1(IMPC)Ccpcz HET Early adult 0.00
thrombocytopenia Rnf19bem1(IMPC)Ccpcz HET Early adult 6.05×10-05
corneal opacity Rnf19bem1(IMPC)Ccpcz HET   Early adult 4.24×10-05
enlarged heart Rnf19bem1(IMPC)Ccpcz HET Early adult 0.00
increased eosinophil cell number Rnf19bem1(IMPC)Ccpcz HET Early adult 4.93×10-05

Download data as:  TSV  XLS

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Viewing: all phenotypes

lacZ Expression

Expression data not available

Associated Images

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


XRay Images Hind Leg and Hip

40 Images


XRay Images Whole Body Dorso Ventral

40 Images


XRay Images Skull Dorso Ventral Orientation

20 Images


XRay Images Skull Lateral Orientation

20 Images


XRay Images Forepaw

20 Images


XRay Images Whole Body Lateral Orientation

20 Images

MicroCT E18.5

Embryo reconstruction

3 Images

Human diseases caused by Rnf19b 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.

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

The table below shows human diseases predicted to be associated to Rnf19b by phenotypic similarity.

Disease Similarity of
Matching phenotypes Source
Eosinophilia, Familial
Anemia, Myocardial eosinophilic infiltration, Leukocytosis, Thrombocytopenia, Eosinophilia OMIM:131400
Hypereosinophilic Syndrome, Idiopathic
Endocardial fibrosis, Hepatomegaly, Restrictive cardiomyopathy, Myeloproliferative disorder, Sple... OMIM:607685
Corneal Dystrophy, Endothelial, X-Linked
Band keratopathy, Corneal dystrophy, Corneal opacity OMIM:300779
Corneal Dystrophy, Posterior Polymorphous, 2
Corneal dystrophy, Corneal opacity OMIM:609140
Immunodeficiency 88
Eosinophilia OMIM:619630
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Anemia, Thrombocytosis, Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Monoc... OMIM:202700
Acute Myelomonocytic Leukemia
Eosinophilia, Thrombocytopenia, Anemia, Leukocytosis ORPHA:517
Cardiomegaly OMIM:227150
Neutropenia, Lethal Congenital, With Eosinophilia
Eosinophilia, Neutropenia OMIM:257100
Myeloproliferative Disorder, Chronic, With Eosinophilia
Eosinophilia, Myeloproliferative disorder OMIM:131440
Juvenile Temporal Arteritis
Eosinophilia, Leukocytosis, Conjunctivitis ORPHA:26137
Nevoid Hypermelanosis, Linear And Whorled
Eosinophilia OMIM:614323
Bilateral Striopallidodentate Calcinosis
Corneal opacity, Hepatomegaly, Thrombocytopenia ORPHA:1980
Immune Thrombocytopenia
Thrombocytopenia OMIM:188030
Cataract-Microcornea Syndrome
Microcornea, Corneal dystrophy, Corneal opacity, Cataract, Iris coloboma ORPHA:1377
Ichthyosis-Prematurity Syndrome
Eosinophilia ORPHA:88621
Corneal Dystrophy-Perceptive Deafness Syndrome
Corneal dystrophy, Corneal opacity ORPHA:1490
Dermoids Of Cornea
Corneal opacity OMIM:304730
Bleeding Disorder, Platelet-Type, 9
Thrombocytopenia OMIM:614200
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Anemia, Abnormal platelet function, Thrombocytopenia, Splenomegaly, Abnormal hemoglobin ORPHA:231393
Glaucoma 3, Primary Congenital, D
Primary congenital glaucoma, Ectopia lentis, Corneal opacity OMIM:613086
Loeffler Endocarditis
Left atrial enlargement, Endocardial fibrosis, Myocardial eosinophilic infiltration, Abnormal mor... ORPHA:75566
Congenital Amegakaryocytic Thrombocytopenia
Thrombocytopenia, Anemia, Abnormal hemoglobin, Abnormal cardiac septum morphology ORPHA:3319
Thrombocytopenia 7
Impaired ADP-induced platelet aggregation, Impaired collagen-induced platelet aggregation, Reduce... OMIM:619130
Amegakaryocytic Thrombocytopenia, Congenital, 1
Thrombocytopenia, Amegakaryocytic thrombocytopenia, Pancytopenia OMIM:604498
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Corneal opacity, Persistent pupillary membrane, Abnormal heart morphology, Cataract, Aplasia/Hypo... ORPHA:1067
Macrosomia-Microphthalmia-Cleft Palate Syndrome
Microcornea, Hepatomegaly, Corneal opacity ORPHA:2432
Macrothrombocytopenia, Isolated, 2, Autosomal Dominant
Macrothrombocytopenia OMIM:619840
Corneal Dystrophy, Groenouw Type I
Cataract, Nodular corneal dystrophy, Granular corneal dystrophy, Punctate corneal dystrophy OMIM:121900
Erythroleukemia, Familial, Susceptibility To
Hepatomegaly, Anemia, Acute myeloid leukemia, Thrombocytopenia, Splenomegaly, Erythroid hyperplas... OMIM:133180
Spinocerebellar Degeneration-Corneal Dystrophy Syndrome
Corneal dystrophy, Corneal opacity ORPHA:3177
Myalgia-Eosinophilia Syndrome Associated With Tryptophan
Eosinophilia, Lymphopenia ORPHA:2582
Lattice Corneal Dystrophy Type I
Recurrent corneal erosions, Astigmatism, Central posterior corneal opacity, Central opacification... ORPHA:98964
Immunodeficiency 32B
Hepatomegaly, Anemia, Monocytopenia, Neutrophilia, Thrombocytopenia, Splenomegaly, Eosinophilia, ... OMIM:226990
Generalized Eruptive Histiocytosis
Hypereosinophilia, Histiocytosis, Leukemia ORPHA:157991
Wiskott-Aldrich Syndrome 2
Defective T cell proliferation, Reduced natural killer cell activity OMIM:614493
Thiel-Behnke Corneal Dystrophy
Recurrent corneal erosions, Astigmatism, Subepithelial corneal opacities, Central corneal dystrop... ORPHA:98960
Immunodeficiency 103, Susceptibility To Fungal Infections
Abnormal natural killer cell count, Abnormal proportion of CD8-positive T cells, Abnormal proport... OMIM:212050
Autoimmune Lymphoproliferative Syndrome
Autoimmune hemolytic anemia, Hepatomegaly, Iron deficiency anemia, Neutropenia in presence of ant... OMIM:601859
Severe Combined Immunodeficiency, X-Linked
Decreased circulating IgE, Decreased circulating IgG level, Decreased circulating total IgM, Agam... OMIM:300400
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Enlarged kidney, Hepatomegaly, Anemia, Thrombocytopenia, Splenomegaly, Leukopenia, Extramedullary... OMIM:615285
Bleeding Disorder, Platelet-Type, 16
Platelet anisocytosis, Giant platelets, Anemia, Impaired platelet aggregation, Thrombocytopenia, ... OMIM:187800
Eosinophil Peroxidase Deficiency
Eosinophil nuclear hypersegmentation OMIM:261500
Anterior Segment Dysgenesis 8
Microphakia, Iris transillumination defect, Iridodonesis, Corneal stromal edema, Corneal opacity,... OMIM:617319
Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome
Amegakaryocytic thrombocytopenia ORPHA:71289
Cataract 21, Multiple Types
Microcornea, Corneal opacity, Cortical pulverulent cataract, Peters anomaly, Cerulean cataract, I... OMIM:610202
Beemer Lethal Malformation Syndrome
Thrombocytopenia OMIM:209970
Neutropenia, Severe Congenital, 10, Autosomal Recessive
Anorectal abscess, Anemia, Thrombocytopenia, Monocytosis, Neutropenia OMIM:620534
Schnyder Corneal Dystrophy
Corneal dystrophy, Crystalline corneal dystrophy OMIM:121800
Central Cloudy Dystrophy Of Francois
Corneal dystrophy, Central corneal dystrophy OMIM:217600
Decreased eosinophil count OMIM:131430
Fetal Parvovirus Syndrome
Thrombocytopenia, Anemia, Hypertrophic cardiomyopathy ORPHA:295
Corneal opacity ORPHA:351
Kimura Disease
Eosinophilia ORPHA:482
Keratitis, Hereditary
Opacification of the corneal stroma, Keratitis OMIM:148190
Mucous Membrane Pemphigoid
Corneal opacity ORPHA:46486
Morquio Syndrome C
Corneal opacity OMIM:252300
X-Linked Corneal Dermoid
Corneal opacity, Abnormal pupil morphology ORPHA:1661
Macular Dystrophy, Corneal
Recurrent corneal erosions, Corneal dystrophy, Punctate opacification of the cornea OMIM:217800
Cardiomyopathy, Dilated, 1I
Cardiomegaly, Dilated cardiomyopathy OMIM:604765
Autoimmune Lymphoproliferative Syndrome, Type Iia
Autoimmune hemolytic anemia, Hepatomegaly, Iron deficiency anemia, Neutropenia in presence of ant... OMIM:603909
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension
Thrombocytopenia OMIM:166990
Anemia, Sideroblastic, 5
Reduced hematocrit, Hypochromic microcytic anemia, Anemia, Thrombocytopenia, Neutropenia OMIM:619523
Thrombocytopenia 4
Thrombocytopenia, Abnormal platelet volume OMIM:612004
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Anemia, Acute myeloid leukemia, Pancytopenia, Increased mean corpuscular volume, Bone marrow hypo... OMIM:619041
Cornea Plana 2, Autosomal Recessive
Corneal arcus, Decreased corneal thickness, Corneal opacity, Sclerocornea, Flat cornea OMIM:217300
3-Methylglutaconic Aciduria Type 4
Cataract, Cardiomyopathy, Iris hypopigmentation, Thrombocytopenia ORPHA:67048
Corneal Dystrophy, Fuchs Endothelial, 3
Corneal stromal edema, Corneal opacity, Corneal guttata OMIM:613267
Deafness, Autosomal Dominant 1, With Or Without Thrombocytopenia
Impaired platelet aggregation, Thrombocytopenia, Macrothrombocytopenia OMIM:124900
Hyper-Ige Syndrome 4B, Autosomal Recessive, With Recurrent Infections
Eosinophilia, Keratitis OMIM:618523
Thrombocytopenia 9
Thrombocytopenia, Abnormal platelet aggregation OMIM:620478
Ring Dermoid Of Cornea
Abnormal cornea morphology, Abnormal corneal limbus morphology, Corneal astigmatism, Abnormal con... OMIM:180550
Acquired Idiopathic Sideroblastic Anemia
Normocytic anemia, Hepatomegaly, Acute myeloid leukemia, Normochromic anemia, Pancytopenia, Anemi... ORPHA:75564
Spinocerebellar Degeneration And Corneal Dystrophy
Corneal stromal edema, Corneal dystrophy, Opacification of the corneal stroma OMIM:271310
Immunodeficiency 97 With Autoinflammation
Autoimmune hemolytic anemia, Decreased proportion of CD8-positive T cells, Hemophagocytosis, Decr... OMIM:619802
Bleeding Disorder, Platelet-Type, 24
Platelet anisocytosis, Impaired epinephrine-induced platelet aggregation, Impaired ADP-induced pl... OMIM:619271
Immunodeficiency 7
Autoimmune hemolytic anemia, Hepatomegaly, Splenomegaly, Hypereosinophilia, Neutropenia OMIM:615387
Anterior Segment Dysgenesis 7
Ocular anterior segment dysgenesis, Microcornea, Corneal opacity, Sclerocornea, Cataract, Buphtha... OMIM:269400
Alpha-Thalassemia-Myelodysplastic Syndrome
Acute leukemia, HbH hemoglobin, Thrombocytopenia, Splenomegaly, Microcytic anemia, Neutropenia ORPHA:231401
Corneal Dystrophy, Reis-Bucklers Type
Opacification of the corneal stroma, Corneal dystrophy, Corneal opacity, Corneal erosion OMIM:608470
Bleeding Disorder, Platelet-Type, 15
Platelet anisocytosis, Impaired clot retraction, Impaired ADP-induced platelet aggregation, Incre... OMIM:615193
Congenital Rubella Syndrome
Hepatomegaly, Anemia, Aplasia/Hypoplasia of the iris, Corneal opacity, Thrombocytopenia, Splenome... ORPHA:290
Bleeding Disorder, Platelet-Type, 19
Macrothrombocytopenia, Thrombocytopenia, Anemia OMIM:616176
Chronic Myeloid Leukemia
Myeloproliferative disorder, Leukocytosis, Abnormal granulocyte morphology, Thrombocytopenia, Spl... ORPHA:521
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Decreased proportion of CD8-positive T cells, Decreased proportion of CD3-positive T cells, Lymph... ORPHA:169154
Preeclampsia/Eclampsia 1
Thrombocytopenia OMIM:189800
Diaph1-Related Sensorineural Hearing Loss-Thrombocytopenia Syndrome
Increased mean platelet volume, Thrombocytopenia, Iron deficiency anemia, Neutropenia ORPHA:494444
Hurler-Scheie Syndrome
Hepatomegaly, Abnormal heart valve morphology, Cardiomyopathy, Corneal opacity, Splenomegaly ORPHA:93476
Wells Syndrome
Eosinophilia ORPHA:901
Sea-Blue Histiocyte Disease
Sea-blue histiocytosis, Thrombocytopenia, Splenomegaly OMIM:269600
Gray Platelet Syndrome
Abnormality of thrombocytes, Thrombocytopenia, Splenomegaly ORPHA:721
Platelet Signal Processing Defect
Impaired collagen-induced platelet aggregation, Thrombocytopenia, Impaired epinephrine-induced pl... OMIM:173590
Mucolipidosis Type Iii
Abnormal heart valve morphology, Abnormal aortic valve morphology, Corneal opacity ORPHA:577
Omenn Syndrome
Hepatomegaly, Anemia, B lymphocytopenia, Hypoplasia of the thymus, Severe B lymphocytopenia, Thro... OMIM:603554
X-Linked Endothelial Corneal Dystrophy
Abnormal corneal endothelium morphology, Nuclear cataract, Corneal opacity, Band keratopathy ORPHA:293621
Hemophagocytic Lymphohistiocytosis, Familial, 3
Reduced natural killer cell activity OMIM:608898
Bone Marrow Failure Syndrome 2
Bone marrow hypocellularity, Thrombocytopenia, Anemia, Leukopenia OMIM:615715
Immunodeficiency 14B, Autosomal Recessive
Decreased circulating IgG level, Decreased circulating total IgM, Reduced natural killer cell act... OMIM:619281
Platelet Glycoprotein Iv Deficiency
Thrombocytopenia, Giant platelets OMIM:608404
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1
Increased mean corpuscular volume, Thrombocytopenia, Acute myeloid leukemia OMIM:252270
Thrombocytopenia With Beta-Thalassemia, X-Linked
Reticulocytosis, Reduced platelet alpha granules, Increased mean platelet volume, Thrombocytopeni... OMIM:314050
Refractory Anemia
Normocytic anemia, Erythroid hypoplasia, Normochromic anemia, Macrocytic anemia, Anemia of inadeq... ORPHA:98826
Corneal Dystrophy And Perceptive Deafness
Opacification of the corneal stroma, Corneal dystrophy OMIM:217400
Hemophagocytic Lymphohistiocytosis, Familial, 4
Hepatomegaly, Anemia, Hemophagocytosis, Thrombocytopenia, Splenomegaly, Conjunctivitis, Neutropenia OMIM:603552
Esophagitis, Eosinophilic, 2
Eosinophilia OMIM:613412
Esophagitis, Eosinophilic, 1
Eosinophilia OMIM:610247
Larsen-Like Osseous Dysplasia-Short Stature Syndrome
Corneal opacity, Abnormal cardiac septum morphology ORPHA:2370
Von Willebrand Disease, Platelet-Type
Intermittent thrombocytopenia OMIM:177820
Immunodeficiency 11B With Atopic Dermatitis
Eosinophilia OMIM:617638
Roifman Syndrome
Hepatomegaly, Noncompaction cardiomyopathy, Splenomegaly, Eosinophilia, Ventricular septal defect OMIM:616651
Corneal Dystrophy, Posterior Polymorphous, 1
Abnormal corneal endothelium morphology, Band keratopathy, Iris atrophy, Corneal opacity, Abnorma... OMIM:122000
Autoinflammation With Arthritis And Dyskeratosis
Autoimmune hemolytic anemia, Corneal neovascularization, Hepatomegaly, Punctate keratitis, Spleno... OMIM:617388
Lymphoproliferative Syndrome, X-Linked, 1
Dysgammaglobulinemia, Decreased circulating antibody level, Lymphoma, Decreased circulating IgG l... OMIM:308240
Cinca Syndrome
Anemia, Eosinophilia, Hepatosplenomegaly, Leukocytosis OMIM:607115
Winchester Syndrome
Corneal opacity OMIM:277950
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Anemia, Decreased FOXP3-expressing T cell count, Thrombocytopenia, Coombs-positive hemolytic anem... OMIM:304790
Intellectual Developmental Disorder With Speech Delay, Dysmorphic Facies, And T-Cell Abnormalities
Abnormally low T cell receptor excision circle level, Eosinophilia OMIM:618092
Fanconi Anemia, Complementation Group G
Thrombocytopenia, Anemia, Leukemia, Neutropenia OMIM:614082
Dk Phocomelia Syndrome
Thrombocytopenia OMIM:223340
Polycythemia Vera
Increased red blood cell mass, Leukocytosis, Increased circulating hemoglobin concentration, Thro... OMIM:263300
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Autoimmune hemolytic anemia, Hepatomegaly, Abnormal natural killer cell count, Decreased proporti... ORPHA:331206
Mitochondrial Complex I Deficiency, Nuclear Type 39
Perimembranous ventricular septal defect, Anemia, Hypertrophic cardiomyopathy, Cardiomegaly, Atri... OMIM:620135
Amegakaryocytic Thrombocytopenia, Congenital, 2
Aplastic anemia, Anemia, Pancytopenia, Bone marrow hypocellularity, Thrombocytopenia, Neutropenia OMIM:620481
Bleeding Disorder, Platelet-Type, 22
Impaired ADP-induced platelet aggregation, Impaired collagen-induced platelet aggregation, Thromb... OMIM:618462
Granular Corneal Dystrophy Type Ii
Recurrent corneal erosions, Granular corneal dystrophy, Central opacification of the cornea, Sube... ORPHA:98963
Roch-Leri Mesosomatous Lipomatosis
Thrombocytopenia ORPHA:529
Congenital Hereditary Endothelial Dystrophy Type Ii
Corneal stromal edema, Corneal opacity, Abnormal Descemet membrane morphology, Increased corneal ... ORPHA:293603
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Decreased circulating antibody level, Abnormal natural killer cell physiology OMIM:613101
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss
Neutrophil inclusion bodies, Giant platelets, Impaired epinephrine-induced platelet aggregation, ... OMIM:155100
Niemann-Pick Disease, Type B
Sea-blue histiocytosis, Anemia, Hepatomegaly, Bone-marrow foam cells, Thrombocytopenia, Splenomegaly OMIM:607616
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant
Dilated cardiomyopathy, Corneal opacity, Developmental cataract, Hypertrophic cardiomyopathy OMIM:618815
Eosinophilic Fasciitis
Eosinophilia, Abnormal eosinophil morphology ORPHA:3165
Roifman Syndrome
Eosinophilia, Hepatosplenomegaly, Noncompaction cardiomyopathy ORPHA:353298
Corneal Endothelial Dystrophy
Abnormal Descemet membrane morphology, Increased corneal thickness, Corneal dystrophy, Opacificat... OMIM:217700
Peters Anomaly
Developmental glaucoma, Central opacification of the cornea, Subcapsular cataract, Thinning of De... ORPHA:708
Autosomal Dominant Severe Congenital Neutropenia
Aplastic anemia, Acute myeloid leukemia, Acute lymphoblastic leukemia, Lymphopenia, Eosinophilia,... ORPHA:486
Immunodeficiency 20
Reduced natural killer cell activity OMIM:615707
Anterior Segment Dysgenesis 6
Corneal neovascularization, Developmental glaucoma, Corneal opacity, Abnormal Descemet membrane m... OMIM:617315
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections
Sterile abscess, Pulmonic stenosis, Eosinophilia, Atrial septal defect, Cutaneous abscess OMIM:618282
Systemic Mastocytosis With Associated Hematologic Neoplasm
Normocytic anemia, Hepatomegaly, Acute myeloid leukemia, Normochromic anemia, Chronic lymphatic l... ORPHA:98849
Familial Pterygium Of The Conjunctiva
Opacification of the corneal stroma ORPHA:2989
Giant platelet syndrome with thrombocytopenia
Thrombocytopenia, Giant platelets OMIM:137560
Hereditary Folate Malabsorption
Eosinophilia, Megaloblastic anemia, Thrombocytopenia, Pancytopenia ORPHA:90045
Autoimmune Disease, Multisystem, Infantile-Onset, 1
Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil antibodies, Hepatosplenome... OMIM:615952
Thrombocytopenia, Anemia, And Myelofibrosis
Anisopoikilocytosis, Thrombocytopenia, Anemia, Splenomegaly OMIM:617441
Mucoepithelial Dysplasia, Hereditary
Corneal neovascularization, Keratoconjunctivitis, Cataract, Eosinophilia, Opacification of the co... OMIM:158310
Thrombocytopenia 5
Anemia, Increased mean corpuscular volume, B Acute Lymphoblastic Leukemia, Thrombocytopenia, Neut... OMIM:616216
Stickler Syndrome Type 2
Cataract, Corneal opacity ORPHA:90654
Limbal Stem Cell Deficiency
Opacification of the corneal epithelium, Corneal neovascularization, Cornea verticillata, Corneal... ORPHA:171673
Anterior Segment Dysgenesis 2
Aniridia, Microcornea, Corneal opacity, Congenital aphakia, Anterior segment of eye aplasia, Scle... OMIM:610256
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 1
Eosinophilia OMIM:253600
Omenn Syndrome
Hepatomegaly, Anemia, Abnormal lymphocyte morphology, Leukocytosis, Splenomegaly, Eosinophilia ORPHA:39041
Corneal arcus, Iris transillumination defect, Iridodonesis, Astigmatism, Mosaic corneal dystrophy... OMIM:309300
Immunodeficiency 81
Impaired collagen-induced platelet aggregation, Impaired neutrophil chemotaxis, Reduced natural k... OMIM:619374
Hyper-Ige Syndrome 6, Autosomal Dominant, With Recurrent Infections
Eosinophilia OMIM:620532
Transaldolase Deficiency
Anemia, Thrombocytopenia, Hepatosplenomegaly, Atrial septal defect, Biventricular hypertrophy ORPHA:101028
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Cataract, Posterior embryotoxon, Corneal opacity, Iris coloboma ORPHA:1473
Macrothrombocytopenia, Isolated, 1, Autosomal Dominant
Impaired platelet aggregation, Macrothrombocytopenia OMIM:613112
Immunodeficiency 46
Conjunctivitis, Anemia, Intermittent thrombocytopenia, Neutropenia OMIM:616740
Ataxia-Pancytopenia Syndrome
Anemia, Pancytopenia, Thrombocytopenia, Acute myelomonocytic leukemia, Hypoplastic anemia, Neutro... OMIM:159550
Autoimmune Lymphoproliferative Syndrome, Type Iii
Increased circulating antibody level, Absent isohemagglutinin level, Lymphoproliferative disorder... OMIM:615559
Phosphoglycerate Dehydrogenase Deficiency
Megaloblastic anemia, Thrombocytopenia, Developmental cataract OMIM:601815
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2
Anemia, Thrombocytopenia, Hepatosplenomegaly, Congenital thrombocytopenia, Neutropenia OMIM:616738
Aicardi-Goutieres Syndrome 3
Thrombocytopenia, Hepatosplenomegaly OMIM:610329
Corneal Dystrophy, Fuchs Endothelial, 1
Corneal degeneration, Corneal stromal edema, Corneal dystrophy, Descemet Membrane Folds, Corneal ... OMIM:136800
Pontocerebellar Hypoplasia, Type 15
Thrombocytopenia, Chronic neutropenia, Anemia OMIM:619302
Granular Corneal Dystrophy Type I
Recurrent corneal erosions, Abnormal corneal epithelium morphology, Central opacification of the ... ORPHA:98962
Thrombocytopenia 2
Abnormal platelet shape, Thrombocytopenia, Leukocytosis, Abnormal platelet volume OMIM:188000
Autoinflammation, Immune Dysregulation, And Eosinophilia
Eosinophilia, Hepatosplenomegaly OMIM:618999
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Decreased proportion of CD3-positive T cells, Eosinophilia, Hepatosplenomegaly, Lymphopenia ORPHA:169160
Keratoendotheliitis Fugax Hereditaria
Conjunctival hyperemia, Opacification of the corneal stroma, Keratitis OMIM:148200
Microphthalmia, Isolated 2
Opacification of the corneal stroma OMIM:610093
Hermansky-Pudlak Syndrome 9
Ocular albinism, Thrombocytopenia, Leukopenia, Abnormal platelet aggregation OMIM:614171
Anterior Segment Dysgenesis 5
Microcornea, Hypoplasia of the iris, Rieger anomaly, Posterior embryotoxon, Developmental catarac... OMIM:604229
Cernunnos-Xlf Deficiency
Anemia, B lymphocytopenia, T lymphocytopenia, Thrombocytopenia, Lymphopenia ORPHA:169079
Macular Corneal Dystrophy
Recurrent corneal erosions, Decreased corneal thickness, Punctate opacification of the cornea, Hy... ORPHA:98969
Congenital Toxoplasmosis
Cardiomegaly, Thrombocytopenia, Hepatomegaly, Anemia ORPHA:858
Peeling Skin Syndrome 1
Eosinophilia OMIM:270300
Immunodeficiency 25
Autoimmune hemolytic anemia, Eosinophilia, T lymphocytopenia OMIM:610163
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Macrocytic anemia, Impaired platelet aggregation, Poikilocytosis, Bone marrow hypocellularity, El... OMIM:300835
Transcobalamin Deficiency
Neutropenia, Lymphopenia, Thrombocytopenia, Pancytopenia ORPHA:859
Cardiomyopathy, Familial Hypertrophic, 27
Ventricular septal hypertrophy, Concentric hypertrophic cardiomyopathy, Pterygium, Hypertrophic c... OMIM:618052
Fish-Eye Disease
Hepatomegaly, Corneal opacity, Splenomegaly ORPHA:79292
Bleeding Disorder, Platelet-Type, 20
Thrombocytopenia OMIM:616913
Von Willebrand Disease, Type 2
Thrombocytopenia OMIM:613554
Fuchs Endothelial Corneal Dystrophy
Abnormal Descemet membrane morphology, Abnormal corneal endothelium morphology, Reduced number of... ORPHA:98974
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Hepatomegaly, Anemia, Thrombocytopenia, Splenomegaly, Hypersplenism OMIM:610539
Aicardi-Goutieres Syndrome 6
Hepatomegaly, Thrombocytopenia, Splenomegaly, Hemolytic anemia OMIM:615010
Atypical Hemolytic Uremic Syndrome
Thrombocytopenia, Microangiopathic hemolytic anemia ORPHA:2134
Bleeding Disorder, Platelet-Type, 25
Impaired ADP-induced platelet aggregation, Impaired collagen-induced platelet aggregation, Increa... OMIM:620486
Idiopathic Acute Eosinophilic Pneumonia
Abnormal eosinophil morphology ORPHA:724
Gómez-López-Hernández Syndrome
Corneal opacity ORPHA:1532
Pontocerebellar Hypoplasia, Type 14
Chronic neutropenia, Thrombocytopenia OMIM:619301
Combined Immunodeficiency Due To Zap70 Deficiency
Autoimmune hemolytic anemia, Decreased proportion of CD8-positive T cells, Lymphocytosis, Hepatos... ORPHA:911
Atelis Syndrome 1
Anemia, Thrombocytopenia, Leukopenia, Cataract, Atrial septal defect, Ventricular septal defect OMIM:620184
Ectodermal Dysplasia And Immunodeficiency 1
Dysgammaglobulinemia, Increased circulating IgA level, Abnormal circulating IgG level, Increased ... OMIM:300291
Immunodeficiency 49
Impaired lymphocyte transformation with phytohemagglutinin, T lymphocytopenia, Decreased proporti... OMIM:617237
Thiamine-Responsive Megaloblastic Anemia Syndrome
Situs inversus totalis, Cardiomyopathy, Sideroblastic anemia, Thrombocytopenia, Atrial septal def... OMIM:249270
Corneal Dystrophy, Meesmann, 1
Punctate opacification of the cornea, Corneal dystrophy OMIM:122100
Forsythe-Wakeling Syndrome
Thrombocytopenia OMIM:613606
O'Sullivan-Mcleod Syndrome
Eosinophilia ORPHA:99965
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Hepatomegaly, Aplasia of the thymus, B lymphocytopenia, Splenomegaly, Lymphopenia, Abnormally low... OMIM:602450
Eosinophilic Gastroenteritis
Eosinophilia, Anemia, Leukocytosis ORPHA:2070
Fanconi Anemia, Complementation Group T
Anemia, Acute myeloid leukemia, Pancytopenia, Bone marrow hypocellularity, Thrombocytopenia OMIM:616435
Epithelial Recurrent Erosion Dystrophy
Recurrent corneal erosions, Corneal dystrophy, Subepithelial corneal opacities, Corneal scarring,... ORPHA:293381
Posterior Polymorphous Corneal Dystrophy
Astigmatism, Corneal stromal edema, Corneal opacity, Abnormal Descemet membrane morphology, Incre... ORPHA:98973
Lymphoproliferative Syndrome 1
Autoimmune hemolytic anemia, Hepatomegaly, Anemia, Hemophagocytosis, Pancytopenia, Pericardial ef... OMIM:613011
Noonan Syndrome 12
Ventricular septal defect, Thrombocytopenia, Tetralogy of Fallot, Lymphopenia OMIM:618624
Folate Malabsorption, Hereditary
Folate-responsive megaloblastic anemia, Thrombocytopenia, Leukopenia, Neutropenia OMIM:229050
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Cardiomegaly ORPHA:88643
Eosinophilia, Keratitis, Neutropenia ORPHA:1163
Autosomal Dominant Keratitis
Corneal neovascularization, Aniridia, Limbal stem cell deficiency, Microcornea, Abnormal corneal ... ORPHA:2334
Thrombocytopenia, Anemia ORPHA:673
Hepatomegaly, Anemia, Hypertrophic cardiomyopathy, Thrombocytopenia, Splenomegaly, Abnormal hemog... ORPHA:848
Brittle Cornea Syndrome 2
Keratoglobus, Keratoconus, Decreased corneal thickness, Megalocornea, Sclerocornea, Flat cornea, ... OMIM:614170
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Hepatomegaly, Anemia, Cardiomyopathy, Thrombocytopenia, Splenomegaly, Neutropenia ORPHA:79312
Thiamine-Responsive Megaloblastic Anemia Syndrome
Atrial septal defect, Megaloblastic anemia, Ventricular septal defect, Thrombocytopenia ORPHA:49827
Gaucher Disease, Type Iiic
Hepatomegaly, Pancytopenia, Mitral valve calcification, Mitral stenosis, Splenomegaly, Aortic val... OMIM:231005
Moyamoya Disease With Early-Onset Achalasia
Thrombocytopenia, Abnormal platelet aggregation ORPHA:401945
Bernard-Soulier Syndrome
Macrothrombocytopenia, Thrombocytopenia, Giant platelets, Impaired ristocetin-induced platelet ag... OMIM:231200
Pulmonary Fibrosis-Hepatic Hyperplasia-Bone Marrow Hypoplasia Syndrome
Bone marrow hypocellularity, Thrombocytopenia, Hepatosplenomegaly, Myocardial fibrosis ORPHA:210136
Hemangioma-Thrombocytopenia Syndrome
Thrombocytopenia, Microangiopathic hemolytic anemia OMIM:141000
Sialidosis Type 2
Hepatomegaly, Corneal opacity, Splenomegaly ORPHA:87876
Sengers Syndrome
Cataract, Developmental cataract, Thrombocytopenia, Hypertrophic cardiomyopathy OMIM:212350
Familial Hemophagocytic Lymphohistiocytosis
Abnormal circulating cytokine concentration, Increased circulating interleukin 6 concentration, I... ORPHA:540
Thrombocytopenia, Giant platelets, Abnormal platelet granules, Neutropenia ORPHA:238459
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Autoimmune hemolytic anemia, Reduced red cell adenosine deaminase level, Hepatomegaly, B lymphocy... OMIM:102700
Thrombocytopenia With Congenital Dyserythropoietic Anemia
Anemia of inadequate production, Poikilocytosis, Anisocytosis, Macrothrombocytopenia, Hypochromic... ORPHA:67044
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
B lymphocytopenia, Abscess, Intermittent thrombocytopenia, Splenomegaly, Abnormal CD4:CD8 ratio, ... OMIM:150550
Anterior Segment Dysgenesis 1
Ocular anterior segment dysgenesis, Microcornea, Posterior polar cataract, Opacification of the c... OMIM:107250
Fanconi Anemia, Complementation Group V
Bone marrow hypocellularity, Thrombocytopenia, Anemia, Neutropenia OMIM:617243
Cystic Echinococcosis
Hepatomegaly, Splenic cyst, Peritoneal abscess, Abnormal heart morphology, Eosinophilia, Abscess ORPHA:400
Aicardi-Goutieres Syndrome 4
Hepatomegaly, Pancytopenia, Thrombocytopenia, Hepatosplenomegaly, Splenomegaly OMIM:610333
Vitamin B12-Unresponsive Methylmalonic Acidemia
Hepatomegaly, Anemia, Macrocytic anemia, Cardiomyopathy, Thrombocytopenia, Leukopenia ORPHA:27
Wolfram Syndrome, Mitochondrial Form
Sideroblastic anemia, Megaloblastic anemia, Thrombocytopenia, Neutropenia OMIM:598500
Acute Generalized Exanthematous Pustulosis
Leukocytosis, Neutrophilia, Conjunctivitis, Eosinophilia, Neutropenia ORPHA:293173
Osteopetrosis, Autosomal Recessive 8
Thrombocytopenia, Hepatomegaly, Anemia, Splenomegaly OMIM:615085
Decreased proportion of CD3-positive T cells, Neutropenia in presence of anti-neutropil antibodie... ORPHA:443811
Mulibrey Nanism
Astigmatism, Hepatomegaly, Corneal dystrophy, Pericardial constriction, Myocardial fibrosis, Card... OMIM:253250
Harel-Yoon Syndrome
Developmental cataract, Corneal opacity, Hypertrophic cardiomyopathy OMIM:617183
Mucolipidosis Iv
Opacification of the corneal stroma, Corneal opacity OMIM:252650
Thrombocytopenia With Elevated Serum Iga And Renal Disease
Thrombocytopenia OMIM:314000
Myh9-Related Disease
Neutrophil inclusion bodies, Giant platelets, Increased mean platelet volume, Presenile cataracts... ORPHA:182050
Idiopathic Chronic Eosinophilic Pneumonia
Hypereosinophilia, Leukocytosis ORPHA:2902
Systemic Lupus Erythematosus 17
Thrombocytopenia, Autoimmune thrombocytopenia, Leukopenia, Lymphopenia OMIM:301080
Neuraminidase Deficiency
Hepatomegaly, Vacuolated lymphocytes, Bone-marrow foam cells, Cardiomyopathy, Cataract, Splenomeg... OMIM:256550
Neonatal Lupus Erythematosus
Aplastic anemia, Hepatomegaly, Anemia, Pancytopenia, Abnormal heart morphology, Thrombocytopenia,... ORPHA:398124
Drug Reaction With Eosinophilia And Systemic Symptoms
Lymphocytosis, Eosinophilia, Myocarditis ORPHA:139402
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome
Abnormal T cell morphology, Opacification of the corneal stroma, Cor pulmonale OMIM:215250
Brachyolmia Type 1, Hobaek Type
Opacification of the corneal stroma, Corneal opacity OMIM:271530
Eosinophilic Granulomatosis With Polyangiitis
Myocarditis, Hypertrophic cardiomyopathy, Abnormal pericardium morphology, Eosinophilia, Endocard... ORPHA:183
Idiopathic Aplastic Anemia
Anemia, Pancytopenia, Reticulocytopenia, Bone marrow hypocellularity, Thrombocytopenia, Neutropenia ORPHA:88
Systemic Lupus Erythematosus
Pericarditis, Thrombocytopenia, Leukopenia, Hemolytic anemia OMIM:152700
Sitosterolemia 1
Corneal arcus, Chronic hemolytic anemia, Giant platelets, Anemia, Impaired platelet aggregation, ... OMIM:210250
Amoebic Keratitis
Abnormal anterior chamber morphology, Abnormal corneal epithelium morphology, Corneal ulceration,... ORPHA:67043
Nephrotic Syndrome, Type 7
Thrombocytopenia, Hemolytic anemia OMIM:615008
Gaucher Disease, Type Iii
Hepatomegaly, Thrombocytopenia, Splenomegaly, Pancytopenia OMIM:231000
Bone Marrow Failure Syndrome 4
Bone marrow hypocellularity, Thrombocytopenia, Anemia, Leukopenia OMIM:618116
Hereditary Bullous Dystrophy, Macular Type
Cataract, Abnormal heart morphology, Corneal opacity ORPHA:1867
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Cataract, Corneal opacity, Left ventricular hypertrophy OMIM:613153
Rutherfurd Syndrome
Opacification of the corneal stroma, Corneal dystrophy OMIM:180900
Osteopetrosis, Autosomal Recessive 4
Hepatomegaly, Anemia, Reticulocytosis, Thrombocytopenia, Splenomegaly OMIM:611490
Primary Myelofibrosis
Hepatomegaly, Anemia, Pancytopenia, Extramedullary hematopoiesis, Leukocytosis, Poikilocytosis, H... ORPHA:824
Pseudo-Torch Syndrome 3
Cardiomegaly, Anemia, Leukocytosis, Congenital thrombocytopenia OMIM:618886
Pelger-Huet Anomaly
Giant platelets, Ventricular septal defect, Hyposegmentation of neutrophil nuclei, Thrombocytopen... OMIM:169400
Immunodeficiency 98 With Autoinflammation, X-Linked
Autoimmune hemolytic anemia, Hepatomegaly, Hemophagocytosis, B lymphocytopenia, Bone marrow hypoc... OMIM:301078
Neurooculocardiogenitourinary Syndrome
Peters anomaly, Patent foramen ovale, Cardiomegaly, Atrial septal defect, Ventricular septal defect OMIM:618652
Congenital Disorder Of Glycosylation, Type Iik
Hepatomegaly, Thrombocytopenia OMIM:614727
Hepatomegaly, Thrombocytopenia, Leukopenia, Splenomegaly, Hemolytic anemia ORPHA:108
Cataract, Hepatomegaly, Corneal opacity, Splenomegaly ORPHA:61
Combined Oxidative Phosphorylation Deficiency 8
Cardiomegaly, Hypertrophic cardiomyopathy OMIM:614096
Sea-Blue Histiocytosis
Sea-blue histiocytosis, Thrombocytopenia, Splenomegaly, Hepatomegaly ORPHA:158029
Bleeding Disorder, Platelet-Type, 21
Impaired platelet aggregation, Increased mean platelet volume, Thrombocytopenia, Impaired ADP-ind... OMIM:617443
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Thrombocytopenia, Hepatomegaly, Anemia, Neutropenia ORPHA:289916
Juvenile Sialidosis Type 2
Hepatomegaly, Corneal opacity, Visceromegaly, Abnormal heart morphology, Hepatosplenomegaly, Cata... ORPHA:93399
Immunodeficiency 23
Lymphopenia, Eosinophilia, Abscess, Hemolytic anemia, Neutropenia OMIM:615816
Hepatomegaly, Anemia, Pancytopenia, Abnormal macrophage morphology, Leukopenia, Splenomegaly, Thr... ORPHA:507
Erythrokeratodermia Variabilis
Cataract, Corneal opacity ORPHA:317
Fish-Eye Disease
Opacification of the corneal stroma OMIM:136120
Diffuse Neonatal Hemangiomatosis
Thrombocytopenia, Hepatomegaly, Anemia ORPHA:2123
Combined Oxidative Phosphorylation Deficiency 41
Cardiomegaly, Anemia OMIM:618838
Infantile Sialic Acid Storage Disease
Cardiomegaly, Vacuolated lymphocytes, Hepatomegaly, Splenomegaly OMIM:269920
Corneal Dystrophy, Thiel-Behnke Type
Juvenile epithelial corneal dystrophy, Corneal dystrophy, Corneal scarring OMIM:602082
Deafness-Lymphedema-Leukemia Syndrome
Acute leukemia, Hepatomegaly, Abnormal neutrophil count, Myeloproliferative disorder, Leukocytosi... ORPHA:3226
Congenital Myopathy 8
Cardiomegaly OMIM:618654
Attrv122I Amyloidosis
Anemia, Cardiac amyloidosis, Restrictive cardiomyopathy, Hypertrophic cardiomyopathy, Aortic valv... ORPHA:85451
Autoinflammation With Infantile Enterocolitis
Reduced natural killer cell activity OMIM:616050
Attrv30M Amyloidosis
Cardiomegaly, Cardiomyopathy ORPHA:85447
Cyclic Neutropenia
Perianal abscess, Lymphopenia, Tooth abscess, Thrombocytopenia, Decreased eosinophil count, Cycli... ORPHA:2686
Non-Involuting Congenital Hemangioma
Thrombocytopenia ORPHA:141179
Autoimmune Lymphoproliferative Syndrome
Autoimmune hemolytic anemia, Hepatomegaly, Lymphocytosis, Neutropenia in presence of anti-neutrop... ORPHA:3261
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Cardiomegaly OMIM:300886
Ectodermal Dysplasia-Syndactyly Syndrome 2
Cardiomegaly OMIM:613576
Thrombocytopenia-Absent Radius Syndrome
Atrioventricular canal defect, Anemia, Corneal opacity, Leukocytosis, Thrombocytopenia, Hepatospl... OMIM:274000
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Anemia, Increased mean corpuscular volume, Ventricular septal defect, Sideroblastic anemia, Throm... OMIM:617021
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections
Eosinophilia, Decreased proportion of CD4-positive helper T cells, Reduced natural killer cell co... OMIM:243700
Ghosal Hematodiaphyseal Dysplasia
Bone marrow hypocellularity, Refractory anemia, Thrombocytopenia, Leukopenia OMIM:231095
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Anemia, Acute myeloid leukemia, Hemophagocytosis, Pancytopenia, Acute lymphoblastic leukemia, Hep... ORPHA:158057
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development
Astigmatism, Myopic astigmatism, Microcornea, Corneal opacity, Cataract OMIM:152950
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant
Impaired ADP-induced platelet aggregation, Hemolytic anemia, Increased mean platelet volume, Impa... OMIM:153670
Autoinflammatory Syndrome, Familial, Behcet-Like 1
Thrombocytopenia, Hemolytic anemia, Lymphopenia OMIM:616744
Mitochondrial Complex I Deficiency, Nuclear Type 36
Cardiomegaly, Perimembranous ventricular septal defect OMIM:619170
Netherton Syndrome
Hypereosinophilia OMIM:256500
Idiopathic Hypereosinophilic Syndrome
Anemia, Myocardial eosinophilic infiltration, Myeloproliferative disorder, Leukocytosis, Neutroph... ORPHA:3260
Immunodeficiency 114, Folate-Responsive
Hepatomegaly, Megaloblastic anemia, Thrombocytopenia, Splenomegaly, Lymphopenia OMIM:620603
Syndromic Recessive X-Linked Ichthyosis
Acute leukemia, Corneal opacity ORPHA:281090
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked
Astigmatism, Hepatomegaly, Corneal opacity, Pulmonic stenosis, Thrombocytopenia, Leukopenia, Doub... OMIM:301056
Thyrocerebrorenal Syndrome
Thrombocytopenia ORPHA:3327
Familial Atrial Myxoma
Cardiomegaly, Bacterial endocarditis, Pulmonic valve myxoma, Cardiac myxoma ORPHA:615
Congenitally Uncorrected Transposition Of The Great Arteries
Abnormal ventriculoarterial connection, Hepatomegaly, Ventricular septal defect, Anomalous pulmon... ORPHA:860
Igg4-Related Aortitis
Hypereosinophilia ORPHA:449400
Amed Syndrome, Digenic
Anemia, Acute myeloid leukemia, Bone marrow hypocellularity, Thrombocytopenia, Leukopenia OMIM:619151
Allergic Bronchopulmonary Aspergillosis
Abnormal eosinophil morphology ORPHA:1164
Atopic Keratoconjunctivitis
Corneal neovascularization, Corneal opacity, Corneal scarring, Chemosis, Conjunctival hyperemia, ... ORPHA:163934
Platelet Disorder, Undefined
Impaired platelet aggregation, Thrombocytopenia OMIM:173420
Alveolar Echinococcosis
Liver abscess, Anemia, Abnormal spleen morphology, Abnormal pericardium morphology, Eosinophilia,... ORPHA:284
Pseudo-Torch Syndrome 1
Hepatomegaly, Patent foramen ovale, Thrombocytopenia, Splenomegaly, Cataract, Opacification of th... OMIM:251290
Isovaleric Acidemia
Bone marrow hypocellularity, Thrombocytopenia, Leukopenia, Pancytopenia OMIM:243500
Norrie Disease
Buphthalmos, Corneal opacity, Hypoplasia of the iris, Shallow anterior chamber, Leukocoria, Catar... OMIM:310600
Gray Platelet Syndrome
Impaired thrombin-induced platelet aggregation, Abnormal number of alpha granules, Impaired colla... OMIM:139090
Iga Pemphigus
Eosinophilia, Cutaneous abscess ORPHA:555905
Alpha-Mannosidosis, Adult Form
Cataract, Corneal opacity, Hepatosplenomegaly, Pancytopenia ORPHA:309288
Congenital Disorder Of Glycosylation, Type Iif
Macrothrombocytopenia, Decreased platelet glycoprotein Ib, Thrombocytopenia, Neutropenia OMIM:603585
Thrombotic Thrombocytopenic Purpura
Microangiopathic hemolytic anemia, Thrombocytopenia, Reticulocytosis ORPHA:54057
Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome
Cataract, Corneal opacity, Hypertrophic cardiomyopathy ORPHA:496790
Rapidly Involuting Congenital Hemangioma
Thrombocytopenia ORPHA:141184
Long-Olsen-Distelmaier Syndrome
Microspherophakia, Cataract, Secundum atrial septal defect, Cardiomegaly, Dilated cardiomyopathy,... OMIM:620609
Tangier Disease
Anemia, Corneal opacity, Coronary artery stenosis, Thrombocytopenia, Hepatosplenomegaly, Left ven... ORPHA:31150
Thrombocytopenia, X-Linked, With Or Without Dyserythropoietic Anemia
Poikilocytosis, Anemia of inadequate production, Acanthocytosis, Congenital thrombocytopenia OMIM:300367
Gamma-Heavy Chain Disease
Autoimmune hemolytic anemia, Hepatomegaly, Anemia, Abnormal lymphocyte morphology, Thrombocytopen... ORPHA:100026
Isolated Agammaglobulinemia
Anemia, Abnormal lymphocyte morphology, Thrombocytopenia, Recurrent cutaneous abscess formation, ... ORPHA:229717
Griscelli Syndrome
Hepatomegaly, Bone marrow hypocellularity, Iris hypopigmentation, Thrombocytopenia, Leukopenia, S... ORPHA:381
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency
Hepatomegaly, Pancytopenia, Increased mean corpuscular volume, Megaloblastic anemia, Thrombocytop... OMIM:613839
Ophthalmomandibulomelic Dysplasia
Corneal opacity, Megalocornea ORPHA:2741
Stuve-Wiedemann Syndrome 2
Thrombocytopenia OMIM:619751
Arrhythmogenic Cardiomyopathy With Variable Ectodermal Abnormalities
Patent foramen ovale, Corneal opacity, Right atrial enlargement, Pericardial effusion, Myocardial... OMIM:620519
Congenital Sialidosis Type 2
Hepatomegaly, Corneal opacity, Abnormal heart morphology, Developmental cataract, Hepatosplenomeg... ORPHA:93400
Transaldolase Deficiency
Hepatomegaly, Anemia, Pancytopenia, Patent foramen ovale, Thrombocytopenia, Hepatosplenomegaly, S... OMIM:606003
Imerslund-Gräsbeck Syndrome
Anisopoikilocytosis, Macrocytic anemia, Pancytopenia, Megaloblastic anemia, Abnormal hemoglobin c... ORPHA:35858
Wolfram Syndrome 1
Megaloblastic anemia, Cardiomyopathy, Sideroblastic anemia, Thrombocytopenia, Cataract OMIM:222300
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities
Eosinophilia, Lymphopenia OMIM:617425
Gelatinous Drop-Like Corneal Dystrophy
Conjunctival amyloidosis, Corneal neovascularization, Subepithelial corneal opacities, Central op... ORPHA:98957
Thrombocytopenia, Paris-Trousseau Type
Thrombocytopenia OMIM:188025
Alpha-N-Acetylgalactosaminidase Deficiency
Cardiomegaly, Cataract ORPHA:3137
Lcat Deficiency
Corneal opacity, Hemolytic anemia ORPHA:650
Incontinentia Pigmenti
Cataract, Eosinophilia, Corneal opacity, Keratitis ORPHA:464
Autosomal Dominant Hyper-Ige Syndrome Due To Stat3 Deficiency
Eosinophilia ORPHA:2314
Aggressive Systemic Mastocytosis
Anemia, Increased proportion of CD25+ mast cells, Pancytopenia, Leukocytosis, Hepatosplenomegaly,... ORPHA:98850
Anemia, Leukocytosis, Conjunctival hyperemia, Thrombocytopenia, Conjunctivitis, Cutaneous abscess... ORPHA:3392
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Hepatomegaly, Decreased proportion of CD8-positive T cells, T lymphocytopenia, Decreased proporti... ORPHA:508533
Specific Granule Deficiency 2
Thrombocytopenia, Absent neutrophil specific granules, Anemia, Neutropenia OMIM:617475
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Cardiomegaly, Dilated cardiomyopathy, Hepatomegaly OMIM:600649
Hermansky-Pudlak Syndrome 5
Absent platelet dense granules, Iris transillumination defect, Impaired ADP-induced platelet aggr... OMIM:614074
Propionic Acidemia
Hepatomegaly, Anemia, Pancytopenia, Cardiomyopathy, Thrombocytopenia, Neutropenia OMIM:606054
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Microcornea, Corneal opacity, Persistent pupillary membrane, Shallow anterior chamber, Leukocoria... OMIM:221900
Congenital Enterovirus Infection
Myocarditis, Anemia, Abnormal macrophage morphology, Cardiomyopathy, Leukocytosis, Pericardial ef... ORPHA:292
Sickle Cell Disease
Hepatomegaly, Splenic infarction, Leukocytosis, Target cells, Splenomegaly, Cardiomegaly, Increas... OMIM:603903
Congenital Primary Aphakia
Developmental glaucoma, Aniridia, Aplasia/Hypoplasia affecting the anterior segment of the eye, C... ORPHA:83461
Bartsocas-Papas Syndrome 2
Popliteal pterygium, Axillary pterygium, Antecubital pterygium, Corneal opacity OMIM:619339
Scheie Syndrome
Hepatomegaly, Corneal opacity, Splenomegaly ORPHA:93474
Cardiomegaly, Hepatomegaly, Corneal opacity ORPHA:349
Uruguay Faciocardiomusculoskeletal Syndrome
Left atrial enlargement, Ventricular hypertrophy, Cardiomyopathy, Hypertrophic cardiomyopathy, Le... OMIM:300280
Gm1-Gangliosidosis, Type Iii
Opacification of the corneal stroma, Hepatomegaly, Splenomegaly OMIM:230650
Portal Hypertension, Noncirrhotic, 2
Hepatomegaly, Thrombocytopenia, Splenomegaly OMIM:619463
Gaucher Disease, Type I
Hepatomegaly, Anemia, Pancytopenia, Aortic valve stenosis, Thrombocytopenia, Splenomegaly, Hypers... OMIM:230800
Drug-Induced Lupus Erythematosus
Pericardial effusion, Pericarditis, Thrombocytopenia, Anemia ORPHA:231111
Congenital Tricuspid Valve Dysplasia
Tricuspid valve prolapse, Hepatomegaly, Abnormal tricuspid valve annulus morphology, Patent foram... ORPHA:555874
Thyrocerebroretinal Syndrome
Thrombocytopenia OMIM:274240
Fixed Subaortic Stenosis
Atrioventricular canal defect, Cardiomegaly, Bacterial endocarditis, Pulmonic stenosis, Abnormal ... ORPHA:3092
Scheie Syndrome
Aortic valve stenosis, Mitral stenosis, Corneal opacity OMIM:607016
Wilson Disease
Hepatomegaly, Anemia, Kayser-Fleischer ring, Thrombocytopenia, Splenomegaly ORPHA:905
Bleeding Disorder, Platelet-Type, 17
Impaired epinephrine-induced platelet aggregation, Absence of alpha granules, Impaired collagen-i... OMIM:187900
Sialidosis Type 1
Cataract, Corneal opacity, Splenomegaly ORPHA:812
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome
Anemia, B lymphocytopenia, Noncompaction cardiomyopathy, Reticulocytopenia, Bone marrow hypocellu... ORPHA:508542
Wiskott-Aldrich Syndrome
Autoimmune hemolytic anemia, Impaired lymphocyte transformation with phytohemagglutinin, Decrease... OMIM:301000
Fetal Gaucher Disease
Hepatomegaly, Pancytopenia, Thrombocytopenia, Abnormality of the spleen, Splenomegaly ORPHA:85212
Quebec Platelet Disorder
Thrombocytopenia, Impaired epinephrine-induced platelet aggregation OMIM:601709
Immunodeficiency 91 And Hyperinflammation
Hepatomegaly, Hemophagocytosis, Neutrophilia, Thrombocytopenia, Hepatosplenomegaly, Monocytosis OMIM:619644
Amyloidosis Of Gingiva And Conjunctiva With Impaired Intellectual Development
Opacification of the corneal stroma OMIM:204850
Incontinentia Pigmenti
Cataract, Eosinophilia, Keratitis, Leukocytosis OMIM:308300
Multicentric Carpotarsal Osteolysis Syndrome
Corneal opacity OMIM:166300
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Atrial septal defect, Thrombocytopenia, Normochromic anemia, Neutropenia OMIM:614857
Aregenerative Anemia
Erythroid hypoplasia, Pancytopenia, Abnormal proportion of CD8-positive T cells, Reticulocytopeni... ORPHA:101096
Conjunctival telangiectasia, Opacification of the corneal stroma, Visceromegaly, Hepatosplenomegaly OMIM:256540
Late-Onset Isolated Acth Deficiency
Eosinophilia, Normocytic anemia, Macrocytic anemia ORPHA:199299
Hypereosinophilia ORPHA:74
Chediak-Higashi Syndrome
Hepatomegaly, Anemia, Hemophagocytosis, Ocular albinism, Iris hypopigmentation, Leukopenia, Splen... OMIM:214500
Von Willebrand Disease
Abnormal platelet function, Abnormal mitral valve morphology, Thrombocytopenia, Abnormality of th... ORPHA:903
Mitochondrial Complex Iv Deficiency, Nuclear Type 20
Cardiomegaly, Hepatomegaly OMIM:619064
Short Syndrome
Abnormal anterior chamber morphology, Corneal opacity, Megalocornea, Hypoplasia of the iris, Post... ORPHA:3163
Felty Syndrome
Hepatomegaly, Anemia, Abnormal lymphocyte morphology, Pericarditis, Bone marrow hypocellularity, ... ORPHA:47612
Mucopolysaccharidosis, Type Iiib
Cardiomegaly, Hepatomegaly, Splenomegaly, Asymmetric septal hypertrophy OMIM:252920
Microphthalmia, Syndromic 16
Sclerocornea OMIM:611038
Letterer-Siwe Disease
Thrombocytopenia, Anemia, Hepatosplenomegaly, Neutropenia OMIM:246400
Moyamoya Disease 6 With Or Without Achalasia
Thrombocytopenia OMIM:615750
Ciliary Dyskinesia, Primary, 53
Situs inversus totalis, Perimembranous ventricular septal defect, Patent foramen ovale, Common at... OMIM:620642
Sjogren-Larsson Syndrome
Opacification of the corneal epithelium, Astigmatism OMIM:270200
Agammaglobulinemia 9, Autosomal Recessive
Thrombocytopenia, Absent circulating B cells OMIM:619693
Immunodeficiency, Common Variable, 12, With Autoimmunity
Autoimmune hemolytic anemia, Thrombocytopenia OMIM:616576
Cardiomyopathy, Familial Hypertrophic, 4
Ventricular septal hypertrophy, Muscular ventricular septal defect, Hepatomegaly, Ventricular hyp... OMIM:115197
Refsum Disease, Classic
Cardiomegaly, Cardiomyopathy, Cataract OMIM:266500
Mietens Syndrome
Cataract, Microcornea, Sclerocornea, Corneal opacity ORPHA:2557
Dyskeratosis Congenita, Autosomal Dominant 2
Aplastic anemia, Pancytopenia, Bone marrow hypocellularity, Thrombocytopenia, Leukopenia, Dilated... OMIM:613989
Schimke Immuno-Osseous Dysplasia
Anemia, Abnormal proportion of naive CD4 T cells, Corneal opacity, Decreased proportion of naive ... ORPHA:1830
Combined Oxidative Phosphorylation Deficiency 10
Cardiomegaly, Pericardial effusion, Hypertrophic cardiomyopathy OMIM:614702
Carnitine Deficiency, Systemic Primary
Hepatomegaly, Cardiomyopathy, Hypertrophic cardiomyopathy, Cardiomegaly, Endocardial fibroelastosis OMIM:212140
Braddock-Carey Syndrome 1
Aortic valve prolapse, Ventricular septal defect, Thrombocytopenia OMIM:619980
Distal Deletion 6P
Abnormal anterior chamber morphology, Corneal opacity, Hypoplasia of the iris, Posterior embryoto... ORPHA:96125
Multiple Sulfatase Deficiency
Cataract, Hepatomegaly, Corneal opacity, Splenomegaly ORPHA:585
Platelet Disorder, Familial, With Associated Myeloid Malignancy
Acute myeloid leukemia, Abnormal dense granule content, Impaired platelet aggregation, Abnormal p... OMIM:601399
Mandibulofacial Dysostosis With Macroblepharon And Macrostomia
Keratitis, Corneal opacity, Conjunctivitis OMIM:602562
Thrombocytopenia 3
Decreased mean platelet volume, Thrombocytopenia OMIM:273900
Mitochondrial Complex Iv Deficiency, Nuclear Type 7
Cardiomegaly, Ventricular hypertrophy, Hypertrophic cardiomyopathy OMIM:619051
Tangier Disease
Opacification of the corneal stroma, Hepatomegaly, Splenomegaly, Left ventricular hypertrophy OMIM:205400
Osteoporosis-Pseudoglioma Syndrome
Corneal opacity ORPHA:2788
Spondylometaphyseal Dysplasia With Corneal Dystrophy
Corneal opacity OMIM:618961
Aicardi-Goutieres Syndrome 5
Thrombocytopenia OMIM:612952
Tufted Angioma
Thrombocytopenia, Anemia ORPHA:1063
Ichthyosis, X-Linked
Opacification of the corneal stroma OMIM:308100
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Hepatomegaly, Cardiomyopathy, Thrombocytopenia, Leukopenia, Neutropenia OMIM:251000
Zellweger Syndrome
Hepatomegaly, Corneal opacity, Posterior embryotoxon, Brushfield spots, Cataract, Ventricular sep... ORPHA:912
Lowry-Maclean Syndrome
Corneal opacity, Atrioventricular canal defect, Developmental glaucoma, Megalocornea ORPHA:2409
Combined Oxidative Phosphorylation Deficiency 33
Hepatomegaly, Astigmatism, Cardiomyopathy, Left ventricular hypertrophy, Cardiomegaly OMIM:617713
Congenital Disorder Of Glycosylation, Type Ih
Perimembranous ventricular septal defect, Thrombocytopenia, Hepatomegaly, Anemia OMIM:608104
Combined Immunodeficiency Due To Crac Channel Dysfunction
Hepatomegaly, Hypoplasia of the iris, Thrombocytopenia, Splenomegaly, Hemolytic anemia ORPHA:169090
Mitochondrial Complex I Deficiency, Nuclear Type 20
Dilated cardiomyopathy, Thrombocytopenia, Hypertrophic cardiomyopathy OMIM:611126
Mitochondrial Complex Iii Deficiency, Nuclear Type 10
Normochromic anemia, Hypertrophic cardiomyopathy, Pericardial effusion, Thrombocytopenia, Ventric... OMIM:618775
Proteasome-Associated Autoinflammatory Syndrome 2
Decreased proportion of memory B cells, Thrombocytopenia, Increased CD4:CD8 ratio, B lymphocytopenia OMIM:618048
Xp22.3 Microdeletion Syndrome
Opacification of the corneal stroma ORPHA:1643
Refractory Anemia With Excess Blasts
Acute myeloid leukemia, Anemia of inadequate production, Leukocytosis, Abnormal mean corpuscular ... ORPHA:86839
Macrophage Activation Syndrome
Hepatomegaly, Anemia, Hemophagocytosis, Abnormal natural killer cell count, Thrombocytopenia, Spl... ORPHA:158061
Methylmalonic Aciduria And Homocystinuria, Cblf Type
Hepatomegaly, Anemia, Dextrocardia, Pancytopenia, Megaloblastic anemia, Thrombocytopenia, Atrial ... OMIM:277380
Idiopathic Pulmonary Hemosiderosis
Cardiomegaly, Hepatomegaly, Hepatosplenomegaly, Iron deficiency anemia ORPHA:99931
Methylmalonic Aciduria, Cblb Type
Hepatomegaly, Anemia, Pancytopenia, Thrombocytopenia, Dilated cardiomyopathy, Neutropenia OMIM:251110
Dyskeratosis Congenita, Autosomal Recessive 2
Bone marrow hypocellularity, Thrombocytopenia, Pancytopenia OMIM:613987
Alport Syndrome 1, X-Linked
Corneal erosion, Developmental cataract, Thrombocytopenia, Lenticonus, Anterior lenticonus OMIM:301050
Fanconi Anemia, Complementation Group E
Anemia, Pancytopenia, Reticulocytopenia, Abnormal heart morphology, Thrombocytopenia, Leukemia, N... OMIM:600901
Zika Virus Disease
Iris coloboma, Lens subluxation, Thrombocytopenia, Conjunctivitis ORPHA:448237
Mevalonic Aciduria
Fluctuating splenomegaly, Anemia, Leukocytosis, Normocytic hypoplastic anemia, Hepatosplenomegaly... OMIM:610377
Coronary Arterial Fistula
Atrial septal defect, Cardiomegaly, Bacterial endocarditis, Patent foramen ovale, Aortic valve st... ORPHA:2041
Recessive X-Linked Ichthyosis
Opacification of the corneal stroma ORPHA:461
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Perianal abscess, Hepatomegaly, Anemia, Erythroid hypoplasia, Hypoplasia of the thymus, Pulmonic ... OMIM:612541
Immunodeficiency 89 And Autoimmunity
Hypochromic microcytic anemia, Decreased eosinophil count OMIM:619632
Microphthalmia/Coloboma 9
Ocular anterior segment dysgenesis, Sclerocornea, Microcornea, Iris coloboma OMIM:615145
Aniridia-Renal Agenesis-Psychomotor Retardation Syndrome
Developmental glaucoma, Corneal opacity, Aniridia ORPHA:1064
Acute Radiation Syndrome
Cataract, Thrombocytopenia, Granulocytopenia, Lymphopenia ORPHA:454831
Aorta Coarctation
Perimembranous ventricular septal defect, Cardiomegaly, Abnormal left ventricular outflow tract m... ORPHA:1457
Braddock-Carey Syndrome 2
Thrombocytopenia OMIM:619981
Osteopetrosis, Autosomal Recessive 2
Anemia, Pancytopenia, Thrombocytopenia, Hepatosplenomegaly, Extramedullary hematopoiesis OMIM:259710
Fetal Cytomegalovirus Syndrome
Thrombocytopenia, Hepatomegaly, Anemia, Splenomegaly ORPHA:294
Diamond-Blackfan Anemia
Developmental glaucoma, Elevated red cell adenosine deaminase activity, Acute myeloid leukemia, N... ORPHA:124
Hermansky-Pudlak Syndrome 2
Absent platelet dense granules, Hepatomegaly, Ocular albinism, Impaired ADP-induced platelet aggr... OMIM:608233
Noonan Syndrome 4
Hypertrophic cardiomyopathy, Pulmonic stenosis, Thrombocytopenia, Atrial septal defect, Ventricul... OMIM:610733
Farber Disease
Anemia, Corneal opacity, Thrombocytopenia, Hepatosplenomegaly, Opacification of the corneal strom... ORPHA:333
Tropical Endomyocardial Fibrosis
Left atrial enlargement, Endocardial fibrosis, Right ventricular cardiomyopathy, Hepatomegaly, Re... ORPHA:75565
Congenital Disorder Of Glycosylation, Type Iil
Hepatomegaly, Pancytopenia, Thrombocytopenia, Splenomegaly, Atrial septal defect, Ventricular sep... OMIM:614576
Immunodeficiency, Common Variable, 8, With Autoimmunity
Autoimmune hemolytic anemia, Pancytopenia, Decreased proportion of class-switched memory B cells,... OMIM:614700
Ectodermal Dysplasia-Blindness Syndrome
Corneal dystrophy, Microcornea, Sclerocornea, Cataract, Keratoconjunctivitis sicca ORPHA:1806
Hemochromatosis, Type 1
Cardiomegaly, Hepatomegaly, Cardiomyopathy, Splenomegaly OMIM:235200
Gm1 Gangliosidosis
Cardiomyopathy, Corneal opacity, Abnormal heart morphology, Hepatosplenomegaly, Splenomegaly, Ven... ORPHA:354
Tafro Syndrome
Hepatomegaly, Anemia, Leukocytosis, Thrombocytopenia, Splenomegaly, Hepatosplenomegaly ORPHA:457077
Brachyolmia Type 1, Toledo Type
Opacification of the corneal stroma OMIM:271630
Axenfeld-Rieger Syndrome, Type 2
Opacification of the corneal stroma, Microcornea, Abnormal heart morphology, Anterior chamber syn... OMIM:601499
Schimke Immunoosseous Dysplasia
Abnormal T cell morphology, Astigmatism, Anemia, Pancytopenia, Thrombocytopenia, Lymphopenia, Opa... OMIM:242900
Hurler Syndrome
Hepatomegaly, Cardiomyopathy, Corneal opacity, Hepatosplenomegaly, Splenomegaly, Opacification of... OMIM:607014
Persistent Hyperplastic Primary Vitreous
Microcornea, Corneal opacity, Persistent pupillary membrane, Shallow anterior chamber, Developmen... ORPHA:91495
Hurler-Scheie Syndrome
Hepatomegaly, Corneal opacity, Splenomegaly OMIM:607015
Relapsing Fever
Anemia, Leukocytosis, Neutrophilia, Thrombocytopenia, Leukopenia ORPHA:91547
Rhabdoid Tumor
Thrombocytopenia, Anemia ORPHA:69077
Thrombocytopenia, Hepatosplenomegaly ORPHA:263501
Fanconi Anemia, Complementation Group A
Anemia, Pancytopenia, Reticulocytopenia, Abnormal heart morphology, Thrombocytopenia, Leukemia, N... OMIM:227650
Retinitis Pigmentosa And Erythrocytic Microcytosis
Anemia, Hypochromia, Poikilocytosis, Elliptocytosis, Anisocytosis, Leukopenia, Thrombocytopenia, ... OMIM:616959
X-Linked Agammaglobulinemia
Anemia, Thrombocytopenia, Conjunctivitis, Recurrent cutaneous abscess formation, Neutropenia ORPHA:47
Thrombocytopenia ORPHA:370924
Timothy Syndrome
Cardiomegaly, Patent foramen ovale, Ventricular septal defect, Tetralogy of Fallot OMIM:601005
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures
Cardiomyopathy, Thrombocytopenia OMIM:617710
Cantu Syndrome
Cardiomegaly, Bicuspid aortic valve, Pericardial effusion, Congenital hypertrophy of left ventricle OMIM:239850
Mucopolysaccharidosis-Plus Syndrome
Enlarged kidney, Hepatomegaly, Anemia, Hypertrophic cardiomyopathy, Bone marrow hypocellularity, ... OMIM:617303
Chromosome 6Pter-P24 Deletion Syndrome
Ocular anterior segment dysgenesis, Peters anomaly, Patent foramen ovale, Axenfeld anomaly, Poste... OMIM:612582
Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency
Bone marrow hypocellularity, Thrombocytopenia, Anemia, Neutropenia OMIM:614520
Thrombocytopenia 11 With Multiple Congenital Anomalies And Dysmorphic Facies
Astigmatism, Anemia, Pancytopenia, Ventricular hypertrophy, Cataract, Pulmonic stenosis, Thromboc... OMIM:620654
Isolated Right Ventricular Hypoplasia
Muscular ventricular septal defect, Patent foramen ovale, Right atrial enlargement, Cardiomegaly,... ORPHA:439
Prolidase Deficiency