Gene Summary

Name:
oncostatin M
Synonyms:
OncoM

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
increased bone mineral content Osmtm1b(KOMP)Wtsi HOM Early adult 4.20×10-05
increased mean corpuscular volume Osmtm1b(KOMP)Wtsi HOM Early adult 4.42×10-18
decreased erythrocyte cell number Osmtm1b(KOMP)Wtsi HOM Early adult 2.85×10-13
thrombocytopenia Osmtm1b(KOMP)Wtsi HOM Early adult 1.69×10-13
decreased hemoglobin content Osmtm1b(KOMP)Wtsi HOM Early adult 4.80×10-07
decreased circulating glucose level Osmtm1b(KOMP)Wtsi HOM Early adult 5.16×10-05
decreased hematocrit Osmtm1b(KOMP)Wtsi HOM Early adult 1.34×10-06
increased mean corpuscular hemoglobin Osmtm1b(KOMP)Wtsi HOM Early adult 1.34×10-26
decreased circulating free fatty acids level Osmtm1b(KOMP)Wtsi HOM   Early adult 3.47×10-05
increased heart weight Osmtm1b(KOMP)Wtsi HOM Early adult 5.84×10-06

Download data as:  TSV  XLS

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Viewing: all phenotypes

lacZ Expression

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

Anatomy Images Zygosity Mutant Expr
Kidney  Section images heterozygote 100% (2 of 2)
Ovary  Section images heterozygote 50% (1 of 2)
Oviduct  Section images heterozygote Not available
Submandibular gland  Section images heterozygote 50% (1 of 2)
Testis  Section images heterozygote 50% (1 of 2)
Uterus  Section images heterozygote 50% (1 of 2)
Adrenal gland N/A heterozygote 0.0% (0 of 2)
Aorta N/A heterozygote 0.0% (0 of 2)
Bone marrow N/A heterozygote 0.0% (0 of 1)
Brain N/A heterozygote 0.0% (0 of 2)
Brainstem N/A heterozygote 0.0% (0 of 2)
Brown adipose tissue N/A heterozygote 0.0% (0 of 2)
Cartilage tissue N/A heterozygote 0.0% (0 of 2)
Cerebellum N/A heterozygote 0.0% (0 of 2)
Cerebral cortex N/A heterozygote 0.0% (0 of 2)
Epididymis N/A heterozygote 0.0% (0 of 2)
Esophagus N/A heterozygote 0.0% (0 of 2)
Eye N/A heterozygote 0.0% (0 of 2)
Heart N/A heterozygote 0.0% (0 of 2)
Hippocampus N/A heterozygote 0.0% (0 of 2)
Hypothalamus N/A heterozygote 0.0% (0 of 2)
Large intestine N/A heterozygote 0.0% (0 of 2)
Liver N/A heterozygote 0.0% (0 of 2)
Lower urinary tract N/A heterozygote Not available
Lung N/A heterozygote 0.0% (0 of 2)
Lymph node N/A heterozygote 0.0% (0 of 2)
Mammary gland N/A heterozygote 0.0% (0 of 2)
Midbrain N/A heterozygote 0.0% (0 of 2)
Olfactory lobe N/A heterozygote 0.0% (0 of 2)
Pancreas N/A heterozygote 0.0% (0 of 2)
Peripheral nervous system N/A heterozygote 0.0% (0 of 2)
Peyer's patch N/A heterozygote Not available
Pituitary gland N/A heterozygote Not available
Prostate gland N/A heterozygote Not available
Skeletal muscle N/A heterozygote 0.0% (0 of 2)
Skin N/A heterozygote 0.0% (0 of 2)
Small intestine N/A heterozygote 0.0% (0 of 2)
Spinal cord N/A heterozygote 0.0% (0 of 2)
Spleen N/A heterozygote 0.0% (0 of 2)
Stomach N/A heterozygote 0.0% (0 of 2)
Striatum N/A heterozygote Not available
Thalamus N/A heterozygote 0.0% (0 of 2)
Thymus N/A heterozygote 0.0% (0 of 2)
Thyroid gland N/A heterozygote 0.0% (0 of 2)
Trachea N/A heterozygote 0.0% (0 of 2)
Urinary bladder N/A heterozygote 0.0% (0 of 2)
Vascular system N/A heterozygote 0.0% (0 of 2)
Vesicular gland N/A heterozygote Not available
White adipose tissue N/A heterozygote 0.0% (0 of 2)

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

Anatomy Images Zygosity Mutant Expr
Brain N/A heterozygote 0.0% (0 of 2)
Brain N/A homozygote 0.0% (0 of 1)
Dorsal root ganglion N/A heterozygote 0.0% (0 of 2)
Dorsal root ganglion N/A homozygote 0.0% (0 of 1)
Ear N/A heterozygote 0.0% (0 of 2)
Ear N/A homozygote 0.0% (0 of 1)
Embryo N/A heterozygote 0.0% (0 of 2)
Embryo N/A homozygote 0.0% (0 of 1)
Eye N/A heterozygote 0.0% (0 of 2)
Eye N/A homozygote 0.0% (0 of 1)
Footplate N/A heterozygote 0.0% (0 of 2)
Footplate N/A homozygote 0.0% (0 of 1)
Forebrain N/A heterozygote 0.0% (0 of 2)
Forebrain N/A homozygote 0.0% (0 of 1)
Forelimb N/A heterozygote 0.0% (0 of 2)
Forelimb N/A homozygote 0.0% (0 of 1)
Fronto-nasal process N/A heterozygote 0.0% (0 of 2)
Fronto-nasal process N/A homozygote 0.0% (0 of 1)
Handplate N/A heterozygote 0.0% (0 of 2)
Handplate N/A homozygote 0.0% (0 of 1)
Head N/A heterozygote 0.0% (0 of 2)
Head N/A homozygote 0.0% (0 of 1)
Heart N/A heterozygote 0.0% (0 of 2)
Heart N/A homozygote 0.0% (0 of 1)
Hindbrain N/A heterozygote 0.0% (0 of 2)
Hindbrain N/A homozygote 0.0% (0 of 1)
Hindlimb N/A heterozygote 0.0% (0 of 2)
Hindlimb N/A homozygote 0.0% (0 of 1)
Liver N/A heterozygote 0.0% (0 of 2)
Liver N/A homozygote 0.0% (0 of 1)
Lung N/A heterozygote 0.0% (0 of 2)
Lung N/A homozygote 0.0% (0 of 1)
Mandibular process N/A heterozygote 0.0% (0 of 2)
Mandibular process N/A homozygote 0.0% (0 of 1)
Maxillary process N/A heterozygote 0.0% (0 of 2)
Maxillary process N/A homozygote 0.0% (0 of 1)
Midbrain N/A heterozygote 0.0% (0 of 2)
Midbrain N/A homozygote 0.0% (0 of 1)
Nose N/A heterozygote 0.0% (0 of 2)
Nose N/A homozygote 0.0% (0 of 1)
Oral cavity N/A heterozygote 0.0% (0 of 2)
Oral cavity N/A homozygote 0.0% (0 of 1)
Skin N/A heterozygote 0.0% (0 of 2)
Skin N/A homozygote 0.0% (0 of 1)
Spinal cord N/A heterozygote 0.0% (0 of 2)
Spinal cord N/A homozygote 0.0% (0 of 1)
Tail somite N/A heterozygote 0.0% (0 of 2)
Tail somite N/A homozygote 0.0% (0 of 1)
Tail N/A heterozygote 0.0% (0 of 2)
Tail N/A homozygote 0.0% (0 of 1)

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

Anatomy Background staining in controls (WT)
adrenal gland 0.68% (4 of 585)
aorta 0.17% (1 of 585)
bone marrow 0.0%
brain 0.68% (4 of 585)
brainstem 0.34% (2 of 585)
brown adipose tissue 0.0%
cartilage tissue 0.17% (1 of 585)
cerebellum 0.51% (3 of 585)
cerebral cortex 0.34% (2 of 585)
epididymis 13.43% (18 of 134)
esophagus 1.71% (7 of 409)
eye 0.0%
heart 0.34% (2 of 585)
hippocampus 0.51% (3 of 585)
hypothalamus 0.34% (2 of 585)
kidney 3.59% (21 of 585)
large intestine 1.71% (10 of 585)
liver 0.0%
lower urinary tract 0.17% (1 of 585)
lung 0.34% (2 of 585)
lymph node 0.17% (1 of 585)
mammary gland 0.0%
midbrain 0.0%
olfactory lobe 0.34% (2 of 585)
ovary 0.17% (1 of 585)
oviduct 0.0%
pancreas 0.85% (5 of 585)
peripheral nervous system 0.34% (2 of 585)
peyers patch 0.0%
pituitary gland 0.17% (1 of 585)
prostate gland 2.05% (12 of 585)
skeletal muscle 0.0%
skin 0.17% (1 of 585)
small intestine 1.54% (9 of 585)
spinal cord 0.51% (3 of 585)
spleen 0.51% (3 of 585)
stomach 2.22% (13 of 585)
striatum 0.51% (3 of 585)
submandibular gland 1.52% (2 of 132)
testis 1.03% (6 of 585)
thalamus 0.0%
thymus 0.17% (1 of 585)
thyroid gland 2.91% (17 of 585)
trachea 0.51% (3 of 585)
urinary bladder 0.0%
uterus 0.0%
vascular system 0.0%
vesicular gland 0.0%
white adipose tissue 0.0%

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

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

Anatomy Background staining in controls(WT)
brain 1.18% (6 of 508)
dorsal root ganglion 1.67% (1 of 60)
ear 0.2% (1 of 508)
embryo 0.2% (1 of 509)
eye 0.2% (1 of 508)
footplate 0.2% (1 of 508)
forebrain 0.2% (1 of 508)
forelimb 0.2% (1 of 508)
fronto-nasal process 1.64% (1 of 61)
handplate 0.2% (1 of 508)
head 0.98% (5 of 508)
heart 0.2% (1 of 508)
hindbrain 1.18% (6 of 508)
hindlimb 0.2% (1 of 508)
liver 0.2% (1 of 503)
lung 0.2% (1 of 503)
mandibular process 0.2% (1 of 508)
maxillary process 0.2% (1 of 508)
midbrain 0.2% (1 of 508)
nose 1.28% (1 of 78)
oral cavity 0.2% (1 of 503)
skin 0.2% (1 of 508)
spinal cord 1.39% (1 of 72)
tail 0.2% (1 of 508)
tail somite group 0.2% (1 of 508)

Associated Images

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

Adult LacZ

LacZ Images Section

7 Images

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

X-ray

XRay Images Forepaw

10 Images

Eye Morphology

Images Ophthalmoscopy

4 Images

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

X-ray

XRay Images Skull Lateral Orientation

10 Images

Sleep Wake

Wake state (bmp file)

15 Images

Combined SHIRPA and Dysmorphology

Images

2 Images

Auditory Brain Stem Response

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

8 Images

Human diseases caused by Osm 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 Osm by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Hemoglobin D Disease
Reduced beta/alpha synthesis ratio, Decreased mean corpuscular hemoglobin concentration, Sickled ... ORPHA:90039
Anemia, Sideroblastic, Pyridoxine-Responsive, Autosomal Recessive
Sideroblastic anemia, Hepatosplenomegaly, Pyridoxine-responsive sideroblastic anemia, Decreased m... OMIM:206000
Anemia, Sideroblastic, 2, Pyridoxine-Refractory
Decreased mean corpuscular volume, Anemia, Hypochromia OMIM:205950
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1
Acute myeloid leukemia, Increased mean corpuscular volume, Thrombocytopenia OMIM:252270
Anemia, Hypochromic Microcytic, With Iron Overload 1
Decreased mean corpuscular volume, Anemia, Hypochromia OMIM:206100
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Abnormal bone structure, Splenomegaly, Hepatomegaly, Anemia, Persistence of hemoglobin F ORPHA:46532
Congenital Amegakaryocytic Thrombocytopenia
Decreased skull ossification, Anemia, Abnormal hemoglobin, Thrombocytopenia, Abnormal cardiac sep... ORPHA:3319
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Abnormal platelet function, Splenomegaly, Anemia, Abnormal hemoglobin, Thrombocytopenia ORPHA:231393
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Pancytopenia, Acute myeloid leukemia, Neutropenia, Anemia, Increased mean corpuscular volume, Thr... OMIM:619041
Hemoglobin E-Beta-Thalassemia Syndrome
Abnormal hemoglobin, Anemia ORPHA:231249
Hemoglobin-Delta locus
Anemia, Imbalanced hemoglobin synthesis OMIM:142000
Diamond-Blackfan Anemia 3
Elevated red cell adenosine deaminase level, Increased mean corpuscular volume, Macrocytic anemia... OMIM:610629
Dehydrated Hereditary Stomatocytosis 2
Increased mean corpuscular hemoglobin concentration, Splenomegaly, Acanthocytosis, Hepatomegaly, ... OMIM:616689
Hemoglobin H Disease
Splenomegaly, Hepatomegaly, HbH hemoglobin, Hemolytic anemia, Reduced alpha/beta synthesis ratio OMIM:613978
Thrombocytopenic Purpura, Autoimmune
Thrombocytopenia OMIM:188030
Thrombocytopenia 4
Thrombocytopenia OMIM:612004
Thalassemia, Beta+, Silent Allele
Reduced beta/alpha synthesis ratio OMIM:187550
Intrinsic Factor Deficiency
Megaloblastic erythroid hyperplasia, Megaloblastic anemia, Increased mean corpuscular volume OMIM:261000
Fetal Hemoglobin Quantitative Trait Locus 1
Persistence of hemoglobin F OMIM:141749
Beta-Thalassemia, Dominant Inclusion Body Type
Microcytic anemia, Erythrocyte inclusion bodies, Decreased mean corpuscular hemoglobin concentrat... OMIM:603902
Sickle Cell Anemia
Microcytic anemia, Hypochromic anemia, Reticulocytosis, Leukocytosis, Thrombocytosis, Osteoporosi... ORPHA:232
Thrombocytopenia 2
Leukocytosis, Thrombocytopenia OMIM:188000
Hemoglobin E Disease
Splenomegaly, Increased red blood cell count, Abnormal hemoglobin, Anemia of inadequate productio... ORPHA:2133
Bone Marrow Failure Syndrome 6
Osteopenia, Neutropenia, Anemia, Increased mean corpuscular volume, Persistence of hemoglobin F, ... OMIM:618849
Hemoglobin C-Beta-Thalassemia Syndrome
Microcytic anemia, Anemia, Splenomegaly, Abnormal hemoglobin ORPHA:231242
Eosinophilia, Familial
Eosinophilia, Leukocytosis, Thrombocytopenia, Anemia, Myocardial eosinophilic infiltration OMIM:131400
Anemia, Hypochromic Microcytic, With Iron Overload 2
Poikilocytosis, Splenomegaly, Hepatomegaly, Anemia, Decreased mean corpuscular volume, Hypochromia OMIM:615234
Bleeding Disorder, Platelet-Type, 9
Thrombocytopenia OMIM:614200
Deafness, Autosomal Dominant 1, With Or Without Thrombocytopenia
Thrombocytopenia OMIM:124900
Diamond-Blackfan Anemia 8
Neutropenia, Increased mean corpuscular volume, Macrocytic anemia OMIM:612563
Thrombocytopenia, Cyclic
Neutropenia, Cyclic neutropenia, Thrombocytopenia OMIM:188020
Erythroleukemia, Familial, Susceptibility To
Leukemia, Acute myeloid leukemia, Splenomegaly, Hepatomegaly, Anemia, Erythroid hyperplasia, Thro... OMIM:133180
Methemoglobinemia, Beta Type
Methemoglobinemia OMIM:617971
Methemoglobinemia, Alpha Type
Methemoglobinemia OMIM:617973
Acetophenetidin Sensitivity
Methemoglobinemia, Hemolytic anemia OMIM:200300
Pancytopenia And Occlusive Vascular Disease
Pancytopenia, Anemia, Leukopenia, Thrombocytopenia OMIM:167850
Delta-Beta-Thalassemia
Microcytic anemia, Anemia, Abnormal hemoglobin ORPHA:231237
Diamond-Blackfan Anemia 6
Tetralogy of Fallot, Macrocytic anemia, Atrial septal defect, Increased mean corpuscular volume, ... OMIM:612561
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Leukopenia, Splenomegaly, Hepatomegaly, Neutropenia, Anemia, Thrombocytopenia, Extramedullary hem... OMIM:615285
Dehydrated Hereditary Stomatocytosis
Schistocytosis, Reticulocytosis, Macrocytic anemia, Increased mean corpuscular hemoglobin concent... ORPHA:3202
Overhydrated Hereditary Stomatocytosis
Decreased mean corpuscular hemoglobin concentration, Splenomegaly, Anisocytosis, Abnormal mean co... ORPHA:3203
Macrothrombocytopenia, Isolated, 1, Autosomal Dominant
Macrothrombocytopenia OMIM:613112
Amegakaryocytic Thrombocytopenia, Congenital
Pancytopenia, Amegakaryocytic thrombocytopenia, Thrombocytopenia OMIM:604498
Familial Pseudohyperkalemia
Reticulocytosis, Episodic hemolytic anemia, Increased mean corpuscular volume, Stomatocytosis ORPHA:90044
Thrombocytopenia 7
Impaired ADP-induced platelet aggregation, Impaired arachidonic acid-induced platelet aggregation... OMIM:619130
Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome
Amegakaryocytic thrombocytopenia ORPHA:71289
Cyanosis, Transient Neonatal
Reticulocytosis, Anemia, Methemoglobinemia, Hepatomegaly OMIM:613977
Beemer Lethal Malformation Syndrome
Thrombocytopenia OMIM:209970
Oslam Syndrome
Abnormality of neutrophils, Increased mean corpuscular volume ORPHA:2760
Bleeding Disorder, Platelet-Type, 16
Impaired platelet aggregation, Macrothrombocytopenia, Platelet anisocytosis, Giant platelets, Ane... OMIM:187800
Thrombocytopenia, Anemia, And Myelofibrosis
Myelofibrosis, Splenomegaly, Anemia, Anisopoikilocytosis, Thrombocytopenia OMIM:617441
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Hepatosplenomegaly, Anisocytosis, Splenomegaly, Hepatomegaly, Anemia, Erythroid hyperplasia, Type... OMIM:616860
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Osteopenia, Splenomegaly, Hepatomegaly, Anemia, Hypocholesterolemia, Hypersplenism, Thrombocytopenia OMIM:610539
Anemia, Sideroblastic, 5
Neutropenia, Anemia, Thrombocytopenia, Reduced hematocrit, Hypochromic microcytic anemia OMIM:619523
Alpha-Thalassemia-Myelodysplastic Syndrome
Microcytic anemia, Splenomegaly, HbH hemoglobin, Neutropenia, Acute leukemia, Thrombocytopenia ORPHA:231401
Fetal Parvovirus Syndrome
Anemia, Hypertrophic cardiomyopathy, Thrombocytopenia ORPHA:295
Sea-Blue Histiocyte Disease
Sea-blue histiocytosis, Splenomegaly, Thrombocytopenia OMIM:269600
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension
Thrombocytopenia OMIM:166990
Osteopetrosis, Autosomal Recessive 8
Splenomegaly, Hepatomegaly, Anemia, Osteopetrosis, Thrombocytopenia OMIM:615085
Congenital Dyserythropoietic Anemia Type Iii
Anisocytosis, Anemia, Increased mean corpuscular volume, Abnormal erythrocyte morphology, Poikilo... ORPHA:98870
Alpha-Thalassemia Myelodysplasia Syndrome
Hypochromic microcytic anemia, Reduced alpha/beta synthesis ratio, HbH hemoglobin OMIM:300448
Bone Marrow Failure Syndrome 2
Anemia, Leukopenia, Thrombocytopenia OMIM:615715
Niemann-Pick Disease, Type B
Splenomegaly, Hepatomegaly, Anemia, Bone-marrow foam cells, Hypertriglyceridemia, Thrombocytopeni... OMIM:607616
Polycythemia Vera
Leukocytosis, Increased hemoglobin, Increased hematocrit, Thrombocytosis, Splenomegaly, Increased... OMIM:263300
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Abnormal reticulocyte morphology, Macrocytic anemia, Increased hemoglobin, Impaired platelet aggr... OMIM:300835
Acute Myelomonocytic Leukemia
Eosinophilia, Leukocytosis, Thrombocytopenia, Anemia ORPHA:517
Spastic Paraplegia And Evans Syndrome
Coombs-positive hemolytic anemia, Autoimmune thrombocytopenia OMIM:601608
Refractory Anemia
Normocytic anemia, Neutropenia, Macrocytic anemia, Normochromic anemia, Anemia of inadequate prod... ORPHA:98826
Bilateral Striopallidodentate Calcinosis
Thrombocytopenia, Hepatomegaly ORPHA:1980
Hemophagocytic Lymphohistiocytosis, Familial, 4
Hemophagocytosis, Splenomegaly, Hepatomegaly, Neutropenia, Anemia, Hypertriglyceridemia, Thromboc... OMIM:603552
Fanconi Anemia, Complementation Group G
Neutropenia, Anemia, Thrombocytopenia, Leukemia OMIM:614082
Preeclampsia/Eclampsia 1
Thrombocytopenia OMIM:189800
Alpha-Thalassemia
Microcytic anemia, Splenomegaly, Anemia, Hemolytic anemia, Abnormal hemoglobin, Hypersplenism ORPHA:846
Platelet Glycoprotein Iv Deficiency
Giant platelets, Thrombocytopenia OMIM:608404
Majeed Syndrome
Microcytic anemia, Hepatosplenomegaly, Erythroid hyperplasia, Decreased mean corpuscular volume, ... OMIM:609628
Forsythe-Wakeling Syndrome
Thrombocytopenia, Osteoporosis OMIM:613606
Elliptocytosis 3
Decreased mean corpuscular volume, Pyropoikilocytosis, Chronic hemolytic anemia, Elliptocytosis OMIM:617948
Fanconi Anemia, Complementation Group T
Pancytopenia, Anemia, Thrombocytopenia OMIM:616435
Cernunnos-Xlf Deficiency
T lymphocytopenia, Thrombocytopenia, Anemia, B lymphocytopenia, Lymphopenia ORPHA:169079
Erythrocytosis, Familial, 3
Increased red blood cell mass, Increased hemoglobin, Increased hematocrit OMIM:609820
Ghosal Hematodiaphyseal Dysplasia
Myelofibrosis, Leukopenia, Increased bone mineral density, Hyperostosis cranialis interna, Thromb... OMIM:231095
Atypical Hemolytic Uremic Syndrome
Microangiopathic hemolytic anemia, Thrombocytopenia ORPHA:2134
Diamond-Blackfan Anemia 7
Tetralogy of Fallot, Osteopenia, Osteoporosis, Neutropenia, Increased mean corpuscular volume, Ve... OMIM:612562
Erythrocytosis, Familial, 4
Polycythemia, Increased hemoglobin, Increased hematocrit OMIM:611783
Gray Platelet Syndrome
Splenomegaly, Thrombocytopenia, Abnormality of thrombocytes ORPHA:721
Acquired Idiopathic Sideroblastic Anemia
Pancytopenia, Hypochromic anemia, Leukocytosis, Granulocytopenia, Normocytic anemia, Thrombocytos... ORPHA:75564
Beta-Thalassemia
Microcytic anemia, Hypertrophic cardiomyopathy, Splenomegaly, Hepatomegaly, Anemia, Abnormal hemo... ORPHA:848
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia
Hepatosplenomegaly, Hemolytic anemia, Reticulocytosis, Decreased mean corpuscular volume, Rickets OMIM:611590
Roch-Leri Mesosomatous Lipomatosis
Thrombocytopenia ORPHA:529
Dk Phocomelia Syndrome
Thrombocytopenia OMIM:223340
Macrothrombocytopenia and progressive sensorineural deafness
Giant platelets, Thrombocytopenia, Macrothrombocytopenia OMIM:600208
Erythrocytosis, Familial, 5
Increased hemoglobin, Increased hematocrit, Polycythemia OMIM:617907
Erythrocytosis, Familial, 6
Increased hemoglobin, Increased hematocrit, Polycythemia OMIM:617980
Bleeding Disorder, Platelet-Type, 15
Platelet anisocytosis, Thrombocytopenia, Increased mean platelet volume OMIM:615193
Pseudo-Von Willebrand Disease
Intermittent thrombocytopenia OMIM:177820
Bleeding Disorder, Platelet-Type, 24
Impaired ADP-induced platelet aggregation, Impaired epinephrine-induced platelet aggregation, Imp... OMIM:619271
Platelet Signal Processing Defect
Impaired ADP-induced platelet aggregation, Thrombocytopenia, Impaired collagen-induced platelet a... OMIM:173590
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Hepatosplenomegaly, Hemophagocytosis, Splenomegaly, Anemia, Hypertriglyceridemia, Thrombocytopenia OMIM:613101
Osteopetrosis, Autosomal Recessive 4
Hepatosplenomegaly, Splenomegaly, Hepatomegaly, Anemia, Osteopetrosis, Reticulocytosis, Thrombocy... OMIM:611490
Thrombocytopenia With Congenital Dyserythropoietic Anemia
Hypochromic anemia, Macrothrombocytopenia, Anisocytosis, Anemia of inadequate production, Poikilo... ORPHA:67044
Malaria
Anemia, Thrombocytopenia ORPHA:673
3-Methylglutaconic Aciduria Type 4
Cardiomyopathy, Hypoglycemia, Thrombocytopenia ORPHA:67048
Methylcobalamin Deficiency Type Cble
Pancytopenia, Osteoporosis, Neutropenia, Increased mean corpuscular volume, Macrocytic anemia ORPHA:2169
Wolfram Syndrome, Mitochondrial Form
Sideroblastic anemia, Megaloblastic anemia, Neutropenia, Diabetes mellitus, Thrombocytopenia OMIM:598500
Nephrotic Syndrome, Type 7
Hemolytic anemia, Thrombocytopenia OMIM:615008
Bleeding Disorder, Platelet-Type, 19
Anemia, Macrothrombocytopenia OMIM:616176
Erythrocytosis, Familial, 7
Increased hematocrit, Polycythemia OMIM:617981
Sebastian syndrome
Giant platelets, Thrombocytopenia, Leukocyte inclusion bodies, Neutrophil inclusion bodies OMIM:605249
Giant platelet syndrome with thrombocytopenia
Giant platelets, Thrombocytopenia OMIM:137560
Ataxia-Pancytopenia Syndrome
Pancytopenia, Hypoplastic anemia, Neutropenia, Anemia, Thrombocytopenia, Acute myelomonocytic leu... OMIM:159550
Erythrocytosis, Familial, 1
Splenomegaly, Increased red blood cell mass, Increased hemoglobin, Increased hematocrit OMIM:133100
Thrombocytopenia 5
Neutropenia, Anemia, Thrombocytopenia OMIM:616216
Beta-Thalassemia Intermedia
Hepatosplenomegaly, Leukocytosis, Osteopenia, Splenomegaly, Hepatomegaly, Osteoporosis, Increased... ORPHA:231222
Combined Oxidative Phosphorylation Deficiency 41
Anemia, Cardiomegaly, Hypoglycemia, Decreased circulating cortisol level OMIM:618838
Shwachman-Diamond Syndrome
Pancytopenia, Leukopenia, Normocytic anemia, Leukemia, Impaired neutrophil chemotaxis, Transient ... ORPHA:811
Hemangioma-Thrombocytopenia Syndrome
Microangiopathic hemolytic anemia, Thrombocytopenia OMIM:141000
Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency
Anemia, Hypoglycemia OMIM:610090
Adenosine Triphosphate, Elevated, Of Erythrocytes
Reduced erythrocyte 2,3-diphosphoglycerate concentration, Polycythemia OMIM:102900
Thrombocytopenia With Beta-Thalassemia, X-Linked
Reticulocytosis, Splenomegaly, Thrombocytopenia, Hemolytic anemia OMIM:314050
Thiamine-Responsive Megaloblastic Anemia Syndrome
Atrial septal defect, Megaloblastic anemia, Ventricular septal defect, Diabetes mellitus, Thrombo... ORPHA:49827
Thiamine-Responsive Megaloblastic Anemia Syndrome
Sideroblastic anemia, Atrial septal defect, Situs inversus totalis, Cardiomyopathy, Thiamine-resp... OMIM:249270
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Sideroblastic anemia, Thrombocytopenia, Ventricular septal defect OMIM:617021
Aicardi-Goutieres Syndrome 3
Hepatosplenomegaly, Thrombocytopenia OMIM:610329
Methylmalonic Aciduria And Homocystinuria, Cbld Type
Megaloblastic anemia, Increased mean corpuscular volume OMIM:277410
Wiskott-Aldrich Syndrome 2
Thrombocytopenia, Decreased proportion of CD8-positive T cells OMIM:614493
Bleeding Disorder, Platelet-Type, 20
Thrombocytopenia OMIM:616913
Von Willebrand Disease, Type 2
Thrombocytopenia OMIM:613554
Phosphoglycerate Dehydrogenase Deficiency
Megaloblastic anemia, Thrombocytopenia OMIM:601815
Beta-Thalassemia
Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia OMIM:613985
Alpha-Thalassemia
Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia OMIM:604131
Pontocerebellar Hypoplasia, Type 15
Chronic neutropenia, Thrombocytopenia, Anemia OMIM:619302
Blackfan-Diamond Anemia
Leukopenia, Thrombocytosis, Atrial septal defect, Erythroid hypoplasia, Acute myeloid leukemia, E... ORPHA:124
Hb Bart'S Hydrops Fetalis
Splenomegaly, Hepatomegaly, Anemia, Pericarditis, Abnormal hemoglobin ORPHA:163596
Transaldolase Deficiency
Hepatosplenomegaly, Atrial septal defect, Biventricular hypertrophy, Anemia, Thrombocytopenia ORPHA:101028
Refractory Anemia With Excess Blasts
Leukocytosis, Acute myeloid leukemia, Abnormal mean corpuscular volume, Anemia of inadequate prod... ORPHA:86839
Immunodeficiency 46
Neutropenia, Anemia, Intermittent thrombocytopenia OMIM:616740
16Q24.3 Microdeletion Syndrome
Increased mean corpuscular volume, Dilated cardiomyopathy, Thrombocytopenia, Ventricular septal d... ORPHA:261250
Congenital Toxoplasmosis
Anemia, Cardiomegaly, Thrombocytopenia, Hepatomegaly ORPHA:858
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts
Hepatosplenomegaly, Anemia, Anisopoikilocytosis, Dysplastic erythropoesis, Reticulocytopenia, Dec... ORPHA:300298
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2
Neutropenia, Anemia, Congenital thrombocytopenia, Thrombocytopenia OMIM:616738
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency
Pancytopenia, Megaloblastic anemia, Thrombocytopenia, Hepatomegaly OMIM:613839
Anemia, Congenital Dyserythropoietic, Type Iv
Schistocytosis, Reticulocytosis, Circulating nucleated red blood cells, Hepatosplenomegaly, Poiki... OMIM:613673
Chronic Myeloid Leukemia
Leukocytosis, Thrombocytosis, Myeloproliferative disorder, Splenomegaly, Thrombocytopenia, Abnorm... ORPHA:521
Thrombocytopenia, X-Linked, With Or Without Dyserythropoietic Anemia
Anemia of inadequate production, Congenital thrombocytopenia, Poikilocytosis, Acanthocytosis OMIM:300367
Glycogen Storage Disease Ixa1
Hypoglycemia, Hepatomegaly, Hypertriglyceridemia, Hypercholesterolemia OMIM:306000
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss
Giant platelets, Thrombocytopenia, Leukocyte inclusion bodies, Neutrophil inclusion bodies OMIM:155100
Moyamoya Disease With Early-Onset Achalasia
Abnormal platelet aggregation, Thrombocytopenia ORPHA:401945
Fanconi Anemia, Complementation Group V
Neutropenia, Anemia, Thrombocytopenia OMIM:617243
Diffuse Neonatal Hemangiomatosis
Anemia, Thrombocytopenia, Hepatomegaly ORPHA:2123
Wt Limb-Blood Syndrome
Pancytopenia, Thrombocytopenia, Leukemia, Hypoplastic anemia OMIM:194350
Primary Familial Polycythemia
Abnormal hemoglobin, Polycythemia ORPHA:90042
Congenital Disorder Of Glycosylation, Type Iik
Osteoporosis, Thrombocytopenia, Hepatomegaly OMIM:614727
Thrombocytopenia With Elevated Serum Iga And Renal Disease
Thrombocytopenia OMIM:314000
Diamond-Blackfan Anemia 12
Elevated red cell adenosine deaminase level, Ventricular septal defect, Macrocytic anemia, Reticu... OMIM:615550
Glycogen Storage Disease Vi
Hypoglycemia, Hyperlipidemia, Hypercholesterolemia, Hepatomegaly, Hypertriglyceridemia OMIM:232700
Sengers Syndrome
Hypertrophic cardiomyopathy, Thrombocytopenia OMIM:212350
Osteopetrosis, Autosomal Recessive 2
Pancytopenia, Cranial hyperostosis, Diaphyseal sclerosis, Hepatosplenomegaly, Anemia, Osteopetros... OMIM:259710
Gamma-Heavy Chain Disease
Abnormal lymphocyte morphology, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenom... ORPHA:100026
Retinitis Pigmentosa And Erythrocytic Microcytosis
Anisocytosis, Anemia, Elliptocytosis, Decreased mean corpuscular volume, Poikilocytosis OMIM:616959
Bernard-Soulier Syndrome
Giant platelets, Thrombocytopenia, Impaired ristocetin-induced platelet aggregation, Macrothrombo... OMIM:231200
Diabetes Mellitus, Transient Neonatal, 3
Maternal diabetes, Elevated hemoglobin A1c, Hyperglycemia, Transient neonatal diabetes mellitus OMIM:610582
Congenital Rubella Syndrome
Atrial septal defect, Splenomegaly, Hepatomegaly, Anemia, Ventricular septal defect, Thrombocytop... ORPHA:290
Bone Marrow Failure Syndrome 4
Anemia, Leukopenia, Thrombocytopenia OMIM:618116
Beta-Thalassemia Major
Dilated cardiomyopathy, Hepatosplenomegaly, Decreased mean corpuscular hemoglobin concentration, ... ORPHA:231214
Autoinflammatory Syndrome, Familial, Behcet-Like 1
Hemolytic anemia, Lymphopenia, Thrombocytopenia OMIM:616744
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase
Methemoglobinemia, Polycythemia OMIM:250800
Transcobalamin Deficiency
Pancytopenia, Neutropenia, Lymphopenia, Thrombocytopenia ORPHA:859
Dominant Beta-Thalassemia
Dilated cardiomyopathy, Hepatosplenomegaly, Decreased mean corpuscular hemoglobin concentration, ... ORPHA:231226
Gaucher Disease, Type Ii
Anemia, Thrombocytopenia, Hepatomegaly, Splenomegaly OMIM:230900
Non-Involuting Congenital Hemangioma
Thrombocytopenia ORPHA:141179
Vitamin B12-Unresponsive Methylmalonic Acidemia
Leukopenia, Hepatomegaly, Anemia, Cardiomyopathy, Macrocytic anemia, Thrombocytopenia ORPHA:27
Combined Oxidative Phosphorylation Deficiency 14
Anemia, Thrombocytopenia OMIM:614946
Pontocerebellar Hypoplasia, Type 14
Chronic neutropenia, Thrombocytopenia OMIM:619301
Lymphoproliferative Syndrome 1
Pancytopenia, Leukopenia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Decreased pro... OMIM:613011
Gray Platelet Syndrome
Abnormal number of alpha granules, Myelofibrosis, Impaired collagen-induced platelet aggregation,... OMIM:139090
Systemic Lupus Erythematosus
Leukopenia, Thrombocytopenia, Hemolytic anemia, Pericarditis OMIM:152700
Asplenia, Isolated Congenital
Thrombocytosis, Howell-Jolly bodies, Asplenia OMIM:271400
Diamond-Blackfan Anemia 4
Atrial septal defect, Neutropenia, Macrocytic anemia, Reticulocytopenia, Erythroid hypoplasia OMIM:612527
Diabetes Mellitus, Permanent Neonatal, 4
Diabetic ketoacidosis, Elevated hemoglobin A1c, Hyperglycemia, Type I diabetes mellitus OMIM:618858
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Splenomegaly, Hepatomegaly, Neutropenia, Anemia, Cardiomyopathy, Thrombocytopenia ORPHA:79312
Aicardi-Goutieres Syndrome 4
Pancytopenia, Hepatosplenomegaly, Splenomegaly, Hepatomegaly, Thrombocytopenia OMIM:610333
Babesiosis
Leukopenia, Splenomegaly, Hepatomegaly, Hemolytic anemia, Thrombocytopenia ORPHA:108
Thyrocerebrorenal Syndrome
Thrombocytopenia ORPHA:3327
Gaucher Disease, Type Iii
Pancytopenia, Thrombocytopenia, Hepatomegaly, Splenomegaly OMIM:231000
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Pancytopenia, Hepatosplenomegaly, Hemophagocytosis, Acute myeloid leukemia, Splenomegaly, Neutrop... ORPHA:158057
Idiopathic Aplastic Anemia
Pancytopenia, Neutropenia, Anemia, Reticulocytopenia, Thrombocytopenia ORPHA:88
Pericardial Effusion, Chronic
Constrictive pericarditis, Pericardial effusion, Polycythemia OMIM:260900
Leishmaniasis
Pancytopenia, Abnormal macrophage morphology, Leukopenia, Splenomegaly, Hepatomegaly, Anemia, Thr... ORPHA:507
Thrombotic Thrombocytopenic Purpura
Reticulocytosis, Microangiopathic hemolytic anemia, Thrombocytopenia ORPHA:54057
Slc35A1-Cdg
Neutropenia, Giant platelets, Thrombocytopenia, Abnormal platelet granules ORPHA:238459
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Neutropenia, Anemia, Thrombocytopenia, Hepatomegaly ORPHA:289916
Specific Granule Deficiency 2
Osteopenia, Neutropenia, Anemia, Absent neutrophil specific granules, Thrombocytopenia OMIM:617475
Rapidly Involuting Congenital Hemangioma
Thrombocytopenia ORPHA:141184
Amed Syndrome, Digenic
Anemia, Leukopenia, Acute myeloid leukemia, Thrombocytopenia OMIM:619151
Fechtner syndrome
Giant platelets, Thrombocytopenia, Leukocyte inclusion bodies, Neutrophil inclusion bodies OMIM:153640
Omenn Syndrome
Eosinophilia, Splenomegaly, Hepatomegaly, Severe B lymphocytopenia, Anemia, B lymphocytopenia, Hy... OMIM:603554
Primary Myelofibrosis
Pancytopenia, Hepatosplenomegaly, Leukocytosis, Thrombocytosis, Splenomegaly, Hepatomegaly, Anemi... ORPHA:824
Thrombocytopenia 6
Myelofibrosis, Thrombocytopenia, Osteoporosis OMIM:616937
Hermansky-Pudlak Syndrome 9
Leukopenia, Thrombocytopenia OMIM:614171
Aicardi-Goutieres Syndrome 7
Thrombocytopenia, Hepatomegaly, Splenomegaly OMIM:615846
+173470 integrin, beta-3
Neonatal alloimmune thrombocytopenia, Decreased platelet glycoprotein IIb-IIIa, Post-transfusion ... OMIM:173470
Folate Malabsorption, Hereditary
Neutropenia, Leukopenia, Thrombocytopenia, Folate-responsive megaloblastic anemia OMIM:229050
Hyperinsulinism Due To Insr Deficiency
Hypoglycemia, Insulin resistance, Recurrent hypoglycemia, Fasting hyperinsulinemia, Hyperinsuline... ORPHA:263458
Combined Oxidative Phosphorylation Deficiency 34
Pancytopenia, Hypoglycemia, Hepatomegaly OMIM:617872
Noonan Syndrome 12
Tetralogy of Fallot, Lymphopenia, Thrombocytopenia, Ventricular septal defect OMIM:618624
Thrombocytopenia, Paris-Trousseau Type
Thrombocytopenia OMIM:188025
Erythrocytosis, Familial, 2
Increased red blood cell mass, Increased hemoglobin, Increased hematocrit OMIM:263400
Propionic Acidemia
Pancytopenia, Hypoglycemia, Osteoporosis, Hepatomegaly, Neutropenia, Anemia, Cardiomyopathy, Thro... OMIM:606054
Tufted Angioma
Anemia, Thrombocytopenia ORPHA:1063
Platelet Disorder, Familial, With Associated Myeloid Malignancy
Impaired platelet aggregation, Acute myeloid leukemia, Abnormal dense granule content, Acute mono... OMIM:601399
Autoinflammation With Infantile Enterocolitis
Pancytopenia, Splenomegaly, Anemia, Thrombocytopenia, Reduced natural killer cell count OMIM:616050
Platelet Disorder, Undefined
Thrombocytopenia, Impaired platelet aggregation OMIM:173420
Thrombocythemia 1
Impaired ADP-induced platelet aggregation, Impaired epinephrine-induced platelet aggregation, Thr... OMIM:187950
Congenital Disorder Of Glycosylation, Type Ih
Hepatomegaly, Anemia, Abnormal heart morphology, Thrombocytopenia, Abnormal cardiac septum morpho... OMIM:608104
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Hepatosplenomegaly, Leukocytosis, Anisocytosis, Hepatomegaly, Chronic hemolytic anemia, Hemolytic... OMIM:618278
Imerslund-Gräsbeck Syndrome
Pancytopenia, Hypersegmentation of neutrophil nuclei, Megaloblastic anemia, Abnormal hemoglobin c... ORPHA:35858
Hyperinsulinemic Hypoglycemia, Familial, 7
Hypoglycemic seizures, Hypoglycemia, Hyperinsulinemic hypoglycemia, Hyperinsulinemia OMIM:610021
Diabetes Mellitus, Permanent Neonatal, 1
Elevated hemoglobin A1c, Hyperglycemia, Type I diabetes mellitus, Diabetes mellitus OMIM:606176
Neonatal Lupus Erythematosus
Pancytopenia, Dilated cardiomyopathy, Splenomegaly, Hepatomegaly, Neutropenia, Anemia, Abnormal h... ORPHA:398124
Dyskeratosis Congenita, Autosomal Recessive 2
Pancytopenia, Thrombocytopenia OMIM:613987
Erythrocytosis, Familial, 8
Normocytic anemia, Splenomegaly, Nonspherocytic hemolytic anemia, Polycythemia, Normochromic anemia OMIM:222800
Aggressive Systemic Mastocytosis
Pancytopenia, Abnormal mast cell morphology, Hepatosplenomegaly, Leukemia, Leukocytosis, Osteopor... ORPHA:98850
Sea-Blue Histiocytosis
Hepatomegaly, Sea-blue histiocytosis, Splenomegaly, Thrombocytopenia ORPHA:158029
Preeclampsia
Thrombocytopenia, Type I diabetes mellitus ORPHA:275555
Thyrocerebroretinal Syndrome
Thrombocytopenia OMIM:274240
Proteasome-Associated Autoinflammatory Syndrome 2
Thrombocytopenia OMIM:618048
Lymphoproliferative Syndrome, X-Linked, 1
Pancytopenia, Hemophagocytosis, Splenomegaly, Hepatomegaly, Neutropenia, Aplastic anemia, Lymphoc... OMIM:308240
Osteopetrosis, Autosomal Recessive 1
Pancytopenia, Craniosynostosis, Increased bone mineral density, Splenomegaly, Hepatomegaly, Anemi... OMIM:259700
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure
Thrombocytopenia OMIM:254900
Isolated Agammaglobulinemia
Abnormality of neutrophils, Anemia, Abnormal lymphocyte morphology, Thrombocytopenia ORPHA:229717
Mitochondrial Complex I Deficiency, Nuclear Type 20
Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Thrombocytopenia, Hypoglycemia OMIM:611126
Diamond-Blackfan Anemia 5
Leukopenia, Ventricular septal defect, Macrocytic anemia, Reticulocytopenia, Erythroid hypoplasia OMIM:612528
Pseudo-Torch Syndrome 3
Congenital thrombocytopenia, Anemia, Cardiomegaly, Leukocytosis OMIM:618886
Bleeding Disorder, Platelet-Type, 21
Thrombocytopenia, Impaired platelet aggregation OMIM:617443
Gaucher Disease Type 1
Pancytopenia, Abnormal myocardium morphology, Leukopenia, Increased bone mineral density, Osteope... ORPHA:77259
Epidermolysis Bullosa Simplex 7, With Nephropathy And Deafness
Reduced beta/alpha synthesis ratio OMIM:609057
Wolfram Syndrome 1
Sideroblastic anemia, Megaloblastic anemia, Cardiomyopathy, Diabetes mellitus, Thrombocytopenia OMIM:222300
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Eosinophilia, Coombs-positive hemolytic anemia, Autoimmune thrombocytopenia, Neutropenia, Anemia,... OMIM:304790
Macrophage Activation Syndrome
Hemophagocytosis, Splenomegaly, Abnormal natural killer cell count, Hepatomegaly, Neutropenia, An... ORPHA:158061
Aicardi-Goutieres Syndrome 5
Thrombocytopenia OMIM:612952
Shwachman-Diamond Syndrome 1
Pancytopenia, Acute myeloid leukemia, Hepatomegaly, Irregular ossification at anterior rib ends, ... OMIM:260400
Rhabdoid Tumor
Anemia, Thrombocytopenia ORPHA:69077
Castleman Disease
Myelofibrosis, Anemia, Restrictive cardiomyopathy, Decreased mean corpuscular volume, Thrombocyto... ORPHA:160
Congenital Disorder Of Glycosylation, Type Iig
Anemia, Left ventricular hypertrophy, Thrombocytopenia, Osteopenia OMIM:611209
Autoimmune Lymphoproliferative Syndrome, Type Iia
Eosinophilia, Coombs-positive hemolytic anemia, Autoimmune hemolytic anemia, Autoimmune thrombocy... OMIM:603909
Bleeding Disorder, Platelet-Type, 17
Absence of alpha granules, Myelofibrosis, Thrombocytopenia, Abnormality of thrombocytes OMIM:187900
Immunodeficiency, Common Variable, 12, With Autoimmunity
Autoimmune hemolytic anemia, Thrombocytopenia OMIM:616576
Drug-Induced Lupus Erythematosus
Anemia, Thrombocytopenia, Pericardial effusion, Pericarditis ORPHA:231111
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Neutropenia, Anemia, Atrial septal defect, Thrombocytopenia OMIM:614857
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Leukopenia, Monocytosis, Atrial septal defect, Cor triatriatum, Splenomegaly, Hepatomegaly, Pulmo... OMIM:612541
Isovaleric Acidemia
Pancytopenia, Leukopenia, Thrombocytopenia OMIM:243500
Letterer-Siwe Disease
Neutropenia, Anemia, Hepatosplenomegaly, Thrombocytopenia OMIM:246400
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Abnormal CD4:CD8 ratio, Intermittent thrombocytopenia, Splenomegaly, Neutropenia, B lymphocytopenia OMIM:150550
Tempi Syndrome
Increased hematocrit, Polycythemia ORPHA:284227
Methemoglobinemia And Ambiguous Genitalia
Methemoglobinemia OMIM:250790
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3
Microangiopathic hemolytic anemia, Anemia, Thrombocytopenia OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2
Microangiopathic hemolytic anemia, Anemia, Thrombocytopenia OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5
Microangiopathic hemolytic anemia, Anemia, Thrombocytopenia OMIM:612925
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4
Microangiopathic hemolytic anemia, Anemia, Thrombocytopenia OMIM:612924
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6
Microangiopathic hemolytic anemia, Anemia, Thrombocytopenia OMIM:612926
Stormorken Syndrome
Anemia, Thrombocytopenia, Asplenia, Howell-Jolly bodies OMIM:185070
Quebec Platelet Disorder
Thrombocytopenia, Impaired epinephrine-induced platelet aggregation OMIM:601709
Immunodeficiency 10
Autoimmune hemolytic anemia, Thrombocytopenia OMIM:612783
Felty Syndrome
Abnormal lymphocyte morphology, Splenomegaly, Hepatomegaly, Neutropenia, Anemia, Osteolysis, Peri... ORPHA:47612
Gaucher Disease, Type I
Pancytopenia, Aortic valve stenosis, Splenomegaly, Hepatomegaly, Anemia, Hypersplenism, Thrombocy... OMIM:230800
Combined Oxidative Phosphorylation Deficiency 40
Anemia, Decreased circulating cortisol level, Hypertrophic cardiomyopathy, Hypoglycemia OMIM:618835
Combined Oxidative Phosphorylation Deficiency 42
Anemia, Decreased circulating cortisol level, Hypoglycemia, Cardiomyopathy OMIM:618839
Pulmonary Fibrosis-Hepatic Hyperplasia-Bone Marrow Hypoplasia Syndrome
Hepatosplenomegaly, Thrombocytopenia, Myocardial fibrosis ORPHA:210136
Dyskeratosis Congenita, Autosomal Dominant 2
Pancytopenia, Dilated cardiomyopathy, Leukopenia, Osteoporosis, Aplastic anemia, Thrombocytopenia OMIM:613989
Pelger-Huet Anomaly
Giant platelets, Abnormality of neutrophils, Neutropenia, Hyposegmentation of neutrophil nuclei, ... OMIM:169400
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Anemia, Leukopenia, Thrombocytopenia, Diabetes mellitus OMIM:613845
Transaldolase Deficiency
Pancytopenia, Hepatosplenomegaly, Patent foramen ovale, Atrial septal defect, Splenomegaly, Hepat... OMIM:606003
Aregenerative Anemia
Pancytopenia, Decreased proportion of CD4-positive helper T cells, Abnormal proportion of CD8-pos... ORPHA:101096
Lysosomal Acid Lipase Deficiency
Leukopenia, Hepatosplenomegaly, Hypercholesterolemia, Splenomegaly, Hepatomegaly, Anemia, Bone-ma... OMIM:278000
Beemer-Ertbruggen Syndrome
Thrombocytopenia, Increased bone mineral density ORPHA:1237
Myh9-Related Disease
Giant platelets, Congenital thrombocytopenia, Increased mean platelet volume, Neutrophil inclusio... ORPHA:182050
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
Schistocytosis, Hyperlipidemia, Reticulocytosis, Microangiopathic hemolytic anemia, Thrombocytopenia OMIM:235400
Portal Hypertension, Noncirrhotic, 2
Hepatomegaly, Splenomegaly, Thrombocytopenia OMIM:619463
Congenital Disorder Of Glycosylation, Type Iif
Neutropenia, Thrombocytopenia, Decreased platelet glycoprotein Ib, Macrothrombocytopenia OMIM:603585
Immune Thrombocytopenia
Thrombocytopenia ORPHA:3002
Deafness-Lymphedema-Leukemia Syndrome
Leukocytosis, Abnormal neutrophil count, Myeloproliferative disorder, Splenomegaly, Hepatomegaly,... ORPHA:3226
Fetal Gaucher Disease
Pancytopenia, Splenomegaly, Hepatomegaly, Abnormality of the spleen, Thrombocytopenia ORPHA:85212
Osteopetrosis, Autosomal Recessive 5
Pancytopenia, Cranial hyperostosis, Leukocytosis, Increased bone mineral density, Decreased osteo... OMIM:259720
Stt3B-Cdg
Thrombocytopenia ORPHA:370924
Thrombocytopenia 3
Thrombocytopenia, Decreased mean platelet volume OMIM:273900
Agammaglobulinemia 9, Autosomal Recessive
Thrombocytopenia, Absent circulating B cells OMIM:619693
Congenital Disorder Of Glycosylation, Type Ix
Thrombocytopenia OMIM:615597
Systemic Mastocytosis With Associated Hematologic Neoplasm
Eosinophilia, Abnormal mast cell morphology, Leukocytosis, Normocytic anemia, Chronic myelomonocy... ORPHA:98849
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia
Lymphocytosis, Thrombocytopenia, Decreased mean platelet volume OMIM:617718
Congenital Enterovirus Infection
Abnormal macrophage morphology, Leukopenia, Leukocytosis, Myocarditis, Neutropenia, Anemia, Cardi... ORPHA:292
Gaucher Disease Type 3
Pancytopenia, Abnormal myocardium morphology, Abnormal heart valve morphology, Increased bone min... ORPHA:77261
Proteasome-Associated Autoinflammatory Syndrome 3
Splenomegaly, Hepatomegaly, Thrombocytopenia, Anemia, Hypertriglyceridemia, Lymphopenia OMIM:617591
Hemophagocytic Syndrome Associated With An Infection
Pancytopenia, Hemophagocytosis, Splenomegaly, Abnormal natural killer cell count, Hepatomegaly, N... ORPHA:158048
Necrotizing Enterocolitis
Leukocytosis, Neutropenia, Abnormal heart morphology, Hyperglycemia, Thrombocytopenia, Abnormal g... ORPHA:391673
Methylmalonic Aciduria, Cblb Type
Pancytopenia, Hepatomegaly, Neutropenia, Anemia, Thrombocytopenia OMIM:251110
Tangier Disease
Hepatosplenomegaly, Coronary artery stenosis, Anemia, Hypertriglyceridemia, Hypocholesterolemia, ... ORPHA:31150
Cog4-Cdg
Hepatosplenomegaly, Thrombocytopenia, Hypercholesterolemia ORPHA:263501
Mitochondrial Complex Iii Deficiency, Nuclear Type 10
Hypertrophic cardiomyopathy, Ventricular septal defect, Normochromic anemia, Thrombocytopenia, Pe... OMIM:618775
Insulin-Resistance Syndrome Type B
Glycosuria, Diabetic ketoacidosis, Fasting hypoglycemia, Leukopenia, Insulin resistance, Hyperins... ORPHA:2298
Good Syndrome
Abnormal leukocyte morphology, Anemia, Thrombocytopenia, Diabetes mellitus ORPHA:169105
Hereditary Folate Malabsorption
Pancytopenia, Megaloblastic anemia, Thrombocytopenia, Eosinophilia ORPHA:90045
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Cardiomyopathy, Leukopenia, Thrombocytopenia, Hepatomegaly OMIM:251000
Combined Immunodeficiency Due To Crac Channel Dysfunction
Thrombocytopenia, Hepatomegaly, Hemolytic anemia, Splenomegaly ORPHA:169090
Tularemia
Anemia, Thrombocytopenia, Leukocytosis ORPHA:3392
Lig4 Syndrome
Pancytopenia, Thrombocytopenia OMIM:606593
Schimke Immunoosseous Dysplasia
Osteopenia, Thrombocytopenia, Neutropenia, Anemia, Lymphopenia, Abnormal T cell morphology OMIM:242900
Methylmalonic Aciduria, Cbla Type
Pancytopenia, Hepatomegaly, Neutropenia, Anemia, Thrombocytopenia OMIM:251100
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Eosinophilia, Decreased proportion of CD3-positive T cells, Hepatosplenomegaly, Autoimmune hemoly... ORPHA:331206
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked
Thrombocytopenia, Increased mean platelet volume OMIM:300048
Prolidase Deficiency
Anemia, Thrombocytopenia, Hepatomegaly, Splenomegaly OMIM:170100
Immunodeficiency 91 And Hyperinflammation
Hepatosplenomegaly, Monocytosis, Hemophagocytosis, Neutrophilia, Hepatomegaly, Thrombocytopenia OMIM:619644
Wilson Disease
Anemia, Thrombocytopenia, Hepatomegaly, Splenomegaly ORPHA:905
Eisenmenger Syndrome
Tetralogy of Fallot, Aortopulmonary window, Atrial septal defect, Bacterial endocarditis, Hepatom... ORPHA:97214
Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency
Neutropenia, Anemia, Thrombocytopenia OMIM:614520
Von Willebrand Disease, Type 3
Thrombocytopenia, Impaired platelet aggregation OMIM:277480
Hemophagocytic Lymphohistiocytosis, Familial, 1
Leukopenia, Hemophagocytosis, Splenomegaly, Hepatomegaly, Anemia, Hypertriglyceridemia, Thrombocy... OMIM:267700
Relapsing Fever
Leukopenia, Leukocytosis, Neutrophilia, Anemia, Thrombocytopenia ORPHA:91547
Thrombotic Thrombocytopenic Purpura, Hereditary
Reticulocytosis, Microangiopathic hemolytic anemia, Schistocytosis, Thrombocytopenia OMIM:274150
Familial Hemophagocytic Lymphohistiocytosis
Hemophagocytosis, Splenomegaly, Hepatomegaly, Neutropenia, Anemia, Hypertriglyceridemia, Thromboc... ORPHA:540
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin
Persistence of hemoglobin F, Atrial septal defect, Ventricular septal defect OMIM:619769
Pearson Marrow-Pancreas Syndrome
Pancytopenia, Refractory sideroblastic anemia, Sideroblastic anemia, Hypoplastic anemia, Hepatome... OMIM:557000
Blue Rubber Bleb Nevus
Iron deficiency anemia, Thrombocytopenia OMIM:112200
Hemophagocytic Lymphohistiocytosis, Familial, 2
Pancytopenia, Leukopenia, Hepatosplenomegaly, Hemophagocytosis, Splenomegaly, Hepatomegaly, Anemi... OMIM:603553
Smith-Kingsmore Syndrome
Hypoglycemia, Thrombocytopenia OMIM:616638
Glycogen Storage Disease Ixc
Fasting hypoglycemia, Hypoglycemia, Splenomegaly, Hepatomegaly, Hypertriglyceridemia OMIM:613027
Ornithine Transcarbamylase Deficiency
Hypoglycemia, Splenomegaly ORPHA:664
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Hypoglycemia, Thrombocytopenia, Hepatomegaly, Splenomegaly OMIM:251880
Griscelli Syndrome
Leukopenia, Splenomegaly, Hepatomegaly, Abnormality of neutrophils, Thrombocytopenia ORPHA:381
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis
Leukocytosis, Thrombocytopenia ORPHA:83601
Hepatoportal Sclerosis
Leukopenia, Splenomegaly, Anemia, Hypersplenism, Thrombocytopenia ORPHA:64743
Pancreatic And Cerebellar Agenesis
Hypoglycemia, Anemia, Diabetes mellitus, Secundum atrial septal defect, Hyperglycemia OMIM:609069
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 1
Amegakaryocytic thrombocytopenia, Congenital thrombocytopenia, Aplastic anemia OMIM:605432
Chediak-Higashi Syndrome
Leukopenia, Giant neutrophil granules, Hemophagocytosis, Splenomegaly, Hepatomegaly, Neutropenia,... OMIM:214500
Attrv122I Amyloidosis
Cardiac amyloidosis, Hypertrophic cardiomyopathy, Anemia, Restrictive cardiomyopathy, Cardiomegal... ORPHA:85451
Mirage Syndrome
Hypoplastic spleen, Hypoglycemia, Leukopenia, Radial club hand, Anemia, Lymphopenia, Thrombocytop... OMIM:617053
Shwachman-Diamond Syndrome 2
Normocytic anemia, Hepatomegaly, Neutropenia, Thrombocytopenia, Steatorrhea OMIM:617941
Dyskeratosis Congenita, Autosomal Dominant 1
Osteoporosis, Thrombocytopenia, Anemia, Aplastic anemia, Lymphopenia OMIM:127550
Fanconi Anemia, Complementation Group E
Pancytopenia, Leukemia, Neutropenia, Anemia, Abnormal heart morphology, Reticulocytopenia, Thromb... OMIM:600901
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome
Thrombocytopenia, Hypochromic microcytic anemia ORPHA:3240
Neurodevelopmental Disorder With Hearing Loss, Seizures, And Brain Abnormalities
Thrombocytopenia OMIM:616577
Microcephaly, Epilepsy, And Diabetes Syndrome 2
Elevated hemoglobin A1c, Diabetes mellitus OMIM:619278
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16
Microcytic anemia, HbH hemoglobin ORPHA:98791
Diffuse Alveolar Hemorrhage
Anemia, Thrombocytopenia, Leukocytosis ORPHA:90060
Dengue Fever
Leukopenia, Thrombocytopenia, Hepatomegaly ORPHA:99828
Fanconi Anemia, Complementation Group A
Pancytopenia, Leukemia, Neutropenia, Anemia, Abnormal heart morphology, Reticulocytopenia, Thromb... OMIM:227650
X-Linked Agammaglobulinemia
Neutropenia, Anemia, Thrombocytopenia ORPHA:47
Immunodeficiency, Common Variable, 8, With Autoimmunity
Pancytopenia, Chronic neutropenia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Sple... OMIM:614700
Acyl-Coa Dehydrogenase 9 Deficiency
Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Thrombocytopenia, Nonketotic hypoglycemia ORPHA:99901
Hermansky-Pudlak Syndrome 5
Thrombocytopenia OMIM:614074
Acute Promyelocytic Leukemia
Pancytopenia, Leukopenia, Leukocytosis, Neutropenia, Anemia, Thrombocytopenia ORPHA:520
Vexas Syndrome
Thrombocytopenia, Macrocytic anemia OMIM:301054
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Pancytopenia, T lymphocytopenia, Decreased proportion of memory B cells, Hepatosplenomegaly, Abno... ORPHA:79124
Overlap Myositis
Abnormal heart morphology, Leukopenia, Thrombocytopenia, Diabetes mellitus ORPHA:206572
Acquired Methemoglobinemia
Methemoglobinemia ORPHA:464453
Congenital Disorder Of Glycosylation, Type Iil
Pancytopenia, Atrial septal defect, Splenomegaly, Hepatomegaly, Ventricular septal defect, Thromb... OMIM:614576
Mody
Glycosuria, Neonatal hypoglycemia, Insulin-resistant diabetes mellitus, Elevated hemoglobin A1c, ... ORPHA:552
Immunodeficiency With Hyper-Igm, Type 1
Splenomegaly, Hepatomegaly, Neutropenia, Hemolytic anemia, Thrombocytopenia OMIM:308230
Hemochromatosis, Type 1
Osteoporosis, Splenomegaly, Hepatomegaly, Cardiomyopathy, Diabetes mellitus, Cardiomegaly, Glucos... OMIM:235200
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome
Leukopenia, Thrombocytopenia, Neutropenia, Anemia, B lymphocytopenia, Reticulocytopenia, Noncompa... ORPHA:508542
Kaposiform Lymphangiomatosis
Enlarged kidney, Hepatosplenomegaly, Splenomegaly, Abnormal spleen morphology, Anemia, Osteolysis... ORPHA:464329
Methylmalonic Aciduria And Homocystinuria, Cblf Type
Pancytopenia, Megaloblastic anemia, Neutropenia, Thrombocytopenia OMIM:277380
Mucopolysaccharidosis-Plus Syndrome
Enlarged kidney, Leukopenia, Atrial septal defect, Hypertrophic cardiomyopathy, Splenomegaly, Hep... OMIM:617303
Hereditary Methemoglobinemia
Methemoglobinemia ORPHA:621
Sickle Cell Anemia
Increased red cell sickling tendency, Leukocytosis, Splenomegaly, Hepatomegaly, Hemolytic anemia,... OMIM:603903
Holocarboxylase Synthetase Deficiency
Thrombocytopenia ORPHA:79242
Mevalonic Aciduria
Normocytic hypoplastic anemia, Hepatosplenomegaly, Leukocytosis, Fluctuating splenomegaly, Anemia... OMIM:610377
Dyskeratosis Congenita, Autosomal Dominant 3
Pancytopenia, Leukopenia, Osteoporosis, Aplastic anemia, Thrombocytopenia OMIM:613990
Catastrophic Antiphospholipid Syndrome
Abnormal heart valve morphology, Coombs-positive hemolytic anemia, Myocarditis, Microangiopathic ... ORPHA:464343
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Hypoglycemia, Fasting hypoglycemia, Hypercholesterolemia, Splenomegaly, Hepatomegaly, Osteoporosi... ORPHA:264580
Hoyeraal-Hreidarsson Syndrome
Abnormal leukocyte morphology, Anemia, Thrombocytopenia ORPHA:3322
Boutonneuse Fever
Leukopenia, Thrombocytopenia ORPHA:83313
Hermansky-Pudlak Syndrome 2
Impaired ADP-induced platelet aggregation, Hepatosplenomegaly, Decreased CD4:CD8 ratio, Absent pl... OMIM:608233
Pseudo-Torch Syndrome 1
Hepatomegaly, Thrombocytopenia, Patent foramen ovale, Splenomegaly OMIM:251290
Porphyria, Congenital Erythropoietic
Osteopenia, Splenomegaly, Hemolytic anemia, Osteolysis, Thrombocytopenia OMIM:263700
Thrombocytopenia 1
Intermittent thrombocytopenia, Congenital thrombocytopenia, Decreased mean platelet volume OMIM:313900
Alg8-Cdg
Anemia, Thrombocytopenia ORPHA:79325
Acquired Purpura Fulminans
Thrombocytopenia ORPHA:49566
Gaucher Disease, Perinatal Lethal
Hepatosplenomegaly, Splenomegaly, Hepatomegaly, Anemia, Cardiomegaly, Thrombocytopenia OMIM:608013
Fanconi Anemia, Complementation Group C
Pancytopenia, Leukemia, Neutropenia, Anemia, Ventricular septal defect, Reticulocytopenia, Thromb... OMIM:227645
Gaisböck Syndrome
Hypercholesterolemia, Increased hematocrit, Increased mean corpuscular hemoglobin concentration, ... ORPHA:90041
Pediatric Systemic Lupus Erythematosus
Leukopenia, Lymphopenia, Microangiopathic hemolytic anemia, Thrombocytopenia, Pericardial effusion ORPHA:93552
Schimke Immuno-Osseous Dysplasia
Hyperlipidemia, Abnormal proportion of naive CD4 T cells, Neutropenia, Anemia, Lymphopenia, Decre... ORPHA:1830
Pediatric-Onset Graves Disease
Craniosynostosis, Splenomegaly, Hepatomegaly, Neutropenia in presence of anti-neutropil antibodie... ORPHA:525731
Noonan Syndrome 4
Atrial septal defect, Hypertrophic cardiomyopathy, Pulmonic stenosis, Ventricular septal defect, ... OMIM:610733
Cyclic Neutropenia
Cyclic neutropenia, Lymphopenia, Thrombocytopenia, Decreased eosinophil count ORPHA:2686
Kasabach-Merritt Syndrome
Leukopenia, Neutropenia, Anemia, Reticulocytosis, Microangiopathic hemolytic anemia, Thrombocytop... ORPHA:2330
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked
Craniosynostosis, Leukopenia, Hepatomegaly, Double outlet right ventricle, Pulmonic stenosis, Ven... OMIM:301056
Snakebite Envenomation
Thrombocytopenia ORPHA:449285
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Generalized osteoporosis, Hepatosplenomegaly, Patent foramen ovale, Osteopenia, Autoimmune thromb... ORPHA:391487
Fanconi Anemia, Complementation Group F
Atrial septal defect, Anemia, Leukopenia, Thrombocytopenia OMIM:603467
Q Fever
Hepatosplenomegaly, Abnormal heart valve morphology, Endocarditis, Myocarditis, Splenomegaly, Hep... ORPHA:781
Benign Schwannoma
Abnormal cranial nerve morphology, Abnormality of the twelfth cranial nerve, Allodynia, Facial pa... ORPHA:252164
Chédiak-Higashi Syndrome
Pancytopenia, Hepatosplenomegaly, Abnormal platelet function, Vacuolated lymphocytes, Hemophagocy... ORPHA:167
Pseudo-Torch Syndrome 2
Thrombocytopenia, Hepatomegaly, Secundum atrial septal defect OMIM:617397
Thymoma
Imbalanced hemoglobin synthesis, Leukemia, Aplastic anemia, Pure red cell aplasia ORPHA:99867
Aicardi-Goutieres Syndrome 1
Cardiomyopathy, Thrombocytopenia, Hepatomegaly, Splenomegaly OMIM:225750
Lysinuric Protein Intolerance
Leukopenia, Hemophagocytosis, Splenomegaly, Hepatomegaly, Osteoporosis, Anemia, Thrombocytopenia OMIM:222700
Sepsis In Premature Infants
Leukocytosis, Splenomegaly, Hepatomegaly, Neutropenia, Anemia, Thrombocytopenia ORPHA:90051
Dyskeratosis Congenita, Autosomal Recessive 1
Thrombocytopenia, Osteoporosis, Aplastic anemia OMIM:224230
Congenital Erythropoietic Porphyria
Leukopenia, Osteopenia, Anisocytosis, Splenomegaly, Osteoporosis, Erythroid hyperplasia, Hemolyti... ORPHA:79277
Mogs-Cdg
Hepatosplenomegaly, Atrial septal defect, Hepatomegaly, Cardiomegaly, Left ventricular hypertroph... ORPHA:79330
Alpha-Thalassemia/Mental Retardation Syndrome, Chromosome 16-Related
Hypochromic microcytic anemia, Reduced alpha/beta synthesis ratio, HbH hemoglobin OMIM:141750
Shigellosis