Gene Summary

Name:
X-box binding protein 1
Synonyms:
TREB-5,  XBP-1,  D11Ertd39e,  TREB5

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
preweaning lethality, complete penetrance Xbp1tm1b(EUCOMM)Wtsi HOM   Early adult 0.00
increased bone mineral content Xbp1tm1a(EUCOMM)Wtsi HET Early adult 5.58×10-09
decreased lymphocyte cell number Xbp1tm1b(EUCOMM)Wtsi HET Early adult 7.74×10-05
persistence of hyaloid vascular system Xbp1tm1b(EUCOMM)Wtsi HET   Early adult 8.23×10-05
decreased large unstained cell number Xbp1tm1b(EUCOMM)Wtsi HET Early adult 1.27×10-05
decreased circulating triglyceride level Xbp1tm1a(EUCOMM)Wtsi HET Early adult 4.85×10-05
preweaning lethality, complete penetrance Xbp1tm1a(EUCOMM)Wtsi HOM   Early adult 0.00
increased grip strength Xbp1tm1a(EUCOMM)Wtsi HET Early adult 1.68×10-05
abnormal urination Xbp1tm1a(EUCOMM)Wtsi HET   Early adult 3.14×10-06
abnormal bone mineralization Xbp1tm1a(EUCOMM)Wtsi HET Early adult 9.47×10-05
increased mean corpuscular hemoglobin Xbp1tm1b(EUCOMM)Wtsi HET Early adult 4.89×10-05
decreased leukocyte cell number Xbp1tm1b(EUCOMM)Wtsi HET Early adult 6.93×10-07
thrombocytopenia Xbp1tm1a(EUCOMM)Wtsi HET Early adult 6.57×10-05
abnormal lens morphology Xbp1tm1a(EUCOMM)Wtsi HET   Early adult 1.27×10-05
vertebral fusion Xbp1tm1a(EUCOMM)Wtsi HET Early adult 3.68×10-21
increased total body fat amount Xbp1tm1a(EUCOMM)Wtsi HET Early adult 1.81×10-09
decreased T cell number Xbp1tm1a(EUCOMM)Wtsi HET Early adult 8.55×10-05
increased body weight Xbp1tm1a(EUCOMM)Wtsi HET Early adult 5.98×10-05
abnormal behavior Xbp1tm1a(EUCOMM)Wtsi HET Early adult 3.26×10-07
decreased red blood cell distribution width Xbp1tm1b(EUCOMM)Wtsi HET Early adult 8.91×10-06
increased mean corpuscular volume Xbp1tm1b(EUCOMM)Wtsi HET Early adult 1.50×10-08
abnormal vertebral arch morphology Xbp1tm1a(EUCOMM)Wtsi HET   Early adult 1.02×10-07
decreased circulating cholesterol level Xbp1tm1a(EUCOMM)Wtsi HET Early adult 4.17×10-07
cataract Xbp1tm1a(EUCOMM)Wtsi HET   Early adult 1.27×10-05
increased lean body mass Xbp1tm1a(EUCOMM)Wtsi HET Early adult 8.10×10-06

Download data as:  TSV  XLS

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Select physiological systems to view:
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  Wholemount images heterozygote Ambiguous
Adrenal gland N/A heterozygote 0.0% (0 of 2)
Aorta N/A heterozygote 0.0% (0 of 2)
Bone N/A heterozygote 0.0% (0 of 2)
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)
Esophagus N/A heterozygote 0.0% (0 of 2)
Eye N/A heterozygote 0.0% (0 of 2)
Gall bladder 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 0.0% (0 of 2)
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)
Olfactory lobe N/A heterozygote 0.0% (0 of 2)
Oral epithelium N/A heterozygote 0.0% (0 of 2)
Ovary N/A heterozygote 0.0% (0 of 2)
Oviduct N/A heterozygote 0.0% (0 of 2)
Pancreas N/A heterozygote 0.0% (0 of 2)
Parathyroid gland 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 0.0% (0 of 2)
Pituitary gland N/A heterozygote 0.0% (0 of 2)
Prostate gland N/A heterozygote 0.0% (0 of 2)
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 50% (1 of 2)
Striatum N/A heterozygote 0.0% (0 of 2)
Testis N/A heterozygote Not available
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)
Uterus N/A heterozygote 0.0% (0 of 2)
Vascular system N/A heterozygote 0.0% (0 of 2)
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 2)
Ear N/A heterozygote 0.0% (0 of 2)
Ear N/A homozygote 0.0% (0 of 2)
Embryo N/A heterozygote 0.0% (0 of 2)
Embryo N/A homozygote 0.0% (0 of 2)
Eye N/A heterozygote 0.0% (0 of 2)
Eye N/A homozygote 0.0% (0 of 2)
Footplate N/A heterozygote 0.0% (0 of 2)
Footplate N/A homozygote 0.0% (0 of 2)
Forebrain N/A heterozygote 0.0% (0 of 2)
Forebrain N/A homozygote 0.0% (0 of 2)
Forelimb N/A heterozygote 0.0% (0 of 2)
Forelimb N/A homozygote 0.0% (0 of 2)
Handplate N/A heterozygote 0.0% (0 of 2)
Handplate N/A homozygote 0.0% (0 of 2)
Head N/A heterozygote 0.0% (0 of 2)
Head N/A homozygote 0.0% (0 of 2)
Heart N/A heterozygote 0.0% (0 of 2)
Heart N/A homozygote 0.0% (0 of 2)
Hindbrain N/A heterozygote 0.0% (0 of 2)
Hindbrain N/A homozygote 0.0% (0 of 2)
Hindlimb N/A heterozygote 0.0% (0 of 2)
Hindlimb N/A homozygote 0.0% (0 of 2)
Liver N/A heterozygote 0.0% (0 of 2)
Liver N/A homozygote 0.0% (0 of 2)
Lung N/A heterozygote 0.0% (0 of 2)
Lung N/A homozygote 0.0% (0 of 2)
Mandibular process N/A heterozygote 0.0% (0 of 2)
Mandibular process N/A homozygote 0.0% (0 of 2)
Maxillary process N/A heterozygote 0.0% (0 of 2)
Maxillary process N/A homozygote 0.0% (0 of 2)
Midbrain N/A heterozygote 0.0% (0 of 2)
Midbrain N/A homozygote 0.0% (0 of 2)
Oral cavity N/A heterozygote 0.0% (0 of 2)
Oral cavity N/A homozygote 0.0% (0 of 2)
Skin N/A heterozygote 0.0% (0 of 2)
Skin N/A homozygote 0.0% (0 of 2)
Tail somite N/A heterozygote 0.0% (0 of 2)
Tail somite N/A homozygote 0.0% (0 of 2)
Tail N/A heterozygote 0.0% (0 of 2)
Tail N/A homozygote 0.0% (0 of 2)

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

Anatomy Background staining in controls (WT)
adrenal gland 0.77% (4 of 517)
aorta 0.19% (1 of 522)
bone 0.0%
brain 0.78% (4 of 512)
brainstem 0.4% (2 of 503)
brown adipose tissue 0.0%
cartilage tissue 0.19% (1 of 524)
cerebellum 0.57% (3 of 527)
cerebral cortex 0.2% (1 of 497)
esophagus 1.41% (5 of 354)
eye 0.0%
gall bladder 0.0%
heart 0.2% (1 of 510)
hippocampus 0.58% (3 of 516)
hypothalamus 0.2% (1 of 509)
kidney 3.02% (15 of 497)
large intestine 1.96% (10 of 511)
liver 0.0%
lower urinary tract 0.2% (1 of 502)
lung 0.39% (2 of 512)
lymph node 0.0%
mammary gland 0.0%
olfactory lobe 0.2% (1 of 512)
oral epithelium 0.0%
ovary 0.19% (1 of 523)
oviduct 0.0%
pancreas 0.96% (5 of 520)
parathyroid gland 0.21% (1 of 480)
peripheral nervous system 0.4% (2 of 505)
peyers patch 0.0%
pituitary gland 0.2% (1 of 508)
prostate gland 2.14% (11 of 515)
skeletal muscle 0.0%
skin 0.19% (1 of 513)
small intestine 1.37% (7 of 511)
spinal cord 0.58% (3 of 518)
spleen 0.59% (3 of 511)
stomach 2.51% (13 of 517)
striatum 0.39% (2 of 510)
testis 0.98% (5 of 511)
thymus 0.19% (1 of 513)
thyroid gland 3.08% (16 of 519)
trachea 0.59% (3 of 510)
uterus 0.0%
vascular system 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 1.5% (6 of 400)
ear 0.26% (1 of 392)
embryo 0.0%
eye 0.26% (1 of 392)
footplate 0.25% (1 of 397)
forebrain 0.0%
forelimb 0.25% (1 of 399)
handplate 0.25% (1 of 404)
head 1.04% (4 of 383)
heart 0.25% (1 of 403)
hindbrain 1.22% (5 of 410)
hindlimb 0.0%
liver 0.0%
lung 0.26% (1 of 389)
mandibular process 0.26% (1 of 391)
maxillary process 0.0%
midbrain 0.25% (1 of 401)
oral cavity 0.24% (1 of 415)
skin 0.25% (1 of 396)
tail 0.0%
tail somite group 0.25% (1 of 401)

Associated Images

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

Embryo LacZ

LacZ images wholemount

8 Images

X-ray

XRay Images Forepaw

12 Images

X-ray

XRay Images Whole Body Lateral Orientation

25 Images

X-ray

XRay Images Whole Body Dorso Ventral

26 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

24 Images

Echo

M-Mode Images

32 Images

X-ray

XRay Images Skull Lateral Orientation

13 Images

Adult LacZ

LacZ Images Wholemount

1 Images

Auditory Brain Stem Response

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

4 Images

Human diseases caused by Xbp1 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 Xbp1 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, 2, Pyridoxine-Refractory
Decreased mean corpuscular volume, Anemia, Hypochromia OMIM:205950
Immunodeficiency 40
Lymphopenia OMIM:616433
Anemia, Hypochromic Microcytic, With Iron Overload 1
Decreased mean corpuscular volume, Anemia, Hypochromia OMIM:206100
Anemia, Sideroblastic, Pyridoxine-Responsive, Autosomal Recessive
Sideroblastic anemia, Hepatosplenomegaly, Pyridoxine-responsive sideroblastic anemia, Decreased m... OMIM:206000
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Splenomegaly, Hepatomegaly, Persistence of hemoglobin F, Anemia, Pallor ORPHA:46532
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1
Acute myeloid leukemia, Increased mean corpuscular volume, Thrombocytopenia OMIM:252270
Methemoglobin Reductase Deficiency
Abnormal erythrocyte morphology OMIM:250700
Atr-16 syndrome
Abnormal erythrocyte morphology DECIPHER:65
Immunodeficiency 8
Lymphopenia OMIM:615401
Hemoglobin-Delta locus
Anemia, Imbalanced hemoglobin synthesis OMIM:142000
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
Diamond-Blackfan Anemia 3
Elevated red cell adenosine deaminase level, Increased mean corpuscular volume, Macrocytic anemia... OMIM:610629
Immunodeficiency 18
Decreased proportion of CD3-positive T cells, Lymphopenia OMIM:615615
Thalassemia, Beta+, Silent Allele
Reduced beta/alpha synthesis ratio OMIM:187550
Fetal Hemoglobin Quantitative Trait Locus 1
Persistence of hemoglobin F OMIM:141749
Anemia, Congenital Dyserythropoietic, Type Ib
Reticulocytosis, Splenomegaly, Hepatomegaly, Growth delay, Jaundice, Anisocytosis, Anemia, Short ... OMIM:615631
Anemia, Hypochromic Microcytic, With Iron Overload 2
Poikilocytosis, Splenomegaly, Hepatomegaly, Growth delay, Anemia, Pallor, Decreased mean corpuscu... OMIM:615234
Intrinsic Factor Deficiency
Megaloblastic erythroid hyperplasia, Megaloblastic anemia, Increased mean corpuscular volume OMIM:261000
Bone Marrow Failure Syndrome 6
Neutropenia, Anemia, Increased mean corpuscular volume, Persistence of hemoglobin F, Lymphopenia OMIM:618849
Diamond-Blackfan Anemia 8
Neutropenia, Increased mean corpuscular volume, Macrocytic anemia OMIM:612563
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin
Anemia of inadequate production, Oval macrocytosis, Anisocytosis, Poikilocytosis OMIM:603529
Dehydrated Hereditary Stomatocytosis 2
Increased mean corpuscular hemoglobin concentration, Splenomegaly, Acanthocytosis, Hemolytic anem... OMIM:616689
Hemoglobin H Disease
Reduced alpha/beta synthesis ratio, Splenomegaly, Hemolytic anemia, HbH hemoglobin OMIM:613978
Fetal Cytomegalovirus Syndrome
Anemia, Splenomegaly, Hepatomegaly ORPHA:294
Acetophenetidin Sensitivity
Methemoglobinemia, Hemolytic anemia OMIM:200300
Hemoglobin E Disease
Splenomegaly, Increased red blood cell count, Abnormal hemoglobin, Anemia of inadequate productio... ORPHA:2133
Delta-Beta-Thalassemia
Microcytic anemia, Anemia, Abnormal hemoglobin ORPHA:231237
Immunodeficiency 19
Lymphopenia OMIM:615617
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Abnormal hemoglobin, Anemia, Splenomegaly, Thrombocytopenia ORPHA:231393
Hemoglobin C-Beta-Thalassemia Syndrome
Microcytic anemia, Anemia, Splenomegaly, Abnormal hemoglobin ORPHA:231242
Beta-Thalassemia, Dominant Inclusion Body Type
Microcytic anemia, Erythrocyte inclusion bodies, Decreased mean corpuscular hemoglobin concentrat... OMIM:603902
Methemoglobinemia, Beta Type
Methemoglobinemia OMIM:617971
Methemoglobinemia, Alpha Type
Methemoglobinemia OMIM:617973
Anemia, Sideroblastic, 4
Sideroblastic anemia, Abnormal erythrocyte morphology OMIM:182170
Sickle Cell Anemia
Microcytic anemia, Hypochromic anemia, Reticulocytosis, Leukocytosis, Thrombocytosis, Iron defici... ORPHA:232
Danon Disease
Dilated cardiomyopathy, Generalized amyotrophy, Hypertrophic cardiomyopathy, EMG: myopathic abnor... OMIM:300257
Overhydrated Hereditary Stomatocytosis
Decreased mean corpuscular hemoglobin concentration, Splenomegaly, Anisocytosis, Abnormal mean co... ORPHA:3203
Oslam Syndrome
Abnormality of neutrophils, Increased mean corpuscular volume ORPHA:2760
Thrombocytopenia With Congenital Dyserythropoietic Anemia
Hypochromic anemia, Macrothrombocytopenia, Anisocytosis, Anemia of inadequate production, Poikilo... ORPHA:67044
Myelolymphatic Insufficiency
Leukopenia, Hyposegmentation of neutrophil nuclei OMIM:310350
Pancytopenia And Occlusive Vascular Disease
Pancytopenia, Anemia, Leukopenia, Thrombocytopenia OMIM:167850
Familial Pseudohyperkalemia
Reticulocytosis, Episodic hemolytic anemia, Increased mean corpuscular volume, Stomatocytosis ORPHA:90044
Diamond-Blackfan Anemia 18
Neutropenia, Erythroid hypoplasia, Steroid-responsive anemia OMIM:618310
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality
Leukopenia, Thrombocytosis, Acute myeloid leukemia, Anisocytosis, Abnormality of neutrophil morph... ORPHA:86841
Iron-Refractory Iron Deficiency Anemia
Anisocytosis, Poikilocytosis, Hypochromic microcytic anemia OMIM:206200
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Abnormal reticulocyte morphology, Macrocytic anemia, Increased hemoglobin, Anisocytosis, Neutrope... OMIM:300835
Diamond-Blackfan Anemia 19
Anemia, Erythroid hypoplasia, Steroid-responsive anemia OMIM:618312
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Splenomegaly, Anisocytosis, Reduced red cell pyruvate kinase level, Anemia, Chronic hemolytic ane... ORPHA:766
Anemia, Congenital Dyserythropoietic, Type Ia
Poikilocytosis, Splenomegaly, Anisocytosis, Erythroid hyperplasia, Reticulocytosis, Anemia of ina... OMIM:224120
Congenital Amegakaryocytic Thrombocytopenia
Abnormal hemoglobin, Anemia, Thrombocytopenia ORPHA:3319
X-Linked Sideroblastic Anemia
Pallor, Anemia, Splenomegaly, Elevated hepatic transaminase ORPHA:75563
Alpha-Thalassemia Myelodysplasia Syndrome
Hypochromic microcytic anemia, Reduced alpha/beta synthesis ratio, HbH hemoglobin OMIM:300448
Severe Combined Immunodeficiency Due To Foxn1 Deficiency
T lymphocytopenia ORPHA:169095
Lymphoid System Deterioration, Progressive
Lymphopenia, Abnormal T cell morphology OMIM:247630
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis
Autoimmune hemolytic anemia, Lymphopenia, Plasmacytosis OMIM:247800
Dehydrated Hereditary Stomatocytosis
Schistocytosis, Reticulocytosis, Macrocytic anemia, Increased mean corpuscular hemoglobin concent... ORPHA:3202
Congenital Dyserythropoietic Anemia Type Iii
Anisocytosis, Anemia, Increased mean corpuscular volume, Abnormal erythrocyte morphology, Poikilo... ORPHA:98870
Immunodeficiency 50
Neutropenia, Lymphopenia OMIM:300988
Retinohepatoendocrinologic Syndrome
Pallor, Degenerative liver disease OMIM:268040
Immunodeficiency 24
Reduced proportion of mucosal-associated invariant T cells, Decreased CD4:CD8 ratio, Decreased pr... OMIM:615897
Autoimmune Hemolytic Anemia, Cold Type
Pallor, Splenomegaly, Abnormal leukocyte morphology, Hemolytic anemia ORPHA:228312
Acute Erythroid Leukemia
Pancytopenia, Anemia, Leukopenia, Erythroid hypoplasia ORPHA:318
Acquired Idiopathic Sideroblastic Anemia
Pancytopenia, Hypochromic anemia, Leukocytosis, Granulocytopenia, Normocytic anemia, Megaloblasti... ORPHA:75564
Retinitis Pigmentosa 42
Pallor OMIM:612943
Beta-Thalassemia
Cholelithiasis, Microcytic anemia, Abnormal hemoglobin, Splenomegaly, Hepatomegaly, Anemia, Hepat... ORPHA:848
Elliptocytosis 3
Decreased mean corpuscular volume, Pyropoikilocytosis, Chronic hemolytic anemia, Elliptocytosis OMIM:617948
Neurodevelopmental Disorder With Epilepsy, Cataracts, Feeding Difficulties, And Delayed Brain Myelination
Failure to thrive, Cataract, Flexion contracture, Scoliosis OMIM:617393
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Osteopenia, Splenomegaly, Anemia, Bone pain, Hypocholesterolemia, Hypersplenism, Thrombocytopenia OMIM:610539
Transient Erythroblastopenia Of Childhood
Transient erythroblastopenia, Anemia OMIM:227050
Reticular Dysgenesis
Hypoplasia of the thymus, Congenital agranulocytosis, Leukopenia, Lymphopenia OMIM:267500
T-Cell Immunodeficiency, Recurrent Infections, And Autoimmunity With Or Without Cardiac Malformations
Neutropenia, Lymphopenia OMIM:614868
Retinitis Pigmentosa 81
Pallor OMIM:617871
Cyanosis, Transient Neonatal
Reticulocytosis, Anemia, Methemoglobinemia OMIM:613977
Left Ventricular Noncompaction 7
Left ventricular noncompaction cardiomyopathy, Left ventricular noncompaction OMIM:615092
Cernunnos-Xlf Deficiency
T lymphocytopenia, Thrombocytopenia, Anemia, B lymphocytopenia, Lymphopenia ORPHA:169079
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency
Pancytopenia, Megaloblastic anemia, Hepatomegaly, Jaundice, Pallor, Thrombocytopenia OMIM:613839
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Hypoplasia of the thymus, Lymphopenia OMIM:200900
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Leukopenia, Splenomegaly, Neutropenia, Anemia, Thrombocytopenia, Extramedullary hematopoiesis OMIM:615285
Elliptocytosis 1
Splenomegaly, Jaundice, Hemolytic anemia, Elliptocytosis, Pallor OMIM:611804
Reticuloendotheliosis, X-Linked
Anemia, Hepatosplenomegaly, Jaundice OMIM:312500
Bone Marrow Failure Syndrome 2
Anemia, Leukopenia, Thrombocytopenia OMIM:615715
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Cholelithiasis, Reticulocytosis, Exercise-induced hemolysis, Splenomegaly, Hepatomegaly, Jaundice... OMIM:194380
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Splenomegaly, Hemolytic anemia, Lymphop... ORPHA:444463
Retinitis Pigmentosa And Erythrocytic Microcytosis
Retinal pigment epithelial atrophy, Anisocytosis, Retinal atrophy, Anemia, Optic disc pallor, Ell... OMIM:616959
Alpha-Thalassemia-Myelodysplastic Syndrome
Microcytic anemia, Splenomegaly, HbH hemoglobin, Neutropenia, Acute leukemia, Thrombocytopenia ORPHA:231401
Cataract, Microcephaly, Failure To Thrive, Kyphoscoliosis Syndrome
Small for gestational age, Cataract, Failure to thrive, Arthrogryposis multiplex congenita, Kypho... OMIM:212540
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Hepatosplenomegaly, Anisocytosis, Splenomegaly, Anemia, Erythroid hyperplasia, Decreased mean cor... OMIM:616860
Forsythe-Wakeling Syndrome
Decreased body weight, Nephrotic syndrome, Osteoporosis, Delayed skeletal maturation, Thrombocyto... OMIM:613606
Diamond-Blackfan Anemia 6
Persistence of hemoglobin F, Increased mean corpuscular volume, Macrocytic anemia OMIM:612561
Primary Myelofibrosis
Pancytopenia, Increased circulating lactate dehydrogenase concentration, Petechiae, Hepatosplenom... ORPHA:824
Leishmaniasis
Pancytopenia, Abnormal macrophage morphology, Leukopenia, Splenomegaly, Hepatomegaly, Anemia, Ele... ORPHA:507
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes
T lymphocytopenia OMIM:242870
Retinitis Pigmentosa 60
Pallor OMIM:613983
Mental Retardation, Truncal Obesity, Retinal Dystrophy, And Micropenis Syndrome
Micropenis, Cataract, Childhood-onset truncal obesity, Truncal obesity OMIM:610156
Spondylocostal Dysostosis 1, Autosomal Recessive
Block vertebrae, Short neck, Back pain, Vertebral fusion, Abnormality of the odontoid process, Ky... OMIM:277300
Acute Myelomonocytic Leukemia
Eosinophilia, Leukocytosis, Anemia, Pallor, Thrombocytopenia ORPHA:517
Hb Bart'S Hydrops Fetalis
Abnormal hemoglobin, Splenomegaly, Hepatomegaly, Anemia, Pallor ORPHA:163596
Alpha-Thalassemia
Microcytic anemia, Splenomegaly, Anemia, Hemolytic anemia, Abnormal hemoglobin, Hypersplenism ORPHA:846
Majeed Syndrome
Microcytic anemia, Hepatosplenomegaly, Erythroid hyperplasia, Decreased mean corpuscular volume, ... OMIM:609628
Left Ventricular Noncompaction 10
Dilated cardiomyopathy, Left ventricular noncompaction OMIM:615396
Hereditary Spherocytosis
Cholelithiasis, Reticulocytosis, Increased mean corpuscular hemoglobin concentration, Hepatomegal... ORPHA:822
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Fava bean-induced hemolytic anemia, Leukocytosis, Anisocytosis, Splenomegaly, Heinz bodies, Retic... OMIM:300908
Microcephaly, Congenital Cataract, And Psoriasiform Dermatitis
Developmental cataract, Decreased HDL cholesterol concentration, Failure to thrive, Hypocholester... OMIM:616834
Alpha-Thalassemia
Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia OMIM:604131
Beta-Thalassemia
Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia OMIM:613985
Combined Cellular And Humoral Immune Defects With Granulomas
T lymphocytopenia, B lymphocytopenia OMIM:233650
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction
Dilated cardiomyopathy, Left ventricular noncompaction, Left ventricular hypertrophy, Endocardial... OMIM:601493
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts
Hepatosplenomegaly, Growth delay, Anemia, Elevated hepatic iron concentration, Elevated hepatic t... ORPHA:300298
Microcephaly With Cervical Spine Fusion Anomalies
Vertebral fusion, Spinal instability OMIM:251250
Hyperbilirubinemia, Shunt, Primary
Splenomegaly, Hepatomegaly, Jaundice, Erythroid hyperplasia, Reticulocytosis, Anemia of inadequat... OMIM:237800
Beta-Thalassemia Intermedia
Cholelithiasis, Abnormality of the liver, Hepatosplenomegaly, Pallor, Leukocytosis, Anemia of ina... ORPHA:231222
Breath-Holding Spells
Pallor, Iron deficiency anemia OMIM:607578
Erythroleukemia, Familial, Susceptibility To
Leukemia, Acute myeloid leukemia, Splenomegaly, Hepatomegaly, Anemia, Erythroid hyperplasia, Thro... OMIM:133180
Immunodeficiency 52
Coombs-positive hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Increased proportion... OMIM:617514
Immunodeficiency 21
Neutropenia, Abnormal natural killer cell morphology, Myeloid leukemia, Aplastic anemia, Monocyto... OMIM:614172
Aldh18A1-Related De Barsy Syndrome
Cataract, Joint hyperflexibility ORPHA:35664
Cardiomyopathy, Dilated, 1R
Dilated cardiomyopathy, Left ventricular noncompaction, Left ventricular hypertrophy, Restrictive... OMIM:613424
Anemia, Congenital Dyserythropoietic, Type Iv
Schistocytosis, Reticulocytosis, Circulating nucleated red blood cells, Hepatosplenomegaly, Poiki... OMIM:613673
Keratoconus Posticus Circumscriptus
Short neck, Central posterior corneal opacity, Limited elbow extension and supination, Keratoconu... OMIM:244600
Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome
Radioulnar synostosis, Amegakaryocytic thrombocytopenia ORPHA:71289
Evans Syndrome
Petechiae, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Jaundice, Neutropenia in pre... ORPHA:1959
Refractory Anemia With Excess Blasts
Leukocytosis, Retinal hemorrhage, Acute myeloid leukemia, Abnormal mean corpuscular volume, Anemi... ORPHA:86839
Kniest Dysplasia
Coronal cleft vertebrae, Abnormal joint morphology, Delayed patellar ossification, Lens luxation,... ORPHA:485
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1
Microcytic anemia, Hypochromic anemia, Sideroblastic anemia, Pappenheimer bodies, Erythroid hyper... OMIM:600462
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Pancytopenia, Decreased helper T cell proportion, Hypersplenism, Splenomegaly OMIM:183350
Cold Agglutinin Disease
Pallor, Splenomegaly, Hepatomegaly, Hemolytic anemia ORPHA:56425
Optic Atrophy 9
Pallor OMIM:616289
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia
Reticulocytosis, Hepatosplenomegaly, Short stature, Hemolytic anemia, Pallor, Decreased mean corp... OMIM:611590
Methylcobalamin Deficiency Type Cble
Pancytopenia, Increased mean corpuscular volume, Neutropenia, Macrocytic anemia ORPHA:2169
Congenital Disorder Of Glycosylation, Type Iik
Amelogenesis imperfecta, Joint laxity, Osteoporosis, Elevated circulating creatine kinase concent... OMIM:614727
Prader-Willi Habitus, Osteopenia, And Camptodactyly
Osteopenia, Obesity, Osteoporosis, Camptodactyly, Joint contracture of the hand OMIM:264010
Bardet-Biedl Syndrome 18
Cataract, Obesity, Renal insufficiency OMIM:615995
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A
Carpal synostosis, Craniosynostosis, Short neck, Elbow flexion contracture, Knee flexion contract... OMIM:178110
Vertebral Fusion, Posterior Lumbosacral, With Blepharoptosis
Posterior fusion of lumbosacral vertebrae OMIM:192800
Posterior Fusion Of Lumbosacral Vertebrae-Blepharoptosis Syndrome
Joint stiffness, Abnormal form of the vertebral bodies, Sacral dimple, Tarsal synostosis, Posteri... ORPHA:2064
Immunodeficiency 76
T lymphocytopenia, Lymphopenia, Splenomegaly, B lymphocytopenia OMIM:619164
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)
T lymphocytopenia DECIPHER:16
Methylmalonic Aciduria And Homocystinuria, Cbld Type
Megaloblastic anemia, Increased mean corpuscular volume OMIM:277410
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant
T lymphocytopenia, Abnormally low T cell receptor excision circle level OMIM:618806
Thrombocytopenia 2
Leukocytosis, Thrombocytopenia OMIM:188000
Thanatophoric Dysplasia, Glasgow Variant
Neonatal death, Anemia, Hepatosplenomegaly OMIM:273680
T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy
Decreased helper T cell proportion, T lymphocytopenia OMIM:601705
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction
Dilated cardiomyopathy, Left ventricular noncompaction, Endocardial fibroelastosis, Cardiomyocyte... OMIM:612158
Intellectual Disability-Cataracts-Kyphosis Syndrome
Thoracic kyphosis, Cataract, Knee flexion contracture, Failure to thrive, Elbow flexion contractu... ORPHA:171860
Left Ventricular Noncompaction 1
Left ventricular noncompaction, Patent ductus arteriosus, Left ventricular noncompaction cardiomy... OMIM:604169
Methylmalonic Acidemia With Homocystinuria, Type Cbld
Pallor ORPHA:79283
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis
Advanced ossification of carpal bones, Coronal cleft vertebrae, Accelerated skeletal maturation, ... OMIM:618363
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1B
Flexion contracture, Short neck, Antecubital pterygium, Fused thoracic vertebrae, Scoliosis, Fuse... OMIM:618469
Multiple Synostoses Syndrome 2
Carpal synostosis, Finger symphalangism, Proximal symphalangism, Vertebral fusion, Humeroradial s... OMIM:610017
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To
Acute myeloid leukemia, Leukopenia, Refractory anemia, Monocytosis OMIM:616871
Peripheral Cone Dystrophy
Pallor OMIM:609021
Myalgia-Eosinophilia Syndrome Associated With Tryptophan
Eosinophilia, Lymphopenia ORPHA:2582
Klippel-Feil Syndrome 3, Autosomal Dominant
Thoracic scoliosis, Cervical C5/C6 vertebrae fusion, Cervical C3/C4 vertebral fusion, Iris coloboma OMIM:613702
Spondylocostal Dysostosis 4, Autosomal Recessive
Block vertebrae, Vertebral fusion, Abnormality of the odontoid process, Spina bifida occulta, Ver... OMIM:613686
3-Methylglutaconic Aciduria Type 4
Cataract, 3-Methylglutaconic aciduria, Failure to thrive, Iris hypopigmentation, Thrombocytopenia ORPHA:67048
Diamond-Blackfan Anemia 7
Neutropenia, Increased mean corpuscular volume, Macrocytic anemia OMIM:612562
Cone-Rod Dystrophy 11
Pallor OMIM:610381
Shwachman-Diamond Syndrome 1
Short stature, Myocardial necrosis OMIM:260400
Congenital Atransferrinemia
Anemia, Abnormality of the pancreas ORPHA:1195
Left Ventricular Noncompaction 8
Left ventricular noncompaction, Dilated cardiomyopathy, Abnormal left ventricle morphology OMIM:615373
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5
Achilles tendon contracture, Kyphosis, Hyperlordosis, Elevated circulating creatine kinase concen... OMIM:606612
Hemochromatosis, Type 2B
Splenomegaly, Hepatomegaly, Anemia, Elevated hepatic transaminase, Cirrhosis, Hepatic fibrosis OMIM:613313
Thrombocytopenic Purpura, Autoimmune
Thrombocytopenia OMIM:188030
Anemia, Congenital Dyserythropoietic, Type Ii
Cholelithiasis, Reduced level of N-acetylglucosaminyltransferase II, Splenomegaly, Jaundice, Reti... OMIM:224100
Gorlin Syndrome
Vertebral wedging, Cataract, Scoliosis, Vertebral fusion, Hemivertebrae, Iris coloboma ORPHA:377
X-Linked Intellectual Disability, Stocco Dos Santos Type
Cataract, Kyphosis, Congenital bilateral hip dislocation, Small for gestational age ORPHA:85288
Muscular Dystrophy, Congenital, With Cataracts And Intellectual Disability
Cataract, Hyperlordosis, Increased adipose tissue, Elevated circulating creatine kinase concentra... OMIM:617404
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia
Pancytopenia, Thrombocytosis, Megaloblastic anemia, Macrocytic anemia, Anemia of inadequate produ... OMIM:617780
Anemia, Sideroblastic, 5
Neutropenia, Anemia, Thrombocytopenia, Reduced hematocrit, Hypochromic microcytic anemia OMIM:619523
Letterer-Siwe Disease
Hepatosplenomegaly, Jaundice, Neutropenia, Anemia, Pallor, Thrombocytopenia OMIM:246400
Beta-Thalassemia Major
Hepatosplenomegaly, Pallor, Decreased mean corpuscular hemoglobin concentration, Hypersplenism, A... ORPHA:231214
Brachydactyly, Type B1
Hypoplastic sacrum, Micropenis, Thoracolumbar scoliosis, Vertebral fusion, Delayed cranial suture... OMIM:113000
Schimke Immunoosseous Dysplasia
Thoracic kyphosis, Osteopenia, Short neck, Ovoid vertebral bodies, Shallow acetabular fossae, Pro... OMIM:242900
Dextrocardia With Unusual Facies And Microphthalmia
Vertebral segmentation defect, Vertebral fusion OMIM:221950
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3
Unilateral renal agenesis, Sacral dimple, Ureteral atresia, Vertebral fusion, Vertebral segmentat... OMIM:618845
Dominant Beta-Thalassemia
Hepatosplenomegaly, Pallor, Decreased mean corpuscular hemoglobin concentration, Hypersplenism, C... ORPHA:231226
Immunodeficiency 13
T lymphocytopenia, Decreased CD4:CD8 ratio, Decreased proportion of CD4-positive helper T cells, ... OMIM:615518
Hypocalcemic Vitamin D-Resistant Rickets
Genu varum, Recurrent fractures, Abnormal form of the vertebral bodies, Nephrolithiasis, Abnormal... ORPHA:93160
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome
Pallor, Short stature ORPHA:2786
Bilateral Striopallidodentate Calcinosis
Corneal opacity, Thrombocytopenia ORPHA:1980
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type
Genu varum, Vertebral hypoplasia, Abnormal bone ossification, Iron deficiency anemia, Scoliosis, ... ORPHA:93315
Diamond-Blackfan Anemia 5
Reticulocytopenia, Leukopenia, Erythroid hypoplasia, Macrocytic anemia OMIM:612528
Niemann-Pick Disease, Type B
Splenomegaly, Anemia, Bone-marrow foam cells, Hypertriglyceridemia, Increased LDL cholesterol con... OMIM:607616
Thrombocytopenia 4
Thrombocytopenia OMIM:612004
Acute Peripheral Arterial Occlusion
Pallor, Leukocytosis ORPHA:90064
Retinitis Pigmentosa 70
Pallor OMIM:615922
Chylomicron Retention Disease
Hypotriglyceridemia, Failure to thrive, Hypoalbuminemia, Hypocholesterolemia, Steatorrhea, Decrea... OMIM:246700
Orotic Aciduria
Folate-unresponsive megaloblastic anemia, Hypochromia, Anisocytosis, Pyrimidine-responsive megalo... OMIM:258900
Transcobalamin Deficiency
Pancytopenia, Neutropenia, Lymphopenia, Thrombocytopenia ORPHA:859
Deafness, Autosomal Dominant 1, With Or Without Thrombocytopenia
Thrombocytopenia OMIM:124900
Diaphanospondylodysostosis
Abnormal vertebral segmentation and fusion, Absent or minimally ossified vertebral bodies, Short ... ORPHA:66637
Developmental And Epileptic Encephalopathy 73
Flexion contracture, Cataract, Inguinal hernia, Failure to thrive, Scoliosis, Delayed skeletal ma... OMIM:618379
Ehlers-Danlos Syndrome, Beasley-Cohen Type
Joint laxity, Cataract, Cigarette-paper scars, Inguinal hernia, Genu recurvatum, Hip dislocation OMIM:608763
Auditory Neuropathy And Optic Atrophy
Pallor OMIM:617717
Verheij Syndrome
Renal cyst, Short neck, Renal hypoplasia, Scoliosis, Vertebral fusion, Hemivertebrae, Hip disloca... OMIM:615583
Shwachman-Diamond Syndrome
Pancytopenia, Leukopenia, Normocytic anemia, Leukemia, Impaired neutrophil chemotaxis, Transient ... ORPHA:811
Atransferrinemia
Hypochromic anemia, Abnormality of the liver OMIM:209300
Hemophagocytic Lymphohistiocytosis, Familial, 4
Increased circulating ferritin concentration, Hemophagocytosis, Splenomegaly, Neutropenia, Anemia... OMIM:603552
Epidermodysplasia Verruciformis, Susceptibility To, 5
T lymphocytopenia, Lymphopenia OMIM:618309
Metatropic Dysplasia
Joint stiffness, Kyphosis, Abnormal enchondral ossification, Abnormal form of the vertebral bodie... ORPHA:2635
Peroxisome Biogenesis Disorder 3B
Hypocholesterolemia, Failure to thrive, Osteoporosis, Steatorrhea OMIM:266510
Cardiomyopathy, Dilated, 1D
Dilated cardiomyopathy, Left ventricular noncompaction, Left ventricular hypertrophy OMIM:601494
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive
T lymphocytopenia, Arthritis, Failure to thrive, B lymphocytopenia, Failure to thrive secondary t... OMIM:601457
Bleeding Disorder, Platelet-Type, 9
Thrombocytopenia OMIM:614200
Blackfan-Diamond Anemia
Leukopenia, Thrombocytosis, Erythroid hypoplasia, Acute myeloid leukemia, Elevated red cell adeno... ORPHA:124
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Eosinophilia, Hepatosplenomegaly, Decreased proportion of CD3-positive T cells, Autoimmune hemoly... ORPHA:331206
Thrombocytopenia, Cyclic
Neutropenia, Cyclic neutropenia, Thrombocytopenia OMIM:188020
Irida Syndrome
Pallor, Intrahepatic cholestasis ORPHA:209981
16Q24.3 Microdeletion Syndrome
Increased mean corpuscular volume, Optic nerve hypoplasia, Thrombocytopenia ORPHA:261250
Congenital Disorder Of Glycosylation, Type Ia
Renal cyst, Osteopenia, Flexion contracture, Kyphosis, Proteinuria, Thrombocytosis, Nephrotic syn... OMIM:212065
Hemophagocytic Lymphohistiocytosis, Familial, 3
Anemia, Hepatosplenomegaly, Granulocytopenia, Hemophagocytosis OMIM:608898
Autoinflammatory Syndrome, Familial, Behcet-Like 1
Hemolytic anemia, Lymphopenia, Thrombocytopenia OMIM:616744
Thiamine-Responsive Megaloblastic Anemia Syndrome
Pallor, Megaloblastic anemia, Short stature, Thrombocytopenia ORPHA:49827
Flynn-Aird Syndrome
Joint stiffness, Increased bone mineral density, Cataract, Increased bone density with cystic cha... OMIM:136300
Spondylocostal Dysostosis 5
Short neck, Low back pain, Scoliosis, Vertebral fusion, Butterfly vertebrae, Hemivertebrae OMIM:122600
Osteopetrosis, Autosomal Recessive 4
Petechiae, Hepatosplenomegaly, Splenomegaly, Hepatomegaly, Growth delay, Anemia, Reticulocytosis,... OMIM:611490
Squalene Synthase Deficiency
Increased circulating farnesol concentration, Elevated circulating methylsuccinic acid concentrat... OMIM:618156
Congenital Disorder Of Glycosylation, Type Iig
Vertebral segmentation defect, Osteopenia, Short neck, Failure to thrive in infancy, Hydronephros... OMIM:611209
Aarskog-Scott Syndrome
Short neck, Abnormality of the cervical spine, Inguinal hernia, Genu recurvatum, Umbilical hernia... ORPHA:915
Infantile Liver Failure Syndrome 1
Hepatic steatosis, Hepatomegaly, Acute hepatic failure, Anemia, Elevated hepatic transaminase, Ma... OMIM:615438
Deafness-Lymphedema-Leukemia Syndrome
Leukocytosis, Abnormal neutrophil count, Myeloproliferative disorder, Splenomegaly, Hepatomegaly,... ORPHA:3226
Benign Paroxysmal Torticollis Of Infancy
Pallor ORPHA:71518
Autoimmune Hemolytic Anemia, Warm Type
Autoimmune hemolytic anemia, Splenomegaly, Jaundice, Pallor, Chronic lymphatic leukemia ORPHA:90033
Bile Acid Synthesis Defect, Congenital, 1
Splenomegaly, Failure to thrive, Hyperbilirubinemia, Hypocholesterolemia, Rickets, Steatorrhea OMIM:607765
Hemochromatosis, Type 3
Neutropenia, Anemia, Elevated hepatic transaminase, Lymphopenia, Cirrhosis, Purpura OMIM:604250
Thumb Stiffness-Brachydactyly-Intellectual Disability Syndrome
Obesity, Joint stiffness ORPHA:1078
Dermatitis, Atopic
Pallor, Dry skin, Facial erythema OMIM:603165
Galactosemia Ii
Hypergalactosemia, Cataract, Galactosuria OMIM:230200
Combined Oxidative Phosphorylation Deficiency 31
Left ventricular noncompaction, Hypertrophic cardiomyopathy OMIM:617228
Rh Deficiency Syndrome
Macrocytic anemia, Hepatosplenomegaly, Anisocytosis, Spherocytosis, Hemolytic anemia, Stomatocyto... ORPHA:71275
Adenosine Triphosphate, Elevated, Of Erythrocytes
Reduced erythrocyte 2,3-diphosphoglycerate concentration, Polycythemia OMIM:102900
Kahrizi Syndrome
Thoracic kyphosis, Cataract, Knee flexion contracture, Elbow flexion contracture, Iris coloboma OMIM:612713
Isolated Klippel-Feil Syndrome
Cervical C2/C3 vertebral fusion, Abnormality of the vertebral column, Abnormal sacrum morphology,... ORPHA:2345
Preeclampsia/Eclampsia 1
Thrombocytopenia, Proteinuria OMIM:189800
Optic Atrophy 1
Pallor OMIM:165500
Fechtner syndrome
Developmental cataract, Leukocyte inclusion bodies, Hematuria, Proteinuria, Giant platelets, Neph... OMIM:153640
Autosomal Erythropoietic Protoporphyria
Cholelithiasis, Microcytic anemia, Erythema, Decreased liver function, Cirrhosis ORPHA:79278
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5
Achilles tendon contracture, Kyphosis, Hyperlordosis, Elevated circulating creatine kinase concen... OMIM:607155
Corneal Dystrophy, Groenouw Type I
Punctate corneal dystrophy, Granular corneal dystrophy, Nodular corneal dystrophy, Cataract OMIM:121900
Retinitis Pigmentosa 73
Pallor OMIM:616544
Macrosomia-Microphthalmia-Cleft Palate Syndrome
Large for gestational age, Microcornea, Corneal opacity ORPHA:2432
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Pallor, Diffuse pancreatic islet hyperplasia, Hepatomegaly, Focal pancreatic islet hyperplasia ORPHA:276575
Primary Familial Polycythemia
Abnormal hemoglobin, Polycythemia ORPHA:90042
Pearson Marrow-Pancreas Syndrome
Pancytopenia, Exocrine pancreatic insufficiency, Refractory sideroblastic anemia, Hepatic failure... OMIM:557000
Immunodeficiency 104
Failure to thrive secondary to recurrent infections, Splenomegaly, T lymphocytopenia OMIM:608971
Hyperinsulinism Due To Ucp2 Deficiency
Pallor, Hepatomegaly, Diffuse pancreatic islet hyperplasia ORPHA:276556
Autoimmune Hemolytic Anemia
Pallor, Splenomegaly, Abnormal leukocyte morphology, Hemolytic anemia ORPHA:98375
Combined Immunodeficiency Due To Partial Rag1 Deficiency
T lymphocytopenia, Autoimmune hemolytic anemia, Splenomegaly, Neutropenia in presence of anti-neu... ORPHA:231154
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome
Vaginal hernia, Kyphosis, Abnormal form of the vertebral bodies, Hypoplastic vertebral bodies, El... ORPHA:2916
Lysosomal Acid Lipase Deficiency
Low alkaline phosphatase, Increased circulating lactate dehydrogenase concentration, Hepatic fail... OMIM:278000
Retinitis Pigmentosa 27
Pallor OMIM:613750
Retinopathy, Pigmentary, And Mental Retardation
Joint hypermobility, Cataract, Scoliosis, Truncal obesity OMIM:268050
Congenital Toxoplasmosis
Intrauterine growth retardation, Hepatomegaly, Jaundice, Anemia, Elevated hepatic transaminase, T... ORPHA:858
Temple Syndrome
Flexion contracture, Small for gestational age, Hypercholesterolemia, Overweight, Joint hypermobi... OMIM:616222
Cerebrooculofacioskeletal Syndrome 1
Elbow flexion contracture, Cataract, Osteoporosis, Knee flexion contracture, Failure to thrive, A... OMIM:214150
Otopalatodigital Syndrome Type 1
Synostosis of carpal bones, Increased bone mineral density, Elbow dislocation, Abnormal vertebral... ORPHA:90650
Nephrotic Syndrome, Type 7
Nephrotic syndrome, Hemolytic-uremic syndrome, Proteinuria, Acute kidney injury, Glomerulonephrit... OMIM:615008
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase
Methemoglobinemia, Polycythemia OMIM:250800
Beemer Lethal Malformation Syndrome
Thrombocytopenia OMIM:209970
Immunodeficiency 31C
Autoimmune hemolytic anemia, Lymphopenia OMIM:614162
Sengers Syndrome
3-Methylglutaconic aciduria, Developmental cataract, Thrombocytopenia OMIM:212350
Thrombocytopenia 7
Impaired ADP-induced platelet aggregation, Impaired arachidonic acid-induced platelet aggregation... OMIM:619130
Kbg Syndrome
Thoracic kyphosis, Short neck, Persistent open anterior fontanelle, Scoliosis, Vertebral fusion, ... ORPHA:2332
Osteopetrosis, Autosomal Recessive 8
Splenomegaly, Anemia, Failure to thrive, Osteopetrosis, Thrombocytopenia OMIM:615085
Wilson Disease
Arthritis, Kayser-Fleischer ring, Pathologic fracture, Splenomegaly, Back pain, Anemia, Failure t... ORPHA:905
2Q24 Microdeletion Syndrome
Short neck, Small for gestational age, Cataract, Failure to thrive, Camptodactyly of finger, Abno... ORPHA:1617
Amoebiasis Due To Free-Living Amoebae
Facial palsy, Myocardial necrosis ORPHA:68
Potocki-Lupski Syndrome
Hypocholesterolemia, Failure to thrive, Small for gestational age, Scoliosis OMIM:610883
Systemic Mastocytosis With Associated Hematologic Neoplasm
Eosinophilia, Abnormal mast cell morphology, Leukocytosis, Normocytic anemia, Elevated total seru... ORPHA:98849
Wildervanck Syndrome
Short neck, Lens subluxation, Fused cervical vertebrae ORPHA:3456
Mitochondrial Complex Ii Deficiency, Nuclear Type 1
Dilated cardiomyopathy, Left ventricular noncompaction, Flexion contracture, Ragged-red muscle fi... OMIM:252011
Senior-Loken Syndrome 8
Pallor, Hepatic cysts, Pancreatic cysts OMIM:616307
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Pallor, Hepatomegaly, Diffuse pancreatic islet hyperplasia ORPHA:276580
Developmental And Speech Delay Due To Sox5 Deficiency
Thoracic kyphoscoliosis, Lumbar hyperlordosis, Scoliosis, Vertebral fusion, Butterfly vertebrae ORPHA:313892
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome
Cataract, Kyphosis, Cubitus valgus, Joint hyperflexibility ORPHA:1875
Lowe Oculocerebrorenal Syndrome
Developmental cataract, Proteinuria, Osteomalacia, Wrist swelling, Scoliosis, Elevated maternal s... OMIM:309000
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency
Pallor, Anemia, Hepatomegaly OMIM:246450
Multiple Pterygium Syndrome, X-Linked
Flexion contracture, Increased susceptibility to fractures, Joint dislocation, Abnormal cervical ... OMIM:312150
Osteomyelitis, Sterile Multifocal, With Periostitis And Pustulosis
Osteopenia, Periostitis, Failure to thrive in infancy, Neutrophilia, Splenomegaly, Elevated circu... OMIM:612852
Imerslund-Gräsbeck Syndrome
Pancytopenia, Hypersegmentation of neutrophil nuclei, Reticulocytosis, Megaloblastic anemia, Abno... ORPHA:35858
X-Linked Skeletal Dysplasia-Intellectual Disability Syndrome
Abnormal sacrum morphology, Scoliosis, Thoracic hemivertebrae, Fused cervical vertebrae ORPHA:1436
Malaria
Acute kidney injury, Elevated circulating C-reactive protein concentration, Anemia, Hyperbilirubi... ORPHA:673
Osteopetrosis, Autosomal Recessive 1
Pancytopenia, Craniosynostosis, Increased bone mineral density, Sandwich appearance of vertebral ... OMIM:259700
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome
Chorioretinal coloboma, Lymphopenia ORPHA:1116
Hypophosphatemic Rickets, X-Linked Recessive
Enlargement of the ankles, Nephrocalcinosis, Sparse bone trabeculae, Recurrent fractures, Enlarge... OMIM:300554
Drug-Induced Autoimmune Hemolytic Anemia
Pallor, Autoimmune hemolytic anemia, Splenomegaly ORPHA:90037
Proteasome-Associated Autoinflammatory Syndrome 3
Lipodystrophy, Flexion contracture, Arthritis, Splenomegaly, Thrombocytopenia, Anemia, Failure to... OMIM:617591
Spondylocarpotarsal Synostosis Syndrome
Vertebral segmentation defect, Carpal synostosis, Block vertebrae, Short neck, Renal cyst, Enamel... OMIM:272460
Hermansky-Pudlak Syndrome 9
Leukopenia, Thrombocytopenia OMIM:614171
Schimke Immuno-Osseous Dysplasia
Proteinuria, Anemia, Microscopic hematuria, Stage 5 chronic kidney disease, Lymphopenia, Thromboc... ORPHA:1830
Koolen-De Vries Syndrome
Vertebral segmentation defect, Kyphosis, Ureteral duplication, Hydronephrosis, Cataract, Scoliosi... ORPHA:96169
Ghosal Hematodiaphyseal Dysplasia
Leukopenia, Thrombocytopenia, Refractory anemia OMIM:231095
Atypical Hemolytic Uremic Syndrome
Hematuria, Proteinuria, Acute kidney injury, Microangiopathic hemolytic anemia, Thrombocytopenia ORPHA:2134
Dent Disease
Glycosuria, Proteinuria, Osteomalacia, Bone pain, Renal hypophosphatemia, Rickets, Nephrocalcinos... ORPHA:1652
Multiple Pterygium Syndrome, Lethal Type
Flexion contracture, Increased susceptibility to fractures, Joint dislocation, Abnormal cervical ... OMIM:253290
Morm Syndrome
Micropenis, Cataract, Truncal obesity ORPHA:75858
Erythrocytosis, Familial, 8
Cholelithiasis, Normocytic anemia, Cholecystitis, Splenomegaly, Jaundice, Nonspherocytic hemolyti... OMIM:222800
Idiopathic Pulmonary Hemosiderosis
Pallor, Iron deficiency anemia, Hepatosplenomegaly, Hepatomegaly ORPHA:99931
Transaldolase Deficiency
Hepatosplenomegaly, Anemia, Premature skin wrinkling, Cirrhosis, Thrombocytopenia ORPHA:101028
Immunodeficiency 69
Pancytopenia, Leukocytosis, Hepatosplenomegaly, Thrombocytosis, Splenomegaly, Anemia OMIM:618963
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Pancytopenia, Increased circulating ferritin concentration, Hepatosplenomegaly, Hemophagocytosis,... ORPHA:158057
Leber Congenital Amaurosis 14
Pallor OMIM:613341
Multiple Epiphyseal Dysplasia, Beighton Type
Knee pain, Thoracic scoliosis, Joint stiffness, Lumbar platyspondyly, Intervertebral space narrow... ORPHA:166011
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension
Thrombocytopenia OMIM:166990
Hypercholanemia, Familial 1
Failure to thrive, Increased serum bile acid concentration, Rickets, Steatorrhea OMIM:607748
Pseudopseudohypoparathyroidism
Short neck, Enamel hypoplasia, Cataract, Obesity, Osteoporosis OMIM:612463
Myelofibrosis
Pallor, Myeloproliferative disorder, Purpura, Splenomegaly OMIM:254450
Achondrogenesis Type 2
Delayed proximal femoral epiphyseal ossification, Delayed vertebral ossification, Cataract, Delay... ORPHA:93296
Phosphoglycerate Dehydrogenase Deficiency
Megaloblastic anemia, Developmental cataract, Thrombocytopenia OMIM:601815
Alpha-Heavy Chain Disease
Hepatomegaly, Anemia, Splenomegaly, Growth delay ORPHA:100025
Primary Lateral Sclerosis, Juvenile
Pallor OMIM:606353
Hyperinsulinism Due To Hnf1A Deficiency
Pallor, Hepatomegaly ORPHA:324575
Otopalatodigital Syndrome Type 2
Synostosis of carpal bones, Carpal synostosis, Increased bone mineral density, Developmental glau... ORPHA:90652
Rhizomelic Chondrodysplasia Punctata, Type 2
Osteopenia, Flexion contracture, Cataract, Failure to thrive, Scoliosis, Irregular vertebral endp... OMIM:222765
Hypophosphatemic Rickets With Hypercalciuria, Hereditary
Enlargement of the ankles, Sparse bone trabeculae, Recurrent fractures, Enlargement of the wrists... OMIM:241530
Gaucher Disease Type 1
Pancytopenia, Osteopenia, Increased bone mineral density, Leukopenia, Kyphosis, Vertebral compres... ORPHA:77259
Cardioneuromyopathy With Hyaline Masses And Nemaline Rods
Cervical vertebral bodies with decreased anteroposterior diameter, Widening of cervical spinal ca... OMIM:606842
Dent Disease 1
Glycosuria, Osteomalacia, Microscopic hematuria, Bone pain, Stage 5 chronic kidney disease, Ricke... OMIM:300009
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Pallor, Pancreatic islet-cell hyperplasia ORPHA:276608
Amegakaryocytic Thrombocytopenia, Congenital
Pancytopenia, Amegakaryocytic thrombocytopenia, Thrombocytopenia OMIM:604498
Protoporphyria, Erythropoietic, 1
Cholelithiasis, Erythema, Hepatic failure, Hemolytic anemia OMIM:177000
Obesity Due To Melanocortin 4 Receptor Deficiency
Obesity, Increased adipose tissue, Hypertriglyceridemia, Childhood-onset truncal obesity ORPHA:71529
Isolated Agammaglobulinemia
Abnormal lymphocyte morphology, Cellulitis, Recurrent cutaneous abscess formation, Abnormality of... ORPHA:229717
Mu-Heavy Chain Disease
Abnormal B cell count, Anemia, Splenomegaly, Hepatomegaly ORPHA:100024
Specific Granule Deficiency 2
Amelogenesis imperfecta, Osteopenia, Neutropenia, Anemia, Failure to thrive, Absent neutrophil sp... OMIM:617475
Hyperinsulinism Due To Hnf4A Deficiency
Increased hepatic glycogen content, Pancreatic islet-cell hyperplasia, Hepatomegaly, Elevated hep... ORPHA:263455
Preeclampsia
Elevated circulating creatinine concentration, Small for gestational age, Proteinuria, Acute kidn... ORPHA:275555
Microcephaly-Cervical Spine Fusion Anomalies Syndrome
Abnormality of the ureter, Kyphosis, Short neck, Hyperlordosis, Hypospadias, Fused cervical verte... ORPHA:2522
Epidermolysis Bullosa Simplex 7, With Nephropathy And Deafness
Reduced beta/alpha synthesis ratio OMIM:609057
Dermatosparaxis Ehlers-Danlos Syndrome
Hiatus hernia, Scarring, Osteopenia, Joint stiffness, Hernia, Osteoporosis, Joint dislocation, Fe... ORPHA:1901
Klippel-Feil Syndrome 2, Autosomal Recessive
Cervical C2/C3 vertebral fusion, Scoliosis, Short neck, Fused cervical vertebrae OMIM:214300
Mental Retardation, Skeletal Dysplasia, And Abducens Palsy
Thoracic hemivertebrae, Prominent metopic ridge, Fused cervical vertebrae, Scoliosis OMIM:309620
Morbid Obesity And Spermatogenic Failure
Hypercholesterolemia, Obesity, Hypertriglyceridemia, Increased LDL cholesterol concentration, Dec... OMIM:615703
Ring Chromosome 21 Syndrome
Fused thoracic vertebrae, Scoliosis, Thoracic hemivertebrae ORPHA:1445
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
T lymphocytopenia, Lymphopenia, B lymphocytopenia ORPHA:277
Wt Limb-Blood Syndrome
Pancytopenia, Leukemia, Hypoplastic anemia, Joint contracture of the 5th finger, Radioulnar synos... OMIM:194350
Bone Marrow Failure Syndrome 4
Anemia, Leukopenia, Thrombocytopenia OMIM:618116
Cardiomyopathy-Cataract-Hip Spine Disease Syndrome
Joint stiffness, Cataract, Avascular necrosis, Osteoarthritis, Platyspondyly, Abnormal interverte... ORPHA:1345
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Increased circulating ferritin concentration, Hepatosplenomegaly, Hemophagocytosis, Splenomegaly,... OMIM:613101
Ichthyosis-Intellectual Disability-Dwarfism-Renal Impairment Syndrome
Failure to thrive, Cataract, Aminoaciduria ORPHA:2278
Abetalipoproteinemia
Corneal ulceration, Osteopenia, Decreased LDL cholesterol concentration, Hypotriglyceridemia, Aca... ORPHA:14
Alkaptonuria
Limitation of knee mobility, Elevated urinary homogentisic acid, Kyphosis, Nephrolithiasis, Inter... OMIM:203500
Stormorken-Sjaastad-Langslet Syndrome
Anemia, Short stature, Purpura, Asplenia ORPHA:3204
Baralle-Macken Syndrome
Urinary incontinence, Cataract, Obesity, Kyphosis OMIM:619255
Adult Idiopathic Neutropenia
Neutropenia, Monocytosis, Lymphopenia, Monocytopenia ORPHA:2688
Alpha-Mannosidosis
Short neck, Kyphosis, Craniofacial hyperostosis, Cataract, Corneal opacity, Splenomegaly, Avascul... ORPHA:61
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency
Cholelithiasis, Normocytic anemia, Cholecystitis, Splenomegaly, Jaundice, Nonspherocytic hemolyti... OMIM:235700
Lateral Meningocele Syndrome
Wormian bones, Short neck, Kyphosis, Sclerosis of skull base, Joint hypermobility, Inguinal herni... OMIM:130720
Roch-Leri Mesosomatous Lipomatosis
Multiple lipomas, Thrombocytopenia ORPHA:529
Summitt Syndrome
Obesity, Craniosynostosis OMIM:272350
Hypophosphatemic Rickets, Autosomal Recessive, 1
Craniosynostosis, Increased bone mineral density, Hypophosphatemic rickets, Hypophosphatemia, Ric... OMIM:241520
Absence Deformity Of Leg-Cataract Syndrome
Cataract, Hyperlordosis, Scoliosis ORPHA:2310
Ankylosing Vertebral Hyperostosis With Tylosis
Abnormality of the vertebral column, Obesity, Osteoarthritis ORPHA:2206
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Kyphosis, Abnormality of the cervical spine, Microcornea, Cataract, Osteoporosis, Scoliosis, Camp... ORPHA:48431
Microtriplication 11Q24.1
Short neck, Hyperlipidemia, Obesity, Joint dislocation, Scoliosis, Keratoconus, Genu valgum, Limi... ORPHA:289522
Fanconi Renotubular Syndrome 2
Generalized aminoaciduria, Glycosuria, Osteopenia, Proximal tubulopathy, Hypercalciuria, Renal in... OMIM:613388
Hypophosphatemic Rickets, Autosomal Dominant
Hypophosphatemic rickets, Osteomalacia, Bone pain, Hypophosphatemia, Rickets, Renal phosphate was... OMIM:193100
Galactose Epimerase Deficiency
Aminoaciduria, Cataract, Splenomegaly, Weight loss ORPHA:79238
Stiff Skin Syndrome
Lipodystrophy, Elbow flexion contracture, Cataract, Knee flexion contracture, Camptodactyly, Limi... OMIM:184900
Autosomal Recessive Hypophosphatemic Rickets
Pseudo-fractures, Genu varum, Craniosynostosis, Increased bone mineral density, Abnormal trabecul... ORPHA:289176
Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Enlargement of the ankles, Sparse bone trabeculae, Recurrent fractures, Enlargement of the wrists... OMIM:600081
Lymphangiectasia, Intestinal
Lymphopenia OMIM:152800
Wagr Syndrome
Cataract, Obesity, Scoliosis, Aplasia/Hypoplasia of the iris, Displacement of the urethral meatus ORPHA:893
Sepsis In Premature Infants
Petechiae, Leukocytosis, Decreased liver function, Hepatomegaly, Jaundice, Thrombocytopenia, Sple... ORPHA:90051
Wilson Disease
Glycosuria, Renal tubular dysfunction, Nephrolithiasis, Proteinuria, Kayser-Fleischer ring, Hyper... OMIM:277900
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Hepatosplenomegaly, Leukocytosis, Anisocytosis, Chronic hemolytic anemia, Hemolytic anemia, Ellip... OMIM:618278
Hemolytic Anemia Due To Glutathione Reductase Deficiency
Fava bean-induced hemolytic anemia, Cataract, Hyperbilirubinemia OMIM:618660
Alg12-Cdg
Hyponatremia, Micropenis, Hypospadias, Abnormal bone ossification, Failure to thrive, Scoliosis, ... ORPHA:79324
Myh9-Related Disease
Proteinuria, Giant platelets, Presenile cataracts, Nephritis, Nephropathy, Neutrophil inclusion b... ORPHA:182050
Eosinophilia, Familial
Eosinophilia, Leukocytosis, Thrombocytopenia, Anemia OMIM:131400
Fumarase Deficiency
Pallor, Hepatic failure, Cholestasis, Polycythemia OMIM:606812
Cardiospondylocarpofacial Syndrome
Carpal synostosis, Horseshoe kidney, Joint laxity, Failure to thrive, Scoliosis, Synostosis of ca... OMIM:157800
Methemoglobinemia And Ambiguous Genitalia
Methemoglobinemia OMIM:250790
Aplasia Cutis Congenita With Intestinal Lymphangiectasia
Lymphopenia OMIM:207731
Glycogen Storage Disease Xii
Cholelithiasis, Normocytic anemia, Cholecystitis, Splenomegaly, Jaundice, Short stature, Nonspher... OMIM:611881
Frontometaphyseal Dysplasia 1
Increased density of long bone diaphyses, Partial fusion of tarsals, Camptodactyly of finger, Hyd... OMIM:305620
Leukocyte Adhesion Deficiency, Type Iii
Petechiae, Leukocytosis, Hepatosplenomegaly, Splenomegaly, Hepatomegaly, Anemia, Extramedullary h... OMIM:612840
Fibrodysplasia Ossificans Progressiva
Small cervical vertebral bodies, Ectopic ossification in ligament tissue, Ectopic ossification in... OMIM:135100
Koolen-De Vries Syndrome
Kyphosis, Sacral dimple, Small for gestational age, Hydronephrosis, Cataract, Joint hypermobility... OMIM:610443
Immunodeficiency 46
Intermittent thrombocytopenia, Neutropenia, Anemia, Failure to thrive, Conjunctivitis OMIM:616740
Hemochromatosis, Type 4
Cirrhosis, Anemia, Hepatic steatosis, Hepatomegaly OMIM:606069
Rapidly Involuting Congenital Hemangioma
Avascular necrosis, Thrombocytopenia, Lipoatrophy ORPHA:141184
Fanconi Anemia, Complementation Group I
Decreased body weight, Short neck, Horseshoe kidney, Renal hypoplasia, Astigmatism, Neutropenia, ... OMIM:609053
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss
Hypokalemia, Nephrocalcinosis, Distal renal tubular acidosis, Hypercalciuria, Failure to thrive, ... OMIM:602722
Osteopetrosis, Autosomal Recessive 2
Cranial hyperostosis, Pancytopenia, Diaphyseal sclerosis, Hepatosplenomegaly, Recurrent fractures... OMIM:259710
Hypophosphatasia, Adult
Recurrent fractures, Increased susceptibility to fractures, Osteomalacia, Chondrocalcinosis, Arth... OMIM:146300
Aggressive Systemic Mastocytosis
Pancytopenia, Abnormal mast cell morphology, Hepatosplenomegaly, Leukemia, Leukocytosis, Osteopor... ORPHA:98850
Wolman Disease
Hepatic failure, Splenomegaly, Hepatomegaly, Growth delay, Anemia, Bone-marrow foam cells ORPHA:75233