Gene Summary

Name:
arachidonate 15-lipoxygenase
Synonyms:
Alox12l,  12-LO,  L-12LO

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
persistence of hyaloid vascular system Alox15tm1b(KOMP)Mbp HOM Early adult 6.77×10-05
small superior vagus ganglion Alox15tm1b(KOMP)Mbp HOM Early adult 0.00
hydrometra Alox15tm1b(KOMP)Mbp HOM Early adult 0.00

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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
Epididymis  Section images homozygote 100% (1 of 1)
Ileum  Section images heterozygote 100% (1 of 1)
Ileum  Section images homozygote 100% (1 of 1)
Prostate gland  Section images homozygote 100% (1 of 1)
Testis  Section images homozygote 100% (1 of 1)
Tongue  Section images heterozygote 100% (1 of 1)
Vas deferens  Section images homozygote 100% (1 of 1)
Adrenal gland N/A heterozygote 0.0% (0 of 1)
Adrenal gland N/A homozygote 0.0% (0 of 1)
Aorta N/A heterozygote 0.0% (0 of 1)
Aorta N/A homozygote 0.0% (0 of 1)
Blood N/A heterozygote 0.0% (0 of 1)
Blood N/A homozygote 0.0% (0 of 1)
Bone marrow N/A heterozygote 0.0% (0 of 1)
Bone marrow N/A homozygote 0.0% (0 of 1)
Brain N/A heterozygote Not available
Brain N/A homozygote Not available
Brainstem N/A heterozygote Not available
Brainstem N/A homozygote Not available
Brown adipose tissue N/A heterozygote 0.0% (0 of 1)
Brown adipose tissue N/A homozygote 0.0% (0 of 1)
Cartilage tissue N/A heterozygote Not available
Cartilage tissue N/A homozygote Not available
Cecum N/A heterozygote 0.0% (0 of 1)
Cecum N/A homozygote 0.0% (0 of 1)
Cerebellum N/A heterozygote 0.0% (0 of 1)
Cerebellum N/A homozygote 0.0% (0 of 1)
Cerebral cortex N/A heterozygote Not available
Cerebral cortex N/A homozygote Not available
Chest bone N/A heterozygote Not available
Chest bone N/A homozygote Not available
Colon N/A heterozygote 0.0% (0 of 1)
Colon N/A homozygote 0.0% (0 of 1)
Diaphragm N/A heterozygote 0.0% (0 of 1)
Diaphragm N/A homozygote 0.0% (0 of 1)
Duodenum N/A heterozygote 0.0% (0 of 1)
Duodenum N/A homozygote 0.0% (0 of 1)
Epididymis N/A heterozygote Not available
Esophagus N/A heterozygote 0.0% (0 of 1)
Esophagus N/A homozygote 0.0% (0 of 1)
Eye N/A heterozygote 0.0% (0 of 1)
Eye N/A homozygote 0.0% (0 of 1)
Gall bladder N/A heterozygote Not available
Gall bladder N/A homozygote Not available
Gonadal fat pad N/A heterozygote 0.0% (0 of 1)
Gonadal fat pad N/A homozygote 0.0% (0 of 1)
Harderian gland N/A heterozygote 0.0% (0 of 1)
Harderian gland N/A homozygote 0.0% (0 of 1)
Heart N/A heterozygote Not available
Heart N/A homozygote Not available
Hindlimb N/A heterozygote Not available
Hindlimb N/A homozygote Not available
Hippocampus N/A heterozygote Not available
Hippocampus N/A homozygote Not available
Hypothalamus N/A heterozygote Not available
Hypothalamus N/A homozygote Not available
Jejunum N/A heterozygote 0.0% (0 of 1)
Jejunum N/A homozygote Not available
Kidney N/A heterozygote 0.0% (0 of 1)
Kidney N/A homozygote 0.0% (0 of 1)
Large intestine N/A heterozygote Not available
Large intestine N/A homozygote Not available
Liver N/A heterozygote 0.0% (0 of 1)
Liver N/A homozygote 0.0% (0 of 1)
Lower urinary tract N/A heterozygote Not available
Lower urinary tract N/A homozygote Not available
Lung N/A heterozygote 0.0% (0 of 1)
Lung N/A homozygote 0.0% (0 of 1)
Lymph node N/A heterozygote Not available
Lymph node N/A homozygote Not available
Mammary gland N/A heterozygote 0.0% (0 of 1)
Mammary gland N/A homozygote Not available
Mesenteric adipose tissue N/A heterozygote 0.0% (0 of 1)
Mesenteric adipose tissue N/A homozygote 0.0% (0 of 1)
Mesenteric lymph node N/A heterozygote 0.0% (0 of 1)
Mesenteric lymph node N/A homozygote Not available
Midbrain N/A heterozygote 0.0% (0 of 1)
Midbrain N/A homozygote 0.0% (0 of 1)
Olfactory lobe N/A heterozygote 0.0% (0 of 1)
Olfactory lobe N/A homozygote 0.0% (0 of 1)
Ovary N/A heterozygote 0.0% (0 of 1)
Ovary N/A homozygote Not available
Oviduct N/A heterozygote 0.0% (0 of 1)
Oviduct N/A homozygote Not available
Pancreas N/A heterozygote 0.0% (0 of 1)
Pancreas N/A homozygote 0.0% (0 of 1)
Parathyroid gland N/A heterozygote 0.0% (0 of 1)
Parathyroid gland N/A homozygote Not available
Parotid gland N/A heterozygote 0.0% (0 of 1)
Parotid gland N/A homozygote 0.0% (0 of 1)
Penis N/A heterozygote Not available
Penis N/A homozygote 0.0% (0 of 1)
Peripheral nervous system N/A heterozygote Not available
Peripheral nervous system N/A homozygote Not available
Peyer's patch N/A heterozygote Not available
Peyer's patch N/A homozygote Not available
Pituitary gland N/A heterozygote 0.0% (0 of 1)
Pituitary gland N/A homozygote 0.0% (0 of 1)
Prostate gland N/A heterozygote Not available
Quadriceps N/A heterozygote 0.0% (0 of 1)
Quadriceps N/A homozygote 0.0% (0 of 1)
Sciatic nerve N/A heterozygote 0.0% (0 of 1)
Sciatic nerve N/A homozygote 0.0% (0 of 1)
Skeletal muscle N/A heterozygote Not available
Skeletal muscle N/A homozygote Not available
Skin N/A heterozygote 0.0% (0 of 1)
Skin N/A homozygote 0.0% (0 of 1)
Small intestine N/A heterozygote Not available
Small intestine N/A homozygote Not available
Spinal cord N/A heterozygote 0.0% (0 of 1)
Spinal cord N/A homozygote 0.0% (0 of 1)
Spleen N/A heterozygote 0.0% (0 of 1)
Spleen N/A homozygote 0.0% (0 of 1)
Stomach pyloric region N/A heterozygote Not available
Stomach pyloric region N/A homozygote Not available
Stomach N/A heterozygote 0.0% (0 of 1)
Stomach N/A homozygote 0.0% (0 of 1)
Striatum N/A heterozygote Not available
Striatum N/A homozygote Not available
Sublingual gland N/A heterozygote 0.0% (0 of 1)
Sublingual gland N/A homozygote 0.0% (0 of 1)
Submandibular gland N/A heterozygote 0.0% (0 of 1)
Submandibular gland N/A homozygote 0.0% (0 of 1)
Testis N/A heterozygote Not available
Thymus N/A heterozygote 0.0% (0 of 1)
Thymus N/A homozygote 0.0% (0 of 1)
Thyroid gland N/A heterozygote 0.0% (0 of 1)
Thyroid gland N/A homozygote 0.0% (0 of 1)
Tongue N/A homozygote 0.0% (0 of 1)
Trachea N/A heterozygote 0.0% (0 of 1)
Trachea N/A homozygote 0.0% (0 of 1)
Trigeminal V nerve N/A heterozygote 0.0% (0 of 1)
Trigeminal V nerve N/A homozygote 0.0% (0 of 1)
Urinary bladder N/A heterozygote 0.0% (0 of 1)
Urinary bladder N/A homozygote 0.0% (0 of 1)
Uterus N/A heterozygote 0.0% (0 of 1)
Uterus N/A homozygote Not available
Vagina N/A heterozygote 0.0% (0 of 1)
Vagina N/A homozygote Not available
Vas deferens N/A heterozygote Not available
Vascular system N/A heterozygote Not available
Vascular system N/A homozygote Not available
Vesicular gland N/A heterozygote Not available
Vesicular gland N/A homozygote 0.0% (0 of 1)
White adipose tissue N/A heterozygote Not available
White adipose tissue N/A homozygote Not available
No Embryo expression data was found for this gene.

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

Anatomy Background staining in controls (WT)
adrenal gland 0.7% (4 of 573)
aorta 0.18% (1 of 571)
blood 0.0%
bone marrow 0.0%
brain 0.53% (3 of 570)
brainstem 0.35% (2 of 564)
brown adipose tissue 0.0%
cartilage tissue 0.18% (1 of 569)
cecum 3.33% (12 of 360)
cerebellum 0.53% (3 of 565)
cerebral cortex 0.35% (2 of 565)
chest bone Unavailable
colon 9.6% (12 of 125)
diaphragm 0.0%
duodenum 1.63% (2 of 123)
epididymis 13.08% (17 of 130)
esophagus 1.8% (7 of 389)
eye 0.0%
gall bladder 0.0%
gonadal fat pad 0.0%
harderian gland 0.0%
heart 0.35% (2 of 566)
hindlimb 0.0%
hippocampus 0.53% (3 of 571)
hypothalamus 0.36% (2 of 560)
ileum 9.68% (12 of 124)
jejunum 4.84% (6 of 124)
kidney 3.72% (21 of 565)
large intestine 1.78% (10 of 561)
liver 0.0%
lower urinary tract 0.0%
lung 0.35% (2 of 577)
lymph node 0.18% (1 of 566)
mammary gland 0.0%
mesenteric adipose tissue 0.0%
mesenteric lymph node 0.0%
midbrain 0.0%
olfactory lobe 0.18% (1 of 553)
ovary 0.18% (1 of 566)
oviduct 0.0%
pancreas 0.89% (5 of 559)
parathyroid gland 0.18% (1 of 546)
parotid gland 0.0%
penis 0.0%
peripheral nervous system 0.35% (2 of 574)
peyers patch 0.0%
pituitary gland 0.18% (1 of 570)
prostate gland 1.77% (10 of 564)
quadriceps 0.0%
sciatic nerve 0.0%
skeletal muscle 0.0%
skin 0.18% (1 of 563)
small intestine 1.59% (9 of 565)
spinal cord 0.53% (3 of 566)
spleen 0.53% (3 of 566)
stomach 2.12% (12 of 565)
stomach pyloric region 0.0%
striatum 0.53% (3 of 567)
sublingual gland 0.0%
submandibular gland 1.56% (2 of 128)
testis 1.05% (6 of 572)
thymus 0.18% (1 of 567)
thyroid gland 2.84% (16 of 563)
tongue 3.25% (4 of 123)
trachea 0.53% (3 of 562)
trigeminal v nerve 0.0%
urinary bladder 0.0%
uterus 0.0%
vagina 0.0%
vas deferens 4.03% (15 of 372)
vascular system 0.0%
vesicular gland 0.0%
white adipose tissue 0.0%
No Embryo expression data was found for this gene.

Associated Images

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

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

Adult LacZ

LacZ Images Section

11 Images

Human diseases caused by Alox15 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 Alox15 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Erythroleukemia, Familial, Susceptibility To
Hepatomegaly, Erythroid hyperplasia, Leukemia, Anemia, Splenomegaly, Acute myeloid leukemia, Thro... OMIM:133180
Cephalin Lipidosis
Abnormality of the spleen OMIM:212800
Fetal Cytomegalovirus Syndrome
Hepatomegaly, Anemia, Splenomegaly ORPHA:294
Hypereosinophilic Syndrome, Idiopathic
Hepatomegaly, Pruritus, Splenomegaly, Myeloproliferative disorder, Eosinophilia OMIM:607685
Systemic Mastocytosis With Associated Hematologic Neoplasm
Lymphadenopathy, Normochromic anemia, Chronic myelomonocytic leukemia, Splenomegaly, Eosinophilia... ORPHA:98849
Tuftsin Deficiency
Abnormality of the spleen OMIM:191150
Hyperaldosteronism, Familial, Type Iv
Hypertension OMIM:617027
Ras-Associated Autoimmune Leukoproliferative Disorder
Hepatomegaly, Neutropenia, Monocytosis, Leukemia, Lymphoproliferative disorder, Lymphoma, Splenom... OMIM:614470
Immunodeficiency 36
Chronic lymphatic leukemia, Bronchiectasis, Splenomegaly, B-cell lymphoma, Lymphopenia OMIM:616005
Diamond-Blackfan Anemia 19
Anemia, Steroid-responsive anemia, Erythroid hypoplasia OMIM:618312
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Positive
Hepatomegaly, Eczema, Pneumonia, Lymphadenopathy, Splenomegaly, Otitis media, T lymphocytopenia OMIM:608971
Reticuloendotheliosis, X-Linked
Lymphadenopathy, Hepatosplenomegaly, Anemia, Jaundice OMIM:312500
Chronic Myeloid Leukemia
Thrombocytosis, Abnormal basophil morphology, Leukocytosis, Abnormal granulocyte morphology, Sple... ORPHA:521
Pulmonary Nodular Lymphoid Hyperplasia
Plasmacytosis, Mediastinal lymphadenopathy, Follicular hyperplasia ORPHA:60026
Kerion Celsi
Lymphadenopathy, Recurrent skin infections, Inflammatory abnormality of the skin, Recurrent cutan... ORPHA:499
Diamond-Blackfan Anemia-Like
Steroid-responsive anemia, Pure red cell aplasia OMIM:617911
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To
Eczema, Myelodysplasia, Leukopenia, Monocytosis, Refractory anemia, Bone marrow hypocellularity, ... OMIM:616871
Dysplasia Of Head Of Femur, Meyer Type
Leukocytosis, Enlarged tonsils ORPHA:168621
Alpha-Thalassemia-Myelodysplastic Syndrome
Neutropenia, Myelodysplasia, Acute leukemia, Splenomegaly, Microcytic anemia, Thrombocytopenia, H... ORPHA:231401
Familial Thrombocytosis
Thrombocytosis, Myelodysplasia, Pruritus, Chronic myelogenous leukemia, Splenomegaly, Acute myelo... ORPHA:71493
Immunodeficiency 75
Decreased proportion of class-switched memory B cells, Bronchiectasis, Lymphadenopathy, Lymphoma,... OMIM:619126
Transient Erythroblastopenia Of Childhood
Transient erythroblastopenia, Anemia OMIM:227050
Myeloproliferative Syndrome, Transient
Leukocytosis, Transient myeloproliferative syndrome OMIM:159595
Mantle Cell Lymphoma
Lymphadenopathy, B-cell lymphoma, Splenomegaly ORPHA:52416
Acquired Idiopathic Sideroblastic Anemia
Leukocytosis, Thrombocytosis, Hepatomegaly, Neutropenia, Normocytic anemia, Megaloblastic erythro... ORPHA:75564
Generalized Eruptive Histiocytosis
Leukemia, Pruritus, Hypereosinophilia, Maculopapular exanthema, Histiocytosis ORPHA:157991
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Lymphadenopathy, Hepatitis, Recurrent otitis media, Splenomegaly, Autoimmune thrombocytopenia, Ly... ORPHA:444463
Benign Cephalic Histiocytosis
Inflammatory abnormality of the skin, Skin rash, Histiocytosis ORPHA:157997
Macroglobulinemia, Waldenstrom, Susceptibility To, 1
Leukemia, Monoclonal immunoglobulin M proteinemia, Impaired lymphocyte transformation with phytoh... OMIM:153600
Hemoglobin D Disease
Reduced alpha/beta synthesis ratio, Imbalanced hemoglobin synthesis, Sickled erythrocytes, Anemia... ORPHA:90039
Omenn Syndrome
B lymphocytopenia, Hepatomegaly, Erythroderma, Pneumonia, Lymphadenopathy, Hypoplasia of the thym... OMIM:603554
Autoimmune Hemolytic Anemia, Warm Type
Chronic lymphatic leukemia, Lymphoproliferative disorder, Splenomegaly, Autoimmune hemolytic anem... ORPHA:90033
Myeloproliferative Disorder, Chronic, With Eosinophilia
Myeloproliferative disorder, Eosinophilia, Malignant eosinophil proliferation OMIM:131440
Sweet Syndrome
Leukocytosis, Chronic lymphatic leukemia, Inflammation of the large intestine, Sterile abscess, P... ORPHA:3243
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome
Hepatomegaly, Splenomegaly ORPHA:2274
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Persistence of hemoglobin F, Anemia, Hepatomegaly, Splenomegaly ORPHA:46532
Diamond-Blackfan Anemia 17
Anemia OMIM:617409
Glycoprotein Storage Disease
Gout, Splenomegaly OMIM:232900
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Hepatomegaly, Lymphadenopathy, Recurrent otitis media, Splenomegaly, Autoimmune hemolytic anemia OMIM:618495
Fanconi Anemia, Complementation Group G
Myelodysplasia, Neutropenia, Leukemia, Anemia, Thrombocytopenia OMIM:614082
Immunodeficiency 76
B lymphocytopenia, Colitis, Lymphadenopathy, Splenomegaly, B-cell lymphoma, Recurrent pneumonia, ... OMIM:619164
Omenn Syndrome
Leukocytosis, Hepatomegaly, Erythroderma, Pneumonia, Lymphadenopathy, Pruritus, Abnormal lymphocy... ORPHA:39041
Anemia, Sideroblastic, Pyridoxine-Responsive, Autosomal Recessive
Hypochromia, Sideroblastic anemia, Hepatosplenomegaly, Decreased mean corpuscular volume, Pyridox... OMIM:206000
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Acute lymphoblastic leukemia, Neutropenia, Splenomegaly, Hepatosplenomegaly, Pancytopenia, Nephro... ORPHA:158057
Hemophagocytic Lymphohistiocytosis, Familial, 4
Conjunctivitis, Hepatomegaly, Neutropenia, Lymphadenopathy, Anemia, Splenomegaly, Skin rash, Thro... OMIM:603552
Mastocytosis
Hepatomegaly, Acute leukemia, Pruritus, Chronic leukemia, Splenomegaly, Sarcoma, Mastocytosis ORPHA:98292
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality
Thrombocytosis, Macrocytic anemia, Myelodysplasia, Leukopenia, Bone marrow hypocellularity, Multi... ORPHA:86841
Immunodeficiency 69
Thrombocytosis, Leukocytosis, Anemia, Splenomegaly, Hepatosplenomegaly, Skin rash, Pancytopenia OMIM:618963
Immunodeficiency 84
B lymphocytopenia, B-cell lymphoma, Perianal abscess, Splenomegaly OMIM:619437
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Neutropenia, Increased mean corpuscular volume, Myelodysplasia, Anemia, Bone marrow hypocellulari... OMIM:619041
Nodular Lymphocyte Predominant Hodgkin Lymphoma
Hepatomegaly, Lymphadenopathy, Pruritus, Lymphoma, Splenomegaly, Breast carcinoma, B-cell lymphoma ORPHA:86893
Glioma Susceptibility 9
Leukemia, Glioma, Astrocytoma OMIM:616568
Hemoglobin H Disease
Hepatomegaly, Reduced alpha/beta synthesis ratio, HbH hemoglobin, Splenomegaly, Hemolytic anemia OMIM:613978
Leukemia, Chronic Myeloid
Ph-positive acute lymphoblastic leukemia, Chronic myelogenous leukemia OMIM:608232
Schnitzler Syndrome
Leukocytosis, Hepatomegaly, Lymphadenopathy, Pruritus, Anemia, Arthritis, Lymphoma, Splenomegaly,... ORPHA:37748
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Thrombocytosis, Neutropenia, Monocytosis, Congenital agranulocytosis, Anemia, Acute monocytic leu... OMIM:202700
Sézary Syndrome
Hepatomegaly, Neoplasm of the skin, Erythroderma, Lymphadenopathy, Pruritus, Abnormal lymphocyte ... ORPHA:3162
Immunodeficiency 52
Bronchiectasis, Coombs-positive hemolytic anemia, Increased proportion of gamma-delta T cells, Ly... OMIM:617514
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Hepatomegaly, Neutropenia, Leukopenia, Anemia, Splenomegaly, Extramedullary hematopoiesis, Thromb... OMIM:615285
Trimethylaminuria
Anemia, Recurrent pneumonia, Neutropenia, Splenomegaly OMIM:602079
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Mediastinal lymphadenopathy, Hodgkin lymphoma, Lymphoproliferative disorder, Lymphadenopathy, Bro... OMIM:300853
Ataxia-Pancytopenia Syndrome
Hypoplastic anemia, Acute myelomonocytic leukemia, Splenomegaly, Abnormal macrophage morphology, ... ORPHA:2585
Squamous Cell Carcinoma Of The Esophagus
Lymphadenopathy, Esophageal carcinoma ORPHA:99977
Leukocyte Adhesion Deficiency, Type Iii
Leukocytosis, Hepatomegaly, Anemia, Abnormality of the lymph nodes, Splenomegaly, Hepatosplenomeg... OMIM:612840
Immunodeficiency 60 And Autoimmunity
Bronchiectasis, Splenomegaly, Crohn's disease, Decreased basophil count, Decreased proportion of ... OMIM:618394
Familial Cold Autoinflammatory Syndrome 2
Leukocytosis, Lymphadenopathy, Arthritis, Splenomegaly, Skin rash, Recurrent aphthous stomatitis,... OMIM:611762
Immunodeficiency 7
Lymphadenopathy, Hypereosinophilia OMIM:615387
Aggressive Systemic Mastocytosis
Leukocytosis, Neutropenia, Thrombocytopenia, Ascites, Leukemia, Lymphadenopathy, Pruritus, Anemia... ORPHA:98850
Immunodeficiency 72 With Autoinflammation
Increased B cell count, Herpes simplex encephalitis, Increased proportion of memory T cells, Bron... OMIM:618982
Immunodeficiency 48
Hepatomegaly, Eczematoid dermatitis, Pneumonia, Splenomegaly OMIM:269840
Candidiasis, Familial, 2
Lymphadenopathy, Chronic oral candidiasis, Hypereosinophilia, Deep dermatophytosis OMIM:212050
Anemia, Sideroblastic, 4
Abnormal erythrocyte morphology, Sideroblastic anemia, Refractory anemia with ringed sideroblasts OMIM:182170
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Fluctuating splenomegaly, Facial papilloma, Neutropenia in presence of anti-neutropil antibodies,... OMIM:619220
Immunodeficiency 55
Eczema, Myelodysplasia, Neutropenia, Lymphadenopathy, Recurrent skin infections OMIM:617827
Beta-Thalassemia, Dominant Inclusion Body Type
Hepatomegaly, Splenomegaly, Persistence of hemoglobin F, Microcytic anemia, Erythrocyte inclusion... OMIM:603902
Unclassified Myelodysplastic Syndrome
Leukocytosis, Myelodysplasia, Bone marrow hypocellularity, Multiple lineage myelodysplasia, Acute... ORPHA:98827
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Thrombocytopenia, Anemia, Abnormal hemoglobin, Splenomegaly ORPHA:231393
Thrombocytopenia 2
Leukocytosis, Thrombocytopenia OMIM:188000
Proteasome-Associated Autoinflammatory Syndrome 5
Hepatomegaly, Skin rash, Splenomegaly OMIM:619175
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Erythroderma, Pneumonia, Chronic oral candidiasis, Hepatitis, Decreased proportion of CD3-positiv... ORPHA:169160
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive
Leukocytosis, Anemia, Ulcerative colitis OMIM:619398
Autoinflammation With Episodic Fever And Lymphadenopathy
Hepatomegaly, Lymphadenopathy, Splenomegaly, Microcytic anemia, Recurrent tonsillitis OMIM:618852
Immunodeficiency 32A
Lymphadenopathy OMIM:614893
Lymphoblastic Leukemia, Acute, With Lymphomatous Features
T-cell acute lymphoblastic leukemias, Acute lymphoblastic leukemia, Lymphoma OMIM:247640
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Eczema, Neutropenia, Erythroderma, Glomerulonephritis, Coombs-positive hemolytic anemia, Lymphade... OMIM:304790
Classic Mycosis Fungoides
Hepatomegaly, Neoplasm of the skin, Eczema, Lymphadenopathy, Pruritus, Abnormal lymphocyte morpho... ORPHA:2584
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Pancytopenia, Hypersplenism, Decreased helper T cell proportion, Splenomegaly OMIM:183350
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism
Jaundice, Nonspherocytic hemolytic anemia, Splenomegaly OMIM:206400
Deafness-Lymphedema-Leukemia Syndrome
Leukocytosis, Hepatomegaly, Acute leukemia, Lymphadenopathy, Chronic otitis media, Bone marrow hy... ORPHA:3226
Immunodeficiency 16
Coombs-positive hemolytic anemia, Kaposi's sarcoma, Pancytopenia, Splenomegaly OMIM:615593
Indolent Systemic Mastocytosis
Hepatomegaly, Lymphadenopathy, Pruritus, Abnormal mast cell morphology, Splenomegaly, Skin rash, ... ORPHA:98848
Hemoglobin C-Beta-Thalassemia Syndrome
Microcytic anemia, Anemia, Abnormal hemoglobin, Splenomegaly ORPHA:231242
Mendelian Susceptibility To Mycobacterial Diseases Due To Partial Irf8 Deficiency
Lymphadenopathy ORPHA:319600
X-Linked Sideroblastic Anemia And Spinocerebellar Ataxia
Anemia ORPHA:2802
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency
Hepatomegaly, Decreased proportion of class-switched memory B cells, Hodgkin lymphoma, Decreased ... OMIM:619375
Hepatic Venoocclusive Disease With Immunodeficiency
Abnormality of the liver, Absence of lymph node germinal center OMIM:235550
Leukemia, Chronic Lymphocytic
Chronic lymphatic leukemia OMIM:151400
Leukemia, Chronic Lymphocytic, Susceptibility To, 2
Chronic lymphatic leukemia OMIM:109543
Mast Cell Sarcoma
Hepatomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Splenomegaly, Sarcoma, Mastocytosis ORPHA:66661
Lymphoproliferative Syndrome 3
Hodgkin lymphoma, Lymphoproliferative disorder, Lymphadenopathy, Reduced natural killer cell coun... OMIM:618261
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Neutropenia, Erythroderma, Lymphadenopathy, Decreased proportion of CD3-positive T cells, Hepatos... ORPHA:169154
Immunodeficiency 14A, Autosomal Dominant
Increased proportion of transitional B cells, Decreased proportion of class-switched memory B cel... OMIM:615513
Diffuse Cutaneous Mastocytosis
Abnormality of the spleen, Hepatomegaly, Erythroderma, Lymphadenopathy, Pruritus, Abnormality of ... ORPHA:79456
Wiskott-Aldrich Syndrome
Sinusitis, Eczema, Inflammation of the large intestine, Neutropenia, Chronic otitis media, Hypopl... ORPHA:906
Juvenile Myelomonocytic Leukemia
Juvenile myelomonocytic leukemia OMIM:607785
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Abnormal CD4:CD8 ratio, B lymphocytopenia, Neutropenia, Bronchiectasis, Lymphadenopathy, Abscess,... OMIM:150550
Acne Inversa, Familial, 3
Perifolliculitis, Acne inversa, Chronic furunculosis, Recurrent cutaneous abscess formation OMIM:613737
Combined Immunodeficiency Due To Zap70 Deficiency
Pneumonia, Lymphoproliferative disorder, Lymphadenopathy, Lymphadenitis, Stomatitis, Chronic oral... ORPHA:911
Mu-Heavy Chain Disease
Hepatomegaly, Abnormal B cell count, Lymphadenopathy, Anemia, Splenomegaly ORPHA:100024
Immunodeficiency 27A
Thrombocytosis, Leukocytosis, Enlarged mesenteric lymph node, Pneumonia, Lymphadenopathy, Salmone... OMIM:209950
Alpha-Thalassemia
Myelodysplasia, Anemia, Abnormal hemoglobin, Cholelithiasis, Splenomegaly, Hypersplenism, Microcy... ORPHA:846
Diamond-Blackfan Anemia 18
Steroid-responsive anemia, Neutropenia, Erythroid hypoplasia OMIM:618310
Myelocytic Leukemia-Like Syndrome, Familial, Chronic
Chronic myelogenous leukemia OMIM:600080
Hemophagocytic Lymphohistiocytosis, Familial, 3
Granulocytopenia, Hepatosplenomegaly, Hemophagocytosis, Anemia OMIM:608898
Myeloproliferative Disease, Autosomal Recessive
Myeloproliferative disorder OMIM:254700
Anemia, Hypochromic Microcytic, With Iron Overload 1
Abnormality of the liver, Decreased mean corpuscular volume, Hypochromia, Anemia OMIM:206100
Pulmonary Fibrosis And/Or Bone Marrow Failure, Telomere-Related, 2
Pancytopenia, Leukemia, Bone marrow hypocellularity, Cirrhosis, Myeloid leukemia, Aplastic anemia OMIM:614743
Chilblain Lupus
Inflammatory abnormality of the skin, Pruritis on hand, Discoid lupus rash, Chronic myelomonocyti... ORPHA:90280
Immunodeficiency 51
Eczema, Folliculitis, Pustule, Pneumonia, Chronic furunculosis, Chronic oral candidiasis, Recurre... OMIM:613953
Cutaneous Neuroendocrine Carcinoma
Multiple myeloma, Lymphoid leukemia, Brain neoplasm, Basal cell carcinoma, Squamous cell carcinom... ORPHA:79140
Sea-Blue Histiocyte Disease
Cirrhosis, Thrombocytopenia, Sea-blue histiocytosis, Splenomegaly OMIM:269600
Immunodeficiency 38 With Basal Ganglia Calcification
Lymphadenopathy OMIM:616126
Hodgkin Lymphoma
Hepatomegaly, Lymphadenopathy, Pruritus, Neoplasm, Lymphoma, Splenomegaly ORPHA:98293
Immunodeficiency With Hyper-Igm, Type 4
Myelodysplasia, Bronchiectasis, Osteomyelitis, Autoimmune thrombocytopenia, Absence of lymph node... OMIM:608184
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Lymphadenopathy, Anemia, Splenomegaly, Hepatosplenomegaly, Thrombocytopenia, Colitis, Hemophagocy... OMIM:613101
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1
Acute myeloid leukemia, Myelodysplasia, Increased mean corpuscular volume, Thrombocytopenia OMIM:252270
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Hemolytic anemia, B lymphocytopenia, Eczema, Psoriasiform dermatitis, Erythroderma, Lymphadenopat... OMIM:606367
Immunodeficiency 21
Abnormal natural killer cell morphology, Neutropenia, Myelodysplasia, Lymphopenia, Myeloid leukem... OMIM:614172
Hyperbilirubinemia, Shunt, Primary
Hepatomegaly, Erythroid hyperplasia, Splenomegaly, Jaundice, Reticulocytosis, Anemia of inadequat... OMIM:237800
Cinca Syndrome
Leukocytosis, Lymphadenopathy, Anemia, Arthritis, Hepatosplenomegaly, Uveitis, Skin rash, Eosinop... OMIM:607115
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Absent tonsils, B lymphocytopenia, Sinusitis, Inflammatory abnormality of the skin, Recurrent oti... ORPHA:277
Alpha-Heavy Chain Disease
Hepatomegaly, Ascites, Lymphadenopathy, Anemia, Lymphoma, Splenomegaly ORPHA:100025
Anemia, Congenital Dyserythropoietic, Type Iv
Hepatomegaly, Erythroid hyperplasia, Anemia, Splenomegaly, Reticulocytosis, Anemia of inadequate ... OMIM:613673
Autoimmune Hemolytic Anemia, Cold Type
Hemolytic anemia, Abnormal leukocyte morphology, Splenomegaly ORPHA:228312
Persistent Polyclonal B-Cell Lymphocytosis
Hepatomegaly, Lymphocytosis, Splenomegaly OMIM:606445
Autosomal Dominant Severe Congenital Neutropenia
Acute lymphoblastic leukemia, Neutropenia, Myelodysplasia, Pneumonia, Monocytosis, Leukemia, Hema... ORPHA:486
Primary Erythromelalgia
Leukemia, Pruritus ORPHA:90026
Anemia, Hypochromic Microcytic, With Iron Overload 2
Hepatomegaly, Hypochromia, Anemia, Splenomegaly, Poikilocytosis, Decreased mean corpuscular volume OMIM:615234
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase
Recurrent pancreatitis, Splenomegaly OMIM:118830
Majeed Syndrome
Inflammatory abnormality of the skin, Erythroid hyperplasia, Osteomyelitis, Hepatosplenomegaly, M... OMIM:609628
Uterine Anomalies
Abnormality of the uterus, Bicornuate uterus OMIM:192000
Pulmonary Fibrosis And/Or Bone Marrow Failure, Telomere-Related, 1
Mediastinal lymphadenopathy, Myelodysplasia, Anemia, Bone marrow hypocellularity, Myeloid leukemi... OMIM:614742
Hemoglobin-Delta locus
Imbalanced hemoglobin synthesis, Anemia OMIM:142000
Immunodeficiency 64
Abnormal CD4:CD8 ratio, Mediastinal lymphadenopathy, Bronchiectasis, Lymphadenopathy, Splenomegal... OMIM:618534
Bullous Diffuse Cutaneous Mastocytosis
Pruritus, Cutaneous mastocytosis, Erythroderma ORPHA:280785
Lymphoproliferative Syndrome, X-Linked, 2
Hepatomegaly, Inflammation of the large intestine, Folliculitis, Colitis, Hepatitis, Acne, Spleno... OMIM:300635
Kimura Disease
Lymphadenopathy, Eosinophilia, Follicular hyperplasia ORPHA:482
Acute Erythroid Leukemia
Leukopenia, Bone marrow hypocellularity, Anemia, Erythroid hypoplasia, Pancytopenia, Refractory a... ORPHA:318
Eosinophilia, Familial
Leukocytosis, Eosinophilia, Anemia, Thrombocytopenia OMIM:131400
Immunodeficiency, Common Variable, 1
B lymphocytopenia, Hepatomegaly, Decreased proportion of class-switched memory B cells, Pneumonia... OMIM:607594
Lymphoproliferative Syndrome 2
Hepatomegaly, Hodgkin lymphoma, Ascites, Lymphoproliferative disorder, Lymphadenopathy, EBV encep... OMIM:615122
Drug Reaction With Eosinophilia And Systemic Symptoms
Myocarditis, Tubulointerstitial nephritis, Erythroderma, Infectious encephalitis, Pustule, Lympha... ORPHA:139402
Li-Fraumeni Syndrome
Ovarian neoplasm, Acute lymphoblastic leukemia, Thyroid carcinoma, Astrocytoma, Choriocarcinoma, ... ORPHA:524
Immunodeficiency 15A
Recurrent otitis media, Acne inversa, Chronic mucocutaneous candidiasis, Decreased proportion of ... OMIM:618204
Anemia, Sideroblastic, 2, Pyridoxine-Refractory
Decreased mean corpuscular volume, Hypochromia, Anemia OMIM:205950
Letterer-Siwe Disease
Neutropenia, Stomatitis, Seborrheic dermatitis, Anemia, Hepatosplenomegaly, Thrombocytopenia, Jau... OMIM:246400
Tularemia
Brain abscess, Leukocytosis, Mediastinal lymphadenopathy, Pneumonia, Lymphadenopathy, Anemia, Abn... ORPHA:3392
Mismatch Repair Cancer Syndrome 2
T-cell acute lymphoblastic leukemias, Glioblastoma multiforme, Colon cancer OMIM:619096
Autoimmune Lymphoproliferative Syndrome, Type Iii
Increased B cell count, Hepatomegaly, Decreased proportion of class-switched memory B cells, Medi... OMIM:615559
Familial Hemophagocytic Lymphohistiocytosis
Hepatomegaly, Neutropenia, Erythroderma, Infectious encephalitis, Lymphadenopathy, Anemia, Spleno... ORPHA:540
Anemia, Congenital Dyserythropoietic, Type Ib
Hepatomegaly, Erythroid hyperplasia, Anemia, Splenomegaly, Jaundice, Anisocytosis, Poikilocytosis... OMIM:615631
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne
Thrombocytosis, Cystic acne, Sterile arthritis, Sterile abscess, Acne, Arthritis, Hepatosplenomeg... OMIM:604416
Ataxia-Pancytopenia Syndrome
Hypoplastic anemia, Neutropenia, Acute myelomonocytic leukemia, Anemia, Pancytopenia, Thrombocyto... OMIM:159550
Congenital Atransferrinemia
Anemia, Arthritis, Abnormality of the pancreas ORPHA:1195
Acute Monoblastic/Monocytic Leukemia
Leukocytosis, Anemia, Hypochromic anemia, Lymphocytosis, Acute monocytic leukemia, Cervical lymph... ORPHA:514
Neutropenia, Nonimmune Chronic Idiopathic, Of Adults
Acute myeloid leukemia, Neutropenia OMIM:607847
Immunodeficiency 50
Eczema, Neutropenia, Lymphopenia OMIM:300988
Hemoglobin E-Beta-Thalassemia Syndrome
Anemia, Abnormal hemoglobin ORPHA:231249
Essential Thrombocythemia
Myelodysplasia, Abnormal platelet morphology, Acute leukemia, Splenomegaly ORPHA:3318
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia
Abnormally low T cell receptor excision circle level, B lymphocytopenia, Cervical lymphadenopathy OMIM:618987
Neutropenia, Severe Congenital, 3, Autosomal Recessive
Acute lymphoblastic leukemia, Neutropenia, Myelodysplasia OMIM:610738
Hemoglobin E Disease
Hypochromia, Hypochromic microcytic anemia, Increased red blood cell count, Abnormal hemoglobin, ... ORPHA:2133
N Syndrome
Leukemia, Neoplasm OMIM:310465
Thanatophoric Dysplasia, Glasgow Variant
Hepatosplenomegaly, Anemia OMIM:273680
Amed Syndrome, Digenic
Myelodysplasia, Leukopenia, Bone marrow hypocellularity, Anemia, Acute myeloid leukemia, Thromboc... OMIM:619151
Burkitt Lymphoma
Abnormality of the spleen, Abnormality of the lymph nodes, Abnormality of the pancreas, Abnormali... ORPHA:543
Acute Panmyelosis With Myelofibrosis
Acute myelomonocytic leukemia, Bone marrow hypocellularity, Splenomegaly, Acute myeloid leukemia,... ORPHA:86843
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Congenital hemolytic anemia, Reduced red cell pyruvate kinase level, Prolonged neonatal jaundice,... ORPHA:766
Wt Limb-Blood Syndrome
Leukemia, Thrombocytopenia, Hypoplastic anemia, Pancytopenia OMIM:194350
Lymphoproliferative Syndrome 1
Hepatomegaly, Hodgkin lymphoma, Leukopenia, Lymphoproliferative disorder, Lymphadenopathy, Stomat... OMIM:613011
Hyperlipoproteinemia, Type Id
Hepatomegaly, Colitis, Splenomegaly OMIM:615947
Refractory Anemia
Macrocytic anemia, Normocytic anemia, Neutropenia, Myelodysplasia, Normochromic anemia, Bone marr... ORPHA:98826
Lymphoproliferative Syndrome, X-Linked, 1
Hepatomegaly, Neutropenia, Infectious encephalitis, Lymphadenopathy, Burkitt lymphoma, Fulminant ... OMIM:308240
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Eczema, Lymphadenopathy, Lymphadenitis, Abscess, Splenomegaly, Perianal abscess, Hepatosplenomega... OMIM:618935
Chromosome 5Q Deletion Syndrome
Anemia of inadequate production, Refractory macrocytic anemia, Myelodysplasia, Erythroid hypoplasia OMIM:153550
Lymphedema, Primary, With Myelodysplasia
Leukemia, Myelodysplasia, Pancytopenia OMIM:614038
Rosaï-Dorfman Disease
Lymphadenopathy, Anemia ORPHA:158014
Neutrophil Immunodeficiency Syndrome
Leukocytosis, Abnormality of neutrophil physiology ORPHA:183707
Isolated Agammaglobulinemia
Sinusitis, Pneumonia, Recurrent cutaneous abscess formation, Abnormality of the lymphatic system,... ORPHA:229717
Immunodeficiency, Common Variable, 2
Conjunctivitis, Hepatomegaly, Bronchiectasis, Lymphadenopathy, Recurrent otitis media, Neoplasm, ... OMIM:240500
Immunodeficiency, Common Variable, 13
Pancytopenia, B lymphocytopenia, Acute lymphoblastic leukemia OMIM:616873
Proteasome-Associated Autoinflammatory Syndrome 2
Lymphadenopathy, Thrombocytopenia, Skin rash OMIM:618048
Follicular Lymphoma
Mediastinal lymphadenopathy, Lymphadenopathy, Abnormality of the peritoneum, Lymphoma, Splenomegaly ORPHA:545
Leukemia, Acute Myelocytic, With Polyposis Coli And Colon Cancer
Acute myeloid leukemia, Adenomatous colonic polyposis, Colon cancer OMIM:246470
Gamma-Heavy Chain Disease
Neoplasm of the tongue, Hepatomegaly, Lymphadenopathy, Abnormal lymphocyte morphology, Anemia, Sp... ORPHA:100026
Autoimmune Lymphoproliferative Syndrome, Type Iia
Increased B cell count, Hepatomegaly, Elevated proportion of CD4-negative, CD8-negative, alpha-be... OMIM:603909
Immunodeficiency 85 And Autoimmunity
Eczema, Erythroderma, Oligoarthritis, Reduced natural killer cell count, Decreased proportion of ... OMIM:619510
Reese Retinal Dysplasia
Remnants of the hyaloid vascular system, Retinal dysplasia OMIM:266400
Ghosal Hematodiaphyseal Dysplasia
Anemia, Splenomegaly ORPHA:1802
Anemia, Congenital Dyserythropoietic, Type Ia
Prolonged neonatal jaundice, Erythroid hyperplasia, Splenomegaly, Anisocytosis, Poikilocytosis, R... OMIM:224120
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Hepatomegaly, Eczema, Psoriasiform dermatitis, Bronchiectasis, Lymphadenopathy, Arthritis, Spleno... OMIM:616100
Classic Hodgkin Lymphoma
Hepatomegaly, Lymphadenopathy, Pruritus, Bone marrow hypocellularity, Neoplasm, Lymphoma, Splenom... ORPHA:391
Sickle Cell Anemia
Leukocytosis, Abnormality of the spleen, Thrombocytosis, Increased mean corpuscular volume, Iron ... ORPHA:232
Mycosis Fungoides
Neoplasm of the skin, Eczema, Psoriasiform dermatitis, Lymphadenopathy, Pruritus, Lymphoma OMIM:254400
Immunodeficiency 25
Erythroderma, Recurrent pneumonia, Eosinophilia, T lymphocytopenia, Autoimmune hemolytic anemia OMIM:610163
Autoimmune Lymphoproliferative Syndrome
Hepatomegaly, Elevated proportion of CD4-negative, CD8-negative, alpha-beta regulatory T cells, F... OMIM:601859
Myelofibrosis
Myeloproliferative disorder, Splenomegaly OMIM:254450
Juvenile Temporal Arteritis
Leukocytosis, Eosinophilia, Allergic rhinitis, Conjunctivitis ORPHA:26137
Li-Fraumeni Syndrome
Adrenocortical carcinoma, Prostate neoplasm, Choriocarcinoma, Acute leukemia, Lung adenocarcinoma... OMIM:151623
Pfapa Syndrome
Hepatomegaly, Infectious encephalitis, Lymphadenopathy, Arthritis, Splenomegaly ORPHA:42642
Juvenile Arthritis
Thrombocytosis, Leukocytosis, Skin rash OMIM:618795
Anemia, Congenital Dyserythropoietic, Type Ii
Anemia of inadequate production, Cholelithiasis, Splenomegaly, Reticulocytosis, Jaundice OMIM:224100
Acute Myelomonocytic Leukemia
Leukocytosis, Eosinophilia, Anemia, Thrombocytopenia ORPHA:517
Cyclic Neutropenia
Sinusitis, Enterocolitis, Peritonitis, Lymphadenopathy, Periodontitis, Perianal abscess, Otitis m... ORPHA:2686
Caspase 8 Deficiency
Eczema, Pneumonia, Lymphadenopathy, Splenomegaly, Decreased CD4:CD8 ratio OMIM:607271
Red Cell Phospholipid Defect With Hemolysis
Reticulocytosis, Intermittent jaundice, Splenomegaly OMIM:179700
Bone Marrow Failure Syndrome 2
Thrombocytopenia, Anemia, Bone marrow hypocellularity, Leukopenia OMIM:615715
Adenocarcinoma Of The Esophagus
Lymphadenopathy, Barrett esophagus, Esophageal carcinoma ORPHA:99976
Primary Myelofibrosis
Leukocytosis, Thrombocytosis, Hepatomegaly, Lymphadenopathy, Hemangioma, Anemia, Splenomegaly, He... ORPHA:824
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Brain abscess, Abnormality of the lymphatic system, Anemia, Abnormality of the lymph nodes, Abnor... ORPHA:54251
Gray Platelet Syndrome
Thrombocytopenia, Myelodysplasia, Splenomegaly ORPHA:721
Reticular Dysgenesis
Leukopenia, Chronic otitis media, Anemia, Skin rash, Aplasia/Hypoplasia of the thymus, Abnormalit... ORPHA:33355
Pancytopenia And Occlusive Vascular Disease
Pancytopenia, Thrombocytopenia, Anemia, Leukopenia OMIM:167850
Aicardi-Goutieres Syndrome 3
Chilblains, Thrombocytopenia, Hepatosplenomegaly OMIM:610329
Leishmaniasis
Hepatomegaly, Leukopenia, Lymphadenopathy, Rhinitis, Anemia, Splenomegaly, Abnormal macrophage mo... ORPHA:507
Immunodeficiency 17
Eczema, Recurrent otitis media, Decreased proportion of CD8-positive T cells, Autoimmune hemolyti... OMIM:615607
Fanconi Anemia, Complementation Group D1
T-cell acute lymphoblastic leukemias, Acute myeloid leukemia, Bone marrow hypocellularity OMIM:605724
Simple Cryoglobulinemia
Chronic lymphatic leukemia, Pericarditis, Multiple myeloma, Monoclonal immunoglobulin M proteinem... ORPHA:91139
Nut Midline Carcinoma
Neuroblastoma, Pancreatic squamous cell carcinoma, Leukemia, Pancreatoblastoma, Oropharyngeal squ... ORPHA:443167
Dohle Bodies And Leukemia
Acute myeloid leukemia, Anemia, Leukocyte inclusion bodies OMIM:223350
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Hepatomegaly, Anemia, Splenomegaly, Hypersplenism, Thrombocytopenia OMIM:610539
Leukemia, Acute Lymphoblastic
Acute lymphoblastic leukemia OMIM:613065
Leukemia, Acute Monocytic
Acute monocytic leukemia OMIM:151380
Leukemia, Acute Myeloid
Acute myeloid leukemia OMIM:601626
Leukemia, Acute, X-Linked
Acute leukemia OMIM:308960
Refractory Anemia With Excess Blasts
Leukocytosis, Abnormal mean corpuscular volume, Bone marrow hypocellularity, Multiple lineage mye... ORPHA:86839
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Hepatomegaly, Hypochromia, Erythroid hyperplasia, Elevated hepatic iron concentration, Anemia, Sp... OMIM:616860
Felty Syndrome
Sinusitis, Hepatomegaly, Neutropenia, Pericarditis, Episcleritis, Synovitis, Lymphadenopathy, Chr... ORPHA:47612
Encephalopathy Due To Prosaposin Deficiency
Hepatomegaly, Splenomegaly ORPHA:139406
Neurofibromatosis Type 1
Neoplasm of the skin, Astrocytoma, Meningioma, Plexiform neurofibroma, Spinal neurofibromas, Neop... ORPHA:636
Immunodeficiency 11B With Atopic Dermatitis
Atopic dermatitis, Eosinophilia, Pneumonia OMIM:617638
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant
Abnormally low T cell receptor excision circle level, Pneumonia, T lymphocytopenia, Atopic dermat... OMIM:618806
Platelet Disorder, Familial, With Associated Myeloid Malignancy
Neuroblastoma, Myelodysplasia, Abnormal dense granule content, Lymphoma, Acute myeloid leukemia, ... OMIM:601399
Ceroid storage disease
Abnormality of the spleen OMIM:214200
Osteopetrosis, Autosomal Recessive 8
Thrombocytopenia, Anemia, Hepatomegaly, Splenomegaly OMIM:615085
Niemann-Pick Disease, Type B
Hepatomegaly, Bone-marrow foam cells, Sea-blue histiocytosis, Splenomegaly OMIM:607616
Systemic-Onset Juvenile Idiopathic Arthritis
Hepatomegaly, Pericarditis, Lymphadenopathy, Anterior uveitis, Splenomegaly, Juvenile rheumatoid ... ORPHA:85414
Hyper-Ige Recurrent Infection Syndrome 3, Autosomal Recessive
Atopic dermatitis, Eczema, Bronchiectasis, Pruritus, Recurrent otitis media, Chronic mucocutaneou... OMIM:618282
Polycythemia Vera
Thrombocytosis, Leukocytosis, Increased red blood cell mass, Splenomegaly, Increased hematocrit, ... OMIM:263300
Carcinoma Of Esophagus
Lymphadenopathy, Barrett esophagus, Esophageal neoplasm ORPHA:70482
Dehydrated Hereditary Stomatocytosis 2
Hepatomegaly, Anisopoikilocytosis, Increased mean corpuscular volume, Acanthocytosis, Splenomegal... OMIM:616689
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis
Hepatomegaly, Allergic rhinitis, Anemia, Splenomegaly, Jaundice, Skin rash, Exocrine pancreatic i... OMIM:612714
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Lymphadenopathy, Hepatomegaly, Eczema OMIM:615895
Familial Papillary Thyroid Carcinoma With Renal Papillary Neoplasia
Renal oncocytoma, Papillary thyroid carcinoma, Renal cortical adenoma, Abnormality of the lymph n... ORPHA:97290
Erythrocytosis, Familial, 8
Normocytic anemia, Polycythemia, Normochromic anemia, Cholelithiasis, Splenomegaly, Nonspherocyti... OMIM:222800
Desmoplastic Small Round Cell Tumor
Hepatomegaly, Ovarian neoplasm, Neoplasm of the central nervous system, Mediastinal lymphadenopat... ORPHA:83469
B-Cell Expansion With Nfkb And T-Cell Anergy
Increased B cell count, Splenomegaly OMIM:616452
Immunodeficiency 32B
Sinusitis, Bronchiectasis, Pneumonia, Splenomegaly OMIM:226990
Immunodeficiency With Hyper-Igm, Type 3
Neutropenia, Absence of lymph node germinal center OMIM:606843
Cold Agglutinin Disease
Lymphadenopathy, Hepatomegaly, Hemolytic anemia, Splenomegaly ORPHA:56425
Heme Oxygenase 1 Deficiency
Thrombocytosis, Hepatomegaly, Asplenia, Coombs-positive hemolytic anemia, Lymphadenopathy, Nephri... OMIM:614034
Anemia, Sideroblastic, 5
Reduced hematocrit, Neutropenia, Hypochromic microcytic anemia, Anemia, Thrombocytopenia, Refract... OMIM:619523
Nephronophthisis
Anemia ORPHA:655
Overhydrated Hereditary Stomatocytosis
Stomatocytosis, Abnormal mean corpuscular volume, Splenomegaly, Anisocytosis, Reticulocytosis, He... ORPHA:3203
Felty Syndrome
Rheumatoid arthritis, Neutropenia, Splenomegaly OMIM:134750
Hypertriglyceridemia, Transient Infantile
Hepatic steatosis, Hepatomegaly, Hepatic fibrosis, Splenomegaly OMIM:614480
Adult-Onset Still Disease
Myocarditis, Leukocytosis, Hepatomegaly, Pericarditis, Pruritus, Hepatitis, Bone marrow hypocellu... ORPHA:829
Combined Immunodeficiency Due To Partial Rag1 Deficiency
B lymphocytopenia, Interstitial pneumonitis, Neutropenia in presence of anti-neutropil antibodies... ORPHA:231154
Pyoderma Gangrenosum
Inflammation of the large intestine, Myelodysplasia, Pustule, Myositis, Rheumatoid arthritis, Mye... ORPHA:48104
Hypopigmentation, Organomegaly, And Delayed Myelination And Development
Hepatomegaly, Splenomegaly OMIM:618541
Cyanosis, Transient Neonatal
Hepatomegaly, Methemoglobinemia, Anemia, Reticulocytosis, Jaundice OMIM:613977
Thymoma
Prostate neoplasm, Imbalanced hemoglobin synthesis, Neoplasm of the lung, Neoplasia of the pleura... ORPHA:99867
X-Linked Sideroblastic Anemia
Anemia, Splenomegaly ORPHA:75563
Lig4 Syndrome
Leukocytosis, Hepatomegaly, Acute leukemia, Lymphadenopathy, Lymphoma, Pancytopenia ORPHA:99812
Immunodeficiency, Common Variable, 8, With Autoimmunity
Inflammation of the large intestine, Lymphadenopathy, Splenomegaly, Uveitis, Pancytopenia, Conjun... OMIM:614700
Stormorken-Sjaastad-Langslet Syndrome
Anemia, Asplenia ORPHA:3204
Congenital Toxoplasmosis
Hepatomegaly, Ascites, Lymphadenopathy, Anemia, Cardiomegaly, Thrombocytopenia, Jaundice ORPHA:858
Congenital Amegakaryocytic Thrombocytopenia
Thrombocytopenia, Anemia, Abnormal hemoglobin ORPHA:3319
Immunodeficiency 68
B lymphocytopenia, Lymphadenitis, Abscess, Septic arthritis, Recurrent skin infections, T lymphoc... OMIM:612260
Bone Marrow Failure Syndrome 4
Eczema, Leukopenia, Anemia, Bone marrow hypocellularity, Thrombocytopenia OMIM:618116
Isobutyryl-Coa Dehydrogenase Deficiency
Anemia OMIM:611283
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
B lymphocytopenia, Neutropenia, Leukopenia, Bronchiectasis, Lymphadenitis, Recurrent otitis media... OMIM:618986
Tyrosinemia Type 1
Hepatomegaly, Hepatocellular carcinoma, Splenomegaly ORPHA:882
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency
Normocytic anemia, Normochromic anemia, Cholelithiasis, Splenomegaly, Nonspherocytic hemolytic an... OMIM:235700
Rhabdoid Tumor
Neoplasm of the central nervous system, Lymphadenopathy, Anemia, Neoplasm of the liver, Sarcoma, ... ORPHA:69077
Hemochromatosis, Type 2B
Hepatomegaly, Hepatic fibrosis, Anemia, Splenomegaly, Cirrhosis OMIM:613313
Idiopathic Hypereosinophilic Syndrome
Cholangitis, Eczema, Portal fibrosis, Splenomegaly, Hepatosplenomegaly, Eosinophilia, Inflammator... ORPHA:3260
Amyloidosis, Familial Visceral
Hepatomegaly, Cholestasis, Skin rash, Splenomegaly OMIM:105200
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Leukemia, Nephroblastoma, Meningioma OMIM:602501
Deafness, Autosomal Dominant 34, With Or Without Inflammation
Lymphadenopathy, Arthritis, Conjunctivitis OMIM:617772
Kaposi Sarcoma
Abnormality of the spleen, Neoplasm of the skin, Lymphoproliferative disorder, Hemangioma, Abnorm... ORPHA:33276
Proteasome-Associated Autoinflammatory Syndrome 3
Sinusitis, Hepatomegaly, Myositis, Lymphadenopathy, Panniculitis, Anemia, Arthritis, Splenomegaly... OMIM:617591
Thrombocytopenia, Anemia, And Myelofibrosis
Thrombocytopenia, Anisopoikilocytosis, Anemia, Splenomegaly OMIM:617441
Copper Deficiency, Familial Benign
Seborrheic dermatitis, Anemia OMIM:121270
Griscelli Syndrome Type 2
Hepatomegaly, Neutropenia, Lymphadenopathy, Splenomegaly, Pancytopenia, Hemophagocytosis, Jaundice ORPHA:79477
Spherocytosis, Type 5
Splenomegaly, Spherocytosis, Reticulocytosis, Hemolytic anemia, Jaundice OMIM:612690
Ichthyosis, Congenital, Autosomal Recessive 5
Acanthocytosis, Erythroderma OMIM:604777
Aicardi-Goutières Syndrome
Chronic lymphatic leukemia, Myositis, Panniculitis, Cardiomegaly, Arthritis, Hepatosplenomegaly, ... ORPHA:51
Macrophage Activation Syndrome
Hepatomegaly, Neutropenia, Lymphadenopathy, Hepatitis, Anemia, Splenomegaly, Increased inflammato... ORPHA:158061
Granulomatous Disease, Chronic, Autosomal Recessive, 1
Hepatomegaly, Eczematoid dermatitis, Lymphadenopathy, Lymphadenitis, Discoid lupus rash, Splenome... OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2
Hepatomegaly, Eczematoid dermatitis, Lymphadenopathy, Lymphadenitis, Discoid lupus rash, Splenome... OMIM:233710
Immunodeficiency 54
Hepatomegaly, Lymphoproliferative disorder, Lymphadenopathy, Splenomegaly, Reduced natural killer... OMIM:609981
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia
Inflammation of the large intestine, Decreased mean platelet volume, Lymphadenopathy, Lymphocytos... OMIM:617718
Neonatal Severe Primary Hyperparathyroidism
Hepatomegaly, Splenomegaly ORPHA:417
Proteasome-Associated Autoinflammatory Syndrome 4
Hepatomegaly, Myositis, Lymphadenopathy, Panniculitis, Splenomegaly, Autoimmune hemolytic anemia OMIM:619183
Familial Papillary Or Follicular Thyroid Carcinoma
Papillary thyroid carcinoma, Abnormality of the lymph nodes, Follicular thyroid carcinoma, Chroni... ORPHA:319487
Delta-Beta-Thalassemia
Microcytic anemia, Anemia, Abnormal hemoglobin ORPHA:231237
Fanconi Anemia, Complementation Group T
Pancytopenia, Thrombocytopenia, Anemia, Bone marrow hypocellularity OMIM:616435
Roifman Syndrome
Hepatomegaly, Eczema, Lymphadenopathy, Recurrent otitis media, Splenomegaly, Recurrent pneumonia,... OMIM:616651
Cinca Syndrome
Leukocytosis, Hepatomegaly, Lymphadenopathy, Retrobulbar optic neuritis, Anemia, Abnormal granulo... ORPHA:1451
Glutamate-Cysteine Ligase Deficiency
Reticulocytosis, Hepatosplenomegaly, Hemolytic anemia, Jaundice ORPHA:33574
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Leukocytosis, Prolonged neonatal jaundice, Heinz bodies, Splenomegaly, Fava bean-induced hemolyti... OMIM:300908
Cholestasis-Lymphedema Syndrome
Hepatomegaly, Splenomegaly, Cirrhosis, Neonatal cholestatic liver disease, Erysipelas, Jaundice OMIM:214900
Cryohydrocytosis
Stomatocytosis, Hemolytic anemia, Reticulocytosis, Splenomegaly OMIM:185020
Majeed Syndrome
Inflammatory abnormality of the skin, Leukocytosis, Hepatomegaly, Abnormal inflammatory response,... ORPHA:77297
Osteopetrosis, Autosomal Recessive 4
Hepatomegaly, Anemia, Splenomegaly, Hepatosplenomegaly, Reticulocytosis, Thrombocytopenia OMIM:611490
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia
Thrombocytosis, Macrocytic anemia, Eczema, Megaloblastic anemia, Septic arthritis, Recurrent pneu... OMIM:617780
Shwachman-Diamond Syndrome
Sinusitis, Eczema, Neutropenia, Pancreatic hypoplasia, Leukemia, Pancytopenia, Myelodysplasia, Bo... ORPHA:811
Sea-Blue Histiocytosis
Hepatomegaly, Mediastinal lymphadenopathy, Splenomegaly, Thrombocytopenia, Blepharitis, Sea-blue ... ORPHA:158029
T-Cell Lymphoma, Subcutaneous Panniculitis-Like
Panniculitis, Anemia, Splenomegaly, Pancytopenia, Hemophagocytosis OMIM:618398
Cernunnos-Xlf Deficiency
B lymphocytopenia, Anemia, Lymphopenia, Thrombocytopenia, T lymphocytopenia ORPHA:169079
Congenital Bile Acid Synthesis Defect Type 1
Hepatomegaly, Pruritus, Splenomegaly, Cirrhosis, Neonatal cholestatic liver disease, Biliary trac... ORPHA:79301
Hyper-Ige Recurrent Infection Syndrome 5, Autosomal Recessive
Atopic dermatitis, Decreased proportion of class-switched memory B cells, Recurrent otitis media,... OMIM:618944
Granulomatous Disease, Chronic, X-Linked
Hepatomegaly, Eczematoid dermatitis, Lymphadenopathy, Lymphadenitis, Discoid lupus rash, Splenome... OMIM:306400
Granulomatous Disease, Chronic, Autosomal Recessive, 4
Hepatomegaly, Eczematoid dermatitis, Lymphadenopathy, Lymphadenitis, Discoid lupus rash, Splenome... OMIM:233690
Galactose Epimerase Deficiency
Jaundice, Hepatomegaly, Splenomegaly ORPHA:79238
Hb Bart'S Hydrops Fetalis
Hepatomegaly, Pericarditis, Anemia, Abnormal hemoglobin, Splenomegaly ORPHA:163596
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Absent tonsils, Hepatomegaly, Decreased proportion of naive T cells, Pneumonia, Lymph node hypopl... ORPHA:276
Boutonneuse Fever
Leukopenia, Lymphadenopathy, Maculopapular exanthema, Skin rash, Cervical lymphadenopathy, Thromb... ORPHA:83313
Beta-Thalassemia
Hepatomegaly, Hepatitis, Anemia, Abnormal hemoglobin, Cholelithiasis, Splenomegaly, Microcytic an... ORPHA:848
Ollier Disease
Hemangioma, Visceral angiomatosis, Lymphangioma, Anemia, Neoplasm, Chondrosarcoma, Sarcoma, Multi... ORPHA:296
Immunodeficiency 46
Neutropenia, Chronic oral candidiasis, Anemia, Intermittent thrombocytopenia, Conjunctivitis OMIM:616740
Galactosemia Iii
Jaundice, Hepatomegaly, Splenomegaly OMIM:230350
Severe Combined Immunodeficiency, X-Linked
Hepatomegaly, Impaired lymphocyte transformation with phytohemagglutinin, Pneumonia, Hypoplasia o... OMIM:300400
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome
Remnants of the hyaloid vascular system, Posterior lenticonus, Chorioretinal coloboma, Iris coloboma ORPHA:231736
Mismatch Repair Cancer Syndrome 1
Neuroblastoma, Astrocytoma, Plexiform neurofibroma, Adenocarcinoma of the small intestine, Adenom... OMIM:276300
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss
Hepatic fibrosis, Pruritus, Splenomegaly, Cholestasis, Hepatic bridging fibrosis, Jaundice OMIM:619658
Immunodeficiency 91 And Hyperinflammation
Hepatomegaly, Monocytosis, Lymphadenopathy, Neutrophilia, Hepatosplenomegaly, Recurrent pneumonia... OMIM:619644
Hyper-Igd Syndrome
Leukocytosis, Lymphadenopathy, Lymphadenitis, Chronic oral candidiasis, Arthritis, Splenomegaly, ... OMIM:260920
Bullous Impetigo
Abnormality of the lymphatic system, Recurrent bacterial skin infections, Pustule, Septic arthritis ORPHA:36237
Hyper-Ige Recurrent Infection Syndrome 2, Autosomal Recessive
Atopic dermatitis, Eosinophilia, Eczema, Neoplasm OMIM:243700
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency
Cholelithiasis, Pigment gallstones, Splenomegaly, Impaired neutrophil bactericidal activity, Nons... OMIM:613470
Spherocytosis, Type 4
Splenomegaly, Spherocytosis, Reticulocytosis, Hemolytic anemia, Jaundice OMIM:612653
Ovarian Dysgenesis 2
Abnormality of the uterus, Premature ovarian insufficiency, Hypergonadotropic hypogonadism, Gonad... OMIM:300510
Granulomatous Slack Skin
Lymphoma, Hodgkin lymphoma, Abnormality of the lymph nodes ORPHA:33111
Chronic Actinic Dermatitis
Late onset atopic dermatitis, Eczema, Allergic rhinitis, Erythroderma, Actinic keratosis, Pruritus ORPHA:330064
Spherocytosis, Type 2
Acanthocytosis, Splenomegaly, Spherocytosis, Reticulocytosis, Hemolytic anemia, Jaundice OMIM:616649
Roifman Syndrome
Eczema, Lymphadenopathy, Recurrent otitis media, Hepatosplenomegaly, Recurrent pneumonia, Eosinop... ORPHA:353298
Pachydermoperiostosis
Hepatomegaly, Neoplasm of the skin, Neoplasm of the lung, Eczematoid dermatitis, Seborrheic derma... ORPHA:2796
Poikiloderma With Neutropenia
Neutropenia, Recurrent otitis media, Splenomegaly, Recurrent pneumonia, Blepharitis, Recurrent si... OMIM:604173
Netherton Syndrome
Hypereosinophilia, Erythroderma, Allergic rhinitis OMIM:256500
Osteopetrosis, Autosomal Dominant 3
Hepatomegaly, Anemia, Splenomegaly OMIM:618107
Storage Pool Platelet Disease
Decreased mean platelet volume, Myelodysplasia, Acute leukemia OMIM:185050
Familial Reactive Perforating Collagenosis
Inflammatory abnormality of the skin, Pruritus, Perifolliculitis, Maculopapular exanthema, Crusti... ORPHA:79147
Immunodeficiency 10
Lymphadenopathy, Thrombocytopenia, Kaposi's sarcoma, Autoimmune hemolytic anemia OMIM:612783
Fish-Eye Disease
Lymphadenopathy, Hepatomegaly, Splenomegaly ORPHA:79292
Thrombocythemia 1
Thrombocytosis, Splenomegaly OMIM:187950
Autoinflammation, Immune Dysregulation, And Eosinophilia
Atopic dermatitis, Membranous nephropathy, Hepatic cysts, Colonic eosinophilia, Hepatosplenomegal... OMIM:618999
Testicular Regression Syndrome
Abnormal morphology of female internal genitalia, Absent testis, Agonadism, Abnormality of male i... ORPHA:983
Waldenström Macroglobulinemia
Hepatomegaly, Normocytic anemia, Leukemia, Lymphadenopathy, Monoclonal immunoglobulin M proteinem... ORPHA:33226
Overhydrated Hereditary Stomatocytosis
Hepatomegaly, Stomatocytosis, Splenomegaly, Reticulocytosis, Hemolytic anemia, Jaundice OMIM:185000
Polycythemia Vera
Hepatomegaly, Myelodysplasia, Acute leukemia, Pruritus, Splenomegaly, Portal hypertension ORPHA:729
Griscelli Syndrome
Hepatomegaly, Leukopenia, Ascites, Lymphadenopathy, Hepatitis, Bone marrow hypocellularity, Splen... ORPHA:381
Neonatal Lupus Erythematosus
Hemolytic anemia, Hepatomegaly, Neutropenia, Anemia, Splenomegaly, Abnormality of the liver, Mala... ORPHA:398124
Gaucher Disease, Type Ii
Hepatomegaly, Recurrent aspiration pneumonia, Anemia, Splenomegaly, Thrombocytopenia OMIM:230900
Thrombocytopenia With Beta-Thalassemia, X-Linked
Reticulocytosis, Thrombocytopenia, Hemolytic anemia, Splenomegaly OMIM:314050
Autoinflammation With Infantile Enterocolitis
Anemia, Splenomegaly, Reduced natural killer cell count, Skin rash, Enterocolitis, Pancytopenia, ... OMIM:616050
Verrucous Hemangioma
Hemangioma, Inflammatory abnormality of the skin, Papilloma ORPHA:464318
Autoimmune Lymphoproliferative Syndrome
Neoplasm of the skin, Thyroid carcinoma, Elevated proportion of CD4-negative, CD8-negative, alpha... ORPHA:3261
Premature Ovarian Failure 3
Premature ovarian insufficiency, Hypoplasia of the uterus OMIM:608996
Bone Marrow Failure Syndrome 6
Neutropenia, Increased mean corpuscular volume, Anemia, Bone marrow hypocellularity, Persistence ... OMIM:618849
Immunodeficiency 14B, Autosomal Recessive
Thrombocytosis, Leukocytosis, B lymphocytopenia, Inflammation of the large intestine, Monocytosis... OMIM:619281
Biotinidase Deficiency
Hepatomegaly, Seborrheic dermatitis, Splenomegaly, Recurrent skin infections, Skin rash, Conjunct... OMIM:253260
Wiskott-Aldrich Syndrome 2
Thrombocytopenia, Eczema, Decreased proportion of CD8-positive T cells OMIM:614493
Diamond-Blackfan Anemia 9
Anemia OMIM:613308
Autoinflammatory Syndrome, Familial, Behcet-Like
Colitis, Anterior uveitis, Lymphopenia, Skin rash, Thrombocytopenia, Hemolytic anemia OMIM:616744
Aicardi-Goutieres Syndrome 7
Atopic dermatitis, Thrombocytopenia, Hepatomegaly, Splenomegaly OMIM:615846
Asplenia, Isolated Congenital
Thrombocytosis, Howell-Jolly bodies, Asplenia OMIM:271400
Spherocytosis, Type 1
Cholelithiasis, Splenomegaly, Spherocytosis, Reticulocytosis, Hemolytic anemia, Jaundice OMIM:182900
Diamond-Blackfan Anemia 16
Anemia OMIM:617408
Autoinflammation, Panniculitis, And Dermatosis Syndrome
Leukocytosis, Increased proportion of CD4-positive T cells, Lymphadenopathy, Panniculitis, Neutro... OMIM:617099
Progressive Familial Intrahepatic Cholestasis
Hepatomegaly, Neoplasm, Splenomegaly, Cholestasis, Jaundice ORPHA:172
Hereditary Spherocytosis
Hepatomegaly, Anemia, Cholelithiasis, Gout, Splenomegaly, Extramedullary hematopoiesis, Increased... ORPHA:822
Common Variable Immunodeficiency
Gastrointestinal stroma tumor, Pneumonia, Bronchiectasis, Lymphadenopathy, Chronic otitis media, ... ORPHA:1572
X-Linked Agammaglobulinemia
Sinusitis, Neutropenia, Recurrent cutaneous abscess formation, Chronic otitis media, Abnormality ... ORPHA:47
T-Cell Immunodeficiency With Thymic Aplasia
Abnormal T cell morphology, Eczematoid dermatitis, Pyoderma, Bronchiectasis, Aplasia of the thymu... OMIM:242700
Good Syndrome
Sinusitis, Mediastinal lymphadenopathy, Bronchiectasis, Anemia, Recurrent skin infections, Thymom... ORPHA:169105
Selective Igm Deficiency
Thyroid carcinoma, Non-infectious meningitis, Neutropenia in presence of anti-neutropil antibodie... ORPHA:331235
Pityriasis Rubra Pilaris
Eczema, Erythroderma, Pustule, Pruritus, Neoplasm ORPHA:2897
Portal Hypertension, Noncirrhotic, 1
Hepatomegaly, Portal hypertension, Splenomegaly OMIM:617068
Combined Immunodeficiency Due To Crac Channel Dysfunction
Hepatomegaly, Pneumonia, Lymphadenopathy, Chronic otitis media, Neoplasm, Splenomegaly, Thrombocy... ORPHA:169090
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Hepatomegaly, Neutropenia, Anemia, Pancreatitis, Splenomegaly, Thrombocytopenia ORPHA:79312
Immunodeficiency, Common Variable, 12, With Autoimmunity
Bronchiectasis, Recurrent skin infections, Recurrent pneumonia, Thrombocytopenia, Recurrent sinus... OMIM:616576
Hepatoportal Sclerosis
Leukopenia, Hepatocellular carcinoma, Ascites, Pruritus, Anemia, Nodular regenerative hyperplasia... ORPHA:64743
Immunodeficiency With Hyper-Igm, Type 1
Hepatomegaly, Neutropenia, Stomatitis, Chronic hepatitis, Sclerosing cholangitis, Hepatitis, Sple... OMIM:308230