Gene Summary

Name:
actin related protein 2/3 complex, subunit 1B
Synonyms:
SOP2Hs,  p41-ARC,  L72

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
decreased mature NK cell number Arpc1btm1a(EUCOMM)Wtsi HOM   Early adult 0.00
decreased Ly6C-positive mature NK cell number Arpc1btm1a(EUCOMM)Wtsi HOM   Early adult 0.00
fusion of vertebral arches Arpc1btm1a(EUCOMM)Wtsi HOM Early adult 3.70×10-05
decreased NK cell number Arpc1btm1a(EUCOMM)Wtsi HOM   Early adult 0.00
increased mean platelet volume Arpc1btm1a(EUCOMM)Wtsi HOM   Early adult 1.73×10-05
increased CD4-positive, alpha-beta memory T cell number Arpc1btm1a(EUCOMM)Wtsi HOM Early adult 0.00
decreased body length Arpc1btm1a(EUCOMM)Wtsi HOM Early adult 2.79×10-06
increased KLRG1-positive T-helper cell number Arpc1btm1a(EUCOMM)Wtsi HOM   Early adult 0.00
increased CD103-positive CD11b-low dendritic cell number Arpc1btm1a(EUCOMM)Wtsi HOM   Early adult 0.00
increased red blood cell distribution width Arpc1btm1a(EUCOMM)Wtsi HOM Early adult 9.14×10-11
thrombocytosis Arpc1btm1a(EUCOMM)Wtsi HOM Early adult 8.11×10-05
vertebral fusion Arpc1btm1a(EUCOMM)Wtsi HOM Early adult 1.10×10-05
decreased KLRG1-positive NK cell number Arpc1btm1a(EUCOMM)Wtsi HOM   Early adult 0.00
increased circulating total protein level Arpc1btm1a(EUCOMM)Wtsi HOM Early adult 1.54×10-06
increased immature NK cell number Arpc1btm1a(EUCOMM)Wtsi HOM   Early adult 0.00
decreased circulating alkaline phosphatase level Arpc1btm1a(EUCOMM)Wtsi HOM Early adult 5.58×10-05
decreased CD4-positive, alpha beta T cell number Arpc1btm1a(EUCOMM)Wtsi HOM Early adult 0.00
increased memory CD4-positive, CD25-positive, alpha-beta regulatory T cell number Arpc1btm1a(EUCOMM)Wtsi HOM   Early adult 0.00
increased circulating calcium level Arpc1btm1a(EUCOMM)Wtsi HOM Early adult 6.15×10-06
increased plasma cell number Arpc1btm1a(EUCOMM)Wtsi HOM   Early adult 0.00
decreased circulating fructosamine level Arpc1btm1a(EUCOMM)Wtsi HOM Early adult 1.84×10-13
increased KLRG1-positive CD4-positive, CD25-positive, alpha-beta regulatory T cell number Arpc1btm1a(EUCOMM)Wtsi HOM   Early adult 0.00
increased CD4-positive, CD25-positive, alpha-beta regulatory T cell number Arpc1btm1a(EUCOMM)Wtsi HOM   Early adult 0.00
increased memory-marker NK cell number Arpc1btm1a(EUCOMM)Wtsi HOM   Early adult 0.00
decreased circulating serum albumin level Arpc1btm1a(EUCOMM)Wtsi HOM   Early adult 5.84×10-05
increased memory-marker CD4-negative NK T cell number Arpc1btm1a(EUCOMM)Wtsi HOM   Early adult 0.00
increased leukocyte cell number Arpc1btm1a(EUCOMM)Wtsi HOM Early adult 1.21×10-10
decreased marginal zone precursor B cell number Arpc1btm1a(EUCOMM)Wtsi HOM   Early adult 0.00
increased KLRG1+ CD4 alpha beta T cell number Arpc1btm1a(EUCOMM)Wtsi HOM Early adult 0.00
decreased mean corpuscular hemoglobin Arpc1btm1a(EUCOMM)Wtsi HOM Early adult 1.53×10-09
decreased macrophage cell number Arpc1btm1a(EUCOMM)Wtsi HOM   Early adult 0.00
increased effector memory T-helper cell number Arpc1btm1a(EUCOMM)Wtsi HOM   Early adult 0.00
decreased transitional stage T2 B cell number Arpc1btm1a(EUCOMM)Wtsi HOM   Early adult 0.00

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lacZ Expression

Expression data not available

Associated Images

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

Mesenteric Lymph Node Immunophenotyping

Images associated with FACS analysis

24 Images

X-ray

XRay Images Forepaw

16 Images

X-ray

XRay Images Whole Body Dorso Ventral

17 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

16 Images

Spleen Immunophenotyping

Images associated with FACS analysis

46 Images

DSS Histology

Images

8 Images

Anti-nuclear antibody assay

Images

3 Images

X-ray

XRay Images Skull Lateral Orientation

17 Images

X-ray

XRay Images Whole Body Lateral Orientation

17 Images

Eye Morphology

Images Slit Lamp

1 Images

Histopathology

Images

9 Images

Eye Morphology

Images Ophthalmoscopy

1 Images

Ear epidermis immunophenotyping

Images

9 Images

Legacy Phenotype Associated Images

View all 69 images

Human diseases caused by Arpc1b mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

The table below shows human diseases associated to Arpc1b by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia
Thrombocytopenia, Lymphocytosis, Decreased mean platelet volume OMIM:617718

The table below shows human diseases predicted to be associated to Arpc1b by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Hemophagocytic Syndrome Associated With An Infection
Increased circulating ferritin concentration, Neutropenia, Abnormal T cell subset distribution, H... ORPHA:158048
Immunodeficiency 69
Increased circulating ferritin concentration, Leukocytosis, Splenomegaly, Hepatosplenomegaly, Thr... OMIM:618963
Dysplasia Of Head Of Femur, Meyer Type
Multicentric femoral head ossification, Leukocytosis, Lower limb pain, Congenital hip dislocation... ORPHA:168621
Immunodeficiency 105
Lymphopenia, Hepatosplenomegaly, B lymphocytopenia, T lymphocytopenia, Impaired lymphocyte transf... OMIM:619924
Autoinflammation With Infantile Enterocolitis
Increased circulating ferritin concentration, Elevated circulating C-reactive protein concentrati... OMIM:616050
Lymphoproliferative Syndrome 3
Hepatosplenomegaly, Reduced natural killer cell count OMIM:618261
Immunodeficiency 18
Lymphopenia, Decreased proportion of CD3-positive T cells OMIM:615615
Immunodeficiency 27A
Histiocytosis, Leukocytosis, Splenomegaly, Hepatosplenomegaly, Thrombocytosis, Hypoalbuminemia, S... OMIM:209950
Immunodeficiency 20
Reduced natural killer cell count OMIM:615707
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Increased circulating ferritin concentration, Neutropenia, Elevated circulating C-reactive protei... ORPHA:158057
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia
Megaloblastic anemia, Anemia of inadequate production, Lymphopenia, Macrocytic anemia, Thrombocyt... OMIM:617780
Juvenile Arthritis
Thrombocytosis, Leukocytosis OMIM:618795
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality
Anisocytosis, Leukopenia, Erythroid hypoplasia, Macrocytic anemia, Thrombocytosis, Bone marrow hy... ORPHA:86841
Immunodeficiency 102
Neutropenia in presence of anti-neutropil antibodies, Increased proportion of CD8-positive, alpha... OMIM:301082
Immunodeficiency 8
Lymphopenia OMIM:615401
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne
Elevated circulating C-reactive protein concentration, Sterile abscess, Hepatosplenomegaly, Arthr... OMIM:604416
Sickle Cell Anemia
Increased mean corpuscular volume, Avascular necrosis, Osteomyelitis, Leukocytosis, Hypochromic a... ORPHA:232
Immunodeficiency 14B, Autosomal Recessive
Neutrophilia, Leukocytosis, Monocytosis, B lymphocytopenia, Polyarticular arthritis, Thrombocytosis OMIM:619281
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)
Hypocalcemia, T lymphocytopenia DECIPHER:16
Immunodeficiency 103, Susceptibility To Fungal Infections
Abnormal proportion of CD8-positive T cells, Abnormal B cell count, Decreased serum iron, Hypereo... OMIM:212050
Acquired Idiopathic Sideroblastic Anemia
Anemia of inadequate production, Granulocytopenia, Neutropenia, Leukocytosis, Splenomegaly, Hypoc... ORPHA:75564
Immunodeficiency 97 With Autoinflammation
Increased circulating ferritin concentration, Neutropenia in presence of anti-neutropil antibodie... OMIM:619802
Immunodeficiency 40
Lymphopenia OMIM:616433
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Acute monocytic leukemia, Eosinophilia, Monocytosis, Congenital agranulocytosis, Thrombocytosis, ... OMIM:202700
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome
Lymphopenia, Hypoproteinemia ORPHA:1116
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Increased circulating ferritin concentration, Hypoplasia of the thymus, B lymphocytopenia, T lymp... OMIM:619313
Immunodeficiency 57 With Autoinflammation
Reduced natural killer cell count, Perianal abscess, B lymphocytopenia, T lymphocytopenia OMIM:618108
Congenital Amegakaryocytic Thrombocytopenia
Abnormal hemoglobin, Short neck, Scoliosis, Abnormal form of the vertebral bodies, Melanocytic ne... ORPHA:3319
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Increased circulating ferritin concentration, Splenomegaly, Anemia, Anisocytosis, Poikilocytosis,... ORPHA:766
Lymphangiectasia, Intestinal
Neonatal hypoproteinemia, Lymphopenia OMIM:152800
Lymphoproliferative Syndrome, X-Linked, 1
Neutropenia, Elevated circulating C-reactive protein concentration, Lymphocytosis, Hemophagocytos... OMIM:308240
Severe Combined Immunodeficiency Due To Foxn1 Deficiency
T lymphocytopenia ORPHA:169095
Thrombocytopenia 2
Thrombocytopenia, Leukocytosis OMIM:188000
Immunodeficiency 85 And Autoimmunity
Oligoarthritis, Lymphopenia, T lymphocytopenia, Decreased proportion of CD4-positive helper T cel... OMIM:619510
Macrophage Activation Syndrome
Increased circulating ferritin concentration, Elevated circulating C-reactive protein concentrati... ORPHA:158061
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive
Anemia, Elevated circulating C-reactive protein concentration, Leukocytosis OMIM:619398
Immunodeficiency 54
Hyperpigmentation of the skin, Reduced natural killer cell count, Splenomegaly OMIM:609981
Refractory Celiac Disease
Hypomagnesemia, Hypophosphatemia, Hypocalcemia, Hypoproteinemia, Increased proportion of HLA DR+ ... ORPHA:398063
Histiocytosis, Familial Lipochrome
Histiocytosis, Increased alpha-globulin, Polyarticular arthritis OMIM:235900
Immunodeficiency 19
Lymphopenia OMIM:615617
Aplasia Cutis Congenita With Intestinal Lymphangiectasia
Lymphopenia, Hypoproteinemia OMIM:207731
Thrombocythemia 3
Thrombocytosis OMIM:614521
Leishmaniasis
Splenomegaly, Leukopenia, Abnormal macrophage morphology, Hypoalbuminemia, Pancytopenia, Anemia, ... ORPHA:507
Polycythemia Vera
Increased hematocrit, Leukocytosis, Splenomegaly, Increased red blood cell mass, Thrombocytosis, ... OMIM:263300
Immunodeficiency 24
Reduced proportion of mucosal-associated invariant T cells, Decreased CD4:CD8 ratio, Lymphopenia,... OMIM:615897
Hyper-Ige Recurrent Infection Syndrome 4A, Autosomal Dominant
Lymphopenia, Joint hypermobility, Scoliosis, Increased susceptibility to fractures, Neutropenia, ... OMIM:619752
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss
Impaired epinephrine-induced platelet aggregation, Neutrophil inclusion bodies, Leukocyte inclusi... OMIM:155100
Omenn Syndrome
Hypoproteinemia, Splenomegaly, Eosinophilia, Hypoplasia of the thymus, Severe B lymphocytopenia, ... OMIM:603554
Thrombocythemia 2
Thrombocytosis OMIM:601977
Gaisböck Syndrome
Increased hematocrit, Elevated plasma cell count, Hyperproteinemia, Gout, Increased mean corpuscu... ORPHA:90041
Immunodeficiency 92
Osteomyelitis, Lymphocytosis, Leukocytosis, B lymphocytopenia, Thrombocytosis, Decreased proporti... OMIM:619652
Hemoglobin E-Beta-Thalassemia Syndrome
Increased circulating ferritin concentration, Anemia, Abnormal hemoglobin ORPHA:231249
Bleeding Disorder, Platelet-Type, 24
Impaired collagen-induced platelet aggregation, Impaired ristocetin-induced platelet aggregation,... OMIM:619271
Cernunnos-Xlf Deficiency
Lymphopenia, B lymphocytopenia, T lymphocytopenia, Anemia, Thrombocytopenia ORPHA:169079
Immunodeficiency 15A
Decreased proportion of CD8-positive T cells, Cutaneous abscess, Decreased proportion of CD4-posi... OMIM:618204
Multiple Myeloma
Bone pain, Splenomegaly, Osteopenia, Hyperproteinemia, Pathologic fracture, Elevated circulating ... ORPHA:29073
Bleeding Disorder, Platelet-Type, 16
Impaired platelet aggregation, Macrothrombocytopenia, Giant platelets, Platelet anisocytosis, Ane... OMIM:187800
Diffuse Neonatal Hemangiomatosis
Anemia, Thrombocytopenia, Hypercalcemia ORPHA:2123
Focal Segmental Glomerulosclerosis 1
Anemia, Hyperlipidemia, Hypoalbuminemia OMIM:603278
Platelet Glycoprotein Iv Deficiency
Thrombocytopenia, Giant platelets OMIM:608404
Chronic Myeloid Leukemia
Leukocytosis, Splenomegaly, Myeloproliferative disorder, Abnormal granulocyte morphology, Thrombo... ORPHA:521
Refractory Anemia With Excess Blasts
Bone pain, Anemia of inadequate production, Leukocytosis, Abnormal mean corpuscular volume, Abnor... ORPHA:86839
Enteropathy, Familial, With Villous Edema And Immunoglobulin G2 Deficiency
Hypoalbuminemia, Hypoproteinemia, Neutropenia OMIM:600351
Sting-Associated Vasculopathy, Infantile-Onset
Joint stiffness, Elevated circulating C-reactive protein concentration, Lymphopenia, Leukopenia, ... OMIM:615934
Hermansky-Pudlak Syndrome 2
Enlarged platelet dense granules, Fair hair, Ocular albinism, Splenomegaly, Generalized hypopigme... OMIM:608233
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Decreased glucose-6-phosphate dehydrogenase level in blood, Leukocytosis, Splenomegaly, Heinz bod... OMIM:300908
Slc35A1-Cdg
Thrombocytopenia, Abnormal platelet granules, Giant platelets, Neutropenia ORPHA:238459
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2
Elevated circulating C-reactive protein concentration, Lymphocytosis, Iron deficiency anemia, Art... OMIM:301074
Bleeding Disorder, Platelet-Type, 15
Increased mean platelet volume, Thrombocytopenia, Platelet anisocytosis OMIM:615193
Pelger-Huet Anomaly
Kyphosis, Hyposegmentation of neutrophil nuclei, Abnormality of neutrophils, Giant platelets, Neu... OMIM:169400
Fechtner syndrome
Leukocyte inclusion bodies, Thrombocytopenia, Neutrophil inclusion bodies, Giant platelets OMIM:153640
Giant platelet syndrome with thrombocytopenia
Thrombocytopenia, Giant platelets OMIM:137560
Myh9-Related Disease
Increased mean platelet volume, Congenital thrombocytopenia, Neutrophil inclusion bodies, Giant p... ORPHA:182050
Eosinophilic Gastroenteritis
Elevated circulating C-reactive protein concentration, Leukocytosis, Eosinophilia, Hypoalbuminemi... ORPHA:2070
Hemophagocytic Lymphohistiocytosis, Familial, 1
Increased circulating ferritin concentration, Hemophagocytosis, Splenomegaly, Hypoproteinemia, In... OMIM:267700
Aicardi-Goutieres Syndrome 2
Lymphocytosis OMIM:610181
Primary Intestinal Lymphangiectasia
Hypomagnesemia, Hypocalcemia, Lymphopenia, Hypoproteinemia, Reduced proportion of CD4+ effector m... ORPHA:90362
Sitosterolemia 1
Episodic hemolytic anemia, Splenomegaly, Reticulocytosis, Arthritis, Impaired platelet aggregatio... OMIM:210250
Primary Myelofibrosis
Leukocytosis, Splenomegaly, Extramedullary hematopoiesis, Hepatosplenomegaly, Thrombocytosis, Poi... ORPHA:824
Rhabdoid Tumor
Anemia, Thrombocytopenia, Hypercalcemia ORPHA:69077
Thrombocythemia 1
Impaired collagen-induced platelet aggregation, Impaired epinephrine-induced platelet aggregation... OMIM:187950
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes
T lymphocytopenia OMIM:242870
Hyper-Ige Recurrent Infection Syndrome 2, Autosomal Recessive
Eosinophilia, Decreased proportion of CD4-positive helper T cells, Reduced natural killer cell count OMIM:243700
Macrothrombocytopenia, Isolated, 2, Autosomal Dominant
Macrothrombocytopenia OMIM:619840
Hemoglobin D Disease
Decreased mean corpuscular volume, Abnormal hemoglobin, HbS hemoglobin, Splenomegaly, Reduced alp... ORPHA:90039
Anemia, Congenital Dyserythropoietic, Type Ib
Anemia of inadequate production, Splenomegaly, Anemia, Anisocytosis, Poikilocytosis, Reticulocyto... OMIM:615631
Hypophosphatasia
Recurrent fractures, Anemia, Hypercalcemia, Craniosynostosis ORPHA:436
Thrombocytopenia With Congenital Dyserythropoietic Anemia
Anemia of inadequate production, Hypochromic anemia, Anisocytosis, Poikilocytosis, Macrothrombocy... ORPHA:67044
Combined Cellular And Humoral Immune Defects With Granulomas
B lymphocytopenia, T lymphocytopenia OMIM:233650
Nephrotic Syndrome, Type 14
Hypertriglyceridemia, Lymphopenia, Hypoalbuminemia OMIM:617575
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Decreased proportion of naive T cells, Lymphopenia, Abnormally low T cell receptor excision circl... ORPHA:276
Bernard-Soulier Syndrome
Impaired ristocetin-induced platelet aggregation, Thrombocytopenia, Macrothrombocytopenia, Giant ... OMIM:231200
Histiocytosis, Progressive Mucinous
Mucinous histiocytosis OMIM:142630
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1
Reduced natural killer cell count, T lymphocytopenia OMIM:242860
Papular Xanthoma
Histiocytosis ORPHA:158008
Congenital Enterovirus Infection
Leukocytosis, Hyperammonemia, Leukopenia, Abnormal macrophage morphology, Hypoalbuminemia, Neutro... ORPHA:292
Asplenia, Isolated Congenital
Thrombocytosis, Asplenia, Howell-Jolly bodies OMIM:271400
Heme Oxygenase 1 Deficiency
Increased circulating ferritin concentration, Elevated circulating C-reactive protein concentrati... OMIM:614034
Immunodeficiency 72 With Autoinflammation
Hepatosplenomegaly, Increased proportion of memory T cells, Increased B cell count OMIM:618982
Dengue Fever
Leukopenia, Thrombocytopenia, Hypoproteinemia ORPHA:99828
Immunodeficiency 68
Abscess, B lymphocytopenia, T lymphocytopenia, Abnormal natural killer cell count, Septic arthritis OMIM:612260
Autoimmune Lymphoproliferative Syndrome, Type Iii
Elevated circulating C-reactive protein concentration, Splenomegaly, Increased proportion autorea... OMIM:615559
Rajab Interstitial Lung Disease With Brain Calcifications 2
Hepatosplenomegaly, Scoliosis, Hypertriglyceridemia, Microcytic anemia, Hypoalbuminemia, Joint hy... OMIM:619013
Hemophagocytic Lymphohistiocytosis, Familial, 2
Increased circulating ferritin concentration, Hemophagocytosis, Splenomegaly, Hypoproteinemia, He... OMIM:603553
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Abnormal reticulocyte morphology, Anisocytosis, Macrocytic anemia, Poikilocytosis, Increased hemo... OMIM:300835
Wolcott-Rallison Syndrome
Hyperbilirubinemia, Lymphocytosis, Hyperammonemia, Iron deficiency anemia, Hypoalbuminemia, Hypon... ORPHA:1667
Thrombocytopenia 4
Thrombocytopenia, Abnormal platelet volume OMIM:612004
Albers-Schönberg Osteopetrosis
Abnormal leukocyte morphology, Bone pain, Mandibular osteomyelitis, Hypocalcemia, Osteomyelitis, ... ORPHA:53
Anemia, Congenital Dyserythropoietic, Type Iv
Circulating nucleated red blood cells, Anemia of inadequate production, Hyperbilirubinemia, Splen... OMIM:613673
Eosinophilia, Familial
Anemia, Eosinophilia, Thrombocytopenia, Leukocytosis OMIM:131400
Neutropenia-Monocytopenia-Deafness Syndrome
Abnormality of neutrophils, Abnormal macrophage morphology ORPHA:2690
B-Cell Expansion With Nfkb And T-Cell Anergy
Increased B cell count, Splenomegaly OMIM:616452
Cholestasis, Progressive Familial Intrahepatic, 10
Splenomegaly, Increased total bilirubin, Conjugated hyperbilirubinemia, Hypoalbuminemia, Hypercho... OMIM:619868
Hepatoportal Sclerosis
Hyperbilirubinemia, Splenomegaly, Leukopenia, Hypoalbuminemia, Anemia, Thrombocytopenia, Hyperspl... ORPHA:64743
Combined Immunodeficiency, X-Linked
Decreased proportion of CD8-positive T cells, Decreased proportion of CD4-positive helper T cells OMIM:312863
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia
Abnormally low T cell receptor excision circle level, B lymphocytopenia OMIM:618987
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Hypochromia, Decreased mean corpuscular volume, Increased circulating ferritin concentration, Spl... OMIM:616860
Immunodeficiency 76
Lymphopenia, T lymphocytopenia, B lymphocytopenia, Splenomegaly OMIM:619164
Wiskott-Aldrich Syndrome 2
Decreased proportion of CD8-positive T cells, Thrombocytopenia OMIM:614493
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia
Thrombocytopenia, Lymphocytosis, Decreased mean platelet volume OMIM:617718
Hemochromatosis, Type 3
Increased circulating ferritin concentration, Lymphopenia, Arthritis, Hyperpigmentation of the sk... OMIM:604250
Avian Influenza
Elevated circulating C-reactive protein concentration, Lymphopenia, Leukopenia, Elevated circulat... ORPHA:454836
Nephropathy-Deafness-Hyperparathyroidism Syndrome
Anemia, Hypercalcemia ORPHA:2668
Pgm3-Cdg
Cutaneous abscess, Abnormal proportion of CD8-positive T cells, Lymphopenia, Neutropenia in prese... ORPHA:443811
Immunodeficiency 84
Perianal abscess, B lymphocytopenia, Splenomegaly OMIM:619437
Hypophosphatasia, Infantile
Widely patent fontanelles and sutures, Craniosynostosis, Vertebral clefting, Elevated plasma pyro... OMIM:241500
Immunodeficiency 50
Lymphopenia, Neutropenia OMIM:300988
X-Linked Lymphoproliferative Disease
Histiocytosis, Increased circulating ferritin concentration, Lymphocytosis, Hemophagocytosis, Spl... ORPHA:2442
Iron-Refractory Iron Deficiency Anemia
Elevated hepcidin level, Anisocytosis, Hypochromic microcytic anemia, Poikilocytosis OMIM:206200
T-Cell Immunodeficiency, Recurrent Infections, And Autoimmunity With Or Without Cardiac Malformations
Lymphopenia, Neutropenia OMIM:614868
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Thrombocytosis, Hypoalbuminemia, Hypoproteinemia, Iron deficiency anemia OMIM:226300
Benign Cephalic Histiocytosis
Histiocytosis ORPHA:157997
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked
Increased mean platelet volume, Thrombocytopenia OMIM:300048
Myeloproliferative Syndrome, Transient
Transient myeloproliferative syndrome, Leukocytosis OMIM:159595
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Hypoplasia of the thymus, Lymphopenia OMIM:200900
Neutrophil Immunodeficiency Syndrome
Abnormality of neutrophil physiology, Leukocytosis ORPHA:183707
Acute Peripheral Arterial Occlusion
Limb pain, Leukocytosis, Lower limb pain ORPHA:90064
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Abnormal hemoglobin, Splenomegaly, Abnormal platelet function, Anemia, Thrombocytopenia ORPHA:231393
Hemoglobin-Delta locus
Anemia, Imbalanced hemoglobin synthesis OMIM:142000
Myalgia-Eosinophilia Syndrome Associated With Tryptophan
Eosinophilia, Lymphopenia, Limitation of joint mobility, Arthritis ORPHA:2582
Congenital Disorder Of Glycosylation, Type Ih
Short neck, Camptodactyly, Elevated circulating creatinine concentration, Hypoalbuminemia, Anemia... OMIM:608104
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant
Abnormally low T cell receptor excision circle level, T lymphocytopenia OMIM:618806
Syndromic Diarrhea
Lymphopenia, Splenomegaly, Generalized hypopigmentation, Hypoplasia of the thymus, Hypopigmentati... ORPHA:84064
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin
Anemia of inadequate production, Anisocytosis, Oval macrocytosis, Poikilocytosis OMIM:603529
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Lymphopenia, Leukocytosis, Hypoplasia of the thymus, Thrombocytosis, Impaired lymphocyte transfor... OMIM:243150
Immunodeficiency 48
Absence of CD8-positive T cells, Splenomegaly OMIM:269840
Triokinase And Fmn Cyclase Deficiency Syndrome
Microcytic anemia, Hypoalbuminemia OMIM:618805
Amoebiasis Due To Entamoeba Histolytica
Leukocytosis, Hypoalbuminemia, Anemia, Lung abscess, Liver abscess ORPHA:67
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Lymphopenia, Splenomegaly, Autoimmune thrombocytopenia, Hemolytic anemia, Autoimmune hemolytic an... ORPHA:444463
Persistent Polyclonal B-Cell Lymphocytosis
Lymphocytosis, Splenomegaly OMIM:606445
Mucopolysaccharidosis-Plus Syndrome
Flexion contracture, Splenomegaly, Leukopenia, Short neck, Hypoalbuminemia, Neutropenia, Bone mar... OMIM:617303
Acute Myelomonocytic Leukemia
Anemia, Eosinophilia, Thrombocytopenia, Leukocytosis ORPHA:517
T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy
Decreased helper T cell proportion, T lymphocytopenia OMIM:601705
Agammaglobulinemia 8A, Autosomal Dominant
B lymphocytopenia OMIM:616941
Anemia, Congenital Dyserythropoietic, Type Ia
Anemia of inadequate production, Hyperbilirubinemia, Splenomegaly, Anisocytosis, Schistocytosis, ... OMIM:224120
Familial Hemophagocytic Lymphohistiocytosis
Increased circulating ferritin concentration, Hemophagocytosis, Splenomegaly, Hypertriglyceridemi... ORPHA:540
Chédiak-Higashi Syndrome
Increased circulating ferritin concentration, Hemophagocytosis, Increased proportion of CD25+ mas... ORPHA:167
Immunodeficiency 52
Increased proportion of gamma-delta T cells, Lymphopenia, Coombs-positive hemolytic anemia, Splen... OMIM:617514
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Lymphopenia, Elevated circulating C-reactive protein concentration, Leukocytosis, Splenomegaly, H... OMIM:615688
Combined Immunodeficiency With Faciooculoskeletal Anomalies
Abnormal T cell subset distribution, Osteopenia, B lymphocytopenia, Arthritis, Hyperlordosis, Dec... ORPHA:221139
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive
Arthritis, B lymphocytopenia, T lymphocytopenia OMIM:601457
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency
Lymphopenia, Hepatosplenomegaly, B lymphocytopenia, T lymphocytopenia, Impaired lymphocyte transf... ORPHA:35078
Griscelli Syndrome, Type 2
Melanin pigment aggregation in hair shafts, Hemophagocytosis, Hypopigmentation of the skin, Hepat... OMIM:607624
Congenital Dyserythropoietic Anemia Type Iii
Increased mean corpuscular volume, Hyperbilirubinemia, Anisocytosis, Poikilocytosis, Increased se... ORPHA:98870
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias
Lymphopenia, Autoimmune thrombocytopenia, Decreased proportion of class-switched memory B cells, ... OMIM:619846
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
Absent natural killer cells, Impaired lymphocyte transformation with phytohemagglutinin, Lymphope... OMIM:600802
Immunodeficiency 104
T lymphocytopenia, Splenomegaly OMIM:608971
Thalassemia, Beta+, Silent Allele
Reduced beta/alpha synthesis ratio OMIM:187550
Mastocytosis
Recurrent fractures, Splenomegaly, Osteoporosis, Mastocytosis, Abnormality of skin pigmentation, ... ORPHA:98292
Beta-Ketothiolase Deficiency
Thrombocytosis, Hyperuricemia, Leukocytosis, Hyperammonemia ORPHA:134
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Hypoproteinemia, Leukocytosis, Splenomegaly, Elevated circulating creatine kinase concentration, ... OMIM:615895
Immunodeficiency 95
Lymphopenia OMIM:619773
Lymphoid System Deterioration, Progressive
Abnormal T cell morphology, Lymphopenia OMIM:247630
Hemophagocytic Lymphohistiocytosis, Familial, 3
Granulocytopenia, Hemophagocytosis, Hepatosplenomegaly, Hypertriglyceridemia, Anemia OMIM:608898
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Abnormal T cell count, Lymphopenia, Eosinophilia, Hepatosplenomegaly, Abnormal B cell count, Abno... ORPHA:331206
Trichohepatoenteric Syndrome 1
Splenomegaly, Generalized hypopigmentation, Avascular necrosis of the capital femoral epiphysis, ... OMIM:222470
Familial Cold Autoinflammatory Syndrome 2
Elevated circulating C-reactive protein concentration, Leukocytosis, Lower limb pain, Splenomegal... OMIM:611762
Fetal Hemoglobin Quantitative Trait Locus 1
Persistence of hemoglobin F OMIM:141749
Cd8 Deficiency, Familial
Absence of CD8-positive T cells OMIM:608957
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Persistence of hemoglobin F, Anemia, Splenomegaly ORPHA:46532
Bone Marrow Failure Syndrome 6
Increased mean corpuscular volume, Lymphopenia, Persistence of hemoglobin F, Osteopenia, Neutrope... OMIM:618849
Leukodystrophy, Hypomyelinating, 24
Flexion contracture, B lymphocytopenia OMIM:619851
Progressive Familial Intrahepatic Cholestasis
Hypocalcemia, Reduced bone mineral density, Splenomegaly, Abnormality of thrombocytes, Delayed sk... ORPHA:172
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis
Autoimmune hemolytic anemia, Lymphopenia, Plasmacytosis OMIM:247800
Ras-Associated Autoimmune Leukoproliferative Disorder
Lymphocytosis, Splenomegaly, Monocytosis, Autoimmune thrombocytopenia, Hemolytic anemia, Pancytop... OMIM:614470
Immunodeficiency 55
Neutropenia, Lymphopenia, Absent natural killer cells OMIM:617827
Immunodeficiency 13
Lymphopenia, B lymphocytopenia, T lymphocytopenia, Decreased proportion of CD4-positive helper T ... OMIM:615518
Alpha-Heavy Chain Disease
Anemia, Hypocalcemia, Splenomegaly ORPHA:100025
Neuroleptic Malignant Syndrome
Hypomagnesemia, Hypocalcemia, Leukocytosis, Elevated circulating creatine kinase concentration, H... ORPHA:94093
Rh Deficiency Syndrome
Hypochromia, Hyperbilirubinemia, Spherocytosis, Anisocytosis, Hepatosplenomegaly, Macrocytic anem... ORPHA:71275
X-Linked Agammaglobulinemia
Hypocalcemia, Osteomyelitis, Arthritis, Neutropenia, Anemia, Thrombocytopenia, Hypopigmented skin... ORPHA:47
Immunodeficiency 82 With Systemic Inflammation
Decreased proportion of naive T cells, Joint swelling, Osteomyelitis, Elevated circulating C-reac... OMIM:619381
Niemann-Pick Disease, Type B
Sea-blue histiocytosis, Increased LDL cholesterol concentration, Splenomegaly, Decreased HDL chol... OMIM:607616
Immunodeficiency 21
Lymphopenia, Abnormal natural killer cell morphology, Aplastic anemia, Myeloid leukemia, Neutrope... OMIM:614172
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Lymphopenia, B lymphocytopenia, T lymphocytopenia ORPHA:277
Alpha-Thalassemia-Myelodysplastic Syndrome
Splenomegaly, Microcytic anemia, Neutropenia, HbH hemoglobin, Thrombocytopenia, Acute leukemia ORPHA:231401
Hemophagocytic Lymphohistiocytosis, Familial, 4
Increased circulating ferritin concentration, Hemophagocytosis, Splenomegaly, Hypertriglyceridemi... OMIM:603552
3-Hydroxy-3-Methylglutaric Aciduria
Leukocytosis, Hyperammonemia, Leukopenia, Thrombocytosis, Hyperuricemia, Anemia ORPHA:20
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Hypomagnesemia, Neutropenia in presence of anti-neutropil antibodies, Hypocalcemia, Osteomyelitis... ORPHA:37042
Immunodeficiency 14A, Autosomal Dominant
Decreased proportion of class-switched memory B cells, Increased proportion of transitional B cel... OMIM:615513
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Pancytopenia, Decreased helper T cell proportion, Hypersplenism, Splenomegaly OMIM:183350
Overhydrated Hereditary Stomatocytosis
Splenomegaly, Anisocytosis, Abnormal mean corpuscular volume, Hemolytic anemia, Decreased mean co... ORPHA:3203
Late-Onset Isolated Acth Deficiency
Eosinophilia, Normocytic anemia, Macrocytic anemia, Vitiligo, Generalized bone demineralization, ... ORPHA:199299
Reticular Dysgenesis
Hypoplasia of the thymus, Lymphopenia, Leukopenia, Congenital agranulocytosis OMIM:267500
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1
Anisocytosis, Flexion contracture, Camptodactyly OMIM:604273
Cinca Syndrome
Patellar overgrowth, Elevated circulating C-reactive protein concentration, Leukocytosis, Eosinop... OMIM:607115
Ulna Metaphyseal Dysplasia Syndrome
Delayed skeletal maturation, Abnormality of the vertebral column, Wrist pain, Hypercalcemia OMIM:191420
Mu-Heavy Chain Disease
Splenomegaly, Osteoporosis, Abnormal B cell count, Osteolysis, Anemia ORPHA:100024
Methemoglobinemia, Beta Type
Methemoglobinemia OMIM:617971
Methemoglobinemia, Alpha Type
Methemoglobinemia OMIM:617973
Hemoglobin H Disease
Reduced alpha/beta synthesis ratio, Hemolytic anemia, HbH hemoglobin, Splenomegaly OMIM:613978
Congenital Erythropoietic Porphyria
Splenomegaly, Hypopigmentation of the skin, Anisocytosis, Leukopenia, Increased erythrocyte proto... ORPHA:79277
Dominant Beta-Thalassemia
Decreased mean corpuscular volume, Splenomegaly, Extramedullary hematopoiesis, Anisocytosis, Pers... ORPHA:231226
Bacterial Toxic-Shock Syndrome
Increased circulating myelocyte count, Hypocalcemia, Osteomyelitis, Abscess, Elevated circulating... ORPHA:36234
Autoimmune Lymphoproliferative Syndrome, Type Iia
Neutropenia in presence of anti-neutropil antibodies, Coombs-positive hemolytic anemia, Splenomeg... OMIM:603909
Ménétrier Disease
Hypoproteinemia, Hypochromic microcytic anemia, Hypoalbuminemia ORPHA:2494
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Decreased mean corpuscular volume, Leukocytosis, Anisocytosis, Hepatosplenomegaly, Hemolytic anem... OMIM:618278
Paternal Uniparental Disomy Of Chromosome 1
Recurrent fractures, Episodic hemolytic anemia, Increased blood urea nitrogen, Craniosynostosis, ... ORPHA:251004
Neutropenia, Severe Congenital, 2, Autosomal Dominant
Monocytosis, B lymphocytopenia, Neutropenia OMIM:613107
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Splenomegaly, Abscess, B lymphocytopenia, Intermittent thrombocytopenia, Neutropenia, Abnormal CD... OMIM:150550
Familial Cold Autoinflammatory Syndrome 1
Elevated circulating C-reactive protein concentration, Leukocytosis, Arthritis OMIM:120100
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Thrombocytopenia, Hypoalbuminemia, Hyperbilirubinemia, Splenomegaly OMIM:251880
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant
Hemolytic anemia, Increased mean platelet volume, Stomatocytosis, Splenomegaly OMIM:153670
Proteasome-Associated Autoinflammatory Syndrome 2
Elevated circulating C-reactive protein concentration, B lymphocytopenia, Increased CD4:CD8 ratio... OMIM:618048
Lathosterolosis
Butterfly vertebrae, Hyperbilirubinemia, Hepatosplenomegaly, Anisopoikilocytosis, Osteoporosis, A... OMIM:607330
Poems Syndrome
Sclerosis of skull base, Sclerosis of foot bone, Polycythemia, Thrombocytosis, Hyperpigmentation ... ORPHA:2905
Acquired Partial Lipodystrophy
Lymphocytosis ORPHA:79087
Agammaglobulinemia 2, Autosomal Recessive
Absent circulating B cells, Abnormal T cell morphology OMIM:613500
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Joint stiffness, Lumbar hyperlordosis, Abnormality of retinal pigmentation, Flexion contracture, ... ORPHA:505248
Osteopetrosis, Autosomal Recessive 1
Sandwich appearance of vertebral bodies, Hypocalcemia, Osteomyelitis, Increased bone mineral dens... OMIM:259700
Celiac Disease, Susceptibility To, 1
Hypocalcemia, Osteoporosis, Iron deficiency anemia, Macrocytic anemia, Thrombocytosis, Rickets OMIM:212750
Bleeding Disorder, Platelet-Type, 19
Anemia, Macrothrombocytopenia OMIM:616176
Autoinflammatory Syndrome, Familial, Behcet-Like 1
Hemolytic anemia, Thrombocytopenia, Lymphopenia, Polyarticular arthritis OMIM:616744
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Lymphopenia, Lymphocytosis, Eosinophilia, Hepatosplenomegaly, Autoimmune thrombocytopenia, T lymp... ORPHA:169154
Deafness, Autosomal Dominant 1, With Or Without Thrombocytopenia
Thrombocytopenia, Impaired platelet aggregation, Macrothrombocytopenia OMIM:124900
Hyperparathyroidism, Neonatal Severe
Recurrent fractures, Hypophosphatemia, Splenomegaly, Hypercalcemia, Calcinosis, Anemia OMIM:239200
Brucellosis
Osteomyelitis, Elevated circulating C-reactive protein concentration, Leukocytosis, Splenomegaly,... ORPHA:1304
Takenouchi-Kosaki Syndrome
Increased mean platelet volume, Thrombocytopenia, Scoliosis, Camptodactyly OMIM:616737
Immunodeficiency 31C
Autoimmune hemolytic anemia, Osteopenia, Lymphopenia OMIM:614162
Oculoskeletodental Syndrome
Hypocalcemia, Splenomegaly, Scoliosis, Thoracic kyphosis, Elbow flexion contracture, Hypercalcemi... OMIM:618440
Juvenile Temporal Arteritis
Eosinophilia, Leukocytosis ORPHA:26137
Schnitzler Syndrome
Bone pain, Increased bone mineral density, Leukocytosis, Splenomegaly, Arthritis, Anemia ORPHA:37748
Muckle-Wells Syndrome
Elevated circulating C-reactive protein concentration, Leukocytosis, Polyarticular arthritis OMIM:191900
Immunodeficiency, Common Variable, 13
Acute lymphoblastic leukemia, B lymphocytopenia, Pancytopenia OMIM:616873
Autoerythrocyte Sensitization Syndrome
Joint hemorrhage, Impaired platelet adhesion, Autoimmune thrombocytopenia, Thrombocytosis, Abnorm... ORPHA:324636
Retinitis Pigmentosa And Erythrocytic Microcytosis
Decreased mean corpuscular volume, Anisocytosis, Decreased serum iron, Poikilocytosis, Elliptocyt... OMIM:616959
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Hepatosplenomegaly, T lymphocytopenia, Pancytopenia, Abnormal lymphocyte count, Abnormal natural ... ORPHA:79124
Beta-Thalassemia
Abnormal hemoglobin, Splenomegaly, Reduced bone mineral density, Abnormality of iron homeostasis,... ORPHA:848
Agammaglobulinemia 8B, Autosomal Recessive
Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, Splenomegaly, B Acute Lymphoblast... OMIM:619824
Osteomyelitis, Sterile Multifocal, With Periostitis And Pustulosis
Joint swelling, Osteomyelitis, Elevated circulating C-reactive protein concentration, Neutrophili... OMIM:612852
Cogan Syndrome
Thrombocytosis, Anemia, Leukocytosis ORPHA:1467
Leptospirosis
Hyperproteinemia, Thrombocytopenia ORPHA:509
Hepatocellular Carcinoma
Bone pain, Hypokalemia, Hyperbilirubinemia, Polycythemia, Thrombocytosis, Hypoalbuminemia, Hypona... ORPHA:88673
Blackfan-Diamond Anemia
Increased mean corpuscular volume, Neutropenia, Persistence of hemoglobin F, Leukopenia, Short ne... ORPHA:124
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome
Decreased proportion of CD8-positive T cells, Hypoplasia of the thymus, Decreased proportion of C... OMIM:617241
Cyanosis, Transient Neonatal
Methemoglobinemia, Reticulocytosis, Anemia OMIM:613977
Acetophenetidin Sensitivity
Hemolytic anemia, Methemoglobinemia OMIM:200300
Wiskott-Aldrich Syndrome, Autosomal Dominant
Lymphopenia, Absent microvilli on the surface of peripheral blood lymphocytes, Decreased mean pla... OMIM:600903
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Increased circulating ferritin concentration, Hemophagocytosis, Splenomegaly, Hepatosplenomegaly,... OMIM:613101
Chronic Bilirubin Encephalopathy
Hemolytic anemia, Neonatal hyperbilirubinemia, Hypoalbuminemia, Hypernatremia ORPHA:529808
Acute Bilirubin Encephalopathy
Hemolytic anemia, Neonatal hyperbilirubinemia, Hypoalbuminemia, Hypernatremia ORPHA:529799
Agammaglobulinemia 6, Autosomal Recessive
Abnormal T cell morphology, B lymphocytopenia OMIM:612692
Beta-Thalassemia, Dominant Inclusion Body Type
Splenomegaly, Persistence of hemoglobin F, Erythrocyte inclusion bodies, Microcytic anemia, Decre... OMIM:603902
Multicentric Reticulohistiocytosis
Histiocytosis, Arthritis ORPHA:139436
Congenital Disorder Of Glycosylation, Type Ia
Kyphosis, Flexion contracture, Osteopenia, Thrombocytosis, Hypocholesterolemia, Hypoalbuminemia OMIM:212065
Alg12-Cdg
Abnormal bone ossification, Scoliosis, B lymphocytopenia, Camptodactyly, Ulnar deviation of the w... ORPHA:79324
Systemic Lupus Erythematosus 17
Leukopenia, Thrombocytopenia, Lymphopenia, Autoimmune thrombocytopenia OMIM:301080
Agammaglobulinemia 10, Autosomal Dominant
Absent circulating B cells, Transient neutropenia OMIM:619707
Generalized Eruptive Histiocytosis
Histiocytosis, Spotty hyperpigmentation, Leukemia, Hypereosinophilia ORPHA:157991
Hemoglobin E Disease
Hypochromia, Anemia of inadequate production, Abnormal hemoglobin, Decreased mean corpuscular vol... ORPHA:2133
Combined Immunodeficiency Due To Partial Rag1 Deficiency
Neutropenia in presence of anti-neutropil antibodies, Splenomegaly, B lymphocytopenia, T lymphocy... ORPHA:231154
Transcobalamin Deficiency
Pancytopenia, Thrombocytopenia, Lymphopenia, Neutropenia ORPHA:859
Immunodeficiency 44
Lymphopenia OMIM:616636
Hemoglobin C-Beta-Thalassemia Syndrome
Anemia, Microcytic anemia, Abnormal hemoglobin, Splenomegaly ORPHA:231242
Noonan Syndrome 12
Spinal canal stenosis, Thrombocytopenia, Lymphopenia OMIM:618624
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy
Thrombocytosis, Perianal abscess, Leukocytosis, Hypochromic anemia OMIM:618213
Microcephaly-Cervical Spine Fusion Anomalies Syndrome
Kyphosis, Abnormal reticulocyte morphology, Short neck, Hyperlordosis, Fused cervical vertebrae ORPHA:2522
Immunodeficiency 70
Decreased proportion of CD4-positive helper T cells, B lymphocytopenia OMIM:618969
Acute Monoblastic/Monocytic Leukemia
Lymphocytosis, Leukocytosis, Hypochromic anemia, Acute monocytic leukemia, Ankle swelling, Anemia ORPHA:514
Combined Immunodeficiency Due To Dock8 Deficiency
B lymphocytopenia, T lymphocytopenia ORPHA:217390
Bernard-Soulier Syndrome
Decreased platelet glycoprotein Ib-IX-V, Impaired ristocetin-induced platelet aggregation, Macrot... ORPHA:274
Bone Marrow Failure Syndrome 2
Anemia, Bone marrow hypocellularity, Leukopenia, Thrombocytopenia OMIM:615715
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form
Irregular hyperpigmentation, Flexion contracture, Abnormal circulating selenium concentration, De... ORPHA:89842
Insulin-Resistance Syndrome Type B
Abnormal circulating fatty-acid concentration, Abnormal circulating lipid concentration, Leukopen... ORPHA:2298
Johanson-Blizzard Syndrome
Anemia, Delayed skeletal maturation, Hypoproteinemia ORPHA:2315
Unclassified Myelodysplastic Syndrome
Bone marrow hypocellularity, Acute myeloid leukemia, Leukocytosis ORPHA:98827
Gamma-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R5
Lumbar hyperlordosis, Elevated circulating creatine kinase concentration, Scoliosis, Abnormal mac... ORPHA:353
Secondary Intestinal Lymphangiectasia
Reduced circulating transferrin concentration, Lymphopenia, Decreased prealbumin level, Hypochole... ORPHA:90363
Acute Adrenal Insufficiency
Normocytic anemia, Increased circulating renin level, Vitiligo, Hyperpigmentation of the skin, Hy... ORPHA:95409
Diamond-Blackfan Anemia 1
Hypoplastic coccygeal vertebrae, Congenital hypoplastic anemia, Delayed cranial suture closure, H... OMIM:105650
Pseudo-Torch Syndrome 3
Increased circulating ferritin concentration, Anemia, Congenital thrombocytopenia, Leukocytosis OMIM:618886
Relapsing Fever
Elevated circulating C-reactive protein concentration, Neutrophilia, Leukocytosis, Leukopenia, In... ORPHA:91547
Autosomal Dominant Hypophosphatemic Rickets
Hypophosphatemia, Hypocalcemia, Osteomalacia, Iron deficiency anemia, Tooth abscess, Bone pain, R... ORPHA:89937
Marburg Hemorrhagic Fever
Hypokalemia, Lymphopenia, Back pain, Hyperammonemia, Leukopenia, Elevated circulating creatine ki... ORPHA:99826
Familial Thrombocytosis
Thrombocytosis, Chronic myelogenous leukemia, Acute myeloid leukemia, Splenomegaly ORPHA:71493
Cinca Syndrome
Abnormal joint morphology, Elevated circulating C-reactive protein concentration, Joint dislocati... ORPHA:1451
Delta-Beta-Thalassemia
Anemia, Microcytic anemia, Abnormal hemoglobin ORPHA:231237
Kenny-Caffey Syndrome, Type 1
Hypomagnesemia, Hypocalcemia, Delayed closure of the anterior fontanelle, Calvarial osteosclerosi... OMIM:244460
Osteopetrosis, Autosomal Recessive 5
Hypocalcemia, Hyperbilirubinemia, Leukocytosis, Splenomegaly, Extramedullary hematopoiesis, Incre... OMIM:259720
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form
Generalized reticulate brown pigmentation, Craniosynostosis, Hypopigmentation of the skin, Depigm... ORPHA:79396
Wiskott-Aldrich Syndrome
Lymphopenia, Eosinophilia, Absent microvilli on the surface of peripheral blood lymphocytes, Decr... OMIM:301000
Interstitial Lung And Liver Disease
Thrombocytosis, Anemia, Intraalveolar phospholipid accumulation, Hyperammonemia OMIM:615486
Adamantinoma
Bone pain, Hypercalcemia, Pathologic fracture ORPHA:55881
Beta-Thalassemia Intermedia
Anemia of inadequate production, Decreased mean corpuscular volume, Leukocytosis, Splenomegaly, E... ORPHA:231222
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis
Decreased proportion of CD8-positive T cells, Decreased proportion of CD4-positive helper T cells OMIM:611926
Storage Pool Platelet Disease
Acute leukemia, Decreased mean platelet volume OMIM:185050
Sea-Blue Histiocyte Disease
Sea-blue histiocytosis, Thrombocytopenia, Splenomegaly OMIM:269600
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type
Platyspondyly, Short neck, Biconcave vertebral bodies, Genu valgum, Intervertebral space narrowin... ORPHA:93315
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss
Hypocalcemia, Elevated circulating gamma-aminobutyric acid concentration, Splenomegaly OMIM:619658
Idiopathic Hypereosinophilic Syndrome
Joint swelling, Neutrophilia, Leukocytosis, Splenomegaly, Myeloproliferative disorder, Eosinophil... ORPHA:3260
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5
Kyphosis, Elevated circulating creatine kinase concentration, Scoliosis, Hyperlordosis, Vertebral... OMIM:606612
Ataxia-Pancytopenia Syndrome
Hypoplastic anemia, Acute myelomonocytic leukemia, Splenomegaly, Abnormal platelet function, Abno... ORPHA:2585
Aicardi-Goutieres Syndrome 9
Hepatosplenomegaly, Scoliosis, Osteoporosis, Hemolytic anemia, Hypoalbuminemia, Anemia OMIM:619487
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Neutropenia, Lymphopenia, Abnormally low T cell receptor excision circle level, Hepatosplenomegal... OMIM:618986
Macrothrombocytopenia, Isolated, 1, Autosomal Dominant
Impaired platelet aggregation, Macrothrombocytopenia OMIM:613112
Immunodeficiency 36
Lymphopenia, Splenomegaly, B lymphocytopenia, Chronic lymphatic leukemia, Decreased proportion of... OMIM:616005
Congenital Disorder Of Glycosylation, Type Iif
Thrombocytopenia, Macrothrombocytopenia, Decreased platelet glycoprotein Ib, Neutropenia OMIM:603585
Abetalipoproteinemia
Abnormal circulating apolipoprotein concentration, Kyphoscoliosis, Abnormality of retinal pigment... ORPHA:14
Epidermodysplasia Verruciformis, Susceptibility To, 5
Lymphopenia, T lymphocytopenia OMIM:618309
Leukocyte Adhesion Deficiency, Type Iii
Leukocytosis, Splenomegaly, Extramedullary hematopoiesis, Osteopetrosis, Hepatosplenomegaly, Abno... OMIM:612840
Addison Disease
Normocytic anemia, Increased circulating renin level, Vitiligo, Generalized bone demineralization... ORPHA:85138
Herpes Simplex Virus Encephalitis
Hyponatremia, Elevated circulating C-reactive protein concentration, Neutrophilia, Leukocytosis ORPHA:1930
Amed Syndrome, Digenic
Leukopenia, Hyperpigmentation of the skin, Bone marrow hypocellularity, Anemia, Thrombocytopenia,... OMIM:619151
Lipodystrophy, Congenital Generalized, Type 3
Hypocalcemia, Splenomegaly, Hepatosplenomegaly, Hypertriglyceridemia, Hypercholesterolemia OMIM:612526
Pulmonary Fibrosis And/Or Bone Marrow Failure, Telomere-Related, 6
Lymphopenia, Reticular hyperpigmentation, Abnormally low T cell receptor excision circle level, P... OMIM:619767
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Hypermethioninemia, Abnormal circulating arginine concentration, Abnormal circulating glutamine c... ORPHA:247598
Immunodeficiency, Common Variable, 1
Decreased proportion of class-switched memory B cells, Neutropenia in presence of anti-neutropil ... OMIM:607594
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia
Intraalveolar phospholipid accumulation, Leukocytosis, Splenomegaly OMIM:618042
Wilson Disease
Increased circulating copper concentration, Hyperbilirubinemia, Splenomegaly, Chondrocalcinosis, ... OMIM:277900
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency
B lymphocytopenia, Decreased proportion of memory B cells ORPHA:70593
Autoinflammation, Panniculitis, And Dermatosis Syndrome
Joint swelling, Elevated circulating C-reactive protein concentration, Neutrophilia, Leukocytosis... OMIM:617099
Analbuminemia
Increased LDL cholesterol concentration, Elevated circulating transferrin concentration, Osteopor... OMIM:616000
Purine Nucleoside Phosphorylase Deficiency
Lymphopenia, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Abnormal T cell morphology... ORPHA:760
Immunodeficiency 64
Splenomegaly, Increased proportion autoreactive unresponsive CD21-/low B cells, Hepatosplenomegal... OMIM:618534
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Hypoalbuminemia, Craniosynostosis ORPHA:88643
Lymphoproliferative Syndrome 1
Increased circulating ferritin concentration, Elevated circulating C-reactive protein concentrati... OMIM:613011
Psoriasis 14, Pustular
Oligoarthritis, Elevated circulating C-reactive protein concentration, Neutrophilia, Leukocytosis... OMIM:614204
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis
Hyponatremia, Thrombocytopenia, Leukocytosis ORPHA:83601
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Hepatosplenomegaly, Hypoalbuminemia, Flexion contracture ORPHA:367
Colchicine Poisoning
Hypomagnesemia, Hypophosphatemia, Hypokalemia, Hypocalcemia, Leukocytosis, Abnormal blood ion con... ORPHA:31824
Lymphoproliferative Syndrome, X-Linked, 2
Increased circulating ferritin concentration, Hemophagocytosis, Splenomegaly, Aplastic anemia, Hy... OMIM:300635
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1
Hypoalbuminemia, Hypercholesterolemia OMIM:607250
Alpha-Thalassemia
Abnormal hemoglobin, Splenomegaly, Hemolytic anemia, Microcytic anemia, Anemia, Hypersplenism ORPHA:846
Oculocerebrodental Syndrome
Hypocalcemia, Scoliosis, Hyperlordosis, Thoracic kyphosis, Hypercalcemia, Delayed skeletal matura... ORPHA:557003
Hypervitaminosis A, Susceptibility To
Hypercalcemia, Lower limb pain OMIM:240150
Fanconi Anemia, Complementation Group I
Short neck, Fused cervical vertebrae, Neutropenia, Bone marrow hypocellularity, Cafe-au-lait spot OMIM:609053
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Hypomagnesemia, Hypokalemia, Hypocalcemia, Hyperpigmentation of the skin, Anemia OMIM:175500
Orotic Aciduria
Hypochromia, Folate-unresponsive megaloblastic anemia, Anisocytosis, Poikilocytosis, Pyrimidine-r... OMIM:258900
Combined Immunodeficiency Due To Zap70 Deficiency
Lymphocytosis, Eosinophilia, Hepatosplenomegaly, Autoimmune thrombocytopenia, Decreased proportio... ORPHA:911
Alg6-Cdg
Decreased LDL cholesterol concentration, Scoliosis, Hypoalbuminemia ORPHA:79320
Neutropenia, Severe Congenital, X-Linked
Decreased CD4:CD8 ratio, Monocytopenia, Neutropenia OMIM:300299
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome
Flexion contracture, Scoliosis, Camptodactyly, Increased mean platelet volume, Thrombocytopenia ORPHA:487796
Adult-Onset Still Disease
Joint swelling, Elevated circulating C-reactive protein concentration, Neutrophilia, Leukocytosis... ORPHA:829
Immunodeficiency 81
Impaired collagen-induced platelet aggregation, Abnormally low T cell receptor excision circle le... OMIM:619374
Hermansky-Pudlak Syndrome 9
Ocular albinism, Hypopigmentation of the skin, Leukopenia, Abnormal platelet aggregation, Thrombo... OMIM:614171
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Short neck, Hypocalcemia, Hypoproteinemia, Splenomegaly OMIM:235255
Infantile Myofibromatosis
Irregular hyperpigmentation, Chondrocalcinosis, Osteolysis, Hypercalcemia, Abnormal sacrum morpho... ORPHA:2591
Spinocerebellar Ataxia With Axonal Neuropathy Type 1
Hypoalbuminemia, Hypercholesterolemia ORPHA:94124
Nephrotic Syndrome, Type 2
Hyperlipidemia, Hypoalbuminemia OMIM:600995
Microcephaly With Cervical Spine Fusion Anomalies
Vertebral fusion, Spinal instability OMIM:251250
Acute Panmyelosis With Myelofibrosis
Lymphocytosis, Acute myelomonocytic leukemia, Splenomegaly, Low back pain, Pancytopenia, Bone mar... ORPHA:86843
Primary Familial Polycythemia
Polycythemia, Abnormal hemoglobin ORPHA:90042
Alg1-Cdg
Kyphosis, Limitation of joint mobility, Scoliosis, Hypoalbuminemia ORPHA:79327
Subacute Inflammatory Demyelinating Polyneuropathy
Limited elbow flexion, Limitation of movement at ankles, Limited hip movement, Leukocytosis ORPHA:206594
Myopathy With Extrapyramidal Signs
Extremely elevated creatine kinase, Hyperlysinemia, Hypervalinemia, Leukocytosis, Splenomegaly, E... OMIM:615673
Al Amyloidosis
Anemia, Hypoalbuminemia, Increased circulating NT-proBNP concentration, Howell-Jolly bodies ORPHA:85443
Juvenile Polyposis Syndrome
Anemia, Hypokalemia, Hypoalbuminemia OMIM:174900
Blue Diaper Syndrome
Hypercalcemia, Abnormal circulating tryptophan concentration OMIM:211000
Diarrhea 7, Protein-Losing Enteropathy Type
Hyperlipidemia, Hypoalbuminemia, Hypercholesterolemia OMIM:615863
Immunodeficiency 98 With Autoinflammation, X-Linked
Hemophagocytosis, Splenomegaly, B lymphocytopenia, Thrombocytopenia, Bone marrow hypocellularity,... OMIM:301078
Sarcoidosis
Joint swelling, Hypopigmentation of the skin, Eosinophilia, Leukopenia, Hemolytic anemia, Hyperpi... ORPHA:797
Griscelli Syndrome Type 2
Hyperlipidemia, Neutropenia, Hemophagocytosis, Splenomegaly, Hypopigmentation of hair, Partial al... ORPHA:79477
Aggressive Systemic Mastocytosis
Bone pain, Neutropenia, Abnormal mast cell morphology, Leukocytosis, Hepatosplenomegaly, Osteopor... ORPHA:98850
Nephrotic Syndrome, Type 15
Hypoalbuminemia OMIM:617609
Nephrotic Syndrome, Type 9
Hypoalbuminemia OMIM:615573
Immunodeficiency By Defective Expression Of Mhc Class Ii
Neutropenia in presence of anti-neutropil antibodies, Autoimmune thrombocytopenia, T lymphocytope... ORPHA:572
Adult Idiopathic Neutropenia
Monocytopenia, Monocytosis, Lymphopenia, Neutropenia ORPHA:2688
Immunodeficiency 93 And Hypertrophic Cardiomyopathy
Decreased proportion of class-switched memory B cells, Absent circulating B cells, B lymphocytope... OMIM:619705
Spondylocostal Dysostosis 1, Autosomal Recessive
Vertebral segmentation defect, Kyphoscoliosis, Back pain, Hemivertebrae, Short neck, Block verteb... OMIM:277300
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies
Osteopenia, Delayed skeletal maturation, Hypercalcemia, Craniosynostosis OMIM:614732
Severe Combined Immunodeficiency, X-Linked
Hypoplasia of the thymus, Impaired lymphocyte transformation with phytohemagglutinin, T lymphocyt... OMIM:300400
Cryptogenic Organizing Pneumonia
Elevated circulating C-reactive protein concentration, Neutrophilia, Leukocytosis ORPHA:1302
Galloway-Mowat Syndrome 6
Delayed skeletal maturation, Hypoalbuminemia OMIM:618347
Focal Segmental Glomerulosclerosis 6
Hypoalbuminemia OMIM:614131
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis
Neutrophilia, Leukocytosis, Abnormally low T cell receptor excision circle level, Impaired neutro... OMIM:608203
Galloway-Mowat Syndrome 8
Hypoalbuminemia OMIM:618349
Primary Membranoproliferative Glomerulonephritis
Hypoalbuminemia ORPHA:54370
Progressive Multifocal Leukoencephalopathy
Decreased proportion of CD8-positive T cells, Abnormal proportion of CD4-positive T cells ORPHA:217260
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Elevated circulating creatine kinase concentration, Scoliosis, Hypoalbuminemia, Hypercholesterolemia OMIM:208920
Myopathy, Tubular Aggregate, 2
Spinal rigidity, Hypocalcemia, Elevated circulating creatine kinase concentration, Flexion contra... OMIM:615883
Thrombocytopenia 1
Joint hemorrhage, Intermittent thrombocytopenia, Congenital thrombocytopenia, Decreased mean plat... OMIM:313900
Sea-Blue Histiocytosis
Sea-blue histiocytosis, Splenomegaly, Hypopigmentation of the skin, Hyperpigmentation of the skin... ORPHA:158029
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Hypoalbuminemia OMIM:617156
T-Cell Lymphoma, Subcutaneous Panniculitis-Like
Increased circulating ferritin concentration, Hemophagocytosis, Splenomegaly, Hypertriglyceridemi... OMIM:618398
Immunodeficiency 17
Decreased proportion of CD8-positive T cells, Autoimmune hemolytic anemia, Abnormal B cell morpho... OMIM:615607
Macrocephaly/Autism Syndrome
Lymphopenia, Splenomegaly OMIM:605309
Agammaglobulinemia 9, Autosomal Recessive
Absent circulating B cells, Thrombocytopenia OMIM:619693
Vertebral Fusion, Posterior Lumbosacral, With Blepharoptosis
Posterior fusion of lumbosacral vertebrae OMIM:192800
Hyperparathyroidism 4
Osteopenia, Hypercalcemia OMIM:617343
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Lymphopenia, Splenomegaly, Aplasia of the thymus, Severe B lymphocytopenia, Eosinophilia, Autoimm... OMIM:102700
Livedoid Vasculopathy
Leukocytosis, Abnormal circulating lipid concentration, Polycythemia, Lower limb pain, Hyperpigme... ORPHA:542643
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Hypocalcemia, Hypoproteinemia, Splenomegaly, Hepatosplenomegaly, Short neck ORPHA:1655
Granulomatous Slack Skin
Hypercalcemia ORPHA:33111
Diffuse Alveolar Hemorrhage
Elevated circulating creatinine concentration, Anemia, Thrombocytopenia, Leukocytosis ORPHA:90060
Deafness-Lymphedema-Leukemia Syndrome
Leukocytosis, Splenomegaly, Myeloproliferative disorder, Abnormal neutrophil count, Bone marrow h... ORPHA:3226
Alpha-Thalassemia Myelodysplasia Syndrome
HbH hemoglobin, Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia OMIM:300448
Autoimmune Lymphoproliferative Syndrome
Abnormal proportion of CD8-positive T cells, Lymphopenia, Coombs-positive hemolytic anemia, Lymph... ORPHA:3261
Spherocytosis, Type 5
Spherocytosis, Abnormal leukocyte count, Splenomegaly, Hemolytic anemia, Abnormal platelet count,... OMIM:612690
Idiopathic Chronic Eosinophilic Pneumonia
Elevated circulating C-reactive protein concentration, Hypereosinophilia, Leukocytosis ORPHA:2902
Tularemia
Leukocytosis, Anemia, Brain abscess, Cutaneous abscess, Thrombocytopenia ORPHA:3392
Thrombocytopenia 3
Thrombocytopenia, Decreased mean platelet volume OMIM:273900
Rajab Interstitial Lung Disease With Brain Calcifications 1
Hypocalcemia, Reduced bone mineral density, Osteopenia, Scoliosis, Joint laxity, Hypoalbuminemia,... OMIM:613658
Hereditary Chronic Pancreatitis
Elevated circulating C-reactive protein concentration, Leukocytosis ORPHA:676
Proteasome-Associated Autoinflammatory Syndrome 3
Lymphopenia, Flexion contracture, Splenomegaly, Arthritis, Hypertriglyceridemia, Anemia, Thromboc... OMIM:617591
Immunodeficiency 49
Eosinophilia, Lymphopenia, Wormian bones OMIM:617237
Familial Isolated Hyperparathyroidism
Hypophosphatemia, Osteopenia, Chondrocalcinosis, Generalized osteoporosis, Hypercalcemia, Infanti... ORPHA:99879
Leukocyte Adhesion Deficiency
Osteomyelitis, Leukocytosis, Polycythemia, Coronal craniosynostosis, Impaired neutrophil chemotax... ORPHA:2968
Dextrocardia With Unusual Facies And Microphthalmia
Vertebral segmentation defect, Vertebral fusion OMIM:221950
Purine Nucleoside Phosphorylase Deficiency
Neutropenia in presence of anti-neutropil antibodies, Lymphopenia, Splenomegaly, Increased circul... OMIM:613179
Ivic Syndrome
Joint stiffness, Leukocytosis, Synostosis of carpal bones, Scoliosis, Radioulnar synostosis, Thro... ORPHA:2307
Liver Disease, Severe Congenital
Increased circulating ferritin concentration, Hypocalcemia, Lymphocytosis, Hyperbilirubinemia, Sp... OMIM:619991
Majeed Syndrome
Osteomyelitis, Increased bone mineral density, Leukocytosis, Congenital hypoplastic anemia, Splen... ORPHA:77297
Osteopetrosis With Renal Tubular Acidosis
Recurrent fractures, Hypocalcemia, Osteopetrosis, Leukopenia, Elevated circulating creatine kinas... ORPHA:2785
Cartilage-Hair Hypoplasia
Hypocalcemia, Abnormal bone ossification, Accelerated skeletal maturation, Abnormality of retinal... ORPHA:175
Hypercalcemia, Infantile, 2
Hypophosphatemia, Hypercalcemia OMIM:616963
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Lymphopenia, Aplasia of the thymus, Splenomegaly, Abnormally low T cell receptor excision circle ... OMIM:602450
Spondyloenchondrodysplasia With Immune Dysregulation
Irregular vertebral endplates, Joint swelling, Sclerosis of skull base, Lumbar hyperlordosis, Lym... OMIM:607944
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase
Methemoglobinemia, Polycythemia OMIM:250800
Thrombocytopenia-Absent Radius Syndrome
Aplasia/Hypoplasia of the patella, Scoliosis, Genu varum, Fused cervical vertebrae, Hip dislocati... ORPHA:3320
Autosomal Dominant Severe Congenital Neutropenia
Lymphopenia, Osteopenia, Eosinophilia, Monocytosis, Aplastic anemia, Acute lymphoblastic leukemia... ORPHA:486
Fanconi Anemia, Complementation Group V
Elevated alpha-fetoprotein, Neutropenia, Bone marrow hypocellularity, Anemia, Thrombocytopenia OMIM:617243
Paget Disease Of Bone 2, Early-Onset