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Gene: Arpc1b MGI:1343142

Gene Summary

Name:

actin related protein 2/3 complex, subunit 1B

Synonyms:

SOP2Hs, p41-ARC, L72

Order Alleles

IMPC Data Collections

Body Weight Measurements
No Embryo Imaging Data
Viability Data

IMPC Phenotype Summary

Significant

Not Significant

Not tested

View all our phenotype data below

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	Allele	Zyg	Life Stage	P Value
increased KLRG1+ CD4 alpha-beta T cell number	Arpc1b^{tm1a(EUCOMM)Wtsi}	HOM	Early adult	0.00
increased circulating total protein level	Arpc1b^{tm1a(EUCOMM)Wtsi}	HOM	Early adult	1.54×10^-06
increased plasma cell number	Arpc1b^{tm1a(EUCOMM)Wtsi}	HOM	Early adult	0.00
decreased circulating fructosamine level	Arpc1b^{tm1a(EUCOMM)Wtsi}	HOM	Early adult	1.84×10^-13
decreased circulating alkaline phosphatase level	Arpc1b^{tm1a(EUCOMM)Wtsi}	HOM	Early adult	5.58×10^-05
decreased macrophage cell number	Arpc1b^{tm1a(EUCOMM)Wtsi}	HOM	Early adult	0.00
increased immature NK cell number	Arpc1b^{tm1a(EUCOMM)Wtsi}	HOM	Early adult	0.00
decreased marginal zone precursor B cell number	Arpc1b^{tm1a(EUCOMM)Wtsi}	HOM	Early adult	0.00
increased CD4-positive, CD25-positive, alpha-beta regulatory T cell number	Arpc1b^{tm1a(EUCOMM)Wtsi}	HOM	Early adult	0.00
decreased mean corpuscular hemoglobin	Arpc1b^{tm1a(EUCOMM)Wtsi}	HOM	Early adult	1.53×10^-09
increased memory CD4-positive, CD25-positive, alpha-beta regulatory T cell number	Arpc1b^{tm1a(EUCOMM)Wtsi}	HOM	Early adult	0.00
increased red blood cell distribution width	Arpc1b^{tm1a(EUCOMM)Wtsi}	HOM	Early adult	9.14×10^-11
increased effector memory T-helper cell number	Arpc1b^{tm1a(EUCOMM)Wtsi}	HOM	Early adult	0.00
decreased transitional stage T2 B cell number	Arpc1b^{tm1a(EUCOMM)Wtsi}	HOM	Early adult	0.00
increased memory-marker NK cell number	Arpc1b^{tm1a(EUCOMM)Wtsi}	HOM	Early adult	0.00
increased KLRG1-positive CD4-positive, CD25-positive, alpha-beta regulatory T cell number	Arpc1b^{tm1a(EUCOMM)Wtsi}	HOM	Early adult	0.00
increased memory-marker CD4-negative NK T cell number	Arpc1b^{tm1a(EUCOMM)Wtsi}	HOM	Early adult	0.00
decreased mature NK cell number	Arpc1b^{tm1a(EUCOMM)Wtsi}	HOM	Early adult	0.00
increased leukocyte cell number	Arpc1b^{tm1a(EUCOMM)Wtsi}	HOM	Early adult	1.21×10^-10
decreased Ly6C-positive mature NK cell number	Arpc1b^{tm1a(EUCOMM)Wtsi}	HOM	Early adult	0.00
increased KLRG1-positive T-helper cell number	Arpc1b^{tm1a(EUCOMM)Wtsi}	HOM	Early adult	0.00
fusion of vertebral arches	Arpc1b^{tm1a(EUCOMM)Wtsi}	HOM	Early adult	3.70×10^-05
increased CD103-positive CD11b-low dendritic cell number	Arpc1b^{tm1a(EUCOMM)Wtsi}	HOM	Early adult	0.00
decreased NK cell number	Arpc1b^{tm1a(EUCOMM)Wtsi}	HOM	Early adult	0.00
increased mean platelet volume	Arpc1b^{tm1a(EUCOMM)Wtsi}	HOM	Early adult	1.73×10^-05
decreased CD4-positive, alpha-beta T cell number	Arpc1b^{tm1a(EUCOMM)Wtsi}	HOM	Early adult	0.00
decreased body length	Arpc1b^{tm1a(EUCOMM)Wtsi}	HOM	Early adult	2.79×10^-06
decreased circulating serum albumin level	Arpc1b^{tm1a(EUCOMM)Wtsi}	HOM	Early adult	5.84×10^-05
vertebral fusion	Arpc1b^{tm1a(EUCOMM)Wtsi}	HOM	Early adult	1.10×10^-05
thrombocytosis	Arpc1b^{tm1a(EUCOMM)Wtsi}	HOM	Early adult	8.11×10^-05
increased circulating calcium level	Arpc1b^{tm1a(EUCOMM)Wtsi}	HOM	Early adult	6.15×10^-06
increased CD4-positive, alpha-beta memory T cell number	Arpc1b^{tm1a(EUCOMM)Wtsi}	HOM	Early adult	0.00
decreased KLRG1-positive NK cell number	Arpc1b^{tm1a(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.

X-ray

XRay Images Skull Lateral Orientation

17 Images

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Mesenteric Lymph Node Immunophenotyping

Images associated with FACS analysis

24 Images

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X-ray

XRay Images Whole Body Lateral Orientation

17 Images

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DSS Histology

Images

8 Images

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Spleen Immunophenotyping

Images associated with FACS analysis

46 Images

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X-ray

XRay Images Forepaw

16 Images

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X-ray

XRay Images Whole Body Dorso Ventral

17 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

16 Images

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Anti-nuclear antibody assay

Images

3 Images

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Histopathology

Images

9 Images

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Eye Morphology

Images Ophthalmoscopy

1 Images

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Eye Morphology

Images Slit Lamp

1 Images

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Ear epidermis immunophenotyping

Images

9 Images

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Legacy Phenotype Associated Images

Arpc1b^{tm1a(EUCOMM)Wtsi}
HOM, Male, WTSI

View all 69 images

Arpc1b^{tm1a(EUCOMM)Wtsi}
foot, abnormal autopod morphology, WT, Male, WTSI

Arpc1b^{tm1a(EUCOMM)Wtsi}
head, HOM, Female, WTSI

Arpc1b^{tm1a(EUCOMM)Wtsi}
abnormal eye morphology, eye opacity, corneal opacity, HOM, Male, WTSI

Arpc1b^{tm1a(EUCOMM)Wtsi}
eye, abnormal eye morphology, eye opacity, corneal opacity, HOM, Female, WTSI

Arpc1b^{tm1a(EUCOMM)Wtsi}
persistence of hyaloid vascular system, HOM, Male, WTSI

Arpc1b^{tm1a(EUCOMM)Wtsi}
corneal opacity, HOM, Female, WTSI

Arpc1b^{tm1a(EUCOMM)Wtsi}
back skin, HOM, Female, WTSI

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.

Human diseases associated with Arpc1b (1 diseases)
Human diseases predicted to be associated with Arpc1b (787 diseases)

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, Elevated circulating C-reactive protein concentration, Lymphocytosis, Decreased...	OMIM:617718

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

Disease	Matching phenotypes	Source
Hemophagocytic Syndrome Associated With An Infection	Pancytopenia, Hypertriglyceridemia, Splenomegaly, Increased circulating ferritin concentration, A...	ORPHA:158048
Immunodeficiency 69	Pancytopenia, Splenomegaly, Leukocytosis, Increased circulating ferritin concentration, Hepatospl...	OMIM:618963
Dysplasia Of Head Of Femur, Meyer Type	Multicentric femoral head ossification, Congenital hip dislocation, Delayed skeletal maturation, ...	ORPHA:168621
Immunodeficiency 105	Impaired lymphocyte transformation with phytohemagglutinin, Pancytopenia, Hepatosplenomegaly, T l...	OMIM:619924
Autoinflammation With Infantile Enterocolitis	Pancytopenia, Elevated circulating C-reactive protein concentration, Splenomegaly, Increased circ...	OMIM:616050
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia	Macrocytic anemia, Pancytopenia, Anemia of inadequate production, Megaloblastic anemia, Septic ar...	OMIM:617780
Immunodeficiency 21	Osteomyelitis, Aplastic anemia, B lymphocytopenia, Neutropenia, Monocytopenia, Myeloid leukemia, ...	OMIM:614172
Immunodeficiency 18	Decreased proportion of CD3-positive T cells, Lymphopenia	OMIM:615615
Lymphoproliferative Syndrome 3	Reduced natural killer cell count, Hepatosplenomegaly	OMIM:618261
Immunodeficiency 27A	Splenomegaly, Leukocytosis, Hepatosplenomegaly, Salmonella osteomyelitis, Hypoalbuminemia, Thromb...	OMIM:209950
Immunodeficiency 15B	Monocytosis, Reduced natural killer cell count	OMIM:615592
Immunodeficiency 20	Reduced natural killer cell count	OMIM:615707
Agammaglobulinemia 7, Autosomal Recessive	Reduced natural killer cell count, Neutropenia	OMIM:615214
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease	Acute myeloid leukemia, Pancytopenia, Hypertriglyceridemia, Elevated circulating C-reactive prote...	ORPHA:158057
Juvenile Arthritis	Thrombocytosis, Leukocytosis	OMIM:618795
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality	Acute myeloid leukemia, Macrocytic anemia, Anisocytosis, Abnormal erythrocyte morphology, Erythro...	ORPHA:86841
Immunodeficiency 43	Lung abscess, Hypoalbuminemia, Decreased circulating beta-2-microglobulin level, B lymphocytopeni...	OMIM:241600
Immunodeficiency 102	Autoimmune thrombocytopenia, Neutropenia in presence of anti-neutropil antibodies, Leukopenia, De...	OMIM:301082
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne	Pancytopenia, Elevated circulating C-reactive protein concentration, Microcytic anemia, Elbow fle...	OMIM:604416
Sickle Cell Anemia	Hemolytic anemia, Reticulocytosis, Osteomyelitis, Microcytic anemia, Abnormality of the spleen, L...	ORPHA:232
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)	T lymphocytopenia, Hypocalcemia	DECIPHER:16
Immunodeficiency 14B, Autosomal Recessive	Neutrophilia, Leukocytosis, Monocytosis, Polyarticular arthritis, B lymphocytopenia, Thrombocytosis	OMIM:619281
Acquired Idiopathic Sideroblastic Anemia	Normocytic anemia, Acute myeloid leukemia, Pancytopenia, Anemia of inadequate production, Splenom...	ORPHA:75564
Immunodeficiency 97 With Autoinflammation	Autoimmune hemolytic anemia, Hypertriglyceridemia, Decreased proportion of CD4+CD25+ regulatory T...	OMIM:619802
Immunodeficiency 103, Susceptibility To Fungal Infections	Abnormal B cell count, Decreased serum iron, Hypereosinophilia, Abnormal proportion of CD8-positi...	OMIM:212050
Neutropenia, Severe Congenital, 1, Autosomal Dominant	Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Monocytosis, Neutropenia, Thr...	OMIM:202700
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy	Impaired lymphocyte transformation with phytohemagglutinin, Hypertriglyceridemia, Increased circu...	OMIM:619313
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome	Lymphopenia, Hypoproteinemia	ORPHA:1116
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency	Reticulocytosis, Anisocytosis, Abnormal erythrocyte morphology, Reduced red cell pyruvate kinase ...	ORPHA:766
Congenital Amegakaryocytic Thrombocytopenia	Abnormal hemoglobin, Short neck, Abnormal form of the vertebral bodies, Melanocytic nevus, Anemia...	ORPHA:3319
Immunodeficiency 57 With Autoinflammation	Perianal abscess, T lymphocytopenia, Reduced natural killer cell count, B lymphocytopenia	OMIM:618108
Lymphangiectasia, Intestinal	Lymphopenia, Neonatal hypoproteinemia	OMIM:152800
Histiocytosis, Familial Lipochrome	Increased alpha-globulin, Polyarticular arthritis, Histiocytosis	OMIM:235900
Thrombocytopenia 2	Leukocytosis, Thrombocytopenia	OMIM:188000
Severe Combined Immunodeficiency Due To Foxn1 Deficiency	T lymphocytopenia	ORPHA:169095
Lymphoproliferative Syndrome, X-Linked, 1	Pancytopenia, Aplastic anemia, Elevated circulating C-reactive protein concentration, Splenomegal...	OMIM:308240
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive	Leukocytosis, Elevated circulating C-reactive protein concentration, Anemia	OMIM:619398
Immunodeficiency 54	Splenomegaly, Reduced natural killer cell count, Hyperpigmentation of the skin	OMIM:609981
Immunodeficiency 85 And Autoimmunity	Oligoarthritis, T lymphocytopenia, Decreased proportion of CD4-positive helper T cells, Lymphopen...	OMIM:619510
Macrophage Activation Syndrome	Hypertriglyceridemia, Elevated circulating C-reactive protein concentration, Splenomegaly, Increa...	ORPHA:158061
Diaph1-Related Sensorineural Hearing Loss-Thrombocytopenia Syndrome	Iron deficiency anemia, Thrombocytopenia, Increased mean platelet volume, Neutropenia	ORPHA:494444
Refractory Celiac Disease	Normocytic anemia, Macrocytic anemia, Microcytic anemia, Increased proportion of HLA DR+ T cells,...	ORPHA:398063
Aplasia Cutis Congenita With Intestinal Lymphangiectasia	Lymphopenia, Hypoproteinemia	OMIM:207731
Thrombocythemia 3	Thrombocytosis	OMIM:614521
Polycythemia Vera	Splenomegaly, Leukocytosis, Increased hemoglobin, Increased red blood cell mass, Increased hemato...	OMIM:263300
Immunodeficiency 24	Lymphopenia, Decreased proportion of memory B cells, Decreased CD4:CD8 ratio, Reduced proportion ...	OMIM:615897
Leishmaniasis	Pancytopenia, Abnormal macrophage morphology, Splenomegaly, Anemia, Leukopenia, Hypoalbuminemia, ...	ORPHA:507
Gaisböck Syndrome	Hypertriglyceridemia, Splenomegaly, Increased mean corpuscular hemoglobin concentration, Gout, Hy...	ORPHA:90041
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss	Leukocyte inclusion bodies, Giant platelets, Macrothrombocytopenia, Neutrophil inclusion bodies, ...	OMIM:155100
Thrombocythemia 2	Thrombocytosis	OMIM:601977
Nephrotic Syndrome, Type 7	Hemolytic anemia, Hypoalbuminemia, Thrombocytopenia	OMIM:615008
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections	Increased susceptibility to fractures, Scoliosis, Neutropenia, Lymphopenia, Reduced natural kille...	OMIM:619752
Hemoglobin E-Beta-Thalassemia Syndrome	Increased circulating ferritin concentration, Abnormal hemoglobin, Anemia	ORPHA:231249
Thrombocytopenia With Beta-Thalassemia, X-Linked	Hemolytic anemia, Reticulocytosis, Increased RBC distribution width, Reduced platelet alpha granu...	OMIM:314050
Immunodeficiency 32B	Neutrophilia, Eosinophilia, Splenomegaly, Anemia, Impaired oxidative burst, Hypoalbuminemia, Mono...	OMIM:226990
Immunodeficiency 92	Osteomyelitis, Leukocytosis, Decreased proportion of class-switched memory B cells, B lymphocytop...	OMIM:619652
Bleeding Disorder, Platelet-Type, 24	Increased mean platelet volume, Thrombocytopenia, Impaired ADP-induced platelet aggregation, Plat...	OMIM:619271
Immunodeficiency 15A	Decreased proportion of CD4-positive helper T cells, Decreased proportion of CD8-positive T cells...	OMIM:618204
Bleeding Disorder, Platelet-Type, 16	Giant platelets, Macrothrombocytopenia, Platelet anisocytosis, Anemia, Impaired platelet aggregat...	OMIM:187800
Multiple Myeloma	Osteopenia, Hypercalcemia, Splenomegaly, Elevated circulating creatinine concentration, Bone pain...	ORPHA:29073
Diffuse Neonatal Hemangiomatosis	Thrombocytopenia, Hypercalcemia, Anemia	ORPHA:2123
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2	Elevated circulating C-reactive protein concentration, Perianal abscess, Iron deficiency anemia, ...	OMIM:301074
Platelet Glycoprotein Iv Deficiency	Giant platelets, Thrombocytopenia	OMIM:608404
Chronic Myeloid Leukemia	Splenomegaly, Leukocytosis, Abnormal granulocyte morphology, Myeloproliferative disorder, Thrombo...	ORPHA:521
Refractory Anemia With Excess Blasts	Acute myeloid leukemia, Abnormal circulating protein concentration, Anemia of inadequate producti...	ORPHA:86839
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency	Reticulocytosis, Anisocytosis, Splenomegaly, Leukocytosis, Poikilocytosis, Fava bean-induced hemo...	OMIM:300908
Sting-Associated Vasculopathy, Infantile-Onset	Elevated circulating C-reactive protein concentration, Joint stiffness, Leukopenia, Thrombocytosi...	OMIM:615934
Slc35A1-Cdg	Giant platelets, Abnormal platelet granules, Thrombocytopenia, Neutropenia	ORPHA:238459
Primary Intestinal Lymphangiectasia	Hypoproteinemia, Hypoalbuminemia, Hypocalcemia, Hypomagnesemia, Decreased proportion of CD3-posit...	ORPHA:90362
Hemophagocytic Lymphohistiocytosis, Familial, 1	Hyponatremia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Increased VLDL chole...	OMIM:267700
Bleeding Disorder, Platelet-Type, 15	Thrombocytopenia, Platelet anisocytosis, Increased mean platelet volume	OMIM:615193
Pelger-Huet Anomaly	Abnormality of neutrophils, Kyphosis, Hyposegmentation of neutrophil nuclei, Giant platelets, Neu...	OMIM:169400
Aicardi-Goutieres Syndrome 2	Lymphocytosis	OMIM:610181
Giant platelet syndrome with thrombocytopenia	Giant platelets, Thrombocytopenia	OMIM:137560
Myh9-Related Disease	Giant platelets, Neutrophil inclusion bodies, Congenital thrombocytopenia, Increased mean platele...	ORPHA:182050
Hermansky-Pudlak Syndrome 2	Aberrant melanosome maturation, Absent platelet dense granules, Fair hair, Decreased CD4:CD8 rati...	OMIM:608233
Eosinophilic Gastroenteritis	Eosinophilia, Elevated circulating C-reactive protein concentration, Leukocytosis, Hypoalbuminemi...	ORPHA:2070
Rhabdoid Tumor	Thrombocytopenia, Hypercalcemia, Anemia	ORPHA:69077
Thrombocythemia 1	Splenomegaly, Impaired ADP-induced platelet aggregation, Impaired collagen-induced platelet aggre...	OMIM:187950
Hypophosphatasia	Craniosynostosis, Recurrent fractures, Hypercalcemia, Anemia	ORPHA:436
Primary Myelofibrosis	Pancytopenia, Extramedullary hematopoiesis, Thrombocytopenia, Leukocytosis, Splenomegaly, Hepatos...	ORPHA:824
Sitosterolemia 1	Reticulocytosis, Hyperapobetalipoproteinemia, Thrombocytopenia, Splenomegaly, Giant platelets, El...	OMIM:210250
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes	T lymphocytopenia	OMIM:242870
Macrothrombocytopenia, Isolated, 2, Autosomal Dominant	Macrothrombocytopenia	OMIM:619840
Generalized Pustular Psoriasis	Hyponatremia, Elevated circulating C-reactive protein concentration, Leukocytosis, Arthritis, Hyp...	ORPHA:247353
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections	Decreased proportion of CD4-positive helper T cells, Reduced natural killer cell count, Eosinophilia	OMIM:243700
Anemia, Congenital Dyserythropoietic, Type Ib	Reticulocytosis, Anisocytosis, Anemia of inadequate production, Splenomegaly, Poikilocytosis, Ery...	OMIM:615631
Reni Syndrome	Lymphopenia, Hypoalbuminemia, Hyperpigmentation of the skin, Hypertriglyceridemia	OMIM:617575
Omenn Syndrome	Severe B lymphocytopenia, Eosinophilia, Splenomegaly, Thrombocytopenia, Hypoplasia of the thymus,...	OMIM:603554
Hemoglobin D Disease	Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A...	ORPHA:90039
Thrombocytopenia With Congenital Dyserythropoietic Anemia	Anisocytosis, Anemia of inadequate production, Macrothrombocytopenia, Poikilocytosis, Hypochromic...	ORPHA:67044
Cernunnos-Xlf Deficiency	Anemia, T lymphocytopenia, B lymphocytopenia, Lymphopenia, Thrombocytopenia	ORPHA:169079
Bernard-Soulier Syndrome	Impaired ristocetin-induced platelet aggregation, Giant platelets, Macrothrombocytopenia, Thrombo...	OMIM:231200
Dehydrated Hereditary Stomatocytosis 2	Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Increased mean corpuscular hemog...	OMIM:616689
Immunodeficiency 8 With Lymphoproliferation	Lymphopenia	OMIM:615401
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency	Lymphopenia, Decreased proportion of naive T cells, Abnormally low T cell receptor excision circl...	ORPHA:276
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1	T lymphocytopenia, Reduced natural killer cell count	OMIM:242860
Immunodeficiency 19	T lymphocytopenia, Abnormal B cell morphology, Abnormal natural killer cell morphology	OMIM:615617
Asplenia, Isolated Congenital	Asplenia, Thrombocytosis, Howell-Jolly bodies	OMIM:271400
B-Cell Expansion With Nfkb And T-Cell Anergy	Splenomegaly, Increased B cell count	OMIM:616452
Heme Oxygenase 1 Deficiency	Hemolytic anemia, Elevated circulating C-reactive protein concentration, Asplenia, Increased circ...	OMIM:614034
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation	Increased proportion of memory T cells, Increased B cell count, Hepatosplenomegaly	OMIM:618982
Congenital Enterovirus Infection	Abnormal macrophage morphology, Leukocytosis, Hyperammonemia, Anemia, Leukopenia, Hypoalbuminemia...	ORPHA:292
Hemophagocytic Lymphohistiocytosis, Familial, 2	Hyponatremia, Pancytopenia, Hypertriglyceridemia, Splenomegaly, Increased circulating ferritin co...	OMIM:603553
Dengue Fever	Leukopenia, Hypoproteinemia, Thrombocytopenia	ORPHA:99828
Focal Segmental Glomerulosclerosis 1	Hyperlipidemia, Hypoalbuminemia, Anemia	OMIM:603278
Autoimmune Lymphoproliferative Syndrome, Type Iii	Increased proportion autoreactive unresponsive CD21-/low B cells, Autoimmune hemolytic anemia, El...	OMIM:615559
Anemia, Sideroblastic, 3, Pyridoxine-Refractory	Anisocytosis, Conjugated hyperbilirubinemia, Splenomegaly, Increased circulating ferritin concent...	OMIM:616860
Immunodeficiency 68	Abscess, T lymphocytopenia, B lymphocytopenia, Septic arthritis, Abnormal natural killer cell count	OMIM:612260
Wolcott-Rallison Syndrome	Hyponatremia, Hyperammonemia, Iron deficiency anemia, Hypoalbuminemia, Lymphocytosis, Hyperbiliru...	ORPHA:1667
Bleeding Disorder, Platelet-Type, 21	Thrombocytopenia, Impaired ADP-induced platelet aggregation, Impaired platelet aggregation, Incre...	OMIM:617443
Eosinophilia, Familial	Anemia, Leukocytosis, Eosinophilia, Thrombocytopenia	OMIM:131400
Thrombocytopenia 4	Abnormal platelet volume, Thrombocytopenia	OMIM:612004
Rajab Interstitial Lung Disease With Brain Calcifications 2	Hypertriglyceridemia, Microcytic anemia, Hepatosplenomegaly, Hypoalbuminemia, Scoliosis, Joint hy...	OMIM:619013
Anemia, Congenital Dyserythropoietic, Type Iv	Decreased hemoglobin concentration, Hemolytic anemia, Circulating nucleated red blood cells, Reti...	OMIM:613673
Cholestasis, Progressive Familial Intrahepatic, 10	Conjugated hyperbilirubinemia, Splenomegaly, Hypoalbuminemia, Increased serum bile acid concentra...	OMIM:619868
Neutropenia-Monocytopenia-Deafness Syndrome	Abnormal macrophage morphology, Abnormality of neutrophils	ORPHA:2690
Dyskeratosis Congenita, Autosomal Recessive 8	Pancytopenia, Reduced natural killer cell count, B lymphocytopenia, Bone marrow hypocellularity	OMIM:620133
Combined Immunodeficiency, X-Linked	Decreased proportion of CD4-positive helper T cells, Decreased proportion of CD8-positive T cells	OMIM:312863
Albers-Schönberg Osteopetrosis	Abnormal leukocyte morphology, Joint dislocation, Osteomyelitis, Recurrent fractures, Mandibular ...	ORPHA:53
Papular Xanthoma	Hyperlipidemia, Histiocytosis	ORPHA:158008
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy	Iron deficiency anemia, Hypoalbuminemia, Thrombocytosis, Hypoproteinemia, Anemia	OMIM:226300
Nephropathy-Deafness-Hyperparathyroidism Syndrome	Hypercalcemia, Anemia	ORPHA:2668
Wiskott-Aldrich Syndrome 2	Decreased proportion of CD8-positive T cells, Thrombocytopenia	OMIM:614493
Avian Influenza	Elevated circulating creatine kinase concentration, Elevated circulating C-reactive protein conce...	ORPHA:454836
Hemochromatosis, Type 3	Increased circulating ferritin concentration, Elevated transferrin saturation, Anemia, Arthritis,...	OMIM:604250
Hepatoportal Sclerosis	Hypersplenism, Splenomegaly, Anemia, Leukopenia, Hypoalbuminemia, Hyperbilirubinemia, Thrombocyto...	ORPHA:64743
Combined Cellular And Humoral Immune Defects With Granulomas	T lymphocytopenia, B lymphocytopenia	OMIM:233650
Pgm3-Cdg	Hemolytic anemia, Osteomyelitis, Abnormal proportion of CD8-positive T cells, Eosinophilia, Abnor...	ORPHA:443811
Immunodeficiency 50	Lymphopenia, Neutropenia	OMIM:300988
Iron-Refractory Iron Deficiency Anemia	Elevated circulating hepcidin concentration, Poikilocytosis, Hypochromic microcytic anemia, Aniso...	OMIM:206200
Hypophosphatasia, Infantile	Elevated plasma pyrophosphate, Hypercalcemia, Craniosynostosis, Vertebral clefting, Increased sus...	OMIM:241500
Benign Cephalic Histiocytosis	Histiocytosis	ORPHA:157997
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked	Thrombocytopenia, Increased mean platelet volume	OMIM:300048
Immunodeficiency 76	Splenomegaly, Lymphopenia, B lymphocytopenia, T lymphocytopenia	OMIM:619164
Intermediate Osteopetrosis	Back pain, Sandwich appearance of vertebral bodies, Osteomyelitis, Recurrent fractures, Cortical ...	ORPHA:210110
Myeloproliferative Syndrome, Transient	Leukocytosis, Transient myeloproliferative syndrome	OMIM:159595
Acute Peripheral Arterial Occlusion	Limb pain, Leukocytosis, Lower limb pain	ORPHA:90064
Neutrophil Immunodeficiency Syndrome	Leukocytosis, Abnormality of neutrophil physiology	ORPHA:183707
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency	Lymphopenia, Hypoplasia of the thymus	OMIM:200900
Hemoglobin-Delta locus	Imbalanced hemoglobin synthesis, Anemia	OMIM:142000
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant	T lymphocytopenia, Abnormally low T cell receptor excision circle level	OMIM:618806
Gastrointestinal Defects And Immunodeficiency Syndrome 1	Impaired lymphocyte transformation with phytohemagglutinin, Autoimmune hemolytic anemia, Leukocyt...	OMIM:243150
Myalgia-Eosinophilia Syndrome Associated With Tryptophan	Arthritis, Lymphopenia, Eosinophilia, Limitation of joint mobility	ORPHA:2582
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome	Abnormal hemoglobin, Splenomegaly, Thrombocytopenia, Abnormal platelet function, Anemia	ORPHA:231393
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin	Oval macrocytosis, Anisocytosis, Poikilocytosis, Anemia of inadequate production	OMIM:603529
Congenital Disorder Of Glycosylation, Type Ih	Short neck, Elevated circulating creatinine concentration, Anemia, Hypoalbuminemia, Camptodactyly...	OMIM:608104
Syndromic Diarrhea	Hypopigmentation of hair, Increased mean platelet volume, Splenomegaly, Cafe-au-lait spot, Hypopl...	ORPHA:84064
Immunodeficiency 48	Absence of CD8-positive T cells, Splenomegaly	OMIM:269840
Hydrops, Lactic Acidosis, And Sideroblastic Anemia	Sideroblastic anemia, Extramedullary hematopoiesis, Anemia, Increased mean corpuscular volume, Hy...	OMIM:617021
Persistent Polyclonal B-Cell Lymphocytosis	Splenomegaly, Lymphocytosis	OMIM:606445
Triokinase And Fmn Cyclase Deficiency Syndrome	Hypoalbuminemia, Microcytic anemia	OMIM:618805
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome	Hemolytic anemia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Lymphop...	ORPHA:444463
Immunodeficiency 52	Decreased proportion of CD4-positive T cells, Autoimmune thrombocytopenia, Splenomegaly, Increase...	OMIM:617514
T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy	T lymphocytopenia, Decreased helper T cell proportion	OMIM:601705
Anemia, Congenital Dyserythropoietic, Type Ia	Hemolytic anemia, Reticulocytosis, Anemia of inadequate production, Anisocytosis, Splenomegaly, S...	OMIM:224120
Immunodeficiency 84	Perianal abscess, Splenomegaly, B lymphocytopenia	OMIM:619437
Chédiak-Higashi Syndrome	Large clumps of pigment irregularly distributed along hair shaft, Vacuolated lymphocytes, Neutrop...	ORPHA:167
Acute Myelomonocytic Leukemia	Thrombocytopenia, Leukocytosis, Eosinophilia, Anemia	ORPHA:517
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia	B lymphocytopenia, Abnormally low T cell receptor excision circle level	OMIM:618987
Amoebiasis Due To Entamoeba Histolytica	Liver abscess, Lung abscess, Leukocytosis, Hypoalbuminemia, Anemia	ORPHA:67
Familial Hemophagocytic Lymphohistiocytosis	Hypertriglyceridemia, Splenomegaly, Increased circulating ferritin concentration, Anemia, Hypoalb...	ORPHA:540
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities	Macrocytic anemia, Anisocytosis, Elliptocytosis, Bone marrow hypocellularity, Poikilocytosis, Neu...	OMIM:300835
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency	Impaired lymphocyte transformation with phytohemagglutinin, Absent natural killer cells, Hepatosp...	ORPHA:35078
Mucopolysaccharidosis-Plus Syndrome	Short neck, Splenomegaly, Flexion contracture, Anemia, Leukopenia, Hypoalbuminemia, Bone marrow h...	OMIM:617303
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies	Osteopenia, Hyperlordosis, Abnormal T cell subset distribution, Arthritis, B lymphocytopenia, Dec...	ORPHA:221139
Immunodeficiency 104	Splenomegaly, T lymphocytopenia	OMIM:608971
Griscelli Syndrome, Type 2	Accumulation of melanosomes in melanocytes, Silver-gray hair, Hepatosplenomegaly, Hemophagocytosi...	OMIM:607624
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative	Impaired lymphocyte transformation with phytohemagglutinin, T lymphocytopenia, Absent natural kil...	OMIM:600802
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome	Pancytopenia, Elevated circulating C-reactive protein concentration, Splenomegaly, Leukocytosis, ...	OMIM:615688
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias	Decreased proportion of CD4+CD25+ regulatory T cells, Autoimmune thrombocytopenia, Decreased prop...	OMIM:619846
Congenital Dyserythropoietic Anemia Type Iii	Anisocytosis, Abnormal erythrocyte morphology, Increased mean corpuscular volume, Increased serum...	ORPHA:98870
Beta-Ketothiolase Deficiency	Thrombocytosis, Leukocytosis, Hyperuricemia, Hyperammonemia	ORPHA:134
Immunodeficiency 95	Lymphopenia	OMIM:619773
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency	Elevated circulating creatine kinase concentration, Splenomegaly, Leukocytosis, Scoliosis, Hypopr...	OMIM:615895
Thalassemia, Beta+, Silent Allele	Reduced beta/alpha synthesis ratio	OMIM:187550
Familial Cold Autoinflammatory Syndrome 2	Elevated circulating C-reactive protein concentration, Splenomegaly, Leukocytosis, Arthritis, Low...	OMIM:611762
Cd8 Deficiency, Familial	Absence of CD8-positive T cells	OMIM:608957
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia	Thrombocytopenia, Elevated circulating C-reactive protein concentration, Lymphocytosis, Decreased...	OMIM:617718
Trichohepatoenteric Syndrome 1	Increased mean platelet volume, Avascular necrosis of the capital femoral epiphysis, Splenomegaly...	OMIM:222470
Hemophagocytic Lymphohistiocytosis, Familial, 3	Hypertriglyceridemia, Hepatosplenomegaly, Hemophagocytosis, Granulocytopenia, Anemia	OMIM:608898
Fetal Hemoglobin Quantitative Trait Locus 1	Persistence of hemoglobin F	OMIM:141749
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency	Abnormal B cell count, Abnormal T cell count, Autoimmune hemolytic anemia, Eosinophilia, Hepatosp...	ORPHA:331206
Alpha-Heavy Chain Disease	Splenomegaly, Hypocalcemia, Anemia	ORPHA:100025
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant	Hemolytic anemia, Increased mean platelet volume, Impaired ristocetin-induced platelet aggregatio...	OMIM:153670
Progressive Familial Intrahepatic Cholestasis	Abnormality of thrombocytes, Splenomegaly, Delayed skeletal maturation, Reduced bone mineral dens...	ORPHA:172
Bone Marrow Failure Syndrome 6	Osteopenia, Persistence of hemoglobin F, Increased mean corpuscular volume, Bone marrow hypocellu...	OMIM:618849
Neuroleptic Malignant Syndrome	Hyponatremia, Elevated circulating creatine kinase concentration, Leukocytosis, Hyperkalemia, Hyp...	ORPHA:94093
Congenital Disorder Of Glycosylation, Type Iig	Osteopenia, Thoracic scoliosis, Kyphoscoliosis, Short neck, Giant platelets, Anemia, Vertebral se...	OMIM:611209
Ras-Associated Autoimmune Leukoproliferative Disorder	Hemolytic anemia, Pancytopenia, Autoimmune thrombocytopenia, Splenomegaly, Monocytosis, Lymphocyt...	OMIM:614470
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive	T lymphocytopenia, B lymphocytopenia, Arthritis	OMIM:601457
Late-Onset Isolated Acth Deficiency	Normocytic anemia, Hyponatremia, Macrocytic anemia, Eosinophilia, Hypercalcemia, Hyperkalemia, Hy...	ORPHA:199299
Niemann-Pick Disease, Type B	Decreased HDL cholesterol concentration, Hypertriglyceridemia, Bone-marrow foam cells, Thrombocyt...	OMIM:607616
Immunodeficiency 82 With Systemic Inflammation	Decreased proportion of naive T cells, Osteomyelitis, Osteomalacia, Elevated circulating C-reacti...	OMIM:619381
Immunodeficiency 55	Absent natural killer cells, Lymphopenia, Neutropenia	OMIM:617827
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis	Lymphopenia, Autoimmune hemolytic anemia, Plasmacytosis	OMIM:247800
3-Hydroxy-3-Methylglutaric Aciduria	Leukocytosis, Hyperammonemia, Leukopenia, Hyperuricemia, Thrombocytosis, Anemia	ORPHA:20
Immunodeficiency 13	Lymphopenia, T lymphocytopenia, B lymphocytopenia, Decreased proportion of CD4-positive helper T ...	OMIM:615518
Rh Deficiency Syndrome	Hemolytic anemia, Macrocytic anemia, Reticulocytosis, Anisocytosis, Spherocytosis, Hepatosplenome...	ORPHA:71275
X-Linked Agammaglobulinemia	Recurrent cutaneous abscess formation, Osteomyelitis, Hypopigmented skin patches, Anemia, Arthrit...	ORPHA:47
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant	Splenomegaly, Increased proportion of transitional B cells, T lymphocytopenia, Decreased proporti...	OMIM:615513
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome	Persistence of hemoglobin F, Splenomegaly, Anemia	ORPHA:46532
Agammaglobulinemia 3, Autosomal Recessive	Neutropenia, Absent circulating B cells, Abnormal T cell morphology	OMIM:613501
Hemophagocytic Lymphohistiocytosis, Familial, 4	Hypertriglyceridemia, Splenomegaly, Increased circulating ferritin concentration, Anemia, Hemopha...	OMIM:603552
Agammaglobulinemia 8A, Autosomal Dominant	B lymphocytopenia	OMIM:616941
Alpha-Thalassemia-Myelodysplastic Syndrome	Microcytic anemia, Splenomegaly, Acute leukemia, Neutropenia, HbH hemoglobin, Thrombocytopenia	ORPHA:231401
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Autoimmune hemolytic anemia, Osteomyelitis, Autoimmune thrombocytopenia, Splenomegaly, Hypomagnes...	ORPHA:37042
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells	Hypersplenism, Splenomegaly, Pancytopenia, Decreased helper T cell proportion	OMIM:183350
Overhydrated Hereditary Stomatocytosis	Hemolytic anemia, Reticulocytosis, Decreased mean corpuscular hemoglobin concentration, Anisocyto...	ORPHA:3203
Immunodeficiency 62	Increased proportion of transitional B cells, Decreased proportion of memory B cells, B lymphocyt...	OMIM:618459
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1	Flexion contracture, Anisocytosis, Camptodactyly	OMIM:604273
Reticular Dysgenesis	Leukopenia, Congenital agranulocytosis, Lymphopenia, Hypoplasia of the thymus	OMIM:267500
Celiac Disease, Susceptibility To, 1	Macrocytic anemia, Osteoporosis, Rickets, Iron deficiency anemia, Hypocalcemia, Thrombocytosis	OMIM:212750
Immunodeficiency 109 With Lymphoproliferation	Splenomegaly, Pancytopenia, Hypertriglyceridemia, Absent circulating B cells	OMIM:620282
Autoimmune Lymphoproliferative Syndrome, Type Iia	Autoimmune hemolytic anemia, Eosinophilia, Autoimmune thrombocytopenia, Splenomegaly, Increased p...	OMIM:603909
Bleeding Disorder, Platelet-Type, 19	Thrombocytopenia, Macrothrombocytopenia, Anemia	OMIM:616176
Dominant Beta-Thalassemia	Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, Hyperpigmentat...	ORPHA:231226
Ulna Metaphyseal Dysplasia Syndrome	Delayed skeletal maturation, Abnormality of the vertebral column, Wrist pain, Hypercalcemia	OMIM:191420
Cinca Syndrome	Eosinophilia, Elevated circulating C-reactive protein concentration, Leukocytosis, Patellar overg...	OMIM:607115
Congenital Erythropoietic Porphyria	Osteopenia, Hemolytic anemia, Reticulocytosis, Hyperpigmentation of the skin, Anisocytosis, Splen...	ORPHA:79277
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome	Abscess, Abnormal CD4:CD8 ratio, Splenomegaly, Neutropenia, B lymphocytopenia, Intermittent throm...	OMIM:150550
Mu-Heavy Chain Disease	Abnormal B cell count, Splenomegaly, Osteoporosis, Osteolysis, Anemia	ORPHA:100024
Methemoglobinemia, Beta Type	Methemoglobinemia	OMIM:617971
Methemoglobinemia, Alpha Type	Methemoglobinemia	OMIM:617973
Hemoglobin H Disease	Splenomegaly, Hemolytic anemia, Reduced alpha/beta synthesis ratio, HbH hemoglobin	OMIM:613978
Ménétrier Disease	Hypoproteinemia, Hypoalbuminemia, Hypochromic microcytic anemia	ORPHA:2494
Paternal Uniparental Disomy Of Chromosome 1	Recurrent fractures, Hypercalcemia, Craniosynostosis, Increased blood urea nitrogen, Episodic hem...	ORPHA:251004
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis	Hemolytic anemia, Reticulocytosis, Anisocytosis, Leukocytosis, Hepatosplenomegaly, Decreased mean...	OMIM:618278
Bacterial Toxic-Shock Syndrome	Osteomyelitis, Elevated circulating creatine kinase concentration, Abscess, Elevated circulating ...	ORPHA:36234
Hyperparathyroidism, Neonatal Severe	Calcinosis, Hypercalcemia, Recurrent fractures, Splenomegaly, Hypophosphatemia, Anemia	OMIM:239200
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency	T lymphocytopenia, Lymphopenia, B lymphocytopenia	ORPHA:277
Lathosterolosis	Increased mean platelet volume, Acanthocytosis, Lumbosacral meningocele, Schistocytosis, Osteopor...	OMIM:607330
Acquired Partial Lipodystrophy	Lymphocytosis	ORPHA:79087
Leukodystrophy, Hypomyelinating, 24	Flexion contracture, B lymphocytopenia	OMIM:619851
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency	Eosinophilia, Autoimmune thrombocytopenia, Decreased proportion of CD8-positive T cells, Hepatosp...	ORPHA:169154
Neutropenia, Severe Congenital, 2, Autosomal Dominant	Monocytosis, B lymphocytopenia, Neutropenia	OMIM:613107
Proteasome-Associated Autoinflammatory Syndrome 2	Increased CD4:CD8 ratio, Elevated circulating C-reactive protein concentration, B lymphocytopenia...	OMIM:618048
Muckle-Wells Syndrome	Leukocytosis, Polyarticular arthritis, Elevated circulating C-reactive protein concentration	OMIM:191900
Osteopetrosis, Autosomal Recessive 1	Sandwich appearance of vertebral bodies, Pancytopenia, Increased bone mineral density, Osteomyeli...	OMIM:259700
Poems Syndrome	Sclerosis of hand bone, Sclerosis of foot bone, Sclerosis of skull base, Thrombocytosis, Scleroti...	ORPHA:2905
Brucellosis	Liver abscess, Lung abscess, Osteomyelitis, Elevated circulating C-reactive protein concentration...	ORPHA:1304
Takenouchi-Kosaki Syndrome	Thrombocytopenia, Scoliosis, Increased mean platelet volume, Camptodactyly	OMIM:616737
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Abnormality of retinal pigmentation, Lumbar hyperlordosis, Short neck, Joint stiffness, Flexion c...	ORPHA:505248
Familial Cold Autoinflammatory Syndrome 1	Arthritis, Leukocytosis, Elevated circulating C-reactive protein concentration	OMIM:120100
Deafness, Autosomal Dominant 1, With Or Without Thrombocytopenia	Impaired platelet aggregation, Macrothrombocytopenia, Thrombocytopenia	OMIM:124900
Autoinflammatory Syndrome, Familial, Behcet-Like 1	Hemolytic anemia, Lymphopenia, Thrombocytopenia, Polyarticular arthritis	OMIM:616744
Oculoskeletodental Syndrome	Hypercalcemia, Splenomegaly, Delayed skeletal maturation, Elbow flexion contracture, Thoracic kyp...	OMIM:618440
Schnitzler Syndrome	Increased bone mineral density, Splenomegaly, Leukocytosis, Bone pain, Arthritis, Anemia	ORPHA:37748
Autoerythrocyte Sensitization Syndrome	Impaired platelet adhesion, Autoimmune thrombocytopenia, Abnormal erythrocyte morphology, Thrombo...	ORPHA:324636
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome	Decreased proportion of CD4-positive helper T cells, Decreased proportion of CD8-positive T cells...	OMIM:617241
Agammaglobulinemia 2, Autosomal Recessive	Absent circulating B cells, Abnormal T cell morphology	OMIM:613500
Systemic Lupus Erythematosus 17	Leukopenia, Lymphopenia, Thrombocytopenia, Autoimmune thrombocytopenia	OMIM:301080
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency	Osteopenia, Increased T cell count, Increased B cell count	ORPHA:98813
Diamond-Blackfan Anemia	Acute myeloid leukemia, Pure red cell aplasia, Short neck, Erythroid hypoplasia, Reticulocytopeni...	ORPHA:124
Cogan Syndrome	Thrombocytosis, Leukocytosis, Anemia	ORPHA:1467
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis	Osteopenia, Neutrophilia, Osteomyelitis, Abscess, Elevated circulating C-reactive protein concent...	OMIM:612852
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome	Pancytopenia, Abnormal lymphocyte count, Thrombocytopenia, Abnormal natural killer cell count, He...	ORPHA:79124
Immunodeficiency, Common Variable, 13	Acute lymphoblastic leukemia, Pancytopenia, B lymphocytopenia	OMIM:616873
Congenital Disorder Of Glycosylation, Type Ia	Osteopenia, Kyphosis, Flexion contracture, Hypoalbuminemia, Hypocholesterolemia, Thrombocytosis	OMIM:212065
Retinitis Pigmentosa And Erythrocytic Microcytosis	Anisocytosis, Decreased serum iron, Decreased mean corpuscular volume, Elliptocytosis, Poikilocyt...	OMIM:616959
Leptospirosis	Hyperproteinemia, Thrombocytopenia	ORPHA:509
Beta-Thalassemia	Abnormal hemoglobin, Microcytic anemia, Splenomegaly, Reduced bone mineral density, Anemia, Abnor...	ORPHA:848
Agammaglobulinemia 8B, Autosomal Recessive	Pancytopenia, Splenomegaly, Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, B Acu...	OMIM:619824
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy	Perianal abscess, Thrombocytosis, Leukocytosis, Hypochromic anemia	OMIM:618213
Cyanosis, Transient Neonatal	Reticulocytosis, Methemoglobinemia, Anemia	OMIM:613977
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia	Joint dislocation, Joint stiffness, Splenomegaly, Reduced bone mineral density, Leukopenia, Lymph...	OMIM:620210
Multicentric Reticulohistiocytosis	Arthritis, Histiocytosis	ORPHA:139436
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease	Hypertriglyceridemia, Splenomegaly, Thrombocytopenia, Increased circulating ferritin concentratio...	OMIM:613101
Beta-Thalassemia, Dominant Inclusion Body Type	Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, Erythrocyte inclu...	OMIM:603902
Acetophenetidin Sensitivity	Hemolytic anemia, Methemoglobinemia	OMIM:200300
Alg12-Cdg	Hyponatremia, Ulnar deviation of the wrist, Abnormal bone ossification, Camptodactyly, B lymphocy...	ORPHA:79324
Chronic Bilirubin Encephalopathy	Hemolytic anemia, Hypernatremia, Hypoalbuminemia, Neonatal hyperbilirubinemia	ORPHA:529808
Acute Bilirubin Encephalopathy	Hemolytic anemia, Hypernatremia, Hypoalbuminemia, Neonatal hyperbilirubinemia	ORPHA:529799
Noonan Syndrome 12	Lymphopenia, Spinal canal stenosis, Thrombocytopenia	OMIM:618624
Combined Immunodeficiency Due To Partial Rag1 Deficiency	Autoimmune hemolytic anemia, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, ...	ORPHA:231154
Diamond-Blackfan Anemia 1	Macrocytic anemia, Delayed cranial suture closure, Congenital hypoplastic anemia, Short neck, Ret...	OMIM:105650
Immunodeficiency 44	Lymphopenia	OMIM:616636
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form	Abnormal circulating selenium concentration, Decreased serum iron, Flexion contracture, Decreased...	ORPHA:89842
Transcobalamin Deficiency	Pancytopenia, Lymphopenia, Thrombocytopenia, Neutropenia	ORPHA:859
Hemoglobin E Disease	Drug-sensitive hemolytic anemia, Abnormal hemoglobin, Anemia of inadequate production, Splenomega...	ORPHA:2133
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis	Decreased proportion of CD4-positive helper T cells, Decreased proportion of CD8-positive T cells	OMIM:611926
Hemoglobin C-Beta-Thalassemia Syndrome	Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia	ORPHA:231242
Microcephaly-Cervical Spine Fusion Anomalies Syndrome	Hyperlordosis, Short neck, Kyphosis, Fused cervical vertebrae, Abnormal reticulocyte morphology	ORPHA:2522
Johanson-Blizzard Syndrome	Delayed skeletal maturation, Hypoproteinemia, Anemia	ORPHA:2315
Combined Immunodeficiency Due To Dock8 Deficiency	T lymphocytopenia, B lymphocytopenia	ORPHA:217390
Agammaglobulinemia 10, Autosomal Dominant	Transient neutropenia, Absent circulating B cells	OMIM:619707
Acute Adrenal Insufficiency	Normocytic anemia, Hyponatremia, Hypercalcemia, Hyperkalemia, Increased circulating renin level, ...	ORPHA:95409
Acute Monoblastic/Monocytic Leukemia	Acute monocytic leukemia, Ankle swelling, Leukocytosis, Lymphocytosis, Hypochromic anemia, Anemia	ORPHA:514
Juvenile Temporal Arteritis	Leukocytosis, Eosinophilia	ORPHA:26137
Unclassified Myelodysplastic Syndrome	Acute myeloid leukemia, Leukocytosis, Bone marrow hypocellularity	ORPHA:98827
Immunodeficiency 70	Decreased proportion of CD4-positive helper T cells, B lymphocytopenia	OMIM:618969
Generalized Eruptive Histiocytosis	Spotty hyperpigmentation, Leukemia, Hypereosinophilia, Histiocytosis	ORPHA:157991
Bernard-Soulier Syndrome	Decreased platelet glycoprotein Ib-IX-V, Giant platelets, Macrothrombocytopenia, Impaired ristoce...	ORPHA:274
Relapsing Fever	Neutrophilia, Elevated circulating C-reactive protein concentration, Leukocytosis, Elevated circu...	ORPHA:91547
Familial Thrombocytosis	Acute myeloid leukemia, Thrombocytosis, Chronic myelogenous leukemia, Splenomegaly	ORPHA:71493
Gamma-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R5	Lumbar hyperlordosis, Abnormal macrophage morphology, Elevated circulating creatine kinase concen...	ORPHA:353
Beta-Thalassemia Intermedia	Osteopenia, Increased HbA2 hemoglobin, Extramedullary hematopoiesis, Anemia of inadequate product...	ORPHA:231222
Immunodeficiency 26 With Or Without Neurologic Abnormalities	T lymphocytopenia, B lymphocytopenia, Abnormal natural killer cell morphology	OMIM:615966
Pseudo-Torch Syndrome 3	Increased circulating ferritin concentration, Leukocytosis, Congenital thrombocytopenia, Anemia	OMIM:618886
Secondary Intestinal Lymphangiectasia	Decreased prealbumin level, Reduced circulating transferrin concentration, Hypoalbuminemia, Hypoc...	ORPHA:90363
Kenny-Caffey Syndrome, Type 1	Delayed closure of the anterior fontanelle, Delayed skeletal maturation, Hypocalcemia, Hypomagnes...	OMIM:244460
Interstitial Lung And Liver Disease	Thrombocytosis, Hyperammonemia, Intraalveolar phospholipid accumulation, Anemia	OMIM:615486
Osteopetrosis, Autosomal Recessive 5	Pancytopenia, Extramedullary hematopoiesis, Increased bone mineral density, Splenomegaly, Leukocy...	OMIM:259720
Delta-Beta-Thalassemia	Abnormal hemoglobin, Anemia, Microcytic anemia	ORPHA:231237
Autosomal Dominant Hypophosphatemic Rickets	Osteomalacia, Bone pain, Rickets, Iron deficiency anemia, Hypocalcemia, Hypophosphatemia, Tooth a...	ORPHA:89937
Adamantinoma	Pathologic fracture, Bone pain, Hypercalcemia	ORPHA:55881
Agammaglobulinemia 6, Autosomal Recessive	B lymphocytopenia, Abnormal T cell morphology	OMIM:612692
Cinca Syndrome	Joint dislocation, Abnormality of thrombocytes, Abnormality of neutrophils, Elevated circulating ...	ORPHA:1451
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)	Elevated circulating alpha-fetoprotein concentration, Splenomegaly, Hypoalbuminemia, Hyperbilirub...	OMIM:251880
Wiskott-Aldrich Syndrome	Impaired lymphocyte transformation with phytohemagglutinin, Autoimmune hemolytic anemia, Absent m...	OMIM:301000
Marburg Hemorrhagic Fever	Back pain, Lymphopenia, Reticulocytosis, Elevated circulating creatine kinase concentration, Hype...	ORPHA:99826
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss	Splenomegaly, Hypocalcemia, Elevated circulating gamma-aminobutyric acid concentration	OMIM:619658
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome	Reticulocytosis, HbS hemoglobin, Asplenia, Splenomegaly, Splenic infarction, Hypochromic microcyt...	ORPHA:251380
Storage Pool Platelet Disease	Decreased mean platelet volume, Acute leukemia	OMIM:185050
Ataxia-Pancytopenia Syndrome	Pancytopenia, Abnormal macrophage morphology, Abnormality of neutrophils, Splenomegaly, Acute mye...	ORPHA:2585
Insulin-Resistance Syndrome Type B	Abnormal circulating lipid concentration, Abnormal circulating fatty-acid concentration, Osteoart...	ORPHA:2298
Idiopathic Hypereosinophilic Syndrome	Neutrophilia, Eosinophilia, Ankle swelling, Thrombocytopenia, Leukocytosis, Splenomegaly, Hepatos...	ORPHA:3260
Sea-Blue Histiocyte Disease	Splenomegaly, Thrombocytopenia, Sea-blue histiocytosis	OMIM:269600
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form	Craniosynostosis, Depigmentation/hyperpigmentation of skin, Generalized reticulate brown pigmenta...	ORPHA:79396
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type	Short neck, Reduced bone mineral density, Iron deficiency anemia, Abnormal bone ossification, Abn...	ORPHA:93315
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency	Decreased HDL cholesterol concentration, Hypoalbuminemia, Hyperthreoninemia, Abnormal circulating...	ORPHA:247598
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia	Pancytopenia, Impaired neutrophil chemotaxis, Neutropenia, Hepatosplenomegaly, Leukopenia, T lymp...	OMIM:618986
Hypermethioninemia With S-Adenosylhomocysteine Hydrolase Deficiency	Increased circulating creatine kinase MM isoform, Hypoalbuminemia, Hypermethioninemia	OMIM:613752
Addison Disease	Normocytic anemia, Hyponatremia, Hypercalcemia, Thiamine-responsive megaloblastic anemia, Hyperka...	ORPHA:85138
Congenital Disorder Of Glycosylation, Type Iif	Decreased platelet glycoprotein Ib, Macrothrombocytopenia, Thrombocytopenia, Neutropenia	OMIM:603585
Lymphoproliferative Syndrome 1	Pancytopenia, Autoimmune hemolytic anemia, Elevated circulating C-reactive protein concentration,...	OMIM:613011
Macrothrombocytopenia, Isolated, 1, Autosomal Dominant	Impaired platelet aggregation, Macrothrombocytopenia	OMIM:613112
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 6	Pancytopenia, Reticular hyperpigmentation, Premature graying of hair, Bone marrow hypocellularity...	OMIM:619767
Amed Syndrome, Digenic	Acute myeloid leukemia, Hyperpigmentation of the skin, Anemia, Leukopenia, Bone marrow hypocellul...	OMIM:619151
Leukocyte Adhesion Deficiency, Type Iii	Extramedullary hematopoiesis, Abnormality of thrombocytes, Splenomegaly, Leukocytosis, Hepatosple...	OMIM:612840
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5	Vertebral fusion, Elbow contracture, Elevated circulating creatine kinase concentration, Hyperlor...	OMIM:606612
Aicardi-Goutieres Syndrome 9	Hemolytic anemia, Osteoporosis, Hepatosplenomegaly, Hypoalbuminemia, Scoliosis, Anemia	OMIM:619487
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure	Normochromic anemia, Hypoalbuminemia, Thrombocytopenia	OMIM:254900
Immunodeficiency 36 With Lymphoproliferation	Splenomegaly, Chronic lymphatic leukemia, Increased proportion of transitional B cells, Decreased...	OMIM:616005
Abetalipoproteinemia	Osteopenia, Reticulocytosis, Decreased HDL cholesterol concentration, Abnormality of retinal pigm...	ORPHA:14
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia	Splenomegaly, Leukocytosis, Intraalveolar phospholipid accumulation	OMIM:618042
Epidermodysplasia Verruciformis, Susceptibility To, 5	T lymphocytopenia, Lymphopenia	OMIM:618309
Orotic Aciduria	Anisocytosis, Folate-unresponsive megaloblastic anemia, Pyrimidine-responsive megaloblastic anemi...	OMIM:258900
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome	Hypoalbuminemia, Craniosynostosis	ORPHA:88643
Purine Nucleoside Phosphorylase Deficiency	Autoimmune hemolytic anemia, Hypouricemia, Autoimmune thrombocytopenia, Abnormal T cell morpholog...	ORPHA:760
Wilson Disease	Hemolytic anemia, Decreased circulating ceruloplasmin concentration, Hypouricemia, Osteomalacia, ...	OMIM:277900
Oculoskeletodental Syndrome	Hypercalcemia, Hyperlordosis, Delayed skeletal maturation, Thoracic kyphosis, Hypocalcemia, Scoli...	ORPHA:557003
Lipodystrophy, Congenital Generalized, Type 3	Hypertriglyceridemia, Splenomegaly, Hepatosplenomegaly, Hypocalcemia, Hypercholesterolemia	OMIM:612526
Autoinflammation, Panniculitis, And Dermatosis Syndrome	Neutrophilia, Elevated circulating C-reactive protein concentration, Leukocytosis, Joint swelling...	OMIM:617099
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency	Flexion contracture, Hypoalbuminemia, Hepatosplenomegaly	ORPHA:367
Immunodeficiency 64 With Lymphoproliferation	Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of CD4-pos...	OMIM:618534
Lymphoproliferative Syndrome, X-Linked, 2	Pancytopenia, Hypertriglyceridemia, Aplastic anemia, Splenomegaly, Increased circulating ferritin...	OMIM:300635
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes	Anemia, Hypokalemia, Hypocalcemia, Hypomagnesemia, Hyperpigmentation of the skin	OMIM:175500
Colchicine Poisoning	Hyponatremia, Leukocytosis, Abnormal blood ion concentration, Hypophosphatemia, Hypokalemia, Hypo...	ORPHA:31824
Herpes Simplex Virus Encephalitis	Hyponatremia, Leukocytosis, Neutrophilia, Elevated circulating C-reactive protein concentration	ORPHA:1930
Psoriasis 14, Pustular	Neutrophilia, Elevated circulating C-reactive protein concentration, Leukocytosis, Oligoarthritis...	OMIM:614204
Fanconi Anemia, Complementation Group I	Short neck, Fused cervical vertebrae, Bone marrow hypocellularity, Neutropenia, Cafe-au-lait spot	OMIM:609053
Combined Immunodeficiency Due To Zap70 Deficiency	Autoimmune hemolytic anemia, Eosinophilia, Autoimmune thrombocytopenia, Absence of CD8-positive T...	ORPHA:911
Activated Pi3K-Delta Syndrome	Splenomegaly, B lymphocytopenia, Arthritis	ORPHA:397596
Neutropenia, Severe Congenital, X-Linked	Monocytopenia, Decreased CD4:CD8 ratio, Neutropenia	OMIM:300299
Infantile Myofibromatosis	Hypercalcemia, Abnormal sacrum morphology, Limitation of joint mobility, Osteolysis, Irregular hy...	ORPHA:2591
Analbuminemia	Osteoporosis, Elevated circulating transferrin concentration, Increased LDL cholesterol concentra...	OMIM:616000
Alg6-Cdg	Hypoalbuminemia, Decreased LDL cholesterol concentration, Scoliosis	ORPHA:79320
Alg1-Cdg	Kyphosis, Limitation of joint mobility, Hypoalbuminemia, Scoliosis	ORPHA:79327
Alpha-Thalassemia	Hemolytic anemia, Abnormal hemoglobin, Microcytic anemia, Hypersplenism, Splenomegaly, Anemia	ORPHA:846
Myopathy With Extrapyramidal Signs	Extremely elevated creatine kinase, Joint laxity, Elevated circulating creatine kinase concentrat...	OMIM:615673
Immunodeficiency 81	Decreased proportion of CD4-positive T cells, Recurrent cutaneous abscess formation, Autoimmune h...	OMIM:619374
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome	Increased mean platelet volume, Flexion contracture, Scoliosis, Camptodactyly, Thrombocytopenia	ORPHA:487796
Spinocerebellar Ataxia With Axonal Neuropathy Type 1	Hypercholesterolemia, Hypoalbuminemia	ORPHA:94124
Griscelli Syndrome Type 2	Hypopigmentation of hair, Pancytopenia, Partial albinism, Splenomegaly, Hyperlipidemia, Premature...	ORPHA:79477
Microcephaly With Cervical Spine Fusion Anomalies	Vertebral fusion, Spinal instability	OMIM:251250
Nephrotic Syndrome, Type 2	Hyperlipidemia, Hypoalbuminemia	OMIM:600995
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly	Splenomegaly, Hypoproteinemia, Hypocalcemia, Short neck	OMIM:235255
Hermansky-Pudlak Syndrome 9	Abnormal platelet aggregation, Ocular albinism, Leukopenia, Hypopigmentation of the skin, Thrombo...	OMIM:614171
Acute Panmyelosis With Myelofibrosis	Acute myeloid leukemia, Low back pain, Pancytopenia, Splenomegaly, Acute myelomonocytic leukemia,...	ORPHA:86843
Coenzyme Q10 Deficiency, Primary, 3	Hypoalbuminemia	OMIM:614652
Juvenile Polyposis Syndrome	Hypokalemia, Hypoalbuminemia, Anemia	OMIM:174900
Adult-Onset Still Disease	Neutrophilia, Elevated circulating C-reactive protein concentration, Splenomegaly, Leukocytosis, ...	ORPHA:829
Sarcoidosis	Hemolytic anemia, Hyperpigmentation of the skin, Eosinophilia, Hypercalcemia, Increased T cell co...	ORPHA:797
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1	Hypercholesterolemia, Hypoalbuminemia	OMIM:607250
Blue Diaper Syndrome	Abnormal circulating tryptophan concentration, Hypercalcemia	OMIM:211000
Subacute Inflammatory Demyelinating Polyneuropathy	Limitation of movement at ankles, Leukocytosis, Limited elbow flexion, Limited hip movement	ORPHA:206594
Severe Combined Immunodeficiency, X-Linked	Impaired lymphocyte transformation with phytohemagglutinin, T lymphocytopenia, Hypoplasia of the ...	OMIM:300400
Immunodeficiency, Common Variable, 1	Splenomegaly, B lymphocytopenia, Neutropenia in presence of anti-neutropil antibodies, Decreased ...	OMIM:607594
Adult Idiopathic Neutropenia	Abnormal neutrophil count, Monocytosis, Neutropenia, Monocytopenia, Lymphopenia	ORPHA:2688
Nephrotic Syndrome, Type 15	Hypoalbuminemia	OMIM:617609
Immunodeficiency 98 With Autoinflammation, X-Linked	Autoimmune hemolytic anemia, Splenomegaly, B lymphocytopenia, Bone marrow hypocellularity, Hemoph...	OMIM:301078
Diarrhea 13	Hypoalbuminemia	OMIM:620357
Primary Familial Polycythemia	Polycythemia, Abnormal hemoglobin	ORPHA:90042
Aggressive Systemic Mastocytosis	Pancytopenia, Hypersplenism, Thrombocytopenia, Leukocytosis, Bone pain, Osteoporosis, Osteolysis,...	ORPHA:98850
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies	Osteopenia, Delayed skeletal maturation, Hypercalcemia, Craniosynostosis	OMIM:614732
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7	Osteopenia, Premature graying of hair, Anemia, Lymphopenia, Thrombocytopenia	OMIM:620365
Al Amyloidosis	Increased circulating NT-proBNP concentration, Howell-Jolly bodies, Hypoalbuminemia, Anemia	ORPHA:85443
Cryptogenic Organizing Pneumonia	Leukocytosis, Neutrophilia, Elevated circulating C-reactive protein concentration	ORPHA:1302
Galloway-Mowat Syndrome 6	Delayed skeletal maturation, Hypoalbuminemia	OMIM:618347
Focal Segmental Glomerulosclerosis 6	Hypoalbuminemia	OMIM:614131
Immunodeficiency 49	Impaired lymphocyte transformation with phytohemagglutinin, Eosinophilia, T lymphocytopenia, Abno...	OMIM:617237
Immunodeficiency By Defective Expression Of Mhc Class Ii	Pancytopenia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Abnormal CD4:CD8 ratio, N...	ORPHA:572
Immunodeficiency 93 And Hypertrophic Cardiomyopathy	Decreased proportion of class-switched memory B cells, B lymphocytopenia, Absent circulating B ce...	OMIM:619705
Immunodeficiency 17	Decreased proportion of CD8-positive T cells, Autoimmune hemolytic anemia, Abnormal B cell morpho...	OMIM:615607
Diarrhea 7, Protein-Losing Enteropathy Type	Hypercholesterolemia, Hyperlipidemia, Hypoalbuminemia	OMIM:615863
Spondylocostal Dysostosis 1, Autosomal Recessive	Back pain, Vertebral fusion, Block vertebrae, Abnormal odontoid process morphology, Kyphoscoliosi...	OMIM:277300
Sea-Blue Histiocytosis	Splenomegaly, Thrombocytopenia, Sea-blue histiocytosis, Hypopigmentation of the skin, Hyperpigmen...	ORPHA:158029
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis	Abnormally low T cell receptor excision circle level, Macrocytic anemia, Neutrophilia, Leukocytos...	OMIM:608203
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
Myopathy, Tubular Aggregate, 2	Hypocalcemia, Elevated circulating creatine kinase concentration, Ankle flexion contracture, Spin...	OMIM:615883
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome	Short neck, Splenomegaly, Hepatosplenomegaly, Hypocalcemia, Hypoproteinemia	ORPHA:1655
Isotretinoin-Like Syndrome	Lymphopenia, Hypocalcemia	ORPHA:2306
T-Cell Lymphoma, Subcutaneous Panniculitis-Like	Pancytopenia, Hypertriglyceridemia, Splenomegaly, Increased circulating ferritin concentration, H...	OMIM:618398
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia	Hypercholesterolemia, Hypoalbuminemia, Elevated circulating creatine kinase concentration, Scoliosis	OMIM:208920
Nephrotic Syndrome, Type 9	Hypoalbuminemia	OMIM:615573
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency	Decreased proportion of memory B cells, B lymphocytopenia	ORPHA:70593
Diffuse Alveolar Hemorrhage	Thrombocytopenia, Leukocytosis, Elevated circulating creatinine concentration, Anemia	ORPHA:90060
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency	Autoimmune hemolytic anemia, Severe B lymphocytopenia, Aplasia of the thymus, Eosinophilia, Autoi...	OMIM:102700
Hyperparathyroidism 4	Osteopenia, Hypercalcemia	OMIM:617343
Thrombocytopenia 1	Joint hemorrhage, Congenital thrombocytopenia, Decreased mean platelet volume, Intermittent throm...	OMIM:313900
Vertebral Fusion, Posterior Lumbosacral, With Blepharoptosis	Posterior fusion of lumbosacral vertebrae	OMIM:192800
Galloway-Mowat Syndrome 8	Hypoalbuminemia	OMIM:618349
Tularemia	Brain abscess, Leukocytosis, Anemia, Thrombocytopenia, Cutaneous abscess	ORPHA:3392
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2	B lymphocytopenia	OMIM:614069
Rajab Interstitial Lung Disease With Brain Calcifications 1	Osteopenia, Joint laxity, Pancytopenia, Delayed skeletal maturation, Rickets, Reduced bone minera...	OMIM:613658
Granulomatous Slack Skin	Hypercalcemia	ORPHA:33111
Deafness-Lymphedema-Leukemia Syndrome	Abnormal neutrophil count, Splenomegaly, Leukocytosis, Acute leukemia, Myeloproliferative disorde...	ORPHA:3226
Idiopathic Chronic Eosinophilic Pneumonia	Leukocytosis, Hypereosinophilia, Elevated circulating C-reactive protein concentration	ORPHA:2902
Livedoid Vasculopathy	Pancytopenia, Enlargement of the ankles, Hyperpigmentation of the skin, Lower limb pain, Leukocyt...	ORPHA:542643
Agammaglobulinemia 9, Autosomal Recessive	Thrombocytopenia, Absent circulating B cells	OMIM:619693
Autoimmune Lymphoproliferative Syndrome	Reticulocytosis, Autoimmune hemolytic anemia, Eosinophilia, Autoimmune thrombocytopenia, Hyperspl...	ORPHA:3261
Alpha-Thalassemia Myelodysplasia Syndrome	Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia	OMIM:300448
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis	Hyponatremia, Leukocytosis, Thrombocytopenia	ORPHA:83601
Ivic Syndrome	Joint stiffness, Leukocytosis, Radioulnar synostosis, Scoliosis, Thrombocytopenia, Synostosis of ...	ORPHA:2307
Hereditary Chronic Pancreatitis	Leukocytosis, Elevated circulating C-reactive protein concentration	ORPHA:676
Liver Disease, Severe Congenital	Hyponatremia, Joint laxity, Elevated circulating alpha-fetoprotein concentration, Thrombocytopeni...	OMIM:619991
Thrombocytopenia 3	Thrombocytopenia, Decreased mean platelet volume	OMIM:273900
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation	Aplasia of the thymus, Eosinophilia, Splenomegaly, B lymphocytopenia, Abnormally low T cell recep...	OMIM:602450
Purine Nucleoside Phosphorylase Deficiency	Autoimmune hemolytic anemia, Hypouricemia, Increased circulating guanosine concentration, Pure re...	OMIM:613179
Hypercalcemia, Infantile, 2	Hypercalcemia, Hypophosphatemia	OMIM:616963
Spherocytosis, Type 5	Hemolytic anemia, Reticulocytosis, Splenomegaly, Spherocytosis, Abnormal platelet count, Abnormal...	OMIM:612690
Majeed Syndrome	Increased bone mineral density, Osteomyelitis, Congenital hypoplastic anemia, Splenomegaly, Leuko...	ORPHA:77297
Fanconi Anemia, Complementation Group V	Elevated circulating alpha-fetoprotein concentration, Thrombocytopenia, Bone marrow hypocellulari...	OMIM:617243
Proteasome-Associated Autoinflammatory Syndrome 3	Hypertriglyceridemia, Splenomegaly, Flexion contracture, Anemia, Arthritis, Lymphopenia, Thromboc...	OMIM:617591
Paget Disease Of Bone 2, Early-Onset	Sandwich appearance of vertebral bodies, Hypercalcemia, Fractures of the long bones, Bone pain, O...	OMIM:602080
Thrombocytopenia-Absent Radius Syndrome	Aplasia/Hypoplasia of the patella, Hip dislocation, Fused cervical vertebrae, Patellar dislocatio...	ORPHA:3320
Spondyloenchondrodysplasia With Immune Dysregulation	Lumbar hyperlordosis, Hypermelanotic macule, Kyphoscoliosis, Autoimmune thrombocytopenia, Increas...	OMIM:607944
Mevalonic Aciduria	Normocytic hypoplastic anemia, Elevated circulating creatine kinase concentration, Elevated circu...	OMIM:610377
T-Cell Immunodeficiency With Thymic Aplasia	Aplasia of the thymus, Hepatosplenomegaly, T lymphocytopenia, Abnormally low T cell receptor exci...	OMIM:242700
Cartilage-Hair Hypoplasia	Abnormality of retinal pigmentation, Abnormally ossified vertebrae, Biconvex vertebral bodies, Sa...	ORPHA:175
T-Cell Immunodeficiency With Thymic Aplasia	Decreased proportion of naive T cells, Aplasia of the thymus, T lymphocytopenia, Coombs-positive ...	ORPHA:83471
Osteopetrosis With Renal Tubular Acidosis	Pancytopenia, Elevated circulating creatine kinase concentration, Recurrent fractures, Anemia, Le...	ORPHA:2785
Leukocyte Adhesion Deficiency	Acute myeloid leukemia, Osteomyelitis, Perianal abscess, Leukocytosis, Bone marrow hypocellularit...	ORPHA:2968
Immunodeficiency 25	T lymphocytopenia, Autoimmune hemolytic anemia, Eosinophilia	OMIM:610163
Primary Sclerosing Cholangitis	Osteopenia, Abnormal eosinophil morphology, Splenomegaly, Osteoporosis, Hepatosplenomegaly, Hypoa...	ORPHA:171
Acute Promyelocytic Leukemia	Pancytopenia, Leukocytosis, Bone pain, Anemia, Leukopenia, Neutropenia, Thrombocytopenia	ORPHA:520
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase	Methemoglobinemia, Polycythemia	OMIM:250800
Immunodeficiency 40	T lymphocytopenia, Eosinophilic granuloma, Thrombocytopenia	OMIM:616433
Staphylococcal Necrotizing Pneumonia	Leukopenia, Leukocytosis, Neutrophilia, Elevated circulating C-reactive protein concentration	ORPHA:36238
Non-Functioning Paraganglioma	Hypercalcemia	ORPHA:94080
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity	Hemolytic anemia, Autoimmune hemolytic anemia, Decreased proportion of CD4+CD25+ regulatory T cel...	OMIM:606367
Familial Isolated Hyperparathyroidism	Osteopenia, Hypercalcemia, Hypophosphatemia, Generalized osteoporosis, Chondrocalcinosis	ORPHA:99879
Acute Radiation Syndrome	Hyperpigmentation of the skin, Granulocytopenia, Lymphopenia, Hypopigmentation of the skin, Throm...	ORPHA:454831
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5	Vertebral fusion, Elevated circulating creatine kinase concentration, Hyperlordosis, Kyphosis, Ac...	OMIM:607155
Diffuse Cutaneous Mastocytosis	Myeloproliferative disorder, Abnormality of the spleen, Lymphocytosis, Mixed hypo- and hyperpigme...	ORPHA:79456
Anterior Cutaneous Nerve Entrapment Syndrome	Back pain, Leukocytosis	ORPHA:51890
Hyperparathyroidism 1	Hypercalcemia	OMIM:145000
Erythroderma, Lethal Congenital	Hypoalbuminemia	OMIM:227090
Fibronectin Glomerulopathy	Hypoalbuminemia	ORPHA:84090
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency	Elevated creatine kinase after exercise, Hypercalcemia	ORPHA:284426
Shwachman-Diamond Syndrome 1	Acute myeloid leukemia, Pancytopenia, Ovoid vertebral bodies, Delayed skeletal maturation, Persis...	OMIM:260400
Juvenile Polyposis Of Infancy	Refractory anemia, Hypoalbuminemia, Anemia	ORPHA:79076
Kbg Syndrome	Vertebral fusion, Persistent open anterior fontanelle, Short neck, Delayed skeletal maturation, T...	ORPHA:2332
Hypercalcemia, Infantile, 1	Hypercalcemia	OMIM:143880
High Altitude Pulmonary Edema	Leukocytosis	ORPHA:330012
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3	Vertebral fusion, Sacral dimple, Vertebral segmentation defect	OMIM:618845
Lead Poisoning	Decreased HDL cholesterol concentration, Delayed skeletal maturation, Imbalanced hemoglobin synth...	ORPHA:330015
Leukocyte Adhesion Deficiency, Type I	Leukocytosis, Osteomyelitis, Rectal abscess, Elevated circulating C-reactive protein concentration	OMIM:116920
Omenn Syndrome	Eosinophilia, Splenomegaly, Leukocytosis, Abnormal lymphocyte morphology, Anemia	ORPHA:39041
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation	Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Arthritis, Lymphopenia	OMIM:616100
Ghosal Hematodiaphyseal Dysplasia	Refractory anemia, Increased bone mineral density, Leukopenia, Bone marrow hypocellularity, Throm...	OMIM:231095
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome	Thrombocytopenia, Reticulocytopenia, Leukopenia, B lymphocytopenia, Bone marrow hypocellularity, ...	ORPHA:508542
Fibrous Dysplasia Of Bone	Hypercalcemia, Osteomalacia, Bone pain, Rickets, Osteolysis, Large cafe-au-lait macules with irre...	ORPHA:249
Brachydactyly, Type B1	Vertebral fusion, Hypoplastic sacrum, Thoracolumbar scoliosis, Hemivertebrae, Camptodactyly, Join...	OMIM:113000
Systemic Mastocytosis With Associated Hematologic Neoplasm	Normocytic anemia, Acute myeloid leukemia, Neutrophilia, Eosinophilia, Splenomegaly, Leukocytosis...	ORPHA:98849
Vipoma	Normochromic anemia, Hypokalemia, Hypercalcemia	ORPHA:97282
Immunodeficiency, Common Variable, 8, With Autoimmunity	Pancytopenia, Autoimmune hemolytic anemia, Chronic neutropenia, Autoimmune thrombocytopenia, Sple...	OMIM:614700
Infection-Related Hemolytic Uremic Syndrome	Hyponatremia, Hemolytic anemia, Brain abscess, Leukocytosis, Hyperkalemia, Hypocalcemia, Septic a...	ORPHA:544482
Hereditary Methemoglobinemia	Methemoglobinemia	ORPHA:621
Ring Chromosome 21 Syndrome	Multiple cafe-au-lait spots, Thoracic hemivertebrae, Fused thoracic vertebrae, Scoliosis	ORPHA:1445
Hb Bart'S Hydrops Fetalis	Splenomegaly, Abnormal hemoglobin, Anemia	ORPHA:163596
Gorlin Syndrome	Vertebral fusion, Hemivertebrae, Vertebral wedging, Melanocytic nevus, Scoliosis	ORPHA:377
Congenital Lethal Erythroderma	Hypoalbuminemia	ORPHA:1954
Necrotizing Enterocolitis	Hyponatremia, Leukocytosis, Thrombocytopenia, Neutropenia	ORPHA:391673
Metaphyseal Chondrodysplasia, Jansen Type	Osteopenia, Hip contracture, Hypercalcemia, Knee flexion contracture, Hypophosphatemia, Pathologi...	OMIM:156400
Multiple Synostoses Syndrome 2	Vertebral fusion, Tarsal synostosis, Humeroradial synostosis, Finger symphalangism, Proximal symp...	OMIM:610017
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16	Flexion contracture, HbH hemoglobin, Short neck, Microcytic anemia	ORPHA:98791
Dyskeratosis Congenita, Autosomal Dominant 1	Aplastic anemia, Osteoporosis, Reticular hyperpigmentation, Anemia, Leukopenia, Premature graying...	OMIM:127550
Mirage Syndrome	Hyponatremia, Hyperkalemia, Anemia, Leukopenia, Scoliosis, Hypoplastic spleen, Lymphopenia, Throm...	OMIM:617053
Glucagonoma	Normochromic anemia, Hypercalcemia, Acanthocytosis	ORPHA:97280
Sweet Syndrome	Acute myeloid leukemia, Neutrophilia, Elevated circulating C-reactive protein concentration, Leuk...	ORPHA:3243
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome	Sacral dimple, Lumbar hyperlordosis, Limited elbow movement, Craniosynostosis, Increased interver...	ORPHA:508533
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis	Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume	OMIM:300946
Kenny-Caffey Syndrome, Type 2	Transient hypophosphatemia, Increased bone mineral density, Delayed closure of the anterior fonta...	OMIM:127000
Bleeding Disorder, Platelet-Type, 17	Increased RBC distribution width, Macrothrombocytopenia, Absence of alpha granules, Impaired coll...	OMIM:187900
Developmental And Speech Delay Due To Sox5 Deficiency	Vertebral fusion, Thoracic kyphoscoliosis, Lumbar hyperlordosis, Scoliosis, Butterfly vertebrae	ORPHA:313892
Isolated Klippel-Feil Syndrome	Short neck, Abnormal sacrum morphology, Abnormality of the vertebral column, Scoliosis, Cervical ...	ORPHA:2345
Blue Diaper Syndrome	Hyperphosphatemia, Hypercalcemia	ORPHA:94086
Chediak-Higashi Syndrome	Impaired neutrophil bactericidal activity, Hypopigmentation of hair, Thrombocytopenia, Splenomega...	OMIM:214500
Bone Marrow Failure Syndrome 3	Acute myeloid leukemia, Pancytopenia, Congenital hip dislocation, Aplastic anemia, Joint hypermob...	OMIM:617052
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome	Hyponatremia, Severe B lymphocytopenia, Autoimmune thrombocytopenia, Hyperkalemia, Abnormal lymph...	ORPHA:293978
Hennekam Syndrome	Camptodactyly of finger, Craniosynostosis, Splenomegaly, Hypocalcemia, Lymphopenia	ORPHA:2136
Chylomicron Retention Disease	Hypotriglyceridemia, Hypoalbuminemia, Decreased LDL cholesterol concentration, Hypocholesterolemia	OMIM:246700
Autoinflammatory Disease, Systemic, X-Linked	Neutropenia, Osteomyelitis, B lymphocytopenia, Hepatosplenomegaly	OMIM:301081
Somatostatinoma	Hypercalcemia, Hypochromic microcytic anemia	ORPHA:97283
Pearson Syndrome	Reticulocytosis, Pancytopenia, Hyperpigmentation of the skin, Splenomegaly, Hypomagnesemia, Hypop...	ORPHA:699
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A	Vertebral fusion, Hip contracture, Elbow contracture, Multiple pterygia, Short neck, Craniosynost...	OMIM:178110
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)	Conjugated hyperbilirubinemia, Hyperkalemia, Hypoalbuminemia, Increased total bilirubin	OMIM:618528
Keratoconus Posticus Circumscriptus	Limited elbow extension and supination, Abnormal vertebral segmentation and fusion, Short neck	OMIM:244600
Pheochromocytoma--Islet Cell Tumor Syndrome	Axillary freckling, Cafe-au-lait spot, Hypercalcemia	OMIM:171420
Beta-Thalassemia Major	Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, Hyperpigmentat...	ORPHA:231214
Gracile Bone Dysplasia	Asplenia, Hypoplastic spleen, Decreased skull ossification, Hypocalcemia	OMIM:602361
Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin	Persistence of hemoglobin F, Anterior concavity of thoracic vertebrae, Joint hypermobility	OMIM:617101
Ivic Syndrome	Limited interphalangeal movement, Limited elbow movement, Limited wrist movement, Leukocytosis, R...	OMIM:147750
Icf Syndrome	Anemia, Lymphopenia, Abnormality of neutrophils	ORPHA:2268
Nephrotic Syndrome, Type 1	Hypoproteinemia, Hyperlipidemia, Hypoalbuminemia	OMIM:256300
Aarskog-Scott Syndrome	Genu recurvatum, Camptodactyly of finger, Short neck, Joint hyperflexibility, Abnormal vertebral ...	ORPHA:915
Urachal Cyst	Leukocytosis, Abscess, Elevated circulating C-reactive protein concentration	ORPHA:488
Hypocalcemia, Autosomal Dominant 2	Abnormal blood phosphate concentration, Hypocalcemia	OMIM:615361
Congenital Enterocyte Heparan Sulfate Deficiency	Abnormal circulating protein concentration, Abnormal circulating polysaccharide concentration, Hy...	ORPHA:103910
Verheij Syndrome	Joint laxity, Vertebral fusion, Short neck, Hemivertebrae, Hip dislocation, Scoliosis	OMIM:615583
Parathyroid Carcinoma	Hypercalcemia	OMIM:608266
Diamond-Blackfan Anemia 6	Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume, Tracheomalacia	OMIM:612561
Congenital Disorder Of Glycosylation, Type Ij	Flexion contracture, Hypoproteinemia	OMIM:608093
Citrullinemia Type Ii	Decreased HDL cholesterol concentration, Acute hyperammonemia, Hypertriglyceridemia, Hyperlipidem...	ORPHA:247585
Nephrotic Syndrome, Type 6	Hypoalbuminemia	OMIM:614196
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay	Sideroblastic anemia, Splenomegaly, Schistocytosis, Hypochromic microcytic anemia, B lymphocytopenia	OMIM:616084
Posterior Fusion Of Lumbosacral Vertebrae-Blepharoptosis Syndrome	Sacral dimple, Tarsal synostosis, Joint stiffness, Abnormal form of the vertebral bodies, Posteri...	ORPHA:2064
Enterokinase Deficiency	Hypoproteinemia	OMIM:226200
S-Adenosylhomocysteine Hydrolase Deficiency	Elevated circulating creatine kinase concentration, Abnormal circulating homocysteine concentrati...	ORPHA:88618
Diaphanospondylodysostosis	Abnormal vertebral segmentation and fusion, Absent or minimally ossified vertebral bodies, Short ...	ORPHA:66637
Onychotrichodysplasia And Neutropenia	Lymphocytosis, Chronic neutropenia, Neutropenia	OMIM:258360
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1B	Fused thoracic vertebrae, Tarsal synostosis, Short neck, Flexion contracture, Antecubital pterygi...	OMIM:618469
Hyperparathyroidism, Neonatal Self-Limited Primary, With Hypercalciuria	Hypercalcemia	OMIM:239199
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency	Lymphopenia, White hair, Anemia, Reduced bone mineral density	ORPHA:935
Hyperparathyroidism 2 With Jaw Tumors	Hypercalcemia	OMIM:145001
Nephrotic Syndrome, Type 3	Hypoalbuminemia	OMIM:610725
Vitamin D-Dependent Rickets, Type 3	Osteopenia, Genu varum, Hypocalcemia, Hypophosphatemia	OMIM:619073
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome	Kyphosis, Hypercalcemia, Scoliosis	ORPHA:476126
Selective Igm Deficiency	Decreased proportion of CD4-positive T cells, Autoimmune thrombocytopenia, Decreased proportion o...	ORPHA:331235
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive	Decreased circulating copper concentration, Decreased circulating ceruloplasmin concentration, Hy...	OMIM:242150
Thrombocytopenia-Absent Radius Syndrome	Eosinophilia, Leukocytosis, Patellar aplasia, Hip dislocation, Hepatosplenomegaly, Anemia, Fused ...	OMIM:274000
Spondylocostal Dysostosis 5	Vertebral fusion, Low back pain, Short neck, Hemivertebrae, Scoliosis, Butterfly vertebrae	OMIM:122600
Otopalatodigital Syndrome Type 1	Increased bone mineral density, Elbow dislocation, Limitation of joint mobility, Abnormal vertebr...	ORPHA:90650
X-Linked Intellectual Disability-Limb Spasticity-Retinal Dystrophy-Diabetes Insipidus Syndrome	Elevated amniotic fluid alpha-fetoprotein, HbH hemoglobin	ORPHA:423479
Diamond-Blackfan Anemia 3	Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume, Reticulocytopenia	OMIM:610629
Thymic Neuroendocrine Tumor	Osteopenia, Hypercalcemia	ORPHA:97289
Shiga Toxin-Associated Hemolytic Uremic Syndrome	Hyponatremia, Reticulocytosis, Leukocytosis, Schistocytosis, Elevated circulating creatinine conc...	ORPHA:90038
Kniest Dysplasia	Arthropathy, Enlarged joints, Short neck, Joint stiffness, Hypoplasia of the odontoid process, De...	ORPHA:485
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome	Osteopenia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Delayed skeletal maturation...	ORPHA:391487
Mpi-Cdg	Hypoalbuminemia	ORPHA:79319
Familial Mediterranean Fever	Neutrophilia, Elevated circulating C-reactive protein concentration, Splenomegaly, Leukocytosis, ...	OMIM:249100
Very Long Chain Acyl-Coa Dehydrogenase Deficiency	Elevated circulating creatine kinase concentration, Increased circulating free fatty acid level, ...	ORPHA:26793
Nephrotic Syndrome, Type 11	Hypercholesterolemia, Hypoalbuminemia	OMIM:616730
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome	Hyperextensibility of the finger joints, Anemia, Hypocalcemia, Hyperbilirubinemia, Thrombocytopenia	ORPHA:163979
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy	Hypoproteinemia	OMIM:221400
Sepsis In Premature Infants	Elevated circulating C-reactive protein concentration, Splenomegaly, Leukocytosis, Anemia, Neutro...	ORPHA:90051
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome	Osteopenia, Hypertriglyceridemia, Hypercalcemia, Craniosynostosis, Delayed skeletal maturation, S...	ORPHA:369837
Lysinuric Protein Intolerance	Hypolysinemia, Recurrent fractures, Splenomegaly, Increased circulating ferritin concentration, D...	OMIM:222700
Monosomy 13Q34	Osteochondrosis, Hypercalcemia	ORPHA:96168
Spinocerebellar Ataxia With Axonal Neuropathy Type 2	Hypercholesterolemia, Hypoalbuminemia, Elevated circulating creatine kinase concentration, Elevat...	ORPHA:64753
Thymoma	Aplastic anemia, Pure red cell aplasia, Imbalanced hemoglobin synthesis, Rheumatoid arthritis, Le...	ORPHA:99867
Lujo Hemorrhagic Fever	Stiff neck, Elevated circulating C-reactive protein concentration, Leukocytosis, Leukopenia, Lymp...	ORPHA:319213
Sickle Cell Disease	Hemolytic anemia, Splenomegaly, Leukocytosis, Splenic infarction, Increased red cell sickling ten...	OMIM:603903
Lig4 Syndrome	Leukocytosis, Pancytopenia, Acute leukemia	ORPHA:99812
Ataxia-Telangiectasia	Elevated circulating alpha-fetoprotein concentration, Acute lymphoblastic leukemia, T lymphocytop...	OMIM:208900
Gastritis, Familial Giant Hypertrophic	Hypoproteinemia	OMIM:137280
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy	Joint laxity, Conjugated hyperbilirubinemia, Hyperammonemia, Decreased serum zinc, Hypoalbuminemia	OMIM:617093
Acquired Aneurysmal Subarachnoid Hemorrhage	Hypercholesterolemia, Leukocytosis	ORPHA:90065
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome	Accessory spleen, Severe B lymphocytopenia, Delayed cranial suture closure, Craniosynostosis, Ane...	OMIM:620005
Hennekam Lymphangiectasia-Lymphedema Syndrome 1	Delayed skeletal maturation, Spina bifida occulta, Hypoalbuminemia, Scoliosis, Camptodactyly, Cor...	OMIM:235510
Multiple Pterygium Syndrome, X-Linked	Joint dislocation, Vertebral fusion, Abnormal cervical curvature, Multiple pterygia, Flexion cont...	OMIM:312150
Hypocalciuric Hypercalcemia, Familial, Type Iii	Osteomalacia, Hypercalcemia, Bone pain, Hypermagnesemia, Hypophosphatemia, Chondrocalcinosis	OMIM:600740
Acute Generalized Exanthematous Pustulosis	Neutrophilia, Eosinophilia, Leukocytosis, Neutropenia, Hyperpigmentation of the skin	ORPHA:293173
Doors Syndrome	Sagittal craniosynostosis, Hemivertebrae, Lumbar scoliosis, Thrombocytosis, Spina bifida occulta	ORPHA:79500
Alpha-Thalassemia	Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia	OMIM:604131
Beta-Thalassemia	Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia	OMIM:613985
Ataxia-Oculomotor Apraxia 4	Hypercholesterolemia, Hypoalbuminemia, Elevated circulating alpha-fetoprotein concentration	OMIM:616267
Shigellosis	Hyponatremia, Abscess, Leukocytosis, Abnormal blood ion concentration, Arthritis, Microangiopathi...	ORPHA:810
Sotos Syndrome	Joint laxity, Hypopigmentation of the skin, Hip contracture, Sacrococcygeal teratoma, Hypercalcem...	ORPHA:821
Nijmegen Breakage Syndrome	Autoimmune hemolytic anemia, Retinal pigment epithelial mottling, Progressive vitiligo, T lymphoc...	OMIM:251260
Idiopathic Steroid-Resistant Nephrotic Syndrome	Hypercholesterolemia, Abnormal circulating lipid concentration, Hypoalbuminemia, Hypertriglycerid...	ORPHA:567548
Hypophosphatemic Rickets And Hyperparathyroidism	Hypercalcemia, Rickets, Bone pain, Hypophosphatemia, Hypophosphatemic rickets	OMIM:612089
Agammaglobulinemia, X-Linked	T lymphocytopenia, B lymphocytopenia, Neutropenia, Septic arthritis, Anemia	OMIM:300755
Liver Failure, Infantile, Transient	Hypoalbuminemia, Hyperbilirubinemia	OMIM:613070
Spondylocostal Dysostosis 4, Autosomal Recessive	Vertebral fusion, Abnormal odontoid process morphology, Block vertebrae, Short neck, Hemivertebra...	OMIM:613686
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction	Aplasia of the thymus, Short neck, Kyphosis, Hemivertebrae, T lymphocytopenia, Contracture of the...	OMIM:618223
Small Cell Carcinoma Of The Bladder	Hypercalcemia	ORPHA:284400
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome	Vertebral fusion, Elbow dislocation, Kyphosis, Hemivertebrae, Abnormal form of the vertebral bodi...	ORPHA:2916
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome	Hypermelanotic macule, Elevated circulating C-reactive protein concentration, Splenomegaly, Leuko...	ORPHA:32960
Koolen-De Vries Syndrome	Vertebral fusion, Hypopigmentation of hair, Kyphosis, Hip dislocation, Joint hyperflexibility, Ve...	ORPHA:96169
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3	Osteopenia, Hyperphosphatemia, Calvarial osteosclerosis, Hypercalcemia	OMIM:617994
Systemic Capillary Leak Syndrome	Leukocytosis	ORPHA:188
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome	Severe B lymphocytopenia, Contracture of the distal interphalangeal joint of the fingers, Cleft v...	ORPHA:83617
Acquired Methemoglobinemia	Methemoglobinemia	ORPHA:464453
Autosomal Recessive Kenny-Caffey Syndrome	Delayed cranial suture closure, Delayed skeletal maturation, Hypocalcemia, Hypocalcemic tetany, D...	ORPHA:93324
Multiple Pterygium Syndrome, Lethal Type	Joint dislocation, Vertebral fusion, Abnormal cervical curvature, Multiple pterygia, Flexion cont...	OMIM:253290
Congenital Disorder Of Glycosylation, Type Ib	Hypoalbuminemia	OMIM:602579
Autosomal Recessive Malignant Osteopetrosis	Recurrent fractures, Craniosynostosis, Splenomegaly, Bone pain, Reduced bone mineral density, Hyp...	ORPHA:667
Uremic Pruritus	Hypermagnesemia, Renal hypophosphatemia, Hypercalcemia, Increased blood urea nitrogen	ORPHA:94059
Nephrotic Syndrome, Type 22	Hypoproteinemia	OMIM:619155
Sporadic Pheochromocytoma/Secreting Paraganglioma	Hypercalcemia	ORPHA:276621
Glucose-Galactose Malabsorption	Hypernatremia, Hypercalcemia	ORPHA:35710
X-Linked Skeletal Dysplasia-Intellectual Disability Syndrome	Fused cervical vertebrae, Abnormal sacrum morphology, Thoracic hemivertebrae, Scoliosis	ORPHA:1436
Hypocalciuric Hypercalcemia, Familial, Type Ii	Hypermagnesemia, Hypercalcemia, Chondrocalcinosis	OMIM:145981
Vitamin D Hydroxylation-Deficient Rickets, Type 1B	Enlargement of the ankles, Recurrent fractures, Delayed epiphyseal ossification, Enlargement of t...	OMIM:600081
Klippel-Feil Syndrome 2, Autosomal Recessive	Cervical C2/C3 vertebral fusion, Fused cervical vertebrae, Scoliosis, Short neck	OMIM:214300
Galloway-Mowat Syndrome 1	Joint contracture of the hand, Hypopigmentation of the skin, Hypoalbuminemia, Camptodactyly	OMIM:251300
Hypocalcemic Vitamin D-Resistant Rickets	Joint dislocation, Osteomalacia, Recurrent fractures, Bone pain, Osteolysis, Abnormal form of the...	ORPHA:93160
Nephrotic Syndrome, Type 8	Hypoalbuminemia	OMIM:615244
Agammaglobulinemia 1, Autosomal Recessive	B lymphocytopenia, Rectal abscess, Neutropenia	OMIM:601495
Tick-Borne Encephalitis	Back pain, Stiff neck, Elevated circulating C-reactive protein concentration, Leukocytosis, Leuko...	ORPHA:297
Klippel-Feil Syndrome 3, Autosomal Dominant	Thoracic scoliosis, Cervical C3/C4 vertebral fusion, Cervical C5/C6 vertebrae fusion	OMIM:613702
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities	Hyponatremia, Calcinosis, Osteopenia, Congenital hip dislocation, Splenomegaly, Hypokalemia, Hypo...	OMIM:617913
Cardioneuromyopathy With Hyaline Masses And Nemaline Rods	Fusion of midcervical facet joints, Widening of cervical spinal canal, Cervical vertebral bodies ...	OMIM:606842
Mitochondrial Complex Iv Deficiency, Nuclear Type 12	Hypoalbuminemia, Elevated circulating creatine kinase concentration, Scoliosis	OMIM:619055
Genetic Steroid-Resistant Nephrotic Syndrome	Hypoalbuminemia	ORPHA:656
Congenital Analbuminemia	Hyperlipidemia, Increased alpha-globulin, Hypoalbuminemia, Hypercholesterolemia, Hypoproteinemia	ORPHA:86816
Mental Retardation, Skeletal Dysplasia, And Abducens Palsy	Fused cervical vertebrae, Prominent metopic ridge, Thoracic hemivertebrae, Scoliosis	OMIM:309620
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 2	Knee pain, Hypoalbuminemia	OMIM:614441
Drug Reaction With Eosinophilia And Systemic Symptoms	Eosinophilia, Lymphocytosis	ORPHA:139402
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia	Septic arthritis, Delayed skeletal maturation, Absent circulating B cells	OMIM:307200
Koolen-De Vries Syndrome	Vertebral fusion, Prominent metopic ridge, Sacral dimple, Kyphosis, Hip dislocation, Scoliosis, S...	OMIM:610443
Vitamin D Hydroxylation-Deficient Rickets, Type 1A	Enlargement of the ankles, Recurrent fractures, Delayed epiphyseal ossification, Enlargement of t...	OMIM:264700
Pyomyositis	Recurrent cutaneous abscess formation, Leukocytosis	ORPHA:764
Fanconi Anemia, Complementation Group A	Pancytopenia, Reticulocytopenia, Anemia, Abnormality of skin pigmentation, Neutropenia, Leukemia,...	OMIM:227650
2P21 Microdeletion Syndrome	Hypocalcemia	ORPHA:163693
Primary Biliary Cholangitis	Conjugated hyperbilirubinemia, Osteoporosis, Hypoalbuminemia, Abnormal circulating lipid concentr...	ORPHA:186
Galloway-Mowat Syndrome 3	Hypoalbuminemia, Hip dislocation, Camptodactyly	OMIM:617729
Lateral Meningocele Syndrome	Vertebral fusion, Short neck, Kyphosis, Sclerosis of skull base, Scoliosis, Wormian bones, Biconc...	OMIM:130720
Autosomal Dominant Kenny-Caffey Syndrome	Delayed cranial suture closure, Delayed skeletal maturation, Anemia, Hyperphosphatemia, Hypocalce...	ORPHA:93325
Exercise-Induced Malignant Hyperthermia	Elevated circulating creatine kinase concentration, Hyperkalemia, Hyperphosphatemia, Hypocalcemia...	ORPHA:466650
Klippel-Feil Syndrome 4, Autosomal Recessive, With Nemaline Myopathy And Facial Dysmorphism	Thoracolumbar scoliosis, Short neck, Flexion contracture, Cervical C2/C3 vertebral fusion, Acetab...	OMIM:616549
Ring Chromosome 10 Syndrome	Hypocalcemia, Short neck	ORPHA:1438
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin	Persistence of hemoglobin F	OMIM:619769
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies	Leukocytosis, Flexion contracture, Genu valgum, Azotemia, Generalized hypopigmentation	OMIM:619321
Tropical Endomyocardial Fibrosis	Splenomegaly, Hypoalbuminemia, Eosinophilia	ORPHA:75565
Spondylocarpotarsal Synostosis Syndrome	Abnormality of retinal pigmentation, Vertebral fusion, Block vertebrae, Tarsal synostosis, Hyperl...	OMIM:272460
Xfe Progeroid Syndrome	Hypoalbuminemia, Scoliosis	OMIM:610965
Hyper-Igd Syndrome	Neutrophilia, Splenomegaly, Leukocytosis, Hepatosplenomegaly, Arthritis	OMIM:260920
Frontometaphyseal Dysplasia 1	Interphalangeal joint contracture of finger, Limited elbow movement, Ankle flexion contracture, C...	OMIM:305620
Smith-Lemli-Opitz Syndrome	Sacral dimple, Splenomegaly, Hip dislocation, Epiphyseal stippling, Hypoalbuminemia, Elevated cir...	OMIM:270400
Bartter Syndrome, Type 1, Antenatal	Osteopenia, Hyperchloriduria, Increased serum prostaglandin E2, Hypercalcemia, Hypochloremia, Hyp...	OMIM:601678
Methemoglobinemia And Ambiguous Genitalia	Methemoglobinemia	OMIM:250790
Caroli Disease	Liver abscess, Conjugated hyperbilirubinemia, Splenomegaly, Leukocytosis, Abnormal circulating al...	ORPHA:53035
Hereditary Pheochromocytoma-Paraganglioma	Hypercalcemia	ORPHA:29072
Autoimmune Hypoparathyroidism	Increased bone mineral density, Hyperphosphatemia, Hypocalcemia, Hypocalcemic tetany, Hypocalcemi...	ORPHA:36913
Caroli Syndrome	Liver abscess, Hypersplenism, Conjugated hyperbilirubinemia, Leukocytosis, Leukopenia, Hyperbilir...	ORPHA:480520
Klippel-Feil Syndrome 1, Autosomal Dominant	Cervical C2/C3 vertebral fusion, Abnormal vertebral segmentation and fusion, Scoliosis, Short neck	OMIM:118100
Diarrhea 10, Protein-Losing Enteropathy Type	Hyponatremia, Hypertriglyceridemia, Hypoalbuminemia, Hypocalcemia, Hypomagnesemia	OMIM:618183
Simpson-Golabi-Behmel Syndrome	Vertebral fusion, Congenital hip dislocation, Camptodactyly of finger, Accelerated skeletal matur...	ORPHA:373
Combined Oxidative Phosphorylation Deficiency 37	Hyperalaninemia, Hypoalbuminemia	OMIM:618329
Kikuchi-Fujimoto Disease	Elevated circulating C-reactive protein concentration, Splenomegaly, Anemia, Leukopenia, Lymphocy...	ORPHA:50918
Williams Syndrome	Osteopenia, Elevated circulating creatine kinase concentration, Abnormal form of the vertebral bo...	ORPHA:904
Wildervanck Syndrome	Fused cervical vertebrae	OMIM:314600
Pheochromocytoma	Cafe-au-lait spot, Hypercalcemia	OMIM:171300
Hypoparathyroidism, Familial Isolated, 2	Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures	OMIM:618883
Hypocalcemic Vitamin D-Dependent Rickets	Enlargement of the ankles, Wide cranial sutures, Osteomalacia, Delayed epiphyseal ossification, E...	ORPHA:289157
Hypocalciuric Hypercalcemia, Familial, Type I	Hypermagnesemia, Hypercalcemia	OMIM:145980
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis	Sclerotic vertebral body, Kyphosis, Increased skull ossification, Craniofacial osteosclerosis, Di...	OMIM:618476
Hypocalcemia, Autosomal Dominant 1	Hypokalemia, Hyperphosphatemia, Increased circulating renin level, Hypocalcemia, Hypomagnesemia	OMIM:601198
Pseudohypoparathyroidism, Type Ic	Short neck, Osteoporosis, Hyperphosphatemia, Hypocalcemia, Hypocalcemic tetany	OMIM:612462
Larsen Syndrome	Joint laxity, Vertebral fusion, Cervical kyphosis, Elbow dislocation, Dislocated wrist, Accessory...	OMIM:150250
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked	Kyphoscoliosis, Kyphosis, Reduced alpha/beta synthesis ratio, Hemivertebrae, Hypochromic microcyt...	OMIM:301040
Dyskeratosis Congenita, Autosomal Recessive 3	Abnormality of skin pigmentation, Pancytopenia, Bone marrow hypocellularity	OMIM:613988
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome	Flexion contracture, Abnormal hemoglobin, Anemia, Joint stiffness	ORPHA:847
Wiskott-Aldrich Syndrome	Hemolytic anemia, Abnormal eosinophil morphology, Microcytic anemia, Thrombocytopenia, Chronic le...	ORPHA:906
Pseudopseudohypoparathyroidism	Ectopic ossification, Hyperphosphatemia, Hypocalcemia	ORPHA:79445
Incontinentia Pigmenti	Eosinophilia, Kyphoscoliosis, Leukocytosis, Hemivertebrae, Abnormality of skin pigmentation	OMIM:308300
Lamb-Shaffer Syndrome	Fused cervical vertebrae, Thoracic kyphosis, Scoliosis	ORPHA:530983
Mosaic Trisomy 20	Vertebral fusion, Kyphosis, Spinal canal stenosis, Depigmentation/hyperpigmentation of skin, Fuse...	ORPHA:1724
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1	Hyperextensibility of the finger joints, Vertebral fusion, Sacral dimple, Craniosynostosis, Short...	OMIM:213980
Juvenile Polyposis Syndrome	Brain abscess, Hypoproteinemia, Anemia	ORPHA:2929
Hypotonia-Cystinuria Syndrome	Hypocalcemia	OMIM:606407
Ehlers-Danlos Syndrome, Classic-Like, 2	Osteopenia, Thoracic scoliosis, Short neck, Osteoarthritis, Generalized joint laxity, Osteoporosi...	OMIM:618000
Familial Congenital Mirror Movements	Fused cervical vertebrae	ORPHA:238722
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige	Hypernatremia, Hypoalbuminemia	OMIM:615508
Renal Tubular Acidosis, Distal, 1	Osteomalacia, Elevated circulating creatinine concentration, Hypokalemia, Hypocalcemia, Pathologi...	OMIM:179800
Multiple Pterygium Syndrome, Escobar Variant	Multiple joint contractures, Short neck, Flexion contracture, Knee flexion contracture, Intercrur...	OMIM:265000
Hyperparathyroidism-Jaw Tumor Syndrome	Hypercalcemia, Bone pain, Osteoporosis, Hypophosphatemia, Chondrocalcinosis	ORPHA:99880
Intellectual Developmental Disorder With Dysmorphic Facies And Ptosis	Cervical C2/C3 vertebral fusion, Joint hypermobility, Camptodactyly	OMIM:617333
Parathyroid Carcinoma	Hypercalcemia, Bone pain, Osteoporosis, Hypophosphatemia, Chondrocalcinosis	ORPHA:143
Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy	Hyponatremia, Hypokalemia, Hypocalcemia, Hypomagnesemia	OMIM:620152
Multiple Endocrine Neoplasia, Type I	Cafe-au-lait spot, Hypercalcemia	OMIM:131100
Yellow Fever	Low back pain, Neutrophilia, Elevated circulating creatine kinase concentration, Leukocytosis, El...	ORPHA:99829
Alkaptonuria	Arthropathy, Vertebral fusion, Low back pain, Kyphosis, Limited shoulder movement, Arthritis, Lim...	OMIM:203500
Familial Hypocalciuric Hypercalcemia	Renal hypophosphatemia, Osteomalacia, Hypercalcemia, Hypermagnesemia, Chondrocalcinosis, Hypocalc...	ORPHA:405
Hypoparathyroidism-Retardation-Dysmorphism Syndrome	Patchy osteosclerosis, Delayed skeletal maturation, Hyperphosphatemia, Hypocalcemia, Hypocalcemic...	OMIM:241410
Caudal Regression Syndrome	Joint stiffness, Aplasia/Hypoplasia of the sacrum, Hypoplastic vertebral bodies, Scoliosis, Abnor...	ORPHA:3027
Chops Syndrome	Tracheomalacia, Splenomegaly, Cervical C2/C3 vertebral fusion	OMIM:616368
Gitelman Syndrome	Hypermagnesemia, Gout, Iron deficiency anemia, Hypokalemia, Hypocalcemia, Hypomagnesemia, Chondro...	ORPHA:358
Duane Retraction Syndrome	Central heterochromia, Patchy hypopigmentation of hair, Short neck, Hypopigmented skin patches, A...	ORPHA:233
Multiple Endocrine Neoplasia Type 2	Joint laxity, Hypercalcemia, Kyphoscoliosis, Hyperlordosis	ORPHA:653
22Q11.2 Deletion Syndrome	Abnormality of thrombocytes, Short neck, Splenomegaly, Hypopigmented skin patches, Multiple sutur...	ORPHA:567
Wolf-Hirschhorn Syndrome	Accessory spleen, Vertebral fusion, Sacral dimple, Kyphosis, Delayed skeletal maturation, Hip dis...	OMIM:194190
Robinow Syndrome, Autosomal Recessive 1	Joint laxity, Vertebral fusion, Hypoplastic sacrum, Thoracolumbar scoliosis, Short neck, Delayed ...	OMIM:268310
Pseudohypoparathyroidism, Type Ii	Hyperphosphatemia, Hypocalcemia	OMIM:203330
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland	Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures, Hypomagnesemia	ORPHA:2239
Wildervanck Syndrome	Fused cervical vertebrae, Short neck	ORPHA:3456
Autosomal Recessive Hypophosphatemic Rickets	Increased bone mineral density, Renal hypophosphatemia, Osteomalacia, Rickets of the lower limbs,...	ORPHA:289176
Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia	Elbow dislocation, Anterior vertebral fusion, Radioulnar synostosis, Shoulder dislocation, Genu v...	OMIM:171480
Oncogenic Osteomalacia	Bone pain, Increased susceptibility to fractures, Hypocalcemia, Hypophosphatemia, Pathologic frac...	ORPHA:352540
Hypoparathyroidism, Familial Isolated, 1	Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures	OMIM:146200
Intellectual Disability-Facial Dysmorphism-Hand Anomalies Syndrome	Cervical C2/C3 vertebral fusion	ORPHA:370010
Hypomagnesemia 1, Intestinal	Hypocalcemia, Hypomagnesemia	OMIM:602014
Pseudohypoparathyroidism Type 1B	Calcinosis, Increased bone mineral density, Short neck, Diaphyseal sclerosis, Hyperphosphatemia, ...	ORPHA:94089
Pseudohypoparathyroidism, Type Ib	Hyperphosphatemia, Hypocalcemia	OMIM:603233
Intellectual Developmental Disorder, Autosomal Dominant 52	Cervical C2/C3 vertebral fusion, Lumbar hyperlordosis, Lumbar scoliosis	OMIM:617796
Hemorrhagic Fever-Renal Syndrome	Back pain, Leukocytosis, Elevated circulating creatinine concentration, Hyperkalemia, Anemia, Hyp...	ORPHA:340
Fibrodysplasia Ossificans Progressiva	Small cervical vertebral bodies, Progressive cervical vertebral spine fusion, Ectopic ossificatio...	OMIM:135100
Pseudohypoparathyroidism Type 2	Calcinosis, Hyperphosphatemia, Hypocalcemia, Hypocalcemic tetany, Hypocalcemic seizures	ORPHA:94090
Cushing Disease	Leukocytosis, Osteoporosis, Avascular necrosis, Decreased eosinophil count, Vertebral compression...	ORPHA:96253
Multiple Endocrine Neoplasia Type 1	Hypercalcemia, Osteolysis, Increased susceptibility to fractures, Large cafe-au-lait macules with...	ORPHA:652
Genetic Recurrent Myoglobinuria	Highly elevated creatine kinase, Hyperphosphatemia, Hyperkalemia, Hypocalcemia	ORPHA:99845
Pancreatic insufficiency, combined exocrine	Hypoproteinemia	OMIM:260450
Congenital Disorder Of Glycosylation, Type Ig	Hypocalcemia, Butterfly vertebrae	OMIM:607143
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)	Hypertyrosinemia, Conjugated hyperbilirubinemia, Hypoalbuminemia, Hypermethioninemia, Hyperbiliru...	OMIM:617156
Otopalatodigital Syndrome Type 2	Increased bone mineral density, Tarsal synostosis, Camptodactyly of finger, Elbow dislocation, Sc...	ORPHA:90652
Sanjad-Sakati Syndrome	Patchy osteosclerosis, Delayed skeletal maturation, Spinal canal stenosis, Hyperphosphatemia, Hyp...	ORPHA:2323
Heterotaxy, Visceral, 1, X-Linked	Absence of the sacrum, Congenital hip dislocation, Block vertebrae, Asplenia, Polysplenia	OMIM:306955
Basal Cell Nevus Syndrome 1	Vertebral fusion, Kyphoscoliosis, Irregular ossification of hand bones, Hemivertebrae, Vertebral ...	OMIM:109400
Digeorge Syndrome	Pilonidal sinus, Splenomegaly, Anemia, Hypoplasia of the thymus, Hypocalcemia, Scoliosis, Patella...	OMIM:188400
Biliary, Renal, Neurologic, And Skeletal Syndrome	Osteopenia, Conjugated hyperbilirubinemia, Splenomegaly, Increased circulating ferritin concentra...	OMIM:619534
Shashi-Pena Syndrome	Accelerated skeletal maturation, Kyphosis, Osteoporosis, Scoliosis, Cervical C2/C3 vertebral fusion	OMIM:617190
Timothy Syndrome	Hypocalcemia	OMIM:601005
Charge Syndrome	Radial head subluxation, Hemivertebrae, Hypocalcemia, Scoliosis, Lymphopenia	OMIM:214800
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance	Hyperlipidemia, Hypoalbuminemia	ORPHA:567546
Chromosome 8Q22.1 Duplication Syndrome	Enlarged interphalangeal joints, Genu recurvatum, Interphalangeal joint contracture of finger, Jo...	OMIM:151200
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects	Fused cervical vertebrae, Cafe-au-lait spot, Spina bifida occulta, Butterfly vertebrae	OMIM:619227
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies	Vertebral fusion, Block vertebrae, Short neck, Hemivertebrae, Scoliosis, Supernumerary vertebrae	OMIM:271520
Stapes Ankylosis With Broad Thumbs And Toes	Fused cervical vertebrae, Proximal/middle symphalangism of 5th finger	OMIM:184460
Ppoma	Hypercalcemia	ORPHA:97278
Pseudohypoparathyroidism Type 1A	Calcinosis, Increased bone mineral density, Short neck, Reduced bone mineral density, Hyperphosph...	ORPHA:79443
Williams-Beuren Syndrome	Osteopenia, Joint laxity, Hypercalcemia, Kyphoscoliosis, Flexion contracture, Blue irides, Osteop...	OMIM:194050
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies	Few cafe-au-lait spots, Hemolytic anemia, Hyperextensibility of the finger joints, Hip contractur...	OMIM:619503
Kbg Syndrome	Vertebral fusion, Short neck, Delayed skeletal maturation, Vertebral arch anomaly, Thoracic kyphosis	OMIM:148050
Grfoma	Hypercalcemia	ORPHA:97261
Zollinger-Ellison Syndrome	Hypercalcemia	ORPHA:913
Pseudohypoparathyroidism Type 1C	Calcinosis, Increased bone mineral density, Short neck, Hyperphosphatemia, Hypocalcemia, Hypocalc...	ORPHA:79444
Multiple Endocrine Neoplasia Type 4	Hypercalcemia	ORPHA:276152
Frontometaphyseal Dysplasia	Limitation of movement at ankles, Interphalangeal joint contracture of finger, Limited elbow move...	ORPHA:1826
Pmm2-Cdg	Osteopenia, Joint laxity, Multiple joint contractures, Kyphoscoliosis, Reduced thyroxin-binding g...	ORPHA:79318
Myhre Syndrome	Vertebral fusion, Short neck, Joint stiffness, Limitation of joint mobility, Enlarged vertebral p...	OMIM:139210
Autosomal Dominant Hypocalcemia	Reduced bone mineral density, Hyperphosphatemia, Hypocalcemia, Hypomagnesemia, Irregular hyperpig...	ORPHA:428
Familial Isolated Hypoparathyroidism	Hypocalcemia	ORPHA:2238
Sifrim-Hitz-Weiss Syndrome	Wormian bones, Fused cervical vertebrae, Flat acetabular roof	OMIM:617159
Aicardi Syndrome	Abnormality of retinal pigmentation, Block vertebrae, Abnormality of skin pigmentation, Scoliosis...	ORPHA:50
Microphthalmia, Syndromic 3	Vertebral fusion, Hemivertebrae, Butterfly vertebrae, Vertebral hypoplasia	OMIM:206900
Mayer-Rokitansky-Küster-Hauser Syndrome	Vertebral fusion, Abnormal sacrum morphology, Abnormal form of the vertebral bodies, Vertebral se...	ORPHA:3109
Kawasaki Disease	Arthritis, Leukocytosis	ORPHA:2331
Cholera	Hyponatremia, Hypocalcemia, Hypokalemia, Abnormal blood ion concentration	ORPHA:173
Dahlberg-Borer-Newcomer Syndrome	Hypocalcemia	ORPHA:1563
Mitochondrial Trifunctional Protein Deficiency	Pigmentary retinopathy, Hypocalcemia	ORPHA:746
Atelosteogenesis, Type I	Short neck, Thoracic platyspondyly, Elbow dislocation, Knee dislocation, Fused cervical vertebrae...	OMIM:108720
Acro-Renal-Ocular Syndrome	Vertebral fusion, Vertebral segmentation defect	ORPHA:959
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome	Thoracic scoliosis, Cervical hemivertebrae, Short neck, Generalized joint laxity, Hip dislocation...	ORPHA:508498
Juvenile Nephropathic Cystinosis	Hyponatremia, Hypouricemia, Delayed skeletal maturation, Elevated circulating creatinine concentr...	ORPHA:411634
Apert Syndrome	Sagittal craniosynostosis, Limited elbow movement, Craniosynostosis, Delayed epiphyseal ossificat...	OMIM:101200
Faciodigitogenital Syndrome, Autosomal Recessive	Vertebral fusion, Hyperextensible hand joints, Camptodactyly	OMIM:227330
Pseudohypoparathyroidism, Type Ia	Short neck, Osteoporosis, Hyperphosphatemia, Subcutaneous ossification, Hypocalcemic tetany	OMIM:103580
Duane-Radial Ray Syndrome	Fused cervical vertebrae, Shoulder dislocation, Spina bifida occulta, Scoliosis	OMIM:607323
Arnold-Chiari Malformation Type I	Stiff neck, Fused cervical vertebrae, Scoliosis, Cervical C2/C3 vertebral fusion, Anteriorly plac...	ORPHA:268882
Aicardi Syndrome	Block vertebrae, Hemivertebrae, Butterfly vertebrae, Scoliosis	OMIM:304050
Double Outlet Right Ventricle	Hypocalcemia	ORPHA:3426
Pierson Syndrome	Hypoproteinemia	OMIM:609049
Robinow Syndrome	Fused thoracic vertebrae, Kyphoscoliosis, Hemivertebrae, Scoliosis	ORPHA:97360
Apert Syndrome	Vertebral segmentation defect, Cervical C5/C6 vertebrae fusion	ORPHA:87
Frontometaphyseal Dysplasia 2	Hip contracture, Congenital hip dislocation, Elbow contracture, Fused cervical vertebrae, Scolios...	OMIM:617137
Ethylene Glycol Poisoning	Hyperkalemia, Hypocalcemia	ORPHA:31826
Thakker-Donnai Syndrome	Cervical C2/C3 vertebral fusion, Hemivertebrae, Short neck	ORPHA:1780
Johanson-Blizzard Syndrome	Joint laxity, Fair hair, Increased VLDL cholesterol concentration, Conjugated hyperbilirubinemia,...	OMIM:243800
Cranioectodermal Dysplasia 1	Joint laxity, Osteoporosis, Hypocalcemia, Sagittal craniosynostosis	OMIM:218330
Cardiospondylocarpofacial Syndrome	Joint laxity, Tarsal synostosis, Delayed skeletal maturation, Fused cervical vertebrae, Fusion of...	OMIM:157800
Velocardiofacial Syndrome	Hypocalcemia	OMIM:192430
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome	Hypoalbuminemia	OMIM:614748
Igg4-Related Thyroid Disease	Hypocalcemia	ORPHA:64744
Craniofacioskeletal Syndrome	Hypocalcemia	OMIM:300712
Chromosome 16P13.3 Duplication Syndrome	Sacral dimple, Short neck, Hip dislocation, Cervical C5/C6 vertebrae fusion, Camptodactyly, Trach...	OMIM:613458
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome	Hypocalcemic tetany, Hypocalcemia, Hypomagnesemia	ORPHA:73224
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome	Wormian bones, Tracheomalacia, Cervical C2/C3 vertebral fusion, Abnormal vertebral morphology, Hi...	ORPHA:444077
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities	Few cafe-au-lait spots, Hypocalcemia, Joint laxity, Short neck	OMIM:620330
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome	Hypocalcemia, Hypocalcemic seizures	ORPHA:2237
Generalized Arterial Calcification Of Infancy	Abnormality of the knee, Osteomalacia, Abnormal calcification of the carpal bones, Fused cervical...	ORPHA:51608
Elsahy-Waters Syndrome	Cervical C2/C3 vertebral fusion	OMIM:211380
Craniofacial Microsomia 1	Block vertebrae, Hemivertebrae, Genu valgum, Scoliosis, Vertebral hypoplasia	OMIM:164210

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

Phenotype	Allele	Zygosity	Life Stage
Pancreas - inflammation	Arpc1b^{tm1a(EUCOMM)Wtsi}	HOM	Early adult
Kidney - MPATH diagnostic term glomerulonephritis	Arpc1b^{tm1a(EUCOMM)Wtsi}	HOM	Early adult
Kidney - process of degenerative change	Arpc1b^{tm1a(EUCOMM)Wtsi}	HOM	Early adult
Testes - atrophy	Arpc1b^{tm1a(EUCOMM)Wtsi}	HOM	Early adult
Pancreas - MPATH diagnostic term vasculitis	Arpc1b^{tm1a(EUCOMM)Wtsi}	HOM	Early adult

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Arpc1b.

There are 9 publications which use IMPC produced mice or data.

Title	Journal	IMPC Allele	PubMed ID
A Genome-Wide Screen in Mice To Identify Cell-Extrinsic Regulators of Pulmonary Metastatic Colonisation.	G3 (Bethesda, Md.) (June 2020)	Arpc1b^{tm1a(EUCOMM)Wtsi}	PMC7263671
High-throughput phenotyping reveals expansive genetic and structural underpinnings of immune variation.	Nature immunology (December 2019)	Arpc1b^{tm1a(EUCOMM)Wtsi}	PMC7338221
Large-scale neuroanatomical study uncovers 198 gene associations in mouse brain morphogenesis.	Nature communications (August 2019)	Arpc1b^{tm1a(EUCOMM)Wtsi} Arpc1b^{tm1a(EUCOMM)Wtsi}	PMC6671969
Mouse screen reveals multiple new genes underlying mouse and human hearing loss.	PLoS biology (April 2019)	Arpc1b^{tm1a(EUCOMM)Wtsi}	PMC6459510
Disruption of Thrombocyte and T Lymphocyte Development by a Mutation in ARPC1B.	Journal of immunology (Baltimore, Md. : 1950) (November 2017)	Arpc1b^{tm1a(EUCOMM)Wtsi}	PMC5726601
WD40-repeat 47, a microtubule-associated protein, is essential for brain development and autophagy.	Proceedings of the National Academy of Sciences of the United States of America (October 2017)	Arpc1b^{tm1a(EUCOMM)Wtsi}	PMC5676932
Genome wide in vivo mouse screen data from studies to assess host regulation of metastatic colonisation.	Scientific data (September 2017)	Arpc1b^{tm1a(EUCOMM)Wtsi}	PMC5827107
Combined immunodeficiency with severe inflammation and allergy caused by ARPC1B deficiency.	The Journal of allergy and clinical immunology (December 2016)	Arpc1b^{tm1a(EUCOMM)Wtsi}	27965109
Identification of genes important for cutaneous function revealed by a large scale reverse genetic screen in the mouse.	PLoS genetics (October 2014)	Arpc1b^{tm1a(EUCOMM)Wtsi}	PMC4207618

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All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele	Allele Type	Produced
Arpc1b^{tm1a(EUCOMM)Wtsi}	KO first allele (reporter-tagged insertion with conditional potential)	Mice, Targeting vectors, ES Cells
Arpc1b^{tm1e(EUCOMM)Wtsi}	Targeted, non-conditional allele	ES Cells

Sequence

Guides

Sequence	Guide sequence	pam	chr	start	stop	strand	Genome build	gRNA Concentration	Truncated Guide	Reversed	Sanger service	Guide format	Guide source

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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Gene: Arpc1b MGI:1343142

Gene Summary

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Phenotypes

lacZ Expression

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Mesenteric Lymph Node Immunophenotyping

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Spleen Immunophenotyping

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X-ray

X-ray

Anti-nuclear antibody assay

Histopathology

Eye Morphology

Eye Morphology

Ear epidermis immunophenotyping

Legacy Phenotype Associated Images

Human diseases caused by Arpc1b mutations

Histopathology

IMPC related publications

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