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Gene: Tmem127 MGI:1916720

Gene Summary

Name:

transmembrane protein 127

Synonyms:

2310003P10Rik

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
decreased B cell number	Tmem127^{tm1(KOMP)Wtsi}	HOM	Early adult	0.00
increased CD8-positive, alpha-beta T cell number	Tmem127^{tm1(KOMP)Wtsi}	HOM	Early adult	0.00
increased circulating alkaline phosphatase level	Tmem127^{tm1(KOMP)Wtsi}	HOM	Early adult	2.73×10^-13
increased memory-marker NK cell number	Tmem127^{tm1(KOMP)Wtsi}	HOM	Early adult	0.00
decreased KLRG1-positive T-helper cell number	Tmem127^{tm1(KOMP)Wtsi}	HOM	Early adult	0.00
thrombocytopenia	Tmem127^{tm1(KOMP)Wtsi}	HOM	Early adult	2.28×10^-07
increased KLRG1-positive NK cell number	Tmem127^{tm1(KOMP)Wtsi}	HOM	Early adult	0.00
decreased memory-marker NK cell number	Tmem127^{tm1(KOMP)Wtsi}	HOM	Early adult	0.00
tremors	Tmem127^{tm1(KOMP)Wtsi}	HOM	Early adult	2.61×10^-06
increased bone mineral content	Tmem127^{tm1(KOMP)Wtsi}	HOM	Early adult	2.59×10^-05
increased alpha-beta T cell number	Tmem127^{tm1(KOMP)Wtsi}	HOM	Early adult	0.00
decreased KLRG1-positive NK cell number	Tmem127^{tm1(KOMP)Wtsi}	HOM	Early adult	0.00
obsolete increased CD8-positive, alpha beta T cell number	Tmem127^{tm1(KOMP)Wtsi}	HOM	Early adult	0.00
decreased plasmacytoid dendritic cell number	Tmem127^{tm1(KOMP)Wtsi}	HOM	Early adult	0.00
decreased neutrophil cell number	Tmem127^{tm1(KOMP)Wtsi}	HOM	Early adult	0.00
increased circulating creatinine level	Tmem127^{tm1(KOMP)Wtsi}	HOM	Early adult	2.28×10^-05
decreased monocyte cell number	Tmem127^{tm1(KOMP)Wtsi}	HOM	Early adult	0.00
decreased effector memory CD8-positive, alpha-beta T cell number	Tmem127^{tm1(KOMP)Wtsi}	HOM	Early adult	0.00
increased CD4-positive, alpha-beta T cell number	Tmem127^{tm1(KOMP)Wtsi}	HOM	Early adult	0.00
abnormal nail morphology	Tmem127^{tm1(KOMP)Wtsi}	HOM	Early adult	4.12×10^-05
decreased Ly6C high monocyte number	Tmem127^{tm1(KOMP)Wtsi}	HOM	Early adult	0.00
increased T cell number	Tmem127^{tm1(KOMP)Wtsi}	HOM	Early adult	0.00
increased circulating bilirubin level	Tmem127^{tm1(KOMP)Wtsi}	HOM	Early adult	5.48×10^-05
decreased CD4-positive, alpha-beta T cell number	Tmem127^{tm1(KOMP)Wtsi}	HOM	Early adult	0.00
decreased B-2 B cell number	Tmem127^{tm1(KOMP)Wtsi}	HOM	Early adult	0.00
decreased NK cell number	Tmem127^{tm1(KOMP)Wtsi}	HOM	Early adult	0.00
increased CD8-positive, naive alpha-beta T cell number	Tmem127^{tm1(KOMP)Wtsi}	HOM	Early adult	0.00
increased circulating amylase level	Tmem127^{tm1(KOMP)Wtsi}	HOM	Early adult	6.30×10^-10
increased Ly6C low monocyte number	Tmem127^{tm1(KOMP)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 Whole Body Lateral Orientation

14 Images

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Spleen Immunophenotyping

Images associated with FACS analysis

80 Images

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Mesenteric Lymph Node Immunophenotyping

Images associated with FACS analysis

49 Images

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Anti-nuclear antibody assay

Images

6 Images

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X-ray

XRay Images Whole Body Dorso Ventral

14 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

16 Images

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X-ray

XRay Images Skull Lateral Orientation

14 Images

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DSS Histology

Images

8 Images

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X-ray

XRay Images Forepaw

14 Images

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Eye Morphology

Images Slit Lamp

1 Images

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Ear epidermis immunophenotyping

Images

12 Images

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Legacy Phenotype Associated Images

Tmem127^{tm1(KOMP)Wtsi}
HOM, Female, WTSI

View all 72 images

Tmem127^{tm1(KOMP)Wtsi}
short tail, tail, HOM, Male, WTSI

Tmem127^{tm1(KOMP)Wtsi}
polydactylous syndactyly, HOM, Female, WTSI

Tmem127^{tm1(KOMP)Wtsi}
polydactylous syndactyly, hindlimb, HOM, Female, WTSI

Tmem127^{tm1(KOMP)Wtsi}
abnormal cornea morphology, HOM, Female, WTSI

Human diseases caused by Tmem127 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 Tmem127 (2 diseases)
Human diseases predicted to be associated with Tmem127 (906 diseases)

The table below shows human diseases associated to Tmem127 by orthology or direct annotation.

Disease	Similarity of phenotypes	Matching phenotypes	Source
Hereditary Pheochromocytoma-Paraganglioma		Tremor, Vocal cord paralysis, Hypercalcemia	ORPHA:29072
Pheochromocytoma		Hypercalcemia	OMIM:171300

The table below shows human diseases predicted to be associated to Tmem127 by phenotypic similarity.

Disease	Matching phenotypes	Source
Immunodeficiency 21	Aplastic anemia, B lymphocytopenia, Neutropenia, Monocytopenia, Myeloid leukemia, Lymphopenia, Re...	OMIM:614172
Neutropenia, Severe Congenital, X-Linked	Monocytopenia, Decreased CD4:CD8 ratio, Neutropenia	OMIM:300299
Immunodeficiency 11A	Monocytopenia, Decreased proportion of CD4+CD25+ regulatory T cells	OMIM:615206
Immunodeficiency 15B	Monocytosis, Reduced natural killer cell count	OMIM:615592
Immunodeficiency 97 With Autoinflammation	Autoimmune hemolytic anemia, Hypertriglyceridemia, Decreased proportion of CD4+CD25+ regulatory T...	OMIM:619802
Immunodeficiency 18	Decreased proportion of CD3-positive T cells, Lymphopenia	OMIM:615615
Agammaglobulinemia 7, Autosomal Recessive	Reduced natural killer cell count, Neutropenia	OMIM:615214
Immunodeficiency 105	Impaired lymphocyte transformation with phytohemagglutinin, Pancytopenia, Hepatosplenomegaly, T l...	OMIM:619924
Immunodeficiency 50	Lymphopenia, Neutropenia	OMIM:300988
Lymphoproliferative Syndrome 3	Reduced natural killer cell count, Hepatosplenomegaly	OMIM:618261
Adult Idiopathic Neutropenia	Abnormal neutrophil count, Monocytosis, Neutropenia, Monocytopenia, Lymphopenia	ORPHA:2688
Thrombocytopenia 2	Leukocytosis, Thrombocytopenia	OMIM:188000
Diamond-Blackfan Anemia 18	Erythroid hypoplasia, Steroid-responsive anemia, Neutropenia	OMIM:618310
Immunodeficiency 20	Reduced natural killer cell count	OMIM:615707
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease	Acute myeloid leukemia, Pancytopenia, Hypertriglyceridemia, Elevated circulating C-reactive prote...	ORPHA:158057
Ras-Associated Autoimmune Leukoproliferative Disorder	Hemolytic anemia, Pancytopenia, Autoimmune thrombocytopenia, Splenomegaly, Monocytosis, Lymphocyt...	OMIM:614470
Immunodeficiency 32B	Neutrophilia, Eosinophilia, Splenomegaly, Anemia, Impaired oxidative burst, Hypoalbuminemia, Mono...	OMIM:226990
Autoinflammation With Infantile Enterocolitis	Pancytopenia, Elevated circulating C-reactive protein concentration, Splenomegaly, Increased circ...	OMIM:616050
Severe Combined Immunodeficiency Due To Foxn1 Deficiency	T lymphocytopenia, Congenital alopecia totalis	ORPHA:169095
Neutropenia, Severe Congenital, 2, Autosomal Dominant	Monocytosis, B lymphocytopenia, Neutropenia	OMIM:613107
Neutropenia, Severe Congenital, 7, Autosomal Recessive	Neutropenia	OMIM:617014
Immunodeficiency 102	Autoimmune thrombocytopenia, Neutropenia in presence of anti-neutropil antibodies, Leukopenia, De...	OMIM:301082
Cyclic Neutropenia	Cyclic neutropenia	OMIM:162800
Immunodeficiency 103, Susceptibility To Fungal Infections	Abnormal B cell count, Decreased serum iron, Hypereosinophilia, Abnormal proportion of CD8-positi...	OMIM:212050
X-Linked Severe Congenital Neutropenia	Monocytopenia, Neutropenia	ORPHA:86788
Neutropenia, Severe Congenital, 1, Autosomal Dominant	Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Monocytosis, Neutropenia, Thr...	OMIM:202700
Whim Syndrome 2	Chronic neutropenia	OMIM:619407
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency	Hypopigmentation of hair, Neutropenia	ORPHA:90023
Immunodeficiency 15A	Decreased proportion of CD4-positive helper T cells, Decreased proportion of CD8-positive T cells...	OMIM:618204
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy	Impaired lymphocyte transformation with phytohemagglutinin, Hypertriglyceridemia, Increased circu...	OMIM:619313
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia	Pancytopenia, Impaired neutrophil chemotaxis, Neutropenia, Hepatosplenomegaly, Leukopenia, T lymp...	OMIM:618986
Immunodeficiency 43	Lung abscess, Hypoalbuminemia, Decreased circulating beta-2-microglobulin level, B lymphocytopeni...	OMIM:241600
Neutropenia, Severe Congenital, 6, Autosomal Recessive	Neutropenia	OMIM:616022
Glutathione Synthetase Deficiency	Hemolytic anemia, Ataxia, Spastic tetraparesis, Increased level of L-pyroglutamic acid in urine, ...	OMIM:266130
Immunodeficiency 57 With Autoinflammation	Perianal abscess, T lymphocytopenia, Reduced natural killer cell count, B lymphocytopenia	OMIM:618108
Malaria	Anemia, Elevated circulating C-reactive protein concentration, Hyperbilirubinemia, Thrombocytopenia	ORPHA:673
Immunodeficiency 24	Lymphopenia, Decreased proportion of memory B cells, Decreased CD4:CD8 ratio, Reduced proportion ...	OMIM:615897
Neutropenia, Chronic Familial	Neutropenia	OMIM:162700
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To	Acute myeloid leukemia, Refractory anemia, Leukopenia, Monocytosis, Bone marrow hypocellularity	OMIM:616871
Immunodeficiency 14B, Autosomal Recessive	Neutrophilia, Leukocytosis, Monocytosis, B lymphocytopenia, Thrombocytosis	OMIM:619281
Immunodeficiency 53	Impaired lymphocyte transformation with phytohemagglutinin, Neutrophilia	OMIM:617585
Aicardi-Goutieres Syndrome 2	Spastic paraplegia, Lymphocytosis, Dystonia	OMIM:610181
Pontocerebellar Hypoplasia, Type 14	Chronic neutropenia, Spastic tetraplegia, Hypertonia, Dystonia, Thrombocytopenia	OMIM:619301
Folate Malabsorption, Hereditary	Ataxia, Folate-responsive megaloblastic anemia, Leukopenia, Athetosis, Neutropenia, Thrombocytopenia	OMIM:229050
Hemophagocytic Lymphohistiocytosis, Familial, 4	Hypertriglyceridemia, Splenomegaly, Increased circulating ferritin concentration, Anemia, Hemopha...	OMIM:603552
Pontocerebellar Hypoplasia, Type 15	Chronic neutropenia, Spastic tetraplegia, Anemia, Hypertonia, Dystonia, Thrombocytopenia	OMIM:619302
Hemochromatosis, Type 3	Increased circulating ferritin concentration, Elevated transferrin saturation, Increased serum ir...	OMIM:604250
Agammaglobulinemia 3, Autosomal Recessive	Neutropenia, Absent circulating B cells, Abnormal T cell morphology	OMIM:613501
Immunodeficiency 85 And Autoimmunity	T lymphocytopenia, Decreased proportion of CD4-positive helper T cells, Lymphopenia, Decreased pr...	OMIM:619510
Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency	Neutropenia	ORPHA:70592
Glutathione Peroxidase Deficiency	Heinz bodies, Neonatal hyperbilirubinemia, Compensated hemolytic anemia	OMIM:614164
Ataxia-Pancytopenia Syndrome	Pancytopenia, Ataxia, Babinski sign, Acute myelomonocytic leukemia, Dysmetria, Anemia, Ankle clon...	OMIM:159550
Immune Thrombocytopenia	Thrombocytopenia	OMIM:188030
Immunodeficiency 54	Splenomegaly, Reduced natural killer cell count	OMIM:609981
Combined Immunodeficiency, X-Linked	Decreased proportion of CD4-positive helper T cells, Decreased proportion of CD8-positive T cells	OMIM:312863
Transcobalamin Deficiency	Pancytopenia, Lymphopenia, Thrombocytopenia, Neutropenia	ORPHA:859
Cernunnos-Xlf Deficiency	Anemia, T lymphocytopenia, B lymphocytopenia, Lymphopenia, Thrombocytopenia	ORPHA:169079
Trimethylaminuria	Splenomegaly, Anemia, Neutropenia	OMIM:602079
Fanconi Anemia, Complementation Group G	Thrombocytopenia, Leukemia, Anemia, Neutropenia	OMIM:614082
Neutropenia, Severe Congenital, 5, Autosomal Recessive	Extramedullary hematopoiesis, Splenomegaly, Thrombocytopenia, Leukopenia, Neutropenia, Anemia	OMIM:615285
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes	T lymphocytopenia	OMIM:242870
Wiskott-Aldrich Syndrome 2	Decreased proportion of CD8-positive T cells, Thrombocytopenia	OMIM:614493
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0	Dystonia, Hemiplegia/hemiparesis, Chorea, Hyperammonemia, Anemia, Choreoathetosis, Neutropenia, T...	ORPHA:289916
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome	Abscess, Abnormal CD4:CD8 ratio, Splenomegaly, Neutropenia, B lymphocytopenia, Intermittent throm...	OMIM:150550
Spinocerebellar Ataxia, Autosomal Recessive 23	Hyponatremia, Ataxia, Neutropenia	OMIM:616949
Immunodeficiency Due To Defect In Mapbp-Interacting Protein	Neutropenia	OMIM:610798
Hyperbilirubinemia, Shunt, Primary	Reticulocytosis, Anemia of inadequate production, Splenomegaly, Hyperbilirubinemia, Erythroid hyp...	OMIM:237800
Autosomal Dominant Severe Congenital Neutropenia	Acute myeloid leukemia, Osteopenia, Aplastic anemia, Eosinophilia, Acute lymphoblastic leukemia, ...	ORPHA:486
Eosinophilia, Familial	Anemia, Leukocytosis, Eosinophilia, Thrombocytopenia	OMIM:131400
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections	Cutaneous abscess, Lymphopenia, Reduced natural killer cell count, Neutropenia	OMIM:619752
Combined Cellular And Humoral Immune Defects With Granulomas	T lymphocytopenia, B lymphocytopenia	OMIM:233650
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections	Decreased proportion of CD4-positive helper T cells, Reduced natural killer cell count, Eosinophi...	OMIM:243700
Lymphoproliferative Syndrome, X-Linked, 1	Pancytopenia, Aplastic anemia, Elevated circulating C-reactive protein concentration, Splenomegal...	OMIM:308240
Hemolytic Anemia Due To Glutathione Reductase Deficiency	Hyperbilirubinemia, Fava bean-induced hemolytic anemia	OMIM:618660
Systemic Lupus Erythematosus 17	Alopecia, Autoimmune thrombocytopenia, Chorea, Leukopenia, Lymphopenia, Thrombocytopenia	OMIM:301080
T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy	T lymphocytopenia, Alopecia, Decreased helper T cell proportion, Nail dystrophy	OMIM:601705
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant	T lymphocytopenia, Nail dystrophy, Abnormally low T cell receptor excision circle level	OMIM:618806
Immunodeficiency 48	Absence of CD8-positive T cells, Splenomegaly	OMIM:269840
Sickle Cell Anemia	Hemolytic anemia, Reticulocytosis, Microcytic anemia, Abnormality of the spleen, Leukocytosis, El...	ORPHA:232
Red Cell Phospholipid Defect With Hemolysis	Splenomegaly, Reticulocytosis, Hyperbilirubinemia	OMIM:179700
Neutrophilia, Hereditary	Splenomegaly, Neutrophilia	OMIM:162830
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)	T lymphocytopenia, Hypocalcemia	DECIPHER:16
Immunodeficiency 8 With Lymphoproliferation	Lymphopenia	OMIM:615401
Immunodeficiency 19	T lymphocytopenia, Abnormal B cell morphology, Abnormal natural killer cell morphology	OMIM:615617
Immunodeficiency 91 And Hyperinflammation	Neutrophilia, Elevated circulating C-reactive protein concentration, Hepatosplenomegaly, Monocyto...	OMIM:619644
Neutropenia, Severe Congenital, 3, Autosomal Recessive	Acute lymphoblastic leukemia, Clumsiness, Neutropenia	OMIM:610738
Acquired Idiopathic Sideroblastic Anemia	Normocytic anemia, Acute myeloid leukemia, Pancytopenia, Anemia of inadequate production, Splenom...	ORPHA:75564
Immunodeficiency 76	Splenomegaly, Lymphopenia, B lymphocytopenia, T lymphocytopenia	OMIM:619164
Dyskeratosis Congenita, Autosomal Recessive 8	Sparse scalp hair, Pancytopenia, B lymphocytopenia, Bone marrow hypocellularity, Nail dystrophy, ...	OMIM:620133
Relapsing Fever	Neutrophilia, Elevated circulating C-reactive protein concentration, Leukocytosis, Elevated circu...	ORPHA:91547
Neutropenia, Lethal Congenital, With Eosinophilia	Eosinophilia, Neutropenia	OMIM:257100
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-	Dystonia, Splenomegaly, Hyperammonemia, Anemia, Choreoathetosis, Neutropenia, Thrombocytopenia	ORPHA:79312
Niemann-Pick Disease, Type B	Decreased HDL cholesterol concentration, Hypertriglyceridemia, Bone-marrow foam cells, Thrombocyt...	OMIM:607616
Infantile Sialic Acid Storage Disease	Osteopenia, Conjugated hyperbilirubinemia, Splenomegaly, Vacuolated lymphocytes, Fair hair	OMIM:269920
Cd8 Deficiency, Familial	Absence of CD8-positive T cells	OMIM:608957
Refractory Anemia	Normocytic anemia, Macrocytic anemia, Anemia of inadequate production, Erythroid hypoplasia, Norm...	ORPHA:98826
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency	Alopecia, Eosinophilia, Autoimmune thrombocytopenia, Decreased proportion of CD8-positive T cells...	ORPHA:169154
Agammaglobulinemia 4, Autosomal Recessive	Neutropenia, Abnormal T cell morphology	OMIM:613502
Hemophagocytic Syndrome Associated With An Infection	Pancytopenia, Hypertriglyceridemia, Ataxia, Splenomegaly, Increased circulating ferritin concentr...	ORPHA:158048
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
Bleeding Disorder, Platelet-Type, 9	Thrombocytopenia	OMIM:614200
Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome	Amegakaryocytic thrombocytopenia	ORPHA:71289
Macrophage Activation Syndrome	Hypertriglyceridemia, Elevated circulating C-reactive protein concentration, Splenomegaly, Increa...	ORPHA:158061
Agammaglobulinemia 10, Autosomal Dominant	Transient neutropenia, Absent circulating B cells	OMIM:619707
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1	T lymphocytopenia, Reduced natural killer cell count	OMIM:242860
Bone Marrow Failure Syndrome 6	Osteopenia, Persistence of hemoglobin F, Increased mean corpuscular volume, Bone marrow hypocellu...	OMIM:618849
Alpha-Thalassemia-Myelodysplastic Syndrome	Microcytic anemia, Splenomegaly, Acute leukemia, Neutropenia, HbH hemoglobin, Thrombocytopenia	ORPHA:231401
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2	Acute myeloid leukemia, Pancytopenia, Anemia, Increased mean corpuscular volume, Bone marrow hypo...	OMIM:619041
Acute Myelomonocytic Leukemia	Thrombocytopenia, Leukocytosis, Eosinophilia, Anemia	ORPHA:517
Immunodeficiency 46	Neutropenia, Anemia, Intermittent thrombocytopenia	OMIM:616740
Bone Marrow Failure Syndrome 2	Leukopenia, Thrombocytopenia, Bone marrow hypocellularity, Anemia	OMIM:615715
Immunodeficiency 84	Perianal abscess, Splenomegaly, B lymphocytopenia	OMIM:619437
Cholestasis, Progressive Familial Intrahepatic, 12	Conjugated hyperbilirubinemia, Splenomegaly, Increased serum bile acid concentration, Hyperbiliru...	OMIM:620010
Megaloblastic Anemia, Folate-Responsive	Folate-responsive megaloblastic anemia, Increased circulating ferritin concentration, Schistocyto...	OMIM:601775
Fanconi Anemia, Complementation Group V	Elevated circulating alpha-fetoprotein concentration, Thrombocytopenia, Bone marrow hypocellulari...	OMIM:617243
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency	Reticulocytosis, Anisocytosis, Abnormal erythrocyte morphology, Reduced red cell pyruvate kinase ...	ORPHA:766
Hemophagocytic Lymphohistiocytosis, Familial, 1	Hyponatremia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Ataxia, Increased VL...	OMIM:267700
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia	B lymphocytopenia, Abnormally low T cell receptor excision circle level	OMIM:618987
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5	Elevated circulating creatinine concentration, Hyperuricemia, Anemia, Neutropenia	OMIM:617056
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency	Lymphopenia, Hypoplasia of the thymus	OMIM:200900
Pgm3-Cdg	Hemolytic anemia, Abnormal proportion of CD8-positive T cells, Eosinophilia, Ataxia, Abnormal CD4...	ORPHA:443811
Griscelli Syndrome Type 2	Hypopigmentation of hair, Pancytopenia, Splenomegaly, Hyperlipidemia, Premature graying of hair, ...	ORPHA:79477
Gaucher Disease, Atypical, Due To Saposin C Deficiency	Osteopenia, Hypersplenism, Splenomegaly, Anemia, Myoclonus, Hypocholesterolemia, Thrombocytopenia...	OMIM:610539
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2	Elevated circulating C-reactive protein concentration, Perianal abscess, Iron deficiency anemia, ...	OMIM:301074
Anemia, Sideroblastic, 5	Thrombocytopenia, Hypochromic microcytic anemia, Reduced hematocrit, Neutropenia, Anemia	OMIM:619523
Immunodeficiency By Defective Expression Of Mhc Class Ii	Pancytopenia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Abnormal CD4:CD8 ratio, N...	ORPHA:572
Autoinflammatory Syndrome, Familial, Behcet-Like 1	Hemolytic anemia, Chorea, Lymphopenia, Thrombocytopenia	OMIM:616744
Whim Syndrome 1	Neutropenia	OMIM:193670
Myelolymphatic Insufficiency	Leukopenia, Hyposegmentation of neutrophil nuclei	OMIM:310350
Neutropenia, Nonimmune Chronic Idiopathic, Of Adults	Acute myeloid leukemia, Neutropenia	OMIM:607847
Hermansky-Pudlak Syndrome 2	Absent platelet dense granules, Fair hair, Decreased CD4:CD8 ratio, Albinism, Splenomegaly, Impai...	OMIM:608233
Sea-Blue Histiocyte Disease	Splenomegaly, Thrombocytopenia, Sea-blue histiocytosis, Absent axillary hair	OMIM:269600
Congenital Amegakaryocytic Thrombocytopenia	Thrombocytopenia, Decreased skull ossification, Abnormal hemoglobin, Anemia	ORPHA:3319
Immunodeficiency 68	T lymphocytopenia, Abnormal natural killer cell count, B lymphocytopenia, Abscess	OMIM:612260
Persistent Polyclonal B-Cell Lymphocytosis	Splenomegaly, Lymphocytosis	OMIM:606445
Diaph1-Related Sensorineural Hearing Loss-Thrombocytopenia Syndrome	Iron deficiency anemia, Thrombocytopenia, Increased mean platelet volume, Neutropenia	ORPHA:494444
Immunodeficiency 13	Lymphopenia, T lymphocytopenia, B lymphocytopenia, Decreased proportion of CD4-positive helper T ...	OMIM:615518
Episodic Ataxia, Type 1	Incoordination, Elevated circulating creatine kinase concentration, Tremor, Babinski sign, Slurre...	OMIM:160120
Beemer Lethal Malformation Syndrome	Thrombocytopenia	OMIM:209970
Vitamin B12-Unresponsive Methylmalonic Acidemia	Macrocytic anemia, Ataxia, Paraparesis, Hyperammonemia, Anemia, Leukopenia, Choreoathetosis, Tetr...	ORPHA:27
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome	Hemolytic anemia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Hemipar...	ORPHA:444463
Specific Granule Deficiency 2	Osteopenia, Absent neutrophil specific granules, Hirsutism, Anemia, Neutropenia, Thrombocytopenia	OMIM:617475
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension	Thrombocytopenia	OMIM:166990
Wolcott-Rallison Syndrome	Hyponatremia, Hyperammonemia, Iron deficiency anemia, Hypoalbuminemia, Lymphocytosis, Hyperbiliru...	ORPHA:1667
Wolfram Syndrome, Mitochondrial Form	Sideroblastic anemia, Neutropenia, Thrombocytopenia, Megaloblastic anemia	OMIM:598500
Preeclampsia/Eclampsia 1	Thrombocytopenia	OMIM:189800
Hypermanganesemia With Dystonia 1	Hypermanganesemia, Dystonia, Parkinsonism, Tremor, Rigidity, Bradykinesia, Poor fine motor coordi...	OMIM:613280
Propionic Acidemia	Pancytopenia, Dystonia, Osteoporosis, Hyperglycinuria, Hyperammonemia, Anemia, Hyperglycinemia, N...	OMIM:606054
Agammaglobulinemia 8A, Autosomal Dominant	B lymphocytopenia	OMIM:616941
Immunodeficiency 98 With Autoinflammation, X-Linked	Myelofibrosis, Autoimmune hemolytic anemia, Splenomegaly, B lymphocytopenia, Hemophagocytosis, Bo...	OMIM:301078
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease	Hypertriglyceridemia, Splenomegaly, Thrombocytopenia, Increased circulating ferritin concentratio...	OMIM:613101
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency	Methylmalonic acidemia, Hyperammonemia, Leukopenia, Hyperglycinemia, Neutropenia, Thrombocytopenia	OMIM:251000
Immunodeficiency 95	Lymphopenia	OMIM:619773
Lymphoproliferative Syndrome 1	Pancytopenia, Autoimmune hemolytic anemia, Elevated circulating C-reactive protein concentration,...	OMIM:613011
Congenital Disorder Of Glycosylation, Type Iif	Ataxia, Macrothrombocytopenia, Aminoaciduria, Neutropenia, Decreased platelet glycoprotein Ib, Th...	OMIM:603585
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency	Decreased hemoglobin concentration, Hemolytic anemia, Reticulocytosis, Ataxia, Tremor, Hyperbilir...	ORPHA:713
Immunodeficiency 104	Splenomegaly, T lymphocytopenia	OMIM:608971
Methylmalonic Aciduria And Homocystinuria, Cblj Type	Methylmalonic acidemia, Hypomethioninemia, Hyperhomocystinemia, Normochromic anemia, Elevated cir...	OMIM:614857
Amegakaryocytic Thrombocytopenia, Congenital, 1	Amegakaryocytic thrombocytopenia, Pancytopenia, Thrombocytopenia	OMIM:604498
Diamond-Blackfan Anemia 8	Macrocytic anemia, Increased mean corpuscular volume, Neutropenia	OMIM:612563
Cholestasis, Progressive Familial Intrahepatic, 10	Conjugated hyperbilirubinemia, Splenomegaly, Hypoalbuminemia, Increased serum bile acid concentra...	OMIM:619868
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2	Thrombocytopenia, Congenital thrombocytopenia, Anemia, Neutropenia	OMIM:616738
Immunodeficiency 52	Decreased proportion of CD4-positive T cells, Autoimmune thrombocytopenia, Splenomegaly, Increase...	OMIM:617514
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency	Reticulocytosis, Anisocytosis, Splenomegaly, Leukocytosis, Poikilocytosis, Fava bean-induced hemo...	OMIM:300908
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
Immunodeficiency With Hyper-Igm, Type 3	Neutropenia	OMIM:606843
Immunodeficiency 55	Absent natural killer cells, Lymphopenia, Neutropenia	OMIM:617827
Hemophagocytic Lymphohistiocytosis, Familial, 2	Hyponatremia, Pancytopenia, Hypertriglyceridemia, Ataxia, Splenomegaly, Increased circulating fer...	OMIM:603553
Immunodeficiency 62	Increased proportion of transitional B cells, Decreased proportion of memory B cells, B lymphocyt...	OMIM:618459
Forsythe-Wakeling Syndrome	Osteoporosis, Thrombocytopenia	OMIM:613606
Aicardi-Goutieres Syndrome 3	Spasticity, Dystonia, Thrombocytopenia, Hepatosplenomegaly	OMIM:610329
Immunodeficiency 93 And Hypertrophic Cardiomyopathy	Decreased proportion of class-switched memory B cells, B lymphocytopenia, Absent circulating B ce...	OMIM:619705
Hepatoportal Sclerosis	Hypersplenism, Splenomegaly, Anemia, Leukopenia, Hypoalbuminemia, Hyperbilirubinemia, Thrombocyto...	ORPHA:64743
Aregenerative Anemia	Pancytopenia, Erythroid hypoplasia, Reticulocytopenia, Bone marrow hypocellularity, Neutropenia, ...	ORPHA:101096
Thrombocytopenia 5	B Acute Lymphoblastic Leukemia, Anemia, Increased mean corpuscular volume, Neutropenia, Thrombocy...	OMIM:616216
Purine Nucleoside Phosphorylase Deficiency	Autoimmune hemolytic anemia, Hypouricemia, Increased circulating guanosine concentration, Pure re...	OMIM:613179
Slc35A1-Cdg	Giant platelets, Abnormal platelet granules, Thrombocytopenia, Neutropenia	ORPHA:238459
Mosaic Variegated Aneuploidy Syndrome 4	Abnormality of chromosome stability	OMIM:620153
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome	Decreased proportion of CD4-positive helper T cells, Decreased proportion of CD8-positive T cells...	OMIM:617241
Microcephalic Primordial Dwarfism, Toriello Type	Neutropenia	ORPHA:2643
Immunodeficiency 109 With Lymphoproliferation	Splenomegaly, Pancytopenia, Hypertriglyceridemia, Absent circulating B cells	OMIM:620282
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant	Splenomegaly, Increased proportion of transitional B cells, T lymphocytopenia, Decreased proporti...	OMIM:615513
Macrothrombocytopenia, Isolated, 2, Autosomal Dominant	Macrothrombocytopenia	OMIM:619840
Combined Oxidative Phosphorylation Deficiency 34	Pancytopenia, Elevated circulating creatinine concentration, Increased blood urea nitrogen	OMIM:617872
Noonan Syndrome 12	Lymphopenia, Thrombocytopenia	OMIM:618624
Proteasome-Associated Autoinflammatory Syndrome 2	Increased CD4:CD8 ratio, Elevated circulating C-reactive protein concentration, B lymphocytopenia...	OMIM:618048
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies	Osteopenia, Ataxia, Abnormal T cell subset distribution, Low posterior hairline, Intention tremor...	ORPHA:221139
Reticular Dysgenesis	Leukopenia, Congenital agranulocytosis, Lymphopenia, Hypoplasia of the thymus	OMIM:267500
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells	Hypersplenism, Splenomegaly, Pancytopenia, Decreased helper T cell proportion	OMIM:183350
Bilateral Striopallidodentate Calcinosis	Thrombocytopenia	ORPHA:1980
Lymphangiectasia, Intestinal	Abnormal hair morphology, Lymphopenia, Neonatal hypoproteinemia	OMIM:152800
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive	T lymphocytopenia, B lymphocytopenia	OMIM:601457
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency	T lymphocytopenia, Lymphopenia, B lymphocytopenia	ORPHA:277
Preeclampsia	Elevated circulating creatinine concentration, Thrombocytopenia	ORPHA:275555
Aicardi-Goutieres Syndrome 6	Hemolytic anemia, Rigidity, Splenomegaly, Tremor, Dystonia, Thrombocytopenia	OMIM:615010
Combined Immunodeficiency Due To Partial Rag1 Deficiency	Autoimmune hemolytic anemia, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, ...	ORPHA:231154
Onychotrichodysplasia And Neutropenia	Curly hair, Chronic neutropenia, Curly eyelashes, Sparse pubic hair, Lymphocytosis, Short eyelash...	OMIM:258360
Osteopetrosis, Autosomal Recessive 5	Pancytopenia, Extramedullary hematopoiesis, Increased bone mineral density, Clonus, Splenomegaly,...	OMIM:259720
Congenital Enterovirus Infection	Abnormal macrophage morphology, Leukocytosis, Hyperammonemia, Anemia, Leukopenia, Hypoalbuminemia...	ORPHA:292
Myalgia-Eosinophilia Syndrome Associated With Tryptophan	Lymphopenia, Eosinophilia	ORPHA:2582
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis	Lymphopenia, Autoimmune hemolytic anemia, Plasmacytosis	OMIM:247800
Glut1 Deficiency Syndrome 2	Hemolytic anemia, Reticulocytosis, Ataxia, Tremor, Splenomegaly, Choreoathetosis, Dystonia, Reduc...	OMIM:612126
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis	Decreased proportion of CD4-positive helper T cells, Decreased proportion of CD8-positive T cells	OMIM:611926
Diamond-Blackfan Anemia 4	Erythroid hypoplasia, Macrocytic anemia, Reticulocytopenia, Neutropenia	OMIM:612527
Leishmaniasis	Pancytopenia, Abnormal macrophage morphology, Splenomegaly, Anemia, Leukopenia, Hypoalbuminemia, ...	ORPHA:507
Harderoporphyria	Hemolytic anemia, Reticulocytosis, Splenomegaly, Increased circulating ferritin concentration, Ne...	OMIM:618892
Mitochondrial Complex I Deficiency, Nuclear Type 33	Hyperammonemia, Neutropenia, Sparse hair, Spasticity, Craniofacial dystonia	OMIM:618253
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency	Abnormal B cell count, Abnormal T cell count, Autoimmune hemolytic anemia, Eosinophilia, Hepatosp...	ORPHA:331206
Thrombocytopenia 7	Reduced platelet alpha granules, Impaired ristocetin-induced platelet aggregation, Impaired ADP-i...	OMIM:619130
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome	Abnormal hair quantity, Lymphopenia, Hypoproteinemia	ORPHA:1116
Dehydrated Hereditary Stomatocytosis 2	Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Increased mean corpuscular hemog...	OMIM:616689
Pelger-Huet Anomaly	Abnormality of neutrophils, Hyposegmentation of neutrophil nuclei, Giant platelets, Lower limb hy...	OMIM:169400
Aggressive Systemic Mastocytosis	Pancytopenia, Hypersplenism, Thrombocytopenia, Leukocytosis, Osteoporosis, Osteolysis, Hepatosple...	ORPHA:98850
Purine Nucleoside Phosphorylase Deficiency	Autoimmune hemolytic anemia, Abnormal central motor function, Hypouricemia, Ataxia, Cerebral pals...	ORPHA:760
Thrombotic Thrombocytopenic Purpura	Decreased serum creatinine, Reticulocytosis, Microangiopathic hemolytic anemia, Thrombocytopenia	ORPHA:54057
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome	Abnormal hemoglobin, Splenomegaly, Thrombocytopenia, Abnormal platelet function, Anemia	ORPHA:231393
Congenital Disorder Of Glycosylation, Type Iik	Osteoporosis, Elevated circulating creatine kinase concentration, Thrombocytopenia	OMIM:614727
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias	Decreased proportion of class-switched memory B cells, Lymphopenia, Decreased proportion of CD4+C...	OMIM:619846
Trichothiodystrophy 3, Photosensitive	Brittle hair, Hypertonia, Neutropenia, Tiger tail banding, Lymphopenia, Trichorrhexis nodosa	OMIM:616395
Immunodeficiency 110 With Lymphoproliferation	Autoimmune hemolytic anemia, Lymphopenia, Neutropenia	OMIM:614868
Agammaglobulinemia 2, Autosomal Recessive	Absent circulating B cells, Abnormal T cell morphology	OMIM:613500
Immunodeficiency, Common Variable, 13	Acute lymphoblastic leukemia, Pancytopenia, B lymphocytopenia	OMIM:616873
Ceroid Lipofuscinosis, Neuronal, 5	Ataxia, Vacuolated lymphocytes, Limb tremor, Dysmetria, Clumsiness, Dysdiadochokinesis, Myoclonus	OMIM:256731
Immunodeficiency 78 With Autoimmunity And Developmental Delay	Fluctuating splenomegaly, Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil ...	OMIM:619220
Leukodystrophy, Hypomyelinating, 24	B lymphocytopenia, Tongue fasciculations	OMIM:619851
Glycogen Storage Disease Vii	Hemolytic anemia, Reticulocytosis, Elevated circulating creatine kinase concentration, Reduced er...	OMIM:232800
Diffuse Alveolar Hemorrhage	Thrombocytopenia, Leukocytosis, Elevated circulating creatinine concentration, Anemia	ORPHA:90060
Ghosal Hematodiaphyseal Dysplasia	Refractory anemia, Myelofibrosis, Increased bone mineral density, Leukopenia, Hyperostosis crania...	OMIM:231095
Mu-Heavy Chain Disease	Abnormal B cell count, Splenomegaly, Osteoporosis, Osteolysis, Anemia	ORPHA:100024
Bone Marrow Failure Syndrome 4	Leukopenia, Thrombocytopenia, Bone marrow hypocellularity, Anemia	OMIM:618116
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency	Impaired lymphocyte transformation with phytohemagglutinin, Absent natural killer cells, Hepatosp...	ORPHA:35078
Acquired Partial Lipodystrophy	Lymphocytosis, Generalized hirsutism	ORPHA:79087
Dyskeratosis Congenita, Autosomal Dominant 2	Pancytopenia, Aplastic anemia, Osteoporosis, Premature graying of hair, Leukopenia, White foreloc...	OMIM:613989
Neutropenia, Severe Congenital, 8, Autosomal Dominant	Neutropenia	OMIM:618752
Methylmalonic Aciduria, Cblb Type	Methylmalonic acidemia, Pancytopenia, Hyperammonemia, Anemia, Hyperglycinemia, Neutropenia, Throm...	OMIM:251110
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7	Osteopenia, Premature graying of hair, Anemia, Nail dystrophy, Lymphopenia, Thrombocytopenia	OMIM:620365
Isovaleric Acidemia	Pancytopenia, Hyperglycinuria, Leukopenia, Bone marrow hypocellularity, Thrombocytopenia	OMIM:243500
Methylcobalamin Deficiency Type Cble	Hypomethioninemia, Macrocytic anemia, Pancytopenia, Osteoporosis, Hyperhomocystinemia, Lower limb...	ORPHA:2169
Omenn Syndrome	Alopecia, Severe B lymphocytopenia, Eosinophilia, Splenomegaly, Thrombocytopenia, Hypoplasia of t...	OMIM:603554
Cyclic Neutropenia	Cyclic neutropenia, Perianal abscess, Decreased eosinophil count, Lymphopenia, Tooth abscess, Thr...	ORPHA:2686
Bile Acid Synthesis Defect, Congenital, 5	Splenomegaly, Iron deficiency anemia, Increased total iron binding capacity, Increased serum bile...	OMIM:616278
Methylmalonic Aciduria, Cbla Type	Methylmalonic acidemia, Pancytopenia, Tremor, Hyperammonemia, Anemia, Hyperglycinemia, Neutropeni...	OMIM:251100
Griscelli Syndrome	Abnormal eyebrow morphology, Ataxia, Abnormality of neutrophils, Abnormal eyelash morphology, Spl...	ORPHA:381
Nephrotic Syndrome, Type 7	Hemolytic anemia, Hypoalbuminemia, Thrombocytopenia	OMIM:615008
Immunodeficiency 7	Autoimmune hemolytic anemia, Splenomegaly, Hypereosinophilia, Patchy alopecia, Neutropenia	OMIM:615387
Progressive Multifocal Leukoencephalopathy	Weakness due to upper motor neuron dysfunction, Parkinsonism, Decreased proportion of CD8-positiv...	ORPHA:217260
Immunodeficiency 69	Pancytopenia, Splenomegaly, Leukocytosis, Increased circulating ferritin concentration, Hepatospl...	OMIM:618963
Autoimmune Lymphoproliferative Syndrome	Autoimmune hemolytic anemia, Eosinophilia, Autoimmune thrombocytopenia, Splenomegaly, Increased p...	OMIM:601859
Adenosine Deaminase, Elevated, Hemolytic Anemia Due To	Hemolytic anemia, Reticulocytosis, Stomatocytosis, Reduced erythrocyte adenosine triphosphate con...	OMIM:301083
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss	Leukocyte inclusion bodies, Giant platelets, Macrothrombocytopenia, Neutrophil inclusion bodies, ...	OMIM:155100
Anemia, Congenital Dyserythropoietic, Type Iv	Decreased hemoglobin concentration, Hemolytic anemia, Circulating nucleated red blood cells, Reti...	OMIM:613673
Erythroleukemia, Familial, Susceptibility To	Acute myeloid leukemia, Splenomegaly, Anemia, Erythroid hyperplasia, Leukemia, Thrombocytopenia	OMIM:133180
Refractory Anemia With Excess Blasts	Acute myeloid leukemia, Abnormal circulating protein concentration, Anemia of inadequate producti...	ORPHA:86839
Methylmalonic Aciduria And Homocystinuria, Cblf Type	Methylmalonic acidemia, Pancytopenia, Incoordination, Megaloblastic anemia, Cystathioninuria, Hyp...	OMIM:277380
3-Methylglutaconic Aciduria, Type Viib	Dystonia, Ataxia, Tremor, Opisthotonus, Choreoathetosis, Leukopenia, Hyperkinetic movements, Myoc...	OMIM:616271
Amed Syndrome, Digenic	Acute myeloid leukemia, Anemia, Leukopenia, Bone marrow hypocellularity, Thrombocytopenia	OMIM:619151
Atypical Hemolytic Uremic Syndrome	Microangiopathic hemolytic anemia, Thrombocytopenia	ORPHA:2134
Anemia, Sideroblastic, 3, Pyridoxine-Refractory	Anisocytosis, Conjugated hyperbilirubinemia, Splenomegaly, Increased circulating ferritin concent...	OMIM:616860
Combined Immunodeficiency Due To Dock8 Deficiency	T lymphocytopenia, B lymphocytopenia	ORPHA:217390
Immunodeficiency 70	Decreased proportion of CD4-positive helper T cells, B lymphocytopenia	OMIM:618969
Poikiloderma With Neutropenia	Elevated circulating creatine kinase concentration, Sparse eyebrow, Splenomegaly, Low posterior h...	OMIM:604173
Spherocytosis, Type 4	Hemolytic anemia, Reticulocytosis, Splenomegaly, Spherocytosis, Hyperbilirubinemia	OMIM:612653
Chronic Myeloid Leukemia	Splenomegaly, Leukocytosis, Abnormal granulocyte morphology, Myeloproliferative disorder, Thrombo...	ORPHA:521
Hyper-Ige Syndrome 5, Autosomal Recessive, With Recurrent Infections	Cutaneous abscess, Reduced circulating C-reactive protein concecntration, Decreased proportion of...	OMIM:618944
Atelis Syndrome 1	Leukopenia, Thrombocytopenia, Hypertonia, Anemia	OMIM:620184
Aplasia Cutis Congenita With Intestinal Lymphangiectasia	Lymphopenia, Hypoproteinemia	OMIM:207731
Myopathy With Extrapyramidal Signs	Extremely elevated creatine kinase, Ataxia, Elevated circulating creatine kinase concentration, C...	OMIM:615673
Chediak-Higashi Syndrome	Impaired neutrophil bactericidal activity, Hypopigmentation of hair, Ataxia, Tremor, Thrombocytop...	OMIM:214500
Felty Syndrome	Splenomegaly, Neutropenia	OMIM:134750
Neutropenia, Severe Congenital, 4, Autosomal Recessive	Intermittent thrombocytopenia, Perianal abscess, Erythroid hypoplasia, Thrombocytopenia, Splenome...	OMIM:612541
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia	Macrocytic anemia, Pancytopenia, Anemia of inadequate production, Megaloblastic anemia, Hyperhomo...	OMIM:617780
Polycythemia Vera	Splenomegaly, Leukocytosis, Increased hemoglobin, Increased red blood cell mass, Increased hemato...	OMIM:263300
Sneddon Syndrome	Tremor, Lymphopenia, Hemiplegia	OMIM:182410
Thyrocerebrorenal Syndrome	Nonprogressive cerebellar ataxia, Slurred speech, Myoclonus, Thrombocytopenia	ORPHA:3327
Agammaglobulinemia 8B, Autosomal Recessive	Pancytopenia, Splenomegaly, Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, B Acu...	OMIM:619824
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency	Normocytic anemia, Reticulocytosis, Splenomegaly, Normochromic anemia, Hyperbilirubinemia, Nonsph...	OMIM:235700
Phosphoglycerate Dehydrogenase Deficiency	Hypertonia, Spastic tetraplegia, Thrombocytopenia, Megaloblastic anemia	OMIM:601815
Spherocytosis, Type 2	Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Spherocytosis, Hyperbilirubinemia	OMIM:616649
X-Linked Agammaglobulinemia	Recurrent cutaneous abscess formation, Alopecia, Anemia, Hypocalcemia, Neutropenia, Thrombocytopenia	ORPHA:47
Roch-Leri Mesosomatous Lipomatosis	Thrombocytopenia	ORPHA:529
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome	Pancytopenia, Abnormal lymphocyte count, Thrombocytopenia, Abnormal natural killer cell count, Pa...	ORPHA:79124
Hermansky-Pudlak Syndrome 9	Leukopenia, Abnormal platelet aggregation, Thrombocytopenia	OMIM:614171
Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency	Anemia, Aminoaciduria, Bone marrow hypocellularity, Neutropenia, Thrombocytopenia	OMIM:614520
Dehydrated Hereditary Stomatocytosis	Hemolytic anemia, Reticulocytosis, Macrocytic anemia, Neonatal hyperbilirubinemia, Anemia of inad...	ORPHA:3202
Felty Syndrome	Splenomegaly, Osteolysis, Anemia, Bone marrow hypocellularity, Neutropenia, Abnormal lymphocyte m...	ORPHA:47612
Immunodeficiency 26 With Or Without Neurologic Abnormalities	T lymphocytopenia, B lymphocytopenia, Abnormal natural killer cell morphology	OMIM:615966
Agammaglobulinemia 6, Autosomal Recessive	B lymphocytopenia, Abnormal T cell morphology	OMIM:612692
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome	Hyponatremia, Pancytopenia, Increased blood urea nitrogen, Anemia, Leukopenia, Hyperuricemia, Hyp...	OMIM:613845
Isolated Agammaglobulinemia	Recurrent cutaneous abscess formation, Abnormality of neutrophils, Thrombocytopenia, Abnormal lym...	ORPHA:229717
3-Methylglutaconic Aciduria Type 7	Abnormal pyramidal sign, Spasticity, Opisthotonus, Choreoathetosis, Hypertonia, Abnormality of ex...	ORPHA:445038
Babesiosis	Splenomegaly, Leukopenia, Hemolytic anemia, Thrombocytopenia	ORPHA:108
Immunodeficiency 44	Lymphopenia	OMIM:616636
Developmental Delay, Hypotonia, And Impaired Language	Ataxia, Neutropenia	OMIM:620012
Crigler-Najjar Syndrome Type 1	Tremor, Neonatal hyperbilirubinemia, Unconjugated hyperbilirubinemia	ORPHA:79234
Mitochondrial Myopathy, Episodic, With Or Without Optic Atrophy And Reversible Leukoencephalopathy	Elevated circulating creatine kinase concentration, Microcytic anemia, Highly elevated creatine k...	OMIM:251900
Spherocytosis, Type 1	Hemolytic anemia, Reticulocytosis, Splenomegaly, Spherocytosis, Hyperbilirubinemia	OMIM:182900
Deafness, Autosomal Dominant 1, With Or Without Thrombocytopenia	Impaired platelet aggregation, Macrothrombocytopenia, Thrombocytopenia	OMIM:124900
Bleeding Disorder, Platelet-Type, 19	Thrombocytopenia, Macrothrombocytopenia, Anemia	OMIM:616176
Immunodeficiency, Common Variable, 1	Splenomegaly, B lymphocytopenia, Neutropenia in presence of anti-neutropil antibodies, Decreased ...	OMIM:607594
Schimke Immuno-Osseous Dysplasia	Thrombocytopenia, Hyperlipidemia, Hemiparesis, Decreased proportion of naive CD8 T cells, Abnorma...	ORPHA:1830
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation	Increased proportion of memory T cells, Increased B cell count, Hepatosplenomegaly	OMIM:618982
Developmental And Epileptic Encephalopathy 66	Synophrys, Anemia, Neutropenia	OMIM:618067
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities	Macrocytic anemia, Anisocytosis, Elliptocytosis, Bone marrow hypocellularity, Poikilocytosis, Neu...	OMIM:300835
Necrotizing Enterocolitis	Hyponatremia, Leukocytosis, Thrombocytopenia, Neutropenia	ORPHA:391673
Anemia, Congenital Dyserythropoietic, Type Ia	Hemolytic anemia, Reticulocytosis, Anemia of inadequate production, Anisocytosis, Splenomegaly, S...	OMIM:224120
Pyruvate Kinase Deficiency Of Red Cells	Reticulocytosis, Decreased hemoglobin concentration, Reduced red cell pyruvate kinase level, Sple...	OMIM:266200
Acute Promyelocytic Leukemia	Pancytopenia, Leukocytosis, Anemia, Leukopenia, Neutropenia, Thrombocytopenia	ORPHA:520
Congenital Dyserythropoietic Anemia Type Iii	Anisocytosis, Abnormal erythrocyte morphology, Increased mean corpuscular volume, Increased serum...	ORPHA:98870
Idiopathic Aplastic Anemia	Pancytopenia, Reticulocytopenia, Anemia, Bone marrow hypocellularity, Neutropenia, Thrombocytopenia	ORPHA:88
Gray Platelet Syndrome	Splenomegaly, Abnormality of thrombocytes, Thrombocytopenia	ORPHA:721
Familial Hemophagocytic Lymphohistiocytosis	Hypertriglyceridemia, Splenomegaly, Increased circulating ferritin concentration, Anemia, Hypoalb...	ORPHA:540
Methylmalonic Aciduria And Homocystinuria, Cblc Type	Methylmalonic acidemia, Hypomethioninemia, Megaloblastic anemia, Tremor, Cystathioninuria, Hyperh...	OMIM:277400
Autoimmune Lymphoproliferative Syndrome, Type Iia	Autoimmune hemolytic anemia, Eosinophilia, Autoimmune thrombocytopenia, Splenomegaly, Increased p...	OMIM:603909
Immunodeficiency 36 With Lymphoproliferation	Splenomegaly, Chronic lymphatic leukemia, Increased proportion of transitional B cells, Decreased...	OMIM:616005
Osteopetrosis, Autosomal Recessive 9	Increased bone mineral density, Cortical sclerosis, Elevated circulating creatinine concentration...	OMIM:620366
Dk Phocomelia Syndrome	Thrombocytopenia	OMIM:223340
Fetal Parvovirus Syndrome	Thrombocytopenia, Anemia	ORPHA:295
Chédiak-Higashi Syndrome	Tremor, Large clumps of pigment irregularly distributed along hair shaft, Vacuolated lymphocytes,...	ORPHA:167
Immunodeficiency 75 With Lymphoproliferation	Decreased proportion of class-switched memory B cells, Hepatosplenomegaly	OMIM:619126
B-Cell Expansion With Nfkb And T-Cell Anergy	Splenomegaly, Increased B cell count	OMIM:616452
Schimke Immunoosseous Dysplasia	Osteopenia, Pancytopenia, Abnormal T cell morphology, Anemia, Fine hair, Coarse hair, Neutropenia...	OMIM:242900
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked	Alopecia, Eosinophilia, Autoimmune thrombocytopenia, Anemia, Coombs-positive hemolytic anemia, Ne...	OMIM:304790
Pseudo-Torch Syndrome 3	Increased circulating ferritin concentration, Leukocytosis, Congenital thrombocytopenia, Anemia	OMIM:618886
Thrombotic Thrombocytopenic Purpura, Hereditary	Reticulocytosis, Tremor, Schistocytosis, Elevated circulating creatinine concentration, Microangi...	OMIM:274150
Hereditary Spherocytosis	Reticulocytosis, Spontaneous hemolytic crises, Extramedullary hematopoiesis, Ataxia, Splenomegaly...	ORPHA:822
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome	Thrombocytopenia, Reticulocytopenia, Leukopenia, B lymphocytopenia, Bone marrow hypocellularity, ...	ORPHA:508542
Mucopolysaccharidosis-Plus Syndrome	Splenomegaly, Synophrys, Low anterior hairline, Hirsutism, Low posterior hairline, Anemia, Leukop...	OMIM:617303
Hereditary Elliptocytosis	Hemolytic anemia, Reticulocytosis, Abnormal erythrocyte morphology, Splenomegaly, Stomatocytosis,...	ORPHA:288
Immunodeficiency 82 With Systemic Inflammation	Decreased proportion of naive T cells, Osteomalacia, Elevated circulating C-reactive protein conc...	OMIM:619381
Combined Immunodeficiency Due To Zap70 Deficiency	Autoimmune hemolytic anemia, Eosinophilia, Autoimmune thrombocytopenia, Absence of CD8-positive T...	ORPHA:911
Transaldolase Deficiency	Hepatosplenomegaly, Anemia, Abnormal circulating glutamine concentration, Increased serum bile ac...	ORPHA:101028
Aicardi-Goutieres Syndrome 4	Pancytopenia, Splenomegaly, Hepatosplenomegaly, Dystonia, Spasticity, Thrombocytopenia	OMIM:610333
Hypercholanemia, Familial, 2	Osteopenia, Increased serum bile acid concentration, Unconjugated hyperbilirubinemia	OMIM:619256
Immunodeficiency 23	Hemolytic anemia, Ataxia, Eosinophilia, Abscess, Myoclonus, Neutropenia, Lymphopenia, Cortical my...	OMIM:615816
Epidermodysplasia Verruciformis, Susceptibility To, 5	T lymphocytopenia, Lymphopenia	OMIM:618309
Ataxia-Telangiectasia	Hypopigmentation of hair, Ataxia, Tremor, Premature graying of hair, Spasticity, Lymphopenia	ORPHA:100
Neonatal Alloimmune Neutropenia	Neutropenia in presence of anti-neutropil antibodies	ORPHA:464370
Fraxf Syndrome	Folate-dependent fragile site at Xq28	ORPHA:100974
Gaucher Disease, Type Iii	Pancytopenia, Ataxia, Splenomegaly, Myoclonus, Spastic paraparesis, Thrombocytopenia	OMIM:231000
Systemic Lupus Erythematosus	Hemolytic anemia, Thrombocytopenia, Leukopenia	OMIM:152700
Platelet Signal Processing Defect	Impaired collagen-induced platelet aggregation, Impaired ADP-induced platelet aggregation, Thromb...	OMIM:173590
Cartilage-Hair Hypoplasia	Impaired lymphocyte transformation with phytohemagglutinin, Macrocytic anemia, Fair hair, Sparse ...	OMIM:250250
Cholestasis-Lymphedema Syndrome	Conjugated hyperbilirubinemia, Splenomegaly, Hyperlipidemia	OMIM:214900
Imerslund-Gräsbeck Syndrome	Reticulocytosis, Macrocytic anemia, Pancytopenia, Megaloblastic anemia, Anisopoikilocytosis, Abno...	ORPHA:35858
Sandhoff Disease, Adult Form	Elevated circulating creatine kinase concentration, Tremor, Focal dystonia, Gait ataxia, Fascicul...	ORPHA:309169
Autoimmune Lymphoproliferative Syndrome, Type Iii	Increased proportion autoreactive unresponsive CD21-/low B cells, Autoimmune hemolytic anemia, Al...	OMIM:615559
3-Methylglutaconic Aciduria Type 4	Spasticity, Thrombocytopenia	ORPHA:67048
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3	Elevated circulating creatinine concentration, Anemia, Microangiopathic hemolytic anemia, Increas...	OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2	Elevated circulating creatinine concentration, Anemia, Microangiopathic hemolytic anemia, Increas...	OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6	Elevated circulating creatinine concentration, Anemia, Microangiopathic hemolytic anemia, Increas...	OMIM:612926
Hemangioma-Thrombocytopenia Syndrome	Hyperkalemia, Microangiopathic hemolytic anemia, Thrombocytopenia	OMIM:141000
Pseudo-Von Willebrand Disease	Intermittent thrombocytopenia	OMIM:177820
3-Methylglutaconic Aciduria, Type Viia	Anisopoikilocytosis, Anemia, Neutropenia	OMIM:619835
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1	Acute myeloid leukemia, Increased mean corpuscular volume, Thrombocytopenia	OMIM:252270
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1	Reticulocytosis, Hyperlipidemia, Schistocytosis, Elevated circulating creatinine concentration, H...	OMIM:235400
Deafness-Lymphedema-Leukemia Syndrome	Abnormal neutrophil count, Splenomegaly, Leukocytosis, Acute leukemia, Myeloproliferative disorde...	ORPHA:3226
Autoinflammatory Disease, Systemic, X-Linked	Neutropenia, B lymphocytopenia, Hepatosplenomegaly	OMIM:301081
Cerebroretinal Microangiopathy With Calcifications And Cysts 2	Osteopenia, Pancytopenia, Dystonia, Ataxia, Premature graying of hair, Bone marrow hypocellularit...	OMIM:617341
Dengue Fever	Leukopenia, Hypoproteinemia, Thrombocytopenia	ORPHA:99828
Platelet Glycoprotein Iv Deficiency	Giant platelets, Thrombocytopenia	OMIM:608404
Dyskeratosis Congenita, Autosomal Dominant 1	Alopecia, Aplastic anemia, Ataxia, Osteoporosis, Anemia, Leukopenia, Premature graying of hair, I...	OMIM:127550
Thyrocerebroretinal Syndrome	Slurred speech, Ataxia, Myoclonus, Thrombocytopenia	OMIM:274240
Bleeding Disorder, Platelet-Type, 16	Giant platelets, Macrothrombocytopenia, Platelet anisocytosis, Anemia, Impaired platelet aggregat...	OMIM:187800
Agammaglobulinemia 9, Autosomal Recessive	Thrombocytopenia, Absent circulating B cells	OMIM:619693
Rh Deficiency Syndrome	Hemolytic anemia, Macrocytic anemia, Reticulocytosis, Anisocytosis, Spherocytosis, Hepatosplenome...	ORPHA:71275
Neonatal Lupus Erythematosus	Hemolytic anemia, Pancytopenia, Aplastic anemia, Splenomegaly, Anemia, Neutropenia, Thrombocytopenia	ORPHA:398124
Wt Limb-Blood Syndrome	Thrombocytopenia, Pancytopenia, Hypoplastic anemia, Leukemia	OMIM:194350
Immunodeficiency 40	T lymphocytopenia, Eosinophilic granuloma, Thrombocytopenia	OMIM:616433
Methylmalonic Acidemia With Homocystinuria Type Cblf	Hypomethioninemia, Megaloblastic anemia, Elevated circulating palmitoleylcarnitine concentration,...	ORPHA:79284
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis	Hyponatremia, Leukocytosis, Thrombocytopenia, Paralysis	ORPHA:83601
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5	Elevated circulating creatinine concentration, Anemia, Microangiopathic hemolytic anemia, Increas...	OMIM:612925
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4	Elevated circulating creatinine concentration, Anemia, Microangiopathic hemolytic anemia, Increas...	OMIM:612924
Cohen Syndrome	Leukopenia, Thick eyebrow, Neutropenia	OMIM:216550
Letterer-Siwe Disease	Thrombocytopenia, Neutropenia, Anemia, Hepatosplenomegaly	OMIM:246400
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 6	Pancytopenia, Premature graying of hair, Bone marrow hypocellularity, Nail dystrophy, Abnormally ...	OMIM:619767
Congenital Disorder Of Glycosylation, Type Ih	Thrombocytopenia, Elevated circulating creatinine concentration, Hypoalbuminemia, Anemia	OMIM:608104
Overhydrated Hereditary Stomatocytosis	Hemolytic anemia, Reticulocytosis, Splenomegaly, Stomatocytosis, Increased mean corpuscular volum...	OMIM:185000
Intermediate Osteopetrosis	Cortical sclerosis, Generalized osteosclerosis, Hepatosplenomegaly, Anemia, Hypocalcemia, Abnorma...	ORPHA:210110
Rhabdoid Tumor	Cerebral palsy, Hypercalcemia, Anemia, Hemiplegia, Thrombocytopenia	ORPHA:69077
Immunodeficiency 17	Decreased proportion of CD8-positive T cells, Autoimmune hemolytic anemia, Abnormal B cell morpho...	OMIM:615607
Congenital Bile Acid Synthesis Defect Type 2	Extramedullary hematopoiesis, Conjugated hyperbilirubinemia, Rickets, Hyperbilirubinemia, Abnorma...	ORPHA:79303
Sea-Blue Histiocytosis	Splenomegaly, Thrombocytopenia, Sea-blue histiocytosis	ORPHA:158029
Immunodeficiency 81	Decreased proportion of CD4-positive T cells, Recurrent cutaneous abscess formation, Autoimmune h...	OMIM:619374
Immunodeficiency 64 With Lymphoproliferation	Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of CD4-pos...	OMIM:618534
Spondyloenchondrodysplasia With Immune Dysregulation	Autoimmune thrombocytopenia, Spastic diplegia, T lymphocytopenia, Sclerosis of skull base, Progre...	OMIM:607944
Overlap Myositis	Elevated circulating creatine kinase concentration, Leukopenia, Tetraparesis, Abnormal circulatin...	ORPHA:206572
Mitochondrial Dna Depletion Syndrome 13 (Encephalomyopathic Type)	Dystonia, Ataxia, Hyperammonemia, Choreoathetosis, Neutropenia, Hyperalaninemia, Thick eyebrow	OMIM:615471
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency	Decreased HDL cholesterol concentration, Hypoalbuminemia, Hyperthreoninemia, Abnormal circulating...	ORPHA:247598
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome	Head titubation, Increased circulating ferritin concentration, Vestibular areflexia, Spastic tetr...	ORPHA:3240
Fanconi Anemia, Complementation Group T	Acute myeloid leukemia, Pancytopenia, Thrombocytopenia, Bone marrow hypocellularity, Anemia	OMIM:616435
Immunodeficiency 92	Leukocytosis, Decreased proportion of class-switched memory B cells, B lymphocytopenia, Lymphocyt...	OMIM:619652
Psoriasis 14, Pustular	Leukocytosis, Neutrophilia, Nail dystrophy, Elevated circulating C-reactive protein concentration	OMIM:614204
Cystic Echinococcosis	Eosinophilia, Abscess, Bone cyst, Hyperbilirubinemia, Splenic cyst, Peritoneal abscess	ORPHA:400
Wilson Disease	Decreased circulating ceruloplasmin concentration, Tremor, Hand tremor, Aminoaciduria, Hypoalbumi...	OMIM:277900
Non-Involuting Congenital Hemangioma	Thrombocytopenia	ORPHA:141179
Edinburgh Malformation Syndrome	Frontal hirsutism, Neonatal hyperbilirubinemia	OMIM:129850
Congenital Disorder Of Glycosylation, Type Iic	Widow's peak, Neutrophilia, Reduction of neutrophil motility	OMIM:266265
Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome	Alopecia, Ataxia, Long eyelashes, Sparse hair, Neonatal hyperbilirubinemia	ORPHA:3363
Moyamoya Disease With Early-Onset Achalasia	Abnormal platelet aggregation, Thrombocytopenia	ORPHA:401945
Bleeding Disorder, Platelet-Type, 20	Thrombocytopenia	OMIM:616913
Von Willebrand Disease, Type 2	Thrombocytopenia	OMIM:613554
Shiga Toxin-Associated Hemolytic Uremic Syndrome	Hyponatremia, Reticulocytosis, Leukocytosis, Schistocytosis, Elevated circulating creatinine conc...	ORPHA:90038
Avian Influenza	Elevated circulating creatine kinase concentration, Elevated circulating C-reactive protein conce...	ORPHA:454836
Giant platelet syndrome with thrombocytopenia	Giant platelets, Thrombocytopenia	OMIM:137560
Transcobalamin Ii Deficiency	Macrocytic anemia, Pancytopenia, Ataxia, Erythroid hypoplasia, Reticulocytopenia, Neutropenia	OMIM:275350
Diffuse Neonatal Hemangiomatosis	Thrombocytopenia, Hypercalcemia, Anemia	ORPHA:2123
Bleeding Disorder, Platelet-Type, 24	Increased mean platelet volume, Thrombocytopenia, Impaired ADP-induced platelet aggregation, Plat...	OMIM:619271
Gamma-Heavy Chain Disease	Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Thrombocytopenia, Osteoly...	ORPHA:100026
Crigler-Najjar Syndrome Type 2	Neonatal hyperbilirubinemia, Unconjugated hyperbilirubinemia	ORPHA:79235
Drug-Induced Autoimmune Hemolytic Anemia	Splenomegaly, Autoimmune hemolytic anemia, Increased total bilirubin	ORPHA:90037
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis	Hemolytic anemia, Reticulocytosis, Dystonia, Anisocytosis, Leukocytosis, Tetraplegia, Hepatosplen...	OMIM:618278
Elliptocytosis 2	Hemolytic anemia, Elliptocytosis, Neonatal hyperbilirubinemia, Reticulocytosis	OMIM:130600
Barth Syndrome	Cyclic neutropenia, Hypochromic microcytic anemia, Granulocytopenia, Neutropenia, Fair hair	OMIM:302060
Reynolds Syndrome	Calcinosis, Splenomegaly, Lymphopenia, Hyperbilirubinemia	OMIM:613471
Aicardi-Goutieres Syndrome 5	Spasticity, Thrombocytopenia	OMIM:612952
Caroli Syndrome	Liver abscess, Hypersplenism, Conjugated hyperbilirubinemia, Leukocytosis, Leukopenia, Hyperbilir...	ORPHA:480520
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Autoimmune hemolytic anemia, Alopecia, Autoimmune thrombocytopenia, Splenomegaly, Hypomagnesemia,...	ORPHA:37042
Diamond-Blackfan Anemia 11	Bone marrow hypocellularity, Anemia of inadequate production, Neutropenia	OMIM:614900
Hoyeraal-Hreidarsson Syndrome	Abnormal leukocyte morphology, Sparse scalp hair, Ataxia, Premature graying of hair, Anemia, Hype...	ORPHA:3322
Shwachman-Diamond Syndrome	Normocytic anemia, Acute myeloid leukemia, Macrocytic anemia, Transient neutropenia, Aplastic ane...	ORPHA:811
Drug-Induced Lupus Erythematosus	Elevated circulating creatine kinase concentration, Elevated circulating C-reactive protein conce...	ORPHA:231111
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency	Osteopenia, Increased T cell count, Nail dystrophy, Increased B cell count, Sparse hair	ORPHA:98813
Cog4-Cdg	Ataxia, Thick hair, Hepatosplenomegaly, Hypercholesterolemia, Thrombocytopenia, Limb hypertonia	ORPHA:263501
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)	Elevated circulating alpha-fetoprotein concentration, Splenomegaly, Generalized aminoaciduria, Hy...	OMIM:251880
Cholestasis, Progressive Familial Intrahepatic, 11	Abnormal circulating bilirubin concentration, Increased serum bile acid concentration	OMIM:619874
Tularemia	Brain abscess, Leukocytosis, Anemia, Thrombocytopenia, Cutaneous abscess	ORPHA:3392
Rapidly Involuting Congenital Hemangioma	Thrombocytopenia	ORPHA:141184
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation	Aplasia of the thymus, Eosinophilia, Splenomegaly, Alopecia of scalp, B lymphocytopenia, Abnormal...	OMIM:602450
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency	Decreased proportion of memory B cells, B lymphocytopenia	ORPHA:70593
Herpes Simplex Virus Encephalitis	Hyponatremia, Leukocytosis, Neutrophilia, Elevated circulating C-reactive protein concentration	ORPHA:1930
Beta-Thalassemia	Abnormal hemoglobin, Microcytic anemia, Splenomegaly, Reduced bone mineral density, Anemia, Abnor...	ORPHA:848
Sepsis In Premature Infants	Elevated circulating C-reactive protein concentration, Splenomegaly, Leukocytosis, Anemia, Neutro...	ORPHA:90051
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis	Abnormally low T cell receptor excision circle level, Macrocytic anemia, Neutrophilia, Leukocytos...	OMIM:608203
Autosomal Agammaglobulinemia	Neutropenia	ORPHA:33110
Autoinflammation, Panniculitis, And Dermatosis Syndrome	Neutrophilia, Leukocytosis, Increased proportion of CD4-positive T cells, Elevated circulating C-...	OMIM:617099
Rotor Syndrome	Conjugated hyperbilirubinemia, Hyperbilirubinemia	ORPHA:3111
Lipoyltransferase 1 Deficiency	Spastic tetraparesis, Hyperglutaminemia, Hyperprolinemia, Alaninuria, Abnormality of extrapyramid...	OMIM:616299
Immunodeficiency 67	Liver abscess, Transient neutropenia	OMIM:607676
Mixed-Type Autoimmune Hemolytic Anemia	Autoimmune hemolytic anemia, Increased total bilirubin	ORPHA:90036
Immunodeficiency 49	Impaired lymphocyte transformation with phytohemagglutinin, Eosinophilia, Spastic tetraplegia, T ...	OMIM:617237
Chronic Bilirubin Encephalopathy	Hemolytic anemia, Cerebral palsy, Hypertonia, Hypoalbuminemia, Hypernatremia, Neonatal hyperbilir...	ORPHA:529808
Acute Bilirubin Encephalopathy	Hemolytic anemia, Cerebral palsy, Hypertonia, Hypoalbuminemia, Hypernatremia, Neonatal hyperbilir...	ORPHA:529799
Activated Pi3K-Delta Syndrome	Splenomegaly, B lymphocytopenia	ORPHA:397596
Glycogen Storage Disease Xii	Normocytic anemia, Elevated circulating creatine kinase concentration, Splenomegaly, Low posterio...	OMIM:611881
Dyskeratosis Congenita, Autosomal Dominant 3	Pancytopenia, Alopecia, Aplastic anemia, Ataxia, Osteoporosis, Fine hair, Premature graying of ha...	OMIM:613990
Mirage Syndrome	Hyponatremia, Radial club hand, Hyperkalemia, Paraplegia, Anemia, Leukopenia, Hypoplastic spleen,...	OMIM:617053
Ataxia-Telangiectasia	Ataxia, Elevated circulating alpha-fetoprotein concentration, Abnormal hair morphology, Tremor, S...	OMIM:208900
Pearson Marrow-Pancreas Syndrome	Sideroblastic anemia, Pancytopenia, Thrombocytopenia, Reticulocytopenia, Hyperbilirubinemia, Neut...	OMIM:557000
Proteasome-Associated Autoinflammatory Syndrome 3	Hypertriglyceridemia, Splenomegaly, Anemia, Lymphopenia, Thrombocytopenia	OMIM:617591
Cryptogenic Organizing Pneumonia	Leukocytosis, Neutrophilia, Elevated circulating C-reactive protein concentration	ORPHA:1302
Acute Panmyelosis With Myelofibrosis	Acute myeloid leukemia, Myelofibrosis, Pancytopenia, Splenomegaly, Acute myelomonocytic leukemia,...	ORPHA:86843
Congenital Erythropoietic Porphyria	Facial hypertrichosis, Hemolytic anemia, Reticulocytosis, Osteopenia, Anisocytosis, Splenomegaly,...	ORPHA:79277
Osteopetrosis, Autosomal Recessive 8	Splenomegaly, Thrombocytopenia, Osteopetrosis, Anemia	OMIM:615085
Primary Myelofibrosis	Pancytopenia, Extramedullary hematopoiesis, Thrombocytopenia, Leukocytosis, Splenomegaly, Hepatos...	ORPHA:824
Lysinuric Protein Intolerance	Hypolysinemia, Splenomegaly, Increased circulating ferritin concentration, Osteoporosis, Intraalv...	OMIM:222700
Graft Versus Host Disease	Hemophagocytosis, Hyperbilirubinemia, Hepatosplenomegaly	ORPHA:39812
Immunodeficiency, Common Variable, 8, With Autoimmunity	Pancytopenia, Autoimmune hemolytic anemia, Chronic neutropenia, Autoimmune thrombocytopenia, Sple...	OMIM:614700
Acute Radiation Syndrome	Lymphopenia, Granulocytopenia, Thrombocytopenia	ORPHA:454831
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2	B lymphocytopenia	OMIM:614069
Thrombocytopenia With Beta-Thalassemia, X-Linked	Hemolytic anemia, Reticulocytosis, Increased RBC distribution width, Reduced platelet alpha granu...	OMIM:314050
Hermansky-Pudlak Syndrome 10	Albinism, Splenomegaly, Dystonia, Neutropenia	OMIM:617050
Holocarboxylase Synthetase Deficiency	Hyperammonemia, Alopecia, Ataxia, Thrombocytopenia	ORPHA:79242
Pulmonary Fibrosis-Hepatic Hyperplasia-Bone Marrow Hypoplasia Syndrome	Increased circulating ferritin concentration, Bone marrow hypocellularity, Thrombocytopenia, Hepa...	ORPHA:210136
Osteopetrosis, Autosomal Recessive 4	Reticulocytosis, Increased bone mineral density, Splenomegaly, Thrombocytopenia, Osteopetrosis, A...	OMIM:611490
Severe Combined Immunodeficiency, X-Linked	Impaired lymphocyte transformation with phytohemagglutinin, T lymphocytopenia, Hypoplasia of the ...	OMIM:300400
Cerebral Creatine Deficiency Syndrome 2	Lower limb spasticity, Ataxia, Tremor, Rigidity, Paraparesis, Hypertonia, Myoclonus, Decreased se...	OMIM:612736
Thrombocytopenia 4	Abnormal platelet volume, Thrombocytopenia	OMIM:612004
Agammaglobulinemia 1, Autosomal Recessive	B lymphocytopenia, Rectal abscess, Neutropenia	OMIM:601495
Bleeding Disorder, Platelet-Type, 15	Thrombocytopenia, Platelet anisocytosis, Increased mean platelet volume	OMIM:615193
Diamond-Blackfan Anemia 7	Osteopenia, Macrocytic anemia, Osteoporosis, Increased mean corpuscular volume, Neutropenia	OMIM:612562
Bone Marrow Failure Syndrome 3	Acute myeloid leukemia, Pancytopenia, Aplastic anemia, Thrombocytopenia, Reduced bone mineral den...	OMIM:617052
Thrombocytopenia With Elevated Serum Iga And Renal Disease	Thrombocytopenia	OMIM:314000
Moyamoya Disease 6 With Or Without Achalasia	Hemiparesis, Thrombocytopenia	OMIM:615750
Stuve-Wiedemann Syndrome 2	Thrombocytopenia	OMIM:619751
Bernard-Soulier Syndrome	Impaired ristocetin-induced platelet aggregation, Giant platelets, Macrothrombocytopenia, Thrombo...	OMIM:231200
Evans Syndrome	Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil antibodies, Autoimmune thr...	ORPHA:1959
Acute Generalized Exanthematous Pustulosis	Leukocytosis, Neutrophilia, Eosinophilia, Neutropenia	ORPHA:293173
Mevalonic Aciduria	Normocytic hypoplastic anemia, Ataxia, Elevated circulating creatine kinase concentration, Elevat...	OMIM:610377
Hyperbilirubinemia, Rotor Type	Conjugated hyperbilirubinemia	OMIM:237450
Shwachman-Diamond Syndrome 1	Acute myeloid leukemia, Pancytopenia, Persistence of hemoglobin F, Anemia, Irregular ossification...	OMIM:260400
Kasabach-Merritt Syndrome	Reticulocytosis, Thrombocytopenia, Leukopenia, Microangiopathic hemolytic anemia, Neutropenia, An...	ORPHA:2330
Cholesteryl Ester Storage Disease	Decreased HDL cholesterol concentration, Hypertriglyceridemia, Bone-marrow foam cells, Hypersplen...	OMIM:278000
Jaundice, Familial Obstructive, Of Infancy	Neonatal hyperbilirubinemia	OMIM:308600
Hyperbilirubinemia, Conjugated, Type Iii	Conjugated hyperbilirubinemia	OMIM:237550
Hyperbilirubinemia, Transient Familial Neonatal	Neonatal unconjugated hyperbilirubinemia	OMIM:237900
Crigler-Najjar Syndrome, Type Ii	Unconjugated hyperbilirubinemia	OMIM:606785
Cholestasis, Progressive Familial Intrahepatic, 1	Conjugated hyperbilirubinemia, Splenomegaly, Rickets, Osteopenia	OMIM:211600
Thiamine-Responsive Megaloblastic Anemia Syndrome	Sideroblastic anemia, Ataxia, Thiamine-responsive megaloblastic anemia, Aminoaciduria, Thrombocyt...	OMIM:249270
Corticosteroid-Sensitive Aseptic Abscess Syndrome	Brain abscess, Neutrophilia, Liver abscess, Elevated circulating C-reactive protein concentration...	ORPHA:54251
Vici Syndrome	Hypopigmentation of hair, Elevated circulating creatine kinase concentration, Albinism, Leukopeni...	OMIM:242840
Boutonneuse Fever	Leukopenia, Thrombocytopenia	ORPHA:83313
Dubin-Johnson Syndrome	Conjugated hyperbilirubinemia	OMIM:237500
Subacute Inflammatory Demyelinating Polyneuropathy	Tremor, Leukocytosis, Frequent falls, Choreoathetosis	ORPHA:206594
Thrombocytopenia, Paris-Trousseau Type	Thrombocytopenia	OMIM:188025
Leigh Syndrome	Alopecia, Dystonia, Ataxia, Involuntary movements, Chorea, Upper motor neuron dysfunction, Spasti...	ORPHA:506
Sézary Syndrome	Alopecia, Tremor, Splenomegaly, Nail dystrophy, Abnormal lymphocyte morphology	ORPHA:3162
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures	Ataxia, Tremor, Spastic tetraplegia, Dysmetria, Athetosis, Hypertonia, Dystonia, Thrombocytopenia...	OMIM:617710
Crigler-Najjar Syndrome, Type I	Unconjugated hyperbilirubinemia	OMIM:218800
Osteopetrosis, Autosomal Recessive 2	Pancytopenia, Extramedullary hematopoiesis, Cranial hyperostosis, Diaphyseal sclerosis, Hepatospl...	OMIM:259710
Bile Acid Synthesis Defect, Congenital, 2	Splenomegaly, Hyperbilirubinemia	OMIM:235555
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency	Pancytopenia, Ataxia, Megaloblastic anemia, Eyelid myoclonus, Increased mean corpuscular volume, ...	OMIM:613839
Kikuchi-Fujimoto Disease	Alopecia, Ataxia, Elevated circulating C-reactive protein concentration, Splenomegaly, Anemia, Le...	ORPHA:50918
Ebola Hemorrhagic Fever	Leukopenia, Lymphopenia, Thrombocytopenia	ORPHA:319218
Congenital Toxoplasmosis	Thrombocytopenia, Anemia	ORPHA:858
Abetalipoproteinemia	Osteopenia, Reticulocytosis, Decreased HDL cholesterol concentration, Ataxia, Acanthocytosis, Upp...	ORPHA:14
Arthrogryposis, Renal Dysfunction, And Cholestasis 1	Conjugated hyperbilirubinemia, Aminoaciduria, Thrombocytopenia	OMIM:208085
Whim Syndrome	Abnormal neutrophil morphology, Limb ataxia, Poor fine motor coordination, Neutropenia, Lymphopenia	ORPHA:51636
Osteopetrosis, Autosomal Recessive 1	Pancytopenia, Increased bone mineral density, Craniosynostosis, Splenomegaly, Anemia, Hypocalcemi...	OMIM:259700
Rh-Null, Regulator Type	Hemolytic anemia, Stomatocytosis, Unconjugated hyperbilirubinemia	OMIM:268150
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia	Thrombocytopenia, Elevated circulating C-reactive protein concentration, Lymphocytosis, Decreased...	OMIM:617718
Bacterial Toxic-Shock Syndrome	Elevated circulating creatine kinase concentration, Abscess, Elevated circulating creatinine conc...	ORPHA:36234
Congenital Disorder Of Glycosylation With Defective Fucosylation 1	Osteopenia, Hirsutism, Neutropenia	OMIM:618005
Yellow Fever	Neutrophilia, Elevated circulating creatine kinase concentration, Leukocytosis, Elevated circulat...	ORPHA:99829
Sitosterolemia 1	Reticulocytosis, Hyperapobetalipoproteinemia, Thrombocytopenia, Splenomegaly, Giant platelets, El...	OMIM:210250
Adult-Onset Still Disease	Neutrophilia, Elevated circulating C-reactive protein concentration, Splenomegaly, Leukocytosis, ...	ORPHA:829
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity	Hemolytic anemia, Autoimmune hemolytic anemia, Decreased proportion of CD4+CD25+ regulatory T cel...	OMIM:606367
Immunodeficiency With Hyper-Igm, Type 1	Hemolytic anemia, Splenomegaly, Ankle clonus, Neutropenia, Thrombocytopenia	OMIM:308230
Paroxysmal Nocturnal Hemoglobinuria	Hemolytic anemia, Reticulocytosis, Pancytopenia, Decreased serum iron, Abnormal erythrocyte enzym...	ORPHA:447
Caroli Disease	Liver abscess, Conjugated hyperbilirubinemia, Splenomegaly, Leukocytosis, Abnormal circulating al...	ORPHA:53035
Neurodevelopmental Disorder With Hearing Loss, Seizures, And Brain Abnormalities	Spasticity, Hypertonia, Thrombocytopenia	OMIM:616577
Myh9-Related Disease	Giant platelets, Neutrophil inclusion bodies, Congenital thrombocytopenia, Increased mean platele...	ORPHA:182050
Combined Oxidative Phosphorylation Deficiency 18	Tremor, Macrocytic anemia, Hypersegmentation of neutrophil nuclei, Dysmetria	OMIM:615578
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency	Decreased proportion of marginal zone B cells, Autoimmune thrombocytopenia, Splenomegaly, Decreas...	OMIM:619375
Tufted Angioma	Anemia, Thrombocytopenia, Hypertrichosis	ORPHA:1063
Systemic Mastocytosis With Associated Hematologic Neoplasm	Normocytic anemia, Acute myeloid leukemia, Neutrophilia, Eosinophilia, Splenomegaly, Leukocytosis...	ORPHA:98849
Sengers Syndrome	Osteopenia, Thrombocytopenia	OMIM:212350
Immunodeficiency 22	Decreased proportion of CD4-positive helper T cells, Thrombocytopenia, Abscess, Anemia	OMIM:615758
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects	Hemolytic anemia, Ataxia, Conjugated hyperbilirubinemia, Splenomegaly, Hyperkalemia, Stomatocytos...	OMIM:608885
T-Cell Immunodeficiency With Thymic Aplasia	Aplasia of the thymus, Hepatosplenomegaly, T lymphocytopenia, Abnormally low T cell receptor exci...	OMIM:242700
Acute Monoblastic/Monocytic Leukemia	Acute monocytic leukemia, Leukocytosis, Lymphocytosis, Hypochromic anemia, Anemia	ORPHA:514
Fanconi Anemia, Complementation Group E	Pancytopenia, Reticulocytopenia, Anemia, Neutropenia, Leukemia, Thrombocytopenia	OMIM:600901
Glycogen Storage Disease Ib	Splenomegaly, Hyperlipidemia, Osteoporosis, Hyperuricemia, Neutropenia	OMIM:232220
Fusariosis	Brain abscess, Lung abscess, Abnormality of the spleen, Granuloma, Neutropenia, Lymphopenia	ORPHA:228119
Gaucher Disease Type 1	Osteopenia, Pancytopenia, Increased bone mineral density, Hypersplenism, Splenomegaly, Osteolysis...	ORPHA:77259
Bare Lymphocyte Syndrome, Type Ii	Neutropenia	OMIM:209920
Hydrops, Lactic Acidosis, And Sideroblastic Anemia	Sideroblastic anemia, Extramedullary hematopoiesis, Anemia, Increased mean corpuscular volume, Hy...	OMIM:617021
Aspergillosis	Eosinophilia, Neutropenia	ORPHA:1163
Thiamine-Responsive Megaloblastic Anemia Syndrome	Thrombocytopenia, Megaloblastic anemia	ORPHA:49827
Bleeding Disorder, Platelet-Type, 21	Alopecia, Increased mean platelet volume, Impaired ADP-induced platelet aggregation, Impaired pla...	OMIM:617443
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay	Sideroblastic anemia, Brittle hair, Ataxia, Splenomegaly, Schistocytosis, Hypochromic microcytic ...	OMIM:616084
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
Fanconi Anemia, Complementation Group I	Bone marrow hypocellularity, Neutropenia	OMIM:609053
Agammaglobulinemia, X-Linked	T lymphocytopenia, B lymphocytopenia, Anemia, Neutropenia	OMIM:300755
Staphylococcal Necrotizing Pneumonia	Leukopenia, Leukocytosis, Neutrophilia, Elevated circulating C-reactive protein concentration	ORPHA:36238
Fanconi Anemia, Complementation Group A	Pancytopenia, Reticulocytopenia, Anemia, Neutropenia, Leukemia, Thrombocytopenia	OMIM:227650
Pediatric Systemic Lupus Erythematosus	Alopecia, Leukopenia, Microangiopathic hemolytic anemia, Hemiplegia, Lymphopenia, Thrombocytopenia	ORPHA:93552
Immunodeficiency, Common Variable, 12, With Autoimmunity	Alopecia, Autoimmune hemolytic anemia, Thrombocytopenia	OMIM:616576
Snakebite Envenomation	Hyponatremia, Paralysis, Pseudobulbar paralysis, Respiratory paralysis, Thrombocytopenia	ORPHA:449285
Acquired Purpura Fulminans	Elevated circulating C-reactive protein concentration, Thrombocytopenia	ORPHA:49566
Refractory Celiac Disease	Normocytic anemia, Macrocytic anemia, Microcytic anemia, Increased proportion of HLA DR+ T cells,...	ORPHA:398063
Khan-Khan-Katsanis Syndrome	Highly arched eyebrow, Trichiasis, Hypertonia, Neutropenia, Lymphopenia, Anemia	OMIM:618460
Braddock-Carey Syndrome 2	Thrombocytopenia	OMIM:619981
Bile Acid Synthesis Defect, Congenital, 1	Conjugated hyperbilirubinemia, Splenomegaly, Rickets, Hypocholesterolemia	OMIM:607765
Methylmalonic Acidemia With Homocystinuria, Type Cblc	Methylmalonic acidemia, Hypomethioninemia, Ataxia, Megaloblastic anemia, Hyperammonemia, Hyperhom...	ORPHA:79282
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome	Osteolysis involving bones of the upper limbs, Osteolysis, Osteolysis involving bones of the lowe...	ORPHA:464321
Fetal Gaucher Disease	Pancytopenia, Splenomegaly, Abnormality of the spleen, Hypertonia, Thrombocytopenia	ORPHA:85212
Dyskeratosis Congenita, Autosomal Recessive 2	Nail dystrophy, Pancytopenia, Bone marrow hypocellularity, Thrombocytopenia	OMIM:613987
Wiskott-Aldrich Syndrome	Hemolytic anemia, Abnormal eosinophil morphology, Microcytic anemia, Thrombocytopenia, Chronic le...	ORPHA:906
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure	Postural tremor, Action tremor, Gait ataxia, Normochromic anemia, Hypoalbuminemia, Myoclonus, Thr...	OMIM:254900
Rothmund-Thomson Syndrome	Calcinosis, Osteopenia, Abnormal trabecular bone morphology, Aplastic anemia, Sparse eyelashes, A...	ORPHA:2909
Cholestasis, Progressive Familial Intrahepatic, 2	Conjugated hyperbilirubinemia, Splenomegaly	OMIM:601847
Shwachman-Diamond Syndrome 2	Normocytic anemia, Thrombocytopenia, Neutropenia	OMIM:617941
Thrombocytopenia, Anemia, And Myelofibrosis	Myelofibrosis, Splenomegaly, Thrombocytopenia, Anisopoikilocytosis, Anemia	OMIM:617441
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked	Elevated circulating creatine kinase concentration, Craniosynostosis, Thrombocytopenia, Leukopeni...	OMIM:301056
Congenital Bile Acid Synthesis Defect Type 3	Hyperbilirubinemia, Hepatosplenomegaly	ORPHA:79302
Neuroleptic Malignant Syndrome	Hyponatremia, Extrapyramidal muscular rigidity, Elevated circulating creatine kinase concentratio...	ORPHA:94093
Stt3B-Cdg	Thrombocytopenia	ORPHA:370924
Immunodeficiency 25	T lymphocytopenia, Autoimmune hemolytic anemia, Eosinophilia	OMIM:610163
Saccharopinuria	Citrullinuria, Tremor, Hypercystinemia, Hyperammonemia, Spastic diplegia, Gait ataxia, Cystinuria...	ORPHA:3124
Hijazi-Reis Syndrome	Ankle clonus, Lower limb spasticity, Hyperbilirubinemia	OMIM:301094
O'Sullivan-Mcleod Syndrome	Tremor, Eosinophilia, Fasciculations	ORPHA:99965
Congenital Disorder Of Glycosylation, Type Ix	Thrombocytopenia	OMIM:615597
Congenital Rubella Syndrome	Splenomegaly, Thrombocytopenia, Spastic diplegia, Anemia	ORPHA:290
Renal Failure, Progressive, With Hypertension	Elevated circulating creatinine concentration	OMIM:161900
Trichothiodystrophy	Osteopenia, Sparse scalp hair, Increased bone mineral density, Brittle hair, Craniosynostosis, In...	ORPHA:33364
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome	Hyponatremia, Alopecia, Severe B lymphocytopenia, Alopecia totalis, Autoimmune thrombocytopenia, ...	ORPHA:293978
Fanconi Anemia, Complementation Group C	Pancytopenia, Reticulocytopenia, Anemia, Bone marrow hypocellularity, Neutropenia, Leukemia, Thro...	OMIM:227645
Platelet Disorder, Familial, With Associated Myeloid Malignancy	Acute myeloid leukemia, Acute monocytic leukemia, Impaired platelet aggregation, Abnormal dense g...	OMIM:601399
Macrothrombocytopenia, Isolated, 1, Autosomal Dominant	Impaired platelet aggregation, Macrothrombocytopenia	OMIM:613112
Stormorken Syndrome	Howell-Jolly bodies, Elevated circulating creatine kinase concentration, Asplenia, Anemia, Hypopl...	OMIM:185070
Acute Interstitial Pneumonia	Elevated circulating creatinine concentration, Reduced hematocrit, Elevated circulating C-reactiv...	ORPHA:79126
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis	Osteopenia, Neutrophilia, Abscess, Elevated circulating C-reactive protein concentration, Splenom...	OMIM:612852
Lysinuric Protein Intolerance	Osteopenia, Decreased HDL cholesterol concentration, Leukopenia, Abnormal circulating serine conc...	ORPHA:470
Lujo Hemorrhagic Fever	Resting tremor, Elevated circulating C-reactive protein concentration, Leukocytosis, Leukopenia, ...	ORPHA:319213
Thrombocytopenia With Congenital Dyserythropoietic Anemia	Anisocytosis, Anemia of inadequate production, Macrothrombocytopenia, Poikilocytosis, Hypochromic...	ORPHA:67044
X-Linked Intellectual Disability, Nascimento Type	Recurrent cutaneous abscess formation, Lumbar hypertrichosis, Neonatal hyperbilirubinemia, Abnorm...	ORPHA:163956
Acyl-Coa Dehydrogenase 9 Deficiency	Elevated circulating acylcarnitine concentration, Hyperammonemia, Decreased circulating carnitine...	ORPHA:99901
Tick-Borne Encephalitis	Speech apraxia, Incoordination, Elevated circulating C-reactive protein concentration, Paralysis,...	ORPHA:297
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome	Osteopenia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Neutropenia in presence of ...	ORPHA:391487
Marburg Hemorrhagic Fever	Lymphopenia, Reticulocytosis, Elevated circulating creatine kinase concentration, Hyperamylasemia...	ORPHA:99826
Isolated Polycystic Liver Disease	Increased total bilirubin	ORPHA:2924
Holocarboxylase Synthetase Deficiency	Hyperammonemia, Alopecia, Hypertonia, Thrombocytopenia	OMIM:253270
Hereditary Cryohydrocytosis With Reduced Stomatin	Spontaneous hemolytic crises, Ataxia, Conjugated hyperbilirubinemia, Spastic paraplegia, Hepatosp...	ORPHA:168577
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked	Thrombocytopenia, Spastic diplegia, Increased mean platelet volume	OMIM:300048
Intellectual Developmental Disorder, Autosomal Dominant 54	Lower limb spasticity, Ataxia, Vocal cord paralysis, Hyperkinetic movements, Neutropenia, Sparse ...	OMIM:617799
Autoimmune Disease, Multisystem, Infantile-Onset, 1	Hepatosplenomegaly, Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil antibo...	OMIM:615952
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia	Decreased serum creatinine, Hypohomocysteinemia, Tremor, Hypocystinemia	OMIM:617744
Rothmund-Thomson Syndrome Type 1	Calcinosis, Osteopenia, Abnormal trabecular bone morphology, Aplastic anemia, Alopecia totalis, S...	ORPHA:221008
Aceruloplasminemia	Refractory anemia, Torticollis, Decreased circulating ceruloplasmin concentration, Decreased circ...	ORPHA:48818
Saul-Wilson Syndrome	Neutropenia	OMIM:618150
Platelet Disorder, Undefined	Impaired platelet aggregation, Thrombocytopenia	OMIM:173420
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome	Tremor, Clumsiness, Eyelid myoclonus, Hepatosplenomegaly, Myoclonus, Limb myoclonus, Frequent falls	ORPHA:2590
Combined Oxidative Phosphorylation Deficiency 14	Anemia, Aminoaciduria, Myoclonus, Elevated hepatic iron concentration, Thrombocytopenia	OMIM:614946
Cerebroretinal Microangiopathy With Calcifications And Cysts 1	Osteopenia, Ataxia, Tremor, Osteoporosis, Abnormal pyramidal sign, Fine hair, Premature graying o...	OMIM:612199
Primary Intestinal Lymphangiectasia	Hypoproteinemia, Hypoalbuminemia, Hypocalcemia, Hypomagnesemia, Decreased proportion of CD3-posit...	ORPHA:90362
Ivic Syndrome	Leukocytosis, Thrombocytopenia	ORPHA:2307
Pediatric-Onset Graves Disease	Craniosynostosis, Tremor, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, Hyp...	ORPHA:525731
Mitochondrial Complex Iii Deficiency, Nuclear Type 10	Normochromic anemia, Elevated circulating creatine kinase concentration, Alopecia totalis, Thromb...	OMIM:618775
Polycystic Liver Disease 1 With Or Without Kidney Cysts	Increased total bilirubin	OMIM:174050
Gray Platelet Syndrome	Myelofibrosis, Impaired thrombin-induced platelet aggregation, Abnormal number of alpha granules,...	OMIM:139090
Hepatic Veno-Occlusive Disease	Increased total bilirubin	ORPHA:890
Thrombocytopenia 6	Myelofibrosis, Osteoporosis, Thrombocytopenia	OMIM:616937
Fumarase Deficiency	Aminoaciduria, Polycythemia, Hyperbilirubinemia	OMIM:606812
Diamond-Blackfan Anemia	Acute myeloid leukemia, Pure red cell aplasia, Erythroid hypoplasia, Low anterior hairline, Retic...	ORPHA:124
Selective Igm Deficiency	Decreased proportion of CD4-positive T cells, Autoimmune thrombocytopenia, Decreased proportion o...	ORPHA:331235
Hereditary Folate Malabsorption	Pancytopenia, Eosinophilia, Thrombocytopenia, Megaloblastic anemia	ORPHA:90045
Wolfram Syndrome 1	Sideroblastic anemia, Ataxia, Megaloblastic anemia, Tremor, Thrombocytopenia	OMIM:222300
Adams-Oliver Syndrome	Alopecia, Hemiparesis, Leukopenia, Hypertonia, Sparse hair, Thrombocytopenia	ORPHA:974
Vexas Syndrome	Macrocytic anemia, Elevated circulating C-reactive protein concentration, Thrombocytopenia	OMIM:301054
Braddock-Carey Syndrome 1	Sparse hair, Curly hair, Spastic diplegia, Thrombocytopenia	OMIM:619980
Liver Disease, Severe Congenital	Hyponatremia, Dry hair, Elevated circulating alpha-fetoprotein concentration, Thrombocytopenia, S...	OMIM:619991
Beemer-Ertbruggen Syndrome	Increased bone mineral density, Thrombocytopenia	ORPHA:1237
Immunodeficiency 10	Autoimmune hemolytic anemia, Thrombocytopenia	OMIM:612783
Immunodeficiency 60 And Autoimmunity	Splenomegaly, Pancytopenia, Decreased proportion of memory B cells, Decreased basophil count	OMIM:618394
Lathosterolosis	Increased mean platelet volume, Acanthocytosis, Schistocytosis, Osteoporosis, Anisopoikilocytosis...	OMIM:607330
Bleeding Disorder, Platelet-Type, 17	Myelofibrosis, Increased RBC distribution width, Macrothrombocytopenia, Absence of alpha granules...	OMIM:187900
Spinocerebellar Ataxia, Autosomal Recessive 21	Tremor, Splenomegaly, Limb ataxia, Gait ataxia, Spasticity, Frequent falls	OMIM:616719
Rothmund-Thomson Syndrome Type 2	Calcinosis, Osteopenia, Abnormal trabecular bone morphology, Aplastic anemia, Alopecia totalis, S...	ORPHA:221016
Generalized Pustular Psoriasis	Hyponatremia, Elevated circulating C-reactive protein concentration, Leukocytosis, Hypoalbuminemi...	ORPHA:247353
Bile Acid Synthesis Defect, Congenital, 3	Splenomegaly, Hyperbilirubinemia	OMIM:613812
Immune Thrombocytopenia	Thrombocytopenia	ORPHA:3002
Congenital Disorder Of Glycosylation, Type Iit	Decreased serum creatinine, Iron deficiency anemia, Decreased HDL cholesterol concentration, Hypo...	OMIM:618885
Gilbert Syndrome	Unconjugated hyperbilirubinemia	OMIM:143500
Alg8-Cdg	Hyponatremia, Thrombocytopenia, Ataxia, Anemia	ORPHA:79325
Congenital Disorder Of Glycosylation, Type Iil	Splenomegaly, Pancytopenia, Elevated circulating creatine kinase concentration, Thrombocytopenia	OMIM:614576
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome	Tremor, Hypertonia, Anemia	ORPHA:1192
3-Methylglutaconic Aciduria, Type Viii	Clonus, Tremor, Neutropenia, Hypertonia, Dystonia	OMIM:617248
Hypermethioninemia Due To Adenosine Kinase Deficiency	Elevated circulating creatine kinase concentration, Elevated circulating S-adenosyl-L-methionine ...	OMIM:614300
Wiskott-Aldrich Syndrome	Impaired lymphocyte transformation with phytohemagglutinin, Autoimmune hemolytic anemia, Absent m...	OMIM:301000
Cohen Syndrome	Thick hair, Abnormal eyelash morphology, Low anterior hairline, Long eyelashes, Neutropenia, Thic...	ORPHA:193
Dyskeratosis Congenita, Autosomal Recessive 1	Sparse scalp hair, Pancytopenia, Sparse eyelashes, Aplastic anemia, Osteoporosis, Bone marrow hyp...	OMIM:224230
Diffuse Cutaneous Mastocytosis	Myeloproliferative disorder, Abnormality of the spleen, Lymphocytosis	ORPHA:79456
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations	Normocytic anemia, Normochromic anemia, Hemiparesis, Elevated circulating creatinine concentration	ORPHA:247691
Portal Hypertension, Noncirrhotic, 2	Splenomegaly, Thrombocytopenia	OMIM:619463
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome	Craniosynostosis, Decreased proportion of CD8-positive T cells, Hypereosinophilia, Opisthotonus, ...	ORPHA:508533
Autosomal Dominant Spastic Paraplegia Type 29	Babinski sign, Clonus, Hyperbilirubinemia	ORPHA:101009
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome	Highly arched eyebrow, Thrombocytopenia, Sacral hypertrichosis, High nonceruloplasmin-bound serum...	ORPHA:457351
Multiple Myeloma	Osteopenia, Hypercalcemia, Splenomegaly, Elevated circulating creatinine concentration, Hyperprot...	ORPHA:29073
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome	Thrombocytopenia, Hyperbilirubinemia, Hypocalcemia, Anemia	ORPHA:163979
Coenzyme Q10 Deficiency, Primary, 1	Pancytopenia, Ataxia, Elevated circulating creatine kinase concentration, Tremor, Myoclonus, Righ...	OMIM:607426
Dopamine Beta-Hydroxylase Deficiency	Elevated circulating creatinine concentration, Anemia, Increased blood urea nitrogen	ORPHA:230
Icf Syndrome	Anemia, Lymphopenia, Abnormality of neutrophils	ORPHA:2268
Autoimmune Lymphoproliferative Syndrome	Reticulocytosis, Autoimmune hemolytic anemia, Eosinophilia, Autoimmune thrombocytopenia, Hyperspl...	ORPHA:3261
Pearson Syndrome	Reticulocytosis, Pancytopenia, Ataxia, Splenomegaly, Hypomagnesemia, Hypophosphatemia, Anemia, Hy...	ORPHA:699
Combined Oxidative Phosphorylation Deficiency 55	Elevated circulating creatine kinase concentration, Hypophosphatemia, Anemia, Hypomagnesemia, Hyp...	OMIM:619743
Hereditary Amyloidosis With Primary Renal Involvement	Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ...	ORPHA:85450
Basal Ganglia Calcification, Idiopathic, 1	Parkinsonism, Abnormal circulating calcium concentration, Tremor, Chorea, Rigidity, Abnormal pyra...	OMIM:213600
Cartilage-Hair Hypoplasia	Abnormally ossified vertebrae, Sparse eyebrow, Abnormal bone ossification, Hypocalcemia, Neutrope...	ORPHA:175
Citrullinemia, Type Ii, Neonatal-Onset	Hypertyrosinemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Conjugated hyper...	OMIM:605814
Fanconi Anemia, Complementation Group D2	Pancytopenia, Reticulocytopenia, Anemia, Bone marrow hypocellularity, Neutropenia, Leukemia, Thro...	OMIM:227646
Sweet Syndrome	Acute myeloid leukemia, Neutrophilia, Elevated circulating C-reactive protein concentration, Leuk...	ORPHA:3243
Quebec Platelet Disorder	Thrombocytopenia, Impaired epinephrine-induced platelet aggregation	OMIM:601709
Bachmann-Bupp Syndrome	Absent eyebrow, Lower limb spasticity, Sparse scalp hair, Sparse eyelashes, Hyperbilirubinemia	OMIM:619075
Nk-Cell Enteropathy	Increased T cell count	ORPHA:263665
Idiopathic Congenital Hypothyroidism	Delayed proximal femoral epiphyseal ossification, Neonatal hyperbilirubinemia	ORPHA:95717
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency	Autoimmune hemolytic anemia, Pure red cell aplasia, Autoimmune thrombocytopenia, Splenomegaly, Ne...	ORPHA:436159
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency	White hair, Reduced bone mineral density, Fine hair, Lymphopenia, Anemia	ORPHA:935
Thrombocytopenia, X-Linked, With Or Without Dyserythropoietic Anemia	Poikilocytosis, Congenital thrombocytopenia, Anemia of inadequate production, Acanthocytosis	OMIM:300367
Immunodeficiency 87 And Autoimmunity	Decreased proportion of CD4-positive T cells, Hemolytic anemia, Lymphopenia, Autoimmune hemolytic...	OMIM:619573
Fanconi Anemia, Complementation Group F	Leukopenia, Thrombocytopenia, Bone marrow hypocellularity, Anemia	OMIM:603467
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome	Accessory spleen, Severe B lymphocytopenia, Craniosynostosis, Anemia, Sparse hair, Lymphopenia, T...	OMIM:620005
Pauci-Immune Glomerulonephritis	Granulomatosis, Elevated circulating creatinine concentration	ORPHA:93126
Spondyloepimetaphyseal Dysplasia, Sponastrime Type	Osteopenia, Delayed ossification of carpal bones, Neutropenia	OMIM:271510
Glycogen Storage Disease Ic	Hyperuricemia, Hyperlipidemia, Cyclic neutropenia	OMIM:232240
Von Willebrand Disease, Type 3	Impaired platelet aggregation, Thrombocytopenia	OMIM:277480
Lig4 Syndrome	Acute lymphoblastic leukemia, Pancytopenia, Low anterior hairline, Thrombocytopenia	OMIM:606593
Toxic Epidermal Necrolysis	Thrombocytopenia, Anemia, Neutropenia	ORPHA:537
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 1	Amegakaryocytic thrombocytopenia, Aplastic anemia, Congenital thrombocytopenia	OMIM:605432
Prolidase Deficiency	Splenomegaly, Low posterior hairline, Anemia, Facial hirsutism, Thrombocytopenia	OMIM:170100
Shigellosis	Hyponatremia, Abscess, Leukocytosis, Abnormal blood ion concentration, Microangiopathic hemolytic...	ORPHA:810
Hermansky-Pudlak Syndrome	Hypopigmentation of hair, Long eyelashes, Abnormality of thrombocytes, Neutropenia	ORPHA:79430
Degcags Syndrome	Osteopenia, Abnormal eyebrow morphology, Pancytopenia, Hypopigmentation of hair, Craniosynostosis...	OMIM:619488
Senior-Loken Syndrome 1	Elevated circulating creatinine concentration, Anemia	OMIM:266900
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib	Osteopenia, Hypertriglyceridemia, Chronic neutropenia, Hyperlipidemia, Osteoporosis, Hyperuricemi...	ORPHA:79259
Peroxisome Biogenesis Disorder 12A (Zellweger)	Elevated circulating long chain fatty acid concentration, Abnormal cortical bone morphology, Hype...	OMIM:614886
Smith-Kingsmore Syndrome	Curly hair, Thrombocytopenia	OMIM:616638
Hermansky-Pudlak Syndrome 5	Absent platelet dense granules, Impaired ADP-induced platelet aggregation, Thrombocytopenia, Albi...	OMIM:614074
Idiopathic Non-Lupus Full-House Nephropathy	Elevated circulating creatinine concentration	ORPHA:567544
Transaldolase Deficiency	Pancytopenia, Splenomegaly, Synophrys, Hepatosplenomegaly, Anemia, Thrombocytopenia	OMIM:606003
Immunodeficiency 47	Normocytic anemia, Accessory spleen, Decreased circulating copper concentration, Splenomegaly, Le...	OMIM:300972
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2	Elevated circulating creatinine concentration, Hyperuricemia, Anemia	OMIM:174000
Gaucher Disease, Type I	Pancytopenia, Hypersplenism, Splenomegaly, Anemia, Thrombocytopenia	OMIM:230800
Hemorrhagic Fever-Renal Syndrome	Leukocytosis, Elevated circulating creatinine concentration, Hyperkalemia, Anemia, Hyperphosphate...	ORPHA:340
Autoimmune Hepatitis	Splenomegaly, Increased total bilirubin	ORPHA:2137
Osteopetrosis With Renal Tubular Acidosis	Pancytopenia, Elevated circulating creatine kinase concentration, Anemia, Leukopenia, Elliptocyto...	ORPHA:2785
Wilson Disease	Splenomegaly, Thrombocytopenia, Anemia, Clumsiness	ORPHA:905
Pseudo-Torch Syndrome 1	Splenomegaly, Spasticity, Thrombocytopenia, Dystonia	OMIM:251290
Zika Virus Disease	Thrombocytopenia	ORPHA:448237
Good Syndrome	Abnormal leukocyte morphology, Thrombocytopenia, Anemia	ORPHA:169105
Spastic Paraplegia 29, Autosomal Dominant	Lower limb spasticity, Clonus, Babinski sign, Spastic paraplegia, Upper limb spasticity, Neonatal...	OMIM:609727
Coach Syndrome 2	Oculomotor apraxia, Elevated circulating creatinine concentration	OMIM:619111
Rajab Interstitial Lung Disease With Brain Calcifications 1	Osteopenia, Pancytopenia, Thin bony cortex, Rickets, Reduced bone mineral density, Hypoalbuminemi...	OMIM:613658
Wars2-Related Combined Oxidative Phosphorylation Defect	Ataxia, Tremor, Spastic tetraplegia, Dysmetria, Athetosis, Limb dystonia, Thrombocytopenia, Limb ...	ORPHA:572798
Insulin-Resistance Syndrome Type B	Alopecia, Abnormal circulating lipid concentration, Abnormal circulating fatty-acid concentration...	ORPHA:2298
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant	Hemolytic anemia, Increased mean platelet volume, Impaired ristocetin-induced platelet aggregatio...	OMIM:153670
Alg12-Cdg	Hyponatremia, Low posterior hairline, Abnormal bone ossification, B lymphocytopenia, Hypoalbumine...	ORPHA:79324
Familial Mediterranean Fever	Neutrophilia, Elevated circulating C-reactive protein concentration, Splenomegaly, Leukocytosis, ...	OMIM:249100
Bile Acid Conjugation Defect 1	Conjugated hyperbilirubinemia, Rickets	OMIM:619232
Ivic Syndrome	Leukocytosis, Thrombocytopenia	OMIM:147750
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Thick hair, Hepatosplenomegaly, Anemia, Leukopenia, Long eyelashes, Bone marrow hypocellularity, ...	ORPHA:505248
Castleman Disease	Myelofibrosis, Elevated circulating C-reactive protein concentration, Anemia, Decreased mean corp...	ORPHA:160
Nijmegen Breakage Syndrome	T lymphocytopenia, Autoimmune hemolytic anemia, B lymphocytopenia, Thrombocytopenia	OMIM:251260
Coenzyme Q10 Deficiency, Primary, 8	Elevated circulating creatinine concentration	OMIM:616733
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome	Granuloma, Hyperbilirubinemia	ORPHA:562639
Aicardi-Goutieres Syndrome 1	Splenomegaly, Abnormality of extrapyramidal motor function, Dystonia, Spasticity, Thrombocytopenia	OMIM:225750
Diamond-Blackfan Anemia 1	Macrocytic anemia, Congenital hypoplastic anemia, Reticulocytopenia, Persistence of hemoglobin F,...	OMIM:105650
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)	Conjugated hyperbilirubinemia, Hyperkalemia, Hypoalbuminemia, Increased total bilirubin	OMIM:618528
Familial Thyroid Dyshormonogenesis	Delayed proximal femoral epiphyseal ossification, Abnormal circulating thyroglobulin level, Neona...	ORPHA:95716
Neurodevelopmental Disorder With Microcephaly, Seizures, And Neonatal Cholestasis	Increased serum bile acid concentration, Hyperbilirubinemia, Opisthotonus	OMIM:619685
Pneumocystosis	Abnormal neutrophil count	ORPHA:723
Mitochondrial Complex I Deficiency, Nuclear Type 20	Thrombocytopenia	OMIM:611126
Systemic Lupus Erythematosus	Hemolytic anemia, Alopecia, Chorea, Leukopenia, Thrombocytopenia	ORPHA:536
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency	Low anterior hairline, Neonatal hyperbilirubinemia, Osteoporosis, Low posterior hairline	ORPHA:73272
Maternal Uniparental Disomy Of Chromosome 6	Thrombocytopenia	ORPHA:96181
Congenital Hypothyroidism Due To Transplacental Passage Of Tsh-Binding Inhibitory Antibodies	Conjugated hyperbilirubinemia, Abnormal circulating thyroglobulin level	ORPHA:95715
Biliary Atresia, Extrahepatic	Unconjugated hyperbilirubinemia, Hyperbilirubinemia, Increased total bilirubin	OMIM:210500
Peroxisome Biogenesis Disorder 5A (Zellweger)	Conjugated hyperbilirubinemia, Splenomegaly, Elevated circulating phytanic acid concentration, He...	OMIM:614866
Pyruvate Carboxylase Deficiency	Hypoglutaminemia, Increased serum pyruvate, Hyperglutamatemia, Ataxia, Tremor, Abnormal pyramidal...	ORPHA:3008
Fanconi-Bickel Syndrome	Hypouricemia, Osteomalacia, Rickets, Generalized aminoaciduria, Hypophosphatemia, Hypokalemia, Hy...	OMIM:227810
Porphyria, Congenital Erythropoietic	Osteopenia, Hemolytic anemia, Alopecia, Absent eyebrow, Splenomegaly, Loss of eyelashes, Osteolys...	OMIM:263700
Tangier Disease	Hypertriglyceridemia, Hepatosplenomegaly, Anemia, Nail dystrophy, Hypocholesterolemia, Thrombocyt...	ORPHA:31150
Brucellosis	Liver abscess, Lung abscess, Elevated circulating C-reactive protein concentration, Hypersplenism...	ORPHA:1304
Catastrophic Antiphospholipid Syndrome	Coombs-positive hemolytic anemia, Chorea, Microangiopathic hemolytic anemia, Thrombocytopenia	ORPHA:464343
Gaucher Disease, Type Ii	Rigidity, Splenomegaly, Anemia, Hypertonia, Oculomotor apraxia, Spasticity, Thrombocytopenia	OMIM:230900
Igg4-Related Retroperitoneal Fibrosis	Normocytic anemia, Elevated circulating creatinine concentration, Elevated circulating C-reactive...	ORPHA:49041
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome	Dystonia, Abnormal blood inorganic cation concentration, Action tremor, Rigidity, Splenomegaly, B...	ORPHA:309854
Drug Reaction With Eosinophilia And Systemic Symptoms	Eosinophilia, Lymphocytosis	ORPHA:139402
Car T Cell Therapy-Associated Cytokine Release Syndrome	Elevated circulating creatinine concentration, Hyperbilirubinemia	ORPHA:542323
Senior-Boichis Syndrome	Increased total bilirubin, Anemia, Hepatosplenomegaly	ORPHA:84081
Japanese Encephalitis	Hyponatremia, Neutrophilia, Weakness due to upper motor neuron dysfunction, Paralysis, Tremor, Op...	ORPHA:79139
Combined Immunodeficiency Due To Crac Channel Dysfunction	Splenomegaly, Hemolytic anemia, Thrombocytopenia	ORPHA:169090
Nephronophthisis-Like Nephropathy 2	Elevated circulating creatinine concentration	OMIM:619468
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Elevated circulating creatine kinase concentration, Elevated circulating long chain fatty acid co...	OMIM:608836
Liver Failure, Infantile, Transient	Hypoalbuminemia, Hyperbilirubinemia	OMIM:613070
Aspartylglucosaminuria	Spasticity, Vacuolated lymphocytes, Aspartylglucosaminuria, Neutropenia	OMIM:208400
Noonan Syndrome 4	Sparse eyebrow, Curly hair, High anterior hairline, Thrombocytopenia	OMIM:610733
Bone Fragility With Contractures, Arterial Rupture, And Deafness	Osteopenia, Coarse hair, Thrombocytopenia	OMIM:612394
Pseudo-Torch Syndrome 2	Thrombocytopenia	OMIM:617397
Recon Progeroid Syndrome	Thrombocytopenia, Absent lower eyelashes, Hirsutism, Anemia	OMIM:620370
Fetal And Neonatal Alloimmune Thrombocytopenia	Cerebral palsy, Neonatal alloimmune thrombocytopenia	ORPHA:853
C3 Glomerulopathy	Elevated circulating creatinine concentration	ORPHA:329918
Hardikar Syndrome	Hypersplenism, Splenomegaly, Osteoporosis, Hepatosplenomegaly, Hyperbilirubinemia, Thrombocytopenia	OMIM:301068
Dyskeratosis Congenita, X-Linked	Acute myeloid leukemia, Pancytopenia, Alopecia, Sparse eyelashes, Ataxia, Osteoporosis, Anemia, L...	OMIM:305000
Cholestasis, Benign Recurrent Intrahepatic, 1	Conjugated hyperbilirubinemia, Increased serum bile acid concentration	OMIM:243300
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia	Dystonia, Ataxia, Elevated circulating creatine kinase concentration, Tremor, Chorea, Limb ataxia...	OMIM:208920
Ogden Syndrome	Torticollis, Sparse eyebrow, Fine hair, Iron deficiency anemia, Hypertonia, Long eyelashes, Hyper...	OMIM:300855
Gaucher Disease	Osteopenia, Pancytopenia, Increased bone mineral density, Ataxia, Elevated circulating C-reactive...	ORPHA:355
Dyskeratosis Congenita	Abnormal eyebrow morphology, Alopecia, Abnormality of neutrophils, Abnormal eyelash morphology, T...	ORPHA:1775
Chronic Visceral Acid Sphingomyelinase Deficiency	Osteopenia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Ataxia, Autoimmune thr...	ORPHA:77293
Diamond-Blackfan Anemia 21	Erythroid hypoplasia, Synophrys, Widow's peak, Anemia, Coarse hair, Horizontal eyebrow, Thrombocy...	OMIM:620072
Farber Disease	Paraparesis, Osteoporosis, Hepatosplenomegaly, Anemia, Myoclonus, Spasticity, Thrombocytopenia	ORPHA:333
Parenteral Nutrition-Associated Cholestasis	Conjugated hyperbilirubinemia, Splenomegaly, Hyperlipidemia, Abnormal circulating fatty-acid conc...	ORPHA:567983
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia	Absent circulating B cells	OMIM:307200
Hypermanganesemia With Dystonia 2	Hypermanganesemia, Generalized dystonia, Elevated circulating creatine kinase concentration, Park...	OMIM:617013
Intrahepatic Cholestasis Of Pregnancy	Tremor, Increased serum bile acid concentration, Hyperbilirubinemia	ORPHA:69665
Aicardi-Goutieres Syndrome 7	Hemolytic anemia, Pancytopenia, Lower limb spasticity, Spastic tetraparesis, Splenomegaly, Increa...	OMIM:615846
Scleroderma, Familial Progressive	Chromosome breakage, Abnormality of chromosome stability	OMIM:181750
Blue Rubber Bleb Nevus	Iron deficiency anemia, Thrombocytopenia	OMIM:112200
Syndromic Multisystem Autoimmune Disease Due To Itch Deficiency	Hypersplenism, Pancytopenia, Neutropenia in presence of anti-neutropil antibodies, Hepatosplenome...	ORPHA:228426
Neurodegeneration With Brain Iron Accumulation 3	Ataxia, Writer's cramp, Parkinsonism, Tremor, Rigidity, Chorea, Babinski sign, Spasticity, Choreo...	OMIM:606159
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis	Ataxia, Postural tremor, Splenomegaly, Babinski sign, Lower limb hypertonia, Myoclonus, Truncal a...	OMIM:301072
Congenital Disorder Of Glycosylation, Type Iig	Osteopenia, Thrombocytopenia, Giant platelets, Anemia	OMIM:611209
Fanconi Anemia, Complementation Group B	Aplastic anemia, Thrombocytopenia	OMIM:300514
Infection-Related Hemolytic Uremic Syndrome	Hyponatremia, Hemolytic anemia, Brain abscess, Leukocytosis, Hyperkalemia, Hemiparesis, Hypocalce...	ORPHA:544482
Mogs-Cdg	Alopecia, Thrombocytopenia, Hepatosplenomegaly, Long eyelashes, Dystonia, Fair hair, Hirsutism	ORPHA:79330
Fanconi Renotubular Syndrome 3	Aminoaciduria, Elevated circulating creatinine concentration, Rickets	OMIM:615605
Gaucher Disease Type 3	Pancytopenia, Increased bone mineral density, Ataxia, Splenomegaly, Osteolysis, Anemia, Thrombocy...	ORPHA:77261
Bile Acid Synthesis Defect, Congenital, 4	Decreased serum bile acid concentration, Hyperbilirubinemia	OMIM:214950
16Q24.3 Microdeletion Syndrome	Highly arched eyebrow, Increased mean corpuscular volume, Abnormal hair pattern, Thrombocytopenia	ORPHA:261250
Isolated Biliary Atresia	Conjugated hyperbilirubinemia, Splenomegaly	ORPHA:30391
Interstitial Nephritis, Karyomegalic	Elevated circulating creatinine concentration, Increased blood urea nitrogen	OMIM:614817
Renal Tubular Acidosis, Distal, 1	Hypokalemia, Osteomalacia, Elevated circulating creatinine concentration, Hypocalcemia	OMIM:179800
Thauvin-Robinet-Faivre Syndrome	Transient neutropenia	OMIM:617107
Cranioectodermal Dysplasia 2	Sparse eyelashes, Craniosynostosis, Sparse eyebrow, Splenomegaly, Polysplenia, Hyperbilirubinemia...	OMIM:613610
Thrombocytopenia 3	Thrombocytopenia, Decreased mean platelet volume	OMIM:273900
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair	Red hair, Hyperbilirubinemia	OMIM:609734
Lissencephaly Due To Lis1 Mutation	Progressive spastic quadriplegia, Neonatal hyperbilirubinemia, Tetraplegia, Opisthotonus	ORPHA:95232
Cholestasis, Progressive Familial Intrahepatic, 5	Conjugated hyperbilirubinemia, Hyperammonemia, Elevated circulating alpha-fetoprotein concentration	OMIM:617049
Idiopathic Hypereosinophilic Syndrome	Myelofibrosis, Neutrophilia, Eosinophilia, Thrombocytopenia, Leukocytosis, Splenomegaly, Hepatosp...	ORPHA:3260
Takenouchi-Kosaki Syndrome	Ataxia, Highly arched eyebrow, Increased mean platelet volume, Sparse eyebrow, Synophrys, Thrombo...	OMIM:616737
21Q22.11Q22.12 Microdeletion Syndrome	Thrombocytopenia, Hypoplastic nipples, Anemia, Nail dystrophy	ORPHA:261323
Tay-Sachs Disease	Exaggerated startle response, Incoordination, Dystonia, Increased serum beta-hexosaminidase, Trem...	ORPHA:845
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy	Conjugated hyperbilirubinemia, Hyperammonemia, Decreased serum zinc, Hypoalbuminemia, Spasticity	OMIM:617093
Myopathy With Myalgia, Increased Serum Creatine Kinase, And With Or Without Episodic Rhabdomyolysis	Elevated circulating creatinine concentration, Elevated circulating creatine kinase concentration	OMIM:620138
Hyper-Igd Syndrome	Splenomegaly, Leukocytosis, Neutrophilia, Hepatosplenomegaly	OMIM:260920
Distal Xq28 Microduplication Syndrome	Neonatal hyperbilirubinemia, Aplasia/Hypoplasia of the eyebrow	ORPHA:293939
Primary Sjögren Syndrome	Normocytic anemia, Chorea, Leukopenia, Normochromic anemia, Decreased proportion of CD4-positive ...	ORPHA:289390
Kaposiform Lymphangiomatosis	Splenomegaly, Osteolysis, Hepatosplenomegaly, Anemia, Abnormal spleen morphology, Thrombocytopenia	ORPHA:464329
Gaucher Disease, Perinatal Lethal	Splenomegaly, Opisthotonus, Anemia, Hepatosplenomegaly, Thrombocytopenia	OMIM:608013
Arthrogryposis, Renal Dysfunction, And Cholestasis 2	Conjugated hyperbilirubinemia, Aminoaciduria	OMIM:613404
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly	Elevated circulating creatinine concentration, Supernumerary nipple	OMIM:614376
Zygomycosis	Brain abscess, Splenic abscess, Osteolysis, Neutropenia	ORPHA:73263
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome	Transient neutropenia, Chronic neutropenia	ORPHA:500095
Lathosterolosis	Thrombocytopenia, Anisopoikilocytosis, Abnormal platelet morphology, Myoclonus	ORPHA:46059
Leukocyte Adhesion Deficiency Type Ii	Broad eyebrow, Neutrophilia, Ataxia, Microcytic anemia, Leukocytosis, Low anterior hairline, Lowe...	ORPHA:99843
Congenital Disorder Of Glycosylation, Type Ia	Osteopenia, Ataxia, Tremor, Dysmetria, Hypoalbuminemia, Hypocholesterolemia, Thrombocytosis, Inte...	OMIM:212065
Cholestasis, Progressive Familial Intrahepatic, 8	Conjugated hyperbilirubinemia, Hypercholesterolemia, Elevated circulating alpha-fetoprotein conce...	OMIM:619662
Ichthyosis, Mental Retardation, Dwarfism, And Renal Impairment	Elevated circulating creatinine concentration	OMIM:242530
Rift Valley Fever	Paralysis, Paraparesis, Anemia, Hemiparesis, Decerebrate rigidity, Thrombocytopenia	ORPHA:319251
Stevens-Johnson Syndrome	Anemia, Thrombocytopenia, Abnormality of neutrophils	ORPHA:36426
Crimean-Congo Hemorrhagic Fever	Pancytopenia, Neutrophilia, Elevated circulating creatine kinase concentration, Splenomegaly, Leu...	ORPHA:99827
Dubowitz Syndrome	Sparse scalp hair, Abnormality of neutrophils, Craniosynostosis, Low anterior hairline, Fine hair...	ORPHA:235
Dubin-Johnson Syndrome	Conjugated hyperbilirubinemia	ORPHA:234
Fructose-1,6-Bisphosphatase Deficiency	Hyperalaninemia, Hyperuricemia, Neonatal hyperbilirubinemia	ORPHA:348
Nephronophthisis 2	Elevated circulating creatinine concentration, Hyperkalemia	OMIM:602088
Thrombocytopenia-Absent Radius Syndrome	Thrombocytopenia	ORPHA:3320
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)	Hypertyrosinemia, Conjugated hyperbilirubinemia, Hypoalbuminemia, Hypermethioninemia, Hyperbiliru...	OMIM:617156
Developmental Delay, Impaired Speech, And Behavioral Abnormalities	Thick eyebrow, Isometric tremor, Ataxia, Clonus, Torticollis, Cerebral palsy, Head titubation, Sy...	OMIM:619475
Cholestasis, Progressive Familial Intrahepatic, 6	Conjugated hyperbilirubinemia	OMIM:619484
Acrodermatitis Enteropathica, Zinc-Deficiency Type	Ataxia, Tremor, Splenomegaly, Decreased serum zinc, Alopecia of scalp	OMIM:201100
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome	Coarse hair, Severe B lymphocytopenia, B lymphocytopenia, Coronal craniosynostosis	ORPHA:83617
Atelis Syndrome 2	Thrombocytopenia, Anemia, Dysmetria	OMIM:620185
Fibular Hemimelia	Craniosynostosis, Thrombocytopenia, Abnormal bone ossification	ORPHA:93323
Hellp Syndrome	Hemolytic anemia, Decreased mean corpuscular hemoglobin concentration, Microangiopathic hemolytic...	ORPHA:244242
Cholestasis, Benign Recurrent Intrahepatic, 2	Conjugated hyperbilirubinemia	OMIM:605479
Nephrogenic Syndrome Of Inappropriate Antidiuresis	Hyponatremia, Decreased circulating renin level, Reduced blood urea nitrogen, Decreased serum cre...	OMIM:300539
Thrombocytopenia 1	Congenital thrombocytopenia, Decreased mean platelet volume, Intermittent thrombocytopenia	OMIM:313900
Igg4-Related Kidney Disease	Decreased retinol-binding protein level, Elevated circulating creatinine concentration, Eosinophi...	ORPHA:449395
Sarcoidosis	Hemolytic anemia, Alopecia, Eosinophilia, Hypercalcemia, Increased T cell count, Bone cyst, Anemi...	ORPHA:797
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome	Absent nipple, Aplasia of the thymus, Sparse eyebrow, Hypoplastic nipples, Nail dystrophy, Unconj...	OMIM:620186
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease	Hypokalemia, Elevated circulating creatinine concentration, Elevated circulating alpha-fetoprotei...	OMIM:613095
Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency	Elevated circulating creatinine concentration, Hyperuricemia, Abnormality of extrapyramidal motor...	ORPHA:79233
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia	Highly arched eyebrow, Decreased hemoglobin concentration, Long eyelashes, Thrombocytopenia	OMIM:619005
Parkinson Disease 14, Autosomal Recessive	Eyelid apraxia, Axial dystonia, Resting tremor, Parkinsonism, Elevated circulating creatine kinas...	OMIM:612953
Alport Syndrome 1, X-Linked	Thrombocytopenia	OMIM:301050
Isolated Thyroid-Stimulating Hormone Deficiency	Delayed proximal femoral epiphyseal ossification, Clumsiness, Hypercholesterolemia, Abnormal circ...	ORPHA:90674
Peroxisome Biogenesis Disorder 13A (Zellweger)	Conjugated hyperbilirubinemia, Increased circulating very long-chain fatty acid concentration	OMIM:614887
Spinocerebellar Ataxia, Autosomal Recessive 30	Increased serum pyruvate, Ataxia, Elevated circulating creatine kinase concentration, Tremor, Dys...	OMIM:619405
Adenine Phosphoribosyltransferase Deficiency	Elevated circulating creatinine concentration	OMIM:614723
Autosomal Spastic Paraplegia Type 58	Spastic ataxia, Torticollis, Clonus, Tremor, Chorea, Babinski sign, Abnormal pyramidal sign, Dysm...	ORPHA:397946
Exercise-Induced Malignant Hyperthermia	Ataxia, Elevated circulating creatine kinase concentration, Hyperkalemia, Hyperphosphatemia, Hypo...	ORPHA:466650
Nijmegen Breakage Syndrome	Abnormal hair quantity, Hemolytic anemia, Autoimmune hemolytic anemia, Abnormal hair morphology, ...	ORPHA:647
Triosephosphate Isomerase Deficiency	Normocytic anemia, Hemolytic anemia, Macrocytic anemia, Tremor, Splenomegaly, Normochromic anemia...	OMIM:615512
Bernard-Soulier Syndrome	Decreased platelet glycoprotein Ib-IX-V, Giant platelets, Macrothrombocytopenia, Impaired ristoce...	ORPHA:274
Aicardi-Goutières Syndrome	Extrapyramidal muscular rigidity, Dystonia, Neonatal alloimmune thrombocytopenia, Tremor, Hemiple...	ORPHA:51
Niemann-Pick Disease Type C	Axial dystonia, Lower limb spasticity, Speech apraxia, Dystonia, Ataxia, Bone-marrow foam cells, ...	ORPHA:646
Hypothyroidism Due To Tsh Receptor Mutations	Delayed proximal femoral epiphyseal ossification, Increased circulating thyroglobulin level, Neon...	ORPHA:90673
Sponastrime Dysplasia	Delayed epiphyseal ossification, Ivory epiphyses of the phalanges of the hand, Neutropenia	ORPHA:93357
Q Fever	Splenomegaly, Hepatosplenomegaly, Anemia, Granuloma, Thrombocytopenia	ORPHA:781
Primary Biliary Cholangitis	Conjugated hyperbilirubinemia, Abnormal circulating lipid concentration, Hypoalbuminemia, Osteopo...	ORPHA:186
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum	Trichiasis, Nail dystrophy, Anemia, Neutropenia	ORPHA:95455
Peripheral Neuropathy With Variable Spasticity, Exercise Intolerance, And Developmental Delay	Elevated hemoglobin A1c, Tremor, Babinski sign, Hypertonia, Spasticity	OMIM:616539
Thrombocytopenia-Absent Radius Syndrome	Eosinophilia, Leukocytosis, Hepatosplenomegaly, Anemia, Thrombocytopenia	OMIM:274000
Tubulointerstitial Nephritis And Uveitis Syndrome	Normocytic anemia, Elevated circulating C-reactive protein concentration, Elevated circulating cr...	ORPHA:91500
Biliary, Renal, Neurologic, And Skeletal Syndrome	Osteopenia, Conjugated hyperbilirubinemia, Splenomegaly, Increased circulating ferritin concentra...	OMIM:619534
Listeriosis	Brain abscess, Liver abscess, Ataxia, Abscess, Tremor, Abnormal cellular immune system morphology...	ORPHA:533
Jacobsen Syndrome	Abnormal eyelash morphology, Spasticity, Thrombocytopenia	OMIM:147791
Neuropathy, Hereditary Sensory And Autonomic, Type Iii	Incoordination, Elevated circulating creatinine concentration, Increased blood urea nitrogen	OMIM:223900
Neurodegeneration With Brain Iron Accumulation 1	Eyelid apraxia, Ataxia, Parkinsonism, Acanthocytosis, Tremor, Rigidity, Babinski sign, Abnormal p...	OMIM:234200
Cornelia De Lange Syndrome 1	Curly eyelashes, Highly arched eyebrow, Synophrys, Hirsutism, Low posterior hairline, Hypertonia,...	OMIM:122470
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome	Pancytopenia, Paralysis, Abnormality of the spleen, Splenomegaly, Spastic paraplegia, Limb ataxia...	ORPHA:2072
Mitchell-Riley Syndrome	Hyperbilirubinemia	OMIM:615710
46,Xy Sex Reversal 4	Elevated circulating creatinine concentration, Increased blood urea nitrogen	OMIM:154230
Pituitary Hormone Deficiency, Combined, 6	Hyperbilirubinemia	OMIM:613986
Autosomal Recessive Malignant Osteopetrosis	Craniosynostosis, Abnormality of hair texture, Tremor, Splenomegaly, Reduced bone mineral density...	ORPHA:667
Oculocerebrorenal Syndrome Of Lowe	Hyponatremia, Sparse scalp hair, Hypoammonemia, Osteomalacia, Clonus, Thrombocytopenia, Fine hair...	ORPHA:534
Aapoaiv Amyloidosis	Hyperlipidemia, Elevated circulating creatinine concentration	ORPHA:439232
Acute Liver Failure	Incoordination, Ataxia, Slurred speech, Hyperammonemia, Thrombocytopenia	ORPHA:90062
Fanconi Anemia	Pyridoxine-responsive sideroblastic anemia, Thrombocytopenia, Reduced bone mineral density, Leuko...	ORPHA:84
Hypouricemia, Renal, 1	Elevated circulating creatinine concentration, Hypouricemia	OMIM:220150
Hereditary Arterial And Articular Multiple Calcification Syndrome	Decreased serum creatinine	ORPHA:289601
Proteasome-Associated Autoinflammatory Syndrome 1	Decreased HDL cholesterol concentration, Hypertriglyceridemia, Sparse axillary hair, Microcytic a...	OMIM:256040
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome	Highly arched eyebrow, Increased mean platelet volume, Sparse eyebrow, Synophrys, Thrombocytopenia	ORPHA:487796
Deeah Syndrome	Decreased hemoglobin concentration, Thrombocytopenia, Low posterior hairline	OMIM:619004
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2	Elevated circulating creatine kinase concentration, Elevated circulating alpha-fetoprotein concen...	OMIM:606002
Roberts Syndrome	Sparse hair, Craniosynostosis, Thrombocytopenia	ORPHA:3103
Papillorenal Syndrome	Elevated circulating creatinine concentration	OMIM:120330
Juvenile Nephropathic Cystinosis	Hyponatremia, Hypouricemia, Elevated circulating creatinine concentration, Hypokalemia, Aminoacid...	ORPHA:411634
Mirizzi Syndrome	Hyperbilirubinemia	ORPHA:521219
Autosomal Recessive Polycystic Kidney Disease	Hyponatremia, Hypersplenism, Splenomegaly, Hepatosplenomegaly, Increased serum bile acid concentr...	ORPHA:731
Fructose Intolerance, Hereditary	Transient aminoaciduria, Bicarbonaturia, Hyperuricemia, Hyperbilirubinemia, Hypophosphatemia	OMIM:229600
Cystinosis, Adult Nonnephropathic	Elevated circulating creatinine concentration	OMIM:219750
Cryoglobulinemia, Familial Mixed	Elevated circulating creatinine concentration	OMIM:123550
Microcephalic Osteodysplastic Primordial Dwarfism, Type I	Sparse scalp hair, Sparse eyelashes, Sparse eyebrow, Delayed epiphyseal ossification, Fine hair, ...	OMIM:210710
Leptospirosis	Hyperproteinemia, Thrombocytopenia	ORPHA:509
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly	Conjugated hyperbilirubinemia, Early ossification of capital femoral epiphyses	OMIM:208500
Adult-Onset Dystonia-Parkinsonism	Eyelid apraxia, Tremor, Rigidity, Parkinsonism with favorable response to dopaminergic medication...	ORPHA:199351
Jacobsen Syndrome	Aplasia/Hypoplasia of the eyebrow, Bone marrow hypocellularity, Thrombocytopenia	ORPHA:2308
Congenital Disorder Of Glycosylation, Type Iiw	Microcytic anemia, Splenomegaly, Osteoporosis, Anemia, Thrombocytopenia	OMIM:619525
Hypothyroidism, Congenital, Nongoitrous, 2	Increased circulating thyroglobulin level, Hyperbilirubinemia	OMIM:218700
Oligomeganephronia	Elevated circulating creatinine concentration	ORPHA:2260
Autosomal Dominant Polycystic Kidney Disease	Elevated circulating creatinine concentration	ORPHA:730
22Q11.2 Deletion Syndrome	Abnormality of thrombocytes, Splenomegaly, Multiple suture craniosynostosis, Hypoplasia of the th...	ORPHA:567
Osteogenesis Imperfecta	Osteopenia, Ataxia, Osteoporosis, Decreased skull ossification, Tetraparesis, Abnormal cortical b...	ORPHA:666
Cardiogenic Shock	Elevated circulating creatinine concentration	ORPHA:97292
Pterin-4 Alpha-Carbinolamine Dehydratase Deficiency	Cerebral palsy, Abnormal circulating biopterin concentration, Parkinsonism, Oculogyric crisis, Hy...	ORPHA:1578
Structural Heart Defects And Renal Anomalies Syndrome	Elevated circulating creatinine concentration	OMIM:617478
Johanson-Blizzard Syndrome	Sparse scalp hair, Increased VLDL cholesterol concentration, Conjugated hyperbilirubinemia, Splen...	OMIM:243800
Igg4-Related Dacryoadenitis And Sialadenitis	Thrombocytopenia	ORPHA:79078
Neurooculorenal Syndrome	Conjugated hyperbilirubinemia, Highly arched eyebrow	OMIM:620305
Digeorge Syndrome	Splenomegaly, Anemia, Hemiparesis, Hypoplasia of the thymus, Hypocalcemia, Thrombocytopenia	OMIM:188400
Noonan Syndrome 1	Woolly hair, Amegakaryocytic thrombocytopenia, Juvenile myelomonocytic leukemia, Low posterior ha...	OMIM:163950
Renal Cysts And Diabetes Syndrome	Elevated circulating creatinine concentration, Hyperuricemia	OMIM:137920
Congenital Disorder Of Glycosylation, Type Iim	Neonatal hyperbilirubinemia, Thick eyebrow	OMIM:300896
Hereditary Pheochromocytoma-Paraganglioma	Tremor, Vocal cord paralysis, Hypercalcemia	ORPHA:29072
Pheochromocytoma	Hypercalcemia	OMIM:171300

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.

There is no histopathology data for Tmem127

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 Tmem127.

There are 5 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)	Tmem127^{tm1(KOMP)Wtsi}	PMC7263671
High-throughput phenotyping reveals expansive genetic and structural underpinnings of immune variation.	Nature immunology (December 2019)	Tmem127^{tm1(KOMP)Wtsi}	PMC7338221
Large-scale neuroanatomical study uncovers 198 gene associations in mouse brain morphogenesis.	Nature communications (August 2019)	Tmem127^{tm1(KOMP)Wtsi}	PMC6671969
Mouse screen reveals multiple new genes underlying mouse and human hearing loss.	PLoS biology (April 2019)	Tmem127^{tm1(KOMP)Wtsi}	PMC6459510
Genome wide in vivo mouse screen data from studies to assess host regulation of metastatic colonisation.	Scientific data (September 2017)	Tmem127^{tm1(KOMP)Wtsi}	PMC5827107

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MGI Allele	Allele Type	Produced
Tmem127^{tm1(KOMP)Wtsi}	Reporter-tagged deletion allele (with selection cassette)	Mice, Targeting vectors, ES Cells
Tmem127^{tm444523(L1L2_GT1_LF2A_LacZ_BetactP_neo)}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors
Tmem127^{tm1(KOMP)Vlcg}	Reporter-tagged deletion allele (with selection cassette)	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: Tmem127 MGI:1916720

Gene Summary

IMPC Data Collections

IMPC Phenotype Summary

Phenotypes

lacZ Expression

Associated Images

X-ray

Spleen Immunophenotyping

Mesenteric Lymph Node Immunophenotyping

Anti-nuclear antibody assay

X-ray

X-ray

X-ray

DSS Histology

X-ray

Eye Morphology

Ear epidermis immunophenotyping

Legacy Phenotype Associated Images

Human diseases caused by Tmem127 mutations

Histopathology

IMPC related publications

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Access Data Release 20.1 Data