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Gene: Cog6 MGI:1914792

Gene Summary

Name:

component of oligomeric golgi complex 6

Synonyms:

N/A

Order Alleles

IMPC Data Collections

Body Weight Measurements
No Embryo Imaging Data
Viability Data

IMPC Phenotype Summary

Significant

Not Significant

Not tested

View all our phenotype data below

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

Phenotype	Allele	Zyg	Life Stage	P Value
increased KLRG1-positive T-helper cell number	Cog6^{tm1a(EUCOMM)Wtsi}	HOM	Early adult	0.00
increased granulocyte number	Cog6^{tm1a(EUCOMM)Wtsi}	HOM	Early adult	0.00
decreased memory-marker CD4-positive NK T cell number	Cog6^{tm1a(EUCOMM)Wtsi}	HOM	Early adult	0.00
increased follicular B cell number	Cog6^{tm1a(EUCOMM)Wtsi}	HOM	Early adult	0.00
decreased T cell number	Cog6^{tm1a(EUCOMM)Wtsi}	HOM	Early adult	0.00
decreased CD8-positive, alpha-beta T cell number	Cog6^{tm1a(EUCOMM)Wtsi}	HOM	Early adult	0.00
abnormal cornea morphology	Cog6^{tm1a(EUCOMM)Wtsi}	HOM	Early adult	3.41×10^-05
increased CD4-positive, alpha-beta memory T cell number	Cog6^{tm1a(EUCOMM)Wtsi}	HOM	Early adult	0.00
decreased NK cell number	Cog6^{tm1a(EUCOMM)Wtsi}	HOM	Early adult	0.00
increased circulating amylase level	Cog6^{tm1a(EUCOMM)Wtsi}	HOM	Early adult	2.72×10^-05
increased B-2 B cell number	Cog6^{tm1a(EUCOMM)Wtsi}	HOM	Early adult	0.00
decreased Ly6C-positive mature NK cell number	Cog6^{tm1a(EUCOMM)Wtsi}	HOM	Early adult	0.00
increased CD4-positive, CD25-positive, alpha-beta regulatory T cell number	Cog6^{tm1a(EUCOMM)Wtsi}	HOM	Early adult	0.00
increased anti-nuclear antigen antibody level	Cog6^{tm1a(EUCOMM)Wtsi}	HOM	Early adult	0.00
increased plasma cell number	Cog6^{tm1a(EUCOMM)Wtsi}	HOM	Early adult	0.00
increased CD4-negative NK T cell number	Cog6^{tm1a(EUCOMM)Wtsi}	HOM	Early adult	0.00
decreased memory-marker CD4-negative NK T cell number	Cog6^{tm1a(EUCOMM)Wtsi}	HOM	Early adult	0.00
increased KLRG1-positive NK cell number	Cog6^{tm1a(EUCOMM)Wtsi}	HOM	Early adult	0.00
increased memory CD4-positive, CD25-positive, alpha-beta regulatory T cell number	Cog6^{tm1a(EUCOMM)Wtsi}	HOM	Early adult	0.00
increased memory-marker gamma-delta T cell number	Cog6^{tm1a(EUCOMM)Wtsi}	HOM	Early adult	0.00
decreased CD8-positive, naive alpha-beta T cell number	Cog6^{tm1a(EUCOMM)Wtsi}	HOM	Early adult	0.00
increased CD5-positive gamma-delta T cell number	Cog6^{tm1a(EUCOMM)Wtsi}	HOM	Early adult	0.00
decreased marginal zone B cell number	Cog6^{tm1a(EUCOMM)Wtsi}	HOM	Early adult	0.00
decreased memory-marker NK cell number	Cog6^{tm1a(EUCOMM)Wtsi}	HOM	Early adult	0.00
abnormal coat/hair pigmentation	Cog6^{tm1a(EUCOMM)Wtsi}	HOM	Early adult	3.53×10^-05
decreased effector memory CD8-positive, alpha-beta T cell number	Cog6^{tm1a(EUCOMM)Wtsi}	HOM	Early adult	0.00
increased gamma-delta T cell number	Cog6^{tm1a(EUCOMM)Wtsi}	HOM	Early adult	0.00
decreased T-helper cell number	Cog6^{tm1a(EUCOMM)Wtsi}	HOM	Early adult	0.00
increased leukocyte cell number	Cog6^{tm1a(EUCOMM)Wtsi}	HOM	Early adult	3.19×10^-06
decreased transitional stage T2 B cell number	Cog6^{tm1a(EUCOMM)Wtsi}	HOM	Early adult	0.00
decreased Ly6C-positive immature NK cell number	Cog6^{tm1a(EUCOMM)Wtsi}	HOM	Early adult	0.00
decreased bone mineral content	Cog6^{tm1a(EUCOMM)Wtsi}	HOM	Early adult	9.95×10^-06
increased eosinophil cell number	Cog6^{tm1a(EUCOMM)Wtsi}	HOM	Early adult	0.00
decreased mean corpuscular hemoglobin concentration	Cog6^{tm1a(EUCOMM)Wtsi}	HOM	Early adult	1.01×10^-18
increased effector memory T-helper cell number	Cog6^{tm1a(EUCOMM)Wtsi}	HOM	Early adult	0.00
increased monocyte cell number	Cog6^{tm1a(EUCOMM)Wtsi}	HOM	Early adult	0.00
vertebral transformation	Cog6^{tm1a(EUCOMM)Wtsi}	HOM	Early adult	3.38×10^-10
decreased mean corpuscular hemoglobin	Cog6^{tm1a(EUCOMM)Wtsi}	HOM	Early adult	1.94×10^-15
increased circulating aspartate transaminase level	Cog6^{tm1a(EUCOMM)Wtsi}	HOM	Early adult	1.42×10^-12
increased circulating alkaline phosphatase level	Cog6^{tm1a(EUCOMM)Wtsi}	HOM	Early adult	0.00
increased CD4-positive, alpha-beta T cell number	Cog6^{tm1a(EUCOMM)Wtsi}	HOM	Early adult	0.00
decreased erythrocyte cell number	Cog6^{tm1a(EUCOMM)Wtsi}	HOM	Early adult	1.08×10^-07
abnormal bone structure	Cog6^{tm1a(EUCOMM)Wtsi}	HOM	Early adult	5.18×10^-06
increased KLRG1+ CD8 alpha-beta T cell number	Cog6^{tm1a(EUCOMM)Wtsi}	HOM	Early adult	0.00
increased memory-marker NK cell number	Cog6^{tm1a(EUCOMM)Wtsi}	HOM	Early adult	0.00
increased KLRG1+ CD4 alpha-beta T cell number	Cog6^{tm1a(EUCOMM)Wtsi}	HOM	Early adult	0.00
decreased NK T cell number	Cog6^{tm1a(EUCOMM)Wtsi}	HOM	Early adult	0.00
increased KLRG1-positive CD4-positive, CD25-positive, alpha-beta regulatory T cell number	Cog6^{tm1a(EUCOMM)Wtsi}	HOM	Early adult	0.00
decreased hemoglobin content	Cog6^{tm1a(EUCOMM)Wtsi}	HOM	Early adult	5.85×10^-06
decreased CD4-positive NK T cell number	Cog6^{tm1a(EUCOMM)Wtsi}	HOM	Early adult	0.00
decreased memory-marker gamma-delta T cell number	Cog6^{tm1a(EUCOMM)Wtsi}	HOM	Early adult	0.00
decreased hematocrit	Cog6^{tm1a(EUCOMM)Wtsi}	HOM	Early adult	8.85×10^-05
increased Ly6C high monocyte number	Cog6^{tm1a(EUCOMM)Wtsi}	HOM	Early adult	0.00
decreased alpha-beta T cell number	Cog6^{tm1a(EUCOMM)Wtsi}	HOM	Early adult	0.00
increased circulating bilirubin level	Cog6^{tm1a(EUCOMM)Wtsi}	HOM	Early adult	1.33×10^-06
increased mean platelet volume	Cog6^{tm1a(EUCOMM)Wtsi}	HOM	Early adult	6.23×10^-06
increased red blood cell distribution width	Cog6^{tm1a(EUCOMM)Wtsi}	HOM	Early adult	1.64×10^-07
increased circulating total protein level	Cog6^{tm1a(EUCOMM)Wtsi}	HOM	Early adult	1.12×10^-05

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lacZ Expression

Expression data not available

Associated Images

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

Mesenteric Lymph Node Immunophenotyping

Images associated with FACS analysis

155 Images

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Spleen Immunophenotyping

Images associated with FACS analysis

204 Images

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X-ray

XRay Images Whole Body Dorso Ventral

13 Images

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Anti-nuclear antibody assay

Images

14 Images

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X-ray

XRay Images Skull Lateral Orientation

14 Images

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Eye Morphology

Images Slit Lamp

7 Images

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DSS Histology

Images

16 Images

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X-ray

XRay Images Forepaw

15 Images

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X-ray

XRay Images Whole Body Lateral Orientation

13 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

13 Images

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Eye Morphology

Images Ophthalmoscopy

2 Images

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Ear epidermis immunophenotyping

Images

12 Images

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Legacy Phenotype Associated Images

Cog6^{tm1a(EUCOMM)Wtsi}
HOM, Male, WTSI

Cog6^{tm1a(EUCOMM)Wtsi}
HOM, Female, WTSI

View all 68 images

Cog6^{tm1a(EUCOMM)Wtsi}
abnormal cornea morphology, HOM, Female, WTSI

Cog6^{tm1a(EUCOMM)Wtsi}
abnormal cornea morphology, HOM, Male, WTSI

Cog6^{tm1a(EUCOMM)Wtsi}
abnormal cornea morphology, HOM, Female, WTSI

View all 9 images

Cog6^{tm1a(EUCOMM)Wtsi}
abnormal coat/hair pigmentation, HOM, Male, WTSI

Cog6^{tm1a(EUCOMM)Wtsi}
abnormal coat/hair pigmentation, HOM, Female, WTSI

Cog6^{tm1a(EUCOMM)Wtsi}
abnormal tail morphology, kinked tail, HOM, Female, WTSI

View all 6 images

Human diseases caused by Cog6 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 Cog6 (3 diseases)
Human diseases predicted to be associated with Cog6 (789 diseases)

The table below shows human diseases associated to Cog6 by orthology or direct annotation.

Disease	Matching phenotypes	Source
Congenital Disorder Of Glycosylation, Type Iil	Hepatomegaly, Pancytopenia, Elevated circulating creatine kinase concentration, Splenomegaly, Cho...	OMIM:614576
Hypohidrosis-Enamel Hypoplasia-Palmoplantar Keratoderma-Intellectual Disability Syndrome	Hepatitis, Sparse lateral eyebrow	ORPHA:363523
Shaheen Syndrome		OMIM:615328

The table below shows human diseases predicted to be associated to Cog6 by phenotypic similarity.

Disease	Matching phenotypes	Source
Immunodeficiency 79	Decreased proportion of CD4-positive T cells	OMIM:619238
Severe Combined Immunodeficiency Due To Foxn1 Deficiency	Ridged nail, T lymphocytopenia, Nail pits, Congenital alopecia totalis	ORPHA:169095
Hemophagocytic Syndrome Associated With An Infection	Hepatomegaly, Pancytopenia, Hypertriglyceridemia, Splenomegaly, Increased circulating ferritin co...	ORPHA:158048
Immunodeficiency 103, Susceptibility To Fungal Infections	Abnormal B cell count, Decreased serum iron, Hypereosinophilia, Lymphadenopathy, Abnormal proport...	OMIM:212050
Immunodeficiency 15A	Decreased proportion of CD4-positive helper T cells, Decreased proportion of CD8-positive T cells...	OMIM:618204
Ras-Associated Autoimmune Leukoproliferative Disorder	Hemolytic anemia, Pancytopenia, Hepatomegaly, Autoimmunity, Autoimmune thrombocytopenia, Follicul...	OMIM:614470
Immunodeficiency 105	Impaired lymphocyte transformation with phytohemagglutinin, Pancytopenia, Absence of lymph node g...	OMIM:619924
Dysplasia Of Head Of Femur, Meyer Type	Leukocytosis, Multicentric femoral head ossification, Delayed femoral head ossification, Enlarged...	ORPHA:168621
Immunodeficiency 18	Decreased proportion of CD3-positive T cells, Lymphopenia	OMIM:615615
Eosinophilia, Familial	Anemia, Leukocytosis, Eosinophilia, Thrombocytopenia	OMIM:131400
Immunodeficiency 15B	Monocytosis, Reduced natural killer cell count	OMIM:615592
Myalgia-Eosinophilia Syndrome Associated With Tryptophan	Lymphopenia, Eosinophilia	ORPHA:2582
Immunodeficiency 97 With Autoinflammation	Autoimmune hemolytic anemia, Hypertriglyceridemia, Decreased proportion of CD4+CD25+ regulatory T...	OMIM:619802
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease	Acute myeloid leukemia, Pancytopenia, Hypertriglyceridemia, Elevated circulating C-reactive prote...	ORPHA:158057
Lymphoproliferative Syndrome 3	Reduced natural killer cell count, Lymphadenopathy, Hepatosplenomegaly	OMIM:618261
Immunodeficiency 102	Hepatomegaly, Autoimmune thrombocytopenia, Nodular regenerative hyperplasia of liver, Neutropenia...	OMIM:301082
Autoinflammation With Infantile Enterocolitis	Pancytopenia, Elevated circulating C-reactive protein concentration, Splenomegaly, Increased circ...	OMIM:616050
Immunodeficiency 20	Reduced natural killer cell count	OMIM:615707
Acute Myelomonocytic Leukemia	Thrombocytopenia, Leukocytosis, Eosinophilia, Anemia	ORPHA:517
Autoimmune Lymphoproliferative Syndrome	Hepatomegaly, Autoimmune hemolytic anemia, Antiphospholipid antibody positivity, Rheumatoid facto...	OMIM:601859
Immunodeficiency 21	Aplastic anemia, B lymphocytopenia, Neutropenia, Monocytopenia, Myeloid leukemia, Lymphopenia, Re...	OMIM:614172
Agammaglobulinemia 7, Autosomal Recessive	Reduced natural killer cell count, Neutropenia	OMIM:615214
Combined Immunodeficiency, X-Linked	Decreased proportion of CD4-positive helper T cells, Decreased proportion of CD8-positive T cells	OMIM:312863
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To	Acute myeloid leukemia, Refractory anemia, Systemic lupus erythematosus, Leukopenia, Monocytosis,...	OMIM:616871
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome	Abnormal hair quantity, Lymphopenia, Hypoproteinemia	ORPHA:1116
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes	T lymphocytopenia	OMIM:242870
Immunodeficiency 48	Absence of CD8-positive T cells, Splenomegaly, Hepatomegaly	OMIM:269840
Intellectual Developmental Disorder With Speech Delay, Dysmorphic Facies, And T-Cell Abnormalities	Eosinophilia, Thin eyebrow, Abnormally low T cell receptor excision circle level	OMIM:618092
Wiskott-Aldrich Syndrome 2	Decreased proportion of CD8-positive T cells, Thrombocytopenia	OMIM:614493
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy	Impaired lymphocyte transformation with phytohemagglutinin, Hypertriglyceridemia, Increased circu...	OMIM:619313
Lymphangiectasia, Intestinal	Abnormal hair morphology, Intestinal lymphangiectasia, Lymphopenia, Neonatal hypoproteinemia	OMIM:152800
Cernunnos-Xlf Deficiency	Autoimmunity, Anemia, T lymphocytopenia, B lymphocytopenia, Lymphopenia, Thrombocytopenia	ORPHA:169079
Immunodeficiency 57 With Autoinflammation	Perianal abscess, T lymphocytopenia, Reduced natural killer cell count, B lymphocytopenia	OMIM:618108
Neutropenia, Severe Congenital, 1, Autosomal Dominant	Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Monocytosis, Neutropenia, Thr...	OMIM:202700
Autoimmune Lymphoproliferative Syndrome, Type Iia	Rheumatoid factor positive, Iron deficiency anemia, Platelet antibody positive, Increased B cell ...	OMIM:603909
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency	Alopecia, Eosinophilia, Autoimmune thrombocytopenia, Decreased proportion of CD8-positive T cells...	ORPHA:169154
Immunodeficiency 24	Lymphopenia, Decreased proportion of memory B cells, Decreased CD4:CD8 ratio, Reduced proportion ...	OMIM:615897
T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy	Ridged nail, Alopecia, Decreased helper T cell proportion, Nail pits, T lymphocytopenia, Nail dys...	OMIM:601705
Immunodeficiency 14B, Autosomal Recessive	Neutrophilia, Leukocytosis, Monocytosis, B lymphocytopenia, Thrombocytosis	OMIM:619281
Adult Idiopathic Neutropenia	Abnormal neutrophil count, Monocytosis, Neutropenia, Monocytopenia, Antineutrophil antibody posit...	ORPHA:2688
Immunodeficiency 43	Lung abscess, Hypoalbuminemia, Decreased circulating beta-2-microglobulin level, B lymphocytopeni...	OMIM:241600
Autosomal Dominant Severe Congenital Neutropenia	Osteopenia, Acute myeloid leukemia, Aplastic anemia, Eosinophilia, Antineutrophil antibody positi...	ORPHA:486
Immunodeficiency 54	Hepatomegaly, Splenomegaly, Lymphadenopathy, Reduced natural killer cell count, Hyperpigmentation...	OMIM:609981
Immunodeficiency 104	Splenomegaly, Lymphadenopathy, T lymphocytopenia, Hepatomegaly	OMIM:608971
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
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality	Acute myeloid leukemia, Macrocytic anemia, Anisocytosis, Abnormal erythrocyte morphology, Erythro...	ORPHA:86841
Cd8 Deficiency, Familial	Absence of CD8-positive T cells	OMIM:608957
Cinca Syndrome	Eosinophilia, Elevated circulating C-reactive protein concentration, Leukocytosis, Hepatosplenome...	OMIM:607115
Neutropenia, Severe Congenital, 2, Autosomal Dominant	Monocytosis, B lymphocytopenia, Neutropenia	OMIM:613107
Immunodeficiency 85 And Autoimmunity	T lymphocytopenia, Decreased proportion of CD4-positive helper T cells, Lymphopenia, Decreased pr...	OMIM:619510
Immunodeficiency 88	Eosinophilia	OMIM:619630
Refractory Celiac Disease	Normocytic anemia, Macrocytic anemia, Microcytic anemia, Increased proportion of HLA DR+ T cells,...	ORPHA:398063
Malaria	Anemia, Elevated circulating C-reactive protein concentration, Hyperbilirubinemia, Thrombocytopenia	ORPHA:673
Ichthyosis-Prematurity Syndrome	Eosinophilia	ORPHA:88621
Immunodeficiency 19	T lymphocytopenia, Abnormal B cell morphology, Abnormal natural killer cell morphology	OMIM:615617
Aplasia Cutis Congenita With Intestinal Lymphangiectasia	Intestinal lymphangiectasia, Lymphopenia, Hypoproteinemia	OMIM:207731
Thrombocytopenia 2	Leukocytosis, Thrombocytopenia	OMIM:188000
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)	T lymphocytopenia, Hypocalcemia	DECIPHER:16
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive	Leukocytosis, Elevated circulating C-reactive protein concentration, Anemia	OMIM:619398
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency	Hepatomegaly, Abnormal B cell count, Abnormal T cell count, Autoimmune hemolytic anemia, Eosinoph...	ORPHA:331206
Immunodeficiency 32B	Hepatomegaly, Neutrophilia, Eosinophilia, Splenomegaly, Anemia, Impaired oxidative burst, Hypoalb...	OMIM:226990
Juvenile Temporal Arteritis	Leukocytosis, Conjunctivitis, Eosinophilia	ORPHA:26137
Immunodeficiency 25	Autoimmune hemolytic anemia, Eosinophilia, T lymphocytopenia, Smooth muscle antibody positivity, ...	OMIM:610163
Generalized Eruptive Histiocytosis	Hypereosinophilia, Lymphadenopathy, Spotty hyperpigmentation, Leukemia, Histiocytosis	ORPHA:157991
Immunodeficiency 76	Splenomegaly, Lymphadenopathy, T lymphocytopenia, B lymphocytopenia, Lymphopenia	OMIM:619164
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome	Decreased proportion of CD4-positive helper T cells, Decreased proportion of CD8-positive T cells...	OMIM:617241
Diaph1-Related Sensorineural Hearing Loss-Thrombocytopenia Syndrome	Iron deficiency anemia, Thrombocytopenia, Increased mean platelet volume, Neutropenia	ORPHA:494444
Immunodeficiency 91 And Hyperinflammation	Hepatomegaly, Neutrophilia, Elevated circulating C-reactive protein concentration, Hepatosplenome...	OMIM:619644
Immunodeficiency 49	Impaired lymphocyte transformation with phytohemagglutinin, Eosinophilia, T lymphocytopenia, Abno...	OMIM:617237
Combined Immunodeficiency Due To Zap70 Deficiency	Autoimmune hemolytic anemia, Eosinophilia, Autoimmune thrombocytopenia, Absence of CD8-positive T...	ORPHA:911
Congenital Amegakaryocytic Thrombocytopenia	Abnormal hemoglobin, Short neck, Abnormal form of the vertebral bodies, Melanocytic nevus, Anemia...	ORPHA:3319
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections	Decreased proportion of CD4-positive helper T cells, Reduced natural killer cell count, Eosinophilia	OMIM:243700
Infantile Sialic Acid Storage Disease	Osteopenia, Hepatomegaly, Conjugated hyperbilirubinemia, Splenomegaly, Vacuolated lymphocytes, Fa...	OMIM:269920
Autoimmune Lymphoproliferative Syndrome, Type Iii	Increased proportion autoreactive unresponsive CD21-/low B cells, Hepatomegaly, Autoimmune hemoly...	OMIM:615559
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections	Scoliosis, Neutropenia, Lymphopenia, Reduced natural killer cell count, Cutaneous abscess	OMIM:619752
Gaisböck Syndrome	Hypertriglyceridemia, Splenomegaly, Increased mean corpuscular hemoglobin concentration, Hyperpro...	ORPHA:90041
Aicardi-Goutieres Syndrome 2	Lymphocytosis	OMIM:610181
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant	Splenomegaly, Lymphadenopathy, Decreased proportion of class-switched memory B cells, T lymphocyt...	OMIM:615513
Combined Cellular And Humoral Immune Defects With Granulomas	T lymphocytopenia, B lymphocytopenia	OMIM:233650
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency	Reticulocytosis, Anisocytosis, Abnormal erythrocyte morphology, Reduced red cell pyruvate kinase ...	ORPHA:766
Hypereosinophilic Syndrome, Idiopathic	Myeloproliferative disorder, Splenomegaly, Eosinophilia, Hepatomegaly	OMIM:607685
Omenn Syndrome	Hepatomegaly, Alopecia, Severe B lymphocytopenia, Eosinophilia, Splenomegaly, Thrombocytopenia, L...	OMIM:603554
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta	Eosinophilia, Hepatitis, Hepatosplenomegaly, Decreased proportion of CD3-positive T cells, Lympho...	ORPHA:169160
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency	Lymphopenia, Hepatomegaly, Decreased proportion of naive T cells, Jaundice, Lymph node hypoplasia...	ORPHA:276
Neutropenia, Lethal Congenital, With Eosinophilia	Eosinophilia, Neutropenia	OMIM:257100
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss	Leukocyte inclusion bodies, Giant platelets, Macrothrombocytopenia, Neutrophil inclusion bodies, ...	OMIM:155100
Omenn Syndrome	Hepatomegaly, Alopecia, Eosinophilia, Autoimmunity, Splenomegaly, Leukocytosis, Lymphadenopathy, ...	ORPHA:39041
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis	Abnormality of the tonsils, Decreased proportion of CD8-positive T cells, Abnormal thymus morphol...	OMIM:611926
Eosinophilic Gastroenteritis	Eosinophilia, Elevated circulating C-reactive protein concentration, Leukocytosis, Hypoalbuminemi...	ORPHA:2070
Immunodeficiency 8 With Lymphoproliferation	Lymphopenia	OMIM:615401
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency	Autoimmunity, Absence of lymph node germinal center, Anti-thyroid peroxidase antibody positivity,...	ORPHA:277
Myeloproliferative Disorder, Chronic, With Eosinophilia	Eosinophilia, Myeloproliferative disorder	OMIM:131440
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation	Increased proportion of memory T cells, Increased B cell count, Lymphadenopathy, Hepatosplenomegaly	OMIM:618982
Sickle Cell Anemia	Hemolytic anemia, Reticulocytosis, Pigment gallstones, Microcytic anemia, Abnormality of the sple...	ORPHA:232
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1	T lymphocytopenia, Reduced natural killer cell count	OMIM:242860
Nevoid Hypermelanosis, Linear And Whorled	Hyperpigmented streaks, Eosinophilia	OMIM:614323
Hermansky-Pudlak Syndrome 2	Aberrant melanosome maturation, Hepatomegaly, Absent platelet dense granules, Fair hair, Decrease...	OMIM:608233
Glutathione Peroxidase Deficiency	Heinz bodies, Neonatal hyperbilirubinemia, Compensated hemolytic anemia	OMIM:614164
Primary Intestinal Lymphangiectasia	Hypoproteinemia, Peritoneal effusion, Abnormal lymphatic vessel morphology, Hypoalbuminemia, Hypo...	ORPHA:90362
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation	Hepatomegaly, Generalized lymphadenopathy, Aplasia of the thymus, Eosinophilia, Splenomegaly, Lym...	OMIM:602450
Pelger-Huet Anomaly	Abnormality of neutrophils, Kyphosis, Hyposegmentation of neutrophil nuclei, Giant platelets, Neu...	OMIM:169400
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency	Reticulocytosis, Anisocytosis, Splenomegaly, Leukocytosis, Jaundice, Prolonged neonatal jaundice,...	OMIM:300908
Hyper-Ige Syndrome 4B, Autosomal Recessive, With Recurrent Infections	Thoracolumbar scoliosis, Eosinophilia, Craniosynostosis, Keratitis, Scoliosis	OMIM:618523
Hemophagocytic Lymphohistiocytosis, Familial, 1	Hyponatremia, Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Increa...	OMIM:267700
Hyperbilirubinemia, Shunt, Primary	Reticulocytosis, Hepatomegaly, Anemia of inadequate production, Splenomegaly, Jaundice, Hyperbili...	OMIM:237800
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 1	Eosinophilia, Elevated circulating creatine kinase concentration	OMIM:253600
Idiopathic Chronic Eosinophilic Pneumonia	Leukocytosis, Hypereosinophilia, Autoimmunity, Elevated circulating C-reactive protein concentration	ORPHA:2902
Myh9-Related Disease	Increased mean platelet volume, Giant platelets, Neutrophil inclusion bodies, Presenile cataracts...	ORPHA:182050
Immunodeficiency 7	Hepatomegaly, Autoimmune hemolytic anemia, Autoimmunity, Splenomegaly, Hypereosinophilia, Lymphad...	OMIM:615387
Pgm3-Cdg	Hemolytic anemia, Abnormal proportion of CD8-positive T cells, Eosinophilia, Rheumatoid factor po...	ORPHA:443811
Hemoglobin E-Beta-Thalassemia Syndrome	Increased circulating ferritin concentration, Abnormal hemoglobin, Anemia	ORPHA:231249
Immunodeficiency 11A	Monocytopenia, Decreased proportion of CD4+CD25+ regulatory T cells	OMIM:615206
Slc35A1-Cdg	Giant platelets, Abnormal platelet granules, Thrombocytopenia, Neutropenia	ORPHA:238459
Macrophage Activation Syndrome	Hepatomegaly, Hypertriglyceridemia, Autoimmunity, Elevated circulating C-reactive protein concent...	ORPHA:158061
Thrombocytopenia With Beta-Thalassemia, X-Linked	Hemolytic anemia, Reticulocytosis, Increased RBC distribution width, Reduced platelet alpha granu...	OMIM:314050
Relapsing Fever	Neutrophilia, Elevated circulating C-reactive protein concentration, Leukocytosis, Jaundice, Elev...	ORPHA:91547
Hepatoportal Sclerosis	Portal hypertension, Nodular regenerative hyperplasia of liver, Hypersplenism, Splenomegaly, Port...	ORPHA:64743
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells	Hypersplenism, Splenomegaly, Pancytopenia, Decreased helper T cell proportion	OMIM:183350
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities	Eosinophilia, Kyphoscoliosis, Platyspondyly, Delayed ossification of carpal bones, Cervical insta...	OMIM:617425
Hemolytic Anemia Due To Glutathione Reductase Deficiency	Cataract, Hyperbilirubinemia, Fava bean-induced hemolytic anemia	OMIM:618660
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome	Hemolytic anemia, Autoimmune hemolytic anemia, Autoimmunity, Autoimmune thrombocytopenia, Splenom...	ORPHA:444463
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency	Hypopigmentation of hair, Partial albinism, Neutropenia	ORPHA:90023
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections	Osteopenia, Eosinophilia, Craniosynostosis, Scoliosis, Cutaneous abscess	OMIM:147060
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2	Elevated circulating C-reactive protein concentration, Perianal abscess, Iron deficiency anemia, ...	OMIM:301074
Neutropenia, Severe Congenital, X-Linked	Monocytopenia, Decreased CD4:CD8 ratio, Neutropenia	OMIM:300299
B-Cell Expansion With Nfkb And T-Cell Anergy	Splenomegaly, Increased B cell count	OMIM:616452
Griscelli Syndrome, Type 2	Accumulation of melanosomes in melanocytes, Silver-gray hair, Hepatosplenomegaly, Hemophagocytosi...	OMIM:607624
Multiple Myeloma	Osteopenia, Hypercalcemia, Splenomegaly, Elevated circulating creatinine concentration, Lymphaden...	ORPHA:29073
Bleeding Disorder, Platelet-Type, 24	Increased mean platelet volume, Thrombocytopenia, Impaired ADP-induced platelet aggregation, Plat...	OMIM:619271
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive	T lymphocytopenia, Conjunctivitis, B lymphocytopenia	OMIM:601457
Immunodeficiency 13	Lymphopenia, T lymphocytopenia, B lymphocytopenia, Decreased proportion of CD4-positive helper T ...	OMIM:615518
Dyskeratosis Congenita, Autosomal Recessive 8	Sparse scalp hair, Pancytopenia, B lymphocytopenia, Bone marrow hypocellularity, Nail dystrophy, ...	OMIM:620133
Anemia, Congenital Dyserythropoietic, Type Ib	Reticulocytosis, Hepatomegaly, Anisocytosis, Anemia of inadequate production, Splenomegaly, Jaund...	OMIM:615631
Platelet Glycoprotein Iv Deficiency	Giant platelets, Thrombocytopenia	OMIM:608404
Bleeding Disorder, Platelet-Type, 16	Giant platelets, Macrothrombocytopenia, Platelet anisocytosis, Anemia, Impaired platelet aggregat...	OMIM:187800
Hemophagocytic Lymphohistiocytosis, Familial, 2	Hyponatremia, Hepatomegaly, Pancytopenia, Hypertriglyceridemia, Splenomegaly, Increased circulati...	OMIM:603553
Wolcott-Rallison Syndrome	Hyponatremia, Hepatomegaly, Jaundice, Hyperammonemia, Iron deficiency anemia, Abnormality of the ...	ORPHA:1667
Immunodeficiency 52	Decreased proportion of CD4-positive T cells, Autoimmune thrombocytopenia, Splenomegaly, Increase...	OMIM:617514
Progressive Multifocal Leukoencephalopathy	Decreased proportion of CD8-positive T cells, Abnormal proportion of CD4-positive T cells	ORPHA:217260
Red Cell Phospholipid Defect With Hemolysis	Splenomegaly, Reticulocytosis, Hyperbilirubinemia, Intermittent jaundice	OMIM:179700
Immunodeficiency 50	Lymphopenia, Neutropenia	OMIM:300988
Dengue Fever	Leukopenia, Hypoproteinemia, Thrombocytopenia, Hepatomegaly	ORPHA:99828
Giant platelet syndrome with thrombocytopenia	Giant platelets, Thrombocytopenia	OMIM:137560
Syndromic Diarrhea	Hepatomegaly, Hypopigmentation of hair, Brittle hair, Increased mean platelet volume, Splenomegal...	ORPHA:84064
Roifman Syndrome	Biconvex vertebral bodies, Eosinophilia, Hyperconvex nail, Delayed proximal femoral epiphyseal os...	ORPHA:353298
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia	Decreased proportion of CD4-positive T cells, Autoimmune thrombocytopenia, Splenomegaly, Mediasti...	OMIM:300853
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency	Lymphopenia, Hypoplasia of the thymus	OMIM:200900
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies	Osteopenia, Hyperlordosis, Abnormal T cell subset distribution, Low posterior hairline, B lymphoc...	ORPHA:221139
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia	Elevated circulating C-reactive protein concentration, Antinuclear antibody positivity, Cervical ...	OMIM:617718
Bleeding Disorder, Platelet-Type, 15	Thrombocytopenia, Platelet anisocytosis, Increased mean platelet volume	OMIM:615193
Immunodeficiency 17	Decreased proportion of CD8-positive T cells, Autoimmune hemolytic anemia, Abnormal B cell morpho...	OMIM:615607
Immunodeficiency 69	Pancytopenia, Splenomegaly, Leukocytosis, Increased circulating ferritin concentration, Hepatospl...	OMIM:618963
Immunodeficiency 23	Hemolytic anemia, Rheumatoid factor positive, Eosinophilia, Abscess, Scoliosis, Neutropenia, Lymp...	OMIM:615816
Roifman Syndrome	Hepatomegaly, Biconvex vertebral bodies, Eosinophilia, Splenomegaly, Prominent eyelashes, Lymphad...	OMIM:616651
Macrothrombocytopenia, Isolated, 2, Autosomal Dominant	Macrothrombocytopenia	OMIM:619840
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency	Hepatomegaly, Elevated circulating creatine kinase concentration, Splenomegaly, Leukocytosis, Lym...	OMIM:615895
Immunodeficiency 68	Abscess, Lymphadenitis, T lymphocytopenia, B lymphocytopenia, Abnormal natural killer cell count	OMIM:612260
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked	Alopecia, Eosinophilia, Autoimmune thrombocytopenia, Hepatitis, Lymphadenopathy, Anemia, Coombs-p...	OMIM:304790
Sitosterolemia 1	Reticulocytosis, Hyperapobetalipoproteinemia, Thrombocytopenia, Splenomegaly, Giant platelets, El...	OMIM:210250
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia	Pancytopenia, Generalized lymphadenopathy, Impaired neutrophil chemotaxis, Lymphadenitis, Neutrop...	OMIM:618986
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency	Osteopenia, Autoimmunity, Absent peripheral lymph nodes in presence of infection, Increased T cel...	ORPHA:98813
Bernard-Soulier Syndrome	Impaired ristocetin-induced platelet aggregation, Giant platelets, Macrothrombocytopenia, Thrombo...	OMIM:231200
Autoimmune Lymphoproliferative Syndrome	Rheumatoid factor positive, Lymphocytosis, Increased B cell count, Elevated proportion of CD4-neg...	ORPHA:3261
Acquired Partial Lipodystrophy	Autoimmunity, Hepatic steatosis, Lymphocytosis, Generalized hirsutism	ORPHA:79087
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative	Impaired lymphocyte transformation with phytohemagglutinin, Absent natural killer cells, Absent p...	OMIM:600802
Thrombocytopenia With Congenital Dyserythropoietic Anemia	Anisocytosis, Anemia of inadequate production, Macrothrombocytopenia, Poikilocytosis, Hypochromic...	ORPHA:67044
Systemic Lupus Erythematosus 17	Alopecia, Autoimmune thrombocytopenia, Antinuclear antibody positivity, Systemic lupus erythemato...	OMIM:301080
Bleeding Disorder, Platelet-Type, 21	Alopecia, Increased mean platelet volume, Impaired ADP-induced platelet aggregation, Impaired pla...	OMIM:617443
Cyclic Neutropenia	Cyclic neutropenia, Perianal abscess, Cervical lymphadenopathy, Peritonitis, Recurrent tonsilliti...	ORPHA:2686
Autoinflammation With Arthritis And Dyskeratosis	Hepatomegaly, Autoimmune hemolytic anemia, Elevated circulating C-reactive protein concentration,...	OMIM:617388
Immunodeficiency 95	Lymphopenia	OMIM:619773
Persistent Polyclonal B-Cell Lymphocytosis	Splenomegaly, Lymphocytosis, Hepatomegaly	OMIM:606445
Combined Immunodeficiency Due To Dock8 Deficiency	T lymphocytopenia, B lymphocytopenia	ORPHA:217390
Anemia, Sideroblastic, 3, Pyridoxine-Refractory	Hepatomegaly, Anisocytosis, Conjugated hyperbilirubinemia, Splenomegaly, Increased circulating fe...	OMIM:616860
Combined Immunodeficiency Due To Partial Rag1 Deficiency	Autoimmune hemolytic anemia, Autoimmunity, Splenomegaly, Neutropenia in presence of anti-neutropi...	ORPHA:231154
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency	Hepatomegaly, Autoimmune hemolytic anemia, Severe B lymphocytopenia, Aplasia of the thymus, Eosin...	OMIM:102700
Anemia, Congenital Dyserythropoietic, Type Iv	Decreased hemoglobin concentration, Hemolytic anemia, Circulating nucleated red blood cells, Reti...	OMIM:613673
Immunodeficiency 11B With Atopic Dermatitis	Eosinophilia	OMIM:617638
Eosinophilopenia	Decreased eosinophil count, Autoimmunity	OMIM:131430
Systemic Mastocytosis With Associated Hematologic Neoplasm	Normocytic anemia, Acute myeloid leukemia, Hepatomegaly, Neutrophilia, Eosinophilia, Splenomegaly...	ORPHA:98849
Immunodeficiency By Defective Expression Of Mhc Class Ii	Pancytopenia, Autoimmune hemolytic anemia, Autoimmunity, Chronic hepatitis due to cryptosporidium...	ORPHA:572
Acute Peripheral Arterial Occlusion	Leukocytosis	ORPHA:90064
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency	Impaired lymphocyte transformation with phytohemagglutinin, Absent natural killer cells, Hepatosp...	ORPHA:35078
Immunodeficiency 26 With Or Without Neurologic Abnormalities	T lymphocytopenia, B lymphocytopenia, Abnormal natural killer cell morphology	OMIM:615966
Hemoglobin D Disease	Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A...	ORPHA:90039
Igg4-Related Aortitis	Low back pain, Autoimmunity, Elevated circulating C-reactive protein concentration, Antinuclear a...	ORPHA:449400
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias	Decreased proportion of CD4+CD25+ regulatory T cells, Follicular hyperplasia, Autoimmune thromboc...	OMIM:619846
Neutrophil Immunodeficiency Syndrome	Leukocytosis, Abnormality of neutrophil physiology	ORPHA:183707
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked	Thrombocytopenia, Increased mean platelet volume	OMIM:300048
Cholestasis, Progressive Familial Intrahepatic, 12	Hepatomegaly, Conjugated hyperbilirubinemia, Splenomegaly, Jaundice, Cholestasis, Increased serum...	OMIM:620010
Severe Combined Immunodeficiency, X-Linked	Impaired lymphocyte transformation with phytohemagglutinin, T lymphocytopenia, Hypoplasia of the ...	OMIM:300400
Lymphoproliferative Syndrome 1	Hepatomegaly, Pancytopenia, Autoimmune hemolytic anemia, Autoimmunity, Elevated circulating C-rea...	OMIM:613011
Kimura Disease	Lymphadenopathy, Eosinophilia, Follicular hyperplasia	ORPHA:482
Chédiak-Higashi Syndrome	Large clumps of pigment irregularly distributed along hair shaft, Vacuolated lymphocytes, Neutrop...	ORPHA:167
Megaloblastic Anemia, Folate-Responsive	Folate-responsive megaloblastic anemia, Increased circulating ferritin concentration, Schistocyto...	OMIM:601775
Harderoporphyria	Hemolytic anemia, Reticulocytosis, Hepatomegaly, Splenomegaly, Increased circulating ferritin con...	OMIM:618892
Eosinophilic Fasciitis	Abnormal eosinophil morphology, Eosinophilia	ORPHA:3165
Myeloproliferative Syndrome, Transient	Leukocytosis, Transient myeloproliferative syndrome	OMIM:159595
Neutropenia, Severe Congenital, 4, Autosomal Recessive	Hepatomegaly, Intermittent thrombocytopenia, Perianal abscess, Erythroid hypoplasia, Thrombocytop...	OMIM:612541
Osteopetrosis, Autosomal Recessive 5	Hepatomegaly, Increased bone mineral density, Extramedullary hematopoiesis, Pancytopenia, Thrombo...	OMIM:259720
Immunodeficiency 55	Absent natural killer cells, Lymphopenia, Lymphadenopathy, Neutropenia	OMIM:617827
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome	Hepatomegaly, Splenomegaly, Persistence of hemoglobin F, Abnormal bone structure, Anemia	ORPHA:46532
Bone Marrow Failure Syndrome 6	Osteopenia, Persistence of hemoglobin F, Increased mean corpuscular volume, Bone marrow hypocellu...	OMIM:618849
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia	Cervical lymphadenopathy, B lymphocytopenia, Abnormally low T cell receptor excision circle level	OMIM:618987
Selective Igm Deficiency	Decreased proportion of CD4-positive T cells, Autoimmunity, Hashimoto thyroiditis, Autoimmune thr...	ORPHA:331235
Congenital Erythropoietic Porphyria	Osteopenia, Anisocytosis, Abnormal circulating porphyrin concentration, Scarring alopecia of scal...	ORPHA:79277
Hemochromatosis, Type 3	Hyperpigmentation of the skin, Increased circulating ferritin concentration, Elevated transferrin...	OMIM:604250
Hemoglobin-Delta locus	Imbalanced hemoglobin synthesis, Anemia	OMIM:142000
Epidermodysplasia Verruciformis, Susceptibility To, 5	T lymphocytopenia, Lymphopenia	OMIM:618309
Drug Reaction With Eosinophilia And Systemic Symptoms	Eosinophilia, Hepatitis, Lymphocytosis, Lymphadenopathy	ORPHA:139402
Wells Syndrome	Eosinophilia	ORPHA:901
Autoimmune Disease, Multisystem, Infantile-Onset, 2	Impaired lymphocyte transformation with phytohemagglutinin, Increased CD4:CD8 ratio, Autoimmunity	OMIM:617006
Thrombocytopenia 4	Abnormal platelet volume, Thrombocytopenia	OMIM:612004
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis	Lymphopenia, Autoimmune hemolytic anemia, Plasmacytosis	OMIM:247800
Proteasome-Associated Autoinflammatory Syndrome 2	Increased CD4:CD8 ratio, Elevated circulating C-reactive protein concentration, Antinuclear antib...	OMIM:618048
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome	Hepatomegaly, Sacral dimple, Lumbar hyperlordosis, Craniosynostosis, Increased intervertebral spa...	ORPHA:508533
Immunodeficiency 82 With Systemic Inflammation	Decreased proportion of naive T cells, Osteomalacia, Elevated circulating C-reactive protein conc...	OMIM:619381
Peeling Skin Syndrome 1	Nail dystrophy, Brittle hair, Onycholysis, Eosinophilia	OMIM:270300
Cystic Echinococcosis	Abnormal peritoneum morphology, Hepatomegaly, Eosinophilia, Abscess, Hepatic cysts, Abnormality o...	ORPHA:400
Incontinentia Pigmenti	Ridged nail, Hemivertebrae, Abnormality of skin pigmentation, Coarse hair, Sparse hair, Atrophic,...	OMIM:308300
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections	Alopecia, Eosinophilia, Spinal canal stenosis, Cutaneous abscess, Sterile abscess	OMIM:618282
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome	Abnormal hemoglobin, Splenomegaly, Thrombocytopenia, Abnormal platelet function, Anemia	ORPHA:231393
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome	Hepatomegaly, Pancytopenia, Abnormal lymphocyte count, Portal hypertension, Absence of lymph node...	ORPHA:79124
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia	Macrocytic anemia, Pancytopenia, Autoimmunity, Anemia of inadequate production, Megaloblastic ane...	OMIM:617780
Immunodeficiency 64 With Lymphoproliferation	Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of CD4-pos...	OMIM:618534
Immunodeficiency 27A	Rheumatoid factor positive, Splenomegaly, Leukocytosis, Hepatosplenomegaly, Lymphadenopathy, Enla...	OMIM:209950
Anemia, Congenital Dyserythropoietic, Type Ia	Hemolytic anemia, Reticulocytosis, Hepatomegaly, Anemia of inadequate production, Anisocytosis, S...	OMIM:224120
Juvenile Arthritis	Antinuclear antibody positivity, Thrombocytosis, Leukocytosis	OMIM:618795
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis	Hemolytic anemia, Reticulocytosis, Hepatomegaly, Anisocytosis, Microvesicular hepatic steatosis, ...	OMIM:618278
Esophagitis, Eosinophilic, 2	Eosinophilia	OMIM:613412
Esophagitis, Eosinophilic, 1	Eosinophilia	OMIM:610247
Immunodeficiency 84	Perianal abscess, Splenomegaly, B lymphocytopenia	OMIM:619437
Burkitt Lymphoma	Abnormality of the spleen, Abnormality of the pancreas, Abnormal lymph node morphology, Abnormali...	ORPHA:543
Trichohepatoenteric Syndrome 1	Brittle hair, Hypoalbuminemia, Hepatic fibrosis, Sparse hair, Hepatomegaly, Increased mean platel...	OMIM:222470
Familial Cold Autoinflammatory Syndrome 2	Splenomegaly, Leukocytosis, Elevated circulating C-reactive protein concentration, Lymphadenopathy	OMIM:611762
Ataxia-Telangiectasia	Hypopigmentation of hair, Premature graying of hair, Multiple cafe-au-lait spots, Lymphopenia, Ap...	ORPHA:100
Progressive Microcephaly-Seizures-Cortical Blindness-Developmental Delay Syndrome	Decreased proportion of CD4-positive T cells	ORPHA:477814
Iron-Refractory Iron Deficiency Anemia	Elevated circulating hepcidin concentration, Poikilocytosis, Hypochromic microcytic anemia, Aniso...	OMIM:206200
Reticular Dysgenesis	Leukopenia, Congenital agranulocytosis, Lymphopenia, Hypoplasia of the thymus	OMIM:267500
Aspergillosis	Eosinophilia, Keratitis, Hepatitis, Abnormality of the vertebral column, Neutropenia	ORPHA:1163
Polycythemia Vera	Splenomegaly, Leukocytosis, Increased hemoglobin, Increased red blood cell mass, Increased hemato...	OMIM:263300
Thalassemia, Beta+, Silent Allele	Reduced beta/alpha synthesis ratio	OMIM:187550
Spondyloenchondrodysplasia With Immune Dysregulation	Lumbar hyperlordosis, Hypermelanotic macule, Kyphoscoliosis, Autoimmune thrombocytopenia, Increas...	OMIM:607944
Glycogen Storage Disease Vii	Hemolytic anemia, Reticulocytosis, Elevated circulating creatine kinase concentration, Jaundice, ...	OMIM:232800
Mu-Heavy Chain Disease	Hepatomegaly, Abnormal B cell count, Splenomegaly, Osteoporosis, Osteolysis, Lymphadenopathy, Anemia	ORPHA:100024
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin	Oval macrocytosis, Anisocytosis, Poikilocytosis, Anemia of inadequate production	OMIM:603529
Cholestasis, Progressive Familial Intrahepatic, 10	Hepatomegaly, Conjugated hyperbilirubinemia, Splenomegaly, Jaundice, Acholic stools, Portal fibro...	OMIM:619868
Lathosterolosis	Cataract, Bilobate gallbladder, Increased mean platelet volume, Acanthocytosis, Lumbosacral menin...	OMIM:607330
Acute Generalized Exanthematous Pustulosis	Neutrophilia, Eosinophilia, Leukocytosis, Cholestasis, Lymphadenopathy, Conjunctivitis, Neutropen...	ORPHA:293173
Rh Deficiency Syndrome	Hemolytic anemia, Macrocytic anemia, Reticulocytosis, Anisocytosis, Positive direct antiglobulin ...	ORPHA:71275
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy	Hepatomegaly, Iron deficiency anemia, Hypoalbuminemia, Thrombocytosis, Intestinal lymphangiectasi...	OMIM:226300
Hereditary Folate Malabsorption	Pancytopenia, Eosinophilia, Thrombocytopenia, Megaloblastic anemia	ORPHA:90045
O'Sullivan-Mcleod Syndrome	Eosinophilia	ORPHA:99965
Immunodeficiency 40	Hepatomegaly, Eosinophilic granuloma, T lymphocytopenia, Macrovesicular hepatic steatosis, Thromb...	OMIM:616433
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity	Hemolytic anemia, Autoimmune hemolytic anemia, Decreased proportion of CD4+CD25+ regulatory T cel...	OMIM:606367
Congenital Disorder Of Glycosylation, Type Iig	Osteopenia, Thoracic scoliosis, Kyphoscoliosis, Short neck, Giant platelets, Anemia, Vertebral se...	OMIM:611209
Schnitzler Syndrome	Hepatomegaly, Increased bone mineral density, Splenomegaly, Leukocytosis, Lymphadenopathy, Anemia	ORPHA:37748
Autoinflammatory Syndrome, Familial, Behcet-Like 1	Hemolytic anemia, Antinuclear antibody positivity, Lupus anticoagulant, Lymphopenia, Thrombocytop...	OMIM:616744
Acquired Idiopathic Sideroblastic Anemia	Normocytic anemia, Acute myeloid leukemia, Pancytopenia, Hepatomegaly, Abnormal fingernail morpho...	ORPHA:75564
Fetal Hemoglobin Quantitative Trait Locus 1	Persistence of hemoglobin F	OMIM:141749
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency	Decreased hemoglobin concentration, Hemolytic anemia, Hyperbilirubinemia, Reticulocytosis	ORPHA:713
Congenital Dyserythropoietic Anemia Type Iii	Anisocytosis, Abnormal erythrocyte morphology, Increased mean corpuscular volume, Increased serum...	ORPHA:98870
Alpha-Thalassemia-Myelodysplastic Syndrome	Microcytic anemia, Splenomegaly, Acute leukemia, Neutropenia, HbH hemoglobin, Thrombocytopenia	ORPHA:231401
Late-Onset Isolated Acth Deficiency	Normocytic anemia, Hyponatremia, Macrocytic anemia, Eosinophilia, Hypercalcemia, Autoimmunity, Hy...	ORPHA:199299
Dehydrated Hereditary Stomatocytosis 2	Hemolytic anemia, Reticulocytosis, Hepatomegaly, Acanthocytosis, Splenomegaly, Jaundice, Increase...	OMIM:616689
Bile Acid Synthesis Defect, Congenital, 5	Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Iron deficiency anemia, Portal fibrosi...	OMIM:616278
Idiopathic Acute Eosinophilic Pneumonia	Abnormal eosinophil morphology	ORPHA:724
Wiskott-Aldrich Syndrome	Impaired lymphocyte transformation with phytohemagglutinin, Autoimmune hemolytic anemia, Absent m...	OMIM:301000
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities	Macrocytic anemia, Anisocytosis, Elliptocytosis, Bone marrow hypocellularity, Poikilocytosis, Neu...	OMIM:300835
Lymphoproliferative Syndrome, X-Linked, 1	Hepatomegaly, Pancytopenia, Aplastic anemia, Elevated circulating C-reactive protein concentratio...	OMIM:308240
Autosomal Dominant Hyper-Ige Syndrome	Osteopenia, Eosinophilia, Craniosynostosis, Abnormal hair morphology, Paronychia, Scoliosis, Dyst...	ORPHA:2314
Immunodeficiency 89 And Autoimmunity	Rheumatoid factor positive, Elevated circulating C-reactive protein concentration, Antinuclear an...	OMIM:619632
Agammaglobulinemia 3, Autosomal Recessive	Neutropenia, Absent circulating B cells, Abnormal T cell morphology	OMIM:613501
Purine Nucleoside Phosphorylase Deficiency	Autoimmune hemolytic anemia, Hypouricemia, Autoimmunity, Autoimmune thrombocytopenia, Abnormal T ...	ORPHA:760
Griscelli Syndrome Type 2	Hepatomegaly, Pancytopenia, Hypopigmentation of hair, Partial albinism, Splenomegaly, Hyperlipide...	ORPHA:79477
Dehydrated Hereditary Stomatocytosis	Hemolytic anemia, Reticulocytosis, Macrocytic anemia, Neonatal hyperbilirubinemia, Anemia of inad...	ORPHA:3202
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome	Abscess, Abnormal CD4:CD8 ratio, Splenomegaly, Neutropenia, Lymphadenopathy, B lymphocytopenia, I...	OMIM:150550
Reynolds Syndrome	Calcinosis, Hepatomegaly, Antinuclear antibody positivity, Splenomegaly, Jaundice, Biliary cirrho...	OMIM:613471
Progeria-Short Stature-Pigmented Nevi Syndrome	Osteopenia, Neoplasm of the pancreas, Thoracic scoliosis, Alopecia, Cataract, Microcytic anemia, ...	ORPHA:2959
Immunodeficiency 109 With Lymphoproliferation	Pancytopenia, Generalized lymphadenopathy, Hypertriglyceridemia, Splenomegaly, Absent circulating...	OMIM:620282
Immunodeficiency 70	Decreased proportion of CD4-positive helper T cells, B lymphocytopenia	OMIM:618969
T-Cell Immunodeficiency With Thymic Aplasia	Aplasia of the thymus, Hepatosplenomegaly, T lymphocytopenia, Abnormally low T cell receptor exci...	OMIM:242700
Autoinflammation, Immune Dysregulation, And Eosinophilia	Eosinophilic liver infiltration, Eosinophilia, Hepatic cysts, Hepatosplenomegaly	OMIM:618999
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant	Hemolytic anemia, Increased mean platelet volume, Impaired ristocetin-induced platelet aggregatio...	OMIM:153670
Immunodeficiency 44	Lymphopenia	OMIM:616636
Muckle-Wells Syndrome	Leukocytosis, Conjunctivitis, Elevated circulating C-reactive protein concentration, Conjunctival...	OMIM:191900
Dominant Beta-Thalassemia	Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, Hyperpigmentat...	ORPHA:231226
Pyruvate Kinase Deficiency Of Red Cells	Reticulocytosis, Decreased hemoglobin concentration, Hepatomegaly, Reduced red cell pyruvate kina...	OMIM:266200
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity	Hepatomegaly, Autoimmune hemolytic anemia, Autoimmunity, Splenomegaly, Lymphadenopathy, Decreased...	OMIM:618495
Noonan Syndrome 12	Lymphopenia, Spinal canal stenosis, Thrombocytopenia	OMIM:618624
Takenouchi-Kosaki Syndrome	Highly arched eyebrow, Increased mean platelet volume, Sparse eyebrow, Synophrys, Scoliosis, Thro...	OMIM:616737
Unclassified Myelodysplastic Syndrome	Acute myeloid leukemia, Leukocytosis, Autoimmunity, Bone marrow hypocellularity	ORPHA:98827
Agammaglobulinemia 8A, Autosomal Dominant	B lymphocytopenia	OMIM:616941
Caroli Syndrome	Hepatomegaly, Cholangiocarcinoma, Liver abscess, Cholangitis, Portal hypertension, Hypersplenism,...	ORPHA:480520
Immunodeficiency 62	Increased proportion of transitional B cells, Decreased proportion of memory B cells, B lymphocyt...	OMIM:618459
Netherton Syndrome	Sparse scalp hair, Brittle hair, Brittle scalp hair, Sparse eyebrow, Hypereosinophilia	OMIM:256500
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia	Hepatomegaly, Splenomegaly, Reduced bone mineral density, Leukopenia, Lymphopenia	OMIM:620210
Methemoglobinemia, Beta Type	Methemoglobinemia	OMIM:617971
Methemoglobinemia, Alpha Type	Methemoglobinemia	OMIM:617973
Diffuse Alveolar Hemorrhage	Antiphospholipid antibody positivity, Rheumatoid factor positive, Autoimmunity, Antinuclear antib...	ORPHA:90060
Leptospirosis	Hepatomegaly, Jaundice, Hepatitis, Lymphadenopathy, Hyperproteinemia, Conjunctival hyperemia, Thr...	ORPHA:509
Hereditary Elliptocytosis	Hemolytic anemia, Reticulocytosis, Abnormal erythrocyte morphology, Splenomegaly, Jaundice, Prolo...	ORPHA:288
Familial Cold Autoinflammatory Syndrome 1	Leukocytosis, Conjunctivitis, Elevated circulating C-reactive protein concentration	OMIM:120100
Hereditary Spherocytosis	Reticulocytosis, Hepatomegaly, Spontaneous hemolytic crises, Extramedullary hematopoiesis, Spleno...	ORPHA:822
Alveolar Echinococcosis	Low back pain, Liver abscess, Eosinophilia, Cholangitis, Portal hypertension, Hepatic cysts, Panc...	ORPHA:284
Hemoglobin H Disease	Hemolytic anemia, Hepatomegaly, Splenomegaly, Reduced alpha/beta synthesis ratio, HbH hemoglobin	OMIM:613978
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency	Normocytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Normochromic anemia, Cholecystitis, H...	OMIM:235700
Immunoglobulin A Deficiency 2	Abnormal lymphocyte morphology, Autoimmunity	OMIM:609529
Aregenerative Anemia	Pancytopenia, Erythroid hypoplasia, Reticulocytopenia, Lymphadenopathy, Bone marrow hypocellulari...	ORPHA:101096
Hemophagocytic Lymphohistiocytosis, Familial, 3	Hypertriglyceridemia, Hepatosplenomegaly, Hemophagocytosis, Granulocytopenia, Anemia	OMIM:608898
Bleeding Disorder, Platelet-Type, 19	Thrombocytopenia, Macrothrombocytopenia, Anemia	OMIM:616176
Agammaglobulinemia 8B, Autosomal Recessive	Pancytopenia, Splenomegaly, Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, B Acu...	OMIM:619824
Mucoepithelial Dysplasia, Hereditary	Alopecia, Cataract, Eosinophilia, Keratoconjunctivitis, Coarse hair, Nail dystrophy, Nail dysplas...	OMIM:158310
Adenosine Deaminase, Elevated, Hemolytic Anemia Due To	Hemolytic anemia, Reticulocytosis, Stomatocytosis, Reduced erythrocyte adenosine triphosphate con...	OMIM:301083
Pseudo-Torch Syndrome 3	Increased circulating ferritin concentration, Leukocytosis, Lymphadenitis, Congenital thrombocyto...	OMIM:618886
Transcobalamin Deficiency	Pancytopenia, Lymphopenia, Thrombocytopenia, Neutropenia	ORPHA:859
Immunodeficiency 81	Decreased proportion of CD4-positive T cells, Recurrent cutaneous abscess formation, Autoimmune h...	OMIM:619374
X-Linked Severe Congenital Neutropenia	Monocytopenia, Neutropenia	ORPHA:86788
Griscelli Syndrome	Hepatomegaly, Abnormal eyebrow morphology, Abnormality of neutrophils, Abnormal eyelash morpholog...	ORPHA:381
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1	Hepatomegaly, Anisocytosis	OMIM:604273
Spherocytosis, Type 4	Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Hyperbilirubinemia	OMIM:612653
Refractory Anemia With Excess Blasts	Acute myeloid leukemia, Abnormal circulating protein concentration, Anemia of inadequate producti...	ORPHA:86839
Incontinentia Pigmenti	Alopecia, Cataract, Abnormal fingernail morphology, Eosinophilia, Supernumerary nipple, Corneal o...	ORPHA:464
Overhydrated Hereditary Stomatocytosis	Hemolytic anemia, Reticulocytosis, Decreased mean corpuscular hemoglobin concentration, Anisocyto...	ORPHA:3203
Acute Monoblastic/Monocytic Leukemia	Acute monocytic leukemia, Leukocytosis, Cervical lymphadenopathy, Lymphocytosis, Hypochromic anem...	ORPHA:514
Cinca Syndrome	Hepatomegaly, Abnormality of thrombocytes, Abnormality of neutrophils, Elevated circulating C-rea...	ORPHA:1451
Beta-Thalassemia Intermedia	Osteopenia, Increased HbA2 hemoglobin, Hepatomegaly, Extramedullary hematopoiesis, Anemia of inad...	ORPHA:231222
Leukodystrophy, Hypomyelinating, 24	Cataract, B lymphocytopenia	OMIM:619851
Johanson-Blizzard Syndrome	Alopecia, Abnormal hair pattern, Abnormality of the pancreas, Hypoproteinemia, Anemia, Exocrine p...	ORPHA:2315
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency	Hepatomegaly, Decreased proportion of marginal zone B cells, Autoimmune thrombocytopenia, Antinuc...	OMIM:619375
T-Cell Immunodeficiency With Thymic Aplasia	Decreased proportion of naive T cells, Aplasia of the thymus, Autoimmunity, Atypical or prolonged...	ORPHA:83471
Leukocyte Adhesion Deficiency, Type Iii	Hepatomegaly, Extramedullary hematopoiesis, Abnormality of thrombocytes, Splenomegaly, Leukocytos...	OMIM:612840
Spherocytosis, Type 2	Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Jaundice, Spherocytosis, Hyperbi...	OMIM:616649
Loeffler Endocarditis	Eosinophilia	ORPHA:75566
Ménétrier Disease	Hypoproteinemia, Hypoalbuminemia, Hypochromic microcytic anemia	ORPHA:2494
Agammaglobulinemia 2, Autosomal Recessive	Absent circulating B cells, Abnormal T cell morphology	OMIM:613500
Spherocytosis, Type 1	Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Hyperbilirubinemia, Cho...	OMIM:182900
Sting-Associated Vasculopathy, Infantile-Onset	Nailfold capillary tortuosity, Antiphospholipid antibody positivity, Rheumatoid factor positive, ...	OMIM:615934
Glycogen Storage Disease Xii	Normocytic anemia, Hepatomegaly, Elevated circulating creatine kinase concentration, Cholelithias...	OMIM:611881
Iga Pemphigus	Autoimmune antibody positivity, Eosinophilia, Cutaneous abscess	ORPHA:555905
Beta-Thalassemia	Hepatomegaly, Abnormal hemoglobin, Microcytic anemia, Splenomegaly, Hepatitis, Reduced bone miner...	ORPHA:848
Hypermanganesemia With Dystonia 1	Hepatomegaly, Hypermanganesemia, Increased total iron binding capacity, Unconjugated hyperbilirub...	OMIM:613280
Lymphedema, Primary, With Myelodysplasia	Acute myeloid leukemia, Pancytopenia, Decreased CD4:CD8 ratio, Leukemia	OMIM:614038
Caroli Disease	Hepatomegaly, Cholangiocarcinoma, Liver abscess, Cholangitis, Portal hypertension, Conjugated hyp...	ORPHA:53035
Sneddon Syndrome	Antiphospholipid antibody positivity, Lymphopenia	OMIM:182410
Immunodeficiency 36 With Lymphoproliferation	Autoimmunity, Splenomegaly, Enlarged tonsils, Chronic lymphatic leukemia, Increased proportion of...	OMIM:616005
Congenital Bile Acid Synthesis Defect Type 2	Giant cell hepatitis, Hepatomegaly, Extramedullary hematopoiesis, Conjugated hyperbilirubinemia, ...	ORPHA:79303
Cerebroretinal Microangiopathy With Calcifications And Cysts 2	Osteopenia, Pancytopenia, Portal hypertension, Premature graying of hair, Hepatic fibrosis, Bone ...	OMIM:617341
Tularemia	Brain abscess, Abnormal nasopharyngeal adenoid morphology, Leukocytosis, Mediastinal lymphadenopa...	ORPHA:3392
Acute Panmyelosis With Myelofibrosis	Myelofibrosis, Acute myeloid leukemia, Pancytopenia, Low back pain, Splenomegaly, Acute myelomono...	ORPHA:86843
Mixed-Type Autoimmune Hemolytic Anemia	Autoimmune hemolytic anemia, Autoimmunity, Systemic lupus erythematosus, Increased total bilirubin	ORPHA:90036
Congenital Disorder Of Glycosylation, Type Iir	Decreased proportion of CD4-positive T cells, Hepatomegaly, Jaundice, Micronodular cirrhosis, Hep...	OMIM:301045
Cyanosis, Transient Neonatal	Reticulocytosis, Hepatomegaly, Jaundice, Methemoglobinemia, Anemia	OMIM:613977
Shiga Toxin-Associated Hemolytic Uremic Syndrome	Hyponatremia, Reticulocytosis, Leukocytosis, Schistocytosis, Elevated circulating creatinine conc...	ORPHA:90038
Igg4-Related Pachymeningitis	Low back pain, Eosinophilia, Elevated circulating C-reactive protein concentration, Lymphadenitis...	ORPHA:449427
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 6	Pancytopenia, Reticular hyperpigmentation, Premature graying of hair, Bone marrow hypocellularity...	OMIM:619767
Deafness, Autosomal Dominant 1, With Or Without Thrombocytopenia	Impaired platelet aggregation, Macrothrombocytopenia, Thrombocytopenia	OMIM:124900
Overhydrated Hereditary Stomatocytosis	Hemolytic anemia, Reticulocytosis, Hepatomegaly, Splenomegaly, Jaundice, Stomatocytosis, Increase...	OMIM:185000
Idiopathic Hypereosinophilic Syndrome	Myelofibrosis, Neutrophilia, Generalized lymphadenopathy, Eosinophilia, Cholangitis, Thrombocytop...	ORPHA:3260
Sarcoidosis	Hemolytic anemia, Hepatomegaly, Alopecia, Hyperpigmentation of the skin, Eosinophilia, Hypercalce...	ORPHA:797
Pearson Marrow-Pancreas Syndrome	Sideroblastic anemia, Pancytopenia, Hepatomegaly, Pancreatic fibrosis, Thrombocytopenia, Reticulo...	OMIM:557000
Caspase 8 Deficiency	Splenomegaly, Decreased CD4:CD8 ratio, Lymphadenopathy	OMIM:607271
Graft Versus Host Disease	Jaundice, Lymphadenopathy, Hepatosplenomegaly, Chronic hepatitis, Hemophagocytosis, Hyperbilirubi...	ORPHA:39812
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction	Aplasia of the thymus, Short neck, Kyphosis, Hemivertebrae, Low anterior hairline, T lymphocytope...	OMIM:618223
Ataxia-Telangiectasia	Conjunctival telangiectasia, Elevated circulating alpha-fetoprotein concentration, Abnormal hair ...	OMIM:208900
Acetophenetidin Sensitivity	Hemolytic anemia, Methemoglobinemia	OMIM:200300
Eosinophil Peroxidase Deficiency	Eosinophil nuclear hypersegmentation	OMIM:261500
Congenital Disorder Of Glycosylation, Type Iif	Decreased platelet glycoprotein Ib, Macrothrombocytopenia, Thrombocytopenia, Neutropenia	OMIM:603585
Beta-Thalassemia, Dominant Inclusion Body Type	Increased HbA2 hemoglobin, Hepatomegaly, Decreased mean corpuscular hemoglobin concentration, Ery...	OMIM:603902
Cartilage-Hair Hypoplasia	Impaired lymphocyte transformation with phytohemagglutinin, Macrocytic anemia, Lumbar hyperlordos...	OMIM:250250
Autoinflammation, Panniculitis, And Dermatosis Syndrome	Neutrophilia, Elevated circulating C-reactive protein concentration, Leukocytosis, Lymphadenopath...	OMIM:617099
Agammaglobulinemia 6, Autosomal Recessive	Conjunctivitis, B lymphocytopenia, Abnormal T cell morphology	OMIM:612692
Immunodeficiency, Common Variable, 13	Acute lymphoblastic leukemia, Pancytopenia, B lymphocytopenia	OMIM:616873
Myopathy With Extrapyramidal Signs	Extremely elevated creatine kinase, Hepatomegaly, Elevated circulating creatine kinase concentrat...	OMIM:615673
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia	Splenomegaly, Leukocytosis, Intraalveolar phospholipid accumulation	OMIM:618042
Immunodeficiency 37	Decreased proportion of central memory CD4-positive, alpha-beta T cells	OMIM:616098
Immunodeficiency 98 With Autoinflammation, X-Linked	Myelofibrosis, Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Lymphadenopathy, B lympho...	OMIM:301078
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7	Osteopenia, Portal hypertension, Anemia, Premature graying of hair, Nail dystrophy, Lymphopenia, ...	OMIM:620365
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency	Decreased HDL cholesterol concentration, Hypoalbuminemia, Hepatic steatosis, Hyperthreoninemia, H...	ORPHA:247598
Agammaglobulinemia 10, Autosomal Dominant	Transient neutropenia, Absent circulating B cells	OMIM:619707
Chediak-Higashi Syndrome	Impaired neutrophil bactericidal activity, Hepatomegaly, Hypopigmentation of hair, Thrombocytopen...	OMIM:214500
Hemoglobin C-Beta-Thalassemia Syndrome	Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia	ORPHA:231242
Herpes Simplex Virus Encephalitis	Hyponatremia, Leukocytosis, Neutrophilia, Elevated circulating C-reactive protein concentration	ORPHA:1930
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome	Kyphoscoliosis, Lymphopenia, Scoliosis, Synophrys	ORPHA:391307
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)	Hepatomegaly, Elevated circulating alpha-fetoprotein concentration, Portal hypertension, Splenome...	OMIM:251880
Immunodeficiency 92	Hepatomegaly, Cholangitis, Leukocytosis, Decreased proportion of class-switched memory B cells, S...	OMIM:619652
Bernard-Soulier Syndrome	Decreased platelet glycoprotein Ib-IX-V, Giant platelets, Macrothrombocytopenia, Impaired ristoce...	ORPHA:274
Abetalipoproteinemia	Osteopenia, Reticulocytosis, Decreased HDL cholesterol concentration, Hepatomegaly, Abnormality o...	ORPHA:14
Vici Syndrome	Hypopigmentation of hair, Cataract, Elevated circulating creatine kinase concentration, Albinism,...	OMIM:242840
Purine Nucleoside Phosphorylase Deficiency	Autoimmune hemolytic anemia, Hypouricemia, Increased circulating guanosine concentration, Pure re...	OMIM:613179
Primary Myelofibrosis	Hepatomegaly, Pancytopenia, Extramedullary hematopoiesis, Portal hypertension, Thrombocytopenia, ...	ORPHA:824
Cholestasis-Lymphedema Syndrome	Hepatomegaly, Conjugated hyperbilirubinemia, Splenomegaly, Hyperlipidemia, Jaundice, Cirrhosis, N...	OMIM:214900
Retinitis Pigmentosa And Erythrocytic Microcytosis	Anisocytosis, Decreased serum iron, Decreased mean corpuscular volume, Elliptocytosis, Poikilocyt...	OMIM:616959
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome	Osteopenia, Autoimmune hemolytic anemia, Antiphospholipid antibody positivity, Autoimmune thrombo...	ORPHA:391487
Activated Pi3K-Delta Syndrome	Hepatomegaly, Autoimmunity, Splenomegaly, Recurrent tonsillitis, Lymphadenopathy, B lymphocytopenia	ORPHA:397596
Livedoid Vasculopathy	Pancytopenia, Hyperpigmentation of the skin, Autoimmunity, Antinuclear antibody positivity, Leuko...	ORPHA:542643
Angiostrongyliasis	Hypereosinophilia	ORPHA:74
Hemoglobin E Disease	Drug-sensitive hemolytic anemia, Abnormal hemoglobin, Anemia of inadequate production, Splenomega...	ORPHA:2133
Eosinophilic Granulomatosis With Polyangiitis	Hypopigmented skin patches, Autoimmunity, Eosinophilia	ORPHA:183
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome	Reticulocytosis, HbS hemoglobin, Asplenia, Splenomegaly, Splenic infarction, Hypochromic microcyt...	ORPHA:251380
Aggressive Systemic Mastocytosis	Pancytopenia, Portal hypertension, Hypersplenism, Thrombocytopenia, Leukocytosis, Osteoporosis, O...	ORPHA:98850
Epidermodysplasia Verruciformis, Susceptibility To, 4	Increased proportion of exhausted T cells	OMIM:618307
Allergic Bronchopulmonary Aspergillosis	Abnormal eosinophil morphology, Abnormal fingernail morphology	ORPHA:1164
Drug-Induced Autoimmune Hemolytic Anemia	Splenomegaly, Autoimmune hemolytic anemia, Increased total bilirubin	ORPHA:90037
Schimke Immunoosseous Dysplasia	Osteopenia, Pancytopenia, Lumbar hyperlordosis, Ovoid vertebral bodies, Hypermelanotic macule, Sh...	OMIM:242900
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis	Abnormally low T cell receptor excision circle level, Macrocytic anemia, Neutrophilia, Leukocytos...	OMIM:608203
Schimke Immuno-Osseous Dysplasia	Lumbar hyperlordosis, Corneal opacity, Ovoid vertebral bodies, Hypermelanotic macule, Short neck,...	ORPHA:1830
Mevalonic Aciduria	Normocytic hypoplastic anemia, Cataract, Elevated circulating creatine kinase concentration, Elev...	OMIM:610377
Cryptogenic Organizing Pneumonia	Leukocytosis, Neutrophilia, Elevated circulating C-reactive protein concentration	ORPHA:1302
Onychotrichodysplasia And Neutropenia	Curly hair, Chronic irritative conjunctivitis, Chronic neutropenia, Curly eyelashes, Concave nail...	OMIM:258360
Delta-Beta-Thalassemia	Abnormal hemoglobin, Anemia, Microcytic anemia	ORPHA:231237
Yellow Fever	Low back pain, Acute pancreatitis, Neutrophilia, Elevated circulating creatine kinase concentrati...	ORPHA:99829
Immunodeficiency, Common Variable, 1	Hepatomegaly, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, Decreased propo...	OMIM:607594
Severe Combined Immunodeficiency Due To Dclre1C Deficiency	Autoimmunity, Decreased proportion of CD3-positive T cells, Juvenile rheumatoid arthritis, Hashim...	ORPHA:275
Primary Familial Polycythemia	Polycythemia, Abnormal hemoglobin	ORPHA:90042
Congenital Enterovirus Infection	Abnormal macrophage morphology, Leukocytosis, Hepatitis, Hyperammonemia, Cholestasis, Anemia, Leu...	ORPHA:292
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome	Increased mean platelet volume, Highly arched eyebrow, Sparse eyebrow, Synophrys, Abnormality of ...	ORPHA:487796
Immunodeficiency 22	Autoimmunity, Abscess, Anemia, Decreased proportion of CD4-positive helper T cells, Thrombocytopenia	OMIM:615758
Paroxysmal Nocturnal Hemoglobinuria	Hemolytic anemia, Reticulocytosis, Pancytopenia, Decreased serum iron, Abnormal erythrocyte enzym...	ORPHA:447
Obesity Due To Congenital Leptin Deficiency	Decreased proportion of CD4-positive helper T cells, Hypertriglyceridemia	ORPHA:66628
Liver Disease, Severe Congenital	Dry hair, Biliary hyperplasia, Leukopenia, Lymphocytosis, Hypocalcemia, Elevated hepatic iron con...	OMIM:619991
Deafness-Lymphedema-Leukemia Syndrome	Hepatomegaly, Abnormal neutrophil count, Splenomegaly, Leukocytosis, Acute leukemia, Lymphadenopa...	ORPHA:3226
Thrombocytopenia-Absent Radius Syndrome	Cataract, Corneal opacity, Eosinophilia, Pancreatic cysts, Leukocytosis, Hepatosplenomegaly, Anem...	OMIM:274000
Generalized Pustular Psoriasis	Hyponatremia, Elevated circulating C-reactive protein concentration, Leukocytosis, Hypoalbuminemi...	ORPHA:247353
Storage Pool Platelet Disease	Decreased mean platelet volume, Acute leukemia	OMIM:185050
Obesity Due To Leptin Receptor Gene Deficiency	Decreased proportion of CD4-positive helper T cells, Hypertriglyceridemia	ORPHA:179494
Alpha-Thalassemia	Hemolytic anemia, Abnormal hemoglobin, Microcytic anemia, Hypersplenism, Splenomegaly, Jaundice, ...	ORPHA:846
Wiskott-Aldrich Syndrome	Hemolytic anemia, Abnormal eosinophil morphology, Autoimmunity, Microcytic anemia, Keratitis, Thr...	ORPHA:906
Adult-Onset Still Disease	Hepatomegaly, Neutrophilia, Generalized lymphadenopathy, Elevated circulating C-reactive protein ...	ORPHA:829
Chronic Beryllium Disease	Mediastinal lymphadenopathy, Abnormal proportion of CD4-positive T cells	ORPHA:133
Chronic Myeloid Leukemia	Splenomegaly, Leukocytosis, Abnormal granulocyte morphology, Myeloproliferative disorder, Thrombo...	ORPHA:521
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency	Abnormality of the pancreas, White hair, Reduced bone mineral density, Fine hair, Lymphopenia, An...	ORPHA:935
Chronic Bilirubin Encephalopathy	Hemolytic anemia, Conjunctival icterus, Abnormal conjunctiva morphology, Hypoalbuminemia, Prolong...	ORPHA:529808
Lead Poisoning	Decreased HDL cholesterol concentration, Cranial hyperostosis, Imbalanced hemoglobin synthesis, A...	ORPHA:330015
Acute Bilirubin Encephalopathy	Hemolytic anemia, Conjunctival icterus, Abnormal conjunctiva morphology, Hypoalbuminemia, Prolong...	ORPHA:529799
Agammaglobulinemia, X-Linked	Hepatocellular carcinoma, Enteroviral hepatitis, T lymphocytopenia, Lymph node hypoplasia, B lymp...	OMIM:300755
Immunodeficiency 110 With Lymphoproliferation	Autoimmune hemolytic anemia, Lymphopenia, Neutropenia	OMIM:614868
Psoriasis 14, Pustular	Neutrophilia, Cholangitis, Elevated circulating C-reactive protein concentration, Leukocytosis, N...	OMIM:614204
Erythrocytosis, Familial, 1	Increased red blood cell mass, Splenomegaly, Increased hematocrit, Increased hemoglobin	OMIM:133100
Trichothiodystrophy 3, Photosensitive	Brittle hair, Cataract, Developmental cataract, Neutropenia, Tiger tail banding, Lymphopenia, Tri...	OMIM:616395
Arthrogryposis, Renal Dysfunction, And Cholestasis 1	Giant cell hepatitis, Conjugated hyperbilirubinemia, Hepatic melanin-like lysosomal pigmentation,...	OMIM:208085
Granulomatous Disease, Chronic, Autosomal Recessive, 5	Hemolytic anemia, Acute pancreatitis, Rheumatoid factor positive, Abscess, Perianal abscess, Sple...	OMIM:618935
Wilson Disease	Hemolytic anemia, Hepatomegaly, Decreased circulating ceruloplasmin concentration, Hypouricemia, ...	OMIM:277900
Diffuse Cutaneous Mastocytosis	Hepatomegaly, Mixed hypo- and hyperpigmentation of the skin, Abnormality of the spleen, Lymphaden...	ORPHA:79456
Orotic Aciduria	Anisocytosis, Folate-unresponsive megaloblastic anemia, Pyrimidine-responsive megaloblastic anemi...	OMIM:258900
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects	Hemolytic anemia, Hepatomegaly, Cataract, Conjugated hyperbilirubinemia, Splenomegaly, Jaundice, ...	OMIM:608885
Dyskeratosis Congenita, Autosomal Dominant 1	Ridged nail, Alopecia, Aplastic anemia, Thrombocytopenia, Osteoporosis, Hepatic necrosis, Nail pi...	OMIM:127550
Subacute Inflammatory Demyelinating Polyneuropathy	Leukocytosis	ORPHA:206594
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly	Hepatomegaly, Thyroid lymphangiectasia, Short neck, Splenomegaly, Pancreatic lymphangiectasis, Pu...	OMIM:235255
Elliptocytosis 2	Hemolytic anemia, Elliptocytosis, Neonatal hyperbilirubinemia, Reticulocytosis	OMIM:130600
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis	Hyponatremia, Leukocytosis, Hashimoto thyroiditis, Thrombocytopenia	ORPHA:83601
Reni Syndrome	Lymphopenia, Hypoalbuminemia, Hyperpigmentation of the skin, Hypertriglyceridemia	OMIM:617575
Staphylococcal Necrotizing Pneumonia	Leukopenia, Leukocytosis, Neutrophilia, Elevated circulating C-reactive protein concentration	ORPHA:36238
Hoyeraal-Hreidarsson Syndrome	Abnormal leukocyte morphology, Sparse scalp hair, Generalized hyperpigmentation, Premature grayin...	ORPHA:3322
Nijmegen Breakage Syndrome	Conjunctival telangiectasia, Autoimmune hemolytic anemia, Retinal pigment epithelial mottling, Pr...	OMIM:251260
Acute Radiation Syndrome	Cataract, Hyperpigmentation of the skin, Granulocytopenia, Lymphopenia, Hypopigmentation of the s...	ORPHA:454831
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome	Osteolysis involving bones of the upper limbs, Osteolysis, Osteolysis involving bones of the lowe...	ORPHA:464321
Macrothrombocytopenia, Isolated, 1, Autosomal Dominant	Impaired platelet aggregation, Macrothrombocytopenia	OMIM:613112
Dyskeratosis Congenita, Autosomal Dominant 2	Pancytopenia, Aplastic anemia, Reticulated skin pigmentation, Osteoporosis, Premature graying of ...	OMIM:613989
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2	B lymphocytopenia	OMIM:614069
T-Cell Lymphoma, Subcutaneous Panniculitis-Like	Pancytopenia, Hypertriglyceridemia, Autoimmunity, Splenomegaly, Increased circulating ferritin co...	OMIM:618398
Acute Promyelocytic Leukemia	Pancytopenia, Leukocytosis, Lymphadenopathy, Anemia, Leukopenia, Neutropenia, Thrombocytopenia	ORPHA:520
X-Linked Intellectual Disability, Nascimento Type	Recurrent cutaneous abscess formation, Lumbar hypertrichosis, Abnormal hair whorl, Synophrys, Pat...	ORPHA:163956
Hereditary Cryohydrocytosis With Reduced Stomatin	Spontaneous hemolytic crises, Cataract, Short neck, Conjugated hyperbilirubinemia, Jaundice, Hepa...	ORPHA:168577
High Altitude Pulmonary Edema	Leukocytosis	ORPHA:330012
Proteasome-Associated Autoinflammatory Syndrome 3	Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Lymphadenopathy, Anemia, Conjunctivitis, Lympho...	OMIM:617591
Gamma-Heavy Chain Disease	Hepatomegaly, Autoimmune hemolytic anemia, Autoimmunity, Autoimmune thrombocytopenia, Splenomegal...	ORPHA:100026
Cholestasis, Progressive Familial Intrahepatic, 1	Osteopenia, Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Conjugated hyperbiliru...	OMIM:211600
Hereditary Chronic Pancreatitis	Elevated circulating C-reactive protein concentration, Leukocytosis, Jaundice, Recurrent pancreat...	ORPHA:676
Pediatric Systemic Lupus Erythematosus	Alopecia, Antiphospholipid antibody positivity, Antinuclear antibody positivity, Lymphadenopathy,...	ORPHA:93552
Cushing Disease	Sparse scalp hair, Hyperpigmentation of the skin, Leukocytosis, Osteoporosis, Decreased eosinophi...	ORPHA:96253
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency	Decreased proportion of memory B cells, B lymphocytopenia	ORPHA:70593
Bone Marrow Failure Syndrome 3	Acute myeloid leukemia, Pancytopenia, Aplastic anemia, Pancreatic steatosis, Thrombocytopenia, Re...	OMIM:617052
Icf Syndrome	Anemia, Lymphopenia, Abnormality of neutrophils	ORPHA:2268
Avian Influenza	Elevated circulating creatine kinase concentration, Elevated circulating C-reactive protein conce...	ORPHA:454836
Fumarase Deficiency	Intrahepatic cholestasis, Polycythemia, Conjunctival icterus, Hyperbilirubinemia	OMIM:606812
Shwachman-Diamond Syndrome 1	Acute myeloid leukemia, Hepatomegaly, Pancytopenia, Ovoid vertebral bodies, Thrombocytopenia, Per...	OMIM:260400
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome	Hepatomegaly, Short neck, Splenomegaly, Pancreatic lymphangiectasis, Pulmonary lymphangiectasia, ...	ORPHA:1655
Majeed Syndrome	Hepatomegaly, Increased bone mineral density, Congenital hypoplastic anemia, Splenomegaly, Leukoc...	ORPHA:77297
Gastrointestinal Defects And Immunodeficiency Syndrome 1	Impaired lymphocyte transformation with phytohemagglutinin, Autoimmune hemolytic anemia, Autoimmu...	OMIM:243150
Immunodeficiency 96	Conjunctival telangiectasia, Increased proportion of gamma-delta T cells, Increased mean corpuscu...	OMIM:619774
Immunodeficiency 93 And Hypertrophic Cardiomyopathy	Decreased proportion of class-switched memory B cells, B lymphocytopenia, Absent circulating B ce...	OMIM:619705
Erythrocytosis, Familial, 4	Increased hematocrit, Polycythemia, Increased hemoglobin	OMIM:611783
Anterior Cutaneous Nerve Entrapment Syndrome	Back pain, Leukocytosis	ORPHA:51890
Autoimmune Hepatitis	Viral hepatitis, Acute hepatitis, Liver kidney microsome type 1 antibody positivity, Antinuclear ...	ORPHA:2137
Hereditary Methemoglobinemia	Methemoglobinemia, Abnormality of the nail	ORPHA:621
Bile Acid Synthesis Defect, Congenital, 2	Hepatomegaly, Splenomegaly, Jaundice, Intrahepatic cholestasis, Hyperbilirubinemia	OMIM:235555
Felty Syndrome	Hepatomegaly, Generalized hyperpigmentation, Autoimmunity, Splenomegaly, Osteolysis, Lymphadenopa...	ORPHA:47612
Hermansky-Pudlak Syndrome 3	Hypopigmentation of hair, Albinism, Impaired platelet aggregation, Hypopigmentation of the skin, ...	OMIM:614072
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome	Cataract, Thrombocytopenia, Reticulocytopenia, Leukopenia, B lymphocytopenia, Bone marrow hypocel...	ORPHA:508542
Mirage Syndrome	Hyponatremia, Radial club hand, Thrombocytopenia, Hyperkalemia, Leukopenia, Scoliosis, Hypoplasti...	OMIM:617053
Amoebiasis Due To Entamoeba Histolytica	Liver abscess, Lung abscess, Leukocytosis, Hypoalbuminemia, Anemia	ORPHA:67
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation	Hepatomegaly, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Lymphadenop...	OMIM:616100
Igg4-Related Ophthalmic Disease	Eosinophilia, Elevated circulating C-reactive protein concentration, Cholangitis, Retroperitoneal...	ORPHA:449563
Rh-Null, Regulator Type	Hemolytic anemia, Jaundice, Stomatocytosis, Unconjugated hyperbilirubinemia	OMIM:268150
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome	Hepatomegaly, Pancytopenia, Elevated circulating C-reactive protein concentration, Portal hyperte...	OMIM:615688
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase	Methemoglobinemia, Polycythemia	OMIM:250800
Degcags Syndrome	Osteopenia, Synophrys, Low anterior hairline, Abnormality of skin pigmentation, Leukopenia, Iron ...	OMIM:619488
Hypercholanemia, Familial, 2	Osteopenia, Increased serum bile acid concentration, Unconjugated hyperbilirubinemia, Prolonged n...	OMIM:619256
Erythrocytosis, Familial, 5	Increased hematocrit, Polycythemia, Increased hemoglobin	OMIM:617907
Coccidioidomycosis	Abscess, Eosinophilia, Abnormality of the spleen, Mediastinal lymphadenopathy, Peritonitis, Osteo...	ORPHA:228123
Bile Acid Synthesis Defect, Congenital, 1	Hepatomegaly, Giant cell hepatitis, Conjugated hyperbilirubinemia, Splenomegaly, Intrahepatic cho...	OMIM:607765
Erythrocytosis, Familial, 8	Splenomegaly, Increased hematocrit, Polycythemia, Increased hemoglobin	OMIM:222800
Cholestasis, Progressive Familial Intrahepatic, 2	Hepatomegaly, Conjugated hyperbilirubinemia, Splenomegaly, Intrahepatic cholestasis, Intermittent...	OMIM:601847
Alpha-Thalassemia Myelodysplasia Syndrome	Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia	OMIM:300448
Lig4 Syndrome	Hepatomegaly, Pancytopenia, Leukocytosis, Low anterior hairline, Lymphadenopathy, Acute leukemia	ORPHA:99812
Lymphatic Filariasis	Lymphadenitis, Abnormality of the lymphatic system, Hypereosinophilia, Lymphadenopathy, Lymphangi...	ORPHA:2035
Necrotizing Enterocolitis	Hyponatremia, Leukocytosis, Peritonitis, Neutropenia, Thrombocytopenia	ORPHA:391673
Rotor Syndrome	Conjugated hyperbilirubinemia, Conjunctival icterus, Jaundice, Intermittent jaundice, Hyperbiliru...	ORPHA:3111
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome	Absent gallbladder, Anemia, Hypocalcemia, Hyperbilirubinemia, Thrombocytopenia, Aplasia/Hypoplasi...	ORPHA:163979
Spherocytosis, Type 5	Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Abnormal platelet count...	OMIM:612690
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome	Liver kidney microsome type 1 antibody positivity, Antinuclear antibody positivity, Anti-liver cy...	ORPHA:562639
Edinburgh Malformation Syndrome	Jaundice, Neonatal hyperbilirubinemia, Frontal hirsutism	OMIM:129850
Sweet Syndrome	Acute myeloid leukemia, Neutrophilia, Elevated circulating C-reactive protein concentration, Leuk...	ORPHA:3243
Thymoma	Aplastic anemia, Autoimmunity, Pure red cell aplasia, Anti-acetylcholine receptor antibody positi...	ORPHA:99867
Agammaglobulinemia 9, Autosomal Recessive	Thrombocytopenia, Absent circulating B cells	OMIM:619693
Oculocerebral Hypopigmentation Syndrome, Preus Type	Cataract, Abnormality of neutrophils, White hair, Ocular albinism, Reduced bone mineral density, ...	ORPHA:2720
Diamond-Blackfan Anemia 5	Erythroid hypoplasia, Macrocytic anemia, Reticulocytopenia, Leukopenia	OMIM:612528
Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome	Alopecia, Pigmentary retinopathy, Long eyelashes, Sparse hair, Neonatal hyperbilirubinemia	ORPHA:3363
Ebola Hemorrhagic Fever	Acute pancreatitis, Hepatitis, Leukopenia, Lymphopenia, Thrombocytopenia	ORPHA:319218
Kikuchi-Fujimoto Disease	Hepatomegaly, Alopecia, Generalized lymphadenopathy, Elevated circulating C-reactive protein conc...	ORPHA:50918
Macrocephaly/Autism Syndrome	Splenomegaly, Coarse hair, Lymphopenia, Hepatomegaly	OMIM:605309
Hb Bart'S Hydrops Fetalis	Splenomegaly, Abnormal hemoglobin, Anemia, Hepatomegaly	ORPHA:163596
Erythrocytosis, Familial, 2	Increased red blood cell mass, Increased hematocrit, Increased hemoglobin	OMIM:263400
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis	Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume, Sparse eyelashes	OMIM:300946
Rajab Interstitial Lung Disease With Brain Calcifications 1	Osteopenia, Thin bony cortex, Pancytopenia, Portal hypertension, Rickets, Cholestasis, Reduced bo...	OMIM:613658
Crigler-Najjar Syndrome Type 1	Biliary tract abnormality, Abnormality of the liver, Unconjugated hyperbilirubinemia, Prolonged n...	ORPHA:79234
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16	HbH hemoglobin, Short neck, Aplasia/Hypoplasia of the eyebrow, Microcytic anemia	ORPHA:98791
Erythrocytosis, Familial, 3	Increased red blood cell mass, Increased hematocrit, Increased hemoglobin	OMIM:609820
Bleeding Disorder, Platelet-Type, 17	Myelofibrosis, Increased RBC distribution width, Macrothrombocytopenia, Absence of alpha granules...	OMIM:187900
Urachal Cyst	Leukocytosis, Peritonitis, Abscess, Elevated circulating C-reactive protein concentration	ORPHA:488
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome	Hyponatremia, Alopecia, Severe B lymphocytopenia, Alopecia totalis, Autoimmune thrombocytopenia, ...	ORPHA:293978
Igg4-Related Submandibular Gland Disease	Eosinophilia, Cholangitis, Autoimmunity, Retroperitoneal fibrosis, Abnormal pancreas morphology, ...	ORPHA:449432
Diamond-Blackfan Anemia	Acute myeloid leukemia, Pure red cell aplasia, Short neck, Erythroid hypoplasia, Developmental gl...	ORPHA:124
Ivic Syndrome	Leukocytosis, Scoliosis, Thrombocytopenia	ORPHA:2307
Congenital Bile Acid Synthesis Defect Type 3	Jaundice, Cholestasis, Hepatosplenomegaly, Bile duct proliferation, Hyperbilirubinemia, Cirrhosis	ORPHA:79302
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay	Sideroblastic anemia, Brittle hair, Splenomegaly, Schistocytosis, Hypochromic microcytic anemia, ...	OMIM:616084
Bile Acid Synthesis Defect, Congenital, 3	Hepatomegaly, Splenomegaly, Intrahepatic cholestasis, Jaundice, Hepatitis, Acholic stools, Bile d...	OMIM:613812
Sepsis In Premature Infants	Hepatomegaly, Elevated circulating C-reactive protein concentration, Splenomegaly, Leukocytosis, ...	ORPHA:90051
Leukocyte Adhesion Deficiency, Type I	Leukocytosis, Rectal abscess, Elevated circulating C-reactive protein concentration	OMIM:116920
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Autoimmune hemolytic anemia, Alopecia, Autoimmunity, Autoimmune thrombocytopenia, Splenomegaly, H...	ORPHA:37042
Diamond-Blackfan Anemia 4	Erythroid hypoplasia, Macrocytic anemia, Reticulocytopenia, Neutropenia	OMIM:612527
Hyperbilirubinemia, Rotor Type	Conjugated hyperbilirubinemia, Abnormality of skin pigmentation, Jaundice	OMIM:237450
Dyskeratosis Congenita, Autosomal Dominant 3	Pancytopenia, Alopecia, Aplastic anemia, Reticulated skin pigmentation, Osteoporosis, Fine hair, ...	OMIM:613990
Thrombocytopenia 3	Thrombocytopenia, Decreased mean platelet volume	OMIM:273900
Cholestasis, Progressive Familial Intrahepatic, 11	Hepatomegaly, Abnormal circulating bilirubin concentration, Increased serum bile acid concentration	OMIM:619874
Short Stature, Microcephaly, And Endocrine Dysfunction	Lymphopenia, Cataract, Sparse hair, Abnormal circulating lipid concentration, Anemia	OMIM:616541
Igg4-Related Kidney Disease	Rheumatoid factor positive, Eosinophilia, Elevated circulating C-reactive protein concentration, ...	ORPHA:449395
Crigler-Najjar Syndrome Type 2	Neonatal hyperbilirubinemia, Unconjugated hyperbilirubinemia, Prolonged neonatal jaundice	ORPHA:79235
Sickle Cell Disease	Hemolytic anemia, Hepatomegaly, Splenomegaly, Leukocytosis, Splenic infarction, Jaundice, Choleli...	OMIM:603903
Tempi Syndrome	Increased hematocrit, Polycythemia	ORPHA:284227
Legionnaires Disease	Hyponatremia, Splenomegaly, Jaundice, Hepatitis, Lymphadenopathy, Bone marrow hypocellularity, Ly...	ORPHA:549
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome	Accessory spleen, Severe B lymphocytopenia, Cataract, Craniosynostosis, Portal hypertension, Thro...	OMIM:620005
Essential Thrombocythemia	Myelofibrosis, Abnormality of thrombocytes, Splenomegaly, Abnormal platelet morphology, Acute leu...	ORPHA:3318
Barth Syndrome	Cyclic neutropenia, Hypochromic microcytic anemia, Granulocytopenia, Neutropenia, Fair hair	OMIM:302060
Erythrocytosis, Familial, 6	Increased hematocrit, Polycythemia, Increased hemoglobin	OMIM:617980
X-Linked Intellectual Disability-Limb Spasticity-Retinal Dystrophy-Diabetes Insipidus Syndrome	Elevated amniotic fluid alpha-fetoprotein, HbH hemoglobin, Prolonged neonatal jaundice	ORPHA:423479
Acquired Aneurysmal Subarachnoid Hemorrhage	Hypercholesterolemia, Leukocytosis	ORPHA:90065
Thrombocytopenia 1	Congenital thrombocytopenia, Decreased mean platelet volume, Intermittent thrombocytopenia	OMIM:313900
Immunodeficiency, Common Variable, 8, With Autoimmunity	Pancytopenia, Autoimmune hemolytic anemia, Generalized lymphadenopathy, Chronic neutropenia, Auto...	OMIM:614700
Common Variable Immunodeficiency	Hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Lymphadenopathy, Abnormality of the ...	ORPHA:1572
Nk-Cell Enteropathy	Increased T cell count	ORPHA:263665
Beta-Ketothiolase Deficiency	Hepatomegaly, Leukocytosis, Hyperammonemia, Hyperuricemia, Thrombocytosis	ORPHA:134
Beta-Thalassemia Major	Hepatomegaly, Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, ...	ORPHA:231214
Erythrocytosis, Familial, 7	Increased hematocrit, Polycythemia	OMIM:617981
Lujo Hemorrhagic Fever	Elevated circulating C-reactive protein concentration, Leukocytosis, Fulminant hepatitis, Leukope...	ORPHA:319213
Systemic Capillary Leak Syndrome	Leukocytosis, Pancreatitis	ORPHA:188
Dubin-Johnson Syndrome	Conjugated hyperbilirubinemia, Jaundice, Biliary tract abnormality	OMIM:237500
Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin	Persistence of hemoglobin F, Anterior concavity of thoracic vertebrae	OMIM:617101
Senior-Boichis Syndrome	Portal hypertension, Malformation of the hepatic ductal plate, Congenital hepatic fibrosis, Chole...	ORPHA:84081
Primary Sclerosing Cholangitis	Osteopenia, Abnormal eosinophil morphology, Hypoalbuminemia, Hepatic fibrosis, Neoplasm of the ga...	ORPHA:171
Khan-Khan-Katsanis Syndrome	Sacral dimple, Highly arched eyebrow, Trichiasis, Peters anomaly, Corneal scarring, Buphthalmos, ...	OMIM:618460
3-Hydroxy-3-Methylglutaric Aciduria	Hepatomegaly, Acute pancreatitis, Leukocytosis, Jaundice, Lipid accumulation in hepatocytes, Hype...	ORPHA:20
Jaundice, Familial Obstructive, Of Infancy	Jaundice, Neonatal hyperbilirubinemia	OMIM:308600
Hyperbilirubinemia, Conjugated, Type Iii	Conjugated hyperbilirubinemia, Jaundice	OMIM:237550
Hyperbilirubinemia, Transient Familial Neonatal	Jaundice, Neonatal unconjugated hyperbilirubinemia	OMIM:237900
Crigler-Najjar Syndrome, Type Ii	Jaundice, Unconjugated hyperbilirubinemia	OMIM:606785
Crigler-Najjar Syndrome, Type I	Jaundice, Unconjugated hyperbilirubinemia	OMIM:218800
Shigellosis	Hyponatremia, Abscess, Leukocytosis, Peritonitis, Abnormal blood ion concentration, Cholestasis, ...	ORPHA:810
Hardikar Syndrome	Hepatomegaly, Intrahepatic bile duct cysts, Cholangitis, Portal hypertension, Thoracolumbar scoli...	OMIM:301068
Familial Mediterranean Fever	Hepatomegaly, Neutrophilia, Elevated circulating C-reactive protein concentration, Splenomegaly, ...	OMIM:249100
Immunodeficiency 87 And Autoimmunity	Decreased proportion of CD4-positive T cells, Hemolytic anemia, Lymphopenia, Autoimmune hemolytic...	OMIM:619573
Isolated Polycystic Liver Disease	Back pain, Hepatomegaly, Polycystic liver disease, Abnormality of the pancreas, Increased total b...	ORPHA:2924
Diamond-Blackfan Anemia 6	Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume	OMIM:612561
Immunodeficiency 31C	Osteopenia, Impaired lymphocyte transformation with phytohemagglutinin, Autoimmune hemolytic anem...	OMIM:614162
Fusariosis	Brain abscess, Lung abscess, Keratitis, Abnormality of the spleen, Peritonitis, Paronychia, Abnor...	ORPHA:228119
Autoinflammatory Disease, Systemic, X-Linked	Neutropenia, B lymphocytopenia, Hepatosplenomegaly	OMIM:301081
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome	Hypermelanotic macule, Elevated circulating C-reactive protein concentration, Splenomegaly, Leuko...	ORPHA:32960
Abcd Syndrome	White eyelashes, Polycythemia, White eyebrow, Albinism	OMIM:600501
Adenosine Triphosphate, Elevated, Of Erythrocytes	Reduced erythrocyte 2,3-diphosphoglycerate concentration, Polycythemia	OMIM:102900
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin	Persistence of hemoglobin F, Astigmatism, Increased size of nasopharyngeal adenoids	OMIM:619769
Colchicine Poisoning	Hyponatremia, Alopecia, Leukocytosis, Abnormal blood ion concentration, Hypophosphatemia, Hypokal...	ORPHA:31824
Hermansky-Pudlak Syndrome	Hypopigmentation of hair, Cataract, Partial albinism, Abnormality of thrombocytes, Ocular albinis...	ORPHA:79430
Acquired Methemoglobinemia	Methemoglobinemia	ORPHA:464453
Cushing Syndrome Due To Ectopic Acth Secretion	Sparse scalp hair, Pancreatic adenocarcinoma, Hyperpigmentation of the skin, Pancreatoblastoma, N...	ORPHA:99889
Peroxisome Biogenesis Disorder 5A (Zellweger)	Intrahepatic biliary dysgenesis, Hepatomegaly, Cataract, Conjugated hyperbilirubinemia, Splenomeg...	OMIM:614866
Tropical Endomyocardial Fibrosis	Hepatomegaly, Eosinophilia, Splenomegaly, Autoimmune antibody positivity, Hypoalbuminemia	ORPHA:75565
Diamond-Blackfan Anemia 1	Macrocytic anemia, Congenital hypoplastic anemia, Short neck, Reticulocytopenia, Hypoplastic sacr...	OMIM:105650
Bloom Syndrome	Decreased proportion of CD4-positive T cells, Acute myeloid leukemia, Sparse eyelashes, Abscess, ...	ORPHA:125
Tick-Borne Encephalitis	Back pain, Elevated circulating C-reactive protein concentration, Leukocytosis, Leukopenia, Throm...	ORPHA:297
Autoimmune Polyendocrinopathy Type 4	Osteopenia, Macrocytic anemia, Alopecia, Antiphospholipid antibody positivity, Autoimmunity, Auto...	ORPHA:227990
Cogan Syndrome	Keratitis, Leukocytosis, Conjunctivitis, Thrombocytosis, Anemia	ORPHA:1467
Ivic Syndrome	Leukocytosis, Scoliosis, Thrombocytopenia	OMIM:147750
Polycystic Liver Disease 1 With Or Without Kidney Cysts	Back pain, Polycystic liver disease, Increased total bilirubin	OMIM:174050
Hatipoglu Immunodeficiency Syndrome	Pancytopenia, Hyperpigmented/hypopigmented macules, Hemivertebrae, Premature graying of hair, Fai...	OMIM:620331
Pyomyositis	Recurrent cutaneous abscess formation, Leukocytosis	ORPHA:764
Diamond-Blackfan Anemia 3	Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume, Reticulocytopenia	OMIM:610629
Ogden Syndrome	Short neck, Sparse eyebrow, Microvesicular hepatic steatosis, Jaundice, Fine hair, Iron deficienc...	OMIM:300855
Idiopathic Aplastic Anemia	Pancytopenia, Autoimmune antibody positivity, Reticulocytopenia, Anemia, Bone marrow hypocellular...	ORPHA:88
Dyskeratosis Congenita	Abnormality of neutrophils, White hair, Premature graying of hair, Sparse hair, Hepatomegaly, Alo...	ORPHA:1775
Brucellosis	Hepatomegaly, Liver abscess, Lung abscess, Rheumatoid factor positive, Elevated circulating C-rea...	ORPHA:1304
Leukocyte Adhesion Deficiency Type Ii	Hepatomegaly, Broad eyebrow, Neutrophilia, Microcytic anemia, Keratitis, Leukocytosis, Low anteri...	ORPHA:99843
Hijazi-Reis Syndrome	Astigmatism, Iris coloboma, Hyperbilirubinemia	OMIM:301094
Agammaglobulinemia 1, Autosomal Recessive	Conjunctivitis, B lymphocytopenia, Rectal abscess, Neutropenia	OMIM:601495
Autoimmune Polyendocrinopathy Type 3	Osteopenia, Macrocytic anemia, Alopecia, Antiphospholipid antibody positivity, Autoimmunity, Auto...	ORPHA:227982
Secondary Intestinal Lymphangiectasia	Autoimmunity, Decreased prealbumin level, Reduced circulating transferrin concentration, Hypoalbu...	ORPHA:90363
Hyper-Igd Syndrome	Neutrophilia, Splenomegaly, Leukocytosis, Lymphadenitis, Hepatosplenomegaly, Lymphadenopathy	OMIM:260920
Isotretinoin-Like Syndrome	Lymphopenia, Hypocalcemia	ORPHA:2306
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy	Perianal abscess, Thrombocytosis, Leukocytosis, Hypochromic anemia	OMIM:618213
Chronic Intestinal Pseudoobstruction	Abnormal platelet morphology	ORPHA:2978
Hepatic Veno-Occlusive Disease	Hepatomegaly, Jaundice, Increased total bilirubin	ORPHA:890
Lcat Deficiency	Decreased circulating apolipoprotein A-I concentration, Hemolytic anemia, Decreased HDL cholester...	ORPHA:650
Hypopigmentation, Organomegaly, And Delayed Myelination And Development	Hepatomegaly, Hypopigmentation of hair, Splenomegaly, Osteopetrosis, Cafe-au-lait spot, Hypopigme...	OMIM:618541
Cranioectodermal Dysplasia 2	Hepatomegaly, Sparse eyelashes, Cholangitis, Craniosynostosis, Short neck, Sparse eyebrow, Spleno...	OMIM:613610
Whim Syndrome	Lymphadenitis, Abnormal neutrophil morphology, Neutropenia, Lymphopenia, Vitiligo	ORPHA:51636
Griscelli Syndrome, Type 1	Accumulation of melanosomes in melanocytes, White eyelashes, White eyebrow, Silver-gray hair, Lar...	OMIM:214450
Alpha-Thalassemia	Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia	OMIM:604131
Beta-Thalassemia	Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia	OMIM:613985
Neuroleptic Malignant Syndrome	Hyponatremia, Elevated circulating creatine kinase concentration, Leukocytosis, Hyperkalemia, Hyp...	ORPHA:94093
Idiopathic Congenital Hypothyroidism	Delayed proximal femoral epiphyseal ossification, Autoimmune antibody positivity, Neonatal hyperb...	ORPHA:95717
Lipoyltransferase 1 Deficiency	Hyperglutaminemia, Hyperprolinemia, Increased total bilirubin	OMIM:616299
Poems Syndrome	Sclerosis of hand bone, Sclerosis of foot bone, Leukonychia, Lymphadenopathy, Sclerosis of skull ...	ORPHA:2905
Primary Sjögren Syndrome	Normocytic anemia, Chronic active hepatitis, Biliary cirrhosis, Lymphadenopathy, Chronic hepatiti...	ORPHA:289390
Parenteral Nutrition-Associated Cholestasis	Hepatomegaly, Portal hypertension, Conjugated hyperbilirubinemia, Splenomegaly, Hyperlipidemia, A...	ORPHA:567983
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea	Hepatomegaly, Mediastinal lymphadenopathy, Leukocytosis, Cholestasis, Hilar lymph node enlargement	OMIM:620233
Oculocerebral Hypopigmentation Syndrome, Cross Type	Hypopigmentation of hair, Cataract, Corneal opacity, Ocular albinism, Anemia, Iris hypopigmentation	ORPHA:2719
Isolated Biliary Atresia	Hepatomegaly, Conjugated hyperbilirubinemia, Splenomegaly, Atretic gallbladder, Jaundice, Cholest...	ORPHA:30391
Citrullinemia Type Ii	Decreased HDL cholesterol concentration, Acute hyperammonemia, Hypertriglyceridemia, Hepatic stea...	ORPHA:247585
Hypermethioninemia Due To Adenosine Kinase Deficiency	Elevated circulating creatine kinase concentration, Elevated circulating S-adenosyl-L-methionine ...	OMIM:614300
Marburg Hemorrhagic Fever	Back pain, Lymphopenia, Reticulocytosis, Elevated circulating creatine kinase concentration, Hype...	ORPHA:99826
Methemoglobinemia And Ambiguous Genitalia	Methemoglobinemia	OMIM:250790
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia	Enteroviral hepatitis, Conjunctivitis, Absent circulating B cells	OMIM:307200
Gilbert Syndrome	Jaundice, Unconjugated hyperbilirubinemia	OMIM:143500
Congenital Disorder Of Glycosylation, Type Ij	Jaundice, Cataract, Hypoproteinemia	OMIM:608093
Albinism, Oculocutaneous, Type Iii	Red hair, Partial albinism, Albinism	OMIM:203290
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies	Alopecia, Leukocytosis, Azotemia, Generalized hypopigmentation, Hepatic steatosis	OMIM:619321
Peroxisome Biogenesis Disorder 12A (Zellweger)	Hyperbilirubinemia, Elevated circulating long chain fatty acid concentration, Abnormal cortical b...	OMIM:614886
Congenital Hypothyroidism Due To Transplacental Passage Of Tsh-Binding Inhibitory Antibodies	Conjugated hyperbilirubinemia, Anti-thyroid peroxidase antibody positivity, Autoimmune antibody p...	ORPHA:95715
Juvenile Polyposis Syndrome	Neoplasm of the pancreas, Brain abscess, Extrahepatic portal hypertension, Hepatic arteriovenous ...	ORPHA:2929
Carpenter Syndrome	Abnormal cornea morphology, Kyphoscoliosis, Polysplenia, Craniosynostosis	ORPHA:65759
Hermansky-Pudlak Syndrome 11	Albinism, Ocular albinism, Melanocytic nevus, Reduced platelet dense granules, Iris transillumina...	OMIM:619172
Tietz Syndrome	Hypopigmentation of hair, White eyebrow, Abnormality of skin pigmentation, Abnormal anterior cham...	ORPHA:42665
Bachmann-Bupp Syndrome	Absent eyebrow, Sparse scalp hair, Sparse eyelashes, Small nail, Hyperbilirubinemia	OMIM:619075
Enterokinase Deficiency	Hypoproteinemia	OMIM:226200
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome	Hepatomegaly, Abnormal blood inorganic cation concentration, Portal hypertension, Splenomegaly, M...	ORPHA:309854
Nephrotic Syndrome, Type 1	Hypoproteinemia, Hyperlipidemia, Hypoalbuminemia	OMIM:256300
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked	Kyphoscoliosis, Kyphosis, Reduced alpha/beta synthesis ratio, Hemivertebrae, Hypochromic microcyt...	OMIM:301040
Very Long Chain Acyl-Coa Dehydrogenase Deficiency	Hepatomegaly, Elevated circulating creatine kinase concentration, Increased circulating free fatt...	ORPHA:26793
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency	Low anterior hairline, Osteoporosis, Low posterior hairline, Cafe-au-lait spot, Neonatal hyperbil...	ORPHA:73272
Infection-Related Hemolytic Uremic Syndrome	Hyponatremia, Hemolytic anemia, Brain abscess, Leukocytosis, Hyperkalemia, Hypocalcemia, Pancreat...	ORPHA:544482
Microsporidiosis	Brain abscess, Cholangitis, Keratitis, Abnormality of the spleen, Lymphadenitis, Peritonitis, Bil...	ORPHA:2552
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome	Hepatomegaly, Severe B lymphocytopenia, Biliary hyperplasia, Cleft vertebral arch, Fused cervical...	ORPHA:83617
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy	Hypoproteinemia	OMIM:221400
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome	Abnormal hemoglobin, Anemia	ORPHA:847
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome	Thoracic scoliosis, Absent nipple, Aplasia of the thymus, Sparse eyebrow, Hypoplastic nipples, Un...	OMIM:620186
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Hepatomegaly, Cataract, Elevated circulating creatine kinase concentration, Hypoplastic toenails,...	OMIM:608836
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome	Hypopigmentation of hair, Albinism, Kyphosis, Osteoporosis, Platyspondyly, Hypopigmentation of th...	ORPHA:2786
Familial Thyroid Dyshormonogenesis	Delayed proximal femoral epiphyseal ossification, Abnormal circulating thyroglobulin level, Neona...	ORPHA:95716
Hemorrhagic Fever-Renal Syndrome	Back pain, Leukocytosis, Elevated circulating creatinine concentration, Hyperkalemia, Anemia, Hyp...	ORPHA:340
Tangier Disease	Orange discolored tonsils, Hypertriglyceridemia, Corneal opacity, Chronic noninfectious lymphaden...	ORPHA:31150
Gastritis, Familial Giant Hypertrophic	Hypoproteinemia	OMIM:137280
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)	Hepatomegaly, Conjugated hyperbilirubinemia, Microvesicular hepatic steatosis, Jaundice, Depletio...	OMIM:618528
Liver Failure, Infantile, Transient	Hepatomegaly, Microvesicular hepatic steatosis, Jaundice, Hypoalbuminemia, Macrovesicular hepatic...	OMIM:613070
Bile Acid Conjugation Defect 1	Conjugated hyperbilirubinemia, Hepatomegaly, Jaundice, Rickets	OMIM:619232
Biliary Atresia, Extrahepatic	Hepatomegaly, Atretic gallbladder, Extrahepatic biliary duct atresia, Jaundice, Acholic stools, P...	OMIM:210500
Dermatomyositis	Abnormal hair quantity, Abnormal eosinophil morphology, Autoimmunity, Abnormality of the nail	ORPHA:221
Neuroectodermal Melanolysosomal Disease	Premature graying of hair, Hypopigmentation of hair, Generalized hyperpigmentation, Hypopigmentat...	ORPHA:33445
Mogs-Cdg	Hepatomegaly, Alopecia, Thoracic scoliosis, Hirsutism, Hepatosplenomegaly, Long eyelashes, Fair h...	ORPHA:79330
Kawasaki Disease	Abnormality of nail color, Cervical lymphadenopathy, Leukocytosis, Jaundice, Hepatitis, Conjuncti...	ORPHA:2331
Congenital Disorder Of Glycosylation, Type Iil	Hepatomegaly, Pancytopenia, Elevated circulating creatine kinase concentration, Splenomegaly, Cho...	OMIM:614576
Hidrotic Ectodermal Dysplasia	Absent eyebrow, Alopecia, Hypopigmentation of hair, Sparse eyelashes, Brittle scalp hair, Sparse ...	ORPHA:189
Nephrotic Syndrome, Type 22	Hypoproteinemia	OMIM:619155
Viss Syndrome	Sparse scalp hair, Alopecia, Kyphosis, Hypereosinophilia, Hirsutism, Scoliosis, Butterfly vertebrae	OMIM:619472
Citrullinemia, Type Ii, Neonatal-Onset	Hypertyrosinemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Conjugated hyper...	OMIM:605814
Crimean-Congo Hemorrhagic Fever	Hepatomegaly, Pancytopenia, Neutrophilia, Acute pancreatitis, Elevated circulating creatine kinas...	ORPHA:99827
Leukocyte Adhesion Deficiency	Acute myeloid leukemia, Perianal abscess, Leukocytosis, Peritonitis, Recurrent tonsillitis, Conju...	ORPHA:2968
Fanconi-Bickel Syndrome	Hepatomegaly, Hypouricemia, Osteomalacia, Intrahepatic cholestasis, Rickets, Hypophosphatemia, Hy...	OMIM:227810
Congenital Heart Defect-Round Face-Developmental Delay Syndrome	Hypopigmentation of hair, Generalized hyperpigmentation	ORPHA:1355
Primary Biliary Cholangitis	Autoimmunity, Portal hypertension, Conjugated hyperbilirubinemia, Antinuclear antibody positivity...	ORPHA:186
Cholestasis, Benign Recurrent Intrahepatic, 1	Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Conjugated hyperbilirubinemia, Int...	OMIM:243300
Bile Acid Synthesis Defect, Congenital, 4	Hepatomegaly, Giant cell hepatitis, Intrahepatic cholestasis, Prolonged neonatal jaundice, Decrea...	OMIM:214950
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair	Red hair, Cholestasis, Hyperbilirubinemia	OMIM:609734
Distal Xq28 Microduplication Syndrome	Cafe-au-lait spot, Neonatal hyperbilirubinemia, Aplasia/Hypoplasia of the eyebrow	ORPHA:293939
Car T Cell Therapy-Associated Cytokine Release Syndrome	Elevated circulating creatinine concentration, Hyperbilirubinemia	ORPHA:542323
Intrahepatic Cholestasis Of Pregnancy	Autoimmunity, Abnormality of the pancreas, Jaundice, Cholecystitis, Increased serum bile acid con...	ORPHA:69665
Neurodevelopmental Disorder With Microcephaly, Seizures, And Neonatal Cholestasis	Increased serum bile acid concentration, Intrahepatic cholestasis, Hyperbilirubinemia	OMIM:619685
Albinism, Oculocutaneous, Type Ib	Hypopigmentation of hair, Hypopigmentation of the skin, Albinism	OMIM:606952
Cholestasis, Progressive Familial Intrahepatic, 8	Hepatomegaly, Elevated circulating alpha-fetoprotein concentration, Portal hypertension, Conjugat...	OMIM:619662
Biliary, Renal, Neurologic, And Skeletal Syndrome	Osteopenia, Hepatomegaly, Portal hypertension, Conjugated hyperbilirubinemia, Splenomegaly, Incre...	OMIM:619534
Autosomal Dominant Spastic Paraplegia Type 29	Hyperbilirubinemia	ORPHA:101009
Arthrogryposis, Renal Dysfunction, And Cholestasis 2	Giant cell hepatitis, Hepatomegaly, Conjugated hyperbilirubinemia, Jaundice, Cholestatic liver di...	OMIM:613404
Congenital Analbuminemia	Hyperlipidemia, Increased alpha-globulin, Hypoalbuminemia, Hypercholesterolemia, Hypoproteinemia	ORPHA:86816
Peroxisome Biogenesis Disorder 13A (Zellweger)	Hepatomegaly, Conjugated hyperbilirubinemia, Intrahepatic cholestasis, Jaundice, Reduced number o...	OMIM:614887
Albinism, Oculocutaneous, Type Iv	Hypopigmentation of hair, Blue irides, Albinism	OMIM:606574
Developmental Delay, Impaired Speech, And Behavioral Abnormalities	Back pain, Hypopigmentation of the skin, Broad eyebrow, Cataract, Kyphosis, Jaundice, Synophrys, ...	OMIM:619475
Dubin-Johnson Syndrome	Hepatomegaly, Conjugated hyperbilirubinemia, Jaundice, Biliary tract abnormality, Abnormality of ...	ORPHA:234
Lissencephaly Due To Lis1 Mutation	Neonatal hyperbilirubinemia, Scoliosis	ORPHA:95232
Cholestasis, Progressive Familial Intrahepatic, 5	Elevated circulating alpha-fetoprotein concentration, Conjugated hyperbilirubinemia, Jaundice, Hy...	OMIM:617049
Dilution, Pigmentary	Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation	OMIM:126070
Oculocutaneous Albinism, Type Viii	Iris transillumination defect, Hypopigmentation of hair, Hypopigmentation of the skin	OMIM:619165
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy	Conjugated hyperbilirubinemia, Intrahepatic cholestasis, Jaundice, Hyperammonemia, Decreased seru...	OMIM:617093
Pyruvate Carboxylase Deficiency	Hypoglutaminemia, Increased serum pyruvate, Hepatomegaly, Hyperglutamatemia, Hyperammonemia, Hype...	ORPHA:3008
Hypothyroidism Due To Tsh Receptor Mutations	Increased circulating thyroglobulin level, Delayed proximal femoral epiphyseal ossification, Auto...	ORPHA:90673
Cystinosis, Nephropathic	Hyponatremia, Hepatomegaly, Hypopigmentation of hair, Splenomegaly, Retinal pigment epithelial mo...	OMIM:219800
Griscelli Syndrome Type 3	Hypopigmentation of hair, Partial albinism, Iris hypopigmentation	ORPHA:79478
Fructose-1,6-Bisphosphatase Deficiency	Hepatomegaly, Hyperuricemia, Hyperalaninemia, Hepatic steatosis, Neonatal hyperbilirubinemia	ORPHA:348
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome	Alopecia, Cataract, Corneal opacity, Hypopigmentation of hair, Aplasia/Hypoplasia of the iris, Pe...	ORPHA:1067
Isolated Thyroid-Stimulating Hormone Deficiency	Delayed proximal femoral epiphyseal ossification, Autoimmune antibody positivity, Prolonged neona...	ORPHA:90674
Severe Generalized Junctional Epidermolysis Bullosa	Alopecia, Paronychia, Osteoporosis, Abnormal blood ion concentration, Abnormal cornea morphology,...	ORPHA:79404
Woolly Hair	Hypopigmentation of hair, Brittle hair, Slow-growing hair, Cataract, Abnormality of hair texture,...	ORPHA:170
Cholestasis, Benign Recurrent Intrahepatic, 2	Hepatomegaly, Conjugated hyperbilirubinemia, Intrahepatic cholestasis, Jaundice, Cholelithiasis	OMIM:605479
Cholestasis, Progressive Familial Intrahepatic, 6	Conjugated hyperbilirubinemia, Intrahepatic cholestasis, Periportal fibrosis	OMIM:619484
Von Hippel-Lindau Syndrome	Neoplasm of the pancreas, Polycythemia, Hepatic hemangioma, Pancreatic cysts	OMIM:193300
Johanson-Blizzard Syndrome	Hepatomegaly, Sparse scalp hair, Increased VLDL cholesterol concentration, Portal hypertension, C...	OMIM:243800
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)	Hypertyrosinemia, Conjugated hyperbilirubinemia, Microvesicular hepatic steatosis, Jaundice, Chol...	OMIM:617156
Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease	Hepatomegaly, Hypopigmentation of hair, Abnormal eyebrow morphology, Splenomegaly, Hypopigmented ...	ORPHA:163746
Squalene Synthase Deficiency	Increased circulating farnesol concentration, Abnormality of hair pigmentation, Decreased LDL cho...	OMIM:618156
Pierson Syndrome	Rieger anomaly, Cataract, Hypoplasia of the ciliary body, Uveal ectropion, Hypoplasia of the iris...	OMIM:609049
Pancreatic insufficiency, combined exocrine	Hypoproteinemia, Exocrine pancreatic insufficiency	OMIM:260450
Albinism, Oculocutaneous, Type Ii	Hypopigmentation of hair, Freckles in sun-exposed areas, Albinism, Blue irides, Red hair, Hypopig...	OMIM:203200
Microcephalic Osteodysplastic Primordial Dwarfism, Type I	Sparse scalp hair, Sparse eyelashes, Short neck, Sparse eyebrow, Delayed epiphyseal ossification,...	OMIM:210710
Waardenburg Syndrome Type 1	Hypopigmentation of hair, White eyelashes, White eyebrow, Abnormal hair morphology, Synophrys, Wh...	ORPHA:894
Spastic Paraplegia 29, Autosomal Dominant	Neonatal hyperbilirubinemia	OMIM:609727
Mitchell-Riley Syndrome	Absent gallbladder, Biliary atresia, Cholestasis, Acholic stools, Hyperbilirubinemia, Annular pan...	OMIM:615710
Acrodysostosis 2 With Or Without Hormone Resistance	Blue irides, Spinal canal stenosis, Advanced ossification of carpal bones, Red hair, Fair hair	OMIM:614613
Ciliary Dyskinesia, Primary, 1	Asplenia, Abnormal cornea morphology	OMIM:244400
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type	Hypopigmentation of hair, Hepatic steatosis	ORPHA:70472
Waardenburg Syndrome Type 2	Hypopigmentation of hair, Hypopigmented skin patches, Premature graying of hair, White forelock, ...	ORPHA:895
Prader-Willi Syndrome Due To Imprinting Mutation	Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation	ORPHA:177910
Classic Phenylketonuria	Hypopigmentation of hair, Cataract, Hypopigmentation of the skin, Hyperphenylalaninemia	ORPHA:79254
Piebald Trait-Neurologic Defects Syndrome	Abnormal eyebrow morphology, Hypopigmentation of hair, Abnormal eyelash morphology, Hypopigmented...	ORPHA:2885
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13	Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation	ORPHA:411515
Brittle Cornea Syndrome 1	Keratoconus, Keratoglobus, Abnormal cornea morphology, Scoliosis, Decreased corneal thickness, Re...	OMIM:229200
Elejalde Neuroectodermal Melanolysosomal Syndrome	Accumulation of melanosomes in melanocytes, Silver-gray hair, Hypopigmentation of the skin, Melan...	OMIM:256710
Waardenburg-Shah Syndrome	Abnormality of retinal pigmentation, Hypopigmentation of hair, Abnormal eyebrow morphology, White...	ORPHA:897
Mirizzi Syndrome	Pancreatitis, Jaundice, Cholesterol gallstones, Hyperbilirubinemia, Cholelithiasis, Abnormal duct...	ORPHA:521219
Obesity Due To Prohormone Convertase I Deficiency	Red hair, Hypopigmentation of the skin, Cholestasis	ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency	Red hair, Hypopigmentation of the skin, Cholestasis	ORPHA:71526
Brittle Cornea Syndrome	Corneal dystrophy, Corneal erosion, Osteoporosis, Abnormality of hair pigmentation, Corneal scarr...	ORPHA:90354
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly	Polycystic liver disease, Pancreatic fibrosis, Conjugated hyperbilirubinemia, Pancreatic cysts, J...	OMIM:208500
Pituitary Hormone Deficiency, Combined, 6	Hyperbilirubinemia	OMIM:613986
Obesity And Hypopigmentation	Red hair, Hepatic steatosis	OMIM:620195
Koolen-De Vries Syndrome	Vertebral fusion, Hypopigmentation of hair, Cataract, Abnormality of hair texture, Kyphosis, Vert...	ORPHA:96169
Acquired Hypertrichosis Lanuginosa	Abnormal eyebrow morphology, Hypopigmentation of hair, Fine hair, Lymphadenopathy, Generalized hi...	ORPHA:2221
Fructose Intolerance, Hereditary	Hepatomegaly, Jaundice, Bicarbonaturia, Hyperuricemia, Hyperbilirubinemia, Hypophosphatemia, Cirr...	OMIM:229600
Neurooculorenal Syndrome	Conjugated hyperbilirubinemia, Iris atrophy, Highly arched eyebrow	OMIM:620305
Hypothyroidism, Congenital, Nongoitrous, 2	Increased circulating thyroglobulin level, Hyperbilirubinemia	OMIM:218700
Prader-Willi Syndrome	Osteopenia, Hypopigmentation of hair, Kyphosis, Osteoporosis, Frontal upsweep of hair, Scoliosis,...	OMIM:176270
Muenke Syndrome	Hypopigmentation of hair, Coronal craniosynostosis, Hypopigmented skin patches, Hypermelanotic ma...	ORPHA:53271
Piebaldism	Hypopigmentation of hair, White eyelashes, White eyebrow, Synophrys, Piebaldism, Hypopigmented sk...	ORPHA:2884
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion	Hypopigmentation of hair, Hypopigmentation of the skin, Scoliosis, Iris hypopigmentation	ORPHA:98794
Deaf Blind Hypopigmentation Syndrome, Yemenite Type	Hypopigmentation of hair, Hypopigmented skin patches, Microcornea, Anterior synechiae of the ante...	ORPHA:3214
Telangiectasia, Hereditary Hemorrhagic, Type 2	Conjunctival telangiectasia, Brain abscess, Nail bed telangiectasia, Cirrhosis, Hepatic arteriove...	OMIM:600376
Oculocutaneous Albinism Type 4	Abnormality of retinal pigmentation, Hypopigmentation of hair, Albinism, White hair, Ocular albin...	ORPHA:79435
Sim1-Related Prader-Willi-Like Syndrome	Osteopenia, Hypopigmentation of hair, Osteoporosis, Scoliosis, Hypopigmentation of the skin	ORPHA:398079
Magel2-Related Prader-Willi-Like Syndrome	Osteopenia, Hypopigmentation of hair, Kyphosis, Osteoporosis, Scoliosis, Hypopigmentation of the ...	ORPHA:398069
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15	Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation	ORPHA:98795
Angelman Syndrome Due To A Point Mutation	Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation	ORPHA:411511
Ermine Phenotype	Hypopigmentation of hair, Ocular albinism, Hypopigmented skin patches, Astigmatism, Irregular hyp...	ORPHA:999
Waardenburg Syndrome	Abnormal eyebrow morphology, Hypopigmentation of hair, Synophrys, Hypopigmented skin patches, Abn...	ORPHA:3440
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15	Osteopenia, Hypopigmentation of hair, Osteoporosis, Scoliosis, Hypopigmentation of the skin, Iris...	ORPHA:98754
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion	Osteopenia, Hypopigmentation of hair, Osteoporosis, Scoliosis, Hypopigmentation of the skin, Iris...	ORPHA:98793
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2	Osteopenia, Hypopigmentation of hair, Osteoporosis, Scoliosis, Hypopigmentation of the skin, Iris...	ORPHA:177904
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1	Osteopenia, Hypopigmentation of hair, Osteoporosis, Scoliosis, Hypopigmentation of the skin, Iris...	ORPHA:177901
Oculocutaneous Albinism Type 2	Abnormality of retinal pigmentation, Hypopigmentation of hair, White eyelashes, White eyebrow, Ab...	ORPHA:79432
Smith-Lemli-Opitz Syndrome	Hypopigmentation of hair, Cataract, Sclerocornea, Short neck, Abnormal eyelash morphology, Kyphos...	ORPHA:818
Oculocutaneous Albinism Type 3	White eyelashes, White eyebrow, Freckling, Absent skin pigmentation, Blue irides, Red hair, Gener...	ORPHA:79433
Prader-Willi Syndrome Due To Translocation	Hypopigmentation of hair, Short neck, Scoliosis, Stellate iris, Hypopigmentation of the skin, Hyp...	ORPHA:177907
Hermansky-Pudlak Syndrome 1	Hypopigmentation of hair, Freckles in sun-exposed areas, Albinism, Ocular albinism, Melanocytic n...	OMIM:203300
Prader-Willi Syndrome	Osteopenia, Hypopigmentation of hair, Osteoporosis, Scoliosis, Hypopigmentation of the skin	ORPHA:739
Oculocutaneous Albinism Type 1B	Abnormality of retinal pigmentation, Hypopigmentation of hair, Albinism, Melanocytic nevus, Freck...	ORPHA:79434
Congenital Disorder Of Glycosylation, Type Iim	Neonatal hyperbilirubinemia, Thick eyebrow	OMIM:300896
Albinism, Oculocutaneous, Type Ia	Hypopigmentation of hair, Albinism, Absent skin pigmentation, White hair, Blue irides, Ocular alb...	OMIM:203100
Oculocutaneous Albinism Type 1A	Hypopigmentation of hair, Albinism, Ocular albinism, Freckling, Hypopigmentation of the skin, Iri...	ORPHA:79431
Carney Complex, Type 1	Multiple lentigines, Red hair, Freckling, Profuse pigmented skin lesions, Hirsutism	OMIM:160980
Menkes Disease	Hypopigmentation of hair, Osteoporosis, Prolonged neonatal jaundice, Sparse hair, Woolly hair	ORPHA:565
Autosomal Recessive Faciodigitogenital Syndrome	Dry hair, Coarse hair, Hypopigmentation of hair, Widow's peak	ORPHA:1974
Hypohidrosis-Enamel Hypoplasia-Palmoplantar Keratoderma-Intellectual Disability Syndrome	Hepatitis, Sparse lateral eyebrow	ORPHA:363523
Shaheen Syndrome		OMIM:615328

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 Cog6

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 Cog6.

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)	Cog6^{tm1a(EUCOMM)Wtsi}	PMC7263671
High-throughput phenotyping reveals expansive genetic and structural underpinnings of immune variation.	Nature immunology (December 2019)	Cog6^{tm1a(EUCOMM)Wtsi}	PMC7338221
Large-scale neuroanatomical study uncovers 198 gene associations in mouse brain morphogenesis.	Nature communications (August 2019)	Cog6^{tm1a(EUCOMM)Wtsi}	PMC6671969
Mouse screen reveals multiple new genes underlying mouse and human hearing loss.	PLoS biology (April 2019)	Cog6^{tm1a(EUCOMM)Wtsi}	PMC6459510
Genome wide in vivo mouse screen data from studies to assess host regulation of metastatic colonisation.	Scientific data (September 2017)	Cog6^{tm1a(EUCOMM)Wtsi}	PMC5827107

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

MGI Allele	Allele Type	Produced
Cog6^{tm1a(EUCOMM)Wtsi}	KO first allele (reporter-tagged insertion with conditional potential)	Mice, Targeting vectors, ES Cells
Cog6^{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: Cog6 MGI:1914792

Gene Summary

IMPC Data Collections

IMPC Phenotype Summary

Phenotypes

lacZ Expression

Associated Images

Mesenteric Lymph Node Immunophenotyping

Spleen Immunophenotyping

X-ray

Anti-nuclear antibody assay

X-ray

Eye Morphology

DSS Histology

X-ray

X-ray

X-ray

Eye Morphology

Ear epidermis immunophenotyping

Legacy Phenotype Associated Images

Human diseases caused by Cog6 mutations

Histopathology

IMPC related publications

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Access Data Release 20.1 Data