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Gene: Cog6 MGI:1914792

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Gene Summary

Name:
component of oligomeric golgi complex 6
Synonyms:
N/A

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IMPC Data Collections

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 System Allele Zyg Sex Life Stage P Value
increased circulating alkaline phosphatase level Cog6tm1a(EUCOMM)Wtsi HOM Early adult 0.00
decreased NK T cell number Cog6tm1a(EUCOMM)Wtsi HOM   Early adult 0.00
decreased memory-marker CD4-negative NK T cell number Cog6tm1a(EUCOMM)Wtsi HOM   Early adult 0.00
decreased CD4-positive NK T cell number Cog6tm1a(EUCOMM)Wtsi HOM   Early adult 0.00
increased monocyte cell number Cog6tm1a(EUCOMM)Wtsi HOM   Early adult 0.00
increased circulating aspartate transaminase level Cog6tm1a(EUCOMM)Wtsi HOM Early adult 1.42×10-12
increased CD4-negative NK T cell number Cog6tm1a(EUCOMM)Wtsi HOM   Early adult 0.00
decreased bone mineral content Cog6tm1a(EUCOMM)Wtsi HOM   Early adult 1.68×10-05
vertebral transformation Cog6tm1a(EUCOMM)Wtsi HOM Early adult 3.38×10-10
increased anti-nuclear antigen antibody level Cog6tm1a(EUCOMM)Wtsi HOM Early adult 0.00
increased CD4-positive, CD25-positive, alpha-beta regulatory T cell number Cog6tm1a(EUCOMM)Wtsi HOM   Early adult 0.00
abnormal bone structure Cog6tm1a(EUCOMM)Wtsi HOM   Early adult 5.18×10-06
increased CD4-positive, alpha-beta memory T cell number Cog6tm1a(EUCOMM)Wtsi HOM Early adult 0.00
decreased erythrocyte cell number Cog6tm1a(EUCOMM)Wtsi HOM Early adult 1.08×10-07
increased gamma-delta T cell number Cog6tm1a(EUCOMM)Wtsi HOM   Early adult 0.00
decreased transitional stage T2 B cell number Cog6tm1a(EUCOMM)Wtsi HOM   Early adult 0.00
increased follicular B cell number Cog6tm1a(EUCOMM)Wtsi HOM   Early adult 0.00
decreased CD8-positive, naive alpha-beta T cell number Cog6tm1a(EUCOMM)Wtsi HOM   Early adult 0.00
decreased mean corpuscular hemoglobin Cog6tm1a(EUCOMM)Wtsi HOM Early adult 1.94×10-15
decreased marginal zone B cell number Cog6tm1a(EUCOMM)Wtsi HOM   Early adult 0.00
abnormal coat/hair pigmentation Cog6tm1a(EUCOMM)Wtsi HOM Early adult 3.53×10-05
decreased memory-marker NK cell number Cog6tm1a(EUCOMM)Wtsi HOM   Early adult 0.00
increased KLRG1-positive NK cell number Cog6tm1a(EUCOMM)Wtsi HOM   Early adult 0.00
increased memory-marker gamma-delta T cell number Cog6tm1a(EUCOMM)Wtsi HOM   Early adult 0.00
increased memory CD4-positive, CD25-positive, alpha-beta regulatory T cell number Cog6tm1a(EUCOMM)Wtsi HOM   Early adult 0.00
increased CD5-positive gamma-delta T cell number Cog6tm1a(EUCOMM)Wtsi HOM   Early adult 0.00
increased plasma cell number Cog6tm1a(EUCOMM)Wtsi HOM   Early adult 0.00
increased circulating total protein level Cog6tm1a(EUCOMM)Wtsi HOM   Early adult 1.12×10-05
increased CD4-positive, alpha beta T cell number Cog6tm1a(EUCOMM)Wtsi HOM   Early adult 0.00
decreased memory-marker gamma-delta T cell number Cog6tm1a(EUCOMM)Wtsi HOM   Early adult 0.00
increased circulating amylase level Cog6tm1a(EUCOMM)Wtsi HOM   Early adult 2.72×10-05
decreased hemoglobin content Cog6tm1a(EUCOMM)Wtsi HOM Early adult 5.85×10-06
increased B-2 B cell number Cog6tm1a(EUCOMM)Wtsi HOM   Early adult 0.00
decreased CD8-positive, alpha-beta T cell number Cog6tm1a(EUCOMM)Wtsi HOM   Early adult 0.00
increased Ly6C high monocyte number Cog6tm1a(EUCOMM)Wtsi HOM Early adult 0.00
increased eosinophil cell number Cog6tm1a(EUCOMM)Wtsi HOM   Early adult 0.00
abnormal cornea morphology Cog6tm1a(EUCOMM)Wtsi HOM Early adult 3.41×10-05
decreased mean corpuscular hemoglobin concentration Cog6tm1a(EUCOMM)Wtsi HOM Early adult 1.01×10-18
decreased memory-marker CD4-positive NK T cell number Cog6tm1a(EUCOMM)Wtsi HOM   Early adult 0.00
decreased Ly6C-positive mature NK cell number Cog6tm1a(EUCOMM)Wtsi HOM   Early adult 0.00
decreased T cell number Cog6tm1a(EUCOMM)Wtsi HOM   Early adult 0.00
decreased effector memory CD8-positive, alpha-beta T cell number Cog6tm1a(EUCOMM)Wtsi HOM   Early adult 0.00
decreased alpha-beta T cell number Cog6tm1a(EUCOMM)Wtsi HOM   Early adult 0.00
increased leukocyte cell number Cog6tm1a(EUCOMM)Wtsi HOM Early adult 3.19×10-06
increased effector memory T-helper cell number Cog6tm1a(EUCOMM)Wtsi HOM   Early adult 0.00
increased granulocyte number Cog6tm1a(EUCOMM)Wtsi HOM   Early adult 0.00
decreased NK cell number Cog6tm1a(EUCOMM)Wtsi HOM   Early adult 0.00
increased KLRG1+ CD8 alpha beta T cell number Cog6tm1a(EUCOMM)Wtsi HOM   Early adult 0.00
decreased Ly6C-positive immature NK cell number Cog6tm1a(EUCOMM)Wtsi HOM   Early adult 0.00
increased mean platelet volume Cog6tm1a(EUCOMM)Wtsi HOM Early adult 6.23×10-06
increased KLRG1+ CD4 alpha beta T cell number Cog6tm1a(EUCOMM)Wtsi HOM Early adult 0.00
increased red blood cell distribution width Cog6tm1a(EUCOMM)Wtsi HOM Early adult 1.64×10-07
increased KLRG1-positive CD4-positive, CD25-positive, alpha-beta regulatory T cell number Cog6tm1a(EUCOMM)Wtsi HOM   Early adult 0.00
decreased hematocrit Cog6tm1a(EUCOMM)Wtsi HOM Early adult 8.85×10-05
increased KLRG1-positive T-helper cell number Cog6tm1a(EUCOMM)Wtsi HOM   Early adult 0.00
decreased T-helper cell number Cog6tm1a(EUCOMM)Wtsi HOM   Early adult 0.00
increased memory-marker NK cell number Cog6tm1a(EUCOMM)Wtsi HOM   Early adult 0.00
increased circulating bilirubin level Cog6tm1a(EUCOMM)Wtsi HOM Early adult 1.33×10-06

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lacZ Expression

Expression data not available

Associated Images

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

X-ray

XRay Images Skull Dorso Ventral Orientation

13 Images

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Eye Morphology

Images Slit Lamp

7 Images

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X-ray

XRay Images Forepaw

15 Images

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X-ray

XRay Images Whole Body Dorso Ventral

13 Images

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X-ray

XRay Images Skull Lateral Orientation

14 Images

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X-ray

XRay Images Whole Body Lateral Orientation

13 Images

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Eye Morphology

Images Ophthalmoscopy

2 Images

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Legacy Phenotype Associated Images
Cog6tm1a(EUCOMM)Wtsi
HOM, Male, WTSI
Cog6tm1a(EUCOMM)Wtsi
HOM, Male, WTSI
Cog6tm1a(EUCOMM)Wtsi
HOM, Female, WTSI
Cog6tm1a(EUCOMM)Wtsi
HOM, Female, WTSI
Cog6tm1a(EUCOMM)Wtsi
HOM, Female, WTSI

View all 68 images

Cog6tm1a(EUCOMM)Wtsi
abnormal cornea morphology, HOM, Female, WTSI
Cog6tm1a(EUCOMM)Wtsi
abnormal cornea morphology, HOM, Female, WTSI
Cog6tm1a(EUCOMM)Wtsi
abnormal cornea morphology, HOM, Female, WTSI
Cog6tm1a(EUCOMM)Wtsi
abnormal cornea morphology, HOM, Male, WTSI
Cog6tm1a(EUCOMM)Wtsi
abnormal cornea morphology, HOM, Female, WTSI

View all 9 images

Cog6tm1a(EUCOMM)Wtsi
abnormal coat/hair pigmentation, HOM, Male, WTSI
Cog6tm1a(EUCOMM)Wtsi
abnormal coat/hair pigmentation, HOM, Female, WTSI
Cog6tm1a(EUCOMM)Wtsi
abnormal coat/hair pigmentation, HOM, Female, WTSI
Cog6tm1a(EUCOMM)Wtsi
abnormal tail morphology, kinked tail, HOM, Female, WTSI
Cog6tm1a(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.

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

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

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

Disease Similarity of
phenotypes		 Matching phenotypes Source
Immunodeficiency 79
Decreased proportion of CD4-positive T cells OMIM:619238
Severe Combined Immunodeficiency Due To Foxn1 Deficiency
Ridged nail, Congenital alopecia totalis, T lymphocytopenia, Nail pits ORPHA:169095
Hemophagocytic Syndrome Associated With An Infection
Hepatomegaly, Hyperproteinemia, Neutropenia, Anemia, Splenomegaly, Increased circulating ferritin... ORPHA:158048
Immunodeficiency 15A
Decreased proportion of memory B cells, Decreased proportion of CD4-positive helper T cells, Decr... OMIM:618204
Ras-Associated Autoimmune Leukoproliferative Disorder
Hepatomegaly, Autoimmunity, Neutropenia, Monocytosis, Leukemia, Splenomegaly, Autoimmune thromboc... OMIM:614470
Immunodeficiency 17
Decreased proportion of CD8-positive T cells, Autoimmune hemolytic anemia OMIM:615607
Dysplasia Of Head Of Femur, Meyer Type
Leukocytosis, Delayed femoral head ossification, Enlarged tonsils, Multicentric femoral head ossi... ORPHA:168621
Immunodeficiency 18
Decreased proportion of CD3-positive T cells, Lymphopenia OMIM:615615
Eosinophilia, Familial
Leukocytosis, Eosinophilia, Anemia, Thrombocytopenia OMIM:131400
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Acute lymphoblastic leukemia, Neutropenia, Hepatocellular carcinoma, Anemia, Hyperbilirubinemia, ... ORPHA:158057
Myalgia-Eosinophilia Syndrome Associated With Tryptophan
Eosinophilia, Lymphopenia ORPHA:2582
Lymphoproliferative Syndrome 3
Lymphadenopathy, Reduced natural killer cell count, Hepatosplenomegaly OMIM:618261
Autoinflammation With Infantile Enterocolitis
Anemia, Splenomegaly, Reduced natural killer cell count, Increased circulating ferritin concentra... OMIM:616050
Acute Myelomonocytic Leukemia
Leukocytosis, Eosinophilia, Anemia, Thrombocytopenia ORPHA:517
Cernunnos-Xlf Deficiency
B lymphocytopenia, Autoimmunity, Anemia, Lymphopenia, Thrombocytopenia, T lymphocytopenia ORPHA:169079
Autoimmune Lymphoproliferative Syndrome
Hepatomegaly, Platelet antibody positive, Elevated proportion of CD4-negative, CD8-negative, alph... OMIM:601859
Immunodeficiency 20
Reduced natural killer cell count OMIM:615707
Immunodeficiency 8
Lymphopenia OMIM:615401
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome
Hypoproteinemia, Lymphopenia, Abnormal hair quantity ORPHA:1116
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To
Leukopenia, Monocytosis, Refractory anemia, Systemic lupus erythematosus, Bone marrow hypocellula... OMIM:616871
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes
T lymphocytopenia OMIM:242870
Combined Immunodeficiency, X-Linked
Decreased proportion of CD4-positive helper T cells, Decreased proportion of CD8-positive T cells OMIM:312863
Wiskott-Aldrich Syndrome 2
Thrombocytopenia, Decreased proportion of CD8-positive T cells OMIM:614493
Lymphangiectasia, Intestinal
Intestinal lymphangiectasia, Abnormal hair morphology, Lymphopenia, Neonatal hypoproteinemia OMIM:152800
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
B lymphocytopenia, Impaired lymphocyte transformation with phytohemagglutinin, Hypoplasia of the ... OMIM:619313
Immunodeficiency 40
Lymphopenia OMIM:616433
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Thrombocytosis, Neutropenia, Monocytosis, Congenital agranulocytosis, Anemia, Acute monocytic leu... OMIM:202700
Autoimmune Lymphoproliferative Syndrome, Type Iia
Elevated proportion of CD4-negative, CD8-negative, alpha-beta regulatory T cells, Neutropenia in ... OMIM:603909
Immunodeficiency 14B, Autosomal Recessive
Thrombocytosis, Leukocytosis, B lymphocytopenia, Monocytosis, Neutrophilia OMIM:619281
Immunodeficiency 57 With Autoinflammation
B lymphocytopenia, Reduced natural killer cell count, T lymphocytopenia, Perianal abscess OMIM:618108
Immunodeficiency 24
Decreased CD4:CD8 ratio, Reduced proportion of mucosal-associated invariant T cells, Lymphopenia,... OMIM:615897
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Positive
Lymphadenopathy, Hepatomegaly, T lymphocytopenia, Splenomegaly OMIM:608971
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Neutropenia, Lymphadenopathy, Alopecia, Decreased proportion of CD3-positive T cells, Hepatosplen... ORPHA:169154
T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy
Ridged nail, Nail dystrophy, Alopecia, Decreased helper T cell proportion, T lymphocytopenia, Nai... OMIM:601705
Omenn Syndrome
B lymphocytopenia, Hepatomegaly, Hypoproteinemia, Lymphadenopathy, Hypoplasia of the thymus, Alop... OMIM:603554
Immunodeficiency 19
Lymphopenia OMIM:615617
Juvenile Temporal Arteritis
Leukocytosis, Eosinophilia, Conjunctivitis ORPHA:26137
Neutropenia, Severe Congenital, 2, Autosomal Dominant
B lymphocytopenia, Neutropenia, Monocytosis OMIM:613107
Cinca Syndrome
Leukocytosis, Lymphadenopathy, Anemia, Hepatosplenomegaly, Eosinophilia, Elevated circulating C-r... OMIM:607115
Immunodeficiency 85 And Autoimmunity
Reduced natural killer cell count, Decreased proportion of CD4-positive helper T cells, Lymphopen... OMIM:619510
Immunodeficiency 54
Hepatomegaly, Lymphadenopathy, Hyperpigmentation of the skin, Splenomegaly, Reduced natural kille... OMIM:609981
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality
Thrombocytosis, Macrocytic anemia, Leukopenia, Bone marrow hypocellularity, Erythroid hypoplasia,... ORPHA:86841
Immunodeficiency 88
Eosinophilia OMIM:619630
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant
Abnormally low T cell receptor excision circle level, Nail dystrophy, T lymphocytopenia OMIM:618806
Autosomal Dominant Severe Congenital Neutropenia
Acute lymphoblastic leukemia, Neutropenia, Monocytosis, Leukemia, Antineutrophil antibody positiv... ORPHA:486
Malaria
Thrombocytopenia, Elevated circulating C-reactive protein concentration, Anemia, Hyperbilirubinemia ORPHA:673
Refractory Celiac Disease
Macrocytic anemia, Hypoproteinemia, Normocytic anemia, Iron deficiency anemia, Osteoporosis, Hypo... ORPHA:398063
Adult Idiopathic Neutropenia
Monocytopenia, Neutropenia, Lymphopenia, Monocytosis ORPHA:2688
Ichthyosis-Prematurity Syndrome
Eosinophilia ORPHA:88621
Thrombocytopenia 2
Leukocytosis, Thrombocytopenia OMIM:188000
Cd8 Deficiency, Familial
Absence of CD8-positive T cells OMIM:608957
Aplasia Cutis Congenita With Intestinal Lymphangiectasia
Intestinal lymphangiectasia, Hypoproteinemia, Lymphopenia OMIM:207731
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive
Leukocytosis, Elevated circulating C-reactive protein concentration, Anemia OMIM:619398
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)
T lymphocytopenia, Hypocalcemia DECIPHER:16
Combined Cellular And Humoral Immune Defects With Granulomas
B lymphocytopenia, T lymphocytopenia OMIM:233650
Generalized Eruptive Histiocytosis
Leukemia, Spotty hyperpigmentation, Hypereosinophilia, Histiocytosis ORPHA:157991
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Hepatomegaly, Autoimmunity, Abnormal B cell count, Lymphadenitis, Decreased proportion of CD3-pos... ORPHA:331206
Immunodeficiency 76
B lymphocytopenia, Lymphadenopathy, Splenomegaly, Lymphopenia, T lymphocytopenia OMIM:619164
Immunodeficiency 25
Antimitochondrial antibody positivity, Smooth muscle antibody positivity, Eosinophilia, T lymphoc... OMIM:610163
Immunodeficiency 91 And Hyperinflammation
Hepatomegaly, Monocytosis, Lymphadenopathy, Neutrophilia, Hepatosplenomegaly, Thrombocytopenia, E... OMIM:619644
Congenital Amegakaryocytic Thrombocytopenia
Abnormal form of the vertebral bodies, Anemia, Abnormal hemoglobin, Melanocytic nevus, Decreased ... ORPHA:3319
Infantile Sialic Acid Storage Disease
Hepatomegaly, Vacuolated lymphocytes, Hypopigmentation of the skin, Osteopenia, Splenomegaly, Con... OMIM:269920
Autoimmune Lymphoproliferative Syndrome, Type Iii
Increased B cell count, Hepatomegaly, Autoimmunity, Decreased proportion of class-switched memory... OMIM:615559
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Absent tonsils, B lymphocytopenia, Autoimmunity, Anti-thyroid peroxidase antibody positivity, Lym... ORPHA:277
Immunodeficiency 7
Lymphadenopathy, Autoimmunity, Hypereosinophilia OMIM:615387
Combined Immunodeficiency Due To Zap70 Deficiency
Lymphadenopathy, Lymphadenitis, Absence of CD8-positive T cells, Abnormality of the lymph nodes, ... ORPHA:911
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Absent tonsils, Hepatomegaly, Decreased proportion of naive T cells, Lymph node hypoplasia, Decre... ORPHA:276
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Increased serum iron, Congenital hemolytic anemia, Reduced red cell pyruvate kinase level, Unconj... ORPHA:766
Gaisböck Syndrome
Hyperproteinemia, Increased red blood cell count, Increased circulating renin level, Hyperuricemi... ORPHA:90041
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome
Hypoplasia of the thymus, Decreased proportion of CD4-positive helper T cells, Decreased proporti... OMIM:617241
Aicardi-Goutieres Syndrome 2
Lymphocytosis OMIM:610181
Hermansky-Pudlak Syndrome 2
Hepatomegaly, Neutropenia, Ocular albinism, Aberrant melanosome maturation, Enlarged platelet den... OMIM:608233
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1
Reduced natural killer cell count, T lymphocytopenia OMIM:242860
Immunodeficiency 49
Eosinophilia, Hirsutism, Lymphopenia OMIM:617237
Neutropenia, Lethal Congenital, With Eosinophilia
Eosinophilia, Neutropenia OMIM:257100
Hypereosinophilic Syndrome, Idiopathic
Myeloproliferative disorder, Eosinophilia, Hepatomegaly, Splenomegaly OMIM:607685
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Hepatitis, Decreased proportion of CD3-positive T cells, Hepatosplenomegaly, Lymphopenia, Eosinop... ORPHA:169160
Immunodeficiency 14A, Autosomal Dominant
Increased proportion of transitional B cells, Decreased proportion of class-switched memory B cel... OMIM:615513
Sickle Cell Anemia
Leukocytosis, Abnormality of the spleen, Thrombocytosis, Unconjugated hyperbilirubinemia, Increas... ORPHA:232
Myeloproliferative Disorder, Chronic, With Eosinophilia
Myeloproliferative disorder, Eosinophilia OMIM:131440
Anemia, Congenital Dyserythropoietic, Type Iv
Hepatomegaly, Erythroid hyperplasia, Anemia, Hyperbilirubinemia, Splenomegaly, Reticulocytosis, A... OMIM:613673
Omenn Syndrome
Leukocytosis, Hepatomegaly, Autoimmunity, Lymphadenopathy, Abnormal lymphocyte morphology, Anemia... ORPHA:39041
Eosinophilic Gastroenteritis
Leukocytosis, Anemia, Hypoalbuminemia, Eosinophilia, Elevated circulating C-reactive protein conc... ORPHA:2070
Hyperbilirubinemia, Shunt, Primary
Hepatomegaly, Erythroid hyperplasia, Hyperbilirubinemia, Splenomegaly, Jaundice, Reticulocytosis,... OMIM:237800
Nevoid Hypermelanosis, Linear And Whorled
Eosinophilia, Hyperpigmented streaks OMIM:614323
Candidiasis, Familial, 2
Lymphadenopathy, Hypereosinophilia, Decreased serum iron OMIM:212050
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Leukocytosis, Unconjugated hyperbilirubinemia, Prolonged neonatal jaundice, Decreased glucose-6-p... OMIM:300908
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss
Thrombocytopenia, Neutrophil inclusion bodies, Giant platelets, Leukocyte inclusion bodies OMIM:155100
Glutathione Peroxidase Deficiency
Neonatal hyperbilirubinemia, Heinz bodies, Compensated hemolytic anemia OMIM:614164
Platelet Glycoprotein Iv Deficiency
Thrombocytopenia, Giant platelets OMIM:608404
Macrophage Activation Syndrome
Hepatomegaly, Autoimmunity, Neutropenia, Lymphadenopathy, Hepatitis, Anemia, Systemic lupus eryth... ORPHA:158061
Immunodeficiency 72 With Autoinflammation
Increased B cell count, Hepatosplenomegaly, Increased proportion of memory T cells, Lymphadenopathy OMIM:618982
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Hepatomegaly, Neutropenia, Leukopenia, Monocytosis, Hypoplasia of the thymus, Anemia, Erythroid h... OMIM:612541
Fechtner syndrome
Neutrophil inclusion bodies, Developmental cataract, Leukocyte inclusion bodies, Giant platelets,... OMIM:153640
Pelger-Huet Anomaly
Neutropenia, Hyposegmentation of neutrophil nuclei, Kyphosis, Giant platelets, Thrombocytopenia, ... OMIM:169400
Pgm3-Cdg
Abnormal CD4:CD8 ratio, Autoimmunity, Neutropenia, Abnormal proportion of CD8-positive T cells, L... ORPHA:443811
Myh9-Related Disease
Presenile cataracts, Neutrophil inclusion bodies, Increased mean platelet volume, Giant platelets... ORPHA:182050
Primary Intestinal Lymphangiectasia
Hypoproteinemia, Abnormal lymphatic vessel morphology, Anemia, Hypocalcemia, Reduced proportion o... ORPHA:90362
Holoprosencephaly, Recurrent Infections, And Monocytosis
Monocytosis OMIM:610680
Immunodeficiency 11B With Atopic Dermatitis
Eosinophilia OMIM:617638
Hemophagocytic Lymphohistiocytosis, Familial, 1
Hepatomegaly, Hyponatremia, Decreased HDL cholesterol concentration, Hypoproteinemia, Leukopenia,... OMIM:267700
Slc35A1-Cdg
Thrombocytopenia, Abnormal platelet granules, Giant platelets, Neutropenia ORPHA:238459
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 1
Elevated circulating creatine kinase concentration, Eosinophilia OMIM:253600
Idiopathic Chronic Eosinophilic Pneumonia
Leukocytosis, Autoimmunity, Hypereosinophilia, Elevated circulating C-reactive protein concentration ORPHA:2902
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive
B lymphocytopenia, T lymphocytopenia, Conjunctivitis OMIM:601457
Hemoglobin E-Beta-Thalassemia Syndrome
Anemia, Increased circulating ferritin concentration, Abnormal hemoglobin ORPHA:231249
Macrothrombocytopenia and progressive sensorineural deafness
Thrombocytopenia, Macrothrombocytopenia, Giant platelets OMIM:600208
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Autoimmunity, Lymphadenopathy, Hepatitis, Systemic lupus erythematosus, Splenomegaly, Autoimmune ... ORPHA:444463
X-Linked Lymphoproliferative Disease
Autoimmunity, Lymphadenopathy, Splenomegaly, Absent natural killer cells, Increased circulating f... ORPHA:2442
Hepatoportal Sclerosis
Leukopenia, Hepatocellular carcinoma, Anticardiolipin IgM antibody positivity, Anticardiolipin Ig... ORPHA:64743
Sebastian syndrome
Thrombocytopenia, Neutrophil inclusion bodies, Giant platelets, Leukocyte inclusion bodies OMIM:605249
Relapsing Fever
Leukocytosis, Leukopenia, Elevated circulating creatinine concentration, Anemia, Increased total ... ORPHA:91547
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Pancytopenia, Hypersplenism, Decreased helper T cell proportion, Splenomegaly OMIM:183350
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities
Cervical instability, Kyphoscoliosis, Hepatic cysts, Platyspondyly, Lymphopenia, Delayed ossifica... OMIM:617425
Hemolytic Anemia Due To Glutathione Reductase Deficiency
Fava bean-induced hemolytic anemia, Cataract, Hyperbilirubinemia OMIM:618660
Hyper-Ige Recurrent Infection Syndrome 4B, Autosomal Recessive
Craniosynostosis, Keratitis, Scoliosis, Eosinophilia, Thoracolumbar scoliosis OMIM:618523
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency
Hypopigmentation of hair, Partial albinism, Neutropenia ORPHA:90023
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis
Absent tonsils, Abnormality of the tonsils, Decreased proportion of CD4-positive helper T cells, ... OMIM:611926
Immunodeficiency 21
Abnormal natural killer cell morphology, Neutropenia, Lymphopenia, Myeloid leukemia, Monocytopeni... OMIM:614172
Multiple Myeloma
Hyperproteinemia, Hypercalcemia, Lymphadenopathy, Elevated circulating creatinine concentration, ... ORPHA:29073
Bleeding Disorder, Platelet-Type, 24
Increased mean platelet volume, Impaired epinephrine-induced platelet aggregation, Impaired arach... OMIM:619271
Hyper-Ige Recurrent Infection Syndrome 1, Autosomal Dominant
Eosinophilia, Craniosynostosis, Scoliosis, Osteopenia OMIM:147060
Enteropathy, Familial, With Villous Edema And Immunoglobulin G2 Deficiency
Hypoproteinemia, Neutropenia, Hypoalbuminemia OMIM:600351
Hyper-Ige Recurrent Infection Syndrome 2, Autosomal Recessive
Eosinophilia OMIM:243700
Red Cell Phospholipid Defect With Hemolysis
Reticulocytosis, Hyperbilirubinemia, Intermittent jaundice, Splenomegaly OMIM:179700
Griscelli Syndrome, Type 2
Silver-gray hair, Hypopigmentation of the skin, Hepatosplenomegaly, Accumulation of melanosomes i... OMIM:607624
Anemia, Congenital Dyserythropoietic, Type Ib
Hepatomegaly, Small nail, Erythroid hyperplasia, Anemia, Splenomegaly, Jaundice, Anisocytosis, Po... OMIM:615631
Macrosomia Adiposa Congenita
Eosinophilia OMIM:248100
Bleeding Disorder, Platelet-Type, 16
Anemia, Giant platelets, Thrombocytopenia, Macrothrombocytopenia, Platelet anisocytosis, Impaired... OMIM:187800
Hyper-Ige Recurrent Infection Syndrome 3, Autosomal Recessive
Eosinophilia, Alopecia OMIM:618282
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
B lymphocytopenia, Hepatomegaly, Reduced red cell adenosine deaminase level, Platyspondyly, Splen... OMIM:102700
Intellectual Developmental Disorder With Speech Delay, Dysmorphic Facies, And T-Cell Abnormalities
Eosinophilia, Thin eyebrow OMIM:618092
Progressive Multifocal Leukoencephalopathy
Decreased proportion of CD8-positive T cells, Abnormal proportion of CD4-positive T cells ORPHA:217260
Immunodeficiency 13
B lymphocytopenia, Decreased proportion of CD4-positive helper T cells, Lymphopenia, Decreased CD... OMIM:615518
T-Cell Immunodeficiency, Recurrent Infections, And Autoimmunity With Or Without Cardiac Malformations
Neutropenia, Lymphopenia OMIM:614868
Syndromic Diarrhea
Thrombocytosis, Hepatomegaly, Increased mean platelet volume, Abnormality of iron homeostasis, He... ORPHA:84064
Wolcott-Rallison Syndrome
Hepatomegaly, Hyponatremia, Neutropenia, Iron deficiency anemia, Hyperbilirubinemia, Hyperammonem... ORPHA:1667
Hemophagocytic Lymphohistiocytosis, Familial, 2
Hepatomegaly, Hyponatremia, Hypoproteinemia, Leukopenia, Lymphadenopathy, Anemia, Increased total... OMIM:603553
Immunodeficiency 50
Neutropenia, Lymphopenia OMIM:300988
Dengue Fever
Hypoproteinemia, Thrombocytopenia, Hepatomegaly, Leukopenia ORPHA:99828
Halothane Hepatitis
Viral hepatitis, Eosinophilia, Hepatitis, Jaundice OMIM:234350
Combined Immunodeficiency With Faciooculoskeletal Anomalies
B lymphocytopenia, Hypertrichosis, Hyperpigmentation of the skin, Osteopenia, Reduced natural kil... ORPHA:221139
Giant platelet syndrome with thrombocytopenia
Thrombocytopenia, Giant platelets OMIM:137560
Roifman Syndrome
Delayed proximal femoral epiphyseal ossification, Prominent eyelashes, Lymphadenopathy, Hepatospl... ORPHA:353298
Immunodeficiency 52
Coombs-positive hemolytic anemia, Increased proportion of gamma-delta T cells, Lymphadenopathy, S... OMIM:617514
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Hypoplasia of the thymus, Lymphopenia OMIM:200900
Bleeding Disorder, Platelet-Type, 15
Thrombocytopenia, Increased mean platelet volume, Platelet anisocytosis OMIM:615193
Immunodeficiency 69
Thrombocytosis, Leukocytosis, Anemia, Splenomegaly, Increased circulating ferritin concentration,... OMIM:618963
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia
Decreased mean platelet volume, Thrombocytopenia, Lymphocytosis, Lymphadenopathy OMIM:617718
Immunodeficiency 68
B lymphocytopenia, Lymphadenitis, Abscess, T lymphocytopenia, Abnormal natural killer cell count OMIM:612260
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Mediastinal lymphadenopathy, Lymphadenopathy, Splenomegaly, Autoimmune thrombocytopenia, Decrease... OMIM:300853
Roifman Syndrome
Hepatomegaly, Prominent eyelashes, Lymphadenopathy, Irregular vertebral endplates, Splenomegaly, ... OMIM:616651
Macrothrombocytopenia, Autosomal Dominant, Tubb1-Related
Macrothrombocytopenia OMIM:613112
B-Cell Expansion With Nfkb And T-Cell Anergy
Increased B cell count, Splenomegaly OMIM:616452
Acquired Partial Lipodystrophy
Hepatic steatosis, Autoimmunity, Lymphocytosis, Generalized hirsutism ORPHA:79087
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
B lymphocytopenia, Neutropenia, Leukopenia, Lymphadenitis, Abnormally low T cell receptor excisio... OMIM:618986
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
Impaired lymphocyte transformation with phytohemagglutinin, Absent natural killer cells, Lymphope... OMIM:600802
Thrombocytopenia With Congenital Dyserythropoietic Anemia
Hypochromic anemia, Anisocytosis, Poikilocytosis, Macrothrombocytopenia, Anemia of inadequate pro... ORPHA:67044
Anemia, Congenital Dyserythropoietic, Type Ia
Prolonged neonatal jaundice, Erythroid hyperplasia, Splenomegaly, Anisocytosis, Poikilocytosis, R... OMIM:224120
Immunodeficiency 23
Neutropenia, Abscess, Rheumatoid factor positive, Lymphopenia, Eosinophilia, Hemolytic anemia, Sc... OMIM:615816
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Anti-glutamic acid decarboxylase antibody positivity, Neutropenia, Coombs-positive hemolytic anem... OMIM:304790
Autoimmune Lymphoproliferative Syndrome
Autoimmunity, Elevated proportion of CD4-negative, CD8-negative, alpha-beta regulatory T cells, N... ORPHA:3261
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia
Abnormally low T cell receptor excision circle level, B lymphocytopenia, Cervical lymphadenopathy OMIM:618987
Systemic Mastocytosis With Associated Hematologic Neoplasm
Leukocytosis, Chronic lymphatic leukemia, Hepatomegaly, Normocytic anemia, Lymphadenopathy, Normo... ORPHA:98849
Autoinflammation With Arthritis And Dyskeratosis
Keratoconjunctivitis sicca, Hepatomegaly, Corneal neovascularization, Punctate keratitis, Splenom... OMIM:617388
Combined Immunodeficiency Due To Dock8 Deficiency
B lymphocytopenia, T lymphocytopenia ORPHA:217390
Immunodeficiency By Defective Expression Of Mhc Class Ii
Abnormal CD4:CD8 ratio, Autoimmunity, Neutropenia, Neutropenia in presence of anti-neutropil anti... ORPHA:572
Hemoglobin D Disease
Reduced alpha/beta synthesis ratio, Imbalanced hemoglobin synthesis, Sickled erythrocytes, Anemia... ORPHA:90039
Bernard-Soulier Syndrome
Thrombocytopenia, Giant platelets, Impaired ristocetin-induced platelet aggregation OMIM:231200
Osteopetrosis, Autosomal Recessive 5
Hepatomegaly, Osteopetrosis, Anemia, Decreased osteoclast count, Hyperbilirubinemia, Splenomegaly... OMIM:259720
Cyclic Neutropenia
Peritonitis, Lymphadenopathy, Perianal abscess, Lymphopenia, Cyclic neutropenia, Recurrent tonsil... ORPHA:2686
Combined Immunodeficiency Due To Partial Rag1 Deficiency
B lymphocytopenia, Autoimmunity, Neutropenia in presence of anti-neutropil antibodies, Splenomega... ORPHA:231154
Sitosterolemia 1
Stomatocytosis, Episodic hemolytic anemia, Elevated circulating sitosterol concentration, Splenom... OMIM:210250
Acute Peripheral Arterial Occlusion
Leukocytosis ORPHA:90064
Eosinophilopenia
Autoimmunity, Decreased eosinophil count OMIM:131430
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency
B lymphocytopenia, Impaired lymphocyte transformation with phytohemagglutinin, Hyperpigmentation ... ORPHA:35078
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked
Thrombocytopenia, Increased mean platelet volume OMIM:300048
Neutrophil Immunodeficiency Syndrome
Leukocytosis, Abnormality of neutrophil physiology ORPHA:183707
Persistent Polyclonal B-Cell Lymphocytosis
Hepatomegaly, Lymphocytosis, Splenomegaly OMIM:606445
Wells Syndrome
Eosinophilia ORPHA:901
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Hepatomegaly, Hypochromia, Erythroid hyperplasia, Elevated hepatic iron concentration, Anemia, Sp... OMIM:616860
Megaloblastic Anemia, Folate-Responsive
Hyperhomocystinemia, Schistocytosis, Episodic hemolytic anemia, Hyperbilirubinemia, Increased cir... OMIM:601775
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Hepatomegaly, Anemia, Abnormal bone structure, Persistence of hemoglobin F, Splenomegaly ORPHA:46532
Kimura Disease
Lymphadenopathy, Eosinophilia, Follicular hyperplasia ORPHA:482
Immunodeficiency 31C
Autoimmunity, Lymphopenia, Osteopenia, Autoimmune hemolytic anemia OMIM:614162
Igg4-Related Aortitis
Autoimmunity, Cytoplasmic antineutrophil antibody positivity, Hypereosinophilia, Elevated circula... ORPHA:449400
Chédiak-Higashi Syndrome
Neutropenia, Abnormal platelet function, Lymphadenopathy, Splenomegaly, Increased circulating fer... ORPHA:167
Harderoporphyria
Hepatomegaly, Prolonged neonatal jaundice, Neonatal hyperbilirubinemia, Hyperpigmentation of the ... OMIM:618892
Myeloproliferative Syndrome, Transient
Leukocytosis, Transient myeloproliferative syndrome OMIM:159595
Selective Igm Deficiency
Autoimmunity, Neutropenia in presence of anti-neutropil antibodies, Lymphadenopathy, Lymphadeniti... ORPHA:331235
Eosinophilic Fasciitis
Abnormal eosinophil morphology, Eosinophilia ORPHA:3165
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Macrocytic anemia, Neutropenia, Abnormal reticulocyte morphology, Abnormal platelet morphology, A... OMIM:300835
Hemochromatosis, Type 3
Increased serum iron, Neutropenia, Hyperpigmentation of the skin, Anemia, Elevated transferrin sa... OMIM:604250
Lymphoproliferative Syndrome 1
Hepatomegaly, Autoimmunity, Leukopenia, Lymphadenopathy, Anemia, Splenomegaly, Increased circulat... OMIM:613011
Epidermodysplasia Verruciformis, Susceptibility To, 5
T lymphocytopenia, Lymphopenia OMIM:618309
Congenital Erythropoietic Porphyria
Unconjugated hyperbilirubinemia, Hyperpigmentation of the skin, Splenomegaly, Hemolytic anemia, O... ORPHA:79277
Autoimmune Disease, Multisystem, Infantile-Onset, 2
Increased CD4:CD8 ratio, Impaired lymphocyte transformation with phytohemagglutinin, Autoimmunity OMIM:617006
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis
Plasmacytosis, Lymphopenia, Autoimmune hemolytic anemia OMIM:247800
Immunodeficiency 84
B lymphocytopenia, Perianal abscess, Splenomegaly OMIM:619437
Hemoglobin-Delta locus
Imbalanced hemoglobin synthesis, Anemia OMIM:142000
Severe Combined Immunodeficiency, X-Linked
Hepatomegaly, Impaired lymphocyte transformation with phytohemagglutinin, T lymphocytopenia, Hypo... OMIM:300400
Bone Marrow Failure Syndrome 6
Neutropenia, Increased mean corpuscular volume, Anemia, Bone marrow hypocellularity, Persistence ... OMIM:618849
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Portal hypertension, Hepatomegaly, Absence of lymph node germinal center, Anemia, Jaundice, Hepat... ORPHA:79124
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Abnormal platelet function, Anemia, Abnormal hemoglobin, Splenomegaly, Thrombocytopenia ORPHA:231393
Immunodeficiency 64
Abnormal CD4:CD8 ratio, Anti-thyroid peroxidase antibody positivity, Mediastinal lymphadenopathy,... OMIM:618534
Incontinentia Pigmenti
Atrophic, patchy alopecia, Leukocytosis, Fine hair, Hypoplastic nipples, Sparse hair, Hemivertebr... OMIM:308300
Lymphoid System Deterioration, Progressive
Abnormal T cell morphology, Lymphopenia OMIM:247630
Cystic Echinococcosis
Abnormality of the vertebral column, Hepatomegaly, Bone cyst, Splenic cyst, Peritoneal abscess, B... ORPHA:400
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Hepatomegaly, Hypoplasia of the odontoid process, Increased intervertebral space, Cervical instab... ORPHA:508533
Drug Reaction With Eosinophilia And Systemic Symptoms
Lymphadenopathy, Eosinophilia, Lymphocytosis, Hepatitis ORPHA:139402
Immunodeficiency 27A
Thrombocytosis, Leukocytosis, Enlarged mesenteric lymph node, Lymphadenopathy, Anemia, Rheumatoid... OMIM:209950
Juvenile Arthritis
Thrombocytosis, Leukocytosis, Antinuclear antibody positivity OMIM:618795
Hermansky-Pudlak Syndrome 3
Hypopigmentation of hair, Abnormal number of dense granules, Hypopigmentation of the skin OMIM:614072
Spondyloenchondrodysplasia With Immune Dysregulation
Autoimmunity, Neutropenia, Hypopigmented skin patches on arms, Increased intervertebral space, Ir... OMIM:607944
Burkitt Lymphoma
Abnormality of the spleen, Abnormality of the lymph nodes, Abnormality of the pancreas, Abnormali... ORPHA:543
Mu-Heavy Chain Disease
Hepatomegaly, Abnormal B cell count, Lymphadenopathy, Osteoporosis, Anemia, Splenomegaly, Osteolysis ORPHA:100024
Reticular Dysgenesis
Hypoplasia of the thymus, Lymphopenia, Congenital agranulocytosis, Leukopenia OMIM:267500
Polycythemia Vera
Thrombocytosis, Leukocytosis, Increased red blood cell mass, Splenomegaly, Increased hematocrit, ... OMIM:263300
Autoinflammatory Syndrome, Familial, Behcet-Like
Thrombocytopenia, Lymphopenia, Lupus anticoagulant, Hemolytic anemia, Antinuclear antibody positi... OMIM:616744
Trichohepatoenteric Syndrome 1
Increased serum iron, Thrombocytosis, Hepatomegaly, Increased mean platelet volume, Abnormality o... OMIM:222470
Immunodeficiency 82 With Systemic Inflammation
B lymphocytopenia, Decreased proportion of naive T cells, Elevated circulating C-reactive protein... OMIM:619381
Esophagitis, Eosinophilic, 1
Eosinophilia OMIM:610247
Esophagitis, Eosinophilic, 2
Eosinophilia OMIM:613412
Iron-Refractory Iron Deficiency Anemia
Anisocytosis, Poikilocytosis, Hypochromic microcytic anemia, Elevated hepcidin level OMIM:206200
Thalassemia, Beta+, Silent Allele
Reduced beta/alpha synthesis ratio OMIM:187550
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin
Anisocytosis, Poikilocytosis, Oval macrocytosis, Anemia of inadequate production OMIM:603529
Wiskott-Aldrich Syndrome
Absent microvilli on the surface of peripheral blood lymphocytes, Impaired lymphocyte transformat... OMIM:301000
Dehydrated Hereditary Stomatocytosis 2
Hepatomegaly, Anisopoikilocytosis, Increased mean corpuscular volume, Acanthocytosis, Hyperbiliru... OMIM:616689
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency
Reticulocytosis, Hemolytic anemia, Decreased hemoglobin concentration, Hyperbilirubinemia ORPHA:713
Ataxia-Telangiectasia
Lymphopenia, Aplasia/Hypoplasia of the thymus, Multiple cafe-au-lait spots, Hypopigmentation of h... ORPHA:100
Aspergillosis
Abnormality of the vertebral column, Neutropenia, Hepatitis, Keratitis, Eosinophilia ORPHA:1163
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Hemolytic anemia, B lymphocytopenia, Lymphadenopathy, Decreased proportion of CD4+CD25+ regulator... OMIM:606367
Lathosterolosis
Increased mean platelet volume, Anisopoikilocytosis, Schistocytosis, Abnormal circulating cholest... OMIM:607330
Bile Acid Synthesis Defect, Congenital, 5
Hepatomegaly, Portal fibrosis, Hepatic fibrosis, Iron deficiency anemia, Increased total iron bin... OMIM:616278
Schnitzler Syndrome
Leukocytosis, Hepatomegaly, Lymphadenopathy, Anemia, Splenomegaly, Increased bone mineral density ORPHA:37748
O'Sullivan-Mcleod Syndrome
Eosinophilia ORPHA:99965
Purine Nucleoside Phosphorylase Deficiency
Abnormal T cell morphology, Hypouricemia, Autoimmunity, Systemic lupus erythematosus, Decreased p... ORPHA:760
Familial Cold Autoinflammatory Syndrome 2
Lymphadenopathy, Leukocytosis, Elevated circulating C-reactive protein concentration, Splenomegaly OMIM:611762
Hereditary Folate Malabsorption
Pancytopenia, Thrombocytopenia, Eosinophilia, Megaloblastic anemia ORPHA:90045
Congenital Dyserythropoietic Anemia Type Iii
Increased serum iron, Increased mean corpuscular volume, Anemia, Hyperbilirubinemia, Anisocytosis... ORPHA:98870
Immunodeficiency 89 And Autoimmunity
Hypochromic microcytic anemia, Rheumatoid factor positive, Anti-thyroglobulin antibody positivity... OMIM:619632
Alpha-Thalassemia-Myelodysplastic Syndrome
Neutropenia, Acute leukemia, Splenomegaly, Microcytic anemia, Thrombocytopenia, HbH hemoglobin ORPHA:231401
Fetal Hemoglobin Quantitative Trait Locus 1
Persistence of hemoglobin F OMIM:141749
Acquired Idiopathic Sideroblastic Anemia
Leukocytosis, Thrombocytosis, Hepatomegaly, Neutropenia, Normocytic anemia, Megaloblastic erythro... ORPHA:75564
Rh Deficiency Syndrome
Hemolytic anemia, Macrocytic anemia, Reduced haptoglobin level, Hypochromia, Positive direct anti... ORPHA:71275
Autosomal Dominant Hyper-Ige Syndrome
Abnormal hair morphology, Dystrophic fingernails, Craniosynostosis, Osteopenia, Paronychia, Eosin... ORPHA:2314
Late-Onset Isolated Acth Deficiency
Macrocytic anemia, Hyponatremia, Hypercalcemia, Normocytic anemia, Generalized bone demineralizat... ORPHA:199299
Dehydrated Hereditary Stomatocytosis
Congenital hemolytic anemia, Macrocytic anemia, Schistocytosis, Increased mean corpuscular volume... ORPHA:3202
Idiopathic Acute Eosinophilic Pneumonia
Abnormal eosinophil morphology ORPHA:724
Glycogen Storage Disease Vii
Cholelithiasis, Increased total bilirubin, Hyperuricemia, Reticulocytosis, Reduced erythrocyte 2,... OMIM:232800
Agammaglobulinemia 8, Autosomal Dominant
B lymphocytopenia OMIM:616941
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Thrombocytosis, Hypoproteinemia, Hepatomegaly, Iron deficiency anemia, Hypoalbuminemia OMIM:226300
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia
Thrombocytosis, Macrocytic anemia, Autoimmunity, Megaloblastic anemia, Lymphopenia, Pancytopenia,... OMIM:617780
Progeria-Short Stature-Pigmented Nevi Syndrome
Hyperpigmented nevi, Alopecia, Neoplasm of the pancreas, Osteopenia, Hepatic steatosis, Microcyti... ORPHA:2959
Schimke Immunoosseous Dysplasia
Abnormal T cell morphology, Fine hair, Opacification of the corneal stroma, Neutropenia, Coarse h... OMIM:242900
Hereditary Elliptocytosis
Congenital hemolytic anemia, Prolonged neonatal jaundice, Neonatal hyperbilirubinemia, Stomatocyt... ORPHA:288
Netherton Syndrome
Brittle hair, Sparse scalp hair, Hypereosinophilia, Brittle scalp hair, Sparse and thin eyebrow OMIM:256500
Autoinflammation, Immune Dysregulation, And Eosinophilia
Hepatosplenomegaly, Eosinophilia, Hepatic cysts, Eosinophilic liver infiltration OMIM:618999
Caroli Syndrome
Abnormality of the intrahepatic bile duct, Leukocytosis, Cholangitis, Hepatomegaly, Cholangiocarc... ORPHA:480520
Griscelli Syndrome Type 2
Hepatomegaly, Partial albinism, Neutropenia, Hyperlipidemia, Lymphadenopathy, Splenomegaly, Iris ... ORPHA:79477
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Abnormal CD4:CD8 ratio, B lymphocytopenia, Neutropenia, Lymphadenopathy, Abscess, Splenomegaly, I... OMIM:150550
Wiskott-Aldrich Syndrome, Autosomal Dominant
Absent microvilli on the surface of peripheral blood lymphocytes, Iron deficiency anemia, Decreas... OMIM:600903
Hereditary Spherocytosis
Hepatomegaly, Anemia, Cholelithiasis, Hyperbilirubinemia, Splenomegaly, Extramedullary hematopoie... ORPHA:822
Dominant Beta-Thalassemia
Abnormality of iron homeostasis, Hypochromic microcytic anemia, Hepatic fibrosis, Hepatocellular ... ORPHA:231226
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency
Normocytic anemia, Normochromic anemia, Cholelithiasis, Hyperbilirubinemia, Splenomegaly, Nonsphe... OMIM:235700
Immunodeficiency 70
B lymphocytopenia, Decreased proportion of CD4-positive helper T cells OMIM:618969
Methemoglobinemia, Beta Type
Methemoglobinemia OMIM:617971
Methemoglobinemia, Alpha Type
Methemoglobinemia OMIM:617973
Takenouchi-Kosaki Syndrome
Highly arched eyebrow, Increased mean platelet volume, Sparse eyebrow, Thrombocytopenia, Scoliosi... OMIM:616737
Familial Cold Autoinflammatory Syndrome 1
Leukocytosis, Elevated circulating C-reactive protein concentration, Conjunctivitis OMIM:120100
Leptospirosis
Conjunctival hyperemia, Hepatomegaly, Hyperproteinemia, Lymphadenopathy, Hepatitis, Thrombocytope... ORPHA:509
Scleroderma
Autoimmunity, Spotty hypopigmentation, Elevated circulating creatine kinase concentration, Alopec... ORPHA:801
Unclassified Myelodysplastic Syndrome
Leukocytosis, Autoimmunity, Acute myeloid leukemia, Bone marrow hypocellularity ORPHA:98827
Hemoglobin H Disease
Hepatomegaly, Reduced alpha/beta synthesis ratio, HbH hemoglobin, Splenomegaly, Hemolytic anemia OMIM:613978
Spherocytosis, Type 4
Hyperbilirubinemia, Splenomegaly, Spherocytosis, Reticulocytosis, Hemolytic anemia, Jaundice OMIM:612653
Muckle-Wells Syndrome
Conjunctival hyperemia, Leukocytosis, Elevated circulating C-reactive protein concentration, Conj... OMIM:191900
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Hepatomegaly, Hepatocellular necrosis, Depletion of mitochondrial DNA in liver, Micronodular cirr... OMIM:251880
Alveolar Echinococcosis
Cholangitis, Biliary cirrhosis, Bone cyst, Pancreatic cysts, Abnormality of mesentery morphology,... ORPHA:284
Hemophagocytic Lymphohistiocytosis, Familial, 3
Anemia, Hepatosplenomegaly, Hypertriglyceridemia, Granulocytopenia, Hemophagocytosis OMIM:608898
Mucoepithelial Dysplasia, Hereditary
Chronic monilial nail infection, Nail dystrophy, Alopecia, Coarse hair, Nail dysplasia, Cataract,... OMIM:158310
Cartilage-Hair Hypoplasia
Fine hair, Macrocytic anemia, Impaired lymphocyte transformation with phytohemagglutinin, Sparse ... OMIM:250250
Spherocytosis, Type 2
Acanthocytosis, Hyperbilirubinemia, Splenomegaly, Spherocytosis, Reticulocytosis, Hemolytic anemi... OMIM:616649
Noonan Syndrome 12
Thrombocytopenia, Spinal canal stenosis, Lymphopenia OMIM:618624
Ataxia-Telangiectasia
Abnormal hair morphology, Leukemia, Hypoplasia of the thymus, Conjunctival telangiectasia, Elevat... OMIM:208900
Immunodeficiency 81
Decreased proportion of class-switched memory B cells, Recurrent cutaneous abscess formation, Abs... OMIM:619374
Diffuse Alveolar Hemorrhage
Leukocytosis, Autoimmunity, Antineutrophil antibody positivity, Elevated circulating creatinine c... ORPHA:90060
Spherocytosis, Type 1
Cholelithiasis, Hyperbilirubinemia, Splenomegaly, Spherocytosis, Reticulocytosis, Hemolytic anemi... OMIM:182900
Aregenerative Anemia
Neutropenia, Abnormal proportion of CD8-positive T cells, Lymphadenopathy, Bone marrow hypocellul... ORPHA:101096
Overhydrated Hereditary Stomatocytosis
Stomatocytosis, Abnormal mean corpuscular volume, Splenomegaly, Anisocytosis, Reticulocytosis, He... ORPHA:3203
Immunoglobulin A Deficiency 2
Autoimmunity, Abnormal lymphocyte morphology OMIM:609529
Sting-Associated Vasculopathy, Infantile-Onset
Thrombocytosis, Sparse hair, Leukopenia, Nail dystrophy, Paratracheal lymphadenopathy, Anemia, Rh... OMIM:615934
Cinca Syndrome
Leukocytosis, Hepatomegaly, Abnormality of thrombocytes, Lymphadenopathy, Anemia, Abnormal granul... ORPHA:1451
Acute Monoblastic/Monocytic Leukemia
Leukocytosis, Anemia, Hypochromic anemia, Lymphocytosis, Acute monocytic leukemia, Cervical lymph... ORPHA:514
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant
Stomatocytosis, Hemolytic anemia, Increased mean platelet volume, Splenomegaly OMIM:153670
Transcobalamin Deficiency
Pancytopenia, Thrombocytopenia, Neutropenia, Lymphopenia ORPHA:859
Hypermanganesemia With Dystonia 1
Hepatomegaly, Unconjugated hyperbilirubinemia, Polycythemia, Hypermanganesemia, Cirrhosis, Increa... OMIM:613280
Bleeding Disorder, Platelet-Type, 19
Macrothrombocytopenia, Anemia OMIM:616176
Overhydrated Hereditary Stomatocytosis
Hepatomegaly, Stomatocytosis, Hyperbilirubinemia, Splenomegaly, Reticulocytosis, Hemolytic anemia... OMIM:185000
Pseudo-Torch Syndrome 3
Leukocytosis, Lymphadenitis, Anemia, Increased circulating ferritin concentration, Congenital thr... OMIM:618886
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency
Hepatomegaly, Decreased proportion of class-switched memory B cells, Spondylitis, Decreased propo... OMIM:619375
X-Linked Severe Congenital Neutropenia
Monocytopenia, Neutropenia ORPHA:86788
Beta-Thalassemia Intermedia
Leukocytosis, Hepatomegaly, Abnormality of iron homeostasis, Erythroid hyperplasia, Elevated hepa... ORPHA:231222
Beta-Thalassemia
Hepatomegaly, Abnormality of iron homeostasis, Hepatitis, Anemia, Abnormal hemoglobin, Cholelithi... ORPHA:848
Griscelli Syndrome
Hypopigmented skin patches, Hepatomegaly, Leukopenia, Silver-gray hair, Lymphadenopathy, Abnormal... ORPHA:381
Lymphoproliferative Syndrome, X-Linked, 1
Hepatomegaly, Neutropenia, Lymphadenopathy, Fulminant hepatitis, Splenomegaly, Lymphocytosis, Pan... OMIM:308240
Refractory Anemia With Excess Blasts
Leukocytosis, Abnormal mean corpuscular volume, Bone marrow hypocellularity, Abnormal circulating... ORPHA:86839
Mixed-Type Autoimmune Hemolytic Anemia
Autoimmunity, Systemic lupus erythematosus, Increased total bilirubin, Autoimmune hemolytic anemia ORPHA:90036
Loeffler Endocarditis
Eosinophilia ORPHA:75566
Incontinentia Pigmenti
Hypopigmented skin patches, Broad nail, Abnormal hair morphology, Dystrophic toenail, Abnormality... ORPHA:464
Thymic Aplasia
Autoimmunity, Decreased proportion of naive T cells, Hypocalcemic tetany, Coombs-positive hemolyt... ORPHA:83471
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Leukocytosis, Hyponatremia, Unconjugated hyperbilirubinemia, Schistocytosis, Microangiopathic hem... ORPHA:90038
Congenital Disorder Of Glycosylation, Type Iir
Hepatomegaly, Micronodular cirrhosis, Hepatic steatosis, Decreased proportion of CD4-positive T c... OMIM:301045
Ménétrier Disease
Hypoproteinemia, Hypochromic microcytic anemia, Hypoalbuminemia ORPHA:2494
Immunodeficiency 22
Autoimmunity, Decreased proportion of CD4-positive helper T cells OMIM:615758
Caroli Disease
Leukocytosis, Cholangitis, Hepatomegaly, Cholangiocarcinoma, Hepatic fibrosis, Cholelithiasis, Sp... ORPHA:53035
Autoimmune Hemolytic Anemia, Cold Type
Autoimmunity, Hemolytic anemia, Abnormal leukocyte morphology, Splenomegaly ORPHA:228312
Johanson-Blizzard Syndrome
Hypoproteinemia, Alopecia, Anemia, Abnormal hair pattern, Abnormality of the pancreas, Exocrine p... ORPHA:2315
Fumarase Deficiency
Polycythemia, Cholestasis, Hyperbilirubinemia OMIM:606812
Cyanosis, Transient Neonatal
Hepatomegaly, Methemoglobinemia, Anemia, Reticulocytosis, Jaundice OMIM:613977
Congenital Bile Acid Synthesis Defect Type 2
Abnormality of the intrahepatic bile duct, Hepatomegaly, Giant cell hepatitis, Abnormal serum bil... ORPHA:79303
Igg4-Related Pachymeningitis
Lymphadenitis, Pancreatitis, Abnormality of the cervical spine, Eosinophilia, Elevated circulatin... ORPHA:449427
Leukocyte Adhesion Deficiency, Type Iii
Leukocytosis, Hepatomegaly, Osteopetrosis, Anemia, Abnormality of the lymph nodes, Splenomegaly, ... OMIM:612840
Acute Panmyelosis With Myelofibrosis
Acute myelomonocytic leukemia, Bone marrow hypocellularity, Myelofibrosis, Splenomegaly, Acute my... ORPHA:86843
Pyruvate Kinase Deficiency Of Red Cells
Unconjugated hyperbilirubinemia, Cholelithiasis, Splenomegaly, Chronic hemolytic anemia, Cholecys... OMIM:266200
Solute carrier family 4 (anion exchanger), member 1
Hemolytic anemia, Acanthocytosis, Stomatocytosis, Hyperbilirubinemia, Splenomegaly, Jaundice, Ret... OMIM:109270
Acetophenetidin Sensitivity
Methemoglobinemia, Hemolytic anemia OMIM:200300
Iga Pemphigus
Autoimmune antibody positivity, Eosinophilia, Cutaneous abscess ORPHA:555905
Tularemia
Brain abscess, Leukocytosis, Conjunctival hyperemia, Mediastinal lymphadenopathy, Lymphadenopathy... ORPHA:3392
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis
Thrombocytopenia, Leukocytosis, Hashimoto thyroiditis, Hyponatremia ORPHA:83601
Idiopathic Hypereosinophilic Syndrome
Leukocytosis, Thrombocytosis, Cholangitis, Portal fibrosis, Chronic hepatitis, Myelofibrosis, Ane... ORPHA:3260
Immunodeficiency, Common Variable, 13
Pancytopenia, B lymphocytopenia, Acute lymphoblastic leukemia OMIM:616873
Beta-Thalassemia, Dominant Inclusion Body Type
Hepatomegaly, Splenomegaly, Persistence of hemoglobin F, Microcytic anemia, Erythrocyte inclusion... OMIM:603902
Thrombocytopenia-Absent Radius Syndrome
Leukocytosis, Pancreatic cysts, Anemia, Fused cervical vertebrae, Hepatosplenomegaly, Thrombocyto... OMIM:274000
Cholestasis-Lymphedema Syndrome
Hepatomegaly, Hyperlipidemia, Splenomegaly, Cirrhosis, Neonatal cholestatic liver disease, Conjug... OMIM:214900
Immunodeficiency 37
Decreased proportion of central memory CD4-positive, alpha-beta T cells OMIM:616098
Autoinflammation, Panniculitis, And Dermatosis Syndrome
Leukocytosis, Increased proportion of CD4-positive T cells, Lymphadenopathy, Neutrophilia, Elevat... OMIM:617099
Sarcoidosis
Portal hypertension, Hepatomegaly, Hypercalcemia, Bone cyst, Keratoconjunctivitis sicca, Leukopen... ORPHA:797
Abetalipoproteinemia
Keratoconjunctivitis sicca, Hepatomegaly, Abnormality of retinal pigmentation, Decreased HDL chol... ORPHA:14
Graft Versus Host Disease
Lymphadenopathy, Hyperbilirubinemia, Acute hepatitis, Hepatosplenomegaly, Chronic hepatitis, Hemo... ORPHA:39812
Drug-Induced Autoimmune Hemolytic Anemia
Autoimmune hemolytic anemia, Increased total bilirubin, Splenomegaly ORPHA:90037
Herpes Simplex Virus Encephalitis
Leukocytosis, Elevated circulating C-reactive protein concentration, Neutrophilia, Hyponatremia ORPHA:1930
Retinitis Pigmentosa And Erythrocytic Microcytosis
Anemia, Decreased serum iron, Anisocytosis, Poikilocytosis, Decreased mean corpuscular volume, El... OMIM:616959
Hemoglobin C-Beta-Thalassemia Syndrome
Microcytic anemia, Anemia, Abnormal hemoglobin, Splenomegaly ORPHA:231242
Eosinophil Peroxidase Deficiency
Abnormal eosinophil morphology OMIM:261500
Chediak-Higashi Syndrome
Hepatomegaly, Neutropenia, Leukopenia, Ocular albinism, Lymphadenopathy, Silver-gray hair, Abnorm... OMIM:214500
Congenital Disorder Of Glycosylation, Type Iif
Decreased platelet glycoprotein Ib, Thrombocytopenia, Macrothrombocytopenia, Neutropenia OMIM:603585
Immunodeficiency 92
Leukocytosis, B lymphocytopenia, Decreased proportion of class-switched memory B cells, Thrombocy... OMIM:619652
Purine Nucleoside Phosphorylase Deficiency
Hypouricemia, Neutropenia in presence of anti-neutropil antibodies, Lymph node hypoplasia, Increa... OMIM:613179
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Hypergalactosemia, Hyperammonemia, Hepatosplenomegaly, Hyperthreoninemia, Hypermethioninemia, Jau... ORPHA:247598
Immunodeficiency, Common Variable, 1
B lymphocytopenia, Hepatomegaly, Decreased proportion of class-switched memory B cells, Neutropen... OMIM:607594
Isolated Agammaglobulinemia
Autoimmunity, Recurrent cutaneous abscess formation, Abnormality of the lymphatic system, Abnorma... ORPHA:229717
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Hepatomegaly, Hepatocellular necrosis, Anisocytosis, Poikilocytosis, Chronic hemolytic anemia, Re... OMIM:618278
Bernard-Soulier Syndrome
Decreased platelet glycoprotein Ib-IX-V, Macrothrombocytopenia, Giant platelets, Impaired ristoce... ORPHA:274
Livedoid Vasculopathy
Leukocytosis, Hyperhomocystinemia, Autoimmunity, Polycythemia, Abnormal circulating lipid concent... ORPHA:542643
Macrocephaly/Autism Syndrome
Hepatomegaly, Lymphopenia, Splenomegaly OMIM:605309
Caspase 8 Deficiency
Decreased CD4:CD8 ratio, Lymphadenopathy, Splenomegaly OMIM:607271
Myopathy With Extrapyramidal Signs
Leukocytosis, Hepatomegaly, Elevated circulating creatine kinase concentration, Hypervalinemia, E... OMIM:615673
Eosinophilic Granulomatosis With Polyangiitis
Hypopigmented skin patches, Autoimmunity, Eosinophilia ORPHA:183
Yellow Fever
Leukocytosis, Elevated circulating creatine kinase concentration, Elevated circulating creatinine... ORPHA:99829
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome
Kyphoscoliosis, Scoliosis, Lymphopenia, Synophrys ORPHA:391307
Severe Combined Immunodeficiency Due To Dclre1C Deficiency
Autoimmunity, Vitiligo, Decreased proportion of CD3-positive T cells, Juvenile rheumatoid arthrit... ORPHA:275
Agammaglobulinemia 1, Autosomal Recessive
B lymphocytopenia, Neutropenia, Conjunctivitis OMIM:601495
Aggressive Systemic Mastocytosis
Leukocytosis, Neutropenia, Thrombocytopenia, Leukemia, Lymphadenopathy, Osteoporosis, Anemia, Abn... ORPHA:98850
Immunodeficiency 36
Chronic lymphatic leukemia, Autoimmunity, Lymphopenia, Splenomegaly OMIM:616005
Delta-Beta-Thalassemia
Microcytic anemia, Anemia, Abnormal hemoglobin ORPHA:231237
Primary Familial Polycythemia
Polycythemia, Abnormal hemoglobin ORPHA:90042
Onychotrichodysplasia And Neutropenia
Chronic neutropenia, Neutropenia, Curly eyelashes, Sparse pubic hair, Trichorrhexis nodosa, Chron... OMIM:258360
Angiostrongyliasis
Hypereosinophilia ORPHA:74
Schimke Immuno-Osseous Dysplasia
Decreased proportion of naive CD8 T cells, Autoimmunity, Neutropenia, Hyperlipidemia, Anemia, Bon... ORPHA:1830
Paroxysmal Nocturnal Hemoglobinuria
Reduced haptoglobin level, Unconjugated hyperbilirubinemia, Leukopenia, Erythroid hyperplasia, An... ORPHA:447
Allergic Bronchopulmonary Aspergillosis
Abnormal eosinophil morphology, Abnormal fingernail morphology ORPHA:1164
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis
Leukocytosis, Macrocytic anemia, Abnormally low T cell receptor excision circle level, Reduction ... OMIM:608203
Nijmegen Breakage Syndrome
B lymphocytopenia, Progressive vitiligo, Autoimmune hemolytic anemia, Thrombocytopenia, T lymphoc... OMIM:251260
Mevalonic Aciduria
Fluctuating splenomegaly, Leukocytosis, Nuclear cataract, Normocytic hypoplastic anemia, Lymphade... OMIM:610377
Cryptogenic Organizing Pneumonia
Leukocytosis, Elevated circulating C-reactive protein concentration, Neutrophilia ORPHA:1302
Dyskeratosis Congenita, Autosomal Dominant 1
Sparse hair, Ridged nail, Reticular hyperpigmentation, Osteoporosis, Anemia, Bone marrow hypocell... OMIM:127550
Alpha-Thalassemia
Anemia, Abnormal hemoglobin, Cholelithiasis, Splenomegaly, Hypersplenism, Microcytic anemia, Hemo... ORPHA:846
Primary Myelofibrosis
Leukocytosis, Thrombocytosis, Hepatomegaly, Lymphadenopathy, Anemia, Splenomegaly, Hepatosplenome... ORPHA:824
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency
Decreased proportion of memory B cells, B lymphocytopenia ORPHA:70593
Congenital Enterovirus Infection
Leukocytosis, Neutropenia, Leukopenia, Hepatitis, Anemia, Hyperammonemia, Abnormal macrophage mor... ORPHA:292
Storage Pool Platelet Disease
Decreased mean platelet volume, Acute leukemia OMIM:185050
Elliptocytosis 2
Reticulocytosis, Neonatal hyperbilirubinemia, Hemolytic anemia, Elliptocytosis OMIM:130600
Chronic Bilirubin Encephalopathy
Abnormal conjunctiva morphology, Hypernatremia, Neonatal hyperbilirubinemia, Conjunctival icterus... ORPHA:529808
Acute Bilirubin Encephalopathy
Abnormal conjunctiva morphology, Hypernatremia, Neonatal hyperbilirubinemia, Conjunctival icterus... ORPHA:529799
Adult-Onset Still Disease
Leukocytosis, Hepatomegaly, Abnormal circulating lipid concentration, Hepatitis, Bone marrow hypo... ORPHA:829
Psoriasis 14, Pustular
Leukocytosis, Cholangitis, Nail dystrophy, Neutrophilia, Elevated circulating C-reactive protein ... OMIM:614204
Hemoglobin E Disease
Hypochromia, Hypochromic microcytic anemia, Increased red blood cell count, Abnormal hemoglobin, ... ORPHA:2133
Chronic Myeloid Leukemia
Thrombocytosis, Abnormal basophil morphology, Leukocytosis, Abnormal granulocyte morphology, Sple... ORPHA:521
Deafness-Lymphedema-Leukemia Syndrome
Leukocytosis, Hepatomegaly, Acute leukemia, Lymphadenopathy, Bone marrow hypocellularity, Splenom... ORPHA:3226
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome
Highly arched eyebrow, Increased mean platelet volume, Abnormality of the lymphatic system, Spars... ORPHA:487796
Obesity Due To Congenital Leptin Deficiency
Decreased proportion of CD4-positive helper T cells, Hypertriglyceridemia ORPHA:66628
Nephrotic Syndrome, Type 14
Hypoalbuminemia, Lymphopenia, Hypertriglyceridemia OMIM:617575
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Fine hair, White hair, Anemia, Reduced bone mineral density, Abnormality of the pancreas, Lymphop... ORPHA:935
Erythrocytosis, Familial, 1
Increased hematocrit, Increased red blood cell mass, Increased hemoglobin, Splenomegaly OMIM:133100
Wiskott-Aldrich Syndrome
Autoimmunity, Neutropenia, Abnormal platelet function, Acute leukemia, Hypoplasia of the thymus, ... ORPHA:906
Subacute Inflammatory Demyelinating Polyneuropathy
Leukocytosis ORPHA:206594
Obesity Due To Leptin Receptor Gene Deficiency
Decreased proportion of CD4-positive helper T cells, Hypertriglyceridemia ORPHA:179494
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly