Gene Summary

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

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
increased KLRG1-positive NK cell number Cog6tm1a(EUCOMM)Wtsi HOM   Early adult 0.00
increased eosinophil cell number Cog6tm1a(EUCOMM)Wtsi HOM   Early adult 0.00
decreased mean corpuscular hemoglobin concentration Cog6tm1a(EUCOMM)Wtsi HOM Early adult 1.01×10-18
abnormal coat/hair pigmentation Cog6tm1a(EUCOMM)Wtsi HOM Early adult 3.53×10-05
increased Ly6C high monocyte number Cog6tm1a(EUCOMM)Wtsi HOM Early adult 0.00
decreased hemoglobin content Cog6tm1a(EUCOMM)Wtsi HOM Early adult 5.85×10-06
decreased Ly6C-positive immature NK cell number Cog6tm1a(EUCOMM)Wtsi HOM   Early adult 0.00
increased effector memory T-helper cell number Cog6tm1a(EUCOMM)Wtsi HOM   Early adult 0.00
decreased mean corpuscular hemoglobin Cog6tm1a(EUCOMM)Wtsi HOM Early adult 1.94×10-15
increased mean platelet volume Cog6tm1a(EUCOMM)Wtsi HOM Early adult 6.23×10-06
increased gamma-delta 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 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
decreased memory-marker gamma-delta T cell number Cog6tm1a(EUCOMM)Wtsi HOM   Early adult 0.00
vertebral transformation Cog6tm1a(EUCOMM)Wtsi HOM Early adult 3.38×10-10
decreased CD4-positive NK T 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
decreased bone mineral content Cog6tm1a(EUCOMM)Wtsi HOM   Early adult 9.95×10-06
increased KLRG1+ CD4 alpha-beta T cell number Cog6tm1a(EUCOMM)Wtsi HOM Early adult 0.00
increased granulocyte 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
increased circulating aspartate transaminase level Cog6tm1a(EUCOMM)Wtsi HOM Early adult 1.42×10-12
increased circulating amylase level Cog6tm1a(EUCOMM)Wtsi HOM   Early adult 2.72×10-05
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 leukocyte cell number Cog6tm1a(EUCOMM)Wtsi HOM Early adult 3.19×10-06
decreased hematocrit Cog6tm1a(EUCOMM)Wtsi HOM Early adult 8.85×10-05
decreased effector memory CD8-positive, 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 circulating total protein level Cog6tm1a(EUCOMM)Wtsi HOM   Early adult 1.12×10-05
increased circulating bilirubin level Cog6tm1a(EUCOMM)Wtsi HOM Early adult 1.33×10-06
increased KLRG1-positive T-helper 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 anti-nuclear antigen antibody level Cog6tm1a(EUCOMM)Wtsi HOM Early adult 0.00
decreased memory-marker NK cell number Cog6tm1a(EUCOMM)Wtsi HOM   Early adult 0.00
decreased T cell number Cog6tm1a(EUCOMM)Wtsi HOM   Early adult 0.00
increased KLRG1-positive CD4-positive, CD25-positive, alpha-beta regulatory T cell number Cog6tm1a(EUCOMM)Wtsi HOM   Early adult 0.00
decreased marginal zone 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 NK cell number 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
decreased memory-marker CD4-positive NK T cell number Cog6tm1a(EUCOMM)Wtsi HOM   Early adult 0.00
decreased 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
increased B-2 B cell number Cog6tm1a(EUCOMM)Wtsi HOM   Early adult 0.00
increased CD4-negative NK T cell number Cog6tm1a(EUCOMM)Wtsi HOM   Early adult 0.00
increased CD4-positive, alpha-beta memory T 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 monocyte 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
abnormal cornea morphology Cog6tm1a(EUCOMM)Wtsi HOM Early adult 3.41×10-05
decreased memory-marker CD4-negative NK T cell number Cog6tm1a(EUCOMM)Wtsi HOM   Early adult 0.00
increased circulating alkaline phosphatase level 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
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

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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

Spleen Immunophenotyping

Images associated with FACS analysis

204 Images

X-ray

XRay Images Whole Body Dorso Ventral

13 Images

Anti-nuclear antibody assay

Images

14 Images

X-ray

XRay Images Skull Lateral Orientation

14 Images

Eye Morphology

Images Slit Lamp

7 Images

DSS Histology

Images

16 Images

X-ray

XRay Images Forepaw

15 Images

X-ray

XRay Images Whole Body Lateral Orientation

13 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

13 Images

Eye Morphology

Images Ophthalmoscopy

2 Images

Ear epidermis immunophenotyping

Images

12 Images

Legacy Phenotype Associated Images

View all 68 images

View all 9 images

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, 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 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, 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