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Gene: Gmds MGI:1891112

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Gene Summary

Name:
GDP-mannose 4, 6-dehydratase
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 NK T cell number Gmdstm1a(KOMP)Wtsi HOM Early adult 0.00
decreased bone mineral content Gmdstm1a(KOMP)Wtsi HOM   Early adult 1.34×10-06
decreased CD8-positive, alpha-beta T cell number Gmdstm1a(KOMP)Wtsi HOM   Early adult 0.00
increased memory CD4-positive, CD25-positive, alpha-beta regulatory T cell number Gmdstm1a(KOMP)Wtsi HOM   Early adult 0.00
increased monocyte cell number Gmdstm1a(KOMP)Wtsi HOM   Early adult 0.00
decreased transitional stage T2 B cell number Gmdstm1a(KOMP)Wtsi HOM   Early adult 0.00
abnormal bone structure Gmdstm1a(KOMP)Wtsi HOM Early adult 1.84×10-05
increased neutrophil cell number Gmdstm1a(KOMP)Wtsi HOM Early adult 0.00
increased granulocyte number Gmdstm1a(KOMP)Wtsi HOM   Early adult 0.00
increased immature NK cell number Gmdstm1a(KOMP)Wtsi HOM   Early adult 0.00
decreased erythrocyte cell number Gmdstm1a(KOMP)Wtsi HOM Early adult 4.71×10-06
increased gamma-delta T cell number Gmdstm1a(KOMP)Wtsi HOM   Early adult 0.00
decreased lean body mass Gmdstm1a(KOMP)Wtsi HOM   Early adult 3.23×10-05
decreased Ly6C-positive mature NK cell number Gmdstm1a(KOMP)Wtsi HOM   Early adult 0.00
decreased memory-marker CD4-positive NK T cell number Gmdstm1a(KOMP)Wtsi HOM   Early adult 0.00
decreased CD4-positive NK T cell number Gmdstm1a(KOMP)Wtsi HOM   Early adult 0.00
decreased regulatory T cell number Gmdstm1a(KOMP)Wtsi HOM Early adult 0.00
abnormal cranium morphology Gmdstm1a(KOMP)Wtsi HOM Early adult 4.58×10-07
increased grip strength Gmdstm1a(KOMP)Wtsi HOM Early adult 1.00×10-05
increased CD4-negative NK T cell number Gmdstm1a(KOMP)Wtsi HOM   Early adult 0.00
abnormal snout morphology Gmdstm1a(KOMP)Wtsi HOM   Early adult 6.10×10-06
decreased plasmacytoid dendritic cell number Gmdstm1a(KOMP)Wtsi HOM   Early adult 0.00
increased CD8-positive, alpha-beta T cell number Gmdstm1a(KOMP)Wtsi HOM   Early adult 0.00
decreased KLRG1-positive NK cell number Gmdstm1a(KOMP)Wtsi HOM   Early adult 0.00
decreased KLRG1+ CD8 alpha-beta T cell number Gmdstm1a(KOMP)Wtsi HOM   Early adult 0.00
decreased CD4-positive, CD25-positive, alpha-beta regulatory T cell number Gmdstm1a(KOMP)Wtsi HOM   Early adult 0.00
increased circulating iron level Gmdstm1a(KOMP)Wtsi HOM Early adult 2.01×10-09
decreased alpha-beta T cell number Gmdstm1a(KOMP)Wtsi HOM   Early adult 0.00
decreased hemoglobin content Gmdstm1a(KOMP)Wtsi HOM Early adult 7.22×10-05
decreased CD8-positive, naive alpha-beta T cell number Gmdstm1a(KOMP)Wtsi HOM   Early adult 0.00
decreased memory CD4-positive, CD25-positive, alpha-beta regulatory T cell number Gmdstm1a(KOMP)Wtsi HOM   Early adult 0.00
increased Ly6C-positive NK T cell number Gmdstm1a(KOMP)Wtsi HOM   Early adult 0.00
decreased NK cell number Gmdstm1a(KOMP)Wtsi HOM   Early adult 0.00
decreased macrophage cell number Gmdstm1a(KOMP)Wtsi HOM   Early adult 0.00
decreased CD4-positive, alpha-beta T cell number Gmdstm1a(KOMP)Wtsi HOM   Early adult 0.00
decreased body length Gmdstm1a(KOMP)Wtsi HOM Early adult 3.15×10-16
decreased dendritic cell number Gmdstm1a(KOMP)Wtsi HOM   Early adult 0.00
increased CD4-positive, alpha-beta T cell number Gmdstm1a(KOMP)Wtsi HOM   Early adult 0.00
decreased mature NK cell number Gmdstm1a(KOMP)Wtsi HOM   Early adult 0.00
increased leukocyte cell number Gmdstm1a(KOMP)Wtsi HOM Early adult 8.38×10-29
decreased memory-marker CD4-negative NK T cell number Gmdstm1a(KOMP)Wtsi HOM   Early adult 0.00
increased memory-marker NK cell number Gmdstm1a(KOMP)Wtsi HOM   Early adult 0.00
increased total body fat amount Gmdstm1a(KOMP)Wtsi HOM   Early adult 3.87×10-05
decreased effector memory CD8-positive, alpha-beta T cell number Gmdstm1a(KOMP)Wtsi HOM   Early adult 0.00
decreased circulating magnesium level Gmdstm1a(KOMP)Wtsi HOM   Early adult 3.73×10-05
decreased T-helper cell number Gmdstm1a(KOMP)Wtsi HOM   Early adult 0.00
decreased hematocrit Gmdstm1a(KOMP)Wtsi HOM Early adult 8.90×10-06

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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 Whole Body Lateral Orientation

14 Images

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Spleen Immunophenotyping

Images associated with FACS analysis

193 Images

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DSS Histology

Images

8 Images

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Mesenteric Lymph Node Immunophenotyping

Images associated with FACS analysis

36 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

14 Images

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Eye Morphology

Images Ophthalmoscopy

1 Images

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X-ray

XRay Images Whole Body Dorso Ventral

14 Images

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X-ray

XRay Images Forepaw

14 Images

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X-ray

XRay Images Skull Lateral Orientation

14 Images

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Anti-nuclear antibody assay

Images

6 Images

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Ear epidermis immunophenotyping

Images

9 Images

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Legacy Phenotype Associated Images
Gmdstm1a(KOMP)Wtsi
HOM, Male, WTSI
Gmdstm1a(KOMP)Wtsi
HOM, Male, WTSI
Gmdstm1a(KOMP)Wtsi
HOM, Male, WTSI
Gmdstm1a(KOMP)Wtsi
HOM, Male, WTSI
Gmdstm1a(KOMP)Wtsi
HOM, Male, WTSI

View all 125 images

Gmdstm1a(KOMP)Wtsi
head, abnormal snout morphology, asymmetric snout, HOM, Female, WTSI
Gmdstm1a(KOMP)Wtsi
abnormal snout morphology, upturned snout, head, HOM, Male, WTSI
Gmdstm1a(KOMP)Wtsi
head, abnormal snout morphology, upturned snout, HOM, Female, WTSI
Gmdstm1a(KOMP)Wtsi
head, abnormal snout morphology, asymmetric snout, HOM, Female, WTSI
Gmdstm1a(KOMP)Wtsi
head, abnormal snout morphology, asymmetric snout, HOM, Female, WTSI

View all 9 images

Gmdstm1a(KOMP)Wtsi
persistence of hyaloid vascular system, HOM, Female, WTSI

Human diseases caused by Gmds 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.

No human diseases associated to this gene by orthology or annotation.

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

Disease Similarity of
phenotypes		 Matching phenotypes Source
Immunodeficiency 79
Decreased proportion of CD4-positive T cells OMIM:619238
Immunodeficiency 15A
Decreased proportion of CD8-positive T cells, Decreased proportion of memory B cells, Decreased p... OMIM:618204
Combined Immunodeficiency, X-Linked
Abnormal T cell count, Decreased proportion of CD8-positive T cells, Decreased proportion of CD4-... OMIM:312863
Immunodeficiency 18
Reduced natural killer cell count, Lymphopenia, Abnormal B cell count, Decreased proportion of CD... OMIM:615615
Severe Combined Immunodeficiency Due To Foxn1 Deficiency
T lymphocytopenia ORPHA:169095
Immunodeficiency 15B
Reduced natural killer cell count, Failure to thrive, Monocytosis OMIM:615592
Immunodeficiency 112
Reduced natural killer cell count, Increased T cell count, Decreased proportion of class-switched... OMIM:620449
Agammaglobulinemia 7, Autosomal Recessive
Reduced natural killer cell count, Neutropenia, Abnormal T cell morphology OMIM:615214
Immunodeficiency 105
Reduced natural killer cell count, Lymphopenia, Hepatosplenomegaly, Pancytopenia, Impaired lympho... OMIM:619924
Dysplasia Of Head Of Femur, Meyer Type
Multicentric femoral head ossification, Leukocytosis, Delayed femoral head ossification ORPHA:168621
Lymphoproliferative Syndrome 3
Reduced natural killer cell count, Hepatosplenomegaly OMIM:618261
Immunodeficiency 20
Reduced natural killer cell count OMIM:615707
Ras-Associated Autoimmune Leukoproliferative Disorder
Pancytopenia, Splenomegaly, Lymphocytosis, Neutropenia, Monocytosis, Leukemia, Autoimmune thrombo... OMIM:614470
Immunodeficiency 102
Reduced natural killer cell count, Increased proportion of CD8-positive, alpha-beta TEMRA T cells... OMIM:301082
Refractory Celiac Disease
Normocytic anemia, Hypoalbuminemia, Hypomagnesemia, Microcytic anemia, Abnormal spleen physiology... ORPHA:398063
Immunodeficiency 21
Reduced natural killer cell count, Aplastic anemia, Lymphopenia, Anemia, Neutropenia, B lymphocyt... OMIM:614172
Wiskott-Aldrich Syndrome 2
Decreased proportion of CD8-positive T cells, Thrombocytopenia OMIM:614493
Immunodeficiency 97 With Autoinflammation
Decreased proportion of CD4+CD25+ regulatory T cells, Reduced natural killer cell count, Granulom... OMIM:619802
Immunodeficiency 48
Failure to thrive, Abnormal B cell count, Splenomegaly, Impaired lymphocyte transformation with p... OMIM:269840
Neutropenia, Severe Congenital, 10, Autosomal Recessive
Anorectal abscess, Monocytosis, Thrombocytopenia, Neutropenia, Anemia OMIM:620534
Autoinflammation With Infantile Enterocolitis
Hypoalbuminemia, Reduced natural killer cell count, Failure to thrive, Increased circulating ferr... OMIM:616050
Immunodeficiency 116
Absence of CD8-positive T cells OMIM:608957
Immunodeficiency 103, Susceptibility To Fungal Infections
Decreased circulating iron concentration, Hypereosinophilia, Abnormal B cell count, Abnormal prop... OMIM:212050
Immunodeficiency 52
Increased proportion of gamma-delta T cells, Failure to thrive, Lymphopenia, Abnormal B cell coun... OMIM:617514
Immunodeficiency 57 With Autoinflammation
Reduced natural killer cell count, Failure to thrive, Perianal abscess, B lymphocytopenia, T lymp... OMIM:618108
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To
Bone marrow hypocellularity, Leukopenia, Acute myeloid leukemia, Monocytosis, Refractory anemia OMIM:616871
Immunodeficiency, partial combined, with absence of hla determinantsand beta-2-microglobulin from lymphocytes
T lymphocytopenia OMIM:242870
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Reduced natural killer cell count, Hemophagocytosis, Increased circulating ferritin concentration... ORPHA:158057
Immunodeficiency 53
Impaired lymphocyte transformation with phytohemagglutinin, Failure to thrive, Neutrophilia OMIM:617585
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome
Decreased proportion of CD8-positive T cells, Failure to thrive in infancy, Decreased proportion ... OMIM:617241
Immunodeficiency 85 And Autoimmunity
Decreased proportion of memory B cells, Reduced natural killer cell count, Failure to thrive in i... OMIM:619510
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Acute monocytic leukemia, Congenital agranulocytosis, Thrombocytosis, Eosinophilia, Neutropenia, ... OMIM:202700
Immunodeficiency 24
Lymphopenia, Decreased proportion of memory B cells, Reduced proportion of mucosal-associated inv... OMIM:615897
Neutropenia, Severe Congenital, 2, Autosomal Dominant
B lymphocytopenia, Neutropenia, Monocytosis OMIM:613107
Immunodeficiency 14B, Autosomal Recessive
Neutrophilia, Thrombocytosis, Leukocytosis, B lymphocytopenia, Monocytosis OMIM:619281
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Reduced natural killer cell count, Increased circulating ferritin concentration, Hypertriglycerid... OMIM:619313
Adult Idiopathic Neutropenia
Monocytopenia, Lymphopenia, Neutropenia, Monocytosis ORPHA:2688
Primary Intestinal Lymphangiectasia
Hypoalbuminemia, Hypomagnesemia, Lymphopenia, Hypocalcemia, Reduced proportion of CD4+ effector m... ORPHA:90362
Immunodeficiency 54
Reduced natural killer cell count, Splenomegaly, Failure to thrive OMIM:609981
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Failure to thrive, Hypomagnesemia, Pancytopenia, Leukopenia, Hyperuricemia, Hyponatremia, Increas... OMIM:613845
Autosomal Dominant Severe Congenital Neutropenia
Cellulitis, Osteopenia, Aplastic anemia, Lymphopenia, Eosinophilia, Acute myeloid leukemia, Neutr... ORPHA:486
Immunodeficiency 19
Abnormal B cell morphology, T lymphocytopenia, Abnormal natural killer cell morphology, Failure t... OMIM:615617
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Failure to thrive, Decreased proportion of CD8-positive T cells, Lymphopenia, Hepatosplenomegaly,... ORPHA:169154
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1
Reduced natural killer cell count, T lymphocytopenia, Failure to thrive, Short nose OMIM:242860
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)
T lymphocytopenia, Hypocalcemia DECIPHER:16
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis
Decreased proportion of CD8-positive T cells, Decreased proportion of CD4-positive helper T cells OMIM:611926
Immunodeficiency 104
T lymphocytopenia, Splenomegaly, Failure to thrive secondary to recurrent infections OMIM:608971
Immunodeficiency 8 With Lymphoproliferation
Lymphopenia OMIM:615401
Immunodeficiency 43
Hypoalbuminemia, Reduced natural killer cell count, Decreased circulating beta-2-microglobulin le... OMIM:241600
T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy
T lymphocytopenia, Decreased helper T cell proportion OMIM:601705
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant
Abnormally low T cell receptor excision circle level, T lymphocytopenia OMIM:618806
Aicardi-Goutieres Syndrome 2
Lymphocytosis OMIM:610181
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections
Lymphopenia, Reduced natural killer cell count, Cutaneous abscess, Neutropenia OMIM:619752
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Abnormally low T cell receptor excision circle level, Reduced natural killer cell count, Failure ... ORPHA:276
Immunodeficiency 11A
Monocytopenia, Decreased proportion of CD4+CD25+ regulatory T cells OMIM:615206
Cernunnos-Xlf Deficiency
Lymphopenia, Thrombocytopenia, B lymphocytopenia, Anemia, T lymphocytopenia ORPHA:169079
Immunodeficiency 50
Lymphopenia, Neutropenia OMIM:300988
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive
Anemia, Leukocytosis, Elevated circulating C-reactive protein concentration OMIM:619398
Immunodeficiency 91 And Hyperinflammation
Neutrophilia, Hemophagocytosis, Failure to thrive, Hepatosplenomegaly, Thrombocytopenia, Monocyto... OMIM:619644
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Decreased helper T cell proportion, Pancytopenia, Splenomegaly, Hypersplenism OMIM:183350
Immunodeficiency, Common Variable, 5
Abnormal T cell count, Abnormal B cell count OMIM:613495
Neutropenia, Severe Congenital, X-Linked
Monocytopenia, Decreased CD4:CD8 ratio, Neutropenia OMIM:300299
Immunodeficiency 76
Lymphopenia, T lymphocytopenia, Splenomegaly, B lymphocytopenia OMIM:619164
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant
Cellulitis, Splenomegaly, Decreased proportion of class-switched memory B cells, Increased propor... OMIM:615513
Combined Cellular And Humoral Immune Defects With Granulomas
T lymphocytopenia, B lymphocytopenia OMIM:233650
Papular Xanthoma
Histiocytosis ORPHA:158008
Neutrophilia, Hereditary
Splenomegaly, Neutrophilia OMIM:162830
Histiocytosis, Progressive Mucinous
Mucinous histiocytosis OMIM:142630
Histiocytosis, Familial Lipochrome
Histiocytosis, Increased alpha-globulin OMIM:235900
Hereditary Progressive Mucinous Histiocytosis
Mucinous histiocytosis ORPHA:158025
Diamond-Blackfan Anemia 18
Erythroid hypoplasia, Neutropenia, Steroid-responsive anemia OMIM:618310
Combined Immunodeficiency Due To Zap70 Deficiency
Failure to thrive, Decreased proportion of CD8-positive T cells, Hepatosplenomegaly, Autoimmune h... ORPHA:911
Pgm3-Cdg
Bone marrow hypocellularity, Reduced natural killer cell count, Abnormal CD4:CD8 ratio, Cutaneous... ORPHA:443811
Progressive Multifocal Leukoencephalopathy
Decreased proportion of CD8-positive T cells, Abnormal proportion of CD4-positive T cells ORPHA:217260
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Lymphopenia, Hypoplasia of the thymus OMIM:200900
Immunodeficiency 17
Abnormal B cell morphology, Failure to thrive, Decreased proportion of CD8-positive T cells, Auto... OMIM:615607
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Hypoalbuminemia, Hypomagnesemia, Failure to thrive in infancy, Autoimmune hemolytic anemia, Splen... ORPHA:37042
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections
Reduced natural killer cell count, Cutaneous abscess, Failure to thrive, Decreased proportion of ... OMIM:243700
Congenital Amegakaryocytic Thrombocytopenia
Anemia, Abnormal hemoglobin, Thrombocytopenia, Decreased skull ossification ORPHA:3319
Neutropenia-Monocytopenia-Deafness Syndrome
Abnormality of neutrophils, Abnormal macrophage morphology ORPHA:2690
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
Absent natural killer cells, Failure to thrive, Lymphopenia, Impaired lymphocyte transformation w... OMIM:600802
Hermansky-Pudlak Syndrome 2
Wide nasal bridge, Reduced natural killer cell count, Enlarged platelet dense granules, Hepatospl... OMIM:608233
Kenny-Caffey Syndrome, Type 1
Hypomagnesemia, Hypocalcemia, Decreased skull ossification, Calvarial osteosclerosis, Anemia OMIM:244460
Benign Cephalic Histiocytosis
Histiocytosis ORPHA:157997
Dyskeratosis Congenita, Autosomal Recessive 8
Bone marrow hypocellularity, Reduced natural killer cell count, Pancytopenia, B lymphocytopenia OMIM:620133
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Abnormally low T cell receptor excision circle level, Cellulitis, Lymphopenia, Hepatosplenomegaly... OMIM:618986
Immunodeficiency 115 With Autoinflammation
Hypoalbuminemia, Elevated haptoglobin level, Abnormal circulating creatine kinase concentration, ... OMIM:620632
Autoimmune Disease, Multisystem, Infantile-Onset, 3
Abnormal T cell count, Hepatic hemophagocytosis, Abnormal B cell count, Autoimmune hemolytic anem... OMIM:620430
Immunodeficiency 68
Abnormal natural killer cell count, T lymphocytopenia, Abscess, B lymphocytopenia OMIM:612260
Colchicine Poisoning
Hypomagnesemia, Leukocytosis, Hypocalcemia, Hypokalemia, Hyponatremia, Hypophosphatemia, Abnormal... ORPHA:31824
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2
Decreased proportion of memory B cells, Reduced natural killer cell count, Perianal abscess, Iron... OMIM:301074
Myelolymphatic Insufficiency
Leukopenia, Hyposegmentation of neutrophil nuclei OMIM:310350
Neutropenia, Severe Congenital, 6, Autosomal Recessive
Failure to thrive, Neutropenia OMIM:616022
Immunodeficiency 13
Lymphopenia, Decreased CD4:CD8 ratio, Decreased proportion of CD4-positive helper T cells, B lymp... OMIM:615518
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Wide nasal bridge, Failure to thrive, Lymphopenia, Hepatosplenomegaly, Leukopenia, Splenomegaly, ... OMIM:612541
Cyclic Neutropenia
Cyclic neutropenia OMIM:162800
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Lymphopenia, Splenomegaly, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Hemolytic an... ORPHA:444463
Hemoglobin E-Beta-Thalassemia Syndrome
Anemia, Abnormal hemoglobin, Increased circulating ferritin concentration ORPHA:231249
Immunodeficiency 95
Lymphopenia OMIM:619773
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Lymphopenia, T lymphocytopenia, Failure to thrive, B lymphocytopenia ORPHA:277
Hemochromatosis, Type 3
Increased circulating iron concentration, Increased circulating ferritin concentration, Lymphopen... OMIM:604250
Eosinophilia, Familial
Anemia, Eosinophilia, Leukocytosis, Thrombocytopenia OMIM:131400
Neutrophil Immunodeficiency Syndrome
Abnormality of neutrophil physiology, Leukocytosis ORPHA:183707
Persistent Polyclonal B-Cell Lymphocytosis
Lymphocytosis, Splenomegaly OMIM:606445
Neutropenia, Severe Congenital, 7, Autosomal Recessive
Neutropenia OMIM:617014
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive
T lymphocytopenia, Failure to thrive, Failure to thrive secondary to recurrent infections, B lymp... OMIM:601457
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Decreased CD4:CD8 ratio, Decreased proportion of CD4-positive helper T cells, Splenomegaly, Decre... OMIM:300853
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies
Wide nasal bridge, Osteopenia, Reduced natural killer cell count, Umbilical hernia, Decreased pro... ORPHA:221139
Myeloproliferative Syndrome, Transient
Leukocytosis, Transient myeloproliferative syndrome OMIM:159595
Immunodeficiency 55
Lymphopenia, Absent natural killer cells, Neutropenia OMIM:617827
Whim Syndrome 2
Chronic neutropenia OMIM:619407
Hemoglobin D Disease
Reduced beta/alpha synthesis ratio, Reduced hemoglobin A, Imbalanced hemoglobin synthesis, Spleno... ORPHA:90039
Myalgia-Eosinophilia Syndrome Associated With Tryptophan
Lymphopenia, Eosinophilia ORPHA:2582
Bone Marrow Failure Syndrome 6
Osteopenia, Bone marrow hypocellularity, Increased mean corpuscular volume, Persistence of hemogl... OMIM:618849
Immunodeficiency 69
Hemophagocytosis, Failure to thrive, Increased circulating ferritin concentration, Hepatosplenome... OMIM:618963
Acute Peripheral Arterial Occlusion
Leukocytosis ORPHA:90064
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Hypomagnesemia, Hypocalcemia, Hypokalemia, Cachexia, Anemia OMIM:175500
Acute Myelomonocytic Leukemia
Leukocytosis, Eosinophilia, Weight loss, Thrombocytopenia, Anemia ORPHA:517
Immunodeficiency 67
Abnormal T cell count, Transient neutropenia, Abnormal B cell count, Abnormal natural killer cell... OMIM:607676
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency
Absent natural killer cells, Failure to thrive in infancy, Lymphopenia, Hepatosplenomegaly, Impai... ORPHA:35078
Immunodeficiency 32B
Hypoalbuminemia, Failure to thrive, Impaired oxidative burst, Splenomegaly, Eosinophilia, Monocyt... OMIM:226990
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Abnormal T cell count, Failure to thrive, Lymphopenia, Hepatosplenomegaly, Decreased proportion o... ORPHA:331206
Hemophagocytic Syndrome Associated With An Infection
Hemophagocytosis, Increased circulating ferritin concentration, Pancytopenia, Abnormal T cell sub... ORPHA:158048
Neuroleptic Malignant Syndrome
Hyperphosphatemia, Hypomagnesemia, Leukocytosis, Hypocalcemia, Hyperuricemia, Elevated circulatin... ORPHA:94093
Reticular Dysgenesis
Lymphopenia, Leukopenia, Congenital agranulocytosis, Hypoplasia of the thymus OMIM:267500
Neutropenia, Chronic Familial
Neutropenia OMIM:162700
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis
Lymphopenia, Autoimmune hemolytic anemia, Plasmacytosis OMIM:247800
Acquired Partial Lipodystrophy
Lymphocytosis, Lipoatrophy ORPHA:79087
Combined Oxidative Phosphorylation Deficiency 55
Hypomagnesemia, Hypophosphatemic rickets, Elevated circulating creatine kinase concentration, Hyp... OMIM:619743
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia
Abnormally low T cell receptor excision circle level, Failure to thrive in infancy, B lymphocytop... OMIM:618987
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency
Neutropenia ORPHA:90023
Progressive Microcephaly-Seizures-Cortical Blindness-Developmental Delay Syndrome
Decreased proportion of CD4-positive T cells, Decreased body weight ORPHA:477814
Agammaglobulinemia 3, Autosomal Recessive
Absent circulating B cells, Failure to thrive, Neutropenia, Abnormal T cell morphology OMIM:613501
Epidermodysplasia Verruciformis, Susceptibility To, 5
Lymphopenia, T lymphocytopenia OMIM:618309
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Anemia, Splenomegaly, Abnormal bone structure, Persistence of hemoglobin F ORPHA:46532
Severe Combined Immunodeficiency, X-Linked
Hypoplasia of the thymus, T lymphocytopenia, Impaired lymphocyte transformation with phytohemaggl... OMIM:300400
Hemoglobin-Delta locus
Anemia, Imbalanced hemoglobin synthesis OMIM:142000
Macrophage Activation Syndrome
Hypoalbuminemia, Hemophagocytosis, Increased circulating ferritin concentration, Splenomegaly, Hy... ORPHA:158061
Immunodeficiency 26 With Or Without Neurologic Abnormalities
Wide nasal bridge, T lymphocytopenia, Abnormal natural killer cell morphology, B lymphocytopenia OMIM:615966
Immunodeficiency 113 With Autoimmunity And Autoinflammation
Neutrophilia, Leukocytosis, Autoimmune hemolytic anemia, Splenomegaly, Monocytosis, Elevated circ... OMIM:620565
Immunodeficiency 9
Failure to thrive, Lymphopenia, Hypoplasia of the thymus, Amelogenesis imperfecta, Abnormal natur... OMIM:612782
Immunodeficiency 84
Perianal abscess, Splenomegaly, B lymphocytopenia OMIM:619437
Folate Malabsorption, Hereditary
Failure to thrive, Leukopenia, Folate-responsive megaloblastic anemia, Thrombocytopenia, Neutropenia OMIM:229050
Autoimmune Disease, Multisystem, Infantile-Onset, 2
Impaired lymphocyte transformation with phytohemagglutinin, Increased CD4:CD8 ratio OMIM:617006
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias
Decreased proportion of CD4+CD25+ regulatory T cells, Lymphopenia, Autoimmune thrombocytopenia, D... OMIM:619846
Polycythemia Vera
Increased hematocrit, Leukocytosis, Splenomegaly, Increased red blood cell mass, Increased circul... OMIM:263300
Combined Immunodeficiency Due To Partial Rag1 Deficiency
Splenomegaly, Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil antibodies, ... ORPHA:231154
Alpha-Thalassemia-Myelodysplastic Syndrome
Acute leukemia, HbH hemoglobin, Microcytic anemia, Splenomegaly, Neutropenia, Thrombocytopenia ORPHA:231401
Systemic Lupus Erythematosus 17
Lymphopenia, Leukopenia, Autoimmune thrombocytopenia, Thrombocytopenia OMIM:301080
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Anemia, Splenomegaly, Thrombocytopenia, Abnormal hemoglobin ORPHA:231393
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Failure to thrive, Extramedullary hematopoiesis, Leukopenia, Splenomegaly, Thrombocytopenia, Neut... OMIM:615285
Immunodeficiency 44
Lymphopenia OMIM:616636
Hemophagocytic Lymphohistiocytosis, Familial, 3
Hemophagocytosis, Hepatosplenomegaly, Hypertriglyceridemia, Anemia, Granulocytopenia OMIM:608898
Combined Immunodeficiency Due To Dock8 Deficiency
T lymphocytopenia, B lymphocytopenia ORPHA:217390
Thalassemia, Beta+, Silent Allele
Reduced beta/alpha synthesis ratio OMIM:187550
Trimethylaminuria
Anemia, Splenomegaly, Neutropenia OMIM:602079
Transcobalamin Deficiency
Lymphopenia, Pancytopenia, Thrombocytopenia, Neutropenia ORPHA:859
Immunodeficiency 82 With Systemic Inflammation
Hypoalbuminemia, Reduced natural killer cell count, Osteomalacia, Decreased proportion of naive T... OMIM:619381
Lymphoproliferative Syndrome 1
Hemophagocytosis, Increased circulating ferritin concentration, Pancytopenia, Leukopenia, Decreas... OMIM:613011
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Decreased proportion of memory B cells, Failure to thrive in infancy, Hepatosplenomegaly, Pancyto... ORPHA:79124
Lymphangiectasia, Intestinal
Neonatal hypoproteinemia, Lymphopenia OMIM:152800
X-Linked Severe Congenital Neutropenia
Monocytopenia, Neutropenia ORPHA:86788
Juvenile Arthritis
Leukocytosis, Thrombocytosis OMIM:618795
Burkitt Lymphoma
Abnormality of the spleen, Decreased proportion of CD4-positive helper T cells, Hyperuricemia ORPHA:543
Fetal Hemoglobin Quantitative Trait Locus 1
Persistence of hemoglobin F OMIM:141749
Selective Igm Deficiency
Cellulitis, Decreased proportion of transitional B cells, Cutaneous abscess, Fasciitis, Decreased... ORPHA:331235
Acquired Idiopathic Sideroblastic Anemia
Normocytic anemia, Bone marrow hypocellularity, Megaloblastic erythroid hyperplasia, Hypochromic ... ORPHA:75564
Immunodeficiency 49
Abnormally low T cell receptor excision circle level, Umbilical hernia, Lymphopenia, Eosinophilia... OMIM:617237
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome
Lymphopenia, Hypoproteinemia ORPHA:1116
Lymphoproliferative Syndrome, X-Linked, 1
Hypoalbuminemia, Abnormal T cell count, Aplastic anemia, Hemophagocytosis, Pancytopenia, Abnormal... OMIM:308240
Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency
Neutropenia ORPHA:70592
Anemia, Sideroblastic, 2, Pyridoxine-Refractory
Increased circulating ferritin concentration, Sideroblastic anemia, Hypochromia, Anemia, Elevated... OMIM:205950
Agammaglobulinemia 8A, Autosomal Dominant
B lymphocytopenia OMIM:616941
Immunodeficiency, Common Variable, 11
Abnormal T cell count, Decreased proportion of class-switched memory B cells, Failure to thrive OMIM:615767
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Abnormal CD4:CD8 ratio, Splenomegaly, Abscess, Neutropenia, B lymphocytopenia, Intermittent throm... OMIM:150550
Immunodeficiency, Common Variable, 4
Abnormal T cell count OMIM:613494
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation
Increased B cell count, Hepatosplenomegaly, Increased proportion of memory T cells OMIM:618982
Fanconi Anemia, Complementation Group G
Leukemia, Anemia, Neutropenia, Thrombocytopenia OMIM:614082
Niemann-Pick Disease, Type B
Sea-blue histiocytosis, Decreased HDL cholesterol concentration, Increased LDL cholesterol concen... OMIM:607616
Immunodeficiency 70
Decreased proportion of CD4-positive helper T cells, B lymphocytopenia OMIM:618969
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia
Hypersegmentation of neutrophil nuclei, Lymphopenia, Pancytopenia, Macrocytic anemia, Anemia of i... OMIM:617780
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia
Lymphopenia, Leukopenia, Reduced bone mineral density, Splenomegaly OMIM:620210
Juvenile Temporal Arteritis
Eosinophilia, Leukocytosis ORPHA:26137
Hemophagocytic Lymphohistiocytosis, Familial, 4
Hemophagocytosis, Increased circulating ferritin concentration, Splenomegaly, Hypertriglyceridemi... OMIM:603552
Immunodeficiency, Common Variable, 3
Decreased proportion of class-switched memory B cells, Abnormal T cell count, Abnormal B cell count OMIM:613493
Pearson Syndrome
Bone marrow hypocellularity, Hypomagnesemia, Pancytopenia, Reticulocytosis, Splenomegaly, Hypocal... ORPHA:699
Schnitzler Syndrome
Anemia, Increased bone mineral density, Leukocytosis, Splenomegaly ORPHA:37748
Immunodeficiency By Defective Expression Of Mhc Class Ii
Abnormal CD4:CD8 ratio, Failure to thrive, Pancytopenia, Decreased proportion of CD4-positive hel... ORPHA:572
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Decreased proportion of CD8-positive T cells, Lymphopenia, Elbow flexion contracture, Hypereosino... ORPHA:508533
Immunodeficiency 25
Eosinophilia, T lymphocytopenia, Autoimmune hemolytic anemia OMIM:610163
Griscelli Syndrome, Type 2
Hepatosplenomegaly, Hemophagocytosis OMIM:607624
Disabling Pansclerotic Morphea Of Childhood
Elevated circulating C-reactive protein concentration, Lymphopenia, Joint contracture, Neutropenia OMIM:620443
Lymphedema, Primary, With Myelodysplasia
Cellulitis, Pancytopenia, Decreased CD4:CD8 ratio, Acute myeloid leukemia, Leukemia OMIM:614038
T-Cell Immunodeficiency With Thymic Aplasia
Abnormally low T cell receptor excision circle level, Failure to thrive, Lymphopenia, Hepatosplen... OMIM:242700
Immunodeficiency Due To Defect In Mapbp-Interacting Protein
Neutropenia OMIM:610798
Autoinflammatory Syndrome, Familial, Behcet-Like 1
Lymphopenia, Hemolytic anemia, Thrombocytopenia OMIM:616744
Mu-Heavy Chain Disease
Abnormal B cell count, Splenomegaly, Weight loss, Anemia, Osteoporosis, Osteolysis ORPHA:100024
Aregenerative Anemia
Bone marrow hypocellularity, Pancytopenia, Decreased proportion of CD4-positive helper T cells, A... ORPHA:101096
Glutathione Synthetase Deficiency
Hemolytic anemia, Neutropenia OMIM:266130
Autoinflammation, Panniculitis, And Dermatosis Syndrome
Failure to thrive in infancy, Leukocytosis, Increased proportion of CD4-positive T cells, Lipodys... OMIM:617099
Methemoglobinemia, Beta Type
Methemoglobinemia OMIM:617971
Methemoglobinemia, Alpha Type
Methemoglobinemia OMIM:617973
Immunodeficiency 40
T lymphocytopenia, Eosinophilic granuloma, Thrombocytopenia OMIM:616433
Immunodeficiency 27A
Hypoalbuminemia, Hepatosplenomegaly, Leukocytosis, Splenomegaly, Weight loss, Thrombocytosis, Ane... OMIM:209950
Noonan Syndrome 12
Lymphopenia, Thrombocytopenia OMIM:618624
Familial Cold Autoinflammatory Syndrome 2
Elevated circulating C-reactive protein concentration, Leukocytosis, Splenomegaly OMIM:611762
Refractory Anemia
Normocytic anemia, Bone marrow hypocellularity, Anemia of inadequate production, Macrocytic anemi... ORPHA:98826
Unclassified Myelodysplastic Syndrome
Bone marrow hypocellularity, Acute myeloid leukemia, Leukocytosis ORPHA:98827
Proteasome-Associated Autoinflammatory Syndrome 2
Decreased proportion of memory B cells, Failure to thrive, Lipodystrophy, Thrombocytopenia, B lym... OMIM:618048
Wiskott-Aldrich Syndrome
Decreased mean platelet volume, Decreased proportion of CD8-positive T cells, Lymphopenia, Decrea... OMIM:301000
Agammaglobulinemia 4, Autosomal Recessive
Neutropenia, Abnormal T cell morphology OMIM:613502
Immunodeficiency 114, Folate-Responsive
Increased circulating ferritin concentration, Lymphopenia, Splenomegaly, Megaloblastic anemia, Th... OMIM:620603
Immunodeficiency 64 With Lymphoproliferation
Increased proportion autoreactive unresponsive CD21-/low B cells, Abnormal CD4:CD8 ratio, Failure... OMIM:618534
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality
Bone marrow hypocellularity, Abnormal neutrophil morphology, Leukopenia, Abnormal erythrocyte mor... ORPHA:86841
Congenital Disorder Of Glycosylation, Type Iic
Cellulitis, Reduction of neutrophil motility, Neutrophilia OMIM:266265
Immunodeficiency 62
Decreased proportion of memory B cells, Autoimmune thrombocytopenia, Increased proportion of tran... OMIM:618459
Multicentric Reticulohistiocytosis
Cachexia, Histiocytosis ORPHA:139436
Hemoglobin H Disease
Splenomegaly, Reduced alpha/beta synthesis ratio, Hemolytic anemia, HbH hemoglobin OMIM:613978
Agammaglobulinemia 8B, Autosomal Recessive
B Acute Lymphoblastic Leukemia, Failure to thrive, Pancytopenia, Splenomegaly, Increased proporti... OMIM:619824
Relapsing Fever
Increased total bilirubin, Elevated circulating creatinine concentration, Leukopenia, Leukocytosi... ORPHA:91547
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Decreased CD4:CD8 ratio, Splenomegaly, Failure to thrive, Autoimmune hemolytic anemia OMIM:618495
Ataxia-Pancytopenia Syndrome
Acute myelomonocytic leukemia, Pancytopenia, Thrombocytopenia, Neutropenia, Anemia, Hypoplastic a... OMIM:159550
Acute Monoblastic/Monocytic Leukemia
Hypochromic anemia, Acute monocytic leukemia, Leukocytosis, Lymphocytosis, Weight loss, Anemia ORPHA:514
Immunodeficiency 109 With Lymphoproliferation
Pancytopenia, Absent circulating B cells, Splenomegaly, Hypertriglyceridemia OMIM:620282
Essential Thrombocythemia
Acute leukemia, Leukocytosis, Splenomegaly, Abnormal platelet morphology, Thrombocytosis ORPHA:3318
Immunodeficiency 46
Anemia, Failure to thrive, Neutropenia, Intermittent thrombocytopenia OMIM:616740
Sneddon Syndrome
Lymphopenia, Atrophic scars OMIM:182410
Leishmaniasis
Hypoalbuminemia, Pancytopenia, Leukopenia, Splenomegaly, Abnormal macrophage morphology, Weight l... ORPHA:507
Agammaglobulinemia 2, Autosomal Recessive
Absent circulating B cells, Abnormal T cell morphology OMIM:613500
Immunodeficiency, Common Variable, 1
Abnormal T cell count, Splenomegaly, Decreased proportion of class-switched memory B cells, Neutr... OMIM:607594
Immunodeficiency 81
Abnormally low T cell receptor excision circle level, Autoimmune hemolytic anemia, Abscess, Decre... OMIM:619374
Ataxia-Pancytopenia Syndrome
Acute myelomonocytic leukemia, Pancytopenia, Abnormal macrophage morphology, Splenomegaly, Hypopl... ORPHA:2585
Caspase 8 Deficiency
Decreased CD4:CD8 ratio, Splenomegaly, Failure to thrive OMIM:607271
Immunodeficiency 37
Decreased proportion of central memory CD4-positive, alpha-beta T cells OMIM:616098
Aplasia Cutis Congenita With Intestinal Lymphangiectasia
Lymphopenia, Hypoproteinemia OMIM:207731
Autoimmune Lymphoproliferative Syndrome
Autoimmune hemolytic anemia, Splenomegaly, Elevated proportion of CD4-negative, CD8-negative, alp... OMIM:601859
Leukodystrophy, Hypomyelinating, 24
Flexion contracture, B lymphocytopenia OMIM:619851
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis
Abnormally low T cell receptor excision circle level, Reduction of neutrophil motility, Rectal ab... OMIM:608203
Diamond-Blackfan Anemia 8
Wide nasal bridge, Increased mean corpuscular volume, Macrocytic anemia, Neutropenia, Short nose OMIM:612563
Beta-Thalassemia Intermedia
Osteopenia, Abnormality of iron homeostasis, Extramedullary hematopoiesis, Persistence of hemoglo... ORPHA:231222
Beta-Thalassemia
Microcytic anemia, Splenomegaly, Abnormal hemoglobin, Thrombocytopenia, Anemia, Abnormality of ir... ORPHA:848
Immunodeficiency, Common Variable, 6
Abnormal T cell count, Autoimmune thrombocytopenia, Abnormal B cell count OMIM:613496
Spinocerebellar Ataxia, Autosomal Recessive 23
Hyponatremia, Neutropenia OMIM:616949
Agammaglobulinemia 10, Autosomal Dominant
Transient neutropenia, Absent circulating B cells OMIM:619707
Generalized Eruptive Histiocytosis
Leukemia, Hypereosinophilia, Histiocytosis ORPHA:157991
Hemolytic Uremic Syndrome, Atypical, 8, With Rhizomelic Short Stature
Wide nasal bridge, Lymphopenia, Leukopenia, Elevated circulating creatinine concentration, Reduce... OMIM:301110
Purine Nucleoside Phosphorylase Deficiency
Hypouricemia, Lymphopenia, Autoimmune hemolytic anemia, Abnormal T cell morphology, Decreased pro... ORPHA:760
Specific Granule Deficiency 1
Increased neutrophil mitochondria, Increased neutrophil ribosomes, Absent neutrophil lactoferrin,... OMIM:245480
Congenital Disorder Of Glycosylation, Type Iir
Decreased proportion of CD4-positive T cells OMIM:301045
Herpes Simplex Virus Encephalitis
Elevated circulating C-reactive protein concentration, Hyponatremia, Leukocytosis, Neutrophilia ORPHA:1930
Cinca Syndrome
Hepatosplenomegaly, Leukocytosis, Eosinophilia, Elevated circulating C-reactive protein concentra... OMIM:607115
Neutropenia, Severe Congenital, 3, Autosomal Recessive
Acute lymphoblastic leukemia, Neutropenia OMIM:610738
Immunodeficiency, Common Variable, 13
Pancytopenia, Acute lymphoblastic leukemia, B lymphocytopenia OMIM:616873
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Cellulitis, Decreased proportion of CD4+CD25+ regulatory T cells, Failure to thrive in infancy, H... OMIM:606367
Sea-Blue Histiocyte Disease
Splenomegaly, Thrombocytopenia, Sea-blue histiocytosis OMIM:269600
Deafness-Lymphedema-Leukemia Syndrome
Bone marrow hypocellularity, Acute leukemia, Leukocytosis, Splenomegaly, Weight loss, Thrombocyto... ORPHA:3226
Epidermodysplasia Verruciformis, Susceptibility To, 4
Increased proportion of exhausted T cells OMIM:618307
Leukocyte Adhesion Deficiency, Type Iii
Extramedullary hematopoiesis, Hepatosplenomegaly, Leukocytosis, Splenomegaly, Osteopetrosis, Anemia OMIM:612840
Specific Granule Deficiency 2
Osteopenia, Failure to thrive, Absent neutrophil specific granules, Amelogenesis imperfecta, Thro... OMIM:617475
Anal Fistula
Cellulitis, Leukocytosis ORPHA:228113
Neutropenia, Lethal Congenital, With Eosinophilia
Eosinophilia, Neutropenia OMIM:257100
Cyanosis, Transient Neonatal
Anemia, Methemoglobinemia, Reticulocytosis OMIM:613977
Muckle-Wells Syndrome
Elevated circulating C-reactive protein concentration, Leukocytosis OMIM:191900
Acute Panmyelosis With Myelofibrosis
Bone marrow hypocellularity, Acute myelomonocytic leukemia, Pancytopenia, Splenomegaly, Acute mye... ORPHA:86843
Acetophenetidin Sensitivity
Methemoglobinemia, Hemolytic anemia OMIM:200300
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Increased circulating iron concentration, Reduced red cell pyruvate kinase level, Increased circu... ORPHA:766
Familial Cold Autoinflammatory Syndrome 1
Elevated circulating C-reactive protein concentration, Leukocytosis OMIM:120100
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Bone marrow hypocellularity, Increased mean corpuscular volume, Pancytopenia, Acute myeloid leuke... OMIM:619041
Ziegler-Huang Syndrome
Bone marrow hypocellularity, Neutropenia, Macrocytic anemia, Persistence of hemoglobin F OMIM:620501
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Failure to thrive secondary to recurrent infections, Lymphopenia, Hepatosplenomegaly, Eosinophili... ORPHA:169160
Beta-Thalassemia, Dominant Inclusion Body Type
Persistence of hemoglobin F, Microcytic anemia, Splenomegaly, Erythrocyte inclusion bodies, Incre... OMIM:603902
Aggressive Systemic Mastocytosis
Hepatosplenomegaly, Pancytopenia, Hypersplenism, Leukocytosis, Increased proportion of CD25+ mast... ORPHA:98850
Immunodeficiency 36 With Lymphoproliferation
Lymphopenia, Splenomegaly, Chronic lymphatic leukemia, Increased proportion of transitional B cel... OMIM:616005
Whim Syndrome 1
Neutropenia OMIM:193670
Cryptogenic Organizing Pneumonia
Elevated circulating C-reactive protein concentration, Weight loss, Leukocytosis, Neutrophilia ORPHA:1302
Immunodeficiency 98 With Autoinflammation, X-Linked
Bone marrow hypocellularity, Hemophagocytosis, Agranulocytosis, Autoimmune hemolytic anemia, Sple... OMIM:301078
Chronic Beryllium Disease
Weight loss, Abnormal proportion of CD4-positive T cells ORPHA:133
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Hemophagocytosis, Increased circulating ferritin concentration, Hepatosplenomegaly, Splenomegaly,... OMIM:613101
Hemoglobin C-Beta-Thalassemia Syndrome
Anemia, Splenomegaly, Microcytic anemia, Abnormal hemoglobin ORPHA:231242
Refractory Anemia With Excess Blasts
Abnormal mean corpuscular volume, Bone marrow hypocellularity, Leukocytosis, Anemia of inadequate... ORPHA:86839
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis
Hyponatremia, Leukocytosis, Thrombocytopenia ORPHA:83601
Immunodeficiency 110 With Lymphoproliferation
Lymphopenia, Autoimmune hemolytic anemia, Neutropenia OMIM:614868
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency
Increased T cell count, Osteopenia, Increased B cell count, Failure to thrive ORPHA:98813
Agammaglobulinemia 6, Autosomal Recessive
Abnormal T cell morphology, B lymphocytopenia OMIM:612692
Anemia, Sideroblastic, 5
Reduced hematocrit, Hypochromic microcytic anemia, Thrombocytopenia, Anemia, Neutropenia OMIM:619523
Hemoglobin E Disease
Increased red blood cell count, Reduced hemoglobin A, Drug-sensitive hemolytic anemia, Splenomega... ORPHA:2133
Pseudo-Torch Syndrome 3
Anemia, Leukocytosis, Congenital thrombocytopenia, Increased circulating ferritin concentration OMIM:618886
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 6
Abnormally low T cell receptor excision circle level, Lymphopenia, Pancytopenia, Bone marrow hypo... OMIM:619767
Obesity Due To Congenital Leptin Deficiency
Obesity, Decreased proportion of CD4-positive helper T cells, Hypertriglyceridemia ORPHA:66628
X-Linked Sideroblastic Anemia
Anemia, Abnormality of iron homeostasis, Splenomegaly ORPHA:75563
Immunodeficiency 22
Failure to thrive, Decreased proportion of CD4-positive helper T cells, Abscess, Thrombocytopenia... OMIM:615758
Cinca Syndrome
Leukocytosis, Splenomegaly, Elevated circulating C-reactive protein concentration, Anemia, Abnorm... ORPHA:1451
Chronic Myeloid Leukemia
Abnormal granulocyte morphology, Leukocytosis, Splenomegaly, Abnormal basophil morphology, Thromb... ORPHA:521
Obesity Due To Leptin Receptor Gene Deficiency
Obesity, Decreased proportion of CD4-positive helper T cells, Hypertriglyceridemia ORPHA:179494
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7
Anemia, Lymphopenia, Osteopenia, Thrombocytopenia OMIM:620365
Sickle Cell Anemia
Splenic infarction, Hypochromic anemia, Increased mean corpuscular volume, Unconjugated hyperbili... ORPHA:232
Immunodeficiency 92
Thrombocytosis, Leukocytosis, Lymphocytosis, Decreased proportion of class-switched memory B cell... OMIM:619652
Delta-Beta-Thalassemia
Anemia, Microcytic anemia, Abnormal hemoglobin ORPHA:231237
Generalized Pustular Psoriasis
Hypoalbuminemia, Lymphopenia, Obesity, Leukocytosis, Hypocalcemia, Hyponatremia, Elevated circula... ORPHA:247353
Omenn Syndrome
Failure to thrive, Splenomegaly, Hypoplasia of the thymus, Eosinophilia, Anemia, Thrombocytopenia... OMIM:603554
Eosinophilic Gastroenteritis
Hypoalbuminemia, Leukocytosis, Eosinophilia, Weight loss, Elevated circulating C-reactive protein... ORPHA:2070
Wolfram Syndrome, Mitochondrial Form
Sideroblastic anemia, Neutropenia, Megaloblastic anemia, Thrombocytopenia OMIM:598500
Progeria-Short Stature-Pigmented Nevi Syndrome
Osteopenia, Microcytic anemia, Multiple joint contractures, Lack of facial subcutaneous fat, Gene... ORPHA:2959
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Failure to thrive, Splenomegaly, Hyperammonemia, Thrombocytopenia, Neutropenia, Anemia ORPHA:79312
Cyclic Neutropenia
Cellulitis, Lymphopenia, Cyclic neutropenia, Perianal abscess, Tooth abscess, Thrombocytopenia, D... ORPHA:2686
Autoimmune Lymphoproliferative Syndrome, Type Iia
Autoimmune hemolytic anemia, Splenomegaly, Elevated proportion of CD4-negative, CD8-negative, alp... OMIM:603909
T-Cell Immunodeficiency With Thymic Aplasia
Failure to thrive, Hypocalcemic tetany, Decreased proportion of naive T cells, Aplasia of the thy... ORPHA:83471
Microcephalic Primordial Dwarfism, Toriello Type
Enamel hypoplasia, Neutropenia ORPHA:2643
Lymphoproliferative Syndrome, X-Linked, 2
Aplastic anemia, Hemophagocytosis, Increased circulating ferritin concentration, Pancytopenia, Sp... OMIM:300635
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome
Splenic infarction, Persistence of hemoglobin F, Increased red cell sickling tendency, Reticulocy... ORPHA:251380
Primary Myelofibrosis
Extramedullary hematopoiesis, Hepatosplenomegaly, Pancytopenia, Leukocytosis, Splenomegaly, Throm... ORPHA:824
Autoinflammatory-Pancytopenia Syndrome
Granuloma, Hemophagocytosis, Failure to thrive, Hepatosplenomegaly, Pancytopenia, Lipodystrophy OMIM:619858
Diaph1-Related Sensorineural Hearing Loss-Thrombocytopenia Syndrome
Enamel hypomineralization, Iron deficiency anemia, Thrombocytopenia, Neutropenia, Increased mean ... ORPHA:494444
Icf Syndrome
Anemia, Lymphopenia, Abnormality of neutrophils, Umbilical hernia ORPHA:2268
Diffuse Alveolar Hemorrhage
Elevated circulating creatinine concentration, Leukocytosis, Weight loss, Thrombocytopenia, Anemia ORPHA:90060
Tularemia
Brain abscess, Cutaneous abscess, Leukocytosis, Thrombocytopenia, Anemia ORPHA:3392
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia
Leukocytosis, Splenomegaly OMIM:618042
Erythrocytosis, Familial, 8
Polycythemia, Increased hematocrit, Splenomegaly, Increased circulating hemoglobin concentration,... OMIM:222800
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome
Lymphopenia ORPHA:391307
Staphylococcal Necrotizing Pneumonia
Elevated circulating C-reactive protein concentration, Leukopenia, Leukocytosis, Neutrophilia ORPHA:36238
Majeed Syndrome
Failure to thrive, Leukocytosis, Splenomegaly, Cachexia, Weight loss, Hypochromic microcytic anem... ORPHA:77297
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Brain abscess, Weight loss, Elevated circulating C-reactive protein concentration, Neutrophilia, ... ORPHA:54251
Erythrocytosis, Familial, 1
Increased circulating hemoglobin concentration, Increased hematocrit, Splenomegaly, Increased red... OMIM:133100
Retinitis Pigmentosa And Erythrocytic Microcytosis
Decreased circulating iron concentration, Leukopenia, Elliptocytosis, Anisocytosis, Hypochromia, ... OMIM:616959
Primary Familial Polycythemia
Polycythemia, Abnormal hemoglobin ORPHA:90042
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Anemia, Thrombocytopenia, Hyperammonemia, Neutropenia ORPHA:289916
Neutropenia, Nonimmune Chronic Idiopathic, Of Adults
Acute myeloid leukemia, Neutropenia OMIM:607847
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2
Short nose, B lymphocytopenia OMIM:614069
Diamond-Blackfan Anemia 4
Erythroid hypoplasia, Reticulocytopenia, Neutropenia, Macrocytic anemia OMIM:612527
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency
Decreased proportion of memory B cells, B lymphocytopenia ORPHA:70593
Proteasome-Associated Autoinflammatory Syndrome 3
Failure to thrive, Lymphopenia, Splenomegaly, Lipodystrophy, Thrombocytopenia, Hypertriglyceridem... OMIM:617591
Idiopathic Chronic Eosinophilic Pneumonia
Elevated circulating C-reactive protein concentration, Hypereosinophilia, Leukocytosis, Weight loss ORPHA:2902
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2
Hepatosplenomegaly, Congenital thrombocytopenia, Neutropenia, Thrombocytopenia, Anemia OMIM:616738
Slc35A1-Cdg
Cellulitis, Giant platelets, Abnormal platelet granules, Thrombocytopenia, Neutropenia ORPHA:238459
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Leukocytosis, Reticulocytosis, Splenomegaly, Anisocytosis, Heinz bodies, Fava bean-induced hemoly... OMIM:300908
Gamma-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R5
Achilles tendon contracture, Abnormal macrophage morphology, Elevated circulating creatine kinase... ORPHA:353
Acute Promyelocytic Leukemia
Pancytopenia, Leukopenia, Leukocytosis, Weight loss, Neutropenia, Thrombocytopenia, Anemia ORPHA:520
Activated Pi3K-Delta Syndrome
Splenomegaly, Failure to thrive, B lymphocytopenia ORPHA:397596
Immunodeficiency With Hyper-Igm, Type 3
Neutropenia OMIM:606843
Anterior Cutaneous Nerve Entrapment Syndrome
Leukocytosis, Inguinal hernia, Decreased body weight ORPHA:51890
Omenn Syndrome
Failure to thrive, Abnormal lymphocyte morphology, Leukocytosis, Splenomegaly, Eosinophilia, Anemia ORPHA:39041
Immunodeficiency 93 And Hypertrophic Cardiomyopathy
Absent circulating B cells, Decreased proportion of class-switched memory B cells, Neutropenia, B... OMIM:619705
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Abnormally low T cell receptor excision circle level, Failure to thrive, Lymphopenia, Splenomegal... OMIM:602450
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5
Anemia, Elevated circulating creatinine concentration, Hyperuricemia, Neutropenia OMIM:617056
High Altitude Pulmonary Edema
Leukocytosis ORPHA:330012
Subacute Inflammatory Demyelinating Polyneuropathy
Leukocytosis ORPHA:206594
Gitelman Syndrome
Hypermagnesemia, Chondrocalcinosis, Failure to thrive, Hypomagnesemia, Hypocalcemia, Hypokalemia,... ORPHA:358
Lead Poisoning
Cranial hyperostosis, Imbalanced hemoglobin synthesis, Decreased HDL cholesterol concentration, I... ORPHA:330015
Thrombocytopenia 5
Increased mean corpuscular volume, B Acute Lymphoblastic Leukemia, Neutropenia, Thrombocytopenia,... OMIM:616216
Erythrocytosis, Familial, 4
Increased circulating hemoglobin concentration, Increased hematocrit, Polycythemia OMIM:611783
Hemophagocytic Lymphohistiocytosis, Familial, 1
Hypoalbuminemia, Hemophagocytosis, Failure to thrive, Increased circulating ferritin concentratio... OMIM:267700
Immunodeficiency 7
Failure to thrive, Hypereosinophilia, Splenomegaly, Autoimmune hemolytic anemia, Neutropenia OMIM:615387
Congenital Enterovirus Infection
Hypoalbuminemia, Leukopenia, Leukocytosis, Abnormal macrophage morphology, Hyperammonemia, Neutro... ORPHA:292
Psoriasis 14, Pustular
Elevated circulating C-reactive protein concentration, Leukocytosis, Neutrophilia OMIM:614204
Wolcott-Rallison Syndrome
Hypoalbuminemia, Hyperbilirubinemia, Hyperammonemia, Decreased body weight, Hyponatremia, Lymphoc... ORPHA:1667
Tafro Syndrome
Hepatosplenomegaly, Leukocytosis, Splenomegaly, Elevated circulating C-reactive protein concentra... ORPHA:457077
T-Cell Lymphoma, Subcutaneous Panniculitis-Like
Hemophagocytosis, Increased circulating ferritin concentration, Pancytopenia, Splenomegaly, Hyper... OMIM:618398
Purine Nucleoside Phosphorylase Deficiency
Hypouricemia, Failure to thrive, Lymphopenia, Autoimmune hemolytic anemia, Splenomegaly, Increase... OMIM:613179
Systemic Mastocytosis With Associated Hematologic Neoplasm
Normocytic anemia, Chronic myelomonocytic leukemia, Leukocytosis, Splenomegaly, Chronic lymphatic... ORPHA:98849
Pelger-Huet Anomaly
Giant platelets, Failure to thrive, Umbilical hernia, Hyposegmentation of neutrophil nuclei, Thro... OMIM:169400
Felty Syndrome
Cellulitis, Bone marrow hypocellularity, Abnormal lymphocyte morphology, Splenomegaly, Weight los... ORPHA:47612
Cystinosis, Nephropathic
Decreased circulating carnitine concentration, Rickets, Failure to thrive, Hypomagnesemia, Failur... OMIM:219800
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome
Bone marrow hypocellularity, Lymphopenia, Leukopenia, Reticulocytopenia, B lymphocytopenia, Neutr... ORPHA:508542
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Failure to thrive, Elevated circulating propionylcarnitine concentration, Inguinal hernia, Hypome... OMIM:614857
Hemochromatosis, Type 2B
Increased circulating iron concentration, Increased circulating ferritin concentration, Splenomeg... OMIM:613313
Macrocephaly/Autism Syndrome
Lymphopenia, Obesity, Large for gestational age, Splenomegaly, Short nose OMIM:605309
Trichothiodystrophy 3, Photosensitive
Lymphopenia, Failure to thrive, Neutropenia OMIM:616395
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Failure to thrive, Decreased FOXP3-expressing T cell count, Eosinophilia, Coombs-positive hemolyt... OMIM:304790
Fanconi Anemia, Complementation Group V
Bone marrow hypocellularity, Thrombocytopenia, Neutropenia, Anemia, Elevated circulating alpha-fe... OMIM:617243
Immunodeficiency 96
Increased proportion of gamma-delta T cells, Increased mean corpuscular volume OMIM:619774
Griscelli Syndrome Type 2
Hemophagocytosis, Pancytopenia, Hyperlipidemia, Splenomegaly, Neutropenia ORPHA:79477
Amegakaryocytic Thrombocytopenia, Congenital, 2
Bone marrow hypocellularity, Aplastic anemia, Pancytopenia, Thrombocytopenia, Neutropenia, Anemia... OMIM:620481
Thrombocytopenia 2
Abnormal platelet shape, Abnormal platelet volume, Leukocytosis, Thrombocytopenia OMIM:188000
Hypocalcemic Vitamin D-Dependent Rickets
Delayed epiphyseal ossification, Hypochromic anemia, Rickets, Failure to thrive, Osteomalacia, Le... ORPHA:289157
Shwachman-Diamond Syndrome 1
Failure to thrive, Persistence of hemoglobin F, Pancytopenia, Irregular ossification at anterior ... OMIM:260400
Erythrocytosis, Familial, 5
Increased circulating hemoglobin concentration, Increased hematocrit, Polycythemia OMIM:617907
Anemia, Congenital Dyserythropoietic, Type Iv
Increased RBC distribution width, Persistence of hemoglobin F, Hepatosplenomegaly, Reduced hemato... OMIM:613673
Spondyloenchondrodysplasia With Immune Dysregulation
Lymphopenia, Sclerosis of skull base, T lymphocytopenia, Neutropenia, Autoimmune thrombocytopenia OMIM:607944
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Anemia, Lymphopenia, Reduced bone mineral density, Inguinal hernia ORPHA:935
Trichothiodystrophy 6, Nonphotosensitive
Coronal craniosynostosis, Increased HbA2 hemoglobin, Increased bone mineral density, Decreased me... OMIM:616943
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Lymphopenia, Leukocytosis, Autoimmune hemolytic anemia, Hypoplasia of the thymus, Enamel hypoplas... OMIM:243150
Severe Combined Immunodeficiency Due To Dclre1C Deficiency
Decreased proportion of CD3-positive T cells, Failure to thrive ORPHA:275
Mirage Syndrome
Radial club hand, Lymphopenia, Leukopenia, Decreased body weight, Hyponatremia, Thrombocytopenia,... OMIM:617053
Diamond-Blackfan Anemia 5
Erythroid hypoplasia, Leukopenia, Reticulocytopenia, Macrocytic anemia OMIM:612528
Ataxia-Telangiectasia
Failure to thrive, Lymphopenia, Decreased proportion of CD4-positive helper T cells, Abnormal B c... OMIM:208900
Diffuse Cutaneous Mastocytosis
Abnormality of the spleen, Myeloproliferative disorder, Lymphocytosis ORPHA:79456
Myopathy With Extrapyramidal Signs
Extremely elevated creatine kinase, Leukocytosis, Splenomegaly, Elevated circulating creatine kin... OMIM:615673
Schimke Immunoosseous Dysplasia
Wide nasal bridge, Osteopenia, Lymphopenia, Pancytopenia, Abnormal T cell morphology, Thrombocyto... OMIM:242900
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Granuloma, Lymphopenia, Hepatosplenomegaly, Impaired oxidative burst, Abscess, Splenomegaly, Peri... OMIM:618935
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Failure to thrive, Leukopenia, Hyperglycinemia, Hyperammonemia, Thrombocytopenia, Neutropenia, Me... OMIM:251000
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Failure to thrive, Lymphopenia, Autoimmune hemolytic anemia, Splenomegaly, Reduced red cell adeno... OMIM:102700
Neutropenia, Severe Congenital, 8, Autosomal Dominant
Neutropenia OMIM:618752
Acute Radiation Syndrome
Lymphopenia, Granulocytopenia, Thrombocytopenia ORPHA:454831
Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy
Hypokalemia, Hyponatremia, Hypocalcemia, Hypomagnesemia OMIM:620152
X-Linked Agammaglobulinemia
Cellulitis, Failure to thrive, Hypocalcemia, Weight loss, Thrombocytopenia, Neutropenia, Anemia, ... ORPHA:47
Propionic Acidemia
Failure to thrive, Pancytopenia, Hyperglycinemia, Hyperammonemia, Thrombocytopenia, Neutropenia, ... OMIM:606054
Hereditary Methemoglobinemia
Methemoglobinemia, Small for gestational age ORPHA:621
Erythrocytosis, Familial, 2
Increased circulating hemoglobin concentration, Increased hematocrit, Increased red blood cell ma... OMIM:263400
Reni Syndrome
Hypoalbuminemia, Lymphopenia, Hypertriglyceridemia OMIM:617575
Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency
Bone marrow hypocellularity, Failure to thrive, Umbilical hernia, Large for gestational age, Thro... OMIM:614520
Methylcobalamin Deficiency Type Cble
Increased mean corpuscular volume, Failure to thrive, Pancytopenia, Macrocytic anemia, Hypomethio... ORPHA:2169
Hypomagnesemia, Seizures, And Impaired Intellectual Development 1
Class III obesity, Hypomagnesemia OMIM:616418
Sting-Associated Vasculopathy, Infantile-Onset
Failure to thrive, Lymphopenia, Leukopenia, Elevated circulating C-reactive protein concentration... OMIM:615934
Onychotrichodysplasia And Neutropenia
Lymphocytosis, Chronic neutropenia, Neutropenia OMIM:258360
Hypocalcemia, Autosomal Dominant 1
Hyperphosphatemia, Hypomagnesemia, Hypocalcemia, Hypokalemia, Increased circulating renin level OMIM:601198
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Lymphopenia, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Splenomegaly OMIM:616100
Agammaglobulinemia 9, Autosomal Recessive
Absent circulating B cells, Failure to thrive, Thrombocytopenia OMIM:619693
Erythrocytosis, Familial, 3
Increased circulating hemoglobin concentration, Increased hematocrit, Increased red blood cell mass OMIM:609820
Bone Marrow Failure Syndrome 3
Bone marrow hypocellularity, Aplastic anemia, Increased mean corpuscular volume, Failure to thriv... OMIM:617052
Dyskeratosis Congenita, Autosomal Dominant 2
Bone marrow hypocellularity, Aplastic anemia, Failure to thrive, Pancytopenia, Leukopenia, Thromb... OMIM:613989
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities
Lymphopenia, Eosinophilia, Delayed ossification of carpal bones OMIM:617425
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis
Osteopenia, Periostitis, Failure to thrive in infancy, Splenomegaly, Abscess, Neutrophilia, Eleva... OMIM:612852
Ebola Hemorrhagic Fever
Lymphopenia, Leukopenia, Thrombocytopenia ORPHA:319218
Hemophagocytic Lymphohistiocytosis, Familial, 2
Hypoalbuminemia, Hemophagocytosis, Failure to thrive, Increased circulating ferritin concentratio... OMIM:603553
Lig4 Syndrome
Wide nasal bridge, Acute leukemia, Pancytopenia, Leukocytosis ORPHA:99812
Adult-Onset Still Disease
Bone marrow hypocellularity, Abnormal circulating lipid concentration, Increased circulating ferr... ORPHA:829
Sea-Blue Histiocytosis
Splenomegaly, Thrombocytopenia, Sea-blue histiocytosis ORPHA:158029