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Gene: Ptpn2 MGI:97806

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Gene Summary

Name:
protein tyrosine phosphatase, non-receptor type 2
Synonyms:
TC-PTP,  Ptpt

Order Alleles

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 hemoglobin content Ptpn2tm1a(EUCOMM)Wtsi HET   Early adult 9.93×10-06

Download data as:  TSV  XLS

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Viewing: all phenotypes

lacZ Expression

An assay measuring the expression of lacZ shows the tissue where the gene is expressed.

Anatomy Images Zygosity Mutant Expr
Adrenal gland N/A heterozygote 0.0% (0 of 2)
Aorta N/A heterozygote Not available
Blood vessel N/A heterozygote 0.0% (0 of 2)
Bone N/A heterozygote 0.0% (0 of 2)
Brain N/A heterozygote 0.0% (0 of 2)
Brainstem N/A heterozygote Not available
Brown adipose tissue N/A heterozygote 0.0% (0 of 2)
Cartilage tissue N/A heterozygote 0.0% (0 of 2)
Cerebellum N/A heterozygote Not available
Cerebral cortex N/A heterozygote Not available
Eye N/A heterozygote 0.0% (0 of 2)
Gall bladder N/A heterozygote 0.0% (0 of 2)
Heart N/A heterozygote 0.0% (0 of 2)
Hippocampus N/A heterozygote Not available
Hypothalamus N/A heterozygote Not available
Kidney N/A heterozygote 100% (2 of 2)
Large intestine N/A heterozygote 0.0% (0 of 2)
Liver N/A heterozygote 0.0% (0 of 2)
Lower urinary tract N/A heterozygote 0.0% (0 of 2)
Lung N/A heterozygote 0.0% (0 of 2)
Lymph node N/A heterozygote 0.0% (0 of 2)
Mammary gland N/A heterozygote 0.0% (0 of 2)
Esophagus N/A heterozygote 0.0% (0 of 2)
Olfactory lobe N/A heterozygote Not available
Ovary N/A heterozygote 0.0% (0 of 2)
Oviduct N/A heterozygote 0.0% (0 of 2)
Pancreas N/A heterozygote 0.0% (0 of 2)
Parathyroid gland N/A heterozygote 0.0% (0 of 2)
Peripheral nervous system N/A heterozygote 0.0% (0 of 2)
Peyer's patch N/A heterozygote 0.0% (0 of 2)
Pituitary gland N/A heterozygote 0.0% (0 of 2)
Prostate gland N/A heterozygote 0.0% (0 of 2)
Skeletal muscle tissue N/A heterozygote 0.0% (0 of 2)
Skin N/A heterozygote 0.0% (0 of 2)
Small intestine N/A heterozygote 0.0% (0 of 2)
Spinal cord N/A heterozygote 0.0% (0 of 2)
Spleen N/A heterozygote 0.0% (0 of 2)
Stomach N/A heterozygote 0.0% (0 of 2)
Striatum N/A heterozygote Not available
Testis N/A heterozygote Not available
Thymus N/A heterozygote 0.0% (0 of 2)
Thyroid gland N/A heterozygote Ambiguous
Trachea N/A heterozygote 0.0% (0 of 2)
Uterus N/A heterozygote 0.0% (0 of 2)
White adipose tissue N/A heterozygote 0.0% (0 of 2)
No Embryo expression data was found for this gene.

Background staining occurs in wild type mice and embryos at an incidental rate.

Anatomy Background staining in controls (WT)
adrenal gland 0.0%
aorta 0.0%
blood vessel
bone 0.0%
brain 0.0%
brainstem 0.0%
brown adipose tissue 0.0%
cartilage tissue 0.0%
cerebellum 0.0%
cerebral cortex 0.0%
eye 0.0%
gall bladder 0.0%
heart 0.0%
hippocampus 0.0%
hypothalamus 0.0%
kidney 0.0%
large intestine 0.0%
liver 0.0%
lower urinary tract 0.0%
lung 0.0%
lymph node 0.0%
mammary gland 0.0%
oesophagus
olfactory lobe 0.0%
ovary 0.0%
oviduct 0.0%
pancreas 0.0%
parathyroid gland 0.0%
peripheral nervous system 0.0%
peyer's patch
pituitary gland 0.0%
prostate gland 0.0%
skeletal muscle tissue
skin 0.0%
small intestine 0.0%
spinal cord 0.0%
spleen 0.0%
stomach 0.0%
striatum 0.0%
testis 0.0%
thymus 0.0%
thyroid gland 0.0%
trachea 0.0%
uterus 0.0%
white adipose tissue 0.0%
No Embryo expression data was found for this gene.

Associated Images

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

Histopathology

Images

8 Images

View images
Legacy Phenotype Associated Images
Ptpn2tm1a(EUCOMM)Wtsi
body, HET, Female, WTSI
Ptpn2tm1a(EUCOMM)Wtsi
head, HET, Female, WTSI
Ptpn2tm1a(EUCOMM)Wtsi
body, HET, Female, WTSI
Ptpn2tm1a(EUCOMM)Wtsi
head, HET, Female, WTSI
Ptpn2tm1a(EUCOMM)Wtsi
body, HET, Female, WTSI

View all 139 images

Ptpn2tm1a(EUCOMM)Wtsi
back skin, WT, Female, WTSI
Ptpn2tm1a(EUCOMM)Wtsi
back skin, WT, Female, WTSI
Ptpn2tm1a(EUCOMM)Wtsi
back skin, HET, Female, WTSI
Ptpn2tm1a(EUCOMM)Wtsi
eye, abnormal optic disc morphology, HET, Female, WTSI
Ptpn2tm1a(EUCOMM)Wtsi
eye, abnormal optic disc morphology, HET, Female, WTSI

Human diseases caused by Ptpn2 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 Ptpn2 by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis
Hip osteoarthritis, Ankle swelling, Abnormal shoulder morphology, Hepatosplenomegaly, Abnormal hi... ORPHA:85408
Oligoarticular Juvenile Idiopathic Arthritis
Abnormal circulating interleukin concentration, Rheumatoid arthritis, Increased circulating inter... ORPHA:85410

The table below shows human diseases predicted to be associated to Ptpn2 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Hemoglobin-Delta locus
Anemia, Imbalanced hemoglobin synthesis OMIM:142000
Hemoglobin D Disease
Reduced beta/alpha synthesis ratio, Reduced hemoglobin A, Imbalanced hemoglobin synthesis, Spleno... ORPHA:90039
Thalassemia, Beta+, Silent Allele
Reduced beta/alpha synthesis ratio OMIM:187550
Fetal Hemoglobin Quantitative Trait Locus 1
Persistence of hemoglobin F OMIM:141749
Hemoglobin E-Beta-Thalassemia Syndrome
Anemia, Abnormal hemoglobin ORPHA:231249
Severe Combined Immunodeficiency Due To Foxn1 Deficiency
T lymphocytopenia ORPHA:169095
Immunodeficiency 105
Decreased circulating IgG level, Reduced natural killer cell count, Absence of lymph node germina... OMIM:619924
Acetophenetidin Sensitivity
Methemoglobinemia, Hemolytic anemia OMIM:200300
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation
Herpes simplex encephalitis, Recurrent otitis media, Increased circulating IgE level, Hepatosplen... OMIM:618982
Delta-Beta-Thalassemia
Anemia, Microcytic anemia, Abnormal hemoglobin ORPHA:231237
Immunodeficiency 104
Pneumonia, Diarrhea, Gastroesophageal reflux, Chronic mucocutaneous candidiasis, Eczematoid derma... OMIM:608971
B-Cell Expansion With Nfkb And T-Cell Anergy
Decreased specific antibody response to polysaccharide vaccine, Decreased circulating IgA level, ... OMIM:616452
Autoimmune Lymphoproliferative Syndrome, Type Iii
Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of memory ... OMIM:615559
Immunodeficiency 52
Recurrent pneumonia, Increased proportion of gamma-delta T cells, Lymphopenia, Decreased circulat... OMIM:617514
Hemoglobin C-Beta-Thalassemia Syndrome
Anemia, Splenomegaly, Microcytic anemia, Abnormal hemoglobin ORPHA:231242
Hemoglobin H Disease
Splenomegaly, Reduced alpha/beta synthesis ratio, Hemolytic anemia, HbH hemoglobin OMIM:613978
Immunodeficiency 48
Pneumonia, Eczematoid dermatitis, Panhypogammaglobulinemia, Abnormal B cell count, Splenomegaly, ... OMIM:269840
Beta-Thalassemia, Dominant Inclusion Body Type
Persistence of hemoglobin F, Microcytic anemia, Splenomegaly, Erythrocyte inclusion bodies, Incre... OMIM:603902
Immunodeficiency, partial combined, with absence of hla determinantsand beta-2-microglobulin from lymphocytes
T lymphocytopenia OMIM:242870
Immunodeficiency 112
Decreased circulating IgG level, Reduced natural killer cell count, Chronic mucocutaneous candidi... OMIM:620449
Immunodeficiency 24
Decreased proportion of memory B cells, Reduced proportion of mucosal-associated invariant T cell... OMIM:615897
Immunodeficiency 76
Recurrent pneumonia, Lymphopenia, Splenomegaly, Chronic diarrhea, Lymphadenopathy, B lymphocytope... OMIM:619164
Immunodeficiency, Common Variable, 1
Pneumonia, Decreased circulating IgG level, Abnormal T cell count, Recurrent pneumonia, Diarrhea,... OMIM:607594
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant
Cellulitis, Splenomegaly, Decreased proportion of class-switched memory B cells, Increased propor... OMIM:615513
Autoimmune Lymphoproliferative Syndrome, Type Iia
Follicular hyperplasia, Increased circulating IgA level, Hepatomegaly, Autoimmune thrombocytopeni... OMIM:603909
Pulmonary Nodular Lymphoid Hyperplasia
Mediastinal lymphadenopathy, Follicular hyperplasia, Plasmacytosis ORPHA:60026
Immunodeficiency, Common Variable, 5
Abnormal T cell count, Abnormal B cell count OMIM:613495
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency
Inflammation of the large intestine, Recurrent otitis media, Increased circulating IgE level, Hyp... ORPHA:98813
Immunodeficiency 27A
Pneumonia, Diarrhea, Increased circulating IgG level, Anorexia, Hepatosplenomegaly, Leukocytosis,... OMIM:209950
Methemoglobinemia, Beta Type
Methemoglobinemia OMIM:617971
Methemoglobinemia, Alpha Type
Methemoglobinemia OMIM:617973
Mu-Heavy Chain Disease
Abnormal B cell count, Splenomegaly, Anemia, Weight loss, Lymphadenopathy, Hepatomegaly, Osteopor... ORPHA:100024
Immunodeficiency 19
Abnormal B cell morphology, T lymphocytopenia, Abnormal natural killer cell morphology, Failure t... OMIM:615617
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Recurrent pneumonia, Inflammatory abnormality of the skin, Diarrhea, Absence of lymph node germin... ORPHA:277
Aicardi-Goutieres Syndrome 6
Intrauterine growth retardation, Chilblains, Splenomegaly, Loss of ambulation, Increased circulat... OMIM:615010
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome
Hepatomegaly, Gait disturbance, Splenomegaly, Ataxia ORPHA:2274
Immunodeficiency 69
Diarrhea, Hemophagocytosis, Hepatosplenomegaly, Pancytopenia, Leukocytosis, Splenomegaly, Skin ra... OMIM:618963
Combined Cellular And Humoral Immune Defects With Granulomas
T lymphocytopenia, B lymphocytopenia OMIM:233650
Immunodeficiency 15A
Decreased proportion of CD8-positive T cells, Decreased proportion of memory B cells, Decreased p... OMIM:618204
Immunodeficiency 75 With Lymphoproliferation
Hepatosplenomegaly, Decreased proportion of class-switched memory B cells, Follicular hyperplasia... OMIM:619126
Alpha-Thalassemia Myelodysplasia Syndrome
Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia OMIM:300448
Fibular Hemimelia
Toe syndactyly, Limitation of joint mobility, Finger syndactyly, Short tibia, Limited knee flexio... ORPHA:93323
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia
Abnormally low T cell receptor excision circle level, Failure to thrive in infancy, Cervical lymp... OMIM:618987
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Hepatitis, Lymphopenia, Splenomegaly, Autoimmune hemolytic anemia, Lymphadenopathy, Autoimmune th... ORPHA:444463
Immunodeficiency, Common Variable, 2
Decreased circulating IgG level, Abnormal T cell count, Recurrent pneumonia, Diarrhea, Impaired T... OMIM:240500
Diamond-Blackfan Anemia 19
Anemia, Erythroid hypoplasia, Steroid-responsive anemia OMIM:618312
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type
Abnormal cortical bone morphology, Splenomegaly, Limb undergrowth, Abnormal limb bone morphology,... ORPHA:2204
Macrophage Activation Syndrome
Abnormal circulating interleukin concentration, Increased circulating interleukin 6 concentration... ORPHA:158061
Cernunnos-Xlf Deficiency
Lymphopenia, Thrombocytopenia, B lymphocytopenia, Anemia, T lymphocytopenia ORPHA:169079
Immunodeficiency 103, Susceptibility To Fungal Infections
Increased circulating IgE level, Hypereosinophilia, Abnormal B cell count, Abnormal proportion of... OMIM:212050
Hemoglobin E Disease
Increased red blood cell count, Reduced hemoglobin A, Drug-sensitive hemolytic anemia, Splenomega... ORPHA:2133
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Anemia, Splenomegaly, Thrombocytopenia, Abnormal hemoglobin ORPHA:231393
Immunodeficiency 84
Perianal abscess, Splenomegaly, B lymphocytopenia OMIM:619437
Caspase 8 Deficiency
Pneumonia, Decreased circulating IgG level, Eczematoid dermatitis, Decreased CD4:CD8 ratio, Decre... OMIM:607271
Osteochondrosis Of The Metatarsal Bone
Abnormality of the fifth metatarsal bone, Abnormal metatarsal epiphysis morphology, Structural fo... ORPHA:564003
Schnitzler Syndrome
Leukocytosis, Splenomegaly, Hepatomegaly, Lymphadenopathy, Arthritis, Anemia, Increased bone mine... ORPHA:37748
Ghosal Hematodiaphyseal Dysplasia
Craniofacial hyperostosis, Abnormal pelvic girdle bone morphology, Abnormal tibia morphology, Abn... ORPHA:1802
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Decreased helper T cell proportion, Pancytopenia, Splenomegaly, Hypersplenism OMIM:183350
X-Linked Sideroblastic Anemia And Spinocerebellar Ataxia
Anemia, Intrauterine growth retardation, Ataxia ORPHA:2802
T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy
T lymphocytopenia, Decreased helper T cell proportion OMIM:601705
Immunodeficiency 18
Reduced natural killer cell count, Recurrent pneumonia, Recurrent otitis media, Lymphopenia, Abno... OMIM:615615
Immunodeficiency 115 With Autoinflammation
Decreased circulating IgG level, Eczematoid dermatitis, Intestinal lymphangiectasia, Postnatal gr... OMIM:620632
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant
Abnormally low T cell receptor excision circle level, T lymphocytopenia OMIM:618806
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Diarrhea, Recurrent otitis media, Decreased CD4:CD8 ratio, Splenomegaly, Autoimmune hemolytic ane... OMIM:618495
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Recurrent pneumonia, Abnormal CD4:CD8 ratio, Diarrhea, Recurrent aphthous stomatitis, Splenomegal... OMIM:150550
Combined Immunodeficiency, X-Linked
Pneumonia, Decreased circulating IgG level, Abnormal T cell count, Decreased proportion of CD8-po... OMIM:312863
Immunodeficiency 109 With Lymphoproliferation
Decreased circulating IgG level, Decreased specific pneumococcal antibody level, Pancytopenia, Co... OMIM:620282
Immunodeficiency 64 With Lymphoproliferation
Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased circulating IgG level... OMIM:618534
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Extramedullary hematopoiesis, Leukopenia, Splenomegaly, Increased circulating antibody level, Hep... OMIM:615285
Immunodeficiency 97 With Autoinflammation
Diarrhea, Hemophagocytosis, Decreased proportion of CD8-positive T cells, Lymphopenia, Hepatosple... OMIM:619802
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive
Anemia, Leukocytosis, Ulcerative colitis, Bloody diarrhea OMIM:619398
Mueller-Weiss Syndrome
Tibiofibular diastasis, Equinovarus deformity, Tibial torsion, Abnormality of the os naviculare p... ORPHA:566943
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 4
Agammaglobulinemia, Abnormal B cell morphology, Decreased circulating antibody level, Epicanthus OMIM:616911
Agammaglobulinemia 8B, Autosomal Recessive
Decreased circulating IgG level, Recurrent pneumonia, Partial absence of specific antibody respon... OMIM:619824
Agammaglobulinemia 3, Autosomal Recessive
Diarrhea, Recurrent otitis media, Agammaglobulinemia, Absent circulating B cells, Neutropenia, Ab... OMIM:613501
Reticular Dysgenesis
Diarrhea, Aplasia/Hypoplasia of the thymus, Leukopenia, Malabsorption, Skin rash, Anemia, Abnorma... ORPHA:33355
Ghosal Hematodiaphyseal Dysplasia
Bone marrow hypocellularity, Hyperostosis cranialis interna, Leukopenia, Thrombocytopenia, Myelof... OMIM:231095
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias
Decreased proportion of CD4+CD25+ regulatory T cells, Lymphopenia, Follicular hyperplasia, Decrea... OMIM:619846
Transient Erythroblastopenia Of Childhood
Anemia, Transient erythroblastopenia OMIM:227050
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Abnormally low T cell receptor excision circle level, Pneumonia, Panhypogammaglobulinemia, Increa... OMIM:602450
Isolated Agammaglobulinemia
Pneumonia, Diarrhea, Abnormal lymphocyte morphology, Malabsorption, Otitis media, Skin rash, Abno... ORPHA:229717
Lymphoproliferative Syndrome, X-Linked, 1
Decreased circulating IgG level, Abnormal T cell count, Hepatic failure, Aplastic anemia, Hemopha... OMIM:308240
Immunodeficiency 102
Decreased proportion of CD4-positive helper T cells, Hepatomegaly, Recurrent skin infections, Aut... OMIM:301082
Immunodeficiency, Common Variable, 3
Abnormal T cell count, Chronic decreased circulating total IgG, Recurrent otitis media, Decreased... OMIM:613493
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)
T lymphocytopenia DECIPHER:16
Familial Hemophagocytic Lymphohistiocytosis
Hemophagocytosis, Erythroderma, Neutropenia, Reduced natural killer cell activity, Hepatomegaly, ... ORPHA:540
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive
Pneumonia, Diarrhea, Panhypogammaglobulinemia, Otitis media, Purulent rhinitis, Arthritis, B lymp... OMIM:601457
Majeed Syndrome
Failure to thrive, Osteomyelitis, Malabsorption, Leukocytosis, Splenomegaly, Increased susceptibi... ORPHA:77297
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Anemia, Splenomegaly, Persistence of hemoglobin F ORPHA:46532
Agammaglobulinemia 6, Autosomal Recessive
Decreased circulating IgG level, Recurrent pneumonia, Diarrhea, Recurrent otitis media, Decreased... OMIM:612692
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Decreased specific anti-polysaccharide antibody level, Recurrent otitis media, Decreased CD4:CD8 ... OMIM:300853
Intermediate Osteopetrosis
Erlenmeyer flask deformity of the femurs, Cortical sclerosis, Osteomyelitis, Hepatosplenomegaly, ... ORPHA:210110
Activated Pi3K-Delta Syndrome
Pneumonia, Recurrent tonsillitis, Recurrent otitis media, Decreased circulating antibody level, S... ORPHA:397596
Neutrophilia, Hereditary
Splenomegaly, Neutrophilia OMIM:162830
Immunodeficiency, Common Variable, 11
Decreased circulating IgG level, Abnormal T cell count, Inflammation of the large intestine, Muco... OMIM:615767
Alpha-Thalassemia
Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia OMIM:604131
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Diarrhea, Lymphopenia, Lymph node hypoplasia, Decreased proportion of CD4-positive helper T cells... ORPHA:276
Alpha-Heavy Chain Disease
Ascites, Malabsorption, Splenomegaly, Hepatomegaly, Dysgammaglobulinemia, Lymphadenopathy, Anemia... ORPHA:100025
Beta-Thalassemia
Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia OMIM:613985
Diamond-Blackfan Anemia 17
Anemia OMIM:617409
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Lymphopenia, Metaphyseal chondrodysplasia, Hypoplasia of the thymus OMIM:200900
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Atrophic gastritis, Decreased circulating IgG level, Diarrhea, Eczematoid dermatitis, Lymphopenia... OMIM:616100
Osteopetrosis, Autosomal Recessive 1
Failure to thrive, Flared metaphysis, Pathologic fracture, Osteomyelitis, Pancytopenia, Splenomeg... OMIM:259700
Immunodeficiency 36 With Lymphoproliferation
Decreased circulating IgG level, Growth delay, Lymphopenia, Decreased circulating IgA level, Sple... OMIM:616005
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Pneumonia, Decreased circulating IgG level, Recurrent pneumonia, Diarrhea, Hepatitis, Protracted ... ORPHA:169160
Immunodeficiency 98 With Autoinflammation, X-Linked
Bone marrow hypocellularity, Decreased circulating IgG level, Hemophagocytosis, Agranulocytosis, ... OMIM:301078
Severe Combined Immunodeficiency, X-Linked
Pneumonia, Decreased circulating IgG level, Recurrent pneumonia, Decreased circulating IgE, Reduc... OMIM:300400
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency
Inflammation of the large intestine, Diarrhea, Psoriasiform dermatitis, Hepatomegaly, Autoimmune ... ORPHA:436159
Reticuloendotheliosis, X-Linked
Anemia, Jaundice, Hepatosplenomegaly, Lymphadenopathy OMIM:312500
Albers-Schönberg Osteopetrosis
Short distal phalanx of finger, Mandibular osteomyelitis, Abnormal epiphysis morphology, Osteomye... ORPHA:53
Persistent Polyclonal B-Cell Lymphocytosis
Hepatomegaly, Lymphocytosis, Splenomegaly, Decreased circulating total IgM OMIM:606445
Osteopetrosis, Autosomal Recessive 4
Splenomegaly, Reticulocytosis, Anemia, Osteopetrosis, Thrombocytopenia, Hepatomegaly, Increased b... OMIM:611490
Ras-Associated Autoimmune Leukoproliferative Disorder
Pancytopenia, Splenomegaly, Follicular hyperplasia, Increased circulating antibody level, Hepatom... OMIM:614470
Agammaglobulinemia 8A, Autosomal Dominant
B lymphocytopenia OMIM:616941
Immunodeficiency 114, Folate-Responsive
Atopic dermatitis, Decreased circulating IgG level, Increased circulating IgE level, Lymphopenia,... OMIM:620603
Immunodeficiency 13
Lymphopenia, Decreased CD4:CD8 ratio, Decreased proportion of CD4-positive helper T cells, B lymp... OMIM:615518
Immunodeficiency, Common Variable, 8, With Autoimmunity
Inflammation of the large intestine, Recurrent otitis media, Pancytopenia, Erythema nodosum, Auto... OMIM:614700
Hemophagocytic Lymphohistiocytosis, Familial, 4
Hemophagocytosis, Splenomegaly, Skin rash, Hepatomegaly, Jaundice, Lymphadenopathy, Thrombocytope... OMIM:603552
Autoimmune Disease, Multisystem, Infantile-Onset, 3
Decreased specific pneumococcal antibody level, Abnormal T cell count, Decreased circulating IgG ... OMIM:620430
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Fluctuating splenomegaly, Recurrent otitis media, Autoimmune hemolytic anemia, Lymphadenopathy, N... OMIM:619220
Ataxia-Pancytopenia Syndrome
Ataxia, Acute myelomonocytic leukemia, Pancytopenia, Abnormal macrophage morphology, Splenomegaly... ORPHA:2585
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Osteopenia, Erlenmeyer flask deformity of the femurs, Hypersplenism, Splenomegaly, Hepatomegaly, ... OMIM:610539
Immunodeficiency 68
Lymphadenitis, Abscess, B lymphocytopenia, Septic arthritis, Abnormal natural killer cell count, ... OMIM:612260
Lymphoproliferative Syndrome 3
Reduced natural killer cell count, Hepatosplenomegaly, Lymphadenopathy OMIM:618261
Immunodeficiency 14B, Autosomal Recessive
Neutrophilia, Decreased circulating IgG level, Inflammation of the large intestine, Recurrent pne... OMIM:619281
Autoimmune Lymphoproliferative Syndrome
Increased circulating IgE level, Lymphopenia, Hypersplenism, Decreased proportion of CD4-positive... ORPHA:3261
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Decreased circulating IgG level, Abnormal T cell count, Lymphadenitis, Protracted diarrhea, Lymph... ORPHA:331206
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Hemophagocytosis, Hepatosplenomegaly, Splenomegaly, Recurrent sinusitis, Abnormal natural killer ... OMIM:613101
Omenn Syndrome
Pneumonia, Diarrhea, Splenomegaly, Hypoplasia of the thymus, Eosinophilia, Anemia, Erythroderma, ... OMIM:603554
Trichothiodystrophy 6, Nonphotosensitive
Coronal craniosynostosis, Broad-based gait, Pes cavus, Increased HbA2 hemoglobin, Increased bone ... OMIM:616943
Immunodeficiency 7
Diarrhea, Recurrent otitis media, Hypereosinophilia, Splenomegaly, Autoimmune hemolytic anemia, L... OMIM:615387
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Decreased proportion of memory B cells, Diarrhea, Hepatosplenomegaly, Pancytopenia, Abnormal circ... ORPHA:79124
Osteosclerotic Metaphyseal Dysplasia
Failure to thrive, Dense metaphyseal bands, Clavicular sclerosis, Metaphyseal dysplasia, Increase... OMIM:615198
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency
Splenomegaly, Decreased proportion of class-switched memory B cells, Coombs-positive hemolytic an... OMIM:619375
Trimethylaminuria
Anemia, Recurrent pneumonia, Splenomegaly, Neutropenia OMIM:602079
Hyper-Ige Syndrome 5, Autosomal Recessive, With Recurrent Infections
Atopic dermatitis, Decreased circulating IgG level, Cutaneous abscess, Recurrent otitis media, In... OMIM:618944
Folate Malabsorption, Hereditary
Ataxia, Diarrhea, Failure to thrive, Leukopenia, Folate-responsive megaloblastic anemia, Malabsor... OMIM:229050
Combined Immunodeficiency Due To Partial Rag1 Deficiency
Splenomegaly, Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil antibodies, ... ORPHA:231154
Isolated Osteopoikilosis
Sclerotic foci within carpal bones, Tarsal sclerosis, Keloids, Abnormal pelvis bone ossification,... ORPHA:166119
Immunodeficiency 57 With Autoinflammation
Inflammation of the large intestine, Reduced natural killer cell count, Diarrhea, Partial absence... OMIM:618108
Mantle Cell Lymphoma
Weight loss, Splenomegaly, Lymphadenopathy ORPHA:52416
Osteopetrosis, Autosomal Recessive 8
Failure to thrive, Splenomegaly, Hepatomegaly, Osteopetrosis, Thrombocytopenia, Anemia, Feeding d... OMIM:615085
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Abnormally low T cell receptor excision circle level, Cellulitis, Lymphadenitis, Lymphopenia, Hep... OMIM:618986
Aggressive Systemic Mastocytosis
Diarrhea, Hepatosplenomegaly, Pancytopenia, Hypersplenism, Weight loss, Neutropenia, Anorexia, Le... ORPHA:98850
Autoinflammation With Infantile Enterocolitis
Reduced natural killer cell count, Secretory diarrhea, Reduced natural killer cell activity, Panc... OMIM:616050
Glycoprotein Storage Disease
Gout, Splenomegaly OMIM:232900
Immunodeficiency 60 And Autoimmunity
Decreased proportion of memory B cells, Decreased circulating IgG level, Bronchiectasis, Pancytop... OMIM:618394
Immunodeficiency 21
Reduced natural killer cell count, Aplastic anemia, Lymphopenia, Osteomyelitis, Anemia, Neutropen... OMIM:614172
Lymphoproliferative Syndrome, X-Linked, 2
Inflammation of the large intestine, Folliculitis, Aplastic anemia, Hemophagocytosis, Hepatitis, ... OMIM:300635
Proteasome-Associated Autoinflammatory Syndrome 2
Decreased proportion of memory B cells, Failure to thrive, Clinodactyly, Lipodystrophy, Lymphaden... OMIM:618048
Immunodeficiency 62
Decreased proportion of memory B cells, Autoimmune thrombocytopenia, Increased proportion of tran... OMIM:618459
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2
Pneumonia, Decreased circulating IgG level, Diarrhea, Decreased circulating IgA level, Epicanthus... OMIM:614069
Burkitt Lymphoma
Abnormal lymph node morphology, Abnormality of the ovary, Abnormality of the spleen, Abnormality ... ORPHA:543
Diamond-Blackfan Anemia 3
Increased mean corpuscular volume, Elevated red cell adenosine deaminase activity, Persistence of... OMIM:610629
Immunodeficiency 46
Intermittent thrombocytopenia, Decreased circulating antibody level, Neutropenia, Anemia, Conjunc... OMIM:616740
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Inflammatory abnormality of the skin, Diarrhea, Increased circulating IgE level, Lymphopenia, Apl... OMIM:102700
Congenital Toxoplasmosis
Diarrhea, Ascites, Intrauterine growth retardation, Cardiomegaly, Hepatomegaly, Lymphadenopathy, ... ORPHA:858
Cyanosis, Transient Neonatal
Anemia, Methemoglobinemia, Reticulocytosis OMIM:613977
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome
Decreased proportion of CD8-positive T cells, Failure to thrive in infancy, Decreased proportion ... OMIM:617241
Wiskott-Aldrich Syndrome 2
Decreased proportion of CD8-positive T cells, Thrombocytopenia OMIM:614493
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Decreased proportion of CD4+CD25+ regulatory T cells, Decreased specific anti-polysaccharide anti... OMIM:606367
Leukocyte Adhesion Deficiency, Type Iii
Extramedullary hematopoiesis, Abnormal lymph node morphology, Hepatosplenomegaly, Leukocytosis, S... OMIM:612840
Agammaglobulinemia, X-Linked
Recurrent otitis media, Lymph node hypoplasia, Prostatitis, Neutropenia, Epididymitis, Pyoderma, ... OMIM:300755
Autoinflammatory Disease, Systemic, With Vasculitis
Diarrhea, Cholestasis, Hepatosplenomegaly, Abnormal circulating IgG level, Hepatomegaly, Jaundice... OMIM:620376
Immunodeficiency 85 And Autoimmunity
Decreased proportion of memory B cells, Reduced natural killer cell count, Vomiting, Decreased ci... OMIM:619510
Neutropenia, Severe Congenital, 2, Autosomal Dominant
B lymphocytopenia, Neutropenia, Monocytosis OMIM:613107
Osteopetrosis, Autosomal Recessive 2
Mandibular osteomyelitis, Extramedullary hematopoiesis, Cranial hyperostosis, Osteomyelitis, Hepa... OMIM:259710
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Increased circulating IgG level, Decreased proportion of CD8-positive T cells, Lymphopenia, Hepat... ORPHA:169154
Osteopetrosis, Autosomal Recessive 5
Hepatic failure, Stillbirth, Extramedullary hematopoiesis, Flared metaphysis, Cranial hyperostosi... OMIM:259720
Sclerosteosis
Craniofacial hyperostosis, Finger syndactyly, Curved distal phalanges of the hand, Abnormal corti... ORPHA:3152
Boutonneuse Fever
Diarrhea, Cervical lymphadenopathy, Leukopenia, Skin rash, Nausea, Lymphadenopathy, Thrombocytope... ORPHA:83313
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia
Decreased circulating IgG level, Lymphopenia, Leukopenia, Postnatal growth retardation, Splenomeg... OMIM:620210
Congenital Amegakaryocytic Thrombocytopenia
Anemia, Abnormal hemoglobin, Thrombocytopenia ORPHA:3319
Hyperparathyroidism, Transient Neonatal
Osteopenia, Fractured rib, Hyperparathyroidism, Gastroesophageal reflux, Metaphyseal spurs, Umbil... OMIM:618188
Tularemia
Pneumonia, Brain abscess, Cutaneous abscess, Cervical lymphadenopathy, Abnormal nasopharyngeal ad... ORPHA:3392
Niemann-Pick Disease, Type A
Vomiting, Athetosis, Failure to thrive, Sea-blue histiocytosis, Microcytic anemia, Inability to w... OMIM:257200
Immunodeficiency, Common Variable, 13
Pancytopenia, Acute lymphoblastic leukemia, B lymphocytopenia OMIM:616873
Immunodeficiency, Common Variable, 6
Decreased specific pneumococcal antibody level, Abnormal T cell count, Chronic decreased circulat... OMIM:613496
Mevalonic Aciduria
Progressive cerebellar ataxia, Diarrhea, Vomiting, Fluctuating splenomegaly, Downslanted palpebra... OMIM:610377
Combined Immunodeficiency Due To Zap70 Deficiency
Pneumonia, Lymphadenitis, Chronic mucocutaneous candidiasis, Abnormal lymph node morphology, Decr... ORPHA:911
Squamous Cell Carcinoma Of The Esophagus
Clinodactyly of the 5th toe, Feeding difficulties in infancy, Nausea and vomiting, Lymphadenopathy ORPHA:99977
Buschke-Ollendorff Syndrome
Lower limb asymmetry, Joint stiffness, Connective tissue nevi, Osteopoikilosis, Flexion contracture OMIM:166700
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase
Abdominal pain, Recurrent pancreatitis, Splenomegaly OMIM:118830
Omenn Syndrome
Pneumonia, Abnormal lymphocyte morphology, Leukocytosis, Splenomegaly, Hepatomegaly, Eosinophilia... ORPHA:39041
Leukodystrophy, Hypomyelinating, 24
Flexion contracture, B lymphocytopenia OMIM:619851
Hemophagocytic Lymphohistiocytosis, Familial, 3
Hemophagocytosis, Reduced natural killer cell activity, Hepatosplenomegaly, Anemia, Granulocytopenia OMIM:608898
Immunodeficiency With Hyper-Igm, Type 1
Diarrhea, Enteroviral encephalitis, Cirrhosis, Increased circulating IgA level, Neutropenia, Hepa... OMIM:308230
Familial Cold Autoinflammatory Syndrome 2
Recurrent aphthous stomatitis, Leukocytosis, Skin rash, Splenomegaly, Lymphadenopathy, Arthritis,... OMIM:611762
Coproporphyria, Hereditary
Diarrhea, Vomiting, Splenomegaly, Abdominal pain, Constipation, Hepatomegaly, Jaundice OMIM:121300
Infantile Sialic Acid Storage Disease
Osteopenia, Failure to thrive, Abnormal foot morphology, Ascites, Splenomegaly, Cardiomegaly, Hep... OMIM:269920
Autoinflammatory-Pancytopenia Syndrome
Cholestatic liver disease, Hepatic fibrosis, Granuloma, Hemophagocytosis, Hepatosplenomegaly, Pan... OMIM:619858
Agammaglobulinemia 2, Autosomal Recessive
Recurrent pneumonia, Recurrent otitis media, Decreased circulating IgA level, Agammaglobulinemia,... OMIM:613500
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Anorexia, Nausea and vomiting, Splenomegaly, Hepatomegaly, Lethargy, Pancreatitis, Thrombocytopen... ORPHA:79312
Good Syndrome
Thymoma, Diarrhea, Aplasia/Hypoplasia of the thymus, Decreased circulating antibody level, Abnorm... ORPHA:169105
Immunodeficiency 15B
Reduced natural killer cell count, Chronic diarrhea, Agammaglobulinemia, Monocytosis, Decreased c... OMIM:615592
Ivic Syndrome
Absent thumb, Short 1st metacarpal, Short thumb, Carpal synostosis, Preaxial polydactyly, Upper l... OMIM:147750
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Reduced natural killer cell count, Hypoplasia of the thymus, Impaired lymphocyte transformation w... OMIM:619313
Niemann-Pick Disease, Type B
Sea-blue histiocytosis, Splenomegaly, Hepatomegaly, Thrombocytopenia, Anemia, Bone-marrow foam ce... OMIM:607616
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency
Atopic dermatitis, Decreased proportion of memory B cells, Decreased specific anti-polysaccharide... ORPHA:70593
Immunodeficiency 70
Decreased circulating total IgG, Decreased proportion of CD4-positive helper T cells, Recurrent s... OMIM:618969
Congenital Atransferrinemia
Anemia, Hypothyroidism, Abnormality of the pancreas, Arthritis ORPHA:1195
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Eczematoid dermatitis, Hepatitis, Increased circulating IgE level, Decreased FOXP3-expressing T c... OMIM:304790
Specific Granule Deficiency 2
Osteopenia, Intractable diarrhea, Sandal gap, Failure to thrive, Absent neutrophil specific granu... OMIM:617475
Metaphyseal Dysplasia, Braun-Tinschert Type
Radial bowing, Sclerosis of middle finger phalanx, Broad long bones, Humerus varus, Fibular bowin... ORPHA:85188
Eiken Syndrome
Abnormal fingertip morphology, Epiphyseal dysplasia, Delayed epiphyseal ossification, High iliac ... ORPHA:79106
Leishmaniasis
Pancytopenia, Leukopenia, Splenomegaly, Abnormal macrophage morphology, Increased circulating ant... ORPHA:507
Autoinflammation With Episodic Fever And Lymphadenopathy
Recurrent tonsillitis, Microcytic anemia, Splenomegaly, Lymphadenopathy, Hepatomegaly, Abdominal ... OMIM:618852
Rhizomelic Chondrodysplasia Punctata, Type 3
Rhizomelia, Failure to thrive, Epiphyseal stippling, Short humerus, Short femur OMIM:600121
Immunodeficiency By Defective Expression Of Mhc Class Ii
Abnormal CD4:CD8 ratio, Diarrhea, Protracted diarrhea, Pancytopenia, Decreased proportion of CD4-... ORPHA:572
Reticular Dysgenesis
Lymphopenia, Leukopenia, Congenital agranulocytosis, Hypoplasia of the thymus OMIM:267500
Osteopetrosis, Autosomal Recessive 9
Hyperparathyroidism, Cortical sclerosis, Pathologic fracture, Osteopetrosis, Anemia, Increased bo... OMIM:620366
X-Linked Agammaglobulinemia
Recurrent pneumonia, Hepatitis, Conjunctivitis, Osteomyelitis, Malabsorption, Skin rash, Abnormal... ORPHA:47
Autoimmune Lymphoproliferative Syndrome
Reduced delayed hypersensitivity, Chronic noninfectious lymphadenopathy, Autoimmune hemolytic ane... OMIM:601859
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis
Decreased proportion of CD8-positive T cells, Decreased proportion of CD4-positive helper T cells... OMIM:611926
Melorheostosis With Osteopoikilosis
Osteopoikilosis, Abnormal cortical bone morphology, Complete duplication of the distal phalanges ... ORPHA:1879
Lymphoproliferative Syndrome 1
Decreased circulating IgG level, Hemophagocytosis, Pancytopenia, Leukopenia, Decreased proportion... OMIM:613011
Camurati-Engelmann Disease
Bone marrow hypocellularity, Slender build, Sclerosis of skull base, Genu valgum, Reduced subcuta... OMIM:131300
Bone Dysplasia, Lethal Holmgren Type
Rhizomelia, Diarrhea, Abnormal epiphysis morphology, Micromelia, Abnormal diaphysis morphology, F... ORPHA:1842
Hypocalcemic Vitamin D-Dependent Rickets
Delayed epiphyseal ossification, Hypochromic anemia, Osteomalacia, Difficulty walking, Hepatomega... ORPHA:289157
Rosaï-Dorfman Disease
Anemia, Lymphadenopathy, Osteolysis ORPHA:158014
Anemia, Congenital Dyserythropoietic, Type Ib
Growth delay, Erythroid hyperplasia, Splenomegaly, Anemia of inadequate production, Anisocytosis,... OMIM:615631
Polycythemia Vera
Gastrointestinal hemorrhage, Increased hematocrit, Leukocytosis, Splenomegaly, Increased red bloo... OMIM:263300
Autoinflammation, Panniculitis, And Dermatosis Syndrome
Diarrhea, Leukocytosis, Skin rash, Chronic diarrhea, Increased proportion of CD4-positive T cells... OMIM:617099
Autosomal Dominant Severe Congenital Neutropenia
Cellulitis, Osteopenia, Diarrhea, Aplastic anemia, Lymphopenia, Recurrent aphthous stomatitis, Re... ORPHA:486
Immunodeficiency 92
Pneumonia, Decreased circulating IgG level, Partial absence of specific antibody response to teta... OMIM:619652
Acquired Idiopathic Sideroblastic Anemia
Normocytic anemia, Bone marrow hypocellularity, Megaloblastic erythroid hyperplasia, Hypochromic ... ORPHA:75564
Ebola Hemorrhagic Fever
Gastrointestinal hemorrhage, Diarrhea, Vomiting, Hepatitis, Lymphopenia, Leukopenia, Increased ci... ORPHA:319218
Bone Marrow Failure Syndrome 4
Bone marrow hypocellularity, Rhizomelia, Eczematoid dermatitis, Leukopenia, Thrombocytopenia, Ane... OMIM:618116
Roifman Syndrome
Epiphyseal dysplasia, Short toe, Hepatosplenomegaly, Hip contracture, Eosinophilia, Broad femoral... ORPHA:353298
Immunodeficiency 116
Absence of CD8-positive T cells OMIM:608957
Diffuse Cutaneous Mastocytosis
Gastrointestinal hemorrhage, Diarrhea, Vomiting, Malnutrition, Abnormality of the spleen, Abnorma... ORPHA:79456
Immunodeficiency 32B
Pneumonia, Impaired oxidative burst, Abnormal circulating IgG level, Splenomegaly, Sinusitis, Eos... OMIM:226990
Neutropenia, Severe Congenital, 9, Autosomal Dominant
Splenomegaly OMIM:619813
Hyper-Igd Syndrome
Diarrhea, Lymphadenitis, Vomiting, Hepatosplenomegaly, Leukocytosis, Splenomegaly, Skin rash, Inc... OMIM:260920
Erythroleukemia, Familial, Susceptibility To
Erythroid hyperplasia, Splenomegaly, Hepatomegaly, Anemia, Acute myeloid leukemia, Thrombocytopen... OMIM:133180
Myalgia-Eosinophilia Syndrome Associated With Tryptophan
Lymphopenia, Eosinophilia, Limitation of joint mobility, Arthritis ORPHA:2582
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism
Jaundice, Splenomegaly, Nonspherocytic hemolytic anemia OMIM:206400
Classic Galactosemia
Hepatic failure, Diarrhea, Vomiting, Ascites, Postural tremor, Gait imbalance, Cryptorchidism, Ac... ORPHA:79239
Purine Nucleoside Phosphorylase Deficiency
Pneumonia, Ataxia, Impaired T cell function, Lymphopenia, Lymph node hypoplasia, Abnormality of B... OMIM:613179
Acromesomelic Dysplasia 2A
Acromesomelia, Short tibia, Stillbirth, Aplasia/Hypoplasia involving the metacarpal bones, Distal... OMIM:200700
Cold Agglutinin Disease
Diarrhea, Nausea and vomiting, Splenomegaly, Lymphadenopathy, Hepatomegaly, Hemolytic anemia ORPHA:56425
Agammaglobulinemia 10, Autosomal Dominant
Decreased circulating IgG level, Decreased circulating IgA level, Transient neutropenia, Recurren... OMIM:619707
Proteasome-Associated Autoinflammatory Syndrome 5
Skin rash, Hepatomegaly, Splenomegaly OMIM:619175
Epidermodysplasia Verruciformis, Susceptibility To, 5
Lymphopenia, T lymphocytopenia OMIM:618309
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Acute pancreatitis, Recurrent pneumonia, Recurrent tonsillitis, Granuloma, Lymphadenitis, Eczemat... OMIM:618935
Endosteal Hyperostosis, Worth Type
Craniofacial hyperostosis, Abnormal cortical bone morphology, Generalized osteosclerosis, Clavicu... ORPHA:2790
Diastrophic Dysplasia
Ulnar deviation of finger, Hypoplastic cervical vertebrae, Abnormal epiphysis morphology, Microme... ORPHA:628
Cholesteryl Ester Storage Disease
Hepatic bridging fibrosis, Diarrhea, Acute hepatic failure, Hepatosplenomegaly, Hypersplenism, He... OMIM:278000
Immunodeficiency, Common Variable, 7
Decreased specific pneumococcal antibody level, Decreased circulating total IgG, Reduced isohemag... OMIM:614699
Hyperostosis Corticalis Generalisata
Generalized osteosclerosis, Abnormal cortical bone morphology, Cranial hyperostosis, Diaphyseal u... ORPHA:3416
Sweet Syndrome
Inflammation of the large intestine, Abnormal circulating interleukin concentration, Increased ci... ORPHA:3243
Immunodeficiency 54
Reduced natural killer cell count, Postnatal growth retardation, Adrenal insufficiency, Intrauter... OMIM:609981
Classic Mycosis Fungoides
Eczematoid dermatitis, Abnormal lymphocyte morphology, Skin rash, Splenomegaly, Abnormal eyelid m... ORPHA:2584
Combined Immunodeficiency Due To Dock8 Deficiency
T lymphocytopenia, B lymphocytopenia ORPHA:217390
Immunodeficiency 93 And Hypertrophic Cardiomyopathy
Decreased circulating IgG level, Broad-based gait, Crohn's disease, Agammaglobulinemia, Absent ci... OMIM:619705
Lipodystrophy-Intellectual Disability-Deafness Syndrome
Osteopenia, Failure to thrive, Dense metaphyseal bands, Slender build, Generalized lipodystrophy,... ORPHA:50811
Hyperbilirubinemia, Shunt, Primary
Erythroid hyperplasia, Splenomegaly, Anemia of inadequate production, Reticulocytosis, Hepatomega... OMIM:237800
Lymphoproliferative Syndrome 2
Recurrent pneumonia, Aplastic anemia, Hemophagocytosis, Ascites, Hepatosplenomegaly, Pancytopenia... OMIM:615122
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Diarrhea, Brain abscess, Abnormal lymph node morphology, Abnormality of the lymphatic system, Neu... ORPHA:54251
Autoinflammatory Disease, Systemic, X-Linked
Decreased circulating IgG level, Panuveitis, Osteomyelitis, Hepatosplenomegaly, Decreased circula... OMIM:301081
Cog7-Cdg
Diarrhea, Failure to thrive, Hepatosplenomegaly, Micrognathia, Hepatomegaly, Adducted thumb, Long... ORPHA:79333
Poems Syndrome
Visceromegaly, Polycythemia, Increased circulating prolactin concentration, Sclerosis of hand bon... ORPHA:2905
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome
Splenic infarction, Persistence of hemoglobin F, Increased red cell sickling tendency, Reticulocy... ORPHA:251380
Autosomal Agammaglobulinemia
Bronchiectasis, Diarrhea, Hepatitis, Osteomyelitis, Malabsorption, Skin rash, Agammaglobulinemia,... ORPHA:33110
Typhoid
Gastrointestinal hemorrhage, Diarrhea, Skin rash, Splenomegaly, Infectious encephalitis, Lethargy... ORPHA:99745
Osteopetrosis, Autosomal Dominant 2
Bone marrow hypocellularity, Abnormal pelvic girdle bone morphology, Mandibular osteomyelitis, Hi... OMIM:166600
Dominant Beta-Thalassemia
Diarrhea, Reduced hemoglobin A, Extramedullary hematopoiesis, Persistence of hemoglobin F, Hypopi... ORPHA:231226
Immunodeficiency 16
Pancytopenia, Coombs-positive hemolytic anemia, Splenomegaly OMIM:615593
Proteus Syndrome
Mandibular hyperostosis, Cerebriform connective tissue nevus, Hypertrophy of skin of soles, Facia... OMIM:176920
Immunodeficiency 11B With Atopic Dermatitis
Pneumonia, Atopic dermatitis, Bronchiectasis, Increased circulating IgE level, Colonic eosinophil... OMIM:617638
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Osteopenia, Flared metaphysis, Decreased fibular diameter, Ascites, Micrognathia, Short ribs, Dec... OMIM:616897
Legionnaires Disease
Bone marrow hypocellularity, Diarrhea, Hepatitis, Anorexia, Lymphopenia, Nausea and vomiting, Spl... ORPHA:549
Classic Hodgkin Lymphoma
Bone marrow hypocellularity, Anorexia, Splenomegaly, Weight loss, Lymphadenopathy, Ataxia, Hepato... ORPHA:391
Flynn-Aird Syndrome
Joint stiffness, Increased bone density with cystic changes, Ataxia, Osteoporosis, Increased bone... OMIM:136300
Wolman Disease
Hepatic failure, Malnutrition, Ascites, Adrenal insufficiency, Nausea and vomiting, Splenomegaly,... ORPHA:75233
Roifman Syndrome
Recurrent pneumonia, Prominent eyelashes, Eczematoid dermatitis, Downslanted palpebral fissures, ... OMIM:616651
Kerion Celsi
Recurrent cutaneous abscess formation, Lymphadenopathy ORPHA:499
Immunodeficiency 55
Diarrhea, Absent natural killer cells, Eczematoid dermatitis, Lymphopenia, Intrauterine growth re... OMIM:617827
T-Cell Immunodeficiency With Thymic Aplasia
Abnormally low T cell receptor excision circle level, Failure to thrive, Lymphopenia, Hepatosplen... OMIM:242700
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Reduced natural killer cell count, Hepatic failure, Abnormal circulating interleukin concentratio... ORPHA:158057
Eosinophilic Gastroenteritis
Allergic rhinitis, Atopic dermatitis, Hematochezia, Diarrhea, Vomiting, Ascites, Malabsorption, L... ORPHA:2070
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Diarrhea, Vomiting, Intestinal lymphangiectasia, Ascites, Malabsorption, Intestinal obstruction, ... OMIM:226300
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis
Lymphopenia, Autoimmune hemolytic anemia, Plasmacytosis OMIM:247800
Cinca Syndrome
Hepatosplenomegaly, Leukocytosis, Skin rash, Eosinophilia, Lymphadenopathy, Arthritis, Anemia, Gr... OMIM:607115
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia
Pneumonia, Abnormal T cell count, Diarrhea, Panhypogammaglobulinemia, Recurrent otitis media, Pyo... OMIM:307200
Otopalatodigital Syndrome Type 1
Short distal phalanx of finger, Synostosis of carpal bones, Short thumb, Sandal gap, Limitation o... ORPHA:90650
Immune Dysregulation, Autoimmunity, And Autoinflammation
Increased circulating interleukin 8 concentration, Increased circulating interleukin 6 concentrat... OMIM:620514
Indolent Systemic Mastocytosis
Mastocytosis, Increased proportion of CD25+ mast cells, Skin rash, Splenomegaly, Lymphadenopathy,... ORPHA:98848
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Gastroesophageal reflux, Abnormal posturing, Failure to thrive, Feeding difficulties, Micrognathi... OMIM:614857
Progeria-Short Stature-Pigmented Nevi Syndrome
Short distal phalanx of finger, Broad-based gait, Osteopenia, Small for gestational age, Gastroes... ORPHA:2959
Griscelli Syndrome
Bone marrow hypocellularity, Hepatitis, Ascites, Abnormal eyebrow morphology, Leukopenia, Splenom... ORPHA:381
Babesiosis
Hepatic failure, Limitation of joint mobility, Leukopenia, Nausea and vomiting, Splenomegaly, Cli... ORPHA:108
Pyknoachondrogenesis
Increased bone mineral density, Stillbirth OMIM:265880
Immunodeficiency 38 With Basal Ganglia Calcification
Axillary lymphadenopathy, Inguinal lymphadenopathy, Lymphadenopathy OMIM:616126
Cinca Syndrome
Leukocytosis, Splenomegaly, Nausea and vomiting, Hepatomegaly, Brachydactyly, Lymphadenopathy, An... ORPHA:1451
Glut1 Deficiency Syndrome 2
Splenomegaly, Reticulocytosis, Ataxia, Hemolytic anemia, Choreoathetosis OMIM:612126
Immunodeficiency, Common Variable, 4
Abnormal T cell count OMIM:613494
Glycogen Storage Disease Ixb
Diarrhea, Growth delay, Splenomegaly, Increased hepatic glycogen content, Hepatomegaly, Short sta... OMIM:261750
Acrocapitofemoral Dysplasia
Short tibia, Radial bowing, Hypoplastic iliac wing, Dysplasia of the femoral head, Cone-shaped ep... OMIM:607778
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency
Decreased circulating IgG level, Recurrent pneumonia, Absent natural killer cells, Lack of T cell... ORPHA:35078
Osteosclerosis-Ichthyosis-Premature Ovarian Failure Syndrome
Increased bone mineral density, Pedal edema ORPHA:75325
Acute Erythroid Leukemia
Bone marrow hypocellularity, Monoclonal immunoglobulin M proteinemia, Pancytopenia, Leukopenia, E... ORPHA:318
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies
Broad middle phalanx of finger, Ataxia, Reduced natural killer cell count, Short distal phalanx o... ORPHA:221139
Erythrocytosis, Familial, 8
Polycythemia, Increased hematocrit, Splenomegaly, Increased circulating hemoglobin concentration,... OMIM:222800
Galactose Epimerase Deficiency
Nausea and vomiting, Splenomegaly, Hepatomegaly, Jaundice, Growth delay, Feeding difficulties ORPHA:79238
Immunodeficiency, Common Variable, 14
Decreased circulating IgG level, Defective B cell differentiation, Decreased circulating IgA leve... OMIM:617765
Hypereosinophilic Syndrome, Idiopathic
Hepatomegaly, Eosinophilia, Myeloproliferative disorder, Splenomegaly OMIM:607685
Immunodeficiency 26 With Or Without Neurologic Abnormalities
Abnormal natural killer cell morphology, Recurrent aphthous stomatitis, Overlapping fingers, B ly... OMIM:615966
Ossification Of The Posterior Longitudinal Ligament Of Spine
Increased bone mineral density, Ectopic ossification OMIM:602475
Gamma-Heavy Chain Disease
Rheumatoid arthritis, Abnormal lymphocyte morphology, Splenomegaly, Autoimmune hemolytic anemia, ... ORPHA:100026
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1
Pneumonia, Reduced natural killer cell count, Diarrhea, Decreased circulating IgA level, Malabsor... OMIM:242860
Hyper-Ige Syndrome 4B, Autosomal Recessive, With Recurrent Infections
Joint contracture of the hand, Eosinophilia, Clubbing, Craniosynostosis, Chronic diarrhea, Hip di... OMIM:618523
Beta-Thalassemia Major
Diarrhea, Reduced hemoglobin A, Extramedullary hematopoiesis, Persistence of hemoglobin F, Hypopi... ORPHA:231214
Pfapa Syndrome
Malabsorption, Nausea and vomiting, Splenomegaly, Infectious encephalitis, Lymphadenopathy, Arthr... ORPHA:42642
Kimura Disease
Eosinophilia, Abnormal salivary gland morphology, Follicular hyperplasia, Lymphadenopathy ORPHA:482
Majeed Syndrome
Inflammatory abnormality of the skin, Microcytic anemia, Osteomyelitis, Hepatosplenomegaly, Eryth... OMIM:609628
Ataxia-Telangiectasia
Lymphopenia, Decreased proportion of CD4-positive helper T cells, Abnormal B cell count, Ataxia, ... OMIM:208900
Progressive Familial Intrahepatic Cholestasis
Failure to thrive, Cholestasis, Malabsorption, Splenomegaly, Hepatomegaly, Jaundice, Reduced bone... ORPHA:172
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2
Decreased proportion of memory B cells, Reduced natural killer cell count, Inflammation of the la... OMIM:301074
Combined Saposin Deficiency
Hepatomegaly, Splenomegaly, Feeding difficulties OMIM:611721
Osteomesopyknosis
Increased bone mineral density OMIM:166450
Sea-Blue Histiocyte Disease
Cirrhosis, Splenomegaly, Thrombocytopenia, Sea-blue histiocytosis OMIM:269600
Heme Oxygenase 1 Deficiency
Nephritis, Increased circulating interleukin 6 concentration, Growth delay, Cervical lymphadenopa... OMIM:614034
Lipodystrophy, Generalized, With Impaired Intellectual Development, Deafness, Short Stature, And Slender Bones
Abnormality of carpal bone ossification, Osteopenia, Failure to thrive, Slender build, Generalize... OMIM:608154
Pycnodysostosis
Coronal craniosynostosis, Small hand, Rhizomelia, Lower limb asymmetry, Acromelia, Short finger, ... ORPHA:763
Immunodeficiency 22
Decreased circulating IgG level, Decreased circulating IgE, Diarrhea, Protracted diarrhea, Ascite... OMIM:615758
Immunodeficiency 31C
Diarrhea, Growth delay, Eczematoid dermatitis, Chronic mucocutaneous candidiasis, Lymphopenia, Os... OMIM:614162
Spondyloepiphyseal Dysplasia Congenita
Aplasia/hypoplasia involving bones of the extremities, Abnormal foot morphology, Upper limb under... ORPHA:94068
Secretory Component Deficiency
Chronic intestinal candidiasis, Intermittent diarrhea, Secretory IgA deficiency OMIM:269650
Immunodeficiency 25
Recurrent pneumonia, Protracted diarrhea, Increased circulating IgE level, Complete or near-compl... OMIM:610163
Homocystinuria-Megaloblastic Anemia, Cblg Complementation Type
Slender finger, Diarrhea, Vomiting, Failure to thrive, Lethargy, Pes planus, Megaloblastic anemia... OMIM:250940
Dentin Dysplasia
Abnormal dental enamel morphology, Increased bone mineral density ORPHA:1653
Spondyloepiphyseal Dysplasia Tarda
Enlarged metaphyses, Hypoplasia of the odontoid process, Finger swelling, Limitation of joint mob... ORPHA:93284
Proteasome-Associated Autoinflammatory Syndrome 3
Failure to thrive, Lymphopenia, Splenomegaly, Anemia, Lipodystrophy, Lymphadenopathy, Thrombocyto... OMIM:617591
Cyclic Neutropenia
Cellulitis, Recurrent tonsillitis, Cervical lymphadenopathy, Lymphopenia, Cyclic neutropenia, Per... ORPHA:2686
Selective Igm Deficiency
Allergic rhinitis, Rheumatoid arthritis, Lymphadenitis, Decreased proportion of CD8-positive T ce... ORPHA:331235
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
Pneumonia, Cutaneous anergy, Absent natural killer cells, Panhypogammaglobulinemia, Recurrent oti... OMIM:600802
Felty Syndrome
Cellulitis, Bone marrow hypocellularity, Limitation of joint mobility, Abnormal lymphocyte morpho... ORPHA:47612
Neuraminidase Deficiency
Ascites, Epiphyseal stippling, Splenomegaly, Dysmetria, Inguinal hernia, Cardiomegaly, Hepatomega... OMIM:256550
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Inflammatory abnormality of the skin, Diarrhea, Lymphopenia, Hepatosplenomegaly, Abnormal circula... ORPHA:391487
Beemer-Ertbruggen Syndrome
Increased bone mineral density, Cryptorchidism, Thrombocytopenia ORPHA:1237
Alpha-Thalassemia-Myelodysplastic Syndrome
Acute leukemia, HbH hemoglobin, Microcytic anemia, Splenomegaly, Neutropenia, Thrombocytopenia ORPHA:231401
Osteomesopyknosis
Increased bone mineral density, Abnormal cortical bone morphology ORPHA:2777
Adenocarcinoma Of The Esophagus
Gastroesophageal reflux, Obesity, Nausea and vomiting, Clinodactyly of the 5th toe, Feeding diffi... ORPHA:99976
T-Cell Immunodeficiency With Thymic Aplasia
Pneumonia, Diarrhea, Eczematoid dermatitis, Malabsorption, Decreased proportion of naive T cells,... ORPHA:83471
Cerebroretinal Microangiopathy With Calcifications And Cysts 2
Abnormally low T cell receptor excision circle level, Hepatic fibrosis, Bone marrow hypocellulari... OMIM:617341
Rhizomelic Dysplasia, Ain-Naz Type
Rhizomelia, Limitation of joint mobility, Wide distal femoral metaphysis, Short humerus, Hypoplas... OMIM:619598
Systemic Mastocytosis With Associated Hematologic Neoplasm
Diarrhea, Chronic lymphatic leukemia, Acute myeloid leukemia, Weight loss, Neutrophilia, Hepatome... ORPHA:98849
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Reduced red cell pyruvate kinase level, Congenital hemolytic anemia, Abnormal erythrocyte morphol... ORPHA:766
Whipple Disease
Ataxia, Uveitis, Diarrhea, Gastrointestinal hemorrhage, Anorexia, Malabsorption, Splenomegaly, In... ORPHA:3452
Fragile Site, Distamycin A Type, Rare, Fra(16)(Q22.1)
Abnormal lymph node morphology OMIM:136580
Immunodeficiency 91 And Hyperinflammation
Neutrophilia, Recurrent pneumonia, Hemophagocytosis, Acute hepatic failure, Hepatosplenomegaly, I... OMIM:619644
Nodular Lymphocyte Predominant Hodgkin Lymphoma
Splenomegaly, Hyperhidrosis, Lymphadenopathy, Anorexia, Hepatomegaly ORPHA:86893
Refractory Celiac Disease
Normocytic anemia, Malnutrition, Microcytic anemia, Abnormal spleen physiology, Malabsorption, Ma... ORPHA:398063
Immunodeficiency With Hyper-Igm, Type 4
Osteomyelitis, Autoimmune thrombocytopenia, Absence of lymph node germinal center, Autoimmune hem... OMIM:608184
Encephalopathy Due To Prosaposin Deficiency
Hepatomegaly, Splenomegaly ORPHA:139406
Metaphyseal Modeling Abnormality, Skin Lesions, And Spastic Paraplegia
Increased bone mineral density OMIM:250500
12q14 microdeletion syndrome
Osteopoikilosis DECIPHER:76
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Hepatic fibrosis, Inflammation of the large intestine, Hematochezia, Lymphadenitis, Eczematoid de... OMIM:615895
Hepatic Venoocclusive Disease With Immunodeficiency
Abnormality of the liver, Absence of lymph node germinal center OMIM:235550
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis
Allergic rhinitis, Malnutrition, Exocrine pancreatic insufficiency, Skin rash, Splenomegaly, Anem... OMIM:612714
Thiamine-Responsive Megaloblastic Anemia Syndrome
Diarrhea, Lethargy, Megaloblastic anemia, Thrombocytopenia, Anorexia, Short stature ORPHA:49827
Immunodeficiency 82 With Systemic Inflammation
Diarrhea, Decreased circulating total IgG, Pustular rash, Recurrent otitis media, Follicular hype... OMIM:619381
Farber Lipogranulomatosis
Osteolysis involving bones of the feet, Failure to thrive, Splenomegaly, Lipogranulomatosis, Oste... OMIM:228000
Immunodeficiency 40
Focal active colitis, Recurrent pneumonia, Eosinophilic granuloma, Recurrent otitis media, Interm... OMIM:616433
Anemia, Sideroblastic, 2, Pyridoxine-Refractory
Anemia, Sideroblastic anemia, Decreased mean corpuscular volume, Hypochromia OMIM:205950
Sézary Syndrome
Ectropion, Abnormal lymphocyte morphology, Splenomegaly, Abnormal immunoglobulin level, Erythrode... ORPHA:3162
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin
Poikilocytosis, Oval macrocytosis, Anemia of inadequate production, Anisocytosis OMIM:603529
Wolman Disease
Vomiting, Acute hepatic failure, Splenomegaly, Abdominal distention, Hepatomegaly OMIM:620151
Sandhoff Disease
Hepatomegaly, Splenomegaly, Ataxia ORPHA:796
Weismann-Netter Syndrome
Aplasia/Hypoplasia of the radius, Abnormal tibia morphology, Abnormal hip bone morphology, Abnorm... ORPHA:3344
Cronkhite-Canada Syndrome
Diarrhea, Aplasia/Hypoplasia of the eyebrow, Malabsorption, Splenomegaly, Hepatomegaly, Anorexia,... ORPHA:2930
Immunodeficiency With Hyper-Igm, Type 3
Absence of lymph node germinal center, Neutropenia OMIM:606843
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia
Recurrent pneumonia, Vomiting, Eczematoid dermatitis, Hypersegmentation of neutrophil nuclei, Lym... OMIM:617780
Immunodeficiency 49
Abnormally low T cell receptor excision circle level, Umbilical hernia, Lymphopenia, Eosinophilia... OMIM:617237
Mast Cell Sarcoma
Mastocytosis, Splenomegaly, Weight loss, Lymphadenopathy, Hepatomegaly, Mediastinal lymphadenopathy ORPHA:66661
Hereditary Spherocytosis
Spontaneous hemolytic crises, Cholelithiasis, Abdominal distention, Increased mean corpuscular he... ORPHA:822
Hypertriglyceridemia, Transient Infantile
Hepatic fibrosis, Vomiting, Hepatic steatosis, Splenomegaly, Hepatomegaly, Short stature OMIM:614480
Aregenerative Anemia
Bone marrow hypocellularity, Pancytopenia, Decreased proportion of CD4-positive helper T cells, A... ORPHA:101096
Hereditary Folate Malabsorption
Diarrhea, Gastroesophageal reflux, Pancytopenia, Decreased circulating antibody level, Nausea and... ORPHA:90045
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3
Abnormal B cell morphology, Recurrent otitis media, Intrauterine growth retardation, Agammaglobul... OMIM:616910
Osteosclerosis-Developmental Delay-Craniosynostosis Syndrome
Craniosynostosis, Increased bone mineral density ORPHA:178377
Pediatric Systemic Lupus Erythematosus
Discoid lupus rash, Nephritis, Diarrhea, Abdominal distention, Vomiting, Microangiopathic hemolyt... ORPHA:93552
Cholesteryl Ester Storage Disease
Hepatic failure, Diarrhea, Nausea and vomiting, Splenomegaly, Cirrhosis, Hepatomegaly, Jaundice ORPHA:75234
Immunodeficiency 9
Decreased circulating IgG level, Difficulty walking, Lymphopenia, Recurrent aphthous stomatitis, ... OMIM:612782
Transcobalamin Ii Deficiency
Decreased circulating IgG level, Diarrhea, Vomiting, Pancytopenia, Decreased circulating IgA leve... OMIM:275350
Graft Versus Host Disease
Pneumonia, Inflammatory abnormality of the skin, Diarrhea, Hemophagocytosis, Vomiting, Fasciitis,... ORPHA:39812
Congenital Bile Acid Synthesis Defect Type 1
Gastrointestinal hemorrhage, Failure to thrive, Malabsorption, Neonatal cholestatic liver disease... ORPHA:79301
Sialidosis Type 2
Umbilical hernia, Ascites, Splenomegaly, Tremor, Inguinal hernia, Ataxia, Hepatomegaly, Osteoporo... ORPHA:87876
Rothmund-Thomson Syndrome Type 1
Diarrhea, Aplastic anemia, Patellar aplasia, Cryptorchidism, Neutropenia, Leukemia, Short metacar... ORPHA:221008
Mendelian Susceptibility To Mycobacterial Diseases Due To Partial Irf8 Deficiency
Lymphadenopathy ORPHA:319600
Femoral-Facial Syndrome
Aplasia/Hypoplasia of the tibia, Abnormal pelvic girdle bone morphology, Preaxial foot polydactyl... ORPHA:1988
Bone Marrow Failure Syndrome 6
Bone marrow hypocellularity, Osteopenia, Increased mean corpuscular volume, Persistence of hemogl... OMIM:618849
Rothmund-Thomson Syndrome Type 2
Diarrhea, Aplastic anemia, Patellar aplasia, Aplasia/hypoplasia involving bones of the upper limb... ORPHA:221016
Erythrocytosis, Familial, 1
Increased circulating hemoglobin concentration, Increased hematocrit, Splenomegaly, Increased red... OMIM:133100
Spondyloenchondrodysplasia With Immune Dysregulation
Rheumatoid arthritis, Short iliac bones, Lymphopenia, Metaphyseal sclerosis, Sclerosis of skull b... OMIM:607944
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome
Slender finger, Hemiatrophy of upper limb, Micrognathia, Delayed patellar ossification, Abnormal ... ORPHA:163649
Sea-Blue Histiocytosis
Sea-blue histiocytosis, Splenomegaly, Thrombocytopenia, Hepatomegaly, Mediastinal lymphadenopathy... ORPHA:158029
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Inflammatory abnormality of the skin, Increased circulating IgE level, Psoriasiform dermatitis, C... ORPHA:37042
Chondrodysplasia, Blomstrand Type
Fetal ascites, Micromelia, Flared metaphysis, Advanced tarsal ossification, Micrognathia, Short r... OMIM:215045
Pediatric-Onset Graves Disease
Diarrhea, Keratitis, Graves disease, Intrauterine growth retardation, Episcleritis, Splenomegaly,... ORPHA:525731
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay
Ataxia, Sideroblastic anemia, Splenomegaly, B lymphocytopenia, Hypochromic microcytic anemia, Sch... OMIM:616084
Congenital Disorder Of Glycosylation, Type Ii
Diarrhea, Gastroesophageal reflux, Nasogastric tube feeding, Upslanted palpebral fissure, Epicant... OMIM:607906
Hypocomplementemic Urticarial Vasculitis
Diarrhea, Ascites, Episcleritis, Skin rash, Splenomegaly, Nausea and vomiting, Hepatomegaly, Abdo... ORPHA:36412
Immunodeficiency 67
Abnormal T cell count, Increased circulating IgE level, Transient neutropenia, Abnormal B cell co... OMIM:607676
Immunodeficiency 10
Decreased circulating IgG level, Recurrent pneumonia, Recurrent otitis media, Decreased circulati... OMIM:612783
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Nausea and vomiting, Hepatomegaly, Lethargy, Pancreatitis, Thrombocytopenia, Neutropenia, Anemia,... ORPHA:289916
Agammaglobulinemia 9, Autosomal Recessive
Absent circulating B cells, Failure to thrive, Thrombocytopenia OMIM:619693
Deafness-Lymphedema-Leukemia Syndrome
Bone marrow hypocellularity, Acute leukemia, Leukocytosis, Splenomegaly, Nausea and vomiting, Lym... ORPHA:3226
Muckle-Wells Syndrome
Recurrent aphthous stomatitis, Episcleritis, Skin rash, Splenomegaly, Hepatomegaly, Abdominal pai... ORPHA:575
Gaucher Disease Type 1
Hepatosplenomegaly, Pancytopenia, Hypersplenism, Cirrhosis, Anorexia, Hepatomegaly, Abdominal pai... ORPHA:77259
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Acute monocytic leukemia, Congenital agranulocytosis, Thrombocytosis, Increased circulating antib... OMIM:202700
Van Buchem Disease
Thickened cortex of long bones, Increased bone mineral density, Cranial hyperostosis OMIM:239100
Rothmund-Thomson Syndrome
Abnormal trabecular bone morphology, Osteopenia, Aplasia/Hypoplasia of the radius, Aplastic anemi... ORPHA:2909
Neonatal Severe Primary Hyperparathyroidism
Hepatomegaly, Recurrent fractures, Abnormal metaphysis morphology, Splenomegaly ORPHA:417
Camurati-Engelmann Disease
Limitation of joint mobility, Abnormal tibia morphology, Slender build, Genu valgum, Cachexia, Pe... ORPHA:1328
Lethal Recessive Chondrodysplasia
Micromelia, Micrognathia, Flared elbow metaphyses, Limb undergrowth, Generalized osteosclerosis, ... ORPHA:1423
Gaucher Disease
Pancytopenia, Feeding difficulties in infancy, Cirrhosis, Ataxia, Hepatomegaly, Abdominal pain, D... ORPHA:355
Sepsis In Premature Infants
Diarrhea, Abdominal distention, Vomiting, Decreased liver function, Increased circulating interle... ORPHA:90051
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Enlarged metaphyses, Abnormal ilium morphology, Postaxial foot polydactyly, Broad phalanges of th... ORPHA:508533
Thanatophoric Dysplasia, Glasgow Variant
Anemia, Hepatosplenomegaly OMIM:273680
Craniodiaphyseal Dysplasia, Autosomal Dominant
Craniofacial hyperostosis, Diaphyseal sclerosis, Craniofacial osteosclerosis, Cortical sclerosis OMIM:122860
Aicardi-Goutieres Syndrome 4
Hepatosplenomegaly, Pancytopenia, Intrauterine growth retardation, Splenomegaly, Thrombocytopenia... OMIM:610333
Erdheim-Chester Disease
Abnormal epiphysis morphology, Osteomyelitis, Nausea and vomiting, Abdominal pain, Weight loss, A... ORPHA:35687
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome
Uveitis, Diarrhea, Vomiting, Erysipelas, Fasciitis, Leukocytosis, Splenomegaly, Skin rash, Orchit... ORPHA:32960
Primary Myelofibrosis
Extramedullary hematopoiesis, Anorexia, Hepatosplenomegaly, Pancytopenia, Leukocytosis, Splenomeg... ORPHA:824
Tyrosinemia Type 1
Acute hepatic failure, Rickets of the lower limbs, Splenomegaly, Hepatomegaly, Hepatocellular car... ORPHA:882
Immunodeficiency 43
Reduced natural killer cell count, Radial bowing, Hypoplasia of the ulna, Lung abscess, B lymphoc... OMIM:241600
Melorheostosis
Atypical scarring of skin, Lower limb asymmetry, Failure to thrive, Joint stiffness, Ectopic ossi... ORPHA:2485
Primary Intestinal Lymphangiectasia
Decreased circulating IgG level, Peritoneal effusion, Intestinal lymphangiectasia, Ascites, Lymph... ORPHA:90362
Lactose Intolerance, Adult Type
Lactose intolerance, Abdominal pain, Diarrhea, Flatulence OMIM:223100
Congenital Disorder Of Glycosylation, Type Ih
Diarrhea, Vomiting, Failure to thrive, Decreased liver function, Cholestasis, Ascites, Cryptorchi... OMIM:608104
Dystonia 31
Arm dystonia, Abnormal posturing, Generalized dystonia, Difficulty walking, Leg dystonia, Craniof... OMIM:619565
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To
Bone marrow hypocellularity, Eczematoid dermatitis, Leukopenia, Acute myeloid leukemia, Monocytos... OMIM:616871
Mirage Syndrome
Gastroesophageal reflux, Radial club hand, Lymphopenia, Leukopenia, Overlapping fingers, Decrease... OMIM:617053
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome
Accessory spleen, Hepatic fibrosis, Severe B lymphocytopenia, Small hand, Exocrine pancreatic ins... OMIM:620005
Autoinflammation With Arthritis And Dyskeratosis
Hypereosinophilia, Splenomegaly, Autoimmune hemolytic anemia, Punctate keratitis, Keratoconjuncti... OMIM:617388
Eosinophilia, Familial
Anemia, Eosinophilia, Leukocytosis, Thrombocytopenia OMIM:131400
Vitamin B12-Unresponsive Methylmalonic Acidemia
Leukopenia, Nausea and vomiting, Macrocytic anemia, Hepatomegaly, Lethargy, Pancreatitis, Thrombo... ORPHA:27
Bone Marrow Failure Syndrome 2
Anemia, Bone marrow hypocellularity, Leukopenia, Thrombocytopenia OMIM:615715
Kaposi Sarcoma
Diarrhea, Abnormality of the spleen, Abnormality of the liver, Skin rash, Generalized lymphadenop... ORPHA:33276
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor
Delayed epiphyseal ossification, Rickets, Bulging epiphyses, Rickets of the lower limbs, Genu val... OMIM:600785
12Q14 Microdeletion Syndrome