Genes Phenotypes Help, News, Blog

Please enable javascript if you want to log in to follow or stop following this gene.

Gene: Ptpn2 MGI:97806

Gene Summary

Name:

protein tyrosine phosphatase, non-receptor type 2

Synonyms:

TC-PTP, Ptpt

Order Alleles

IMPC Data Collections

Body Weight Measurements
No Embryo Imaging Data
No Viability Data

IMPC Phenotype Summary

Significant

Not Significant

Not tested

View all our phenotype data below

Phenotypes

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

Phenotype	System	Allele	Zyg	Sex	Life Stage	P Value
increased hemoglobin content		Ptpn2^{tm1a(EUCOMM)Wtsi}	HET		Early adult	9.93×10^-06

Download data as: TSV XLS

Select physiological systems to view:

Viewing: all phenotypes

Select physiological systems to view:

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

Ptpn2^{tm1a(EUCOMM)Wtsi}
body, HET, Female, WTSI

Ptpn2^{tm1a(EUCOMM)Wtsi}
head, HET, Female, WTSI

Ptpn2^{tm1a(EUCOMM)Wtsi}
body, HET, Female, WTSI

Ptpn2^{tm1a(EUCOMM)Wtsi}
head, HET, Female, WTSI

Ptpn2^{tm1a(EUCOMM)Wtsi}
body, HET, Female, WTSI

View all 139 images

Ptpn2^{tm1a(EUCOMM)Wtsi}
back skin, WT, Female, WTSI

Ptpn2^{tm1a(EUCOMM)Wtsi}
back skin, HET, Female, WTSI

Ptpn2^{tm1a(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.

Human diseases associated with Ptpn2 (2 diseases)
Human diseases predicted to be associated with Ptpn2 (1351 diseases)

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		Abnormal metacarpophalangeal joint morphology, Ankle swelling, Abnormal metatarsal morphology, Jo...	ORPHA:85408
Oligoarticular Juvenile Idiopathic Arthritis		Knee osteoarthritis, Oligoarthritis, Uveitis, Increased circulating interferon-gamma concentratio...	ORPHA:85410

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

Disease	Matching phenotypes	Source
Hemoglobin-Delta locus	Imbalanced hemoglobin synthesis, Anemia	OMIM:142000
Hemoglobin D Disease	Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A...	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	Abnormal hemoglobin, Anemia	ORPHA:231249
Severe Combined Immunodeficiency Due To Foxn1 Deficiency	T lymphocytopenia	ORPHA:169095
Immunodeficiency 105	Impaired lymphocyte transformation with phytohemagglutinin, Decreased circulating IgG level, Panc...	OMIM:619924
Acetophenetidin Sensitivity	Hemolytic anemia, Methemoglobinemia	OMIM:200300
Immunodeficiency 104	Hepatomegaly, Eczema, Pneumonia, Splenomegaly, Diarrhea, Chronic mucocutaneous candidiasis, Lymph...	OMIM:608971
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation	Herpes simplex encephalitis, Increased circulating IgE level, Bronchiectasis, Lymphadenopathy, In...	OMIM:618982
Delta-Beta-Thalassemia	Abnormal hemoglobin, Anemia, Microcytic anemia	ORPHA:231237
Autoimmune Lymphoproliferative Syndrome, Type Iii	Increased proportion autoreactive unresponsive CD21-/low B cells, Hepatomegaly, Autoimmune hemoly...	OMIM:615559
B-Cell Expansion With Nfkb And T-Cell Anergy	Decreased specific antibody response to polysaccharide vaccine, Splenomegaly, Decreased circulati...	OMIM:616452
Hemoglobin C-Beta-Thalassemia Syndrome	Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia	ORPHA:231242
Immunodeficiency 18	Decreased proportion of CD3-positive T cells, Lymphopenia	OMIM:615615
Pulmonary Nodular Lymphoid Hyperplasia	Mediastinal lymphadenopathy, Plasmacytosis, Follicular hyperplasia	ORPHA:60026
Fetal Cytomegalovirus Syndrome	Splenomegaly, Anemia, Hepatomegaly	ORPHA:294
Hemoglobin H Disease	Splenomegaly, Hemolytic anemia, Reduced alpha/beta synthesis ratio, HbH hemoglobin	OMIM:613978
Beta-Thalassemia, Dominant Inclusion Body Type	Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, Erythrocyte inclu...	OMIM:603902
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes	T lymphocytopenia	OMIM:242870
Immunodeficiency 76	Splenomegaly, Recurrent pneumonia, Chronic diarrhea, Lymphadenopathy, Growth delay, T lymphocytop...	OMIM:619164
Immunodeficiency 24	Lymphopenia, Decreased CD4:CD8 ratio, Decreased circulating IgG2 level, Reduced proportion of muc...	OMIM:615897
Immunodeficiency, Common Variable, 1	Hepatomegaly, Pneumonia, Impaired T cell function, Splenomegaly, Diarrhea, Recurrent pneumonia, N...	OMIM:607594
Immunodeficiency 48	Hepatomegaly, Pneumonia, Absence of CD8-positive T cells, Splenomegaly, Diarrhea, Eczematoid derm...	OMIM:269840
Hereditary Progressive Mucinous Histiocytosis	Mucinous histiocytosis, Lymphadenopathy	ORPHA:158025
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant	Splenomegaly, Decreased proportion of class-switched memory B cells, Lymphadenopathy, T lymphocyt...	OMIM:615513
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency	Feeding difficulties in infancy, Increased T cell count, Increased circulating IgG level, Inflamm...	ORPHA:98813
Autoimmune Lymphoproliferative Syndrome, Type Iia	Iron deficiency anemia, Increased circulating IgG level, Increased B cell count, Reduced delayed ...	OMIM:603909
Immunodeficiency 27A	Increased inflammatory response, Pneumonia, Anorexia, Splenomegaly, Leukocytosis, Diarrhea, Hepat...	OMIM:209950
Methemoglobinemia, Beta Type	Methemoglobinemia	OMIM:617971
Methemoglobinemia, Alpha Type	Methemoglobinemia	OMIM:617973
Mu-Heavy Chain Disease	Hepatomegaly, Abnormal B cell count, Splenomegaly, Osteoporosis, Osteolysis, Lymphadenopathy, Wei...	ORPHA:100024
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency	Inflammatory abnormality of the skin, Sinusitis, Absence of lymph node germinal center, Diarrhea,...	ORPHA:277
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome	Splenomegaly, Ataxia, Gait disturbance, Hepatomegaly	ORPHA:2274
Immunodeficiency 19	T lymphocytopenia, Failure to thrive, Abnormal B cell morphology, Abnormal natural killer cell mo...	OMIM:615617
Combined Cellular And Humoral Immune Defects With Granulomas	T lymphocytopenia, B lymphocytopenia	OMIM:233650
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia	Cervical lymphadenopathy, B lymphocytopenia, Failure to thrive in infancy, Abnormally low T cell ...	OMIM:618987
Immunodeficiency 69	Pancytopenia, Skin rash, Splenomegaly, Leukocytosis, Diarrhea, Hepatosplenomegaly, Thrombocytosis...	OMIM:618963
Fibular Hemimelia	Bowing of the legs, Structural foot deformity, Tibial bowing, Increased laxity of ankles, Foot ol...	ORPHA:93323
Immunodeficiency 75 With Lymphoproliferation	Decreased proportion of class-switched memory B cells, Follicular hyperplasia, Lymphadenopathy, H...	OMIM:619126
Alpha-Thalassemia Myelodysplasia Syndrome	Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia	OMIM:300448
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome	Hemolytic anemia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Hepatit...	ORPHA:444463
Immunodeficiency 15A	Decreased proportion of CD4-positive helper T cells, Decreased proportion of CD8-positive T cells...	OMIM:618204
Immunodeficiency 103, Susceptibility To Fungal Infections	Abnormal B cell count, Increased circulating IgE level, Hypereosinophilia, Lymphadenopathy, Chron...	OMIM:212050
Diamond-Blackfan Anemia 19	Erythroid hypoplasia, Steroid-responsive anemia, Anemia	OMIM:618312
Cernunnos-Xlf Deficiency	Anemia, T lymphocytopenia, B lymphocytopenia, Lymphopenia, Thrombocytopenia	ORPHA:169079
Hemoglobin E Disease	Drug-sensitive hemolytic anemia, Abnormal hemoglobin, Anemia of inadequate production, Splenomega...	ORPHA:2133
Immunodeficiency 52	Decreased proportion of CD4-positive T cells, Failure to thrive, Autoimmune thrombocytopenia, Spl...	OMIM:617514
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type	Hepatomegaly, Increased bone mineral density, Splenomegaly, Abnormal limb bone morphology, Limb u...	ORPHA:2204
Macrophage Activation Syndrome	Hepatomegaly, Increased inflammatory response, Increased circulating interleukin 6 concentration,...	ORPHA:158061
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome	Anemia, Splenomegaly, Abnormal hemoglobin, Thrombocytopenia	ORPHA:231393
Immunodeficiency 84	Perianal abscess, Splenomegaly, B lymphocytopenia	OMIM:619437
Schnitzler Syndrome	Hepatomegaly, Increased bone mineral density, Splenomegaly, Leukocytosis, Lymphadenopathy, Arthri...	ORPHA:37748
Caspase 8 Deficiency	Decreased circulating IgG level, Complete or near-complete absence of specific antibody response ...	OMIM:607271
Osteochondrosis Of The Metatarsal Bone	Flattened metatarsal heads, Abnormality of the fifth metatarsal bone, Sclerosis of foot bone, Abn...	ORPHA:564003
Ghosal Hematodiaphyseal Dysplasia	Craniofacial hyperostosis, Bowing of the long bones, Splenomegaly, Abnormal tibia morphology, Abn...	ORPHA:1802
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells	Hypersplenism, Splenomegaly, Pancytopenia, Decreased helper T cell proportion	OMIM:183350
X-Linked Sideroblastic Anemia And Spinocerebellar Ataxia	Intrauterine growth retardation, Ataxia, Anemia	ORPHA:2802
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant	T lymphocytopenia, Abnormally low T cell receptor excision circle level	OMIM:618806
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity	Hepatomegaly, Autoimmune hemolytic anemia, Lymphocytic interstitial pneumonia, Splenomegaly, Diar...	OMIM:618495
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome	Chronic oral candidiasis, Abscess, Intermittent thrombocytopenia, Abnormal CD4:CD8 ratio, Splenom...	OMIM:150550
T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy	T lymphocytopenia, Decreased helper T cell proportion	OMIM:601705
Immunodeficiency 109 With Lymphoproliferation	Pancytopenia, Generalized lymphadenopathy, Splenomegaly, Bronchiectasis, Absent circulating B cel...	OMIM:620282
Immunodeficiency 64 With Lymphoproliferation	Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of CD4-pos...	OMIM:618534
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation	Hepatomegaly, Generalized lymphadenopathy, Aplasia of the thymus, Eosinophilia, Pneumonia, Spleno...	OMIM:602450
Neutropenia, Severe Congenital, 5, Autosomal Recessive	Hepatomegaly, Extramedullary hematopoiesis, Splenomegaly, Thrombocytopenia, Chronic diarrhea, Leu...	OMIM:615285
Agammaglobulinemia 8B, Autosomal Recessive	Pancytopenia, Splenomegaly, Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, B Acu...	OMIM:619824
Immunodeficiency 97 With Autoinflammation	Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, Colitis, Decreased circulating Ig...	OMIM:619802
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive	Leukocytosis, Ulcerative colitis, Anemia, Bloody diarrhea	OMIM:619398
Mueller-Weiss Syndrome	Limitation of movement at ankles, Pes planus, Edema of the dorsum of feet, Sclerosis of foot bone...	ORPHA:566943
Agammaglobulinemia 3, Autosomal Recessive	Diarrhea, Abnormal T cell morphology, Agammaglobulinemia, Absent isohemagglutinin level, Absent c...	OMIM:613501
Ghosal Hematodiaphyseal Dysplasia	Refractory anemia, Myelofibrosis, Increased bone mineral density, Leukopenia, Hyperostosis crania...	OMIM:231095
Transient Erythroblastopenia Of Childhood	Transient erythroblastopenia, Anemia	OMIM:227050
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias	Decreased proportion of CD4+CD25+ regulatory T cells, Follicular hyperplasia, Autoimmune thromboc...	OMIM:619846
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive	Pneumonia, Purulent rhinitis, Diarrhea, T lymphocytopenia, Arthritis, B lymphocytopenia, Conjunct...	OMIM:601457
Reticular Dysgenesis	Skin rash, Abnormality of neutrophils, Diarrhea, Decreased circulating antibody level, Leukopenia...	ORPHA:33355
Isolated Agammaglobulinemia	Recurrent cutaneous abscess formation, Sinusitis, Skin rash, Abnormality of the tonsils, Abnormal...	ORPHA:229717
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)	T lymphocytopenia	DECIPHER:16
Immunodeficiency 102	Increased circulating interleukin 6 concentration, Leukopenia, Decreased circulating IgG level, H...	OMIM:301082
Agammaglobulinemia 6, Autosomal Recessive	Diarrhea, Recurrent pneumonia, Abnormal T cell morphology, Agammaglobulinemia, Decreased circulat...	OMIM:612692
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome	Persistence of hemoglobin F, Splenomegaly, Anemia	ORPHA:46532
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia	Decreased proportion of CD4-positive T cells, Autoimmune thrombocytopenia, Splenomegaly, Mediasti...	OMIM:300853
Activated Pi3K-Delta Syndrome	Hepatomegaly, Pneumonia, Splenomegaly, Recurrent tonsillitis, Bronchiectasis, Lymphadenopathy, De...	ORPHA:397596
Immunodeficiency, Common Variable, 2	Hepatomegaly, Impaired T cell function, Follicular hyperplasia, Splenomegaly, Diarrhea, Recurrent...	OMIM:240500
Familial Hemophagocytic Lymphohistiocytosis	Increased circulating interleukin 6 concentration, Increased circulating interferon-gamma concent...	ORPHA:540
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta	Decreased circulating IgG level, Eosinophilia, Pneumonia, Anorexia, Diarrhea, Recurrent pneumonia...	ORPHA:169160
Intermediate Osteopetrosis	Osteomyelitis, Recurrent fractures, Cortical sclerosis, Generalized osteosclerosis, Hepatosplenom...	ORPHA:210110
Osteopetrosis, Autosomal Recessive 1	Hepatomegaly, Pancytopenia, Increased bone mineral density, Femur fracture, Osteomyelitis, Cranio...	OMIM:259700
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation	Decreased circulating IgG level, Hepatomegaly, Autoimmune hemolytic anemia, Atrophic gastritis, P...	OMIM:616100
Alpha-Thalassemia	Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia	OMIM:604131
Beta-Thalassemia	Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia	OMIM:613985
Diamond-Blackfan Anemia 17	Anemia	OMIM:617409
Immunodeficiency 36 With Lymphoproliferation	Decreased circulating IgG level, Short stature, Splenomegaly, Chronic diarrhea, Enlarged tonsils,...	OMIM:616005
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency	Metaphyseal chondrodysplasia, Lymphopenia, Hypoplasia of the thymus	OMIM:200900
Neutrophilia, Hereditary	Splenomegaly, Neutrophilia	OMIM:162830
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency	Decreased proportion of naive T cells, Recurrent cutaneous fungal infections, Increased circulati...	ORPHA:276
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency	Atrophic gastritis, Pure red cell aplasia, Inflammation of the large intestine, Decreased circula...	ORPHA:436159
Albers-Schönberg Osteopetrosis	Abnormal leukocyte morphology, Osteomyelitis, Recurrent fractures, Mandibular osteomyelitis, Gene...	ORPHA:53
Severe Combined Immunodeficiency, X-Linked	Impaired lymphocyte transformation with phytohemagglutinin, Hepatomegaly, Skin rash, Pneumonia, R...	OMIM:300400
Immunodeficiency 98 With Autoinflammation, X-Linked	Hepatomegaly, Autoimmune hemolytic anemia, Chronic oral candidiasis, Splenomegaly, Lymphadenopath...	OMIM:301078
Majeed Syndrome	Hepatomegaly, Increased bone mineral density, Osteomyelitis, Cachexia, Congenital hypoplastic ane...	ORPHA:77297
Osteopetrosis, Autosomal Recessive 4	Reticulocytosis, Hepatomegaly, Increased bone mineral density, Recurrent fractures, Splenomegaly,...	OMIM:611490
Reticuloendotheliosis, X-Linked	Jaundice, Lymphadenopathy, Anemia, Hepatosplenomegaly	OMIM:312500
Immunodeficiency, Common Variable, 11	Mucoid diarrhea, Increased circulating IgE level, Decreased proportion of class-switched memory B...	OMIM:615767
Persistent Polyclonal B-Cell Lymphocytosis	Splenomegaly, Decreased circulating total IgM, Lymphocytosis, Hepatomegaly	OMIM:606445
Immunodeficiency 13	Lymphopenia, T lymphocytopenia, B lymphocytopenia, Decreased proportion of CD4-positive helper T ...	OMIM:615518
Aicardi-Goutieres Syndrome 6	Hemolytic anemia, Hepatomegaly, Chilblains, Splenomegaly, Feeding difficulties, Loss of ambulatio...	OMIM:615010
Gaucher Disease, Atypical, Due To Saposin C Deficiency	Osteopenia, Hepatomegaly, Hypersplenism, Splenomegaly, Anemia, Erlenmeyer flask deformity of the ...	OMIM:610539
Ras-Associated Autoimmune Leukoproliferative Disorder	Hemolytic anemia, Pancytopenia, Hepatomegaly, Autoimmune thrombocytopenia, Follicular hyperplasia...	OMIM:614470
Immunodeficiency 78 With Autoimmunity And Developmental Delay	Autoimmune hemolytic anemia, Fluctuating splenomegaly, Autoimmune thrombocytopenia, Neutropenia i...	OMIM:619220
Hemophagocytic Lymphohistiocytosis, Familial, 4	Hepatomegaly, Skin rash, Splenomegaly, Jaundice, Lymphadenopathy, Anemia, Conjunctivitis, Hemopha...	OMIM:603552
Ataxia-Pancytopenia Syndrome	Pancytopenia, Abnormal macrophage morphology, Ataxia, Abnormality of neutrophils, Splenomegaly, U...	ORPHA:2585
Immunodeficiency 68	Abscess, Lymphadenitis, T lymphocytopenia, B lymphocytopenia, Septic arthritis, Abnormal natural ...	OMIM:612260
Immunodeficiency 14B, Autosomal Recessive	Neutrophilia, Reduced natural killer cell activity, Leukocytosis, Recurrent pneumonia, Chronic di...	OMIM:619281
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency	Decreased circulating IgG level, Hepatomegaly, Abnormal B cell count, Abnormal T cell count, Auto...	ORPHA:331206
Alpha-Heavy Chain Disease	Hepatomegaly, Dysgammaglobulinemia, Abdominal pain, Splenomegaly, Lymphadenopathy, Growth delay, ...	ORPHA:100025
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease	Splenomegaly, Thrombocytopenia, Hepatosplenomegaly, Lymphadenopathy, Decreased circulating antibo...	OMIM:613101
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency	Hepatomegaly, Glomerulonephritis, Decreased proportion of marginal zone B cells, Autoimmune throm...	OMIM:619375
Lymphoproliferative Syndrome 3	Reduced natural killer cell count, Lymphadenopathy, Hepatosplenomegaly	OMIM:618261
Agammaglobulinemia 8A, Autosomal Dominant	B lymphocytopenia	OMIM:616941
Omenn Syndrome	Hepatomegaly, Severe B lymphocytopenia, Eosinophilia, Pneumonia, Splenomegaly, Thrombocytopenia, ...	OMIM:603554
Immunodeficiency, Common Variable, 8, With Autoimmunity	Atrophic gastritis, Generalized lymphadenopathy, Uveitis, Inflammation of the large intestine, Co...	OMIM:614700
Osteosclerotic Metaphyseal Dysplasia	Dense metaphyseal bands, Metaphyseal dysplasia, Increased bone mineral density, Clavicular sclero...	OMIM:615198
Trimethylaminuria	Splenomegaly, Recurrent pneumonia, Anemia, Neutropenia	OMIM:602079
Immunodeficiency 7	Hepatomegaly, Autoimmune hemolytic anemia, Chronic oral candidiasis, Splenomegaly, Diarrhea, Hype...	OMIM:615387
Immunodeficiency 57 With Autoinflammation	Skin rash, Gastritis, Perianal abscess, Diarrhea, Bronchiectasis, Decreased circulating antibody ...	OMIM:618108
Gaucher Disease Type 1	Osteopenia, Hepatomegaly, Pancytopenia, Increased bone mineral density, Anorexia, Abdominal pain,...	ORPHA:77259
Osteopetrosis, Autosomal Recessive 8	Hepatomegaly, Splenomegaly, Feeding difficulties, Anemia, Osteopetrosis, Failure to thrive, Throm...	OMIM:615085
Immunodeficiency 60 And Autoimmunity	Pancytopenia, Splenomegaly, Chronic diarrhea, Bronchiectasis, Ulcerative colitis, Decreased circu...	OMIM:618394
Hyper-Ige Syndrome 5, Autosomal Recessive, With Recurrent Infections	Increased circulating interleukin 6 concentration, Recurrent skin infections, Increased circulati...	OMIM:618944
Combined Immunodeficiency Due To Partial Rag1 Deficiency	Autoimmune hemolytic anemia, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, ...	ORPHA:231154
Autoimmune Lymphoproliferative Syndrome	Uveitis, Increased circulating IgG level, Colitis, Lymphocytosis, Increased B cell count, Decreas...	ORPHA:3261
Combined Immunodeficiency, X-Linked	Decreased proportion of CD4-positive helper T cells, Decreased proportion of CD8-positive T cells	OMIM:312863
Glycoprotein Storage Disease	Splenomegaly, Gout	OMIM:232900
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2	Epicanthus, Pneumonia, Diarrhea, Decreased circulating antibody level, Growth delay, Decreased ci...	OMIM:614069
Autoinflammation With Infantile Enterocolitis	Pancytopenia, Skin rash, Short stature, Reduced natural killer cell activity, Feeding difficultie...	OMIM:616050
Immunodeficiency 21	Osteomyelitis, Aplastic anemia, B lymphocytopenia, Neutropenia, Monocytopenia, Myeloid leukemia, ...	OMIM:614172
Mantle Cell Lymphoma	Splenomegaly, Weight loss, Lymphadenopathy	ORPHA:52416
Immunodeficiency 62	Increased proportion of transitional B cells, Decreased proportion of memory B cells, B lymphocyt...	OMIM:618459
Folate Malabsorption, Hereditary	Ataxia, Folate-responsive megaloblastic anemia, Feeding difficulties in infancy, Diarrhea, Leukop...	OMIM:229050
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome	T lymphocytopenia, Recurrent aspiration pneumonia, Hepatomegaly, Portal hypertension, Hepatosplen...	ORPHA:79124
Isolated Osteopoikilosis	Syndactyly, Abnormally ossified vertebrae, Increased bone mineral density, Abnormal pelvis bone m...	ORPHA:166119
Proteasome-Associated Autoinflammatory Syndrome 2	Increased CD4:CD8 ratio, Lipodystrophy, Lymphadenopathy, B lymphocytopenia, Clinodactyly, Failure...	OMIM:618048
Lymphoproliferative Syndrome, X-Linked, 2	Hepatomegaly, Pancytopenia, Aplastic anemia, Acne, Recurrent skin infections, Erythema nodosum, S...	OMIM:300635
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia	Pancytopenia, Generalized lymphadenopathy, Impaired neutrophil chemotaxis, Cellulitis, Lymphadeni...	OMIM:618986
Aggressive Systemic Mastocytosis	Anorexia, Neutropenia, Portal hypertension, Abdominal pain, Leukocytosis, Osteoporosis, Hepatospl...	ORPHA:98850
Burkitt Lymphoma	Abnormality of the spleen, Abnormality of the pancreas, Abnormal lymph node morphology, Abnormali...	ORPHA:543
Congenital Toxoplasmosis	Hepatomegaly, Cardiomegaly, Jaundice, Diarrhea, Lymphadenopathy, Anemia, Intrauterine growth reta...	ORPHA:858
Immunodeficiency 46	Intermittent thrombocytopenia, Chronic diarrhea, Neutropenia, Decreased circulating antibody leve...	OMIM:616740
Agammaglobulinemia, X-Linked	T lymphocytopenia, Conjunctivitis, Decreased circulating IgE, Neutropenia, Decreased circulating ...	OMIM:300755
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity	Hemolytic anemia, Autoimmune hemolytic anemia, Psoriasiform dermatitis, Decreased proportion of C...	OMIM:606367
Wiskott-Aldrich Syndrome 2	Decreased proportion of CD8-positive T cells, Thrombocytopenia	OMIM:614493
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency	Severe B lymphocytopenia, Sinusitis, Hepatomegaly, Autoimmune thrombocytopenia, Chronic diarrhea,...	OMIM:102700
Leukocyte Adhesion Deficiency, Type Iii	Hepatomegaly, Extramedullary hematopoiesis, Splenomegaly, Leukocytosis, Hepatosplenomegaly, Abnor...	OMIM:612840
Cyanosis, Transient Neonatal	Reticulocytosis, Methemoglobinemia, Anemia	OMIM:613977
Neutropenia, Severe Congenital, 2, Autosomal Dominant	Monocytosis, B lymphocytopenia, Neutropenia	OMIM:613107
Osteopetrosis, Autosomal Recessive 2	Pancytopenia, Extramedullary hematopoiesis, Osteomyelitis, Recurrent fractures, Mandibular osteom...	OMIM:259710
Immunodeficiency, Common Variable, 13	Acute lymphoblastic leukemia, Pancytopenia, B lymphocytopenia	OMIM:616873
Immunodeficiency 85 And Autoimmunity	Decreased circulating IgG level, Tube feeding, Eczema, Chronic diarrhea, Oligoarthritis, Growth d...	OMIM:619510
Coproporphyria, Hereditary	Hepatomegaly, Abdominal pain, Splenomegaly, Jaundice, Diarrhea, Vomiting, Constipation	OMIM:121300
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency	Eosinophilia, Autoimmune thrombocytopenia, Increased circulating IgA level, Decreased proportion ...	ORPHA:169154
Osteopetrosis, Autosomal Recessive 5	Hepatomegaly, Pancytopenia, Extramedullary hematopoiesis, Increased bone mineral density, Microgn...	OMIM:259720
Sclerosteosis	Craniofacial hyperostosis, Increased bone mineral density, Finger syndactyly, 2-3 finger syndacty...	ORPHA:3152
Congenital Amegakaryocytic Thrombocytopenia	Thrombocytopenia, Abnormal hemoglobin, Anemia	ORPHA:3319
Tularemia	Brain abscess, Skin rash, Pneumonia, Erythema nodosum, Mediastinal lymphadenopathy, Leukocytosis,...	ORPHA:3392
Niemann-Pick Disease, Type A	Hepatomegaly, Failure to thrive, Bone-marrow foam cells, Microcytic anemia, Feeding difficulties ...	OMIM:257200
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia	Decreased circulating IgG level, Hepatomegaly, Recurrent skin infections, Short stature, Postnata...	OMIM:620210
Combined Immunodeficiency Due To Zap70 Deficiency	Recurrent bacterial skin infections, Autoimmune hemolytic anemia, Skin rash, Eosinophilia, Pneumo...	ORPHA:911
Hyperparathyroidism, Transient Neonatal	Osteopenia, Inguinal hernia, Short femur, Hyperparathyroidism, Metaphyseal spurs, Recurrent fract...	OMIM:618188
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency	Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc...	ORPHA:70593
Boutonneuse Fever	Maculopapular exanthema, Skin rash, Abdominal pain, Cervical lymphadenopathy, Diarrhea, Lymphaden...	ORPHA:83313
Familial Cold Autoinflammatory Syndrome 2	Skin rash, Abdominal pain, Erythema nodosum, Splenomegaly, Leukocytosis, Lymphadenopathy, Arthrit...	OMIM:611762
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome	Failure to thrive in infancy, Small for gestational age, Decreased proportion of CD8-positive T c...	OMIM:617241
Leukodystrophy, Hypomyelinating, 24	Flexion contracture, B lymphocytopenia	OMIM:619851
Omenn Syndrome	Hepatomegaly, Eosinophilia, Pneumonia, Splenomegaly, Leukocytosis, Chronic diarrhea, Thyroiditis,...	ORPHA:39041
Mevalonic Aciduria	Normocytic hypoplastic anemia, Skin rash, Ataxia, Short stature, Fluctuating splenomegaly, Fluctu...	OMIM:610377
Immunodeficiency With Hyper-Igm, Type 1	Decreased circulating IgE, Neutropenia, Decreased circulating IgG level, Hemolytic anemia, Hepato...	OMIM:308230
Purine Nucleoside Phosphorylase Deficiency	Autoimmune hemolytic anemia, Sinusitis, Ataxia, Pneumonia, Pure red cell aplasia, Autoimmune thro...	OMIM:613179
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase	Splenomegaly, Recurrent pancreatitis, Abdominal pain	OMIM:118830
Agammaglobulinemia 2, Autosomal Recessive	Recurrent pneumonia, Abnormal T cell morphology, Agammaglobulinemia, Decreased circulating total ...	OMIM:613500
Hemophagocytic Lymphohistiocytosis, Familial, 3	Reduced natural killer cell activity, Hepatosplenomegaly, Hemophagocytosis, Granulocytopenia, Anemia	OMIM:608898
Buschke-Ollendorff Syndrome	Joint stiffness, Connective tissue nevi, Lower limb asymmetry, Osteopoikilosis, Flexion contracture	OMIM:166700
Autoinflammatory-Pancytopenia Syndrome	Pancytopenia, Membranoproliferative glomerulonephritis, Chilblains, Intestinal inflammation, Chro...	OMIM:619858
Immunodeficiency 15B	Chronic diarrhea, Decreased circulating antibody level, Agammaglobulinemia, Monocytosis, Chronic ...	OMIM:615592
Squamous Cell Carcinoma Of The Esophagus	Nausea and vomiting, Feeding difficulties in infancy, Clinodactyly of the 5th toe, Lymphadenopathy	ORPHA:99977
Ivic Syndrome	Hypoplasia of the ulna, Short femur, Limited interphalangeal movement, Limited elbow movement, Ab...	OMIM:147750
Infantile Sialic Acid Storage Disease	Osteopenia, Hepatomegaly, Failure to thrive, Cardiomegaly, Splenomegaly, Abnormal foot morphology...	OMIM:269920
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism	Splenomegaly, Jaundice, Nonspherocytic hemolytic anemia	OMIM:206400
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-	Nausea and vomiting, Hepatomegaly, Anorexia, Abdominal pain, Splenomegaly, Feeding difficulties, ...	ORPHA:79312
Niemann-Pick Disease, Type B	Hepatomegaly, Short stature, Bone-marrow foam cells, Thrombocytopenia, Splenomegaly, Sea-blue his...	OMIM:607616
Immunodeficiency 70	Decreased circulating total IgG, Decreased circulating antibody level, Decreased circulating tota...	OMIM:618969
Good Syndrome	Abnormal leukocyte morphology, Sinusitis, Recurrent skin infections, Mediastinal lymphadenopathy,...	ORPHA:169105
Congenital Atransferrinemia	Abnormality of the pancreas, Hypothyroidism, Anemia, Arthritis	ORPHA:1195
Immunodeficiency By Defective Expression Of Mhc Class Ii	Sinusitis, Abnormal CD4:CD8 ratio, Acute otitis media, Gait ataxia, T lymphocytopenia, Neutropeni...	ORPHA:572
Lymphoproliferative Syndrome, X-Linked, 1	Hepatomegaly, Pancytopenia, Aplastic anemia, Dysgammaglobulinemia, Reduced natural killer cell ac...	OMIM:308240
Metaphyseal Dysplasia, Braun-Tinschert Type	Osteopenia, Broad tibial metaphyses, Tibial bowing, Humerus varus, Exostoses of the ulna, Scleros...	ORPHA:85188
Specific Granule Deficiency 2	Osteopenia, Absent neutrophil specific granules, Sandal gap, Anemia, Amelogenesis imperfecta, Neu...	OMIM:617475
Eiken Syndrome	Abnormal trabecular bone morphology, Epiphyseal dysplasia, Abnormal acetabulum morphology, Absenc...	ORPHA:79106
Autoinflammation With Episodic Fever And Lymphadenopathy	Hepatomegaly, Microcytic anemia, Abdominal pain, Splenomegaly, Recurrent tonsillitis, Lymphadenop...	OMIM:618852
Rhizomelic Chondrodysplasia Punctata, Type 3	Short humerus, Short femur, Rhizomelia, Epiphyseal stippling, Failure to thrive	OMIM:600121
Reticular Dysgenesis	Leukopenia, Congenital agranulocytosis, Lymphopenia, Hypoplasia of the thymus	OMIM:267500
Leishmaniasis	Hepatomegaly, Pancytopenia, Abnormal macrophage morphology, Anorexia, Splenomegaly, Lymphadenopat...	ORPHA:507
Autoimmune Lymphoproliferative Syndrome	Hepatomegaly, Autoimmune hemolytic anemia, Eosinophilia, Chronic noninfectious lymphadenopathy, A...	OMIM:601859
Osteopetrosis, Autosomal Recessive 9	Increased bone mineral density, Hyperparathyroidism, Cortical sclerosis, Osteopetrosis, Pathologi...	OMIM:620366
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy	Impaired lymphocyte transformation with phytohemagglutinin, T lymphocytopenia, B lymphocytopenia,...	OMIM:619313
Bone Dysplasia, Lethal Holmgren Type	Nausea and vomiting, Metaphyseal dysplasia, Hepatomegaly, Rhizomelia, Talipes, Micromelia, Abnorm...	ORPHA:1842
Melorheostosis With Osteopoikilosis	Complete duplication of the distal phalanges of the hand, Osteopoikilosis, Abnormal cortical bone...	ORPHA:1879
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked	Eosinophilia, Eczema, Autoimmune thrombocytopenia, Glomerulonephritis, Increased circulating IgE ...	OMIM:304790
Autosomal Dominant Severe Congenital Neutropenia	Acute myeloid leukemia, Osteopenia, Aplastic anemia, Eosinophilia, Abdominal pain, Cellulitis, Di...	ORPHA:486
Camurati-Engelmann Disease	Reduced subcutaneous adipose tissue, Waddling gait, Increased bone mineral density, Poor appetite...	OMIM:131300
X-Linked Agammaglobulinemia	Recurrent cutaneous abscess formation, Sinusitis, Osteomyelitis, Abnormality of the tonsils, Skin...	ORPHA:47
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis	Abnormality of the tonsils, Decreased proportion of CD8-positive T cells, Abnormal thymus morphol...	OMIM:611926
Rosaï-Dorfman Disease	Osteolysis, Anemia, Lymphadenopathy	ORPHA:158014
Anemia, Congenital Dyserythropoietic, Type Ib	Reticulocytosis, Hepatomegaly, Short stature, Anisocytosis, Anemia of inadequate production, Sple...	OMIM:615631
Autoinflammation, Panniculitis, And Dermatosis Syndrome	Neutrophilia, Skin rash, Increased circulating IgA level, Abdominal pain, Leukocytosis, Chronic d...	OMIM:617099
Immunodeficiency 32B	Hepatomegaly, Neutrophilia, Sinusitis, Eosinophilia, Pneumonia, Splenomegaly, Bronchiectasis, Ane...	OMIM:226990
Immunodeficiency 92	Hepatomegaly, Osteomyelitis, Cholangitis, Pneumonia, Leukocytosis, Chronic diarrhea, Decreased pr...	OMIM:619652
Polycythemia Vera	Gastrointestinal hemorrhage, Splenomegaly, Leukocytosis, Increased hemoglobin, Increased red bloo...	OMIM:263300
Myalgia-Eosinophilia Syndrome Associated With Tryptophan	Arthritis, Lymphopenia, Eosinophilia, Limitation of joint mobility	ORPHA:2582
Diffuse Cutaneous Mastocytosis	Gastrointestinal hemorrhage, Hepatomegaly, Abdominal pain, Abnormality of the spleen, Diarrhea, M...	ORPHA:79456
Diamond-Blackfan Anemia 3	Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume, Reticulocytopenia	OMIM:610629
Immunodeficiency, Common Variable, 3	Decreased proportion of class-switched memory B cells, Decreased circulating total IgM, Reduced i...	OMIM:613493
Hyper-Igd Syndrome	Neutrophilia, Skin rash, Increased circulating IgA level, Abdominal pain, Splenomegaly, Leukocyto...	OMIM:260920
Generalized Eruptive Histiocytosis	Leukemia, Hypereosinophilia, Lymphadenopathy, Histiocytosis	ORPHA:157991
Cd8 Deficiency, Familial	Absence of CD8-positive T cells	OMIM:608957
Acquired Idiopathic Sideroblastic Anemia	Normocytic anemia, Acute myeloid leukemia, Pancytopenia, Hepatomegaly, Anemia of inadequate produ...	ORPHA:75564
Erythroleukemia, Familial, Susceptibility To	Acute myeloid leukemia, Hepatomegaly, Splenomegaly, Anemia, Erythroid hyperplasia, Leukemia, Thro...	OMIM:133180
Lymphoproliferative Syndrome 1	Hepatomegaly, Pancytopenia, Autoimmune hemolytic anemia, Stomatitis, Autoimmune thrombocytopenia,...	OMIM:613011
Ebola Hemorrhagic Fever	Gastrointestinal hemorrhage, Acute pancreatitis, Maculopapular exanthema, Poor appetite, Abdomina...	ORPHA:319218
Agammaglobulinemia 10, Autosomal Dominant	Transient neutropenia, Agammaglobulinemia, Decreased circulating total IgM, Recurrent sinusitis, ...	OMIM:619707
Combined Immunodeficiency Due To Dock8 Deficiency	T lymphocytopenia, B lymphocytopenia	ORPHA:217390
Roifman Syndrome	Hip contracture, Epiphyseal dysplasia, Eosinophilia, Delayed proximal femoral epiphyseal ossifica...	ORPHA:353298
Classic Galactosemia	Hepatomegaly, Ataxia, Postural tremor, Abnormal erythrocyte enzyme level, Cryptorchidism, Jaundic...	ORPHA:79239
Neutropenia, Severe Congenital, 9, Autosomal Dominant	Splenomegaly	OMIM:619813
Cold Agglutinin Disease	Nausea and vomiting, Hemolytic anemia, Hepatomegaly, Splenomegaly, Diarrhea, Lymphadenopathy	ORPHA:56425
Granulomatous Disease, Chronic, Autosomal Recessive, 5	Hemolytic anemia, Acute pancreatitis, Short stature, Eczema, Abscess, Perianal abscess, Splenomeg...	OMIM:618935
Immunodeficiency 93 And Hypertrophic Cardiomyopathy	Broad-based gait, Bronchiectasis, Decreased proportion of class-switched memory B cells, Agammagl...	OMIM:619705
Endosteal Hyperostosis, Worth Type	Craniofacial hyperostosis, Generalized osteosclerosis, Clavicular sclerosis, Abnormal cortical bo...	ORPHA:2790
Proteasome-Associated Autoinflammatory Syndrome 5	Splenomegaly, Skin rash, Hepatomegaly	OMIM:619175
Immunodeficiency, Common Variable, 7	Splenomegaly, Chronic (near) absent circulating IgG4, Chronic diarrhea, Reduced isohemagglutinin ...	OMIM:614699
Acromesomelic Dysplasia 2A	Hypoplasia of the ulna, Short humerus, Short femur, Aplasia/Hypoplasia of the patella, Postaxial ...	OMIM:200700
Epidermodysplasia Verruciformis, Susceptibility To, 5	T lymphocytopenia, Lymphopenia	OMIM:618309
Cholesteryl Ester Storage Disease	Acute hepatic failure, Bone-marrow foam cells, Leukopenia, Hepatic fibrosis, Vomiting, Hepatic st...	OMIM:278000
Hyperostosis Corticalis Generalisata	Generalized osteosclerosis, Abnormal cortical bone morphology, Cranial hyperostosis, Diaphyseal t...	ORPHA:3416
Classic Mycosis Fungoides	Hepatomegaly, Skin rash, Eczema, Abnormal eyelid morphology, Splenomegaly, Lymphadenopathy, Abnor...	ORPHA:2584
Immunodeficiency 11B With Atopic Dermatitis	Pneumonia, Eosinophilia, Increased circulating IgE level, Chronic diarrhea, Atopic dermatitis, Br...	OMIM:617638
Corticosteroid-Sensitive Aseptic Abscess Syndrome	Brain abscess, Neutrophilia, Liver abscess, Abdominal pain, Abnormality of the pancreas, Diarrhea...	ORPHA:54251
Immunodeficiency 54	Hepatomegaly, Short stature, Postnatal growth retardation, Splenomegaly, Lymphadenopathy, Adrenoc...	OMIM:609981
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome	Reticulocytosis, HbS hemoglobin, Asplenia, Splenomegaly, Splenic infarction, Hypochromic microcyt...	ORPHA:251380
Osteopetrosis, Autosomal Dominant 2	Recurrent fractures, Mandibular osteomyelitis, Generalized osteosclerosis, Fractures of the long ...	OMIM:166600
Autoinflammatory Disease, Systemic, X-Linked	Anterior uveitis, Complete or near-complete absence of specific antibody response to unconjugated...	OMIM:301081
Diastrophic Dysplasia	Increased bone mineral density, Bowing of the long bones, Camptodactyly of finger, Proximal place...	ORPHA:628
Lipodystrophy-Intellectual Disability-Deafness Syndrome	Osteopenia, Dense metaphyseal bands, Small for gestational age, Generalized lipodystrophy, Slende...	ORPHA:50811
Cog7-Cdg	Hepatomegaly, Small for gestational age, Micrognathia, Long fingers, Jaundice, Diarrhea, Abnormal...	ORPHA:79333
Hyperbilirubinemia, Shunt, Primary	Reticulocytosis, Hepatomegaly, Anemia of inadequate production, Splenomegaly, Jaundice, Erythroid...	OMIM:237800
Lymphoproliferative Syndrome 2	Hepatomegaly, Pancytopenia, Aplastic anemia, Splenomegaly, Recurrent pneumonia, EBV encephalitis,...	OMIM:615122
Dominant Beta-Thalassemia	Extramedullary hematopoiesis, Anisocytosis, Hepatic fibrosis, Hypothyroidism, Hypoparathyroidism,...	ORPHA:231226
Roifman Syndrome	Hepatomegaly, Short stature, Eczema, Eosinophilia, Postnatal growth retardation, Splenomegaly, Re...	OMIM:616651
Immunodeficiency 16	Splenomegaly, Pancytopenia, Coombs-positive hemolytic anemia	OMIM:615593
Typhoid	Gastrointestinal hemorrhage, Hepatomegaly, Skin rash, Ataxia, Abdominal pain, Splenomegaly, Diarr...	ORPHA:99745
Bone Marrow Failure Syndrome 4	Short stature, Eczema, Rhizomelia, Decreased circulating antibody level, Anemia, Leukopenia, Bone...	OMIM:618116
Flynn-Aird Syndrome	Increased bone mineral density, Ataxia, Joint stiffness, Osteoporosis, Increased bone density wit...	OMIM:136300
Sweet Syndrome	Acute myeloid leukemia, Predominantly dermal neutrophilic infiltrate, Myositis, Neutrophilia, Acn...	ORPHA:3243
Kerion Celsi	Recurrent cutaneous abscess formation, Lymphadenopathy	ORPHA:499
Immunodeficiency 55	Absent natural killer cells, Recurrent skin infections, Eczema, Short stature, Postnatal growth r...	OMIM:617827
T-Cell Immunodeficiency With Thymic Aplasia	Failure to thrive, Aplasia of the thymus, Hepatosplenomegaly, T lymphocytopenia, Abnormally low T...	OMIM:242700
Wolman Disease	Nausea and vomiting, Hepatomegaly, Bone-marrow foam cells, Splenomegaly, Abdominal distention, Ma...	ORPHA:75233
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type	Osteopenia, Short femur, Fractured radius, Small for gestational age, Decreased fibular diameter,...	OMIM:616897
Alpha-Thalassemia	Hemolytic anemia, Abnormal hemoglobin, Microcytic anemia, Hypersplenism, Splenomegaly, Anemia	ORPHA:846
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency	Impaired lymphocyte transformation with phytohemagglutinin, Decreased circulating IgG level, Abse...	ORPHA:35078
Griscelli Syndrome	Hepatomegaly, Abnormal eyebrow morphology, Ataxia, Short stature, Abnormality of neutrophils, Abn...	ORPHA:381
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis	Lymphopenia, Autoimmune hemolytic anemia, Plasmacytosis	OMIM:247800
Otopalatodigital Syndrome Type 1	Increased bone mineral density, Bowing of the long bones, Sandal gap, Short hallux, Proximal plac...	ORPHA:90650
Proteus Syndrome	Splenomegaly, Facial hyperostosis, Multiple lipomas, Hypertrophy of skin of soles, Lipoma, Calvar...	OMIM:176920
Legionnaires Disease	Nausea and vomiting, Pericarditis, Ataxia, Anorexia, Abdominal pain, Splenomegaly, Jaundice, Myoc...	ORPHA:549
Cinca Syndrome	Skin rash, Eosinophilia, Leukocytosis, Uveitis, Lymphadenopathy, Hepatosplenomegaly, Arthritis, G...	OMIM:607115
Classic Hodgkin Lymphoma	Hepatomegaly, Ataxia, Anorexia, Poor appetite, Splenomegaly, Osteolysis, Lymphadenopathy, Weight ...	ORPHA:391
Indolent Systemic Mastocytosis	Hepatomegaly, Splenomegaly, Osteoporosis, Lymphadenopathy, Increased proportion of CD25+ mast cel...	ORPHA:98848
Progeria-Short Stature-Pigmented Nevi Syndrome	Osteopenia, Neoplasm of the pancreas, Brachydactyly, Multiple joint contractures, Broad-based gai...	ORPHA:2959
Autosomal Agammaglobulinemia	Epicanthus, Sinusitis, Osteomyelitis, Skin rash, Recurrent skin infections, Diarrhea, Hepatitis, ...	ORPHA:33110
Glycogen Storage Disease Ixb	Hepatomegaly, Short stature, Splenomegaly, Diarrhea, Growth delay, Increased hepatic glycogen con...	OMIM:261750
Methylmalonic Aciduria And Homocystinuria, Cblj Type	Inguinal hernia, Micrognathia, Cryptorchidism, Feeding difficulties, Normochromic anemia, Gastroe...	OMIM:614857
Pyknoachondrogenesis	Increased bone mineral density, Stillbirth	OMIM:265880
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia	Sinusitis, Short stature, Pneumonia, Decreased response to growth hormone stimulation test, Enter...	OMIM:307200
Acrocapitofemoral Dysplasia	Micromelia, Short proximal phalanx of thumb, Coxa vara, Short palm, Hypoplastic iliac wing, Short...	OMIM:607778
Hypereosinophilic Syndrome, Idiopathic	Myeloproliferative disorder, Splenomegaly, Eosinophilia, Hepatomegaly	OMIM:607685
Babesiosis	Nausea and vomiting, Hemolytic anemia, Hepatomegaly, Anorexia, Splenomegaly, Thrombocytopenia, Ja...	ORPHA:108
Osteosclerosis-Ichthyosis-Premature Ovarian Failure Syndrome	Increased bone mineral density, Pedal edema	ORPHA:75325
Glut1 Deficiency Syndrome 2	Hemolytic anemia, Reticulocytosis, Ataxia, Splenomegaly, Choreoathetosis	OMIM:612126
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies	Osteopenia, Ataxia, Diarrhea, Nasogastric tube feeding, Abnormal T cell subset distribution, Clin...	ORPHA:221139
Poems Syndrome	Sclerosis of hand bone, Lipodystrophy, Sclerosis of foot bone, Metaphyseal sclerosis, Lymphadenop...	ORPHA:2905
Immunodeficiency, Common Variable, 14	Psoriasiform dermatitis, Chronic diarrhea, Decreased proportion of class-switched memory B cells,...	OMIM:617765
Immunodeficiency 26 With Or Without Neurologic Abnormalities	T lymphocytopenia, B lymphocytopenia, Recurrent aphthous stomatitis, Overlapping fingers, Abnorma...	OMIM:615966
Cinca Syndrome	Nausea and vomiting, Hepatomegaly, Abnormality of neutrophils, Splenomegaly, Leukocytosis, Reduce...	ORPHA:1451
Galactose Epimerase Deficiency	Nausea and vomiting, Hepatomegaly, Splenomegaly, Jaundice, Feeding difficulties, Growth delay	ORPHA:79238
Eosinophilic Gastroenteritis	Allergic rhinitis, Eosinophilia, Abdominal pain, Leukocytosis, Diarrhea, Atopic dermatitis, Dysph...	ORPHA:2070
Hyper-Ige Syndrome 4B, Autosomal Recessive, With Recurrent Infections	Eosinophilia, Craniosynostosis, Chronic diarrhea, Clubbing, Hip dislocation, Joint contracture of...	OMIM:618523
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative	Impaired lymphocyte transformation with phytohemagglutinin, Absent natural killer cells, Intestin...	OMIM:600802
Ossification Of The Posterior Longitudinal Ligament Of Spine	Ectopic ossification, Increased bone mineral density	OMIM:602475
Gamma-Heavy Chain Disease	Hepatomegaly, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Thrombocyto...	ORPHA:100026
Beta-Thalassemia Major	Extramedullary hematopoiesis, Hepatic fibrosis, Hypothyroidism, Hypoparathyroidism, Hepatomegaly,...	ORPHA:231214
Immunodeficiency 22	Pericarditis, Abscess, Diarrhea, Protracted diarrhea, Anemia, Decreased circulating total IgM, As...	OMIM:615758
Majeed Syndrome	Inflammatory abnormality of the skin, Osteomyelitis, Skin rash, Anemia of inadequate production, ...	OMIM:609628
Kimura Disease	Lymphadenopathy, Abnormal salivary gland morphology, Eosinophilia, Follicular hyperplasia	ORPHA:482
Sea-Blue Histiocyte Disease	Splenomegaly, Thrombocytopenia, Cirrhosis, Sea-blue histiocytosis	OMIM:269600
Felty Syndrome	Hepatomegaly, Splenomegaly, Cellulitis, Limitation of joint mobility, Osteolysis, Synovitis, Lymp...	ORPHA:47612
Immunodeficiency 25	Autoimmune hemolytic anemia, Eosinophilia, Increased circulating IgA level, Recurrent pneumonia, ...	OMIM:610163
Cyclic Neutropenia	Cyclic neutropenia, Perianal abscess, Cervical lymphadenopathy, Peritonitis, Recurrent tonsilliti...	ORPHA:2686
Osteomesopyknosis	Increased bone mineral density	OMIM:166450
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy	Hepatomegaly, Intestinal obstruction, Abdominal pain, Diarrhea, Decreased circulating antibody le...	OMIM:226300
Combined Saposin Deficiency	Splenomegaly, Feeding difficulties, Hepatomegaly	OMIM:611721
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease	Acute myeloid leukemia, Pancytopenia, Hepatocellular carcinoma, Thrombocytopenia, Splenomegaly, H...	ORPHA:158057
Selective Igm Deficiency	Fasciitis, Lymphadenitis, Paraproteinemia, Recurrent cutaneous fungal infections, Decreased propo...	ORPHA:331235
Secretory Component Deficiency	Chronic intestinal candidiasis, Intermittent diarrhea, Secretory IgA deficiency	OMIM:269650
Lipodystrophy, Generalized, With Mental Retardation, Deafness, Short Stature, And Slender Bones	Osteopenia, Failure to thrive, Small for gestational age, Congenital generalized lipodystrophy, G...	OMIM:608154
Dentin Dysplasia	Increased bone mineral density, Abnormal dental enamel morphology	ORPHA:1653
Spondyloepiphyseal Dysplasia Congenita	Waddling gait, Abnormally ossified vertebrae, Short femur, Limited elbow movement, Micrognathia, ...	ORPHA:94068
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome	Head titubation, Diarrhea, Vestibular areflexia, Hypochromic microcytic anemia, Vomiting, Osteope...	ORPHA:3240
Neuraminidase Deficiency	Hepatomegaly, Inguinal hernia, Bone-marrow foam cells, Cardiomegaly, Splenomegaly, Vacuolated lym...	OMIM:256550
Pycnodysostosis	Joint laxity, Increased bone mineral density, Rhizomelia, Decreased response to growth hormone st...	ORPHA:763
Rhizomelic Dysplasia, Ain-Naz Type	Short humerus, Short femur, Hypoplasia of the femoral head, Rhizomelia, Wide distal femoral metap...	OMIM:619598
Immunodeficiency 31C	Impaired lymphocyte transformation with phytohemagglutinin, Hepatomegaly, Autoimmune hemolytic an...	OMIM:614162
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1	Epicanthus, Sinusitis, Short stature, Pneumonia, Diarrhea, Bronchiectasis, T lymphocytopenia, Inc...	OMIM:242860
Proteasome-Associated Autoinflammatory Syndrome 3	Hepatomegaly, Failure to thrive, Lipodystrophy, Splenomegaly, Flexion contracture, Lymphadenopath...	OMIM:617591
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome	T lymphocytopenia, Infectious encephalitis, Short stature, Autoimmune thrombocytopenia, Hepatitis...	ORPHA:391487
Systemic Mastocytosis With Associated Hematologic Neoplasm	Normocytic anemia, Myeloid leukemia, Nausea, Hepatomegaly, Neutrophilia, Abdominal pain, Leukocyt...	ORPHA:98849
Immunodeficiency 91 And Hyperinflammation	Acute hepatic failure, Hepatomegaly, Neutrophilia, Membranoproliferative glomerulonephritis, Macu...	OMIM:619644
Alpha-Thalassemia-Myelodysplastic Syndrome	Microcytic anemia, Splenomegaly, Acute leukemia, Neutropenia, HbH hemoglobin, Thrombocytopenia	ORPHA:231401
Cerebroretinal Microangiopathy With Calcifications And Cysts 2	Osteopenia, Gastrointestinal hemorrhage, Pancytopenia, Dystonia, Ataxia, Portal hypertension, Hep...	OMIM:617341
Osteomesopyknosis	Increased bone mineral density, Abnormal cortical bone morphology	ORPHA:2777
Fragile Site, Distamycin A Type, Rare, Fra(16)(Q22.1)	Abnormal lymph node morphology	OMIM:136580
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency	Reticulocytosis, Anisocytosis, Abnormal erythrocyte morphology, Reduced red cell pyruvate kinase ...	ORPHA:766
Immunodeficiency With Hyper-Igm, Type 4	Autoimmune hemolytic anemia, Osteomyelitis, Absence of lymph node germinal center, Autoimmune thr...	OMIM:608184
Nodular Lymphocyte Predominant Hodgkin Lymphoma	Hepatomegaly, Anorexia, Splenomegaly, Hyperhidrosis, Lymphadenopathy	ORPHA:86893
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency	Hepatomegaly, Eczema, Abdominal pain, Splenomegaly, Leukocytosis, Lymphadenitis, Chronic diarrhea...	OMIM:615895
Beemer-Ertbruggen Syndrome	Cryptorchidism, Increased bone mineral density, Thrombocytopenia	ORPHA:1237
Adenocarcinoma Of The Esophagus	Nausea and vomiting, Feeding difficulties in infancy, Obesity, Lymphadenopathy, Gastroesophageal ...	ORPHA:99976
Encephalopathy Due To Prosaposin Deficiency	Splenomegaly, Hepatomegaly	ORPHA:139406
Immunodeficiency 82 With Systemic Inflammation	Decreased proportion of naive T cells, Anorexia, T lymphocytopenia, Colitis, Vomiting, Intractabl...	OMIM:619381
Heme Oxygenase 1 Deficiency	Hemolytic anemia, Hepatomegaly, Increased circulating interleukin 6 concentration, Asplenia, Cerv...	OMIM:614034
Metaphyseal Modeling Abnormality, Skin Lesions, And Spastic Paraplegia	Increased bone mineral density	OMIM:250500
Rothmund-Thomson Syndrome Type 1	Osteopenia, Aplastic anemia, Patellar hypoplasia, Vomiting, Neutropenia, Short phalanx of finger,...	ORPHA:221008
Sézary Syndrome	Hepatomegaly, Abnormal immunoglobulin level, Splenomegaly, Lymphadenopathy, Erythroderma, Abnorma...	ORPHA:3162
12q14 microdeletion syndrome	Osteopoikilosis	DECIPHER:76
Farber Lipogranulomatosis	Osteolysis involving bones of the feet, Hyperextensibility of the finger joints, Hepatomegaly, Sp...	OMIM:228000
Immunodeficiency 40	Hepatomegaly, Recurrent pneumonia, Chronic diarrhea, Eosinophilic granuloma, Growth delay, T lymp...	OMIM:616433
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis	Hepatomegaly, Skin rash, Allergic rhinitis, Anemia of inadequate production, Splenomegaly, Jaundi...	OMIM:612714
T-Cell Immunodeficiency With Thymic Aplasia	Decreased proportion of naive T cells, Aplasia of the thymus, Sinusitis, Pneumonia, Hypothyroidis...	ORPHA:83471
Anemia, Sideroblastic, 2, Pyridoxine-Refractory	Sideroblastic anemia, Hypochromia, Decreased mean corpuscular volume, Anemia	OMIM:205950
Weismann-Netter Syndrome	Bowing of the long bones, Abnormal morphology of ulna, Abnormality of the humerus, Abnormal tibia...	ORPHA:3344
Rothmund-Thomson Syndrome Type 2	Osteopenia, Aplastic anemia, Patellar hypoplasia, Vomiting, Neutropenia, Short phalanx of finger,...	ORPHA:221016
Thiamine-Responsive Megaloblastic Anemia Syndrome	Short stature, Anorexia, Megaloblastic anemia, Diarrhea, Lethargy, Thrombocytopenia	ORPHA:49827
Graft Versus Host Disease	Fasciitis, Myositis, Maculopapular exanthema, Pneumonia, Inflammatory abnormality of the skin, Ab...	ORPHA:39812
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin	Oval macrocytosis, Anisocytosis, Poikilocytosis, Anemia of inadequate production	OMIM:603529
Cholesteryl Ester Storage Disease	Nausea and vomiting, Hepatomegaly, Splenomegaly, Jaundice, Diarrhea, Cirrhosis, Hepatic failure	ORPHA:75234
Hepatic Venoocclusive Disease With Immunodeficiency	Abnormality of the liver, Absence of lymph node germinal center	OMIM:235550
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia	Macrocytic anemia, Pancytopenia, Eczema, Anemia of inadequate production, Megaloblastic anemia, R...	OMIM:617780
Hereditary Spherocytosis	Reticulocytosis, Hepatomegaly, Spontaneous hemolytic crises, Extramedullary hematopoiesis, Maculo...	ORPHA:822
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2	Chronic gastritis, Increased circulating interleukin 6 concentration, Skin rash, Abdominal pain, ...	OMIM:301074
Mast Cell Sarcoma	Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Weight loss, Mastocytosis	ORPHA:66661
Sandhoff Disease	Splenomegaly, Ataxia, Hepatomegaly	ORPHA:796
Immunodeficiency 49	Impaired lymphocyte transformation with phytohemagglutinin, Eosinophilia, T lymphocytopenia, Umbi...	OMIM:617237
Whipple Disease	Gastrointestinal hemorrhage, Hepatomegaly, Myositis, Pericarditis, Ataxia, Anorexia, Abdominal pa...	ORPHA:3452
Refractory Celiac Disease	Normocytic anemia, Macrocytic anemia, Microcytic anemia, Abdominal pain, Increased proportion of ...	ORPHA:398063
Transcobalamin Ii Deficiency	Hepatomegaly, Macrocytic anemia, Pancytopenia, Ataxia, Erythroid hypoplasia, Diarrhea, Reticulocy...	OMIM:275350
Hypertriglyceridemia, Transient Infantile	Hepatomegaly, Short stature, Splenomegaly, Hepatic fibrosis, Vomiting, Hepatic steatosis	OMIM:614480
Osteosclerosis-Developmental Delay-Craniosynostosis Syndrome	Increased bone mineral density, Craniosynostosis	ORPHA:178377
Aregenerative Anemia	Pancytopenia, Erythroid hypoplasia, Reticulocytopenia, Lymphadenopathy, Bone marrow hypocellulari...	ORPHA:101096
Hereditary Folate Malabsorption	Nausea and vomiting, Pancytopenia, Eosinophilia, Anorexia, Megaloblastic anemia, Diarrhea, Cheili...	ORPHA:90045
Immunodeficiency With Hyper-Igm, Type 3	Absence of lymph node germinal center, Neutropenia	OMIM:606843
Pfapa Syndrome	Nausea and vomiting, Hepatomegaly, Abdominal pain, Splenomegaly, Lymphadenopathy, Arthritis, Infe...	ORPHA:42642
Chondrodysplasia, Blomstrand Type	Micromelia, Micrognathia, Fetal ascites, Generalized osteosclerosis, Squared iliac bones, Flared ...	OMIM:215045
Bone Marrow Failure Syndrome 6	Osteopenia, Persistence of hemoglobin F, Increased mean corpuscular volume, Bone marrow hypocellu...	OMIM:618849
Pediatric Systemic Lupus Erythematosus	Myositis, Skin rash, Abdominal pain, Discoid lupus rash, Abdominal distention, Diarrhea, Malar ra...	ORPHA:93552
Acute Erythroid Leukemia	Pancytopenia, Erythroid hypoplasia, Leukopenia, Bone marrow hypocellularity, Anemia	ORPHA:318
Spondyloepiphyseal Dysplasia Tarda	Abnormality of the tibial plateaux, Osteoarthritis of the distal interphalangeal joint, Limited e...	ORPHA:93284
Cronkhite-Canada Syndrome	Hepatomegaly, Anorexia, Abdominal pain, Splenomegaly, Diarrhea, Aplasia/Hypoplasia of the eyebrow...	ORPHA:2930
Mendelian Susceptibility To Mycobacterial Diseases Due To Partial Irf8 Deficiency	Lymphadenopathy	ORPHA:319600
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay	Sideroblastic anemia, Ataxia, Splenomegaly, Schistocytosis, Hypochromic microcytic anemia, Decrea...	OMIM:616084
Agammaglobulinemia 9, Autosomal Recessive	Thrombocytopenia, Failure to thrive, Absent circulating B cells	OMIM:619693
Rothmund-Thomson Syndrome	Osteopenia, Abnormal trabecular bone morphology, Hypoplasia of the ulna, Broad ulna, Aplastic ane...	ORPHA:2909
Sialidosis Type 2	Hepatomegaly, Inguinal hernia, Ataxia, Tremor, Splenomegaly, Flexion contracture, Osteoporosis, P...	ORPHA:87876
Pediatric-Onset Graves Disease	Episcleritis, Hepatomegaly, Nausea and vomiting, Abnormal eyelid morphology, Keratitis, Splenomeg...	ORPHA:525731
Deafness-Lymphedema-Leukemia Syndrome	Nausea and vomiting, Hepatomegaly, Abnormal neutrophil count, Splenomegaly, Leukocytosis, Acute l...	ORPHA:3226
Sea-Blue Histiocytosis	Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Sea-blue histiocytosis, Blepharitis, Thr...	ORPHA:158029
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome	Increased bone mineral density, Coxa valga, Micrognathia, Wide anterior fontanel, Flat acetabular...	ORPHA:163649
Femoral-Facial Syndrome	Inguinal hernia, Short femur, Micrognathia, Cryptorchidism, Abnormal fibula morphology, Coxa vara...	ORPHA:1988
Congenital Disorder Of Glycosylation, Type Ii	Hepatomegaly, Epicanthus, Short stature, Diarrhea, Upslanted palpebral fissure, Iron deficiency a...	OMIM:607906
Erythrocytosis, Familial, 1	Increased red blood cell mass, Splenomegaly, Increased hematocrit, Increased hemoglobin	OMIM:133100
Immunodeficiency 43	Hypoplasia of the ulna, Lung abscess, Radial bowing, B lymphocytopenia, Reduced natural killer ce...	OMIM:241600
Muckle-Wells Syndrome	Episcleritis, Hepatomegaly, Skin rash, Short stature, Abdominal pain, Splenomegaly, Uveitis, Arth...	ORPHA:575
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0	Nausea and vomiting, Hepatomegaly, Anemia, Choreoathetosis, Growth delay, Neutropenia, Lethargy, ...	ORPHA:289916
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome	Fasciitis, Myositis, Pericarditis, Skin rash, Intestinal obstruction, Abdominal pain, Orchitis, S...	ORPHA:32960
Spondyloenchondrodysplasia With Immune Dysregulation	Metaphyseal dysplasia, Autoimmune thrombocytopenia, Short iliac bones, Metaphyseal sclerosis, Met...	OMIM:607944
Camurati-Engelmann Disease	Anorexia, Feeding difficulties in infancy, Abnormal tibia morphology, Craniofacial osteosclerosis...	ORPHA:1328
Eosinophilia, Familial	Anemia, Leukocytosis, Eosinophilia, Thrombocytopenia	OMIM:131400
Neonatal Severe Primary Hyperparathyroidism	Splenomegaly, Abnormal metaphysis morphology, Recurrent fractures, Hepatomegaly	ORPHA:417
Neutropenia, Severe Congenital, 1, Autosomal Dominant	Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Monocytosis, Increased circul...	OMIM:202700
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Myositis, Secretory diarrhea, Iron deficiency anemia, Tubulointerstitial nephritis, Colitis, Vomi...	ORPHA:37042
Progressive Familial Intrahepatic Cholestasis	Hepatomegaly, Splenomegaly, Jaundice, Cholestasis, Reduced bone mineral density, Failure to thrive	ORPHA:172
Thanatophoric Dysplasia, Glasgow Variant	Anemia, Hepatosplenomegaly	OMIM:273680
Lethal Recessive Chondrodysplasia	Micromelia, Micrognathia, Generalized osteosclerosis, Short long bone, Flared elbow metaphyses, L...	ORPHA:1423
Melorheostosis	Increased bone mineral density, Lower limb asymmetry, Joint stiffness, Atypical scarring of skin,...	ORPHA:2485
Tyrosinemia Type 1	Acute hepatic failure, Hepatomegaly, Splenomegaly, Hepatocellular carcinoma, Rickets of the lower...	ORPHA:882
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To	Acute myeloid leukemia, Refractory anemia, Eczema, Leukopenia, Monocytosis, Bone marrow hypocellu...	OMIM:616871
Hypocomplementemic Urticarial Vasculitis	Episcleritis, Hepatomegaly, Nausea and vomiting, Skin rash, Ataxia, Abdominal pain, Splenomegaly,...	ORPHA:36412
Autoinflammation With Arthritis And Dyskeratosis	Hepatomegaly, Autoimmune hemolytic anemia, Increased circulating IgA level, Splenomegaly, Hypereo...	OMIM:617388
Van Buchem Disease	Increased bone mineral density, Cranial hyperostosis, Thickened cortex of long bones	OMIM:239100
Craniodiaphyseal Dysplasia, Autosomal Dominant	Craniofacial hyperostosis, Craniofacial osteosclerosis, Diaphyseal sclerosis, Cortical sclerosis	OMIM:122860
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome	Limited elbow movement, Micrognathia, Opisthotonus, T lymphocytopenia, Narrow greater sciatic not...	ORPHA:508533
Aicardi-Goutieres Syndrome 4	Hepatomegaly, Pancytopenia, Splenomegaly, Hepatosplenomegaly, Feeding difficulties, Intrauterine ...	OMIM:610333
Dystonia 31	Generalized dystonia, Writer's cramp, Leg dystonia, Arm dystonia, Difficulty walking, Dysphagia, ...	OMIM:619565
Kaposi Sarcoma	Generalized lymphadenopathy, Skin rash, Abnormality of the spleen, Diarrhea, Abnormality of the l...	ORPHA:33276
Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities	Ataxia, Tremor, Obesity, Feeding difficulties, Limb dystonia, Bilateral coxa valga, Intermittent ...	OMIM:620270
Congenital Bile Acid Synthesis Defect Type 1	Gastrointestinal hemorrhage, Hepatomegaly, Splenomegaly, Jaundice, Biliary tract abnormality, Ost...	ORPHA:79301
Primary Intestinal Lymphangiectasia	Decreased circulating IgG level, Peritoneal effusion, Abdominal pain, Chronic diarrhea, Functiona...	ORPHA:90362
Lymphedema, Primary, With Myelodysplasia	Acute myeloid leukemia, Pancytopenia, Tapered finger, Long fingers, Cellulitis, Leukemia, Decreas...	OMIM:614038
Sepsis In Premature Infants	Hepatomegaly, Increased circulating interleukin 6 concentration, Splenomegaly, Leukocytosis, Jaun...	ORPHA:90051
Hemophagocytic Syndrome Associated With An Infection	Hepatomegaly, Pancytopenia, Ataxia, Splenomegaly, Abnormal T cell subset distribution, Abnormal c...	ORPHA:158048
Immunodeficiency 81	Decreased proportion of CD4-positive T cells, Recurrent cutaneous abscess formation, Autoimmune h...	OMIM:619374
Triokinase And Fmn Cyclase Deficiency Syndrome	Hepatomegaly, Broad-based gait, Microcytic anemia, Chronic diarrhea, Hepatic steatosis, Pancreatitis	OMIM:618805
Bone Marrow Failure Syndrome 2	Leukopenia, Thrombocytopenia, Bone marrow hypocellularity, Anemia	OMIM:615715
Vitamin B12-Unresponsive Methylmalonic Acidemia	Nausea and vomiting, Hepatomegaly, Macrocytic anemia, Ataxia, Anemia, Leukopenia, Choreoathetosis...	ORPHA:27
12Q14 Microdeletion Syndrome	Micrognathia, Tremor, Abnormality of the spleen, Osteopoikilosis, Clinodactyly of the 5th finger,...	ORPHA:94063
Gastrointestinal Defects And Immunodeficiency Syndrome 1	Impaired lymphocyte transformation with phytohemagglutinin, Autoimmune hemolytic anemia, Psoriasi...	OMIM:243150
Erdheim-Chester Disease	Nausea and vomiting, Increased bone mineral density, Osteomyelitis, Ataxia, Abdominal pain, Retro...	ORPHA:35687
Dengue Fever	Nausea and vomiting, Hepatomegaly, Gastrointestinal hemorrhage, Skin rash, Abdominal pain, Diarrh...	ORPHA:99828
Congenital Disorder Of Glycosylation, Type Ih	Hepatomegaly, Failure to thrive, Abdominal distention, Diarrhea, Cryptorchidism, Cholestasis, Ane...	OMIM:608104
Mirage Syndrome	Rocker bottom foot, Radial club hand, Cryptorchidism, Chronic diarrhea, Anemia, Leukopenia, Gastr...	OMIM:617053
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor	Bulging epiphyses, Bowing of the long bones, Delayed epiphyseal ossification, Rickets, Genu varum...	OMIM:600785
3-Hydroxy-3-Methylglutaryl-Coa Synthase-2 Deficiency	Hepatomegaly, Diarrhea, Vomiting	OMIM:605911
Erythrocytosis, Familial, 8	Splenomegaly, Increased hematocrit, Polycythemia, Increased hemoglobin	OMIM:222800
American Trypanosomiasis	Hepatomegaly, Skin rash, Abnormal large intestine physiology, Abdominal pain, Splenomegaly, Myoca...	ORPHA:3386
Mitochondrial Neurogastrointestinal Encephalomyopathy	Small intestinal dysmotility, Poor appetite, Abdominal pain, Abdominal distention, Gastrointestin...	ORPHA:298
Osteogenesis Imperfecta, Type Xiii	Angulated humerus, Increased bone mineral density, Arachnodactyly, Recurrent fractures, Joint hyp...	OMIM:614856
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome	Accessory spleen, 11 pairs of ribs, Severe B lymphocytopenia, Craniosynostosis, Tapered finger, P...	OMIM:620005
Mevalonic Aciduria	Splenomegaly, Short stature, Downslanted palpebral fissures, Ataxia	ORPHA:29
Atelosteogenesis Type Ii	Micromelia, Micrognathia, Tracheobronchomalacia, Short phalanx of finger, Hypoplastic cervical ve...	ORPHA:56304
Osteopoikilosis And Dacryocystitis	Osteopoikilosis	OMIM:166705
Galactosemia Iii	Splenomegaly, Jaundice, Vomiting, Hepatomegaly	OMIM:230350
Immunodeficiency 42	Hepatomegaly, Splenomegaly, Recurrent cutaneous fungal infections, Hypoplasia of the thymus, Recu...	OMIM:616622
Cog4-Cdg	Fatal liver failure in infancy, Ataxia, Hepatosplenomegaly, Feeding difficulties, Growth delay, C...	ORPHA:263501
Atelosteogenesis, Type I	Micrognathia, Short metatarsal, Tibial bowing, Knee dislocation, Neonatal death, Vertebral hypopl...	OMIM:108720
Red Cell Phospholipid Defect With Hemolysis	Splenomegaly, Reticulocytosis, Intermittent jaundice	OMIM:179700
Hypothyroidism, Congenital, Nongoitrous, 6	Broad-based gait, Increased T3/T4 ratio, Congenital hypothyroidism, Growth delay, Constipation, I...	OMIM:614450
Ataxia-Pancytopenia Syndrome	Pancytopenia, Ataxia, Unsteady gait, Acute myelomonocytic leukemia, Dysmetria, Anemia, Neutropeni...	OMIM:159550
Desmosterolosis	Increased bone mineral density, Talipes, Micromelia, Micrognathia, Metatarsus adductus, Splenomeg...	ORPHA:35107
Primary Myelofibrosis	Hepatomegaly, Pancytopenia, Extramedullary hematopoiesis, Portal hypertension, Anorexia, Thromboc...	ORPHA:824
Cystic Fibrosis-Gastritis-Megaloblastic Anemia Syndrome	Telecanthus, Gastritis, Folate-unresponsive megaloblastic anemia, Abnormal erythrocyte morphology...	ORPHA:2575
Osteopetrosis, Autosomal Recessive 3	Extramedullary hematopoiesis, Cranial hyperostosis, Diaphyseal sclerosis, Hepatosplenomegaly, Ost...	OMIM:259730
Anemia, Hypochromic Microcytic, With Iron Overload 2	Hepatomegaly, Splenomegaly, Growth delay, Decreased mean corpuscular volume, Poikilocytosis, Elev...	OMIM:615234
Celiac Disease, Susceptibility To, 1	Macrocytic anemia, Ataxia, Eczema, Short stature, Abdominal pain, Postnatal growth retardation, A...	OMIM:212750
Sandifer Syndrome	Hematemesis, Feeding difficulties, Gastroesophageal reflux, Esophagitis, Abnormal posturing, Epis...	ORPHA:71272
Alg8-Cdg	Failure to thrive, Abnormality of subcutaneous fat tissue, Ataxia, Small for gestational age, Dia...	ORPHA:79325
Anemia, Sideroblastic, 3, Pyridoxine-Refractory	Hepatomegaly, Anisocytosis, Splenomegaly, Jaundice, Hepatosplenomegaly, Decreased mean corpuscula...	OMIM:616860
Solitary Rectal Ulcer Syndrome	Abdominal pain, Episodic abdominal pain, Hematochezia, Chronic constipation, Tenesmus, Bloody dia...	ORPHA:209964
Immunodeficiency 38 With Basal Ganglia Calcification	Lymphadenopathy	OMIM:616126
Malaria	Anemia, Gait imbalance, Thrombocytopenia, Nausea and vomiting	ORPHA:673
Adult-Onset Still Disease	Hepatomegaly, Pericarditis, Generalized lymphadenopathy, Neutrophilia, Skin rash, Abdominal pain,...	ORPHA:829
Hemochromatosis, Type 2B	Hepatomegaly, Splenomegaly, Hepatic fibrosis, Cirrhosis, Anemia	OMIM:613313
Atelosteogenesis Type I	Short femur, Rhizomelia, Micrognathia, Abnormal ossification involving the femoral head and neck,...	ORPHA:1190
Atelis Syndrome 1	Eczema, Hypothyroidism, Bronchiectasis, Feeding difficulties, Anemia, Leukopenia, Downslanted pal...	OMIM:620184
Refractory Anemia	Normocytic anemia, Macrocytic anemia, Anemia of inadequate production, Erythroid hypoplasia, Norm...	ORPHA:98826
X-Linked Sideroblastic Anemia	Splenomegaly, Anemia	ORPHA:75563
Rat-Bite Fever	Abdominal aseptic abscess, Pericarditis, Maculopapular exanthema, Parotitis, Skin rash, Erythema ...	ORPHA:31205
Cholestasis, Progressive Familial Intrahepatic, 1	Osteopenia, Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Splenomegaly, Jaundice...	OMIM:211600
Immunodeficiency 17	Autoimmune hemolytic anemia, Eczema, Decreased proportion of CD8-positive T cells, Chronic diarrh...	OMIM:615607
Gm1-Gangliosidosis, Type Ii	Hepatomegaly, Ataxia, Coxa valga, Joint stiffness, Splenomegaly, Hypoplastic vertebral bodies, Ga...	OMIM:230600
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome	Short humerus, Short metacarpal, Thrombocytopenia, Reticulocytopenia, Leukopenia, Panniculitis, B...	ORPHA:508542
Trehalase Deficiency	Diarrhea, Abdominal pain	OMIM:612119
Thrombotic Thrombocytopenic Purpura	Reticulocytosis, Abdominal pain, Diarrhea, Microangiopathic hemolytic anemia, Thrombocytopenia	ORPHA:54057
Osteosclerosis With Ichthyosis And Fractures	Increased bone mineral density, Recurrent fractures, Femoral bowing, Tibial bowing, Cortical thic...	OMIM:166740
Osteopetrosis, Autosomal Dominant 3	Osteopenia, Hepatomegaly, Hyperparathyroidism, Recurrent fractures, Splenomegaly, Anemia	OMIM:618107
Anemia, Congenital Dyserythropoietic, Type Iv	Decreased hemoglobin concentration, Hemolytic anemia, Circulating nucleated red blood cells, Reti...	OMIM:613673
Free Sialic Acid Storage Disease	Hepatomegaly, Ataxia, Failure to thrive in infancy, Splenomegaly, Abnormal foot morphology, Reduc...	ORPHA:834
Familial Mediterranean Fever	Hepatomegaly, Pericarditis, Neutrophilia, Abdominal pain, Orchitis, Splenomegaly, Leukocytosis, P...	OMIM:249100
Mitochondrial Complex Iv Deficiency, Nuclear Type 3	Macrocytic anemia, Ataxia, Feeding difficulties in infancy, Splenomegaly, Ptosis	OMIM:619046
Gaucher Disease Type 3	Hepatomegaly, Pancytopenia, Increased bone mineral density, Ataxia, Splenomegaly, Osteolysis, Inc...	ORPHA:77261
Pgm3-Cdg	Abnormal CD4:CD8 ratio, Decreased/absent ankle reflexes, Leukopenia, T lymphocytopenia, Gastroeso...	ORPHA:443811
Anemia, Congenital Dyserythropoietic, Type Ii	Reticulocytosis, Anemia of inadequate production, Splenomegaly, Jaundice, Cholelithiasis	OMIM:224100
Spondylometaphyseal Dysplasia, Axial	Rhizomelia, Short stature, Splenomegaly, Recurrent pneumonia, Disproportionate short-trunk short ...	OMIM:602271
Agammaglobulinemia 1, Autosomal Recessive	Recurrent pneumonia, Chronic diarrhea, Bronchiectasis, Decreased circulating antibody level, Agam...	OMIM:601495
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 1	Osteopenia, Pancytopenia, Aplastic anemia, Mediastinal lymphadenopathy, Clubbing of fingers, Gast...	OMIM:614742
Acute Monoblastic/Monocytic Leukemia	Acute monocytic leukemia, Anorexia, Leukocytosis, Cervical lymphadenopathy, Central hypothyroidis...	ORPHA:514
Fanconi Anemia, Complementation Group G	Growth delay, Anemia, Neutropenia, Leukemia, Thrombocytopenia	OMIM:614082
Congenital Disorder Of Glycosylation, Type Iij	Hepatomegaly, Ataxia, Splenomegaly, Chronic diarrhea, Feeding difficulties, Cirrhosis, Hepatic fa...	OMIM:613489
Paget Disease Of Bone 2, Early-Onset	Bowing of the long bones, Short femur, Fractures of the long bones, Osteolysis, Femoral bowing, I...	OMIM:602080
Gaucher Disease	Osteopenia, Feeding difficulties in infancy, Tremor, Osteoarthritis, Hepatomegaly, Increased bone...	ORPHA:355
Tibial Aplasia-Ectrodactyly Syndrome	Omphalocele, Finger syndactyly, Short femur, Preaxial hand polydactyly, Postaxial hand polydactyl...	ORPHA:3329
Hypoplastic Femurs And Pelvis	Short femur, Hypoplastic pelvis	OMIM:619545
Amed Syndrome, Digenic	Acute myeloid leukemia, Telecanthus, Short stature, Anemia, Leukopenia, Bone marrow hypocellulari...	OMIM:619151
Lactose Intolerance, Adult Type	Flatulence, Diarrhea, Abdominal pain	OMIM:223100
Cholestasis-Lymphedema Syndrome	Nausea and vomiting, Hepatomegaly, Gastrointestinal hemorrhage, Portal hypertension, Abdominal pa...	ORPHA:1414
Gaucher Disease, Type Iii	Hepatomegaly, Pancytopenia, Ataxia, Short stature, Splenomegaly, Thrombocytopenia	OMIM:231000
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency	Impaired neutrophil bactericidal activity, Pigment gallstones, Spontaneous hemolytic crises, Atax...	OMIM:613470
Shigellosis	Anorexia, Uveitis, Bloody diarrhea, Paralytic ileus, Conjunctivitis, Vomiting, Nausea, Acute coli...	ORPHA:810
Pyruvate Kinase Deficiency Of Red Cells	Reticulocytosis, Decreased hemoglobin concentration, Hepatomegaly, Reduced red cell pyruvate kina...	OMIM:266200
Vici Syndrome	Decreased circulating IgG level, Epicanthus, Left ventricular hypertrophy, Postnatal growth retar...	OMIM:242840
Autoimmune Disease, Multisystem, With Facial Dysmorphism	Hepatomegaly, Pancytopenia, Ptosis, Short stature, Portal hypertension, Gastrostomy tube feeding ...	OMIM:613385
Congenital Disorder Of Glycosylation, Type Iil	Hepatomegaly, Pancytopenia, Epicanthus, Impaired T cell function, Splenomegaly, Chronic diarrhea,...	OMIM:614576
Gray Platelet Syndrome	Splenomegaly, Thrombocytopenia	ORPHA:721
Mucopolysaccharidosis, Type Iiia	Hepatomegaly, Inguinal hernia, Joint stiffness, Splenomegaly, Diarrhea, Umbilical hernia, Dense c...	OMIM:252900
Angioedema, Hereditary, 8	Diarrhea, Episodic vomiting, Abdominal pain	OMIM:619367
Prolidase Deficiency	Hepatomegaly, Eczema, Splenomegaly, Recurrent pneumonia, Crusting erythematous dermatitis, Anemia...	OMIM:170100
Stormorken-Sjaastad-Langslet Syndrome	Asplenia, Short stature, Anemia	ORPHA:3204
Ménétrier Disease	Gastrointestinal hemorrhage, Helicobacter pylori infection, Poor appetite, Anorexia, Nausea, Abdo...	ORPHA:2494
Ataxia-Telangiectasia	Conjunctival telangiectasia, Sinusitis, Choreoathetosis, T lymphocytopenia, Hypoplasia of the thy...	OMIM:208900
Osteogenesis Imperfecta, Type X	Osteopenia, Joint laxity, Bowing of the long bones, Short femur, Inguinal hernia, Rhizomelia, Mic...	OMIM:613848
Trichodentoosseous Syndrome	Increased bone mineral density	OMIM:190320
Osteopetrosis, Autosomal Recessive 7	Abnormal trabecular bone morphology, Hepatomegaly, Femur fracture, Splenomegaly, Osteopetrosis, A...	OMIM:612301
Acute Myelomonocytic Leukemia	Thrombocytopenia, Leukocytosis, Eosinophilia, Anemia	ORPHA:517
Beta-Thalassemia Intermedia	Osteopenia, Extramedullary hematopoiesis, Reduced bone mineral density, Abnormality of the liver,...	ORPHA:231222
Cholestasis, Progressive Familial Intrahepatic, 12	Hepatomegaly, Short stature, Splenomegaly, Jaundice, Cholestasis	OMIM:620010
Sickle Cell Anemia	Hemolytic anemia, Reticulocytosis, Pigment gallstones, Osteomyelitis, Microcytic anemia, Abnormal...	ORPHA:232
Anemia, Congenital Dyserythropoietic, Type Ia	Hemolytic anemia, Reticulocytosis, Hepatomegaly, Mild postnatal growth retardation, Anemia of ina...	OMIM:224120
Congenital Rubella Syndrome	Hepatomegaly, Skin rash, Short stature, Splenomegaly, Jaundice, Anemia, Intrauterine growth retar...	ORPHA:290
Spinocerebellar Ataxia, Autosomal Recessive 21	Hepatomegaly, Hepatic bridging fibrosis, Splenomegaly, Limb ataxia, Gait ataxia, Hepatic fibrosis...	OMIM:616719
Congenital Disorder Of Glycosylation, Type Iio	Hepatomegaly, Splenomegaly, Copper accumulation in liver, Hepatosplenomegaly, Cholestatic liver d...	OMIM:616828
Trichothiodystrophy	Osteopenia, Increased bone mineral density, Multiple joint contractures, Craniosynostosis, Hypopl...	ORPHA:33364
Amoebiasis Due To Entamoeba Histolytica	Intestinal obstruction, Liver abscess, Acute colitis, Lung abscess, Abdominal pain, Leukocytosis,...	ORPHA:67
Mucopolysaccharidosis, Type Iiib	Hepatomegaly, Joint stiffness, Cardiomegaly, Splenomegaly, Diarrhea, Dense calvaria	OMIM:252920
Aicardi-Goutieres Syndrome 7	Atrophic gastritis, Generalized lymphadenopathy, Bloody diarrhea, Hepatic steatosis, Hypothyroidi...	OMIM:615846
Biotinidase Deficiency	Hepatomegaly, Skin rash, Recurrent skin infections, Ataxia, Seborrheic dermatitis, Feeding diffic...	OMIM:253260
Harderoporphyria	Hemolytic anemia, Hepatomegaly, Reticulocytosis, Splenomegaly, Vomiting, Prolonged neonatal jaundice	OMIM:618892
B4Galt1-Cdg	Hepatomegaly, Inflammatory abnormality of the skin, Splenomegaly, Diarrhea, Hypothyroidism	ORPHA:79332
Spherocytosis, Type 5	Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Abnormal platelet count...	OMIM:612690
Hyperimmunoglobulinemia D With Periodic Fever	Gastrointestinal hemorrhage, Hepatomegaly, Intestinal obstruction, Ataxia, Increased circulating ...	ORPHA:343
Griscelli Syndrome Type 2	Nausea and vomiting, Hepatomegaly, Pancytopenia, Splenomegaly, Jaundice, Lymphadenopathy, Hemopha...	ORPHA:79477
Lysinuric Protein Intolerance	Hepatomegaly, Recurrent fractures, Nausea, Protein avoidance, Splenomegaly, Diarrhea, Malnutritio...	OMIM:222700
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia	Skin rash, Cervical lymphadenopathy, Recurrent pneumonia, Decreased mean platelet volume, Lymphad...	OMIM:617718
Ischiocoxopodopatellar Syndrome With Or Without Pulmonary Arterial Hypertension	Pes planus, Wide capital femoral epiphyses, Short femur, Sandal gap, Tarsal synostosis, Micrognat...	OMIM:147891
Rabies	Nausea and vomiting, Diarrhea, Anorexia	ORPHA:770
X-Linked Hypophosphatemia	Bowing of the legs, Generalized osteosclerosis, Trapezoidal distal femoral condyles, Reduced bone...	ORPHA:89936
Cholestasis, Progressive Familial Intrahepatic, 2	Hepatomegaly, Short stature, Splenomegaly, Intrahepatic cholestasis, Diarrhea, Intermittent jaund...	OMIM:601847
Vitamin D-Dependent Rickets, Type 2A	Bulging epiphyses, Enlargement of the ankles, Recurrent fractures, Bowing of the legs, Subperiost...	OMIM:277440
Vitamin D Hydroxylation-Deficient Rickets, Type 1A	Bulging epiphyses, Enlargement of the ankles, Recurrent fractures, Bowing of the legs, Subperiost...	OMIM:264700
Lethal Hemolytic Anemia-Genital Anomalies Syndrome	Splenomegaly, Ascites, Anemia	ORPHA:1046
Chronic Myeloid Leukemia	Poor appetite, Splenomegaly, Leukocytosis, Abnormal granulocyte morphology, Myeloproliferative di...	ORPHA:521
Follicular Lymphoma	Abnormal peritoneum morphology, Splenomegaly, Mediastinal lymphadenopathy, Weight loss, Lymphaden...	ORPHA:545
T-Cell Lymphoma, Subcutaneous Panniculitis-Like	Pancytopenia, Splenomegaly, Panniculitis, Hemophagocytosis, Anemia	OMIM:618398
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia	Splenomegaly, Leukocytosis, Decreased circulating antibody level	OMIM:618042
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2	Acute myeloid leukemia, Pancytopenia, Anemia, Increased mean corpuscular volume, Bone marrow hypo...	OMIM:619041
Neonatal Lupus Erythematosus	Hemolytic anemia, Pancytopenia, Hepatomegaly, Aplastic anemia, Maculopapular exanthema, Skin rash...	ORPHA:398124
Beta-Thalassemia	Hepatomegaly, Abnormal hemoglobin, Microcytic anemia, Splenomegaly, Hepatitis, Anemia, Cholelithi...	ORPHA:848
Immunodeficiency 59 And Hypoglycemia	Hepatomegaly, Complete or near-complete absence of specific antibody response to unconjugated pne...	OMIM:233600
Tricho-Dento-Osseous Syndrome	Increased bone mineral density, Dental enamel pits, Periapical tooth abscess, Enamel hypominerali...	ORPHA:3352
Rhabdoid Tumor	Weight loss, Anemia, Neoplasm of the liver, Lymphadenopathy, Thrombocytopenia	ORPHA:69077
Thanatophoric Dysplasia Type 1	Bowing of the long bones, Short femur, Micromelia, Joint stiffness, Hypoplastic ilia, Abnormal sa...	ORPHA:1860
Kenny-Caffey Syndrome, Type 2	Hypoparathyroidism, Increased bone mineral density, Small for gestational age, Thickened cortex o...	OMIM:127000
Hereditary Amyloidosis With Primary Renal Involvement	Dyspepsia, Hepatomegaly, Gastrointestinal hemorrhage, Intestinal obstruction, Abdominal pain, Dia...	ORPHA:85450
Common Variable Immunodeficiency	Hemolytic anemia, Pneumonia, Autoimmune thrombocytopenia, Splenomegaly, Bronchiectasis, Lymphaden...	ORPHA:1572
Waldenström Macroglobulinemia	Normocytic anemia, Hepatomegaly, Gastrointestinal hemorrhage, Ataxia, Abnormality of neutrophils,...	ORPHA:33226
Farber Disease	Abnormality of the knee, Failure to thrive, Intrahepatic cholestasis with episodic jaundice, Abno...	ORPHA:333
Craniometadiaphyseal Dysplasia, Wormian Bone Type	Osteopenia, Increased bone mineral density, Broad femoral neck, Short tubular bones of the hand, ...	ORPHA:85184
Bile Acid Synthesis Defect, Congenital, 1	Giant cell hepatitis, Hepatomegaly, Failure to thrive, Splenomegaly, Intrahepatic cholestasis, Ja...	OMIM:607765
Thrombocytopenia With Beta-Thalassemia, X-Linked	Hemolytic anemia, Reticulocytosis, Increased RBC distribution width, Reduced platelet alpha granu...	OMIM:314050
Thrombocythemia 1	Splenomegaly, Impaired ADP-induced platelet aggregation, Impaired collagen-induced platelet aggre...	OMIM:187950
Vitamin D Hydroxylation-Deficient Rickets, Type 1B	Bulging epiphyses, Enlargement of the ankles, Recurrent fractures, Bowing of the legs, Delayed ep...	OMIM:600081
Dyskeratosis Congenita, Autosomal Dominant 2	Pancytopenia, Aplastic anemia, Chronic diarrhea, Osteoporosis, Palmoplantar hyperkeratosis, Leuko...	OMIM:613989
Alpha-Mannosidosis	Craniofacial hyperostosis, Bowing of the long bones, Inguinal hernia, Hepatomegaly, Splenomegaly,...	ORPHA:61
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome	Leukopenia, Hashimoto thyroiditis, Hepatomegaly, Ataxia, Portal hypertension, Abdominal pain, Leu...	OMIM:615688
Necrotizing Enterocolitis	Abdominal distention, Leukocytosis, Peritonitis, Diarrhea, Bloody diarrhea, Vomiting, Neutropenia...	ORPHA:391673
Congenital Disorder Of Glycosylation, Type Ig	Short humerus, Short femur, Sandal gap, Rhizomelia, Small for gestational age, Cryptorchidism, Hy...	OMIM:607143
Dracunculiasis	Nausea and vomiting, Recurrent cutaneous abscess formation, Diarrhea, Flexion contracture, Limita...	ORPHA:231
Cholestasis, Progressive Familial Intrahepatic, 9	Hepatomegaly, Malformation of the hepatic ductal plate, Portal hypertension, Splenomegaly, Intrah...	OMIM:619849
Relapsing Fever	Neutrophilia, Abdominal pain, Leukocytosis, Jaundice, Diarrhea, Anemia, Leukopenia, Vomiting, Thr...	ORPHA:91547
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis	Decreased circulating IgG level, Hemolytic anemia, Reticulocytosis, Hepatomegaly, Anisocytosis, C...	OMIM:618278
Hemolytic Disease Of Fetus And Newborn, Rh-Induced	Splenomegaly, Fetal ascites, Hepatomegaly	OMIM:619462
Angioosteohypotrophic Syndrome	Abnormal trabecular bone morphology, Hypoplasia of the ulna, Short humerus, Aplasia/hypoplasia in...	ORPHA:75508
Hb Bart'S Hydrops Fetalis	Hepatomegaly, Pericarditis, Abnormal hemoglobin, Splenomegaly, Anemia	ORPHA:163596
Spondyloepimetaphyseal Dysplasia, Shohat Type	Joint laxity, Hepatomegaly, Micromelia, Splenomegaly, Delayed epiphyseal ossification, Abdominal ...	OMIM:602557
Opsismodysplasia	Hepatomegaly, Abnormally ossified vertebrae, Tapered finger, Joint stiffness, Splenomegaly, Squar...	ORPHA:2746
Osteootohepatoenteric Syndrome	Increased intestinal transit time, Recurrent fractures, Abdominal pain, Avascular necrosis of the...	OMIM:619377
Dehydrated Hereditary Stomatocytosis	Hemolytic anemia, Reticulocytosis, Macrocytic anemia, Cholelithiasis, Anemia of inadequate produc...	ORPHA:3202
Porphyria Due To Ala Dehydratase Deficiency	Ankle flexion contracture, Abdominal pain, Abnormal erythrocyte enzyme level, Abdominal distentio...	ORPHA:100924
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis	Osteomyelitis, Poor appetite, Abnormal sacroiliac joint morphology, Craniofacial osteosclerosis, ...	ORPHA:324964
Mucopolysaccharidosis, Type Iiic	Hepatomegaly, Joint stiffness, Splenomegaly, Diarrhea, Hernia, Dysphagia, Dense calvaria	OMIM:252930
Scrub Typhus	Nausea and vomiting, Anterior uveitis, Skin rash, Abdominal pain, Splenomegaly, Myocarditis, Lymp...	ORPHA:83317
Dehydrated Hereditary Stomatocytosis 2	Hemolytic anemia, Reticulocytosis, Hepatomegaly, Acanthocytosis, Splenomegaly, Jaundice, Increase...	OMIM:616689
Autosomal Recessive Hypophosphatemic Rickets	Abnormal trabecular bone morphology, Increased bone mineral density, Osteomalacia, Craniosynostos...	ORPHA:289176
Dyskeratosis Congenita, Autosomal Recessive 8	Pancytopenia, Reduced natural killer cell count, B lymphocytopenia, Bone marrow hypocellularity	OMIM:620133
Achondroplasia	Brachydactyly, Radial bowing, Short femur, Rhizomelia, Limited hip extension, Bowing of the legs,...	OMIM:100800
Fetal Parvovirus Syndrome	Thrombocytopenia, Ascites, Anemia, Intrauterine growth retardation	ORPHA:295
Hyaline Fibromatosis Syndrome	Osteopenia, Progressive flexion contractures, Diarrhea, Flexion contracture, Osteoporosis, Osteol...	OMIM:228600
Hereditary Elliptocytosis	Hemolytic anemia, Reticulocytosis, Abdominal pain, Abnormal erythrocyte morphology, Splenomegaly,...	ORPHA:288
Propionic Acidemia	Hepatomegaly, Pancytopenia, Short stature, Eczema, Poor appetite, Feeding difficulties in infancy...	OMIM:606054
Intellectual Developmental Disorder, Autosomal Recessive 41	Splenomegaly, Recurrent pneumonia, Downslanted palpebral fissures, Hepatomegaly	OMIM:615637
Mixed Connective Tissue Disease	Gastrointestinal hemorrhage, Hemolytic anemia, Hepatomegaly, Gastritis, Joint stiffness, Splenome...	ORPHA:809
Bile Acid Synthesis Defect, Congenital, 5	Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Iron deficiency anemia, Portal fibrosi...	OMIM:616278
Sting-Associated Vasculopathy, Infantile-Onset	Myositis, Skin rash, Follicular hyperplasia, Pustule, Increased circulating IgA level, Malar rash...	OMIM:615934
Hypopigmentation, Organomegaly, And Delayed Myelination And Development	Splenomegaly, Osteopetrosis, Hepatomegaly	OMIM:618541
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency	Reticulocytosis, Anisocytosis, Abdominal pain, Splenomegaly, Leukocytosis, Jaundice, Prolonged ne...	OMIM:300908
Vitamin B12-Responsive Methylmalonic Acidemia	Nausea and vomiting, Hepatomegaly, Lethargy, Anemia	ORPHA:28
Periodic Fever, Familial, Autosomal Dominant	Gastrointestinal hemorrhage, Hepatomegaly, Myositis, Maculopapular exanthema, Skin rash, Abdomina...	OMIM:142680
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome	Omphalocele, Abnormally ossified vertebrae, Radial bowing, Bowing of the long bones, Micrognathia...	ORPHA:3035
Sitosterolemia 1	Reticulocytosis, Abdominal pain, Thrombocytopenia, Splenomegaly, Giant platelets, Arthritis, Xant...	OMIM:210250
Hemochromatosis, Type 2A	Hepatomegaly, Splenomegaly, Arthritis, Cirrhosis, Lethargy	OMIM:602390
Acute Panmyelosis With Myelofibrosis	Acute myeloid leukemia, Myelofibrosis, Pancytopenia, Splenomegaly, Acute myelomonocytic leukemia,...	ORPHA:86843
Diamond-Blackfan Anemia 9	Growth delay, Anemia	OMIM:613308
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency	Hepatomegaly, Abnormal erythrocyte enzyme level, Splenomegaly, Diarrhea, Osteoporosis, Hepatocell...	ORPHA:264580
Wiskott-Aldrich Syndrome	Abnormal delayed hypersensitivity skin test, Iron deficiency anemia, Inflammation of the large in...	OMIM:301000
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea	Hepatomegaly, Mediastinal lymphadenopathy, Leukocytosis, Chronic diarrhea, Abdominal distention, ...	OMIM:620233
Castleman Disease	Myelofibrosis, Nausea and vomiting, Intestinal obstruction, Generalized lymphadenopathy, Abdomina...	ORPHA:160
Hepatoportal Sclerosis	Gastrointestinal hemorrhage, Portal hypertension, Nodular regenerative hyperplasia of liver, Hype...	ORPHA:64743
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency	Normocytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Normochromic anemia, Cholecystitis, N...	OMIM:235700
Late-Onset Isolated Acth Deficiency	Normocytic anemia, Nausea and vomiting, Macrocytic anemia, Failure to thrive, Hypoparathyroidism,...	ORPHA:199299
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema	Reticulocytosis, Hepatomegaly, Splenomegaly, Jaundice, Conjunctival icterus, Increased mean corpu...	OMIM:194380
Nijmegen Breakage Syndrome	Conjunctival telangiectasia, Autoimmune hemolytic anemia, Sinusitis, Epicanthus, Dysgammaglobulin...	OMIM:251260
Gaucher Disease Type 2	Hepatomegaly, Splenomegaly, Flexion contracture, Dysphagia, Dystonia	ORPHA:77260
Dyskeratosis Congenita, Autosomal Recessive 5	Postnatal growth retardation, Decreased circulating antibody level, Leukopenia, Colitis, Bone mar...	OMIM:615190
Chediak-Higashi Syndrome	Impaired neutrophil bactericidal activity, Hepatomegaly, Recurrent bacterial skin infections, Ata...	OMIM:214500
Wilson Disease	Acute hepatic failure, Hepatomegaly, Splenomegaly, Jaundice, Hepatitis, Anemia, Arthritis, Cirrho...	ORPHA:905
Dpm1-Cdg	Hepatomegaly, Sandal gap, Ataxia, Micrognathia, Diarrhea, Knee flexion contracture, Hepatosplenom...	ORPHA:79322
Immunodeficiency 10	Autoimmune hemolytic anemia, Lymphadenopathy, Thrombocytopenia, Amelogenesis imperfecta	OMIM:612783
Fanconi Anemia, Complementation Group T	Acute myeloid leukemia, Pancytopenia, Short stature, Thrombocytopenia, Bone marrow hypocellularit...	OMIM:616435
Kaposiform Lymphangiomatosis	Abnormal ischium morphology, Abnormal pelvis bone morphology, Abnormal humerus morphology, Pancre...	ORPHA:464329
Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development	Hypoplasia of the ulna, Short femur, Absent thumb, Cryptorchidism, Fibular hypoplasia, Aplasia/Hy...	OMIM:612447
Acrodermatitis Enteropathica, Zinc-Deficiency Type	Hepatomegaly, Ataxia, Short stature, Poor appetite, Impaired T cell function, Splenomegaly, Diarr...	OMIM:201100
Neurodevelopmental Disorder With Epilepsy And Brain Atrophy	Ataxia, Malnutrition, Osteoporosis, Feeding difficulties, Gastroesophageal reflux, Intermittent d...	OMIM:619971
Autosomal Recessive Malignant Osteopetrosis	Hepatomegaly, Bowing of the long bones, Recurrent fractures, Craniosynostosis, Tremor, Splenomega...	ORPHA:667
Malt Lymphoma	Nausea and vomiting, Abnormal nasolacrimal system morphology, Abdominal pain, Mediastinal lymphad...	ORPHA:52417
Autoinflammation, Antibody Deficiency, And Immune Dysregulation	Enterocolitis, Ulcerative colitis, Decreased proportion of class-switched memory B cells, Decreas...	OMIM:614878
Cholestasis, Progressive Familial Intrahepatic, 3	Hepatomegaly, Splenomegaly, Jaundice, Intrahepatic cholestasis, Portal inflammation, Diarrhea, Po...	OMIM:602347
Body Mass Index Quantitative Trait Locus 20	Increased bone mineral density, Obesity	OMIM:618406
Hurler-Scheie Syndrome	Hepatomegaly, Short stature, Abnormality of the tonsils, Splenomegaly, Rhinitis	ORPHA:93476
Autoinflammation With Pulmonary And Cutaneous Vasculitis	Splenomegaly, Interstitial pneumonitis, Anemia, Hepatomegaly	OMIM:620296
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency	Hepatomegaly, Short stature, Postnatal growth retardation, Splenomegaly, Diarrhea, Hepatocellular...	ORPHA:79240
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 6	Pancytopenia, Lymphopenia, Bone marrow hypocellularity, Abnormally low T cell receptor excision c...	OMIM:619767
Hypophosphatemic Rickets With Hypercalciuria, Hereditary	Bulging epiphyses, Enlargement of the ankles, Recurrent fractures, Bowing of the legs, Delayed ep...	OMIM:241530
Pseudo-Torch Syndrome 3	Cardiomegaly, Lymphadenitis, Leukocytosis, Congenital thrombocytopenia, Anemia	OMIM:618886
Hemochromatosis, Type 3	Arthritis, Cirrhosis, Neutropenia, Lymphopenia, Anemia	OMIM:604250
Congenital Disorder Of Glycosylation, Type Ie	Short palm, Hepatomegaly, Ataxia, Ankle flexion contracture, Micrognathia, Tremor, Splenomegaly, ...	OMIM:608799
Bile Acid Synthesis Defect, Congenital, 2	Hepatomegaly, Splenomegaly, Jaundice, Intrahepatic cholestasis, Diarrhea, Steatorrhea, Hepatic fa...	OMIM:235555
Brucellosis	Liver abscess, Anorexia, Knee osteoarthritis, Hyperhidrosis, Leukopenia, Abnormality of the liver...	ORPHA:1304
Listeriosis	Liver abscess, Abnormal cellular immune system morphology, Granulomatosis, Conjunctivitis, Cholec...	ORPHA:533
Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome	Hypoplastic scapulae, Short femur, Rhizomelia, Dumbbell-shaped long bone, Micrognathia, Micromeli...	ORPHA:440354
Mucopolysaccharidosis-Plus Syndrome	Hepatomegaly, Epicanthus, Telecanthus, Splenomegaly, Synophrys, Recurrent pneumonia, Inability to...	OMIM:617303
Alg12-Cdg	Sandal gap, Proximal placement of thumb, Micrognathia, Long fingers, Cryptorchidism, Feeding diff...	ORPHA:79324
Hemophagocytic Lymphohistiocytosis, Familial, 2	Hepatomegaly, Pancytopenia, Skin rash, Ataxia, Reduced natural killer cell activity, Splenomegaly...	OMIM:603553
Bile Acid Synthesis Defect, Congenital, 3	Hepatomegaly, Splenomegaly, Intrahepatic cholestasis, Jaundice, Diarrhea, Hepatitis, Steatorrhea,...	OMIM:613812
Proteasome-Associated Autoinflammatory Syndrome 4	Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Flexion contracture, Generalized lipodys...	OMIM:619183
Pachydermoperiostosis	Gastrointestinal hemorrhage, Hepatomegaly, Osteomyelitis, Elevated circulating growth hormone con...	ORPHA:2796
Macrocephaly/Autism Syndrome	Hepatomegaly, Epicanthus, Splenomegaly, Decreased circulating antibody level, Recurrent otitis me...	OMIM:605309
Pelviscapular Dysplasia	Congenital hip dislocation, Short femur, Hypoplastic scapulae, Hypoplastic ilia, Humeroradial syn...	ORPHA:93333
Galactosemia I	Hemolytic anemia, Hepatomegaly, Diarrhea, Vomiting, Decreased liver function, Cirrhosis	OMIM:230400
Systemic-Onset Juvenile Idiopathic Arthritis	Anterior uveitis, Pericarditis, Hepatomegaly, Skin rash, Abdominal pain, Splenomegaly, Lymphadeno...	ORPHA:85414
Carney Triad	Nausea and vomiting, Gastrointestinal hemorrhage, Anorexia, Abdominal pain, Mediastinal lymphaden...	ORPHA:139411
Cholestasis, Progressive Familial Intrahepatic, 10	Hepatomegaly, Short stature, Splenomegaly, Jaundice, Acholic stools, Portal fibrosis	OMIM:619868
Amyloidosis, Familial Visceral	Splenomegaly, Skin rash, Cholestasis, Hepatomegaly	OMIM:105200
Cartilage-Hair Hypoplasia	Impaired lymphocyte transformation with phytohemagglutinin, Short palm, Macrocytic anemia, Metaph...	OMIM:250250
Desmoplastic Small Round Cell Tumor	Abnormal peritoneum morphology, Hepatomegaly, Neoplasm of the pancreas, Nausea and vomiting, Abdo...	ORPHA:83469
Myopathy With Extrapyramidal Signs	Hepatomegaly, Epicanthus, Ataxia, Splenomegaly, Leukocytosis, Choreoathetosis, Growth delay, Diff...	OMIM:615673
Kenny-Caffey Syndrome, Type 1	Small hand, Short foot, Slender long bone, Short palm, Congenital hypoparathyroidism, Decreased s...	OMIM:244460
Glycogen Storage Disease Xii	Normocytic anemia, Hepatomegaly, Epicanthus, Short stature, Splenomegaly, Jaundice, Normochromic ...	OMIM:611881
Osteopetrosis, Autosomal Dominant 1	Generalized osteosclerosis, Abnormal pelvic girdle bone morphology, Osteopetrosis, Calvarial oste...	OMIM:607634
Alpha-1-Antitrypsin Deficiency	Splenomegaly, Bronchiectasis, Cirrhosis, Hepatocellular carcinoma	OMIM:613490
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia	Hypoparathyroidism, Atrophic gastritis, Chronic active hepatitis, Asplenia, Iridocyclitis, Diarrh...	OMIM:240300
Aplasia Cutis Congenita With Intestinal Lymphangiectasia	Intestinal lymphangiectasia, Lymphopenia	OMIM:207731
Hermansky-Pudlak Syndrome 2	Hepatomegaly, Absent platelet dense granules, Chronic oral candidiasis, Epicanthus, Decreased CD4...	OMIM:608233
Poikiloderma With Neutropenia	Skin rash, Short stature, Sparse eyebrow, Splenomegaly, Recurrent pneumonia, Nasolacrimal duct ob...	OMIM:604173
Lysosomal Acid Lipase Deficiency	Bone-marrow foam cells, Microvesicular hepatic steatosis, Vacuolated lymphocytes, Hepatic fibrosi...	ORPHA:275761
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7	Osteopenia, Portal hypertension, Cryptorchidism, Anemia, Lymphopenia, Thrombocytopenia	OMIM:620365
Overhydrated Hereditary Stomatocytosis	Hemolytic anemia, Reticulocytosis, Decreased mean corpuscular hemoglobin concentration, Anisocyto...	ORPHA:3203
Letterer-Siwe Disease	Seborrheic dermatitis, Abdominal distention, Jaundice, Hepatosplenomegaly, Anemia, Neutropenia, S...	OMIM:246400
Dysosteosclerosis	Osteopenia, Sclerosis of hand bone, Sclerotic scapulae, Micrognathia, Absent frontal sinuses, Abn...	OMIM:224300
Shwachman-Diamond Syndrome 2	Normocytic anemia, Hepatomegaly, Failure to thrive, Exocrine pancreatic insufficiency, Metaphysea...	OMIM:617941
Avian Influenza	Pneumonia, Abdominal pain, Diarrhea, Hepatitis, Leukopenia, Conjunctivitis, Vomiting, Myelitis, L...	ORPHA:454836
Dysosteosclerosis	Craniofacial hyperostosis, Increased bone mineral density, Abnormal dental enamel morphology, Rec...	ORPHA:1782
Infection-Related Hemolytic Uremic Syndrome	Hemolytic anemia, Increased circulating interleukin 6 concentration, Brain abscess, Pneumonia, Na...	ORPHA:544482
Acute Radiation Syndrome	Inflammatory abnormality of the skin, Diarrhea, Interstitial pneumonitis, Vomiting, Granulocytope...	ORPHA:454831
Microsporidiosis	Myositis, Sinusitis, Cholangitis, Anorexia, Abnormality of the spleen, Lymphadenitis, Vomiting, I...	ORPHA:2552
Zygomycosis	Fasciitis, Sinusitis, Acute infectious pneumonia, Unusual gastrointestinal infection, Colitis, Vo...	ORPHA:73263
Transaldolase Deficiency	Hepatomegaly, Pancytopenia, Splenomegaly, Micronodular cirrhosis, Synophrys, Hepatosplenomegaly, ...	OMIM:606003
Fetal Gaucher Disease	Hepatomegaly, Pancytopenia, Splenomegaly, Abnormality of the spleen, Flexion contracture, Stillbi...	ORPHA:85212
Acute Promyelocytic Leukemia	Pancytopenia, Leukocytosis, Lymphadenopathy, Anemia, Leukopenia, Weight loss, Neutropenia, Thromb...	ORPHA:520
Combined Immunodeficiency Due To Crac Channel Dysfunction	Hemolytic anemia, Hepatomegaly, Anhidrosis, Pneumonia, Splenomegaly, Lymphadenopathy, Chronic oti...	ORPHA:169090
Cholestasis-Lymphedema Syndrome	Hepatomegaly, Splenomegaly, Jaundice, Cirrhosis, Erysipelas, Neonatal cholestatic liver disease	OMIM:214900
Leukocyte Adhesion Deficiency Type Ii	Hepatomegaly, Broad eyebrow, Neutrophilia, Severe periodontitis, Palpebral edema, Ataxia, Microcy...	ORPHA:99843
Bare Lymphocyte Syndrome, Type Ii	Viral hepatitis, Cholangitis, Biliary tract abnormality, Chronic mucocutaneous candidiasis, Protr...	OMIM:209920
Pseudohypoparathyroidism Type 1A	Abdominal symptom, Decreased response to growth hormone stimulation test, Reduced circulating pro...	ORPHA:79443
Aredyld Syndrome	Craniofacial hyperostosis, Hepatomegaly, Lipoatrophy, Abnormal dental enamel morphology, Cachexia...	ORPHA:1133
Systemic Capillary Leak Syndrome	Pericarditis, Abdominal pain, Myocarditis, Leukocytosis, Diarrhea, Pancreatitis	ORPHA:188
Felty Syndrome	Splenomegaly, Rheumatoid arthritis, Neutropenia	OMIM:134750
Dacryocystitis-Osteopoikilosis Syndrome	Increased bone mineral density, Osteopoikilosis	ORPHA:1562
Pseudohypoparathyroidism Type 1C	Abdominal symptom, Increased bone mineral density, Short metacarpal, Short fifth metatarsal, Decr...	ORPHA:79444
Paget Disease Of Bone 5, Juvenile-Onset	Osteopenia, Short humerus, Increased bone mineral density, Bowing of the long bones, Recurrent fr...	OMIM:239000
Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis	Pes planus, Short femur, Talipes, Joint hypermobility, Micrognathia, Elliptocytosis, Talipes equi...	OMIM:300990
Neuroendocrine Tumor Of Stomach	Nausea and vomiting, Hepatomegaly, Chronic noninfectious lymphadenopathy, Poor appetite, Anorexia...	ORPHA:100075
Greenberg Dysplasia	Micromelia, Micrognathia, Multiple prenatal fractures, Patchy variation in bone mineral density, ...	OMIM:215140
H Syndrome	Hallux valgus, Pes planus, Lipodystrophy, Recurrent fractures, Microcytic anemia, Osteolysis, Hep...	ORPHA:168569
Sickle Cell Disease	Hemolytic anemia, Hepatomegaly, Abdominal pain, Cardiomegaly, Splenomegaly, Leukocytosis, Splenic...	OMIM:603903
Hypocalcemic Vitamin D-Dependent Rickets	Enlargement of the ankles, Osteomalacia, Irregular, rachitic-like metaphyses, Subperiosteal bone ...	ORPHA:289157
Gm1 Gangliosidosis	Tremor, Gastroesophageal reflux, Ataxia, Hepatosplenomegaly, Abnormal diaphysis morphology, Gait ...	ORPHA:354
Idiopathic Hypereosinophilic Syndrome	Myelofibrosis, Generalized lymphadenopathy, Cholangitis, Feeding difficulties in infancy, Colitis...	ORPHA:3260
Hemophagocytic Lymphohistiocytosis, Familial, 1	Hepatomegaly, Ataxia, Splenomegaly, Jaundice, Lymphadenopathy, Anemia, Leukopenia, Hemophagocytos...	OMIM:267700
Osteopetrosis, Autosomal Recessive 6	Dense metaphyseal bands, Osteopetrosis, Erlenmeyer flask deformity of the femurs, Cortical sclero...	OMIM:611497
Schwartz-Jampel Syndrome	Micromelia, Micrognathia, Feeding difficulties in infancy, Coxa vara, Wrist flexion contracture, ...	ORPHA:800
Immunodeficiency 47	Normocytic anemia, Accessory spleen, Hepatomegaly, Splenomegaly, Chronic diarrhea, Cholestasis, D...	OMIM:300972
Transaldolase Deficiency	Thrombocytopenia, Cirrhosis, Anemia, Hepatosplenomegaly	ORPHA:101028
Granulomatous Disease, Chronic, Autosomal Recessive, 1	Hepatomegaly, Recurrent bacterial skin infections, Liver abscess, Osteomyelitis, Discoid lupus ra...	OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2	Hepatomegaly, Recurrent bacterial skin infections, Liver abscess, Osteomyelitis, Discoid lupus ra...	OMIM:233710
Mucopolysaccharidosis, Type Ii	Hepatomegaly, Severe short stature, Intestinal pseudo-obstruction, Short stature, Splenomegaly, D...	OMIM:309900
Pancreatic Colipase Deficiency	Megaloblastic anemia, Chronic diarrhea, Growth delay, Steatorrhea, Cholelithiasis, Exocrine pancr...	ORPHA:309108
Osteopathia Striata-Cranial Sclerosis Syndrome	Increased bone mineral density, Micrognathia, High iliac wing, Osteopetrosis, Large iliac wing, F...	ORPHA:2780
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes	Anorexia, Abdominal pain, Cachexia, Diarrhea, Xerostomia, Clubbing, Hematochezia, Clubbing of fin...	OMIM:175500
Bacterial Toxic-Shock Syndrome	Fasciitis, Sinusitis, Myositis, Increased circulating myelocyte count, Vomiting, Infectious encep...	ORPHA:36234
Werner Syndrome	Increased bone mineral density, Lipodystrophy, Rocker bottom foot, Lipoatrophy, Joint stiffness, ...	ORPHA:902
Marburg Hemorrhagic Fever	Anorexia, Odynophagia, Uveitis, Bloody diarrhea, Leukopenia, Vomiting, Lethargy, Conjunctival hyp...	ORPHA:99826
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis	Osteopenia, Hepatomegaly, Neutrophilia, Osteomyelitis, Abscess, Failure to thrive in infancy, Spl...	OMIM:612852
Microcephalic Osteodysplastic Primordial Dwarfism, Type I	Micromelia, Micrognathia, Delayed epiphyseal ossification, Flexion contracture, Preaxial polydact...	OMIM:210710
Cutaneous Mastocytoma	Maculopapular exanthema, Abdominal pain, Diarrhea, Lymphadenopathy, Vomiting, Nausea	ORPHA:79455
Short Fifth Metacarpals-Insulin Resistance Syndrome	Splenomegaly, Spherocytosis, Short stature	ORPHA:66518
Familial Mediterranean Fever	Acute hepatic failure, Nausea and vomiting, Pericarditis, Intestinal obstruction, Skin rash, Abdo...	ORPHA:342
Essential Thrombocythemia	Myelofibrosis, Splenomegaly, Abnormal platelet morphology, Acute leukemia	ORPHA:3318
Congenital Disorder Of Glycosylation, Type Ia	Osteopenia, Hepatomegaly, Ataxia, Feeding difficulties in infancy, Tremor, Abnormal subcutaneous ...	OMIM:212065
Syndromic Diarrhea	Hepatomegaly, Dependency on intravenous nutrition, Gastritis, Short stature, Increased mean plate...	ORPHA:84064
Autoimmune Hepatitis	Gastrointestinal hemorrhage, Viral hepatitis, Acute hepatitis, Glomerulonephritis, Abdominal pain...	ORPHA:2137
Granulomatous Disease, Chronic, Autosomal Recessive, 4	Hepatomegaly, Recurrent bacterial skin infections, Liver abscess, Osteomyelitis, Discoid lupus ra...	OMIM:233690
3-Hydroxy-3-Methylglutaric Aciduria	Hepatomegaly, Acute pancreatitis, Ataxia, Anorexia, Reye syndrome-like episodes, Leukocytosis, Ja...	ORPHA:20
Neuroblastoma, Susceptibility To, 1	Abdominal mass, Ataxia, Abdominal pain, Diarrhea, Horner syndrome, Anemia	OMIM:256700
Progressive Multifocal Leukoencephalopathy	Decreased proportion of CD8-positive T cells, Abnormal proportion of CD4-positive T cells	ORPHA:217260
Dysostosis, Stanescu Type	Bowing of the long bones, Increased bone mineral density, Abnormal dental enamel morphology, Micr...	ORPHA:1798
Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, And Migraine Headache Syndrome	Splenomegaly, Pancytopenia, Anhidrosis	OMIM:614979
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts	Hypothyroidism, Anisopoikilocytosis, Reticulocytopenia, Hepatosplenomegaly, Growth delay, Decreas...	ORPHA:300298
Adult Acute Respiratory Distress Syndrome	Increased circulating interleukin 6 concentration, Pneumonia, Abnormal circulating interleukin co...	ORPHA:70578
Glucagonoma	Anorexia, Poor appetite, Lack of bowel sounds, Hepatomegaly, Acanthocytosis, Intermittent jaundic...	ORPHA:97280
Paroxysmal Nocturnal Hemoglobinuria 2	Hemolytic anemia, Diarrhea, Abdominal pain	OMIM:615399
Acute Lung Injury	Acute pancreatitis, Increased circulating interleukin 6 concentration, Pneumonia, Abnormality of ...	ORPHA:178320
Brunner Syndrome	Diarrhea, Kinetic tremor	OMIM:300615
Joubert Syndrome 33	Splenomegaly, Ataxia	OMIM:617767
Wiskott-Aldrich Syndrome	Abnormal eosinophil morphology, Sinusitis, Microcytic anemia, Inflammation of the large intestine...	ORPHA:906
Caroli Disease	Liver abscess, Cholangitis, Anorexia, Hepatic fibrosis, Vomiting, Nausea, Hepatomegaly, Portal hy...	ORPHA:53035
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency	Inguinal hernia, Abnormality of the pancreas, Reduced bone mineral density, Long fibula, Abnormal...	ORPHA:935
Splenoportal Vascular Anomalies	Anomalous splenoportal venous system, Splenomegaly, Hepatic fibrosis, Cirrhosis, Ascites	OMIM:271500
Otopalatodigital Syndrome Type 2	Omphalocele, Increased bone mineral density, Bowing of the long bones, Failure to thrive, Tarsal ...	ORPHA:90652
Q Fever	Hepatomegaly, Pericarditis, Osteomyelitis, Maculopapular exanthema, Pneumonia, Anorexia, Splenome...	ORPHA:781
Brachial Amelia, Cleft Lip, And Holoprosencephaly	Omphalocele, Short femur, Foot oligodactyly, Amelia	OMIM:601357
Coach Syndrome 3	Portal fibrosis, Ataxia, Anemia, Ptosis	OMIM:619113
Wiedemann-Rautenstrauch Syndrome	Micrognathia, Flexion contracture, Hypoplasia of the thymus, Genu varum, Long toe, Intention trem...	OMIM:264090
Cryoglobulinemic Vasculitis	Gastrointestinal hemorrhage, Viral hepatitis, Hepatomegaly, Abdominal pain, Splenomegaly, Mediast...	ORPHA:91138
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis	Abnormal metacarpophalangeal joint morphology, Ankle swelling, Abnormal metatarsal morphology, Jo...	ORPHA:85408
Thrombocytopenia, Anemia, And Myelofibrosis	Anemia, Splenomegaly, Anisopoikilocytosis, Thrombocytopenia	OMIM:617441
Fanconi Anemia, Complementation Group V	Short stature, Thrombocytopenia, Bone marrow hypocellularity, Neutropenia, Anemia	OMIM:617243
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss	Splenomegaly, Jaundice, Cholestasis, Hepatic fibrosis, Hepatic bridging fibrosis	OMIM:619658
Kikuchi-Fujimoto Disease	Hepatomegaly, Generalized lymphadenopathy, Skin rash, Palpebral edema, Anorexia, Ataxia, Pustule,...	ORPHA:50918
Hypophosphatemic Rickets, Autosomal Recessive, 1	Hypophosphatemic rickets, Increased bone mineral density, Rickets, Craniosynostosis	OMIM:241520
Pseudohypoparathyroidism Type 1B	Abdominal symptom, Increased bone mineral density, Cortical subperiosteal resorption of humeral m...	ORPHA:94089
Drug Reaction With Eosinophilia And Systemic Symptoms	Acute hepatic failure, Skin rash, Eosinophilia, Pustule, Myocarditis, Hepatitis, Thyroiditis, Lym...	ORPHA:139402
Kawasaki Disease	Nausea and vomiting, Pericarditis, Skin rash, Abdominal pain, Myocarditis, Cervical lymphadenopat...	ORPHA:2331
Chronic Granulomatous Disease	Hepatomegaly, Liver abscess, Sinusitis, Eczema, Abnormality of neutrophils, Splenomegaly, Mediast...	ORPHA:379
Icf Syndrome	Epicanthus, Short stature, Abnormality of neutrophils, Decreased circulating antibody level, Lymp...	ORPHA:2268
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome	Decreased circulating cortisol level, Severe B lymphocytopenia, Psoriasiform dermatitis, Decrease...	ORPHA:293978
Alveolar Echinococcosis	Liver abscess, Ataxia, Eosinophilia, Cholangitis, Portal hypertension, Hepatic cysts, Pancreatic ...	ORPHA:284
Niemann-Pick Disease, Type C1	Hepatomegaly, Fatal liver failure in infancy, Ataxia, Bone-marrow foam cells, Fetal ascites, Sple...	OMIM:257220
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5	Short stature, Gout, Neutropenia, Intrauterine growth retardation, Anemia	OMIM:617056
Lig4 Syndrome	Hepatomegaly, Pancytopenia, Micrognathia, Cryptorchidism, Leukocytosis, Acute leukemia, Lymphaden...	ORPHA:99812
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction	Hypoparathyroidism, Aplasia of the thymus, Decreased response to growth hormone stimulation test,...	OMIM:618223
Diamond-Blackfan Anemia 21	Hallux valgus, Pes planus, Sandal gap, Tapered finger, Micrognathia, Erythroid hypoplasia, Short ...	OMIM:620072
Tempi Syndrome	Increased circulating IgG level, Ascites, Increased hematocrit, Polycythemia	ORPHA:284227
Immunodeficiency 9	Chronic diarrhea, Hypoplasia of the thymus, Recurrent aphthous stomatitis, Difficulty walking, St...	OMIM:612782
Anemia, Sideroblastic, 5	Thrombocytopenia, Hypochromic microcytic anemia, Reduced hematocrit, Neutropenia, Anemia	OMIM:619523
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome	Hepatomegaly, Sparse eyelashes, Portal hypertension, Sparse eyebrow, Splenomegaly, Jaundice, Chol...	ORPHA:59303
5-Oxoprolinase Deficiency	Diarrhea, Vomiting, Enterocolitis, Abdominal pain	OMIM:260005
Hypophosphatemic Rickets, X-Linked Recessive	Bulging epiphyses, Enlargement of the ankles, Osteomalacia, Recurrent fractures, Bowing of the le...	OMIM:300554
Erythrocytosis, Familial, 4	Increased hematocrit, Polycythemia, Increased hemoglobin	OMIM:611783
Glycosylphosphatidylinositol Biosynthesis Defect 1	Portal vein thrombosis, Splenomegaly, Portal hypertension, Hepatomegaly	OMIM:610293
Lipodystrophy, Congenital Generalized, Type 3	Hepatomegaly, Short stature, Splenomegaly, Hepatosplenomegaly, Hepatic steatosis	OMIM:612526
Melorheostosis, Isolated	Hyperostosis, Increased bone mineral density	OMIM:155950
Symptomatic Form Of Hfe-Related Hemochromatosis	Abnormal metacarpophalangeal joint morphology, Hepatomegaly, Cholangiocarcinoma, Portal hypertens...	ORPHA:465508
Familial Pancreatic Carcinoma	Nausea and vomiting, Pancreatic adenocarcinoma, Intestinal pseudo-obstruction, Functional intesti...	ORPHA:1333
Spherocytosis, Type 2	Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Jaundice, Spherocytosis	OMIM:616649
Neurodevelopmental Disorder With Craniofacial Dysmorphism And Skeletal Defects	Osteopenia, Joint laxity, Arachnodactyly, Ataxia, Coxa valga, Inability to walk, Metaphyseal wide...	OMIM:620083
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria	Short humerus, Hepatomegaly, Short femur, Flexion contracture, Unsteady gait, Feeding difficultie...	ORPHA:17
Spherocytosis, Type 4	Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis	OMIM:612653
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly	Hepatomegaly, Splenomegaly, Postaxial hand polydactyly, Obesity, Cone-shaped epiphyses of the pha...	OMIM:615630
Fabry Disease	Abdominal pain, Diarrhea, Tenesmus, Hypohidrosis, Vomiting, Delayed puberty, Left ventricular hyp...	OMIM:301500
Crimean-Congo Hemorrhagic Fever	Anorexia, Hyperhidrosis, Leukopenia, Increased circulating IgG level, Conjunctivitis, Cholecystit...	ORPHA:99827
Lujo Hemorrhagic Fever	Resting tremor, Stiff neck, Leukocytosis, Fulminant hepatitis, Odynophagia, Diarrhea, Leukopenia,...	ORPHA:319213
Neutropenia, Severe Congenital, 4, Autosomal Recessive	Hepatomegaly, Inguinal hernia, Failure to thrive, Intermittent thrombocytopenia, Perianal abscess...	OMIM:612541
Mohr-Tranebjaerg Syndrome	Tremor, Dysphagia, Increased susceptibility to fractures, Dystonia, Abnormal posturing	OMIM:304700
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness	Increased bone mineral density, Micrognathia, Osteopetrosis, Decreased body weight, Clinodactyly ...	OMIM:617306
Huntington Disease-Like 1	Dysmetria, Gait ataxia, Abnormal shoulder morphology, Bradykinesia, Weight loss, Gait disturbance...	ORPHA:157941
Hurler Syndrome	Hepatomegaly, Inguinal hernia, Hypoplasia of the femoral head, Coxa valga, Joint stiffness, Splen...	OMIM:607014
Maternal Uniparental Disomy Of Chromosome 4	Ataxia, Short stature, Acanthocytosis, Abnormal erythrocyte morphology, Postnatal growth retardat...	ORPHA:96180
Intestinal Dysmotility Syndrome	Projectile vomiting, Abdominal distention, Diarrhea, Feeding difficulties, Decreased intestinal t...	OMIM:620045
Shiga Toxin-Associated Hemolytic Uremic Syndrome	Reticulocytosis, Acute colitis, Abdominal pain, Leukocytosis, Schistocytosis, Peritonitis, Diarrh...	ORPHA:90038
Florid Cemento-Osseous Dysplasia	Abnormal trabecular bone morphology, Multiple bony cystic lesions, Mandibular osteomyelitis, Feed...	ORPHA:83451
Osteopetrosis With Renal Tubular Acidosis	Hepatomegaly, Pancytopenia, Recurrent fractures, Micrognathia, Enlarged tonsils, Anemia, Leukopen...	ORPHA:2785
Portal Hypertension, Noncirrhotic, 2	Hepatomegaly, Portal hypertension, Nodular regenerative hyperplasia of liver, Splenomegaly, Hepat...	OMIM:619463
Lysinuric Protein Intolerance	Osteopenia, Hepatomegaly, Failure to thrive, Decreased response to growth hormone stimulation tes...	ORPHA:470
Pearson Marrow-Pancreas Syndrome	Sideroblastic anemia, Pancytopenia, Hepatomegaly, Pancreatic fibrosis, Anorexia, Thrombocytopenia...	OMIM:557000
Erythrocytosis, Familial, 5	Increased hematocrit, Polycythemia, Increased hemoglobin	OMIM:617907
Spherocytosis, Type 1	Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Cholelithiasis	OMIM:182900
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis	Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume	OMIM:300946
Congenital Sucrase-Isomaltase Deficiency	Abdominal distention, Abdominal colic, Vomiting, Diarrhea	ORPHA:35122
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome	Hepatomegaly, Inguinal hernia, Severe B lymphocytopenia, Overlapping toe, Arachnodactyly, Failure...	ORPHA:83617
Sandhoff Disease, Juvenile Form	Limb joint contracture, Ataxia, Diarrhea, Constipation, Gait disturbance, Dysphagia, Failure to t...	ORPHA:309162
Immunodeficiency 32A	Lymphadenitis, Granuloma, Lymphadenopathy	OMIM:614893
Trehalase Deficiency	Abdominal distention, Diarrhea, Vomiting, Abdominal pain	ORPHA:103909
Snakebite Envenomation	Diarrhea, Neuromuscular dysphagia, Pseudobulbar paralysis, Vomiting, Hypopituitarism, Thrombocyto...	ORPHA:449285
Gracile Bone Dysplasia	Failure to thrive, Asplenia, Flared metaphysis, Slender long bone, Ascites, Hypoplastic spleen, D...	OMIM:602361
Cockayne Syndrome Type 1	Hepatomegaly, Ataxia, Postnatal growth retardation, Diarrhea, Uveitis, Hypohidrosis, Conjunctivit...	ORPHA:90321
Histiocytosis-Lymphadenopathy Plus Syndrome	Decreased response to growth hormone stimulation test, Cardiomegaly, Joint contracture of the 5th...	OMIM:602782
Endosteal Hyperostosis, Autosomal Dominant	Hyperostosis, Abnormal pelvic girdle bone morphology, Metacarpal diaphyseal endosteal sclerosis, ...	OMIM:144750
Spontaneous Periodic Hypothermia	Nausea and vomiting, Skin rash, Ataxia, Diarrhea, Hyperhidrosis, Gait disturbance	ORPHA:29822
Gaisböck Syndrome	Splenomegaly, Increased mean corpuscular hemoglobin concentration, Gout, Increased hematocrit, El...	ORPHA:90041
Chylomicron Retention Disease	Acanthocytosis, Abdominal distention, Diarrhea, Growth delay, Vomiting, Steatorrhea, Increased he...	ORPHA:71
Paroxysmal Cold Hemoglobinuria	Nausea and vomiting, Autoimmune hemolytic anemia, Diarrhea, Coombs-positive hemolytic anemia	ORPHA:90035
Cryohydrocytosis	Splenomegaly, Hemolytic anemia, Stomatocytosis, Reticulocytosis	OMIM:185020
Gaucher Disease, Type I	Hepatomegaly, Pancytopenia, Hypersplenism, Splenomegaly, Anemia, Pathologic fracture, Erlenmeyer ...	OMIM:230800
Rapadilino Syndrome	Sparse eyelashes, Short stature, Sparse eyebrow, Diarrhea, Feeding difficulties, Narrow palpebral...	OMIM:266280
Kyphomelic Dysplasia	Short humerus, Short metacarpal, Radial bowing, Short femur, Bowed humerus, Micromelia, Micrognat...	OMIM:211350
Erythrocytosis, Familial, 3	Increased red blood cell mass, Increased hematocrit, Increased hemoglobin	OMIM:609820
Blomstrand Lethal Chondrodysplasia	Short metacarpal, Increased bone mineral density, Bowing of the long bones, Rhizomelia, Aplastic ...	ORPHA:50945
Infantile Systemic Hyalinosis	Osteopenia, Osteomalacia, Camptodactyly of finger, Micromelia, Recurrent fractures, Joint stiffne...	ORPHA:2176
Aicardi-Goutieres Syndrome 1	Hepatomegaly, Short stature, Chilblains, Feeding difficulties in infancy, Splenomegaly, Inability...	OMIM:225750
Autoimmune Hypoparathyroidism	Abdominal symptom, Increased bone mineral density, Laryngeal dystonia, Autoimmune hypoparathyroidism	ORPHA:36913
Bleeding Disorder, Platelet-Type, 16	Giant platelets, Macrothrombocytopenia, Platelet anisocytosis, Anemia, Impaired platelet aggregat...	OMIM:187800
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome	Osteopenia, Short fourth metatarsal, Tibial metaphyseal irregularity, Coxa vara, Flattened femora...	ORPHA:457395
Stevens-Johnson Syndrome	Acute hepatic failure, Nausea and vomiting, Gastrointestinal hemorrhage, Entropion, Abnormality o...	ORPHA:36426
Mitochondrial Complex Iii Deficiency, Nuclear Type 11	Diarrhea, Vomiting, Pancreatitis, Abdominal pain	OMIM:620137
Plague	Chapped lip, Anorexia, Lymphadenitis, Bloody diarrhea, Acute infectious pneumonia, Inflammation o...	ORPHA:707
Autoerythrocyte Sensitization Syndrome	Gastrointestinal hemorrhage, Superficial dermal perivascular inflammatory infiltrate, Autoimmune ...	ORPHA:324636
Methylmalonic Aciduria And Homocystinuria, Cblf Type	Hepatomegaly, Pancytopenia, Epicanthus, Skin rash, Short stature, Megaloblastic anemia, Feeding d...	OMIM:277380
Orofaciodigital Syndrome Vi	11 pairs of ribs, Brachydactyly, Toe syndactyly, Short femur, Mesoaxial hand polydactyly, Postaxi...	OMIM:277170
Somatostatinoma	Anorexia, Poor appetite, Lack of bowel sounds, Hepatomegaly, Intermittent jaundice, Episodic abdo...	ORPHA:97283
Intellectual Developmental Disorder, Autosomal Dominant 53	Short femur, Cryptorchidism, Gastrointestinal dysmotility, Unsteady gait, Genu valgum, Joint hype...	OMIM:617798
Lenz-Majewski Hyperostotic Dwarfism	Finger syndactyly, Increased bone mineral density, Inguinal hernia, Femoral hernia, Abnormal dent...	ORPHA:2658
Pearson Syndrome	Decreased response to growth hormone stimulation test, Abnormality of the liver, Neutropenia, Hep...	ORPHA:699
Mucopolysaccharidosis, Type Iiid	Epiphyseal dysplasia, Inguinal hernia, Hepatomegaly, Joint stiffness, Splenomegaly, Achilles tend...	OMIM:252940
Portal Hypertension, Noncirrhotic, 1	Splenomegaly, Portal hypertension, Hepatomegaly	OMIM:617068
Autoimmune Polyendocrinopathy Type 4	Macrocytic anemia, Atrophic gastritis, Autoimmune thrombocytopenia, Iridocyclitis, Xerostomia, Bi...	ORPHA:227990
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections	Decreased proportion of CD4-positive helper T cells, Reduced natural killer cell count, Eosinophilia	OMIM:243700
Familial Benign Copper Deficiency	Short stature, Acne, Anemia	ORPHA:1551
Mannosidosis, Alpha B, Lysosomal	Hepatomegaly, Epicanthus, Splenomegaly, Vacuolated lymphocytes, Limb ataxia, Decreased circulatin...	OMIM:248500
Inflammatory Skin And Bowel Disease, Neonatal, 2	Pustule, Recurrent pneumonia, Secretory diarrhea, Increased circulating IgE level, Vomiting, Long...	OMIM:616069
Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies	Hepatosplenomegaly, Lymphadenopathy, Microcytic anemia	OMIM:619750
Obesity Due To Congenital Leptin Deficiency	Pituitary hypothyroidism, Obesity, Hypoplasia of the ovary, Decreased proportion of CD4-positive ...	ORPHA:66628
Overhydrated Hereditary Stomatocytosis	Hemolytic anemia, Reticulocytosis, Hepatomegaly, Splenomegaly, Jaundice, Stomatocytosis, Increase...	OMIM:185000
Granulomatous Disease, Chronic, X-Linked	Hepatomegaly, Recurrent bacterial skin infections, Liver abscess, Osteomyelitis, Discoid lupus ra...	OMIM:306400
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis	Abnormally low T cell receptor excision circle level, Macrocytic anemia, Neutrophilia, Leukocytos...	OMIM:608203
Riddle Syndrome	Conjunctival telangiectasia, Generalized lymphadenopathy, Ataxia, Pneumonia, Short stature, Abdom...	ORPHA:420741
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2	Pancytopenia, Skin rash, Ataxia, Diarrhea, Gait ataxia, Vomiting, Left ventricular hypertrophy, L...	OMIM:618321
Cleidocranial Dysplasia 1	Micrognathia, Short middle phalanx of the 2nd finger, Absent frontal sinuses, Coxa vara, Hypoplas...	OMIM:119600
Autoimmune Polyendocrinopathy Type 3	Macrocytic anemia, Atrophic gastritis, Autoimmune hypoparathyroidism, Autoimmune thrombocytopenia...	ORPHA:227982
Hemochromatosis, Type 1	Hepatomegaly, Abdominal pain, Cardiomegaly, Splenomegaly, Osteoporosis, Cirrhosis, Hepatocellular...	OMIM:235200
Familial Papillary Or Follicular Thyroid Carcinoma	Recurrent fractures, Chronic noninfectious lymphadenopathy, Abnormal lymph node morphology, Nodul...	ORPHA:319487
Nodular Non-Suppurative Panniculitis	Nausea and vomiting, Hepatomegaly, Abdominal pain, Splenomegaly, Panniculitis, Inflammatory abnor...	ORPHA:33577
Mucopolysaccharidosis Type 7	Inguinal hernia, Joint stiffness, Metatarsus adductus, Splenomegaly, Hepatitis, Epiphyseal stippl...	ORPHA:584
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib	Inflammation of the large intestine, Periodontitis, Hepatic steatosis, Hypothyroidism, Hepatomega...	ORPHA:79259
Familial Papillary Thyroid Carcinoma With Renal Papillary Neoplasia	Recurrent fractures, Chronic noninfectious lymphadenopathy, Abnormal lymph node morphology, Nodul...	ORPHA:97290
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency	Hepatomegaly, Ataxia, Poor appetite, Reye syndrome-like episodes, Diarrhea, Feeding difficulties,...	ORPHA:927
Budd-Chiari Syndrome	Gastrointestinal hemorrhage, Hepatomegaly, Intestinal obstruction, Acute hepatic failure, Portal ...	ORPHA:131
Complement Component 4B Deficiency	Chronic active hepatitis, Chronic diarrhea, Recurrent pneumonia, Recurrent sinusitis, Recurrent o...	OMIM:614379
Congenital Pulmonary Lymphangiectasia	Hepatomegaly, Splenomegaly, Growth delay, Gastroesophageal reflux, Ascites	ORPHA:2414
Bone Marrow Failure Syndrome 3	Acute myeloid leukemia, Pancytopenia, Epicanthus, Aplastic anemia, Eczema, Short stature, Pancrea...	OMIM:617052
Neutrophilic Dermatosis, Acute Febrile	Increased circulating interleukin 6 concentration, Anemia, Panniculitis, Cystic acne, Acne inversa	OMIM:608068
8P11.2 Deletion Syndrome	Hemolytic anemia, Epicanthus, Short stature, Splenomegaly, Spherocytosis, Feeding difficulties, U...	ORPHA:251066
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects	Hemolytic anemia, Hepatomegaly, Ataxia, Short stature, Splenomegaly, Jaundice, Inability to walk,...	OMIM:608885
Hereditary Orotic Aciduria	Splenomegaly, Downslanted palpebral fissures, Impaired T cell function, Anemia	ORPHA:30
Bone Marrow Failure Syndrome 5	Short stature, Pure red cell aplasia, Erythroid hypoplasia, Decreased circulating antibody level,...	OMIM:618165
Developmental And Epileptic Encephalopathy 50	Broad-based gait, Acanthocytosis, Diarrhea, Schistocytosis, Anisopoikilocytosis, Dysphagia, Anemia	OMIM:616457
Triosephosphate Isomerase Deficiency	Normocytic anemia, Hemolytic anemia, Macrocytic anemia, Splenomegaly, Jaundice, Unsteady gait, No...	OMIM:615512
Acquired Hypertrichosis Lanuginosa	Abnormal eyebrow morphology, Poor appetite, Abnormal eyelid morphology, Chronic diarrhea, Lymphad...	ORPHA:2221
Immunoglobulin Kappa Light Chain Deficiency	Diarrhea, Chronic diarrhea, Abnormal immunoglobulin level	OMIM:614102
Congenital Enterovirus Infection	Abnormal macrophage morphology, Skin rash, Fetal ascites, Myocarditis, Leukocytosis, Hepatitis, C...	ORPHA:292
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy	Eosinophilic infiltration of the esophagus, Perianal abscess, Leukocytosis, Increased circulating...	OMIM:618213
Obesity Due To Leptin Receptor Gene Deficiency	Pituitary hypothyroidism, Obesity, Hypoplasia of the ovary, Decreased proportion of CD4-positive ...	ORPHA:179494
Dentin Dysplasia With Sclerotic Bones	Dentinogenesis imperfecta limited to primary teeth, Cortical sclerosis	OMIM:125440
Hatipoglu Immunodeficiency Syndrome	Anhidrosis, Pancytopenia, Eczema, Proportionate short stature, Atopic dermatitis, Feeding difficu...	OMIM:620331
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome	Gastrointestinal hemorrhage, Hip contracture, Hematemesis, Osteolysis involving bones of the uppe...	ORPHA:464321
Spondylodysplastic Ehlers-Danlos Syndrome	Osteopenia, Multiple joint contractures, Micrognathia, Metaphyseal widening, Flexion contracture,...	ORPHA:536471
Glycogen Storage Disease Ib	Hepatomegaly, Pancreatic fibrosis, Short stature, Splenomegaly, Delayed puberty, Neutropenia, Gou...	OMIM:232220
Isolated Sedoheptulokinase Deficiency	Short stature, Portal hypertension, Hepatitis, Cholestasis, Hypochromic microcytic anemia, Shallo...	ORPHA:440713
Trichohepatoenteric Syndrome 2	Hepatomegaly, Diarrhea, Chronic diarrhea, Bloody diarrhea, Chronic hepatitis, Colitis, Cirrhosis,...	OMIM:614602
Coccidioidomycosis	Osteomyelitis, Eosinophilia, Abscess, Abnormality of the spleen, Mediastinal lymphadenopathy, Per...	ORPHA:228123
Axial Osteomalacia	Increased bone mineral density, Polycystic liver disease, Osteomalacia	OMIM:109130
Chédiak-Higashi Syndrome	Vacuolated lymphocytes, Periodontitis, Neutropenia, Abnormal natural killer cell morphology, Atax...	ORPHA:167
Beta-Ketothiolase Deficiency	Hepatomegaly, Ataxia, Anorexia, Leukocytosis, Diarrhea, Weight loss, Vomiting, Thrombocytosis	ORPHA:134
Gaucher Disease, Type Ii	Hepatomegaly, Splenomegaly, Feeding difficulties, Anemia, Gastroesophageal reflux, Protuberant ab...	OMIM:230900
Hennekam Syndrome	Finger syndactyly, Camptodactyly of finger, Craniosynostosis, Splenomegaly, Abnormal foot morphol...	ORPHA:2136
Pancreatic Triacylglycerol Lipase Deficiency	Osteomalacia, Abdominal pain, Abdominal distention, Diarrhea, Osteoporosis, Rickets, Weight loss,...	ORPHA:309031
Erythrocytosis, Familial, 6	Increased hematocrit, Polycythemia, Increased hemoglobin	OMIM:617980
Car T Cell Therapy-Associated Cytokine Release Syndrome	Increased inflammatory response, Increased circulating interleukin 6 concentration, Skin rash, Po...	ORPHA:542323
Dent Disease 1	Bulging epiphyses, Enlargement of the ankles, Osteomalacia, Recurrent fractures, Bowing of the le...	OMIM:300009
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis	Ataxia, Increased skull ossification, Craniofacial osteosclerosis, Metaphyseal widening, Diaphyse...	OMIM:618476
Prolidase Deficiency	Hepatomegaly, Arachnodactyly, Micrognathia, Splenomegaly, Genu valgum, Reduced bone mineral densi...	ORPHA:742
Glycogen Storage Disease Ixa1	Growth delay, Splenomegaly, Hepatomegaly	OMIM:306000
Lesch-Nyhan Syndrome	Gout, Anemia	ORPHA:510
Dubowitz Syndrome	Ptosis, Epicanthus, Telecanthus, Aplastic anemia, Eczema, Short stature, Feeding difficulties in ...	OMIM:223370
Adenosine Triphosphate, Elevated, Of Erythrocytes	Reduced erythrocyte 2,3-diphosphoglycerate concentration, Polycythemia	OMIM:102900
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome	Congenital hip dislocation, Microvesicular hepatic steatosis, Reduced bone mineral density, Shoul...	ORPHA:404454
Cutaneous Photosensitivity And Colitis, Lethal	Diarrhea, Colitis	OMIM:219095
Elliptocytosis 1	Splenomegaly, Hemolytic anemia, Jaundice, Elliptocytosis	OMIM:611804
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2	Accessory spleen, Hepatomegaly, Epicanthus, Splenomegaly, Microvesicular hepatic steatosis, Macro...	OMIM:619418
Gray Platelet Syndrome	Myelofibrosis, Splenomegaly, Thrombocytopenia, Abnormal number of alpha granules	OMIM:139090
Dubowitz Syndrome	Aplasia/Hypoplasia of the thumb, Abnormality of neutrophils, Abnormality of thumb phalanx, Microg...	ORPHA:235
Optic Atrophy 11	Ataxia, Short stature, Splenomegaly, Gait apraxia, Dysmetria, Athetosis, Constipation	OMIM:617302
Craniometaphyseal Dysplasia	Craniofacial hyperostosis, Abnormal metaphysis morphology, Osteopetrosis	ORPHA:1522
Sarcoidosis, Susceptibility To, 2	Hepatomegaly, Erythema nodosum, Splenomegaly, Mediastinal lymphadenopathy, Bronchiectasis, Uveitis	OMIM:612387
Shwachman-Diamond Syndrome	Normocytic anemia, Transient neutropenia, Aplastic anemia, Sinusitis, Decreased response to growt...	ORPHA:811
Anemia, Hypochromic Microcytic, With Iron Overload 1	Decreased mean corpuscular volume, Elevated hepatic iron concentration, Erythroid hyperplasia, Hy...	OMIM:206100
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia	Hepatomegaly, Ataxia, Diarrhea, Osteoporosis, Rickets, Vomiting, Failure to thrive	OMIM:560000
Glycogen Storage Disease Ixc	Hepatomegaly, Postnatal growth retardation, Splenomegaly, Growth delay, Bile duct proliferation, ...	OMIM:613027
Diaphyseal Medullary Stenosis With Malignant Fibrous Histiocytoma	Osteopenia, Stenosis of the medullary cavity of the long bones, Diaphyseal cortical sclerosis, Pa...	OMIM:112250
Dystonia 1, Torsion, Autosomal Dominant	Torticollis, Multiple joint contractures, Generalized dystonia, Writer's cramp, Tremor, Inability...	OMIM:128100
Nk-Cell Enteropathy	Abdominal pain, Increased T cell count, Diarrhea, Hematochezia, Gastroesophageal reflux, Constipa...	ORPHA:263665
Combined Immunodeficiency-Enteropathy Spectrum	Absent eyebrow, Autoimmune hemolytic anemia, Psoriasiform dermatitis, Abdominal distention, Hepat...	ORPHA:436252
Classic Pantothenate Kinase-Associated Neurodegeneration	Generalized dystonia, Inability to walk, Increased susceptibility to fractures, Weight loss, Opis...	ORPHA:216866
Wiedemann-Rautenstrauch Syndrome	Osteopenia, Decreased response to growth hormone stimulation test, Tremor, Hypoplastic vertebral ...	ORPHA:3455
Hydrops, Lactic Acidosis, And Sideroblastic Anemia	Sideroblastic anemia, Extramedullary hematopoiesis, Anemia, Increased mean corpuscular volume, De...	OMIM:617021
Immunodeficiency 87 And Autoimmunity	Decreased proportion of CD4-positive T cells, Hemolytic anemia, Lymphopenia, Autoimmune hemolytic...	OMIM:619573
8Q24.3 Microdeletion Syndrome	Ectopic posterior pituitary, Congenital hip dislocation, Micromelia, Feeding difficulties in infa...	ORPHA:508488
Hoyeraal-Hreidarsson Syndrome	Abnormal leukocyte morphology, Ataxia, Short stature, Anemia, Bone marrow hypocellularity, Intrau...	ORPHA:3322
Mucolipidosis Ii Alpha/Beta	Osteopenia, Micrognathia, Cardiomegaly, Metaphyseal widening, Hepatomegaly, Hypoplasia of the odo...	OMIM:252500
Wilson Disease	Acute hepatic failure, Tremor, Osteoarthritis, Pedal edema, Hand tremor, Vomiting, Limb dystonia,...	OMIM:277900
Pseudomyxoma Peritonei	Abnormal peritoneum morphology, Nausea and vomiting, Intestinal obstruction, Abdominal pain, Lymp...	ORPHA:26790
Fucosidosis	Hepatomegaly, Absent/hypoplastic paranasal sinuses, Coxa valga, Cardiomegaly, Splenomegaly, Vacuo...	OMIM:230000
Thrombocytopenia 5	B Acute Lymphoblastic Leukemia, Anemia, Increased mean corpuscular volume, Neutropenia, Thrombocy...	OMIM:616216
Stormorken Syndrome	Howell-Jolly bodies, Short stature, Asplenia, Anemia, Hypoplastic spleen, Thrombocytopenia	OMIM:185070
Deafness, Autosomal Dominant 34, With Or Without Inflammation	Arthritis, Lymphadenopathy	OMIM:617772
Inflammatory Bowel Disease (Crohn Disease) 1	Intestinal obstruction, Abdominal pain, Diarrhea, Ulcerative colitis, Growth delay, Inflammation ...	OMIM:266600
Acute Generalized Exanthematous Pustulosis	Predominantly dermal neutrophilic infiltrate, Neutrophilia, Eosinophilia, Pustule, Leukocytosis, ...	ORPHA:293173
Hyperparathyroidism, Neonatal Severe	Hepatomegaly, Recurrent fractures, Feeding difficulties in infancy, Splenomegaly, Primary hyperpa...	OMIM:239200
Schinzel-Giedion Midface Retraction Syndrome	Increased density of long bones, Wide distal femoral metaphysis, Postaxial hand polydactyly, Apla...	OMIM:269150
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase	Methemoglobinemia, Polycythemia	OMIM:250800
Erythrocytosis, Familial, 7	Increased hematocrit, Polycythemia	OMIM:617981
Juvenile Polyposis Of Infancy	Refractory anemia, Gastrointestinal hemorrhage, Subcutaneous lipoma, Cachexia, Abdominal pain, Di...	ORPHA:79076
Abetalipoproteinemia	Osteopenia, Cardiomegaly, Dysmetria, Gait ataxia, Steppage gait, Hepatic fibrosis, Vomiting, Hepa...	ORPHA:14
Congenital Disorder Of Glycosylation, Type Id	Failure to thrive, Long fingers, Diarrhea, Flexion contracture, Vomiting, Talipes equinovarus, Ar...	OMIM:601110
Ornithine Transcarbamylase Deficiency	Splenomegaly, Hepatic failure	ORPHA:664
Drug-Induced Autoimmune Hemolytic Anemia	Splenomegaly, Autoimmune hemolytic anemia	ORPHA:90037
Dopamine Beta-Hydroxylase Deficiency	Bilateral ptosis, Diarrhea, Rhinitis, Vomiting, Anemia	ORPHA:230
Homozygous 11P15-P14 Deletion Syndrome	Feeding difficulties in infancy, Diarrhea, Vomiting	OMIM:606528
Raine Syndrome	Bowing of the long bones, Increased bone mineral density, Micromelia, Micrognathia, Subperiosteal...	OMIM:259775
Neurodegeneration And Seizures Due To Copper Transport Defect	Short femur, Cardiomegaly, Talipes equinovarus, Short tibia, Lethargy	OMIM:620306
Primary Familial Polycythemia	Polycythemia, Abnormal hemoglobin	ORPHA:90042
Multiple Myeloma	Osteopenia, Splenomegaly, Functional abnormality of the gastrointestinal tract, Lymphadenopathy, ...	ORPHA:29073
Proteus-Like Syndrome	Thymus hyperplasia, Genu recurvatum, Lower limb asymmetry, Splenomegaly, Abnormality of the parat...	ORPHA:2969
Pulmonary Non-Tuberculous Mycobacterial Infection	Diarrhea, Bronchiectasis, Lymphadenopathy	ORPHA:411703
Gaucher Disease, Perinatal Lethal	Hepatomegaly, Decreased body weight, Akinesia, Micrognathia, Cardiomegaly, Splenomegaly, Hepatosp...	OMIM:608013
Satoyoshi Syndrome	Pes planus, Short metacarpal, Diarrhea, Short metatarsal, Osteolytic defects of the phalanges of ...	OMIM:600705
Diarrhea 8, Secretory Sodium, Congenital	Abdominal distention, Inflammation of the large intestine, Secretory diarrhea	OMIM:616868
Lipodystrophy, Congenital Generalized, Type 4	Osteopenia, Hepatomegaly, Lipodystrophy, Splenomegaly, Flexion contracture, Osteoporosis, Ileus, ...	OMIM:613327
Erythrocytosis, Familial, 2	Increased red blood cell mass, Increased hematocrit, Increased hemoglobin	OMIM:263400
Japanese Encephalitis	Neutrophilia, Genu recurvatum, Stiff neck, Anorexia, Abdominal pain, Tremor, Diarrhea, Elbow flex...	ORPHA:79139
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant	Hemolytic anemia, Increased mean platelet volume, Impaired ristocetin-induced platelet aggregatio...	OMIM:153670
Igg4-Related Ophthalmic Disease	Sinusitis, Cholangitis, Abnormal morphology of bony orbit of skull, Abnormal eyelid morphology, A...	ORPHA:449563
Myelofibrosis	Myelofibrosis, Splenomegaly, Myeloproliferative disorder	OMIM:254450
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency	Gastrointestinal hemorrhage, Hepatomegaly, Poor appetite, Jaundice, Diarrhea, Cholestasis, Hepato...	ORPHA:247598
Polycythemia Vera	Myelofibrosis, Hepatomegaly, Gastrointestinal hemorrhage, Portal hypertension, Abdominal pain, Po...	ORPHA:729
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)	Hepatomegaly, Portal hypertension, Feeding difficulties in infancy, Splenomegaly, Micronodular ci...	OMIM:251880
Ectodermal Dysplasia And Immunodeficiency 2	Hepatomegaly, Anhidrosis, Splenomegaly, Defective production of NFKB1-dependent cytokines, Chroni...	OMIM:612132
Dyskeratosis Congenita, Autosomal Dominant 1	Aplastic anemia, Ataxia, Hepatic necrosis, Anemia, Leukopenia, Interstitial pneumonitis, Increase...	OMIM:127550
Benign Recurrent Intrahepatic Cholestasis	Nausea and vomiting, Anorexia, Abdominal pain, Jaundice, Chronic diarrhea, Acholic stools, Choles...	ORPHA:65682
Mucopolysaccharidosis Type 6	Epiphyseal dysplasia, Joint stiffness, Splenomegaly, Genu valgum, Hernia, Abnormal metaphysis mor...	ORPHA:583
Sandhoff Disease	Hepatomegaly, Ataxia, Cardiomegaly, Chronic diarrhea, Episodic abdominal pain, Hepatosplenomegaly...	OMIM:268800
Niemann-Pick Disease, Type C2	Hepatomegaly, Ataxia, Bone-marrow foam cells, Fetal ascites, Splenomegaly, Jaundice, Dysphagia, S...	OMIM:607625
Fish-Eye Disease	Splenomegaly, Lymphadenopathy, Hepatomegaly	ORPHA:79292
Tangier Disease	Hepatomegaly, Cicatricial ectropion, Splenomegaly, Left ventricular hypertrophy, Ectropion	OMIM:205400
Neuroendocrine Tumor Of The Rectum	Hepatomegaly, Chronic noninfectious lymphadenopathy, Anorexia, Bowel urgency, Abdominal pain, Lac...	ORPHA:100081
Neuroendocrine Tumor Of Anal Canal	Hepatomegaly, Chronic noninfectious lymphadenopathy, Anorexia, Bowel urgency, Abdominal pain, Lac...	ORPHA:100082
Mucopolysaccharidosis Type 3	Adenoiditis, Cardiomegaly, Flexion contracture, Reduced bone mineral density, Loss of ambulation,...	ORPHA:581
Pseudo-Torch Syndrome 1	Microretrognathia, Hepatomegaly, Splenomegaly, Jaundice, Decreased liver function, Dystonia, Umbi...	OMIM:251290
Addison Disease	Normocytic anemia, Nausea and vomiting, Decreased circulating cortisol level, Hypoparathyroidism,...	ORPHA:85138
Hypoparathyroidism-Retardation-Dysmorphism Syndrome	Decreased response to growth hormone stimulation test, Patchy osteosclerosis, Micrognathia, Crypt...	OMIM:241410
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome	Osteopenia, Multiple joint contractures, Micrognathia, Metaphyseal widening, Arachnodactyly, Oste...	ORPHA:536467
Medium Chain Acyl-Coa Dehydrogenase Deficiency	Hepatomegaly, Ataxia, Cardiomegaly, Diarrhea, Vomiting, Decreased liver function, Lethargy, Hepat...	ORPHA:42
Gm1-Gangliosidosis, Type I	Hepatomegaly, Inguinal hernia, Joint stiffness, Splenomegaly, Vacuolated lymphocytes, Hypoplastic...	OMIM:230500
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)	Cachexia, Diarrhea, Gait ataxia, Feeding difficulties, Weight loss, Vomiting, Failure to thrive	OMIM:612075
Dyskeratosis Congenita, Digenic	Sparse eyelashes, Short stature, Bilateral ptosis, Decreased circulating total IgM, Gastroesophag...	OMIM:620040
Chromosome 19P13.13 Deletion Syndrome	Abdominal pain, Diarrhea, Feeding difficulties, Constipation, Vomiting, Downslanted palpebral fis...	OMIM:613638
Congenital Dyserythropoietic Anemia Type Iii	Short stature, Anisocytosis, Abnormal erythrocyte morphology, Melena, Increased mean corpuscular ...	ORPHA:98870
Immunodeficiency 58	Recurrent cutaneous abscess formation, Helicobacter pylori infection, Short stature, Eczema, Alle...	OMIM:618131
Distal Renal Tubular Acidosis	Hemolytic anemia, Osteomalacia, Poor appetite, Diarrhea, Rickets, Reduced bone mineral density, I...	ORPHA:18
Neuropathy, Hereditary Sensory And Autonomic, Type Vii	Diarrhea, Constipation, Hyperhidrosis	OMIM:615548
Pycnodysostosis	Increased bone mineral density, Aplastic clavicle, Micrognathia, Absent frontal sinuses, Osteolyt...	OMIM:265800
Trichohepatoenteric Syndrome 1	Hepatomegaly, Short stature, Increased mean platelet volume, Splenomegaly, Abnormality of the pan...	OMIM:222470
Secondary Short Bowel Syndrome	Small intestinal dysmotility, Abdominal distention, Diarrhea, Malnutrition, Enterocolitis, Choles...	ORPHA:95427
Sanjad-Sakati Syndrome	Hypoparathyroidism, Intestinal obstruction, Abnormal dental enamel morphology, Patchy osteosclero...	ORPHA:2323
Hereditary Central Diabetes Insipidus	Growth delay, Lethargy, Diarrhea, Vomiting	ORPHA:30925
Dohle Bodies And Leukemia	Acute myeloid leukemia, Leukocyte inclusion bodies, Anemia	OMIM:223350
Liver Disease, Severe Congenital	Chronic gastritis, Cardiomegaly, Biliary hyperplasia, Leukopenia, Vomiting, Lymphocytosis, Elevat...	OMIM:619991
Congenital Hyperinsulinism Due To Hnf4A Deficiency	Hepatomegaly, Large for gestational age, Tremor, Diarrhea, Increased body weight, Pancreatic isle...	ORPHA:263455
Microscopic Polyangiitis	Episcleritis, Increased inflammatory response, Pericarditis, Sinusitis, Skin rash, Nausea and vom...	ORPHA:727
Proteasome-Associated Autoinflammatory Syndrome 1	Increased circulating interleukin 6 concentration, Microcytic anemia, Cardiomegaly, Increased cir...	OMIM:256040
Hemorrhagic Fever-Renal Syndrome	Increased circulating interleukin 6 concentration, Pneumonia, Glomerulonephritis, Abdominal pain,...	ORPHA:340
Melas	Hypoparathyroidism, Intestinal pseudo-obstruction, Ataxia, Short stature, Gastrointestinal dysmot...	ORPHA:550
Retinal Dystrophy And Microvillus Inclusion Disease	Osteopenia, Chronic diarrhea	OMIM:619446
Rh Deficiency Syndrome	Hemolytic anemia, Macrocytic anemia, Reticulocytosis, Anisocytosis, Jaundice, Spherocytosis, Hepa...	ORPHA:71275
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis	Hepatomegaly, Sparse eyelashes, Portal hypertension, Sparse eyebrow, Splenomegaly, Jaundice, Chol...	OMIM:607626
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy	Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Hepatomegaly, ...	ORPHA:280365
Kasabach-Merritt Syndrome	Reticulocytosis, Abdominal pain, Thrombocytopenia, Abdominal distention, Abnormal lymphatic vesse...	ORPHA:2330
Ileal Neuroendocrine Tumor	Functional intestinal obstruction, Gastrointestinal obstruction, Extrahepatic cholestasis, Lympha...	ORPHA:100078
Trichohepatoneurodevelopmental Syndrome	Gastroesophageal reflux, Bilateral coxa valga, Clinodactyly of the 5th finger, Joint laxity, Hepa...	OMIM:618268
Diarrhea 12, With Microvillus Atrophy	Osteopenia, Abdominal distention, Secretory diarrhea, Dependency on parenteral nutrition, Vomiting	OMIM:619445
Medullary Thyroid Carcinoma	Diarrhea, Primary hyperparathyroidism, Abnormal liver parenchyma morphology, Lymphadenopathy, Hyp...	ORPHA:1332
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly	Congenital hip dislocation, Abnormal finger flexion crease, Aplasia/Hypoplasia of the 5th finger,...	OMIM:228930
Primary Sclerosing Cholangitis	Acute hepatic failure, Abnormal eosinophil morphology, Uveitis, Hepatic fibrosis, Neoplasm of the...	ORPHA:171
Combined Oxidative Phosphorylation Deficiency 41	Intrauterine growth retardation, Decreased circulating cortisol level, Anemia, Cardiomegaly	OMIM:618838
Nephronophthisis 19	Hepatomegaly, Malformation of the hepatic ductal plate, Splenomegaly, Cholestasis, Bile duct prol...	OMIM:616217
Autoimmune Hemolytic Anemia, Warm Type	Splenomegaly, Autoimmune hemolytic anemia, Jaundice, Chronic lymphatic leukemia	ORPHA:90033
Methylmalonic Aciduria, Cblb Type	Hepatomegaly, Pancytopenia, Feeding difficulties in infancy, Anemia, Vomiting, Neutropenia, Letha...	OMIM:251110
Sclerosing Cholangitis, Neonatal	Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Biliary cirrhosis, Cholestasis, Sclero...	OMIM:617394
Carnitine Deficiency, Systemic Primary	Hepatomegaly, Cardiomegaly, Microvesicular hepatic steatosis, Diarrhea, Vomiting, Lethargy, Decre...	OMIM:212140
Congenital Lipomatous Overgrowth, Vascular Malformations, And Epidermal Nevi	Sandal gap, Macrodactyly, Lower limb asymmetry, Splenomegaly, Cranial hyperostosis, Lipoma	OMIM:612918
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1	Reticulocytosis, Diarrhea, Schistocytosis, Microangiopathic hemolytic anemia, Thrombocytopenia	OMIM:235400
Primary Hepatic Neuroendocrine Carcinoma	Hepatomegaly, Ptosis, Intrahepatic cholestasis with episodic jaundice, Chronic noninfectious lymp...	ORPHA:100085
Adams-Oliver Syndrome 6	Syndactyly, Portal hypertension, Splenomegaly, Foot oligodactyly, Hepatic fibrosis, Brachydactyly	OMIM:616589
Hurler Syndrome	Hepatomegaly, Camptodactyly of finger, Abnormality of the tonsils, Splenomegaly, Chronic diarrhea...	ORPHA:93473
Idiopathic Aplastic Anemia	Pancytopenia, Reticulocytopenia, Anemia, Bone marrow hypocellularity, Neutropenia, Thrombocytopenia	ORPHA:88
Mpi-Cdg	Gastrointestinal hemorrhage, Hepatomegaly, Portal hypertension, Diarrhea, Hepatic fibrosis, Vomit...	ORPHA:79319
Catel-Manzke Syndrome	Joint laxity, Short humerus, Short metacarpal, Short femur, Inguinal hernia, Micrognathia, Crypto...	OMIM:616145
Refsum Disease	Short metacarpal, Ataxia, Splenomegaly, Abnormal foot morphology, Hammertoe, Abnormal epiphysis m...	ORPHA:773
Yellow Fever	Acute pancreatitis, Neutrophilia, Skin rash, Increased circulating interleukin 6 concentration, A...	ORPHA:99829
Immunodeficiency 56	Recurrent infection of the gastrointestinal tract, Cholangitis, Recurrent pneumonia, Chronic diar...	OMIM:615207
Congenital Myopathy 20	Ulnar deviation of the hand, Elbow contracture, Toe joint contracture, Micrognathia, Chronic diar...	OMIM:620310
Atypical Werner Syndrome	Sclerosis of hand bone, Micrognathia, Reduced bone mineral density, Finger clinodactyly, Short pa...	ORPHA:79474
Malonyl-Coa Decarboxylase Deficiency	Short stature, Abdominal pain, Diarrhea, Chronic constipation, Constipation, Vomiting	OMIM:248360
Tangier Disease	Orange discolored tonsils, Chronic noninfectious lymphadenopathy, Abdominal pain, Hepatosplenomeg...	ORPHA:31150
Coach Syndrome 1	Hepatomegaly, Ataxia, Portal hypertension, Splenomegaly, Abnormal abdomen morphology, Growth dela...	OMIM:216360
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia	Hypoplastic pubic ramus, Proximal placement of thumb, Micrognathia, Short metatarsal, Patellar hy...	OMIM:609945
Hirschsprung Disease	Nausea and vomiting, Intestinal obstruction, Failure to thrive in infancy, Abdominal pain, Diarrh...	ORPHA:388
Paget Disease Of Bone 3	Fractures of the long bones, Osteolysis, Patchy osteosclerosis	OMIM:167250
Infantile Liver Failure Syndrome 3	Acute hepatic failure, Hepatomegaly, Abnormal acetabulum morphology, Abnormality of the epiphysis...	OMIM:618641
Congenital Disorder Of Glycosylation, Type Ib	Hepatomegaly, Diarrhea, Hepatic fibrosis, Vomiting, Cirrhosis, Steatorrhea, Hepatic failure, Lymp...	OMIM:602579
Leptospirosis	Nausea and vomiting, Hepatomegaly, Pericarditis, Skin rash, Anorexia, Abdominal pain, Jaundice, D...	ORPHA:509
Parenteral Nutrition-Associated Cholestasis	Hepatomegaly, Portal hypertension, Abdominal pain, Biliary hyperplasia, Splenomegaly, Jaundice, A...	ORPHA:567983
Peroxisome Biogenesis Disorder 5A (Zellweger)	Micrognathia, Feeding difficulties in infancy, Lethargy, Intrahepatic biliary dysgenesis, Hepatom...	OMIM:614866
Neuroendocrine Tumor Of The Colon	Hepatomegaly, Chronic noninfectious lymphadenopathy, Anorexia, Bowel urgency, Abdominal pain, Lac...	ORPHA:100080
Hydatidiform Mole	Nausea and vomiting, Hyperthyroidism, Anemia	ORPHA:99927
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities	Osteopenia, Epiphyseal dysplasia, Congenital hip dislocation, Micrognathia, Splenomegaly, Inabili...	OMIM:617913
Mucolipidosis Type Ii	Hip contracture, Inguinal hernia, Craniosynostosis, Limited wrist movement, Splenomegaly, Inabili...	ORPHA:576
Porphyria, Congenital Erythropoietic	Osteopenia, Hemolytic anemia, Hepatomegaly, Splenomegaly, Jaundice, Osteolysis, Corneal scarring,...	OMIM:263700
Leukocyte Adhesion Deficiency, Type I	Osteomyelitis, Leukocytosis, Chronic diarrhea, Chronic mucocutaneous candidiasis, Periodontitis, ...	OMIM:116920
Dyskeratosis Congenita	Neoplasm of the pancreas, Hepatomegaly, Recurrent fractures, Abnormality of neutrophils, Thromboc...	ORPHA:1775
Hyperlipoproteinemia, Type I	Nausea, Splenomegaly, Jaundice, Hepatosplenomegaly, Episodic abdominal pain, Vomiting, Pancreatitis	OMIM:238600
Sporadic Infantile Bilateral Striatal Necrosis	Gait ataxia, Bradykinesia, Titubation, Gait disturbance, Dysphagia, Abnormal posturing, Poor suck...	ORPHA:225147
Alg9-Cdg	Micrognathia, Narrow greater sciatic notch, Vomiting, Gastroesophageal reflux, Abnormal bone ossi...	ORPHA:79328
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis	Hepatomegaly, Limb joint contracture, Ataxia, Postural tremor, Tapered finger, Splenomegaly, Micr...	OMIM:301072
Secondary Intestinal Lymphangiectasia	Decreased circulating IgG1 level, Abdominal colic, Intestinal obstruction, Chronic diarrhea, Chyl...	ORPHA:90363
Sialuria	Hepatomegaly, Epicanthus, Splenomegaly, Synophrys, Protuberant abdomen	OMIM:269921
Cushing Syndrome Due To Ectopic Acth Secretion	Pancreatic adenocarcinoma, Adrenal hyperplasia, Dorsocervical fat pad, Pancreatoblastoma, Anorexi...	ORPHA:99889
Intellectual Developmental Disorder, Autosomal Dominant 57	Epicanthus, Telecanthus, Short stature, Diarrhea, Feeding difficulties, Upslanted palpebral fissu...	OMIM:618050
Diarrhea 4, Malabsorptive, Congenital	Diarrhea, Vomiting	OMIM:610370
Behçet Disease	Myositis, Anorexia, Infectious encephalitis, Acne, Ataxia, Abdominal pain, Retrobulbar optic neur...	ORPHA:117
Sarcoidosis	Hemolytic anemia, Hepatomegaly, Parotitis, Eosinophilia, Scarring, Portal hypertension, Increased...	ORPHA:797
Congenital Erythropoietic Porphyria	Osteopenia, Hemolytic anemia, Reticulocytosis, Scarring, Anisocytosis, Increased connective tissu...	ORPHA:79277
Intellectual Developmental Disorder, Autosomal Dominant 51	Epicanthus, Chronic diarrhea, Feeding difficulties, Chronic constipation, Recurrent otitis media,...	OMIM:617788
Combined Malonic And Methylmalonic Aciduria	Diarrhea, Vomiting	OMIM:614265
Tyrosinemia, Type I	Acute hepatic failure, Hepatomegaly, Gastrointestinal hemorrhage, Splenomegaly, Paralytic ileus, ...	OMIM:276700
Yao Syndrome	Inflammatory abnormality of the skin, Pericarditis, Skin rash, Abdominal pain, Diarrhea, Xerostom...	OMIM:617321
Vulvovaginal Gingival Syndrome	Abnormality of tumor necrosis factor secretion	ORPHA:83453
Epidermolysis Bullosa Dystrophica, Autosomal Recessive	Malnutrition, Growth delay, Constipation, Conjunctivitis, Dysphagia, Anemia	OMIM:226600
Mitochondrial Complex Iv Deficiency, Nuclear Type 6	Hepatic steatosis, Bloody diarrhea, Feeding difficulties	OMIM:615119
Lassa Fever	Nausea and vomiting, Abdominal pain, Jaundice, Diarrhea, Increased circulating IgM level, Conjunc...	ORPHA:99824
Grfoma	Anorexia, Poor appetite, Neoplasm of the thymus, Lack of bowel sounds, Hepatomegaly, Intermittent...	ORPHA:97261
Hermansky-Pudlak Syndrome 10	Hepatomegaly, Splenomegaly, Feeding difficulties, Neutropenia	OMIM:617050
Kagami-Ogata Syndrome	Omphalocele, Hepatomegaly, Inguinal hernia, Coxa valga, Micrognathia, Long fingers, Splenomegaly,...	OMIM:608149
Meige Disease	Recurrent skin infections, Lymph node hypoplasia, Recurrent bacterial skin infections, Absence of...	ORPHA:90186
Middle Ear Neuroendocrine Tumor	Chronic diarrhea, Chronic noninfectious lymphadenopathy	ORPHA:100084
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia	Decreased hemoglobin concentration, Hepatomegaly, Highly arched eyebrow, Chronic diarrhea, Chroni...	OMIM:619005
Vipoma	Anorexia, Poor appetite, Secretory diarrhea, Hepatomegaly, Intermittent jaundice, Hematochezia, N...	ORPHA:97282
Cystic Fibrosis	Hepatomegaly, Meconium ileus, Diarrhea, Recurrent pneumonia, Ileus, Biliary cirrhosis, Bronchiect...	OMIM:219700
Juvenile Polyposis Syndrome	Abdominal pain, Diarrhea, Clubbing, Hematochezia, Failure to thrive, Anemia	OMIM:174900
Mcleod Syndrome	Hepatomegaly, Splenomegaly, Acanthocytosis	OMIM:300842
Sarcoidosis, Susceptibility To, 1	Hepatomegaly, Pancytopenia, Generalized lymphadenopathy, Anorexia, Splenomegaly, Mediastinal lymp...	OMIM:181000
Hajdu-Cheney Syndrome	Osteopenia, Micrognathia, Absent frontal sinuses, Hernia, Decreased skull ossification, Partial a...	ORPHA:955
D-Bifunctional Protein Deficiency	Osteopenia, Hepatomegaly, Fetal ascites, Micrognathia, Feeding difficulties in infancy, Splenomeg...	OMIM:261515
Myopathy, Myofibrillar, 1	Diarrhea, Constipation	OMIM:601419
Attrv30M Amyloidosis	Diarrhea, Constipation, Cardiomegaly	ORPHA:85447
Diamond-Blackfan Anemia 20	Erythroid hypoplasia, Anemia	OMIM:618313
Osteogenesis Imperfecta	Osteopenia, Micromelia, Micrognathia, Abnormal tibia morphology, Flexion contracture, Osteoarthri...	ORPHA:666
Hereditary Cryohydrocytosis With Reduced Stomatin	Spontaneous hemolytic crises, Ataxia, Short stature, Postnatal growth retardation, Jaundice, Hepa...	ORPHA:168577
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome	Hepatomegaly, Portal hypertension, Splenomegaly, Micronodular cirrhosis, Jaundice, Copper accumul...	ORPHA:309854
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)	Acute hepatic failure, Microvesicular hepatic steatosis, Osteomyelitis leading to amputation due ...	OMIM:256810
Bronchial Neuroendocrine Tumor	Hepatomegaly, Pneumonia, Poor appetite, Chronic noninfectious lymphadenopathy, Anorexia, Bowel ur...	ORPHA:97287
Fanconi Anemia, Complementation Group F	Short stature, Pneumonia, Decreased response to growth hormone stimulation test, Anemia, Leukopen...	OMIM:603467
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism	Hepatomegaly, Epicanthus, Portal hypertension, Pancreatic cysts, Splenomegaly, Hepatitis, Cholest...	OMIM:610199
Acute Adrenal Insufficiency	Normocytic anemia, Nausea and vomiting, Decreased circulating cortisol level, Anorexia, Abdominal...	ORPHA:95409
Cutaneous Neuroendocrine Carcinoma	Lymphoid leukemia, Chronic noninfectious lymphadenopathy	ORPHA:79140
Colchicine Poisoning	Myocarditis, Leukocytosis, Diarrhea, Vomiting, Nausea	ORPHA:31824
Short-Rib Thoracic Dysplasia 12	Bowing of the legs, Short palm, Neonatal death, Hepatomegaly, Short toe, Short ribs, Bowing of th...	OMIM:269860
Copper Deficiency, Familial Benign	Anemia, Seborrheic dermatitis	OMIM:121270
Carnitine Palmitoyltransferase I Deficiency	Hepatomegaly, Cardiomegaly, Diarrhea, Feeding difficulties, Lethargy, Hepatic steatosis	OMIM:255120
Diarrhea 13	Hepatic steatosis, Secretory diarrhea, Vomiting	OMIM:620357
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome	Hepatomegaly, Postnatal growth retardation, Splenomegaly, Pancreatic lymphangiectasis, Abdominal ...	ORPHA:1655
Trichothiodystrophy 5, Nonphotosensitive	Broad-based gait, Short stature, Sparse eyebrow, Chronic diarrhea, Chronic decreased circulating ...	OMIM:300953
Methylmalonic Aciduria, Cbla Type	Hepatomegaly, Pancytopenia, Feeding difficulties in infancy, Anemia, Vomiting, Neutropenia, Letha...	OMIM:251100
Joubert Syndrome With Hepatic Defect	Hepatomegaly, Ataxia, Portal hypertension, Highly arched eyebrow, Feeding difficulties in infancy...	ORPHA:1454
Chops Syndrome	Gastroparesis, Short stature, Splenomegaly, Synophrys, Constipation, Gastroesophageal reflux, Asp...	OMIM:616368
Adult Intestinal Botulism	Diarrhea, Ptosis	ORPHA:178487
Mucoepithelial Dysplasia, Hereditary	Pneumonia, Eosinophilia, Recurrent pneumonia, Chronic diarrhea, Chronic mucocutaneous candidiasis...	OMIM:158310
Oculoskeletodental Syndrome	Hepatomegaly, Epicanthus, Short stature, Splenomegaly, Hypothyroidism	OMIM:618440
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Long toe, Hepatomegaly, Tapered toe, Tapered finger, Feeding difficulties in infancy, Long finger...	OMIM:608836
Hurler-Scheie Syndrome	Hepatomegaly, Inguinal hernia, Camptodactyly of finger, Micrognathia, Joint stiffness, Splenomega...	OMIM:607015
Cogan Syndrome	Episcleritis, Keratitis, Leukocytosis, Uveitis, Scleritis, Conjunctivitis, Thrombocytosis, Inflam...	ORPHA:1467
Aa Amyloidosis	Hepatomegaly, Abdominal pain, Chronic diarrhea, Malnutrition, Cholestasis, Vomiting, Adrenal insu...	ORPHA:85445
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 4A	Spastic ataxia, Generalized dystonia, Dystonia, Chronic diarrhea, Feeding difficulties, Dysphagia...	OMIM:620358
Deeah Syndrome	Decreased hemoglobin concentration, Hepatomegaly, Epicanthus, Short stature, Decreased response t...	OMIM:619004
Diarrhea 6	Chronic diarrhea, Crohn's disease, Abdominal pain	OMIM:614616
Thymic Neuroendocrine Tumor	Osteopenia, Pancreatic islet cell adenoma, Chronic noninfectious lymphadenopathy, Pituitary null ...	ORPHA:97289
Central Diabetes Insipidus	Nausea and vomiting, Lethargy, Diarrhea, Anorexia	ORPHA:178029
Maculopapular Cutaneous Mastocytosis	Diarrhea, Vomiting, Nausea, Abdominal pain	ORPHA:79457
Dent Disease	Enlarged epiphyses, Bulging epiphyses, Enlargement of the ankles, Osteomalacia, Recurrent fractur...	ORPHA:1652
Pleural Mesothelioma	Hepatomegaly, Weight loss, Dysphagia, Lymphadenopathy	ORPHA:50251
Familial Thrombocytosis	Acute myeloid leukemia, Splenomegaly, Chronic myelogenous leukemia, Hyperhidrosis, Thrombocytosis	ORPHA:71493
Adams-Oliver Syndrome 5	Syndactyly, Inguinal hernia, Hypersplenism, Splenomegaly, Portal vein thrombosis, Right ventricul...	OMIM:616028
Carcinoid Syndrome	Nausea and vomiting, Chronic noninfectious lymphadenopathy, Lack of bowel sounds, Hepatic necrosi...	ORPHA:100093
Granulomatous Slack Skin	Abnormal lymph node morphology	ORPHA:33111
Reynolds Syndrome	Gastrointestinal hemorrhage, Hepatomegaly, Erythema nodosum, Splenomegaly, Jaundice, Biliary cirr...	OMIM:613471
Citrullinemia Type Ii	Hepatomegaly, Diarrhea, Hepatic fibrosis, Vomiting, Hepatocellular carcinoma, Lethargy, Delayed m...	ORPHA:247585
Lactase Deficiency, Congenital	Diarrhea	OMIM:223000
Scheie Syndrome	Splenomegaly, Rhinitis, Hepatomegaly	ORPHA:93474
Sucrase-Isomaltase Deficiency, Congenital	Diarrhea, Abdominal pain	OMIM:222900
Hyperprolinemia Type 2	Abdominal pain, Diarrhea, Unsteady gait, Feeding difficulties, Dysphagia	ORPHA:79101
Williams Syndrome	Osteopenia, Micrognathia, Cardiomegaly, Tremor, Dysmetria, Gastroesophageal reflux, Clinodactyly ...	ORPHA:904
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome	Poor appetite, Diarrhea, Dysphagia, Nausea, Ptosis	ORPHA:352447
Gastrointestinal Stromal Tumor	Nausea and vomiting, Gastrointestinal hemorrhage, Intestinal obstruction, Skin rash, Abnormality ...	ORPHA:44890
Hereditary Fructose Intolerance	Hepatomegaly, Abdominal pain, Abdominal distention, Jaundice, Diarrhea, Episodic hyperhidrosis, G...	ORPHA:469
Mucopolysaccharidosis, Type Vi	Epiphyseal dysplasia, Inguinal hernia, Hepatomegaly, Joint stiffness, Splenomegaly, Metaphyseal w...	OMIM:253200
Systemic Lupus Erythematosus	Hemolytic anemia, Lymphadenopathy, Leukopenia, Arthritis, Thrombocytopenia	ORPHA:536
Lymphatic Filariasis	Orchitis, Lymphadenitis, Abnormality of the lymphatic system, Hypereosinophilia, Knee osteoarthri...	ORPHA:2035
Cap Polyposis	Atrophic gastritis, Abdominal pain, Abdominal distention, Diarrhea, Hematochezia, Constipation	ORPHA:160148
Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease	Hepatomegaly, Abnormal eyebrow morphology, Telecanthus, Ataxia, Abdominal pain, Splenomegaly, Ile...	ORPHA:163746
Ppoma	Anorexia, Poor appetite, Lack of bowel sounds, Hepatomegaly, Intermittent jaundice, Episodic abdo...	ORPHA:97278
Inflammatory Skin And Bowel Disease, Neonatal, 1	Pustule, Increased circulating IgE level, Bloody diarrhea, Erythroderma, Blepharitis	OMIM:614328
Enteric Anendocrinosis	Diarrhea, Cholestatic liver disease, Vomiting, Portal hypertension	ORPHA:83620
Amyloidosis, Hereditary, Transthyretin-Related	Ataxia, Cardiomegaly, Diarrhea, Limb ataxia, Constipation, Truncal ataxia, Episodic vomiting, Ptosis	OMIM:105210
Ogden Syndrome	Cardiomegaly, Abnormal eyelid morphology, Microvesicular hepatic steatosis, Iron deficiency anemi...	OMIM:300855
Immunodeficiency With Hyper-Igm, Type 5	Lymphadenopathy	OMIM:608106
Lipodystrophy, Congenital Generalized, Type 2	Reduced subcutaneous adipose tissue, Cystic angiomatosis of bone, Hepatomegaly, Acute pancreatiti...	OMIM:269700
Lissencephaly, X-Linked, 2	Micrognathia, Feeding difficulties in infancy, Wide anterior fontanel, Diarrhea, Decreased testic...	OMIM:300215
Immunodeficiency With Hyper-Igm, Type 2	Lymphadenopathy	OMIM:605258
Acute Interstitial Pneumonia	Reduced hematocrit, Lymphadenopathy	ORPHA:79126
Chronic Visceral Acid Sphingomyelinase Deficiency	Osteopenia, Hepatomegaly, Ataxia, Autoimmune thrombocytopenia, Hypersplenism, Splenomegaly, Osteo...	ORPHA:77293
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome	Pancytopenia, Broad-based gait, Abnormality of the spleen, Splenomegaly, Limb ataxia, Hepatosplen...	ORPHA:2072
Multiple Endocrine Neoplasia Type 1	Anorexia, Pituitary corticotropic cell adenoma, Pituitary gonadotropic cell adenoma, Reduced bone...	ORPHA:652
Noonan Syndrome-Like Disorder With Or Without Juvenile Myelomonocytic Leukemia	Juvenile myelomonocytic leukemia, Epicanthus, Short stature, Highly arched eyebrow, Postnatal gro...	OMIM:613563
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum	Anterior uveitis, Inflammatory abnormality of the skin, Skin rash, Pneumonia, Anorexia, Oral-phar...	ORPHA:95455
Chronic Diarrhea Due To Glucoamylase Deficiency	Dyspepsia, Abdominal pain, Abdominal distention, Chronic diarrhea, Vomiting, Nausea	ORPHA:103907
Diamond-Blackfan Anemia 6	Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume	OMIM:612561
Isolated Biliary Atresia	Hepatomegaly, Atretic gallbladder, Splenomegaly, Jaundice, Cholestasis, Xanthelasma, Acholic stoo...	ORPHA:30391
Yunis-Varon Syndrome	Aplasia of the distal phalanges of the hand, Aplasia/Hypoplasia of the scapulae, Micrognathia, Ca...	ORPHA:3472
African Trypanosomiasis	Hepatomegaly, Pericarditis, Akinesia, Keratitis, Splenomegaly, Jaundice, Myocarditis, Diarrhea, L...	ORPHA:3385
Diarrhea 7, Protein-Losing Enteropathy Type	Abdominal colic, Vomiting, Diarrhea	OMIM:615863
Igg4-Related Submandibular Gland Disease	Eosinophilia, Cholangitis, Increased circulating IgG4 level, Retroperitoneal fibrosis, Increased ...	ORPHA:449432
Blau Syndrome	Pericarditis, Skin rash, Keratitis, Splenomegaly, Retrobulbar optic neuritis, Erythema nodosum, I...	ORPHA:90340
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination	Short humerus, Exaggerated startle response, Short femur, Tapered finger, Feeding difficulties, D...	OMIM:618367
Peutz-Jeghers Syndrome	Neoplasm of the pancreas, Bile duct polyp, Abdominal pain, Clubbing, Biliary tract abnormality, B...	OMIM:175200
Hereditary Methemoglobinemia	Methemoglobinemia	ORPHA:621
Combined Malonic And Methylmalonic Acidemia	Vomiting, Dystonia, Intermittent diarrhea, Failure to thrive, Nasogastric tube feeding	ORPHA:289504
Aromatic L-Amino Acid Decarboxylase Deficiency	Feeding difficulties in infancy, Diarrhea, Hyperhidrosis, Blepharospasm, Choreoathetosis, Athetos...	OMIM:608643
Martsolf Syndrome 1	Joint laxity, Pes planus, Short metacarpal, Inguinal hernia, Micrognathia, Metatarsus adductus, S...	OMIM:212720
Hepatoerythropoietic Porphyria	Hemolytic anemia, Recurrent bacterial skin infections, Splenomegaly, Loss of eyelashes, Keratocon...	ORPHA:95159
Primary Triglyceride Deposit Cardiomyovasculopathy	Hepatomegaly, Inflammatory abnormality of the skin, Splenomegaly, Vacuolated lymphocytes, Pancrea...	ORPHA:565612
Toxic Epidermal Necrolysis	Acute hepatic failure, Nausea and vomiting, Gastrointestinal hemorrhage, Entropion, Abdominal pai...	ORPHA:537
Erythermalgia, Primary	Diarrhea, Xerostomia, Hyperhidrosis, Keratoconjunctivitis sicca, Constipation	OMIM:133020
Desmosterolosis	Failure to thrive, Rhizomelia, Micrognathia, Generalized osteosclerosis, Bilateral talipes equino...	OMIM:602398
Hardikar Syndrome	Intrahepatic bile duct cysts, Cholangitis, Hepatic fibrosis, Vomiting, Intrahepatic bile duct dil...	OMIM:301068
Diarrhea 2, With Microvillus Atrophy, With Or Without Cholestasis	Growth delay, Malnutrition, Protracted diarrhea	OMIM:251850
Primary Sjögren Syndrome	Normocytic anemia, Chronic active hepatitis, Parotitis, Xerostomia, Biliary cirrhosis, Lymphadeno...	ORPHA:289390
Lipodystrophy, Congenital Generalized, Type 1	Reduced subcutaneous adipose tissue, Cystic angiomatosis of bone, Hepatomegaly, Acute pancreatiti...	OMIM:608594
Pigmentary Disorder, Reticulate, With Systemic Manifestations, X-Linked	Increased circulating interleukin 8 concentration, Recurrent pneumonia, Chronic diarrhea, Bronchi...	OMIM:301220
Cockayne Syndrome B	Reduced subcutaneous adipose tissue, Hepatomegaly, Ataxia, Small for gestational age, Tremor, Spl...	OMIM:133540
Apolipoprotein C-Ii Deficiency	Splenomegaly, Pancreatitis, Hepatomegaly	OMIM:207750
Hyperzincemia With Functional Zinc Depletion	Hepatomegaly, Diarrhea, Osteoporosis	OMIM:601979
Neuroendocrine Neoplasm Of Appendix	Nausea and vomiting, Hepatomegaly, Abdominal colic, Functional intestinal obstruction, Chronic no...	ORPHA:100079
Hyperlipoproteinemia, Type Id	Hepatomegaly, Splenomegaly, Colitis, Recurrent pancreatitis, Pancreatitis	OMIM:615947
Pelvis-Shoulder Dysplasia	Waddling gait, Syndactyly, Aplasia/Hypoplasia of the ribs, Aplasia/Hypoplasia of the clavicles, C...	ORPHA:2839
Adiposis Dolorosa	Recurrent skin infections, Diarrhea, Xerostomia, Arthritis, Constipation, Hypothyroidism	ORPHA:36397
Familial Tumoral Calcinosis	Hepatomegaly, Splenomegaly, Hyperostosis	ORPHA:53715
Congenital Disorder Of Glycosylation, Type Iiw	Hepatomegaly, Inguinal hernia, Pes planus, Microcytic anemia, Micrognathia, Splenomegaly, Osteopo...	OMIM:619525
Igg4-Related Dacryoadenitis And Sialadenitis	Myositis, Palpebral edema, Increased circulating IgG4 level, Increased circulating IgA level, Ret...	ORPHA:79078
Malakoplakia	Inflammatory abnormality of the skin, Skin rash, Follicular hyperplasia, Orchitis, Urinary bladde...	ORPHA:556
Cerebrotendinous Xanthomatosis	Ataxia, Diarrhea, Osteoporosis, Ankle clonus, Pseudobulbar paralysis, Difficulty walking, Choleli...	OMIM:213700
Hao-Fountain Syndrome Due To 16P13.2 Microdeletion	Feeding difficulties in infancy, Overweight, Cryptorchidism, Flexion contracture, Small hand, Chr...	ORPHA:500055
Nijmegen Breakage Syndrome	Hemolytic anemia, Autoimmune hemolytic anemia, Short stature, Abnormal eyelid morphology, Recurre...	ORPHA:647
Chikungunya	Joint stiffness, Periostitis, Cervical lymphadenopathy, Ankle joint effusion, Osteolysis, Pedal e...	ORPHA:324625
Inflammatory Bowel Disease 11	Hematochezia, Inflammation of the large intestine, Diarrhea, Abdominal pain	OMIM:191390
Psoriasis-Related Juvenile Idiopathic Arthritis	Anterior uveitis, Psoriasiform dermatitis, Skin rash, Iridocyclitis, Oligoarthritis, Uveitis, Ent...	ORPHA:85436
Mucopolysaccharidosis Type 2	Hepatomegaly, Inguinal hernia, Splenomegaly, Chronic diarrhea, Enlarged tonsils, Limitation of jo...	ORPHA:580
Cockayne Syndrome A	Reduced subcutaneous adipose tissue, Hip contracture, Hepatomegaly, Ataxia, Tremor, Splenomegaly,...	OMIM:216400
Immunodeficiency 27B	Generalized lymphadenopathy, Salmonella osteomyelitis, Osteomyelitis	OMIM:615978
Houge-Janssens Syndrome 1	Chronic diarrhea, Gait ataxia, Intrauterine growth retardation, Downslanted palpebral fissures, P...	OMIM:616355
Neuropathy, Hereditary Sensory And Autonomic, Type V	Anhidrosis, Osteomyelitis, Osteoarthritis, Diarrhea, Constipation, Septic arthritis	OMIM:608654
Diarrhea 5, With Tufting Enteropathy, Congenital	Intractable diarrhea, Arthritis	OMIM:613217
Diarrhea 9	Diarrhea	OMIM:618168
Turcot Syndrome With Polyposis	Ataxia, Abdominal pain, Diarrhea, Pituitary adenoma, Hematochezia, Melena, Vomiting, Constipation...	ORPHA:99818
Joint Contractures, Osteochondromas, And B-Cell Lymphoma	Hip contracture, Generalized lymphadenopathy, Ankle flexion contracture, Knee flexion contracture...	OMIM:620232
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 2	Periostosis, Hyperostosis, Clubbing, Secretory diarrhea	OMIM:614441
Chylomicron Retention Disease	Diarrhea, Malnutrition, Growth delay, Vomiting, Steatorrhea	OMIM:246700
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency	Acute hepatic failure, Proportionate short stature, Feeding difficulties in infancy, Diarrhea, He...	ORPHA:71212
Congenital-Onset Steinert Myotonic Dystrophy	Talipes, Abdominal pain, Encopresis, Diarrhea, Obesity, Constipation, Gastroesophageal reflux, Dy...	ORPHA:589821
Foodborne Botulism	Nausea and vomiting, Abdominal pain, Diarrhea, Xerostomia, Constipation, Dysphagia, Ptosis	ORPHA:228371
Lymphatic Malformation 6	Epicanthus, Short stature, Splenomegaly, Gastroesophageal reflux, Intestinal lymphangiectasia, As...	OMIM:616843
Autosomal Recessive Polycystic Kidney Disease	Cholangitis, Biliary hyperplasia, Abnormal intrahepatic bile duct morphology, Hepatic fibrosis, H...	ORPHA:731
Diarrhea 11, Malabsorptive, Congenital	Diarrhea	OMIM:618662
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type)	Intestinal pseudo-obstruction, Gastroparesis, Abdominal pain, Gastrointestinal dysmotility, Hyper...	OMIM:603041
Aspartylglucosaminuria	Joint laxity, Hepatomegaly, Diarrhea, Hypoplastic frontal sinuses, Vacuolated lymphocytes, Hernia...	OMIM:208400
Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive	Feeding difficulties in infancy, Diarrhea, Pseudohypoaldosteronism, Hyperaldosteronism, Vomiting	OMIM:264350
Renal-Hepatic-Pancreatic Dysplasia 1	Hepatomegaly, Pancreatic fibrosis, Portal hypertension, Malformation of the hepatic ductal plate,...	OMIM:208540
Pancreatoblastoma	Abdominal pain, Abdominal distention, Jaundice, Diarrhea, Abnormal lymph node morphology, Vomitin...	ORPHA:677
Thalidomide Embryopathy	Aplasia/Hypoplasia of the thumb, Aplasia/hypoplasia of the humerus, Preaxial hand polydactyly, Ra...	ORPHA:3312
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16	HbH hemoglobin, Microcytic anemia	ORPHA:98791
Glycogen Storage Disease Ia	Hepatomegaly, Short stature, Delayed puberty, Gout, Growth delay, Xanthelasma, Protuberant abdome...	OMIM:232200
Acute Liver Failure	Gastrointestinal hemorrhage, Skin rash, Ataxia, Jaundice, Diarrhea, Hepatitis, Hepatic necrosis, ...	ORPHA:90062
Intestinal Botulism	Nausea and vomiting, Diarrhea, Xerostomia, Dysphagia, Ptosis	ORPHA:178481
Dyskeratosis Congenita, X-Linked	Acute myeloid leukemia, Pancytopenia, Sparse eyelashes, Ataxia, Short stature, Hyperhidrosis, Ane...	OMIM:305000
Cranioectodermal Dysplasia 2	Unilateral ptosis, Hepatomegaly, Epicanthus, Telecanthus, Sparse eyelashes, Cholangitis, Short st...	OMIM:613610
Gitelman Syndrome	Neoplasm of the pancreas, Nausea and vomiting, Abdominal pain, Diarrhea, Gout, Hyperhidrosis, Iro...	ORPHA:358
Gaucher Disease, Type Iiic	Splenomegaly, Pancytopenia, Cardiomegaly, Hepatomegaly	OMIM:231005
Congenital Disorder Of Glycosylation, Type It	Hepatomegaly, Short stature, Cardiomegaly, Intrahepatic cholestasis, Chronic diarrhea, Hepatitis,...	OMIM:614921
Methanol Poisoning	Diarrhea, Vomiting, Abdominal pain	ORPHA:31825
Sclerosteosis 1	Syndactyly, Sclerotic scapulae, 2-3 finger syndactyly, Facial palsy secondary to cranial hyperost...	OMIM:269500
Generalized Juvenile Polyposis/Juvenile Polyposis Coli	Hematochezia, Growth delay, Anemia	ORPHA:329971
19P13.13 Microdeletion Syndrome	Epicanthus, Abdominal pain, Diarrhea, Functional abnormality of the gastrointestinal tract, Feedi...	ORPHA:357001
Mitochondrial Dna Depletion Syndrome 11	Chronic diarrhea, Nausea, Ptosis	OMIM:615084
Sapho Syndrome	Osteomyelitis, Recurrent fractures, Abdominal pain, Abnormal sacroiliac joint morphology, Craniof...	ORPHA:793
Ulna And Fibula, Absence Of, With Severe Limb Deficiency	Aplasia/hypoplasia of the extremities, Femoral bowing, Foot oligodactyly, Aplasia/Hypoplasia of t...	OMIM:276820
Wrinkly Skin Syndrome	Osteopenia, Pes planus, Inguinal hernia, Congenital hip dislocation, Lipodystrophy, Cryptorchidis...	ORPHA:2834
Paroxysmal Nocturnal Hemoglobinuria	Hemolytic anemia, Reticulocytosis, Pancytopenia, Esophageal spasms, Abnormal erythrocyte enzyme l...	ORPHA:447
Visceral Myopathy 1	Intestinal pseudo-obstruction, Gastroparesis, Abdominal pain, Abdominal distention, Diarrhea, Mal...	OMIM:155310
Papa Syndrome	Arthritis, Limitation of joint mobility, Crohn's disease, Lymphadenopathy	ORPHA:69126
Inflammatory Bowel Disease (Crohn Disease) 30	Gastritis, Abdominal pain, Chronic diarrhea, Pancolitis, Bloody diarrhea, Vomiting, Esophagitis	OMIM:619079
Niemann-Pick Disease Type C	Limb dystonia, Hepatomegaly, Axial dystonia, Dystonia, Ataxia, Bone-marrow foam cells, Fetal asci...	ORPHA:646
Mucopolysaccharidosis Type 2, Severe Form	Inguinal hernia, Camptodactyly of finger, Splenomegaly, Flexion contracture, Enlarged tonsils, Ch...	ORPHA:217085
Cerebrotendinous Xanthomatosis	Osteopenia, Resting tremor, Dystonia, Ataxia, Abnormal tibia morphology, Chronic diarrhea, Abnorm...	ORPHA:909
Acrodermatitis Enteropathica	Abnormal eyebrow morphology, Short stature, Anorexia, Poor appetite, Pustule, Abnormal eyelid mor...	ORPHA:37
Methemoglobinemia And Ambiguous Genitalia	Methemoglobinemia	OMIM:250790
Anaplastic Thyroid Carcinoma	Goiter, Nodular goiter, Weight loss, Lymphadenopathy	ORPHA:142
Porphyria, Acute Intermittent	Abdominal pain, Diarrhea, Paralytic ileus, Vomiting, Constipation, Hepatocellular carcinoma, Nausea	OMIM:176000
Inhalational Botulism	Nausea and vomiting, Diarrhea, Xerostomia, Constipation, Ptosis	ORPHA:254504
Mucopolysaccharidosis Type 2, Attenuated Form	Inguinal hernia, Camptodactyly of finger, Splenomegaly, Flexion contracture, Enlarged tonsils, Ch...	ORPHA:217093
Methionine Malabsorption Syndrome	Diarrhea	OMIM:250900
Congenital Tufting Enteropathy	Abdominal distention, Chronic diarrhea, Secretory diarrhea, Arthritis, Cholestatic liver disease,...	ORPHA:92050
Young-Onset Parkinson Disease	Gastroparesis, Tremor, Diarrhea, Bradykinesia, Constipation, Gait imbalance, Dystonia, Nausea	ORPHA:2828
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease	Hepatomegaly, Portal hypertension, Pancreatic cysts, Splenomegaly, Hematemesis, Periportal fibros...	OMIM:263200
Chronic Graft Versus Host Disease	Pancytopenia, Fasciitis, Anorexia, Abdominal pain, Urinary bladder inflammation, Diarrhea, Xerost...	ORPHA:99921
Pseudohypoaldosteronism, Type I, Autosomal Dominant	Diarrhea, Feeding difficulties, Pseudohypoaldosteronism, Hyperaldosteronism, Vomiting	OMIM:177735
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii	Osteopenia, Micromelia, Micrognathia, Abnormal finger morphology, Short palm, Large iliac wing, C...	ORPHA:2636
Familial Hypoaldosteronism	Nausea and vomiting, Diarrhea, Feeding difficulties, Growth delay, Adrenal insufficiency, Letharg...	ORPHA:427
Proteus Syndrome	Neoplasm of the thymus, Abnormal finger morphology, Clinodactyly of the 5th finger, Finger syndac...	ORPHA:744
Congenital Disorder Of Glycosylation, Type Im	Inflammatory abnormality of the skin, Sparse eyelashes, Sparse eyebrow, Diarrhea, Vomiting	OMIM:610768
Simpson-Golabi-Behmel Syndrome	Congenital hip dislocation, Congenital diaphragmatic hernia, Hepatoblastoma, Clinodactyly of the ...	ORPHA:373
Digeorge Syndrome	Acne, Short palpebral fissure, Short stature, Seborrheic dermatitis, Blepharophimosis, Splenomega...	OMIM:188400
Ethylmalonic Encephalopathy	Diarrhea, Ataxia	ORPHA:51188
Joubert Syndrome 21	Ataxia, Splenomegaly, Dysphagia, Chronic sinusitis, Ptosis	OMIM:615636
Botulism	Nausea and vomiting, Abdominal pain, Diarrhea, Xerostomia, Constipation, Dysphagia	ORPHA:1267
Alternating Hemiplegia Of Childhood	Ataxia, Anorexia, Oral-pharyngeal dysphagia, Abdominal distention, Gastrointestinal dysmotility, ...	ORPHA:2131
Radiculoneuropathy, Fatal Neonatal	Chronic diarrhea	OMIM:266250
Aspartylglucosaminuria	Hepatomegaly, Inguinal hernia, Pes planus, Abnormal morphology of ulna, Joint stiffness, Splenome...	ORPHA:93
Familial Glucocorticoid Deficiency	Decreased circulating cortisol level, Anorexia, Diarrhea, Episodic abdominal pain, Congenital hyp...	ORPHA:361
Wild Type Attr Amyloidosis	Hepatomegaly, Bowel incontinence, Gastrointestinal dysmotility, Chronic diarrhea, Intermittent di...	ORPHA:330001
Alg1-Cdg	Chronic diarrhea, Decreased liver function, Limitation of joint mobility	ORPHA:79327
Bile Acid Malabsorption, Primary, 2	Chronic diarrhea, Copper accumulation in liver, Periportal fibrosis, Prolonged neonatal jaundice,...	OMIM:619481
Glutaric Aciduria Iii	Diarrhea, Hyperthyroidism, Vomiting	OMIM:231690
Choreoacanthocytosis	Limb dystonia, Hepatomegaly, Resting tremor, Equinovarus deformity, Acanthocytosis, Abnormal eryt...	ORPHA:2388
Hyperoxaluria, Primary, Type I	Pathologic fracture, Increased bone mineral density	OMIM:259900
Cholera	Achlorhydria, Abdominal pain, Diarrhea, Abdominal cramps, Vomiting, Aspiration pneumonia, Lethargy	ORPHA:173
Acquired Methemoglobinemia	Methemoglobinemia	ORPHA:464453
Congenital Short Bowel Syndrome	Abnormal peristalsis, Projectile vomiting, Abdominal distention, Chronic diarrhea, Decreased inte...	OMIM:615237
Cystinosis, Nephropathic	Hepatomegaly, Failure to thrive in infancy, Oral-pharyngeal dysphagia, Splenomegaly, Metaphyseal ...	OMIM:219800
Fructose-1,6-Bisphosphatase Deficiency	Hepatomegaly, Reye syndrome-like episodes, Diarrhea, Vomiting, Hepatic steatosis	ORPHA:348
Occipital Horn Syndrome	Joint laxity, Short humerus, Pes planus, Pelvic bone exostoses, Coxa valga, Hiatus hernia, Capita...	OMIM:304150
Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin	Persistence of hemoglobin F	OMIM:617101
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome	Congenital hip dislocation, Ataxia, Supernumerary nipple, Wide anterior fontanel, Chronic diarrhe...	ORPHA:457279
Familial Osteodysplasia, Anderson Type	Recurrent fractures, Aplastic clavicle, Missing ribs, Bifid femur, Increased susceptibility to fr...	ORPHA:2769
Acute Intermittent Porphyria	Nausea and vomiting, Abdominal pain, Abdominal distention, Diarrhea, Ileus, Hyperhidrosis, Pseudo...	ORPHA:79276
Mitchell-Riley Syndrome	Absent gallbladder, Diarrhea, Biliary atresia, Cholestasis, Ascites, Acholic stools, Intrauterine...	OMIM:615710
Trichothiodystrophy 1, Photosensitive	Intestinal obstruction, Short stature, Chronic diarrhea, Keratoconjunctivitis sicca, Erythroderma...	OMIM:601675
Zollinger-Ellison Syndrome	Gastrointestinal hemorrhage, Intestinal obstruction, Hyperparathyroidism, Pituitary null cell ade...	ORPHA:913
Hypertrophic Osteoarthropathy, Primary, Autosomal Dominant	Clubbing of fingers, Secretory diarrhea, Periosteal thickening of long tubular bones	OMIM:167100
Juvenile Polyposis Syndrome	Neoplasm of the pancreas, Brain abscess, Gastrointestinal hemorrhage, Failure to thrive, Abdomina...	ORPHA:2929
Multiple Endocrine Neoplasia, Type Iib	Joint laxity, Failure to thrive in infancy, Diarrhea, Constipation, Pheochromocytoma, Parathyroid...	OMIM:162300
Congenital Enterocyte Heparan Sulfate Deficiency	Hematochezia, Abdominal distention, Diarrhea	ORPHA:103910
Bile Acid Malabsorption, Primary, 1	Growth delay, Chronic diarrhea, Steatorrhea	OMIM:613291
Radiation Proctitis	Intestinal obstruction, Diarrhea, Tenesmus, Hematochezia, Rectal abscess, Arteritis	ORPHA:70475
Mycosis Fungoides	Lymphadenopathy	OMIM:254400
Nephroblastoma	Neoplasm of the liver, Weight loss, Lymphadenopathy	ORPHA:654
Helsmoortel-Van Der Aa Syndrome	Decreased response to growth hormone stimulation test, Pineal cyst, Gastroesophageal reflux, Shor...	OMIM:615873
Neuropathy, Hereditary Sensory And Autonomic, Type Iii	Feeding difficulties in infancy, Episodic hyperhidrosis, Diarrhea, Growth delay, Gastroesophageal...	OMIM:223900
Blue Diaper Syndrome	Decreased circulating T4 concentration, Diarrhea	ORPHA:94086
Igg4-Related Kidney Disease	Eosinophilia, Abdominal pain, Retroperitoneal fibrosis, Lymphadenitis, Abnormal mesentery morphol...	ORPHA:449395
Shwachman-Diamond Syndrome 1	Acute myeloid leukemia, Pancytopenia, Persistence of hemoglobin F, Anemia, Neutropenia, Thrombocy...	OMIM:260400
Thyroid Lymphoma	Goiter, Lymphadenopathy	ORPHA:97285
Encephalopathy, Ethylmalonic	Chronic diarrhea, Ataxia, Feeding difficulties	OMIM:602473
Squamous Cell Carcinoma Of The Anal Canal	Neoplasm of the liver, Abdominal pain, Intestinal bleeding, Lymphadenopathy	ORPHA:424019
Erythroderma Desquamativum	Diarrhea, Seborrheic dermatitis	ORPHA:314
Vascular Hyalinosis	Hematochezia, Diarrhea	OMIM:277175
Diamond-Blackfan Anemia	Acute myeloid leukemia, Pure red cell aplasia, Erythroid hypoplasia, Reticulocytopenia, Persisten...	ORPHA:124
Multiple Endocrine Neoplasia Type 2	Reduced subcutaneous adipose tissue, Joint laxity, Thyroid C cell hyperplasia, Abdominal distenti...	ORPHA:653
Reactive Arthritis	Pericarditis, Osteomyelitis, Abdominal pain, Pustule, Diarrhea, Enthesitis, Arthritis, Inflammati...	ORPHA:29207
Mednik Syndrome	Diarrhea, Cholestasis, Upslanted palpebral fissure, Growth delay, Hepatic fibrosis, Cirrhosis	OMIM:609313
Glucose/Galactose Malabsorption	Hyperactive bowel sounds, Abdominal distention, Chronic diarrhea	OMIM:606824
Thymoma	Leukemia, Aplastic anemia, Pure red cell aplasia, Imbalanced hemoglobin synthesis	ORPHA:99867
Multiple Endocrine Neoplasia Type 4	Hyperparathyroidism, Pituitary null cell adenoma, Elevated circulating growth hormone concentrati...	ORPHA:276152
Enterokinase Deficiency	Diarrhea	OMIM:226200
Primary Hyperoxaluria	Generalized osteosclerosis, Failure to thrive, Recurrent fractures	ORPHA:416
Simpson-Golabi-Behmel Syndrome, Type 1	Congenital diaphragmatic hernia, Narrow greater sciatic notch, Short palm, Hepatoblastoma, Hepato...	OMIM:312870
Complement Component 5 Deficiency	Intractable diarrhea, Generalized seborrheic dermatitis	OMIM:609536
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin	Persistence of hemoglobin F	OMIM:619769
Glucose-Galactose Malabsorption	Abdominal distention, Diarrhea, Hyperactive bowel sounds, Malnutrition, Vomiting	ORPHA:35710
Short-Rib Thoracic Dysplasia 15 With Polydactyly	Hepatomegaly, Postaxial polydactyly, Splenomegaly, Postaxial hand polydactyly, Aplasia of the epi...	OMIM:617088
Cholestasis, Progressive Familial Intrahepatic, 6	Intrahepatic cholestasis, Periportal fibrosis, Chronic diarrhea	OMIM:619484
Oligoarticular Juvenile Idiopathic Arthritis	Knee osteoarthritis, Oligoarthritis, Uveitis, Increased circulating interferon-gamma concentratio...	ORPHA:85410
X-Linked Intellectual Disability-Limb Spasticity-Retinal Dystrophy-Diabetes Insipidus Syndrome	HbH hemoglobin	ORPHA:423479
Lead Poisoning	Imbalanced hemoglobin synthesis, Anemia, Abnormal T cell morphology	ORPHA:330015
Multiple Endocrine Neoplasia, Type I	Pancreatic islet cell adenoma, Elevated circulating growth hormone concentration, Diarrhea, Insul...	OMIM:131100
Serotonin Syndrome	Diarrhea, Hepatic failure, Nausea, Hyperhidrosis	ORPHA:43116
Viss Syndrome	Chronic gastritis, Micrognathia, Generalized joint laxity, Gastroesophageal reflux, Long toe, Mic...	OMIM:619472
Bartter Syndrome, Type 1, Antenatal	Osteopenia, Hyperparathyroidism, Small for gestational age, Diarrhea, Constipation, Vomiting, Fai...	OMIM:601678
Biliary, Renal, Neurologic, And Skeletal Syndrome	Osteopenia, Anterior pituitary hypoplasia, Knee dislocation, Hepatic fibrosis, Gastroesophageal r...	OMIM:619534
Klatskin Tumor	Hepatomegaly, Cholangiocarcinoma, Jaundice, Extrahepatic cholestasis, Lymphadenopathy, Weight loss	ORPHA:99978
Femoral-Facial Syndrome	Short third metatarsal, Short humerus, Short fourth metatarsal, Toe syndactyly, Short fifth metat...	OMIM:134780
Proprotein Convertase 1/3 Deficiency	Diarrhea, Decreased circulating cortisol level	OMIM:600955
Steinert Myotonic Dystrophy	Intestinal pseudo-obstruction, Decreased response to growth hormone stimulation test, Abnormality...	ORPHA:273
Lipodystrophy, Familial Partial, Type 7	Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Decreased adip...	OMIM:606721
Zttk Syndrome	Absent gallbladder, Craniosynostosis, Feeding difficulties in infancy, Flexion contracture, Small...	OMIM:617140
Tropical Endomyocardial Fibrosis	Hepatomegaly, Increased circulating interleukin 6 concentration, Eosinophilia, Cardiomegaly, Sple...	ORPHA:75565
Neonatal Inflammatory Skin And Bowel Disease	Recurrent bacterial skin infections, Chapped lip, Psoriasiform dermatitis, Pustule, Bloody diarrh...	ORPHA:294023
Epidermolysis Bullosa, Junctional 5B, With Pyloric Atresia	Intractable diarrhea, Axillary pterygium, Ectropion	OMIM:226730
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome	Abnormal hemoglobin, Anemia	ORPHA:847
Granulomatous Disease, Chronic, Autosomal Recessive, 3	Abdominal pain, Diarrhea, Colitis, Recurrent aphthous stomatitis, Recurrent sinusitis, Perioral e...	OMIM:613960
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked	Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia	OMIM:301040
Scorpion Envenomation	Acute pancreatitis, Ataxia, Abdominal pain, Myocarditis, Diarrhea, Hyperhidrosis, Vomiting	ORPHA:466677
Pulmonary Capillary Hemangiomatosis	Mediastinal lymphadenopathy, Clubbing of fingers, Pedal edema, Lymphadenopathy	ORPHA:199241
Gallbladder Neuroendocrine Tumor	Chronic noninfectious lymphadenopathy, Anorexia, Biliary tract neoplasm, Abdominal distention, Ex...	ORPHA:100086
Melkersson-Rosenthal Syndrome	Lymphadenopathy	ORPHA:2483
Familial Hyperthyroidism Due To Mutations In Tsh Receptor	Small for gestational age, Diarrhea, Hand tremor, Weight loss, Thyroid hyperplasia, Goiter	ORPHA:424
Diarrhea 10, Protein-Losing Enteropathy Type	Secretory diarrhea, Feeding difficulties, Hematochezia, Decreased circulating antibody level, Asc...	OMIM:618183
Bartter Syndrome, Type 2, Antenatal	Osteopenia, Small for gestational age, Diarrhea, Constipation, Vomiting, Failure to thrive, Chond...	OMIM:241200
Diamond-Blackfan Anemia 1	Macrocytic anemia, Congenital hypoplastic anemia, Reticulocytopenia, Persistence of hemoglobin F,...	OMIM:105650
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome	Absent gallbladder, Arachnodactyly, Gastroparesis, Sagittal craniosynostosis, Absent thumb, Feedi...	ORPHA:500150
Familial Gestational Hyperthyroidism	Diarrhea, Hand tremor, Weight loss, Thyroid hyperplasia, Goiter	ORPHA:99819
Hereditary Angioedema Type 1	Abdominal pain, Diarrhea, Vomiting, Dysphagia, Nausea	ORPHA:100050
Proximal Renal Tubular Acidosis	Diarrhea, Enamel hypomineralization, Reduced bone mineral density, Vomiting, Failure to thrive	ORPHA:47159
Deafness-Small Bowel Diverticulosis-Neuropathy Syndrome	Short palm, Cachexia, Chronic diarrhea, Steatorrhea, Brachydactyly	ORPHA:3217
Angioedema, Hereditary, 1	Diarrhea, Vomiting, Abdominal pain	OMIM:106100
Nmda Receptor Encephalitis	Ovarian teratoma, Dystonia, Oculogyric crisis, Neoplasm of the thymus, Diarrhea, Opisthotonus, Ch...	ORPHA:217253
Microvillus Inclusion Disease	Abdominal distention, Diarrhea	ORPHA:2290
Cocaine Intoxication	Glomerulonephritis, Abdominal pain, Bloody diarrhea, Hyperhidrosis, Tubulointerstitial nephritis,...	ORPHA:90068
Diarrhea 1, Secretory Chloride, Congenital	Growth delay, Abdominal distention, Hyperaldosteronism, Secretory diarrhea	OMIM:214700
Unilateral Polymicrogyria	Pseudobulbar paralysis, Abnormal posturing, Nasogastric tube feeding	ORPHA:268943
Lymphangioleiomyomatosis	Gastrointestinal hemorrhage, Abdominal pain, Abnormality of the lymphatic system, Lymphadenopathy...	ORPHA:538
Ectodermal Dysplasia-Skin Fragility Syndrome	Chapped lip, Recurrent skin infections, Short stature, Recurrent pneumonia, Chronic diarrhea, Che...	ORPHA:158668
Omphalocele Syndrome, Shprintzen-Goldberg Type	Telecanthus, Feeding difficulties in infancy, Abnormal eyelash morphology, Chronic diarrhea, Gast...	ORPHA:3164
Diarrhea 3, Secretory Sodium, Congenital, With Or Without Other Congenital Anomalies	Abdominal distention, Secretory diarrhea	OMIM:270420
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome	Exocrine pancreatic insufficiency, Biliary atresia, Feeding difficulties, Congenital hypothyroidi...	ORPHA:2255
Adenocarcinoma Of The Anal Canal	Neoplasm of the liver, Abdominal pain, Intestinal bleeding, Lymphadenopathy	ORPHA:424016
Meconium Ileus	Chronic diarrhea, Meconium ileus	OMIM:614665

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

Phenotype	Allele	Zygosity	Sex	Life Stage
Liver - lipid deposition	Ptpn2^{tm1a(EUCOMM)Wtsi}	HET		Early adult

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Ptpn2.

There are 11 publications which use IMPC produced mice or data.

Title	Journal	IMPC Allele	PubMed ID
PTPN2 Is a Critical Regulator of Ileal Paneth Cell Viability and Function in Mice.	Cellular and molecular gastroenterology and hepatology (April 2023)	Ptpn22^{tm1a(EUCOMM)Wtsi}	PMC10213106
Driving axon regeneration by orchestrating neuronal and non-neuronal innate immune responses via the IFNγ-cGAS-STING axis.	Neuron (November 2022)	Ptpn2^{tm1a(EUCOMM)Wtsi}	PMC9851977
Macrophages Compensate for Loss of Protein Tyrosine Phosphatase N₂ in Dendritic Cells to Protect from Elevated Colitis.	International journal of molecular sciences (June 2021)	Ptpn2^{tm1a(EUCOMM)Wtsi}	PMC8269284
Protein tyrosine phosphatase nonreceptor type 2 controls colorectal cancer development.	The Journal of clinical investigation (January 2021)	Ptpn2^{tm1c(EUCOMM)Wtsi}	33001862
Identification of a Novel Susceptibility Marker for SARS-CoV-2 Infection in Human Subjects and Risk Mitigation with a Clinically Approved JAK Inhibitor in Human/Mouse Cells.	bioRxiv : the preprint server for biology (December 2020)	Ptpn2^{tm1c(EUCOMM)Wtsi}	PMC7743066
Protein Tyrosine Phosphatase Non-Receptor Type 2 Function in Dendritic Cells Is Crucial to Maintain Tissue Tolerance.	Frontiers in immunology (August 2020)	Ptpn2^{tm1a(EUCOMM)Wtsi}	PMC7462014
Large-scale neuroanatomical study uncovers 198 gene associations in mouse brain morphogenesis.	Nature communications (August 2019)	Ptpn2^{tm1a(EUCOMM)Wtsi}	PMC6671969
Mouse screen reveals multiple new genes underlying mouse and human hearing loss.	PLoS biology (April 2019)	Ptpn2^{tm1a(EUCOMM)Wtsi}	PMC6459510
PTPN2 Regulates Inflammasome Activation and Controls Onset of Intestinal Inflammation and Colon Cancer.	Cell reports (February 2018)	Ptpn2^{tm1a(EUCOMM)Wtsi}	29444435
Targeted disruption of TC-PTP in the proliferative compartment augments STAT3 and AKT signaling and skin tumor development.	Scientific reports (March 2017)	Ptpn2^{tm1c(EUCOMM)Wtsi} Ptpn2^{tm1a(EUCOMM)Wtsi}	PMC5359614
PTPN2 controls differentiation of CD4⁺ T cells and limits intestinal inflammation and intestinal dysbiosis.	Mucosal immunology (December 2014)	Ptpn2^{tm1a(EUCOMM)Wtsi}	25492475

Order Mouse and ES Cells

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

MGI Allele	Allele Type	Produced
Ptpn2^{tm1e(EUCOMM)Wtsi}	Targeted, non-conditional allele	ES Cells
Ptpn2^{tm1a(EUCOMM)Wtsi}	KO first allele (reporter-tagged insertion with conditional potential)	Mice, Targeting vectors, ES Cells

Sequence

Guides

Sequence	Guide sequence	pam	chr	start	stop	strand	Genome build	gRNA Concentration	Truncated Guide	Reversed	Sanger service	Guide format	Guide source

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

The IMPC Newsletter

Get highlights of the most important data releases, news and events, delivered straight to your email inbox

Subscribe to newsletter

My Genes

About the IMPC

Data

Human Diseases

Publications

News

Blog

Help

IMPC Cloud

Contact us

Gene: Ptpn2 MGI:97806

Gene Summary

IMPC Data Collections

IMPC Phenotype Summary

Phenotypes

lacZ Expression

Associated Images

Histopathology

Legacy Phenotype Associated Images

Human diseases caused by Ptpn2 mutations

Histopathology

IMPC related publications

Order Mouse and ES Cells

The IMPC Newsletter

Access Data Release 20.1 Data