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Gene: Nlrp3 MGI:2653833

Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

Name:

NLR family, pyrin domain containing 3

Synonyms:

Cias1, NALP3, Pypaf1, cryopyrin, Mmig1

Order Alleles

IMPC Data Collections

No Body Weight Data
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.

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by Nlrp3 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 Nlrp3 (8 diseases)
Human diseases predicted to be associated with Nlrp3 (1446 diseases)

The table below shows human diseases associated to Nlrp3 by orthology or direct annotation.

Disease	Matching phenotypes	Source
Cinca Syndrome	Joint dislocation, Abnormality of thrombocytes, Elevated circulating C-reactive protein concentra...	ORPHA:1451
Cinca Syndrome	Skin rash, Eosinophilia, Elevated circulating C-reactive protein concentration, Leukocytosis, Pat...	OMIM:607115
Familial Cold Autoinflammatory Syndrome 1	Skin rash, Elevated circulating C-reactive protein concentration, Leukocytosis, Uveitis, Arthriti...	OMIM:120100
Deafness, Autosomal Dominant 34, With Or Without Inflammation	Arthritis, Conjunctivitis, Lymphadenopathy	OMIM:617772
Muckle-Wells Syndrome	Episcleritis, Hepatomegaly, Skin rash, Short stature, Splenomegaly, Uveitis, Arthritis, Conjuncti...	ORPHA:575
Muckle-Wells Syndrome	Maculopapular exanthema, Short stature, Elevated circulating C-reactive protein concentration, Le...	OMIM:191900
Familial Cold Urticaria	Arthritis, Conjunctivitis	ORPHA:47045
Keratoendotheliitis Fugax Hereditaria	Keratitis	OMIM:148200

The table below shows human diseases predicted to be associated to Nlrp3 by phenotypic similarity.

Disease	Matching phenotypes	Source
Complement Component 4, Partial Deficiency Of	Systemic lupus erythematosus	OMIM:120790
Autoimmune Disease	Autoimmune antibody positivity, Autoimmunity	OMIM:109100
Pemphigus Vulgaris, Familial	Autoimmune antibody positivity, Autoimmunity	OMIM:169610
Hashimoto Thyroiditis	Autoimmune antibody positivity, Hashimoto thyroiditis	OMIM:140300
Tn Polyagglutination Syndrome	Autoimmunity	OMIM:300622
Albers-Schönberg Osteopetrosis	Abnormal leukocyte morphology, Joint dislocation, Osteomyelitis, Short stature, Recurrent fractur...	ORPHA:53
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis	Psoriasiform dermatitis, Acne, Osteomyelitis, Skin rash, Elevated circulating C-reactive protein ...	ORPHA:324964
Immunodeficiency 27A	Increased inflammatory response, Hypoplasia of the femoral head, Pneumonia, Splenomegaly, Leukocy...	OMIM:209950
Complement Component 8 Deficiency, Type I	Systemic lupus erythematosus	OMIM:613790
Intermediate Osteopetrosis	Osteomyelitis, Recurrent fractures, Cortical sclerosis, Generalized osteosclerosis, Thrombocytope...	ORPHA:210110
Mu-Heavy Chain Disease	Abnormal B cell count, Splenomegaly, Osteoporosis, Osteolysis, Weight loss, Increased circulating...	ORPHA:100024
Immunodeficiency 104	Hepatomegaly, Pneumonia, Eczema, Splenomegaly, Chronic mucocutaneous candidiasis, Lymphadenopathy...	OMIM:608971
Sickle Cell Anemia	Hemolytic anemia, Reticulocytosis, Osteomyelitis, Microcytic anemia, Abnormality of the spleen, L...	ORPHA:232
Hypertriglyceridemia, Transient Infantile	Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Hepatic fibrosis...	OMIM:614480
Systemic Lupus Erythematosus 16	Antinuclear antibody positivity, Perinuclear antineutrophil antibody positivity, Anti-dsDNA antib...	OMIM:614420
Osteochondrosis Of The Metatarsal Bone	Flattened metatarsal heads, Abnormality of the fifth metatarsal bone, Sclerosis of foot bone, Abn...	ORPHA:564003
Majeed Syndrome	Inflammatory abnormality of the skin, Osteomyelitis, Acne, Increased bone mineral density, Cachex...	ORPHA:77297
Osteopetrosis, Autosomal Recessive 1	Increased bone mineral density, Osteomyelitis, Femur fracture, Pancytopenia, Craniosynostosis, Th...	OMIM:259700
Immunodeficiency 64 With Lymphoproliferation	Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of CD4-pos...	OMIM:618534
Immunodeficiency 52	Decreased proportion of CD4-positive T cells, Failure to thrive, Autoimmune thrombocytopenia, Spl...	OMIM:617514
Rosaï-Dorfman Disease	Osteolysis, Dysgammaglobulinemia, Anemia	ORPHA:158014
Immunodeficiency 69	Pancytopenia, Skin rash, Splenomegaly, Increased circulating ferritin concentration, Leukocytosis...	OMIM:618963
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne	Pancytopenia, Acne, Thrombocytosis, Elevated circulating C-reactive protein concentration, Microc...	OMIM:604416
Medial Condensing Osteitis Of The Clavicle	Limited shoulder movement, Elevated circulating C-reactive protein concentration, Patchy reductio...	ORPHA:57196
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency	Failure to thrive, Eosinophilia, Increased circulating IgA level, Autoimmune thrombocytopenia, De...	ORPHA:169154
Caspase 8 Deficiency	Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc...	OMIM:607271
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia	Macrocytic anemia, Pancytopenia, Thrombocytosis, Eczema, Anemia of inadequate production, Megalob...	OMIM:617780
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis	Osteopenia, Osteomyelitis, Skin rash, Failure to thrive in infancy, Elevated circulating C-reacti...	OMIM:612852
Immunodeficiency 48	Hepatomegaly, Failure to thrive, Pneumonia, Absence of CD8-positive T cells, Splenomegaly, Eczema...	OMIM:269840
Ollier Disease	Micromelia, Joint stiffness, Abnormal cartilage morphology, Bone pain, Osteolysis, Multiple encho...	ORPHA:296
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta	Chronic oral candidiasis, Lymphopenia, Pneumonia, Eosinophilia, Recurrent pneumonia, Hepatitis, H...	ORPHA:169160
Inflammatory Bowel Disease 29	Ulcerative colitis, Crohn's disease	OMIM:618077
X-Linked Agammaglobulinemia	Recurrent cutaneous abscess formation, Sinusitis, Osteomyelitis, Skin rash, Short stature, Thromb...	ORPHA:47
Epiphyseal Dysplasia, Multiple, 3	Epiphyseal dysplasia, Short metacarpal, Elevated circulating creatine kinase concentration, Knee ...	OMIM:600969
Rheumatoid Factor-Positive Polyarticular Juvenile Idiopathic Arthritis	Osteopenia, Symmetric polyarthritis, Elevated circulating C-reactive protein concentration, Abnor...	ORPHA:85435
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency	Inflammatory abnormality of the skin, Sinusitis, Failure to thrive, Autoimmunity, Absence of lymp...	ORPHA:277
Osteochondrosis Of The Tarsal Bone	Foot pain, Tarsal sclerosis, Arthritis, Tarsal stippling, Ankle pain, Chondritis, Juvenile asepti...	ORPHA:563991
Hepatic Venoocclusive Disease With Immunodeficiency	Abnormality of the liver, Decreased circulating IgG level, Absence of lymph node germinal center	OMIM:235550
Shwachman-Diamond Syndrome	Osteopenia, Normocytic anemia, Sinusitis, Aplastic anemia, Transient neutropenia, Metaphyseal cho...	ORPHA:811
Immunodeficiency 14B, Autosomal Recessive	Neutrophilia, Reduced natural killer cell activity, Leukocytosis, Recurrent pneumonia, Decreased ...	OMIM:619281
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
Immunodeficiency 15B	Decreased circulating antibody level, Agammaglobulinemia, Monocytosis, Chronic oral candidiasis, ...	OMIM:615592
Osteopetrosis, Autosomal Recessive 2	Pancytopenia, Osteomyelitis, Extramedullary hematopoiesis, Recurrent fractures, Mandibular osteom...	OMIM:259710
Gorham-Stout Disease	Osteopenia, Abnormal pelvis bone morphology, Osteomyelitis, Osteolysis involving bones of the upp...	ORPHA:73
Immunodeficiency 105	Impaired lymphocyte transformation with phytohemagglutinin, Lymphopenia, Pancytopenia, Skin rash,...	OMIM:619924
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation	Herpes simplex encephalitis, Increased circulating IgE level, Bronchiectasis, Hepatosplenomegaly,...	OMIM:618982
Pulmonary Nodular Lymphoid Hyperplasia	Mediastinal lymphadenopathy, Autoimmune antibody positivity, Plasmacytosis, Follicular hyperplasia	ORPHA:60026
Mueller-Weiss Syndrome	Limitation of movement at ankles, Sclerosis of foot bone, Tibiofibular diastasis, Joint stiffness...	ORPHA:566943
Autoimmune Lymphoproliferative Syndrome, Type Iii	Increased proportion autoreactive unresponsive CD21-/low B cells, Generalized lymphadenopathy, In...	OMIM:615559
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity	Hepatomegaly, Autoimmune hemolytic anemia, Failure to thrive, Autoimmunity, Lymphocytic interstit...	OMIM:618495
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant	Splenomegaly, Bronchiectasis, Lymphadenopathy, Decreased proportion of class-switched memory B ce...	OMIM:615513
Familial Hemophagocytic Lymphohistiocytosis	Increased circulating interleukin 6 concentration, Increased circulating interferon-gamma concent...	ORPHA:540
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome	Hemolytic anemia, Autoimmune hemolytic anemia, Autoimmunity, Autoimmune thrombocytopenia, Splenom...	ORPHA:444463
Hereditary Sensory And Autonomic Neuropathy Type 2	Abnormality of the knee, Tapered finger, Osteolysis, Foot acroosteolysis, Reduced bone mineral de...	ORPHA:970
Autosomal Agammaglobulinemia	Sinusitis, Osteomyelitis, Skin rash, Recurrent skin infections, Bronchiectasis, Hepatitis, Agamma...	ORPHA:33110
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency	Decreased proportion of naive T cells, Recurrent cutaneous fungal infections, Increased circulati...	ORPHA:276
Pgm3-Cdg	Abnormal CD4:CD8 ratio, Increased circulating IgG level, Leukopenia, T lymphocytopenia, Neutropen...	ORPHA:443811
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity	Hemolytic anemia, Autoimmune hemolytic anemia, Psoriasiform dermatitis, Decreased proportion of C...	OMIM:606367
Neutropenia, Severe Congenital, 1, Autosomal Dominant	Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Monocytosis, Increased circul...	OMIM:202700
Immunodeficiency 85 And Autoimmunity	Lymphopenia, Failure to thrive in infancy, Eczema, Oligoarthritis, Growth delay, Decreased circul...	OMIM:619510
Immunodeficiency 25	Autoimmune hemolytic anemia, Eosinophilia, Increased circulating IgA level, Increased circulating...	OMIM:610163
Ras-Associated Autoimmune Leukoproliferative Disorder	Hemolytic anemia, Pancytopenia, Autoimmune thrombocytopenia, Splenomegaly, Monocytosis, Increased...	OMIM:614470
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections	Osteomyelitis, Recurrent skin infections, Eczema, Eosinophilia, Recurrent pneumonia, Increased ci...	OMIM:618282
Autoimmune Lymphoproliferative Syndrome, Type Iia	Rheumatoid factor positive, Increased circulating IgG level, Iron deficiency anemia, Platelet ant...	OMIM:603909
Sézary Syndrome	Hepatomegaly, Abnormal immunoglobulin level, Pruritus, Splenomegaly, Lymphadenopathy, Erythroderm...	ORPHA:3162
Diarrhea 13	Elevated hepatic transaminase, Secretory diarrhea, Vomiting, Hypoalbuminemia, Failure to thrive, ...	OMIM:620357
Felty Syndrome	Episcleritis, Pericarditis, Sinusitis, Thrombocytopenia, Splenomegaly, Recurrent pneumonia, Limit...	ORPHA:47612
Activated Pi3K-Delta Syndrome	Hepatomegaly, Pneumonia, Autoimmunity, Splenomegaly, Recurrent tonsillitis, Bronchiectasis, Decre...	ORPHA:397596
Pachydermoperiostosis	Osteomyelitis, Acne, Seborrheic dermatitis, Splenomegaly, Limitation of joint mobility, Small han...	ORPHA:2796
Autoimmune Lymphoproliferative Syndrome	Rheumatoid factor positive, Increased circulating IgG level, Iron deficiency anemia, Platelet ant...	OMIM:601859
Omenn Syndrome	Hepatomegaly, Failure to thrive, Autoimmunity, Pneumonia, Eosinophilia, Pruritus, Splenomegaly, L...	ORPHA:39041
Hereditary Progressive Mucinous Histiocytosis	Pruritus, Mucinous histiocytosis, Lymphadenopathy	ORPHA:158025
Gaucher Disease Type 1	Osteopenia, Increased bone mineral density, Pancytopenia, Hypersplenism, Thrombocytopenia, Osteoa...	ORPHA:77259
Immunodeficiency 78 With Autoimmunity And Developmental Delay	Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Fluctuating splenomegaly, Bronchiectasi...	OMIM:619220
Complement Component C1S Deficiency	Hashimoto thyroiditis, Systemic lupus erythematosus	OMIM:613783
Ghosal Hematodiaphyseal Dysplasia	Craniofacial hyperostosis, Bowing of the long bones, Splenomegaly, Abnormal tibia morphology, Abn...	ORPHA:1802
Kerion Celsi	Recurrent cutaneous abscess formation, Inflammatory abnormality of the skin, Recurrent skin infec...	ORPHA:499
Neuropathy, Hereditary Sensory, Type If	Hallux valgus, Osteomyelitis, Neuropathic arthropathy, Osteolytic defects of the phalanges of the...	OMIM:615632
Eiken Syndrome	Epiphyseal dysplasia, Abnormal trabecular bone morphology, Abnormal acetabulum morphology, Thin b...	ORPHA:79106
Celiac Disease, Susceptibility To, 1	Macrocytic anemia, Short stature, Eczema, Postnatal growth retardation, Osteoporosis, Thyroiditis...	OMIM:212750
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked	Glomerulonephritis, Eczema, Autoimmune thrombocytopenia, Eosinophilia, Thrombocytopenia, Increase...	OMIM:304790
Gnathodiaphyseal Dysplasia	Osteopenia, Bowing of the long bones, Osteomyelitis, Diaphyseal cortical sclerosis, Increased sus...	OMIM:166260
C1Q Deficiency 1	Autoimmunity, Systemic lupus erythematosus	OMIM:613652
Majeed Syndrome	Inflammatory abnormality of the skin, Osteomyelitis, Skin rash, Anemia of inadequate production, ...	OMIM:609628
Aspergillosis	Sinusitis, Osteomyelitis, Pneumonia, Eosinophilia, Keratitis, Increased circulating IgE level, Br...	ORPHA:1163
Immunodeficiency 91 And Hyperinflammation	Membranoproliferative glomerulonephritis, Maculopapular exanthema, Neutrophilia, Elevated circula...	OMIM:619644
Autosomal Dominant Severe Congenital Neutropenia	Osteopenia, Acute myeloid leukemia, Recurrent skin infections, Pneumonia, Aplastic anemia, Eosino...	ORPHA:486
Severe Combined Immunodeficiency, X-Linked	Impaired lymphocyte transformation with phytohemagglutinin, Hepatomegaly, Failure to thrive, Skin...	OMIM:300400
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias	Absent specific antibody response, Decreased proportion of CD4+CD25+ regulatory T cells, Follicul...	OMIM:619846
Immunodeficiency 103, Susceptibility To Fungal Infections	Abnormal B cell count, Abnormal proportion of CD8-positive T cells, Increased circulating IgE lev...	OMIM:212050
Autosomal Dominant Hyper-Ige Syndrome	Osteopenia, Osteomyelitis, Skin rash, Eczema, Craniosynostosis, Recurrent fractures, Eosinophilia...	ORPHA:2314
Fetal Cytomegalovirus Syndrome	Splenomegaly, Hepatomegaly, Anemia	ORPHA:294
Hypocalcemic Vitamin D-Resistant Rickets	Joint dislocation, Short stature, Osteomalacia, Recurrent fractures, Bone cyst, Genu varum, Osteo...	ORPHA:93160
Aggressive Systemic Mastocytosis	Pancytopenia, Maculopapular exanthema, Hypersplenism, Thrombocytopenia, Leukocytosis, Osteoporosi...	ORPHA:98850
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation	Hepatomegaly, Failure to thrive, Generalized lymphadenopathy, Aplasia of the thymus, Pneumonia, E...	OMIM:602450
Schnitzler Syndrome	Hepatomegaly, Skin rash, Pruritus, Splenomegaly, Leukocytosis, Lymphadenopathy, Increased circula...	ORPHA:37748
Combined Oxidative Phosphorylation Deficiency 53	Osteomyelitis, Short stature, Elevated circulating C-reactive protein concentration, Hypochromic ...	OMIM:619423
Immunodeficiency, Common Variable, 1	Hepatomegaly, Pneumonia, Impaired T cell function, Splenomegaly, Recurrent pneumonia, Bronchiecta...	OMIM:607594
Familial Expansile Osteolysis	Bowing of the long bones, Bone pain, Osteolysis, Pathologic fracture, Thin bony cortex	OMIM:174810
Immunodeficiency, Common Variable, 2	Hepatomegaly, Impaired T cell function, Autoimmunity, Follicular hyperplasia, Splenomegaly, Recur...	OMIM:240500
Immunodeficiency 92	Osteomyelitis, Pneumonia, Cholangitis, Leukocytosis, Decreased proportion of class-switched memor...	OMIM:619652
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia	Short stature, Elevated circulating creatine kinase concentration, Osteolysis, Increased suscepti...	ORPHA:52430
Lipodystrophy, Congenital Generalized, Type 3	Reduced subcutaneous adipose tissue, Hepatomegaly, Hypertriglyceridemia, Lipodystrophy, Splenomeg...	OMIM:612526
Persistent Polyclonal B-Cell Lymphocytosis	Splenomegaly, Decreased circulating total IgM, Lymphocytosis, Hepatomegaly	OMIM:606445
Sting-Associated Vasculopathy, Infantile-Onset	Lymphopenia, Myositis, Failure to thrive, Skin rash, Elevated circulating C-reactive protein conc...	OMIM:615934
Glycogen Storage Disease Vi	Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Failure to thrive in infancy, ...	OMIM:232700
Complement Component 2 Deficiency	Systemic lupus erythematosus	OMIM:217000
Lipodystrophy, Partial, Acquired, Susceptibility To	Membranoproliferative glomerulonephritis, Progressive loss of facial adipose tissue, Loss of trun...	OMIM:608709
Immunodeficiency 51	Recurrent skin infections, Eczema, Pneumonia, Pustule, Chronic mucocutaneous candidiasis, Recurre...	OMIM:613953
Proteasome-Associated Autoinflammatory Syndrome 2	Increased CD4:CD8 ratio, Skin rash, Neutrophilic infiltration of the skin, Increased circulating ...	OMIM:618048
Juvenile Hyaline Fibromatosis	Abnormal diaphysis morphology, Progressive flexion contractures, Osteolysis, Joint stiffness	ORPHA:2028
Tenosynovial Giant Cell Tumor	Abnormality of the knee, Joint stiffness, Polyarticular arthropathy, Limitation of joint mobility...	ORPHA:66627
Hyaline Fibromatosis Syndrome	Osteopenia, Progressive flexion contractures, Flexion contracture, Osteoporosis, Osteolysis, Fail...	OMIM:228600
Bacterial Toxic-Shock Syndrome	Fasciitis, Sinusitis, Myositis, Elevated circulating creatine kinase concentration, Increased cir...	ORPHA:36234
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Myositis, Abnormal blood ion concentration, Tubulointerstitial nephritis, Iron deficiency anemia,...	ORPHA:37042
Vitamin D Hydroxylation-Deficient Rickets, Type 1B	Bulging epiphyses, Thin bony cortex, Enlargement of the ankles, Recurrent fractures, Bowing of th...	OMIM:600081
Brucellosis	Liver abscess, Elevated circulating C-reactive protein concentration, Knee osteoarthritis, Increa...	ORPHA:1304
Adult Idiopathic Neutropenia	Abnormal neutrophil count, Increased circulating IgM level, Monocytosis, Recurrent aphthous stoma...	ORPHA:2688
Lymphoproliferative Syndrome 3	Hepatosplenomegaly, Lymphadenopathy, Decreased circulating antibody level, Partial absence of spe...	OMIM:618261
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome	Splenomegaly, Hepatomegaly	ORPHA:2274
Poems Syndrome	Sclerosis of hand bone, Sclerosis of foot bone, Metaphyseal sclerosis, Weight loss, Clubbing of f...	ORPHA:2905
Mycetoma	Recurrent bacterial skin infections, Abnormality of the knee, Osteomyelitis, Bone cyst, Osteoporo...	ORPHA:2583
Morbid Obesity And Spermatogenic Failure	Decreased HDL cholesterol concentration, Hypertriglyceridemia, Obesity, Increased LDL cholesterol...	OMIM:615703
Combined Oxidative Phosphorylation Deficiency 16	Microvesicular hepatic steatosis, Elevated circulating alanine aminotransferase concentration, El...	OMIM:615395
Immunodeficiency 21	Osteomyelitis, Aplastic anemia, B lymphocytopenia, Neutropenia, Monocytopenia, Myeloid leukemia, ...	OMIM:614172
Immunodeficiency 97 With Autoinflammation	Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, Colitis, Decreased circulating Ig...	OMIM:619802
Talo-Patello-Scaphoid Osteolysis	Osteolysis of talus, Enlarged joints, Osteolysis of scaphoids, Synovitis, Short 4th metacarpal, O...	ORPHA:50809
Lymphoproliferative Syndrome, X-Linked, 2	Hepatomegaly, Pancytopenia, Acne, Recurrent skin infections, Aplastic anemia, Erythema nodosum, S...	OMIM:300635
Heme Oxygenase 1 Deficiency	Hemolytic anemia, Increased circulating interleukin 6 concentration, Elevated circulating C-react...	OMIM:614034
Immunodeficiency 76	Splenomegaly, Recurrent pneumonia, Lymphadenopathy, Growth delay, T lymphocytopenia, Colitis, B l...	OMIM:619164
Congenital Disorder Of Glycosylation, Type Iik	Joint laxity, Epiphyseal dysplasia, Metaphyseal dysplasia, Short stature, Elevated circulating cr...	OMIM:614727
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation	Hepatomegaly, Atrophic gastritis, Psoriasiform dermatitis, Autoimmune hemolytic anemia, Eczema, L...	OMIM:616100
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency	Failure to thrive, Eczema, Autoimmunity, Abnormal immunoglobulin level, Absent peripheral lymph n...	ORPHA:98813
Immunodeficiency 98 With Autoinflammation, X-Linked	Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Neutropenia, Lymphadenopathy, Growth del...	OMIM:301078
Congenital Disorder Of Glycosylation, Type Iip	Elevated hepatic transaminase, Decreased circulating ceruloplasmin concentration, Increased LDL c...	OMIM:616829
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency	Hepatomegaly, Glomerulonephritis, Decreased proportion of marginal zone B cells, Autoimmune throm...	OMIM:619375
Multiple Epiphyseal Dysplasia Type 1	Brachydactyly, Abnormal acetabulum morphology, Joint stiffness, Avascular necrosis of the capital...	ORPHA:93308
Alpha-Heavy Chain Disease	Hepatomegaly, Dysgammaglobulinemia, Splenomegaly, Lymphadenopathy, Growth delay, Ascites, Anemia	ORPHA:100025
Immunodeficiency 24	Decreased circulating IgG level, Lymphopenia, Decreased CD4:CD8 ratio, Reduced proportion of muco...	OMIM:615897
Immunodeficiency 75 With Lymphoproliferation	Follicular hyperplasia, Bronchiectasis, Lymphadenopathy, Decreased proportion of class-switched m...	OMIM:619126
Autosomal Recessive Distal Osteolysis Syndrome	Short stature, Osteolysis, Short distal phalanx of finger	ORPHA:2776
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia	Hepatomegaly, Lymphopenia, Recurrent skin infections, Short stature, Postnatal growth retardation...	OMIM:620210
Acquired Idiopathic Sideroblastic Anemia	Normocytic anemia, Acute myeloid leukemia, Pancytopenia, Anemia of inadequate production, Splenom...	ORPHA:75564
Plin1-Related Familial Partial Lipodystrophy	Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Hypertriglycer...	ORPHA:280356
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia	Failure to thrive in infancy, Cervical lymphadenopathy, Decreased circulating total IgM, B lympho...	OMIM:618987
Macrophage Activation Syndrome	Increased inflammatory response, Hepatomegaly, Increased circulating interleukin 6 concentration,...	ORPHA:158061
Proteasome-Associated Autoinflammatory Syndrome 5	Splenomegaly, Hepatomegaly, Skin rash, Failure to thrive in infancy	OMIM:619175
Fatty Liver Disease, Susceptibility To, 1	Hepatic steatosis	OMIM:613282
Fatty Liver Disease, Susceptibility To, 2	Hepatic steatosis	OMIM:613387
Talo-Patello-Scaphoid Osteolysis, Synovitis, And Short Fourth Metacarpals	Osteolysis of talus, Osteolysis of scaphoids, Synovitis, Short 4th metacarpal, Osteolysis of pate...	OMIM:609655
Immunodeficiency 102	Increased circulating interleukin 6 concentration, Leukopenia, Decreased circulating IgG level, H...	OMIM:301082
Mantle Cell Lymphoma	Splenomegaly, Weight loss, Lymphadenopathy	ORPHA:52416
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy	Camptodactyly of finger, Cachexia, Wrist swelling, Limitation of joint mobility, Osteolysis, Slen...	ORPHA:2774
Lymphoproliferative Syndrome, X-Linked, 1	Hepatomegaly, Pancytopenia, Aplastic anemia, Dysgammaglobulinemia, Reduced natural killer cell ac...	OMIM:308240
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency	Atrophic gastritis, Pure red cell aplasia, Inflammation of the large intestine, Decreased circula...	ORPHA:436159
Neutral Lipid Storage Disease With Myopathy	Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Elevated circulating creatine ...	OMIM:610717
Pseudoachondroplasia	Limited hip extension, Distal joint laxity, Delayed epiphyseal ossification, Metaphyseal widening...	ORPHA:750
Fragile Site, Distamycin A Type, Rare, Fra(16)(Q22.1)	Infertility, Abnormal lymph node morphology	OMIM:136580
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease	Splenomegaly, Abnormal natural killer cell physiology, Decreased circulating antibody level, Hepa...	OMIM:613101
Gaucher Disease	Osteopenia, Joint dislocation, Elevated circulating C-reactive protein concentration, Osteoarthri...	ORPHA:355
Infantile Myofibromatosis	Hypercalcemia, Bone cyst, Limitation of joint mobility, Osteolysis, Abnormal metaphysis morpholog...	ORPHA:2591
Immunodeficiency 82 With Systemic Inflammation	Decreased proportion of naive T cells, Elevated circulating C-reactive protein concentration, T l...	OMIM:619381
Immunodeficiency 109 With Lymphoproliferation	Pancytopenia, Generalized lymphadenopathy, Splenomegaly, Bronchiectasis, Recurrent sinusitis, Abs...	OMIM:620282
Neutropenia, Severe Congenital, 5, Autosomal Recessive	Hepatomegaly, Extramedullary hematopoiesis, Splenomegaly, Thrombocytopenia, Anemia, Leukopenia, I...	OMIM:615285
Coccidioidomycosis	Abnormality of the spleen, Abnormal long bone morphology, Increased circulating IgG level, Morbil...	ORPHA:228123
Charcot-Marie-Tooth Disease, Axonal, Type 2Ee	Elevated hepatic transaminase, Hepatic steatosis, Mildly elevated creatine kinase	OMIM:618400
Hypophosphatemic Rickets With Hypercalciuria, Hereditary	Bulging epiphyses, Thin bony cortex, Enlargement of the ankles, Recurrent fractures, Bowing of th...	OMIM:241530
Epiphyseal Dysplasia, Multiple, 1	Epiphyseal dysplasia, Short metacarpal, Severe short stature, Joint stiffness, Avascular necrosis...	OMIM:132400
Autoinflammatory Disease, Systemic, X-Linked	Anterior uveitis, Complete or near-complete absence of specific antibody response to unconjugated...	OMIM:301081
Lymphoproliferative Syndrome 1	Hepatomegaly, Autoimmune hemolytic anemia, Pancytopenia, Autoimmunity, Autoimmune thrombocytopeni...	OMIM:613011
Omenn Syndrome	Hepatomegaly, Severe B lymphocytopenia, Pneumonia, Eosinophilia, Splenomegaly, Thrombocytopenia, ...	OMIM:603554
Frank-Ter Haar Syndrome	Acne, Camptodactyly of finger, Genu recurvatum, Joint stiffness, Osteolysis, Abnormal metacarpal ...	ORPHA:137834
Neuropathy, Hereditary Sensory And Autonomic, Type Iib	Autoamputation of digits, Osteomyelitis, Osteolytic defects of the phalanges of the hand	OMIM:613115
Dermatoosteolysis, Kirghizian Type	Tarsal synostosis, Abnormality of the wrist, Keratitis, Osteoarthritis, Osteolysis, Abnormal diap...	ORPHA:1657
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy	Clubbing, Decreased circulating antibody level, Growth delay, Iron deficiency anemia, Clubbing of...	OMIM:226300
Drug Reaction With Eosinophilia And Systemic Symptoms	Acute hepatic failure, Elevated hepatic transaminase, Skin rash, Eosinophilia, Pustule, Myocardit...	ORPHA:139402
Combined Immunodeficiency Due To Zap70 Deficiency	Recurrent bacterial skin infections, Autoimmune hemolytic anemia, Skin rash, Pneumonia, Eosinophi...	ORPHA:911
Osteosarcoma	Abnormal femoral metaphysis morphology, Osteolysis, Weight loss, Joint swelling, Abnormal tibial ...	ORPHA:668
Indolent Systemic Mastocytosis	Hepatomegaly, Maculopapular exanthema, Skin rash, Pruritus, Splenomegaly, Lymphadenopathy, Increa...	ORPHA:98848
Diffuse Cutaneous Mastocytosis	Hepatomegaly, Pruritus, Abnormality of the spleen, Lymphadenopathy, Abnormality of the liver, Lym...	ORPHA:79456
Immunodeficiency With Hyper-Igm, Type 4	Autoimmune hemolytic anemia, Osteomyelitis, Impaired Ig class switch recombination, Autoimmune th...	OMIM:608184
Tularemia	Brain abscess, Skin rash, Pneumonia, Erythema nodosum, Abnormal nasopharyngeal adenoid morphology...	ORPHA:3392
Obesity	Increased waist to hip ratio, Obesity, Decreased resting energy expenditure	OMIM:601665
Hemophagocytic Lymphohistiocytosis, Familial, 4	Hepatomegaly, Skin rash, Splenomegaly, Jaundice, Thrombocytopenia, Lymphadenopathy, Conjunctiviti...	OMIM:603552
Chilblain Lupus	Inflammatory abnormality of the skin, Antiphospholipid antibody positivity, Skin rash, Rheumatoid...	ORPHA:90280
Granulomatous Disease, Chronic, Autosomal Recessive, 5	Hemolytic anemia, Acute pancreatitis, Rheumatoid factor positive, Eczema, Short stature, Abscess,...	OMIM:618935
H Syndrome	Hallux valgus, Psoriasiform dermatitis, Hypertriglyceridemia, Recurrent fractures, Short stature,...	ORPHA:168569
Classic Hodgkin Lymphoma	Skin rash, Splenomegaly, Bone pain, Osteolysis, Weight loss, Bone marrow hypocellularity	ORPHA:391
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency	Elevated hepatic transaminase, Hepatomegaly, Autoimmune hemolytic anemia, Abnormal T cell count, ...	ORPHA:331206
Immunodeficiency With Hyper-Igm, Type 3	Impaired Ig class switch recombination, Absence of lymph node germinal center, Impaired memory B ...	OMIM:606843
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells	Pancytopenia, Decreased helper T cell proportion, Hypersplenism, Splenomegaly, Cutaneous anergy	OMIM:183350
Gamma-Heavy Chain Disease	Autoimmune hemolytic anemia, Skin rash, Autoimmune thrombocytopenia, Splenomegaly, Thrombocytopen...	ORPHA:100026
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2	Chronic gastritis, Increased circulating interleukin 6 concentration, Skin rash, Elevated circula...	OMIM:301074
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To	Acute myeloid leukemia, Refractory anemia, Eczema, Leukopenia, Monocytosis, Bone marrow hypocellu...	OMIM:616871
Combined Oxidative Phosphorylation Deficiency 34	Hepatomegaly, Elevated circulating creatinine concentration, Increased blood urea nitrogen, Vomit...	OMIM:617872
Paget Disease Of Bone 2, Early-Onset	Bowing of the long bones, Short femur, Hypercalcemia, Fractures of the long bones, Bone pain, Ost...	OMIM:602080
Inflammatory Bowel Disease 13	Inflammation of the large intestine	OMIM:612244
Inflammatory Bowel Disease (Crohn Disease) 19	Inflammation of the large intestine	OMIM:612278
Vitamin D Hydroxylation-Deficient Rickets, Type 1A	Bowing of the legs, Delayed epiphyseal ossification, Bone pain, Femoral bowing, Tibial bowing, Hy...	OMIM:264700
Immunodeficiency 32B	Sinusitis, Neutrophilia, Pneumonia, Eosinophilia, Thrombocytopenia, Splenomegaly, Bronchiectasis,...	OMIM:226990
Immunodeficiency 18	Recurrent otitis media, Decreased proportion of CD3-positive T cells, Defective T cell proliferat...	OMIM:615615
Vitamin D-Dependent Rickets, Type 2A	Bulging epiphyses, Thin bony cortex, Enlargement of the ankles, Recurrent fractures, Bowing of th...	OMIM:277440
Juvenile Arthritis	Thrombocytosis, Leukocytosis, Skin rash	OMIM:618795
Fibrodysplasia Ossificans Progressiva	Hallux valgus, Short hallux, Limitation of joint mobility, Ectopic ossification in ligament tissu...	ORPHA:337
Cholesteryl Ester Storage Disease	Acute hepatic failure, Decreased HDL cholesterol concentration, Hepatic fibrosis, Vomiting, Hepat...	OMIM:278000
Immunodeficiency 50	Lymphopenia, Neutropenia, Eczema, Decreased circulating antibody level	OMIM:300988
Peeling Skin Syndrome 1	Short stature, Eosinophilia, Pruritus, Increased circulating IgE level, Erythroderma	OMIM:270300
Brachydactylous Dwarfism, Mseleni Type	Osteopenia, Increased inflammatory response, Severe short stature, Protrusio acetabuli, Abnormal ...	ORPHA:2619
Immunodeficiency 8 With Lymphoproliferation	Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc...	OMIM:615401
Paget Disease Of Bone 4	Bone pain, Osteolysis	OMIM:606263
Erdheim-Chester Disease	Increased bone mineral density, Osteomyelitis, Skin rash, Bone pain, Osteolysis, Weight loss, Joi...	ORPHA:35687
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality	Acute myeloid leukemia, Macrocytic anemia, Anisocytosis, Abnormal erythrocyte morphology, Erythro...	ORPHA:86841
Triokinase And Fmn Cyclase Deficiency Syndrome	Hepatomegaly, Failure to thrive in infancy, Elevated circulating alanine aminotransferase concent...	OMIM:618805
Roifman Syndrome	Short stature, Eczema, Eosinophilia, Hypogonadotropic hypogonadism, Postnatal growth retardation,...	ORPHA:353298
Leishmaniasis	Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Abnormal macrophage morphology, Spleno...	ORPHA:507
Fibrous Dysplasia Of Bone	Abnormal tibia morphology, Bone pain, Abnormal femur morphology, Coxa vara, Patchy reduction of b...	ORPHA:249
Mitochondrial Complex Iv Deficiency, Nuclear Type 4	Hyperalaninemia, Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Ele...	OMIM:619048
Familial Cold Autoinflammatory Syndrome 2	Skin rash, Erythema nodosum, Splenomegaly, Leukocytosis, Lymphadenopathy, Arthritis, Recurrent ap...	OMIM:611762
Benign Cephalic Histiocytosis	Inflammatory abnormality of the skin, Skin rash, Histiocytosis	ORPHA:157997
Immunodeficiency 7	Hepatomegaly, Autoimmune hemolytic anemia, Autoimmunity, Splenomegaly, Hypereosinophilia, Neutrop...	OMIM:615387
Immunodeficiency 36 With Lymphoproliferation	Lymphopenia, Short stature, Autoimmunity, Splenomegaly, Enlarged tonsils, Bronchiectasis, Chronic...	OMIM:616005
Congenital Disorder Of Glycosylation, Type Iir	Elevated hepatic transaminase, Hepatomegaly, Jaundice, Micronodular cirrhosis, Decreased circulat...	OMIM:301045
Congenital Disorder Of Glycosylation, Type Ia	Osteopenia, Pericarditis, Failure to thrive, Flexion contracture, Hypoalbuminemia, Hypocholestero...	OMIM:212065
Sclerosteosis	Finger syndactyly, Craniofacial hyperostosis, Increased bone mineral density, 2-3 finger syndacty...	ORPHA:3152
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type	Increased bone mineral density, Short stature, Splenomegaly, Abnormal limb bone morphology, Limb ...	ORPHA:2204
Epiphyseal Dysplasia, Multiple, 5	Epiphyseal dysplasia, Short metacarpal, Short stature, Premature osteoarthritis, Coxa vara, Genu ...	OMIM:607078
Hip Dysplasia, Beukes Type	Abnormality of the epiphysis of the femoral head, Abnormal ossification involving the femoral hea...	ORPHA:2114
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency	Elevated hepatic transaminase, Hepatomegaly, Eczema, Lymphadenitis, Splenomegaly, Leukocytosis, C...	OMIM:615895
Xanthoma Disseminatum	Osteolysis	ORPHA:158003
Neutropenia, Chronic Familial	Clubbing, Clubbing of fingers, Periodontitis, Increased circulating antibody level, Neutropenia	OMIM:162700
Lymphoproliferative Syndrome 2	Hepatomegaly, Pancytopenia, Aplastic anemia, Splenomegaly, Recurrent pneumonia, EBV encephalitis,...	OMIM:615122
Gaucher Disease, Atypical, Due To Saposin C Deficiency	Osteopenia, Hypersplenism, Thrombocytopenia, Splenomegaly, Bone pain, Hypocholesterolemia, Erlenm...	OMIM:610539
Osteogenesis Imperfecta, Type Xxii	Bowing of the long bones, Short stature, Recurrent fractures, Abnormal circulating calcium concen...	OMIM:619795
Immunodeficiency 31C	Osteopenia, Lymphopenia, Impaired lymphocyte transformation with phytohemagglutinin, Osteomyeliti...	OMIM:614162
Hyper-Ige Syndrome 5, Autosomal Recessive, With Recurrent Infections	Increased circulating interleukin 6 concentration, Recurrent skin infections, Increased circulati...	OMIM:618944
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor	Bulging epiphyses, Bowing of the long bones, Thin bony cortex, Rickets of the lower limbs, Delaye...	OMIM:600785
Weismann-Netter Syndrome	Bowing of the long bones, Severe short stature, Abnormal morphology of ulna, Abnormality of the h...	ORPHA:3344
Glycoprotein Storage Disease	Splenomegaly, Gout	OMIM:232900
B-Cell Expansion With Nfkb And T-Cell Anergy	Decreased specific antibody response to polysaccharide vaccine, Splenomegaly, Decreased circulati...	OMIM:616452
Immunodeficiency 53	Impaired lymphocyte transformation with phytohemagglutinin, Neutrophilia, Skin rash, Recurrent pn...	OMIM:617585
Agammaglobulinemia 8B, Autosomal Recessive	Pancytopenia, Failure to thrive, Splenomegaly, Decreased proportion of CD8-positive, alpha-beta T...	OMIM:619824
Gastrointestinal Defects And Immunodeficiency Syndrome 1	Impaired lymphocyte transformation with phytohemagglutinin, Autoimmune hemolytic anemia, Psoriasi...	OMIM:243150
Hyperostosis Corticalis Generalisata	Generalized osteosclerosis, Abnormal cortical bone morphology, Cranial hyperostosis, Diaphyseal t...	ORPHA:3416
Patent Ductus Venosus	Hypergalactosemia, Hepatic steatosis, Decreased liver function, Hyperammonemia	OMIM:601466
Maffucci Syndrome	Short stature, Recurrent fractures, Bone pain, Osteolysis, Growth delay, Multiple enchondromatosis	ORPHA:163634
Autoinflammation With Episodic Fever And Lymphadenopathy	Hepatomegaly, Rheumatoid factor positive, Microcytic anemia, Antinuclear antibody positivity, Spl...	OMIM:618852
Mast Cell Sarcoma	Hepatomegaly, Mediastinal lymphadenopathy, Splenomegaly, Lymphadenopathy, Weight loss, Mastocytosis	ORPHA:66661
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome	Pancytopenia, Skin rash, Eczema, Elevated circulating C-reactive protein concentration, Erythema ...	OMIM:615688
Immunodeficiency With Hyper-Igm, Type 1	Decreased circulating IgE, Neutropenia, Decreased circulating IgG level, Hepatomegaly, Hemolytic ...	OMIM:308230
Citrullinemia, Type Ii, Adult-Onset	Hypertriglyceridemia, Portal inflammation, Elevated circulating alanine aminotransferase concentr...	OMIM:603471
Spondyloepiphyseal Dysplasia Tarda	Abnormality of the tibial plateaux, Osteoarthritis of the distal interphalangeal joint, Limited e...	ORPHA:93284
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive	Pneumonia, Purulent rhinitis, Arthritis, T lymphocytopenia, Conjunctivitis, B lymphocytopenia, Ot...	OMIM:601457
Melorheostosis With Osteopoikilosis	Complete duplication of the distal phalanges of the hand, Osteopoikilosis, Abnormal cortical bone...	ORPHA:1879
Endosteal Hyperostosis, Worth Type	Craniofacial hyperostosis, Generalized osteosclerosis, Clavicular sclerosis, Abnormal cortical bo...	ORPHA:2790
Agammaglobulinemia 9, Autosomal Recessive	Failure to thrive, Seborrheic dermatitis, Agammaglobulinemia, Absent circulating B cells, Eczemat...	OMIM:619693
Nodular Lymphocyte Predominant Hodgkin Lymphoma	Hepatomegaly, Pruritus, Splenomegaly, Weight loss, Lymphadenopathy	ORPHA:86893
Hypocalcemic Vitamin D-Dependent Rickets	Irregular, rachitic-like metaphyses, Delayed epiphyseal ossification, Bone pain, Tibial bowing, F...	ORPHA:289157
Coronary Artery Disease, Autosomal Dominant 2	Increased LDL cholesterol concentration, Hypertriglyceridemia, Osteoporosis, Gout	OMIM:610947
Sapho Syndrome	Psoriasiform dermatitis, Acne, Osteomyelitis, Skin rash, Recurrent skin infections, Pustule, Abno...	ORPHA:793
Leukocyte Adhesion Deficiency, Type Iii	Hepatomegaly, Extramedullary hematopoiesis, Recurrent skin infections, Splenomegaly, Leukocytosis...	OMIM:612840
Hypophosphatemic Rickets, X-Linked Recessive	Bulging epiphyses, Thin bony cortex, Enlargement of the ankles, Osteomalacia, Recurrent fractures...	OMIM:300554
Classic Mycosis Fungoides	Hepatomegaly, Skin rash, Eczema, Pruritus, Splenomegaly, Lymphadenopathy, Abnormal lymphocyte mor...	ORPHA:2584
Reticuloendotheliosis, X-Linked	Jaundice, Lymphadenopathy, Anemia, Hepatosplenomegaly	OMIM:312500
Familial Partial Lipodystrophy, Köbberling Type	Hepatomegaly, Hepatic steatosis, Pancreatitis, Lipoatrophy	ORPHA:79084
Isolated Agammaglobulinemia	Recurrent cutaneous abscess formation, Sinusitis, Skin rash, Pneumonia, Abnormality of neutrophil...	ORPHA:229717
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum	Osteopenia, Arthropathy, Abnormal hand morphology, Sclerotic cranial sutures, Osteolysis involvin...	ORPHA:371428
Rothmund-Thomson Syndrome	Calcinosis, Hypoplasia of the ulna, Osteopenia, Abnormal trabecular bone morphology, Skin rash, S...	ORPHA:2909
Farber Lipogranulomatosis	Osteolysis involving bones of the feet, Hyperextensibility of the finger joints, Ulnar deviation ...	OMIM:228000
Q Fever	Pericarditis, Osteomyelitis, Maculopapular exanthema, Pneumonia, Myocarditis, Thrombocytopenia, S...	ORPHA:781
Cinca Syndrome	Joint dislocation, Abnormality of thrombocytes, Elevated circulating C-reactive protein concentra...	ORPHA:1451
Short Stature, Dauber-Argente Type	Long toe, Osteopenia, Arachnodactyly, Short stature, Decreased fibular diameter, Postnatal growth...	OMIM:619489
Mixed Connective Tissue Disease	Hemolytic anemia, Myositis, Pericarditis, Skin rash, Gastritis, Joint stiffness, Myocarditis, Spl...	ORPHA:809
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive	Anemia, Leukocytosis, Elevated circulating C-reactive protein concentration, Ulcerative colitis	OMIM:619398
Idiopathic Copper-Associated Cirrhosis	Decreased circulating ceruloplasmin concentration, Copper accumulation in liver, Cirrhosis, Incre...	ORPHA:209919
Citrullinemia, Type Ii, Neonatal-Onset	Hypertyrosinemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Elevated circula...	OMIM:605814
Idiopathic Hypereosinophilic Syndrome	Myelofibrosis, Cholangitis, Colitis, Neutrophilia, Ankle swelling, Leukocytosis, Clubbing, Chroni...	ORPHA:3260
Autoimmune Lymphoproliferative Syndrome	Rheumatoid factor positive, Uveitis, Increased circulating IgG level, Colitis, Lymphocytosis, Inc...	ORPHA:3261
Immunodeficiency, Common Variable, 8, With Autoimmunity	Atrophic gastritis, Generalized lymphadenopathy, Uveitis, Inflammation of the large intestine, Co...	OMIM:614700
Lipodystrophy, Familial Partial, Type 4	Lipoatrophy, Lipodystrophy, Hepatic steatosis, Hypertriglyceridemia	OMIM:613877
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome	Abscess, Intermittent thrombocytopenia, Abnormal CD4:CD8 ratio, Splenomegaly, Recurrent pneumonia...	OMIM:150550
Dietary Iron Overload Disease	Hepatomegaly, Viral hepatitis, Hepatocellular carcinoma, Increased circulating ferritin concentra...	ORPHA:139507
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome	Small for gestational age, Eczema, Failure to thrive in infancy, Decreased proportion of CD8-posi...	OMIM:617241
Congenital Insensitivity To Pain With Severe Intellectual Disability	Osteomyelitis, Small for gestational age, Rocker bottom foot, Recurrent fractures, Keratitis, Tib...	ORPHA:453510
Generalized Pseudohypoaldosteronism Type 1	Hyponatremia, Osteomyelitis, Failure to thrive in infancy, Proportionate short stature, Pustule, ...	ORPHA:171876
Lipodystrophy, Familial Partial, Type 6	Lipodystrophy, Elevated circulating creatine kinase concentration, Hyperlipidemia, Abdominal obes...	OMIM:615980
Rothmund-Thomson Syndrome Type 2	Osteopenia, Joint dislocation, Aplastic anemia, Patellar hypoplasia, Neutropenia, Short phalanx o...	ORPHA:221016
Fanconi-Like Syndrome	Pancytopenia, Osteomyelitis	OMIM:227850
Gaucher Disease Type 3	Increased bone mineral density, Pancytopenia, Thrombocytopenia, Splenomegaly, Delayed skeletal ma...	ORPHA:77261
Diaphyseal Medullary Stenosis With Malignant Fibrous Histiocytoma	Osteopenia, Stenosis of the medullary cavity of the long bones, Diaphyseal cortical sclerosis, Bo...	OMIM:112250
Ramon Syndrome	Failure to thrive, Osteolysis	ORPHA:3019
Hemochromatosis, Type 3	Increased circulating ferritin concentration, Elevated transferrin saturation, Arthritis, Increas...	OMIM:604250
Immunodeficiency With Hyper-Igm, Type 5	Impaired Ig class switch recombination, Epididymitis, Lymphadenopathy, Increased circulating IgM ...	OMIM:608106
Keratoderma Hereditarium Mutilans	Autoamputation of digits, Osteolysis	ORPHA:494
Netherton Syndrome	Failure to thrive, Recurrent skin infections, Allergic rhinitis, Eczema, Increased circulating Ig...	OMIM:256500
Osteopetrosis, Autosomal Recessive 7	Abnormal trabecular bone morphology, Femur fracture, Splenomegaly, Recurrent pneumonia, Anemia, D...	OMIM:612301
Cinca Syndrome	Skin rash, Eosinophilia, Elevated circulating C-reactive protein concentration, Leukocytosis, Pat...	OMIM:607115
Generalized Eruptive Histiocytosis	Maculopapular exanthema, Pruritus, Hypereosinophilia, Lymphadenopathy, Leukemia, Histiocytosis	ORPHA:157991
Rothmund-Thomson Syndrome Type 1	Osteopenia, Aplastic anemia, Patellar hypoplasia, Neutropenia, Short phalanx of finger, Genu varu...	ORPHA:221008
Congenital Erythropoietic Porphyria	Osteopenia, Recurrent bacterial skin infections, Hemolytic anemia, Reticulocytosis, Anisocytosis,...	ORPHA:79277
Reticular Dysgenesis	Skin rash, Abnormality of neutrophils, Decreased circulating antibody level, Weight loss, Leukope...	ORPHA:33355
Purine Nucleoside Phosphorylase Deficiency	Autoimmune hemolytic anemia, Sinusitis, Failure to thrive, Pneumonia, Impaired T cell function, A...	OMIM:613179
Parenteral Nutrition-Associated Cholestasis	Elevated hepatic transaminase, Hepatomegaly, Small for gestational age, Portal hypertension, Bili...	ORPHA:567983
Caffey Disease	Periosteal thickening of long tubular bones, Cortical thickening of long bone diaphyses, Increase...	ORPHA:1310
Immunodeficiency 54	Hepatomegaly, Failure to thrive, Short stature, Postnatal growth retardation, Splenomegaly, Lymph...	OMIM:609981
Proteasome-Associated Autoinflammatory Syndrome 3	Elevated hepatic transaminase, Hepatomegaly, Myositis, Sinusitis, Skin rash, Failure to thrive, S...	OMIM:617591
Squamous Cell Carcinoma Of The Esophagus	Lymphadenopathy	ORPHA:99977
Selective Igm Deficiency	Fasciitis, Lymphadenitis, Paraproteinemia, Recurrent cutaneous fungal infections, Decreased propo...	ORPHA:331235
Hemochromatosis, Type 4	Hepatomegaly, Increased circulating ferritin concentration, Osteoarthritis, Elevated transferrin ...	OMIM:606069
Neutrophilia, Hereditary	Splenomegaly, Neutrophilia	OMIM:162830
Autosomal Recessive Hypophosphatemic Rickets	Bone pain, Coxa vara, Tibial bowing, Enthesitis, Hypophosphatemic rickets, Hypocalcemic tetany, G...	ORPHA:289176
Cidec-Related Familial Partial Lipodystrophy	Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Hypertriglyceridemia, Lipodystrophy, ...	ORPHA:435651
Adult-Onset Still Disease	Pericarditis, Neutrophilia, Skin rash, Elevated circulating C-reactive protein concentration, Car...	ORPHA:829
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia	Abnormally low T cell receptor excision circle level, Monocytopenia, Generalized lymphadenopathy,...	OMIM:618986
Spondyloepimetaphyseal Dysplasia, Irapa Type	Short metacarpal, Micromelia, Osteoarthritis, Limitation of joint mobility, Abnormal carpal morph...	ORPHA:93351
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome	T lymphocytopenia, Recurrent aspiration pneumonia, Hepatomegaly, Portal hypertension, Hepatosplen...	ORPHA:79124
Aicardi-Goutieres Syndrome 6	Hepatomegaly, Hemolytic anemia, Chilblains, Splenomegaly, Intrauterine growth retardation, Thromb...	OMIM:615010
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency	Decreased HDL cholesterol concentration, Hypoalbuminemia, Hepatic steatosis, Hyperthreoninemia, H...	ORPHA:247598
Short Chain Acyl-Coa Dehydrogenase Deficiency	Elevated circulating acylcarnitine concentration, Failure to thrive, Hepatic steatosis	ORPHA:26792
Lipodystrophy, Familial Partial, Type 5	Hepatomegaly, Hypertriglyceridemia, Lipodystrophy, Hepatic steatosis, Increased C-peptide level	OMIM:615238
Mendelian Susceptibility To Mycobacterial Diseases Due To Partial Irf8 Deficiency	Lymphadenopathy	ORPHA:319600
Lipodystrophy, Familial Partial, Type 3	Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Decreased HDL ...	OMIM:604367
C1Q Deficiency 2	Chilblains, Elevated circulating C-reactive protein concentration, Discoid lupus rash, Bronchiect...	OMIM:620321
Leukocyte Adhesion Deficiency, Type I	Osteomyelitis, Elevated circulating C-reactive protein concentration, Leukocytosis, Chronic mucoc...	OMIM:116920
Pfapa Syndrome	Hepatomegaly, Splenomegaly, Lymphadenopathy, Weight loss, Arthritis, Infectious encephalitis	ORPHA:42642
Systemic Sclerosis	Abnormal phalangeal joint morphology of the hand, Pericarditis, Osteomyelitis, Recurrent skin inf...	ORPHA:90291
Mandibuloacral Dysplasia With Type B Lipodystrophy	Calcinosis, Short stature, Abnormal fingertip morphology, Hyperlipidemia, Osteolysis, Osteolytic ...	ORPHA:90154
Bullous Diffuse Cutaneous Mastocytosis	Cutaneous mastocytosis, Pruritus, Erythroderma	ORPHA:280785
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency	Agammaglobulinemia, Metaphyseal chondrodysplasia, Lymphopenia, Hypoplasia of the thymus	OMIM:200900
Griscelli Syndrome	Hepatomegaly, Short stature, Abnormality of neutrophils, Splenomegaly, Jaundice, Hepatitis, Decre...	ORPHA:381
Pyle Disease	Metaphyseal dysplasia, Metaphyseal widening, Reduced bone mineral density, Genu valgum, Cubitus v...	OMIM:265900
Peroxisomal Acyl-Coa Oxidase Deficiency	Elevated hepatic transaminase, Hepatomegaly, Very long chain fatty acid accumulation, Dysphagia, ...	OMIM:264470
Mandibuloacral Dysplasia With Type A Lipodystrophy	Short stature, Hyperlipidemia, Flexion contracture, Limitation of joint mobility, Osteolysis, Ost...	ORPHA:90153
Dehydrated Hereditary Stomatocytosis 2	Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Increased mean corpuscular hemog...	OMIM:616689
Deafness-Lymphedema-Leukemia Syndrome	Hepatomegaly, Abnormal neutrophil count, Splenomegaly, Leukocytosis, Lymphadenopathy, Acute leuke...	ORPHA:3226
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome	Hypertriglyceridemia, Hepatic steatosis	ORPHA:436182
Cranio-Osteoarthropathy	Abnormality of the knee, Eczema, Joint stiffness, Abnormal tibia morphology, Osteoarthritis, Club...	ORPHA:1525
Grant Syndrome	Joint dislocation, Bowing of the long bones, Short stature, Joint hyperflexibility, Abnormal pelv...	ORPHA:2097
Neutropenia, Severe Congenital, 2, Autosomal Dominant	Monocytosis, B lymphocytopenia, Neutropenia	OMIM:613107
Dent Disease 1	Bulging epiphyses, Thin bony cortex, Enlargement of the ankles, Osteomalacia, Recurrent fractures...	OMIM:300009
Neutropenia, Severe Congenital, 4, Autosomal Recessive	Lymphopenia, Intermittent thrombocytopenia, Perianal abscess, Erythroid hypoplasia, Thrombocytope...	OMIM:612541
Metatropic Dysplasia	Severe short stature, Camptodactyly of finger, Micromelia, Abnormal enchondral ossification, Join...	ORPHA:2635
Cholestasis, Progressive Familial Intrahepatic, 10	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Conjugated hyperbili...	OMIM:619868
Immunodeficiency 60 And Autoimmunity	Pancytopenia, Splenomegaly, Perinuclear antineutrophil antibody positivity, Bronchiectasis, Ulcer...	OMIM:618394
Kaposiform Lymphangiomatosis	Abnormal ischium morphology, Abnormal pelvis bone morphology, Abnormal humerus morphology, Fractu...	ORPHA:464329
Fusariosis	Brain abscess, Fasciitis, Sinusitis, Maculopapular exanthema, Myositis, Pneumonia, Osteomyelitis,...	ORPHA:228119
Immunodeficiency 12	Skin rash, Abnormal lymphocyte count, Short stature, Delayed skeletal maturation, Clubbing, Cheil...	OMIM:615468
Lipe-Related Familial Partial Lipodystrophy	Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Hypertriglyceridemia, Lipodystrophy, ...	ORPHA:435660
Primary Myelofibrosis	Pancytopenia, Extramedullary hematopoiesis, Cachexia, Thrombocytopenia, Leukocytosis, Splenomegal...	ORPHA:824
Ddost-Cdg	Elevated hepatic transaminase, Lipodystrophy, Gastroesophageal reflux, Constipation, Failure to t...	ORPHA:300536
Congenital Amegakaryocytic Thrombocytopenia	Short stature, Abnormal hemoglobin, Anemia, Decreased skull ossification, Thrombocytopenia	ORPHA:3319
Desbuquois Dysplasia 1	Joint dislocation, Triangular shaped phalanges of the hand, Metaphyseal widening, Osteoarthritis,...	OMIM:251450
Cholestasis, Progressive Familial Intrahepatic, 12	Hepatomegaly, Short stature, Elevated circulating aspartate aminotransferase concentration, Pruri...	OMIM:620010
Angioosteohypotrophic Syndrome	Hypoplasia of the ulna, Short humerus, Abnormal trabecular bone morphology, Aplasia/hypoplasia in...	ORPHA:75508
Carnitine Palmitoyltransferase I Deficiency	Elevated hepatic transaminase, Hepatomegaly, Elevated circulating aspartate aminotransferase conc...	OMIM:255120
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency	Hypertriglyceridemia, Hepatitis, Cholestasis, Obesity, Increased LDL cholesterol concentration, A...	ORPHA:209902
Immunodeficiency With Hyper-Igm, Type 2	Impaired Ig class switch recombination, Lymphadenopathy, Increased circulating IgM level, Decreas...	OMIM:605258
Roifman Syndrome	Hepatomegaly, Short stature, Eczema, Eosinophilia, Postnatal growth retardation, Splenomegaly, Re...	OMIM:616651
Agammaglobulinemia, X-Linked	T lymphocytopenia, Conjunctivitis, Decreased circulating IgE, Neutropenia, Decreased circulating ...	OMIM:300755
Combined Oxidative Phosphorylation Deficiency 9	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating...	OMIM:614582
Ck Syndrome	Abnormal cortical bone morphology, Abnormal digit morphology, Joint hypermobility, Slender build	OMIM:300831
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome	Hip contracture, Osteolysis involving bones of the upper limbs, Osteolysis, Osteolysis involving ...	ORPHA:464321
Congenital Bile Acid Synthesis Defect Type 2	Elevated hepatic transaminase, Giant cell hepatitis, Hepatomegaly, Failure to thrive, Conjugated ...	ORPHA:79303
Hypophosphatemic Rickets, X-Linked Dominant	Shortening of the talar neck, Short stature, Osteomalacia, Bowing of the legs, Abnormal circulati...	OMIM:307800
Medium Chain Acyl-Coa Dehydrogenase Deficiency	Elevated hepatic transaminase, Hepatomegaly, Elevated circulating creatine kinase concentration, ...	ORPHA:42
Congenital Atransferrinemia	Arthritis, Anemia	ORPHA:1195
Severe Neurodegenerative Syndrome With Lipodystrophy	Reduced subcutaneous adipose tissue, Hepatomegaly, Hypertriglyceridemia, Reduced intraabdominal a...	ORPHA:363400
Combined Oxidative Phosphorylation Deficiency 52	Elevated circulating aspartate aminotransferase concentration, Elevated circulating creatine kina...	OMIM:619386
Boutonneuse Fever	Elevated hepatic transaminase, Skin rash, Maculopapular exanthema, Cervical lymphadenopathy, Lymp...	ORPHA:83313
Akt2-Related Familial Partial Lipodystrophy	Hepatomegaly, Hypertriglyceridemia, Lipodystrophy, Increased intraabdominal fat, Hepatic steatosis	ORPHA:79085
Thrombocythemia 3	Thrombocytosis	OMIM:614521
Cervical Hypertrichosis-Peripheral Neuropathy Syndrome	Periostitis, Osteomyelitis	ORPHA:2218
Kimura Disease	Eosinophilia, Increased circulating IgE level, Lymphadenopathy, Follicular hyperplasia	ORPHA:482
Paget Disease Of Bone 3	Fractures of the long bones, Bone pain, Osteolysis, Patchy osteosclerosis	OMIM:167250
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial	Hepatic failure, Hepatic steatosis	OMIM:261650
Familial Cold Autoinflammatory Syndrome 1	Skin rash, Elevated circulating C-reactive protein concentration, Leukocytosis, Uveitis, Arthriti...	OMIM:120100
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities	Eosinophilia, Disproportionate short stature, Decreased circulating antibody level, Erythroderma,...	OMIM:617425
Endove Syndrome, Limb-Brain Type	Joint laxity, Osteomyelitis, Toe syndactyly, Aplasia of the 3rd finger, Triangular tibia, Failure...	OMIM:619218
Immunodeficiency 38 With Basal Ganglia Calcification	Lymphadenopathy	OMIM:616126
Specific Granule Deficiency 2	Osteopenia, Absent neutrophil specific granules, Sandal gap, Thrombocytopenia, Recurrent pneumoni...	OMIM:617475
Acquired Partial Lipodystrophy	Lipoatrophy, Hepatic steatosis	ORPHA:79087
Porphyria, Congenital Erythropoietic	Osteopenia, Hemolytic anemia, Short stature, Splenomegaly, Osteolysis, Conjunctivitis, Elevated c...	OMIM:263700
Citrullinemia Type Ii	Elevated hepatic transaminase, Hepatomegaly, Decreased body mass index, Hypertriglyceridemia, Dec...	ORPHA:247585
Ataxia-Pancytopenia Syndrome	Pancytopenia, Abnormal macrophage morphology, Abnormality of neutrophils, Splenomegaly, Acute mye...	ORPHA:2585
Multiple Epiphyseal Dysplasia Due To Collagen 9 Anomaly	Abnormality of the epiphyses of the elbow, Abnormality of the knee, Abnormal patella morphology, ...	ORPHA:166002
Bone Marrow Failure Syndrome 4	Short stature, Eczema, Rhizomelia, Thrombocytopenia, Decreased circulating antibody level, Leukop...	OMIM:618116
Eosinophilopenia	Autoimmunity	OMIM:131430
Wormian Bone-Multiple Fractures-Dentinogenesis Imperfecta-Skeletal Dysplasia	Short stature, Limitation of joint mobility, Upper limb undergrowth, Short foot, Toe clinodactyly...	ORPHA:166277
Trichohepatoenteric Syndrome 1	Small for gestational age, Short stature, Increased mean platelet volume, Avascular necrosis of t...	OMIM:222470
Immunodeficiency 95	Lymphopenia, Decreased circulating IgG3 level, Increased circulating IgG3 level, Recurrent viral ...	OMIM:619773
Autoinflammation, Panniculitis, And Dermatosis Syndrome	Neutrophilia, Skin rash, Failure to thrive in infancy, Increased circulating IgA level, Leukocyto...	OMIM:617099
Incontinentia Pigmenti	Finger syndactyly, Skin rash, Camptodactyly of finger, Eosinophilia, Short stature, Keratitis, Ab...	ORPHA:464
Immunodeficiency 84	Perianal abscess, Splenomegaly, B lymphocytopenia	OMIM:619437
Systemic-Onset Juvenile Idiopathic Arthritis	Anterior uveitis, Pericarditis, Hepatomegaly, Skin rash, Autoimmunity, Splenomegaly, Lymphadenopa...	ORPHA:85414
Congenital Disorder Of Glycosylation, Type Iio	Elevated hepatic transaminase, Hepatomegaly, Decreased circulating ceruloplasmin concentration, E...	OMIM:616828
Immunodeficiency 58	Recurrent cutaneous abscess formation, Short stature, Eczema, Allergic rhinitis, Seborrheic derma...	OMIM:618131
Pseudoachondroplasia	Limited hip extension, Genu recurvatum, Delayed epiphyseal ossification, Metaphyseal widening, Os...	OMIM:177170
Hypophosphatasia	Bowing of the long bones, Failure to thrive in infancy, Hypercalcemia, Craniosynostosis, Recurren...	ORPHA:436
Carnitine Deficiency, Systemic Primary	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating...	OMIM:212140
Thrombocythemia 1	Splenomegaly, Impaired ADP-induced platelet aggregation, Impaired collagen-induced platelet aggre...	OMIM:187950
Carnitine Palmitoyltransferase Ii Deficiency, Infantile	Elevated hepatic transaminase, Hepatomegaly, Elevated circulating creatine kinase concentration, ...	OMIM:600649
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)	Fulminant hepatic failure, Hepatomegaly, Elevated circulating aspartate aminotransferase concentr...	OMIM:618528
Thrombocythemia 2	Thrombocytosis	OMIM:601977
Autoinflammation With Arthritis And Dyskeratosis	Hepatomegaly, Autoimmune hemolytic anemia, Increased circulating IgA level, Antinuclear antibody ...	OMIM:617388
Papillon-Lefèvre Syndrome	Recurrent cutaneous abscess formation, Liver abscess, Severe periodontitis, Arachnodactyly, Recur...	ORPHA:678
Metaphyseal Dysplasia, Braun-Tinschert Type	Osteopenia, Broad tibial metaphyses, Humerus varus, Tibial bowing, Exostoses of the ulna, Scleros...	ORPHA:85188
Eng-Strom Syndrome	Short stature, Camptodactyly of finger, Arthritis, Intrauterine growth retardation, Brachydactyly	ORPHA:1937
Congenital Toxoplasmosis	Elevated hepatic transaminase, Hepatomegaly, Failure to thrive in infancy, Cardiomegaly, Thromboc...	ORPHA:858
Polycythemia Vera	Splenomegaly, Leukocytosis, Increased hemoglobin, Increased red blood cell mass, Increased hemato...	OMIM:263300
Autoinflammation With Infantile Enterocolitis	Pancytopenia, Failure to thrive, Skin rash, Short stature, Reduced natural killer cell activity, ...	OMIM:616050
Ehlers-Danlos Syndrome, Arthrochalasia Type, 1	Hallux valgus, Osteopenia, Joint laxity, Contracture of the proximal interphalangeal joint of the...	OMIM:130060
3-Hydroxy-3-Methylglutaric Aciduria	Acute pancreatitis, Leukocytosis, Hyperammonemia, Weight loss, Leukopenia, Hyperuricemia, Thrombo...	ORPHA:20
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome	Splenomegaly, Hepatomegaly, Persistence of hemoglobin F, Anemia	ORPHA:46532
Rotor Syndrome	Conjugated hyperbilirubinemia, Jaundice, Intermittent jaundice, Hyperbilirubinemia, Storage in he...	ORPHA:3111
Hypereosinophilic Syndrome, Idiopathic	Hepatomegaly, Eosinophilia, Pruritus, Splenomegaly, Myeloproliferative disorder	OMIM:607685
Obesity And Hypopigmentation	Hepatic steatosis, Obesity	OMIM:620195
Osteomesopyknosis	Increased bone mineral density, Abnormal cortical bone morphology	ORPHA:2777
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative	Impaired lymphocyte transformation with phytohemagglutinin, Absent natural killer cells, Failure ...	OMIM:600802
Mendelian Susceptibility To Mycobacterial Diseases Due To Complete Il12Rb1 Deficiency	Abnormal circulating interleukin concentration, Lymphadenitis, Salmonella osteomyelitis, Pneumonia	ORPHA:319552
Immunodeficiency 57 With Autoinflammation	Failure to thrive, Skin rash, Gastritis, Perianal abscess, Bronchiectasis, Decreased circulating ...	OMIM:618108
X-Linked Hypophosphatemia	Bowing of the legs, Generalized osteosclerosis, Bone pain, Trapezoidal distal femoral condyles, E...	ORPHA:89936
Galactose Epimerase Deficiency	Hepatomegaly, Splenomegaly, Jaundice, Weight loss, Growth delay	ORPHA:79238
Immunodeficiency 42	Hepatomegaly, Splenomegaly, Recurrent cutaneous fungal infections, Hypoplasia of the thymus, Recu...	OMIM:616622
Immunodeficiency, Common Variable, 7	Splenomegaly, Chronic (near) absent circulating IgG4, Reduced isohemagglutinin level, Chronic par...	OMIM:614699
Alpha-Mannosidosis	Craniofacial hyperostosis, Bowing of the long bones, Splenomegaly, Delayed skeletal maturation, A...	ORPHA:61
Inflammatory Skin And Bowel Disease, Neonatal, 1	Pustule, Increased circulating IgE level, Erythroderma, Failure to thrive, Blepharitis	OMIM:614328
Trimethylaminuria	Splenomegaly, Recurrent pneumonia, Anemia, Neutropenia	OMIM:602079
Chronic Recurrent Multifocal Osteomyelitis 3	Palmoplantar pustulosis, Osteomyelitis, Bone pain	OMIM:259680
Papa Syndrome	Increased inflammatory response, Myositis, Acne, Pustule, Lymphadenopathy, Arthritis, Increased c...	ORPHA:69126
Angel-Shaped Phalangoepiphyseal Dysplasia	Hyperextensibility of the finger joints, Pseudoepiphyses of the metacarpals, Short stature, Prema...	OMIM:105835
Combined Oxidative Phosphorylation Deficiency 21	Hyperalaninemia, Hepatic steatosis, Hyperprolinemia	OMIM:615918
Chylomicron Retention Disease	Elevated hepatic transaminase, Hypertriglyceridemia, Hypocholesterolemia, Diarrhea, Vomiting, Ste...	ORPHA:71
Progressive Pseudorheumatoid Dysplasia	Arthropathy, Enlarged epiphyses, Enlarged interphalangeal joints, Camptodactyly of finger, Joint ...	OMIM:208230
Melorheostosis	Increased bone mineral density, Joint stiffness, Bone pain, Arthritis, Hyperostosis, Ectopic ossi...	ORPHA:2485
Nestor-Guillermo Progeria Syndrome	Wide cranial sutures, Short stature, Limited elbow movement, Joint stiffness, Delayed closure of ...	OMIM:614008
Diabetes Mellitus, Ketosis-Prone	Autoimmunity	OMIM:612227
Mitochondrial Complex Iv Deficiency, Nuclear Type 6	Hepatic steatosis, Bloody diarrhea	OMIM:615119
Mevalonic Aciduria	Elevated hepatic transaminase, Normocytic hypoplastic anemia, Failure to thrive, Skin rash, Short...	OMIM:610377
Neuropathy, Hereditary Sensory, Type Id	Autoamputation of digits, Osteomyelitis	OMIM:613708
Autoimmune Hepatitis	Elevated hepatic transaminase, Viral hepatitis, Gastrointestinal hemorrhage, Diffuse hepatic stea...	ORPHA:2137
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)	Elevated hepatic transaminase, Hepatomegaly, Failure to thrive, Portal hypertension, Elevated cir...	OMIM:251880
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies	Osteopenia, Chronic oral candidiasis, Psoriasiform dermatitis, Decreased proportion of CD4-positi...	ORPHA:221139
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome	Elevated hepatic transaminase, Hepatomegaly, Loss of subcutaneous adipose tissue in limbs, Hypert...	OMIM:615381
Alpha-Mannosidosis, Infantile Form	Osteopenia, Joint laxity, Pancytopenia, Pneumonia, Craniosynostosis, Joint stiffness, Cranial hyp...	ORPHA:309282
Generalized Pustular Psoriasis	Elevated hepatic transaminase, Pustule, Overweight, Leukocytosis, Cheilitis, Uveitis, Obesity, Ar...	ORPHA:247353
Zika Virus Disease	Maculopapular exanthema, Skin rash, Ankle swelling, Wrist swelling, Thrombocytopenia, Arthritis, ...	ORPHA:448237
Charcot-Marie-Tooth Disease, Axonal, Type 2B	Foot osteomyelitis, Hammertoe	OMIM:600882
Hepatoerythropoietic Porphyria	Osteopenia, Recurrent bacterial skin infections, Hemolytic anemia, Abnormal circulating porphyrin...	ORPHA:95159
Glycogen Storage Disease Ixb	Hepatomegaly, Splenomegaly, Diarrhea, Increased muscle glycogen content, Hyperuricemia, Increased...	OMIM:261750
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase	Splenomegaly, Recurrent pancreatitis	OMIM:118830
Desmoid Tumor	Limitation of joint mobility, Osteolysis	ORPHA:873
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy	Eosinophilic infiltration of the esophagus, Perianal abscess, Leukocytosis, Increased circulating...	OMIM:618213
Congenital Bile Acid Synthesis Defect Type 1	Elevated hepatic transaminase, Hepatomegaly, Pruritus, Splenomegaly, Jaundice, Biliary tract abno...	ORPHA:79301
Fibular Hemimelia	Bowing of the legs, Tibial bowing, Increased laxity of ankles, Foot oligodactyly, Abnormal bone o...	ORPHA:93323
Multicentric Reticulohistiocytosis	Arthritis, Cachexia, Histiocytosis	ORPHA:139436
Autoinflammatory-Pancytopenia Syndrome	Pancytopenia, Membranoproliferative glomerulonephritis, Intestinal inflammation, Chilblains, Hepa...	OMIM:619858
Hajdu-Cheney Syndrome	Osteopenia, Bowing of the long bones, Coarse metaphyseal trabecularization, Brachydactyly, Failur...	ORPHA:955
Wilson Disease	Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Splenomegaly, Jaundice, Hepat...	ORPHA:905
Autoimmune Disease, Multisystem, Infantile-Onset, 1	Autoimmune hemolytic anemia, Short stature, Autoimmunity, Eczema, Autoimmune thrombocytopenia, Ne...	OMIM:615952
Agammaglobulinemia 7, Autosomal Recessive	Erythema nodosum, Agammaglobulinemia, Neutropenia, Reduced natural killer cell count, Panhypogamm...	OMIM:615214
Prolidase Deficiency	Hepatomegaly, Eczema, Elevated circulating aspartate aminotransferase concentration, Splenomegaly...	OMIM:170100
Hyper-Igd Syndrome	Neutrophilia, Skin rash, Increased circulating IgA level, Lymphadenitis, Splenomegaly, Leukocytos...	OMIM:260920
Florid Cemento-Osseous Dysplasia	Abnormal trabecular bone morphology, Multiple bony cystic lesions, Mandibular osteomyelitis, Avas...	ORPHA:83451
Common Variable Immunodeficiency	Elevated hepatic transaminase, Hemolytic anemia, Failure to thrive in infancy, Pneumonia, Autoimm...	ORPHA:1572
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis	Autoimmune hemolytic anemia, Glomerulonephritis, Pneumonia, Plasmacytosis, Increased circulating ...	OMIM:247800
Progressive Osseous Heteroplasia	Osteoarthritis, Limitation of joint mobility, Bone pain, Ectopic ossification in muscle tissue, B...	ORPHA:2762
Lipodystrophy, Familial Partial, Type 2	Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Acute pancreatitis, Reduced subcutane...	OMIM:151660
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency	Sinusitis, Severe B lymphocytopenia, Hepatomegaly, Autoimmune thrombocytopenia, Decreased circula...	OMIM:102700
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency	Elevated hepatic transaminase, Hepatomegaly, Failure to thrive, Hyperlipidemia, Portal fibrosis, ...	ORPHA:369
Beta-Ketothiolase Deficiency	Leukocytosis, Hyperammonemia, Weight loss, Hyperuricemia, Thrombocytosis	ORPHA:134
Hemoglobin E-Beta-Thalassemia Syndrome	Increased circulating ferritin concentration, Abnormal hemoglobin, Anemia	ORPHA:231249
Diffuse Cutaneous Systemic Sclerosis	Arthritis, Narrow foramen obturatorium, Flexion contracture, Osteolysis	ORPHA:220393
Vexas Syndrome	Inflammatory abnormality of the skin, Macrocytic anemia, Neutrophilic infiltration of the skin, C...	OMIM:301054
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of	Hepatomegaly, Necrotizing enterocolitis, Elevated circulating creatine kinase concentration, Card...	OMIM:201475
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency	Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc...	ORPHA:70593
Anemia, Sideroblastic, 2, Pyridoxine-Refractory	Sideroblastic anemia, Increased circulating ferritin concentration, Elevated transferrin saturati...	OMIM:205950
Listeriosis	Stiff neck, Liver abscess, Abnormal cellular immune system morphology, Granulomatosis, Conjunctiv...	ORPHA:533
Wiskott-Aldrich Syndrome 2	Eczema, Reduced natural killer cell activity, Decreased proportion of CD8-positive T cells, Defec...	OMIM:614493
Infantile Liver Failure Syndrome 1	Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Failure to thrive, Hepatic st...	OMIM:615438
Metaphyseal Chondrodysplasia, Schmid Type	Broad proximal phalanges of the hand, Bowing of the legs, Short tubular bones of the hand, Proxim...	ORPHA:174
Methylcobalamin Deficiency Type Cble	Syndactyly, Hypomethioninemia, Macrocytic anemia, Pancytopenia, Postnatal growth retardation, Ost...	ORPHA:2169
Symptomatic Form Of Hfe-Related Hemochromatosis	Arthropathy, Abnormal metacarpophalangeal joint morphology, Joint stiffness, Increased circulatin...	ORPHA:465508
Gracile Syndrome	Increased circulating ferritin concentration, Cholestasis, Cirrhosis, Elevated hepatic iron conce...	ORPHA:53693
Niemann-Pick Disease, Type B	Hepatomegaly, Short stature, Bone-marrow foam cells, Splenomegaly, Thrombocytopenia, Sea-blue his...	OMIM:607616
Schimke Immunoosseous Dysplasia	Osteopenia, Pancytopenia, Small for gestational age, Abnormal immunoglobulin level, Thrombocytope...	OMIM:242900
Wild Type Abeta2M Amyloidosis	Abnormal shoulder morphology, Arthritis, Bone cyst, Arthropathy	ORPHA:85446
Adenocarcinoma Of The Esophagus	Obesity, Lymphadenopathy	ORPHA:99976
Severe Combined Immunodeficiency Due To Dclre1C Deficiency	Failure to thrive, Skin rash, Autoimmunity, Recurrent aphthous stomatitis, Otitis media, Chronic ...	ORPHA:275
Leukocyte Adhesion Deficiency	Sinusitis, Severe periodontitis, Conjunctivitis, Otitis media, Vaginitis, Polycythemia, Short sta...	ORPHA:2968
Hemoglobin H Disease	Hepatomegaly, Hemolytic anemia, Splenomegaly, Reduced alpha/beta synthesis ratio, HbH hemoglobin	OMIM:613978
Hypermethioninemia Due To Adenosine Kinase Deficiency	Elevated circulating creatine kinase concentration, Elevated circulating alanine aminotransferase...	OMIM:614300
Kenny-Caffey Syndrome, Type 1	Delayed closure of the anterior fontanelle, Proportionate short stature, Hypomagnesemia, Delayed ...	OMIM:244460
Cyclic Neutropenia	Sinusitis, Recurrent skin infections, Cyclic neutropenia, Perianal abscess, Peritonitis, Cervical...	ORPHA:2686
Burkitt Lymphoma	Abnormality of the pancreas, Abnormality of the spleen, Abnormal lymph node morphology, Abnormali...	ORPHA:543
Immunodeficiency 61	Decreased circulating IgG4 level, Obesity, Agammaglobulinemia, Arthritis, Decreased circulating t...	OMIM:300310
Occipital Horn Syndrome	Osteopenia, Coxa vara, Humerus varus, Short palm, Large iliac wing, Abnormality of the wrist, Ost...	ORPHA:198
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome	Osteopenia, T lymphocytopenia, Infectious encephalitis, Short stature, Autoimmune thrombocytopeni...	ORPHA:391487
Ulnar Hemimelia	Glenoid fossa hypoplasia, Limited elbow movement, Osteoarthritis, Abnormal calcification of the c...	ORPHA:93320
Encephalopathy Due To Prosaposin Deficiency	Splenomegaly, Hepatomegaly	ORPHA:139406
Myalgia-Eosinophilia Syndrome Associated With Tryptophan	Lymphopenia, Arthritis, Limitation of joint mobility, Eosinophilia	ORPHA:2582
Immunodeficiency By Defective Expression Of Mhc Class Ii	Autoimmune hemolytic anemia, Sinusitis, Skin rash, Autoimmunity, Pancytopenia, Autoimmune thrombo...	ORPHA:572
Liver Failure, Infantile, Transient	Acute hepatic failure, Elevated hepatic transaminase, Hepatomegaly, Microvesicular hepatic steato...	OMIM:613070
Immunodeficiency 11A	Decreased proportion of CD4+CD25+ regulatory T cells, Decreased circulating antibody level, Agamm...	OMIM:615206
Immunodeficiency 27B	Osteomyelitis, Salmonella osteomyelitis	OMIM:615978
Spondyloepiphyseal Dysplasia, Nishimura Type	Delayed epiphyseal ossification, Osteoarthritis, Small hand, Cone-shaped epiphysis, Disproportion...	OMIM:618618
Immunodeficiency 46	Chronic oral candidiasis, Neutropenia, Decreased circulating antibody level, Conjunctivitis, Inte...	OMIM:616740
T-Cell Immunodeficiency With Thymic Aplasia	Lymphopenia, Failure to thrive, Aplasia of the thymus, Recurrent pneumonia, Bronchiectasis, Hepat...	OMIM:242700
Mitochondrial Complex I Deficiency, Nuclear Type 11	Hepatomegaly, Failure to thrive, Macrovesicular hepatic steatosis	OMIM:618234
Neonatal Severe Primary Hyperparathyroidism	Splenomegaly, Hepatomegaly, Short stature	ORPHA:417
Overlap Myositis	Subluxation of the small joints of the hand, Elevated circulating creatine kinase concentration, ...	ORPHA:206572
Neuroleptic Malignant Syndrome	Hyponatremia, Elevated circulating creatine kinase concentration, Leukocytosis, Hyperkalemia, Hyp...	ORPHA:94093
Propionic Acidemia	Pancytopenia, Short stature, Eczema, Thrombocytopenia, Osteoporosis, Hyperammonemia, Hyperglycine...	OMIM:606054
Neuropathy, Hereditary Sensory And Autonomic, Type Ia	Foot osteomyelitis, Osteomyelitis	OMIM:162400
Syndromic Diarrhea	Small for gestational age, Gastritis, Increased mean platelet volume, Short stature, Splenomegaly...	ORPHA:84064
Hemochromatosis, Type 2A	Hepatomegaly, Hypogonadotropic hypogonadism, Splenomegaly, Arthritis, Azoospermia, Infertility, C...	OMIM:602390
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency	Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Elevated circulating creatine ...	ORPHA:264580
Letterer-Siwe Disease	Seborrheic dermatitis, Thrombocytopenia, Jaundice, Hepatosplenomegaly, Neutropenia, Stomatitis, A...	OMIM:246400
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5	Short stature, Elevated circulating creatinine concentration, Gout, Hyperuricemia, Neutropenia, I...	OMIM:617056
Hereditary Sensory And Autonomic Neuropathy Type 1	Limb pain, Pathologic fracture, Osteomyelitis, Neuropathic arthropathy	ORPHA:36386
Cryptococcosis	Osteomyelitis, Lymphoid leukemia, Pneumonia, Peritonitis, Osteolysis, Prostatitis	ORPHA:1546
Microsporidiosis	Myositis, Sinusitis, Cholangitis, Lymphadenitis, Abnormality of the spleen, Nephritis, Infectious...	ORPHA:2552
Menkes Disease	Bowing of the long bones, Osteomyelitis, Tarsal synostosis, Recurrent fractures, Osteoporosis, Jo...	ORPHA:565
Familial Partial Lipodystrophy, Dunnigan Type	Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Hypertriglyceridemia, Lipodystrophy, ...	ORPHA:2348
Immunodeficiency 40	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating...	OMIM:616433
Immunodeficiency 81	Decreased proportion of CD4-positive T cells, Recurrent cutaneous abscess formation, Autoimmune h...	OMIM:619374
Lethal Congenital Contracture Syndrome Type 1	Short stature, Recurrent fractures, Limitation of joint mobility, Abnormality of the elbow, Slend...	ORPHA:1486
Congenital Generalized Lipodystrophy	Hepatomegaly, Hypertriglyceridemia, Lipodystrophy, Adipose tissue loss, Cirrhosis, Hypercholester...	ORPHA:528
Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies	Short stature, Microcytic anemia, Recurrent pneumonia, Hepatosplenomegaly, Lymphadenopathy, Decre...	OMIM:619750
Immunoglobulin A Deficiency 2	Autoimmunity	OMIM:609529
Granulomatous Disease, Chronic, Autosomal Recessive, 1	Recurrent bacterial skin infections, Hepatomegaly, Osteomyelitis, Liver abscess, Discoid lupus ra...	OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2	Recurrent bacterial skin infections, Hepatomegaly, Osteomyelitis, Liver abscess, Discoid lupus ra...	OMIM:233710
Diamond-Blackfan Anemia 1	Failure to thrive, Macrocytic anemia, Short stature, Delayed cranial suture closure, Absent thumb...	OMIM:105650
Progressive Familial Intrahepatic Cholestasis	Hepatomegaly, Short stature, Splenomegaly, Jaundice, Cholestasis, Failure to thrive	ORPHA:172
Multiple Epiphyseal Dysplasia, Beighton Type	Osteoarthritis, Coxa vara, Double-layered patella, Abnormal hip joint morphology, Arthralgia of t...	ORPHA:166011
Sweet Syndrome	Acute myeloid leukemia, Predominantly dermal neutrophilic infiltrate, Myositis, Increased circula...	ORPHA:3243
Spondyloepimetaphyseal Dysplasia, Handigodu Type	Hip contracture, Abnormality of the knee, Broad radial metaphysis, Short stature, Protrusio aceta...	ORPHA:99642
Diamond-Blackfan Anemia	Acute myeloid leukemia, Small for gestational age, Short stature, Pure red cell aplasia, Absent t...	ORPHA:124
Netherton Syndrome	Skin rash, Eczema, Short stature, Increased circulating IgE level, Decreased circulating antibody...	ORPHA:634
Rhizomelic Chondrodysplasia Punctata, Type 3	Short humerus, Short femur, Rhizomelia, Epiphyseal stippling, Disproportionate short-limb short s...	OMIM:600121
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome	Abnormal hemoglobin, Splenomegaly, Thrombocytopenia, Abnormal platelet function, Anemia	ORPHA:231393
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis	Mild postnatal growth retardation, Abnormal metatarsal morphology, Knee osteoarthritis, Flexion c...	ORPHA:85408
T-Cell Immunodeficiency With Thymic Aplasia	Failure to thrive, Sinusitis, Aplasia of the thymus, Pneumonia, Autoimmunity, Decreased proportio...	ORPHA:83471
Multiple Epiphyseal Dysplasia Type 4	Accelerated skeletal maturation, Abnormal hand morphology, Metaphyseal widening, Flexion contract...	ORPHA:93307
Cernunnos-Xlf Deficiency	Thrombocytopenia, Decreased circulating antibody level, Growth delay, T lymphocytopenia, B lympho...	ORPHA:169079
Hypophosphatasia, Infantile	Elevated plasma pyrophosphate, Hypercalcemia, Craniosynostosis, Bowing of the legs, Micromelia, I...	OMIM:241500
Interstitial Lung And Liver Disease	Clubbing, Intraalveolar phospholipid accumulation, Hyperammonemia, Thrombocytosis, Failure to thr...	OMIM:615486
Spondylometaphyseal Dysplasia, Axial	Rhizomelia, Short stature, Splenomegaly, Recurrent pneumonia, Disproportionate short-trunk short ...	OMIM:602271
Porphyria Cutanea Tarda	Elevated hepatic transaminase, Viral hepatitis, Recurrent bacterial skin infections, Decreased ci...	ORPHA:101330
Peroxisome Biogenesis Disorder 12A (Zellweger)	Short stature, Delayed closure of the anterior fontanelle, Wide anterior fontanel, Growth delay, ...	OMIM:614886
Anemia, Congenital Dyserythropoietic, Type Ib	Hepatomegaly, Reticulocytosis, Short stature, Anemia of inadequate production, Anisocytosis, Sple...	OMIM:615631
Follicular Lymphoma	Abnormal peritoneum morphology, Splenomegaly, Mediastinal lymphadenopathy, Weight loss, Lymphaden...	ORPHA:545
Immunodeficiency 47	Hepatic fibrosis, Hepatic steatosis, Accessory spleen, Hepatomegaly, Decreased circulating copper...	OMIM:300972
Erythroleukemia, Familial, Susceptibility To	Acute myeloid leukemia, Hepatomegaly, Splenomegaly, Anemia, Erythroid hyperplasia, Leukemia, Thro...	OMIM:133180
Proteus Syndrome	Splenomegaly, Mandibular hyperostosis, Calvarial hyperostosis, Facial hyperostosis, Thin bony cortex	OMIM:176920
Pparg-Related Familial Partial Lipodystrophy	Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Hypertriglyceridemia, Lipoatrophy, Sp...	ORPHA:79083
Asplenia, Isolated Congenital	Asplenia, Thrombocytosis, Howell-Jolly bodies	OMIM:271400
Hepatoportal Sclerosis	Elevated hepatic transaminase, Anticardiolipin IgG antibody positivity, Portal hypertension, Prur...	ORPHA:64743
Granulomatous Disease, Chronic, Autosomal Recessive, 4	Recurrent bacterial skin infections, Hepatomegaly, Osteomyelitis, Liver abscess, Discoid lupus ra...	OMIM:233690
Hemoglobin D Disease	Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A...	ORPHA:90039
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections	Eczema, Eosinophilic infiltration of the esophagus, Eosinophilia, Recurrent pneumonia, Increased ...	OMIM:243700
Hutchinson-Gilford Progeria Syndrome	Growth delay, Osteolysis, Generalized osteoporosis	OMIM:176670
Dent Disease	Enlarged epiphyses, Bulging epiphyses, Thin bony cortex, Renal hypophosphatemia, Elevated circula...	ORPHA:1652
Autosomal Recessive Kenny-Caffey Syndrome	Stenosis of the medullary cavity of the long bones, Delayed cranial suture closure, Postnatal gro...	ORPHA:93324
Neuropathy, Hereditary Sensory, Type Ie	Osteomyelitis	OMIM:614116
Scedosporiosis	Pericarditis, Osteomyelitis, Arthralgia/arthritis, Sinusitis, Pneumonia, Endocarditis, Septic art...	ORPHA:449280
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Leptodactylic Type	Abnormal metatarsal morphology, Delayed epiphyseal ossification, Generalized joint laxity, Multip...	ORPHA:93360
Mandibuloacral Dysplasia With Type A Lipodystrophy	Calcinosis, Osteopenia, Down-sloping shoulders, Coxa valga, Joint stiffness, Postnatal growth ret...	OMIM:248370
Immunodeficiency 55	Absent natural killer cells, Recurrent skin infections, Eczema, Short stature, Postnatal growth r...	OMIM:617827
Galactosemia Iii	Splenomegaly, Hepatomegaly, Jaundice, Failure to thrive	OMIM:230350
Cholestasis-Lymphedema Syndrome	Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Jaundice, Cirrhosis, Erysipelas, Neona...	OMIM:214900
Corticosteroid-Sensitive Aseptic Abscess Syndrome	Elevated hepatic transaminase, Brain abscess, Liver abscess, Neutrophilia, Abnormality of the pan...	ORPHA:54251
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency	Impaired lymphocyte transformation with phytohemagglutinin, Lymphopenia, Absent natural killer ce...	ORPHA:35078
Dysspondyloenchondromatosis	Joint dislocation, Enlarged joints, Short stature, Osteoarthritis, Generalized joint laxity, Dela...	ORPHA:85198
Agammaglobulinemia 3, Autosomal Recessive	Abnormal T cell morphology, Agammaglobulinemia, Absent isohemagglutinin level, Absent circulating...	OMIM:613501
Infantile Liver Failure Syndrome 3	Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Splenomegaly, Jaundice, Chole...	OMIM:618641
Morgagni-Stewart-Morel Syndrome	Acne, Osteoarthritis, Osteoporosis, Obesity, Hyperostosis frontalis interna, Hyperuricemia, Hyper...	ORPHA:77296
Spondylometaphyseal Dysplasia, Kozlowski Type	Short tubular bones of the hand, Delayed epiphyseal ossification, Metaphyseal widening, Short met...	ORPHA:93314
Pediatric Systemic Lupus Erythematosus	Lymphopenia, Myositis, Antiphospholipid antibody positivity, Skin rash, Discoid lupus rash, Antin...	ORPHA:93552
Hypertrichosis, Congenital Anterior Cervical, With Peripheral Sensory And Motor Neuropathy	Osteomyelitis	OMIM:239840
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections	Lymphopenia, Recurrent skin infections, Recurrent pneumonia, Increased circulating IgE level, Ato...	OMIM:619752
Combined Immunodeficiency Due To Partial Rag1 Deficiency	Autoimmune hemolytic anemia, Autoimmunity, Splenomegaly, Neutropenia in presence of anti-neutropi...	ORPHA:231154
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies	Osteopenia, Epiphyseal dysplasia, Metaphyseal dysplasia, Hypercalcemia, Craniosynostosis, Postnat...	OMIM:614732
Neutrophil Immunodeficiency Syndrome	Leukocytosis, Abnormality of neutrophil physiology	ORPHA:183707
Immunodeficiency, Common Variable, 6	Hepatomegaly, Glomerulonephritis, Autoimmune thrombocytopenia, Chronic decreased circulating tota...	OMIM:613496
Sea-Blue Histiocyte Disease	Elevated circulating aspartate aminotransferase concentration, Splenomegaly, Elevated circulating...	OMIM:269600
Zygomycosis	Brain abscess, Fasciitis, Sinusitis, Pericarditis, Gastritis, Pustule, Myocarditis, Peritonitis, ...	ORPHA:73263
Dysbetalipoproteinemia	Hepatomegaly, Acute pancreatitis, Hypertriglyceridemia, Decreased HDL cholesterol concentration, ...	ORPHA:412
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type	Gastroesophageal reflux, Decreased liver function, Dysphagia, Failure to thrive, Hepatic steatosis	ORPHA:70472
Congenital Disorder Of Glycosylation, Type Ik	Splenomegaly, Hepatomegaly, Hypogonadism, Intrauterine growth retardation	OMIM:608540
Niemann-Pick Disease, Type A	Hepatomegaly, Failure to thrive, Short stature, Elevated circulating aspartate aminotransferase c...	OMIM:257200
Hemophagocytic Lymphohistiocytosis, Familial, 2	Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Skin rash, Reduced natural killer cell...	OMIM:603553
Idiopathic Non-Lupus Full-House Nephropathy	Skin rash, Glomerulonephritis, Elevated circulating creatinine concentration, Synovitis, Arthriti...	ORPHA:567544
Refractory Celiac Disease	Normocytic anemia, Inflammatory abnormality of the skin, Macrocytic anemia, Microcytic anemia, Hy...	ORPHA:398063
Chronic Myeloid Leukemia	Splenomegaly, Leukocytosis, Abnormal granulocyte morphology, Myeloproliferative disorder, Thrombo...	ORPHA:521
Chromomycosis	Keratitis, Ankylosis, Keratoconjunctivitis sicca, Osteolysis	ORPHA:182
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism	Splenomegaly, Jaundice, Nonspherocytic hemolytic anemia	OMIM:206400
Epiphyseal Dysplasia, Multiple, 6	Abnormality of the knee, Flat distal femoral epiphysis, Flat capital femoral epiphysis, Osteoarth...	OMIM:614135
Melnick-Needles Syndrome	Craniofacial hyperostosis, Bowing of the long bones, Short stature, Coxa valga, Hip dislocation, ...	ORPHA:2484
Autoerythrocyte Sensitization Syndrome	Superficial dermal perivascular inflammatory infiltrate, Impaired platelet adhesion, Autoimmune t...	ORPHA:324636
Familial Dysautonomia	Hyponatremia, Recurrent fractures, Osteolysis, Growth delay, Avascular necrosis	ORPHA:1764
Immunodeficiency 37	Decreased proportion of central memory CD4-positive, alpha-beta T cells, Colitis, Infectious ence...	OMIM:616098
Hemochromatosis, Type 2B	Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Secondary amenorrhea, Hepatic fibrosis...	OMIM:613313
Chime Syndrome	Aplastic clavicle, Aplasia/Hypoplasia of the phalanges of the hand, Hip dislocation, Osteolysis, ...	ORPHA:3474
Hyperbilirubinemia, Shunt, Primary	Hepatomegaly, Reticulocytosis, Anemia of inadequate production, Splenomegaly, Jaundice, Erythroid...	OMIM:237800
Bile Acid Synthesis Defect, Congenital, 1	Elevated hepatic transaminase, Hepatomegaly, Giant cell hepatitis, Failure to thrive, Conjugated ...	OMIM:607765
Congenital Ichthyosiform Erythroderma	Short stature, Keratitis, Pruritus, Erythroderma, Failure to thrive	ORPHA:79394
Neonatal Lupus Erythematosus	Elevated hepatic transaminase, Hepatomegaly, Hemolytic anemia, Pancytopenia, Skin rash, Maculopap...	ORPHA:398124
Aregenerative Anemia	Pancytopenia, Erythroid hypoplasia, Reticulocytopenia, Lymphadenopathy, Bone marrow hypocellulari...	ORPHA:101096
Combined Oxidative Phosphorylation Deficiency 19	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Microvesicular hepat...	OMIM:615595
Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome	Hip contracture, Calcification of the auricular cartilage, Short stature, Bone cyst, Flexion cont...	ORPHA:3042
Beta-Thalassemia	Abnormal hemoglobin, Microcytic anemia, Thrombocytopenia, Splenomegaly, Hepatitis, Reduced bone m...	ORPHA:848
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form	Elevated hepatic transaminase, Hepatomegaly, Elevated circulating creatine kinase concentration, ...	ORPHA:228305
Amyloidosis, Familial Visceral	Splenomegaly, Hepatomegaly, Skin rash, Cholestasis	OMIM:105200
Osteopetrosis, Autosomal Recessive 9	Increased bone mineral density, Cortical sclerosis, Postnatal growth retardation, Elevated circul...	OMIM:620366
Lipodystrophy, Congenital Generalized, Type 4	Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Lipodystrophy, Elevated circul...	OMIM:613327
Neuropathy, Hereditary Sensory And Autonomic, Type V	Arthropathy, Osteomyelitis, Recurrent fractures, Osteoarthritis, Painless fractures due to injury...	OMIM:608654
Spondylometaphyseal Dysplasia, Pagnamenta Type	Rhizomelia, Delayed skeletal maturation, Femoral bowing, Short 5th metacarpal, Wormian bones, Sho...	OMIM:619638
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia	Splenomegaly, Leukocytosis, Decreased circulating antibody level	OMIM:618042
Chronic Actinic Dermatitis	Late onset atopic dermatitis, Eczema, Allergic rhinitis, Pruritus, Erythroderma	ORPHA:330064
Mandibuloacral Dysplasia With Type B Lipodystrophy	Hyperlipidemia, Flexion contracture, Growth delay, Progressive clavicular acroosteolysis, Osteoly...	OMIM:608612
Sitosterolemia 1	Reticulocytosis, Hyperapobetalipoproteinemia, Elevated circulating sitosterol concentration, Thro...	OMIM:210250
Multicentric Osteolysis, Nodulosis, And Arthropathy	Osteopenia, Metaphyseal widening, Metatarsal osteolysis, Camptodactyly of toe, Wrist flexion cont...	OMIM:259600
Aicardi-Goutieres Syndrome 2	Lymphocytosis	OMIM:610181
Bile Acid Synthesis Defect, Congenital, 3	Hepatomegaly, Failure to thrive, Elevated circulating aspartate aminotransferase concentration, H...	OMIM:613812
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency	Small for gestational age, Short stature, Postnatal growth retardation, Delayed skeletal maturati...	ORPHA:73272
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis	Hepatomegaly, Skin rash, Allergic rhinitis, Anemia of inadequate production, Splenomegaly, Jaundi...	OMIM:612714
Panniculitis-Induced Localized Lipodystrophy	Antinuclear antibody positivity, Inflammatory abnormality of the skin, Abnormal immunoglobulin level	ORPHA:90159
Osteopetrosis, Autosomal Recessive 5	Increased bone mineral density, Extramedullary hematopoiesis, Pancytopenia, Short stature, Thromb...	OMIM:259720
Dyskeratosis Congenita, Autosomal Recessive 5	Postnatal growth retardation, Decreased circulating antibody level, Leukopenia, Colitis, Bone mar...	OMIM:615190
Graft Versus Host Disease	Fasciitis, Myositis, Maculopapular exanthema, Pneumonia, Inflammatory abnormality of the skin, Li...	ORPHA:39812
Kikuchi-Fujimoto Disease	Elevated hepatic transaminase, Hepatomegaly, Generalized lymphadenopathy, Skin rash, Pustule, Myo...	ORPHA:50918
Hurler-Scheie Syndrome	Hepatomegaly, Short stature, Abnormality of the tonsils, Splenomegaly, Rhinitis	ORPHA:93476
Otospondylomegaepiphyseal Dysplasia	Epiphyseal dysplasia, Short metacarpal, Abnormal pelvis bone morphology, Sandal gap, Abnormally o...	ORPHA:1427
Glycogen Storage Disease Vii	Hemolytic anemia, Reticulocytosis, Elevated circulating creatine kinase concentration, Reduced er...	OMIM:232800
Angel-Shaped Phalango-Epiphyseal Dysplasia	Short stature, Delayed skeletal maturation, Hip osteoarthritis, Joint hyperflexibility, Hip dyspl...	ORPHA:63442
Acquired Generalized Lipodystrophy	Hepatomegaly, Acute pancreatitis, Hypertriglyceridemia, Generalized lipodystrophy, Panniculitis, ...	ORPHA:79086
Transcobalamin Deficiency	Lymphopenia, Pancytopenia, Decreased circulating antibody level, Decreased circulating total IgM,...	ORPHA:859
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease	Acute myeloid leukemia, Pancytopenia, Hypertriglyceridemia, Elevated circulating C-reactive prote...	ORPHA:158057
Bile Acid Malabsorption, Primary, 2	Elevated circulating aspartate aminotransferase concentration, Elevated circulating alanine amino...	OMIM:619481
Psoriasis 14, Pustular	Psoriasiform dermatitis, Neutrophilia, Cholangitis, Elevated circulating C-reactive protein conce...	OMIM:614204
Biotinidase Deficiency	Hepatomegaly, Skin rash, Recurrent skin infections, Seborrheic dermatitis, Splenomegaly, Conjunct...	OMIM:253260
Rajab Interstitial Lung Disease With Brain Calcifications 2	Elevated hepatic transaminase, Hypertriglyceridemia, Hepatosplenomegaly, Hypoalbuminemia, Hepatic...	OMIM:619013
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency	Acute hepatic failure, Elevated hepatic transaminase, Abnormal circulating acylcarnitine concentr...	ORPHA:71212
Congenital Disorder Of Glycosylation, Type Iic	Neutrophilia, Short stature, Pneumonia, Short foot, Periodontitis, Reduction of neutrophil motili...	OMIM:266265
Wolcott-Rallison Syndrome	Hyponatremia, Metaphyseal dysplasia, Short stature, Neutropenia, Hyperammonemia, Growth delay, Ir...	ORPHA:1667
Beta-Thalassemia, Dominant Inclusion Body Type	Hepatomegaly, Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, Ery...	OMIM:603902
Aicardi-Goutieres Syndrome 4	Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Splenomegaly, Hepatosplenomegaly, Intr...	OMIM:610333
Hemophagocytic Lymphohistiocytosis, Familial, 1	Hyponatremia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Increased VLDL chole...	OMIM:267700
Mitochondrial Neurogastrointestinal Encephalomyopathy	Elevated hepatic transaminase, Cachexia, Diarrhea, Dysphagia, Weight loss, Gastroesophageal reflu...	ORPHA:298
Pityriasis Rubra Pilaris	Pustule, Pruritus, Eczema, Erythroderma	ORPHA:2897
Multiple Epiphyseal Dysplasia Type 5	Osteoarthritis of the small joints of the hand, Abnormal acetabulum morphology, Abnormal upper li...	ORPHA:93311
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss	Elevated circulating aspartate aminotransferase concentration, Pruritus, Splenomegaly, Jaundice, ...	OMIM:619658
American Trypanosomiasis	Hepatomegaly, Skin rash, Myocarditis, Splenomegaly, Autoimmune antibody positivity, Lymphadenopat...	ORPHA:3386
Hypochondroplasia	Bowing of the long bones, Brachydactyly, Micromelia, Short toe, Osteoarthritis, Abnormality of th...	ORPHA:429
Developmental Dysplasia Of The Hip 2	Hip osteoarthritis, Arthritis, Hip dysplasia, Coxa valga	OMIM:615612
Chikungunya	Maculopapular exanthema, Skin rash, Joint stiffness, Erythema nodosum, Knee pain, Periostitis, Cr...	ORPHA:324625
Maternal Uniparental Disomy Of Chromosome 1	Hepatomegaly, Pancytopenia, Short stature, Growth delay, Failure to thrive, Panhypogammaglobulinemia	ORPHA:251009
Granulomatous Disease, Chronic, X-Linked	Recurrent bacterial skin infections, Osteomyelitis, Liver abscess, Discoid lupus rash, Lymphadeni...	OMIM:306400
Osteopetrosis, Autosomal Dominant 2	Recurrent fractures, Mandibular osteomyelitis, Fractures of the long bones, Generalized osteoscle...	OMIM:166600
Systemic Mastocytosis With Associated Hematologic Neoplasm	Normocytic anemia, Hepatomegaly, Acute myeloid leukemia, Neutrophilia, Eosinophilia, Pruritus, Sp...	ORPHA:98849
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome	Flexion contracture of finger, Osteomyelitis, Camptodactyly	ORPHA:88628
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency	Reduced bone mineral density, Agammaglobulinemia, Long fibula, Abnormal metaphysis morphology, Ly...	ORPHA:935
Reactive Arthritis	Pericarditis, Osteomyelitis, Joint stiffness, Pustule, Cartilage destruction, Enthesitis, Weight ...	ORPHA:29207
Deafness, Autosomal Dominant 34, With Or Without Inflammation	Arthritis, Conjunctivitis, Lymphadenopathy	OMIM:617772
Macrocephaly/Autism Syndrome	Hepatomegaly, Large for gestational age, Splenomegaly, Obesity, Decreased circulating antibody le...	OMIM:605309
Hemophagocytic Lymphohistiocytosis, Familial, 3	Hypertriglyceridemia, Reduced natural killer cell activity, Hepatosplenomegaly, Hemophagocytosis,...	OMIM:608898
Dpm1-Cdg	Elevated hepatic transaminase, Hepatomegaly, Elevated circulating creatine kinase concentration, ...	ORPHA:79322
Mirage Syndrome	Hyponatremia, Short stature, Rocker bottom foot, Radial club hand, Thrombocytopenia, Hyperkalemia...	OMIM:617053
Acute Generalized Exanthematous Pustulosis	Elevated hepatic transaminase, Predominantly dermal neutrophilic infiltrate, Neutrophilia, Eosino...	ORPHA:293173
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of	Elevated hepatic transaminase, Hepatomegaly, Hepatic steatosis, Vomiting	OMIM:201450
Mucopolysaccharidosis, Type Ix	Hyperextensibility at elbow, Acetabular erosions, Short stature, Periarticular soft-tissue mass, ...	OMIM:601492
Chronic Thromboembolic Pulmonary Hypertension	Osteomyelitis, Elevated circulating C-reactive protein concentration, Obesity, Inflammation of th...	ORPHA:70591
Tyrosinemia Type 1	Acute hepatic failure, Hepatomegaly, Hepatocellular carcinoma, Splenomegaly	ORPHA:882
Farber Disease	Abnormality of the knee, Short stature, Thrombocytopenia, Short toe, Flexion contracture, Osteopo...	ORPHA:333
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia	Failure to thrive, Skin rash, Antinuclear antibody positivity, Cervical lymphadenopathy, Recurren...	OMIM:617718
Macrocephaly-Intellectual Disability-Autism Syndrome	Multiple lipomas, Hepatic steatosis	ORPHA:210548
Cartilage-Hair Hypoplasia	Micromelia, Accelerated skeletal maturation, Metaphyseal chondrodysplasia, Tibial bowing, Hypocal...	ORPHA:175
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige	Psoriasiform dermatitis, Recurrent skin infections, Eosinophilic infiltration of the esophagus, I...	OMIM:615508
Bardet-Biedl Syndrome 19	Hepatic steatosis, Obesity	OMIM:615996
Spondyloepimetaphyseal Dysplasia, Sponastrime Type	Decreased circulating IgG level, Osteopenia, Brachydactyly, Rhizomelia, Flat capital femoral epip...	OMIM:271510
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive	Elevated hepatic transaminase, Short stature, Conjunctivitis, Cirrhosis, Erythroderma, Failure to...	OMIM:242150
Erythroderma, Lethal Congenital	Congenital exfoliative erythroderma, Failure to thrive	OMIM:227090
Lesch-Nyhan Syndrome	Anemia, Hyperuricemia, Gout	ORPHA:510
Familial Chylomicronemia Syndrome	Acute pancreatitis, Hypertriglyceridemia, Perianal abscess, Jaundice, Hyperlipidemia, Hepatosplen...	ORPHA:444490
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)	Acute hepatic failure, Microvesicular hepatic steatosis, Osteomyelitis leading to amputation due ...	OMIM:256810
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy	Small for gestational age, Elevated circulating aspartate aminotransferase concentration, Conjuga...	OMIM:617093
Spondyloepimetaphyseal Dysplasia, Shohat Type	Joint laxity, Severe short stature, Bowing of the legs, Delayed epiphyseal ossification, Metaphys...	ORPHA:93352
Mutilating Palmoplantar Keratoderma With Periorificial Keratotic Plaques	Ankylosis, Osteolysis	ORPHA:659
Congenital Enterovirus Infection	Abnormal macrophage morphology, Skin rash, Myocarditis, Leukocytosis, Thrombocytopenia, Hepatitis...	ORPHA:292
Cholestasis, Progressive Familial Intrahepatic, 3	Elevated hepatic transaminase, Hepatomegaly, Intrahepatic cholestasis, Jaundice, Splenomegaly, Po...	OMIM:602347
Cold Agglutinin Disease	Hepatomegaly, Hemolytic anemia, Autoimmunity, Splenomegaly, Lymphadenopathy	ORPHA:56425
Beukes Hip Dysplasia	Flat capital femoral epiphysis, Avascular necrosis of the capital femoral epiphysis, Osteoarthrit...	OMIM:142669
Hypocomplementemic Urticarial Vasculitis	Episcleritis, Hepatomegaly, Skin rash, Autoimmunity, Pruritus, Splenomegaly, Uveitis, Lymphadenop...	ORPHA:36412
Shwachman-Diamond Syndrome 1	Acute myeloid leukemia, Pancytopenia, Small for gestational age, Short stature, Metaphyseal scler...	OMIM:260400
Sea-Blue Histiocytosis	Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Sea-blue histiocytosis, Blepharitis, Thr...	ORPHA:158029
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic	Hepatomegaly, Elevated circulating alanine aminotransferase concentration, Low plasma citrulline,...	OMIM:261680
Gaucher Disease, Type Iii	Hepatomegaly, Pancytopenia, Short stature, Splenomegaly, Decreased body weight, Thrombocytopenia	OMIM:231000
Hemolytic Disease Of Fetus And Newborn, Rh-Induced	Splenomegaly, Hepatomegaly, Fetal ascites	OMIM:619462
Congenital Rubella Syndrome	Hepatomegaly, Skin rash, Short stature, Splenomegaly, Jaundice, Thrombocytopenia, Intrauterine gr...	ORPHA:290
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome	Clinodactyly of the 5th finger, Lymphopenia, Hypoproteinemia, Decreased circulating antibody level	ORPHA:1116
Multiple Osteochondromas	Deformed radius, Abnormal hand morphology, Abnormal tibia morphology, Metaphyseal widening, Abnor...	ORPHA:321
Proteasome-Associated Autoinflammatory Syndrome 4	Hepatomegaly, Myositis, Autoimmune hemolytic anemia, Splenomegaly, Lymphadenopathy, Panniculitis	OMIM:619183
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-	Hepatomegaly, Splenomegaly, Thrombocytopenia, Neutropenia, Failure to thrive, Pancreatitis, Anemia	ORPHA:79312
Cholestasis, Progressive Familial Intrahepatic, 2	Hepatomegaly, Short stature, Pruritus, Intrahepatic cholestasis, Splenomegaly, Intermittent jaund...	OMIM:601847
Roifman-Chitayat Syndrome	Osteopenia, Short metacarpal, Pneumonia, Short metatarsal, Cone-shaped epiphysis, Arthritis	OMIM:613328
Laron Syndrome	Severe short stature, Short toe, Osteoarthritis, Abnormality of the elbow, Delayed skeletal matur...	ORPHA:633
Nail-Patella Syndrome	Abnormal tibia morphology, Flexion contracture, Abnormal femur morphology, Patellar hypoplasia, R...	ORPHA:2614
Autosomal Recessive Primary Microcephaly	Growth delay, Abnormal cortical bone morphology, Short stature	ORPHA:2512
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome	Limited elbow movement, T lymphocytopenia, Narrow greater sciatic notch, Decreased circulating Ig...	ORPHA:508533
Immunodeficiency 96	Eczema, Increased proportion of gamma-delta T cells, Growth delay, Decreased circulating total Ig...	OMIM:619774
Bone Marrow Failure Syndrome 6	Osteopenia, Persistence of hemoglobin F, Increased mean corpuscular volume, Bone marrow hypocellu...	OMIM:618849
Bile Acid Synthesis Defect, Congenital, 2	Elevated hepatic transaminase, Hepatomegaly, Failure to thrive, Intrahepatic cholestasis, Jaundic...	OMIM:235555
Immunodeficiency 16	Splenomegaly, Pancytopenia, Coombs-positive hemolytic anemia	OMIM:615593
Kniest Dysplasia	Hip contracture, Enlarged joints, Rhizomelia, Dumbbell-shaped long bone, Tracheomalacia, Abnormal...	OMIM:156550
Complement Component C1R/C1S Deficiency	Discoid lupus rash, Arthritis, Nephritis	OMIM:216950
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 2, Autosomal Dominant	Short stature, Eczema, Postnatal growth retardation, Increased circulating IgE level, Thyroiditis...	OMIM:618985
Ichthyosis With Confetti	Pruritus, Decreased body weight, Short stature, Erythroderma	OMIM:609165
Congenital Disorder Of Glycosylation, Type It	Elevated hepatic transaminase, Hepatomegaly, Elevated circulating aspartate aminotransferase conc...	OMIM:614921
Lysinuric Protein Intolerance	Hypolysinemia, Recurrent fractures, Short stature, Increased circulating ferritin concentration, ...	OMIM:222700
Griscelli Syndrome Type 2	Hepatomegaly, Pancytopenia, Splenomegaly, Jaundice, Lymphadenopathy, Hemophagocytosis, Neutropenia	ORPHA:79477
Schimke Immuno-Osseous Dysplasia	Impaired T cell function, Neutropenia, Short stature, Minimal change glomerulonephritis, Decrease...	ORPHA:1830
Combined Immunodeficiency Due To Crac Channel Dysfunction	Hepatomegaly, Hemolytic anemia, Autoimmunity, Pneumonia, Splenomegaly, Lymphadenopathy, Chronic o...	ORPHA:169090
Mosaic Variegated Aneuploidy Syndrome	Short stature, Osteolysis, Acute lymphoblastic leukemia, Growth delay, Clinodactyly of the 5th fi...	ORPHA:1052
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy	Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Reduced subcutaneous adipose tissue, ...	ORPHA:280365
Muckle-Wells Syndrome	Episcleritis, Hepatomegaly, Skin rash, Short stature, Splenomegaly, Uveitis, Arthritis, Conjuncti...	ORPHA:575
Autoinflammation, Immune Dysregulation, And Eosinophilia	Eosinophilic liver infiltration, Short stature, Eosinophilia, Atopic dermatitis, Hepatosplenomega...	OMIM:618999
Cogan Syndrome	Episcleritis, Keratitis, Leukocytosis, Uveitis, Scleritis, Conjunctivitis, Thrombocytosis, Inflam...	ORPHA:1467
Gm1-Gangliosidosis, Type Ii	Joint stiffness, Coxa valga, Splenomegaly, Sea-blue histiocytosis, Limb undergrowth, Failure to t...	OMIM:230600
Immunodeficiency, Common Variable, 12, With Autoimmunity	Atrophic gastritis, Autoimmune hemolytic anemia, Recurrent skin infections, Recurrent pneumonia, ...	OMIM:616576
Catastrophic Antiphospholipid Syndrome	Myocarditis, Arthritis, Coombs-positive hemolytic anemia, Microangiopathic hemolytic anemia, Avas...	ORPHA:464343
Alpha-1-Antitrypsin Deficiency	Elevated hepatic transaminase, Splenomegaly, Bronchiectasis, Cirrhosis, Hepatocellular carcinoma	OMIM:613490
Alstrom Syndrome	Elevated hepatic transaminase, Hepatomegaly, Decreased HDL cholesterol concentration, Chronic act...	OMIM:203800
Anemia, Hypochromic Microcytic, With Iron Overload 2	Hepatomegaly, Splenomegaly, Growth delay, Decreased mean corpuscular volume, Azoospermia, Hypogon...	OMIM:615234
Hyperimmunoglobulinemia D With Periodic Fever	Hepatomegaly, Increased circulating IgA level, Peritonitis, Lymphadenopathy, Growth delay, Arthri...	ORPHA:343
Oligoarticular Juvenile Idiopathic Arthritis	Knee osteoarthritis, Oligoarthritis, Uveitis, Increased circulating interferon-gamma concentratio...	ORPHA:85410
Neuropathy, Hereditary Sensory And Autonomic, Type Ic	Autoamputation of digits, Osteomyelitis	OMIM:613640
Cystic Echinococcosis	Abnormal peritoneum morphology, Hepatomegaly, Elevated hepatic transaminase, Hepatic cysts, Eosin...	ORPHA:400
Dysplasia Epiphysealis Hemimelica	Abnormal femoral neck morphology, Tarsal synostosis, Recurrent fractures, Joint stiffness, Accele...	ORPHA:1822
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Elevated circulating creatine kinase concentration, Cardiomegaly, Increased muscle lipid content,...	OMIM:608836
Hyperlipoproteinemia, Type Id	Hyperlipoproteinemia, Hepatomegaly, Decreased HDL cholesterol concentration, Hypertriglyceridemia...	OMIM:615947
Immunodeficiency 43	Hypoproteinemia, Hypoplasia of the ulna, Radial bowing, Decreased specific antibody response to p...	OMIM:241600
Kaposi Sarcoma	Generalized lymphadenopathy, Skin rash, Abnormality of the spleen, Weight loss, Abnormality of th...	ORPHA:33276
Anemia, Congenital Dyserythropoietic, Type Iv	Decreased hemoglobin concentration, Circulating nucleated red blood cells, Anisocytosis, Erythroi...	OMIM:613673
Infantile Sialic Acid Storage Disease	Hepatomegaly, Failure to thrive, Cardiomegaly, Splenomegaly, Vacuolated lymphocytes, Ascites	OMIM:269920
Pseudomyxoma Peritonei	Abnormal peritoneum morphology, Weight loss, Lymphadenopathy, Inflammation of the large intestine...	ORPHA:26790
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency	Reticulocytosis, Anisocytosis, Abnormal erythrocyte morphology, Increased circulating ferritin co...	ORPHA:766
Desmoplastic Small Round Cell Tumor	Abnormal peritoneum morphology, Hepatomegaly, Neoplasm of the pancreas, Cachexia, Testicular neop...	ORPHA:83469
Systemic Lupus Erythematosus	Hemolytic anemia, Pericarditis, Lupus nephritis, Arthritis, Leukopenia, Malar rash, Nephritis, Th...	OMIM:152700
Immunodeficiency 32A	Lymphadenitis, Granuloma, Lymphadenopathy	OMIM:614893
Lymphangiectasia, Intestinal	Lymphopenia, Stillbirth, Decreased circulating IgG level, Neonatal hypoproteinemia	OMIM:152800
Immunodeficiency 44	Decreased circulating total IgM, Lymphopenia, Decreased circulating IgA level, Abnormal circulati...	OMIM:616636
Gray Platelet Syndrome	Splenomegaly, Thrombocytopenia, Abnormality of the menstrual cycle	ORPHA:721
Osteootohepatoenteric Syndrome	Microvesicular hepatic steatosis, Secretory diarrhea, Cholestasis, Weight loss, Hypokalemia, Port...	OMIM:619377
Chediak-Higashi Syndrome	Impaired neutrophil bactericidal activity, Recurrent bacterial skin infections, Hepatomegaly, Abn...	OMIM:214500
Kenny-Caffey Syndrome, Type 2	Transient hypophosphatemia, Increased bone mineral density, Severe short stature, Small for gesta...	OMIM:127000
Idiopathic Pulmonary Hemosiderosis	Hepatomegaly, Rheumatoid factor positive, Glomerulonephritis, Cardiomegaly, Antinuclear antibody ...	ORPHA:99931
Copper Deficiency, Familial Benign	Failure to thrive, Anemia, Seborrheic dermatitis	OMIM:121270
Craniometadiaphyseal Dysplasia, Wormian Bone Type	Osteopenia, Increased bone mineral density, Thin bony cortex, Coxa valga, Short tubular bones of ...	ORPHA:85184
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome	Hepatomegaly, Failure to thrive, Superficial dermal perivascular inflammatory infiltrate, Severe ...	ORPHA:83617
Eosinophilic Fasciitis	Fasciitis, Abnormal eosinophil morphology, Myositis, Eosinophilia, Weight loss, Arthritis	ORPHA:3165
Congenital Disorder Of Glycosylation, Type Iil	Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Impaired T cell function, Splenomegaly...	OMIM:614576
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis	Hepatomegaly, Short stature, Seborrheic dermatitis, Splenomegaly, Micronodular cirrhosis, Truncal...	OMIM:301072
Autoimmune Interstitial Lung, Joint, And Kidney Disease	Arthritis, Crescentic glomerulonephritis, Elevated circulating C-reactive protein concentration	OMIM:616414
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia	Sinusitis, Short stature, Pneumonia, Enteroviral hepatitis, Prostatitis, Epididymitis, Delayed sk...	OMIM:307200
Neutropenia, Severe Congenital, X-Linked	Monocytopenia, Decreased CD4:CD8 ratio, Eczema, Neutropenia	OMIM:300299
Encephalocraniocutaneous Lipomatosis	Craniofacial hyperostosis, Abnormal cartilage morphology, Bone cyst, Osteolysis, Osteochondrosis	ORPHA:2396
Hereditary Sensory And Autonomic Neuropathy Type 4	Fasciitis, Osteomyelitis, Neuropathic arthropathy, Abscess, Painless fractures due to injury, Gro...	ORPHA:642
Biliary Atresia, Extrahepatic	Elevated hepatic transaminase, Hepatomegaly, Atretic gallbladder, Extrahepatic biliary duct atres...	OMIM:210500
Spondyloenchondrodysplasia With Immune Dysregulation	Metaphyseal dysplasia, Short stature, Pneumonia, Short iliac bones, Metaphyseal sclerosis, Autoim...	OMIM:607944
Unclassified Myelodysplastic Syndrome	Acute myeloid leukemia, Bone marrow hypocellularity, Leukocytosis, Autoimmunity	ORPHA:98827
Pyruvate Kinase Deficiency Of Red Cells	Hepatomegaly, Reticulocytosis, Decreased hemoglobin concentration, Reduced red cell pyruvate kina...	OMIM:266200
Cholesteryl Ester Storage Disease	Hepatomegaly, Pruritus, Splenomegaly, Jaundice, Cirrhosis, Hepatic failure	ORPHA:75234
Spondyloepimetaphyseal Dysplasia, Irapa Type	Metaphyseal dysplasia, Short metacarpal, Capitate-hamate fusion, Osteoarthritis, Short metatarsal...	OMIM:271650
Peripheral Dysostosis	Short stature, Joint stiffness, Osteoarthritis, Cone-shaped epiphyses of the phalanges of the han...	ORPHA:1795
Mycosis Fungoides	Pruritus, Psoriasiform dermatitis, Eczema, Lymphadenopathy	OMIM:254400
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome	Fasciitis, Myositis, Pericarditis, Skin rash, Elevated circulating C-reactive protein concentrati...	ORPHA:32960
Nodular Non-Suppurative Panniculitis	Hepatomegaly, Autoimmunity, Splenomegaly, Weight loss, Panniculitis, Inflammatory abnormality of ...	ORPHA:33577
Camptodactyly-Arthropathy-Coxa Vara-Pericarditis Syndrome	Flattened metatarsal heads, Arthropathy, Generalized morning stiffness, Coxa vara, Arthritis, Con...	OMIM:208250
Glycogen Storage Disease Ib	Short stature, Splenomegaly, Hyperlipidemia, Delayed puberty, Osteoporosis, Gout, Inflammation of...	OMIM:232220
Congenital Lethal Erythroderma	Congenital exfoliative erythroderma, Failure to thrive	ORPHA:1954
Idiopathic Chronic Eosinophilic Pneumonia	Autoimmunity, Leukocytosis, Increased circulating IgE level, Hypereosinophilia, Atopic dermatitis...	ORPHA:2902
Congenital Disorder Of Glycosylation, Type Ih	Thrombocytopenia, Elevated circulating creatinine concentration, Hypoalbuminemia, Talipes equinov...	OMIM:608104
Hemophagocytic Syndrome Associated With An Infection	Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Splenomegaly, Thrombocytopenia, Abnorm...	ORPHA:158048
Familial Avascular Necrosis Of Femoral Head	Hip osteoarthritis, Flattened femoral head, Limited hip movement, Abnormal femoral neck/head morp...	ORPHA:86820
Dracunculiasis	Recurrent cutaneous abscess formation, Skin rash, Flexion contracture, Limitation of joint mobili...	ORPHA:231
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib	Osteopenia, Inflammation of the large intestine, Periodontitis, Short stature, Osteoporosis, Incr...	ORPHA:79259
Familial Benign Copper Deficiency	Decreased circulating copper concentration, Short stature, Acne, Diaphyseal thickening, Anemia	ORPHA:1551
Trichorhinophalangeal Syndrome, Type I	Osteopenia, Short metacarpal, Ivory epiphyses of the distal phalanges of the hand, Swelling of pr...	OMIM:190350
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0	Thrombocytopenia, Hyperammonemia, Growth delay, Neutropenia, Pancreatitis, Anemia	ORPHA:289916
Immunodeficiency 68	Recurrent skin infections, Abscess, Lymphadenitis, T lymphocytopenia, B lymphocytopenia, Septic a...	OMIM:612260
Ghosal Hematodiaphyseal Dysplasia	Myelofibrosis, Refractory anemia, Increased bone mineral density, Thrombocytopenia, Diaphyseal dy...	OMIM:231095
Lamellar Ichthyosis	Chronic otitis media, Pruritus, Short stature, Erythroderma	ORPHA:313
Trichothiodystrophy 1, Photosensitive	Small for gestational age, Short stature, Keratoconjunctivitis sicca, Hypogonadism, Erythroderma,...	OMIM:601675
Adult Acute Respiratory Distress Syndrome	Increased circulating interleukin 6 concentration, Pneumonia, Sepsis, Abnormal circulating interl...	ORPHA:70578
Caffey Disease	Joint hypermobility, Bowing of the legs, Tibial bowing, Periosteal thickening of long tubular bon...	OMIM:114000
Mucopolysaccharidosis-Plus Syndrome	Thrombocytopenia, Metaphyseal widening, Recurrent pneumonia, Clubbing, Flexion contracture, Splen...	OMIM:617303
Osteopetrosis, Autosomal Recessive 4	Reticulocytosis, Increased bone mineral density, Recurrent fractures, Splenomegaly, Anemia, Growt...	OMIM:611490
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 1	Osteopenia, Pancytopenia, Aplastic anemia, Clubbing of fingers, Bone marrow hypocellularity, Myel...	OMIM:614742
Autosomal Dominant Epidermolytic Ichthyosis	Weight loss, Erythroderma	ORPHA:312
Developmental Delay, Impaired Speech, And Behavioral Abnormalities	Joint laxity, Failure to thrive, Osteomyelitis, Overweight, Delayed puberty, Obesity, Genu valgum...	OMIM:619475
Osteopetrosis, Autosomal Recessive 8	Splenomegaly, Anemia, Osteopetrosis, Failure to thrive, Thrombocytopenia	OMIM:615085
Congenital Macroglossia	Abnormal hepatic glycogen storage	ORPHA:2430
Wiskott-Aldrich Syndrome	Sinusitis, Abnormal eosinophil morphology, Microcytic anemia, Inflammation of the large intestine...	ORPHA:906
Immunodeficiency 59 And Hypoglycemia	Hepatomegaly, Complete or near-complete absence of specific antibody response to unconjugated pne...	OMIM:233600
Spinocerebellar Ataxia, Autosomal Recessive 21	Hepatomegaly, Splenomegaly, Hepatic fibrosis, Hepatic failure, Hepatic bridging fibrosis	OMIM:616719
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 1	Osteopenia, Arthropathy, Seborrheic dermatitis, Limitation of joint mobility, Clubbing, Osteoporo...	OMIM:259100
Growth Delay-Intellectual Disability-Hepatopathy Syndrome	Elevated hepatic transaminase, Cholestasis, Hepatosplenomegaly, Decreased serum zinc, Hepatic fib...	ORPHA:541423
Autoimmune Disease, Multisystem, With Facial Dysmorphism	Hepatomegaly, Pancytopenia, Short stature, Autoimmunity, Portal hypertension, Failure to thrive i...	OMIM:613385
Nephropathy-Deafness-Hyperparathyroidism Syndrome	Bone cyst, Hypercalcemia, Anemia	ORPHA:2668
Hereditary Spherocytosis	Reticulocytosis, Extramedullary hematopoiesis, Spontaneous hemolytic crises, Maculopapular exanth...	ORPHA:822
Acyl-Coa Dehydrogenase 9 Deficiency	Acute hepatic failure, Elevated hepatic transaminase, Elevated circulating acylcarnitine concentr...	ORPHA:99901
Cholestasis, Progressive Familial Intrahepatic, 1	Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Short stature, Pruritus, Splenomeg...	OMIM:211600
Aicardi-Goutieres Syndrome 9	Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Pericarditis, Failure to thrive,...	OMIM:619487
Short Stature And Advanced Bone Age, With Or Without Early-Onset Osteoarthritis And/Or Osteochondritis Dissecans	Broad hallux, Short stature, Accelerated skeletal maturation, Short thumb, Premature osteoarthrit...	OMIM:165800
Legionnaires Disease	Pericarditis, Myocarditis, Splenomegaly, Jaundice, Hepatitis, Endocarditis, Lymphadenopathy, Bone...	ORPHA:549
Glycogen Storage Disease Ixc	Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Bile duct prolif...	OMIM:613027
Good Syndrome	Abnormal leukocyte morphology, Sinusitis, Recurrent skin infections, Mediastinal lymphadenopathy,...	ORPHA:169105
Nocardiosis	Brain abscess, Pericarditis, Osteomyelitis, Liver abscess, Pneumonia, Keratitis, Lymphadenitis, P...	ORPHA:31204
Avian Influenza	Pneumonia, Elevated circulating creatine kinase concentration, Elevated circulating C-reactive pr...	ORPHA:454836
Bone Marrow Failure Syndrome 3	Acute myeloid leukemia, Metaphyseal dysplasia, Pancytopenia, Congenital hip dislocation, Aplastic...	OMIM:617052
Doors Syndrome	Aplasia/Hypoplasia of the phalanges of the 2nd toe, Sagittal craniosynostosis, Abnormal toe morph...	ORPHA:79500
Neutral Lipid Storage Disease With Ichthyosis	Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Micronodular cirrhosis, Obesit...	ORPHA:98907
Takayasu Arteritis	Increased inflammatory response, Weight loss, Arthritis, Inflammatory abnormality of the eye, Anemia	ORPHA:3287
Babesiosis	Hepatomegaly, Hemolytic anemia, Splenomegaly, Jaundice, Leukopenia, Hepatic failure, Thrombocytop...	ORPHA:108
Wolman Disease	Hepatomegaly, Bone-marrow foam cells, Cachexia, Splenomegaly, Growth delay, Ascites, Hepatic fail...	ORPHA:75233
3-Methylcrotonyl-Coa Carboxylase 1 Deficiency	Acute hepatic steatosis, Acute hyperammonemia, Failure to thrive, Vomiting	OMIM:210200
Immunodeficiency 17	Autoimmune hemolytic anemia, Eczema, Decreased proportion of CD8-positive T cells, Chronic decrea...	OMIM:615607
Autosomal Dominant Kenny-Caffey Syndrome	Stenosis of the medullary cavity of the long bones, Short stature, Delayed cranial suture closure...	ORPHA:93325
Bare Lymphocyte Syndrome, Type Ii	Viral hepatitis, Cholangitis, Chronic mucocutaneous candidiasis, Agammaglobulinemia, Panhypogamma...	OMIM:209920
Pemphigus Foliaceus	Psoriasiform dermatitis, Autoimmunity, Pustule, Pruritus, Crusting erythematous dermatitis, Eryth...	ORPHA:79481
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2	Accessory spleen, Hepatomegaly, Hypertriglyceridemia, Failure to thrive in infancy, Microvesicula...	OMIM:619418
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency	Inguinal hernia, Hyperhomocystinemia, Hypermethioninemia, Failure to thrive, Hepatic steatosis, P...	OMIM:236200
Hemoglobin E Disease	Drug-sensitive hemolytic anemia, Abnormal hemoglobin, Anemia of inadequate production, Splenomega...	ORPHA:2133
Shigellosis	Hyponatremia, Failure to thrive in infancy, Pneumonia, Abscess, Myocarditis, Peritonitis, Leukocy...	ORPHA:810
Eosinophilic Gastroenteritis	Allergic rhinitis, Elevated circulating C-reactive protein concentration, Eosinophilia, Leukocyto...	ORPHA:2070
Hereditary Amyloidosis With Primary Renal Involvement	Male infertility, Hepatomegaly, Primary testicular failure, Hepatosplenomegaly, Lymphadenopathy, ...	ORPHA:85450
Neuropathy, Hereditary Sensory, With Spastic Paraplegia, Autosomal Recessive	Foot osteomyelitis, Hypotriglyceridemia, Decreased circulating apolipoprotein B concentration	OMIM:256840
Spondyloepiphyseal Dysplasia Congenita	Abnormally ossified vertebrae, Short femur, Limited elbow movement, Osteoporosis, Upper limb unde...	ORPHA:94068
Trappc11-Related Limb-Girdle Muscular Dystrophy R18	Elevated hepatic transaminase, Hepatomegaly, Abnormal circulating creatine kinase concentration, ...	ORPHA:369840
Kniest Dysplasia	Arthropathy, Enlarged epiphyses, Enlarged joints, Abnormality of the epiphysis of the femoral hea...	ORPHA:485
Pleural Mesothelioma	Hepatomegaly, Weight loss, Lymphadenopathy	ORPHA:50251
Acute Promyelocytic Leukemia	Pancytopenia, Metrorrhagia, Thrombocytopenia, Leukocytosis, Lymphadenopathy, Weight loss, Leukope...	ORPHA:520
Cholestasis, Progressive Familial Intrahepatic, 8	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Portal hypertension,...	OMIM:619662
Red Cell Phospholipid Defect With Hemolysis	Splenomegaly, Reticulocytosis, Intermittent jaundice	OMIM:179700
Systemic Lupus Erythematosus 17	Lymphopenia, Autoimmune thrombocytopenia, Thrombocytopenia, Leukopenia, Optic neuritis, Malar ras...	OMIM:301080
Cholestasis, Progressive Familial Intrahepatic, 9	Hepatomegaly, Malformation of the hepatic ductal plate, Portal hypertension, Pruritus, Intrahepat...	OMIM:619849
Immunodeficiency 23	Hemolytic anemia, Lymphopenia, Membranoproliferative glomerulonephritis, Allergic rhinitis, Eczem...	OMIM:615816
Familial Osteodysplasia, Anderson Type	Recurrent fractures, Aplastic clavicle, Elbow dislocation, Bifid femur, Increased susceptibility ...	ORPHA:2769
Alveolar Echinococcosis	Abnormal pelvis bone morphology, Liver abscess, Cholangitis, Eosinophilia, Bone cyst, Weight loss...	ORPHA:284
Spondyloenchondrodysplasia	Metaphyseal dysplasia, Pancytopenia, Autoimmune hemolytic anemia, Skin rash, Pneumonia, Short sta...	ORPHA:1855
Anemia, Sideroblastic, 3, Pyridoxine-Refractory	Elevated hepatic transaminase, Hepatomegaly, Anisocytosis, Splenomegaly, Jaundice, Hepatosplenome...	OMIM:616860
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency	Impaired neutrophil bactericidal activity, Pigment gallstones, Spontaneous hemolytic crises, Sple...	OMIM:613470
Whipple Disease	Hyponatremia, Myositis, Pericarditis, Cachexia, Myocarditis, Splenomegaly, Uveitis, Arthritis, In...	ORPHA:3452
T-Cell Lymphoma, Subcutaneous Panniculitis-Like	Pancytopenia, Autoimmunity, Splenomegaly, Panniculitis, Hemophagocytosis, Anemia	OMIM:618398
Noonan Syndrome 12	Thrombocytopenia, Lymphopenia, Atopic dermatitis, Proximal placement of thumb	OMIM:618624
Ataxia-Telangiectasia	Failure to thrive, Short stature, Decreased circulating antibody level, Delayed puberty, Lymphopenia	ORPHA:100
Lead Poisoning	Decreased HDL cholesterol concentration, Skin rash, Small for gestational age, Delayed skeletal m...	ORPHA:330015
Rhabdoid Tumor	Weight loss, Anemia, Neoplasm of the liver, Lymphadenopathy, Thrombocytopenia	ORPHA:69077
Abetalipoproteinemia	Elevated hepatic transaminase, Hepatomegaly, Decreased HDL cholesterol concentration, Cardiomegal...	ORPHA:14
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type	Osteopenia, Short femur, Fractured radius, Small for gestational age, Wormian bones, Decreased fi...	OMIM:616897
Scrub Typhus	Anterior uveitis, Skin rash, Myocarditis, Splenomegaly, Lymphadenopathy, Infectious encephalitis	ORPHA:83317
Fructose-1,6-Bisphosphatase Deficiency	Elevated hepatic transaminase, Hepatomegaly, Diarrhea, Vomiting, Hyperuricemia, Hyperalaninemia, ...	ORPHA:348
Alopecia-Intellectual Disability Syndrome 4	Bilateral cryptorchidism, Erythroderma	OMIM:618840
Pemphigus Erythematosus	Antinuclear antibody positivity, Anti-acetylcholine receptor antibody positivity, Autoimmunity, S...	ORPHA:79480
Transketolase Deficiency	Hepatomegaly, Proportionate short stature, Seborrheic dermatitis, Uveitis, Secondary amenorrhea, ...	ORPHA:488618
Spondyloepiphyseal Dysplasia, Kimberley Type	Proportionate short stature, Osteoarthritis, Abnormal epiphysis morphology, Micromelia	ORPHA:93283
Sclerosing Cholangitis, Neonatal	Hepatomegaly, Portal hypertension, Hepatic bridging fibrosis, Pruritus, Splenomegaly, Jaundice, B...	OMIM:617394
Lig4 Syndrome	Hepatomegaly, Pancytopenia, Cryptorchidism, Leukocytosis, Acute leukemia, Lymphadenopathy, Growth...	ORPHA:99812
Diamond-Blackfan Anemia 7	Osteopenia, Macrocytic anemia, Short thumb, Osteoporosis, Neutropenia, Growth delay, Increased me...	OMIM:612562
Caroli Disease	Hepatomegaly, Cholangiocarcinoma, Liver abscess, Cholangitis, Portal hypertension, Pruritus, Intr...	ORPHA:53035
Osteoarthritis Susceptibility 3	Osteoarthritis of the first carpometacarpal joint, Osteoarthritis of the distal interphalangeal j...	OMIM:607850
Ehlers-Danlos Syndrome, Classic-Like, 2	Hallux valgus, Osteopenia, Osteoarthritis, Squared iliac bones, Hip dislocation, Osteoporosis, Ge...	OMIM:618000
Alpha-Thalassemia-Myelodysplastic Syndrome	Microcytic anemia, Splenomegaly, Acute leukemia, Neutropenia, HbH hemoglobin, Thrombocytopenia	ORPHA:231401
Bile Acid Synthesis Defect, Congenital, 5	Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Iron de...	OMIM:616278
Chronic Granulomatous Disease	Hepatomegaly, Sinusitis, Liver abscess, Eczema, Abnormality of neutrophils, Splenomegaly, Mediast...	ORPHA:379
Beta-Thalassemia Intermedia	Osteopenia, Increased HbA2 hemoglobin, Extramedullary hematopoiesis, Anemia of inadequate product...	ORPHA:231222
Sarcoidosis, Susceptibility To, 1	Pancytopenia, Abnormality of T cell physiology, Iridocyclitis, Splenomegaly, Bone cyst, Clubbing,...	OMIM:181000
Familial Mediterranean Fever	Pericarditis, Neutrophilia, Elevated circulating C-reactive protein concentration, Orchitis, Sple...	OMIM:249100
Ichthyosis Prematurity Syndrome	Pruritus, Allergic rhinitis, Erythroderma	OMIM:608649
Intellectual Developmental Disorder, Fra12A Type	Erythroderma	OMIM:136630
Osteogenesis Imperfecta, Type Xviii	Joint laxity, Bowing of the long bones, Recurrent fractures, Joint hypermobility, Femoral bowing,...	OMIM:617952
Periodic Fever, Familial, Autosomal Dominant	Hepatomegaly, Myositis, Skin rash, Maculopapular exanthema, Cervical lymphadenopathy, Oligoarthri...	OMIM:142680
Iga Pemphigus	Neutrophilic infiltration of the skin, Monoclonal elevation of circulating IgA, Eosinophilia, Inc...	ORPHA:555905
Gm1 Gangliosidosis	Short stature, Camptodactyly of finger, Joint stiffness, Splenomegaly, Weight loss, Hepatosplenom...	ORPHA:354
Wilson Disease	Acute hepatic failure, Decreased circulating ceruloplasmin concentration, Osteoarthritis, Vomitin...	OMIM:277900
Osteoarthritis With Mild Chondrodysplasia	Heberden's node, Short stature, Joint stiffness, Knee osteoarthritis, Hip osteoarthritis	OMIM:604864
Mutilating Hereditary Sensory Neuropathy With Spastic Paraplegia	Foot osteomyelitis	ORPHA:139578
Acrocapitofemoral Dysplasia	Micromelia, Short proximal phalanx of thumb, Coxa vara, Short palm, Hypoplastic iliac wing, Short...	OMIM:607778
Splenoportal Vascular Anomalies	Anomalous splenoportal venous system, Splenomegaly, Hepatic fibrosis, Cirrhosis, Ascites	OMIM:271500
Rajab Interstitial Lung Disease With Brain Calcifications 1	Osteopenia, Joint laxity, Pancytopenia, Small for gestational age, Short stature, Delayed skeleta...	OMIM:613658
Lysinuric Protein Intolerance	Osteopenia, Decreased HDL cholesterol concentration, Tubulointerstitial nephritis, Leukopenia, Ab...	ORPHA:470
Multiple Acyl-Coa Dehydrogenase Deficiency	Hepatomegaly, Jaundice, Vomiting, Elevated circulating glutaric acid concentration, Hepatic perip...	OMIM:231680
Felty Syndrome	Splenomegaly, Rheumatoid arthritis, Neutropenia	OMIM:134750
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy	Truncal obesity, Increased hepatic glycogen content, Large for gestational age, Increased circula...	ORPHA:293964
Sponastrime Dysplasia	Delayed epiphyseal ossification, Osteopathia striata, Metaphyseal widening, Generalized joint lax...	ORPHA:93357
Osteogenesis Imperfecta	Osteopenia, Micromelia, Abnormal tibia morphology, Osteoarthritis, Flexion contracture, Abnormal ...	ORPHA:666
Short Stature With Microcephaly And Distinctive Facies	Osteopenia, Syndactyly, Severe short stature, Small for gestational age, Proximal placement of th...	OMIM:615789
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome	Reticulocytosis, HbS hemoglobin, Asplenia, Splenomegaly, Splenic infarction, Hypochromic microcyt...	ORPHA:251380
Insensitivity To Pain, Congenital, With Anhidrosis	Keratitis, Autoamputation of digits, Osteomyelitis, Neuropathic arthropathy	OMIM:256800
Ichthyosis, Congenital, Autosomal Recessive 5	Acanthocytosis, Erythroderma	OMIM:604777
Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive	Flattened metatarsal heads, Short stature, Osteoarthritis, Hip osteoarthritis, Flattened metacarp...	OMIM:271600
Cartilage-Hair Hypoplasia	Joint laxity, Metaphyseal dysplasia, Macrocytic anemia, Impaired lymphocyte transformation with p...	OMIM:250250
Acute Lung Injury	Acute pancreatitis, Increased circulating interleukin 6 concentration, Pneumonia, Sepsis, Abnorma...	ORPHA:178320
Chanarin-Dorfman Syndrome	Hepatomegaly, Hepatic steatosis	OMIM:275630
Glycosylphosphatidylinositol Biosynthesis Defect 1	Portal vein thrombosis, Hepatomegaly, Portal hypertension, Splenomegaly	OMIM:610293
Kid Syndrome	Angular cheilitis, Equinus calcaneus, Posterior blepharitis, Patellar hypoplasia, Recurrent cutan...	ORPHA:477
Anemia, Congenital Dyserythropoietic, Type Ia	Hepatomegaly, Hemolytic anemia, Reticulocytosis, Mild postnatal growth retardation, Small for ges...	OMIM:224120
Muckle-Wells Syndrome	Maculopapular exanthema, Short stature, Elevated circulating C-reactive protein concentration, Le...	OMIM:191900
Drug-Induced Lupus Erythematosus	Pericarditis, Elevated circulating creatine kinase concentration, Elevated circulating C-reactive...	ORPHA:231111
Bloom Syndrome	Uveitis, Otitis media, Decreased circulating IgG level, Decreased proportion of CD4-positive T ce...	ORPHA:125
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency	Chronic gastritis, Liver abscess, Cholangitis, Cholecystitis, Decreased circulating IgG level, Ps...	ORPHA:183675
Relapsing Fever	Neutrophilia, Elevated circulating C-reactive protein concentration, Thrombocytopenia, Leukocytos...	ORPHA:91547
Osteogenesis Imperfecta, Type X	Osteopenia, Joint laxity, Bowing of the long bones, Short femur, Rhizomelia, Short stature, Micro...	OMIM:613848
Autoimmune Polyendocrinopathy Type 4	Osteopenia, Atrophic gastritis, Macrocytic anemia, Autoimmune thrombocytopenia, Iridocyclitis, He...	ORPHA:227990
Neuraminidase Deficiency	Hepatomegaly, Short stature, Bone-marrow foam cells, Cardiomegaly, Splenomegaly, Vacuolated lymph...	OMIM:256550
Familial Calcium Pyrophosphate Deposition	Joint dislocation, Osteoarthritis, Limitation of joint mobility, Arthritis, Joint swelling, Calci...	ORPHA:1416
Ankylosing Vertebral Hyperostosis With Tylosis	Osteoarthritis, Abnormal pelvis bone morphology, Obesity	ORPHA:2206
Adrenomyodystrophy	Failure to thrive, Hepatic steatosis	ORPHA:977
Thrombocytopenia-Absent Radius Syndrome	Femoral bowing, Abnormal shoulder morphology, Clinodactyly of the 5th finger, Phocomelia, Short p...	OMIM:274000
Anti-Glomerular Basement Membrane Disease	Arthritis, Anemia	ORPHA:375
Spondyloepimetaphyseal Dysplasia, Missouri Type	Radial bowing, Rhizomelia, Ulnar bowing, Osteoarthritis, Flared metaphysis, Delayed skeletal matu...	OMIM:602111
Laryngeal Neuroendocrine Tumor	Chronic noninfectious lymphadenopathy, Weight loss	ORPHA:100083
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form	Hepatomegaly, Elevated circulating creatine kinase concentration, Cardiomegaly, Elevated circulat...	ORPHA:228308
Hemoglobin C-Beta-Thalassemia Syndrome	Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia	ORPHA:231242
3-Methylglutaconic Aciduria, Type V	Microvesicular hepatic steatosis, Failure to thrive, Elevated circulating alanine aminotransferas...	OMIM:610198
Alpha-Thalassemia	Hemolytic anemia, Abnormal hemoglobin, Microcytic anemia, Hypersplenism, Splenomegaly, Jaundice, ...	ORPHA:846
Sjogren Syndrome	Autoimmunity, Rheumatoid arthritis	OMIM:270150
17Q11 Microdeletion Syndrome	Osteopenia, Short stature, Bowing of the legs, Osteoporosis, Osteolysis, Diaphyseal dysplasia, La...	ORPHA:97685
Ichthyosis, Congenital, Autosomal Recessive 7	Erythroderma	OMIM:615022
Aicardi-Goutieres Syndrome 7	Hemolytic anemia, Atrophic gastritis, Pancytopenia, Skin rash, Pneumonia, Chilblains, Increased c...	OMIM:615846
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)	Elevated hepatic transaminase, Hypertyrosinemia, Failure to thrive, Conjugated hyperbilirubinemia...	OMIM:617156
Sarcoidosis, Susceptibility To, 2	Hepatomegaly, Erythema nodosum, Splenomegaly, Mediastinal lymphadenopathy, Bronchiectasis, Uveitis	OMIM:612387
Combined Oxidative Phosphorylation Deficiency 55	Short stature, Elevated circulating creatine kinase concentration, Thrombocytopenia, Hypophosphat...	OMIM:619743
Transaldolase Deficiency	Hepatomegaly, Pancytopenia, Small for gestational age, Splenomegaly, Micronodular cirrhosis, Thro...	OMIM:606003
Cholestasis-Lymphedema Syndrome	Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Abnormality of the lymphatic system, B...	ORPHA:1414
Portal Hypertension, Noncirrhotic, 1	Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Splenomegaly	OMIM:617068
Kienbock Disease	Osteoarthritis, Limitation of joint mobility, Bone pain, Abnormality of the wrist, Avascular necr...	ORPHA:97332
B4Galt1-Cdg	Elevated hepatic transaminase, Hepatomegaly, Inflammatory abnormality of the skin, Small for gest...	ORPHA:79332
Hermansky-Pudlak Syndrome 2	Hepatomegaly, Absent platelet dense granules, Reduced natural killer cell activity, Splenomegaly,...	OMIM:608233
Fish-Eye Disease	Splenomegaly, Hepatomegaly, Lymphadenopathy	ORPHA:79292
Otospondylomegaepiphyseal Dysplasia, Autosomal Dominant	Epiphyseal dysplasia, Enlarged epiphyses, Premature osteoarthritis	OMIM:184840
Multiple Myeloma	Osteopenia, Hypercalcemia, Increased circulating IgA level, Splenomegaly, Elevated circulating cr...	ORPHA:29073
Carnitine-Acylcarnitine Translocase Deficiency	Elevated hepatic transaminase, Hepatomegaly, Elevated circulating creatine kinase concentration, ...	OMIM:212138
Erythrokeratodermia Variabilis Et Progressiva 1	Erythroderma	OMIM:133200
Primary Intestinal Lymphangiectasia	Lymphopenia, Decreased circulating antibody level, Weight loss, Decreased circulating total IgM, ...	ORPHA:90362
Cerebroretinal Microangiopathy With Calcifications And Cysts 1	Osteopenia, Bowing of the long bones, Short stature, Metaphyseal sclerosis, Thrombocytopenia, Pos...	OMIM:612199
Acute Monoblastic/Monocytic Leukemia	Acute monocytic leukemia, Leukocytosis, Cervical lymphadenopathy, Weight loss, Lymphocytosis, Hyp...	ORPHA:514
Psoriasis-Related Juvenile Idiopathic Arthritis	Finger dactylitis, Anterior uveitis, Abnormality of the knee, Psoriasiform dermatitis, Skin rash,...	ORPHA:85436
Autoimmune Polyendocrinopathy Type 3	Osteopenia, Atrophic gastritis, Macrocytic anemia, Autoimmune thrombocytopenia, Iridocyclitis, He...	ORPHA:227982
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2	Thrombocytopenia, Radioulnar synostosis, Short middle phalanx of the 4th finger, Neutropenia, Ove...	OMIM:616738
Lipodystrophy, Congenital Generalized, Type 1	Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Reduced subcutaneous adipose tis...	OMIM:608594
Familial Thrombocytosis	Acute myeloid leukemia, Splenomegaly, Chronic myelogenous leukemia, Weight loss, Thrombocytosis	ORPHA:71493
Pseudo-Torch Syndrome 3	Lymphadenitis, Leukocytosis, Increased circulating ferritin concentration, Congenital thrombocyto...	OMIM:618886
Epidermolytic Hyperkeratosis 1	Erythroderma	OMIM:113800
Camurati-Engelmann Disease	Abnormal tibia morphology, Craniofacial osteosclerosis, Bone pain, Abnormal femur morphology, Cor...	ORPHA:1328
Insulin-Resistance Syndrome Type B	Abnormal circulating lipid concentration, Skin rash, Pneumonia, Abnormality of body weight, Incre...	ORPHA:2298
Ichthyosis, Congenital, Autosomal Recessive 10	Erythroderma	OMIM:615024
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency	Hypertriglyceridemia, Short stature, Elevated circulating creatine kinase concentration, Postnata...	ORPHA:79240
Pneumocystosis	Abnormal neutrophil count, Weight loss, Acute infectious pneumonia, Interstitial pneumonitis, Inc...	ORPHA:723
Budd-Chiari Syndrome	Elevated hepatic transaminase, Hepatomegaly, Acute hepatic failure, Portal hypertension, Splenome...	ORPHA:131
Pediatric-Onset Graves Disease	Episcleritis, Hepatomegaly, Elevated hepatic transaminase, Autoimmunity, Keratitis, Splenomegaly,...	ORPHA:525731
Subaortic Stenosis-Short Stature Syndrome	Inguinal hernia, Acne, Biliary tract abnormality, Obesity, Abnormal circulating lipid concentration	ORPHA:3191
Systemic Lupus Erythematosus	Hemolytic anemia, Lupus nephritis, Discoid lupus rash, Antinuclear antibody positivity, Anti-La/S...	ORPHA:536
Hb Bart'S Hydrops Fetalis	Hepatomegaly, Pericarditis, Abnormal hemoglobin, Splenomegaly, Anemia	ORPHA:163596
Epidermolytic Hyperkeratosis 2	Erythroderma	OMIM:620150
Acute Panmyelosis With Myelofibrosis	Myelofibrosis, Acute myeloid leukemia, Pancytopenia, Splenomegaly, Acute myelomonocytic leukemia,...	ORPHA:86843
Portal Hypertension, Noncirrhotic, 2	Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Nodular regenerative hyperplasi...	OMIM:619463
Fanconi Anemia, Complementation Group V	Short stature, Elevated circulating alpha-fetoprotein concentration, Thrombocytopenia, Bone marro...	OMIM:617243
Primary Sclerosing Cholangitis	Acute hepatic failure, Abnormal eosinophil morphology, Uveitis, Hepatic fibrosis, Neoplasm of the...	ORPHA:171
Autosomal Recessive Malignant Osteopetrosis	Bowing of the long bones, Recurrent fractures, Craniosynostosis, Splenomegaly, Bone pain, Hypopho...	ORPHA:667
Congenital Hyperinsulinism Due To Hnf4A Deficiency	Elevated hepatic transaminase, Hepatomegaly, Large for gestational age, Abnormal circulating fatt...	ORPHA:263455
Glycogen Storage Disease Ixa1	Elevated hepatic transaminase, Hepatomegaly, Growth delay, Splenomegaly	OMIM:306000
Anemia, Congenital Dyserythropoietic, Type Ii	Reticulocytosis, Anemia of inadequate production, Splenomegaly, Jaundice, Cholelithiasis	OMIM:224100
Hemochromatosis, Type 1	Elevated hepatic transaminase, Hepatomegaly, Hypogonadotropic hypogonadism, Cardiomegaly, Splenom...	OMIM:235200
Castleman Disease	Increased circulating interleukin 6 concentration, Generalized lymphadenopathy, Abdominal mass, F...	ORPHA:160
Ichthyosis, Hystrix-Like, With Deafness	Punctate keratitis, Erythroderma	OMIM:602540
Stüve-Wiedemann Syndrome	Osteopenia, Bowing of the long bones, Short stature, Camptodactyly of finger, Recurrent fractures...	ORPHA:3206
X-Linked Dominant Chondrodysplasia Punctata	Severe postnatal growth retardation, Short stature, Erythroderma	ORPHA:35173
Autoinflammatory Syndrome, Familial, Behcet-Like 1	Anterior uveitis, Hemolytic anemia, Skin rash, Colitis, Polyarticular arthritis, Lymphopenia, Thr...	OMIM:616744
Lysosomal Acid Lipase Deficiency	Microvesicular hepatic steatosis, Hepatic fibrosis, Vomiting, Hyponatremia, Hepatosplenomegaly, D...	ORPHA:275761
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease	Acne, Dorsocervical fat pad, Paradoxical increased cortisol secretion on dexamethasone suppressio...	ORPHA:189427
Camurati-Engelmann Disease	Increased bone mineral density, Lower limb pain, Diaphyseal sclerosis, Genu valgum, Cortical thic...	OMIM:131300
Proteasome-Associated Autoinflammatory Syndrome 1	Increased circulating interleukin 6 concentration, Cardiomegaly, Microcytic anemia, Increased cir...	OMIM:256040
Primary Biliary Cholangitis	Abnormal circulating lipid concentration, Portal hypertension, Increased circulating IgA level, C...	ORPHA:186
Trichothiodystrophy	Congenital exfoliative erythroderma, Eczema, Cryptorchidism, Increased mean corpuscular hemoglobi...	ORPHA:33364
Fabry Disease	Short stature, Hyperlipidemia, Abnormal femur morphology, Reduced bone mineral density, Arthritis...	ORPHA:324
Lipodystrophy, Congenital Generalized, Type 2	Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Reduced subcutaneous adipose tis...	OMIM:269700
Cyanosis, Transient Neonatal	Hepatomegaly, Reticulocytosis, Jaundice, Methemoglobinemia, Anemia	OMIM:613977
Acromesomelic Dysplasia 2A	Hypoplasia of the ulna, Short humerus, Short femur, Aplasia/Hypoplasia of the patella, Postaxial ...	OMIM:200700
Osteosclerosis With Ichthyosis And Fractures	Increased bone mineral density, Recurrent fractures, Femoral bowing, Tibial bowing, Cortical thic...	OMIM:166740
Combined Oxidative Phosphorylation Deficiency 12	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating...	OMIM:614924
Ossification Anomalies-Psychomotor Developmental Delay Syndrome	Postnatal growth retardation, Metaphyseal widening, Triangular shaped distal phalanges of the han...	ORPHA:73230
Methylmalonic Aciduria And Homocystinuria, Cblf Type	Methylmalonic acidemia, Pancytopenia, Skin rash, Small for gestational age, Short stature, Megalo...	OMIM:277380
Typhoid	Skin rash, Hepatomegaly, Infectious encephalitis, Splenomegaly	ORPHA:99745
Simple Cryoglobulinemia	Viral hepatitis, Pericarditis, Membranoproliferative glomerulonephritis, Monoclonal elevation of ...	ORPHA:91139
Fructose Intolerance, Hereditary	Elevated hepatic transaminase, Hepatomegaly, Gastrointestinal hemorrhage, Jaundice, Bicarbonaturi...	OMIM:229600
Frank-Ter Haar Syndrome	Short palm, Osteopenia, Bowing of the long bones, Acne, Delayed cranial suture closure, Metatarsu...	OMIM:249420
Slipped Femoral Capital Epiphyses	Hip osteoarthritis, Proximal femoral epiphysiolysis	OMIM:182260
Necrobiosis Lipoidica	Inflammatory abnormality of the skin, Granuloma, Abnormality of neutrophil physiology	ORPHA:542592
Staphylococcal Necrotizing Pneumonia	Neutrophilia, Pneumonia, Elevated circulating C-reactive protein concentration, Leukocytosis, Acu...	ORPHA:36238
Ivic Syndrome	Hypoplasia of the ulna, Short femur, Limited interphalangeal movement, Limited elbow movement, Ab...	OMIM:147750
Neutral Lipid Storage Myopathy	Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Very long chain fatty acid acc...	ORPHA:98908
Oculocerebrorenal Syndrome Of Lowe	Hypoammonemia, Periodontitis, Chronic otitis media, Hyponatremia, Short stature, Osteomalacia, Jo...	ORPHA:534
Lymphoid Interstitial Pneumonia	Hepatomegaly, Skin rash, Eczema, Autoimmunity, Mediastinal lymphadenopathy, Autoimmune antibody p...	ORPHA:79128
Pyoderma Gangrenosum	Myositis, Pustule, Inflammation of the large intestine, Increased circulating antibody level, Rhe...	ORPHA:48104
Igg4-Related Submandibular Gland Disease	Cholangitis, Increased circulating IgG4 level, Autoimmunity, Retroperitoneal fibrosis, Eosinophil...	ORPHA:449432
Cryptogenic Organizing Pneumonia	Leukocytosis, Neutrophilia, Elevated circulating C-reactive protein concentration, Weight loss	ORPHA:1302
Acrodermatitis Enteropathica, Zinc-Deficiency Type	Hepatomegaly, Short stature, Impaired T cell function, Splenomegaly, Hypogonadism, Failure to thr...	OMIM:201100
Progeria-Short Stature-Pigmented Nevi Syndrome	Elevated hepatic transaminase, Neoplasm of the pancreas, Multiple joint contractures, Small for g...	ORPHA:2959
Congenital Disorder Of Glycosylation, Type If	Failure to thrive, Erythroderma	OMIM:609180
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome	Accessory spleen, Lymphopenia, Severe B lymphocytopenia, Delayed cranial suture closure, Craniosy...	OMIM:620005
Reynolds Syndrome	Elevated hepatic transaminase, Hepatomegaly, Erythema nodosum, Antinuclear antibody positivity, P...	OMIM:613471
Rheumatoid Arthritis	Swan neck-like deformities of the fingers, Elevated circulating C-reactive protein concentration,...	OMIM:180300
Localized Scleroderma	Fasciitis, Flexion contracture, Uveitis, Arthritis, Esophagitis, Sclerosis of finger phalanx, Has...	ORPHA:90289
Hydrops, Lactic Acidosis, And Sideroblastic Anemia	Sideroblastic anemia, Extramedullary hematopoiesis, Small for gestational age, Thrombocytopenia, ...	OMIM:617021
Leukocyte Adhesion Deficiency Type Ii	Neutrophilia, Severe periodontitis, Overlapping toe, Small for gestational age, Microcytic anemia...	ORPHA:99843
Lenz-Majewski Hyperostotic Dwarfism	Finger syndactyly, Increased bone mineral density, Severe short stature, Aplastic clavicle, Abnor...	ORPHA:2658
Peripheral Dysostosis	Hip osteoarthritis, Short phalanx of finger, Cone-shaped epiphyses of the phalanges of the hand	OMIM:170700
3-Hydroxyacyl-Coa Dehydrogenase Deficiency	Fulminant hepatic failure, Hepatic steatosis, Hepatic necrosis	OMIM:231530
Stickler Syndrome Type 1	Abnormal vertebral epiphysis morphology, Osteoarthritis, Abnormal epiphysis morphology, Joint hyp...	ORPHA:90653
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy	Camptodactyly of finger, Flexion contracture, Hyperammonemia, Growth delay, Intrauterine growth r...	ORPHA:1194
Marburg Hemorrhagic Fever	Reticulocytosis, Pericarditis, Lymphopenia, Skin rash, Maculopapular exanthema, Elevated circulat...	ORPHA:99826
Autoinflammation With Pulmonary And Cutaneous Vasculitis	Splenomegaly, Hepatomegaly, Interstitial pneumonitis, Anemia	OMIM:620296
Spherocytosis, Type 5	Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Abnormal platelet count...	OMIM:612690
Chondrodysplasia Punctata 2, X-Linked Dominant	Postnatal growth retardation, Failure to thrive, Rhizomelia, Erythroderma	OMIM:302960
Aicardi-Goutieres Syndrome 1	Elevated hepatic transaminase, Hepatomegaly, Antiphospholipid antibody positivity, Short stature,...	OMIM:225750
Igg4-Related Kidney Disease	Rheumatoid factor positive, Lymphadenitis, Tubulointerstitial nephritis, Increased circulating Ig...	ORPHA:449395
Immunodeficiency 22	Pericarditis, Failure to thrive, Abscess, Thrombocytopenia, Decreased circulating total IgM, Pann...	OMIM:615758
Chédiak-Higashi Syndrome	Elevated hepatic transaminase, Recurrent bacterial skin infections, Abnormal leukocyte morphology...	ORPHA:167
Sepsis In Premature Infants	Hepatomegaly, Increased circulating interleukin 6 concentration, Small for gestational age, Splen...	ORPHA:90051
Melioidosis	Foot osteomyelitis, Brain abscess, Liver abscess, Lung abscess, Pneumonia, Abnormality of the spl...	ORPHA:31202
Poikiloderma With Neutropenia	Skin rash, Short stature, Splenomegaly, Recurrent pneumonia, Growth delay, Leukopenia, Conjunctiv...	OMIM:604173
Harderoporphyria	Hepatomegaly, Hemolytic anemia, Reticulocytosis, Splenomegaly, Prolonged neonatal jaundice	OMIM:618892
Oculodentodigital Dysplasia	Finger syndactyly, Toe syndactyly, Camptodactyly of finger, Short hallux, Aplasia/Hypoplasia of t...	ORPHA:2710
Cimdag Syndrome	Microvesicular hepatic steatosis, Lipodystrophy, Cholelithiasis, Hepatomegaly	OMIM:619273
Transcobalamin Ii Deficiency	Hepatomegaly, Macrocytic anemia, Pancytopenia, Failure to thrive, Erythroid hypoplasia, Reticuloc...	OMIM:275350
Hennekam Syndrome	Lymphopenia, Mild postnatal growth retardation, Splenomegaly, Pulmonary lymphangiectasia, Decreas...	ORPHA:2136
Primary Sjögren Syndrome	Normocytic anemia, Myositis, Chronic active hepatitis, Tubulointerstitial nephritis, Leukopenia, ...	ORPHA:289390
Lissencephaly Type 3-Metacarpal Bone Dysplasia Syndrome	Short metacarpal, Abnormal cartilage matrix, Epiphyseal stippling, Talipes equinovarus, Arthrogry...	ORPHA:86822
Thymoma	Myositis, Aplastic anemia, Glomerulonephritis, Pure red cell aplasia, Imbalanced hemoglobin synth...	ORPHA:99867
Fanconi-Bickel Syndrome	Hepatomegaly, Failure to thrive, Hypertriglyceridemia, Elevated circulating aspartate aminotransf...	ORPHA:2088
Glycogen Storage Disease Ia	Short stature, Hyperlipidemia, Osteoporosis, Gout, Growth delay, Hyperuricemia, Delayed puberty, ...	OMIM:232200
Vitreoretinopathy With Phalangeal Epiphyseal Dysplasia	Hip osteoarthritis, Abnormal epiphysis morphology of the phalanges of the hand, Brachydactyly	OMIM:619248
Sneddon Syndrome	Decreased circulating total IgM, Lymphopenia	OMIM:182410
Infection-Related Hemolytic Uremic Syndrome	Hyponatremia, Hemolytic anemia, Increased circulating interleukin 6 concentration, Brain abscess,...	ORPHA:544482
Sickle Cell Disease	Hepatomegaly, Hemolytic anemia, Cardiomegaly, Splenomegaly, Jaundice, Splenic infarction, Leukocy...	OMIM:603903
19P13.12 Microdeletion Syndrome	Arthrogryposis multiplex congenita, Hyperlipidemia, Hepatic steatosis, Obesity	ORPHA:254346
Trichothiodystrophy 3, Photosensitive	Failure to thrive, Short stature, Increased circulating IgA level, Neutropenia, Intrauterine grow...	OMIM:616395
Meige Disease	Recurrent bacterial skin infections, Recurrent skin infections, Lymph node hypoplasia, Absence of...	ORPHA:90186
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency	Normocytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Normochromic anemia, Nonspherocytic h...	OMIM:235700
D-Bifunctional Protein Deficiency	Elevated hepatic transaminase, Hepatomegaly, Very long chain fatty acid accumulation, Fetal ascit...	OMIM:261515
Hypermobile Ehlers-Danlos Syndrome	Joint dislocation, Elbow dislocation, Osteoarthritis, Limitation of joint mobility, Hip dislocati...	ORPHA:285
Erythroderma Desquamativum	Failure to thrive, Seborrheic dermatitis	ORPHA:314
Cryoglobulinemic Vasculitis	Hepatomegaly, Viral hepatitis, Splenomegaly, Mediastinal lymphadenopathy, Arthritis, Keratoconjun...	ORPHA:91138
Caroli Syndrome	Elevated hepatic transaminase, Hepatomegaly, Cholangiocarcinoma, Liver abscess, Cholangitis, Port...	ORPHA:480520
Gaisböck Syndrome	Hypertriglyceridemia, Overweight, Splenomegaly, Increased mean corpuscular hemoglobin concentrati...	ORPHA:90041
Short Stature-Advanced Bone Age-Early-Onset Osteoarthritis Syndrome	Short thumb, Osteoarthritis, Brachydactyly	ORPHA:435804
Osteoarthritis Susceptibility 2	Osteoarthritis, Heberden's node	OMIM:140600
Monosomy 22	Hepatosplenomegaly, Aplasia of the thymus, Hypochromic microcytic anemia, Seborrheic dermatitis	ORPHA:96123
Nephronophthisis 19	Hepatomegaly, Malformation of the hepatic ductal plate, Splenomegaly, Cholestasis, Bile duct prol...	OMIM:616217
Neutrophilic Dermatosis, Acute Febrile	Increased circulating interleukin 6 concentration, Elevated circulating C-reactive protein concen...	OMIM:608068
Histiocytosis-Lymphadenopathy Plus Syndrome	Episcleritis, Hepatomegaly, Short stature, Hypergonadotropic hypogonadism, Cardiomegaly, Retroper...	OMIM:602782
Reticular Dysgenesis	Congenital agranulocytosis, Impaired T cell function, Lack of T cell function, Leukopenia, Hypopl...	OMIM:267500
Ichthyosis, Congenital, Autosomal Recessive 1	Erythroderma	OMIM:242300
Immunodeficiency 87 And Autoimmunity	Atrophic gastritis, Hepatic steatosis, Decreased proportion of CD4-positive T cells, Hepatomegaly...	OMIM:619573
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy	Hepatomegaly, Vomiting, Decreased liver function, Diffuse hepatic steatosis, Failure to thrive	ORPHA:436271
Alkaptonuria	Joint dislocation, Joint stiffness, Cartilage destruction, Osteoarthritis, Reduced bone mineral d...	ORPHA:56
Obesity Due To Sim1 Deficiency	Obesity, Increased resting energy expenditure	ORPHA:369873
Rhizomelic Dysplasia, Ain-Naz Type	Short humerus, Short femur, Hypoplasia of the femoral head, Rhizomelia, Severe short stature, Wid...	OMIM:619598
Rat-Bite Fever	Abdominal aseptic abscess, Pericarditis, Maculopapular exanthema, Skin rash, Erythema nodosum, Ly...	ORPHA:31205
Harlequin Ichthyosis	Erythroderma	ORPHA:457
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome	Short humerus, Short metacarpal, Short stature, Eczema, Thrombocytopenia, Reticulocytopenia, Leuk...	ORPHA:508542
Multiple Endocrine Neoplasia Type 1	Hypercalcemia, Osteolysis, Increased susceptibility to fractures, Weight loss, Reduced bone miner...	ORPHA:652
Spinocerebellar Ataxia 34	Erythroderma	OMIM:133190
Congenital Pulmonary Lymphangiectasia	Splenomegaly, Hepatomegaly, Ascites, Growth delay	ORPHA:2414
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema	Hepatomegaly, Reticulocytosis, Splenomegaly, Jaundice, Increased mean corpuscular hemoglobin conc...	OMIM:194380
Familial Papillary Or Follicular Thyroid Carcinoma	Chronic noninfectious lymphadenopathy, Abnormal lymph node morphology	ORPHA:319487
Diarrhea 5, With Tufting Enteropathy, Congenital	Arthritis, Failure to thrive, Small for gestational age	OMIM:613217
Familial Papillary Thyroid Carcinoma With Renal Papillary Neoplasia	Chronic noninfectious lymphadenopathy, Abnormal lymph node morphology	ORPHA:97290
Cutaneous Mastocytoma	Pruritus, Maculopapular exanthema, Lymphadenopathy	ORPHA:79455
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay	Sideroblastic anemia, Splenomegaly, Schistocytosis, Hypochromic microcytic anemia, Decreased circ...	OMIM:616084
Dehydrated Hereditary Stomatocytosis	Hemolytic anemia, Reticulocytosis, Macrocytic anemia, Anemia of inadequate production, Increased ...	ORPHA:3202
Severe Hemophilia A	Limb joint contracture, Limitation of joint mobility, Synovitis, Joint swelling, Progressive join...	ORPHA:169802
Atypical Werner Syndrome	Sclerosis of hand bone, Increased bone mineral density, Hypertriglyceridemia, Failure to thrive, ...	ORPHA:79474
Sydenham Chorea	Septic arthritis, Endocarditis	ORPHA:306731
Dyskeratosis Congenita, Autosomal Dominant 1	Aplastic anemia, Thrombocytopenia, Osteoporosis, Leukopenia, Interstitial pneumonitis, Increased ...	OMIM:127550
Vitamin B12-Unresponsive Methylmalonic Acidemia	Hepatomegaly, Macrocytic anemia, Thrombocytopenia, Leukopenia, Pancreatitis, Anemia	ORPHA:27
Bloom Syndrome	Small for gestational age, Elevated hemoglobin A1c, Decreased fertility in females, Postnatal gro...	OMIM:210900
Galactokinase Deficiency	Hepatomegaly, Premature ovarian insufficiency, Small for gestational age, Hypergonadotropic hypog...	ORPHA:79237
Thrombocytopenia With Beta-Thalassemia, X-Linked	Hemolytic anemia, Reticulocytosis, Increased RBC distribution width, Increased mean platelet volu...	OMIM:314050
Waldenström Macroglobulinemia	Normocytic anemia, Hepatomegaly, Abnormality of neutrophils, Splenomegaly, Lymphadenopathy, Leuke...	ORPHA:33226
Congenital Disorder Of Glycosylation, Type Ig	Short humerus, Failure to thrive, Short femur, Sandal gap, Small for gestational age, Rhizomelia,...	OMIM:607143
22Q11.2 Deletion Syndrome	Acne, Impaired T cell function, Autoimmunity, Seborrheic dermatitis, Abnormality of the tonsils, ...	ORPHA:567
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome	Elevated hepatic transaminase, Hepatomegaly, Small for gestational age, Limb joint contracture, D...	ORPHA:404454
Herpes Simplex Virus Encephalitis	Hyponatremia, Leukocytosis, Neutrophilia, Elevated circulating C-reactive protein concentration	ORPHA:1930
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome	Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Cholestasis	ORPHA:59303
Immunodeficiency 10	Autoimmune hemolytic anemia, Thrombocytopenia, Lymphadenopathy	OMIM:612783
Hypopigmentation, Organomegaly, And Delayed Myelination And Development	Hepatomegaly, Short stature, Splenomegaly, Growth delay, Intrauterine growth retardation	OMIM:618541
Ataxia-Telangiectasia	Lymphopenia, Failure to thrive, Sinusitis, Short stature, Elevated circulating alpha-fetoprotein ...	OMIM:208900
Autosomal Dominant Otospondylomegaepiphyseal Dysplasia	Osteoarthritis, Abnormal metacarpal morphology	ORPHA:166100
Polymyositis	Pericarditis, Elevated circulating creatine kinase concentration, Weight loss, Arthritis, Chondro...	ORPHA:732
Igg4-Related Dacryoadenitis And Sialadenitis	Myositis, Autoimmunity, Increased circulating IgG4 level, Increased circulating IgA level, Antinu...	ORPHA:79078
Bathing Suit Ichthyosis	Erythroderma	ORPHA:100976
Hyperparathyroidism, Transient Neonatal	Osteopenia, Wide cranial sutures, Short femur, Metaphyseal spurs, Recurrent fractures, Femoral bo...	OMIM:618188
Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome	Arthritis, Mildly elevated creatine kinase	ORPHA:397744
X-Linked Severe Congenital Neutropenia	Monocytopenia, Neutropenia	ORPHA:86788
Ebola Hemorrhagic Fever	Acute pancreatitis, Maculopapular exanthema, Hepatitis, Leukopenia, Increased circulating antibod...	ORPHA:319218
Eosinophilic Granulomatosis With Polyangiitis	Increased inflammatory response, Myositis, Sinusitis, Skin rash, Eosinophilia, Myocarditis, Endoc...	ORPHA:183
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1	Hepatomegaly, Pancreatic fibrosis, Achilles tendon contracture, Hepatic fibrosis, Steatorrhea, Fa...	OMIM:616263
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7	Osteopenia, Thrombocytopenia, Lymphopenia, Anemia	OMIM:620365
Epidermodysplasia Verruciformis	Pustule, Recurrent skin infections, Seborrheic dermatitis	ORPHA:302
Granulomatous Slack Skin	Abnormal lymph node morphology	ORPHA:33111
Lipodystrophy Due To Peptidic Growth Factors Deficiency	Reduced subcutaneous adipose tissue, Lipoatrophy, Lipodystrophy, Cachexia, Flexion contracture, W...	ORPHA:1979
Dominant Beta-Thalassemia	Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, Failure to thr...	ORPHA:231226
Combined Oxidative Phosphorylation Deficiency 27	Microvesicular hepatic steatosis, Failure to thrive, Hyperammonemia	OMIM:616672
Monosomy 13Q34	Hematochezia, Hypercalcemia, Hepatic steatosis, Obesity	ORPHA:96168
Liver Disease, Severe Congenital	Chronic gastritis, Cardiomegaly, Biliary hyperplasia, Vomiting, Hypocalcemia, Elevated hepatic ir...	OMIM:619991
Combined Oxidative Phosphorylation Deficiency 37	Elevated hepatic transaminase, Bile duct proliferation, Macrovesicular hepatic steatosis, Decreas...	OMIM:618329
Combined Oxidative Phosphorylation Deficiency 11	Hepatomegaly, Hepatic steatosis, Decreased liver function	OMIM:614922
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis	Hepatomegaly, Hemolytic anemia, Reticulocytosis, Failure to thrive, Anisocytosis, Cardiomegaly, M...	OMIM:618278
Isolated Biliary Atresia	Elevated hepatic transaminase, Hepatomegaly, Small for gestational age, Pruritus, Atretic gallbla...	ORPHA:30391
Autosomal Dominant Spastic Paraplegia Type 36	Arthritis	ORPHA:320365
Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive	Epiphyseal dysplasia, Enlarged joints, Short stature, Large tarsal bones, Recurrent pneumonia, Fl...	OMIM:215150
Galactosemia I	Hepatomegaly, Hemolytic anemia, Premature ovarian insufficiency, Hypergonadotropic hypogonadism, ...	OMIM:230400
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea	Hepatomegaly, Mediastinal lymphadenopathy, Leukocytosis, Bronchiectasis, Cholestasis, Recurrent o...	OMIM:620233
Necrotizing Encephalomyelopathy, Subacute, Of Leigh, Adult	Proximal phalangeal periosteal thickening, Clubbing, Bone pain, Osteolytic defects of the phalang...	OMIM:161700
Immunodeficiency 13	Lymphopenia, Recurrent pneumonia, Decreased proportion of CD4-positive helper T cells, Bronchiect...	OMIM:615518
Atelosteogenesis Type I	Joint dislocation, Short femur, Rhizomelia, Abnormal ossification involving the femoral head and ...	ORPHA:1190
Autoimmune Hemolytic Anemia, Warm Type	Autoimmune hemolytic anemia, Autoimmunity, Splenomegaly, Jaundice, Systemic lupus erythematosus, ...	ORPHA:90033
Hereditary Elliptocytosis	Hemolytic anemia, Reticulocytosis, Abnormal erythrocyte morphology, Splenomegaly, Jaundice, Postn...	ORPHA:288
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis	Hepatomegaly, Portal hypertension, Pruritus, Splenomegaly, Jaundice, Cholestasis, Sclerosing chol...	OMIM:607626
Pseudoaminopterin Syndrome	Brachydactyly, Overlapping toe, Short stature, Postaxial polydactyly, Sagittal craniosynostosis, ...	ORPHA:221120
Icf Syndrome	Short stature, Abnormality of neutrophils, Decreased circulating antibody level, Lymphopenia, Anemia	ORPHA:2268
Seckel Syndrome 10	Acute pancreatitis, Hypertriglyceridemia, Elevated circulating aspartate aminotransferase concent...	OMIM:617253
Dengue Fever	Hepatomegaly, Skin rash, Pruritus, Leukopenia, Ascites, Thrombocytopenia	ORPHA:99828
Osteopetrosis, Autosomal Dominant 3	Splenomegaly, Hepatomegaly, Anemia	OMIM:618107
Digeorge Syndrome	Acne, Impaired T cell function, Short stature, Seborrheic dermatitis, Splenomegaly, Thrombocytope...	OMIM:188400
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form	Recurrent skin infections, Craniosynostosis, Decreased circulating antibody level, Growth delay, ...	ORPHA:79396
Amoebiasis Due To Entamoeba Histolytica	Liver abscess, Lung abscess, Leukocytosis, Weight loss, Anemia, Hypoalbuminemia, Constrictive per...	ORPHA:67
Aplasia Cutis Congenita With Intestinal Lymphangiectasia	Lymphopenia, Hypoproteinemia	OMIM:207731
Candidiasis, Familial, 8	Chronic oral candidiasis, Blepharitis, Cheilitis, Seborrheic dermatitis	OMIM:615527
Subcorneal Pustular Dermatosis	Autoimmunity, Rheumatoid arthritis, Systemic lupus erythematosus	ORPHA:48377
Riddle Syndrome	Short stature, Pneumonia, Elevated circulating alpha-fetoprotein concentration, Recurrent pneumon...	ORPHA:420741
Maternally-Inherited Diabetes And Deafness	Abnormal circulating lipid concentration, Constipation	ORPHA:225
Glycogen Storage Disease Xii	Normocytic anemia, Hepatomegaly, Short stature, Splenomegaly, Jaundice, Elevated circulating alan...	OMIM:611881
Pearson Syndrome	Elevated hepatic transaminase, Hepatomegaly, Pancreatic fibrosis, Small for gestational age, Sple...	ORPHA:699
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency	Hepatomegaly, Tubulointerstitial nephritis, Leukopenia, Neutropenia, Failure to thrive, Pancreati...	OMIM:251000
Moderate Hemophilia A	Arthropathy, Hip contracture, Cartilage destruction, Limitation of joint mobility, Synovitis, Joi...	ORPHA:169805
Chondrocalcinosis 2	Arthropathy, Polyarticular chondrocalcinosis, Osteoarthritis	OMIM:118600
Lujo Hemorrhagic Fever	Stiff neck, Skin rash, Maculopapular exanthema, Elevated circulating C-reactive protein concentra...	ORPHA:319213
Spondylosis, Cervical	Osteoarthritis, Spina bifida occulta	OMIM:184300
Pulmonary Non-Tuberculous Mycobacterial Infection	Weight loss, Bronchiectasis, Lymphadenopathy	ORPHA:411703
Osteopetrosis With Renal Tubular Acidosis	Pancytopenia, Short stature, Recurrent fractures, Elevated circulating creatine kinase concentrat...	ORPHA:2785
Klatskin Tumor	Hepatomegaly, Cholangiocarcinoma, Jaundice, Extrahepatic cholestasis, Lymphadenopathy, Weight loss	ORPHA:99978
Immunodeficiency 110 With Lymphoproliferation	Autoimmune hemolytic anemia, Recurrent skin infections, Recurrent pneumonia, Bronchiectasis, Chro...	OMIM:614868
Ichthyosis, Congenital, Autosomal Recessive 9	Erythroderma	OMIM:615023
Osteogenesis Imperfecta, Type Viii	Osteopenia, Joint laxity, Short metacarpal, Radial bowing, Wormian bones, Recurrent fractures, Fe...	OMIM:610915
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18	Elevated hepatic transaminase, Hepatomegaly, Elevated circulating creatine kinase concentration, ...	OMIM:615356
Intellectual Developmental Disorder, X-Linked, Syndromic, Snyder-Robinson Type	Hyperextensibility of the finger joints, Short stature, Recurrent fractures, Long fingers, Osteop...	OMIM:309583
Enthesitis-Related Juvenile Idiopathic Arthritis	Finger dactylitis, Abnormal metacarpophalangeal joint morphology, Anterior uveitis, Abnormal meta...	ORPHA:85438
Short Fifth Metacarpals-Insulin Resistance Syndrome	Splenomegaly, Spherocytosis, Short stature	ORPHA:66518
Stickler Syndrome, Type I	Arthropathy, Arachnodactyly, Joint stiffness, Irregular femoral epiphysis, Osteoarthritis, Arthri...	OMIM:108300
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency	Reticulocytosis, Anisocytosis, Splenomegaly, Jaundice, Leukocytosis, Poikilocytosis, Prolonged ne...	OMIM:300908
Idiopathic Steroid-Resistant Nephrotic Syndrome	Hypertriglyceridemia, Minimal change glomerulonephritis, Peritonitis, Hypoalbuminemia, Hyperchole...	ORPHA:567548
Crimean-Congo Hemorrhagic Fever	Increased circulating IgG level, Leukopenia, Conjunctivitis, Cholecystitis, Morbilliform rash, He...	ORPHA:99827
New-Onset Refractory Status Epilepticus	Abnormal circulating interleukin concentration, Infectious encephalitis	ORPHA:363558
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts	Increased circulating ferritin concentration, Reticulocytopenia, Anisopoikilocytosis, Hepatosplen...	ORPHA:300298
Osteopetrosis, Autosomal Recessive 3	Extramedullary hematopoiesis, Short stature, Cranial hyperostosis, Diaphyseal sclerosis, Hepatosp...	OMIM:259730
Ehlers-Danlos Syndrome, Hypermobility Type	Joint laxity, Osteoarthritis, Joint dislocation, Joint hypermobility	OMIM:130020
Hemochromatosis, Type 5	Increased circulating ferritin concentration, Elevated transferrin saturation, Abnormal circulati...	OMIM:615517
Microcephalic Osteodysplastic Primordial Dwarfism, Type I	Micromelia, Delayed epiphyseal ossification, Flexion contracture, Preaxial polydactyly, Femoral b...	OMIM:210710
Postinfectious Vasculitis	Abnormal circulating protein concentration, Viral hepatitis, Inflammatory abnormality of the skin...	ORPHA:48435
Beta-Thalassemia Major	Hepatomegaly, Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, ...	ORPHA:231214
Mitochondrial Trifunctional Protein Deficiency	Failure to thrive in infancy, Cholestasis, Hypocalcemia, Left ventricular hypertrophy, Diffuse he...	ORPHA:746
Dyskeratosis Congenita	Short stature, Recurrent fractures, Abnormality of neutrophils, Thrombocytopenia, Splenomegaly, O...	ORPHA:1775
Congenital Pseudoarthrosis Of The Clavicle	Congenital pseudoarthrosis of the clavicle, Osteoarthritis	ORPHA:66630
Short Stature, Microcephaly, And Endocrine Dysfunction	Lymphopenia, Short stature, Truncal obesity, Disproportionate short-limb short stature, Limb unde...	OMIM:616541
Vertical Talus, Congenital	Arthritis, Calcaneovalgus deformity, Rocker bottom foot, Equinus calcaneus	OMIM:192950
Wiskott-Aldrich Syndrome	Abnormal delayed hypersensitivity skin test, Iron deficiency anemia, Inflammation of the large in...	OMIM:301000
Familial Pancreatic Carcinoma	Elevated hepatic transaminase, Pancreatic adenocarcinoma, Jaundice, Extrahepatic cholestasis, Hep...	ORPHA:1333
Vici Syndrome	Decreased circulating IgG level, Lymphopenia, Failure to thrive, Elevated circulating creatine ki...	OMIM:242840
Erythrocytosis, Familial, 1	Increased red blood cell mass, Splenomegaly, Increased hematocrit, Increased hemoglobin	OMIM:133100
Thanatophoric Dysplasia Type 1	Bowing of the long bones, Short femur, Micromelia, Joint stiffness, Hypoplastic ilia, Wide anteri...	ORPHA:1860
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease	Elevated hepatic transaminase, Jaundice, Aplasia/Hypoplasia of the pancreas, Abnormality of exocr...	ORPHA:93111
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 6	Pancytopenia, Decreased circulating antibody level, Bone marrow hypocellularity, Abnormally low T...	OMIM:619767
Igg4-Related Ophthalmic Disease	Sinusitis, Cholangitis, Increased circulating IgG4 level, Eosinophilia, Keratitis, Orchitis, Anti...	ORPHA:449563
Hemihyperplasia-Multiple Lipomatosis Syndrome	Hydrocele testis, Abnormality of the lymphatic system, Enlarged kidney, Seborrheic dermatitis	ORPHA:276280
Bullous Impetigo	Pustule, Recurrent bacterial skin infections, Septic arthritis	ORPHA:36237
Meningococcal Meningitis	Skin rash, Stiff neck, Infectious encephalitis, Elevated circulating C-reactive protein concentra...	ORPHA:33475
Hyperparathyroidism, Neonatal Severe	Calcinosis, Hypercalcemia, Recurrent fractures, Splenomegaly, Anemia, Hypophosphatemia, Failure t...	OMIM:239200
Mandibuloacral Dysplasia Progeroid Syndrome	Osteopenia, Hypertriglyceridemia, Sandal gap, Elevated hemoglobin A1c, Delayed cranial suture clo...	OMIM:619127
Spondyloepiphyseal Dysplasia Tarda, X-Linked	Hypoplastic iliac wing, Postnatal growth retardation, Limitation of joint mobility, Disproportion...	OMIM:313400
Ichthyosis, Congenital, Autosomal Recessive 6	Erythroderma	OMIM:612281
Japanese Encephalitis	Hyponatremia, Stiff neck, Neutrophilia, Genu recurvatum, Elbow flexion contracture, Increased cir...	ORPHA:79139
Weill-Marchesani Syndrome 1	Short stature, Proportionate short stature, Joint stiffness, Broad metatarsal, Broad phalanges of...	OMIM:277600
Erythrocytosis, Familial, 8	Splenomegaly, Increased hematocrit, Polycythemia, Increased hemoglobin	OMIM:222800
Mucopolysaccharidosis Type 6	Sinusitis, Splenomegaly, Disproportionate short-trunk short stature, Chronic otitis media, Failur...	ORPHA:583
Thyroid Lymphoma	Hashimoto thyroiditis, Lymphadenopathy	ORPHA:97285
Whim Syndrome	Sinusitis, Severe periodontitis, Pneumonia, Lymphadenitis, Recurrent pneumonia, Bronchiectasis, A...	ORPHA:51636
Familial Mediterranean Fever	Acute hepatic failure, Pericarditis, Skin rash, Orchitis, Splenomegaly, Osteoarthritis, Peritonit...	ORPHA:342
Fanconi Anemia, Complementation Group C	Pancytopenia, Small for gestational age, Short stature, Absent thumb, Absent radius, Short thumb,...	OMIM:227645
Purine Nucleoside Phosphorylase Deficiency	Autoimmune hemolytic anemia, Hypouricemia, Autoimmune thrombocytopenia, Abnormal T cell morpholog...	ORPHA:760
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria	Elevated hepatic transaminase, Hepatomegaly, Methylmalonic acidemia, Flexion contracture, Vomitin...	ORPHA:17
Atelosteogenesis, Type I	Short metatarsal, Tibial bowing, Knee dislocation, Neonatal death, Short metacarpal, Radial bowin...	OMIM:108720
Gray Platelet Syndrome	Impaired thrombin-induced platelet aggregation, Abnormal number of alpha granules, Splenomegaly, ...	OMIM:139090
Femoral-Facial Syndrome	Short femur, Short stature, Abnormal fibula morphology, Coxa vara, Abnormal pelvic girdle bone mo...	ORPHA:1988
Aicardi-Goutières Syndrome	Myositis, Multiple joint contractures, Short stature, Chilblains, Neonatal alloimmune thrombocyto...	ORPHA:51
Spondyloocular Syndrome	Long toe, Osteopenia, Overlapping toe, Arachnodactyly, Femur fracture, Short stature, Long finger...	OMIM:605822
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 2	Acne, Seborrheic dermatitis	OMIM:614441
Mitochondrial Complex I Deficiency, Nuclear Type 20	Elevated hepatic transaminase, Microvesicular hepatic steatosis, Hepatic failure	OMIM:611126
Congenital Disorder Of Glycosylation, Type Iiw	Elevated hepatic transaminase, Hepatomegaly, Inguinal hernia, Membranoproliferative glomeruloneph...	OMIM:619525
Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, And Migraine Headache Syndrome	Splenomegaly, Pancytopenia	OMIM:614979
Melkersson-Rosenthal Syndrome	Inflammatory abnormality of the skin, Cheilitis, Lymphadenopathy	ORPHA:2483
Chondrocalcinosis 1	Osteoarthritis, Chondrocalcinosis	OMIM:600668
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism	Hepatomegaly, Portal hypertension, Pancreatic cysts, Splenomegaly, Anti-thyroid peroxidase antibo...	OMIM:610199
Reni Syndrome	Lymphopenia, Hypertriglyceridemia, Hypoalbuminemia	OMIM:617575
Vascular Ehlers-Danlos Syndrome	Joint dislocation, Congenital hip dislocation, Short stature, Osteoarthritis, Osteolysis, Joint h...	ORPHA:286
Car T Cell Therapy-Associated Cytokine Release Syndrome	Elevated hepatic transaminase, Increased inflammatory response, Increased circulating interleukin...	ORPHA:542323
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis	Abnormally low T cell receptor excision circle level, Macrocytic anemia, Neutrophilia, Impaired n...	OMIM:608203
Mogs-Cdg	Hepatomegaly, Cardiomegaly, Decreased circulating antibody level, Hepatosplenomegaly, Decreased c...	ORPHA:79330
Complement Component 5 Deficiency	Generalized seborrheic dermatitis	OMIM:609536
Agammaglobulinemia 1, Autosomal Recessive	Recurrent pneumonia, Neutropenia, Bronchiectasis, Decreased circulating antibody level, Agammaglo...	OMIM:601495
Weill-Marchesani Syndrome 2	Short metacarpal, Thin bony cortex, Short stature, Proportionate short stature, Joint stiffness, ...	OMIM:608328
Cardiomyopathy-Cataract-Hip Spine Disease Syndrome	Osteoarthritis, Avascular necrosis, Joint stiffness	ORPHA:1345
Cholestasis, Benign Recurrent Intrahepatic, 1	Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Pruritus, Intermittent jaundice, P...	OMIM:243300
Juvenile Dermatomyositis	Calcinosis, Myositis, Pericarditis, Skin rash, Elevated circulating creatine kinase concentration...	ORPHA:93672
Nephroblastoma	Neoplasm of the liver, Weight loss, Lymphadenopathy	ORPHA:654
Rift Valley Fever	Skin rash, Thrombocytopenia, Hepatitis, Uveitis, Increased circulating IgG level, Increased circu...	ORPHA:319251
Achondroplasia	Brachydactyly, Radial bowing, Short femur, Limited hip extension, Rhizomelia, Bowing of the legs,...	OMIM:100800
Overhydrated Hereditary Stomatocytosis	Hepatomegaly, Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Stomatocytosis, Increase...	OMIM:185000
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)	Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Failure to thrive, Microvesic...	OMIM:203700
Overhydrated Hereditary Stomatocytosis	Hemolytic anemia, Reticulocytosis, Decreased mean corpuscular hemoglobin concentration, Anisocyto...	ORPHA:3203
3-Methylglutaconic Aciduria, Type Viib	Flexion contracture, Recurrent pneumonia, Hepatic steatosis	OMIM:616271
Acquired Hypertrichosis Lanuginosa	Weight loss, Lymphadenopathy	ORPHA:2221
Tubulointerstitial Kidney Disease, Autosomal Dominant, 1	Nephritis, Hyperuricemia, Gout	OMIM:162000
Spondyloepiphyseal Dysplasia Tarda, Autosomal Dominant	Avascular necrosis of the capital femoral epiphysis, Childhood-onset short-trunk short stature, A...	OMIM:184100
Polycythemia Vera	Hepatomegaly, Portal hypertension, Pruritus, Portal vein thrombosis, Splenomegaly, Acute leukemia...	ORPHA:729
Atelosteogenesis Type Ii	Micromelia, Short phalanx of finger, Broad metacarpals, Ulnar deviation of the hand or of fingers...	ORPHA:56304
Scheie Syndrome	Splenomegaly, Hepatomegaly, Rhinitis	ORPHA:93474
Gaucher Disease, Type I	Hepatomegaly, Pancytopenia, Hypersplenism, Splenomegaly, Anemia, Thrombocytopenia	OMIM:230800
Sarcoidosis	Increased T cell count, Uveitis, Tubulointerstitial nephritis, Leukopenia, Hepatomegaly, Hemolyti...	ORPHA:797
Tibial Aplasia-Ectrodactyly Syndrome	Finger syndactyly, Short femur, Preaxial hand polydactyly, Postaxial hand polydactyly, Split hand...	ORPHA:3329
Malt Lymphoma	Mediastinal lymphadenopathy, Weight loss, Lymphadenopathy, Posterior uveitis, Anemia	ORPHA:52417
Behçet Disease	Increased inflammatory response, Myositis, Pericarditis, Acne, Orchitis, Retrobulbar optic neurit...	ORPHA:117
Lowe Oculocerebrorenal Syndrome	Short stature, Camptodactyly of finger, Elevated circulating creatine kinase concentration, Eleva...	OMIM:309000
Immunodeficiency 49	Impaired lymphocyte transformation with phytohemagglutinin, Psoriasiform dermatitis, Eosinophilia...	OMIM:617237
3-Methylglutaconic Aciduria Type 7	Elevated hepatic transaminase, Hepatic steatosis	ORPHA:445038
Thrombocytopenia, Anemia, And Myelofibrosis	Myelofibrosis, Splenomegaly, Thrombocytopenia, Anisopoikilocytosis, Anemia	OMIM:617441
Mitochondrial Complex Iii Deficiency, Nuclear Type 1	Elevated hepatic transaminase, Hypertyrosinemia, Cholangitis, Microvesicular hepatic steatosis, C...	OMIM:124000
Wiedemann-Rautenstrauch Syndrome	Osteopenia, Long toe, Short stature, 2-3 toe syndactyly, Widely patent fontanelles and sutures, S...	ORPHA:3455
Seborrhea-Like Dermatitis With Psoriasiform Elements	Seborrheic dermatitis	OMIM:610227
Spherocytosis, Type 1	Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Cholelithiasis	OMIM:182900
Ehlers-Danlos Syndrome, Classic Type, 1	Joint dislocation, Hyperextensibility of the finger joints, Short stature, Hyperextensibility of ...	OMIM:130000
Mitochondrial Complex Iv Deficiency, Nuclear Type 1	Hepatomegaly, Decreased liver function, Increased intramyocellular lipid droplets, Increased hepa...	OMIM:220110
Aspartylglucosaminuria	Abnormal morphology of ulna, Joint stiffness, Splenomegaly, Delayed skeletal maturation, Arthriti...	ORPHA:93
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome	Short stature, Abnormal hemoglobin, Joint stiffness, Flexion contracture, Talipes equinovarus, Cl...	ORPHA:847
Paget Disease Of Bone 6	Osteoarthritis, Bone pain, Recurrent fractures	OMIM:616833
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant	Hemolytic anemia, Increased mean platelet volume, Impaired ristocetin-induced platelet aggregatio...	OMIM:153670
Lymphatic Filariasis	Glomerulonephritis, Orchitis, Lymphadenitis, Knee osteoarthritis, Epididymitis, Abnormality of th...	ORPHA:2035
Aromatase Deficiency	Eunuchoid habitus, Enlarged polycystic ovaries, Hyperlipidemia, Obesity, Hepatic steatosis	ORPHA:91
Spherocytosis, Type 4	Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis	OMIM:612653
Stickler Syndrome	Joint dislocation, Arachnodactyly, Protrusio acetabuli, Cachexia, Short stature, Osteoarthritis, ...	ORPHA:828
Faciocardiomelic Syndrome	Osteopenia, Dysharmonic bone age, Large for gestational age, Slender long bone, Polydactyly, Hypo...	OMIM:612731
Yao Syndrome	Inflammatory abnormality of the skin, Pericarditis, Skin rash, Weight loss, Arthritis, Keratoconj...	OMIM:617321
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2	Elevated circulating creatinine concentration, Gout, Tubulointerstitial nephritis, Hyperuricemia,...	OMIM:174000
Renal-Hepatic-Pancreatic Dysplasia 1	Hepatomegaly, Pancreatic fibrosis, Malformation of the hepatic ductal plate, Portal hypertension,...	OMIM:208540
Pelviscapular Dysplasia	Congenital hip dislocation, Short femur, Hypoplastic scapulae, Short stature, Hypoplastic ilia, H...	ORPHA:93333
Spherocytosis, Type 2	Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Jaundice, Spherocytosis	OMIM:616649
Niemann-Pick Disease, Type C1	Hepatomegaly, Fatal liver failure in infancy, Fetal ascites, Bone-marrow foam cells, Splenomegaly...	OMIM:257220
Ischiocoxopodopatellar Syndrome With Or Without Pulmonary Arterial Hypertension	Wide capital femoral epiphyses, Short femur, Sandal gap, Tarsal synostosis, Short stature, Flat c...	OMIM:147891
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2	Hepatomegaly, Seborrheic dermatitis, Large for gestational age, Microvesicular hepatic steatosis,...	OMIM:300868
Glycogen Storage Disease Ic	Cyclic neutropenia, Chronic pancreatitis, Hyperlipidemia, Gout, Inflammation of the large intesti...	OMIM:232240
Familial Cold Urticaria	Arthritis, Conjunctivitis	ORPHA:47045
Pearson Marrow-Pancreas Syndrome	Sideroblastic anemia, Pancytopenia, Small for gestational age, Refractory sideroblastic anemia, T...	OMIM:557000
Severe Generalized Junctional Epidermolysis Bullosa	Recurrent skin infections, Pneumonia, Abnormal fingertip morphology, Osteoporosis, Abnormal blood...	ORPHA:79404
Hutchinson-Gilford Progeria Syndrome	Limitation of movement at ankles, Coxa valga, Joint stiffness, Limited wrist movement, Osteoarthr...	ORPHA:740
Triosephosphate Isomerase Deficiency	Normocytic anemia, Hemolytic anemia, Macrocytic anemia, Failure to thrive, Splenomegaly, Jaundice...	OMIM:615512
Drug-Induced Autoimmune Hemolytic Anemia	Splenomegaly, Autoimmune hemolytic anemia	ORPHA:90037
3-Methylcrotonyl-Coa Carboxylase 2 Deficiency	Failure to thrive, Seborrheic dermatitis	OMIM:210210
Osteoarthritis Susceptibility 1	Hip osteoarthritis	OMIM:165720
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form	Osteopenia, Recurrent skin infections, Glomerulonephritis, Foot joint contracture, Flexion contra...	ORPHA:79408
Medullary Thyroid Carcinoma	Weight loss, Lymphadenopathy, Abnormal liver parenchyma morphology	ORPHA:1332
Gaucher Disease, Type Ii	Hepatomegaly, Splenomegaly, Anemia, Failure to thrive, Recurrent aspiration pneumonia, Thrombocyt...	OMIM:230900
Craniotubular Dysplasia, Ikegawa Type	Metaphyseal dysplasia, Thin bony cortex, Short stature, Broad ischia, Diaphyseal dysplasia, Scler...	OMIM:619727
Acute Interstitial Pneumonia	Reduced hematocrit, Bronchiectasis, Lymphadenopathy	ORPHA:79126
Blau Syndrome	Pericarditis, Skin rash, Camptodactyly of finger, Keratitis, Retrobulbar optic neuritis, Erythema...	ORPHA:90340
Ameloonychohypohidrotic Syndrome	Seborrheic dermatitis	OMIM:104570
Khan-Khan-Katsanis Syndrome	Lymphopenia, Short stature, Postaxial polydactyly, Delayed closure of the anterior fontanelle, Cl...	OMIM:618460
Idiopathic Camptocormia	Myositis, Elevated circulating creatine kinase concentration, Osteoarthritis, Abnormal inflammato...	ORPHA:1320
Familial Tumoral Calcinosis	Splenomegaly, Hepatomegaly, Skin rash	ORPHA:53715
Dilated Cardiomyopathy With Ataxia	Elevated hepatic transaminase, Microvesicular hepatic steatosis, Elevated circulating glutaric ac...	ORPHA:66634
Lyme Disease	Arthritis, Infectious encephalitis, Joint swelling, Uveitis	ORPHA:91546
Severe Phosphoribosylpyrophosphate Synthetase Superactivity	Arthritis, Hyperuricemia, Gout	ORPHA:411543
Renal-Hepatic-Pancreatic Dysplasia 2	Hepatomegaly, Malformation of the hepatic ductal plate, Asplenia, Cholestasis, Hepatic fibrosis, ...	OMIM:615415
Lethal Kniest-Like Dysplasia	Abnormal ischium morphology, Broad long bones, Mesomelic/rhizomelic limb shortening, Hypoplastic ...	ORPHA:2347
Tyrosinemia, Type I	Hypertyrosinemia, Elevated circulating alpha-fetoprotein concentration, Splenomegaly, Growth dela...	OMIM:276700
Hardikar Syndrome	Intrahepatic bile duct cysts, Cholangitis, Hepatic fibrosis, Intrahepatic bile duct dilatation, H...	OMIM:301068
Hypoplastic Femurs And Pelvis	Short femur, Hypoplastic pelvis	OMIM:619545
Systemic Lupus Erythematosus, Susceptibility To, 6	Arthritis, Pericarditis, Malar rash	OMIM:609939
Bronchial Neuroendocrine Tumor	Hepatomegaly, Chronic noninfectious lymphadenopathy, Pneumonia, Weight loss, Hepatic failure	ORPHA:97287
Centrifugal Lipodystrophy	Lymphadenitis, Inflammatory abnormality of the skin	ORPHA:90156
Cowden Syndrome 1	Lymphopenia, Thyroiditis, Decreased circulating antibody level	OMIM:158350
Cryohydrocytosis	Splenomegaly, Hemolytic anemia, Stomatocytosis, Reticulocytosis	OMIM:185020
Gallbladder Neuroendocrine Tumor	Chronic noninfectious lymphadenopathy, Biliary tract neoplasm, Extrahepatic cholestasis, Intermit...	ORPHA:100086
Secondary Intestinal Lymphangiectasia	Lymphopenia, Decreased circulating IgG1 level, Reduced circulating transferrin concentration, Dec...	ORPHA:90363
Hereditary Xanthinuria	Arthropathy, Hypouricemia, Hyperxanthinemia, Gout, Rheumatoid arthritis	ORPHA:3467
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects	Hepatomegaly, Hemolytic anemia, Short stature, Splenomegaly, Jaundice, Growth delay, Stomatocytosis	OMIM:608885
Apolipoprotein C-Ii Deficiency	Splenomegaly, Hepatomegaly, Pancreatitis	OMIM:207750
Kawasaki Disease	Pericarditis, Skin rash, Myocarditis, Jaundice, Cervical lymphadenopathy, Leukocytosis, Hepatitis...	ORPHA:2331
Noonan Syndrome 1	Amegakaryocytic thrombocytopenia, Juvenile myelomonocytic leukemia, Failure to thrive in infancy,...	OMIM:163950
Interstitial Granulomatous Dermatitis With Arthritis	Pruritus, Inflammatory abnormality of the skin, Rheumatoid factor positive, Rheumatoid arthritis	ORPHA:79099
Hypertrophic Osteoarthropathy, Primary, Autosomal Dominant	Acne, Seborrheic dermatitis	OMIM:167100
Hereditary Orotic Aciduria	Splenomegaly, Impaired T cell function, Anemia	ORPHA:30
Acute Radiation Syndrome	Inflammatory abnormality of the skin, Interstitial pneumonitis, Granulocytopenia, Lymphopenia, Th...	ORPHA:454831
Anaplastic Thyroid Carcinoma	Weight loss, Lymphadenopathy	ORPHA:142
Primary Triglyceride Deposit Cardiomyovasculopathy	Hepatomegaly, Inflammatory abnormality of the skin, Splenomegaly, Vacuolated lymphocytes, Pancrea...	ORPHA:565612
Intellectual Disability-Seizures-Macrocephaly-Obesity Syndrome	Obesity, Failure to thrive, Eczema, Seborrheic dermatitis	ORPHA:369950
Familial Cervical Artery Dissection	Abnormal circulating lipid concentration, Abnormality of connective tissue	ORPHA:36382
Smith-Lemli-Opitz Syndrome	Hepatomegaly, Eczema, Splenomegaly, Cholestatic liver disease, Vomiting, Gastroesophageal reflux,...	OMIM:270400
Primary Hepatic Neuroendocrine Carcinoma	Elevated hepatic transaminase, Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Chr...	ORPHA:100085
Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development	Hypoplasia of the ulna, Short femur, Short stature, Absent thumb, Delayed skeletal maturation, Fi...	OMIM:612447
Ectodermal Dysplasia And Immunodeficiency 2	Splenomegaly, Hepatomegaly, Defective production of NFKB1-dependent cytokines, Failure to thrive	OMIM:612132
Mild Phosphoribosylpyrophosphate Synthetase Superactivity	Arthritis, Hyperuricemia	ORPHA:411536
Intellectual Developmental Disorder, Autosomal Dominant 68	Gastroesophageal reflux, Constipation, Hepatic steatosis, Joint contracture of the 5th finger	OMIM:619934
Squamous Cell Carcinoma Of The Anal Canal	Neoplasm of the liver, Lymphadenopathy	ORPHA:424019
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 10	Osteoarthritis, Bronchiectasis, Joint hypermobility	OMIM:620080
Microscopic Polyangiitis	Episcleritis, Increased inflammatory response, Pericarditis, Sinusitis, Skin rash, Peritonitis, U...	ORPHA:727
Yellow Fever	Acute pancreatitis, Increased circulating interleukin 6 concentration, Skin rash, Elevated circul...	ORPHA:99829
Juvenile Polyposis Syndrome	Clubbing, Hypokalemia, Hypoalbuminemia, Failure to thrive, Anemia	OMIM:174900
Cushing Syndrome Due To Ectopic Acth Secretion	Pancreatic adenocarcinoma, Acne, Pancreatoblastoma, Neoplasm of the thymus, Leukocytosis, Increas...	ORPHA:99889
Pyomyositis	Recurrent cutaneous abscess formation, Myositis, Leukocytosis, Weight loss, Testicular teratoma	ORPHA:764
Stiff Skin Syndrome	Abnormal circulating lipid concentration, Lipoatrophy	ORPHA:2833
Psoriasis 1, Susceptibility To	Arthritis, Psoriasiform dermatitis	OMIM:177900
Neurodegeneration And Seizures Due To Copper Transport Defect	Short femur, Abnormal circulating ceruloplasmin concentration, Talipes equinovarus, Abnormal circ...	OMIM:620306
Myelofibrosis	Splenomegaly, Myeloproliferative disorder	OMIM:254450
Autosomal Recessive Polycystic Kidney Disease	Cholangiocarcinoma, Cholangitis, Portal hypertension, Biliary hyperplasia, Congenital hepatic fib...	ORPHA:731
Rheumatic Fever	Pericarditis, Sinusitis, Myocarditis, Endocarditis, Arthritis	ORPHA:3099
Cushing Disease	Acne, Leukocytosis, Osteoporosis, Increased body weight, Recurrent cutaneous fungal infections, A...	ORPHA:96253
Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome	Hypoplastic scapulae, Short femur, Rhizomelia, Dumbbell-shaped long bone, Micromelia, Metaphyseal...	ORPHA:440354
Malakoplakia	Inflammatory abnormality of the skin, Skin rash, Follicular hyperplasia, Orchitis, Urinary bladde...	ORPHA:556
Cystic Fibrosis	Male infertility, Hepatomegaly, Recurrent pneumonia, Bronchiectasis, Biliary cirrhosis, Hepatospl...	OMIM:219700
Adiposis Dolorosa	Arthritis, Recurrent skin infections, Obesity	ORPHA:36397
Loeys-Dietz Syndrome 5	Arachnodactyly, Failure to thrive in infancy, Eosinophilic infiltration of the esophagus, Short s...	OMIM:615582
Elliptocytosis 1	Splenomegaly, Jaundice, Hemolytic anemia, Elliptocytosis	OMIM:611804
Thymic Neuroendocrine Tumor	Chronic noninfectious lymphadenopathy, Pancreatic islet cell adenoma, Neoplasm of the thymus, Med...	ORPHA:97289
Reynolds Syndrome	Skin rash, Arthritis, Keratoconjunctivitis sicca, Infectious encephalitis	ORPHA:779
Neuroendocrine Tumor Of The Colon	Elevated hepatic transaminase, Hepatomegaly, Chronic noninfectious lymphadenopathy, Weight loss	ORPHA:100080
Cutaneous Neuroendocrine Carcinoma	Lymphoid leukemia, Chronic noninfectious lymphadenopathy	ORPHA:79140
Kyphomelic Dysplasia	Short humerus, Short metacarpal, Radial bowing, Short femur, Bowed humerus, Micromelia, Ulnar bow...	OMIM:211350
Chronic Visceral Acid Sphingomyelinase Deficiency	Hepatomegaly, Short stature, Autoimmune thrombocytopenia, Hypersplenism, Splenomegaly, Systemic l...	ORPHA:77293
Mucopolysaccharidosis Type 2	Short stature, Splenomegaly, Limitation of joint mobility, Abnormal epiphyseal ossification, Cont...	ORPHA:580
Giant Cell Arteritis	Pericarditis, Abnormality of thrombocytes, Joint stiffness, Weight loss, Arthritis	ORPHA:397
Aneurysm-Osteoarthritis Syndrome	Joint laxity, Osteoarthritis of the small joints of the hand, Arachnodactyly, Camptodactyly of fi...	ORPHA:284984
Thrombocytopenia 1	Eczema, Increased circulating IgA level, Increased circulating IgE level, Decreased mean platelet...	OMIM:313900
Hereditary Chronic Pancreatitis	Leukocytosis, Jaundice, Recurrent pancreatitis, Pancreatic calcification	ORPHA:676
Arima Syndrome	Hepatic steatosis, Hepatic fibrosis, Cirrhosis, Hepatomegaly	OMIM:243910
Gitelman Syndrome	Delayed puberty, Hypermagnesemia, Gout, Tubulointerstitial nephritis, Hypokalemia, Iron deficienc...	ORPHA:358
Plague	Chapped lip, Hepatomegaly, Skin rash, Erythema nodosum, Lymphadenitis, Splenomegaly, Enterocoliti...	ORPHA:707
Alexander Disease	Osteopenia, Failure to thrive, Infectious encephalitis	ORPHA:58
Blau Syndrome	Nongranulomatous uveitis, Pericarditis, Eczema, Camptodactyly of finger, Erythema nodosum, Uveiti...	OMIM:186580
Relapsing Polychondritis	Episcleritis, Pericarditis, Chondritis of pinna, Keratitis, Myocarditis, Limitation of joint mobi...	ORPHA:728
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease	Hepatomegaly, Portal hypertension, Pancreatic cysts, Splenomegaly, Periportal fibrosis, Hepatic f...	OMIM:263200
Gastrointestinal Defects And Immunodeficiency Syndrome 2	Bronchiectasis, Knee flexion contracture, Inflammation of the large intestine, Bilateral talipes ...	OMIM:619708
Phosphoribosylpyrophosphate Synthetase Superactivity	Short stature, Small for gestational age, Hyperuricemia, Gout	OMIM:300661
Hyperlipoproteinemia, Type I	Splenomegaly, Jaundice, Pancreatitis, Hepatosplenomegaly	OMIM:238600
African Trypanosomiasis	Hepatomegaly, Pericarditis, Abnormality of the menstrual cycle, Keratitis, Myocarditis, Pruritus,...	ORPHA:3385
Congenital Tufting Enteropathy	Arthritis, Punctate keratitis, Failure to thrive, Weight loss	ORPHA:92050
Marshall Syndrome	Osteoarthritis, Short stature, Genu valgum	ORPHA:560
Dowling-Degos Disease	Arthritis, Acne inversa	ORPHA:79145
Alkaptonuria	Arthropathy, Vertebral fusion, Limited shoulder movement, Arthritis, Limited hip movement, Limita...	OMIM:203500
Neuroendocrine Tumor Of Stomach	Elevated hepatic transaminase, Hepatomegaly, Chronic noninfectious lymphadenopathy, Weight loss, ...	ORPHA:100075
Leptospirosis	Hepatomegaly, Pericarditis, Skin rash, Jaundice, Hepatitis, Uveitis, Lymphadenopathy, Optic neuri...	ORPHA:509
Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency	Elevated circulating creatinine concentration, Hyperuricemia, Gout	ORPHA:79233
Pancreatoblastoma	Jaundice, Weight loss, Pancreatic calcification, Abnormal lymph node morphology	ORPHA:677
L-2-Hydroxyglutaric Aciduria	Infectious encephalitis	ORPHA:79314
Neuroendocrine Tumor Of The Rectum	Elevated hepatic transaminase, Hepatomegaly, Chronic noninfectious lymphadenopathy, Weight loss	ORPHA:100081
Neuroendocrine Tumor Of Anal Canal	Elevated hepatic transaminase, Hepatomegaly, Chronic noninfectious lymphadenopathy, Weight loss	ORPHA:100082
Medullary cystic kidney disease 2	Tubulointerstitial nephritis, Hyperuricemia, Gout	OMIM:603860
Aortic Aneurysm, Familial Thoracic 12	Arthritis	OMIM:619825
Mucopolysaccharidosis Type 2, Severe Form	Short stature, Camptodactyly of finger, Splenomegaly, Flexion contracture, Limitation of joint mo...	ORPHA:217085
Choreoacanthocytosis	Elevated circulating creatine kinase concentration, Acanthocytosis, Abnormal erythrocyte enzyme l...	ORPHA:2388
Ogden Syndrome	Inguinal hernia, Eczema, Cardiomegaly, Microvesicular hepatic steatosis, Jaundice, Diarrhea, Vomi...	OMIM:300855
Mucopolysaccharidosis Type 2, Attenuated Form	Short stature, Camptodactyly of finger, Splenomegaly, Flexion contracture, Limitation of joint mo...	ORPHA:217093
Turner Syndrome Due To Structural X Chromosome Anomalies	Elevated hepatic transaminase, Failure to thrive in infancy, Biliary cirrhosis, Thyroiditis, Gast...	ORPHA:99413
Mosaic Monosomy X	Elevated hepatic transaminase, Failure to thrive in infancy, Biliary cirrhosis, Thyroiditis, Gast...	ORPHA:99228
Monosomy X	Elevated hepatic transaminase, Failure to thrive in infancy, Biliary cirrhosis, Thyroiditis, Gast...	ORPHA:99226
Turner Syndrome	Elevated hepatic transaminase, Failure to thrive in infancy, Biliary cirrhosis, Thyroiditis, Gast...	ORPHA:881
Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis	Short femur, Short stature, Joint hypermobility, Elliptocytosis, Talipes equinovarus, Broad dista...	OMIM:300990
Pulmonary Capillary Hemangiomatosis	Antinuclear antibody positivity, Cytoplasmic antineutrophil antibody positivity, Mediastinal lymp...	ORPHA:199241
Wiedemann-Rautenstrauch Syndrome	Long toe, Short humerus, Short femur, Hypertriglyceridemia, Pneumonia, Small for gestational age,...	OMIM:264090
Gaucher Disease, Type Iiic	Splenomegaly, Hepatomegaly, Pancytopenia, Cardiomegaly	OMIM:231005
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies	Fetal ascites, Flexion contracture, Knee flexion contracture, Hypocalcemia, Chronic otitis media,...	OMIM:619503
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies	Azotemia, Abdominal obesity, Flexion contracture, Hepatic steatosis	OMIM:619321
Onychotrichodysplasia And Neutropenia	Lymphocytosis, Chronic irritative conjunctivitis, Chronic neutropenia, Neutropenia	OMIM:258360
Crigler-Najjar Syndrome	Infectious encephalitis	ORPHA:205
Orofaciodigital Syndrome Vi	Brachydactyly, Toe syndactyly, Short femur, Mesoaxial hand polydactyly, Postaxial polydactyly, Sh...	OMIM:277170
Isotretinoin-Like Syndrome	Postnatal growth retardation, Intrauterine growth retardation, Lymphopenia, Hypocalcemia	ORPHA:2306
Nipah Virus Disease	Infectious encephalitis	ORPHA:99825
Ileal Neuroendocrine Tumor	Elevated hepatic transaminase, Extrahepatic cholestasis, Lymphadenopathy, Weight loss, Iron defic...	ORPHA:100078
Carney Triad	Mediastinal lymphadenopathy, Ascites, Anemia, Lymphadenopathy	ORPHA:139411
1P36 Deletion Syndrome	Camptodactyly of finger, Abnormality of the spleen, Obesity, Abnormality of the liver, Gastroesop...	ORPHA:1606
Ifap Syndrome 1, With Or Without Bresheck Syndrome	Recurrent skin infections, Eczema, Short stature, Keratitis, Cryptorchidism, Growth delay, Erythr...	OMIM:308205
Tangier Disease	Orange discolored tonsils, Chronic noninfectious lymphadenopathy, Thrombocytopenia, Hepatosplenom...	ORPHA:31150
Dermatomyositis	Pericarditis, Abnormal eosinophil morphology, Myocarditis, Weight loss, Arthritis, Chondrocalcinosis	ORPHA:221
Hunter-Macdonald Syndrome	Epiphyseal dysplasia, Short stature, Metatarsus adductus, Delayed skeletal maturation, Premature ...	OMIM:611962
Glucagonoma	Neoplasm of the pancreas, Hepatomegaly, Skin rash, Acanthocytosis, Pruritus, Intrahepatic cholest...	ORPHA:97280
Subacute Sclerosing Panencephalitis	Infectious encephalitis	OMIM:260470
Classical Ehlers-Danlos Syndrome	Osteopenia, Phalangeal dislocation, Osteoarthritis, Generalized joint laxity, Hip dislocation, Jo...	ORPHA:287
Spondyloarthropathy, Susceptibility To, 1	Anterior uveitis, Psoriasiform dermatitis, Oligoarthritis, Enthesitis, Sacroiliac arthritis, Infl...	OMIM:106300
Amoebiasis Due To Free-Living Amoebae	Sinusitis, Stiff neck, Pneumonia, Pustule, Granuloma, Infectious encephalitis, Increased red bloo...	ORPHA:68
Cysticercosis	Iridocyclitis, Stiff neck, Infectious encephalitis, Increased circulating antibody level	ORPHA:1560
Mitochondrial Complex Iv Deficiency, Nuclear Type 5	Inguinal hernia, Small for gestational age, Microvesicular hepatic steatosis, Hyperammonemia, Vom...	OMIM:220111
Intellectual Developmental Disorder, Autosomal Dominant 53	Growth delay, Short femur, Joint hypermobility, Genu valgum	OMIM:617798
Hemophilia B	Osteoarthritis, Joint hemorrhage	OMIM:306900
Loeys-Dietz Syndrome 6	Hip osteoarthritis, Knee osteoarthritis, Arachnodactyly, Intervertebral disc degeneration	OMIM:619656
Hemophilia A	Osteoarthritis, Joint hemorrhage	OMIM:306700
Complement Factor I Deficiency	Recurrent skin infections, Glomerulonephritis, Pyelonephritis, Recurrent sinusitis, Recurrent oti...	OMIM:610984
Catel-Manzke Syndrome	Joint laxity, Short humerus, Short metacarpal, Short femur, Joint dislocation, Postnatal growth r...	OMIM:616145
Brachial Amelia, Cleft Lip, And Holoprosencephaly	Short femur, Foot oligodactyly	OMIM:601357
Apolipoprotein A-I Deficiency	Xanthelasma, Decreased HDL cholesterol concentration, Abnormal circulating lipid concentration	ORPHA:425
Hartnup Disease	Skin rash, Infectious encephalitis, Short stature	ORPHA:2116
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome	Hyponatremia, Short stature, Accelerated skeletal maturation, Hyperlipidemia, Hyperkalemia, Obesi...	ORPHA:293987
8Q24.3 Microdeletion Syndrome	Long toe, Joint laxity, Infancy onset short-trunk short stature, Congenital hip dislocation, Shor...	ORPHA:508488
Immunoglobulin A Vasculitis	Episcleritis, Skin rash, Orchitis, Pustule, Arthritis, Infectious encephalitis	ORPHA:761
Polycystic Kidney Disease 6 With Or Without Polycystic Liver Disease	Gout	OMIM:618061
Chronic Graft Versus Host Disease	Fasciitis, Pancytopenia, Urinary bladder inflammation, Flexion contracture, Bronchiectasis, Weigh...	ORPHA:99921
Tropical Endomyocardial Fibrosis	Hepatomegaly, Increased circulating interleukin 6 concentration, Eosinophilia, Cachexia, Cardiome...	ORPHA:75565
Lacrimoauriculodentodigital Syndrome	Syndactyly, Finger syndactyly, Toe syndactyly, Duplication of thumb phalanx, Absent thumb, Abnorm...	ORPHA:2363
Loeys-Dietz Syndrome 3	Joint laxity, Arachnodactyly, Protrusio acetabuli, Eosinophilic infiltration of the esophagus, Cr...	OMIM:613795
Neurocutaneous Melanocytosis	Infectious encephalitis	ORPHA:2481
Poliomyelitis	Stiff neck, Infectious encephalitis, Myelitis	ORPHA:2912
Tetrasomy 9P	Joint dislocation, Myositis, Hypoplastic scapulae, Pericarditis, Small hand, Arthritis, Small toe...	ORPHA:3310
Alström Syndrome	Hepatic fibrosis, Gastroesophageal reflux, Otitis media, Hepatic steatosis, Hepatomegaly, Portal ...	ORPHA:64
Cerebral Visual Impairment	Infectious encephalitis	ORPHA:447788
Behcet Syndrome	Erythema nodosum, Iridocyclitis, Epididymitis, Arthritis, Iritis	OMIM:109650
Acromegaly	Acne, Macrodactyly, Tapered finger, Osteoarthritis, Joint swelling, Large hands, Cortical diaphys...	ORPHA:963
Renal Cysts And Diabetes Syndrome	Elevated circulating creatinine concentration, Hyperuricemia, Gout	OMIM:137920
Charge Syndrome	Hypoplasia of the ulna, Down-sloping shoulders, Absent radius, Short thumb, Radial head subluxati...	OMIM:214800
Marfan Syndrome	Arachnodactyly, Protrusio acetabuli, Genu recurvatum, Equinus calcaneus, Metatarsus adductus, Pre...	OMIM:154700
Lymphangioleiomyomatosis	Abnormality of the lymphatic system, Pulmonary lymphangiomyomatosis, Ascites, Lymphadenopathy	ORPHA:538
Nk-Cell Enteropathy	Increased T cell count	ORPHA:263665
Homozygous Familial Hypercholesterolemia	Increased LDL cholesterol concentration, Hypercholesterolemia, Hyperlipidemia, Hepatic steatosis	ORPHA:391665
Somatomammotropinoma	Macrodactyly, Tapered finger, Osteoarthritis, Joint swelling, Large hands, Cortical diaphyseal th...	ORPHA:314769
Congenital Disorder Of Glycosylation, Type Iw, Autosomal Dominant	Intrauterine growth retardation, Osteoarthritis, Short stature	OMIM:619714
Adenocarcinoma Of The Anal Canal	Neoplasm of the liver, Lymphadenopathy	ORPHA:424016
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination	Short humerus, Short femur, Short stature, Tapered finger	OMIM:618367
Keratoendotheliitis Fugax Hereditaria	Keratitis	OMIM:148200

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.

There is no histopathology data for Nlrp3

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 Nlrp3.

No publications found that use IMPC mice or data for Nlrp3.

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
Nlrp3^{tm1(KOMP)Vlcg}	Reporter-tagged deletion allele (with selection cassette)	ES Cells
Nlrp3^{em3(IMPC)Cmsu}	Deletion	Mice
Nlrp3^{tm1(NCOM)Mfgc}	Reporter-tagged deletion allele (with selection cassette)	Targeting vectors, ES Cells
Nlrp3^{em2(IMPC)Cmsu}	Deletion	Mice
Nlrp3^{em1(IMPC)Cmsu}	Deletion	Mice

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

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