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Gene: Nlrp3 MGI:2653833

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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.

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

Disease Similarity of
phenotypes		 Matching phenotypes Source
Complement Component 4, Partial Deficiency Of
Systemic lupus erythematosus OMIM:120790
Autoimmune Disease
Autoimmunity, Autoimmune antibody positivity OMIM:109100
Pemphigus Vulgaris, Familial
Autoimmunity, Autoimmune antibody positivity OMIM:169610
Hashimoto Thyroiditis
Hashimoto thyroiditis, Autoimmune antibody positivity OMIM:140300
Tn Polyagglutination Syndrome
Autoimmunity OMIM:300622
Albers-Schönberg Osteopetrosis
Short distal phalanx of finger, Mandibular osteomyelitis, Joint dislocation, Abnormal epiphysis m... ORPHA:53
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis
Inflammation of the large intestine, Craniofacial osteosclerosis, Abnormal epiphysis morphology, ... ORPHA:324964
Complement Component 8 Deficiency, Type I
Systemic lupus erythematosus OMIM:613790
Immunodeficiency 27A
Hypoalbuminemia, Pneumonia, Hepatosplenomegaly, Leukocytosis, Splenomegaly, Hypoplasia of the fem... OMIM:209950
Mu-Heavy Chain Disease
Abnormal B cell count, Splenomegaly, Increased circulating antibody level, Weight loss, Anemia, O... ORPHA:100024
Lupus Erythematosus Tumidus
Anti-dsDNA antibody positivity, Anti-La/SS-B antibody positivity, Antinuclear antibody positivity... ORPHA:90283
Immunodeficiency 104
Pneumonia, Eczematoid dermatitis, Chronic mucocutaneous candidiasis, Failure to thrive secondary ... OMIM:608971
Hypertriglyceridemia, Transient Infantile
Hepatic fibrosis, Vomiting, Elevated circulating hepatic transaminase concentration, Failure to t... OMIM:614480
Systemic Lupus Erythematosus 16
Anti-dsDNA antibody positivity, Perinuclear antineutrophil antibody positivity, Antinuclear antib... OMIM:614420
Majeed Syndrome
Metaphyseal irregularity, Inflammatory abnormality of the skin, Failure to thrive, Osteomyelitis,... ORPHA:77297
Immunodeficiency 69
Hemophagocytosis, Failure to thrive, Increased circulating ferritin concentration, Pancytopenia, ... OMIM:618963
Osteochondrosis Of The Metatarsal Bone
Abnormality of the fifth metatarsal bone, Abnormal metatarsal epiphysis morphology, Abnormality o... ORPHA:564003
Immunodeficiency 64 With Lymphoproliferation
Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased circulating IgG level... OMIM:618534
Rosaï-Dorfman Disease
Anemia, Dysgammaglobulinemia, Osteolysis ORPHA:158014
Caspase 8 Deficiency
Pneumonia, Decreased circulating IgG level, Eczematoid dermatitis, Failure to thrive, Decreased C... OMIM:607271
Immunodeficiency 52
Recurrent pneumonia, Increased proportion of gamma-delta T cells, Failure to thrive, Lymphopenia,... OMIM:617514
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Failure to thrive, Decreased proportion of CD8-positive T cells, Lymphopenia, Hepatosplenomegaly,... ORPHA:169154
Osteopetrosis, Autosomal Recessive 1
Failure to thrive, Flared metaphysis, Pathologic fracture, Osteomyelitis, Pancytopenia, Hypocalce... OMIM:259700
Medial Condensing Osteitis Of The Clavicle
Elevated circulating C-reactive protein concentration, Limited shoulder movement, Patchy reductio... ORPHA:57196
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne
Elbow flexion contracture, Microcytic anemia, Hepatosplenomegaly, Pancytopenia, Knee flexion cont... OMIM:604416
Intermediate Osteopetrosis
Erlenmeyer flask deformity of the femurs, Cortical sclerosis, Osteomyelitis, Hepatosplenomegaly, ... ORPHA:210110
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia
Recurrent pneumonia, Eczematoid dermatitis, Hypersegmentation of neutrophil nuclei, Lymphopenia, ... OMIM:617780
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis
Osteopenia, Periostitis, Failure to thrive in infancy, Osteomyelitis, Skin rash, Splenomegaly, Ab... OMIM:612852
Ollier Disease
Micromelia, Abnormal cartilage morphology, Joint stiffness, Anemia, Multiple enchondromatosis, Ab... ORPHA:296
Rheumatoid Factor-Positive Polyarticular Juvenile Idiopathic Arthritis
Osteopenia, Abnormal circulating interleukin concentration, Limitation of joint mobility, Abnorma... ORPHA:85435
Inflammatory Bowel Disease 29
Ulcerative colitis, Crohn's disease OMIM:618077
Hepatic Venoocclusive Disease With Immunodeficiency
Decreased circulating IgG level, Abnormality of the liver, Absence of lymph node germinal center OMIM:235550
X-Linked Agammaglobulinemia
Recurrent pneumonia, Hepatitis, Failure to thrive, Osteomyelitis, Hypocalcemia, Skin rash, Agamma... ORPHA:47
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Recurrent pneumonia, Inflammatory abnormality of the skin, Absence of lymph node germinal center,... ORPHA:277
Osteochondrosis Of The Tarsal Bone
Tarsal sclerosis, Abnormal tarsal ossification, Ankle pain, Chondritis, Osteochondritis dissecans... ORPHA:563991
Epiphyseal Dysplasia, Multiple, 3
Delayed epiphyseal ossification, Epiphyseal dysplasia, Irregular epiphyses, Abnormal hip joint mo... OMIM:600969
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Pneumonia, Decreased circulating IgG level, Recurrent pneumonia, Hepatitis, Failure to thrive sec... ORPHA:169160
Immunodeficiency 14B, Autosomal Recessive
Decreased circulating IgG level, Inflammation of the large intestine, Recurrent pneumonia, Polyar... OMIM:619281
Shwachman-Diamond Syndrome
Aplastic anemia, Abnormal joint morphology, Pancytopenia, Increased serum bile acid concentration... ORPHA:811
Gaucher Disease Type 1
Hepatosplenomegaly, Pancytopenia, Hypersplenism, Increased circulating antibody level, Elevated c... ORPHA:77259
Immune Thrombocytopenia
Platelet antibody positive OMIM:188030
Gorham-Stout Disease
Osteopenia, Pathologic fracture, Osteomyelitis, Cortical irregularity, Abnormal femur morphology,... ORPHA:73
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation
Herpes simplex encephalitis, Increased circulating IgE level, Recurrent otitis media, Hepatosplen... OMIM:618982
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Decreased specific anti-polysaccharide antibody level, Recurrent otitis media, Decreased CD4:CD8 ... OMIM:300853
Immunodeficiency 15B
Reduced natural killer cell count, Failure to thrive, Agammaglobulinemia, Monocytosis, Decreased ... OMIM:615592
Immunodeficiency 105
Decreased circulating IgG level, Reduced natural killer cell count, Absence of lymph node germina... OMIM:619924
Familial Hemophagocytic Lymphohistiocytosis
Hemophagocytosis, Erythroderma, Neutropenia, Reduced natural killer cell activity, Hepatomegaly, ... ORPHA:540
Osteopetrosis, Autosomal Recessive 2
Mandibular osteomyelitis, Extramedullary hematopoiesis, Cranial hyperostosis, Osteomyelitis, Hepa... OMIM:259710
Immunodeficiency, Common Variable, 2
Decreased circulating IgG level, Abnormal T cell count, Recurrent pneumonia, Impaired T cell func... OMIM:240500
Mueller-Weiss Syndrome
Joint subluxation, Tibiofibular diastasis, Sclerosis of foot bone, Tibial torsion, Abnormality of... ORPHA:566943
Autoimmune Lymphoproliferative Syndrome, Type Iii
Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of memory ... OMIM:615559
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Failure to thrive, Recurrent otitis media, Decreased CD4:CD8 ratio, Autoimmunity, Splenomegaly, A... OMIM:618495
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Lymphopenia, Lymph node hypoplasia, Decreased proportion of CD4-positive helper T cells, Abnormal... ORPHA:276
Hereditary Sensory And Autonomic Neuropathy Type 2
Foot acroosteolysis, Abnormality of the ankle, Abnormal epiphysis morphology, Abnormal hip bone m... ORPHA:970
Autosomal Agammaglobulinemia
Bronchiectasis, Hepatitis, Failure to thrive, Osteomyelitis, Skin rash, Agammaglobulinemia, Arthr... ORPHA:33110
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant
Decreased specific pneumococcal antibody level, Splenomegaly, Decreased circulating IgG2 level, D... OMIM:615513
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Hepatitis, Systemic lupus erythematosus, Recurrent otitis media, Lymphopenia, Autoimmunity, Splen... ORPHA:444463
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Eczematoid dermatitis, Hepatitis, Failure to thrive, Increased circulating IgE level, Anti-glutam... OMIM:304790
Pgm3-Cdg
Allergic rhinitis, Abnormal CD4:CD8 ratio, Increased circulating IgE level, Lymphopenia, Esophagi... ORPHA:443811
Autoimmune Lymphoproliferative Syndrome, Type Iia
Follicular hyperplasia, Antiphospholipid antibody positivity, Increased circulating IgA level, He... OMIM:603909
Sickle Cell Anemia
Splenic infarction, Hypochromic anemia, Increased mean corpuscular volume, Unconjugated hyperbili... ORPHA:232
Immunodeficiency 48
Pneumonia, Eczematoid dermatitis, Failure to thrive, Panhypogammaglobulinemia, Abnormal B cell co... OMIM:269840
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Decreased proportion of CD4+CD25+ regulatory T cells, Decreased specific anti-polysaccharide anti... OMIM:606367
Immunodeficiency 85 And Autoimmunity
Decreased proportion of memory B cells, Reduced natural killer cell count, Decreased circulating ... OMIM:619510
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Acute monocytic leukemia, Congenital agranulocytosis, Thrombocytosis, Increased circulating antib... OMIM:202700
Ras-Associated Autoimmune Leukoproliferative Disorder
Pancytopenia, Splenomegaly, Increased circulating antibody level, Lymphocytosis, Neutropenia, Mon... OMIM:614470
Immunodeficiency 25
Recurrent pneumonia, Increased circulating IgE level, Complete or near-complete absence of specif... OMIM:610163
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections
Atopic dermatitis, Recurrent pneumonia, Eczematoid dermatitis, Cutaneous abscess, Chronic mucocut... OMIM:618282
Sézary Syndrome
Abnormal lymphocyte morphology, Splenomegaly, Abnormal immunoglobulin level, Erythroderma, Lympha... ORPHA:3162
Autoimmune Lymphoproliferative Syndrome
Follicular hyperplasia, Antiphospholipid antibody positivity, Increased circulating IgA level, He... OMIM:601859
Complement Component C1S Deficiency
Hashimoto thyroiditis, Systemic lupus erythematosus OMIM:613783
Immunodeficiency, Common Variable, 1
Pneumonia, Decreased circulating IgG level, Abnormal T cell count, Recurrent pneumonia, Impaired ... OMIM:607594
Omenn Syndrome
Pneumonia, Failure to thrive, Abnormal lymphocyte morphology, Autoimmunity, Leukocytosis, Splenom... ORPHA:39041
Diarrhea 13
Hypoalbuminemia, Vomiting, Secretory diarrhea, Failure to thrive, Elevated circulating hepatic tr... OMIM:620357
Pachydermoperiostosis
Small hand, Clubbing of toes, Limitation of joint mobility, Eczematoid dermatitis, Abnormal epiph... ORPHA:2796
Activated Pi3K-Delta Syndrome
Pneumonia, Recurrent tonsillitis, Failure to thrive, Recurrent otitis media, Autoimmunity, Spleno... ORPHA:397596
Aspergillosis
Pneumonia, Keratitis, Hepatitis, Increased circulating IgE level, Osteomyelitis, Abnormal long bo... ORPHA:1163
Ghosal Hematodiaphyseal Dysplasia
Craniofacial hyperostosis, Abnormal pelvic girdle bone morphology, Abnormal tibia morphology, Abn... ORPHA:1802
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Fluctuating splenomegaly, Recurrent otitis media, Autoimmune hemolytic anemia, Lymphadenopathy, N... OMIM:619220
Felty Syndrome
Bone marrow hypocellularity, Recurrent pneumonia, Limitation of joint mobility, Osteolysis, Abnor... ORPHA:47612
Kerion Celsi
Inflammatory abnormality of the skin, Recurrent skin infections, Recurrent cutaneous abscess form... ORPHA:499
Neuropathy, Hereditary Sensory, Type If
Osteomyelitis, Metatarsal fracture, Osteolytic defects of the phalanges of the hand, Hallux valgu... OMIM:615632
C1Q Deficiency 1
Autoimmunity, Systemic lupus erythematosus OMIM:613652
Pulmonary Nodular Lymphoid Hyperplasia
Mediastinal lymphadenopathy, Follicular hyperplasia, Autoimmune antibody positivity, Plasmacytosis ORPHA:60026
Eiken Syndrome
Delayed epiphyseal ossification, Abnormal trabecular bone morphology, Abnormal fingertip morpholo... ORPHA:79106
Gnathodiaphyseal Dysplasia
Osteopenia, Diaphyseal cortical sclerosis, Osteomyelitis, Increased susceptibility to fractures, ... OMIM:166260
Majeed Syndrome
Inflammatory abnormality of the skin, Failure to thrive, Delayed skeletal maturation, Microcytic ... OMIM:609628
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias
Decreased proportion of CD4+CD25+ regulatory T cells, Lymphopenia, Decreased circulating antibody... OMIM:619846
Celiac Disease, Susceptibility To, 1
Rickets, Eczematoid dermatitis, Failure to thrive, Postnatal growth retardation, Decreased circul... OMIM:212750
Immunodeficiency 91 And Hyperinflammation
Recurrent pneumonia, Hemophagocytosis, Failure to thrive, Hepatosplenomegaly, Monocytosis, Membra... OMIM:619644
Severe Combined Immunodeficiency, X-Linked
Pneumonia, Decreased circulating IgG level, Recurrent pneumonia, Failure to thrive, Decreased cir... OMIM:300400
Aggressive Systemic Mastocytosis
Abnormal mast cell morphology, Pathologic fracture, Hepatosplenomegaly, Pancytopenia, Hyperspleni... ORPHA:98850
Autosomal Dominant Severe Congenital Neutropenia
Pneumonia, Osteopenia, Periodontitis, Aplastic anemia, Lymphopenia, Recurrent aphthous stomatitis... ORPHA:486
Autosomal Dominant Hyper-Ige Syndrome Due To Stat3 Deficiency
Osteopenia, Eczematoid dermatitis, Increased circulating IgE level, Osteomyelitis, Recurrent frac... ORPHA:2314
Immunodeficiency 103, Susceptibility To Fungal Infections
Increased circulating IgE level, Hypereosinophilia, Abnormal B cell count, Abnormal proportion of... OMIM:212050
Hypocalcemic Vitamin D-Resistant Rickets
Coarse metaphyseal trabecularization, Joint dislocation, Osteomalacia, Abnormal hip bone morpholo... ORPHA:93160
Schnitzler Syndrome
Leukocytosis, Splenomegaly, Skin rash, Hepatomegaly, Lymphadenopathy, Arthritis, Anemia, Pruritus... ORPHA:37748
Familial Expansile Osteolysis
Pathologic fracture, Bowing of the long bones, Thin bony cortex, Osteolysis, Bone pain OMIM:174810
Complement Component 2 Deficiency
Systemic lupus erythematosus OMIM:217000
Immunodeficiency 92
Pneumonia, Decreased circulating IgG level, Partial absence of specific antibody response to teta... OMIM:619652
Persistent Polyclonal B-Cell Lymphocytosis
Decreased circulating total IgM, Hepatomegaly, Lymphocytosis, Splenomegaly OMIM:606445
Combined Oxidative Phosphorylation Deficiency 53
Septic arthritis, Failure to thrive, Osteomyelitis, Hypochromic microcytic anemia, Arthritis, Ele... OMIM:619423
Lipodystrophy, Congenital Generalized, Type 3
Generalized lipodystrophy, Hepatosplenomegaly, Splenomegaly, Hepatic steatosis, Reduced subcutane... OMIM:612526
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia
Pathologic fracture, Increased susceptibility to fractures, Abnormal long bone morphology, Elevat... ORPHA:52430
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections
Allergic rhinitis, Atopic dermatitis, Recurrent pneumonia, Reduced natural killer cell count, Ecz... OMIM:243700
Sting-Associated Vasculopathy, Infantile-Onset
Pustular rash, Failure to thrive, Lymphopenia, Joint stiffness, Malar rash, Leukopenia, Skin rash... OMIM:615934
Glycogen Storage Disease Vi
Elevated circulating hepatic transaminase concentration, Failure to thrive in infancy, Hyperlipid... OMIM:232700
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Abnormally low T cell receptor excision circle level, Pneumonia, Failure to thrive, Panhypogammag... OMIM:602450
Immunodeficiency 51
Pneumonia, Folliculitis, Cutaneous abscess, Eczematoid dermatitis, Chronic mucocutaneous candidia... OMIM:613953
Lipodystrophy, Partial, Acquired, Susceptibility To
Loss of subcutaneous adipose tissue from upper limbs, Abnormal circulating lipid concentration, L... OMIM:608709
Proteasome-Associated Autoinflammatory Syndrome 2
Decreased proportion of memory B cells, Anti-thyroglobulin antibody positivity, Anti-beta-2-Glyco... OMIM:618048
Juvenile Hyaline Fibromatosis
Joint stiffness, Progressive flexion contractures, Osteolysis, Abnormal diaphysis morphology ORPHA:2028
Hyaline Fibromatosis Syndrome
Osteopenia, Failure to thrive, Progressive flexion contractures, Osteoporosis, Flexion contractur... OMIM:228600
Autosomal Recessive Distal Osteolysis Syndrome
Short stature, Short distal phalanx of finger, Osteolysis ORPHA:2776
Lymphoproliferative Syndrome 3
Reduced natural killer cell count, Partial absence of specific antibody response to tetanus vacci... OMIM:618261
Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Delayed epiphyseal ossification, Rickets, Failure to thrive, Bulging epiphyses, Growth delay, Enl... OMIM:600081
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Inflammatory abnormality of the skin, Increased circulating IgE level, Psoriasiform dermatitis, C... ORPHA:37042
Immunodeficiency 97 With Autoinflammation
Hemophagocytosis, Decreased proportion of CD8-positive T cells, Lymphopenia, Hepatosplenomegaly, ... OMIM:619802
Congenital Disorder Of Glycosylation, Type Iik
Epiphyseal dysplasia, Failure to thrive, Joint hypermobility, Elevated circulating creatine kinas... OMIM:614727
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome
Hepatomegaly, Splenomegaly ORPHA:2274
Talo-Patello-Scaphoid Osteolysis
Osteolysis of talus, Osteolysis of scaphoids, Osteolysis of patellae, Synovitis, Short 4th metaca... ORPHA:50809
Lymphoproliferative Syndrome, X-Linked, 2
Inflammation of the large intestine, Folliculitis, Aplastic anemia, Hemophagocytosis, Hepatitis, ... OMIM:300635
Mycetoma
Painless fractures due to injury, Abnormal forearm bone morphology, Pathologic fracture, Osteomye... ORPHA:2583
Bacterial Toxic-Shock Syndrome
Abscess, Glomerulonephritis, Recurrent skin infections, Elevated circulating creatinine concentra... ORPHA:36234
Brucellosis
Arteritis, Sacroiliac arthritis, Hypersplenism, Knee osteoarthritis, Weight loss, Glomerulonephri... ORPHA:1304
Heme Oxygenase 1 Deficiency
Nephritis, Increased circulating interleukin 6 concentration, Growth delay, Increased circulating... OMIM:614034
Immunodeficiency 21
Reduced natural killer cell count, Aplastic anemia, Lymphopenia, Osteomyelitis, Anemia, Neutropen... OMIM:614172
Immunodeficiency 53
Recurrent pneumonia, Failure to thrive, Recurrent otitis media, Skin rash, Impaired lymphocyte tr... OMIM:617585
Combined Oxidative Phosphorylation Deficiency 16
Elevated circulating aspartate aminotransferase concentration, Elevated circulating alanine amino... OMIM:615395
Alpha-Heavy Chain Disease
Ascites, Splenomegaly, Dysgammaglobulinemia, Hepatomegaly, Lymphadenopathy, Anemia, Growth delay ORPHA:100025
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency
Decreased circulating IgG level, Inflammation of the large intestine, Eczematoid dermatitis, Chro... ORPHA:98813
Morbid Obesity And Spermatogenic Failure
Obesity, Increased LDL cholesterol concentration, Hepatic steatosis, Hypertriglyceridemia, Hyperc... OMIM:615703
Immunodeficiency 102
Decreased proportion of CD4-positive helper T cells, Hepatomegaly, Recurrent skin infections, Aut... OMIM:301082
Immunodeficiency 76
Recurrent pneumonia, Lymphopenia, Splenomegaly, Lymphadenopathy, B lymphocytopenia, Colitis, T ly... OMIM:619164
Lymphoproliferative Syndrome, X-Linked, 1
Decreased circulating IgG level, Abnormal T cell count, Hepatic failure, Aplastic anemia, Hemopha... OMIM:308240
Multiple Epiphyseal Dysplasia Type 1
Delayed epiphyseal ossification, Disproportionate short stature, Limitation of joint mobility, Ar... ORPHA:93308
Poems Syndrome
Polycythemia, Sclerosis of foot bone, Sclerosis of hand bone, Sclerosis of skull base, Metaphysea... ORPHA:2905
Macrophage Activation Syndrome
Abnormal circulating interleukin concentration, Increased circulating interleukin 6 concentration... ORPHA:158061
Immunodeficiency 115 With Autoinflammation
Decreased circulating IgG level, Eczematoid dermatitis, Intestinal lymphangiectasia, Postnatal gr... OMIM:620632
Adult Idiopathic Neutropenia
Lymphopenia, Recurrent aphthous stomatitis, Neutropenia, Monocytosis, Monocytopenia, Increased ci... ORPHA:2688
Congenital Disorder Of Glycosylation, Type Iip
Elevated circulating hepatic transaminase concentration, Decreased liver function, Increased LDL ... OMIM:616829
Immunodeficiency 98 With Autoinflammation, X-Linked
Bone marrow hypocellularity, Decreased circulating IgG level, Antineutrophil antibody positivity,... OMIM:301078
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Atrophic gastritis, Decreased circulating IgG level, Eczematoid dermatitis, Lymphopenia, Decrease... OMIM:616100
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency
Systemic lupus erythematosus, Anti-dsDNA antibody positivity, Splenomegaly, Antinuclear antibody ... OMIM:619375
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia
Decreased circulating IgG level, Lymphopenia, Leukopenia, Postnatal growth retardation, Splenomeg... OMIM:620210
Acquired Idiopathic Sideroblastic Anemia
Normocytic anemia, Bone marrow hypocellularity, Megaloblastic erythroid hyperplasia, Hypochromic ... ORPHA:75564
Immunodeficiency 24
Decreased circulating IgG level, Partial absence of specific antibody response to tetanus vaccine... OMIM:615897
Hypocalcemic Vitamin D-Dependent Rickets
Delayed epiphyseal ossification, Hypochromic anemia, Osteomalacia, Postnatal growth retardation, ... ORPHA:289157
Proteasome-Associated Autoinflammatory Syndrome 5
Skin rash, Hepatomegaly, Failure to thrive in infancy, Splenomegaly OMIM:619175
Immunodeficiency 75 With Lymphoproliferation
Hepatosplenomegaly, Follicular hyperplasia, Decreased proportion of class-switched memory B cells... OMIM:619126
Plin1-Related Familial Partial Lipodystrophy
Hepatic fibrosis, Hepatic steatosis, Reduced subcutaneous adipose tissue, Loss of gluteal subcuta... ORPHA:280356
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia
Abnormally low T cell receptor excision circle level, Decreased circulating IgG level, Cervical l... OMIM:618987
Mantle Cell Lymphoma
Weight loss, Splenomegaly, Lymphadenopathy ORPHA:52416
Fatty Liver Disease, Susceptibility To, 1
Hepatic steatosis OMIM:613282
Fatty Liver Disease, Susceptibility To, 2
Hepatic steatosis OMIM:613387
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy
Limitation of joint mobility, Carpal osteolysis, Wrist swelling, Camptodactyly of finger, Metacar... ORPHA:2774
Aicardi-Goutieres Syndrome 6
Intrauterine growth retardation, Chilblains, Splenomegaly, Increased circulating Interferon-alpha... OMIM:615010
Gaucher Disease
Pancytopenia, Increased circulating antibody level, Polyclonal elevation of IgM, Elevated circula... ORPHA:355
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency
Inflammation of the large intestine, Psoriasiform dermatitis, Hepatomegaly, Autoimmune thrombocyt... ORPHA:436159
Fragile Site, Distamycin A Type, Rare, Fra(16)(Q22.1)
Infertility, Abnormal lymph node morphology OMIM:136580
Pseudoachondroplasia
Delayed epiphyseal ossification, Genu valgum, Wind-swept deformity of the knees, Shortening of al... ORPHA:750
Immunodeficiency 82 With Systemic Inflammation
Decreased circulating total IgG, Pustular rash, Osteomalacia, Recurrent otitis media, Weight loss... OMIM:619381
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Hemophagocytosis, Hepatosplenomegaly, Splenomegaly, Abnormal natural killer cell physiology, Recu... OMIM:613101
Coccidioidomycosis
Morbilliform rash, Abnormality of the spleen, Abscess, Abnormal metacarpal morphology, Erythema n... ORPHA:228123
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Failure to thrive, Extramedullary hematopoiesis, Leukopenia, Splenomegaly, Increased circulating ... OMIM:615285
Infantile Myofibromatosis
Chondrocalcinosis, Limitation of joint mobility, Abnormal metaphysis morphology, Bone cyst, Hyper... ORPHA:2591
Immunodeficiency 109 With Lymphoproliferation
Decreased circulating IgG level, Decreased specific pneumococcal antibody level, Pancytopenia, Co... OMIM:620282
Hypophosphatemic Rickets With Hypercalciuria, Hereditary
Delayed epiphyseal ossification, Rickets, Failure to thrive, Bulging epiphyses, Growth delay, Enl... OMIM:241530
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Hypoalbuminemia, Growth delay, Iron deficiency anemia, Thrombocytosis, Anemia, Decreased circulat... OMIM:226300
Charcot-Marie-Tooth Disease, Axonal, Type 2Ee
Mildly elevated creatine kinase, Elevated circulating hepatic transaminase concentration, Hepatic... OMIM:618400
Drug Reaction With Eosinophilia And Systemic Symptoms
Elevated circulating hepatic transaminase concentration, Hepatitis, Acute hepatic failure, Inters... ORPHA:139402
Epiphyseal Dysplasia, Multiple, 1
Delayed epiphyseal ossification, Hip osteoarthritis, Epiphyseal dysplasia, Severe short stature, ... OMIM:132400
Frank-Ter Haar Syndrome
Genu recurvatum, Camptodactyly of finger, Joint stiffness, Abnormal metacarpal morphology, Brachy... ORPHA:137834
Combined Oxidative Phosphorylation Deficiency 34
Hepatic failure, Vomiting, Failure to thrive, Elevated circulating creatinine concentration, Hepa... OMIM:617872
Autoinflammatory Disease, Systemic, X-Linked
Decreased circulating IgG level, Panuveitis, Osteomyelitis, Hepatosplenomegaly, Panniculitis, Com... OMIM:301081
Lymphoproliferative Syndrome 1
Decreased circulating IgG level, Hemophagocytosis, Pancytopenia, Leukopenia, Decreased proportion... OMIM:613011
Indolent Systemic Mastocytosis
Mastocytosis, Increased proportion of CD25+ mast cells, Splenomegaly, Skin rash, Lymphadenopathy,... ORPHA:98848
Omenn Syndrome
Pneumonia, Failure to thrive, Splenomegaly, Hypoplasia of the thymus, Eosinophilia, Anemia, Eryth... OMIM:603554
Neuropathy, Hereditary Sensory And Autonomic, Type Iib
Osteomyelitis, Osteolytic defects of the phalanges of the hand, Autoamputation of digits OMIM:613115
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2
Decreased proportion of memory B cells, Inflammation of the large intestine, Reduced natural kill... OMIM:301074
Diffuse Cutaneous Mastocytosis
Abnormality of the spleen, Abnormality of the liver, Lymphocytosis, Erythroderma, Lymphadenopathy... ORPHA:79456
Classic Hodgkin Lymphoma
Bone marrow hypocellularity, Skin rash, Splenomegaly, Weight loss, Osteolysis, Bone pain ORPHA:391
Osteosarcoma
Abnormal femoral metaphysis morphology, Pathologic fracture, Abnormal tibial metaphysis morpholog... ORPHA:668
Dermatoosteolysis, Kirghizian Type
Keratitis, Abnormal diaphysis morphology, Abnormality of the wrist, Brachydactyly, Osteoarthritis... ORPHA:1657
Chilblain Lupus
Discoid lupus rash, Inflammatory abnormality of the skin, Systemic lupus erythematosus, Chronic m... ORPHA:90280
Hemophagocytic Lymphohistiocytosis, Familial, 4
Hemophagocytosis, Splenomegaly, Skin rash, Hepatomegaly, Jaundice, Lymphadenopathy, Thrombocytope... OMIM:603552
Tularemia
Pneumonia, Brain abscess, Cutaneous abscess, Cervical lymphadenopathy, Abnormal nasopharyngeal ad... ORPHA:3392
Combined Immunodeficiency Due To Zap70 Deficiency
Pneumonia, Lymphadenitis, Chronic mucocutaneous candidiasis, Failure to thrive, Abnormal lymph no... ORPHA:911
Obesity
Decreased resting energy expenditure, Obesity, Increased waist to hip ratio OMIM:601665
Immunodeficiency With Hyper-Igm, Type 3
Decreased circulating IgG level, Impaired memory B cell generation, Absence of lymph node germina... OMIM:606843
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Acute pancreatitis, Recurrent pneumonia, Recurrent tonsillitis, Granuloma, Lymphadenitis, Eczemat... OMIM:618935
Immunodeficiency With Hyper-Igm, Type 4
Osteomyelitis, Autoimmune hemolytic anemia, Impaired Ig class switch recombination, Autoimmune th... OMIM:608184
Immunodeficiency 50
Lymphopenia, Decreased circulating antibody level, Eczematoid dermatitis, Neutropenia OMIM:300988
H Syndrome
Bronchiectasis, Delayed skeletal maturation, Osteolysis, Microcytic anemia, Hepatosplenomegaly, P... ORPHA:168569
Hyper-Ige Syndrome 5, Autosomal Recessive, With Recurrent Infections
Decreased circulating IgG level, Atopic dermatitis, Increased circulating interleukin 6 concentra... OMIM:618944
Glycosylphosphatidylinositol Biosynthesis Defect 17
Osteomyelitis, Clinodactyly of the 5th toe, Hypertriglyceridemia, Clinodactyly of the 5th finger,... OMIM:618010
Tenosynovial Giant Cell Tumor
Chondrocalcinosis, Limitation of joint mobility, Abnormality of the ankle, Abnormal shoulder morp... ORPHA:66627
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Cutaneous anergy, Pancytopenia, Hypersplenism, Splenomegaly, Decreased helper T cell proportion OMIM:183350
Inflammatory Bowel Disease 13
Inflammation of the large intestine OMIM:612244
Inflammatory Bowel Disease (Crohn Disease) 19
Inflammation of the large intestine OMIM:612278
Paget Disease Of Bone 2, Early-Onset
Fractures of the long bones, Sclerosis of skull base, Femoral bowing, Increased susceptibility to... OMIM:602080
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Decreased circulating IgG level, Abnormal T cell count, Elevated circulating hepatic transaminase... ORPHA:331206
Gamma-Heavy Chain Disease
Rheumatoid arthritis, Abnormal lymphocyte morphology, Splenomegaly, Skin rash, Autoimmune hemolyt... ORPHA:100026
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Delayed epiphyseal ossification, Fibular bowing, Hypophosphatemia, Rickets, Femoral bowing, Hypoc... OMIM:264700
Immunodeficiency 7
Failure to thrive, Recurrent otitis media, Hypereosinophilia, Autoimmunity, Splenomegaly, Autoimm... OMIM:615387
Cholesteryl Ester Storage Disease
Hepatic bridging fibrosis, Diarrhea, Acute hepatic failure, Hepatosplenomegaly, Hypersplenism, In... OMIM:278000
Erdheim-Chester Disease
Abnormal epiphysis morphology, Osteomyelitis, Skin rash, Joint swelling, Weight loss, Anemia, Inc... ORPHA:35687
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To
Bone marrow hypocellularity, Eczematoid dermatitis, Leukopenia, Acute myeloid leukemia, Monocytos... OMIM:616871
Neutropenia, Severe Congenital, 10, Autosomal Recessive
Anorectal abscess, Monocytosis, Thrombocytopenia, Neutropenia, Anemia OMIM:620534
Juvenile Arthritis
Leukocytosis, Skin rash, Thrombocytosis OMIM:618795
Leishmaniasis
Elevated circulating hepatic transaminase concentration, Pancytopenia, Leukopenia, Splenomegaly, ... ORPHA:507
Vitamin D-Dependent Rickets, Type 2A
Delayed epiphyseal ossification, Subperiosteal bone resorption, Rickets, Failure to thrive, Bulgi... OMIM:277440
Paget Disease Of Bone 4
Osteolysis, Bone pain OMIM:606263
Fibrodysplasia Ossificans Progressiva
Synostosis of joints, Limitation of joint mobility, Failure to thrive, Ectopic ossification in li... ORPHA:337
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality
Bone marrow hypocellularity, Abnormal neutrophil morphology, Leukopenia, Abnormal erythrocyte mor... ORPHA:86841
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Failure to thrive, Elevated circulating aspartate aminotransferase concentration, Decreased plasm... OMIM:619048
Immunodeficiency 32B
Hypoalbuminemia, Pneumonia, Neutrophilia, Failure to thrive, Impaired oxidative burst, Abnormal c... OMIM:226990
Immunodeficiency 8 With Lymphoproliferation
Recurrent otitis media, Lymphopenia, Complete or near-complete absence of specific antibody respo... OMIM:615401
Patent Ductus Venosus
Hypergalactosemia, Hyperammonemia, Hepatic steatosis, Decreased liver function OMIM:601466
Immunodeficiency 113 With Autoimmunity And Autoinflammation
Minimal change glomerulonephritis, Intraalveolar phospholipid accumulation, Eczematoid dermatitis... OMIM:620565
Peeling Skin Syndrome 1
Increased circulating IgE level, Eosinophilia, Erythroderma, Short stature, Pruritus OMIM:270300
Benign Cephalic Histiocytosis
Inflammatory abnormality of the skin, Histiocytosis, Skin rash ORPHA:157997
Fibrous Dysplasia Of Bone
Osteomalacia, Abnormal tibia morphology, Bowing of the long bones, Hypophosphatemia, Abnormal mor... ORPHA:249
Citrullinemia, Type Ii, Neonatal-Onset
Hypermethioninemia, Intrahepatic cholestasis, Portal fibrosis, Failure to thrive, Decreased HDL c... OMIM:605814
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type
Abnormal cortical bone morphology, Splenomegaly, Limb undergrowth, Abnormal limb bone morphology,... ORPHA:2204
Roifman Syndrome
Recurrent pneumonia, Eczematoid dermatitis, Recurrent otitis media, Postnatal growth retardation,... ORPHA:353298
Congenital Disorder Of Glycosylation, Type Ia
Hypoalbuminemia, Osteopenia, Decreased circulating IgG level, Failure to thrive, Hypocholesterole... OMIM:212065
Congenital Disorder Of Glycosylation, Type Iir
Elevated circulating hepatic transaminase concentration, Micronodular cirrhosis, Decreased liver ... OMIM:301045
Epiphyseal Dysplasia, Multiple, 5
Epiphyseal dysplasia, Metaphyseal irregularity, Arthralgia of the hip, Broad femoral neck, Hypopl... OMIM:607078
Triokinase And Fmn Cyclase Deficiency Syndrome
Hypoalbuminemia, Failure to thrive in infancy, Hepatic steatosis, Pancreatitis, Elevated circulat... OMIM:618805
Familial Cold Autoinflammatory Syndrome 2
Recurrent aphthous stomatitis, Leukocytosis, Splenomegaly, Skin rash, Lymphadenopathy, Arthritis,... OMIM:611762
Citrullinemia, Type Ii, Adult-Onset
Hepatic fibrosis, Portal inflammation, Ballooning hepatocyte degeneration, Hepatic steatosis, Hyp... OMIM:603471
Sclerosteosis
Craniofacial hyperostosis, Finger syndactyly, Curved distal phalanges of the hand, Abnormal corti... ORPHA:3152
Immunodeficiency 36 With Lymphoproliferation
Decreased circulating IgG level, Growth delay, Lymphopenia, Decreased circulating IgA level, Auto... OMIM:616005
Immunodeficiency 31C
Osteopenia, Growth delay, Chronic mucocutaneous candidiasis, Eczematoid dermatitis, Osteomyelitis... OMIM:614162
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor
Delayed epiphyseal ossification, Rickets, Bulging epiphyses, Rickets of the lower limbs, Genu val... OMIM:600785
Lymphoproliferative Syndrome 2
Recurrent pneumonia, Aplastic anemia, Hemophagocytosis, Ascites, Hepatosplenomegaly, Pancytopenia... OMIM:615122
B-Cell Expansion With Nfkb And T-Cell Anergy
Decreased specific antibody response to polysaccharide vaccine, Decreased circulating IgA level, ... OMIM:616452
Hip Dysplasia, Beukes Type
Abnormal epiphysis morphology, Broad femoral neck, Abnormality of the epiphysis of the femoral he... ORPHA:2114
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Hepatic fibrosis, Inflammation of the large intestine, Elevated circulating hepatic transaminase ... OMIM:615895
Brachydactylous Dwarfism, Mseleni Type
Severe short stature, Osteopenia, Hip osteoarthritis, Abnormality of the ankle, Osteoarthritis of... ORPHA:2619
Neutropenia, Chronic Familial
Periodontitis, Increased circulating antibody level, Neutropenia, Clubbing, Clubbing of fingers OMIM:162700
Autoimmune Lymphoproliferative Syndrome
Systemic lupus erythematosus, Increased circulating IgE level, Lymphopenia, Hypersplenism, Decrea... ORPHA:3261
Osteogenesis Imperfecta, Type Xxii
Slender long bone, Abnormal blood phosphate concentration, Intrauterine growth retardation, Bowin... OMIM:619795
Weismann-Netter Syndrome
Severe short stature, Aplasia/Hypoplasia of the radius, Abnormal tibia morphology, Abnormal hip b... ORPHA:3344
Autoinflammation With Episodic Fever And Lymphadenopathy
Recurrent tonsillitis, Microcytic anemia, Splenomegaly, Antinuclear antibody positivity, Lymphade... OMIM:618852
Glycoprotein Storage Disease
Gout, Splenomegaly OMIM:232900
Xanthoma Disseminatum
Osteolysis ORPHA:158003
Agammaglobulinemia 8B, Autosomal Recessive
Decreased circulating IgG level, Partial absence of specific antibody response to tetanus vaccine... OMIM:619824
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Lymphopenia, Intrauterine growth retardation, Psoriasiform dermatitis, Interface hepatitis, Autoi... OMIM:243150
Immunodeficiency With Hyper-Igm, Type 1
Enteroviral encephalitis, Increased circulating IgA level, Cirrhosis, Neutropenia, Hepatomegaly, ... OMIM:308230
Mast Cell Sarcoma
Mastocytosis, Splenomegaly, Weight loss, Lymphadenopathy, Hepatomegaly, Mediastinal lymphadenopathy ORPHA:66661
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Osteopenia, Erlenmeyer flask deformity of the femurs, Hypocholesterolemia, Hypersplenism, Splenom... OMIM:610539
Hyperostosis Corticalis Generalisata
Generalized osteosclerosis, Abnormal cortical bone morphology, Cranial hyperostosis, Diaphyseal u... ORPHA:3416
Maffucci Syndrome
Osteolysis, Short stature, Multiple enchondromatosis, Growth delay, Recurrent fractures, Bone pain ORPHA:163634
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome
Eczematoid dermatitis, Decreased proportion of CD8-positive T cells, Increased circulating IgE le... OMIM:617241
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Bone marrow hypocellularity, Eczematoid dermatitis, Recurrent otitis media, Lymphopenia, Pancytop... OMIM:615688
Melorheostosis With Osteopoikilosis
Osteopoikilosis, Abnormal cortical bone morphology, Complete duplication of the distal phalanges ... ORPHA:1879
Immunodeficiency, Common Variable, 8, With Autoimmunity
Inflammation of the large intestine, Recurrent otitis media, Pancytopenia, Erythema nodosum, Auto... OMIM:614700
Nodular Lymphocyte Predominant Hodgkin Lymphoma
Splenomegaly, Weight loss, Lymphadenopathy, Hepatomegaly, Pruritus ORPHA:86893
Immunodeficiency 114, Folate-Responsive
Decreased circulating IgG level, Atopic dermatitis, Increased circulating IgE level, Lymphopenia,... OMIM:620603
Endosteal Hyperostosis, Worth Type
Craniofacial hyperostosis, Abnormal cortical bone morphology, Generalized osteosclerosis, Clavicu... ORPHA:2790
Agammaglobulinemia 9, Autosomal Recessive
Eczematoid dermatitis, Failure to thrive, Agammaglobulinemia, Seborrheic dermatitis, Absent circu... OMIM:619693
Reticuloendotheliosis, X-Linked
Anemia, Jaundice, Hepatosplenomegaly, Lymphadenopathy OMIM:312500
Classic Mycosis Fungoides
Eczematoid dermatitis, Abnormal lymphocyte morphology, Skin rash, Splenomegaly, Lymphadenopathy, ... ORPHA:2584
Coronary Artery Disease, Autosomal Dominant 2
Osteoporosis, Increased LDL cholesterol concentration, Gout, Hypertriglyceridemia OMIM:610947
Sapho Syndrome
Inflammation of the large intestine, Craniofacial osteosclerosis, Osteomyelitis, Psoriasiform der... ORPHA:793
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Osteopenia, Carpal osteolysis, Pterygium, Abnormal hand morphology, Osteolysis involving tarsal b... ORPHA:371428
Leukocyte Adhesion Deficiency, Type Iii
Extramedullary hematopoiesis, Abnormal lymph node morphology, Hepatosplenomegaly, Leukocytosis, S... OMIM:612840
Hypophosphatemic Rickets, X-Linked Recessive
Delayed epiphyseal ossification, Rickets, Bulging epiphyses, Osteomalacia, Enlargement of the wri... OMIM:300554
Isolated Agammaglobulinemia
Pneumonia, Failure to thrive, Abnormal lymphocyte morphology, Otitis media, Skin rash, Clinodacty... ORPHA:229717
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive
Pneumonia, Failure to thrive, Failure to thrive secondary to recurrent infections, Panhypogammagl... OMIM:601457
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Decreased proportion of memory B cells, Hepatosplenomegaly, Pancytopenia, Abnormal circulating in... ORPHA:79124
Farber Lipogranulomatosis
Osteolysis involving bones of the feet, Failure to thrive, Splenomegaly, Joint swelling, Lipogran... OMIM:228000
Immunodeficiency 38 With Basal Ganglia Calcification
Axillary lymphadenopathy, Inguinal lymphadenopathy, Lymphadenopathy OMIM:616126
Q Fever
Pneumonia, Granuloma, Hepatitis, Osteomyelitis, Hepatosplenomegaly, Cholecystitis, Splenomegaly, ... ORPHA:781
Idiopathic Hypereosinophilic Syndrome
Inflammatory abnormality of the skin, Swelling of proximal interphalangeal joints, Hepatosplenome... ORPHA:3260
Cinca Syndrome
Abnormality of neutrophils, Joint dislocation, Growth delay, Abnormal joint morphology, Abnormali... ORPHA:1451
Familial Partial Lipodystrophy, Köbberling Type
Hepatomegaly, Pancreatitis, Hepatic steatosis, Lipoatrophy ORPHA:79084
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Diarrhea, Cholestasis, Hepatosplenomegaly, Hyperbilirubinemia, Increased LDL cholesterol concentr... ORPHA:247598
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive
Elevated circulating C-reactive protein concentration, Anemia, Leukocytosis, Ulcerative colitis OMIM:619398
Mixed Connective Tissue Disease
Joint stiffness, Leukopenia, Skin rash, Splenomegaly, Joint swelling, Myositis, Gastritis, Kerato... ORPHA:809
Short Stature, Dauber-Argente Type
Osteopenia, Decreased fibular diameter, Postnatal growth retardation, Increased insulin like grow... OMIM:619489
Lipodystrophy, Familial Partial, Type 4
Lipodystrophy, Lipoatrophy, Hepatic steatosis, Hypertriglyceridemia OMIM:613877
Hemochromatosis, Type 3
Increased circulating iron concentration, Increased circulating ferritin concentration, Lymphopen... OMIM:604250
Congenital Insensitivity To Pain With Severe Intellectual Disability
Small for gestational age, Keratitis, Osteomyelitis, Tibial bowing, Congenital bilateral hip disl... ORPHA:453510
Lipodystrophy, Familial Partial, Type 6
Abnormal circulating lipid concentration, Hyperlipidemia, Hepatic steatosis, Elevated circulating... OMIM:615980
Netherton Syndrome
Allergic rhinitis, Decreased circulating IgG level, Eczematoid dermatitis, Failure to thrive, Inc... OMIM:256500
Ramon Syndrome
Osteolysis, Failure to thrive ORPHA:3019
Immunodeficiency With Hyper-Igm, Type 5
Decreased circulating IgG level, Decreased circulating IgA level, Impaired Ig class switch recomb... OMIM:608106
Keratoderma Hereditarium Mutilans
Autoamputation of digits, Osteolysis ORPHA:494
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Recurrent pneumonia, Abnormal CD4:CD8 ratio, Recurrent aphthous stomatitis, Splenomegaly, Abscess... OMIM:150550
Autosomal Recessive Hypophosphatemic Rickets
Renal hypophosphatemia, Abnormal trabecular bone morphology, Pseudo-fractures, Polyarticular arth... ORPHA:289176
Gaucher Disease Type 3
Delayed skeletal maturation, Pancytopenia, Increased susceptibility to fractures, Splenomegaly, I... ORPHA:77261
Diaphyseal Medullary Stenosis With Malignant Fibrous Histiocytoma
Patchy osteosclerosis, Osteopenia, Diaphyseal cortical sclerosis, Fractures of the long bones, Pa... OMIM:112250
Fanconi-Like Syndrome
Osteomyelitis, Pancytopenia OMIM:227850
Rothmund-Thomson Syndrome
Abnormal trabecular bone morphology, Osteopenia, Aplasia/Hypoplasia of the radius, Aplastic anemi... ORPHA:2909
Osteopetrosis, Autosomal Recessive 7
Abnormal trabecular bone morphology, Decreased circulating IgG level, Recurrent pneumonia, Decrea... OMIM:612301
Dietary Iron Overload Disease
Hepatic bridging fibrosis, Hepatic fibrosis, Hepatitis, Abnormal pancreas morphology, Hepatic per... ORPHA:139507
Squamous Cell Carcinoma Of The Esophagus
Lymphadenopathy ORPHA:99977
Cinca Syndrome
Patellar overgrowth, Hepatosplenomegaly, Leukocytosis, Skin rash, Anemia, Eosinophilia, Arthritis... OMIM:607115
Reticular Dysgenesis
Aplasia/Hypoplasia of the thymus, Failure to thrive, Leukopenia, Skin rash, Weight loss, Anemia, ... ORPHA:33355
Generalized Pseudohypoaldosteronism Type 1
Atopic dermatitis, Failure to thrive in infancy, Osteomyelitis, Proportionate short stature, Hypo... ORPHA:171876
Immunodeficiency 112
Decreased circulating IgG level, Reduced natural killer cell count, Chronic mucocutaneous candidi... OMIM:620449
Hypophosphatemic Rickets, X-Linked Dominant
Shortening of the talar neck, Abnormal pelvic girdle bone morphology, Rickets, Osteomalacia, Trap... OMIM:307800
Neutrophilia, Hereditary
Splenomegaly, Neutrophilia OMIM:162830
Parenteral Nutrition-Associated Cholestasis
Hepatic fibrosis, Cholelithiasis, Hepatic failure, Elevated circulating hepatic transaminase conc... ORPHA:567983
Immunodeficiency 54
Reduced natural killer cell count, Failure to thrive, Postnatal growth retardation, Intrauterine ... OMIM:609981
Caffey Disease
Cortical irregularity, Periosteal thickening of long tubular bones, Increased circulating antibod... ORPHA:1310
Rothmund-Thomson Syndrome Type 2
Aplastic anemia, Patellar aplasia, Aplasia/hypoplasia involving bones of the upper limbs, Calcino... ORPHA:221016
Proteasome-Associated Autoinflammatory Syndrome 3
Elevated circulating hepatic transaminase concentration, Failure to thrive, Lymphopenia, Splenome... OMIM:617591
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Abnormally low T cell receptor excision circle level, Decreased circulating IgG level, Recurrent ... OMIM:618986
Congenital Erythropoietic Porphyria
Seborrhoeic blepharitis, Osteopenia, Leukopenia, Erythroid hyperplasia, Abnormal circulating porp... ORPHA:79277
Essential Thrombocythemia
Acute leukemia, Abnormality of thrombocytes, Leukocytosis, Splenomegaly, Abnormal platelet morpho... ORPHA:3318
Immunodeficiency 10
Decreased circulating IgG level, Recurrent pneumonia, Recurrent otitis media, Decreased circulati... OMIM:612783
Spondyloepimetaphyseal Dysplasia, Irapa Type
Synostosis of carpal bones, Limitation of joint mobility, Abnormal epiphysis morphology, Abnormal... ORPHA:93351
Cholestasis, Progressive Familial Intrahepatic, 10
Hypoalbuminemia, Portal fibrosis, Failure to thrive, Increased total bilirubin, Elevated circulat... OMIM:619868
Pfapa Syndrome
Splenomegaly, Infectious encephalitis, Weight loss, Lymphadenopathy, Arthritis, Hepatomegaly ORPHA:42642
Rothmund-Thomson Syndrome Type 1
Aplastic anemia, Patellar aplasia, Calcinosis, Neutropenia, Leukemia, Short metacarpal, Genu varu... ORPHA:221008
Selective Igm Deficiency
Allergic rhinitis, Rheumatoid arthritis, Lymphadenitis, Systemic lupus erythematosus, Decreased p... ORPHA:331235
Short Chain Acyl-Coa Dehydrogenase Deficiency
Elevated circulating acylcarnitine concentration, Hepatic steatosis, Failure to thrive ORPHA:26792
Lipodystrophy, Familial Partial, Type 3
Decreased HDL cholesterol concentration, Hepatic steatosis, Reduced subcutaneous adipose tissue, ... OMIM:604367
Hemochromatosis, Type 4
Increased circulating ferritin concentration, Hepatic steatosis, Cirrhosis, Osteoarthritis, Hepat... OMIM:606069
Mendelian Susceptibility To Mycobacterial Diseases Due To Partial Irf8 Deficiency
Lymphadenopathy ORPHA:319600
C1Q Deficiency 2
Discoid lupus rash, Recurrent otitis media, Malar rash, Chilblains, Anemia, Arthritis, Elevated c... OMIM:620321
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency
Acute hepatic steatosis, Hepatitis, Cholestasis, Obesity, Increased LDL cholesterol concentration... ORPHA:209902
Lipodystrophy, Familial Partial, Type 5
Hepatic steatosis, Lipodystrophy, Hypertriglyceridemia, Hepatomegaly, Increased C-peptide level OMIM:615238
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Large for gestational age, Truncal obesity, Increased hepatic glycogen content ORPHA:293964
Bullous Diffuse Cutaneous Mastocytosis
Cutaneous mastocytosis, Pruritus, Erythroderma ORPHA:280785
Primary Myelofibrosis
Extramedullary hematopoiesis, Hepatosplenomegaly, Pancytopenia, Leukocytosis, Splenomegaly, Throm... ORPHA:824
Adult-Onset Still Disease
Neutrophilia, Bone marrow hypocellularity, Hepatitis, Abnormal circulating lipid concentration, I... ORPHA:829
Leukocyte Adhesion Deficiency, Type I
Periodontitis, Chronic mucocutaneous candidiasis, Osteomyelitis, Leukocytosis, Rectal abscess, El... OMIM:116920
Congenital Bile Acid Synthesis Defect Type 2
Giant cell hepatitis, Hepatic failure, Elevated circulating hepatic transaminase concentration, F... ORPHA:79303
Bone Marrow Failure Syndrome 4
Bone marrow hypocellularity, Rhizomelia, Eczematoid dermatitis, Leukopenia, Thrombocytopenia, Ane... OMIM:618116
Systemic Sclerosis
Finger swelling, Abnormal phalangeal joint morphology of the hand, Osteomyelitis, Joint swelling,... ORPHA:90291
Kaposiform Lymphangiomatosis
Fractures of the long bones, Hepatosplenomegaly, Abnormal femur morphology, Splenomegaly, Abnorma... ORPHA:464329
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome
Hepatic steatosis, Hypertriglyceridemia ORPHA:436182
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Agammaglobulinemia, Lymphopenia, Metaphyseal chondrodysplasia, Hypoplasia of the thymus OMIM:200900
Idiopathic Copper-Associated Cirrhosis
Cirrhosis, Hepatic steatosis, Increased circulating copper concentration, Copper accumulation in ... ORPHA:209919
Grant Syndrome
Abnormality of the glenoid fossa, Abnormal pelvic girdle bone morphology, Joint dislocation, Abno... ORPHA:2097
Cranio-Osteoarthropathy
Clubbing of toes, Deviation of finger, Eczematoid dermatitis, Abnormal tibia morphology, Joint st... ORPHA:1525
Neutropenia, Severe Congenital, 2, Autosomal Dominant
B lymphocytopenia, Neutropenia, Monocytosis OMIM:613107
Griscelli Syndrome
Bone marrow hypocellularity, Hepatitis, Ascites, Leukopenia, Splenomegaly, Lymphadenopathy, Throm... ORPHA:381
Pyle Disease
Genu valgum, Limited elbow extension, Cubitus valgus, Thin bony cortex, Metaphyseal dysplasia, Me... OMIM:265900
Desbuquois Dysplasia 1
Radial deviation of the 2nd finger, Broad first metatarsal, Talipes equinovarus, Flattened epiphy... OMIM:251450
Mandibuloacral Dysplasia With Type A Lipodystrophy
Short distal phalanx of finger, Limitation of joint mobility, Hyperlipidemia, Acroosteolysis of d... ORPHA:90153
Dent Disease 1
Delayed epiphyseal ossification, Rickets, Bulging epiphyses, Osteomalacia, Enlargement of the wri... OMIM:300009
Immunodeficiency With Hyper-Igm, Type 2
Decreased circulating IgG level, Decreased circulating IgA level, Complete or near-complete absen... OMIM:605258
Fusariosis
Pneumonia, Keratitis, Granuloma, Brain abscess, Fasciitis, Osteomyelitis, Abnormality of the sple... ORPHA:228119
Deafness-Lymphedema-Leukemia Syndrome
Bone marrow hypocellularity, Acute leukemia, Leukocytosis, Splenomegaly, Weight loss, Lymphadenop... ORPHA:3226
Dehydrated Hereditary Stomatocytosis 2
Increased mean corpuscular volume, Increased mean corpuscular hemoglobin concentration, Hyperbili... OMIM:616689
Carnitine Deficiency, Systemic Primary
Vomiting, Diarrhea, Failure to thrive, Decreased circulating carnitine concentration, Elevated ci... OMIM:212140
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Broad thumb, Failure to thrive, Clinodactyly, Lymphopenia, Hepatosplenomegaly, Leukopenia, Otitis... OMIM:612541
Boutonneuse Fever
Elevated circulating hepatic transaminase concentration, Cervical lymphadenopathy, Leukopenia, Sk... ORPHA:83313
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome
Hyperbilirubinemia, Hip contracture, Osteolysis involving bones of the upper limbs, Thrombocytope... ORPHA:464321
Combined Oxidative Phosphorylation Deficiency 52
Elevated circulating aspartate aminotransferase concentration, Hyperglycinemia, Hepatic steatosis... OMIM:619386
Metatropic Dysplasia
Severe short stature, Coarse metaphyseal trabecularization, Abnormal enchondral ossification, Mic... ORPHA:2635
Combined Oxidative Phosphorylation Deficiency 9
Failure to thrive, Elevated circulating aspartate aminotransferase concentration, Hepatic steatos... OMIM:614582
Immunodeficiency 60 And Autoimmunity
Decreased circulating IgG level, Decreased proportion of memory B cells, Bronchiectasis, Pancytop... OMIM:618394
Lipe-Related Familial Partial Lipodystrophy
Increased adipose tissue around the neck, Increased intraabdominal fat, Hepatic steatosis, Elevat... ORPHA:435660
Immunodeficiency 12
Delayed skeletal maturation, Recurrent aphthous stomatitis, Complete or near-complete absence of ... OMIM:615468
Ddost-Cdg
Gastroesophageal reflux, Elevated circulating hepatic transaminase concentration, Failure to thri... ORPHA:300536
Congenital Amegakaryocytic Thrombocytopenia
Abnormal hemoglobin, Decreased skull ossification, Thrombocytopenia, Anemia, Short stature ORPHA:3319
Agammaglobulinemia 7, Autosomal Recessive
Reduced natural killer cell count, Panhypogammaglobulinemia, Agammaglobulinemia, Neutropenia, Abn... OMIM:615214
Cholestasis, Progressive Familial Intrahepatic, 12
Cholestasis, Elevated circulating aspartate aminotransferase concentration, Splenomegaly, Elevate... OMIM:620010
Cidec-Related Familial Partial Lipodystrophy
Hepatic steatosis, Loss of gluteal subcutaneous adipose tissue, Lipodystrophy, Pancreatitis, Loss... ORPHA:435651
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Vomiting, Diarrhea, Elevated circulating hepatic transaminase concentration, Decreased liver func... ORPHA:42
Mandibuloacral Dysplasia With Type B Lipodystrophy
Abnormal fingertip morphology, Short distal phalanx of finger, Hyperlipidemia, Acroosteolysis of ... ORPHA:90154
Angioosteohypotrophic Syndrome
Abnormal trabecular bone morphology, Upper limb undergrowth, Aplasia/hypoplasia involving bones o... ORPHA:75508
Peroxisomal Acyl-Coa Oxidase Deficiency
Elevated circulating hepatic transaminase concentration, Hepatomegaly, Very long chain fatty acid... OMIM:264470
Roifman Syndrome
Recurrent pneumonia, Eczematoid dermatitis, Recurrent otitis media, Postnatal growth retardation,... OMIM:616651
Combined Immunodeficiency, X-Linked
Pneumonia, Decreased circulating IgG level, Abnormal T cell count, Decreased proportion of CD8-po... OMIM:312863
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Vomiting, Elevated circulating hepatic transaminase concentration, Hyperammonemia, Elevated circu... OMIM:600649
Immunodeficiency, Common Variable, 6
Decreased specific pneumococcal antibody level, Abnormal T cell count, Chronic decreased circulat... OMIM:613496
Congenital Atransferrinemia
Anemia, Arthritis ORPHA:1195
Ck Syndrome
Abnormal digit morphology, Slender build, Abnormal cortical bone morphology, Joint hypermobility OMIM:300831
Eosinophilopenia
Autoimmunity OMIM:131430
Cervical Hypertrichosis-Peripheral Neuropathy Syndrome
Periostitis, Osteomyelitis ORPHA:2218
Agammaglobulinemia, X-Linked
Recurrent otitis media, Lymph node hypoplasia, Prostatitis, Neutropenia, Epididymitis, Pyoderma, ... OMIM:300755
Severe Neurodegenerative Syndrome With Lipodystrophy
Generalized lipodystrophy, Hepatic steatosis, Reduced subcutaneous adipose tissue, Cirrhosis, Hyp... ORPHA:363400
Purine Nucleoside Phosphorylase Deficiency
Pneumonia, Failure to thrive, Impaired T cell function, Lymphopenia, Lymph node hypoplasia, Abnor... OMIM:613179
Porphyria, Congenital Erythropoietic
Osteopenia, Joint contracture of the hand, Elevated circulating uroporphyrin concentration, Patho... OMIM:263700
Thrombocythemia 3
Thrombocytosis OMIM:614521
Citrullinemia Type Ii
Hypoalbuminemia, Hepatic fibrosis, Diarrhea, Vomiting, Decreased body mass index, Elevated circul... ORPHA:247585
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial
Hepatic failure, Hepatic steatosis OMIM:261650
Kimura Disease
Increased circulating IgE level, Eosinophilia, Follicular hyperplasia, Lymphadenopathy ORPHA:482
Paget Disease Of Bone 3
Patchy osteosclerosis, Osteolysis, Fractures of the long bones, Bone pain OMIM:167250
Spondyloepiphyseal Dysplasia Tarda
Enlarged metaphyses, Finger swelling, Limitation of joint mobility, Premature osteoarthritis, Dys... ORPHA:93284
Akt2-Related Familial Partial Lipodystrophy
Increased intraabdominal fat, Hepatic steatosis, Lipodystrophy, Hypertriglyceridemia, Hepatomegaly ORPHA:79085
Familial Cold Autoinflammatory Syndrome 1
Leukocytosis, Skin rash, Arthritis, Elevated circulating C-reactive protein concentration, Conjun... OMIM:120100
Mucolipidosis Type Iii Alpha/Beta
Recurrent otitis media, Postnatal growth retardation, Joint stiffness, Short stature, Generalized... ORPHA:423461
Wormian Bone-Multiple Fractures-Dentinogenesis Imperfecta-Skeletal Dysplasia
Toe clinodactyly, Limitation of joint mobility, Upper limb undergrowth, Pathologic fracture, Abno... ORPHA:166277
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities
Disproportionate short stature, Lymphopenia, Hepatic cysts, Eosinophilia, Erythroderma, Decreased... OMIM:617425
Incontinentia Pigmenti
Keratitis, Finger syndactyly, Deviation of finger, Camptodactyly of finger, Abnormal hand morphol... ORPHA:464
Endove Syndrome, Limb-Brain Type
Toe syndactyly, Talar aplasia, Failure to thrive, Osteomyelitis, Joint hypermobility, Aplasia of ... OMIM:619218
Acquired Partial Lipodystrophy
Lipoatrophy, Hepatic steatosis ORPHA:79087
Trichohepatoenteric Syndrome 1
Hypoalbuminemia, Hypermethioninemia, Increased circulating iron concentration, Small for gestatio... OMIM:222470
Specific Granule Deficiency 2
Osteopenia, Recurrent pneumonia, Failure to thrive, Sandal gap, Recurrent otitis media, Absent ne... OMIM:617475
Combined Oxidative Phosphorylation Deficiency 21
Hyperprolinemia, Hyperalaninemia, Hepatic steatosis OMIM:615918
Ataxia-Pancytopenia Syndrome
Acute myelomonocytic leukemia, Pancytopenia, Abnormal macrophage morphology, Splenomegaly, Hypopl... ORPHA:2585
Autoinflammation, Panniculitis, And Dermatosis Syndrome
Failure to thrive in infancy, Leukocytosis, Panniculitis, Skin rash, Increased proportion of CD4-... OMIM:617099
Multiple Epiphyseal Dysplasia Due To Collagen 9 Anomaly
Fragmentation of the metacarpal epiphyses, Abnormality of the ankle, Arthralgia of the hip, Abnor... ORPHA:166002
Ehlers-Danlos Syndrome, Arthrochalasia Type, 1
Osteopenia, Joint subluxation, Contracture of the proximal interphalangeal joint of the 2nd finge... OMIM:130060
Immunodeficiency 84
Perianal abscess, Splenomegaly, B lymphocytopenia OMIM:619437
Pseudoachondroplasia
Delayed epiphyseal ossification, Radial metaphyseal irregularity, Genu valgum, Carpal bone hypopl... OMIM:177170
Immunodeficiency 58
Allergic rhinitis, Recurrent pneumonia, Bronchiectasis, Cutaneous abscess, Eczematoid dermatitis,... OMIM:618131
Congenital Disorder Of Glycosylation, Type Iio
Cholestatic liver disease, Hepatic failure, Elevated circulating hepatic transaminase concentrati... OMIM:616828
Thrombocythemia 1
Impaired ADP-induced platelet aggregation, Splenomegaly, Thrombocytosis, Impaired collagen-induce... OMIM:187950
Thrombocythemia 2
Thrombocytosis OMIM:601977
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)
Hypoalbuminemia, Depletion of mitochondrial DNA in liver, Increased total bilirubin, Cholestasis,... OMIM:618528
Eng-Strom Syndrome
Camptodactyly of finger, Intrauterine growth retardation, Brachydactyly, Arthritis, Short stature ORPHA:1937
Alpha-1-Antitrypsin Deficiency
Hepatic failure, Reduced circulating alpha-1-antitrypsin concentration, Hepatitis, Cholestasis, C... ORPHA:60
Systemic-Onset Juvenile Idiopathic Arthritis
Autoimmunity, Skin rash, Splenomegaly, Hepatomegaly, Lymphadenopathy, Arthritis, Juvenile rheumat... ORPHA:85414
Autoinflammatory Disease, Systemic, With Vasculitis
Cholestasis, Hepatosplenomegaly, Abnormal circulating IgG level, Anti-Sm antibody positivity, Lup... OMIM:620376
Nestor-Guillermo Progeria Syndrome
Growth delay, Failure to thrive, Pathologic fracture, Joint stiffness, Mandibular osteolysis, Lim... OMIM:614008
Hypophosphatasia
Failure to thrive in infancy, Abnormal metaphysis morphology, Bowing of the long bones, Short sta... ORPHA:436
Autoinflammation With Infantile Enterocolitis
Reduced natural killer cell count, Failure to thrive, Reduced natural killer cell activity, Pancy... OMIM:616050
Congenital Toxoplasmosis
Elevated circulating hepatic transaminase concentration, Ascites, Failure to thrive in infancy, I... ORPHA:858
Papillon-Lefèvre Syndrome
Periodontitis, Osteolysis, Pustule, Arachnodactyly, Chronic furunculosis, Recurrent skin infectio... ORPHA:678
Autoinflammation With Arthritis And Dyskeratosis
Failure to thrive, Hypereosinophilia, Splenomegaly, Autoimmune hemolytic anemia, Punctate keratit... OMIM:617388
3-Hydroxy-3-Methylglutaric Aciduria
Leukopenia, Leukocytosis, Hyperammonemia, Hyperuricemia, Weight loss, Thrombocytosis, Anemia, Acu... ORPHA:20
Polycythemia Vera
Increased hematocrit, Leukocytosis, Splenomegaly, Increased red blood cell mass, Increased circul... OMIM:263300
Prolidase Deficiency
Recurrent pneumonia, Eczematoid dermatitis, Failure to thrive, Systemic lupus erythematosus, Elev... OMIM:170100
Metaphyseal Dysplasia, Braun-Tinschert Type
Radial bowing, Sclerosis of middle finger phalanx, Broad long bones, Humerus varus, Fibular bowin... ORPHA:85188
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Periportal fibrosis, Gastroesophageal reflux, Decreased circulating carnitine concentration, Hepa... OMIM:201475
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Anemia, Hepatomegaly, Splenomegaly, Persistence of hemoglobin F ORPHA:46532
Osteomesopyknosis
Increased bone mineral density, Abnormal cortical bone morphology ORPHA:2777
Obesity And Hypopigmentation
Obesity, Hepatic steatosis OMIM:620195
Mendelian Susceptibility To Mycobacterial Diseases Due To Complete Il12Rb1 Deficiency
Pneumonia, Abnormal circulating interleukin concentration, Salmonella osteomyelitis, Lymphadenitis ORPHA:319552
Immune Dysregulation, Autoimmunity, And Autoinflammation
Increased circulating interleukin 8 concentration, Increased circulating interleukin 6 concentrat... OMIM:620514
Mitochondrial Complex Iv Deficiency, Nuclear Type 6
Hepatic steatosis, Bloody diarrhea OMIM:615119
X-Linked Hypophosphatemia
Limitation of joint mobility, Genu valgum, Bowing of the long bones, Hypophosphatemia, Tooth absc... ORPHA:89936
Hypereosinophilic Syndrome, Idiopathic
Splenomegaly, Eosinophilia, Myeloproliferative disorder, Hepatomegaly, Pruritus OMIM:607685
Immunodeficiency 57 With Autoinflammation
Reduced natural killer cell count, Partial absence of specific antibody response to tetanus vacci... OMIM:618108
Inflammatory Skin And Bowel Disease, Neonatal, 1
Failure to thrive, Increased circulating IgE level, Pustule, Erythroderma, Blepharitis OMIM:614328
Papa Syndrome
Crohn's disease, Increased inflammatory response, Increased circulating antibody level, Myositis,... ORPHA:69126
Immunodeficiency, Common Variable, 7
Decreased specific pneumococcal antibody level, Decreased circulating total IgG, Decreased circul... OMIM:614699
Galactose Epimerase Deficiency
Splenomegaly, Weight loss, Hepatomegaly, Jaundice, Growth delay ORPHA:79238
Diabetes Mellitus, Ketosis-Prone
Autoimmunity OMIM:612227
Immunodeficiency 95
Decreased circulating IgG3 level, Lymphopenia, Recurrent viral pneumonia, Increased circulating I... OMIM:619773
Polycythemia Vera
Acute leukemia, Polycythemia, Leukocytosis, Splenomegaly, Weight loss, Thrombocytosis, Myelofibrosis ORPHA:729
Chronic Recurrent Multifocal Osteomyelitis 3
Osteomyelitis, Bone pain, Palmoplantar pustulosis OMIM:259680
Trimethylaminuria
Anemia, Recurrent pneumonia, Splenomegaly, Neutropenia OMIM:602079
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy
Hypochromic anemia, Failure to thrive, Increased circulating IgE level, Leukocytosis, Pancolitis,... OMIM:618213
Mevalonic Aciduria
Elevated circulating hepatic transaminase concentration, Fluctuating splenomegaly, Failure to thr... OMIM:610377
Immunodeficiency 42
Recurrent aphthous stomatitis, Splenomegaly, Hypoplasia of the thymus, Recurrent cutaneous fungal... OMIM:616622
Angel-Shaped Phalangoepiphyseal Dysplasia
Hip osteoarthritis, Pseudoepiphyses of the metacarpals, Premature osteoarthritis, Short stature, ... OMIM:105835
Alpha-Mannosidosis
Synostosis of joints, Craniofacial hyperostosis, Delayed skeletal maturation, Splenomegaly, Bowin... ORPHA:61
Congenital Bile Acid Synthesis Defect Type 1
Elevated circulating hepatic transaminase concentration, Failure to thrive, Neonatal cholestatic ... ORPHA:79301
Desmoid Tumor
Limitation of joint mobility, Osteolysis ORPHA:873
Progressive Pseudorheumatoid Dysplasia
Joint contracture of the hand, Camptodactyly of finger, Joint stiffness, Enlarged interphalangeal... OMIM:208230
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
Pneumonia, Cutaneous anergy, Absent natural killer cells, Failure to thrive, Panhypogammaglobulin... OMIM:600802
Hypermethioninemia Due To Adenosine Kinase Deficiency
Hypermethioninemia, Portal fibrosis, Elevated circulating S-adenosyl-L-homocysteine concentration... OMIM:614300
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies
Broad middle phalanx of finger, Osteopenia, Reduced natural killer cell count, Short distal phala... ORPHA:221139
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome
Elevated circulating hepatic transaminase concentration, Hepatic steatosis, Lipodystrophy, Elevat... OMIM:615381
T-Cell Immunodeficiency With Thymic Aplasia
Abnormally low T cell receptor excision circle level, Recurrent pneumonia, Eczematoid dermatitis,... OMIM:242700
Neuropathy, Hereditary Sensory, Type Id
Osteomyelitis, Autoamputation of digits OMIM:613708
Autoimmune Hepatitis
Gastrointestinal hemorrhage, Inflammation of the large intestine, Elevated circulating hepatic tr... ORPHA:2137
Hajdu-Cheney Syndrome
Osteopenia, Short distal phalanx of finger, Periodontitis, Coarse metaphyseal trabecularization, ... ORPHA:955
Hyper-Ige Syndrome 6, Autosomal Dominant, With Recurrent Infections
Atopic dermatitis, Increased circulating IgE level, Eosinophilic infiltration of the esophagus, E... OMIM:620532
Glycogen Storage Disease Ixb
Diarrhea, Splenomegaly, Hyperuricemia, Increased hepatic glycogen content, Hepatomegaly, Increase... OMIM:261750
Charcot-Marie-Tooth Disease, Axonal, Type 2B
Foot osteomyelitis, Hammertoe OMIM:600882
Zika Virus Disease
Myelitis, Ankle swelling, Wrist swelling, Intrauterine growth retardation, Skin rash, Infectious ... ORPHA:448237
Generalized Pustular Psoriasis
Elevated circulating hepatic transaminase concentration, Lymphopenia, Obesity, Leukocytosis, Palm... ORPHA:247353
Alpha-Mannosidosis, Infantile Form
Pneumonia, Osteopenia, Cranial hyperostosis, Talipes valgus, Bilateral talipes equinovarus, Joint... ORPHA:309282
Melorheostosis
Failure to thrive, Joint stiffness, Ectopic ossification in muscle tissue, Hyperostosis, Arthriti... ORPHA:2485
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Hypoalbuminemia, Depletion of mitochondrial DNA in liver, Hepatic failure, Vomiting, Periportal f... OMIM:251880
Spondyloepimetaphyseal Dysplasia, Isidor-Toutain Type
Enlarged metaphyses, Severe short stature, Lower-limb metaphyseal irregularity, Postnatal growth ... OMIM:618728
Multicentric Reticulohistiocytosis
Cachexia, Histiocytosis, Arthritis ORPHA:139436
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase
Recurrent pancreatitis, Splenomegaly OMIM:118830
Autoinflammatory-Pancytopenia Syndrome
Cholestatic liver disease, Hepatic fibrosis, Granuloma, Hemophagocytosis, Failure to thrive, Hepa... OMIM:619858
Immunodeficiency 18
Recurrent pneumonia, Reduced natural killer cell count, Recurrent otitis media, Lymphopenia, Abno... OMIM:615615
Fibular Hemimelia
Toe syndactyly, Limitation of joint mobility, Short tibia, Limited knee flexion/extension, Finger... ORPHA:93323
Hepatoerythropoietic Porphyria
Seborrhoeic blepharitis, Osteopenia, Erythroid hyperplasia, Abnormal circulating porphyrin concen... ORPHA:95159
Diffuse Cutaneous Systemic Sclerosis
Flexion contracture, Narrow foramen obturatorium, Osteolysis, Arthritis ORPHA:220393
Hyper-Igd Syndrome
Lymphadenitis, Molluscum contagiosum, Hepatosplenomegaly, Leukocytosis, Splenomegaly, Skin rash, ... OMIM:260920
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Inflammatory abnormality of the skin, Increased circulating IgE level, Lymphopenia, Aplasia of th... OMIM:102700
Autoimmune Disease, Multisystem, Infantile-Onset, 1
Eczematoid dermatitis, Exocrine pancreatic insufficiency, Hepatosplenomegaly, Decreased circulati... OMIM:615952
Autoimmune Disease, Multisystem, Infantile-Onset, 3
Decreased specific pneumococcal antibody level, Abnormal T cell count, Decreased circulating IgG ... OMIM:620430
Adenocarcinoma Of The Esophagus
Obesity, Lymphadenopathy ORPHA:99976
Florid Cemento-Osseous Dysplasia
Abnormal trabecular bone morphology, Mandibular osteomyelitis, Abnormal bone structure, Avascular... ORPHA:83451
Infantile Liver Failure Syndrome 1
Elevated circulating hepatic transaminase concentration, Failure to thrive, Acute hepatic failure... OMIM:615438
Wilson Disease
Elevated circulating hepatic transaminase concentration, Failure to thrive, Hepatitis, Acute hepa... ORPHA:905
Beta-Ketothiolase Deficiency
Leukocytosis, Hyperammonemia, Hyperuricemia, Weight loss, Thrombocytosis ORPHA:134
Progressive Osseous Heteroplasia
Limitation of joint mobility, Ectopic ossification in muscle tissue, Brachydactyly, Osteoarthriti... ORPHA:2762
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Hepatic fibrosis, Portal fibrosis, Elevated circulating hepatic transaminase concentration, Failu... ORPHA:369
Lipodystrophy, Familial Partial, Type 2
Increased adipose tissue around the neck, Increased facial adipose tissue, Decreased HDL choleste... OMIM:151660
Ulnar Hemimelia
Abnormal upper limb bone morphology, Hypoplastic scapulae, Short forearm, Radial bowing, Abnormal... ORPHA:93320
Immunoglobulin A Deficiency 2
Autoimmunity OMIM:609529
Wild Type Abeta2M Amyloidosis
Abnormal shoulder morphology, Bone cyst, Arthritis, Arthropathy ORPHA:85446
Listeriosis
Arteritis, Abscess, Pustule, Endocarditis, Osteomyelitis, Peritonitis, Hepatic granulomatosis, Gr... ORPHA:533
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis
Pneumonia, Plasmacytosis, Lymphopenia, Autoimmune hemolytic anemia, Increased circulating antibod... OMIM:247800
Wiskott-Aldrich Syndrome 2
Eczematoid dermatitis, Decreased proportion of CD8-positive T cells, Defective T cell proliferati... OMIM:614493
Methylcobalamin Deficiency Type Cble
Increased mean corpuscular volume, Failure to thrive, Clinodactyly, Postnatal growth retardation,... ORPHA:2169
Immunodeficiency 11A
Decreased proportion of CD4+CD25+ regulatory T cells, Agammaglobulinemia, Reduced antigen-specifi... OMIM:615206
3-Hydroxy-3-Methylglutaryl-Coa Synthase-2 Deficiency
Increased circulating free fatty acid level, Vomiting, Diarrhea, Elevated circulating hepatic tra... OMIM:605911
Anemia, Sideroblastic, 2, Pyridoxine-Refractory
Increased circulating ferritin concentration, Sideroblastic anemia, Hypochromia, Anemia, Elevated... OMIM:205950
Hemoglobin H Disease
HbH hemoglobin, Splenomegaly, Hepatomegaly, Reduced alpha/beta synthesis ratio, Hemolytic anemia OMIM:613978
Vexas Syndrome
Inflammatory abnormality of the skin, Arteritis, Neutrophilic infiltration of the skin, Macrocyti... OMIM:301054
Schimke Immunoosseous Dysplasia
Osteopenia, Shallow acetabular fossae, Hypoplasia of the capital femoral epiphysis, Lymphopenia, ... OMIM:242900
Niemann-Pick Disease, Type B
Sea-blue histiocytosis, Splenomegaly, Hepatomegaly, Thrombocytopenia, Anemia, Bone-marrow foam ce... OMIM:607616
Metaphyseal Chondrodysplasia, Schmid Type
Radial metaphyseal irregularity, Genu varum, Disproportionate short-limb short stature, Obesity, ... ORPHA:174
Liver Failure, Infantile, Transient