Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
tumor necrosis factor
Synonyms:
TNF-alpha,  tumor necrosis factor-alpha,  TNF alpha,  TNFalpha,  DIF,  Tnfsf1a,  Tnfa

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

IMPC Phenotype Summary

Significant
Not Significant
Not tested

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 Tnf mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

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

Disease Similarity of
phenotypes
Matching phenotypes Source
Asthma, Susceptibility To
Asthma OMIM:600807
Migraine With Or Without Aura, Susceptibility To, 1
Vomiting, Nausea OMIM:157300

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

Disease Similarity of
phenotypes
Matching phenotypes Source
Immunodeficiency 34
Severe recurrent varicella, Recurrent mycobacterial infections OMIM:300645
Immunodeficiency 30
Recurrent infections, Recurrent mycobacterial infections OMIM:614891
Immunodeficiency 31B
Herpes simplex encephalitis, Recurrent mycobacterial infections, Recurrent viral infections OMIM:613796
Complement Factor D Deficiency
Recurrent bacterial infections OMIM:613912
Immunodeficiency 28
Recurrent mycobacterial infections OMIM:614889
Neutrophil Actin Dysfunction
Recurrent bacterial infections OMIM:257150
Cephalin Lipidosis
Abnormality of the spleen OMIM:212800
Encephalopathy, Acute, Infection-Induced (Herpes-Specific), Susceptibility To, 1
Recurrent herpes, Herpes simplex encephalitis OMIM:610551
Varicella, Severe Recurrent
Severe recurrent varicella OMIM:600670
Human Coronavirus Sensitivity
Susceptibility to coronavirus 229e OMIM:122460
Leishmaniasis, Tegumentary, Susceptibility To
Tegumentary leishmaniasis susceptibility OMIM:602068
Coxsackievirus B3 Susceptibility
Recurrent viral infections OMIM:120050
Candidiasis, Familial, 4
Recurrent vulvovaginal candidiasis, Onychomycosis OMIM:613108
Complement Component 7 Deficiency
Complement deficiency, Recurrent meningococcal disease, Recurrent Neisserial infections, Decrease... OMIM:610102
Ciliary Discoordination Due To Random Ciliary Orientation
Recurrent infections OMIM:215518
Partial Chromosome Y Deletion
Cryptorchidism, Oligospermia, Non-obstructive azoospermia, Decreased testicular size, Male infert... ORPHA:1646
Complement Component 6 Deficiency
Reduced hemolytic complement activity, Recurrent meningococcal disease, Decreased serum complemen... OMIM:612446
Immunodeficiency With Hyper-Igm, Type 2
Recurrent upper and lower respiratory tract infections, Decreased circulating IgA level, Recurren... OMIM:605258
Okt4 Epitope Deficiency
Abnormal T cell morphology OMIM:613949
Complement Component 8 Deficiency, Type Ii
Meningitis, Recurrent Neisserial infections OMIM:613789
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein
Abnormality of T cell physiology, Recurrent protozoan infections, Recurrent viral infections, Rec... OMIM:308220
Spermatogenic Failure 48
Male infertility, Azoospermia, Spermatogenesis maturation arrest, Oligospermia OMIM:619108
Agammaglobulinemia 2, Autosomal Recessive
Recurrent pneumonia, Meningitis, Agammaglobulinemia, Recurrent bacterial infections, Recurrent re... OMIM:613500
Myelolymphatic Insufficiency
Recurrent viral infections, Hyposegmentation of neutrophil nuclei, Leukopenia, Recurrent bacteria... OMIM:310350
Immunodeficiency, Common Variable, 5
Chronic decreased circulating total IgG, Antinuclear antibody positivity, Recurrent respiratory i... OMIM:613495
Perifolliculitis Capitis Abscedens Et Suffodiens, Familial
Alopecia of scalp, Perifolliculitis, Alopecia OMIM:260910
Immunodeficiency 53
Recurrent otitis media, Recurrent infections, Recurrent respiratory infections OMIM:617585
Mannose-Binding Lectin Deficiency
Recurrent herpes, Disseminated cryptosporidium infection, Recurrent meningococcal disease, Recurr... OMIM:614372
Tuftsin Deficiency
Abnormality of the spleen, Recurrent infections OMIM:191150
Spermatogenic Failure 1
Male infertility, Oligospermia, Cryptozoospermia OMIM:258150
Spermatogenic Failure 25
Decreased testicular size, Azoospermia, Cryptozoospermia OMIM:617960
Afibrinogenemia, Congenital
Splenic rupture OMIM:202400
Spermatogenic Failure, X-Linked, 3
Absent sperm flagella, Reduced sperm motility, Irregularly shaped sperm tail, Oligospermia, Coile... OMIM:301059
Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency
Recurrent streptococcus pneumoniae infections, Neutropenia, Recurrent staphylococcal infections, ... ORPHA:70592
Immunodeficiency 32A
Recurrent infections, Lymphadenopathy OMIM:614893
Osteoarthritis Susceptibility 1
Hip osteoarthritis OMIM:165720
Spermatogenic Failure 40
Absent sperm flagella, Oligospermia, Immotile sperm, Coiled sperm flagella, Short sperm flagella,... OMIM:618664
Immunodeficiency 38 With Basal Ganglia Calcification
Recurrent mycobacterial infections, Lymphadenopathy OMIM:616126
Alopecia Areata 2
Alopecia of scalp, Alopecia totalis, Patchy alopecia, Alopecia universalis OMIM:610753
Spermatogenic Failure 47
Absent sperm flagella, Oligospermia, Immotile sperm, Short sperm flagella, Male infertility OMIM:619102
Osteoarthritis Susceptibility 2
Osteoarthritis, Heberden's node OMIM:140600
Spermatogenic Failure 8
Azoospermia, Oligospermia, Cryptozoospermia OMIM:613957
Inflammatory Bowel Disease 29
Ulcerative colitis, Crohn's disease OMIM:618077
Immunodeficiency With Hyper-Igm, Type 5
Increased circulating IgM level, Recurrent upper and lower respiratory tract infections, Decrease... OMIM:608106
B-Cell Expansion With Nfkb And T-Cell Anergy
Decreased specific antibody response to polysaccharide vaccine, Splenomegaly, Recurrent infection... OMIM:616452
Immunodeficiency With Hyper-Igm, Type 3
Impaired memory B cell generation, Increased circulating IgM level, Decreased circulating IgE, Ne... OMIM:606843
Spermatogenic Failure 54
Reduced sperm motility, Oligospermia, Tapered sperm head, Coiled sperm flagella, Abnormal sperm a... OMIM:619379
Glycoprotein Storage Disease
Gout OMIM:232900
Monocyte and dendritic cell deficiency, autosomal recessive
Recurrent infections OMIM:614894
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes
Recurrent candida infections, Decreased circulating IgG level, Recurrent bacterial infections OMIM:242870
Gastroesophageal Reflux
Esophagitis, Gastroesophageal reflux, Barrett esophagus, Esophageal neoplasm OMIM:109350
Spermatogenic Failure 7
Male infertility, Immotile sperm, Reduced sperm motility, Oligospermia OMIM:612997
Immunodeficiency 24
Partial absence of specific antibody response to tetanus vaccine, Defective T cell proliferation,... OMIM:615897
Chondrocalcinosis 2
Polyarticular chondrocalcinosis, Osteoarthritis, Arthropathy OMIM:118600
Spermatogenic Failure 51
Absent sperm flagella, Reduced sperm motility, Irregularly shaped sperm tail, Oligospermia, Micro... OMIM:619177
Osteoarthritis Susceptibility 3
Osteoarthritis, Osteoarthritis of the first carpometacarpal joint, Joint stiffness, Osteoarthriti... OMIM:607850
Spermatogenic Failure 39
Absent sperm flagella, Reduced sperm motility, Oligospermia, Tapered sperm head, Coiled sperm fla... OMIM:618643
Spermatogenic Failure 2
Azoospermia, Oligospermia OMIM:108420
Immunodeficiency, Common Variable, 4
Recurrent pneumonia, Complete or near-complete absence of specific antibody response to unconjuga... OMIM:613494
Hepatic Venoocclusive Disease With Immunodeficiency
Absence of lymph node germinal center, Abnormality of the liver, Decreased circulating IgG level OMIM:235550
Alopecia, Psychomotor Epilepsy, Pyorrhea, And Mental Subnormality
Periodontitis, Congenital alopecia totalis, Alopecia universalis OMIM:104130
Chondrocalcinosis 1
Osteoarthritis, Chondrocalcinosis OMIM:600668
Male Infertility Due To Acephalic Spermatozoa
Reduced sperm motility, Oligospermia, Abnormal sperm mid-piece morphology, Acephalic spermatozoa,... ORPHA:529970
Spermatogenic Failure 41
Oligospermia, Immotile sperm, Tapered sperm head, Short sperm flagella, Male infertility OMIM:618670
Congenital Heart Defects, Multiple Types, 2
Abnormal left ventricular outflow tract morphology, Subvalvular aortic stenosis, Aortic regurgita... OMIM:614980
Spermatogenic Failure 50
Decreased testicular size, Male infertility, Azoospermia, Spermatogenesis maturation arrest OMIM:619145
Histiocytosis, Familial Lipochrome
Polyarticular arthritis, Increased circulating antibody level, Recurrent infections, Increased al... OMIM:235900
Spermatogenic Failure 30
Azoospermia, Cryptozoospermia OMIM:618110
Hypotrichosis 4
Sparse hair, Sparse and thin eyebrow, Alopecia, Sparse body hair, Pili torti, Sparse eyelashes OMIM:146550
Immunodeficiency 35
Increased circulating IgE level, Recurrent fungal infections, Recurrent viral infections, Recurre... OMIM:611521
Inflammatory Bowel Disease (Crohn Disease) 30
Esophagitis, Duodenitis, Abdominal pain, Chronic diarrhea, Ileitis, Protein-losing enteropathy, P... OMIM:619079
Hypotrichosis Simplex
Sparse hair, Sparse scalp hair, Sparse and thin eyebrow, Alopecia, Sparse body hair, Sparse eyela... ORPHA:55654
Hypotrichosis 5
Absent pubic hair, Absent axillary hair, Alopecia, Thin eyebrow, Sparse eyelashes OMIM:612841
Neutropenia, Severe Congenital, X-Linked
Neutropenia, Recurrent bacterial infections OMIM:300299
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Skin rash, Decreased proportion of CD4-positive helper T cells, Recurrent bacterial skin infectio... ORPHA:276
Inflammatory Bowel Disease 3
Ulcerative colitis OMIM:604519
Inflammatory Bowel Disease 21
Ulcerative colitis OMIM:612354
Immunodeficiency 72 With Autoinflammation
Increased circulating IgE level, Recurrent otitis media, Herpes simplex encephalitis, Molluscum c... OMIM:618982
Immunodeficiency 12
Recurrent viral infections, Recurrent bacterial infections OMIM:615468
Immunodeficiency 61
Recurrent otitis media, Recurrent sinusitis, Agammaglobulinemia, Recurrent bacterial infections, ... OMIM:300310
Immunodeficiency, Common Variable, 1
Decreased proportion of class-switched memory B cells, Recurrent pneumonia, Recurrent bronchitis,... OMIM:607594
Masp2 Deficiency
Ulcerative colitis, Recurrent pneumonia OMIM:613791
Autoimmune Disease
Autoimmunity, Autoimmune antibody positivity OMIM:109100
Caspase 8 Deficiency
Recurrent herpes, Complete or near-complete absence of specific antibody response to unconjugated... OMIM:607271
Mendelian Susceptibility To Mycobacterial Diseases Due To Partial Irf8 Deficiency
Lymphadenopathy ORPHA:319600
Immunodeficiency, Common Variable, 3
Decreased proportion of class-switched memory B cells, Decreased circulating total IgM, Recurrent... OMIM:613493
Inflammatory Bowel Disease 13
Inflammation of the large intestine OMIM:612244
Inflammatory Bowel Disease (Crohn Disease) 19
Inflammation of the large intestine OMIM:612278
Immunodeficiency, Common Variable, 7
Recurrent urinary tract infections, Reduced isohemagglutinin level, Chronic (near) absent circula... OMIM:614699
Alopecia Universalis
Absent eyelashes, Patchy alopecia, Alopecia universalis, Absent eyebrow ORPHA:701
Agammaglobulinemia 3, Autosomal Recessive
Recurrent bronchitis, Recurrent otitis media, Agammaglobulinemia, Recurrent bacterial infections,... OMIM:613501
Alopecia Totalis
Alopecia of scalp, Alopecia ORPHA:700
Alopecia Universalis Congenita
Alopecia universalis, Alopecia OMIM:203655
Alopecia Areata 1
Nail pits, Trachyonychia, Alopecia totalis, Alopecia universalis, Patchy alopecia OMIM:104000
Tn Polyagglutination Syndrome
Autoimmunity, Abnormal erythrocyte morphology OMIM:300622
Hypotrichosis 11
Sparse hair, Absent axillary hair, Sparse or absent eyelashes, Alopecia, Aplasia/Hypoplasia of th... OMIM:615059
Spermatogenic Failure 5
Male infertility, Functional abnormality of male internal genitalia OMIM:243060
Pulmonary Nodular Lymphoid Hyperplasia, Familial
Clubbing of fingers, Systemic lupus erythematosus, Increased circulating antibody level, Rheumato... OMIM:178610
Ficolin 3 Deficiency
Recurrent lower respiratory tract infections, Recurrent abscess formation, Recurrent Staphylococc... OMIM:613860
Severe Combined Immunodeficiency, X-Linked
T lymphocytopenia, Recurrent fungal infections, Chronic oral candidiasis, Decreased circulating I... OMIM:300400
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Increased circulating IgM level, Autoimmune thrombocytopenia, Bronchiectasis, Autoimmune hemolyti... OMIM:619220
Alopecia, Congenital
Sparse hair, Alopecia OMIM:300042
Immunodeficiency 14A, Autosomal Dominant
Decreased proportion of class-switched memory B cells, T lymphocytopenia, Increased circulating I... OMIM:615513
Isochromosomy Yp
Ambiguous genitalia, Azoospermia, Decreased testicular size, Male infertility, Primary gonadal in... ORPHA:98797
Granulomatous disease with defect in neutrophil chemotaxis
Impaired neutrophil killing of staphylococci, Recurrent staphylococcal infections OMIM:233670
Immune Deficiency, Familial Variable
Decreased circulating IgG level, Recurrent infections, Decreased circulating IgA level OMIM:146830
Persistent Polyclonal B-Cell Lymphocytosis
Hepatomegaly, Lymphocytosis, Decreased circulating total IgM, Splenomegaly OMIM:606445
Squamous Cell Carcinoma Of The Esophagus
Lymphadenopathy ORPHA:99977
Slipped Femoral Capital Epiphyses
Hip osteoarthritis OMIM:182260
Neutropenia, Severe Congenital, 6, Autosomal Recessive
Recurrent otitis media, Recurrent respiratory infections, Neutropenia, Recurrent bacterial infect... OMIM:616022
Lymphoproliferative Syndrome 3
Partial absence of specific antibody response to tetanus vaccine, Decreased circulating antibody ... OMIM:618261
Immunodeficiency, Common Variable, 2
Recurrent pneumonia, Recurrent bronchitis, Partial absence of specific antibody response to uncon... OMIM:240500
Agammaglobulinemia 6, Autosomal Recessive
Chronic sinusitis, Recurrent bronchitis, Recurrent otitis media, Conjunctivitis, Agammaglobulinem... OMIM:612692
Deafness-Infertility Syndrome
Abnormal spermatogenesis, Male infertility, Reduced sperm motility OMIM:611102
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia
Abnormally low T cell receptor excision circle level, B lymphocytopenia, Decreased circulating to... OMIM:618987
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Autoimmune hemolytic anemia, Increased circulating antibody level, Recurrent otitis media, Recurr... OMIM:618495
Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation
Increased circulating gonadotropin level, Azoospermia, Non-obstructive azoospermia, Obstructive a... ORPHA:399805
Immunoglobulin A Deficiency 2
Recurrent infection of the gastrointestinal tract, Abnormal lymphocyte morphology, Decreased circ... OMIM:609529
Esophagitis, Eosinophilic, 2
Dysphagia, Esophagitis, Vomiting OMIM:613412
Esophagitis, Eosinophilic, 1
Dysphagia, Esophagitis, Vomiting OMIM:610247
Immunodeficiency With Hyper-Igm, Type 4
Autoimmune thrombocytopenia, Recurrent upper respiratory tract infections, Autoimmune hemolytic a... OMIM:608184
Pulmonary Nodular Lymphoid Hyperplasia
Mediastinal lymphadenopathy, Plasmacytosis, Follicular hyperplasia ORPHA:60026
Complement Component 4, Partial Deficiency Of
Systemic lupus erythematosus OMIM:120790
T-Cell Immunodeficiency, Recurrent Infections, And Autoimmunity With Or Without Cardiac Malformations
Recurrent fungal infections, Lymphopenia, Recurrent viral infections, Neutropenia, Recurrent bact... OMIM:614868
Immunodeficiency 75
Decreased proportion of class-switched memory B cells, Persistent EBV viremia, Follicular hyperpl... OMIM:619126
Immunodeficiency 18
Defective T cell proliferation, Recurrent gastroenteritis, Decreased proportion of CD3-positive T... OMIM:615615
Reticuloendotheliosis, X-Linked
Jaundice, Hepatosplenomegaly, Anemia, Lymphadenopathy OMIM:312500
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Cutaneous anergy, Decreased helper T cell proportion, Pancytopenia, Hypersplenism, Splenomegaly OMIM:183350
Immunodeficiency 51
Folliculitis, Pustule, Cutaneous abscess, Recurrent bronchitis, Chronic oral candidiasis, Recurre... OMIM:613953
Visceral Myopathy 2
Megaduodenum, Hiatus hernia, Esophagitis, Dysphagia, Gastroesophageal reflux, Intestinal malrotat... OMIM:619350
Spermatogenic Failure 38
Absent sperm flagella, Reduced sperm motility, Abnormal sperm head morphology, Oligospermia, Abno... OMIM:618433
Scheuermann Disease
Osteochondrosis, Kyphosis, Morbus Scheuermann OMIM:181440
Rheumatoid Arthritis
Joint swelling, Swan neck-like deformities of the fingers, Rheumatoid arthritis, Anti-citrullinat... OMIM:180300
Immunoglobulin Kappa Light Chain Deficiency
Recurrent infections, Abnormal immunoglobulin level OMIM:614102
Agammaglobulinemia 4, Autosomal Recessive
Chronic sinusitis, Recurrent pneumonia, Recurrent otitis media, Agammaglobulinemia, Recurrent bac... OMIM:613502
Gamma-A-Globulin, Defect In Assembly Of
Decreased circulating IgA level, Recurrent respiratory infections OMIM:137050
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Recurrent bronchitis, Decreased CD69 upregulation upon TCR activation, Autoimmune thrombocytopeni... OMIM:300853
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Abnormal natural killer cell count, Reduced antigen-specific T cell proliferation, Eosinophilia, ... ORPHA:331206
Immunodeficiency 11
Decreased circulating antibody level, Recurrent respiratory infections, Pneumonia OMIM:615206
Pemphigus Vulgaris, Familial
Autoimmunity, Autoimmune antibody positivity OMIM:169610
Specific Granule Deficiency 1
Absent neutrophil specific granules, Increased neutrophil mitochondria, Increased neutrophil ribo... OMIM:245480
Interstitial Granulomatous Dermatitis With Arthritis
Rheumatoid arthritis, Rheumatoid factor positive, Elevated circulating C-reactive protein concent... ORPHA:79099
Talo-Patello-Scaphoid Osteolysis
Osteolysis of talus, Osteolysis of patellae, Osteolysis of scaphoids, Enlarged joints, Synovitis ORPHA:50809
Proton-Pump Inhibitor-Responsive Esophageal Eosinophilia
Esophagitis, Eosinophilic microabscess formation in the esophagus, Allergic rhinitis, Atopic derm... ORPHA:411696
Candidiasis, Familial, 2
Chronic tinea infection, Increased circulating IgE level, Chronic oral candidiasis, Onychomycosis... OMIM:212050
Bacterial Susceptibility Due To Tlr Signaling Pathway Deficiency
Recurrent bacterial skin infections ORPHA:183713
Cutaneous Photosensitivity And Colitis, Lethal
Diarrhea, Colitis OMIM:219095
Inflammatory Bowel Disease 28, Autosomal Recessive
Folliculitis, Hematochezia, Pyoderma, Colitis, Perianal abscess, Enterocolitis, Crohn's disease OMIM:613148
Aortic Aneurysm, Familial Thoracic 4
Ascending aortic dissection, Aortic regurgitation, Abnormal left ventricular function, Patent duc... OMIM:132900
Immunodeficiency 25
Recurrent herpes, Recurrent pneumonia, Increased circulating IgM level, Increased circulating IgE... OMIM:610163
Graham Little-Piccardi-Lassueur Syndrome
Sparse scalp hair, Sparse pubic hair, Sparse axillary hair, Alopecia ORPHA:505
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Absent tonsils, Aplasia of the thymus, Recurrent upper respiratory tract infections, Lymph node h... OMIM:602450
Immunodeficiency 50
Decreased circulating antibody level, Lymphopenia, Recurrent urinary tract infections, Neutropeni... OMIM:300988
Kerion Celsi
Recurrent cutaneous abscess formation, Lymphadenopathy ORPHA:499
Isochromosomy Yq
Ambiguous genitalia, Azoospermia, Gonadal tissue inappropriate for external genitalia or chromoso... ORPHA:98798
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Recurrent herpes, Failure to thrive secondary to recurrent infections, Chronic oral candidiasis, ... ORPHA:169160
Endometriosis, Susceptibility To, 1
Decreased fertility, Endometriosis, Dysmenorrhea OMIM:131200
Autoimmune Lymphoproliferative Syndrome, Type Iii
Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of memory ... OMIM:615559
Lymphoma, Hodgkin, Classic
Polyclonal elevation of IgM OMIM:236000
Severe Combined Immunodeficiency Due To Dclre1C Deficiency
Skin rash, Chronic oral candidiasis, Recurrent gastroenteritis, Autoimmunity, Decreased proportio... ORPHA:275
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive
Ulcerative colitis, Bloody diarrhea OMIM:619398
Ectodermal Dysplasia 6, Hair/Nail Type
Dystrophic toenail, Sparse hair, Alopecia, Thin toenail OMIM:614928
Systemic-Onset Juvenile Idiopathic Arthritis
Skin rash, Joint swelling, Pericarditis, Abdominal pain, Autoimmunity, Juvenile rheumatoid arthri... ORPHA:85414
Immunodeficiency 76
T lymphocytopenia, Lymphopenia, B lymphocytopenia, Splenomegaly, Lymphadenopathy OMIM:619164
Spermatogenic Failure 12
Infertility, Azoospermia, Abnormal male germ cell morphology OMIM:615413
Alopecia-Mental Retardation Syndrome 2
Alopecia universalis OMIM:610422
Alopecia, Familial Focal
Patchy alopecia OMIM:104110
Alopecia, Androgenetic, 1
Alopecia OMIM:109200
Alopecia-Mental Retardation Syndrome 3
Alopecia universalis OMIM:613930
Alopecia-Mental Retardation Syndrome 1
Alopecia universalis OMIM:203650
Talo-Patello-Scaphoid Osteolysis, Synovitis, And Short Fourth Metacarpals
Osteolysis of talus, Osteolysis of patellae, Osteolysis of scaphoids, Synovitis OMIM:609655
Diarrhea 8, Secretory Sodium, Congenital
Inflammation of the large intestine, Abdominal distention, Secretory diarrhea OMIM:616868
Oligoarticular Juvenile Idiopathic Arthritis
Joint hypermobility, Abnormal serum interleukin level, Increased serum interferon-gamma level, Au... ORPHA:85410
Developmental Dysplasia Of The Hip 2
Hip osteoarthritis, Arthritis OMIM:615612
Spermatogenic Failure 52
Male infertility, Azoospermia OMIM:619202
Acne Inversa, Familial, 3
Chronic furunculosis, Acne inversa, Recurrent cutaneous abscess formation, Perifolliculitis OMIM:613737
Immunodeficiency 14B, Autosomal Recessive
Monocytosis, Thrombocytosis, Leukocytosis, Decreased circulating total IgM, Recurrent sinusitis, ... OMIM:619281
Immunodeficiency 64
Abnormal CD4:CD8 ratio, Increased circulating IgM level, Increased proportion autoreactive unresp... OMIM:618534
Immunodeficiency 40
Lymphopenia OMIM:616433
Hyper-Ige Recurrent Infection Syndrome 5, Autosomal Recessive
Atopic dermatitis, Increased circulating IgE level, Cutaneous abscess, Recurrent upper respirator... OMIM:618944
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Positive
Recurrent opportunistic infections, T lymphocytopenia, Failure to thrive secondary to recurrent i... OMIM:608971
Spermatogenic Failure 35
Infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella OMIM:618341
Spermatogenic Failure 33
Infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella OMIM:618152
Spermatogenic Failure 34
Infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella OMIM:618153
Spermatogenic Failure 18
Infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella OMIM:617576
Spermatogenic Failure 20
Infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella OMIM:617593
Spermatogenic Failure 19
Infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella OMIM:617592
Spermatogenic Failure 23
Infertility, Azoospermia OMIM:617707
Spermatogenic Failure 22
Infertility, Azoospermia OMIM:617706
Spermatogenic Failure 32
Infertility, Azoospermia OMIM:618115
Immunodeficiency 52
Coombs-positive hemolytic anemia, Recurrent pneumonia, Autoimmune thrombocytopenia, Persistent EB... OMIM:617514
Immunodeficiency With Hyper-Igm, Type 1
Decreased circulating IgE, Sclerosing cholangitis, Neutropenia, Decreased T cell activation, Chro... OMIM:308230
Diverticulosis, Small-Intestinal
Jejunoileal diverticula, Thyroiditis, Rheumatoid arthritis, Ulcerative colitis, Duodenal divertic... OMIM:223320
Fetal Cytomegalovirus Syndrome
Hepatomegaly, Anemia, Splenomegaly ORPHA:294
Mantle Cell Lymphoma
Lymphadenopathy, Splenomegaly ORPHA:52416
Cd8 Deficiency, Familial
Recurrent respiratory infections, Recurrent viral infections, Recurrent bacterial infections OMIM:608957
Immunoglobulin A Deficiency 1
Autoimmunity, Recurrent infections, Decreased circulating IgA level, Recurrent respiratory infect... OMIM:137100
Hypogonadotropic Hypogonadism 24 Without Anosmia
Infertility, Azoospermia, Primary amenorrhea, Decreased testicular size, Hypogonadism OMIM:229070
Purine Nucleoside Phosphorylase Deficiency
Recurrent opportunistic infections, Pure red cell aplasia, Autoimmune thrombocytopenia, Recurrent... OMIM:613179
Apolipoprotein A-I Deficiency
Anemia, Abnormality of the liver, Lymphadenopathy, Splenomegaly ORPHA:425
T-Cell Receptor-Alpha/Beta Deficiency
Hypereosinophilia, Recurrent infections, Lymphadenopathy OMIM:615387
Pa Polymorphism Of Alpha-2-Globulin
Abnormal immunoglobulin level OMIM:260100
Male Infertility With Teratozoospermia Due To Single Gene Mutation
Globozoospermia, Increased circulating gonadotropin level, Non-obstructive azoospermia, Decreased... ORPHA:399808
Griscelli Syndrome, Type 2
Hemophagocytosis, Hepatosplenomegaly, Recurrent bacterial infections, Reduced delayed hypersensit... OMIM:607624
Spermatogenic Failure, X-Linked, 2
Testicular atrophy, Male infertility, Azoospermia OMIM:309120
Spermatogenic Failure 46
Absent sperm flagella, Reduced sperm motility, Irregularly shaped sperm tail, Coiled sperm flagel... OMIM:619095
Angel-Shaped Phalangoepiphyseal Dysplasia
Hip osteoarthritis, Delayed ossification of carpal bones, Premature osteoarthritis, Hyperextensib... OMIM:105835
Candidiasis, Familial, 1
Alopecia, Chronic mucocutaneous candidiasis OMIM:114580
Eosinophilic Gastroenteritis
Allergic rhinitis, Atopic dermatitis, Hematochezia, Leukocytosis, Dysphagia, Abnormality of the g... ORPHA:2070
Immunodeficiency 33
Decreased circulating total IgM, Recurrent bacterial infections, Disseminated nontuberculous myco... OMIM:300636
Macroglobulinemia, Waldenstrom, Susceptibility To, 1
Polyclonal elevation of IgM, Monoclonal immunoglobulin M proteinemia OMIM:153600
Pyoderma Gangrenosum
Myeloid leukemia, Pustule, Inflammation of the large intestine, Increased circulating antibody le... ORPHA:48104
Spermatogenic Failure 36
Male infertility, Abnormal sperm morphology OMIM:618420
Selective Igm Deficiency
Cutaneous abscess, Bronchiectasis, Decreased specific antibody response to vaccination, Chronic s... ORPHA:331235
Agammaglobulinemia, X-Linked
Prostatitis, Epididymitis, Lymph node hypoplasia, Recurrent urinary tract infections, Pyoderma, P... OMIM:300755
Spermatogenic Failure 43
Absent sperm flagella, Reduced sperm motility, Coiled sperm flagella, Absent sperm axoneme centra... OMIM:618751
Spermatogenic Failure 49
Absent sperm flagella, Reduced sperm motility, Coiled sperm flagella, Short sperm flagella, Male ... OMIM:619144
Spermatogenic Failure 45
Absent sperm flagella, Reduced sperm motility, Coiled sperm flagella, Short sperm flagella, Male ... OMIM:619094
Kienbock Disease
Limitation of joint mobility, Osteochondritis Dissecans, Osteoarthritis, Abnormality of the wrist ORPHA:97332
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 4
Decreased circulating antibody level, Recurrent infections, Agammaglobulinemia OMIM:616911
Spermatogenic Failure 10
Infertility, Abnormal sperm morphology OMIM:614822
Spermatogenic Failure 11
Infertility, Abnormal sperm morphology OMIM:615081
Familial Aortic Dissection
Descending thoracic aorta aneurysm, Carotid artery dilatation, Aortic regurgitation, Abnormal lef... ORPHA:229
Cernunnos-Xlf Deficiency
T lymphocytopenia, Decreased circulating antibody level, Lymphopenia, Recurrent viral infections,... ORPHA:169079
Agammaglobulinemia 7, Autosomal Recessive
Recurrent infections, Recurrent respiratory infections, Agammaglobulinemia OMIM:615214
Mendelian Susceptibility To Mycobacterial Diseases Due To Complete Il12Rb1 Deficiency
Tegumentary leishmaniasis susceptibility, Abnormal serum interleukin level, BCGosis, Severe toxop... ORPHA:319552
Hirschsprung Disease, Susceptibility To, 1
Constipation, Aganglionic megacolon, Abnormality of enteric ganglion morphology, Vomiting, Entero... OMIM:142623
Autoimmune Polyendocrinopathy Type 4
Xerostomia, Leukopenia, Non-caseating epithelioid cell granulomatosis, Autoimmune thrombocytopeni... ORPHA:227990
Odonto-Onycho Dysplasia-Alopecia Syndrome
Hypoplastic toenails, Sparse hair, Sparse and thin eyebrow, Alopecia, Sparse body hair, Abnormal ... ORPHA:2722
Aorto-Ventricular Tunnel
Abnormal coronary artery morphology, Ventricular hypertrophy, Abnormal heart valve morphology, Ab... ORPHA:3400
Immunodeficiency 47
Cirrhosis, Hepatic steatosis, Decreased circulating antibody level, Hepatomegaly, Prolonged neona... OMIM:300972
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia
Decreased circulating antibody level, Recurrent skin infections, Recurrent infections, Recurrent ... OMIM:617744
Felty Syndrome
Rheumatoid arthritis, Neutropenia, Splenomegaly OMIM:134750
Combined Oxidative Phosphorylation Deficiency 9
Hepatomegaly, Elevated hepatic transaminase, Failure to thrive, Hypertrophic cardiomyopathy OMIM:614582
Granulomatous Disease, Chronic, Autosomal Recessive, 3
Recurrent sinusitis, Perioral eczema, Colitis, Diarrhea, Recurrent aphthous stomatitis OMIM:613960
Inflammatory Bowel Disease (Crohn Disease) 1
Inflammation of the large intestine, Abdominal pain, Ulcerative colitis, Diarrhea, Recurrent apht... OMIM:266600
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Absent tonsils, T lymphocytopenia, Recurrent opportunistic infections, Increased circulating IgE ... ORPHA:277
Deafness-Infertility Syndrome
Male infertility, Azoospermia ORPHA:94064
Autoimmune Lymphoproliferative Syndrome, Type V
Autoimmune thrombocytopenia, Recurrent upper respiratory tract infections, Autoimmune hemolytic a... OMIM:616100
Combined Cellular And Humoral Immune Defects With Granulomas
T lymphocytopenia, Decreased circulating IgG level, B lymphocytopenia, Recurrent respiratory infe... OMIM:233650
Autoimmune Polyendocrinopathy Type 3
Xerostomia, Leukopenia, Autoimmune hypoparathyroidism, Non-caseating epithelioid cell granulomato... ORPHA:227982
Immune Deficiency Disease
Recurrent viral infections, Cholangitis, Fulminant hepatitis, Recurrent bacterial infections, Dec... OMIM:242850
5-Oxoprolinase Deficiency
Vomiting, Enterocolitis, Diarrhea, Abdominal pain OMIM:260005
Hyperlipoproteinemia, Type Id
Colitis OMIM:615947
Autosomal Dominant Palmoplantar Keratoderma And Congenital Alopecia
Congenital alopecia totalis, Fingernail dysplasia ORPHA:1010
Premature Ovarian Failure 19
Irregular menstruation, Female infertility, Secondary amenorrhea, Premature ovarian insufficiency OMIM:619245
Spermatogenic Failure 29
Azoospermia OMIM:618091
Spermatogenic Failure 13
Azoospermia OMIM:615841
Spermatogenic Failure 14
Azoospermia OMIM:615842
Vas Deferens, Congenital Bilateral Aplasia Of
Azoospermia OMIM:277180
Deleted in azoospermia
Azoospermia OMIM:400003
Spermatogenic Failure, Y-Linked, 2
Azoospermia OMIM:415000
Inflammatory Bowel Disease 25, Autosomal Recessive
Folliculitis, Enterocutaneous fistula, Rectovaginal fistula, Perianal abscess, Enterocolitis OMIM:612567
Ras-Associated Autoimmune Leukoproliferative Disorder
Lymphocytosis, Monocytosis, Hemolytic anemia, Autoimmune thrombocytopenia, Increased circulating ... OMIM:614470
Severe Combined Immunodeficiency Due To Foxn1 Deficiency
Nail pits, Ridged nail, Congenital alopecia totalis ORPHA:169095
Camptodactyly-Arthropathy-Coxa Vara-Pericarditis Syndrome
Constrictive pericarditis, Flattened metatarsal heads, Congenital finger flexion contractures, Fl... OMIM:208250
Axonal Polyneuropathy Associated With Igg/Igm/Iga Monoclonal Gammopathy
Increased circulating beta-2-microglobulin level, Monoclonal immunoglobulin M proteinemia, Cryogl... ORPHA:209004
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
T lymphocytopenia, Hemolytic anemia, Recurrent fungal infections, Chronic oral candidiasis, Decre... OMIM:606367
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Hemolytic anemia, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Lymphopenia, Recurren... ORPHA:444463
Enterocolitis
Enterocolitis, Ulcerative colitis, Abdominal distention, Hematochezia OMIM:226150
Immunodeficiency 60
Decreased proportion of memory B cells, Decreased circulating IgE, Decreased basophil count, Recu... OMIM:618394
Secondary Non-Traumatic Avascular Necrosis
Autoimmunity, Rheumatoid arthritis, Systemic lupus erythematosus, Limitation of joint mobility ORPHA:399180
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Lymphocytosis, Decreased proportion of CD4-positive helper T cells, Neonatal sepsis, Neutropenia,... ORPHA:169154
Immunoglobulin M, Level Of
Decreased circulating total IgM, Meningitis OMIM:308250
Lupus Erythematosus Tumidus
Anti-dsDNA antibody positivity, Anti-La/SS-B antibody positivity, Autoimmune antibody positivity,... ORPHA:90283
Psoriasis 1, Susceptibility To
Nail pits, Onycholysis, Onychomadesis, Psoriasiform dermatitis, Arthritis OMIM:177900
Cerebellar Ataxia And Ectodermal Dysplasia
Sparse hair, Alopecia OMIM:212835
Alopecia-Intellectual Disability-Hypergonadotropic Hypogonadism Syndrome
Alopecia totalis ORPHA:1014
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome
Hepatomegaly, Splenomegaly ORPHA:2274
Hypogonadism, Male
Hypospadias, Testicular atrophy, Male hypogonadism, Micropenis OMIM:241100
Hypotrichosis 1
Sparse eyebrow, Sparse hair, Sparse axillary hair, Sparse pubic hair, Sparse body hair, Sparse ey... OMIM:605389
Epidermolysis Bullosa Simplex, Generalized, With Scarring And Hair Loss
Alopecia of scalp, Alopecia, Dystrophic toenail, Sparse body hair, Onychogryposis of toenails OMIM:617294
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm
Infertility, Abnormal sperm morphology OMIM:608653
Osteochondrosis Of The Tarsal Bone
Chondritis, Abnormal tarsal ossification, Tarsal sclerosis, Tarsal stippling, Osteochondritis Dis... ORPHA:563991
C1Q Deficiency
Autoimmunity, Membranoproliferative glomerulonephritis, Systemic lupus erythematosus, Recurrent i... OMIM:613652
Neutropenia, Severe Congenital, 7, Autosomal Recessive
Recurrent infections, Neutropenia OMIM:617014
Reticular Dysgenesis
Skin rash, Abnormality of neutrophils, Decreased circulating antibody level, Chronic otitis media... ORPHA:33355
Young Syndrome
Decreased fertility, Obstructive azoospermia ORPHA:3471
Subcorneal Pustular Dermatosis
Pustule, Systemic lupus erythematosus, Autoimmunity, Increased circulating antibody level, Rheuma... ORPHA:48377
Immunodeficiency, Common Variable, 11
Decreased proportion of class-switched memory B cells, Inflammation of the large intestine, Incre... OMIM:615767
Immunodeficiency 48
Eczematoid dermatitis, Panhypogammaglobulinemia, Pneumonia, Splenomegaly, Recurrent candida infec... OMIM:269840
Familial Male-Limited Precocious Puberty
Long penis, Oligospermia, Macroorchidism, Male infertility, Precocious puberty ORPHA:3000
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Increased circulating antibody level, Extramedullary hematopoiesis, Neutropenia, Thrombocytopenia... OMIM:615285
Alopecia-Epilepsy-Oligophrenia Syndrome Of Moynahan
Sparse hair, Alopecia OMIM:203600
Lymphoid System Deterioration, Progressive
Decreased circulating total IgM, Abnormal T cell morphology, Lymphopenia, Decreased circulating I... OMIM:247630
Agammaglobulinemia 1, Autosomal Recessive
Bronchiectasis, Decreased circulating antibody level, Recurrent otitis media, Recurrent sinusitis... OMIM:601495
Sjogren Syndrome
Autoimmunity, Rheumatoid arthritis, Keratoconjunctivitis sicca, Tubulointerstitial nephritis OMIM:270150
Complement Component C1R/C1S Deficiency
Discoid lupus rash, Nephritis, Arthritis OMIM:216950
Mass Syndrome
Mitral valve prolapse, Aortic aneurysm OMIM:604308
Hypertriglyceridemia, Transient Infantile
Elevated hepatic transaminase, Hepatic steatosis, Hepatomegaly, Hepatic fibrosis, Splenomegaly OMIM:614480
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive
T lymphocytopenia, Failure to thrive secondary to recurrent infections, Purulent rhinitis, Panhyp... OMIM:601457
Parc Syndrome
Alopecia, Absent eyelashes, Absent eyebrow OMIM:600331
Quinquaud Folliculitis Decalvans
Pustule, Abnormal hair morphology, Scarring alopecia of scalp, Patchy alopecia, Recurrent skin in... ORPHA:346
Transcobalamin Deficiency
Decreased circulating antibody level, Lymphopenia, Neutropenia, Thrombocytopenia, Pancytopenia, D... ORPHA:859
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency
Recurrent opportunistic infections, T lymphocytopenia, Absent natural killer cells, Chronic oral ... ORPHA:35078
Complement Component 8 Deficiency, Type I
Meningitis, Systemic lupus erythematosus OMIM:613790
Trichodysplasia-Xeroderma Syndrome
Trichodysplasia, Coarse hair, Sparse scalp hair, Sparse and thin eyebrow, Brittle hair, Alopecia,... ORPHA:3361
Isolated Follicle Stimulating Hormone Deficiency
Gonadotropin deficiency, Male hypogonadism, Hyperplasia of the Leydig cells, Azoospermia, Bilater... ORPHA:52901
Glycine N-Methyltransferase Deficiency
Hepatomegaly, Elevated hepatic transaminase OMIM:606664
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis
Absent tonsils, Decreased proportion of CD8-positive T cells, Decreased proportion of CD4-positiv... OMIM:611926
Agammaglobulinemia 8, Autosomal Dominant
Recurrent infections, Recurrent otitis media, B lymphocytopenia, Agammaglobulinemia OMIM:616941
Congenital Disorder Of Glycosylation, Type Icc
Hepatomegaly OMIM:301031
Secondary Short Bowel Syndrome
Low plasma citrulline, Central hypothyroidism, Abnormal blood ion concentration, Weight loss, Dia... ORPHA:95427
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne
Colitis, Cystic acne, Knee flexion contracture, Sterile arthritis, Elbow flexion contracture, Acn... OMIM:604416
Thrombocytopenic Purpura, Autoimmune
Thrombocytopenia, Platelet antibody positive OMIM:188030
Immunodeficiency, Common Variable, 14
Decreased proportion of class-switched memory B cells, Defective B cell differentiation, Decrease... OMIM:617765
X-Linked Severe Congenital Neutropenia
Monocytopenia, Neutropenia, Recurrent bacterial infections ORPHA:86788
Spermatogenic Failure 42
Absent sperm flagella, Reduced sperm motility, Tapered sperm head, Microcephalic sperm head, Coil... OMIM:618745
Combined Immunodeficiency Due To Zap70 Deficiency
Recurrent opportunistic infections, Lymphocytosis, Decreased proportion of CD8-positive T cells, ... ORPHA:911
Hashimoto Thyroiditis
Hashimoto thyroiditis, Autoimmune antibody positivity OMIM:140300
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Severe B lymphocytopenia, Aplasia of the thymus, Increased circulating IgE level, Recurrent funga... OMIM:102700
Parastremmatic Dwarfism
Scoliosis, Genu valgum, Kyphosis, Flexion contracture, Short neck OMIM:168400
Polyneuropathy Associated With Igm Monoclonal Gammapathy With Anti-Mag
Monoclonal immunoglobulin M proteinemia ORPHA:639
Adult Idiopathic Neutropenia
Increased circulating IgM level, Recurrent fungal infections, Helicobacter pylori infection, Recu... ORPHA:2688
Leukocyte Adhesion Deficiency, Type Iii
Leukocytosis, Extramedullary hematopoiesis, Hepatomegaly, Anemia, Splenomegaly, Sepsis, Hepatospl... OMIM:612840
Immunodeficiency By Defective Expression Of Mhc Class Ii
Skin rash, Recurrent Staphylococcus aureus infections, Decreased proportion of CD4-positive helpe... ORPHA:572
Loose Anagen Hair Syndrome
Loose anagen hair, Sparse hair, Fair hair OMIM:600628
Whim Syndrome 1
Bronchiectasis, Recurrent upper respiratory tract infections, Decreased circulating antibody leve... OMIM:193670
Lymphoproliferative Syndrome, X-Linked, 1
Lymphocytosis, Hemophagocytosis, Increased circulating IgM level, Severe Epstein Barr virus infec... OMIM:308240
Lymphoproliferative Syndrome 2
Hemophagocytosis, Recurrent pneumonia, EBV meningitis, Persistent EBV viremia, EBV encephalitis, ... OMIM:615122
Autosomal Dominant Dopa-Responsive Dystonia
Scoliosis, Progressive flexion contractures, Postural tremor, Gait ataxia, Transient hyperphenyla... ORPHA:98808
Aortic Aneurysm, Familial Thoracic 6
Moyamoya phenomenon, Aortic aneurysm, Premature coronary artery atherosclerosis, Thoracic aortic ... OMIM:611788
Hypogonadism With Low-Grade Mental Deficiency And Microcephaly
Male hypogonadism, Azoospermia OMIM:241000
Premature Ovarian Failure 5
Secondary amenorrhea, Premature ovarian insufficiency, Primary amenorrhea OMIM:611548
Combined Immunodeficiency Due To Dock8 Deficiency
T lymphocytopenia, Atopic dermatitis, Increased circulating IgE level, Recurrent bacterial skin i... ORPHA:217390
Inflammatory Bowel Disease 11
Inflammation of the large intestine, Hematochezia, Diarrhea, Abdominal pain OMIM:191390
Omenn Syndrome
Severe B lymphocytopenia, Hypoplasia of the thymus, Thrombocytopenia, Hepatomegaly, Eosinophilia,... OMIM:603554
Spondyloenchondrodysplasia With Immune Dysregulation
Scoliosis, Joint swelling, Metaphyseal irregularity, Progressive spastic quadriplegia, Spastic di... OMIM:607944
Ectodermal Dysplasia 4, Hair/Nail Type
Onycholysis, Absent eyelashes, Absent eyebrow, Brittle hair, Alopecia, Congenital onychodystrophy... OMIM:602032
Congenital Bilateral Absence Of Vas Deferens
Absent vas deferens, Male infertility, Obstructive azoospermia, Oligospermia ORPHA:48
Ectodermal Dysplasia And Immunodeficiency 1
Abnormal circulating IgG level, Increased circulating IgM level, Recurrent bacterial infections, ... OMIM:300291
Kimura Disease
Eosinophilia, Increased circulating IgE level, Follicular hyperplasia, Lymphadenopathy ORPHA:482
Arthritis, Sacroiliac
Sacroiliac arthritis OMIM:108100
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Abnormal CD4:CD8 ratio, Intermittent thrombocytopenia, Neutropenia, B lymphocytopenia, Splenomega... OMIM:150550
Pseudopelade Of Brocq
Abnormality of the nail, Abnormal hair morphology, Cheilitis, Sparse scalp hair, Alopecia, Aplasi... ORPHA:129
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Abnormally low T cell receptor excision circle level, Generalized lymphadenopathy, Neutropenia, P... OMIM:618986
Immunodeficiency 70
Decreased circulating antibody level, Decreased proportion of CD4-positive helper T cells, Recurr... OMIM:618969
Benign Cephalic Histiocytosis
Histiocytosis, Skin rash, Inflammatory abnormality of the skin ORPHA:157997
Neutrophil Immunodeficiency Syndrome
Leukocytosis, Abnormality of neutrophil physiology ORPHA:183707
Complement Component C1S Deficiency
Hepatitis, Systemic lupus erythematosus, Hashimoto thyroiditis OMIM:613783
Granulomatous Disease, Chronic, Autosomal Recessive, 1
Recurrent Aspergillus infections, Recurrent pneumonia, Osteomyelitis, Recurrent Staphylococcus au... OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2
Recurrent Aspergillus infections, Recurrent pneumonia, Osteomyelitis, Recurrent Staphylococcus au... OMIM:233710
Immunodeficiency Due To Defect In Mapbp-Interacting Protein
Decreased circulating total IgM, Recurrent bronchopulmonary infections OMIM:610798
Aortic Aneurysm, Familial Thoracic 9
Aortic tortuosity, Atrial fibrillation, Thoracic aortic aneurysm, Mitral valve prolapse, Ascendin... OMIM:616166
Autoimmune Lymphoproliferative Syndrome
Increased circulating IgM level, Platelet antibody positive, Autoimmune thrombocytopenia, Antineu... OMIM:601859
Complement Factor B Deficiency
Peritonitis, Pneumonia, Meningitis, Recurrent meningococcal disease, Recurrent bacterial infections OMIM:615561
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Hemophagocytosis, Abnormal natural killer cell physiology, Recurrent upper respiratory tract infe... OMIM:613101
Hereditary Hyperekplexia
Hiatus hernia, Esophagitis, Gastroesophageal reflux, Joint stiffness, Joint dislocation, Hip disl... ORPHA:3197
Proteasome-Associated Autoinflammatory Syndrome 5
Hepatomegaly, Failure to thrive in infancy, Splenomegaly OMIM:619175
Immunodeficiency 55
Neutropenia, Recurrent infections, Eczema, Recurrent skin infections, Lymphadenopathy, Dry skin OMIM:617827
Premature Ovarian Failure 2A
Secondary amenorrhea, Premature ovarian insufficiency OMIM:300511
Invasive Mole
Menometrorrhagia ORPHA:99925
Proteasome-Associated Autoinflammatory Syndrome 2
Thrombocytopenia, Increased circulating antibody level, Recurrent infections, Lymphadenopathy OMIM:618048
Spermatogenic Failure 24
Reduced sperm motility, Tapered sperm head, Microcephalic sperm head, Coiled sperm flagella, Shor... OMIM:617959
Congenital Heart Defects, Multiple Types, 4
Ventricular septal defect, Aortic valve stenosis, Hypoplastic left heart, Coarctation of aorta, A... OMIM:615779
Complement Component 3 Deficiency, Autosomal Recessive
Membranoproliferative glomerulonephritis, Systemic lupus erythematosus, Recurrent bacterial infec... OMIM:613779
Marie Unna Hereditary Hypotrichosis
Coarse hair, Sparse scalp hair, Sparse or absent eyelashes, Alopecia, Aplasia/Hypoplasia of the e... ORPHA:444
Brachydactylous Dwarfism, Mseleni Type
Osteoarthritis of the elbow, Protrusio acetabuli, Stiff shoulders, Hip osteoarthritis, Abnormalit... ORPHA:2619
Autoinflammation With Episodic Fever And Lymphadenopathy
Recurrent tonsillitis, Microcytic anemia, Hepatomegaly, Splenomegaly, Lymphadenopathy OMIM:618852
Congenital Aortic Valve Stenosis
Aortic valve atresia, Reduced ejection fraction, Endocarditis, Abnormal pulse pressure, Angina pe... ORPHA:3093
Trichodysplasia-Xeroderma
Trichodysplasia, Sparse hair, Dry hair, Coarse hair, Sparse axillary hair, Slow-growing hair, Spa... OMIM:190360
Mu-Heavy Chain Disease
Increased circulating antibody level, Hepatomegaly, Abnormal B cell count, Anemia, Splenomegaly, ... ORPHA:100024
Celiac Disease, Susceptibility To, 1
Hypocalcemia, Thyroiditis, Weight loss, Delayed puberty, Diarrhea, Vomiting, Eczema, Iron deficie... OMIM:212750
Immunodeficiency 36
Bronchiectasis, Autoimmunity, Decreased circulating antibody level, Lymphopenia, Chronic lymphati... OMIM:616005
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Thrombocytopenia, Splenomegaly, Anemia, Abnormal platelet function, Abnormal hemoglobin ORPHA:231393
Granulomatous Disease, Chronic, X-Linked
Recurrent Aspergillus infections, Recurrent pneumonia, Osteomyelitis, Recurrent Staphylococcus au... OMIM:306400
Granulomatous Disease, Chronic, Autosomal Recessive, 4
Recurrent Aspergillus infections, Recurrent pneumonia, Osteomyelitis, Recurrent Staphylococcus au... OMIM:233690
Hypoplastic Left Heart Syndrome 1
Aortic valve stenosis, Hypoplastic left heart, Coarctation of aorta OMIM:241550
Aortic Valve Disease 2
Coarctation of aorta, Calcification of the aorta, Aortic aneurysm, Bicuspid aortic valve OMIM:614823
Immunodeficiency, Common Variable, 12, With Autoimmunity
Bronchiectasis, Autoimmune hemolytic anemia, Decreased circulating antibody level, Recurrent sinu... OMIM:616576
Uncombable Hair Syndrome
Trichodysplasia, Abnormal hair morphology, White hair, Coarse hair, Patchy alopecia, Woolly hair ORPHA:1410
Gamma-Heavy Chain Disease
Skin rash, Osteolysis, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Dysphagia, Abnor... ORPHA:100026
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Craniosynostosis, Colitis ORPHA:88643
Diarrhea 5, With Tufting Enteropathy, Congenital
Intractable diarrhea, Villous atrophy, Arthritis OMIM:613217
Combined Oxidative Phosphorylation Deficiency 16
Microvesicular hepatic steatosis, Elevated hepatic transaminase, Hypertrophic cardiomyopathy OMIM:615395
Aortic Aneurysm, Familial Thoracic 7
Descending aortic dissection, Aortic aneurysm, Ascending aortic dissection, Aortic rupture OMIM:613780
Alpha-N-Acetylgalactosaminidase Deficiency Type 3
Hepatomegaly, Hypertrophic cardiomyopathy ORPHA:79281
Hemoglobin H Disease
Hemolytic anemia, Hepatomegaly, HbH hemoglobin, Splenomegaly, Reduced alpha/beta synthesis ratio OMIM:613978
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Hypoplasia of the thymus, Lymphopenia, Agammaglobulinemia OMIM:200900
Aortic Valve Disease 3
Aortic root aneurysm, Aortic valve stenosis, Atrial septal defect, Bicuspid aortic valve OMIM:618496
Immunodeficiency 27B
Recurrent mycobacterial infections, Generalized lymphadenopathy OMIM:615978
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Congenital agranulocytosis, Monocytosis, Thrombocytosis, Acute monocytic leukemia, Increased circ... OMIM:202700
Isolated Agammaglobulinemia
Abnormality of the lymphatic system, Skin rash, Abnormality of neutrophils, Abnormal lymphocyte m... ORPHA:229717
Spondyloenchondrodysplasia
Skin rash, Pneumonia, Short distal phalanx of finger, Anti-dsDNA antibody positivity, Bowing of t... ORPHA:1855
Spermatogenic Failure 31
Acephalic spermatozoa, Male infertility OMIM:618112
Spermatogenic Failure 53
Male infertility, Tapered sperm head OMIM:619258
Adenocarcinoma Of The Esophagus
Lymphadenopathy ORPHA:99976
Rosaï-Dorfman Disease
Anemia, Dysgammaglobulinemia, Lymphadenopathy ORPHA:158014
Immunodeficiency 37
Encephalitis, Colitis OMIM:616098
Epidermolysis Bullosa Acquisita
Inflammation of the large intestine, Abdominal pain ORPHA:46487
Spermatogenic Failure 44
Acephalic spermatozoa, Male infertility, Reduced sperm motility OMIM:619044
Partial Atrioventricular Septal Defect
Atrial flutter, Patent ductus arteriosus, Coronary sinus enlargement, Double outlet right ventric... ORPHA:1330
Osteochondrosis Of The Metatarsal Bone
Abnormality of the fifth metatarsal bone, Chondritis, Abnormality of the fourth metatarsal bone, ... ORPHA:564003
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Recurrent pneumonia, Recurrent tonsillitis, Hemolytic anemia, Lymphadenitis, Lymphopenia, Impaire... OMIM:618935
Pyogenic Arthritis-Pyoderma Gangrenosum-Acne Syndrome
Pustule, Acne, Increased inflammatory response, Increased circulating antibody level, Lymphadenop... ORPHA:69126
Myasthenia Gravis
Pure red cell aplasia, Hemolytic anemia, Systemic lupus erythematosus, Muscle specific kinase ant... ORPHA:589
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome
Periodontitis, Abnormal eyelash morphology, Sparse scalp hair, Alopecia universalis, Sparse body ... ORPHA:1008
Insulin-Resistance Syndrome Type B
Skin rash, Hyperinsulinemic hypoglycemia, Hirsutism, Pneumonia, Abnormal circulating lipid concen... ORPHA:2298
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Hepatomegaly, Anemia, Persistence of hemoglobin F, Splenomegaly ORPHA:46532
Autoimmune Disease, Multisystem, Infantile-Onset, 2
Minimal change glomerulonephritis, Colitis OMIM:617006
Immunodeficiency 81
Decreased proportion of class-switched memory B cells, Skin rash, Autoimmune hemolytic anemia, Re... OMIM:619374
Spinocerebellar Ataxia Type 32
Testicular atrophy, Male infertility, Azoospermia ORPHA:276183
Mast Cell Sarcoma
Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Mastocytosis, Lymphadenopathy ORPHA:66661
Spermatogenic Failure 26
Infertility, Acephalic spermatozoa OMIM:617961
Immunodeficiency, Common Variable, 8, With Autoimmunity
Decreased proportion of class-switched memory B cells, Recurrent pneumonia, Autoimmune thrombocyt... OMIM:614700
Ectodermal Dysplasia 7, Hair/Nail Type
Onycholysis, Sparse hair, Sparse and thin eyebrow, Brittle hair, Alopecia, Dystrophic toenail, Dy... OMIM:614929
Immunodeficiency, Common Variable, 13
Decreased circulating antibody level, Pancytopenia, B lymphocytopenia, Recurrent bacterial infect... OMIM:616873
Immunodeficiency, Common Variable, 6
Autoimmune thrombocytopenia, Complete or near-complete absence of specific antibody response to t... OMIM:613496
Lymphoproliferative Syndrome, X-Linked, 2
Inflammation of the large intestine, Hemophagocytosis, Folliculitis, Acne, Decreased circulating ... OMIM:300635
Periventricular Nodular Heterotopia
Scoliosis, Joint hypermobility, Aortic regurgitation, Patent ductus arteriosus, Shoulder dislocat... ORPHA:98892
Double Uterus-Hemivagina-Renal Agenesis Syndrome
Hydrocolpos, Partial vaginal septum, Dyspareunia, Abnormality of the uterine cervix, Metrorrhagia... ORPHA:3411
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type
Scoliosis, Genu valgum, Hyperlordosis, Metaphyseal irregularity, Kyphosis, Ovoid vertebral bodies... ORPHA:93315
Lysosomal Acid Lipase Deficiency
Hypercholesterolemia, Vacuolated lymphocytes, Diarrhea, Leukopenia, Anemia, Vomiting, Hyperspleni... OMIM:278000
Spermatogenic Failure 21
Infertility, Reduced sperm motility, Acephalic spermatozoa OMIM:617644
Spermatogenic Failure 16
Infertility, Reduced sperm motility, Acephalic spermatozoa OMIM:617187
Peripheral Dysostosis
Hip osteoarthritis OMIM:170700
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Enlarged tonsils, Truncal obesity, Large for gestational age, Increased hepatic glycogen content ORPHA:293964
Congenital Atransferrinemia
Arthritis ORPHA:1195
Achalasia, Familial Esophageal
Rheumatoid arthritis, Keratoconjunctivitis sicca OMIM:200400
Insulin Autoimmune Syndrome
Fasting hypoglycemia, Systemic lupus erythematosus, Hyperinsulinemic hypoglycemia, Insulin resist... ORPHA:411593
X-Linked Lymphoproliferative Disease
Lymphocytosis, Pancytopenia, Histiocytosis, Increased B cell count, Lymphadenopathy, Cervical lym... ORPHA:2442
Neutropenia, Chronic Familial
Increased circulating antibody level, Periodontitis OMIM:162700
Immunodeficiency 10
Autoimmune hemolytic anemia, Thrombocytopenia, Recurrent infections, Recurrent bacterial infectio... OMIM:612783
Long Qt Syndrome 13
Paroxysmal atrial fibrillation, Atrial fibrillation, Hypertension, Coronary artery atherosclerosi... OMIM:613485
Osteoarthritis With Mild Chondrodysplasia
Platyspondyly, Hip osteoarthritis, Beaking of vertebral bodies, Irregular vertebral endplates, Jo... OMIM:604864
Neonatal Lupus Erythematosus
Skin rash, Abnormal electrophysiology of sinoatrial node origin, Arrhythmia, Hemolytic anemia, Ab... ORPHA:398124
Congenital Heart Defects, Multiple Types, 5
Atrial septal defect, Ventricular septal defect, Atrial fibrillation, Aortic valve stenosis, Doub... OMIM:617912
Bare Lymphocyte Syndrome, Type Ii
Cutaneous anergy, Recurrent fungal infections, Recurrent upper respiratory tract infections, Vira... OMIM:209920
Sandifer Syndrome
Hiatus hernia, Esophagitis, Feeding difficulties, Hematemesis, Gastroesophageal reflux, Episodic ... ORPHA:71272
Indolent Systemic Mastocytosis
Increased proportion of CD25+ mast cells, Skin rash, Pruritus, Maculopapular exanthema, Splenomeg... ORPHA:98848
Hypotrichosis 13
Woolly hair, Sparse and thin eyebrow, Sparse hair OMIM:615896
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism
Nonspherocytic hemolytic anemia, Jaundice, Splenomegaly OMIM:206400
Sea-Blue Histiocyte Disease
Thrombocytopenia, Cirrhosis, Sea-blue histiocytosis, Splenomegaly OMIM:269600
3-Phosphoserine Phosphatase Deficiency, Infantile/Juvenile Form
Esophagitis, Gastroesophageal reflux, Feeding difficulties ORPHA:79350
Neutrophilia, Hereditary
Neutrophilia, Hepatosplenomegaly OMIM:162830
Hypotrichosis 14
Sparse body hair, Sparse hair OMIM:618275
Monilethrix
Sparse hair, Nail dysplasia, Brittle hair, Alopecia, Abnormality of hair texture, Nail dystrophy OMIM:158000
Timothy Syndrome
Hypocalcemia, Ventricular septal defect, Patent ductus arteriosus, Pneumonia, Cardiomegaly, Prolo... OMIM:601005
Brachyolmia Type 1, Hobaek Type
Scoliosis, Squared-off platyspondyly, Short neck, Flattened proximal radial epiphyses, Kyphosis, ... OMIM:271530
Igg4-Related Aortitis
Increased circulating IgE level, Increased inflammatory response, Autoimmunity, Increased circula... ORPHA:449400
Retinal Telangiectasia And Hypogammaglobulinemia
Decreased circulating IgG level, Reduced delayed hypersensitivity OMIM:267900
Immunodeficiency 68
T lymphocytopenia, Lymphadenitis, Abnormal natural killer cell count, B lymphocytopenia, Abscess OMIM:612260
Spondyloarthropathy, Susceptibility To, 1
Inflammation of the large intestine, Arrhythmia, Aortic regurgitation, Hip osteoarthritis, Enthes... OMIM:106300
Schnitzler Syndrome
Skin rash, Pruritus, Increased circulating IgM level, Leukocytosis, Lymphoma, Hepatomegaly, Incre... ORPHA:37748
Macrosomia-Microphthalmia-Cleft Palate Syndrome
Hepatomegaly, Large for gestational age ORPHA:2432
L-Ferritin Deficiency
Alopecia OMIM:615604
Congenital Bile Acid Synthesis Defect Type 3
Elevated hepatic transaminase, Neonatal cholestatic liver disease, Biliary tract abnormality, Hep... ORPHA:79302
Chilblain Lupus
Skin rash, Increased circulating antibody level, Pruritis on hand, Discoid lupus rash, Chronic my... ORPHA:90280
Spinocerebellar Ataxia 32
Infertility, Testicular atrophy, Azoospermia OMIM:613909
Ulerythema Ophryogenesis
Abnormal eyebrow morphology, Alopecia, Inflammatory abnormality of the skin ORPHA:3406
Complement Factor H Deficiency
Decreased serum complement factor H, Depletion of components of the alternative complement pathwa... OMIM:609814
Chylomicron Retention Disease
Malnutrition, Hypotriglyceridemia, Steatorrhea, Hypocholesterolemia, Decreased LDL cholesterol co... OMIM:246700
Wolman Disease
Bone-marrow foam cells, Malnutrition, Steatorrhea, Esophageal varix, Adrenal insufficiency, Cache... ORPHA:75233
Familial Calcium Pyrophosphate Deposition
Joint swelling, Chondrocalcinosis, Joint dislocation, Osteoarthritis, Limitation of joint mobilit... ORPHA:1416
Aortic Aneurysm, Familial Thoracic 8
Coronary artery aneurysm, Coronary artery dissection, Descending aortic dissection, Ascending aor... OMIM:615436
Ehlers-Danlos Syndrome, Autosomal Dominant, Type Unspecified
Eczematoid dermatitis, Mucoid extracellular matrix accumulation, Aortic dissection, Aortic aneury... OMIM:130090
Tako-Tsubo Cardiomyopathy
Ventricular arrhythmia, Mildly elevated creatine kinase, Vomiting, Prolonged QTc interval, Syncop... ORPHA:66529
Monocyte Chemotactic Disorder
Cutaneous anergy, Chronic mucocutaneous candidiasis OMIM:252250
Combined Oxidative Phosphorylation Deficiency 19
Hepatic steatosis, Failure to thrive OMIM:615595
Familial Scheuermann Disease
Kyphosis, Abnormal form of the vertebral bodies ORPHA:3135
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase
Splenomegaly, Recurrent pancreatitis OMIM:118830
Immunodeficiency 16
Coombs-positive hemolytic anemia, Pancytopenia, Splenomegaly OMIM:615593
Mueller-Weiss Syndrome
Chondritis, Limitation of movement at ankles, Abnormality of the os naviculare pedis, Facet joint... ORPHA:566943
Thumb Stiffness-Brachydactyly-Intellectual Disability Syndrome
Abnormality of the metacarpal bones, Type A brachydactyly, Abnormal thumb morphology, Obesity ORPHA:1078
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Hepatomegaly, Recurrent infections, Lymphadenopathy OMIM:615895
Rheumatoid Factor-Positive Polyarticular Juvenile Idiopathic Arthritis
Abnormality of limb bone morphology, Joint swelling, Abnormal serum interleukin level, Synovitis,... ORPHA:85435
Dracunculiasis
Skin rash, Flexion contracture, Recurrent cutaneous abscess formation, Diarrhea, Nausea and vomit... ORPHA:231
Deafness, Autosomal Dominant 34, With Or Without Inflammation
Lymphadenopathy OMIM:617772
Myofibrillar Myopathy 10
Flexion contracture of finger, Ankle flexion contracture, Increased circulating troponin I concen... OMIM:619040
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset
Scoliosis, Hyperlordosis, Kyphosis, Flexion contracture, Elevated circulating creatine kinase con... OMIM:300718
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... ORPHA:70593
Linear Iga Dermatosis
Inflammation of the large intestine, Epistaxis ORPHA:46488
Bethlem Myopathy 2
Joint laxity, Kyphosis, Flexion contracture, Elevated circulating creatine kinase concentration, ... OMIM:616471
Fatty Liver Disease, Nonalcoholic, Susceptibility To, 2
Hepatic steatosis OMIM:613387
Fatty Liver Disease, Nonalcoholic, Susceptibility To, 1
Hepatic steatosis OMIM:613282
Immunodeficiency 21
Myeloid leukemia, Monocytopenia, Recurrent fungal infections, Abnormal natural killer cell morpho... OMIM:614172
Immunodeficiency 15A
Cutaneous abscess, Decreased proportion of CD8-positive T cells, Decreased proportion of memory B... OMIM:618204
Combined Oxidative Phosphorylation Deficiency 34
Hepatic steatosis, Hepatomegaly, Pancytopenia, Hepatic failure, Failure to thrive OMIM:617872
Immunodeficiency 27A
Thrombocytosis, Increased circulating IgM level, Leukocytosis, Histiocytosis, Increased circulati... OMIM:209950
Alpha-Heavy Chain Disease
Hepatomegaly, Dysgammaglobulinemia, Anemia, Splenomegaly, Lymphadenopathy ORPHA:100025
Long Qt Syndrome 16
Patent ductus arteriosus after birth at term, T-wave alternans, Perimembranous ventricular septal... OMIM:618782
Mitochondrial Complex I Deficiency, Nuclear Type 11
Hepatomegaly, Macrovesicular hepatic steatosis, Failure to thrive, Hypertrophic cardiomyopathy OMIM:618234
Autoimmune Lymphoproliferative Syndrome, Type Iia
Iron deficiency anemia, Coombs-positive hemolytic anemia, Elevated proportion of CD4-negative, CD... OMIM:603909
Premature Ovarian Failure 15
Oligomenorrhea OMIM:618096
Igg4-Related Retroperitoneal Fibrosis
Hydrocele testis, Elevated circulating creatinine concentration, Budd-Chiari syndrome, Weight los... ORPHA:49041
Premature Ovarian Failure 13
Oligomenorrhea OMIM:617442
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Coombs-positive hemolytic anemia, Increased circulating IgE level, Autoimmune thrombocytopenia, E... OMIM:304790
Cardiomyopathy, Dilated, 1B
Ventricular arrhythmia, Vascular dilatation, Impaired myocardial contractility, Congestive heart ... OMIM:600884
Obesity
Increased waist to hip ratio, Decreased resting energy expenditure, Obesity OMIM:601665
Ceroid storage disease
Abnormality of the spleen OMIM:214200
Spastic Paraplegia 18, Autosomal Recessive
Scoliosis, Spastic paraplegia, Upper limb spasticity, Kyphosis, Lower limb spasticity, Babinski sign OMIM:611225
Necrobiosis Lipoidica
Granuloma, Erythema, Abnormality of neutrophil physiology, Skin ulcer, Inflammatory abnormality o... ORPHA:542592
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
Absent peripheral lymph nodes in presence of infection, T lymphocytopenia, Cutaneous anergy, Abse... OMIM:600802
Lichtenstein Syndrome
Decreased circulating IgA level, Recurrent respiratory infections, Recurrent infections, Neutropenia OMIM:246550
Ring Chromosome Y Syndrome
Cryptorchidism, Ambiguous genitalia, Male hypogonadism, Azoospermia, Ambiguous genitalia, male, U... ORPHA:261529
Classic Mycosis Fungoides
Skin rash, Pruritus, Abnormal lymphocyte morphology, Erythema, Lymphadenopathy, Splenomegaly, Ecz... ORPHA:2584
Wiskott-Aldrich Syndrome 2
Defective T cell proliferation, Decreased proportion of CD8-positive T cells, Thrombocytopenia, R... OMIM:614493
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis
Skin rash, Allergic rhinitis, Malnutrition, Exocrine pancreatic insufficiency, Steatorrhea, Splen... OMIM:612714
Shwachman-Diamond Syndrome
Skin rash, Neutropenia, Pneumonia, Pancytopenia, Anemia, Leukopenia, Sinusitis, Eczema, Fat malab... ORPHA:811
Familial Bicuspid Aortic Valve
Abnormal left ventricular outflow tract morphology, Thoracic aorta calcification, Aortic regurgit... ORPHA:402075
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency
Decreased proportion of class-switched memory B cells, Coombs-positive hemolytic anemia, Systemic... OMIM:619375
Burkitt Lymphoma
Abnormality of the lymph nodes, Decreased proportion of CD4-positive helper T cells, Abnormality ... ORPHA:543
Mental Retardation, X-Linked 82
Scoliosis, Kyphosis OMIM:300518
Fragile Site, Distamycin A Type, Rare, Fra(16)(Q22.1)
Abnormality of the lymph nodes OMIM:136580
Autoinflammatory Syndrome, Familial, Behcet-Like
Skin rash, Ileal ulcer, Colitis, Anterior uveitis, Polyarticular arthritis OMIM:616744
Takayasu Arteritis
Arterial stenosis, Increased inflammatory response, Abnormal endocardium morphology, Abnormal hea... ORPHA:3287
Hyper-Ige Recurrent Infection Syndrome 2, Autosomal Recessive
Atopic dermatitis, Recurrent fungal infections, Recurrent viral infections, Recurrent sinopulmona... OMIM:243700
Atrial Fibrillation, Familial, 13
Paroxysmal atrial fibrillation, Aortic valve stenosis, Left atrial enlargement OMIM:615377
Carcinoma Of Esophagus
Lymphadenopathy ORPHA:70482
Neuronopathy, Distal Hereditary Motor, Type Viii
Scoliosis, Hyperlordosis, Arthrogryposis multiplex congenita, Kyphosis, Hip contracture, Knee fle... OMIM:600175
Atrial Standstill
Left ventricular noncompaction, Palpitations, Reduced ejection fraction, Arrhythmia, Ischemic str... ORPHA:1344
Immunodeficiency, Common Variable, 10
Anti-thyroid peroxidase antibody positivity, Anti-thyroglobulin antibody positivity, Recurrent ot... OMIM:615577
Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive
Hip osteoarthritis, Osteoarthritis OMIM:271600
Mayer-Rokitansky-Kuster-Hauser Syndrome
Hypoplasia of the uterus, Amenorrhea, Aplasia of the vagina OMIM:277000
Nodular Lymphocyte Predominant Hodgkin Lymphoma
Hepatomegaly, Lymphadenopathy, Splenomegaly ORPHA:86893
Cardiomyopathy, Familial Hypertrophic, 21
Mitral valve prolapse, Arrhythmia, Left ventricular hypertrophy, Cardiomyopathy OMIM:614676