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Gene: Ash1l MGI:2183158

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Gene Summary

Name:
ASH1 like histone lysine methyltransferase
Synonyms:
E430018P19Rik,  chromatin remodeling factor,  KMT2H,  8030453L17Rik

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IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
increased eosinophil cell number Ash1ltm2b(EUCOMM)Hmgu HET Early adult 6.46×10-18
increased fasting circulating glucose level Ash1ltm2b(EUCOMM)Hmgu HET   Early adult 8.35×10-05
increased basophil cell number Ash1ltm2b(EUCOMM)Hmgu HET Early adult 1.34×10-20
preweaning lethality, complete penetrance Ash1ltm2b(EUCOMM)Hmgu HOM   Early adult 0.00
increased heart weight Ash1ltm2b(EUCOMM)Hmgu HET Early adult 9.53×10-10
increased grip strength Ash1ltm2b(EUCOMM)Hmgu HET   Early adult 4.51×10-05
impaired pupillary reflex Ash1ltm2b(EUCOMM)Hmgu HET Early adult 7.37×10-12
abnormal coat appearance Ash1ltm2b(EUCOMM)Hmgu HET Early adult 1.69×10-06

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Viewing: all phenotypes

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 Ash1l 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 Ash1l by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Intellectual Developmental Disorder, Autosomal Dominant 52
Pectus carinatum, Bilateral cryptorchidism, Cryptorchidism, Astigmatism, Low anterior hairline, C... OMIM:617796

The table below shows human diseases predicted to be associated to Ash1l by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Immunodeficiency, Common Variable, 5
Recurrent bacterial infections, Antinuclear antibody positivity, Recurrent respiratory infections... OMIM:613495
Immunodeficiency 25
Recurrent pneumonia, Recurrent candida infections, Increased circulating IgE level, Complete or n... OMIM:610163
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Persistent CMV viremia, Recurrent otitis media, Autoimmune hemolytic anemia, Recurrent lower resp... OMIM:619220
Immunodeficiency With Hyper-Igm, Type 2
Decreased circulating IgG level, Decreased circulating IgA level, Complete or near-complete absen... OMIM:605258
Immunodeficiency With Hyper-Igm, Type 5
Decreased circulating IgG level, Decreased circulating IgA level, Impaired Ig class switch recomb... OMIM:608106
C1Q Deficiency 1
Systemic lupus erythematosus, Autoimmunity, Decreased circulating complement factor I concentrati... OMIM:613652
Immunodeficiency 89 And Autoimmunity
Reduced circulating interleukin 17A concentration, Reduced circulating interleukin 27 concentrati... OMIM:619632
Complement Component 3 Deficiency, Autosomal Recessive
Recurrent pneumonia, Recurrent tonsillitis, Systemic lupus erythematosus, Renal insufficiency, Me... OMIM:613779
Immunodeficiency 64 With Lymphoproliferation
Decreased circulating IgG level, Decreased lymphocyte proliferation in response to mitogen, Anti-... OMIM:618534
Autoimmune Disease, Multisystem, Infantile-Onset, 2
Decreased specific pneumococcal antibody level, Minimal change glomerulonephritis, Nephrotic synd... OMIM:617006
Systemic Lupus Erythematosus 16
Systemic lupus erythematosus, Anti-dsDNA antibody positivity, Antinuclear antibody positivity, De... OMIM:614420
Immunodeficiency, Common Variable, 6
Decreased specific pneumococcal antibody level, Chronic decreased circulating total IgG, Mesangia... OMIM:613496
Immunoglobulin A Deficiency 1
Recurrent respiratory infections, Decreased circulating IgA level, Autoimmunity, Recurrent infect... OMIM:137100
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis
Pneumonia, Glomerulonephritis, Autoimmune hemolytic anemia, Increased circulating antibody level OMIM:247800
C3 Glomerulopathy
Chronic kidney disease, Acute kidney injury, Glomerular extracapillary hypercellularity, Paraprot... ORPHA:329918
Histiocytosis, Familial Lipochrome
Recurrent infections, Increased alpha-globulin, Polyarticular arthritis, Increased circulating an... OMIM:235900
Proteasome-Associated Autoinflammatory Syndrome 2
Recurrent viral infections, Anti-thyroglobulin antibody positivity, Anti-beta-2-Glycoprotein I Ig... OMIM:618048
Immunodeficiency With Hyper-Igm, Type 3
Decreased circulating IgG level, Impaired memory B cell generation, Decreased circulating IgA lev... OMIM:606843
Immunodeficiency 33
Pneumocystis jirovecii pneumonia, Disseminated nontuberculous mycobacterial infection, Recurrent ... OMIM:300636
Immunodeficiency, partial combined, with absence of hla determinantsand beta-2-microglobulin from lymphocytes
Recurrent bacterial infections, Decreased circulating IgG level, Recurrent candida infections OMIM:242870
Immunodeficiency 86
Decreased circulating IgG level, Impaired oxidative burst, BCGitis, Increased circulating IgM level OMIM:619549
Autoimmune Lymphoproliferative Syndrome
Antineutrophil antibody positivity, Vasculitis, Platelet antibody positive, Reduced delayed hyper... OMIM:601859
Immunodeficiency 61
Recurrent otitis media, Decreased circulating IgG2 level, Recurrent sinusitis, Recurrent bacteria... OMIM:300310
Immunoglobulin A Deficiency 2
Decreased circulating IgA level, Autoimmunity, Recurrent infection of the gastrointestinal tract,... OMIM:609529
Autoimmune Lymphoproliferative Syndrome, Type Iii
Recurrent otitis media, Increased circulating antibody level, Decreased circulating complement C4... OMIM:615559
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency
Decreased circulating IgG level, Inflammation of the large intestine, Osteopenia, Recurrent mycob... ORPHA:98813
Activated Pi3K-Delta Syndrome
Pneumonia, Recurrent tonsillitis, Recurrent otitis media, Decreased circulating antibody level, A... ORPHA:397596
Immunodeficiency, Common Variable, 4
Decreased circulating IgG level, Recurrent pneumonia, Recurrent sinusitis, Recurrent bacterial in... OMIM:613494
Primary Membranoproliferative Glomerulonephritis
Chronic kidney disease, Hypoalbuminemia, Acute kidney injury, Stage 5 chronic kidney disease, Ren... ORPHA:54370
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant
Decreased specific pneumococcal antibody level, Decreased circulating IgG2 level, Recurrent sinop... OMIM:615513
Immunodeficiency 24
Decreased circulating IgG level, Partial absence of specific antibody response to tetanus vaccine... OMIM:615897
Thrombocytopenia With Elevated Serum Iga And Renal Disease
Hematuria, Increased circulating IgA level, Glomerulonephritis OMIM:314000
Immunodeficiency 10
Decreased circulating IgG level, Recurrent pneumonia, Sepsis, Recurrent urinary tract infections,... OMIM:612783
Idiopathic Non-Lupus Full-House Nephropathy
Acute kidney injury, Reduced circulating complement concentration, Abnormal glomerular mesangium ... ORPHA:567544
Autoimmune Lymphoproliferative Syndrome, Type Iia
Nephritis, Antineutrophil antibody positivity, Nephrotic syndrome, Gastrointestinal hemorrhage, V... OMIM:603909
Postinfectious Vasculitis
Abnormality of humoral immunity, Inflammatory abnormality of the skin, Increased circulating anti... ORPHA:48435
Immunodeficiency 95
Decreased circulating IgG3 level, Recurrent viral pneumonia, Recurrent viral upper respiratory tr... OMIM:619773
Severe Combined Immunodeficiency Due To Dclre1C Deficiency
Decreased circulating IgG level, Recurrent mycobacterial infections, Recurrent viral infections, ... ORPHA:275
Hyper-Ige Syndrome 5, Autosomal Recessive, With Recurrent Infections
Decreased circulating IgG level, Atopic dermatitis, Recurrent upper respiratory tract infections,... OMIM:618944
Immunodeficiency, Common Variable, 3
Chronic decreased circulating total IgG, Recurrent otitis media, Decreased circulating IgA level,... OMIM:613493
Agammaglobulinemia 4, Autosomal Recessive
Decreased circulating IgG level, Recurrent pneumonia, Recurrent otitis media, Decreased circulati... OMIM:613502
Immunodeficiency 35
Recurrent mycobacterial infections, Recurrent viral infections, Increased circulating IgE level, ... OMIM:611521
Immunodeficiency, Common Variable, 2
Decreased circulating IgG level, Recurrent pneumonia, Impaired T cell function, Recurrent otitis ... OMIM:240500
Agammaglobulinemia 2, Autosomal Recessive
Recurrent pneumonia, Recurrent otitis media, Decreased circulating IgA level, Recurrent bacterial... OMIM:613500
Leydig Cell Hypoplasia
Male hypogonadism, Hypoplasia of the Leydig cells, Breast aplasia, Abnormal external genitalia, I... ORPHA:755
Complement Component C1R/C1S Deficiency
Discoid lupus rash, Nephritis, Reduced circulating complement concentration, Autoimmunity, Recurr... OMIM:216950
Eosinophilia, Familial
Leukocytosis, Eosinophilia, Thrombocytopenia, Myocardial eosinophilic infiltration, Anemia OMIM:131400
Immunodeficiency 51
Pneumonia, Folliculitis, Chronic mucocutaneous candidiasis, Eczematoid dermatitis, Cutaneous absc... OMIM:613953
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein
Recurrent bacterial infections, Recurrent viral infections, Abnormality of T cell physiology, Rec... OMIM:308220
Sting-Associated Vasculopathy, Infantile-Onset
Pustular rash, Recurrent respiratory infections, Joint stiffness, Malar rash, Skin rash, Cytoplas... OMIM:615934
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Persistent CMV viremia, Recurrent urinary tract infections, Recurrent otitis media, Autoimmunity,... OMIM:618495
Lymphoma, Hodgkin, Classic
Polyclonal elevation of IgM OMIM:236000
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation
Herpes simplex encephalitis, Increased circulating IgE level, Recurrent otitis media, Molluscum c... OMIM:618982
Immunodeficiency With Hyper-Igm, Type 1
Enteroviral encephalitis, Increased circulating IgA level, Meningitis, Recurrent lower respirator... OMIM:308230
Complement Component 6 Deficiency
Recurrent meningococcal disease, Reduced circulating CH50 activity, Decreased circulating complem... OMIM:612446
Complement Factor I Deficiency
Decreased circulating complement factor B concentration, Vasculitis, Recurrent urinary tract infe... OMIM:610984
Complement Component 4A Deficiency
Vasculitis, Systemic lupus erythematosus, Decreased circulating complement C4 concentration, Glom... OMIM:614380
Immunodeficiency 62
Decreased circulating IgG level, Recurrent upper respiratory tract infections, Complete or near-c... OMIM:618459
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Decreased lymphocyte proliferation in response to mitogen, Recurrent viral infections, Recurrent ... ORPHA:169154
Agammaglobulinemia 6, Autosomal Recessive
Decreased circulating IgG level, Recurrent pneumonia, Recurrent otitis media, Decreased circulati... OMIM:612692
Immunodeficiency, Common Variable, 7
Decreased specific pneumococcal antibody level, Decreased circulating total IgG, Recurrent respir... OMIM:614699
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections
Allergic rhinitis, Recurrent viral infections, Increased circulating IgE level, Recurrent otitis ... OMIM:243700
Hypereosinophilic Syndrome, Idiopathic
Restrictive cardiomyopathy, Endocardial fibrosis, Splenomegaly, Eosinophilia, Hepatomegaly, Myelo... OMIM:607685
Axonal Polyneuropathy Associated With Igg/Igm/Iga Monoclonal Gammopathy
Monoclonal immunoglobulin M proteinemia, Increased circulating beta-2-microglobulin level, Cryogl... ORPHA:209004
C1Q Deficiency 3
Discoid lupus rash, Antinuclear antibody positivity, Decreased circulating C1q concentration, Rec... OMIM:620322
Complement Component 7 Deficiency
Decreased circulating complement C7 concentration, Recurrent Neisserial infections, Recurrent men... OMIM:610102
Complement Component 8 Deficiency, Type I
Decreased circulating complement C8 concentration, Meningitis, Systemic lupus erythematosus OMIM:613790
Asthma, Short Stature, And Elevated Iga
Increased circulating IgA level OMIM:208600
Immunodeficiency 36 With Lymphoproliferation
Persistent CMV viremia, Decreased circulating IgG level, Recurrent upper respiratory tract infect... OMIM:616005
Macroglobulinemia, Waldenstrom, Susceptibility To, 1
Monoclonal immunoglobulin M proteinemia, Polyclonal elevation of IgM OMIM:153600
Chilblain Lupus
Discoid lupus rash, Inflammatory abnormality of the skin, Systemic lupus erythematosus, Malar ras... ORPHA:90280
Autoimmune Hepatitis
Antineutrophil antibody positivity, Inflammation of the large intestine, Gastrointestinal hemorrh... ORPHA:2137
Immune Deficiency, Familial Variable
Recurrent infections, Decreased circulating IgG level, Decreased circulating IgA level OMIM:146830
Agammaglobulinemia 3, Autosomal Recessive
Recurrent otitis media, Recurrent bronchitis, Agammaglobulinemia, Recurrent bacterial infections,... OMIM:613501
Simple Cryoglobulinemia
Abnormality of the kidney, Nephrotic syndrome, Vasculitis, Gastrointestinal hemorrhage, Paraprote... ORPHA:91139
Autoinflammation With Arthritis And Dyskeratosis
Polyarticular arthritis, Autoimmune hemolytic anemia, Corneal neovascularization, Antinuclear ant... OMIM:617388
Immunodeficiency With Hyper-Igm, Type 4
Recurrent upper respiratory tract infections, Osteomyelitis, Recurrent infection of the gastroint... OMIM:608184
Caspase 8 Deficiency
Pneumonia, Decreased circulating IgG level, Eczematoid dermatitis, Decreased circulating IgA leve... OMIM:607271
Retinal Telangiectasia And Hypogammaglobulinemia
Reduced delayed hypersensitivity, Decreased circulating IgG level, Retinal telangiectasia OMIM:267900
Immunodeficiency 113 With Autoimmunity And Autoinflammation
Minimal change glomerulonephritis, Hematochezia, Recurrent viral infections, Intraalveolar phosph... OMIM:620565
Immunodeficiency 88
Eosinophilia OMIM:619630
Immunodeficiency By Defective Expression Of Mhc Class Ii
Abnormality of humoral immunity, Recurrent viral infections, Acute otitis media, Autoimmune throm... ORPHA:572
Whim Syndrome 1
Decreased circulating IgG level, Recurrent upper respiratory tract infections, Recurrent bacteria... OMIM:193670
Immunodeficiency, Common Variable, 1
Pneumonia, Decreased circulating IgG level, Recurrent pneumonia, Impaired T cell function, Recurr... OMIM:607594
Immunodeficiency 27A
Pneumonia, Hypoalbuminemia, Increased inflammatory response, Salmonella osteomyelitis, Rheumatoid... OMIM:209950
Satoyoshi Syndrome
Alopecia universalis, Abnormal epiphysis morphology, Abnormality of the uterus, Abnormal joint mo... ORPHA:3130
Complement Factor D Deficiency
Partial functional complement factor D deficiency, Recurrent bacterial infections OMIM:613912
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Abnormality of humoral immunity, Inflammatory abnormality of the skin, Recurrent pneumonia, Recur... ORPHA:277
Ring Chromosome Y Syndrome
Streak ovary, Cryptorchidism, Abnormality of the female genitalia, Hypospadias, Male infertility,... ORPHA:261529
Pgm3-Cdg
Allergic rhinitis, Recurrent viral infections, Increased circulating IgE level, Esophagitis, Incr... ORPHA:443811
Severe Combined Immunodeficiency, X-Linked
Pneumonia, Decreased circulating IgG level, Recurrent pneumonia, Decreased circulating IgA level,... OMIM:300400
Adult Idiopathic Neutropenia
Recurrent aphthous stomatitis, Helicobacter pylori infection, Recurrent fungal infections, Recurr... ORPHA:2688
Agammaglobulinemia 10, Autosomal Dominant
Decreased circulating IgG level, Decreased circulating IgA level, Recurrent sinusitis, Agammaglob... OMIM:619707
Immunodeficiency, Common Variable, 10
Decreased circulating IgG level, Recurrent pneumonia, Anti-thyroglobulin antibody positivity, Fre... OMIM:615577
Insulin Autoimmune Syndrome
Systemic lupus erythematosus, Autoimmunity, Increased circulating antibody level, Arthralgia/arth... ORPHA:411593
Immunodeficiency 23
Allergic rhinitis, Recurrent staphylococcal infections, Eczematoid dermatitis, Chronic mucocutane... OMIM:615816
Myeloproliferative Disorder, Chronic, With Eosinophilia
Eosinophilia, Myeloproliferative disorder OMIM:131440
Immunodeficiency 115 With Autoinflammation
Hypoalbuminemia, Decreased circulating IgG level, Recurrent viral infections, Eczematoid dermatit... OMIM:620632
Mendelian Susceptibility To Mycobacterial Diseases Due To Complete Il12Rb1 Deficiency
Pneumonia, Recurrent mycobacterial infections, Abnormal circulating interleukin concentration, Re... ORPHA:319552
Cernunnos-Xlf Deficiency
Recurrent bacterial infections, Decreased circulating antibody level, Recurrent viral infections,... ORPHA:169079
Neutropenia, Lethal Congenital, With Eosinophilia
Eosinophilia, Neutropenia OMIM:257100
Polyneuropathy Associated With Igm Monoclonal Gammopathy With Anti-Mag
Monoclonal immunoglobulin M proteinemia ORPHA:639
Complement Component 8 Deficiency, Type Ii
Decreased circulating complement C8 concentration, Meningitis, Recurrent Neisserial infections OMIM:613789
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Acute monocytic leukemia, Congenital agranulocytosis, Thrombocytosis, Eosinophilia, Neutropenia, ... OMIM:202700
Müllerian Aplasia And Hyperandrogenism
High anterior hairline, Frontal balding, Abnormal vagina morphology, Abnormality of the ovary, Fa... ORPHA:247768
Immunodeficiency 112
Decreased circulating IgG level, Recurrent viral infections, Chronic mucocutaneous candidiasis, B... OMIM:620449
Lymphoproliferative Syndrome, X-Linked, 1
Hypoalbuminemia, Decreased circulating IgG level, Vasculitis, Decreased circulating antibody leve... OMIM:308240
Autoimmune Interstitial Lung, Joint, And Kidney Disease
Pulmonary hemorrhage, Mesangial hypercellularity, Antinuclear antibody positivity, Arthritis, Ele... OMIM:616414
Mannose-Binding Lectin Deficiency
Recurrent Klebsiella infections, Recurrent meningococcal disease, Disseminated cryptosporidium in... OMIM:614372
Lipodystrophy, Partial, Acquired, Susceptibility To
Abnormal circulating lipid concentration, Proteinuria, Hematuria, Membranoproliferative glomerulo... OMIM:608709
Androgen Insensitivity, Partial
Abnormal rib cage morphology, Absent vas deferens, Bifid scrotum, Hypogonadism, Infertility, Azoo... OMIM:312300
Ectodermal Dysplasia And Immunodeficiency 1
Molluscum contagiosum, Abnormal circulating IgG level, Recurrent bacterial infections, Dysgammagl... OMIM:300291
Immunodeficiency 18
Recurrent pneumonia, Recurrent otitis media, Abnormal circulating IgG level, Recurrent gastroente... OMIM:615615
Complement Factor H Deficiency
Thickened glomerular basement membrane, Chronic kidney disease, Hematuria, Decreased circulating ... OMIM:609814
Iga Pemphigus
Cutaneous abscess, Neutrophilic infiltration of the skin, Pustule, Increased circulating IgA leve... ORPHA:555905
Hepatic Venoocclusive Disease With Immunodeficiency
Decreased circulating IgG level OMIM:235550
Gamma-A-Globulin, Defect In Assembly Of
Decreased circulating IgA level, Recurrent respiratory infections OMIM:137050
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency
Allergic rhinitis, Rheumatoid arthritis, Systemic lupus erythematosus, Recurrent otitis media, Ps... ORPHA:183675
Nevoid Hypermelanosis, Linear And Whorled
Eosinophilia OMIM:614323
Immunodeficiency 102
Decreased circulating IgG level, Recurrent upper respiratory tract infections, Sepsis, Increased ... OMIM:301082
Immunoerythromyeloid Hypoplasia
Decreased circulating IgG level OMIM:242880
Immunodeficiency 44
Post-vaccination measles, Severe viral infection, Decreased circulating IgA level, Abnormal circu... OMIM:616636
Selective Igm Deficiency
Allergic rhinitis, Rheumatoid arthritis, Lymphadenitis, Systemic lupus erythematosus, Recurrent b... ORPHA:331235
Autoimmune Disease, Multisystem, Infantile-Onset, 3
Decreased specific pneumococcal antibody level, Partial absence of specific antibody response to ... OMIM:620430
B-Cell Expansion With Nfkb And T-Cell Anergy
Decreased circulating total IgM, Decreased circulating IgA level, Decreased specific antibody res... OMIM:616452
Neutropenia, Chronic Familial
Periodontitis, Increased circulating antibody level OMIM:162700
Masp2 Deficiency
Reduced circulating complement concentration, Recurrent pneumonia, Ulcerative colitis, Systemic l... OMIM:613791
Schnitzler Syndrome
Vasculitis, Skin rash, Arthritis, Increased bone mineral density, Increased circulating IgM level ORPHA:37748
17Q23.1Q23.2 Microdeletion Syndrome
Highly arched eyebrow, Shallow acetabular fossae, Abnormal epiphysis morphology, Sandal gap, Pate... ORPHA:261279
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Pneumonia, Decreased circulating IgG level, Decreased lymphocyte proliferation in response to mit... ORPHA:276
Heparin-Induced Thrombocytopenia
Pulmonary embolism, Cerebral ischemia, Increased inflammatory response, Autoimmune thrombocytopen... ORPHA:3325
Lipodystrophy, Partial, Acquired, With Low Complement Component C3, With Or Without Glomerulonephritis
Proteinuria, Hematuria, Membranoproliferative glomerulonephritis, Nephrotic syndrome, Recurrent i... OMIM:613913
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome
Eczematoid dermatitis, Increased circulating IgE level, Reduced delayed hypersensitivity, Reduced... OMIM:617241
Ichthyosis-Prematurity Syndrome
Eosinophilia ORPHA:88621
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Eczematoid dermatitis, Hepatitis, Increased circulating IgE level, Severe infection, Erythroderma... OMIM:304790
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Atrophic gastritis, Decreased circulating IgG level, Recurrent upper respiratory tract infections... OMIM:616100
Immunodeficiency 52
Persistent CMV viremia, Recurrent pneumonia, Decreased circulating IgA level, Decreased circulati... OMIM:617514
Autoimmune Lymphoproliferative Syndrome
Systemic lupus erythematosus, Increased circulating IgE level, Increased circulating antibody lev... ORPHA:3261
Pa Polymorphism Of Alpha-2-Globulin
Abnormal immunoglobulin level OMIM:260100
Immunodeficiency 50
Recurrent respiratory infections, Decreased circulating antibody level, Eczematoid dermatitis, Re... OMIM:300988
Ovarian Dysgenesis 2
Streak ovary, Hirsutism, Delayed puberty, Primary amenorrhea, Premature ovarian insufficiency, Hy... OMIM:300510
Diethylstilbestrol Syndrome
Hypoplasia of the uterus, Abnormality of the uterus, Vaginal neoplasm, Cryptorchidism, Testicular... ORPHA:1916
C1Q Deficiency 2
Discoid lupus rash, Pneumocystis carinii pneumonia, Sepsis, Recurrent otitis media, Malar rash, C... OMIM:620321
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 4
Agammaglobulinemia, Recurrent infections, Decreased circulating antibody level OMIM:616911
Acute Myelomonocytic Leukemia
Anemia, Eosinophilia, Leukocytosis, Thrombocytopenia ORPHA:517
Juvenile Temporal Arteritis
Eosinophilia, Leukocytosis ORPHA:26137
Igg4-Related Aortitis
Increased circulating IgE level, Reduced circulating complement concentration, Increased circulat... ORPHA:449400
Mhc Class Ii Deficiency 1
Cutaneous anergy, Recurrent upper respiratory tract infections, Recurrent viral infections, Chron... OMIM:209920
Facial Dysmorphism, Immunodeficiency, Livedo, And Short Stature
Recurrent upper respiratory tract infections, Decreased circulating total IgM, Recurrent lower re... OMIM:615139
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Inflammatory abnormality of the skin, Increased circulating IgE level, Psoriasiform dermatitis, C... ORPHA:37042
Immunodeficiency 11B With Atopic Dermatitis
Pneumonia, Atopic dermatitis, Bronchiectasis, Increased circulating IgE level, Disseminated mollu... OMIM:617638
Immunodeficiency 96
Decreased circulating IgG level, Multicystic kidney dysplasia, Eczematoid dermatitis, Recurrent o... OMIM:619774
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Pneumonia, Decreased circulating IgG level, Decreased lymphocyte proliferation in response to mit... ORPHA:169160
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Decreased circulating IgG level, Decreased lymphocyte proliferation in response to mitogen, Recur... ORPHA:331206
C3 Glomerulopathy 3
Thickening of glomerular capillary wall, Stage 5 chronic kidney disease, Renal insufficiency, Mes... OMIM:614809
Premature Ovarian Failure 7
Clitoral hypertrophy, Elevated circulating luteinizing hormone level, Gonadal dysgenesis, Elevate... OMIM:612964
Immunodeficiency 60 And Autoimmunity
Decreased circulating IgG level, Bronchiectasis, Decreased circulating IgA level, Crohn's disease... OMIM:618394
Lupus Erythematosus Tumidus
Anti-dsDNA antibody positivity, Antinuclear antibody positivity, Deep dermal perivascular inflamm... ORPHA:90283
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections
Atopic dermatitis, Recurrent pneumonia, Eczematoid dermatitis, Cutaneous abscess, Chronic mucocut... OMIM:618282
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency
Inflammation of the large intestine, Psoriasiform dermatitis, Recurrent lower respiratory tract i... ORPHA:436159
Immunodeficiency, Common Variable, 14
Decreased circulating IgG level, Defective B cell differentiation, Decreased circulating IgA leve... OMIM:617765
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2
Pneumonia, Decreased circulating IgG level, Pneumocystis jirovecii pneumonia, Recurrent upper res... OMIM:614069
Immunodeficiency 14B, Autosomal Recessive
Decreased circulating IgG level, Inflammation of the large intestine, Recurrent pneumonia, Polyar... OMIM:619281
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency
Systemic lupus erythematosus, Anti-dsDNA antibody positivity, Antinuclear antibody positivity, An... OMIM:619375
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia
Hypohomocysteinemia, Hypocystinemia, Decreased circulating IgA level, Recurrent skin infections, ... OMIM:617744
Immunodeficiency, Common Variable, 13
Recurrent bacterial infections, Recurrent fungal infections, Decreased circulating antibody level... OMIM:616873
Nephrotic Syndrome, Type 7
Thickened glomerular basement membrane, Hypoalbuminemia, Acute kidney injury, Stage 5 chronic kid... OMIM:615008
Zika Virus Disease
Myelitis, Ankle swelling, Wrist swelling, Skin rash, Maculopapular exanthema, Infectious encephal... ORPHA:448237
Hyperimmunoglobulinemia D With Periodic Fever
Vasculitis, Gastrointestinal hemorrhage, Limitation of joint mobility, Recurrent aphthous stomati... ORPHA:343
Thymoma
Rheumatoid arthritis, Anti-acetylcholine receptor antibody positivity, Systemic lupus erythematos... ORPHA:99867
Immunodeficiency 22
Decreased circulating IgG level, Recurrent upper respiratory tract infections, Decreased circulat... OMIM:615758
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome
Pectus carinatum, Finger syndactyly, Thick eyebrow, Radioulnar synostosis, Epicanthus, Abnormal r... ORPHA:3268
Rheumatoid Factor-Positive Polyarticular Juvenile Idiopathic Arthritis
Osteopenia, Abnormal circulating interleukin concentration, Limitation of joint mobility, Polyart... ORPHA:85435
Autoinflammation, Panniculitis, And Dermatosis Syndrome
Vasculitis, Skin rash, Joint swelling, Increased circulating IgA level, Elevated circulating C-re... OMIM:617099
Immunodeficiency 109 With Lymphoproliferation
Decreased circulating IgG level, Decreased specific pneumococcal antibody level, Decreased lympho... OMIM:620282
T-Cell Immunodeficiency With Thymic Aplasia
Meningitis, Chronic otitis media, Decreased lymphocyte proliferation in response to mitogen, Ecze... ORPHA:83471
Persistent Polyclonal B-Cell Lymphocytosis
Decreased circulating total IgM, Recurrent infections OMIM:606445
Panniculitis-Induced Localized Lipodystrophy
Abnormal immunoglobulin level, Inflammatory abnormality of the skin, Antinuclear antibody positiv... ORPHA:90159
Immunodeficiency 70
Decreased circulating total IgG, Recurrent sinusitis, Furuncle, Decreased circulating total IgM, ... OMIM:618969
Immunodeficiency 43
Hypoalbuminemia, Decreased circulating IgG level, Decreased specific antibody response to polysac... OMIM:241600
Limb-Mammary Syndrome
Alopecia, Toe syndactyly, Sparse eyebrow, Blepharitis, Absent nipple, Lacrimal duct atresia, Olig... ORPHA:69085
Immunodeficiency 103, Susceptibility To Fungal Infections
Decreased circulating iron concentration, Increased circulating IgE level, Phaeohyphomycosis, Ony... OMIM:212050
Agammaglobulinemia 8A, Autosomal Dominant
Agammaglobulinemia, Recurrent otitis media, Recurrent infections, Post-vaccination polio OMIM:616941
Satoyoshi Syndrome
Alopecia universalis, Alopecia, Genu valgum, Amenorrhea, Osteolytic defects of the phalanges of t... OMIM:600705
Ras-Associated Autoimmune Leukoproliferative Disorder
Recurrent infections, Recurrent respiratory infections, Autoimmunity, Increased circulating antib... OMIM:614470
Congenital Bilateral Absence Of Vas Deferens
Obstructive azoospermia, Absent vas deferens, Oligozoospermia, Male infertility ORPHA:48
Igg4-Related Kidney Disease
Chronic kidney disease, Inflammatory abnormality of the skin, Lymphadenitis, Arteritis, Increased... ORPHA:449395
Wiskott-Aldrich Syndrome
Nephropathy, Inflammation of the large intestine, Increased circulating IgE level, Abnormal delay... OMIM:301000
Systemic Lupus Erythematosus
Nephritis, Systemic lupus erythematosus, Malar rash, Antiphospholipid antibody positivity, Antinu... OMIM:152700
Immunodeficiency, Common Variable, 11
Decreased circulating IgG level, Inflammation of the large intestine, Increased circulating IgE l... OMIM:615767
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies
Azoospermia, Sprengel anomaly, Abnormal rib morphology, Short stature, Hypoplasia of the uterus, ... OMIM:601076
Boutonneuse Fever
Vasculitis, Renal insufficiency, Skin rash, Maculopapular exanthema, Increased circulating IgG le... ORPHA:83313
Generalized Eruptive Histiocytosis
Leukemia, Hypereosinophilia, Histiocytosis ORPHA:157991
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome
Male hypogonadism, Abnormal vagina morphology, Gonadal dysgenesis, Abnormal female external genit... ORPHA:168563
Myalgia-Eosinophilia Syndrome Associated With Tryptophan
Lymphopenia, Eosinophilia ORPHA:2582
Nephrotic Syndrome, Type 23
Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Steroid-resistant nephroti... OMIM:619201
Seckel Syndrome 7
Severe short stature, Intrauterine growth retardation, Madelung deformity, Primary amenorrhea, Hi... OMIM:614851
Normosmic Congenital Hypogonadotropic Hypogonadism
Male hypogonadism, Sparse body hair, Non-obstructive azoospermia, Decreased testicular size, Azoo... ORPHA:432
Immunodeficiency Due To Defect In Mapbp-Interacting Protein
Decreased circulating total IgM, Recurrent bronchopulmonary infections OMIM:610798
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome
Inflammation of the large intestine, Hyperbilirubinemia, Interface hepatitis, Anti-liver cytosoli... ORPHA:562639
Hyper-Igd Syndrome
Recurrent infections, Lymphadenitis, Molluscum contagiosum, Skin rash, Elevated urine mevalonic a... OMIM:260920
Primary Biliary Cholangitis
Hypoalbuminemia, Hepatitis, Abnormal circulating lipid concentration, Autoimmunity, Portal hypert... ORPHA:186
Combined Immunodeficiency Due To Dock8 Deficiency
Pneumonia, Atopic dermatitis, Recurrent viral infections, Recurrent respiratory infections, Recur... ORPHA:217390
Transcobalamin Deficiency
Decreased circulating IgG level, Acute kidney injury, Methylmalonic aciduria, Decreased circulati... ORPHA:859
Immunodeficiency 12
Recurrent viral infections, Decreased lymphocyte proliferation in response to anti-CD3, Recurrent... OMIM:615468
Combined Immunodeficiency, X-Linked
Pneumonia, Decreased circulating IgG level, Pneumocystis carinii pneumonia, Otitis media, Recurre... OMIM:312863
Nephrotic Syndrome, Type 15
Hypoalbuminemia, Minimal change glomerulonephritis, Steroid-resistant nephrotic syndrome, Stage 5... OMIM:617609
Premature Ovarian Failure 13
Female infertility, Amenorrhea, Elevated circulating follicle stimulating hormone level, Oligomen... OMIM:617442
Perrault Syndrome 6
Irregular menstruation, Streak ovary, Primary amenorrhea, Premature ovarian insufficiency, Hypopl... OMIM:617565
Premature Ovarian Failure 6
Elevated circulating luteinizing hormone level, Female infertility, Streak ovary, Elevated circul... OMIM:612310
Agammaglobulinemia 8B, Autosomal Recessive
Decreased circulating IgG level, Partial absence of specific antibody response to tetanus vaccine... OMIM:619824
Purine Nucleoside Phosphorylase Deficiency
Hypouricemia, Decreased urinary urate, Recurrent viral infections, Recurrent lower respiratory tr... OMIM:613179
Ovarian Dysgenesis 7
Elevated circulating luteinizing hormone level, Elevated circulating follicle stimulating hormone... OMIM:618117
Angiostrongyliasis
Unusual CNS infection, Stiff neck, Increased circulating specific IgE antibody, Increased circula... ORPHA:74
Acute Lung Injury
Pneumonia, Diffuse alveolar hemorrhage, Sepsis, Abnormality of tumor necrosis factor secretion, S... ORPHA:178320
Keratosis Follicularis Spinulosa Decalvans, X-Linked
Sparse eyebrow, Folliculitis, Keratitis, Corneal dystrophy, Nail dystrophy, Sparse eyelashes, Dys... OMIM:308800
Acute Zonal Occult Outer Retinopathy
Abnormal fundus fluorescein angiography, Pigmentary retinopathy, Vitreous inflammatory cells, Mar... ORPHA:284454
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive
Pneumonia, Failure to thrive secondary to recurrent infections, Panhypogammaglobulinemia, Otitis ... OMIM:601457
Clouston Syndrome
Cataract, Alopecia, Sparse eyebrow, Fine hair, Alopecia totalis, Brittle hair, Nail dystrophy, Sp... OMIM:129500
Immunodeficiency 34
Recurrent mycobacterial infections, Pulmonary tuberculosis, BCGosis OMIM:300645
Hyper-Ige Syndrome 6, Autosomal Dominant, With Recurrent Infections
Atopic dermatitis, Recurrent viral infections, Increased circulating IgE level, Eosinophilic infi... OMIM:620532
Deafness, Neural, With Atypical Atopic Dermatitis
Increased circulating IgE level, Late onset atopic dermatitis OMIM:221700
Hyper-Ige Syndrome 4B, Autosomal Recessive, With Recurrent Infections
Joint contracture of the hand, Bronchiectasis, Keratitis, Eczematoid dermatitis, Increased circul... OMIM:618523
Moebius Syndrome
Aplasia/Hypoplasia of the radius, Finger syndactyly, Breast aplasia, Absent hand, Aplasia/Hypopla... ORPHA:570
Testicular Agenesis
Absent external genitalia, Hypoplasia of the uterus, Vanishing testis, Ambiguous genitalia, Uroge... ORPHA:325124
Chronic Myeloid Leukemia
Abnormal granulocyte morphology, Leukocytosis, Splenomegaly, Abnormal basophil morphology, Thromb... ORPHA:521
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia
Decreased testicular size, Cryptorchidism, Hypogonadotropic hypogonadism, Hypoplasia of the ovary... OMIM:614841
Premature Ovarian Failure 3
Premature ovarian insufficiency, Hypoplasia of the uterus, Secondary amenorrhea OMIM:608996
Macrophage Activation Syndrome
Hypoalbuminemia, Abnormal circulating interleukin concentration, Hepatitis, Abnormality of tumor ... ORPHA:158061
Keratosis Follicularis Spinulosa Decalvans, Autosomal Dominant
Cataract, Alopecia, Sparse eyebrow, Keratitis, Folliculitis, Nail dystrophy, Sparse eyelashes, Sc... OMIM:612843
Nephrotic Syndrome, Type 10
Minimal change glomerulonephritis, Nephrotic syndrome, Steroid-resistant nephrotic syndrome, Podo... OMIM:615861
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate
Ankyloblepharon, Conjunctivitis, Sparse body hair, Supernumerary nipple, Lacrimal duct atresia, N... OMIM:106260
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 2, Autosomal Dominant
Increased circulating IgE level, Recurrent infections, Eczematoid dermatitis, Thyroiditis OMIM:618985
Ovarian Dysgenesis 5
Elevated circulating luteinizing hormone level, Elevated circulating follicle stimulating hormone... OMIM:617690
Subcorneal Pustular Dermatosis
Rheumatoid arthritis, Systemic lupus erythematosus, Autoimmunity, Increased circulating antibody ... ORPHA:48377
Immunodeficiency 85 And Autoimmunity
Decreased circulating IgG level, Eczematoid dermatitis, Decreased circulating IgA level, Oligoart... OMIM:619510
Ovarian Dysgenesis 6
Hypoplasia of the uterus, Hypergonadotropic hypogonadism, Primary amenorrhea OMIM:618078
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia
Decreased circulating total IgM, Decreased circulating IgG level, Recurrent respiratory infections OMIM:618987
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections
Decreased circulating IgG level, Recurrent pneumonia, Atopic dermatitis, Recurrent upper respirat... OMIM:619752
Immunodeficiency 67
Recurrent staphylococcal infections, Increased circulating IgE level, Complete or near-complete a... OMIM:607676
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia
Pneumonia, Recurrent enteroviral infections, Panhypogammaglobulinemia, Recurrent otitis media, Py... OMIM:307200
Blepharophimosis, Ptosis, And Epicanthus Inversus
Irregular menstruation, Highly arched eyebrow, Sparse pubic hair, Microcornea, Female infertility... OMIM:110100
Catastrophic Antiphospholipid Syndrome
Anticardiolipin IgG antibody positivity, Pulmonary embolism, Arterial occlusion, Systemic lupus e... ORPHA:464343
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia
Decreased circulating IgG level, Joint dislocation, Recurrent urinary tract infections, Joint sti... OMIM:620210
Ovarian Dysgenesis 9
Elevated circulating luteinizing hormone level, Hypoplasia of the ovary, Elevated circulating fol... OMIM:619665
Perrault Syndrome 4
Obesity, Cubitus valgus, Hypoplasia of the ovary, Oligomenorrhea, Primary amenorrhea, Increased c... OMIM:615300
Loeffler Endocarditis
Aortic valve stenosis, Restrictive cardiomyopathy, Endocardial fibrosis, Abnormal heart valve mor... ORPHA:75566
Schimke Immuno-Osseous Dysplasia
Nephropathy, Minimal change glomerulonephritis, Shallow acetabular fossae, Abnormal lymphocyte ph... ORPHA:1830
Cornelia De Lange Syndrome
Small hand, Toe syndactyly, Elbow dislocation, Cryptorchidism, Congenital diaphragmatic hernia, G... ORPHA:199
Ige Responsiveness, Atopic
Increased circulating IgE level, Allergic rhinitis, Eczematoid dermatitis OMIM:147050
Griscelli Syndrome, Type 2
Reduced delayed hypersensitivity, Recurrent bacterial infections OMIM:607624
Congenital Membranous Nephropathy Due To Fetomaternal Anti-Neutral Endopeptidase Alloimmunization
Nephrotic syndrome, Renal insufficiency, Glomerulonephritis, Glomerular deposits ORPHA:69063
Insulin-Resistance Syndrome Type B
Pneumonia, Decreased circulating complement factor B concentration, Nephritis, Hypotriglyceridemi... ORPHA:2298
Vas Deferens, Congenital Bilateral Aplasia Of, X-Linked
Azoospermia, Absent vas deferens, Male infertility OMIM:300985
Vas Deferens, Congenital Bilateral Aplasia Of
Azoospermia, Absent vas deferens, Male infertility OMIM:277180
Neutropenia, Severe Congenital, 6, Autosomal Recessive
Recurrent otitis media, Recurrent respiratory infections, Recurrent bacterial infections OMIM:616022
Perrault Syndrome 3
Elevated circulating luteinizing hormone level, Streak ovary, Elevated circulating follicle stimu... OMIM:614129
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome
Small scrotum, Abnormality of the humeroulnar joint, Sparse body hair, Hypogonadism, Decreased te... ORPHA:2234
Female Infertility Due To Oocyte Meiotic Arrest
Abnormal meiosis, Female infertility, Oocyte arrest at metaphase I ORPHA:488191
Agammaglobulinemia 9, Autosomal Recessive
Agammaglobulinemia, Seborrheic dermatitis, Eczematoid dermatitis, Recurrent bacterial infections OMIM:619693
Erythema Elevatum Diutinum
Skin rash, Vasculitis in the skin, Increased circulating antibody level ORPHA:90000
Lassa Fever
Oliguria, Sepsis, Shock, Conjunctivitis, Increased circulating IgM level ORPHA:99824
Complement Component C1S Deficiency
Hashimoto thyroiditis, Abnormality of complement system, Hepatitis, Systemic lupus erythematosus OMIM:613783
Immunodeficiency 38 With Basal Ganglia Calcification
Recurrent mycobacterial infections, Recurrent viral infections, Severe viral infection, BCGitis OMIM:616126
Microcephaly, Congenital Cataract, And Psoriasiform Dermatitis
Failure to thrive, Psoriasiform dermatitis, Delayed puberty, Developmental cataract, Short statur... OMIM:616834
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Recurrent viral infections, Decreased specific anti-polysaccharide antibody level, Eczematoid der... OMIM:606367
Sodium-Dependent Multivitamin Transporter Deficiency
Decreased circulating IgG level OMIM:618973
Idiopathic Steroid-Resistant Nephrotic Syndrome
Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Acute kidney injury, Hypoa... ORPHA:567548
Lysinuric Protein Intolerance
Abnormality of humoral immunity, Increased LDL cholesterol concentration, Hyperglycinemia, Increa... ORPHA:470
Focal Segmental Glomerulosclerosis 10
Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Stage 5 chronic kidney dis... OMIM:256020
Kid Syndrome
Posterior blepharitis, Aplastic/hypoplastic lacrimal glands, Postnatal growth retardation, Psoria... ORPHA:477
Complement Factor B Deficiency
Pneumonia, Decreased circulating complement factor B concentration, Recurrent meningococcal disea... OMIM:615561
Papa Syndrome
Limitation of joint mobility, Crohn's disease, Increased inflammatory response, Increased circula... ORPHA:69126
Immunodeficiency 7
Hypereosinophilia, Splenomegaly, Autoimmune hemolytic anemia, Patchy alopecia, Neutropenia, Hepat... OMIM:615387
Immunodeficiency, Common Variable, 8, With Autoimmunity
Inflammation of the large intestine, Recurrent otitis media, Erythema nodosum, Autoimmune thrombo... OMIM:614700
Combined Cellular And Humoral Immune Defects With Granulomas
Decreased circulating IgG level, Recurrent respiratory infections OMIM:233650
Adult Acute Respiratory Distress Syndrome
Pneumonia, Vasculitis, Abnormal circulating interleukin concentration, Sepsis, Hypotension, Abnor... ORPHA:70578
Immunodeficiency, Common Variable, 12, With Autoimmunity
Atrophic gastritis, Recurrent pneumonia, Recurrent skin infections, Autoimmune hemolytic anemia, ... OMIM:616576
Bacterial Toxic-Shock Syndrome
Glomerulonephritis, Meningitis, Tachycardia, Recurrent skin infections, Shock, Osteomyelitis, Ele... ORPHA:36234
Autoinflammation, Antibody Deficiency, And Immune Dysregulation
Bronchiolitis, Decreased circulating IgA level, Interstitial pneumonitis, Enterocolitis, Recurren... OMIM:614878
Agammaglobulinemia 7, Autosomal Recessive
Recurrent infections, Panhypogammaglobulinemia, Agammaglobulinemia, Erythema nodosum, Recurrent r... OMIM:615214
Igg4-Related Retroperitoneal Fibrosis
Rheumatoid arthritis, Systemic lupus erythematosus, Psoriasiform dermatitis, Hematuria, Deep derm... ORPHA:49041
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia
Decreased testicular size, Azoospermia, Cryptorchidism, Hypogonadotropic hypogonadism, Primary am... OMIM:614837
Vernal Keratoconjunctivitis
Keratoconus, Abnormal cornea morphology, Allergic conjunctivitis, Corneal neovascularization, Con... ORPHA:70476
Thrombocytopenia 1
Epistaxis, Eczematoid dermatitis, Increased circulating IgE level, Increased circulating IgA leve... OMIM:313900
Mucopolysaccharidosis-Plus Syndrome
Focal segmental glomerulosclerosis, Bone marrow hypocellularity, Nephritis, Recurrent pneumonia, ... OMIM:617303
Multiple Myeloma
Nephropathy, Osteopenia, Nephrotic syndrome, Acute kidney injury, Pathologic fracture, Elevated c... ORPHA:29073
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Pneumonia, Recurrent pneumonia, Inflammatory abnormality of the skin, Recurrent viral infections,... OMIM:102700
Oocyte/Zygote/Embryo Maturation Arrest 9
Abnormality of the menstrual cycle, Oocyte arrest at metaphase I, Female infertility OMIM:619011
Combined Immunodeficiency Due To Zap70 Deficiency
Pneumonia, Recurrent mycobacterial infections, Decreased lymphocyte proliferation in response to ... ORPHA:911
Premature Ovarian Failure 18
Irregular menstruation, Elevated circulating luteinizing hormone level, Hypoplasia of the ovary, ... OMIM:619203
Immunodeficiency 32B
Impaired oxidative burst, Splenomegaly, Eosinophilia, Anemia, Monocytopenia, Thrombocytopenia, Ne... OMIM:226990
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia
Recurrent pneumonia, Eczematoid dermatitis, Autoimmunity, Hyperhomocystinemia, Septic arthritis, ... OMIM:617780
Ichthyosis, Congenital, Autosomal Recessive 11
Sparse eyebrow, Sparse body hair, Curly eyelashes, Curly hair, Sparse eyelashes, Pili torti, Corn... OMIM:602400
Oligoarticular Juvenile Idiopathic Arthritis
Abnormal circulating interleukin concentration, Rheumatoid arthritis, Abnormality of the ankle, I... ORPHA:85410
Immunodeficiency 105
Decreased circulating IgG level, Decreased circulating IgA level, Skin rash, Decreased circulatin... OMIM:619924
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2
Aplasia/hypoplasia of the uterus, Azoospermia, Low posterior hairline, Abnormal rib morphology, S... ORPHA:2578
Inflammatory Skin And Bowel Disease, Neonatal, 2
Recurrent pneumonia, Increased circulating IgE level, Recurrent bronchiolitis, Pustule, Hypertension OMIM:616069
Xeroderma Pigmentosum
Cataract, Alopecia, Ankyloblepharon, Keratitis, Failure to thrive, Hypogonadism, Decreased testic... ORPHA:910
Agammaglobulinemia, X-Linked
Enteroviral dermatomyositis syndrome, Recurrent otitis media, Prostatitis, Recurrent lower respir... OMIM:300755
Amed Syndrome, Digenic
Failure to thrive, Telecanthus, Long thumb, Short stature, Hypoplasia of the uterus OMIM:619151
Premature Ovarian Failure 2B
Premature ovarian insufficiency, Delayed puberty, Female infertility, Primary amenorrhea OMIM:300604
Oocyte/Zygote/Embryo Maturation Arrest 2
Oocyte arrest at metaphase I, Female infertility OMIM:616780
Oocyte/Zygote/Embryo Maturation Arrest 4
Oocyte arrest at metaphase I, Female infertility OMIM:617743
Agammaglobulinemia 1, Autosomal Recessive
Recurrent pneumonia, Recurrent enteroviral infections, Panhypogammaglobulinemia, Recurrent otitis... OMIM:601495
Oocyte/Zygote/Embryo Maturation Arrest 14
Female infertility, Oocyte maturation arrest OMIM:620276
Oocyte/Zygote/Embryo Maturation Arrest 5
Female infertility, Lack of oocyte pronucleus formation OMIM:617996
Immunodeficiency 30
Recurrent mycobacterial infections, Recurrent infections OMIM:614891
Kimura Disease
Eosinophilia ORPHA:482
Eosinophilopenia
Decreased eosinophil count OMIM:131430
Ficolin 3 Deficiency
Recurrent lower respiratory tract infections, Recurrent Staphylococcus aureus infections, Necroti... OMIM:613860
Immunodeficiency 92
Pneumonia, Decreased circulating IgG level, Partial absence of specific antibody response to teta... OMIM:619652
Immunodeficiency 91 And Hyperinflammation
Recurrent pneumonia, Nephrotic syndrome, Severe viral infection, Pulmonary hemorrhage, Renal insu... OMIM:619644
Nephrotic Syndrome, Type 6
Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Hypoalbuminemia, Stage 5 c... OMIM:614196
Nephrotic Syndrome, Type 16
Proteinuria, Minimal change glomerulonephritis, Nephrotic syndrome, Hematuria OMIM:617783
Mosaic Trisomy 14
Narrow chest, Failure to thrive, Camptodactyly of finger, Cryptorchidism, Ptosis, Blepharophimosi... ORPHA:1703
Immunodeficiency 15B
Decreased lymphocyte proliferation in response to mitogen, Agammaglobulinemia, Recurrent infectio... OMIM:615592
Oocyte/Zygote/Embryo Maturation Arrest 10
Female infertility OMIM:619176
Idiopathic Pulmonary Hemosiderosis
Antineutrophil antibody positivity, Diffuse alveolar hemorrhage, Antinuclear antibody positivity,... ORPHA:99931
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency
Elevated circulating luteinizing hormone level, Sparse body hair, Decreased fertility, Cryptorchi... ORPHA:90796
Pemphigus Vulgaris, Familial
Autoimmunity, Autoimmune antibody positivity OMIM:169610
Acromesomelic Dysplasia 3
Aplasia of the proximal phalanx of the 2nd finger, Widened proximal tibial metaphyses, Elevated c... OMIM:609441
Immunodeficiency 110 With Lymphoproliferation
Recurrent pneumonia, Recurrent viral infections, Recurrent upper respiratory tract infections, Ch... OMIM:614868
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1
Pneumonia, Decreased circulating IgA level, Sinusitis, Increased circulating IgM level, Bronchiec... OMIM:242860
X-Linked Immunoneurologic Disorder
Recurrent respiratory infections, Functional abnormality of the bladder, Decreased circulating Ig... ORPHA:2571
Oocyte/Zygote/Embryo Maturation Arrest 21
Female infertility OMIM:620610
Oocyte/Zygote/Embryo Maturation Arrest 13
Female infertility OMIM:620154
Hyperprolactinemia
Menorrhagia, Oligomenorrhea, Female infertility, Increased circulating prolactin concentration OMIM:615555
Trichothiodystrophy 3, Photosensitive
Recurrent infections, Increased circulating IgA level OMIM:616395
Familial Hemophagocytic Lymphohistiocytosis
Hypoalbuminemia, Increased circulating interleukin 6 concentration, Abnormality of tumor necrosis... ORPHA:540
Hemosiderosis, Pulmonary, With Deficiency Of Gamma-A Globulin
Decreased circulating IgA level OMIM:235500
Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level OMIM:300861
Cinca Syndrome
Hepatosplenomegaly, Leukocytosis, Eosinophilia, Papilledema, Anemia OMIM:607115
Oocyte/Zygote/Embryo Maturation Arrest 12
Female infertility OMIM:619697
Immunodeficiency 97 With Autoinflammation
Decreased circulating IgG level, Eczematoid dermatitis, Recurrent urinary tract infections, Recur... OMIM:619802
Eec Syndrome
Toe syndactyly, Finger syndactyly, Aplasia/Hypoplasia of the thumb, Inflammatory abnormality of t... ORPHA:1896
Lymphoproliferative Syndrome 1
Decreased circulating IgG level, Increased circulating ferritin concentration, Decreased circulat... OMIM:613011
Immunodeficiency 37
Colitis, Recurrent infections, Decreased circulating antibody level, Infectious encephalitis OMIM:616098
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Recurrent infections, Enlarged kidney, Increased circulating antibody level OMIM:615285
Immunoglobulin Kappa Light Chain Deficiency
Recurrent infections, Absent circulating immunoglobulin kappa chain, Recurrent respiratory infect... OMIM:614102
Autoimmune Disease
Autoimmunity, Autoimmune antibody positivity OMIM:109100
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1
Toe syndactyly, Cryptorchidism, Sparse eyelashes, Absence of Stensen duct, Blepharophimosis, Dacr... OMIM:129900
Dyskeratosis Congenita
Cataract, Alopecia, Coarse metaphyseal trabecularization, Periodontitis, White hair, Premature gr... ORPHA:1775
Diffuse Alveolar Hemorrhage
Antineutrophil antibody positivity, Elevated circulating creatinine concentration, Autoimmunity, ... ORPHA:90060
Myelolymphatic Insufficiency
Recurrent bacterial infections, Recurrent viral infections OMIM:310350
Systemic Lupus Erythematosus 17
Hypertensive crisis, Myelitis, Anti-aquaporin 4 antibody positivity, Systemic lupus erythematosus... OMIM:301080
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3
Toe syndactyly, Cryptorchidism, Sparse eyelashes, Absence of Stensen duct, Blepharophimosis, Dacr... OMIM:604292
Flotch Syndrome
Sparse eyelashes, Abnormal eyelid morphology, Inflammatory abnormality of the eye, Abnormal eyela... ORPHA:2045
Eosinophil Peroxidase Deficiency
Eosinophil nuclear hypersegmentation OMIM:261500
Sneddon Syndrome
Ischemic stroke, Antiphospholipid antibody positivity, Cerebral hemorrhage, Decreased circulating... OMIM:182410
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency
Atopic dermatitis, Decreased specific anti-polysaccharide antibody level, Decreased specific anti... ORPHA:70593
Complete Androgen Insensitivity Syndrome
Acne, Elevated circulating luteinizing hormone level, Sparse pubic hair, Abnormal morphology of f... ORPHA:99429
Peeling Skin Syndrome 1
Eosinophilia, Nail dystrophy, Brittle hair OMIM:270300
Subacute Inflammatory Demyelinating Polyneuropathy
Limited elbow flexion, Limited hip movement, Limitation of movement at ankles, Severe infection, ... ORPHA:206594
Intellectual Developmental Disorder With Speech Delay, Dysmorphic Facies, And T-Cell Abnormalities
Abnormally low T cell receptor excision circle level, Thin eyebrow, Eosinophilia OMIM:618092
Lymphoproliferative Syndrome, X-Linked, 2
Inflammation of the large intestine, Folliculitis, Hepatitis, Recurrent respiratory infections, I... OMIM:300635
Hypocomplementemic Urticarial Vasculitis
Joint dislocation, Reduced circulating complement concentration, Autoimmunity, Episcleritis, Skin... ORPHA:36412
Roifman Syndrome
Prominent eyelashes, Splenomegaly, Ventricular septal defect, Noncompaction cardiomyopathy, Eosin... OMIM:616651
Igg4-Related Dacryoadenitis And Sialadenitis
Increased circulating IgG4 level, Autoimmunity, Cytoplasmic antineutrophil antibody positivity, M... ORPHA:79078
Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency
Recurrent bacterial infections, Recurrent streptococcus pneumoniae infections, Recurrent staphylo... ORPHA:70592
Premature Ovarian Failure 19
Irregular menstruation, Premature ovarian insufficiency, Female infertility, Secondary amenorrhea OMIM:619245
Pauci-Immune Glomerulonephritis
Acute kidney injury, Arteritis, Elevated circulating creatinine concentration, Decreased glomerul... ORPHA:93126
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome
Abnormal hair morphology, Cryptorchidism, Abnormal nasolacrimal system morphology, Scleritis, Abs... ORPHA:2273
Brucellosis
Arteritis, Sacroiliac arthritis, Knee osteoarthritis, Glomerulonephritis, Elevated circulating C-... ORPHA:1304
Immune Dysregulation, Autoimmunity, And Autoinflammation
Abnormal circulating C-reactive protein concentration, Epistaxis, Increased circulating interleuk... OMIM:620514
Acrodermatitis Enteropathica
Alopecia, Failure to thrive, Abnormal eyebrow morphology, Pustule, Weight loss, Abnormal eyelid m... ORPHA:37
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus
Elevated circulating luteinizing hormone level, Supernumerary lacrimal punctum, Lacrimal gland hy... ORPHA:572333
Psoriasis-Related Juvenile Idiopathic Arthritis
Uveitis, Limitation of joint mobility, Abnormality of tumor necrosis factor secretion, Polyarticu... ORPHA:85436
Acute Erythroid Leukemia
Bone marrow hypocellularity, Monoclonal immunoglobulin M proteinemia ORPHA:318
Granulomatous disease with defect in neutrophil chemotaxis
Recurrent staphylococcal infections, Impaired neutrophil killing of staphylococci OMIM:233670
Nephrotic Syndrome, Type 11
Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Hypoalbuminemia, Dilated c... OMIM:616730
Testicular Regression Syndrome
Abnormal morphology of female internal genitalia, Decreased testicular size, Decreased fertility,... ORPHA:983
Mu-Heavy Chain Disease
Nephropathy, Bence Jones Proteinuria, Increased circulating antibody level, Osteoporosis, Osteolysis ORPHA:100024
Estrogen Resistance
Breast aplasia, Polycystic ovaries, Delayed puberty, Primary amenorrhea, Hypoplasia of the uterus... OMIM:615363
Primary Sjögren Syndrome
Arteritis, Chronic hepatitis, Increased circulating antibody level, Lymphocytic interstitial pneu... ORPHA:289390
Systemic Sclerosis
Chronic kidney disease, Intestinal bleeding, Telangiectasia, Glomerulonephritis, Abnormality of t... ORPHA:90291
Palmoplantar Keratoderma, Epidermolytic, 1
Increased circulating IgE level OMIM:144200
Prolidase Deficiency
Recurrent pneumonia, Eczematoid dermatitis, Systemic lupus erythematosus, Increased circulating a... OMIM:170100
Poikiloderma With Neutropenia
Sparse eyebrow, Recurrent pneumonia, Sparse lateral eyebrow, Recurrent otitis media, Nail dystrop... OMIM:604173
Hydatidiform Mole, Recurrent, 3
Female infertility OMIM:618431
Hydatidiform Mole, Recurrent, 4
Female infertility OMIM:618432
Atopic Keratoconjunctivitis
Keratitis, Allergic conjunctivitis, Corneal scarring, Corneal neovascularization, Loss of eyelash... ORPHA:163934
Wells Syndrome
Eosinophilia ORPHA:901
Proteasome-Associated Autoinflammatory Syndrome 1
Increased circulating interleukin 8 concentration, Recurrent otitis media, Increased circulating ... OMIM:256040
Cherubism
Marcus Gunn pupil, Optic neuropathy, Macular scar OMIM:118400
Immunodeficiency 11A
Pneumocystis jirovecii pneumonia, Agammaglobulinemia, Reduced antigen-specific T cell proliferati... OMIM:615206
Autoimmune Disease, Multisystem, Infantile-Onset, 1
Recurrent upper respiratory tract infections, Eczematoid dermatitis, Polyarticular arthritis, Dec... OMIM:615952
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Urinary glycosaminoglycan excretion, Heavy proteinuria, Mitral regurgitation, Nephrotic syndrome,... ORPHA:505248
Mayer-Rokitansky-Kuster-Hauser Syndrome
Hematocolpos, Sparse lateral eyebrow, Downslanted palpebral fissures, Abnormal female external ge... OMIM:277000
Oocyte/Zygote/Embryo Maturation Arrest 8
Abnormality of the menstrual cycle, Female infertility OMIM:619009
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome
Aplasia/Hypoplasia of fingers, Pectus carinatum, Toe syndactyly, Abnormal epiphysis morphology, A... ORPHA:3082
X-Linked Agammaglobulinemia
Recurrent pneumonia, Sepsis, Hepatitis, Osteomyelitis, Autoimmunity, Skin rash, Hypocalcemia, Aga... ORPHA:47
Microcephalic Primordial Dwarfism, Toriello Type
Decreased circulating total IgM, Decreased circulating IgG level, Recurrent respiratory infections ORPHA:2643
Autosomal Dominant Spondylocostal Dysostosis
Severe short stature, Abnormal rib morphology, Abnormal morphology of female internal genitalia, ... ORPHA:1797
Interstitial Cystitis
Functional abnormality of the bladder, Abnormality of the urethra, Urinary bladder inflammation, ... ORPHA:37202
Renal Cysts And Diabetes Syndrome
Pancreatic hypoplasia, Gout, Pancreatic atrophy, Atretic vas deferens, Epididymal cyst, Reduced s... OMIM:137920
Immunodeficiency 9
Decreased circulating IgG level, BCGitis, Decreased circulating IgA level, Recurrent aphthous sto... OMIM:612782
Renpenning Syndrome
Severe short stature, Iris coloboma, Alopecia, Abnormal hairshaft morphology, Cataract, Growth de... ORPHA:3242
Immunodeficiency 46
Sepsis, Recurrent sinopulmonary infections, Meningitis, Conjunctivitis, Decreased circulating ant... OMIM:616740
Autoinflammatory Disease, Systemic, X-Linked
Decreased circulating IgG level, Panuveitis, Osteomyelitis, Panniculitis, Complete or near-comple... OMIM:301081
46,Xy Sex Reversal 11
Elevated circulating luteinizing hormone level, Vanishing testis, Primary amenorrhea, Aplasia of ... OMIM:273250
Ectodermal Dysplasia 15, Hypohidrotic/Hair Type
Eczematoid dermatitis, Sparse body hair, Sparse eyelashes, Slow-growing hair, Sparse hair, Blepha... OMIM:618535
46,Xy Sex Reversal 3
Clitoral hypertrophy, Elevated circulating luteinizing hormone level, Gonadal dysgenesis, Ambiguo... OMIM:612965
Interstitial Lung Disease 2
Pulmonary arterial hypertension, Increased circulating antibody level OMIM:178500
Roifman Syndrome
Prominent eyelashes, Hepatosplenomegaly, Noncompaction cardiomyopathy, Eosinophilia, Retinal dyst... ORPHA:353298
Immunodeficiency 116
Recurrent bacterial infections, Recurrent respiratory infections, Recurrent viral infections, Bro... OMIM:608957
Ifap Syndrome 2
Cataract, Atrichia, Posterior blepharitis, Keratitis, Nail dystrophy, Angular cheilitis, Keratoco... OMIM:619016
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly
Narrow chest, Thoracic dysplasia, Obesity, Bell-shaped thorax, Cryptorchidism, Horizontal ribs, P... OMIM:615633
O'Sullivan-Mcleod Syndrome
Eosinophilia, Tremor ORPHA:99965
Chromosome 16Q22 Deletion Syndrome
Highly arched eyebrow, Narrow chest, Short palpebral fissure, Growth delay, Broad hallux, Failure... OMIM:614541
Pyoderma Gangrenosum
Inflammation of the large intestine, Rheumatoid arthritis, Increased circulating antibody level, ... ORPHA:48104
Rift Valley Fever
Hepatitis, Severe viral infection, Skin rash, Infectious encephalitis, Hematuria, Hematemesis, Me... ORPHA:319251
Immunodeficiency 98 With Autoinflammation, X-Linked
Decreased circulating IgG level, Bone marrow hypocellularity, Antineutrophil antibody positivity,... OMIM:301078
Down Syndrome
Keratoconus, Cataract, Sandal gap, Umbilical hernia, Obesity, Decreased fertility, Upslanted palp... ORPHA:870
Aromatase Deficiency
Delayed epiphyseal ossification, Female infertility, Male infertility, Ambiguous genitalia, femal... ORPHA:91
Esophagitis, Eosinophilic, 2
Eosinophilia OMIM:613412
Sweet Syndrome
Abnormal circulating interleukin concentration, Inflammation of the large intestine, Dilated card... ORPHA:3243
Esophagitis, Eosinophilic, 1
Eosinophilia OMIM:610247
Immunodeficiency 28
Recurrent mycobacterial infections OMIM:614889
Autoinflammatory-Pancytopenia Syndrome
Chilblains, Intestinal inflammation, Arthropathy, Proteinuria, Severe Epstein Barr virus infectio... OMIM:619858
Neutrophil Actin Dysfunction
Recurrent bacterial infections OMIM:257150
Estrogen Resistance Syndrome
Delayed epiphyseal ossification, Breast hypoplasia, Enlarged polycystic ovaries, Primary amenorrh... ORPHA:785
Omenn Syndrome
Alopecia, Abnormal lymphocyte morphology, Leukocytosis, Splenomegaly, Anemia, Eosinophilia, Aplas... ORPHA:39041
Intellectual Developmental Disorder With Microcephaly And With Or Without Ocular Malformations Or Hypogonadotropic Hypogonadism
Short distal phalanx of finger, Short palpebral fissure, Highly arched eyebrow, Clinodactyly, Hyp... OMIM:615866
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Hepatitis, Systemic lupus erythematosus, Recurrent otitis media, Autoimmunity, Autoimmune hemolyt... ORPHA:444463
Microcephaly-Glomerulonephritis-Marfanoid Habitus Syndrome
Chronic kidney disease, Glomerulonephritis, Joint hypermobility ORPHA:2172
Autosomal Agammaglobulinemia
Bronchiectasis, Sepsis, Hepatitis, Recurrent respiratory infections, Osteomyelitis, Skin rash, Ag... ORPHA:33110
10Q22.3Q23.3 Microduplication Syndrome
Abnormal clavicle morphology, Upslanted palpebral fissure, Ambiguous genitalia, Abnormal rib morp... ORPHA:276422
Hemorrhagic Fever-Renal Syndrome
Chronic kidney disease, Hyperphosphatemia, Hematuria, Glomerulonephritis, Tubulointerstitial neph... ORPHA:340
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency
Decreased circulating IgG level, Decreased lymphocyte proliferation in response to mitogen, Recur... ORPHA:35078
Cornelia De Lange Syndrome 5
Highly arched eyebrow, Small hand, Toe syndactyly, Hypogonadism, Decreased testicular size, Long ... OMIM:300882
Inclusion Body Myositis
Autoimmunity, Elevated circulating creatine kinase concentration ORPHA:611
Tn Polyagglutination Syndrome
Autoimmunity OMIM:300622
Complement Component 5 Deficiency
Generalized seborrheic dermatitis, Recurrent Neisserial infections, Recurrent meningococcal disea... OMIM:609536
Immunodeficiency 93 And Hypertrophic Cardiomyopathy
Decreased circulating IgG level, Hypertrophic cardiomyopathy, Tricuspid regurgitation, Crohn's di... OMIM:619705
Coccidioidomycosis
Morbilliform rash, Erythema nodosum, Abnormality of the kidney, Increased circulating IgM level, ... ORPHA:228123
Inflammatory Pseudotumor Of The Liver
Autoimmune antibody positivity, Increased hepatitis B virus antibody level ORPHA:90003
Myeloma, Multiple
Paraproteinemia OMIM:254500
Genetic Steroid-Resistant Nephrotic Syndrome
Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Chronic kidney disease, Hy... ORPHA:656
Oocyte/Zygote/Embryo Maturation Arrest 11
Female infertility OMIM:619643
Oocyte/Zygote/Embryo Maturation Arrest 7
Female infertility OMIM:618550
Oocyte/Zygote/Embryo Maturation Arrest 6
Female infertility OMIM:618353
Progesterone Resistance
Female infertility OMIM:264080
Oocyte/Zygote/Embryo Maturation Arrest 18
Female infertility OMIM:620332
Oocyte/Zygote/Embryo Maturation Arrest 19
Female infertility OMIM:620333
Oocyte/Zygote/Embryo Maturation Arrest 15
Female infertility OMIM:616814
Oocyte/Zygote/Embryo Maturation Arrest 1
Female infertility OMIM:615774
Oocyte/Zygote/Embryo Maturation Arrest 3
Female infertility OMIM:617712
Immunodeficiency 31A
BCGitis, Recurrent viral infections, Recurrent mycobacterium avium complex infections, Herpes sim... OMIM:614892
Membranoproliferative Glomerulonephritis, X-Linked
Cardiac shunt, Membranoproliferative glomerulonephritis OMIM:305800
Omenn Syndrome
Severe B lymphocytopenia, Alopecia, Splenomegaly, Hypoplasia of the thymus, Eosinophilia, Anemia,... OMIM:603554
Immunoneurologic Disorder, X-Linked
Functional abnormality of the bladder, Decreased circulating IgG2 level OMIM:300076
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level OMIM:611926
Galloway-Mowat Syndrome 7
Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Dilated cardiomyopathy, Ig... OMIM:618348
Immunodeficiency 31B
Recurrent mycobacterial infections, Recurrent viral infections, Herpes simplex encephalitis OMIM:613796
Tularemia
Pneumonia, Brain abscess, Cutaneous abscess, Otitis media, Skin rash, Increased circulating antib... ORPHA:3392
Systemic Lupus Erythematosus
Discoid lupus rash, Cheilitis, Antineutrophil antibody positivity, Pyuria, Malar rash, Anti-Sm an... ORPHA:536
Cystic Echinococcosis
Unusual infection, Invasive parasitic infection, Hyperbilirubinemia, Increased circulating antibo... ORPHA:400
46,Xy Sex Reversal 4
Gonadal dysgenesis, Recurrent otitis media, Distal symphalangism, Upslanted palpebral fissure, Hy... OMIM:154230
Olmsted Syndrome, X-Linked
Alopecia totalis, Posterior blepharitis, Blepharitis OMIM:300918
Myoectodermal Gonadal Dysgenesis Syndrome
Bifid distal phalanx of toe, Elevated circulating luteinizing hormone level, Cutaneous finger syn... OMIM:618419
Tempi Syndrome
Telangiectasia, Increased circulating IgG level, Intracranial hemorrhage, Abnormality of the kidney ORPHA:284227
Hypogonadism, Male, With Impaired Intellectual Development And Skeletal Anomalies
Male hypogonadism, Hypergonadotropic hypogonadism, Superior rib anomalies OMIM:307500
Actinic Prurigo
Pyoderma, Cheilitis, Glomerulonephritis OMIM:174770
Inflammatory Skin And Bowel Disease, Neonatal, 1
Pustule, Erythroderma, Blepharitis, Failure to thrive OMIM:614328
Immunodeficiency 114, Folate-Responsive
Decreased circulating IgG level, Atopic dermatitis, Increased circulating ferritin concentration,... OMIM:620603
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome
Aplasia/Hypoplasia of the radius, Finger syndactyly, Abnormal scapula morphology, Abnormal morpho... ORPHA:2141
46,Xy Sex Reversal 7
Sex reversal, Hypoplasia of the fallopian tube, Streak ovary, Abnormal epididymis morphology, Gon... OMIM:233420
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Cataract, Narrow chest, Rhizomelia, Abnormal epiphysis morphology, Abnormal clavicle morphology, ... ORPHA:93267
Eosinophilic Fasciitis
Eosinophilia, Abnormal eosinophil morphology ORPHA:3165
Galloway-Mowat Syndrome 2, X-Linked
Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Stage 5 chronic kidney dis... OMIM:301006
Antithrombin Iii Deficiency
Pulmonary embolism, Arterial occlusion OMIM:613118
Meckel Syndrome 12
Intrauterine growth retardation, Antecubital pterygium, Vaginal atresia, Hypoplasia of the uterus... OMIM:616258
Xq28 (MECP2) duplication
Decreased circulating IgA level, Functional abnormality of the bladder, Recurrent respiratory inf... DECIPHER:45
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance
Chronic kidney disease, Minimal change glomerulonephritis, Focal segmental glomerulosclerosis, Hy... ORPHA:567546
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy
Increased circulating IgE level, Pancolitis, Decreased T cell activation, Eosinophilic infiltrati... OMIM:618213
Autosomal Dominant Severe Congenital Neutropenia
Aplastic anemia, Lymphopenia, Eosinophilia, Acute myeloid leukemia, Neutropenia, Monocytosis, Leu... ORPHA:486
Q Fever
Increased circulating antibody level, Lupus anticoagulant, Antiphospholipid antibody positivity, ... ORPHA:781
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Hypoalbuminemia, Pulmonary embolism, Budd-Chiari syndrome, Recurrent lower respiratory tract infe... OMIM:226300
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias
Absent specific antibody response, Decreased circulating antibody level, Recurrent sinopulmonary ... OMIM:619846
Juberg-Hayward Syndrome
Severe short stature, Highly arched eyebrow, Toe syndactyly, Short thumb, Abnormal eyebrow morpho... ORPHA:2319
Yellow Fever
Acute kidney injury, Opportunistic infection, Anuria, Shock, Elevated circulating creatinine conc... ORPHA:99829
Partial Androgen Insensitivity Syndrome
Clitoral hypertrophy, Elevated circulating luteinizing hormone level, Male sexual dysfunction, Bi... ORPHA:90797
Drug-Induced Lupus Erythematosus
Prolonged QTc interval, Malar rash, Elevated circulating creatine kinase concentration, Lupus ant... ORPHA:231111
Immunodeficiency 49
Abnormally low T cell receptor excision circle level, Lymphopenia, Hirsutism, Eosinophilia, Impai... OMIM:617237
Netherton Syndrome
Allergic rhinitis, Decreased circulating IgG level, Sepsis, Eczematoid dermatitis, Increased circ... OMIM:256500
Neurogenic Thoracic Outlet Syndrome
Abnormal rib morphology ORPHA:100073
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies
Osteopenia, Decreased lymphocyte proliferation in response to mitogen, Recurrent viral infections... ORPHA:221139
Maturity-Onset Diabetes Of The Young, Type 10
Hyperglycemia, Diabetes mellitus, Maturity-onset diabetes of the young, Diabetic ketoacidosis OMIM:613370
Dystrophic Epidermolysis Bullosa Pruriginosa
Increased circulating IgE level, Abnormality of the wrist, Abnormality of the elbow ORPHA:89843
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome
Cataract, Disproportionate short-limb short stature, Intrauterine growth retardation, Cryptorchid... ORPHA:2772
Igg4-Related Thyroid Disease
Anti-thyroglobulin antibody positivity, Increased circulating IgG4 level, Autoimmunity, Hypocalce... ORPHA:64744
Adult-Onset Nemaline Myopathy
Paraproteinemia, Flexion contracture, Dilated cardiomyopathy, Mildly elevated creatine kinase ORPHA:171442
Igg4-Related Submandibular Gland Disease
Increased circulating IgE level, Reduced circulating complement concentration, Increased circulat... ORPHA:449432
Systemic Mastocytosis With Associated Hematologic Neoplasm
Normocytic anemia, Chronic myelomonocytic leukemia, Leukocytosis, Splenomegaly, Chronic lymphatic... ORPHA:98849
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 1
Eosinophilia OMIM:253600
Lichen Planus Pemphigoides
Conjunctivitis, Blepharitis ORPHA:254478
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome
Recurrent aspiration pneumonia, Small hand, Proportionate shortening of all digits, Narrow chest,... ORPHA:280633
Femoral-Facial Syndrome
Aplasia/Hypoplasia of the tibia, Abnormal pelvic girdle bone morphology, Long penis, Abnormal rib... ORPHA:1988
Rasmussen Subacute Encephalitis
Anti-dsDNA antibody positivity, Autoimmunity, Antinuclear antibody positivity, Decreased circulat... ORPHA:1929
Netherton Syndrome
Aminoaciduria, Eczematoid dermatitis, Recurrent respiratory infections, Increased circulating IgE... ORPHA:634
46,Xx Sex Reversal 2
Small scrotum, Elevated circulating luteinizing hormone level, Bifid scrotum, Non-obstructive azo... OMIM:278850
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome
Decreased circulating IgA level, Proteinuria, Mucopolysacchariduria, Generalized bone demineraliz... OMIM:215250
Hypo- And Hypermelanotic Cutaneous Macules-Retarded Growth-Intellectual Disability Syndrome
Short stature, Abnormal rib morphology ORPHA:2435
Three M Syndrome 1
Short 5th finger, Small for gestational age, Joint dislocation, Slender long bone, Growth delay, ... OMIM:273750
Felty Syndrome
Recurrent infections, Bone marrow hypocellularity, Recurrent pneumonia, Sepsis, Limitation of joi... ORPHA:47612
Maturity-Onset Diabetes Of The Young, Type 3
Hyperglycemia, Type II diabetes mellitus, Maturity-onset diabetes of the young OMIM:600496
Immunodeficiency 56
Recurrent pneumonia, Pneumocystis jirovecii pneumonia, Recurrent respiratory infections, Panhypog... OMIM:615207
Becker Nevus Syndrome
Pectus carinatum, Supernumerary nipple, Abnormal tibia morphology, Abnormal scrotum morphology, S... ORPHA:64755
Alport Syndrome 3A, Autosomal Dominant
Thickened glomerular basement membrane, Nephritis, Glomerular basement membrane lamellation, Neph... OMIM:104200
Dyskeratosis Congenita, X-Linked
Cataract, Alopecia, Premature graying of hair, Pterygium, Decreased testicular size, Intrauterine... OMIM:305000
Acquired Partial Lipodystrophy
Autoimmunity, Proteinuria, Glomerulopathy, Decreased circulating complement C3 concentration, Mic... ORPHA:79087
Alopecia Areata 1
Autoimmunity OMIM:104000
Immunodeficiency 84
Recurrent bacterial infections, Perianal abscess, Persistent EBV viremia OMIM:619437
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease
Absent vas deferens, Aplasia/Hypoplasia of the pancreas, Arthritis, Papillary cystadenoma of the ... ORPHA:93111
Hypogonadotropic Hypogonadism 13 With Or Without Anosmia
Hypogonadotropic hypogonadism, Hypoplasia of the uterus OMIM:614842
Aapoaiv Amyloidosis
Chronic kidney disease, Atrial fibrillation, Renal amyloidosis, Atrial flutter, Paraproteinemia, ... ORPHA:439232
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Abnormally low T cell receptor excision circle level, Lymphopenia, Alopecia of scalp, Splenomegal... OMIM:602450
Cardiomyopathy-Cataract-Hip Spine Disease Syndrome
Pulmonary embolism, Congestive heart failure, Hypertrophic cardiomyopathy, Joint stiffness, Arrhy... ORPHA:1345
Axial Spondylometaphyseal Dysplasia
Abnormal ilium morphology, Hypoplastic iliac wing, Abnormal metacarpal morphology, Disproportiona... ORPHA:168549
Idiopathic Chronic Eosinophilic Pneumonia
Increased circulating IgE level, Atopic dermatitis, Autoimmunity, Elevated circulating C-reactive... ORPHA:2902
Ovarian Dysgenesis 3
Elevated circulating luteinizing hormone level, Female infertility, Aplasia of the ovary, Elevate... OMIM:614324
Secondary Intestinal Lymphangiectasia
Hypoalbuminemia, Intestinal bleeding, Right ventricular failure, Decreased circulating IgG1 level... ORPHA:90363
Ciliary Dyskinesia, Primary, 29
Recurrent respiratory infections, Decreased circulating antibody level, Bronchiectasis OMIM:615872
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Elevated circulating luteinizing hormone level, Decreased fertility, Ovarian cyst, Primary amenor... ORPHA:90793
Crimean-Congo Hemorrhagic Fever
Morbilliform rash, Hematuria, Erythema nodosum, Tachycardia, Epididymitis, Diffuse alveolar hemor... ORPHA:99827
Riddle Syndrome
Decreased circulating IgG level OMIM:611943
Silver-Russell Syndrome 3
Small hand, Elbow contracture, Postnatal growth retardation, Clinodactyly of the 5th finger, Decr... OMIM:616489
Silver-Russell Syndrome Due To 7P11.2P13 Microduplication
High anterior hairline, Prominent fingertip pads, Fine hair, Postnatal growth retardation, Long e... ORPHA:231137
Thrombophilia Due To Thrombomodulin Defect
Pulmonary embolism OMIM:614486
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Decreased circulating IgG level, Recurrent pneumonia, Sepsis, Lymphadenitis, Decreased lymphocyte... OMIM:618986
Encephalitis Lethargica
Recurrent viral infections, Stiff neck, Autoimmunity, Increased circulating antibody level, Brady... ORPHA:83600
Isolated Agammaglobulinemia
Pneumonia, Sepsis, Autoimmunity, Otitis media, Skin rash, Arthritis, Sinusitis, Inflammatory abno... ORPHA:229717
Riddle Syndrome
Pneumonia, Decreased circulating IgG level, Recurrent pneumonia, Recurrent viral infections, Enur... ORPHA:420741
Prune Belly Syndrome
Congenital hip dislocation, Failure to thrive, Abnormality of the uterus, Decreased testicular si... ORPHA:2970
Thrombophilia, X-Linked, Due To Factor Viii Defect
Pulmonary embolism OMIM:301071
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome
Joint hypermobility, Proteinuria, Glomerular sclerosis, Glomerulonephritis, Nephrotic syndrome, H... OMIM:619428
Autoinflammation, Immune Dysregulation, And Eosinophilia
Eosinophilia, Hepatosplenomegaly OMIM:618999
Immunodeficiency 57 With Autoinflammation
Inflammation of the large intestine, Partial absence of specific antibody response to tetanus vac... OMIM:618108
Specific Granule Deficiency 1
Recurrent pneumonia, Recurrent otitis media, Impaired neutrophil chemotaxis, Recurrent bacterial ... OMIM:245480
Overlap Myositis
Rheumatoid arthritis, Abnormal circulating lipid concentration, Systemic lupus erythematosus, Sub... ORPHA:206572
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly
Renal hypoplasia, Acetabular spurs, Elevated circulating creatinine concentration, Stage 5 chroni... OMIM:614376
46,Xx Ovotesticular Difference Of Sex Development
Small scrotum, Hypospadias, Bifid scrotum, Abnormal morphology of female internal genitalia, Abno... ORPHA:2138
Thrombophilia Due To Protein C Deficiency, Autosomal Dominant
Pulmonary embolism OMIM:176860
Proteasome-Associated Autoinflammatory Syndrome 3
Recurrent infections, Skin rash, Hypertriglyceridemia, Increased circulating antibody level, Myos... OMIM:617591
Renal Agenesis
Absent vas deferens, Aplasia/hypoplasia of the uterus ORPHA:411709
Popliteal Pterygium Syndrome
Small scrotum, Intercrural pterygium, Popliteal pterygium, Ankyloblepharon, Bifid scrotum, Cutane... OMIM:119500
Silver-Russell Syndrome Due To A Point Mutation
Short 5th finger, Bifid scrotum, Microphallus, Ectrodactyly, Small placenta, Postnatal growth ret... ORPHA:397590
Combined Immunodeficiency Due To Crac Channel Dysfunction
Pneumonia, Recurrent mycobacterial infections, Recurrent viral infections, Sepsis, Autoimmunity, ... ORPHA:169090
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome
Pectus carinatum, Sparse body hair, Downslanted palpebral fissures, Abnormal hip bone morphology,... ORPHA:3068
3M Syndrome
Thin ribs, Decreased fertility, Hypoplastic ischia, Hypospadias, Abnormality of the elbow, Horizo... ORPHA:2616
Lymphatic Filariasis
Urethral obstruction, Ankle swelling, Lymphadenitis, Opportunistic infection, Opportunistic bacte... ORPHA:2035
Diastrophic Dysplasia
Ulnar deviation of finger, Neonatal short-limb short stature, Abnormal epiphysis morphology, Abno... ORPHA:628
Hydatidiform Mole
Menometrorrhagia, Enlarged uterus ORPHA:99927
Cystic Fibrosis
Decreased body mass index, Absent vas deferens, Failure to thrive, Sinusitis, Bronchiectasis, Mal... ORPHA:586
Incontinentia Pigmenti
Optic atrophy, Alopecia, Coarse hair, Fine hair, Supernumerary nipple, Breast aplasia, Breast hyp... OMIM:308300
Epilepsy-Telangiectasia Syndrome
Conjunctival telangiectasia, Decreased circulating IgA level, Decreased circulating antibody level ORPHA:1951
Metatropic Dysplasia
Epiphyseal dysplasia, Caudal appendage, Genu valgum, Disproportionate short-trunk short stature, ... OMIM:156530
Idiopathic Acute Eosinophilic Pneumonia
Abnormal eosinophil morphology ORPHA:724
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Clinodactyly, Failure to thrive, Hypogonadism, Congenital bilateral ptosis, Small placenta, Postn... ORPHA:73272
Immunodeficiency 17
Eczematoid dermatitis, Chronic decreased circulating IgG2, Recurrent otitis media, Autoimmune hem... OMIM:615607
Mullerian Aplasia And Hyperandrogenism
Aplasia of the fallopian tube, Aplasia of the vagina, Hirsutism, Aplasia of the uterus, Primary a... OMIM:158330
Tick-Borne Encephalitis
Unusual CNS infection, Myelitis, Stiff neck, Abnormal circulating cytokine concentration, Meningi... ORPHA:297
Oocyte/Zygote/Embryo Maturation Arrest 17
Amenorrhea, Female infertility OMIM:620319
Oocyte/Zygote/Embryo Maturation Arrest 20
Amenorrhea, Female infertility OMIM:620383
15Q24 Microdeletion Syndrome
Small hand, Clinodactyly, Postnatal growth retardation, Cryptorchidism, Congenital diaphragmatic ... ORPHA:94065
Lymphangiectasia, Intestinal
Neonatal hypoproteinemia, Decreased circulating IgG level OMIM:152800
Autosomal Recessive Multiple Pterygium Syndrome
Small scrotum, Finger syndactyly, Cryptorchidism, Low posterior hairline, Epicanthus, Symphalangi... ORPHA:2990
Autoimmune Disease, Multisystem, With Facial Dysmorphism
Hepatitis, Decreased circulating IgA level, Autoimmunity, Limited elbow extension, Portal hyperte... OMIM:613385
Primary Intestinal Lymphangiectasia
Hypoalbuminemia, Decreased circulating IgG level, Opportunistic infection, Cryptococcal meningiti... ORPHA:90362
Immunodeficiency 27B
Osteomyelitis, Salmonella osteomyelitis, Recurrent mycobacterium avium complex infections, Recurr... OMIM:615978
Autosomal Recessive Spondylocostal Dysostosis
Finger syndactyly, Short thorax, Camptodactyly of finger, Abnormal morphology of female internal ... ORPHA:2311
Leukocyte Adhesion Deficiency
Lymphocytic interstitial pneumonia, Impaired neutrophil chemotaxis, Glomerulonephritis, Meningiti... ORPHA:2968
Sea-Blue Histiocytosis
Blepharitis ORPHA:158029
Car T Cell Therapy-Associated Cytokine Release Syndrome
Abnormal circulating interleukin concentration, Acute kidney injury, Hypotension, Increased circu... ORPHA:542323
X-Linked Myotubular Myopathy-Abnormal Genitalia Syndrome
Thin ribs, Bifid scrotum, Glandular hypospadias, Penile hypospadias, Cryptorchidism, Penoscrotal ... ORPHA:456328
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections With Or Without Deafness
Recurrent bronchitis, Recurrent Haemophilus influenzae infections, Otitis media, Chronic sinusitis OMIM:300455
Premature Ovarian Failure 22
Premature ovarian insufficiency, Female infertility, Elevated circulating follicle stimulating ho... OMIM:620548
Ulnar-Mammary Syndrome
Decreased fertility, Cryptorchidism, Abnormal metacarpal morphology, Sprengel anomaly, Aplasia/Hy... ORPHA:3138
Hereditary Thrombophilia Due To Congenital Antithrombin Deficiency
Pulmonary embolism ORPHA:82
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii
Ivory epiphyses, Hypoplastic scapulae, Radial bowing, Hypoplastic iliac wing, Postnatal growth re... OMIM:210720
Hypotrichosis Simplex Of The Scalp
Increased circulating IgE level, Allergic rhinitis, Atopic dermatitis ORPHA:90368
Eosinophilic Gastroenteritis
Anemia, Eosinophilia, Leukocytosis ORPHA:2070
Whim Syndrome
Pneumonia, Recurrent pneumonia, Recurrent upper respiratory tract infections, Lymphadenitis, Seps... ORPHA:51636
Thrombophilia Due To Thrombin Defect
Pulmonary embolism OMIM:188050
Congenital Analbuminemia
Hypoalbuminemia, Hyperlipidemia, Increased circulating antibody level, Hypercholesterolemia, Recu... ORPHA:86816
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Abnormal circulating interleukin concentration, Recurrent viral infections, Recurrent enteroviral... ORPHA:79124
Vulvovaginal Gingival Syndrome
Abnormality of tumor necrosis factor secretion ORPHA:83453
Autoinflammatory Disease, Systemic, With Vasculitis
Atopic dermatitis, Increased circulating interleukin 6 concentration, Parotitis, Decreased circul... OMIM:620376
Wiedemann-Steiner Syndrome
Small hand, Recurrent otitis media, Long hallux, Contracture of the distal interphalangeal joint ... OMIM:605130
Primary Sclerosing Cholangitis
Hypoalbuminemia, Osteopenia, Spider hemangioma, Hepatitis, Palmar telangiectasia, Congestive hear... ORPHA:171
Woodhouse-Sakati Syndrome
Alopecia, Hypogonadism, Decreased testicular size, Decreased response to growth hormone stimulati... ORPHA:3464
Chromosome 19Q13.11 Deletion Syndrome, Distal
Postnatal growth retardation, Overlapping toe, Cutaneous finger syndactyly, Cryptorchidism, Reduc... OMIM:613026
Caffey Disease
Increased circulating antibody level ORPHA:1310
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Inflammatory abnormality of the skin, Abnormal circulating interferon-gamma concentration, Antiph... ORPHA:391487
Trisomy 13
Cataract, Abnormal pelvic girdle bone morphology, Narrow chest, Abnormal rib morphology, Abnormal... ORPHA:3378
Wiskott-Aldrich Syndrome
Inflammation of the large intestine, Keratitis, Eczematoid dermatitis, Abnormality of the menstru... ORPHA:906
Peripartum Cardiomyopathy
Dilated cardiomyopathy, Right ventricular failure, Cardiogenic shock, Increased circulating inter... ORPHA:563
Vici Syndrome
Decreased circulating IgG level, Recurrent respiratory infections, Cardiomyopathy, Joint stiffnes... ORPHA:1493
Aspergillosis
Pneumonia, Unusual CNS infection, Keratitis, Hepatitis, Increased circulating IgE level, Osteomye... ORPHA:1163
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome
Increased circulating IgE level ORPHA:1858
Pneumocystosis
Pneumocystis jirovecii pneumonia, Interstitial pneumonitis, Increased circulating antibody level,... ORPHA:723
Myhre Syndrome
Cryptorchidism, Blepharophimosis, Hypospadias, Epispadias, Abnormal penis morphology, Precocious ... ORPHA:2588
Long Qt Syndrome 13
Atrioventricular block, Pulmonary embolism, Congestive heart failure, Torsade de pointes, Reduced... OMIM:613485
Thrombocytopenia-Absent Radius Syndrome
Broad thumb, Finger syndactyly, Tibial torsion, Cervical ribs, Fibular aplasia, Aplasia/hypoplasi... ORPHA:3320
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige
Hypoalbuminemia, Increased circulating IgE level, Psoriasiform dermatitis, Eosinophilic infiltrat... OMIM:615508
Congenital Disorder Of Glycosylation, Type Iif
Aminoaciduria, Aortic regurgitation, Pulmonary hemorrhage, Decreased platelet glycoprotein Ib, Pr... OMIM:603585
Hereditary Xanthinuria
Hypouricemia, Decreased urinary urate, Rheumatoid arthritis, Acute kidney injury, Recurrent urina... ORPHA:3467
Autosomal Dominant Hyper-Ige Syndrome Due To Stat3 Deficiency
Osteopenia, Eczematoid dermatitis, Recurrent respiratory infections, Increased circulating IgE le... ORPHA:2314
Linear Skin Defects With Multiple Congenital Anomalies 1
Iris coloboma, Clitoral hypertrophy, Cataract, Peters anomaly, Congenital diaphragmatic hernia, O... OMIM:309801
Lymphoid Interstitial Pneumonia
Rheumatoid arthritis, Eczematoid dermatitis, Severe viral infection, Autoimmunity, Skin rash, Pul... ORPHA:79128
Cone-Rod Synaptic Disorder Syndrome, Congenital Nonprogressive
Optic disc pallor, Hyperglycemia, Retinal thinning OMIM:618970
Systemic Lupus Erythematosus, Susceptibility To, 6
Abnormal renal physiology, Systemic lupus erythematosus, Malar rash, Antinuclear antibody positiv... OMIM:609939
Oculocerebrocutaneous Syndrome
Short distal phalanx of finger, Congenital hip dislocation, Alopecia, Finger syndactyly, Cryptorc... ORPHA:1647
Meier-Gorlin Syndrome 1
Thin ribs, Clitoral hypertrophy, Small hand, Joint contracture of the hand, Elbow dislocation, Cu... OMIM:224690
Ebola Hemorrhagic Fever
Gastrointestinal hemorrhage, Sepsis, Hepatitis, Increased circulating antibody level, Melena, Mac... ORPHA:319218
Mucous Membrane Pemphigoid
Autoimmunity ORPHA:46486
Scarf Syndrome
Pectus carinatum, Bifid scrotum, Downslanted palpebral fissures, Umbilical hernia, Cryptorchidism... ORPHA:3134
Microcephaly-Cervical Spine Fusion Anomalies Syndrome
Abnormal clavicle morphology, Abnormal hip bone morphology, Ptosis, Abnormal rib morphology, Shor... ORPHA:2522
Linear Iga Dermatosis
Renal neoplasm, Epistaxis, Inflammation of the large intestine, Autoimmunity ORPHA:46488
Antisynthetase Syndrome
Aortic regurgitation, Joint dislocation, Autoimmunity, Skin rash, Elevated circulating creatine k... ORPHA:81
Japanese Encephalitis
Genu recurvatum, Stiff neck, Elbow flexion contracture, Increased circulating antibody level, Inf... ORPHA:79139
Mucoepithelial Dysplasia, Hereditary
Cor pulmonale, Alopecia, Coarse hair, Nail dystrophy, Eosinophilia, Sparse hair OMIM:158310
Candidiasis, Familial, 8
Cheilitis, Seborrheic dermatitis, Blepharitis, Chronic oral candidiasis OMIM:615527
Granulomatous Disease, Chronic, Autosomal Recessive, 1
Discoid lupus rash, Recurrent pneumonia, Recurrent Klebsiella infections, Lymphadenitis, Eczemato... OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2
Discoid lupus rash, Recurrent pneumonia, Recurrent Klebsiella infections, Lymphadenitis, Eczemato... OMIM:233710
Rheumatoid Arthritis
Vasculitis, Rheumatoid arthritis, Polyarticular arthritis, Anti-citrullinated protein antibody po... OMIM:180300
Immunodeficiency 47
Decreased circulating total IgG, Chronic decreased circulating total IgG, Tricuspid regurgitation... OMIM:300972
Hereditary Folate Malabsorption
Eosinophilia, Pancytopenia, Megaloblastic anemia, Thrombocytopenia ORPHA:90045
Anti-Glomerular Basement Membrane Disease
Vasculitis, Autoimmunity, Renal insufficiency, Proteinuria, Hematuria, Glomerulopathy, Arthritis ORPHA:375
Autoimmune Polyendocrinopathy Type 4
Atrophic gastritis, Osteopenia, Rheumatoid arthritis, Hepatitis, Autoimmunity, Antiphospholipid a... ORPHA:227990
Bullous Pemphigoid
Eczematoid dermatitis, Anti-BP180 antibody positivity, Autoimmunity, Psoriasiform dermatitis, Ant... ORPHA:703
Bloom Syndrome
Pneumonia, Decreased circulating IgG level, Cheilitis, Recurrent infections, Severe varicella zos... ORPHA:125
Systemic-Onset Juvenile Idiopathic Arthritis
Autoimmunity, Skin rash, Joint swelling, Elevated circulating C-reactive protein concentration, A... ORPHA:85414
Jeune Syndrome
Abnormal pelvic girdle bone morphology, Toe syndactyly, Postaxial foot polydactyly, Cone-shaped e... ORPHA:474
Microphthalmia With Limb Anomalies
Toe syndactyly, Postaxial foot polydactyly, Postnatal growth retardation, Blepharophimosis, 2-5 t... OMIM:206920
Immunodeficiency 87 And Autoimmunity
Atrophic gastritis, Anticardiolipin IgG antibody positivity, Recurrent viral infections, Sepsis, ... OMIM:619573
Granulomatous Disease, Chronic, Autosomal Recessive, 4
Discoid lupus rash, Recurrent pneumonia, Recurrent Klebsiella infections, Lymphadenitis, Eczemato... OMIM:233690
Waldenström Macroglobulinemia
Vasculitis, Monoclonal immunoglobulin M proteinemia, Gastrointestinal hemorrhage, Epistaxis, Cong... ORPHA:33226
Pediatric Systemic Lupus Erythematosus
Discoid lupus rash, Nephritis, Antineutrophil antibody positivity, Abnormality of the urinary sys... ORPHA:93552
Lipodystrophy, Congenital Generalized, Type 4
Recurrent infections, Osteopenia, Recurrent pneumonia, Decreased circulating IgA level, Bradycard... OMIM:613327
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Hematochezia, Psoriasiform dermatitis, Interface hepatitis, Autoimmune hemolytic anemia, Autoimmu... OMIM:243150
Immunodeficiency 82 With Systemic Inflammation
Decreased circulating total IgG, Pustular rash, Osteomalacia, Recurrent otitis media, Elevated ci... OMIM:619381
Alg12-Cdg
Hypoalbuminemia, Hypospadias, Recurrent pneumonia, Sepsis, Abnormal circulating IgM level, Hypoch... ORPHA:79324
Microcephaly 20, Primary, Autosomal Recessive
Vaginal atresia, Intrauterine growth retardation, Hypoplasia of the uterus, Short stature OMIM:617914
Turner Syndrome Due To Structural X Chromosome Anomalies
Inflammation of the large intestine, Recurrent otitis media, Postnatal growth retardation, Genu v... ORPHA:99413
Mosaic Monosomy X
Inflammation of the large intestine, Recurrent otitis media, Postnatal growth retardation, Genu v... ORPHA:99228
Monosomy X
Inflammation of the large intestine, Recurrent otitis media, Postnatal growth retardation, Genu v... ORPHA:99226
Turner Syndrome
Inflammation of the large intestine, Recurrent otitis media, Postnatal growth retardation, Genu v... ORPHA:881
46,Xy Partial Gonadal Dysgenesis
Clitoral hypertrophy, Elevated circulating luteinizing hormone level, Abnormal vagina morphology,... ORPHA:251510
Cat-Eye Syndrome
Abnormal rib morphology, Downslanted palpebral fissures, Intrauterine growth retardation, Hip dys... ORPHA:195
Interstitial Granulomatous Dermatitis With Arthritis
Inflammatory abnormality of the skin, Rheumatoid arthritis, Elevated circulating C-reactive prote... ORPHA:79099
Ulna And Fibula, Absence Of, With Severe Limb Deficiency
Small scrotum, Radial bowing, Aplasia/Hypoplasia of the pubic bone, Fibular aplasia, Cryptorchidi... OMIM:276820
Scarf Syndrome
Lambdoidal craniosynostosis, Pectus carinatum, Coronal craniosynostosis, Bifid scrotum, Downslant... OMIM:312830
Autoimmune Hypoparathyroidism
Calcium nephrolithiasis, Hyperphosphatemia, Chronic mucocutaneous candidiasis, Hypocalcemic tetan... ORPHA:36913
Igg4-Related Pachymeningitis
Nephritis, Lymphadenitis, Parotitis, Increased circulating IgG4 level, Reduced circulating comple... ORPHA:449427
Short-Rib Thoracic Dysplasia 17 With Or Without Polydactyly
Narrow chest, Postaxial foot polydactyly, Acetabular spurs, Horizontal ribs, Short ribs, Brachyda... OMIM:617405
3Mc Syndrome
Highly arched eyebrow, Caudal appendage, Bilateral cryptorchidism, Supernumerary nipple, Downslan... ORPHA:293843
Preeclampsia
Chronic kidney disease, Elevated systolic blood pressure, Acute kidney injury, Elevated diastolic... ORPHA:275555
Leishmaniasis
Hypoalbuminemia, Rhinitis, Increased circulating antibody level ORPHA:507
Osteopetrosis, Autosomal Recessive 7
Decreased circulating IgG level, Recurrent pneumonia, Decreased circulating IgA level, Femur frac... OMIM:612301
Tubulointerstitial Nephritis And Uveitis Syndrome
Increased circulating antibody level, Scleritis, Tubulointerstitial nephritis, Elevated circulati... ORPHA:91500
Cocaine Intoxication
Acute kidney injury, Diffuse alveolar hemorrhage, Hypotension, Ventricular arrhythmia, Prolonged ... ORPHA:90068
Diabetes And Deafness, Maternally Inherited
Pigmentary retinopathy, Cardiomyopathy, Hyperglycemia, Type II diabetes mellitus, Retinal degener... OMIM:520000
Schimke Immunoosseous Dysplasia
Focal segmental glomerulosclerosis, Osteopenia, Shallow acetabular fossae, Transient ischemic att... OMIM:242900
Paternal Uniparental Disomy Of Chromosome 1
Proteinuria, Hypertension, Increased blood urea nitrogen, Macroscopic hematuria, Membranoprolifer... ORPHA:251004
Congenital Disorder Of Glycosylation, Type Ig
Decreased circulating IgG level, Recurrent upper respiratory tract infections, Recurrent pneumoni... OMIM:607143
Multiple Pterygium Syndrome, Escobar Variant
Intercrural pterygium, Dysplastic patella, Patellar aplasia, Cryptorchidism, Congenital diaphragm... OMIM:265000
Renal And Mullerian Duct Hypoplasia
Severe postnatal growth retardation, Aplasia of the uterus, Anteriorly displaced urethral meatus,... OMIM:266810
Seckel Syndrome 1
Ivory epiphyses, Clitoral hypertrophy, Sandal gap, Hypoplasia of proximal radius, Downslanted pal... OMIM:210600
Autoimmune Polyendocrinopathy Type 3
Atrophic gastritis, Osteopenia, Rheumatoid arthritis, Hepatitis, Autoimmunity, Hashimoto thyroidi... ORPHA:227982
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome
Abnormal sternum morphology, Supernumerary nipple, Broad ribs, Cryptorchidism, Short ribs, Epican... ORPHA:2519
Calcific Aortic Disease With Immunologic Abnormalities, Familial
Aortic valve stenosis, Aortic regurgitation, Increased circulating antibody level OMIM:114065
Gaucher Disease
Osteopenia, Joint dislocation, Hepatitis, Osteolysis, Pathologic fracture, Osteomyelitis, Joint s... ORPHA:355
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Impaired Intellectual Development Syndrome
Abnormal vagina morphology, Abnormality of the uterus, Aniridia, Streak ovary, Obesity, Cryptorch... OMIM:194072
Chromosome 2P16.1-P15 Deletion Syndrome
Short palpebral fissure, Joint contracture of the hand, Downslanted palpebral fissures, Hypogonad... OMIM:612513
Dyskeratosis Congenita, Digenic
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level... OMIM:620040
Chronic Thromboembolic Pulmonary Hypertension
Inflammation of the large intestine, Increased HDL cholesterol concentration, Right ventricular f... ORPHA:70591
Urban-Rogers-Meyer Syndrome
Camptodactyly of finger, Increased circulating IgE level, Abnormality of the ureter, Osteoporosis... ORPHA:3409
Woodhouse-Sakati Syndrome
Alopecia, Fine hair, Decreased testicular size, Hypogonadotropic hypogonadism, Micropenis, Premat... OMIM:241080
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism
Cataract, Small hand, Elevated circulating luteinizing hormone level, Premature graying of hair, ... OMIM:300845
Factor V Excess With Spontaneous Thrombosis
Pulmonary embolism OMIM:134400
Leukocyte Adhesion Deficiency, Type I
Periodontitis, Chronic mucocutaneous candidiasis, Osteomyelitis, Recurrent gram-negative bacteria... OMIM:116920
Autosomal Dominant Popliteal Pterygium Syndrome
Small scrotum, Toe syndactyly, Popliteal pterygium, Finger syndactyly, Bifid scrotum, Ankylobleph... ORPHA:1300
Hyperproinsulinemia
Hyperglycemia, Hyperinsulinemia OMIM:616214
New-Onset Refractory Status Epilepticus
Abnormal circulating interleukin concentration, Autoimmunity, Infectious encephalitis ORPHA:363558
Acute Generalized Exanthematous Pustulosis
Eosinophilia, Leukocytosis, Neutropenia, Neutrophilia ORPHA:293173
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies
Epiphyseal dysplasia, Decreased response to growth hormone stimulation test, Postnatal growth ret... OMIM:614732
Microphthalmia, Syndromic 9
Severe short stature, Intrauterine growth retardation, Congenital diaphragmatic hernia, Cryptorch... OMIM:601186
Kallmann Syndrome
Abnormal morphology of female internal genitalia, Decreased testicular size, Breast hypoplasia, O... ORPHA:478
Spondyloepimetaphyseal Dysplasia, Irapa Type
Pectus carinatum, Synostosis of carpal bones, Abnormal epiphysis morphology, Disproportionate sho... ORPHA:93351
Specific Granule Deficiency 2
Osteopenia, Recurrent pneumonia, Sepsis, Recurrent otitis media, Recurrent bacterial infections OMIM:617475
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Hypoplastic ilia, Narrow chest, Thoracic hypoplasia, Lateral clavicle hook, Horizontal ribs, Shor... OMIM:617895
Drug Reaction With Eosinophilia And Systemic Symptoms
Myocarditis, Eosinophilia, Lymphocytosis ORPHA:139402
Acro-Renal-Mandibular Syndrome
Thin ribs, Pectus carinatum, Hypoplastic scapulae, Abnormal clavicle morphology, Uterus didelphys... ORPHA:958
Axial Mesodermal Dysplasia Spectrum
Abnormal pelvic girdle bone morphology, Abnormal morphology of female internal genitalia, Congeni... ORPHA:1834
Vici Syndrome
Decreased circulating IgG level, Cutaneous anergy, Recurrent viral infections, Dilated cardiomyop... OMIM:242840
Peters-Plus Syndrome
Facial hypertrichosis, Square pelvis bone, Postnatal growth retardation, Cryptorchidism, Decrease... OMIM:261540
Leukonychia Totalis
Abnormal eyelash morphology, Blepharitis, Adenoma sebaceum ORPHA:2387
Premature Ovarian Failure 20
Elevated circulating luteinizing hormone level, Female infertility, Elevated circulating follicle... OMIM:619938
Microscopic Polyangiitis
Vasculitis, Uveitis, Oliguria, Gastrointestinal hemorrhage, Epistaxis, Congestive heart failure, ... ORPHA:727
Craniodiaphyseal Dysplasia
Short stature, Diaphyseal undertubulation, Abnormal rib morphology ORPHA:1513
Neutropenia, Severe Congenital, X-Linked
Recurrent bacterial infections, Eczematoid dermatitis OMIM:300299
Acquired Ichthyosis
Recurrent skin infections, Renal insufficiency, Autoimmunity ORPHA:454
Spondyloenchondrodysplasia
Pneumonia, Chronic kidney disease, Vasculitis, Hepatitis, Systemic lupus erythematosus, Anti-dsDN... ORPHA:1855
8P11.2 Deletion Syndrome
Microcornea, Growth delay, Hypogonadism, Azoospermia, Cryptorchidism, Upslanted palpebral fissure... ORPHA:251066
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5
Focal segmental glomerulosclerosis, Nephropathy, Chronic kidney disease, Elevated circulating cre... OMIM:617056
Trisomy 18
Cryptorchidism, Congenital diaphragmatic hernia, Hernia, Epicanthus, Cachexia, Blepharophimosis, ... ORPHA:3380
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency
Clitoral hypertrophy, Long penis, Precocious puberty in males, Congenital adrenal hyperplasia, De... OMIM:202010
Secondary Non-Traumatic Avascular Necrosis
Rheumatoid arthritis, Limitation of joint mobility, Autoimmunity, Systemic lupus erythematosus ORPHA:399180
Eosinophilic Granulomatosis With Polyangiitis
Hypertrophic cardiomyopathy, Abnormal pericardium morphology, Eosinophilia, Myocarditis, Endocard... ORPHA:183
Mixed-Type Autoimmune Hemolytic Anemia
Abnormal urinary color, Systemic lupus erythematosus, Increased total bilirubin, Autoimmunity, Au... ORPHA:90036
Alagille Syndrome
Short distal phalanx of finger, Keratoconus, Failure to thrive, Downslanted palpebral fissures, I... ORPHA:52
Heart Defects-Limb Shortening Syndrome
Narrow chest, Disproportionate short stature, Mesomelic/rhizomelic limb shortening, Abnormal rib ... ORPHA:1354
Febrile Infection-Related Epilepsy Syndrome
Autoimmunity, Sinusitis ORPHA:163703
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome
Short stature, Premature ovarian insufficiency, Female infertility, Failure to thrive OMIM:619518
Silver-Russell Syndrome
Precocious puberty, Abnormal male external genitalia morphology, Abnormal vagina morphology, Abno... ORPHA:813
Leukocyte Adhesion Deficiency, Type Iii
Epistaxis, Sepsis, Osteopetrosis, Recurrent bacterial infections, Recurrent skin infections OMIM:612840
Gorlin Syndrome
Cataract, Telecanthus, Cryptorchidism, Arachnodactyly, Hypogonadotropic hypogonadism, Ovarian fib... ORPHA:377
Ciliary Dyskinesia, Primary, 37
Chronic rhinitis, Female infertility, Bronchiectasis, Goiter OMIM:617577
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Hypoplastic scapulae, Elevated circulating luteinizing hormone level, Clinodactyly, Abnormal fema... ORPHA:95699
Hepatoerythropoietic Porphyria
Seborrhoeic blepharitis, Facial hypertrichosis, Loss of eyelashes, Keratoconjunctivitis, Scleriti... ORPHA:95159
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome
Uterus didelphys, Septate vagina, Aplasia of the vagina, Aplasia of the uterus, Ptosis, Primary a... OMIM:146255
Thrombocytopenia-Absent Radius Syndrome
Short forearm, Broad thumb, Finger syndactyly, Carpal synostosis, Fibular aplasia, Patellar aplas... OMIM:274000
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia
Cellulitis, Inflammation of the large intestine, Recurrent pneumonia, Failure to thrive, Skin ras... OMIM:617718
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Midshaft hypospadias, Clitoral hypertrophy, Elevated circulating luteinizing hormone level, Abnor... ORPHA:168558
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Clitoral hypertrophy, Frontal balding, Decreased fertility, Weight loss, Decreased testicular siz... ORPHA:90794
Metatropic Dysplasia
Severe short stature, Cataract, Narrow chest, Coarse metaphyseal trabecularization, Camptodactyly... ORPHA:2635
Myotonic Dystrophy 2
Decreased circulating IgG level, Palpitations, Elevated circulating creatine kinase concentration... OMIM:602668
Spastic Paraplegia Type 2
Recurrent respiratory infections, Limitation of joint mobility, Spastic/hyperactive bladder, Pulm... ORPHA:99015
Late-Onset Isolated Acth Deficiency
Normocytic anemia, Type I diabetes mellitus, Hypoglycemia, Macrocytic anemia, Eosinophilia ORPHA:199299
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Thoracic hypoplasia, Flared metaphysis, Decreased fibular diameter, Telecanthus, Intrauterine gro... OMIM:616897
Mayer-Rokitansky-Küster-Hauser Syndrome
Ectopic ovary, Aplasia of the ovary, Endometriosis, Aplasia of the uterus, Dyspareunia, Primary a... ORPHA:3109
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Midshaft hypospadias, Clitoral hypertrophy, Elevated circulating luteinizing hormone level, Abnor... ORPHA:289548
Igg4-Related Ophthalmic Disease
Keratitis, Increased circulating IgE level, Increased circulating IgG4 level, Orchitis, Antinucle... ORPHA:449563
Atrial Septal Defect, Ostium Secundum Type
Mitral regurgitation, Arrhythmia, Systolic heart murmur, Right ventricular failure, Tricuspid reg... ORPHA:99103
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies
Thin ribs, Absent external genitalia, Block vertebrae, Inguinal hernia, Aplasia of the vagina, Sh... OMIM:271520
Septopreoptic Holoprosencephaly
Precocious puberty, Ethmoidal encephalocele, Anterior hypopituitarism, Abnormal rib morphology ORPHA:280195
Bloom Syndrome
Decreased circulating IgG level, Recurrent upper respiratory tract infections, Facial telangiecta... OMIM:210900
Peters Plus Syndrome
Toe syndactyly, Postnatal growth retardation, Cryptorchidism, Hypoplasia of the uterus, Short foo... ORPHA:709
Diabetes Mellitus, Ketosis-Prone
Autoimmunity OMIM:612227
Limited Cutaneous Systemic Sclerosis
Joint contracture of the hand, Foot joint contracture, Autoimmunity, Pulmonary arterial hypertens... ORPHA:220402
Ataxia-Telangiectasia
Decreased circulating IgG level, Defective B cell differentiation, Decreased circulating IgA leve... OMIM:208900
Glycogen Storage Disease Ib
Focal segmental glomerulosclerosis, Inflammation of the large intestine, Decreased glomerular fil... OMIM:232220
Transcobalamin Ii Deficiency
Decreased circulating IgG level, Methylmalonic aciduria, Decreased circulating IgA level, Hyperho... OMIM:275350
Al Amyloidosis
Hypoalbuminemia, Gastrointestinal hemorrhage, Abnormal P wave, Postural hypotension with compensa... ORPHA:85443
Vacterl/Vater Association
Aplasia/Hypoplasia of the radius, Occipital encephalocele, Finger syndactyly, Bifid scrotum, Abno... ORPHA:887
Idiopathic Bronchiectasis
Recurrent Haemophilus influenzae infections, Myocardial infarction, Acute infectious pneumonia, R... ORPHA:60033
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Bone marrow hypocellularity, Vasculitis, Dilated cardiomyopathy, Eczematoid dermatitis, Recurrent... OMIM:615688
Chromosome 17Q23.1-Q23.2 Deletion Syndrome
Slender finger, Tibial torsion, Postnatal growth retardation, Epicanthus, Long toe, Long fingers,... OMIM:613355
Ellis-Van Creveld Syndrome
Pectus carinatum, Capitate-hamate fusion, Postaxial foot polydactyly, Narrow chest, Disproportion... OMIM:225500
Warburg Micro Syndrome 2
Small scrotum, Cataract, Microcornea, Postnatal growth retardation, Overlapping toe, Cryptorchidi... OMIM:614225
Gaucher Disease Type 1
Elevated circulating CCL18 level, Osteopenia, Increased circulating ferritin concentration, Patho... ORPHA:77259
Acrorenal-Mandibular Syndrome
Thin ribs, Hypoplastic scapulae, Toe syndactyly, Rudimentary fibula, Congenital diaphragmatic her... OMIM:200980
Cockayne Syndrome Type 2
Male hypogonadism, Intrauterine growth retardation, Cryptorchidism, Scarring, Enamel hypoplasia, ... ORPHA:90322
Incontinentia Pigmenti
Alopecia, Dystrophic toenail, Supernumerary nipple, Abnormal hair morphology, Retinal vascular pr... ORPHA:464
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Toe syndactyly, Shallow acetabular fossae, Broad thumb, Hypoplastic iliac wing, Cryptorchidism, E... OMIM:609945
Trisomy 1Q
Small scrotum, Toe syndactyly, Short thorax, Preaxial hand polydactyly, Camptodactyly of finger, ... ORPHA:261344
Progeroid Short Stature With Pigmented Nevi
Allergic rhinitis, Cataract, Abnormal joint morphology, Allergic conjunctivitis, Thoracic scolios... OMIM:176690
Allergic Bronchopulmonary Aspergillosis
Abnormal eosinophil morphology ORPHA:1164
Maturity-Onset Diabetes Of The Young, Type 13
Maturity-onset diabetes of the young, Hyperglycemia, Maternal diabetes, Elevated hemoglobin A1c, ... OMIM:616329
Atrial Septal Defect, Coronary Sinus Type
Pneumonia, Right ventricular failure, Bundle branch block, Transient ischemic attack, Palpitation... ORPHA:99104
Maternal Uniparental Disomy Of Chromosome 2
Abnormality of the ankle, Contractures of the large joints, Preaxial hand polydactyly, Bilateral ... ORPHA:96179
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis
Small scrotum, Clitoral hypertrophy, Joint contracture of the hand, Carpal synostosis, Cryptorchi... OMIM:201750
Myotubular Myopathy With Abnormal Genital Development
Thin ribs, Bifid scrotum, Bilateral cryptorchidism, Glandular hypospadias, Penile hypospadias, Am... OMIM:300219
Cardiomyopathy, Familial Hypertrophic, 15
Apical hypertrophic cardiomyopathy, Congestive heart failure, Hypertrophic cardiomyopathy, Hyperd... OMIM:613255
Juvenile Xanthogranuloma
Asymmetry of iris pigmentation, Uveitis, Blepharitis, Iritis ORPHA:158000
Diabetes Mellitus, Permanent Neonatal, 4
Elevated hemoglobin A1c, Type I diabetes mellitus, Hyperglycemia, Diabetic ketoacidosis OMIM:618858
Polymyositis
Vasculitis, Gastrointestinal hemorrhage, Chondrocalcinosis, Abnormal atrioventricular conduction,... ORPHA:732
Grant Syndrome
Abnormality of the glenoid fossa, Abnormal pelvic girdle bone morphology, Narrow chest, Joint dis... ORPHA:2097
Pemphigus Vulgaris
Autoimmunity, Anti-desmoglein-1 antibody positivity, Anti-desmoglein-3 antibody positivity, Recur... ORPHA:704
Waardenburg Syndrome, Type 1
Premature graying of hair, Myelomeningocele, Telecanthus, Thick eyebrow, White forelock, Aplasia ... OMIM:193500
Isolated Osteopoikilosis
Discoid lupus rash, Sclerotic foci within carpal bones, Tarsal sclerosis, Limitation of joint mob... ORPHA:166119
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome
Chronic kidney disease, Facial telangiectasia in butterfly midface distribution, Renal insufficie... OMIM:137940
Granulomatous Disease, Chronic, X-Linked
Discoid lupus rash, Recurrent pneumonia, Recurrent Klebsiella infections, Lymphadenitis, Eczemato... OMIM:306400
Tropical Endomyocardial Fibrosis
Abnormal atrioventricular valve physiology, Restrictive cardiomyopathy, P pulmonale, Mitral regur... ORPHA:75565
Tetraamelia-Multiple Malformations Syndrome
Cataract, Microcornea, Aplasia/Hypoplasia involving the pelvis, Cryptorchidism, Missing ribs, Abn... ORPHA:3301
Goodpasture Syndrome
Glomerular crescent formation, Erythrocyte cylindruria, Anti-glomerular basement membrane-antibod... OMIM:233450
Congenital Disorder Of Glycosylation, Type Ia
Hypoalbuminemia, Decreased circulating IgG level, Osteopenia, Proximal tubulopathy, Cardiomyopath... OMIM:212065
Combined Immunodeficiency Due To Partial Rag1 Deficiency
Sepsis, Autoimmunity, Interstitial pneumonitis, Autoimmune hemolytic anemia, Neutropenia in prese... ORPHA:231154
Purine Nucleoside Phosphorylase Deficiency
Hypouricemia, Decreased urinary urate, Recurrent respiratory infections, Systemic lupus erythemat... ORPHA:760
Floating-Harbor Syndrome
Broad thumb, Recurrent otitis media, Cryptorchidism, Low posterior hairline, Broad fingertip, Gen... OMIM:136140
Wolf-Hirschhorn Syndrome
Ectopia pupillae, Cryptorchidism, Low posterior hairline, Radioulnar synostosis, Epicanthus, Shor... OMIM:194190
Schwartz-Jampel Syndrome
Arthrogryposis multiplex congenita, Elbow dislocation, Genu valgum, Hip contracture, Decreased bo... ORPHA:800
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Hematochezia, Inflammation of the large intestine, Dilated cardiomyopathy, Lymphadenitis, Eczemat... OMIM:615895
Mesomelic Dysplasia, Kantaputra Type
Ulnar deviation of finger, Abnormality of the ankle, Synostosis of carpal bones, Camptodactyly of... ORPHA:1836
Otopalatodigital Syndrome Type 2
Synostosis of carpal bones, Elbow dislocation, Carpal synostosis, Fibular aplasia, Encephalocele,... ORPHA:90652
Metaphyseal Dysostosis, Impaired Intellectual Development, And Conductive Deafness
Recurrent otitis media, Genu valgum, Carpal bone hypoplasia, Broad phalanx, Metaphyseal dysplasia... OMIM:250420
Congenital Erythropoietic Porphyria
Seborrhoeic blepharitis, Facial hypertrichosis, Loss of eyelashes, Keratoconjunctivitis, Scleriti... ORPHA:79277
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities
Lymphopenia, Eosinophilia OMIM:617425
Nail-Patella Syndrome
Patellar hypoplasia, Limited elbow extension, Patellar aplasia, Renal insufficiency, Hematuria, P... OMIM:161200
Congenital Disorder Of Glycosylation, Type Iib
Decreased circulating IgA level, Decreased circulating antibody level, Recurrent fractures OMIM:606056
Unclassified Myelodysplastic Syndrome
Bone marrow hypocellularity, Autoimmunity ORPHA:98827
Coffin-Lowry Syndrome
Pectus carinatum, Bifid sternum, Highly arched eyebrow, Coarse hair, Downslanted palpebral fissur... OMIM:303600
Syndromic Multisystem Autoimmune Disease Due To Itch Deficiency
Recurrent infections, Antineutrophil antibody positivity, Hepatitis, Autoimmunity, Portal hyperte... ORPHA:228426
Kbg Syndrome
Ulnar deviation of the 2nd finger, Cryptorchidism, Low posterior hairline, Epispadias, Syndactyly... OMIM:148050
Phocomelia, Schinzel Type
Finger aplasia, Disproportionate short stature, Radial bowing, Ectrodactyly, Aplasia/Hypoplasia i... ORPHA:2879
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Inflammation of the large intestine, Periodontitis, Tubulointerstitial fibrosis, Osteopenia, Incr... ORPHA:79259
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Decreased proportion of CD8-positive T cells, Lymphopenia, Hypereosinophilia, Decreased proportio... ORPHA:508533
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Postprandial hyperglycemia, Insulin-resistant diabetes mellitus, Hypertrichosis, Hypoglycemia, Hy... OMIM:262190
Dyggve-Melchior-Clausen Disease
Epiphyseal dysplasia, Genu valgum, Disproportionate short-trunk short stature, Horizontal inferio... ORPHA:239
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1
Supernumerary nipple, Recurrent otitis media, Postnatal growth retardation, Overlapping toe, Low ... OMIM:213980
Ossification Anomalies-Psychomotor Developmental Delay Syndrome
Thin ribs, Short distal phalanx of finger, Short 5th finger, Triangular shaped distal phalanges o... ORPHA:73230
Livedoid Vasculopathy
Abnormality of complement system, Abnormal circulating lipid concentration, Systemic lupus erythe... ORPHA:542643
Type 1 Diabetes Mellitus
Decreased level of 1,5 anhydroglucitol in serum, Autoimmunity, Polyuria OMIM:222100
Ear-Patella-Short Stature Syndrome
Clitoral hypertrophy, Elbow dislocation, Cryptorchidism, Patellar aplasia, Hypoplastic labia majo... ORPHA:2554
Hermansky-Pudlak Syndrome 2
Recurrent pneumonia, Periodontitis, Recurrent otitis media, Impaired ADP-induced platelet aggrega... OMIM:608233
Neutropenia, Severe Congenital, 3, Autosomal Recessive
Recurrent bacterial infections OMIM:610738
Lenz-Majewski Hyperostotic Dwarfism
Delayed cranial suture closure, Cutaneous finger syndactyly, Humeroradial synostosis, Cryptorchid... OMIM:151050
Multiple Pterygium-Malignant Hyperthermia Syndrome
Severe short stature, Small scrotum, Ulnar deviation of finger, Finger syndactyly, Camptodactyly ... ORPHA:2215
Postaxial Acrofacial Dysostosis
Congenital hip dislocation, Short thumb, Supernumerary nipple, Downslanted palpebral fissures, Ec... OMIM:263750
Mixed Connective Tissue Disease
Nephropathy, Gastrointestinal hemorrhage, Joint stiffness, Autoimmunity, Skin rash, Joint swellin... ORPHA:809
Diabetes Mellitus, Transient Neonatal, 3
Transient neonatal diabetes mellitus, Elevated hemoglobin A1c, Maternal diabetes, Hyperglycemia OMIM:610582
Thrombophilia Due To Protein C Deficiency, Autosomal Recessive
Vitreous hemorrhage, Pulmonary embolism OMIM:612304
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome
Tapered toe, Alopecia, Sparse eyebrow, Bilateral cryptorchidism, Downslanted palpebral fissures, ... ORPHA:544488
Pagod Syndrome
Abnormal clavicle morphology, Abnormality of the uterus, Abnormal morphology of female internal g... ORPHA:991
Left Ventricular Noncompaction 10
Dilated cardiomyopathy, Congestive heart failure, Syncope, Pulmonary arterial hypertension, Incre... OMIM:615396
Fibrochondrogenesis 1
Thin ribs, Hypoplastic scapulae, Small hand, Joint contracture of the hand, Broad long bones, Meg... OMIM:228520
Achondrogenesis Type 1B
Severe short stature, Narrow chest, Disproportionate short stature, Abnormal rib morphology, Umbi... ORPHA:93298
Schinzel-Giedion Midface Retraction Syndrome
Small scrotum, Aplasia/Hypoplasia of the pubic bone, Postnatal growth retardation, Hypoplastic la... OMIM:269150
Aymé-Gripp Syndrome
Megalocornea, Delayed cranial suture closure, Postnatal growth retardation, Cryptorchidism, Conge... ORPHA:1272
Lipoyltransferase 1 Deficiency
Increased total bilirubin, Bradycardia, Hyperprolinemia, Hyperglutaminemia, Pulmonary arterial hy... OMIM:616299
Takayasu Arteritis
Vasculitis, Hypertensive crisis, Hypertrophic cardiomyopathy, Cerebral ischemia, Increased inflam... ORPHA:3287
Mitochondrial Complex Iv Deficiency, Nuclear Type 15
Sepsis, Hyperglycinemia, Pulmonary arterial hypertension, Hyperalaninemia, Hip dislocation OMIM:619059
Cyclic Neutropenia
Lymphopenia, Cyclic neutropenia, Perianal abscess, Tooth abscess, Thrombocytopenia, Decreased eos... ORPHA:2686
Liver Failure, Infantile, Transient
Hypoalbuminemia, Decreased circulating IgG level, Dicarboxylic aciduria, Hyperbilirubinemia, 3-hy... OMIM:613070
Foxp1 Syndrome
Decreased circulating iron concentration, Recurrent upper respiratory tract infections, Recurrent... ORPHA:391372
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Abnormal circulating interleukin concentration, Increased circulating ferritin concentration, Hyp... ORPHA:158057
Neonatal Inflammatory Skin And Bowel Disease
Horizontal eyebrow, Chapped lip, Psoriasiform dermatitis, Pustule, Recurrent bacterial skin infec... ORPHA:294023
Scleromyxedema
Paraproteinemia, Transient ischemic attack, Elevated circulating creatine kinase concentration, R... ORPHA:167635
Diffuse Cutaneous Systemic Sclerosis
Hypertensive crisis, Oliguria, Congestive heart failure, Autoimmunity, Renal insufficiency, Pulmo... ORPHA:220393
Phaver Syndrome
Ulnar deviation of finger, Broad thumb, Short thumb, Camptodactyly of finger, Downslanted palpebr... ORPHA:2876
Gamma-Heavy Chain Disease
Rheumatoid arthritis, Autoimmunity, Skin rash, Autoimmune hemolytic anemia, Recurrent respiratory... ORPHA:100026
Poland Syndrome
Small hand, Finger syndactyly, Aplasia/Hypoplasia of the sternum, Cryptorchidism, Congenital diap... ORPHA:2911
Extracranial Carotid Artery Aneurysm
Vasculitis, Arteritis, Opportunistic infection, Autoimmunity, Cerebral ischemia, Subarachnoid hem... ORPHA:494424
Alveolar Echinococcosis
Cutaneous abscess, Abnormal pericardium morphology, Eosinophilia, Abnormal spleen morphology, Ane... ORPHA:284
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome
Abnormal hair whorl, Broad hallux, Inguinal hernia, Aplasia of the vagina, Postaxial polydactyly,... ORPHA:457284
Chédiak-Higashi Syndrome
Recurrent staphylococcal infections, Abnormality of neutrophil physiology, Epistaxis, Periodontit... ORPHA:167
Cornelia De Lange Syndrome 1
Cryptorchidism, Congenital diaphragmatic hernia, Low posterior hairline, Hypoplastic labia majora... OMIM:122470
Donnai-Barrow Syndrome
Cataract, Downslanted palpebral fissures, Hypoplasia of the iris, Umbilical hernia, Congenital di... OMIM:222448
Mitochondrial Complex I Deficiency, Nuclear Type 35
Cardiomyopathy, Hyperprolinemia, Pulmonary arterial hypertension, Hyperalaninemia, Lacticaciduria... OMIM:619003
Diabetes Mellitus, Permanent Neonatal, 1
Elevated hemoglobin A1c, Type I diabetes mellitus, Diabetes mellitus, Hyperglycemia OMIM:606176
Celiac Disease, Susceptibility To, 1
Rickets, Eczematoid dermatitis, Decreased circulating IgA level, Recurrent aphthous stomatitis, H... OMIM:212750
Shprintzen-Goldberg Craniosynostosis Syndrome
Thin ribs, Joint contracture of the hand, Genu valgum, Cryptorchidism, Arachnodactyly, Minimal su... OMIM:182212
Cenani-Lenz Syndrome
Synostosis of joints, Cataract, Toe syndactyly, Synostosis of carpal bones, Finger syndactyly, Sh... ORPHA:3258
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome
Decreased circulating IgG level, Renal hypoplasia, Delayed cranial suture closure, Decreased circ... OMIM:620005
Sjogren Syndrome
Tubulointerstitial nephritis, Rheumatoid arthritis, Autoimmunity, Keratoconjunctivitis sicca OMIM:270150
Smith-Kingsmore Syndrome
Decreased circulating IgA level OMIM:616638
Granulomatosis With Polyangiitis
Hematuria, Arrhythmia, Prostatitis, Inflammatory abnormality of the eye, Meningitis, Elevated cir... ORPHA:900
Alopecia Universalis
Atopic dermatitis, Abnormal circulating lipid concentration, Autoimmunity, Psoriasiform dermatiti... ORPHA:701
White Forelock With Malformations
Finger syndactyly, White forelock, Spina bifida occulta, Epicanthus, Sprengel anomaly, Abnormal r... ORPHA:2475
Spondyloenchondrodysplasia With Immune Dysregulation
Pneumonia, Rheumatoid arthritis, Systemic lupus erythematosus, Recurrent otitis media, Sclerosis ... OMIM:607944
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Cone-shaped epiphysis, Metaphyseal spurs, Thoracic hypoplasia, Preaxial polydactyly, Acetabular s... OMIM:613091
Stuve-Wiedemann Syndrome 2
Camptodactyly, Pulmonary arterial hypertension, Eczematoid dermatitis, Congestive heart failure OMIM:619751
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome
Decreased circulating IgA level, Hypospadias ORPHA:457485
Dyggve-Melchior-Clausen Disease
Hypoplastic scapulae, Hypoplastic iliac wing, Postnatal growth retardation, Genu valgum, Barrel-s... OMIM:223800
Idiopathic Hypereosinophilic Syndrome
Dilated cardiomyopathy, Hepatosplenomegaly, Thrombocytosis, Leukocytosis, Splenomegaly, Eosinophi... ORPHA:3260
Thrombophilia Due To Protein S Deficiency, Autosomal Dominant
Pulmonary embolism OMIM:612336
Multiple Synostoses Syndrome 1
Carpal synostosis, Cutaneous finger syndactyly, Proximal/middle symphalangism of 5th toe, Lower l... OMIM:186500
Mannosidosis, Alpha B, Lysosomal
Recurrent bacterial infections, Decreased circulating antibody level OMIM:248500
Endosteal Hyperostosis, Worth Type
Clavicular sclerosis, Diaphyseal undertubulation, Abnormal rib morphology ORPHA:2790
Gracile Bone Dysplasia
Thin ribs, Slender long bone, Flared metaphysis, Failure to thrive, Aniridia, Brachydactyly, Micr... OMIM:602361
Aicardi-Goutieres Syndrome 7
Atrophic gastritis, Pneumonia, Atopic dermatitis, Nephrotic syndrome, Vasculitis, Hepatitis, Hema... OMIM:615846
Mosaic Variegated Aneuploidy Syndrome 1
Cataract, Bifid scrotum, Postnatal growth retardation, Intrauterine growth retardation, Cryptorch... OMIM:257300
Mevalonic Aciduria
Morbilliform rash, Skin rash, Elevated urine mevalonic acid level, Elevated circulating creatine ... OMIM:610377
Gaucher Disease Type 3
Increased susceptibility to fractures, Increased circulating antibody level, Hematuria, Proteinur... ORPHA:77261
Chromosome 17Q12 Deletion Syndrome
Highly arched eyebrow, Sparse eyebrow, Upper limb undergrowth, Downslanted palpebral fissures, Hy... OMIM:614527
Cirrhotic Cardiomyopathy
Abnormal circulating B-type natriuretic peptide concentration, Congestive heart failure, Elevated... ORPHA:57777
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Narrow chest, Sparse eyebrow, Rhizomelia, Short tibia, Unicoronal synostosis, Preaxial polydactyl... OMIM:616300
Timothy Syndrome
Pneumonia, Atrioventricular block, Hypocalcemia, Pulmonary arterial hypertension, Ventricular tac... OMIM:601005
Primary Ciliary Dyskinesia
Abnormal sperm motility, Bronchiectasis, Female infertility, Recurrent otitis media, Chronic sinu... ORPHA:244
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form
Chronic kidney disease, Osteopenia, Renal amyloidosis, Foot joint contracture, IgA deposition in ... ORPHA:79408
Mosaic Trisomy 8
Narrow chest, Camptodactyly of finger, Decreased testicular size, Patellar aplasia, Cryptorchidis... ORPHA:96061
Craniofrontonasal Dysplasia-Poland Anomaly Syndrome
Sparse eyebrow, Supernumerary nipple, Abnormal reproductive system morphology, Low posterior hair... ORPHA:1521
Xylt1-Cdg
Acne, Broad thumb, Joint dislocation, Clinodactyly, Flared metaphysis, Growth delay, Broad ribs, ... ORPHA:370930
Acrocapitofemoral Dysplasia
Short tibia, Radial bowing, Hypoplastic iliac wing, Dysplasia of the femoral head, Cone-shaped ep... OMIM:607778
Fixed Subaortic Stenosis
Aortic regurgitation, Bacterial endocarditis, Congestive heart failure, Paroxysmal atrial fibrill... ORPHA:3092
Lead Poisoning
Chronic kidney disease, Abnormality of humoral immunity, Increased circulating IgE level, Increas... ORPHA:330015
Myasthenia Gravis
Rheumatoid arthritis, Hepatitis, Anti-acetylcholine receptor antibody positivity, Systemic lupus ... ORPHA:589
Hypophosphatasia
Narrow chest, Failure to thrive in infancy, Bowing of the long bones, Abnormal rib morphology, Sh... ORPHA:436
Mirage Syndrome
Sepsis, Microphallus, Recurrent urinary tract infections, Aspiration pneumonia, Hyponatremia, Rec... OMIM:617053
Microphthalmia, Syndromic 3
Cataract, Postnatal growth retardation, Cryptorchidism, Missing ribs, Hypogonadotropic hypogonadi... OMIM:206900
Complete Atrioventricular Septal Defect
Abnormal atrioventricular valve physiology, Recurrent pneumonia, Atrioventricular block, Right ve... ORPHA:1329
Combined Oxidative Phosphorylation Deficiency 41
Cardiomegaly, Anemia, Hypoglycemia OMIM:618838
Fibrochondrogenesis
Hypoplastic scapulae, Narrow chest, Abnormal diaphysis morphology, Camptodactyly of finger, Downs... ORPHA:2021
Spondyloepimetaphyseal Dysplasia, Krakow Type
Allergic rhinitis, Eczematoid dermatitis, Elbow contracture, Sclerosis of skull base, Delayed pub... OMIM:618162
Vexas Syndrome
Arteritis, Inflammatory abnormality of the skin, Neutrophilic infiltration of the skin, Nasal cho... OMIM:301054
Combined Oxidative Phosphorylation Deficiency 22
Pulmonary arterial hypertension, Hyperalaninemia, Congestive heart failure OMIM:616045
Oeis Complex
Congenital hip dislocation, Myelomeningocele, Ambiguous genitalia, female, 11 pairs of ribs, Abse... OMIM:258040
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections
Osteopenia, Recurrent pneumonia, Recurrent upper respiratory tract infections, Eczematoid dermati... OMIM:147060
Marburg Hemorrhagic Fever
Increased circulating antibody level, Tachycardia, Shock, Elevated circulating creatinine concent... ORPHA:99826
Exstrophy-Epispadias Complex
Penoscrotal transposition, Male sexual dysfunction, Bifid scrotum, Female sexual dysfunction, Abn... ORPHA:322
Lumbar Syndrome
Bifid scrotum, Myelomeningocele, Cryptorchidism, Hypoplastic labia majora, Ambiguous genitalia, M... ORPHA:83628
Kenny-Caffey Syndrome, Type 1
Hypomagnesemia, Hypocalcemia, Decreased skull ossification, Delayed closure of the anterior fonta... OMIM:244460
Pemphigus Erythematosus
Anti-acetylcholine receptor antibody positivity, Systemic lupus erythematosus, Malar rash, Autoim... ORPHA:79480
Pulmonary Arteriovenous Malformation
Bacterial endocarditis, Epistaxis, Brain abscess, Pulmonary hemorrhage, Palpitations, Hemothorax,... ORPHA:2038
Cardiomyopathy, Dilated, 2C
Reduced left ventricular ejection fraction, Pulmonary arterial hypertension, Dilated cardiomyopathy OMIM:618189
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2
Impaired renal uric acid clearance, Tubular basement membrane disintegration, Renal hypoplasia, H... OMIM:174000
Acquired Generalized Lipodystrophy
Abnormality of complement system, Abnormal circulating lipid concentration, Cardiomyopathy, Autoi... ORPHA:79086
Behçet Disease
Mitral regurgitation, Meningitis, Endocarditis, Aortic regurgitation, Vasculitis, Gastrointestina... ORPHA:117
Cleidocranial Dysplasia
Hypoplastic scapulae, Genu valgum, Abnormal metacarpal morphology, Hypoplastic inferior ilia, Chr... ORPHA:1452
Thoracolaryngopelvic Dysplasia
Hypoplastic iliac wing, Slender build, Hypoplastic pelvis, Bell-shaped thorax, Horizontal ribs, S... OMIM:187760
Neuroleptic Malignant Syndrome
Hyperphosphatemia, Aspiration pneumonia, Myoglobinuria, Arrhythmia, Urinary incontinence, Tachyca... ORPHA:94093
Mogs-Cdg
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level... ORPHA:79330
Short-Rib Thoracic Dysplasia 12
Hypoplastic scapulae, Epicanthus, Short foot, Short toe, Horizontal ribs, Inguinal hernia, Brachy... OMIM:269860
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Recurrent upper respiratory tract infections, Sepsis, Recurrent urinary tract infections, Otitis ... OMIM:612541
Familial Isolated Restrictive Cardiomyopathy
Abnormal left ventricular function, Tricuspid regurgitation, Hypertrophic cardiomyopathy, Mitral ... ORPHA:75249
Hereditary Acrokeratotic Poikiloderma
Finger syndactyly, Dystrophic toenail, Camptodactyly of finger, Eczematoid dermatitis, Abnormal h... ORPHA:2907
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Hypoplastic scapulae, Abnormality of the costochondral junction, Short tibia, Thumb contracture, ... ORPHA:96334
Severe Phosphoribosylpyrophosphate Synthetase Superactivity
Crystalluria, Acute kidney injury, Renal insufficiency, Gout, Hyperuricemia, Hyperuricosuria, Art... ORPHA:411543
Trichothiodystrophy
Cryptorchidism, Epicanthus, Brittle hair, Clubbing, Microcornea, Joint dislocation, Eczematoid de... ORPHA:33364
Immunodeficiency 21
Osteomyelitis, Recurrent fungal infections, Recurrent viral infections, Recurrent mycobacterium a... OMIM:614172
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Osteopenia, Nephrocalcinosis, Abnormality of the urinary system, Restrictive cardiomyopathy, Decr... ORPHA:369837
Cardiogenic Shock
Hypotension, Oliguria, Right ventricular failure, Abnormal left ventricular function, Congestive ... ORPHA:97292
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion
Thoracic hypoplasia, Umbilical hernia, Postnatal growth retardation, Overlapping toe, Large place... ORPHA:254528
Coffin-Siris Syndrome 1
Clitoral hypertrophy, Facial hypertrichosis, Dry hair, Sparse scalp hair, Postnatal growth retard... OMIM:135900
Isolated Klippel-Feil Syndrome
Abnormal shoulder morphology, Low posterior hairline, Cervical C2/C3 vertebral fusion, Sprengel a... ORPHA:2345
Thin Ribs-Tubular Bones-Dysmorphism Syndrome
Intrauterine growth retardation, Abnormal pelvic girdle bone morphology, Slender long bone, Abnor... ORPHA:1506
Thrombophilia Due To Protein S Deficiency, Autosomal Recessive
Pulmonary embolism, Cerebral hemorrhage OMIM:614514
Trichothiodystrophy 1, Photosensitive
Decreased circulating IgG level, Telangiectasia, Keratoconjunctivitis sicca, Erythroderma, Recurr... OMIM:601675
Maturity-Onset Diabetes Of The Young, Type 8, With Exocrine Dysfunction
Elevated hemoglobin A1c, Maturity-onset diabetes of the young, Hyperglycemia OMIM:609812
Hyperparathyroidism, Transient Neonatal
Thin ribs, Hyperparathyroidism, Fractured rib, Narrow chest, Metaphyseal spurs, Umbilical hernia,... OMIM:618188
Mody
Abnormal oral glucose tolerance, Glycosuria, Insulin-resistant diabetes mellitus, Hyperglycemia, ... ORPHA:552
Vaginal Atresia
Imperforate hymen, Uterus didelphys, Abnormality of the uterus, Vaginal hematocele, Transverse va... ORPHA:65681
Pulmonary Venoocclusive Disease 1, Autosomal Dominant
Abnormally loud pulmonic component of the second heart sound, Pulmonary arterial hypertension, El... OMIM:265450
49,Xxxxy Syndrome
Hip dislocation, Hypoplasia of penis, Pulmonary embolism, Elbow dislocation, Renal dysplasia, Joi... ORPHA:96264
Hallermann-Streiff Syndrome
Thin ribs, Abnormal rib cage morphology, Decreased number of sternal ossification centers, Sparse... OMIM:234100
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation
Thoracic hypoplasia, Umbilical hernia, Postnatal growth retardation, Large for gestational age, L... ORPHA:254534
Juvenile Dermatomyositis
Vasculitis, Gastrointestinal hemorrhage, Limitation of joint mobility, Cardiomyopathy, Bundle bra... ORPHA:93672
48,Xxxy Syndrome
Hip dislocation, Hypoplasia of penis, Pulmonary embolism, Elbow dislocation, Renal dysplasia, Joi... ORPHA:96263
Mucopolysaccharidosis Type 4
Pectus carinatum, Abnormal epiphysis morphology, Short thorax, Joint dislocation, Abnormal dental... ORPHA:582
Autosomal Recessive Robinow Syndrome
Toe syndactyly, Synostosis of carpal bones, Finger syndactyly, Broad thumb, Elbow dislocation, Cr... ORPHA:1507
Shwachman-Diamond Syndrome
Pneumonia, Bone marrow hypocellularity, Osteopenia, Recurrent viral infections, Sepsis, Eczematoi... ORPHA:811
Holt-Oram Syndrome
Broad thumb, Aplasia/Hypoplasia of the radius, Finger syndactyly, Absent thumb, Abnormal clavicle... ORPHA:392
Floating-Harbor Syndrome
Clinodactyly, Cryptorchidism, Broad fingertip, Dislocated radial head, Hypospadias, Short metacar... ORPHA:2044
Basal Cell Nevus Syndrome 1
Cataract, Short distal phalanx of the thumb, Abnormal sternum morphology, Ovarian carcinoma, Poly... OMIM:109400
Cockayne Syndrome Type 1
Cataract, Male hypogonadism, Foot joint contracture, Failure to thrive, Postnatal growth retardat... ORPHA:90321
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis
Hip osteoarthritis, Ankle swelling, Joint stiffness, Abnormal hip joint morphology, Abnormality o... ORPHA:85408
Dubowitz Syndrome
Decreased circulating IgG level, Eczematoid dermatitis, Hypocholesterolemia, Decreased circulatin... OMIM:223370
Pseudohypoparathyroidism Type 1C
Short fifth metatarsal, Cataract, Broad distal phalanx of the thumb, Pituitary resistance to thyr... ORPHA:79444
Generalized Pustular Psoriasis
Hypoalbuminemia, Sepsis, Congestive heart failure, Renal insufficiency, Hypocalcemia, Palmoplanta... ORPHA:247353
Robinow Syndrome, Autosomal Recessive 1
Bifid distal phalanx of toe, Small hand, Broad thumb, Clinodactyly, Radial bowing, Delayed crania... OMIM:268310
X-Linked Severe Congenital Neutropenia
Recurrent bacterial infections ORPHA:86788
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome
Radial bowing, Intrauterine growth retardation, Upslanted palpebral fissure, Tibial bowing, Lower... ORPHA:3035
Bent Bone Dysplasia Syndrome 2
Thin ribs, Hypoplastic acetabulae, Short 1st metacarpal, Short tibia, Hypoplastic iliac wing, Int... OMIM:620076
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Patchy osteosclerosis, Hyperphosphatemia, Hypocalcemia, Micropenis, Recurrent bacterial infection... OMIM:241410
Melnick-Needles Syndrome
Short distal phalanx of finger, Hip dislocation, Narrow chest, Short thorax, Delayed cranial sutu... ORPHA:2484
Diabetes Mellitus, Permanent Neonatal, 3
Hyperglycemia, Type I diabetes mellitus, Athetosis, Glycosuria OMIM:618857
Bronchiolitis Obliterans
Pneumonia, Autoimmunity, Bronchiectasis ORPHA:1303
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies
Precocious puberty, Cholelithiasis, Myopic astigmatism, Downslanted palpebral fissures, Recurrent... OMIM:301066
Camptodactyly Syndrome, Guadalajara Type 3
Symblepharon, Small hand, Broad femoral neck, Telecanthus, Thick eyebrow, Thickened cortex of lon... ORPHA:488434
Wolf-Hirschhorn Syndrome
Megalocornea, Cryptorchidism, Congenital diaphragmatic hernia, Arachnodactyly, Epicanthus, Low po... ORPHA:280
Monosomy 9Q22.3
Cataract, Downslanted palpebral fissures, Umbilical hernia, Large for gestational age, Metopic sy... ORPHA:77301
Craniosynostosis, Herrmann-Opitz Type
Finger syndactyly, Intrauterine growth retardation, Brachydactyly, Split hand, Abnormal rib morph... ORPHA:2145
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2
Inflammation of the large intestine, Chronic gastritis, Esophagitis, Skin rash, Perianal abscess,... OMIM:301074
Atrial Septal Defect, Sinus Venosus Type
Junctional ectopic tachycardia, Paradoxical splitting of the second heart sound, Atrial flutter, ... ORPHA:99105
Glycogen Storage Disease Ic
Focal segmental glomerulosclerosis, Inflammation of the large intestine, Recurrent upper respirat... OMIM:232240
Sengers Syndrome
Osteopenia, Hypertrophic cardiomyopathy, 3-Methylglutaconic aciduria, Pulmonary arterial hyperten... OMIM:212350
Neu-Laxova Syndrome 1
Joint contracture of the hand, Toe syndactyly, Finger syndactyly, Clinodactyly, Cryptorchidism, A... OMIM:256520
Monosomy 9P
Highly arched eyebrow, Abnormal rib morphology, Downslanted palpebral fissures, Abnormality of th... ORPHA:261112
Trichodermodysplasia-Dental Alterations Syndrome
Sparse lateral eyebrow, Fine hair, Abnormal morphology of female internal genitalia, Abnormal hip... ORPHA:3353
Short-Rib Thoracic Dysplasia 15 With Polydactyly
Narrow chest, Cone-shaped epiphysis, Hydrometrocolpos, Downslanted palpebral fissures, Horizontal... OMIM:617088
Campomelic Dysplasia
Thin ribs, Delayed epiphyseal ossification, Hypoplastic scapulae, Shortening of all phalanges of ... OMIM:114290
Spondyloarthropathy, Susceptibility To, 1
Aortic regurgitation, Hip osteoarthritis, Inflammation of the large intestine, Rheumatoid factor ... OMIM:106300
Mandibulofacial Dysostosis With Macroblepharon And Macrostomia
Keratitis, Downslanted palpebral fissures, Recurrent otitis media, Thick eyebrow, Long palpebral ... OMIM:602562
Kindler Epidermolysis Bullosa
Cheilitis, Inflammation of the large intestine, Atypical scarring of skin, Periodontitis, Finger ... ORPHA:2908
Meckel Syndrome 14
Postaxial foot polydactyly, Occipital encephalocele, Bowing of the long bones, Aplasia of the ute... OMIM:619879
Cooper-Jabs Syndrome
Camptodactyly of finger, Umbilical hernia, Abnormal hip bone morphology, Congenital diaphragmatic... ORPHA:1488
T-Cell Lymphoma, Subcutaneous Panniculitis-Like
Hypertriglyceridemia, Autoimmunity, Panniculitis, Increased circulating ferritin concentration OMIM:618398
Yellow Nail Syndrome
Nephropathy, Recurrent respiratory infections, Pulmonary arterial hypertension, Sinusitis, Renal ... ORPHA:662
Fryns Syndrome
Thin ribs, Joint contracture of the hand, Cryptorchidism, Blepharophimosis, Narrow palpebral fiss... OMIM:229850
Myhre Syndrome
Clinodactyly, Hypoplastic iliac wing, Overlapping toe, Cryptorchidism, Blepharophimosis, Narrow p... OMIM:139210
Fetal Akinesia Deformation Sequence 1
Thin ribs, Short palpebral fissure, Congenital contracture, Slender long bone, Thoracic hypoplasi... OMIM:208150
Trisomy X
Renal hypoplasia/aplasia, Multicystic kidney dysplasia, Autoimmunity, Joint hypermobility ORPHA:3375
Infantile Systemic Hyalinosis
Osteopenia, Camptodactyly of finger, Osteomalacia, Joint stiffness, Increased susceptibility to f... ORPHA:2176
Monosomy 18Q
Aortic valve stenosis, Congestive heart failure, Decreased circulating IgA level, Mitral regurgit... ORPHA:1600
Cartilage-Hair Hypoplasia
Small hand, Bowing of the long bones, Epicanthus, Diaphyseal undertubulation, Metaphyseal dysplas... ORPHA:175
Chromomycosis
Keratitis, Recurrent bacterial infections, Keratoconjunctivitis sicca, Ankylosis, Osteolysis ORPHA:182
Imperforate Oropharynx-Costovertebral Anomalies Syndrome
Downslanted palpebral fissures, Arachnodactyly, Epicanthus, Missing ribs, Abnormal rib morphology... ORPHA:2759
Otopalatodigital Syndrome, Type Ii
Broad thumb, Toe syndactyly, Radial bowing, Rudimentary fibula, Postnatal growth retardation, Ove... OMIM:304120
Smith-Lemli-Opitz Syndrome
Clitoral hypertrophy, Postaxial foot polydactyly, Finger syndactyly, Cryptorchidism, Congenital d... ORPHA:818
Say-Barber-Miller Syndrome
Decreased circulating IgG level, Eczematoid dermatitis, Patellar hypoplasia, Elbow flexion contra... ORPHA:3132
Chediak-Higashi Syndrome
Periodontitis, Spontaneous, recurrent epistaxis, Recurrent systemic pyogenic infections, Recurren... OMIM:214500
Yunis-Varon Syndrome
Clitoral hypertrophy, Aplasia of the distal phalanx of the hallux, Postnatal growth retardation, ... ORPHA:3472
Keutel Syndrome
Recurrent otitis media, Recurrent respiratory infections, Pulmonary arterial hypertension, Recurr... ORPHA:85202
Catel-Manzke Syndrome
Ulnar deviation of the 2nd finger, Postnatal growth retardation, Genu valgum, Cryptorchidism, Sho... OMIM:616145
Townes-Brocks Syndrome
Toe syndactyly, Broad thumb, Abnormal vagina morphology, Cryptorchidism, Blepharophimosis, Rectop... ORPHA:857
Dermatomyositis
Anti-transcription intermediary factor-1gamma antibody positivity, Arrhythmia, Anti-nuclear matri... ORPHA:221
Cysticercosis
Stiff neck, Infectious encephalitis, Increased circulating antibody level, Iridocyclitis, Increas... ORPHA:1560
Van Den Ende-Gupta Syndrome
Thin ribs, Hypoplastic scapulae, Long metacarpals, Joint contracture of the hand, Long hallux, Ar... OMIM:600920
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Parathyroid hypoplasia, Uterus didelphys, Septate vagina, Psoriasiform dermatitis, Hypoparathyroi... ORPHA:2237
Trichinellosis
Increased circulating IgE level, Skin rash, Meningitis, Retinal hemorrhage, Conjunctivitis ORPHA:863
Klippel-Trénaunay Syndrome
Gastrointestinal hemorrhage, Pulmonary embolism, Congestive heart failure, Hematuria, Internal he... ORPHA:90308
Noonan Syndrome 1
Clinodactyly, Postnatal growth retardation, Cryptorchidism, Low posterior hairline, Epicanthus, S... OMIM:163950
Pituitary Deficiency Due To Empty Sella Turcica Syndrome
Hyponatremia, Hypotension, Autoimmunity ORPHA:91354
Fibrous Dysplasia Of Bone
Precocious puberty in females, Abnormal clavicle morphology, Abnormal rib morphology, Abnormal ti... ORPHA:249
Tarp Syndrome
Short palpebral fissure, Finger syndactyly, Clinodactyly, Hypoplasia of proximal radius, Failure ... ORPHA:2886
Autoimmune Hemolytic Anemia, Warm Type
Abnormal urinary color, Congestive heart failure, Systemic lupus erythematosus, Autoimmunity, Aut... ORPHA:90033
Sarcoidosis, Susceptibility To, 1
Inflammation of the large intestine, Abnormality of T cell physiology, Increased circulating anti... OMIM:181000
Coronary Arterial Fistula
Aortic valve stenosis, Bacterial endocarditis, Continuous heart murmur, Congestive heart failure,... ORPHA:2041
Congenital Gerbode Defect
Bacterial endocarditis, Elevated right atrial pressure, Ankle swelling, Right ventricular failure... ORPHA:99095
Mgat2-Cdg
Decreased circulating IgG level, Decreased lymphocyte proliferation in response to mitogen, Osteo... ORPHA:79329
Localized Scleroderma
Vasculitis, Fasciitis, Sclerosis of finger phalanx, Esophagitis, Autoimmunity, Hashimoto thyroidi... ORPHA:90289
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures
Epiphyseal dysplasia, Sparse scalp hair, Radial bowing, Carpal synostosis, Genu valgum, Decreased... OMIM:271640
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Thin ribs, Postnatal growth retardation, Overlapping toe, Contracture of the distal interphalange... ORPHA:83617
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Narrow chest, Short tibia, Uterus didelphys, Preaxial polydactyly, Septate vagina, Absent gallbla... OMIM:617925
Poems Syndrome
Sclerosis of foot bone, Sclerosis of hand bone, Sclerosis of skull base, Increased circulating an... ORPHA:2905
Cole-Carpenter Syndrome
Downslanted palpebral fissures, Abnormal dental enamel morphology, Intrauterine growth retardatio... ORPHA:2050
Ulbright-Hodes Syndrome
Abnormal penis morphology, Thin ribs, Clitoral hypertrophy, Abnormal forearm bone morphology, Pos... ORPHA:3404
Okur-Chung Neurodevelopmental Syndrome
Decreased circulating IgG level, Decreased circulating IgA level, Decreased circulating antibody ... OMIM:617062
Crouzon Syndrome
Lambdoidal craniosynostosis, Coronal craniosynostosis, Keratitis, Shallow orbits, Sagittal cranio... OMIM:123500
De Sanctis-Cacchione Syndrome
Severe short stature, Keratitis, Bilateral cryptorchidism, Entropion, Bilateral coxa valga, Ectro... OMIM:278800
Medullary cystic kidney disease 2
Enuresis, Multiple small medullary renal cysts, Stage 5 chronic kidney disease, Gout, Hyperuricem... OMIM:603860
Alopecia Totalis
Inflammation of the large intestine, Autoimmunity ORPHA:700
Fanconi Anemia, Complementation Group L
Absent thumb, Intrauterine growth retardation, Upslanted palpebral fissure, Aplasia of the uterus... OMIM:614083
Norrie Disease
Cataract, Ectopia lentis, Uterine rupture, Failure to thrive, Hypoplasia of the iris, Abnormal pu... ORPHA:649
Intrahepatic Cholestasis Of Pregnancy
Abnormal circulating interleukin concentration, Hyperbilirubinemia, Cholecystitis, Increased seru... ORPHA:69665
Charge Syndrome
Abnormal tibia morphology, Postnatal growth retardation, Cryptorchidism, Epicanthus, Micropenis, ... ORPHA:138
Pseudohypoparathyroidism Type 1A
Short metacarpal, Cataract, Broad distal phalanx of the thumb, Short 3rd metacarpal, Decreased re... ORPHA:79443
Adiposis Dolorosa
Telangiectasia of the skin, Recurrent skin infections, Autoimmunity, Arthritis ORPHA:36397
Idiopathic Pulmonary Arterial Hypertension
Ankle swelling, Congestive heart failure, Tricuspid regurgitation, Palpitations, Increased pulmon... ORPHA:275766
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2
Conjunctival telangiectasia, Elevated circulating alpha-fetoprotein concentration, Elevated circu... OMIM:606002
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome
Sandal gap, Abnormal dental enamel morphology, Obesity, Sprengel anomaly, Brachydactyly, Abnormal... ORPHA:2180
Sickle Cell Disease
Splenic infarction, Increased red cell sickling tendency, Leukocytosis, Splenomegaly, Retinopathy... OMIM:603903
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2
Bidirectional shunt, Renal cortical hyperechogenicity, Anuria, Megacystis, Pyelonephritis, Perito... OMIM:619351
Pontocerebellar Hypoplasia Type 7
Clitoral hypertrophy, Microphallus, Gonadal dysgenesis, Cryptorchidism, Upslanted palpebral fissu... ORPHA:284339
Idiopathic/Heritable Pulmonary Arterial Hypertension
Tricuspid regurgitation, Abnormal cardiovascular system physiology, Palpitations, Syncope, Pulmon... ORPHA:422
Pediatric-Onset Graves Disease
Keratitis, Sinus tachycardia, Congestive heart failure, Autoimmunity, Episcleritis, Palpitations,... ORPHA:525731
Femoral-Facial Syndrome
Toe syndactyly, Cryptorchidism, Humeroradial synostosis, Encephalocele, Limited elbow movement, R... OMIM:134780
Mild Phosphoribosylpyrophosphate Synthetase Superactivity
Acute kidney injury, Stage 4 chronic kidney disease, Renal insufficiency, Hyperuricemia, Hyperuri... ORPHA:411536
Rat-Bite Fever
Sepsis, Lymphadenitis, Parotitis, Morbilliform rash, Skin rash, Pustule, Myocarditis, Oligoarthri... ORPHA:31205
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Polysyndactyly of hallux, Pectus carinatum, Narrow chest, Postaxial polysyndactyly of foot, Preax... OMIM:263520
Antley-Bixler Syndrome
Narrow chest, Camptodactyly of finger, Downslanted palpebral fissures, Delayed cranial suture clo... ORPHA:83
Wiedemann-Rautenstrauch Syndrome
Thin ribs, Clinodactyly, Cryptorchidism, Reduced subcutaneous adipose tissue, Sparse eyelashes, A... OMIM:264090
Hurler Syndrome
Abnormal epiphysis morphology, Abnormal clavicle morphology, Abnormal diaphysis morphology, Campt... ORPHA:93473
Lethal Congenital Contracture Syndrome Type 1
Slender long bone, Abnormal hip bone morphology, Abnormal rib morphology, Short stature, Abnormal... ORPHA:1486
Pierre Robin Sequence With Pectus Excavatum And Rib And Scapular Anomalies
Pectus excavatum, Hypoplastic distal segments of scapulae, Abnormal rib morphology OMIM:602196
Aicardi Syndrome
Precocious puberty, Cataract, Recurrent pneumonia, Block vertebrae, Sparse lateral eyebrow, Postn... OMIM:304050
1P36 Deletion Syndrome
Delayed cranial suture closure, Abnormal female external genitalia morphology, Cryptorchidism, Ge... ORPHA:1606
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Chronic kidney disease, Hyperechogenic kidneys, Hypomagnesemia, Hyperuricemia, Proteinuria, Hypon... OMIM:613845
Ehlers-Danlos Syndrome, Periodontal Type, 1
Joint dislocation, Periodontitis, Autoimmunity, Joint hypermobility, Generalized joint hypermobil... OMIM:130080
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Dilated cardiomyopathy, Ketonuria, Methylmalonic aciduria, Elevated circulating palmitoleylcarnit... ORPHA:79282
Oculocerebrorenal Syndrome Of Lowe
Lentiglobus, Periodontitis, Genu valgum, Cryptorchidism, Patellar dislocation, Chronic otitis med... ORPHA:534
Hurler-Scheie Syndrome
Aortic regurgitation, Camptodactyly of finger, Heparan sulfate excretion in urine, Joint stiffnes... OMIM:607015
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Hypoplastic iliac wing, Foot polydactyly, Bile duct proliferation, Cone-shaped epiphyses of the p... OMIM:208500
Ehlers-Danlos Syndrome, Vascular Type
Foot acroosteolysis, Keratoconus, Periodontitis, Uterine rupture, Cigarette-paper scars, Cystocel... OMIM:130050
Pulmonary Hypertension, Primary, 4
Pulmonary arterial hypertension with lack of acute response to NO challenge, Atrial flutter, Incr... OMIM:615344
Severe Hereditary Thrombophilia Due To Congenital Protein C Deficiency
Pulmonary embolism ORPHA:745
Von Hippel-Lindau Syndrome
Retinal capillary hemangioma, Pancreatic cysts, Pheochromocytoma, Epididymal cyst, Papillary cyst... OMIM:193300
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome
Cellulitis, Uveitis, Erysipelas, Fasciitis, Skin rash, Orchitis, Myositis, Peritonitis, Abnormal ... ORPHA:32960
Okamoto Syndrome
Facial hypertrichosis, Hypertrichosis, Extension of hair growth on temples to lateral eyebrow, As... ORPHA:2729
Pulmonary Venoocclusive Disease 2, Autosomal Recessive
Pulmonary arterial hypertension OMIM:234810
Acute Adrenal Insufficiency
Hypotension, Recurrent acute respiratory tract infection, Autoimmunity, Renal insufficiency, Hype... ORPHA:95409
Pallister-Hall Syndrome
Small scrotum, Toe syndactyly, Broad thumb, Radial bowing, Hydrometrocolpos, Polydactyly affectin... ORPHA:672
Townes-Brocks Syndrome 1
Broad thumb, Cryptorchidism, Pseudoepiphyses of second metacarpal, Rectoperineal fistula, Rectova... OMIM:107480
Simpson-Golabi-Behmel Syndrome
Toe syndactyly, Broad thumb, Finger syndactyly, Supernumerary nipple, Cryptorchidism, Congenital ... ORPHA:373
Kyphomelic Dysplasia
Disproportionate short stature, Radial bowing, Flared metaphysis, Thoracic hypoplasia, Lateral cl... OMIM:211350
Mitochondrial Complex Iv Deficiency, Nuclear Type 20
Hyperprolinemia, Pulmonary arterial hypertension, Hyperalaninemia OMIM:619064
Severe Hereditary Thrombophilia Due To Congenital Protein S Deficiency
Pulmonary embolism ORPHA:743
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Homocystinuria, Methylmalonic aciduria, Elevated circulating propionylcarnitine concentration, Hy... OMIM:614857
Mitochondrial Complex Iv Deficiency, Nuclear Type 7
Hypertrophic cardiomyopathy, Tricuspid regurgitation, Hyperammonemia, Pulmonary arterial hyperten... OMIM:619051
Lethal Omphalocele-Cleft Palate Syndrome
Bifid uterus, Omphalocele ORPHA:2736
Angioedema, Hereditary, 1
Decreased circulating complement C4 concentration, Decreased circulating C1-esterase inhibitor co... OMIM:106100
Fraser Syndrome
Small scrotum, Toe syndactyly, Abnormal vagina morphology, Finger syndactyly, Female pseudohermap... ORPHA:2052
Autoimmune Polyendocrinopathy Type 1
Autoimmunity, Chronic mucocutaneous candidiasis ORPHA:3453
Pallister-Killian Syndrome
Small scrotum, Small hand, Postaxial foot polydactyly, Sparse scalp hair, Supernumerary nipple, D... OMIM:601803
Townes-Brocks Syndrome 2
Bifid uterus, Spina bifida occulta, Rectovaginal fistula, Hypospadias OMIM:617466
Dermatitis Herpetiformis
Recurrent fractures, Autoimmunity, Eczematoid dermatitis ORPHA:1656
Congenital Disorder Of Glycosylation, Type It
Aborted sudden cardiac death, Dilated cardiomyopathy, Hepatitis, Recurrent otitis media, Elevated... OMIM:614921
Spondylometaphyseal Dysplasia, Sedaghatian Type
Delayed epiphyseal ossification, Widened greater sciatic notch, Horizontal inferior border of sca... OMIM:250220
Familial Multiple Nevi Flammei
Arrhythmia, Pulmonary embolism, Intracranial hemorrhage ORPHA:624
Familial Hypocalciuric Hypercalcemia
Renal hypophosphatemia, Hypermagnesemia, Chondrocalcinosis, Hypocalciuria, Hypomagnesiuria, Osteo... ORPHA:405
Lacrimoauriculodentodigital Syndrome 1
Bilateral triphalangeal thumbs, Lacrimal gland hypoplasia, Limbal stem cell deficiency, Absence o... OMIM:149730
Generalized Eruptive Keratoacanthoma
Ectropion, Conjunctivitis, Keratoconjunctivitis sicca, Abnormal cornea morphology ORPHA:411777
X-Linked Hypophosphatemia
Cellulitis, Genu valgum, Bowing of the long bones, Genu varum, Disproportionate short stature, Ar... ORPHA:89936
Dextrocardia
Abnormal reproductive system morphology, Congenital hip dislocation, Pancreatic hypoplasia, Abnor... ORPHA:1666
Sarcoidosis
Alopecia, Leukopenia, Increased T cell count, Anemia, Eosinophilia, Thrombocytopenia, Hepatomegal... ORPHA:797
Cushing Disease
Lymphopenia, Optic nerve compression, Leukocytosis, Hirsutism, Impaired glucose tolerance, Decrea... ORPHA:96253
Felty Syndrome
Rheumatoid arthritis OMIM:134750
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome
Short distal phalanx of finger, Short thumb, Preaxial hand polydactyly, Abnormal thumb morphology... ORPHA:1120
Restrictive Dermopathy
Thin ribs, Increased anterioposterior diameter of thorax, Large placenta, Thoracic kyphoscoliosis... ORPHA:1662
Atrial Septal Defect, Ostium Primum Type
Atrial fibrillation, Fixed splitting of the second heart sound, Atrioventricular block, Atrial fl... ORPHA:99106
Arboleda-Tham Syndrome
Enlarged proximal interphalangeal joints, Recurrent otitis media, Genu valgum, Epicanthus, Short ... OMIM:616268
Cardiospondylocarpofacial Syndrome
Cone-shaped epiphysis, Failure to thrive, Carpal synostosis, Recurrent otitis media, Decreased te... OMIM:157800
Eisenmenger Syndrome
Abnormal circulating B-type natriuretic peptide concentration, Elevated jugular venous pressure, ... ORPHA:97214
Carney Complex
Euthyroid multinodular goiter, Increased circulating prolactin concentration, Ovarian cyst, Incre... ORPHA:1359
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Hypoalbuminemia, Second degree atrioventricular block, Hematuria, Pulmonary arterial hypertension... OMIM:617021
Viss Syndrome
Atopic dermatitis, Eczematoid dermatitis, Increased circulating IgE level, Recurrent joint disloc... OMIM:619472
Klippel-Feil Syndrome 1, Autosomal Dominant
Low posterior hairline, Cervical C2/C3 vertebral fusion, Sprengel anomaly, Abnormal limb bone mor... OMIM:118100
Loeys-Dietz Syndrome
Pectus carinatum, Atypical scarring of skin, Joint dislocation, Uterine rupture, Camptodactyly of... ORPHA:60030
Pulmonary Edema Of Mountaineers, Susceptibility To
Elevated pulmonary artery pressure OMIM:178400
Symptomatic Form Of Fragile X Syndrome In Female Carriers
Recurrent otitis media, Autoimmunity, Hypertension, Joint hypermobility ORPHA:449291
Familial Chylomicronemia Syndrome
Pulmonary embolism, Increased circulating chylomicron concentration, Hyperlipidemia, Perianal abs... ORPHA:444490
Congenital Disorder Of Glycosylation, Type Iiw
Moderate albuminuria, Recurrent otitis media, Membranoproliferative glomerulonephritis, Osteoporo... OMIM:619525
Toxic Epidermal Necrolysis
Abnormal vagina morphology, Entropion, Pancreatitis, Weight loss, Conjunctivitis, Corneal erosion ORPHA:537
Lymphedema And Cerebral Arteriovenous Anomaly
Pulmonary arterial hypertension OMIM:152900
ERI1-related disease
Osteopenia, Tricuspid regurgitation, Limited elbow extension, Vesicoureteral reflux, Hydronephros... OMIM:608739
Hemangiomas, Cavernous, Of Face And Supraumbilical Midline Raphe
Bifid sternum, Supraumbilical raphe OMIM:140850
Cardiac-Urogenital Syndrome
Bifid scrotum, Cryptorchidism, Congenital diaphragmatic hernia, 2-3 toe syndactyly, Aplasia of th... OMIM:618280
Multiple Mitochondrial Dysfunctions Syndrome 1
Increased urine alpha-ketoglutarate concentration, Hyperglycinuria, Alpha-aminoadipic aciduria, H... OMIM:605711
Coenzyme Q10 Deficiency, Primary, 2
Aortic regurgitation, Pulmonary arterial hypertension, Mitral regurgitation OMIM:614651
Hydrolethalus Syndrome 1
Abnormal vagina morphology, Preaxial hand polydactyly, Upper limb undergrowth, Intrauterine growt... OMIM:236680
Roberts-Sc Phocomelia Syndrome
Clitoral hypertrophy, Clinodactyly, Postnatal growth retardation, Enlarged labia minora, Cryptorc... OMIM:268300
Nodular Non-Suppurative Panniculitis
Inflammatory abnormality of the eye, Autoimmunity, Panniculitis ORPHA:33577
Acute Transverse Myelitis
Severe viral infection, Urinary retention, Systemic lupus erythematosus, Invasive parasitic infec... ORPHA:139417
Craniorachischisis
Bifid sternum, Spinal dysraphism, Myelomeningocele, Sirenomelia, Cervical spina bifida, Congenita... ORPHA:63260
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome
Epistaxis, Second degree atrioventricular block, Nephrolithiasis, Hypokalemia, Pulmonary arterial... ORPHA:369929
Vascular Ehlers-Danlos Syndrome
Keratoconus, Periodontitis, Uterine rupture, Cryptorchidism, Epicanthus, Sprengel anomaly, Hyposp... ORPHA:286
Aicardi-Goutières Syndrome
Increased circulating interferon-gamma concentration, Hypertrophic cardiomyopathy, Autoimmunity, ... ORPHA:51
Cold Agglutinin Disease
Autoimmunity, Abnormal urinary color ORPHA:56425
Congenital Pulmonary Lymphangiectasia
Tricuspid regurgitation, Pulmonary arterial hypertension, Pulmonic stenosis, Congestive heart fai... ORPHA:2414
Transketolase Deficiency
Cataract, Proportionate short stature, Seborrheic dermatitis, Conjunctivitis, Secondary amenorrhe... ORPHA:488618
Achalasia, Familial Esophageal
Rheumatoid arthritis, Keratoconjunctivitis sicca OMIM:200400
Meconium Aspiration Syndrome
Pulmonary insufficiency, Pulmonary arterial hypertension, Abnormal heart rate variability, Aspira... ORPHA:70588
Vater/Vacterl Association
Occipital encephalocele, Short thumb, Abnormal rib morphology, Preaxial polydactyly, Abnormal ste... OMIM:192350
Sarcoidosis, Susceptibility To, 2
Pulmonary arterial hypertension, Bronchiectasis, Erythema nodosum, Uveitis OMIM:612387
Charge Syndrome
Postnatal growth retardation, Cryptorchidism, Radial head subluxation, Absent radius, Hypoparathy... OMIM:214800
Monosomy 18P
Autoimmunity, Hypertension ORPHA:1598
Polycythemia Vera
Epistaxis, Gastrointestinal hemorrhage, Pulmonary embolism, Budd-Chiari syndrome, Portal hyperten... ORPHA:729
Pemphigus Foliaceus
Autoimmunity, Psoriasiform dermatitis, Crusting erythematous dermatitis, Pustule, Erythroderma ORPHA:79481
Linear Skin Defects With Multiple Congenital Anomalies 2
Pulmonary arterial hypertension OMIM:300887
Osteogenesis Imperfecta, Type Iii
Bowing of limbs due to multiple fractures, Decreased calvarial ossification, Wormian bones, Sever... OMIM:259420
Adult Syndrome
Sparse scalp hair, Toe syndactyly, Absent nipple, Fair hair, Eczematoid dermatitis, Breast hypopl... OMIM:103285
Cryptococcosis
Pneumonia, Sepsis, Systemic lupus erythematosus, Osteomyelitis, Autoimmunity, Peritonitis, Prosta... ORPHA:1546
Osteogenesis Imperfecta
Thin ribs, Abnormal tibia morphology, Genu valgum, Bowing of the long bones, Diaphyseal undertubu... ORPHA:666
Von Hippel-Lindau Disease
Retinal capillary hemangioma, Pancreatic islet cell adenoma, Adrenal pheochromocytoma, Myocarditi... ORPHA:892
Otofaciocervical Syndrome 2, With T-Cell Deficiency
Clinodactyly, Periorbital dermoid cyst, Down-sloping shoulders, Scapular winging, Conjunctivitis,... OMIM:615560
Spondyloepimetaphyseal Dysplasia, Sponastrime Type
Decreased circulating IgG level, Osteopenia, Genu valgum, Limited elbow extension, Laryngotracheo... OMIM:271510
Autosomal Dominant Dopa-Responsive Dystonia
Hypertension, Rheumatoid arthritis, Progressive flexion contractures, Transient hyperphenylalanin... ORPHA:98808
Methylmalonic Aciduria And Homocystinuria, Cblc Type
Nephropathy, Homocystinuria, Acute kidney injury, Cystathioninemia, Hypotension, Methylmalonic ac... OMIM:277400
Mucopolysaccharidosis Type 3
Cataract, Coarse hair, Abnormal clavicle morphology, Abnormal rib morphology, Aspiration pneumoni... ORPHA:581
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type
Delayed epiphyseal ossification, Wormian bones, Pulmonary arterial hypertension, Flat acetabular ... OMIM:613320
19P13.3 Microduplication Syndrome
Osteoporosis, Hip subluxation, Pulmonary arterial hypertension, Hip dislocation ORPHA:447980
Cirrhosis, Familial
Increased level of L-fucose in urine, Pulmonary arterial hypertension, Increased level of propyle... OMIM:215600
Laryngotracheoesophageal Cleft Type 4
Cachexia, Abnormal rib morphology ORPHA:93941
Paroxysmal Nocturnal Hemoglobinuria
Chronic kidney disease, Decreased circulating iron concentration, Acute kidney injury, Pulmonary ... ORPHA:447
Hereditary Hemorrhagic Telangiectasia
Nasal mucosa telangiectasia, Hematuria, Telangiectasia, Retinal telangiectasia, Gastrointestinal ... ORPHA:774
Spondylometaphyseal Dysplasia, Sedaghatian Type
Narrow chest, Cone-shaped epiphysis, Disproportionate short stature, Abnormal scapula morphology,... ORPHA:93317
Total Anomalous Pulmonary Venous Return 1
Recurrent respiratory infections, Pulmonary arterial hypertension OMIM:106700
Dehydrated Hereditary Stomatocytosis
Neonatal hyperbilirubinemia, Increased total bilirubin, Increased circulating ferritin concentrat... ORPHA:3202
Glossopharyngeal Neuralgia
Jaw claudication, Syncope, Autoimmunity, Bradycardia ORPHA:221098
Spondyloepimetaphyseal Dysplasia, Guo-Campeau Type
Osteopenia, Tricuspid regurgitation, Limited elbow extension, Vesicoureteral reflux, Hydronephros... OMIM:620663
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Decreased circulating IgG level, Recurrent infections, Unconjugated hyperbilirubinemia, Recurrent... OMIM:618278
Patent Urachus
Recurrent urinary tract infections, Cystocele, Recurrent gram-negative bacterial infections, Pate... ORPHA:431341
Pulmonary Hypertension, Primary, 3
Elevated pulmonary artery pressure, Pulmonary arterial hypertension, Increased pulmonary vascular... OMIM:615343
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy
Cardiomyopathy, Reduced left ventricular ejection fraction, Myositis, Arrhythmia, Pulmonary arter... ORPHA:258
Nestor-Guillermo Progeria Syndrome
Sinus tachycardia, Pathologic fracture, Joint stiffness, Mandibular osteolysis, Mitral regurgitat... OMIM:614008
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency
Gastrointestinal hemorrhage, Pulmonary embolism, Joint stiffness, Genu valgum, Cerebral ischemia,... ORPHA:394
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum
Abnormal penis morphology, Symblepharon, Trichiasis, Inflammatory abnormality of the skin, Kerati... ORPHA:95455
Sickle Cell Anemia
Unconjugated hyperbilirubinemia, Osteomyelitis, Elevated circulating creatinine concentration, Is... ORPHA:232
Stiff-Person Syndrome
Tachycardia, Autoimmunity, Hypertension OMIM:184850
Beta-Thalassemia Intermedia
Osteopenia, Abnormality of iron homeostasis, Proximal tubulopathy, Increased susceptibility to fr... ORPHA:231222
Primary Aldosteronism, Seizures, And Neurologic Abnormalities
Second degree atrioventricular block, Decreased circulating renin level, Hypokalemia, Nephrolithi... OMIM:615474
Hereditary Sensory And Autonomic Neuropathy Type 4
Chronic kidney disease, Abnormality of humoral immunity, Abnormality of the ankle, Painless fract... ORPHA:642
X-Linked Intellectual Disability, Nascimento Type
Neonatal hyperbilirubinemia, Vesicoureteral reflux, Mitral stenosis, Pulmonary arterial hypertens... ORPHA:163956
Alström Syndrome
Chronic kidney disease, Glomerulonephritis, Urinary incontinence, Abnormal coronary artery physio... ORPHA:64
Pulmonary Hypertension, Primary, 5
Angina pectoris, Pulmonary arterial hypertension, Syncope, Right ventricular failure OMIM:265400
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans
Brain abscess, Congestive heart failure, Recurrent otitis media, Pulmonary arterial hypertension,... OMIM:616482
Basel-Vanagaite-Smirin-Yosef Syndrome
Hydronephrosis, Recurrent pneumonia, Pulmonary arterial hypertension, Hypospadias OMIM:616449
Campomelia, Cumming Type
Clubbing of toes, Abnormal thorax morphology, Bowing of the long bones, Brachydactyly, Abnormal r... ORPHA:1318
Blau Syndrome
Posterior uveitis, Nephropathy, Limitation of joint mobility, Keratitis, Polyarticular arthritis,... ORPHA:90340
Surfactant Metabolism Dysfunction, Pulmonary, 2
Recurrent pneumonia, Intraalveolar phospholipid accumulation, Interstitial pneumonitis, Nonspecif... OMIM:610913
Braddock Syndrome
Unilateral renal agenesis, Pulmonary arterial hypertension ORPHA:52047
Cardiomyopathy, Dilated, 2D
Dilated cardiomyopathy, Cardiogenic shock, Tricuspid regurgitation, Reduced left ventricular ejec... OMIM:619371
Craniofaciofrontodigital Syndrome
Aortic valve stenosis, Osteopenia, Gastrointestinal hemorrhage, Congestive heart failure, Mitral ... ORPHA:363705
Mucopolysaccharidosis, Type Vi
Pneumonia, Recurrent upper respiratory tract infections, Hypoplastic acetabulae, Sinus tachycardi... OMIM:253200
Aregenerative Anemia
Bone marrow hypocellularity, Abnormal circulating interleukin concentration ORPHA:101096
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea
Recurrent otitis media, Tricuspid regurgitation, Pulmonary arterial hypertension, Recurrent lower... OMIM:620233
Holzgreve Syndrome
Intrauterine growth retardation, Abnormal morphology of ulna, Hand polydactyly, Abnormal metacarp... ORPHA:2167
Thoracic Outlet Syndrome
Abnormal rib morphology ORPHA:97330
Combined Immunodeficiency-Enteropathy Spectrum
Hepatitis, Psoriasiform dermatitis, Autoimmunity, Autoimmune hemolytic anemia, Hashimoto thyroidi... ORPHA:436252
Familial Osteodysplasia, Anderson Type
Aplastic clavicle, Bifid femur, Elbow dislocation, Thick eyebrow, Missing ribs, Abnormal rib morp... ORPHA:2769
Tetrasomy 5P
Heart murmur, Recurrent respiratory infections, Pulmonary arterial hypertension, Congestive heart... ORPHA:3309
Overhydrated Hereditary Stomatocytosis
Hyperbilirubinemia, Pulmonary embolism OMIM:185000
Neonatal Acute Respiratory Distress Due To Sp-B Deficiency
Pulmonary arterial hypertension, Interstitial pneumonitis, Intraalveolar phospholipid accumulation ORPHA:217563
Isolated Congenital Alacrima
Keratitis, Lacrimal gland hypoplasia, Lacrimal punctal atresia, Distichiasis, Ptosis, Conjunctivi... ORPHA:91416
Melas
Nephropathy, Focal segmental glomerulosclerosis, Proximal tubulopathy, Dilated cardiomyopathy, Ca... ORPHA:550
Ciliary Dyskinesia, Primary, 53
Recurrent pneumonia, Pulmonary arterial hypertension, Chronic sinusitis OMIM:620642
15Q Overgrowth Syndrome
Ureterovesical stenosis, Contracture of the proximal interphalangeal joint of the 2nd finger, Hor... ORPHA:314585
Atrial Septal Defect 9
Pulmonary arterial hypertension OMIM:614475
22Q11.2 Deletion Syndrome
Hypospadias, Renal hypoplasia, Gastrointestinal hemorrhage, Hypertensive crisis, Impaired T cell ... ORPHA:567
Intellectual Developmental Disorder, Autosomal Dominant 52
Pectus carinatum, Bilateral cryptorchidism, Cryptorchidism, Astigmatism, Low anterior hairline, C... OMIM:617796
Addison Disease
Hypotension, Autoimmunity, Hyperuricemia, Hashimoto thyroiditis, Hyponatremia, Decreased urinary ... ORPHA:85138
Fg Syndrome Type 1
Limited elbow extension and supination, Generalized joint hypermobility, Pulmonary arterial hyper... ORPHA:93932
Gaucher Disease, Type I
Aortic valve stenosis, Epistaxis, Pathologic fracture, Mitral regurgitation, Pulmonary arterial h... OMIM:230800
Loeys-Dietz Syndrome 6
Hip osteoarthritis, Transient ischemic attack, Autoimmunity, Osteochondritis dissecans, Intervert... OMIM:619656
Stuve-Wiedemann Syndrome 1
Talipes valgus, Pathologic fracture, Elbow flexion contracture, Knee flexion contracture, Contrac... OMIM:601559
Mitochondrial Complex I Deficiency, Nuclear Type 37
Pulmonary arterial hypertension, Hypospadias, Bradycardia OMIM:619272
Pulmonary Hypertension, Primary, 1
Elevated right atrial pressure, Right ventricular failure, Increased pulmonary vascular resistanc... OMIM:178600
Developmental Delay With Or Without Dysmorphic Facies And Autism
Renal hypoplasia, Microphallus, Vesicoureteral reflux, Hydronephrosis, Renal cyst, Pulmonary arte... OMIM:618454
Brain-Lung-Thyroid Syndrome
Recurrent pneumonia, Megacystis, Vesicoureteral reflux, Pulmonary arterial hypertension, Recurren... ORPHA:209905
Osteopetrosis With Renal Tubular Acidosis
Bone marrow hypocellularity, Distal renal tubular acidosis, Renal tubular acidosis, Hypocalcemia,... ORPHA:2785
Synaptic Congenital Myasthenic Syndromes
Abnormality of the knee, Limited wrist extension, Recurrent lower respiratory tract infections, P... ORPHA:98915
Tetrasomy 9P
Joint dislocation, Systemic lupus erythematosus, Recurrent urinary tract infections, Horseshoe ki... ORPHA:3310
Basel-Vanagaite-Smirin-Yosef Syndrome
Recurrent pneumonia, Male urethral meatus stenosis, Contracture of the proximal interphalangeal j... ORPHA:464738
Alagille Syndrome 1
Short distal phalanx of finger, Microcornea, Cataract, Band keratopathy, Failure to thrive, Upsla... OMIM:118450
Autosomal Recessive Malignant Osteopetrosis
Otitis media, Hypocalcemia, Chronic rhinitis, Hypophosphatemia, Osteopetrosis, Pulmonary arterial... ORPHA:667
Hughes-Stovin Syndrome
Vasculitis, Pulmonary arterial hypertension, Pulmonary embolism ORPHA:228116
Reactive Arthritis
Inflammation of the large intestine, Osteomyelitis, Recurrent aphthous stomatitis, Joint swelling... ORPHA:29207
Melnick-Needles Syndrome
Ureteral stenosis, Delayed cranial suture closure, Recurrent otitis media, Genu valgum, Limited e... OMIM:309350
Pulmonary Capillary Hemangiomatosis
Diffuse alveolar hemorrhage, Elevated pulmonary artery pressure, Right ventricular failure, Hemot... ORPHA:199241
Absence Of The Pulmonary Artery
Recurrent pneumonia, Atrial flutter, Congestive heart failure, Abnormal EKG, Reduced left ventric... ORPHA:980
Pulmonary Hypertension, Primary, 2
Abnormally loud pulmonic component of the second heart sound, Pulmonary arterial hypertension, In... OMIM:615342
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Decreased circulating IgG level, Unilateral renal agenesis, Horseshoe kidney, Transient ischemic ... ORPHA:500150
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations
Aortic valve stenosis, Elbow dislocation, Genu valgum, Mitral regurgitation, Dislocated radial he... OMIM:143095
Pulmonary Alveolar Microlithiasis
Calcium nephrolithiasis, Right ventricular failure, Stippled calcification in carpal bones, Incre... ORPHA:60025
Congenital Tricuspid Stenosis
Hypotension, Congestive heart failure, Tricuspid regurgitation, Pulmonary arterial hypertension, ... ORPHA:95459
Kagami-Ogata Syndrome
Flexion contracture, Pulmonary arterial hypertension, Pulmonic stenosis OMIM:608149
Ciliary Dyskinesia, Primary, 20
Aortic valve stenosis, Recurrent pneumonia, Recurrent otitis media, Recurrent sinusitis, Pulmonar... OMIM:615067
Ogden Syndrome
Congenital hip dislocation, Eczematoid dermatitis, Delayed cranial suture closure, Recurrent otit... OMIM:300855
Cushing Syndrome Due To Ectopic Acth Secretion
Lymphopenia, Leukocytosis, Hirsutism, Impaired glucose tolerance, Decreased eosinophil count, Dia... ORPHA:99889
Radio-Renal Syndrome
Severe short stature, Hypoplasia of the radius, Brachydactyly, Abnormal rib morphology, Short pal... ORPHA:3015
Erythrocytosis, Familial, 2
Hypotension, Pulmonary arterial hypertension, Cerebral hemorrhage OMIM:263400
Degcags Syndrome
Pneumonia, Osteopenia, Recurrent infections, Renal hypoplasia, Chronic kidney disease, Tracheomal... OMIM:619488
Histiocytosis-Lymphadenopathy Plus Syndrome
Camptodactyly of finger, Elbow flexion contracture, Facial telangiectasia, Episcleritis, Joint co... OMIM:602782
3Q29 Microdeletion Syndrome
Horseshoe kidney, Pulmonary arterial hypertension, Hypospadias, Joint hypermobility ORPHA:65286
Marshall-Smith Syndrome
Recurrent upper respiratory tract infections, Aspiration pneumonia, Wormian bones, Premature vent... OMIM:602535
Myasthenia Gravis
Autoimmunity OMIM:254200
Hutchinson-Gilford Progeria Syndrome
Aortic valve stenosis, Limitation of joint mobility, Limited hip movement, Mitral regurgitation, ... ORPHA:740
Telangiectasia, Hereditary Hemorrhagic, Type 2
Nasal mucosa telangiectasia, Facial telangiectasia, Cerebral hemorrhage, Fingerpad telangiectases... OMIM:600376
Telangiectasia, Hereditary Hemorrhagic, Type 1
Pulmonary hemorrhage, Nasal mucosa telangiectasia, High-output congestive heart failure, Telangie... OMIM:187300
Cardiomyopathy, Dilated, 1S
Dilated cardiomyopathy, Congestive heart failure, Tricuspid regurgitation, Reduced left ventricul... OMIM:613426
Carey-Fineman-Ziter Syndrome 1
Flexion contracture, Pulmonary arterial hypertension, Elevated circulating creatine kinase concen... OMIM:254940
Sturge-Weber Syndrome
Conjunctival telangiectasia, Pulmonary embolism ORPHA:3205
Adams-Oliver Syndrome
Gastrointestinal hemorrhage, Pulmonary arterial hypertension, Portal hypertension ORPHA:974
Geleophysic Dysplasia 2
Aortic valve stenosis, Limitation of joint mobility, Joint stiffness, Mitral regurgitation, Mitra... OMIM:614185
Lysosomal Acid Lipase Deficiency
Hypotension, Hypernatriuria, Abnormal urine potassium concentration, Hyponatremia, Pulmonary arte... ORPHA:275761
Neurodevelopmental Disorder With Hypotonia, Language Delay, And Skeletal Defects With Or Without Seizures
Camptodactyly, Flexion contracture, Pulmonary arterial hypertension, Prolonged QT interval OMIM:620029
Ctcf-Related Neurodevelopmental Disorder
Osteopenia, Sepsis, Pulmonary hemorrhage, Joint contracture of the 5th finger, Phimosis, Mitral r... ORPHA:363611
Biliary, Renal, Neurologic, And Skeletal Syndrome
Dilatation of the renal pelvis, Dark urine, Hyperbilirubinemia, Recurrent lower respiratory tract... OMIM:619534
Proteus Syndrome
Long penis, Pulmonary embolism, Joint stiffness, Abnormality of the wrist, Renal cyst, Craniosyno... ORPHA:744
Adams-Oliver Syndrome 5
Pulmonary arterial hypertension, Pulmonic stenosis OMIM:616028
Geleophysic Dysplasia 1
Aortic valve stenosis, Osteopenia, Joint contracture of the hand, Camptodactyly of finger, Conges... OMIM:231050
Congenital Tracheomalacia
Pneumonia, Recurrent upper respiratory tract infections, Tracheomalacia, Pulmonary arterial hyper... ORPHA:95430
Dysmorphism-Short Stature-Deafness-Difference Of Sex Development Syndrome
Micropenis, Recurrent respiratory infections, Pulmonary arterial hypertension, Hypospadias ORPHA:2282
Surfactant Metabolism Dysfunction, Pulmonary, 1
Pulmonary arterial hypertension, Intraalveolar phospholipid accumulation OMIM:265120
Familial Thrombocytosis
Pulmonary arterial hypertension, Transient ischemic attack, Syncope, Cerebral ischemia ORPHA:71493
Interatrial Communication
Atrial flutter, Congestive heart failure, Palpitations, Right axis deviation, Pulmonary arterial ... ORPHA:1478
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome
Tracheomalacia, Aspiration pneumonia, Horseshoe kidney, Congestive heart failure, Vesicoureteral ... ORPHA:444077
Scimitar Syndrome
Congestive heart failure, Pulmonary arterial hypertension, Recurrent respiratory infections, Left... ORPHA:185
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta
Congestive heart failure, Pulmonary arterial hypertension, Left ventricular outflow tract obstruc... ORPHA:99050
Generalized Arterial Calcification Of Infancy
Nephrocalcinosis, Osteomalacia, Cortical nephrocalcinosis, Abnormal hip joint morphology, Hypopho... ORPHA:51608
Congenital Alveolar Capillary Dysplasia
Hydronephrosis, Aortic valve stenosis, Pulmonary arterial hypertension ORPHA:210122
Juvenile Polyposis Syndrome
Hematochezia, Gastrointestinal hemorrhage, Epistaxis, Brain abscess, Transient ischemic attack, S... ORPHA:2929
Laubry-Pezzi Syndrome
Aortic regurgitation, Congestive heart failure, Palpitations, Mildly reduced left ventricular eje... ORPHA:99094
Lipodystrophy, Familial Partial, Type 7
Recurrent pancreatitis, Pulmonary arterial hypertension, Hypercholesterolemia, Orthostatic hypote... OMIM:606721
Encephalocraniocutaneous Lipomatosis
Aortic valve stenosis, Pulmonary arterial hypertension, Osteochondrosis, Osteolysis ORPHA:2396
Ramon Syndrome
Juvenile rheumatoid arthritis, Telangiectasia OMIM:266270
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome
Unconjugated hyperbilirubinemia, Recurrent respiratory infections, Pulmonary arterial hypertension OMIM:620186
Smooth Muscle Dysfunction Syndrome
Pulmonary arterial hypertension, Hypertension OMIM:613834
Aorta Coarctation
Pulmonary arterial hypertension, Hypertension, Congestive heart failure ORPHA:1457
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Dilatation of the renal pelvis, Hydroureter, Right-to-left shunt, Dilatation of the bladder, Hydr... OMIM:265380
Fontaine Progeroid Syndrome
Coronal craniosynostosis, Tricuspid regurgitation, Pulmonary arterial hypertension, Micropenis, C... OMIM:612289
Diaphragmatic Hernia 4, With Cardiovascular Defects
Recurrent infections, Pulmonary arterial hypertension OMIM:620025
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Bacterial endocarditis, Pulmonary arterial hypertension, Spontaneous, recurrent epistaxis ORPHA:2072
17Q11 Microdeletion Syndrome
Osteopenia, Hypertrophic cardiomyopathy, Renal artery stenosis, Telangiectasia of the skin, Pulmo... ORPHA:97685
Cutis Laxa, Autosomal Recessive, Type Ib
Tricuspid regurgitation, Joint hypermobility, Pulmonary arterial hypertension, Bradycardia, Pulmo... OMIM:614437
Lymphatic Malformation 13
Pulmonary arterial hypertension, Mitral regurgitation OMIM:620244
Adams-Oliver Syndrome 1
Aortic valve stenosis, Pulmonary arterial hypertension, Hypertension, Pulmonic stenosis OMIM:100300
Cog1-Cdg
Osteopenia, Flat acetabular roof, Pulmonary arterial hypertension ORPHA:263508
Yunis-Varon Syndrome
Congenital hip dislocation, Cardiomyopathy, Aspiration pneumonia, Heart murmur, Decreased skull o... OMIM:216340
Holt-Oram Syndrome
Elbow dislocation, Tricuspid regurgitation, Left ventricular noncompaction cardiomyopathy, Limite... OMIM:142900
Congenital Total Pulmonary Venous Return Anomaly
Right ventricular failure, Tricuspid regurgitation, Mitral regurgitation, Pulmonary arterial hype... ORPHA:99125

Histopathology

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

There is no histopathology data for Ash1l

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Ash1l.

No publications found that use IMPC mice or data for Ash1l.

Order Mouse and ES Cells

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

MGI Allele Allele Type Produced
Ash1ltm2a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells
Ash1ltm2b(EUCOMM)Hmgu Reporter-tagged deletion allele (with selection cassette) Mice

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