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Gene: Ash1l MGI:2183158

Gene Summary

Name:

ASH1 like histone lysine methyltransferase

Synonyms:

E430018P19Rik, chromatin remodeling factor, KMT2H, 8030453L17Rik

Order Alleles

IMPC Data Collections

Body Weight Measurements
No Embryo Imaging Data
Viability Data

IMPC Phenotype Summary

Significant

Not Significant

Not tested

View all our phenotype data below

Phenotypes

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

Phenotype	Allele	Zyg	Life Stage	P Value
increased basophil cell number	Ash1l^{tm2b(EUCOMM)Hmgu}	HET	Early adult	1.34×10^-20
increased eosinophil cell number	Ash1l^{tm2b(EUCOMM)Hmgu}	HET	Early adult	6.46×10^-18
increased fasting circulating glucose level	Ash1l^{tm2b(EUCOMM)Hmgu}	HET	Early adult	8.35×10^-05
increased heart weight	Ash1l^{tm2b(EUCOMM)Hmgu}	HET	Early adult	9.53×10^-10
increased grip strength	Ash1l^{tm2b(EUCOMM)Hmgu}	HET	Early adult	4.51×10^-05
impaired pupillary reflex	Ash1l^{tm2b(EUCOMM)Hmgu}	HET	Early adult	3.51×10^-11
abnormal coat appearance	Ash1l^{tm2b(EUCOMM)Hmgu}	HET	Early adult	1.69×10^-06
preweaning lethality, complete penetrance	Ash1l^{tm2b(EUCOMM)Hmgu}	HOM	Early adult	0.00

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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.

Human diseases associated with Ash1l (1 diseases)
Human diseases predicted to be associated with Ash1l (1241 diseases)

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		Scapular winging, Small for gestational age, Bilateral cryptorchidism, Cryptorchidism, Synophrys,...	OMIM:617796

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

Disease	Matching phenotypes	Source
Immunodeficiency, Common Variable, 5	Antinuclear antibody positivity, Recurrent respiratory infections, Chronic decreased circulating ...	OMIM:613495
Immunodeficiency 78 With Autoimmunity And Developmental Delay	Autoimmune hemolytic anemia, Recurrent oral herpes, Persistent CMV viremia, Autoimmune thrombocyt...	OMIM:619220
Immunodeficiency 89 And Autoimmunity	Pulmonary bulla, Reduced circulating interleukin 17A concentration, Reduced circulating interleuk...	OMIM:619632
Immunodeficiency 25	Autoimmune hemolytic anemia, Recurrent herpes, Increased circulating IgA level, Increased circula...	OMIM:610163
Immunodeficiency With Hyper-Igm, Type 2	Recurrent infection of the gastrointestinal tract, Recurrent respiratory infections, Impaired Ig ...	OMIM:605258
Immunodeficiency With Hyper-Igm, Type 5	Impaired Ig class switch recombination, Epididymitis, Increased circulating IgM level, Recurrent ...	OMIM:608106
Complement Component 3 Deficiency, Autosomal Recessive	Renal insufficiency, Membranoproliferative glomerulonephritis, Recurrent tonsillitis, Recurrent p...	OMIM:613779
Immunodeficiency, Common Variable, 6	Recurrent respiratory infections, Glomerulonephritis, Nephrotic range proteinuria, Autoimmune thr...	OMIM:613496
C1Q Deficiency 1	Membranoproliferative glomerulonephritis, Autoimmunity, Recurrent infections, Systemic lupus eryt...	OMIM:613652
Immunodeficiency 64 With Lymphoproliferation	Autoimmune hemolytic anemia, Increased circulating IgA level, Autoimmune thrombocytopenia, Antinu...	OMIM:618534
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis	Glomerulonephritis, Autoimmune hemolytic anemia, Increased circulating antibody level, Pneumonia	OMIM:247800
Autoimmune Disease, Multisystem, Infantile-Onset, 2	Proteinuria, Autoimmunity, Minimal change glomerulonephritis, Nephrotic syndrome, Colitis, Podocy...	OMIM:617006
Systemic Lupus Erythematosus 16	Lupus nephritis, Antinuclear antibody positivity, Systemic lupus erythematosus, Decreased circula...	OMIM:614420
Idiopathic Non-Lupus Full-House Nephropathy	Glomerular C3 deposition, Renal insufficiency, Skin rash, Autoimmunity, Glomerulonephritis, Micro...	ORPHA:567544
Immunodeficiency 95	Respiratory distress, Recurrent respiratory infections, Decreased circulating IgG3 level, Respira...	OMIM:619773
C3 Glomerulopathy	Membranoproliferative glomerulonephritis, Proteinuria, Autoimmunity, Mesangial hypercellularity, ...	ORPHA:329918
Histiocytosis, Familial Lipochrome	Increased alpha-globulin, Polyarticular arthritis, Increased circulating antibody level, Recurren...	OMIM:235900
Proteasome-Associated Autoinflammatory Syndrome 2	Skin rash, Neutrophilic infiltration of the skin, Elevated circulating C-reactive protein concent...	OMIM:618048
Immunodeficiency, Common Variable, 4	Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc...	OMIM:613494
Immunodeficiency 33	Pneumocystis jirovecii pneumonia, Increased circulating IgA level, Decreased circulating total Ig...	OMIM:300636
Immunodeficiency With Hyper-Igm, Type 3	Impaired Ig class switch recombination, Impaired memory B cell generation, Increased circulating ...	OMIM:606843
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes	Recurrent bacterial infections, Decreased circulating IgG level, Recurrent candida infections	OMIM:242870
Activated Pi3K-Delta Syndrome	Pneumonia, Autoimmunity, Severe varicella zoster infection, Recurrent tonsillitis, Bronchiectasis...	ORPHA:397596
Immunodeficiency 86	Impaired oxidative burst, Decreased circulating IgG level, Increased circulating IgM level, BCGitis	OMIM:619549
Autoimmune Lymphoproliferative Syndrome, Type Iii	Elevated circulating C-reactive protein concentration, Decreased circulating complement C4 concen...	OMIM:615559
Autoimmune Lymphoproliferative Syndrome	Autoimmune hemolytic anemia, Antiphospholipid antibody positivity, Rheumatoid factor positive, In...	OMIM:601859
Immunoglobulin A Deficiency 1	Recurrent respiratory infections, Autoimmunity, Recurrent infections, Recurrent infection of the ...	OMIM:137100
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency	Osteopenia, Eczema, Autoimmunity, Abnormal immunoglobulin level, Invasive fungal infection, Recur...	ORPHA:98813
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant	Recurrent respiratory infections, Recurrent sinopulmonary infections, Recurrent ear infections, B...	OMIM:615513
Immunodeficiency 61	Recurrent respiratory infections, Frequent Giardia lamblia infestation, Decreased circulating IgG...	OMIM:300310
Immunoglobulin A Deficiency 2	Recurrent sinopulmonary infections, Recurrent infection of the gastrointestinal tract, Autoimmuni...	OMIM:609529
Immunodeficiency, Common Variable, 3	Recurrent respiratory infections, Decreased circulating total IgM, Recurrent bacterial infections...	OMIM:613493
Immunodeficiency 24	Decreased circulating IgG level, Recurrent viral infections, Severe varicella zoster infection, S...	OMIM:615897
Thrombocytopenia With Elevated Serum Iga And Renal Disease	Hematuria, Glomerulonephritis, Increased circulating IgA level	OMIM:314000
Asthma, Short Stature, And Elevated Iga	Asthma, Increased circulating IgA level	OMIM:208600
Postinfectious Vasculitis	Rheumatoid factor positive, Elevated circulating C-reactive protein concentration, Severe varicel...	ORPHA:48435
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency	Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc...	ORPHA:70593
Severe Combined Immunodeficiency Due To Dclre1C Deficiency	Skin rash, Autoimmunity, Recurrent viral infections, Recurrent mycobacterial infections, Recurren...	ORPHA:275
Autoimmune Lymphoproliferative Syndrome, Type Iia	Gastrointestinal hemorrhage, Autoimmune hemolytic anemia, Antiphospholipid antibody positivity, R...	OMIM:603909
Immunodeficiency, Common Variable, 2	Impaired T cell function, Autoimmunity, Recurrent pneumonia, Bronchiectasis, Recurrent bacterial ...	OMIM:240500
Agammaglobulinemia 2, Autosomal Recessive	Recurrent respiratory infections, Recurrent pneumonia, Agammaglobulinemia, Decreased circulating ...	OMIM:613500
Agammaglobulinemia 4, Autosomal Recessive	Recurrent pneumonia, Agammaglobulinemia, Decreased circulating total IgM, Recurrent bacterial inf...	OMIM:613502
Hyper-Ige Syndrome 5, Autosomal Recessive, With Recurrent Infections	Increased circulating interleukin 6 concentration, Recurrent skin infections, Increased circulati...	OMIM:618944
Immunodeficiency 51	Recurrent respiratory infections, Recurrent skin infections, Eczema, Pneumonia, Abnormal lymphocy...	OMIM:613953
Complement Component C1R/C1S Deficiency	Autoimmunity, Discoid lupus rash, Arthritis, Complement deficiency, Nephritis, Recurrent bronchitis	OMIM:216950
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity	Recurrent respiratory infections, Autoimmune hemolytic anemia, Recurrent urinary tract infections...	OMIM:618495
Immunodeficiency With Hyper-Igm, Type 1	Sepsis, Decreased circulating IgE, Decreased circulating IgG level, Meningitis, Impaired memory B...	OMIM:308230
Eosinophilia, Familial	Eosinophilia, Thrombocytopenia, Leukocytosis, Myocardial eosinophilic infiltration, Anemia	OMIM:131400
Immunodeficiency 35	Recurrent respiratory infections, Recurrent viral infections, Recurrent mycobacterial infections,...	OMIM:611521
Sting-Associated Vasculopathy, Infantile-Onset	Recurrent respiratory infections, Myositis, Antiphospholipid antibody positivity, Rheumatoid fact...	OMIM:615934
Immunodeficiency 62	Recurrent herpes, Autoimmune thrombocytopenia, Severe recurrent varicella, Recurrent upper respir...	OMIM:618459
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation	Herpes simplex encephalitis, Increased circulating IgE level, Bronchiectasis, Recurrent infection...	OMIM:618982
Agammaglobulinemia 6, Autosomal Recessive	Recurrent pneumonia, Agammaglobulinemia, Decreased circulating total IgM, Recurrent bacterial inf...	OMIM:612692
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein	Recurrent bacterial infections, Abnormality of T cell physiology, Recurrent protozoan infections,...	OMIM:308220
Leydig Cell Hypoplasia	Abnormal internal genitalia, Hypergonadotropic hypogonadism, Female hypogonadism, Hypospadias, Ab...	ORPHA:755
Adult Idiopathic Neutropenia	Helicobacter pylori infection, Recurrent infections, Increased circulating IgM level, Recurrent b...	ORPHA:2688
Lymphoma, Hodgkin, Classic	Polyclonal elevation of IgM	OMIM:236000
Complement Component 6 Deficiency	Decreased circulating complement C6 concentration, Reduced hemolytic complement activity, Recurre...	OMIM:612446
Complement Component 4A Deficiency	Glomerulonephritis, Vasculitis, Reduced hemolytic complement activity, Systemic lupus erythematos...	OMIM:614380
Complement Factor I Deficiency	Recurrent urinary tract infections, Renal insufficiency, Recurrent skin infections, Glomeruloneph...	OMIM:610984
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency	Neonatal sepsis, Increased circulating IgA level, Autoimmune thrombocytopenia, Recurrent viral in...	ORPHA:169154
Autoimmune Interstitial Lung, Joint, And Kidney Disease	Elevated circulating C-reactive protein concentration, Mesangial hypercellularity, Antinuclear an...	OMIM:616414
Caspase 8 Deficiency	Recurrent sinopulmonary infections, Complete or near-complete absence of specific antibody respon...	OMIM:607271
Immunodeficiency, Common Variable, 7	Recurrent respiratory infections, Recurrent urinary tract infections, Chronic (near) absent circu...	OMIM:614699
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections	Cerebral vasculitis, Recurrent sinopulmonary infections, Eczema, Eosinophilic infiltration of the...	OMIM:243700
Whim Syndrome 1	Recurrent upper respiratory tract infections, Bronchiectasis, Decreased circulating antibody leve...	OMIM:193670
Hypereosinophilic Syndrome, Idiopathic	Hepatomegaly, Eosinophilia, Splenomegaly, Endocardial fibrosis, Myeloproliferative disorder, Rest...	OMIM:607685
Immunodeficiency, Common Variable, 1	Impaired T cell function, Pneumonia, Recurrent pneumonia, Bronchiectasis, Neutropenia in presence...	OMIM:607594
Immunodeficiency 36 With Lymphoproliferation	Autoimmunity, Persistent CMV viremia, Recurrent upper respiratory tract infections, Bronchiectasi...	OMIM:616005
Immunodeficiency With Hyper-Igm, Type 4	Autoimmune hemolytic anemia, Osteomyelitis, Impaired Ig class switch recombination, Autoimmune th...	OMIM:608184
Axonal Polyneuropathy Associated With Igg/Igm/Iga Monoclonal Gammopathy	Cryoglobulinemia, Increased circulating beta-2-microglobulin level, Monoclonal immunoglobulin M p...	ORPHA:209004
Chilblain Lupus	Inflammatory abnormality of the skin, Antiphospholipid antibody positivity, Skin rash, Rheumatoid...	ORPHA:90280
Complement Component 7 Deficiency	Decreased circulating complement C7 concentration, Recurrent Neisserial infections, Recurrent men...	OMIM:610102
Immunodeficiency 27A	Increased inflammatory response, Abnormal bronchus physiology, Rheumatoid factor positive, Pneumo...	OMIM:209950
C1Q Deficiency 3	Antinuclear antibody positivity, Decreased circulating C1q concentration, Recurrent bacterial men...	OMIM:620322
Simple Cryoglobulinemia	Rheumatoid factor positive, Monoclonal elevation of circulating IgA, Myocardial infarction, Mesan...	ORPHA:91139
Complement Component 8 Deficiency, Type I	Meningitis, Decreased circulating complement C8 concentration, Systemic lupus erythematosus	OMIM:613790
Immunodeficiency, Common Variable, 10	Recurrent oral herpes, Psoriasiform dermatitis, Frequent Giardia lamblia infestation, Anti-thyroi...	OMIM:615577
Macroglobulinemia, Waldenstrom, Susceptibility To, 1	Monoclonal immunoglobulin M proteinemia, Polyclonal elevation of IgM	OMIM:153600
Agammaglobulinemia 3, Autosomal Recessive	Agammaglobulinemia, Recurrent bacterial infections, Absent isohemagglutinin level, Recurrent otit...	OMIM:613501
Autoinflammation With Arthritis And Dyskeratosis	Autoimmune hemolytic anemia, Elevated circulating C-reactive protein concentration, Increased cir...	OMIM:617388
Autoimmune Hepatitis	Gastrointestinal hemorrhage, Viral hepatitis, Liver kidney microsome type 1 antibody positivity, ...	ORPHA:2137
Immunodeficiency By Defective Expression Of Mhc Class Ii	Recurrent herpes, Sinusitis, Recurrent viral infections, Acute otitis media, Recurrent candida in...	ORPHA:572
Agammaglobulinemia 10, Autosomal Dominant	Recurrent respiratory infections, Agammaglobulinemia, Decreased circulating total IgM, Recurrent ...	OMIM:619707
Immune Deficiency, Familial Variable	Decreased circulating IgG level, Recurrent infections, Decreased circulating IgA level	OMIM:146830
Retinal Telangiectasia And Hypogammaglobulinemia	Reduced delayed hypersensitivity, Decreased circulating IgG level, Retinal telangiectasia	OMIM:267900
Severe Combined Immunodeficiency, X-Linked	Skin rash, Pneumonia, Reduced natural killer cell activity, Recurrent bacterial meningitis, Recur...	OMIM:300400
Immunodeficiency 88	Eosinophilia	OMIM:619630
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency	Inflammatory abnormality of the skin, Sinusitis, Autoimmunity, Anti-thyroid peroxidase antibody p...	ORPHA:277
Pgm3-Cdg	Rheumatoid factor positive, Recurrent viral infections, Sepsis, Increased circulating IgG level, ...	ORPHA:443811
Complement Factor D Deficiency	Recurrent bacterial infections, Partial functional complement factor D deficiency	OMIM:613912
Satoyoshi Syndrome	Abnormality of the knee, Short stature, Tapered finger, Abnormal hair morphology, Abnormality of ...	ORPHA:3130
Lymphoproliferative Syndrome, X-Linked, 1	Recurrent respiratory infections, Dysgammaglobulinemia, Elevated circulating C-reactive protein c...	OMIM:308240
Selective Igm Deficiency	Fasciitis, Recurrent herpes, Recurrent staphylococcal infections, Lymphadenitis, Severe varicella...	ORPHA:331235
Female Infertility Due To Oocyte Meiotic Arrest	Female infertility, Polycystic ovaries, Abnormal spermatogenesis, Oocyte arrest at metaphase I, A...	ORPHA:488191
Immunodeficiency 23	Recurrent respiratory infections, Membranoproliferative glomerulonephritis, Rheumatoid factor pos...	OMIM:615816
Ring Chromosome Y Syndrome	Bifid scrotum, Ambiguous genitalia, female, Ambiguous genitalia, male, Abnormality of the male ge...	ORPHA:261529
Insulin Autoimmune Syndrome	Arthralgia/arthritis, Autoimmunity, Autoimmune antibody positivity, Systemic lupus erythematosus,...	ORPHA:411593
Myeloproliferative Disorder, Chronic, With Eosinophilia	Eosinophilia, Myeloproliferative disorder	OMIM:131440
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency	Chronic gastritis, Recurrent herpes, Cholangitis, Sepsis, Pulmonary tuberculosis, Cholecystitis, ...	ORPHA:183675
Cernunnos-Xlf Deficiency	Recurrent viral infections, Recurrent bacterial infections, Autoimmunity, Decreased circulating a...	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
Mendelian Susceptibility To Mycobacterial Diseases Due To Complete Il12Rb1 Deficiency	Tegumentary leishmaniasis susceptibility, Pneumonia, Lymphadenitis, Recurrent mycobacterial infec...	ORPHA:319552
Complement Component 8 Deficiency, Type Ii	Recurrent Neisserial infections, Meningitis, Decreased circulating complement C8 concentration	OMIM:613789
Gamma-A-Globulin, Defect In Assembly Of	Recurrent respiratory infections, Decreased circulating IgA level	OMIM:137050
Müllerian Aplasia And Hyperandrogenism	Thick eyebrow, Short stature, Acne, Frontal balding, Synophrys, Obesity, Primary amenorrhea, Shie...	ORPHA:247768
Neutropenia, Severe Congenital, 1, Autosomal Dominant	Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Monocytosis, Neutropenia, Thr...	OMIM:202700
Masp2 Deficiency	Complement deficiency, Recurrent pneumonia, Ulcerative colitis, Systemic lupus erythematosus	OMIM:613791
Lipodystrophy, Partial, Acquired, Susceptibility To	Membranoproliferative glomerulonephritis, Proteinuria, Recurrent infections, Hematuria, Nephrotic...	OMIM:608709
Mannose-Binding Lectin Deficiency	Recurrent herpes, Recurrent skin infections, Disseminated cryptosporidium infection, Recurrent Kl...	OMIM:614372
Ectodermal Dysplasia And Immunodeficiency 1	Dysgammaglobulinemia, Reduced natural killer cell activity, Increased circulating IgA level, Seve...	OMIM:300291
Hepatic Venoocclusive Disease With Immunodeficiency	Decreased circulating IgG level	OMIM:235550
Complement Factor H Deficiency	Chronic kidney disease, Thickened glomerular basement membrane, Depletion of components of the al...	OMIM:609814
Immunodeficiency 102	Increased circulating interleukin 6 concentration, Recurrent skin infections, Partial absence of ...	OMIM:301082
Iga Pemphigus	Neutrophilic infiltration of the skin, Monoclonal elevation of circulating IgA, Increased circula...	ORPHA:555905
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency	Recurrent bacterial skin infections, Recurrent herpes, Skin rash, Pneumonia, Abnormal immunoglobu...	ORPHA:276
Nevoid Hypermelanosis, Linear And Whorled	Eosinophilia	OMIM:614323
Androgen Insensitivity, Partial	Bifid scrotum, Absent vas deferens, Cryptorchidism, Male pseudohermaphroditism, Perineal hypospad...	OMIM:312300
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation	Atrophic gastritis, Psoriasiform dermatitis, Autoimmune hemolytic anemia, Eczema, Autoimmune thro...	OMIM:616100
Immunodeficiency 44	Severe viral infection, Decreased circulating total IgM, Abnormal circulating IgG level, Post-vac...	OMIM:616636
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 4	Agammaglobulinemia, Recurrent infections, Decreased circulating antibody level	OMIM:616911
Combined Immunodeficiency, X-Linked	Sinusitis, Pneumonia, Otitis media, Decreased circulating IgG level, Recurrent bronchitis	OMIM:312863
Immunodeficiency 11B With Atopic Dermatitis	Pneumonia, Asthma, Increased circulating IgE level, Atopic dermatitis, Bronchiectasis, Ulcerative...	OMIM:617638
Immunoerythromyeloid Hypoplasia	Decreased circulating IgG level	OMIM:242880
B-Cell Expansion With Nfkb And T-Cell Anergy	Decreased circulating total IgM, Decreased specific antibody response to polysaccharide vaccine, ...	OMIM:616452
Neutropenia, Chronic Familial	Increased circulating antibody level, Periodontitis	OMIM:162700
Schnitzler Syndrome	Increased bone mineral density, Skin rash, Vasculitis, Increased circulating IgM level, Arthritis	ORPHA:37748
17Q23.1Q23.2 Microdeletion Syndrome	Long toe, Epicanthus, Coxa magna, Short stature, Sandal gap, Highly arched eyebrow, Long fingers,...	ORPHA:261279
Igg4-Related Aortitis	Increased inflammatory response, Autoimmunity, Increased circulating IgG4 level, Elevated circula...	ORPHA:449400
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked	Eczema, Glomerulonephritis, Autoimmune thrombocytopenia, Severe infection, Increased circulating ...	OMIM:304790
Heparin-Induced Thrombocytopenia	Increased inflammatory response, Myocardial infarction, Pulmonary embolism, Autoimmune thrombocyt...	ORPHA:3325
Lipodystrophy, Partial, Acquired, With Low Complement Component C3, With Or Without Glomerulonephritis	Membranoproliferative glomerulonephritis, Proteinuria, Recurrent infections, Hematuria, Nephrotic...	OMIM:613913
Facial Dysmorphism, Immunodeficiency, Livedo, And Short Stature	Recurrent upper respiratory tract infections, Bronchiectasis, Decreased circulating total IgM, Re...	OMIM:615139
Ichthyosis-Prematurity Syndrome	Eosinophilia	ORPHA:88621
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta	Chronic oral candidiasis, Recurrent herpes, Pneumonia, Recurrent pneumonia, Hepatitis, Erythroder...	ORPHA:169160
Pa Polymorphism Of Alpha-2-Globulin	Abnormal immunoglobulin level	OMIM:260100
Thymoma	Myositis, Autoimmunity, Abnormal lymphocyte proliferation, Abnormal lymphocyte physiology, Glomer...	ORPHA:99867
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Respiratory distress, Myositis, Anti-thyroid peroxidase antibody positivity, Abnormal blood ion c...	ORPHA:37042
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome	Eczema, Increased circulating IgE level, Increased circulating IgM level, Reduced antigen-specifi...	OMIM:617241
Immunodeficiency 60 And Autoimmunity	Decreased circulating IgG level, Recurrent sinopulmonary infections, Bronchiectasis, Ulcerative c...	OMIM:618394
Ovarian Dysgenesis 2	Streak ovary, Hypergonadotropic hypogonadism, Premature ovarian insufficiency, Secondary amenorrh...	OMIM:300510
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate	Sparse eyelashes, Hypospadias, Supernumerary nipple, Absent eyelashes, Lacrimal duct atresia, 2-3...	OMIM:106260
C1Q Deficiency 2	Anti-Sm antibody positivity, Rheumatoid factor positive, Chilblains, Elevated circulating C-react...	OMIM:620321
Primary Biliary Cholangitis	Orthostatic hypotension, Autoimmunity, Portal hypertension, Increased circulating IgA level, Anti...	ORPHA:186
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2	Pneumocystis jirovecii pneumonia, Pneumonia, Recurrent upper respiratory tract infections, Recurr...	OMIM:614069
Immunodeficiency 50	Recurrent respiratory infections, Recurrent urinary tract infections, Eczema, Decreased circulati...	OMIM:300988
Acute Myelomonocytic Leukemia	Thrombocytopenia, Leukocytosis, Eosinophilia, Anemia	ORPHA:517
Ige Responsiveness, Atopic	Asthma, Increased circulating IgE level, Eczema, Allergic rhinitis	OMIM:147050
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency	Atrophic gastritis, Sepsis, Recurrent candida infections, Inflammation of the large intestine, De...	ORPHA:436159
Immunodeficiency, Common Variable, 14	Psoriasiform dermatitis, Decreased circulating total IgM, Recurrent sinusitis, Decreased specific...	OMIM:617765
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections	Osteopenia, Recurrent sinopulmonary infections, Skin rash, Recurrent fractures, Craniosynostosis,...	OMIM:147060
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency	Autoimmune hemolytic anemia, Skin rash, Autoimmunity, Recurrent viral infections, Lymphadenitis, ...	ORPHA:331206
Immunodeficiency 14B, Autosomal Recessive	Candida esophagitis, Reduced natural killer cell activity, Recurrent pneumonia, Decreased circula...	OMIM:619281
Autoimmune Lymphoproliferative Syndrome	Rheumatoid factor positive, Uveitis, Increased circulating IgG level, Colitis, Decreased circulat...	ORPHA:3261
Bare Lymphocyte Syndrome, Type Ii	Viral hepatitis, Chronic lymphocytic meningitis, Recurrent urinary tract infections, Cholangitis,...	OMIM:209920
Acute Lung Injury	Respiratory distress, Shock, Increased circulating interleukin 6 concentration, Acute pancreatiti...	ORPHA:178320
C3 Glomerulopathy 3	Glomerular C3 deposition, Renal insufficiency, Glomerulonephritis, Mesangial hypercellularity, St...	OMIM:614809
Combined Immunodeficiency Due To Dock8 Deficiency	Recurrent bacterial skin infections, Recurrent respiratory infections, Pneumonia, Recurrent viral...	ORPHA:217390
Immunodeficiency 43	Hypoproteinemia, Recurrent respiratory infections, Decreased specific antibody response to polysa...	OMIM:241600
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections	Recurrent respiratory infections, Osteomyelitis, Recurrent skin infections, Eczema, Increased cir...	OMIM:618282
Immunodeficiency 109 With Lymphoproliferation	Hypertriglyceridemia, Decreased lymphocyte proliferation in response to anti-CD3, Bronchiectasis,...	OMIM:620282
Immunodeficiency 96	Conjunctival telangiectasia, Multicystic kidney dysplasia, Eczema, Recurrent infections, Decrease...	OMIM:619774
Premature Ovarian Failure 7	Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Secondary amenor...	OMIM:612964
Diethylstilbestrol Syndrome	Premature ovarian insufficiency, Small for gestational age, Hypospadias, Vaginal neoplasm, Decrea...	ORPHA:1916
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency	Recurrent respiratory infections, Glomerulonephritis, Autoimmune thrombocytopenia, Antinuclear an...	OMIM:619375
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia	Recurrent skin infections, Decreased circulating antibody level, Hypocystinemia, Decreased serum ...	OMIM:617744
Immunodeficiency 22	Pericarditis, Autoimmunity, Recurrent upper respiratory tract infections, Capillary leak, Decreas...	OMIM:615758
T-Cell Immunodeficiency With Thymic Aplasia	Sinusitis, Sepsis, Recurrent candida infections, Hypocalcemic tetany, Chronic otitis media, Oppor...	ORPHA:83471
Immunodeficiency, Common Variable, 11	Recurrent respiratory infections, Increased circulating IgE level, Inflammation of the large inte...	OMIM:615767
Immunodeficiency 70	Decreased circulating total IgG, Furuncle, Decreased circulating antibody level, Decreased circul...	OMIM:618969
Zika Virus Disease	Maculopapular exanthema, Ankle swelling, Skin rash, Wrist swelling, Meningitis, Increased circula...	ORPHA:448237
Nephrotic Syndrome, Type 7	Membranoproliferative glomerulonephritis, Proteinuria, Hemolytic-uremic syndrome, Stage 5 chronic...	OMIM:615008
Hyperimmunoglobulinemia D With Periodic Fever	Gastrointestinal hemorrhage, Increased circulating IgA level, Peritonitis, Limitation of joint mo...	ORPHA:343
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome	Finger syndactyly, Epicanthus, Short stature, Synophrys, Abnormality of the elbow, Abnormal rib m...	ORPHA:3268
Autoinflammation, Panniculitis, And Dermatosis Syndrome	Skin rash, Elevated circulating C-reactive protein concentration, Increased circulating IgA level...	OMIM:617099
Persistent Polyclonal B-Cell Lymphocytosis	Decreased circulating total IgM, Recurrent infections	OMIM:606445
Panniculitis-Induced Localized Lipodystrophy	Antinuclear antibody positivity, Inflammatory abnormality of the skin, Vasculitis in the skin, Ab...	ORPHA:90159
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive	Pneumonia, Purulent rhinitis, Meningitis, Recurrent opportunistic infections, Arthritis, Conjunct...	OMIM:601457
Boutonneuse Fever	Renal insufficiency, Skin rash, Maculopapular exanthema, Vasculitis, Increased circulating IgG le...	ORPHA:83313
Congenital Bilateral Absence Of Vas Deferens	Male infertility, Absent vas deferens, Obstructive azoospermia, Oligozoospermia	ORPHA:48
Immunodeficiency 12	Skin rash, Decreased lymphocyte proliferation in response to anti-CD3, Recurrent viral infections...	OMIM:615468
Purine Nucleoside Phosphorylase Deficiency	Cerebral vasculitis, Increased circulating inosine concentration, Autoimmune hemolytic anemia, Si...	OMIM:613179
Limb-Mammary Syndrome	Absent lacrimal punctum, Alopecia, Absent nipple, Chronic irritative conjunctivitis, Syndactyly, ...	ORPHA:69085
Testicular Agenesis	Abnormal vas deferens morphology, Urethrovaginal fistula, Absent external genitalia, Increased ci...	ORPHA:325124
Adult Acute Respiratory Distress Syndrome	Shock, Increased circulating interleukin 6 concentration, Pneumonia, Dyspnea, Vasculitis, Sepsis,...	ORPHA:70578
Wiskott-Aldrich Syndrome	Recurrent herpes, Abnormal delayed hypersensitivity skin test, Sepsis, Large vessel vasculitis, I...	OMIM:301000
Systemic Lupus Erythematosus	Pericarditis, Antiphospholipid antibody positivity, Lupus nephritis, Antinuclear antibody positiv...	OMIM:152700
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections	Recurrent skin infections, Asthma, Increased circulating IgE level, Recurrent pneumonia, Bronchie...	OMIM:619752
Immunodeficiency Due To Defect In Mapbp-Interacting Protein	Decreased circulating total IgM, Recurrent bronchopulmonary infections	OMIM:610798
Agammaglobulinemia 8B, Autosomal Recessive	Recurrent pneumonia, Recurrent infections, Agammaglobulinemia, Decreased circulating total IgM, D...	OMIM:619824
Ras-Associated Autoimmune Leukoproliferative Disorder	Recurrent respiratory infections, Autoimmunity, Autoimmune thrombocytopenia, Recurrent infections...	OMIM:614470
Hyper-Ige Syndrome 4B, Autosomal Recessive, With Recurrent Infections	Arthropathy, Recurrent respiratory infections, Eczema, Craniosynostosis, Keratitis, Increased cir...	OMIM:618523
Myalgia-Eosinophilia Syndrome Associated With Tryptophan	Lymphopenia, Eosinophilia	ORPHA:2582
Immunodeficiency 103, Susceptibility To Fungal Infections	Abnormal B cell count, Hypereosinophilia, Abnormal proportion of CD8-positive T cells, Abnormal n...	OMIM:212050
Agammaglobulinemia 8A, Autosomal Dominant	Agammaglobulinemia, Post-vaccination polio, Recurrent otitis media, Recurrent infections	OMIM:616941
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies	Short stature, Abnormal rib morphology, Hypoplasia of the uterus, Azoospermia, Bicornuate uterus,...	OMIM:601076
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia	Recurrent urinary tract infections, Sinusitis, Enteroviral dermatomyositis syndrome, Pneumonia, R...	OMIM:307200
Hyper-Igd Syndrome	Skin rash, Increased circulating IgA level, Lymphadenitis, Recurrent infections, Arthritis, Chron...	OMIM:260920
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome	Liver kidney microsome type 1 antibody positivity, Antinuclear antibody positivity, Anti-liver cy...	ORPHA:562639
Nephrotic Syndrome, Type 23	Proteinuria, Mesangial hypercellularity, Minimal change glomerulonephritis, Focal segmental glome...	OMIM:619201
Satoyoshi Syndrome	Alopecia, Short metacarpal, Short stature, Brachydactyly, Short metatarsal, Osteolytic defects of...	OMIM:600705
Seckel Syndrome 7	Severe short stature, Abnormal carpal morphology, Madelung deformity, Primary amenorrhea, Hypopla...	OMIM:614851
Immunodeficiency 52	Persistent CMV viremia, Autoimmune thrombocytopenia, Recurrent pneumonia, Bronchiectasis, Decreas...	OMIM:617514
Transcobalamin Deficiency	Methylmalonic aciduria, Decreased circulating antibody level, Decreased circulating total IgM, De...	ORPHA:859
Juvenile Temporal Arteritis	Leukocytosis, Eosinophilia	ORPHA:26137
Diffuse Alveolar Hemorrhage	Respiratory failure requiring assisted ventilation, Antiphospholipid antibody positivity, Rheumat...	ORPHA:90060
Nephrotic Syndrome, Type 15	Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidney disease, Hypoalbuminemia, ...	OMIM:617609
Premature Ovarian Failure 13	Female infertility, Hypoplasia of the uterus, Elevated circulating follicle stimulating hormone l...	OMIM:617442
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome	Streak ovary, Abnormality of female external genitalia, Increased circulating gonadotropin level,...	ORPHA:168563
Premature Ovarian Failure 6	Premature ovarian insufficiency, Streak ovary, Female infertility, Elevated circulating luteinizi...	OMIM:612310
Lassa Fever	Shock, Dyspnea, Sepsis, Oliguria, Increased circulating IgM level, Conjunctivitis, Cough	ORPHA:99824
Perrault Syndrome 6	Streak ovary, Premature ovarian insufficiency, Irregular menstruation, Secondary amenorrhea, Prim...	OMIM:617565
Immunodeficiency, Common Variable, 12, With Autoimmunity	Recurrent sinopulmonary infections, Autoimmune hemolytic anemia, Atrophic gastritis, Recurrent sk...	OMIM:616576
Moebius Syndrome	Aplasia/Hypoplasia of the thumb, Epicanthus, Finger syndactyly, Hypogonadotropic hypogonadism, Ab...	ORPHA:570
Keratosis Follicularis Spinulosa Decalvans, X-Linked	Sparse eyelashes, Corneal dystrophy, Sparse eyebrow, Scarring alopecia of scalp, Keratitis, Folli...	OMIM:308800
Ovarian Dysgenesis 7	Elevated circulating luteinizing hormone level, Primary amenorrhea, Hypoplasia of the uterus, Ele...	OMIM:618117
Idiopathic Pulmonary Hemosiderosis	Rheumatoid factor positive, Glomerulonephritis, Crackles, Diffuse alveolar hemorrhage, Antinuclea...	ORPHA:99931
Angiostrongyliasis	Stiff neck, Increased circulating IgA level, Unusual CNS infection, Increased circulating specifi...	ORPHA:74
Immunodeficiency, Common Variable, 13	Recurrent bacterial infections, Decreased circulating antibody level	OMIM:616873
Generalized Eruptive Histiocytosis	Leukemia, Hypereosinophilia, Histiocytosis	ORPHA:157991
Clouston Syndrome	Alopecia, Brittle hair, Sparse eyelashes, Alopecia totalis, Slow-growing hair, Short stature, Spa...	OMIM:129500
Immunodeficiency 34	Recurrent mycobacterial infections, BCGosis, Pulmonary tuberculosis	OMIM:300645
Deafness, Neural, With Atypical Atopic Dermatitis	Late onset atopic dermatitis, Increased circulating IgE level	OMIM:221700
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia	Decreased circulating total IgM, Decreased circulating IgG level, Recurrent respiratory infections	OMIM:618987
Acute Zonal Occult Outer Retinopathy	Macular drusen, Retinal pigment epithelial atrophy, Abnormal retinal vascular morphology, Retinal...	ORPHA:284454
Igg4-Related Kidney Disease	Rheumatoid factor positive, Elevated circulating C-reactive protein concentration, Lymphadenitis,...	ORPHA:449395
Chronic Myeloid Leukemia	Splenomegaly, Leukocytosis, Abnormal granulocyte morphology, Myeloproliferative disorder, Thrombo...	ORPHA:521
Vas Deferens, Congenital Bilateral Aplasia Of, X-Linked	Male infertility, Azoospermia, Absent vas deferens	OMIM:300985
Vas Deferens, Congenital Bilateral Aplasia Of	Male infertility, Azoospermia, Absent vas deferens	OMIM:277180
Normosmic Congenital Hypogonadotropic Hypogonadism	Eunuchoid habitus, Hypogonadotropic hypogonadism, Female hypogonadism, Non-obstructive azoospermi...	ORPHA:432
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 2, Autosomal Dominant	Increased circulating IgE level, Eczema, Thyroiditis, Recurrent infections	OMIM:618985
Subcorneal Pustular Dermatosis	Autoimmunity, Pustule, Systemic lupus erythematosus, Increased circulating antibody level, Rheuma...	ORPHA:48377
Premature Ovarian Failure 3	Hypoplasia of the uterus, Premature ovarian insufficiency, Secondary amenorrhea	OMIM:608996
Keratosis Follicularis Spinulosa Decalvans, Autosomal Dominant	Alopecia, Cataract, Sparse eyelashes, Sparse eyebrow, Scarring alopecia of scalp, Keratitis, Foll...	OMIM:612843
Autoinflammation, Antibody Deficiency, And Immune Dysregulation	Recurrent sinopulmonary infections, Enterocolitis, Ulcerative colitis, Decreased circulating tota...	OMIM:614878
Nephrotic Syndrome, Type 10	Nephrotic syndrome, Podocyte foot process effacement, Steroid-resistant nephrotic syndrome, Minim...	OMIM:615861
Immunodeficiency 85 And Autoimmunity	Recurrent respiratory infections, Eczema, Oligoarthritis, Persistent EBV viremia, Decreased circu...	OMIM:619510
Blepharophimosis, Ptosis, And Epicanthus Inversus	Telecanthus, Premature ovarian insufficiency, Highly arched eyebrow, Female infertility, Sparse p...	OMIM:110100
Ovarian Dysgenesis 5	Short stature, Elevated circulating luteinizing hormone level, Primary amenorrhea, Hypoplasia of ...	OMIM:617690
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia	Joint dislocation, Recurrent respiratory infections, Recurrent urinary tract infections, Recurren...	OMIM:620210
Complement Factor B Deficiency	Pneumonia, Decreased circulating complement factor B concentration, Peritonitis, Recurrent bacter...	OMIM:615561
Ovarian Dysgenesis 6	Hypoplasia of the uterus, Hypergonadotropic hypogonadism, Primary amenorrhea	OMIM:618078
Insulin-Resistance Syndrome Type B	Abnormal circulating lipid concentration, Skin rash, Pneumonia, Decreased circulating complement ...	ORPHA:2298
Lysinuric Protein Intolerance	Osteopenia, Decreased HDL cholesterol concentration, Tubulointerstitial nephritis, Renal fibrosis...	ORPHA:470
Immunodeficiency, Common Variable, 8, With Autoimmunity	Atrophic gastritis, Sepsis, Uveitis, Inflammation of the large intestine, Colitis, Conjunctivitis...	OMIM:614700
Macrophage Activation Syndrome	Increased inflammatory response, Increased circulating interleukin 6 concentration, Hypertriglyce...	ORPHA:158061
Griscelli Syndrome, Type 2	Reduced delayed hypersensitivity, Recurrent bacterial infections	OMIM:607624
Ovarian Dysgenesis 9	Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Primary amenorrh...	OMIM:619665
Perrault Syndrome 4	Premature ovarian insufficiency, Increased circulating gonadotropin level, Obesity, Secondary ame...	OMIM:615300
Agammaglobulinemia, X-Linked	Sepsis, Decreased circulating IgE, Conjunctivitis, Decreased circulating IgG level, Meningitis, I...	OMIM:300755
Schimke Immuno-Osseous Dysplasia	Impaired T cell function, Nephropathy, Nephrotic range proteinuria, Minimal change glomerulonephr...	ORPHA:1830
Immunodeficiency 48	Recurrent respiratory infections, Pneumonia, Recurrent candida infections, Eczematoid dermatitis,...	OMIM:269840
Catastrophic Antiphospholipid Syndrome	Antiphospholipid antibody positivity, Angina pectoris, Abnormality of the kidney, Anticardiolipin...	ORPHA:464343
Oocyte/Zygote/Embryo Maturation Arrest 9	Oocyte arrest at metaphase I, Female infertility	OMIM:619011
Multiple Myeloma	Osteopenia, Hypercalcemia, Increased circulating IgA level, Nephropathy, Elevated circulating cre...	ORPHA:29073
Congenital Membranous Nephropathy Due To Fetomaternal Anti-Neutral Endopeptidase Alloimmunization	Nephrotic syndrome, Renal insufficiency, Glomerular deposits, Glomerulonephritis	ORPHA:69063
Bacterial Toxic-Shock Syndrome	Respiratory distress, Fasciitis, Sinusitis, Myositis, Elevated circulating creatine kinase concen...	ORPHA:36234
Loeffler Endocarditis	Abnormal morphology of the chordae tendinae of the mitral valve, Pericarditis, Abnormal heart val...	ORPHA:75566
Interstitial Lung Disease 2	Dyspnea, Increased circulating antibody level, Cough, Decreased DLCO, Pulmonary arterial hyperten...	OMIM:178500
Agammaglobulinemia 9, Autosomal Recessive	Agammaglobulinemia, Recurrent bacterial infections, Eczematoid dermatitis, Seborrheic dermatitis	OMIM:619693
Neutropenia, Severe Congenital, 6, Autosomal Recessive	Recurrent otitis media, Recurrent respiratory infections, Recurrent bacterial infections	OMIM:616022
Hypocomplementemic Urticarial Vasculitis	Joint dislocation, Uveitis, Conjunctivitis, Cough, Emphysema, Meningitis, Glomerulopathy, Restric...	ORPHA:36412
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency	Diffuse mesangial sclerosis, Absent specific antibody response, Autoimmune hemolytic anemia, Sinu...	OMIM:102700
Primary Membranoproliferative Glomerulonephritis	Renal insufficiency, Proteinuria, Myocardial infarction, Chronic kidney disease, Stage 5 chronic ...	ORPHA:54370
Erythema Elevatum Diutinum	Skin rash, Increased circulating antibody level, Vasculitis in the skin	ORPHA:90000
Cornelia De Lange Syndrome	Hypoplasia of penis, Congenital diaphragmatic hernia, Proximal placement of thumb, Synophrys, Low...	ORPHA:199
Perrault Syndrome 3	Streak ovary, Hypergonadotropic hypogonadism, Short stature, Elevated circulating luteinizing hor...	OMIM:614129
Combined Cellular And Humoral Immune Defects With Granulomas	Recurrent respiratory infections, Decreased circulating IgG level	OMIM:233650
Lymphoproliferative Syndrome 1	Autoimmune hemolytic anemia, Autoimmunity, Elevated circulating C-reactive protein concentration,...	OMIM:613011
Mucopolysaccharidosis-Plus Syndrome	Respiratory distress, Recurrent respiratory infections, Proteinuria, Recurrent bronchopulmonary i...	OMIM:617303
Microcephaly, Congenital Cataract, And Psoriasiform Dermatitis	Psoriasiform dermatitis, Short stature, Developmental cataract, Delayed puberty, Failure to thriv...	OMIM:616834
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia	Hypogonadotropic hypogonadism, Cryptorchidism, Primary amenorrhea, Absent pubic hair, Hypoplasia ...	OMIM:614841
Agammaglobulinemia 7, Autosomal Recessive	Recurrent respiratory infections, Erythema nodosum, Recurrent infections, Agammaglobulinemia, Pan...	OMIM:615214
Idiopathic Steroid-Resistant Nephrotic Syndrome	Diffuse mesangial sclerosis, Hypertriglyceridemia, Foamy urine, Proteinuria, Minimal change glome...	ORPHA:567548
Complement Component C1S Deficiency	Abnormality of complement system, Hepatitis, Hashimoto thyroiditis, Systemic lupus erythematosus	OMIM:613783
Combined Immunodeficiency Due To Zap70 Deficiency	Recurrent bacterial skin infections, Autoimmune hemolytic anemia, Skin rash, Pneumonia, Autoimmun...	ORPHA:911
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity	Chronic oral candidiasis, Autoimmune hemolytic anemia, Psoriasiform dermatitis, Recurrent respira...	OMIM:606367
Kid Syndrome	Angular cheilitis, Equinus calcaneus, Scarring alopecia of scalp, Posterior blepharitis, Patellar...	ORPHA:477
Sodium-Dependent Multivitamin Transporter Deficiency	Decreased circulating IgG level	OMIM:618973
Rheumatoid Factor-Positive Polyarticular Juvenile Idiopathic Arthritis	Osteopenia, Symmetric polyarthritis, Rheumatoid factor positive, Elevated circulating C-reactive ...	ORPHA:85435
Focal Segmental Glomerulosclerosis 10	Renal insufficiency, Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidney disea...	OMIM:256020
Agammaglobulinemia 1, Autosomal Recessive	Recurrent respiratory infections, Recurrent enteroviral infections, Recurrent pneumonia, Bronchie...	OMIM:601495
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia	Autoimmunity, Eczema, Recurrent pneumonia, Decreased circulating antibody level, Hyperhomocystine...	OMIM:617780
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome	Eunuchoid habitus, Hypoplasia of penis, Small scrotum, Short stature, Abnormal rib morphology, De...	ORPHA:2234
Papa Syndrome	Increased inflammatory response, Myositis, Acne, Proteinuria, Pustule, Limitation of joint mobili...	ORPHA:69126
Igg4-Related Retroperitoneal Fibrosis	Rheumatoid factor positive, Elevated circulating C-reactive protein concentration, Anti-thyroid p...	ORPHA:49041
Thrombocytopenia 1	Epistaxis, Eczema, Increased circulating IgA level, Increased circulating IgE level, Joint hemorr...	OMIM:313900
Inflammatory Skin And Bowel Disease, Neonatal, 2	Pustule, Increased circulating IgE level, Recurrent pneumonia, Hypertension, Recurrent bronchiolitis	OMIM:616069
Immunodeficiency 92	Recurrent oral herpes, Osteomyelitis, Cholangitis, Pneumonia, Persistent CMV viremia, BCGosis, Sc...	OMIM:619652
Idiopathic Chronic Eosinophilic Pneumonia	Autoimmunity, Elevated circulating C-reactive protein concentration, Crackles, Nonproductive coug...	ORPHA:2902
Immunodeficiency 105	Skin rash, Decreased circulating antibody level, Decreased circulating total IgM, Decreased circu...	OMIM:619924
Ichthyosis, Congenital, Autosomal Recessive 11	Curly hair, Brittle hair, Sparse eyelashes, Corneal opacity, Curly eyelashes, Sparse eyebrow, Spa...	OMIM:602400
Immunodeficiency 7	Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Hypereosinophilia, Patchy alopecia, Neut...	OMIM:615387
Immunodeficiency 32B	Hepatomegaly, Neutrophilia, Eosinophilia, Splenomegaly, Thrombocytopenia, Impaired oxidative burs...	OMIM:226990
Premature Ovarian Failure 18	Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Irregular menstr...	OMIM:619203
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
Mosaic Trisomy 14	Hypoplasia of penis, Hypospadias, Camptodactyly of finger, Cryptorchidism, Abnormal rib morpholog...	ORPHA:1703
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2	Short stature, Abnormal rib morphology, Low posterior hairline, Azoospermia, Bicornuate uterus, A...	ORPHA:2578
Premature Ovarian Failure 2B	Premature ovarian insufficiency, Primary amenorrhea, Female infertility, Delayed puberty	OMIM:300604
Oocyte/Zygote/Embryo Maturation Arrest 14	Oocyte maturation arrest, Female infertility	OMIM:620276
Oocyte/Zygote/Embryo Maturation Arrest 5	Lack of oocyte pronucleus formation, Female infertility	OMIM:617996
Amed Syndrome, Digenic	Telecanthus, Short stature, Hypoplasia of the uterus, Long thumb, Failure to thrive	OMIM:619151
Immunodeficiency 91 And Hyperinflammation	Renal insufficiency, Membranoproliferative glomerulonephritis, Maculopapular exanthema, Elevated ...	OMIM:619644
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1	Sinusitis, Pneumonia, Bronchiectasis, Increased circulating IgM level, Decreased circulating IgA ...	OMIM:242860
X-Linked Immunoneurologic Disorder	Recurrent respiratory infections, Decreased circulating IgG2 level, Functional abnormality of the...	ORPHA:2571
Immunodeficiency 110 With Lymphoproliferation	Autoimmune hemolytic anemia, Recurrent skin infections, Recurrent viral infections, Recurrent pne...	OMIM:614868
Kimura Disease	Eosinophilia	ORPHA:482
Immunodeficiency 30	Recurrent mycobacterial infections, Recurrent infections	OMIM:614891
Pneumocystosis	Respiratory failure requiring assisted ventilation, Pneumocystis jirovecii pneumonia, Nonproducti...	ORPHA:723
Nephrotic Syndrome, Type 6	Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidney disease, Focal segmental g...	OMIM:614196
Eosinophilopenia	Decreased eosinophil count	OMIM:131430
Immunodeficiency 15B	Recurrent infections, Agammaglobulinemia, Decreased circulating antibody level, Decreased lymphoc...	OMIM:615592
Nephrotic Syndrome, Type 16	Hematuria, Nephrotic syndrome, Proteinuria, Minimal change glomerulonephritis	OMIM:617783
Autoimmune Disease, Multisystem, Infantile-Onset, 1	Autoimmune hemolytic anemia, Autoimmunity, Eczema, Autoimmune thrombocytopenia, Recurrent upper r...	OMIM:615952
Oocyte/Zygote/Embryo Maturation Arrest 10	Female infertility	OMIM:619176
Ficolin 3 Deficiency	Recurrent Staphylococcus aureus infections, Necrotizing enterocolitis, Recurrent abscess formatio...	OMIM:613860
Pemphigus Vulgaris, Familial	Autoimmune antibody positivity, Autoimmunity	OMIM:169610
Trichothiodystrophy 3, Photosensitive	Recurrent infections, Increased circulating IgA level	OMIM:616395
Acromesomelic Dysplasia 3	Carpal synostosis, Hypoplasia of the ulna, Brachydactyly, Hypergonadotropic hypogonadism, Tarsal ...	OMIM:609441
Oocyte/Zygote/Embryo Maturation Arrest 8	Female infertility	OMIM:619009
Oocyte/Zygote/Embryo Maturation Arrest 13	Female infertility	OMIM:620154
Dyskeratosis Congenita	Neoplasm of the pancreas, Abnormal eyebrow morphology, Alopecia, Coarse metaphyseal trabeculariza...	ORPHA:1775
Xeroderma Pigmentosum	Conjunctival telangiectasia, Alopecia, Entropion, Short stature, Cataract, Keratitis, Cryptorchid...	ORPHA:910
Hyperprolactinemia	Female infertility, Menorrhagia, Oligomenorrhea, Increased circulating prolactin concentration	OMIM:615555
Immunoglobulin Kappa Light Chain Deficiency	Recurrent respiratory infections, Recurrent infections, Abnormal immunoglobulin level	OMIM:614102
Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type	Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level	OMIM:300861
Eec Syndrome	Aplasia/Hypoplasia of the thumb, Decreased response to growth hormone stimulation test, Proximal ...	ORPHA:1896
Oocyte/Zygote/Embryo Maturation Arrest 12	Female infertility	OMIM:619697
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia	Hypogonadotropic hypogonadism, Cryptorchidism, Primary amenorrhea, Hypoplasia of the uterus, Azoo...	OMIM:614837
Cinca Syndrome	Papilledema, Eosinophilia, Leukocytosis, Hepatosplenomegaly, Anemia	OMIM:607115
Immunodeficiency 97 With Autoinflammation	Recurrent sinopulmonary infections, Autoimmune hemolytic anemia, Hypertriglyceridemia, Recurrent ...	OMIM:619802
Hemosiderosis, Pulmonary, With Deficiency Of Gamma-A Globulin	Decreased circulating IgA level	OMIM:235500
Pauci-Immune Glomerulonephritis	Renal interstitial immunoglobulin deposits, Tubulointerstitial nephritis, Cough, Nephrotic range ...	ORPHA:93126
Immunodeficiency 37	Recurrent infections, Colitis, Infectious encephalitis, Decreased circulating antibody level	OMIM:616098
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency	Hypoplasia of the vagina, Dysmenorrhea, Ambiguous genitalia, male, Micropenis, Hypospadias, Short...	ORPHA:90796
Autoimmune Disease	Autoimmune antibody positivity, Autoimmunity	OMIM:109100
Neutropenia, Severe Congenital, 5, Autosomal Recessive	Increased circulating antibody level, Enlarged kidney, Recurrent infections	OMIM:615285
Subacute Inflammatory Demyelinating Polyneuropathy	Limitation of movement at ankles, Severe infection, Increased circulating IgG level, Limited elbo...	ORPHA:206594
Brucellosis	Rheumatoid factor positive, Elevated circulating C-reactive protein concentration, Knee osteoarth...	ORPHA:1304
Sneddon Syndrome	Antiphospholipid antibody positivity, Cerebral hemorrhage, Decreased circulating total IgM, Hyper...	OMIM:182410
Oligoarticular Juvenile Idiopathic Arthritis	Autoimmunity, Antinuclear antibody positivity, Knee osteoarthritis, Oligoarthritis, Uveitis, Incr...	ORPHA:85410
Familial Hemophagocytic Lymphohistiocytosis	Increased circulating interleukin 6 concentration, Hypertriglyceridemia, Maculopapular exanthema,...	ORPHA:540
Myelolymphatic Insufficiency	Recurrent bacterial infections, Recurrent viral infections	OMIM:310350
Flotch Syndrome	Sparse eyelashes, Abnormal eyelid morphology, Abnormal eyelash morphology, Blepharitis, Inflammat...	ORPHA:2045
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome	Abnormal eyelid morphology, Uveitis, Conjunctivitis, Sparse hair, Absent eyebrow, Alopecia, Abnor...	ORPHA:2273
Eosinophil Peroxidase Deficiency	Eosinophil nuclear hypersegmentation	OMIM:261500
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Respiratory distress, Flexion contracture, Sepsis, Conjunctivitis, Hypoalbuminemia, Decreased cir...	ORPHA:505248
Igg4-Related Dacryoadenitis And Sialadenitis	Myositis, Autoimmunity, Increased circulating IgG4 level, Increased circulating IgA level, Antinu...	ORPHA:79078
Roifman Syndrome	Noncompaction cardiomyopathy, Hepatomegaly, Ventricular septal defect, Eosinophilia, Retinal dyst...	OMIM:616651
Lymphoproliferative Syndrome, X-Linked, 2	Recurrent respiratory infections, Hypertriglyceridemia, Acne, Recurrent skin infections, Erythema...	OMIM:300635
Premature Ovarian Failure 19	Secondary amenorrhea, Premature ovarian insufficiency, Irregular menstruation, Female infertility	OMIM:619245
Systemic Lupus Erythematosus 17	Hypertensive crisis, Autoimmune thrombocytopenia, Antinuclear antibody positivity, Raynaud phenom...	OMIM:301080
Tularemia	Respiratory distress, Brain abscess, Tachycardia, Skin rash, Pneumonia, Erythema nodosum, Meningi...	ORPHA:3392
Prolidase Deficiency	Eczema, Hyperimidodipeptiduria, Asthma, Recurrent pneumonia, Crusting erythematous dermatitis, Di...	OMIM:170100
Brachydactylous Dwarfism, Mseleni Type	Osteopenia, Increased inflammatory response, Protrusio acetabuli, Autoimmunity, Limitation of joi...	ORPHA:2619
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1	Absence of Stensen duct, Decreased response to growth hormone stimulation test, Transverse vagina...	OMIM:129900
Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency	Recurrent bacterial infections, Recurrent staphylococcal infections, Recurrent streptococcus pneu...	ORPHA:70592
Acrodermatitis Enteropathica	Abnormal eyebrow morphology, Alopecia, Short stature, Abnormal eyelid morphology, Pustule, Cornea...	ORPHA:37
Cd8 Deficiency, Familial	Recurrent respiratory infections, Recurrent bacterial infections, Bronchiectasis, Recurrent viral...	OMIM:608957
Nephrotic Syndrome, Type 11	Diffuse mesangial sclerosis, Proteinuria, Minimal change glomerulonephritis, Dilated cardiomyopat...	OMIM:616730
Psoriasis-Related Juvenile Idiopathic Arthritis	Abnormality of the knee, Anterior uveitis, Psoriasiform dermatitis, Generalized morning stiffness...	ORPHA:85436
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus	Streak ovary, Premature ovarian insufficiency, Duplicated lacrimal punctum, Elevated circulating ...	ORPHA:572333
Intellectual Developmental Disorder With Speech Delay, Dysmorphic Facies, And T-Cell Abnormalities	Eosinophilia, Thin eyebrow, Abnormally low T cell receptor excision circle level	OMIM:618092
Immunodeficiency 67	Increased circulating IgE level, Recurrent streptococcal infections, Recurrent staphylococcal inf...	OMIM:607676
Peeling Skin Syndrome 1	Eosinophilia, Brittle hair, Nail dystrophy	OMIM:270300
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome	Broad hallux phalanx, Hypoplasia of penis, Toe syndactyly, Slow-growing hair, Short stature, Meta...	ORPHA:3082
Granulomatous disease with defect in neutrophil chemotaxis	Impaired neutrophil killing of staphylococci, Recurrent staphylococcal infections	OMIM:233670
Hemorrhagic Fever-Renal Syndrome	Respiratory distress, Increased circulating interleukin 6 concentration, Anuria, Acute tubulointe...	ORPHA:340
Mu-Heavy Chain Disease	Bence Jones Proteinuria, Osteoporosis, Osteolysis, Increased circulating antibody level, Nephropathy	ORPHA:100024
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3	Absence of Stensen duct, Decreased response to growth hormone stimulation test, Transverse vagina...	OMIM:604292
Renpenning Syndrome	Abnormal hairshaft morphology, Alopecia, Epicanthus, Hypospadias, Severe short stature, Cachexia,...	ORPHA:3242
Complete Androgen Insensitivity Syndrome	Male infertility, Acne, Abnormal uterine cervix morphology, Sparse axillary hair, Elevated circul...	ORPHA:99429
Estrogen Resistance	Acne, Primary amenorrhea, Polycystic ovaries, Hypoplasia of the uterus, Breast aplasia, Delayed p...	OMIM:615363
Autosomal Agammaglobulinemia	Recurrent respiratory infections, Sinusitis, Osteomyelitis, Skin rash, Recurrent skin infections,...	ORPHA:33110
Microcephalic Primordial Dwarfism, Toriello Type	Decreased circulating total IgM, Decreased circulating IgG level, Recurrent respiratory infections	ORPHA:2643
Palmoplantar Keratoderma, Epidermolytic, 1	Increased circulating IgE level	OMIM:144200
Poikiloderma With Neutropenia	Short stature, Skin rash, Sparse eyebrow, Recurrent pneumonia, Nasolacrimal duct obstruction, Low...	OMIM:604173
Systemic Lupus Erythematosus	Proteinuria, Lupus nephritis, Pyuria, Antinuclear antibody positivity, Discoid lupus rash, Raynau...	ORPHA:536
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency	Recurrent respiratory infections, Skin rash, Partial IgA deficiency, Pustule, Recurrent viral inf...	ORPHA:35078
X-Linked Agammaglobulinemia	Recurrent cutaneous abscess formation, Sinusitis, Osteomyelitis, Autoimmunity, Skin rash, Recurre...	ORPHA:47
Hydatidiform Mole, Recurrent, 3	Female infertility	OMIM:618431
Hydatidiform Mole, Recurrent, 4	Female infertility	OMIM:618432
Systemic Sclerosis	Elevated circulating creatine kinase concentration, Flexion contracture, Intestinal bleeding, Abn...	ORPHA:90291
Coccidioidomycosis	Respiratory distress, Increased circulating IgG level, Morbilliform rash, Cough, Abnormality of t...	ORPHA:228123
Cherubism	Macular scar, Marcus Gunn pupil, Optic neuropathy	OMIM:118400
Chromosome 16Q22 Deletion Syndrome	Epicanthus, Prominent metopic ridge, Small for gestational age, Hypospadias, Highly arched eyebro...	OMIM:614541
Tempi Syndrome	Transudative pleural effusion, Abnormality of the kidney, Telangiectasia, Intracranial hemorrhage...	ORPHA:284227
Autosomal Dominant Spondylocostal Dysostosis	Severe short stature, Missing ribs, Short thorax, Abnormal rib morphology, Spina bifida occulta, ...	ORPHA:1797
Immunodeficiency 46	Recurrent sinopulmonary infections, Sepsis, Decreased circulating antibody level, Conjunctivitis,...	OMIM:616740
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly	Postaxial polydactyly, Lateral clavicle hook, Cryptorchidism, Obesity, Bell-shaped thorax, Short ...	OMIM:615633
Cystic Echinococcosis	Invasive parasitic infection, Unusual infection, Asthma, Renal cyst, Membranous nephropathy, Incr...	ORPHA:400
Autoinflammatory Disease, Systemic, X-Linked	Anterior uveitis, Complete or near-complete absence of specific antibody response to unconjugated...	OMIM:301081
Immunodeficiency 38 With Basal Ganglia Calcification	Recurrent mycobacterial infections	OMIM:616126
Immunodeficiency 11A	Recurrent respiratory infections, Pneumocystis jirovecii pneumonia, Decreased circulating antibod...	OMIM:615206
Ifap Syndrome 2	Cataract, Angular cheilitis, Keratitis, Posterior blepharitis, Keratoconjunctivitis sicca, Nail d...	OMIM:619016
Ectodermal Dysplasia 15, Hypohidrotic/Hair Type	Sparse scalp hair, Sparse eyelashes, Slow-growing hair, Eczema, Sparse hair, Blepharitis, Sparse ...	OMIM:618535
46,Xy Sex Reversal 3	Penoscrotal hypospadias, Elevated circulating luteinizing hormone level, Hypoplasia of the uterus...	OMIM:612965
Pyoderma Gangrenosum	Myositis, Pustule, Inflammation of the large intestine, Increased circulating antibody level, Rhe...	ORPHA:48104
Renal Cysts And Diabetes Syndrome	Hypospadias, Gout, Hypoplasia of the uterus, Bicornuate uterus, Epididymal cyst, Pancreatic hypop...	OMIM:137920
Proteasome-Associated Autoinflammatory Syndrome 1	Decreased HDL cholesterol concentration, Increased circulating interleukin 6 concentration, Eleva...	OMIM:256040
Immunodeficiency 98 With Autoinflammation, X-Linked	Autoimmune hemolytic anemia, Pneumocystis jirovecii pneumonia, Recurrent infections, Bone marrow ...	OMIM:301078
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome	Autoimmune hemolytic anemia, Autoimmunity, Autoimmune thrombocytopenia, Hepatitis, Systemic lupus...	ORPHA:444463
Roifman Syndrome	Noncompaction cardiomyopathy, Retinal dystrophy, Eosinophilia, Prominent eyelashes, Hepatosplenom...	ORPHA:353298
10Q22.3Q23.3 Microduplication Syndrome	Abnormal clavicle morphology, Hypospadias, Abnormal rib morphology, Upslanted palpebral fissure, ...	ORPHA:276422
Immunodeficiency 28	Recurrent mycobacterial infections	OMIM:614889
Neutrophil Actin Dysfunction	Recurrent bacterial infections	OMIM:257150
Omenn Syndrome	Hepatomegaly, Alopecia, Eosinophilia, Splenomegaly, Leukocytosis, Anemia, Abnormal lymphocyte mor...	ORPHA:39041
Autoinflammatory-Pancytopenia Syndrome	Arthropathy, Membranoproliferative glomerulonephritis, Proteinuria, Intestinal inflammation, Chil...	OMIM:619858
Complement Component 5 Deficiency	Reduced hemolytic complement activity, Recurrent Neisserial infections, Generalized seborrheic de...	OMIM:609536
Immunodeficiency 93 And Hypertrophic Cardiomyopathy	Wolff-Parkinson-White syndrome, Tricuspid regurgitation, Bronchiectasis, Agammaglobulinemia, Decr...	OMIM:619705
Testicular Regression Syndrome	Abnormal male internal genitalia morphology, Hypoplasia of penis, Male pseudohermaphroditism, Dec...	ORPHA:983
Esophagitis, Eosinophilic, 2	Eosinophilia	OMIM:613412
Esophagitis, Eosinophilic, 1	Eosinophilia	OMIM:610247
Rift Valley Fever	Skin rash, Hematemesis, Severe viral infection, Hepatitis, Uveitis, Retinal hemorrhage, Hematuria...	ORPHA:319251
Microcephaly-Glomerulonephritis-Marfanoid Habitus Syndrome	Joint laxity, Chronic kidney disease, Glomerulonephritis	ORPHA:2172
Q Fever	Respiratory distress, Rheumatoid factor positive, Abnormal left ventricular function, Cholecystit...	ORPHA:781
Primary Sjögren Syndrome	Myositis, Chronic active hepatitis, Nonproductive cough, Tubulointerstitial nephritis, Decreased ...	ORPHA:289390
Adult-Onset Nemaline Myopathy	Reduced vital capacity, Respiratory insufficiency due to muscle weakness, Dilated cardiomyopathy,...	ORPHA:171442
46,Xy Sex Reversal 11	Abnormal internal genitalia, Elevated circulating luteinizing hormone level, Primary amenorrhea, ...	OMIM:273250
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance	Minimal change glomerulonephritis, Pulmonary embolism, Dyspnea, Hyperlipidemia, Chronic kidney di...	ORPHA:567546
Tn Polyagglutination Syndrome	Autoimmunity	OMIM:300622
Genetic Steroid-Resistant Nephrotic Syndrome	Diffuse mesangial sclerosis, Foamy urine, Proteinuria, Minimal change glomerulonephritis, Periton...	ORPHA:656
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome	Hypoplasia of penis, Cataract, Cryptorchidism, Abnormal rib morphology, Disproportionate short-li...	ORPHA:2772
Immunoneurologic Disorder, X-Linked	Decreased circulating IgG2 level, Functional abnormality of the bladder	OMIM:300076
Inclusion Body Myositis	Autoimmunity, Elevated circulating creatine kinase concentration	ORPHA:611
Netherton Syndrome	Recurrent respiratory infections, Recurrent skin infections, Allergic rhinitis, Eczema, Asthma, I...	OMIM:256500
Immunodeficiency 31A	Herpes simplex encephalitis, Recurrent mycobacterium avium complex infections, BCGitis, Recurrent...	OMIM:614892
Intellectual Developmental Disorder With Microcephaly And With Or Without Ocular Malformations Or Hypogonadotropic Hypogonadism	Sparse scalp hair, Short stature, Decreased response to growth hormone stimulation test, Highly a...	OMIM:615866
Omenn Syndrome	Hepatomegaly, Alopecia, Severe B lymphocytopenia, Eosinophilia, Splenomegaly, Thrombocytopenia, H...	OMIM:603554
Oocyte/Zygote/Embryo Maturation Arrest 11	Female infertility	OMIM:619643
Oocyte/Zygote/Embryo Maturation Arrest 7	Female infertility	OMIM:618550
Galloway-Mowat Syndrome 7	Diffuse mesangial sclerosis, Hypercholesterolemia, Eczema, Proteinuria, Minimal change glomerulon...	OMIM:618348
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
Myeloma, Multiple	Paraproteinemia	OMIM:254500
Sweet Syndrome	Predominantly dermal neutrophilic infiltrate, Increased circulating interleukin 6 concentration, ...	ORPHA:3243
Immunodeficiency 31B	Recurrent mycobacterial infections, Herpes simplex encephalitis, Recurrent viral infections	OMIM:613796
Drug-Induced Lupus Erythematosus	Pericarditis, Elevated circulating creatine kinase concentration, Elevated circulating C-reactive...	ORPHA:231111
Membranoproliferative Glomerulonephritis, X-Linked	Membranoproliferative glomerulonephritis, Cardiac shunt	OMIM:305800
Estrogen Resistance Syndrome	Acne, Abnormality of the pubic hair, Enlarged polycystic ovaries, Increased circulating gonadotro...	ORPHA:785
Netherton Syndrome	Recurrent respiratory infections, Skin rash, Eczema, Ectopic kidney, Asthma, Increased circulatin...	ORPHA:634
Olmsted Syndrome, X-Linked	Posterior blepharitis, Blepharitis, Alopecia totalis	OMIM:300918
Aromatase Deficiency	Macroorchidism, postpubertal, Male infertility, Eunuchoid habitus, Hypergonadotropic hypogonadism...	ORPHA:91
Myoectodermal Gonadal Dysgenesis Syndrome	Clitoral hypoplasia, Cutaneous finger syndactyly, Short palm, Short stature, Elevated circulating...	OMIM:618419
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis	Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level	OMIM:611926
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies	Osteopenia, Chronic oral candidiasis, Recurrent urinary tract infections, Psoriasiform dermatitis...	ORPHA:221139
Immunodeficiency 57 With Autoinflammation	Recurrent respiratory infections, Skin rash, Gastritis, Perianal abscess, Bronchiectasis, Decreas...	OMIM:618108
Actinic Prurigo	Cheilitis, Pyoderma, Glomerulonephritis	OMIM:174770
Wells Syndrome	Eosinophilia	ORPHA:901
46,Xy Sex Reversal 4	Distal symphalangism, Hypergonadotropic hypogonadism, Agonadism, Upslanted palpebral fissure, Sex...	OMIM:154230
Inflammatory Skin And Bowel Disease, Neonatal, 1	Pustule, Failure to thrive, Blepharitis, Erythroderma	OMIM:614328
Specific Granule Deficiency 1	Impaired neutrophil bactericidal activity, Recurrent bacterial infections	OMIM:245480
Lymphoid Interstitial Pneumonia	Skin rash, Autoimmunity, Eczema, Crackles, Raynaud phenomenon, Dyspnea, Wheezing, Autoimmune anti...	ORPHA:79128
O'Sullivan-Mcleod Syndrome	Tremor, Eosinophilia	ORPHA:99965
Riddle Syndrome	Conjunctival telangiectasia, Pneumonia, Elevated circulating alpha-fetoprotein concentration, Rec...	ORPHA:420741
Xq28 (MECP2) duplication	Recurrent respiratory infections, Functional abnormality of the bladder, Decreased circulating Ig...	DECIPHER:45
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome	Omphalocele, Finger syndactyly, Abnormal scapula morphology, Congenital diaphragmatic hernia, Apl...	ORPHA:2141
46,Xy Sex Reversal 7	Streak ovary, Hypoplasia of the fallopian tube, Primary amenorrhea, Hypoplasia of the uterus, Sex...	OMIM:233420
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome	Omphalocele, Abnormal clavicle morphology, Bowing of the long bones, Cataract, Rhizomelia, Proxim...	ORPHA:93267
Autoinflammation, Immune Dysregulation, And Eosinophilia	Recurrent viral infections, Asthma, Atopic dermatitis, Membranous nephropathy, Nephrotic syndrome...	OMIM:618999
Cornelia De Lange Syndrome 5	Telecanthus, Toe syndactyly, Short stature, Highly arched eyebrow, Proximal placement of thumb, P...	OMIM:300882
Antithrombin Iii Deficiency	Arterial occlusion, Pulmonary embolism	OMIM:613118
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias	Absent specific antibody response, Recurrent sinopulmonary infections, Autoimmune thrombocytopeni...	OMIM:619846
Autosomal Dominant Severe Congenital Neutropenia	Acute myeloid leukemia, Aplastic anemia, Eosinophilia, Acute lymphoblastic leukemia, Monocytosis,...	ORPHA:486
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome	Epicanthus, Brachydactyly, Proportionate shortening of all digits, Tapered finger, Synophrys, Sma...	ORPHA:280633
Galloway-Mowat Syndrome 2, X-Linked	Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidney disease, Nephrotic syndrom...	OMIM:301006
Meckel Syndrome 12	Rocker bottom foot, Antecubital pterygium, Hypoplasia of the uterus, Arthrogryposis multiplex con...	OMIM:616258
Peripartum Cardiomyopathy	Crackles, Ventricular tachycardia, Left bundle branch block, Increased circulating interferon-gam...	ORPHA:563
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies	Superior rib anomalies, Male hypogonadism, Hypergonadotropic hypogonadism	OMIM:307500
Atopic Keratoconjunctivitis	Corneal opacity, Abnormal eyelid morphology, Keratitis, Loss of eyelashes, Keratoconjunctivitis s...	ORPHA:163934
Eosinophilic Fasciitis	Abnormal eosinophil morphology, Eosinophilia	ORPHA:3165
Femoral-Facial Syndrome	Inguinal hernia, Short femur, Short stature, Cryptorchidism, Long penis, Rib fusion, Abnormal rib...	ORPHA:1988
Juberg-Hayward Syndrome	Abnormal eyebrow morphology, Severe short stature, Hypospadias, Toe syndactyly, Highly arched eye...	ORPHA:2319
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia	Recurrent respiratory infections, Decreased lymphocyte proliferation in response to anti-CD3, Par...	OMIM:618986
Lymphatic Filariasis	Proteinuria, Ankle swelling, Glomerulonephritis, Abnormality of the kidney, Circulating immune co...	ORPHA:2035
Immunodeficiency 56	Recurrent infection of the gastrointestinal tract, Recurrent respiratory infections, Pneumocystis...	OMIM:615207
Silver-Russell Syndrome 3	Syndactyly, Small for gestational age, Elbow contracture, Unilateral cryptorchidism, Short statur...	OMIM:616489
Aspergillosis	Sinusitis, Intracranial hemorrhage, Cough, Meningitis, Infectious encephalitis, Abnormality of th...	ORPHA:1163
Idiopathic Bronchiectasis	Myocardial infarction, Crackles, Productive cough, Dyspnea, Wheezing, Emphysema, Bronchiectasis, ...	ORPHA:60033
Immunodeficiency 49	Impaired lymphocyte transformation with phytohemagglutinin, Eosinophilia, T lymphocytopenia, Abno...	OMIM:617237
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy	Recurrent respiratory infections, Candida esophagitis, Eosinophilic infiltration of the esophagus...	OMIM:618213
Neurogenic Thoracic Outlet Syndrome	Abnormal rib morphology	ORPHA:100073
Maturity-Onset Diabetes Of The Young, Type 10	Diabetic ketoacidosis, Hyperglycemia, Diabetes mellitus, Maturity-onset diabetes of the young	OMIM:613370
Three M Syndrome 1	Joint dislocation, Scapular winging, Small for gestational age, Hypospadias, Short stature, Pectu...	OMIM:273750
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly	Proteinuria, Glomerulonephritis, Elevated circulating creatinine concentration, Renal hypoplasia,...	OMIM:614376
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy	Pulmonary embolism, Recurrent infections, Decreased circulating antibody level, Hypoalbuminemia, ...	OMIM:226300
Dystrophic Epidermolysis Bullosa Pruriginosa	Abnormality of the elbow, Increased circulating IgE level, Abnormality of the wrist	ORPHA:89843
Igg4-Related Submandibular Gland Disease	Renal insufficiency, Cholangitis, Increased circulating IgG4 level, Autoimmunity, Abnormality of ...	ORPHA:449432
Lichen Planus Pemphigoides	Conjunctivitis, Blepharitis	ORPHA:254478
Systemic Mastocytosis With Associated Hematologic Neoplasm	Normocytic anemia, Hepatomegaly, Acute myeloid leukemia, Neutrophilia, Eosinophilia, Splenomegaly...	ORPHA:98849
Felty Syndrome	Episcleritis, Recurrent respiratory infections, Pericarditis, Sinusitis, Recurrent urinary tract ...	ORPHA:47612
Encephalitis Lethargica	Stiff neck, Urinary incontinence, Autoimmunity, Recurrent viral infections, Increased circulating...	ORPHA:83600
Hypo- And Hypermelanotic Cutaneous Macules-Retarded Growth-Intellectual Disability Syndrome	Abnormal rib morphology, Short stature	ORPHA:2435
Yellow Fever	Shock, Increased circulating interleukin 6 concentration, Acute pancreatitis, Skin rash, Elevated...	ORPHA:99829
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 1	Eosinophilia	OMIM:253600
Igg4-Related Thyroid Disease	Autoimmunity, Increased circulating IgG4 level, Anti-thyroid peroxidase antibody positivity, Thyr...	ORPHA:64744
Car T Cell Therapy-Associated Cytokine Release Syndrome	Increased inflammatory response, Increased circulating interleukin 6 concentration, Tachycardia, ...	ORPHA:542323
Rasmussen Subacute Encephalitis	Antinuclear antibody positivity, Decreased circulating total IgA, Autoimmunity, Anti-dsDNA antibo...	ORPHA:1929
Partial Androgen Insensitivity Syndrome	Male infertility, Bifid scrotum, Fused labia majora, Clitoral hypertrophy, Hypospadias, Elevated ...	ORPHA:90797
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome	Proteinuria, Nephrotic syndrome, Mucopolysacchariduria, Generalized bone demineralization, Decrea...	OMIM:215250
Aapoaiv Amyloidosis	Atrial flutter, Abnormal cardiac ventricular function, Proteinuria, Atrial fibrillation, Cardiac ...	ORPHA:439232
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections With Or Without Deafness	Recurrent Haemophilus influenzae infections, Chronic sinusitis, Recurrent bronchitis, Otitis media	OMIM:300455
Caffey Disease	Increased circulating antibody level, Respiratory insufficiency	ORPHA:1310
Maturity-Onset Diabetes Of The Young, Type 3	Hyperglycemia, Type II diabetes mellitus, Maturity-onset diabetes of the young	OMIM:600496
Dyskeratosis Congenita, X-Linked	Alopecia, Cataract, Sparse eyelashes, Hypospadias, Short stature, Phimosis, Cryptorchidism, Prema...	OMIM:305000
Preeclampsia	Helicobacter pylori infection, Proteinuria, Autoimmunity, Abnormality of the kidney, Chronic kidn...	ORPHA:275555
Becker Nevus Syndrome	Lipoatrophy, Supernumerary nipple, Pectus excavatum, Hypoplastic labia minora, Abnormal tibia mor...	ORPHA:64755
Secondary Intestinal Lymphangiectasia	Decreased circulating IgG1 level, Autoimmunity, Right ventricular failure, Reduced circulating tr...	ORPHA:90363
Cardiomyopathy-Cataract-Hip Spine Disease Syndrome	Pulmonary embolism, Joint stiffness, Congestive heart failure, Osteoarthritis, Hypertension, Hype...	ORPHA:1345
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation	Hepatomegaly, Lymphopenia, Aplasia of the thymus, Eosinophilia, Splenomegaly, B lymphocytopenia, ...	OMIM:602450
Bronchiolitis Obliterans With Obstructive Pulmonary Disease	Pneumonia, Autoimmunity, Reduced forced expiratory volume in one second, Reduced forced vital cap...	ORPHA:1303
Immunodeficiency 84	Perianal abscess, Recurrent bacterial infections, Persistent EBV viremia	OMIM:619437
Popliteal Pterygium Syndrome	Bifid scrotum, Hypoplasia of the vagina, Small scrotum, Cryptorchidism, Ankyloblepharon, Hypoplas...	OMIM:119500
Isolated Agammaglobulinemia	Recurrent cutaneous abscess formation, Recurrent respiratory infections, Sinusitis, Skin rash, Au...	ORPHA:229717
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease	Absent vas deferens, Hypospadias, Aplasia/Hypoplasia of the pancreas, Papillary cystadenoma of th...	ORPHA:93111
Alport Syndrome 3A, Autosomal Dominant	Renal insufficiency, Glomerular basement membrane lamellation, Proteinuria, Glomerulonephritis, T...	OMIM:104200
Combined Immunodeficiency Due To Crac Channel Dysfunction	Autoimmunity, Pneumonia, Recurrent viral infections, Recurrent mycobacterial infections, Sepsis, ...	ORPHA:169090
Axial Spondylometaphyseal Dysplasia	Thoracic scoliosis, Mild postnatal growth retardation, Proximal femoral metaphyseal irregularity,...	ORPHA:168549
X-Linked Myotubular Myopathy-Abnormal Genitalia Syndrome	Bifid scrotum, Cryptorchidism, Glandular hypospadias, Thin ribs, Blind vagina, Micropenis, Penile...	ORPHA:456328
Alopecia Areata 1	Autoimmunity	OMIM:104000
Acquired Partial Lipodystrophy	Glomerulopathy, Proteinuria, Autoimmunity, Decreased circulating complement C3 concentration, Mic...	ORPHA:79087
Primary Sclerosing Cholangitis	Osteopenia, Recurrent systemic pyogenic infections, Renal insufficiency, Autoimmunity, Spider hem...	ORPHA:171
Riddle Syndrome	Decreased circulating IgG level	OMIM:611943
Proteasome-Associated Autoinflammatory Syndrome 3	Myositis, Sinusitis, Skin rash, Hypertriglyceridemia, Flexion contracture, Recurrent infections, ...	OMIM:617591
Ovarian Dysgenesis 3	Female infertility, Elevated circulating luteinizing hormone level, Primary amenorrhea, Elevated ...	OMIM:614324
Crimean-Congo Hemorrhagic Fever	Bundle branch block, Stiff neck, Elevated circulating creatine kinase concentration, Abnormal lef...	ORPHA:99827
Filippi Syndrome	Ambiguous genitalia, Postnatal growth retardation, Cryptorchidism, 2-4 toe syndactyly, Cutaneous ...	OMIM:272440
Thrombophilia Due To Thrombomodulin Defect	Pulmonary embolism	OMIM:614486
Hypogonadotropic Hypogonadism 13 With Or Without Anosmia	Hypoplasia of the uterus, Hypogonadotropic hypogonadism	OMIM:614842
Silver-Russell Syndrome Due To 7P11.2P13 Microduplication	Prominent fingertip pads, Small for gestational age, Short stature, Postnatal growth retardation,...	ORPHA:231137
Leukocyte Adhesion Deficiency	Sinusitis, Severe periodontitis, Recurrent staphylococcal infections, BCGosis, Sepsis, Conjunctiv...	ORPHA:2968
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency	Bifid scrotum, Bilateral cryptorchidism, Absent pubic hair, Blind vagina, Ambiguous genitalia, ma...	ORPHA:90793
Thrombophilia, X-Linked, Due To Factor Viii Defect	Pulmonary embolism	OMIM:301071
Overlap Myositis	Subluxation of the small joints of the hand, Autoimmunity, Elevated circulating creatine kinase c...	ORPHA:206572
Autoimmune Disease, Multisystem, With Facial Dysmorphism	Recurrent respiratory infections, Autoimmunity, Portal hypertension, Reduced forced expiratory vo...	OMIM:613385
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome	Joint laxity, Hypospadias, Glomerulonephritis, Proteinuria, Hip dislocation, Nephrotic syndrome, ...	OMIM:619428
Primary Intestinal Lymphangiectasia	Cryptococcal meningitis, Decreased circulating antibody level, Decreased circulating total IgM, H...	ORPHA:90362
Thrombophilia Due To Protein C Deficiency, Autosomal Dominant	Pulmonary embolism	OMIM:176860
Epilepsy-Telangiectasia Syndrome	Conjunctival telangiectasia, Decreased circulating IgA level, Decreased circulating antibody level	ORPHA:1951
Renal Agenesis	Absent vas deferens, Aplasia/hypoplasia of the uterus	ORPHA:411709
15Q24 Microdeletion Syndrome	Decreased response to growth hormone stimulation test, Congenital diaphragmatic hernia, Proximal ...	ORPHA:94065
Autosomal Recessive Spondylocostal Dysostosis	Rib segmentation abnormalities, Finger syndactyly, Inguinal hernia, Hypospadias, Camptodactyly of...	ORPHA:2311
Diastrophic Dysplasia	Joint dislocation, Abnormal clavicle morphology, Bowing of the long bones, Camptodactyly of finge...	ORPHA:628
Incontinentia Pigmenti	Hypoplasia of the fovea, Retinal detachment, Alopecia, Eosinophilia, Supernumerary nipple, Retina...	OMIM:308300
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome	Hypoplasia of penis, Hypogonadotropic hypogonadism, Short stature, Abnormal rib morphology, Pectu...	ORPHA:3068
Metatropic Dysplasia	Abnormal metaphyseal vascular invasion, Enlarged joints, Flexion contracture, Long coccyx, Halber...	OMIM:156530
Japanese Encephalitis	Hyponatremia, Respiratory distress, Stiff neck, Genu recurvatum, Meningitis, Elbow flexion contra...	ORPHA:79139
Hydatidiform Mole	Menometrorrhagia, Enlarged uterus	ORPHA:99927
Chromosome 19Q13.11 Deletion Syndrome, Distal	Bifid scrotum, Cutaneous finger syndactyly, Clinodactyly of the 5th finger, Sparse hair, Hypospad...	OMIM:613026
Whim Syndrome	Sinusitis, Severe periodontitis, Pneumonia, Lymphadenitis, Recurrent pneumonia, Recurrent upper r...	ORPHA:51636
46,Xx Ovotesticular Difference Of Sex Development	Bifid scrotum, Abnormal male internal genitalia morphology, Hypoplasia of penis, Small scrotum, H...	ORPHA:2138
Anti-Glomerular Basement Membrane Disease	Glomerulopathy, Renal insufficiency, Proteinuria, Autoimmunity, Vasculitis, Respiratory insuffici...	ORPHA:375
Autosomal Dominant Hyper-Ige Syndrome	Osteopenia, Recurrent respiratory infections, Osteomyelitis, Skin rash, Eczema, Recurrent fractur...	ORPHA:2314
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency	Small for gestational age, Short stature, Postnatal growth retardation, Low anterior hairline, Lo...	ORPHA:73272
Oocyte/Zygote/Embryo Maturation Arrest 17	Female infertility, Amenorrhea	OMIM:620319
Oocyte/Zygote/Embryo Maturation Arrest 20	Female infertility, Amenorrhea	OMIM:620383
Trisomy 13	Cataract, Abnormal eyelash morphology, Cryptorchidism, Postaxial hand polydactyly, Abnormal rib m...	ORPHA:3378
3M Syndrome	Congenital hip dislocation, Hypoplastic ischia, Enlarged thorax, Clinodactyly of the 5th finger, ...	ORPHA:2616
Ebola Hemorrhagic Fever	Gastrointestinal hemorrhage, Acute pancreatitis, Maculopapular exanthema, Dyspnea, Sepsis, Hepati...	ORPHA:319218
Tick-Borne Encephalitis	Stiff neck, Elevated circulating C-reactive protein concentration, Meningitis, Unusual CNS infect...	ORPHA:297
Mullerian Aplasia And Hyperandrogenism	Abnormal external genitalia, Acne, Primary amenorrhea, Aplasia of the vagina, Aplasia of the fall...	OMIM:158330
Cocaine Intoxication	Respiratory distress, Prolonged QRS complex, Elevated circulating creatine kinase concentration, ...	ORPHA:90068
Prune Belly Syndrome	Congenital hip dislocation, Pectus excavatum, Cryptorchidism, Abnormal rib morphology, Decreased ...	ORPHA:2970
Silver-Russell Syndrome Due To A Point Mutation	Bifid scrotum, Syndactyly, Inguinal hernia, Small for gestational age, Dysmenorrhea, Hypospadias,...	ORPHA:397590
Sea-Blue Histiocytosis	Blepharitis	ORPHA:158029
Immunodeficiency 27B	Recurrent mycobacterial infections, Osteomyelitis, Recurrent mycobacterium avium complex infectio...	OMIM:615978
Congenital Analbuminemia	Hyperlipidemia, Increased alpha-globulin, Increased circulating antibody level, Hypoalbuminemia, ...	ORPHA:86816
Wiedemann-Steiner Syndrome	Elbow hypertrichosis, Synophrys, Clinodactyly of the 5th finger, Short phalanx of finger, General...	OMIM:605130
Immunodeficiency 58	Colitis, Chronic otitis media, Recurrent cutaneous abscess formation, Chronic pulmonary obstructi...	OMIM:618131
Hereditary Pulmonary Alveolar Proteinosis	Abnormal circulating protein concentration, Respiratory distress, Respiratory failure requiring a...	ORPHA:264675
Immunodeficiency 17	Recurrent respiratory infections, Autoimmune hemolytic anemia, Eczema, Chronic decreased cirulati...	OMIM:615607
Mayer-Rokitansky-Kuster-Hauser Syndrome	Hypoplasia of the uterus, Aplasia of the vagina, Amenorrhea	OMIM:277000
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii	Distal symphalangism, Coxa vara, Tibial bowing, Narrow chest, Hypoplastic iliac wing, Clinodactyl...	OMIM:210720
Hereditary Thrombophilia Due To Congenital Antithrombin Deficiency	Pulmonary embolism	ORPHA:82
Lymphangiectasia, Intestinal	Decreased circulating IgG level, Neonatal hypoproteinemia	OMIM:152800
Inflammatory Pseudotumor Of The Liver	Increased hepatitis B virus antibody level, Autoimmune antibody positivity, Elevated circulating ...	ORPHA:90003
Vulvovaginal Gingival Syndrome	Abnormality of tumor necrosis factor secretion	ORPHA:83453
46,Xx Sex Reversal 2	Bifid scrotum, Hypoplasia of the vagina, Small scrotum, True hermaphroditism, Ovotestis, Perineal...	OMIM:278850
Autosomal Recessive Multiple Pterygium Syndrome	Hypoplasia of penis, Small scrotum, Multiple pterygia, Abnormal eyelid morphology, Symphalangism ...	ORPHA:2990
Meier-Gorlin Syndrome 1	Genu recurvatum, Lateral clavicle hook, Flat glenoid fossa, Flexion contracture, Pectus carinatum...	OMIM:224690
Thrombophilia Due To Thrombin Defect	Pulmonary embolism	OMIM:188050
Bloom Syndrome	Recurrent herpes, Severe varicella zoster infection, Uveitis, Otitis media, Decreased circulating...	ORPHA:125
Scarf Syndrome	Bifid scrotum, Epicanthus, Inguinal hernia, Craniosynostosis, Cryptorchidism, Low posterior hairl...	ORPHA:3134
Vici Syndrome	Decreased circulating IgG level, Recurrent respiratory infections, Joint stiffness, Ureteral atre...	ORPHA:1493
Igg4-Related Pachymeningitis	Sinusitis, Increased circulating IgG4 level, Elevated circulating C-reactive protein concentratio...	ORPHA:449427
Autoimmune Polyendocrinopathy Type 4	Osteopenia, Atrophic gastritis, Antiphospholipid antibody positivity, Autoimmunity, Autoimmune th...	ORPHA:227990
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome	Increased circulating IgE level	ORPHA:1858
Chronic Thromboembolic Pulmonary Hypertension	Cardiac shunt, Elevated circulating C-reactive protein concentration, Pulmonary embolism, Abnorma...	ORPHA:70591
Eosinophilic Gastroenteritis	Leukocytosis, Eosinophilia, Anemia	ORPHA:2070
Antisynthetase Syndrome	Joint dislocation, Recurrent respiratory infections, Myositis, Aortic regurgitation, Skin rash, A...	ORPHA:81
Idiopathic Acute Eosinophilic Pneumonia	Abnormal eosinophil morphology	ORPHA:724
Long Qt Syndrome 13	Cardiac arrest, Pulmonary embolism, Congestive heart failure, Permanent atrial fibrillation, Atri...	OMIM:613485
Ulnar-Mammary Syndrome	Abnormal clavicle morphology, Hypoplasia of penis, Abnormal finger morphology, Pectus carinatum, ...	ORPHA:3138
Oculocerebrocutaneous Syndrome	Finger syndactyly, Alopecia, Congenital hip dislocation, Corneal opacity, Congenital diaphragmati...	ORPHA:1647
Granulomatous Disease, Chronic, Autosomal Recessive, 1	Recurrent Aspergillus infections, Recurrent bacterial skin infections, Recurrent Klebsiella infec...	OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2	Recurrent Aspergillus infections, Recurrent bacterial skin infections, Recurrent Klebsiella infec...	OMIM:233710
Wiskott-Aldrich Syndrome	Sinusitis, Eczema, Abnormality of the menstrual cycle, Keratitis, Arthritis, Inflammation of the ...	ORPHA:906
Waldenström Macroglobulinemia	Gastrointestinal hemorrhage, Renal insufficiency, Epistaxis, Congestive heart failure, Vasculitis...	ORPHA:33226
Thrombocytopenia-Absent Radius Syndrome	Finger syndactyly, Tibial torsion, Aplasia/hypoplasia of the humerus, Absent radius, Coxa valga, ...	ORPHA:3320
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome	Osteopenia, Recurrent herpes, Functional abnormality of the bladder, Infectious encephalitis, Aut...	ORPHA:391487
Systemic Lupus Erythematosus, Susceptibility To, 6	Pericarditis, Abnormality of the kidney, Antinuclear antibody positivity, Systemic lupus erythema...	OMIM:609939
Essential Fructosuria	Abnormal erythrocyte enzyme level, Hyperglycemia	ORPHA:2056
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige	Recurrent respiratory infections, Psoriasiform dermatitis, Recurrent skin infections, Eosinophili...	OMIM:615508
Hereditary Xanthinuria	Arthropathy, Crystalluria, Recurrent urinary tract infections, Hypouricemia, Xanthine nephrolithi...	ORPHA:3467
Candidiasis, Familial, 8	Chronic oral candidiasis, Blepharitis, Cheilitis, Seborrheic dermatitis	OMIM:615527
Woodhouse-Sakati Syndrome	Alopecia, Streak ovary, Premature ovarian insufficiency, Decreased response to growth hormone sti...	ORPHA:3464
Cone-Rod Synaptic Disorder Syndrome, Congenital Nonprogressive	Optic disc pallor, Hyperglycemia, Retinal thinning	OMIM:618970
Pediatric Systemic Lupus Erythematosus	Myositis, Decreased circulating complement C4 concentration, Lupus anticoagulant, Nephritis, Rayn...	ORPHA:93552
Febrile Infection-Related Epilepsy Syndrome	Sinusitis, Autoimmunity, Cough	ORPHA:163703
Granulomatous Disease, Chronic, Autosomal Recessive, 4	Recurrent Aspergillus infections, Recurrent bacterial skin infections, Recurrent Klebsiella infec...	OMIM:233690
Linear Skin Defects With Multiple Congenital Anomalies 1	Cataract, Hypospadias, Short stature, Congenital diaphragmatic hernia, Ovotestis, Sclerocornea, H...	OMIM:309801
Microcephaly-Cervical Spine Fusion Anomalies Syndrome	Abnormal clavicle morphology, Hypospadias, Short stature, Pectus excavatum, Abnormal rib morpholo...	ORPHA:2522
Congenital Disorder Of Glycosylation, Type Iif	Aortic regurgitation, Proteinuria, Recurrent bacterial infections, Aminoaciduria, Decreased plate...	OMIM:603585
Autoimmune Polyendocrinopathy Type 3	Osteopenia, Atrophic gastritis, Antiphospholipid antibody positivity, Autoimmunity, Autoimmune th...	ORPHA:227982
Scarf Syndrome	Barrel-shaped chest, Bifid scrotum, Epicanthus, Inguinal hernia, Cryptorchidism, Low anterior hai...	OMIM:312830
Congenital Disorder Of Glycosylation, Type Ig	Respiratory distress, Hypospadias, Recurrent pneumonia, Recurrent upper respiratory tract infecti...	OMIM:607143
Mucous Membrane Pemphigoid	Autoimmunity	ORPHA:46486
Autoimmune Hypoparathyroidism	Prolonged QT interval, Calcium nephrolithiasis, Increased bone mineral density, Ventricular arrhy...	ORPHA:36913
Rheumatoid Arthritis	Rheumatoid factor positive, Elevated circulating C-reactive protein concentration, Joint stiffnes...	OMIM:180300
Immunodeficiency 47	Tricuspid regurgitation, Decreased circulating total IgG, Decreased circulating copper concentrat...	OMIM:300972
Autosomal Dominant Popliteal Pterygium Syndrome	Bifid scrotum, Finger syndactyly, Small scrotum, Toe syndactyly, Cryptorchidism, Split hand, Abno...	ORPHA:1300
Atrial Septal Defect, Ostium Secundum Type	Bundle branch block, First degree atrioventricular block, Abnormal left ventricular function, Sup...	ORPHA:99103
Myhre Syndrome	External genital hypoplasia, Epispadias, Short palm, Large iliac wing, Abnormal penis morphology,...	ORPHA:2588
Microphthalmia With Limb Anomalies	2-3 toe cutaneous syndactyly, Tibial bowing, Camptodactyly of 2nd-5th fingers, Foot oligodactyly,...	OMIM:206920
Renal And Mullerian Duct Hypoplasia	Hydrocele testis, Anteriorly displaced urethral meatus, Severe postnatal growth retardation, Apla...	OMIM:266810
Hereditary Folate Malabsorption	Pancytopenia, Eosinophilia, Thrombocytopenia, Megaloblastic anemia	ORPHA:90045
Alg12-Cdg	Hyponatremia, Recurrent respiratory infections, Ulnar deviation of the wrist, Hypospadias, Partia...	ORPHA:79324
Ulna And Fibula, Absence Of, With Severe Limb Deficiency	Small scrotum, Pectus carinatum, Femoral bowing, Anteriorly displaced genitalia, Foot oligodactyl...	OMIM:276820
Jeune Syndrome	Abnormal clavicle morphology, Toe syndactyly, Short stature, Postaxial hand polydactyly, Short th...	ORPHA:474
Linear Iga Dermatosis	Renal neoplasm, Inflammation of the large intestine, Autoimmunity, Epistaxis	ORPHA:46488
Mucoepithelial Dysplasia, Hereditary	Alopecia, Eosinophilia, Cor pulmonale, Coarse hair, Nail dystrophy, Sparse hair	OMIM:158310
Goodpasture Syndrome	Anti-glomerular basement membrane-antibody positivity, Renal insufficiency, Proteinuria, Glomerul...	OMIM:233450
Immunodeficiency 82 With Systemic Inflammation	Elevated circulating C-reactive protein concentration, Colitis, Hypoalbuminemia, Recurrent absces...	OMIM:619381
Immunodeficiency 87 And Autoimmunity	Atrophic gastritis, Necrotizing enterocolitis, Autoimmune hemolytic anemia, Hypertriglyceridemia,...	OMIM:619573
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome	Epicanthus, Supernumerary nipple, Cryptorchidism, Postaxial hand polydactyly, Abnormal rib morpho...	ORPHA:2519
Seckel Syndrome 1	11 pairs of ribs, Ivory epiphyses, Hypospadias, Abnormal finger flexion crease, Proportionate sho...	OMIM:210600
Lipodystrophy, Congenital Generalized, Type 4	Osteopenia, Prolonged QT interval, Tachycardia, Hypertriglyceridemia, Atrial fibrillation, Elevat...	OMIM:613327
Leishmaniasis	Rhinitis, Increased circulating antibody level, Hypoalbuminemia	ORPHA:507
Schimke Immunoosseous Dysplasia	Osteopenia, Renal insufficiency, Proteinuria, Transient ischemic attack, Abnormal immunoglobulin ...	OMIM:242900
Gastrointestinal Defects And Immunodeficiency Syndrome 1	Recurrent respiratory infections, Autoimmune hemolytic anemia, Psoriasiform dermatitis, Autoimmun...	OMIM:243150
Interstitial Granulomatous Dermatitis With Arthritis	Inflammatory abnormality of the skin, Elevated circulating C-reactive protein concentration, Rheu...	ORPHA:79099
3Mc Syndrome	Telecanthus, Supernumerary nipple, Highly arched eyebrow, Bilateral cryptorchidism, Postnatal gro...	ORPHA:293843
Cat-Eye Syndrome	Short stature, Abnormal rib morphology, Hip dysplasia, Intrauterine growth retardation, Downslant...	ORPHA:195
Microcephaly 20, Primary, Autosomal Recessive	Hypoplasia of the uterus, Intrauterine growth retardation, Short stature, Vaginal atresia	OMIM:617914
Systemic-Onset Juvenile Idiopathic Arthritis	Anterior uveitis, Pericarditis, Skin rash, Autoimmunity, Elevated circulating C-reactive protein ...	ORPHA:85414
Warburg Micro Syndrome 3	Small scrotum, Cataract, Postnatal growth retardation, Hypoplastic labia minora, Flexion contract...	OMIM:614222
Osteopetrosis, Autosomal Recessive 7	Recurrent pneumonia, Decreased circulating total IgM, Osteopetrosis, Decreased circulating IgG le...	OMIM:612301
Scedosporiosis	Sinusitis, Sepsis, Pulmonary tuberculosis, Cough, Unusual skin infection, Fungal meningitis, Oppo...	ORPHA:449280
Multiple Pterygium Syndrome, Escobar Variant	Multiple joint contractures, Congenital diaphragmatic hernia, Flexion contracture, Knee flexion c...	OMIM:265000
Turner Syndrome Due To Structural X Chromosome Anomalies	Gastrointestinal inflammation, Enlarged thorax, Inflammation of the large intestine, Hashimoto th...	ORPHA:99413
Mosaic Monosomy X	Gastrointestinal inflammation, Enlarged thorax, Inflammation of the large intestine, Hashimoto th...	ORPHA:99228
Monosomy X	Gastrointestinal inflammation, Enlarged thorax, Inflammation of the large intestine, Hashimoto th...	ORPHA:99226
Turner Syndrome	Gastrointestinal inflammation, Enlarged thorax, Inflammation of the large intestine, Hashimoto th...	ORPHA:881
Short-Rib Thoracic Dysplasia 17 With Or Without Polydactyly	Short stature, Lateral clavicle hook, Postaxial hand polydactyly, Postaxial foot polydactyly, Tri...	OMIM:617405
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency	Hypoplasia of the vagina, Clitoral hypertrophy, Short stature, Ambiguous genitalia, female, Long ...	OMIM:202010
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies	Epiphyseal dysplasia, Metaphyseal dysplasia, Hypospadias, Decreased response to growth hormone st...	OMIM:614732
Tubulointerstitial Nephritis And Uveitis Syndrome	Elevated circulating C-reactive protein concentration, Renal interstitial edema, Sterile pyuria, ...	ORPHA:91500
Paternal Uniparental Disomy Of Chromosome 1	Membranoproliferative glomerulonephritis, Proteinuria, Hypercalcemia, Recurrent fractures, Cranio...	ORPHA:251004
Microphthalmia, Syndromic 9	Inguinal hernia, Severe short stature, Short stature, Congenital diaphragmatic hernia, Cryptorchi...	OMIM:601186
Mixed-Type Autoimmune Hemolytic Anemia	Abnormal urinary color, Autoimmune hemolytic anemia, Tachycardia, Skin rash, Autoimmunity, System...	ORPHA:90036
Diabetes And Deafness, Maternally Inherited	Cardiomyopathy, Pigmentary retinopathy, Type II diabetes mellitus, Hyperglycemia, Retinal degener...	OMIM:520000
Specific Granule Deficiency 2	Osteopenia, Recurrent pneumonia, Sepsis, Recurrent bacterial infections, Recurrent otitis media	OMIM:617475
Calcific Aortic Disease With Immunologic Abnormalities, Familial	Aortic regurgitation, Aortic valve stenosis, Increased circulating antibody level	OMIM:114065
Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development	Hypoplasia of the ulna, Short femur, Short stature, Absent thumb, Cryptorchidism, Fibular hypopla...	OMIM:612447
46,Xy Partial Gonadal Dysgenesis	Hypoplasia of the vagina, Hypoplasia of penis, Vanishing testis, Micropenis, Ovarian gonadoblasto...	ORPHA:251510
Urban-Rogers-Meyer Syndrome	Hypoplasia of penis, Camptodactyly of finger, Recurrent fractures, Increased circulating IgE leve...	ORPHA:3409
Hyperproinsulinemia	Hyperglycemia, Hyperinsulinemia	OMIM:616214
Dyskeratosis Congenita, Digenic	Decreased circulating total IgM, Decreased circulating IgG level, Recurrent infections, Decreased...	OMIM:620040
Factor V Excess With Spontaneous Thrombosis	Pulmonary embolism	OMIM:134400
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To	Asthma, Eczema, Bone marrow hypocellularity, Systemic lupus erythematosus	OMIM:616871
Silver-Russell Syndrome	Abnormality of male external genitalia, Failure to thrive in infancy, Hypospadias, Cachexia, Shor...	ORPHA:813
Hypotrichosis Simplex Of The Scalp	Atopic dermatitis, Increased circulating IgE level, Allergic rhinitis	ORPHA:90368
Leukocyte Adhesion Deficiency, Type I	Recurrent gram-negative bacterial infections, Osteomyelitis, Elevated circulating C-reactive prot...	OMIM:116920
Pulmonary Alveolar Proteinosis, Acquired	Recurrent respiratory infections, Brain abscess, Pneumonia, Anti-granulocyte-macrophage colony st...	OMIM:610910
Gaucher Disease Type 1	Osteopenia, Increased bone mineral density, Proteinuria, Osteoarthritis, Osteolysis, Hematuria, P...	ORPHA:77259
Spondyloepimetaphyseal Dysplasia, Irapa Type	Short metacarpal, Osteoarthritis, Abnormal joint morphology, Short metatarsal, Abnormal rib morph...	ORPHA:93351
Peters-Plus Syndrome	Hypoplasia of the vagina, Bilobate gallbladder, Proximal placement of thumb, Limited elbow moveme...	OMIM:261540
Acute Generalized Exanthematous Pustulosis	Leukocytosis, Neutrophilia, Eosinophilia, Neutropenia	ORPHA:293173
Cystic Fibrosis	Sinusitis, Absent vas deferens, Bronchiectasis, Failure to thrive, Decreased body mass index	ORPHA:586
Bloom Syndrome	Elevated hemoglobin A1c, Recurrent upper respiratory tract infections, Bronchiectasis, Malar rash...	OMIM:210900
Trisomy 18	Congenital diaphragmatic hernia, Microcornea, Hernia, Iris coloboma, Short stature, Spina bifida,...	ORPHA:3380
Polymyositis	Gastrointestinal hemorrhage, Pericarditis, Elevated circulating creatine kinase concentration, Au...	ORPHA:732
Atrial Septal Defect, Coronary Sinus Type	Bundle branch block, Left-to-right shunt, Abnormally loud pulmonic component of the second heart ...	ORPHA:99104
Woodhouse-Sakati Syndrome	Alopecia, Premature ovarian insufficiency, Hypogonadotropic hypogonadism, Hypergonadotropic hypog...	OMIM:241080
Al Amyloidosis	Gastrointestinal hemorrhage, Abnormal EKG, Renal insufficiency, Increased circulating NT-proBNP c...	ORPHA:85443
Granulomatous Disease, Chronic, X-Linked	Recurrent Aspergillus infections, Recurrent bacterial skin infections, Recurrent Klebsiella infec...	OMIM:306400
Acro-Renal-Mandibular Syndrome	Abnormal clavicle morphology, Hypoplasia of the ulna, Hypoplastic scapulae, Finger syndactyly, Co...	ORPHA:958
Leukonychia Totalis	Abnormal eyelash morphology, Adenoma sebaceum, Blepharitis	ORPHA:2387
Axial Mesodermal Dysplasia Spectrum	Omphalocele, Abnormality of the knee, Short stature, Congenital diaphragmatic hernia, Missing rib...	ORPHA:1834
46,Xx Difference Of Sex Development-Skeletal Anomalies Syndrome	Fused labia minora, Ambiguous genitalia, female, Primary amenorrhea, Deformed humerus, Abnormalit...	ORPHA:2975
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome	Hyponatremia, Psoriasiform dermatitis, Autoimmune thrombocytopenia, Recurrent viral infections, R...	ORPHA:293978
Premature Ovarian Failure 20	Secondary amenorrhea, Female infertility, Elevated circulating follicle stimulating hormone level...	OMIM:619938
Vici Syndrome	Decreased circulating IgG level, Recurrent respiratory infections, Elevated circulating creatine ...	OMIM:242840
Warburg Micro Syndrome 2	Small scrotum, Overlapping toe, Cataract, Postnatal growth retardation, Cryptorchidism, Flexion c...	OMIM:614225
Ataxia-Telangiectasia	Decreased circulating IgG level, Conjunctival telangiectasia, Sinusitis, Recurrent bronchitis, El...	OMIM:208900
Craniodiaphyseal Dysplasia	Diaphyseal thickening, Abnormal rib morphology, Short stature	ORPHA:1513
Igg4-Related Ophthalmic Disease	Sinusitis, Cholangitis, Increased circulating IgG4 level, Elevated circulating C-reactive protein...	ORPHA:449563
Neutropenia, Severe Congenital, X-Linked	Recurrent bacterial infections, Eczema	OMIM:300299
Cardiomyopathy, Familial Hypertrophic, 15	Hyperdynamic left ventricular ejection fraction, Congestive heart failure, Left ventricular outfl...	OMIM:613255
Drug Reaction With Eosinophilia And Systemic Symptoms	Myocarditis, Eosinophilia, Lymphocytosis	ORPHA:139402
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type	Multiple rib fractures, Telecanthus, Short femur, Small for gestational age, Hypospadias, Fractur...	OMIM:616897
Ciliary Dyskinesia, Primary, 37	Chronic rhinitis, Bronchiectasis, Female infertility, Goiter	OMIM:617577
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly	Omphalocele, Syndactyly, Thoracic hypoplasia, Postaxial polydactyly, Lateral clavicle hook, Hypop...	OMIM:617895
Immunodeficiency 10	Recurrent bacterial infections, Autoimmune hemolytic anemia, Recurrent infections	OMIM:612783
Microscopic Polyangiitis	Episcleritis, Increased inflammatory response, Pericarditis, Sinusitis, Skin rash, Autoimmunity, ...	ORPHA:727
Congenital Disorder Of Glycosylation, Type Iib	Hypoventilation, Recurrent fractures, Decreased circulating IgA level, Decreased circulating anti...	OMIM:606056
Intrahepatic Cholestasis Of Pregnancy	Neonatal respiratory distress, Skin rash, Autoimmunity, Abnormal circulating interleukin concentr...	ORPHA:69665
Acquired Ichthyosis	Renal insufficiency, Recurrent skin infections, Autoimmunity	ORPHA:454
Hepatoerythropoietic Porphyria	Recurrent bacterial skin infections, Scarring, Scarring alopecia of scalp, Loss of eyelashes, Ker...	ORPHA:95159
Transcobalamin Ii Deficiency	Decreased circulating total IgM, Decreased circulating IgG level, Methylmalonic aciduria, Decreas...	OMIM:275350
Spondyloenchondrodysplasia	Autoimmune hemolytic anemia, Skin rash, Pneumonia, Autoimmunity, Autoimmune thrombocytopenia, Ant...	ORPHA:1855
Leukocyte Adhesion Deficiency, Type Iii	Recurrent skin infections, Epistaxis, Sepsis, Recurrent bacterial infections, Osteopetrosis	OMIM:612840
Trisomy 1Q	Omphalocele, Small scrotum, Arachnodactyly, Camptodactyly of finger, Congenital diaphragmatic her...	ORPHA:261344
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism	Cataract, Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation test, ...	OMIM:300845
New-Onset Refractory Status Epilepticus	Abnormal circulating interleukin concentration, Infectious encephalitis, Autoimmunity	ORPHA:363558
Eosinophilic Granulomatosis With Polyangiitis	Abnormal pericardium morphology, Eosinophilia, Myocarditis, Endocarditis, Hypertrophic cardiomyop...	ORPHA:183
Vacterl/Vater Association	Omphalocele, Bifid scrotum, Hypoplasia of penis, Finger syndactyly, Hypospadias, Occipital enceph...	ORPHA:887
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia	Skin rash, Recurrent pneumonia, Inflammation of the large intestine, Colonic eosinophilia, Cellul...	OMIM:617718
Myotubular Myopathy With Abnormal Genital Development	Bifid scrotum, Unilateral cryptorchidism, Hypospadias, Bilateral cryptorchidism, Glandular hyposp...	OMIM:300219
Heart Defects-Limb Shortening Syndrome	Mesomelic/rhizomelic limb shortening, Disproportionate short stature, Abnormal rib morphology, Na...	ORPHA:1354
Bullous Pemphigoid	Psoriasiform dermatitis, Autoimmunity, Eczema, Recurrent infections	ORPHA:703
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Impaired Intellectual Development Syndrome	Streak ovary, Hypospadias, Cryptorchidism, Obesity, Abnormality of the uterus, Gonadoblastoma, An...	OMIM:194072
Spastic Paraplegia Type 2	Recurrent respiratory infections, Limitation of joint mobility, Spastic/hyperactive bladder, Pulm...	ORPHA:99015
Alagille Syndrome	Keratoconus, Hypoplasia of the ulna, Corneal dystrophy, Cryptorchidism, Abnormal pupil morphology...	ORPHA:52
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative	Pneumonia, Decreased lymphocyte proliferation in response to anti-CD3, Meningitis, Recurrent uppe...	OMIM:600802
Thrombocytopenia-Absent Radius Syndrome	Lateral clavicle hook, Femoral bowing, Abnormal shoulder morphology, Clinodactyly of the 5th fing...	OMIM:274000
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome	Failure to thrive, Premature ovarian insufficiency, Short stature, Female infertility	OMIM:619518
Kallmann Syndrome	Dyspareunia, Hypoplasia of penis, Hypogonadotropic hypogonadism, Cryptorchidism, Breast hypoplasi...	ORPHA:478
Metatropic Dysplasia	Severe short stature, Cataract, Camptodactyly of finger, Abnormal rib morphology, Long thorax, Ha...	ORPHA:2635
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome	Hypoparathyroidism, Septate vagina, Uterus didelphys, Primary amenorrhea, Aplasia of the vagina, ...	OMIM:146255
Myotonic Dystrophy 2	Tachycardia, Elevated circulating creatine kinase concentration, Premature ventricular contractio...	OMIM:602668
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome	Chronic lung disease, Acute respiratory distress syndrome, Craniosynostosis, Portal hypertension,...	OMIM:620005
Glycogen Storage Disease Ib	Proteinuria, Hyperlipidemia, Osteoporosis, Nephrolithiasis, Gout, Recurrent bacterial infections,...	OMIM:232220
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia	Bifid scrotum, Hypoplastic pubic ramus, Proximal placement of thumb, Short metatarsal, Patellar h...	OMIM:609945
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency	Fused labia majora, Adrenal hyperplasia, Flexion contracture, Femoral bowing, Abnormal ovarian mo...	ORPHA:95699
Septopreoptic Holoprosencephaly	Precocious puberty, Anterior hypopituitarism, Abnormal rib morphology, Ethmoidal encephalocele	ORPHA:280195
Ellis-Van Creveld Syndrome	Hypospadias, Hypoplastic iliac wing, Cryptorchidism, Epispadias, Capitate-hamate fusion, Postaxia...	OMIM:225500
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies	Vertebral fusion, Inguinal hernia, Block vertebrae, Missing ribs, Absent external genitalia, Rib ...	OMIM:271520
Tetraamelia-Multiple Malformations Syndrome	Cataract, Missing ribs, Cryptorchidism, Abnormal rib morphology, Microcornea, Aplasia/Hypoplasia ...	ORPHA:3301
Limited Cutaneous Systemic Sclerosis	Telangiectasia of the skin, Foot joint contracture, Autoimmunity, Pulmonary arterial hypertension...	ORPHA:220402
Chromosome 17Q23.1-Q23.2 Deletion Syndrome	Long toe, Epicanthus, Small for gestational age, Short stature, Postnatal growth retardation, Lon...	OMIM:613355
Peters Plus Syndrome	Microcornea, Clitoral hypoplasia, Clinodactyly of the 5th finger, Spina bifida occulta, Iris colo...	ORPHA:709
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency	Fused labia majora, Ambiguous genitalia, female, Abnormal ovarian physiology, Hypogonadotropic hy...	ORPHA:90794
Late-Onset Isolated Acth Deficiency	Normocytic anemia, Macrocytic anemia, Hypoglycemia, Eosinophilia, Type I diabetes mellitus	ORPHA:199299
Cardiogenic Shock	Abnormal EKG, Increased pulmonary capillary wedge pressure, Cardiac arrest, Myocardial infarction...	ORPHA:97292
Complete Atrioventricular Septal Defect	Abnormal EKG, Tachycardia, Left-to-right shunt, Intercostal retractions, Crackles, Right ventricu...	ORPHA:1329
Tropical Endomyocardial Fibrosis	Increased circulating interleukin 6 concentration, Prolonged QRS complex, Restrictive cardiomyopa...	ORPHA:75565
Secondary Non-Traumatic Avascular Necrosis	Limitation of joint mobility, Autoimmunity, Rheumatoid arthritis, Systemic lupus erythematosus	ORPHA:399180
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome	Renal artery aneurysm, Skin rash, Eczema, Elevated circulating C-reactive protein concentration, ...	OMIM:615688
Diabetes Mellitus, Ketosis-Prone	Autoimmunity	OMIM:612227
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency	Elevated circulating luteinizing hormone level, Female external genitalia in individual with 46,X...	ORPHA:168558
Floating-Harbor Syndrome	Short middle phalanx of the 2nd finger, Glandular hypospadias, Clinodactyly of the 5th finger, Sh...	OMIM:136140
Combined Immunodeficiency Due To Partial Rag1 Deficiency	Autoimmune hemolytic anemia, Autoimmunity, Neutropenia in presence of anti-neutropil antibodies, ...	ORPHA:231154
Adult-Onset Still Disease	Pericarditis, Skin rash, Elevated circulating C-reactive protein concentration, Myocarditis, Recu...	ORPHA:829
Acrorenal-Mandibular Syndrome	Congenital diaphragmatic hernia, Narrow chest, Hypoplasia of the ulna, Split hand, Bicornuate ute...	OMIM:200980
Fixed Subaortic Stenosis	Aortic regurgitation, Orthopnea, Paroxysmal atrial fibrillation, Angina pectoris, Dyspnea, Conges...	ORPHA:3092
Maturity-Onset Diabetes Of The Young, Type 13	Diabetes mellitus, Elevated hemoglobin A1c, Maturity-onset diabetes of the young, Maternal diabet...	OMIM:616329
Granulomatosis With Polyangiitis	Sinusitis, Elevated circulating C-reactive protein concentration, Otitis media, Cough, Chronic ot...	ORPHA:900
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency	Elevated circulating luteinizing hormone level, Female external genitalia in individual with 46,X...	ORPHA:289548
Pulmonary Arteriovenous Malformation	Brain abscess, Transient ischemic attack, Epistaxis, Myocardial infarction, Dyspnea, Heart murmur...	ORPHA:2038
Dyggve-Melchior-Clausen Disease	Glenoid fossa hypoplasia, Coxa vara, Pectus carinatum, Broad ribs, Rhizomelia, Iliac crest serrat...	ORPHA:239
Juvenile Xanthogranuloma	Iritis, Blepharitis, Uveitis, Asymmetry of iris pigmentation	ORPHA:158000
Wolf-Hirschhorn Syndrome	Iris coloboma, Vertebral fusion, Hypospadias, Short stature, Highly arched eyebrow, Short hallux,...	OMIM:194190
Ear-Patella-Short Stature Syndrome	Hypoplasia of penis, Epispadias, Clitoral hypoplasia, Clinodactyly of the 5th finger, Hypospadias...	ORPHA:2554
Pemphigus Vulgaris	Recurrent cutaneous abscess formation, Autoimmunity, Recurrent infections	ORPHA:704
Incontinentia Pigmenti	Retinal detachment, Alopecia, Abnormal chorioretinal morphology, Eosinophilia, Supernumerary nipp...	ORPHA:464
Diabetes Mellitus, Permanent Neonatal, 4	Type I diabetes mellitus, Diabetic ketoacidosis, Hyperglycemia, Elevated hemoglobin A1c	OMIM:618858
Postaxial Acrofacial Dysostosis	Syndactyly, Hypoplasia of the ulna, Congenital hip dislocation, Supernumerary nipple, Pectus exca...	OMIM:263750
Waardenburg Syndrome, Type 1	Telecanthus, White eyelashes, White eyebrow, Spina bifida, Synophrys, Myelomeningocele, Blue irid...	OMIM:193500
Phocomelia, Schinzel Type	Hypoplasia of penis, Radial bowing, Bowing of the long bones, Aplasia of the ulna, Cryptorchidism...	ORPHA:2879
Mixed Connective Tissue Disease	Gastrointestinal hemorrhage, Myositis, Pericarditis, Skin rash, Autoimmunity, Gastritis, Joint st...	ORPHA:809
Kbg Syndrome	Epispadias, Synophrys, Low anterior hairline, Thoracic kyphosis, Short palm, Clinodactyly of the ...	OMIM:148050
Grant Syndrome	Joint dislocation, Bowing of the long bones, Short stature, Abnormal rib morphology, Abnormal pel...	ORPHA:2097
Takayasu Arteritis	Increased inflammatory response, Myocardial infarction, Vasculitis, Arthritis, Hypertension, Cere...	ORPHA:3287
Pagod Syndrome	Omphalocele, Abnormal clavicle morphology, Encephalocele, Short stature, Congenital diaphragmatic...	ORPHA:991
Congenital Disorder Of Glycosylation, Type Ia	Osteopenia, Pericarditis, Proteinuria, Flexion contracture, Renal cyst, Nephrotic syndrome, Cardi...	OMIM:212065
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis	Bifid scrotum, Fused labia majora, Small scrotum, Femoral bowing, Micropenis, Hypospadias, Arachn...	OMIM:201750
Progeroid Short Stature With Pigmented Nevi	Thoracic scoliosis, Premature ovarian insufficiency, Small for gestational age, Lack of facial su...	OMIM:176690
Congenital Erythropoietic Porphyria	Recurrent bacterial skin infections, Scarring, Increased connective tissue, Scarring alopecia of ...	ORPHA:79277
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome	Abnormal renal glomerulus morphology, Renal insufficiency, Membranoproliferative glomerulonephrit...	OMIM:137940
Mesomelic Dysplasia, Kantaputra Type	Short stature, Tarsal synostosis, Camptodactyly of finger, Abnormality of the humerus, Abnormal r...	ORPHA:1836
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome	Asthma, Hypospadias, Decreased circulating IgA level	ORPHA:457485
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency	Eczema, Elevated circulating creatine kinase concentration, Lymphadenitis, Congestive heart failu...	OMIM:615895
Multiple Pterygium-Malignant Hyperthermia Syndrome	Finger syndactyly, Inguinal hernia, Small scrotum, Severe short stature, Camptodactyly of finger,...	ORPHA:2215
Mitochondrial Complex I Deficiency, Nuclear Type 35	Elevated urinary 4-hydroxybutyric acid, Neonatal respiratory distress, Lacticaciduria, Hyperproli...	OMIM:619003
Otopalatodigital Syndrome Type 2	Preaxial polydactyly, Narrow chest, Short palm, Abnormal vertebral segmentation and fusion, Synos...	ORPHA:90652
Syndromic Multisystem Autoimmune Disease Due To Itch Deficiency	Autoimmunity, Cholangitis, Portal hypertension, Anti-thyroid peroxidase antibody positivity, Hepa...	ORPHA:228426
Hermansky-Pudlak Syndrome 2	Reduced natural killer cell activity, Impaired ADP-induced platelet aggregation, Recurrent pneumo...	OMIM:608233
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities	Lymphopenia, Eosinophilia	OMIM:617425
Nail-Patella Syndrome	Renal insufficiency, Proteinuria, Glomerulonephritis, Patellar aplasia, Antecubital pterygium, Pa...	OMIM:161200
Schwartz-Jampel Syndrome	Low anterior hairline, Coxa vara, Pectus carinatum, Microcornea, Wrist flexion contracture, Gener...	ORPHA:800
Coffin-Lowry Syndrome	Hyperextensibility of the finger joints, Telecanthus, Inguinal hernia, Short stature, Short metac...	OMIM:303600
Purine Nucleoside Phosphorylase Deficiency	Recurrent respiratory infections, Autoimmune hemolytic anemia, Hypouricemia, Autoimmunity, Autoim...	ORPHA:760
Allergic Bronchopulmonary Aspergillosis	Abnormal eosinophil morphology	ORPHA:1164
Diffuse Cutaneous Systemic Sclerosis	Renal insufficiency, Telangiectasia of the skin, Autoimmunity, Dyspnea, Congestive heart failure,...	ORPHA:220393
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities	Hypoglycemia, Insulin-resistant diabetes mellitus, Hyperinsulinemia, Diabetic ketoacidosis, Fasti...	OMIM:262190
Extracranial Carotid Artery Aneurysm	Autoimmunity, Subarachnoid hemorrhage, Severe infection, Vasculitis, Hypertension, Cerebral ische...	ORPHA:494424
Mogs-Cdg	Respiratory distress, Hypoventilation, Apnea, Decreased circulating antibody level, Decreased cir...	ORPHA:79330
Isolated Osteopoikilosis	Abnormally ossified vertebrae, Increased bone mineral density, Sclerosis of foot bone, Autoimmuni...	ORPHA:166119
Cornelia De Lange Syndrome 1	Congenital diaphragmatic hernia, Proximal placement of thumb, Synophrys, Microcornea, Otitis medi...	OMIM:122470
Metaphyseal Dysostosis, Impaired Intellectual Development, And Conductive Deafness	Metaphyseal widening, Flat glenoid fossa, Coxa vara, Short palm, Genu varum, Cupped ribs, Obesity...	OMIM:250420
Stuve-Wiedemann Syndrome 2	Respiratory distress, Eczema, Congestive heart failure, Camptodactyly, Pulmonary arterial hyperte...	OMIM:619751
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome	Hepatomegaly, Decreased proportion of CD8-positive T cells, Hypereosinophilia, Mitral valve prola...	ORPHA:508533
Type 1 Diabetes Mellitus	Polyuria, Autoimmunity, Decreased level of 1,5 anhydroglucitol in serum	OMIM:222100
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib	Osteopenia, Nephrocalcinosis, Inflammation of the large intestine, Periodontitis, Tubulointerstit...	ORPHA:79259
Chédiak-Higashi Syndrome	Hyponatremia, Recurrent bacterial skin infections, Recurrent respiratory infections, Hypertriglyc...	ORPHA:167
Ossification Anomalies-Psychomotor Developmental Delay Syndrome	Postnatal growth retardation, Abnormal thorax morphology, Metaphyseal widening, Thin ribs, Triang...	ORPHA:73230
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1	Hyperextensibility of the finger joints, Decreased response to growth hormone stimulation test, L...	OMIM:213980
Diabetes Mellitus, Transient Neonatal, 3	Transient neonatal diabetes mellitus, Hyperglycemia, Elevated hemoglobin A1c, Maternal diabetes	OMIM:610582
Aymé-Gripp Syndrome	Congenital diaphragmatic hernia, Shallow orbits, Clinodactyly of the 5th finger, Megalocornea, Pr...	ORPHA:1272
Unclassified Myelodysplastic Syndrome	Autoimmunity, Bone marrow hypocellularity	ORPHA:98827
Scleromyxedema	Transient ischemic attack, Elevated circulating creatine kinase concentration, Abnormality of the...	ORPHA:167635
Livedoid Vasculopathy	Enlargement of the ankles, Superficial dermal perivascular inflammatory infiltrate, Recurrent ski...	ORPHA:542643
Neutropenia, Severe Congenital, 3, Autosomal Recessive	Recurrent bacterial infections	OMIM:610738
Achondrogenesis Type 1B	Severe short stature, Femoral hernia, Short thorax, Abnormal rib morphology, Disproportionate sho...	ORPHA:93298
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome	Absent eyebrow, Alopecia, Sparse scalp hair, Sparse eyelashes, Inguinal hernia, Tapered toe, Larg...	ORPHA:544488
Mitochondrial Complex Iv Deficiency, Nuclear Type 15	Hip dislocation, Sepsis, Pulmonary arterial hypertension, Hyperglycinemia, Hyperalaninemia	OMIM:619059
Cyclic Neutropenia	Cyclic neutropenia, Perianal abscess, Decreased eosinophil count, Lymphopenia, Tooth abscess, Thr...	ORPHA:2686
Thrombophilia Due To Protein C Deficiency, Autosomal Recessive	Vitreous hemorrhage, Pulmonary embolism	OMIM:612304
Fibrochondrogenesis 1	Narrow greater sciatic notch, Short palm, Clinodactyly of the 5th finger, Megalocornea, Widely pa...	OMIM:228520
Intellectual Disability-Severe Speech Delay-Mild Dysmorphism Syndrome	Recurrent skin infections, Abnormality of the kidney, Decreased serum iron, Recurrent upper respi...	ORPHA:391372
Schinzel-Giedion Midface Retraction Syndrome	Small scrotum, Increased density of long bones, Tibial bowing, Hypoplasia of first ribs, Shallow ...	OMIM:269150
Spondyloepimetaphyseal Dysplasia, Krakow Type	Ulnar deviation of the wrist, Eczema, Elbow contracture, Allergic rhinitis, Asthma, Knee flexion ...	OMIM:618162
Lead Poisoning	Decreased HDL cholesterol concentration, Skin rash, Asthma, Increased circulating IgE level, Chro...	ORPHA:330015
Neonatal Inflammatory Skin And Bowel Disease	Recurrent bacterial skin infections, Chapped lip, Psoriasiform dermatitis, Pustule, Horizontal ey...	ORPHA:294023
Left Ventricular Noncompaction 10	Increased left ventricular end-diastolic volume, Congestive heart failure, Dilated cardiomyopathy...	OMIM:615396
Lipoyltransferase 1 Deficiency	Hyperglutaminemia, Lacticaciduria, Hyperprolinemia, Alaninuria, Bradycardia, Pulmonary arterial h...	OMIM:616299
Liver Failure, Infantile, Transient	3-hydroxydicarboxylic aciduria, Dicarboxylic aciduria, Lacticaciduria, Hypoalbuminemia, Hyperbili...	OMIM:613070
Gamma-Heavy Chain Disease	Recurrent respiratory infections, Autoimmune hemolytic anemia, Skin rash, Autoimmunity, Autoimmun...	ORPHA:100026
Familial Isolated Restrictive Cardiomyopathy	Recurrent respiratory infections, Orthopnea, Tricuspid regurgitation, Atrial fibrillation, Suprav...	ORPHA:75249
Spondyloenchondrodysplasia With Immune Dysregulation	Recurrent respiratory infections, Autoimmunity, Pneumonia, Autoimmune thrombocytopenia, Antinucle...	OMIM:607944
Mosaic Variegated Aneuploidy Syndrome 1	Bifid scrotum, Epicanthus, Cataract, Small for gestational age, Hypospadias, Short stature, Postn...	OMIM:257300
Poland Syndrome	Aplasia/Hypoplasia of the thumb, Congenital diaphragmatic hernia, Pectus carinatum, Abnormal ster...	ORPHA:2911
Celiac Disease, Susceptibility To, 1	Eczema, Rickets, Osteoporosis, Thyroiditis, Recurrent aphthous stomatitis, Hypocalcemia, Stomatit...	OMIM:212750
Chromosome 17Q12 Deletion Syndrome	Long toe, Epicanthus, Short stature, Highly arched eyebrow, Sparse eyebrow, Cryptorchidism, Long ...	OMIM:614527
Cockayne Syndrome Type 2	Scarring, Cryptorchidism, Flexion contracture, Uveitis, Developmental cataract, Conjunctivitis, M...	ORPHA:90322
Myasthenia Gravis	Myositis, Raynaud phenomenon, Dyspnea, Anti-acetylcholine receptor antibody positivity, Anti-musc...	ORPHA:589
Maternal Uniparental Disomy Of Chromosome 2	Premature ovarian insufficiency, Hypospadias, Decreased response to growth hormone stimulation te...	ORPHA:96179
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome	Inguinal hernia, Prominent metopic ridge, Broad hallux, Upper eyelid entropion, Postaxial polydac...	ORPHA:457284
Phaver Syndrome	Broad hallux phalanx, Epicanthus, Camptodactyly of finger, Short thumb, Myelomeningocele, Abnorma...	ORPHA:2876
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly	Omphalocele, Encephalocele, Rhizomelia, Postaxial polydactyly, Unicoronal synostosis, Sparse eyeb...	OMIM:616300
Diabetes Mellitus, Permanent Neonatal, 1	Type I diabetes mellitus, Hyperglycemia, Diabetes mellitus, Elevated hemoglobin A1c	OMIM:606176
Cenani-Lenz Syndrome	Ptosis, Hypoplasia of the ulna, Finger syndactyly, Toe syndactyly, Abnormal dental enamel morphol...	ORPHA:3258
Sjogren Syndrome	Tubulointerstitial nephritis, Keratoconjunctivitis sicca, Autoimmunity, Rheumatoid arthritis	OMIM:270150
White Forelock With Malformations	Finger syndactyly, Epicanthus, Abnormal rib morphology, White forelock, Clinodactyly of the 5th f...	ORPHA:2475
Donnai-Barrow Syndrome	Omphalocele, Cataract, Congenital diaphragmatic hernia, Hypoplasia of the iris, Bicornuate uterus...	OMIM:222448
Mannosidosis, Alpha B, Lysosomal	Recurrent bacterial infections, Decreased circulating antibody level	OMIM:248500
Alveolar Echinococcosis	Liver abscess, Abnormal pericardium morphology, Eosinophilia, Abnormal spleen morphology, Anemia,...	ORPHA:284
Smith-Kingsmore Syndrome	Decreased circulating IgA level	OMIM:616638
Atrial Septal Defect, Sinus Venosus Type	Automatic atrial tachycardia, First degree atrioventricular block, Supraventricular tachycardia, ...	ORPHA:99105
Dyggve-Melchior-Clausen Disease	Metaphyseal widening, Flat glenoid fossa, Short metatarsal, Pectus carinatum, Femoral bowing, Tib...	OMIM:223800
Juvenile Dermatomyositis	Calcinosis, Bundle branch block, Myositis, Pericarditis, Skin rash, Autoimmunity, Elevated circul...	ORPHA:93672
Lumbar Syndrome	Bifid scrotum, Hypospadias, Spina bifida, Bifid uterus, Cryptorchidism, Myelomeningocele, Hypopla...	ORPHA:83628
Pulmonary Capillary Hemangiomatosis	Right ventricular failure, Antinuclear antibody positivity, Cytoplasmic antineutrophil antibody p...	ORPHA:199241
Gaucher Disease Type 3	Recurrent respiratory infections, Increased bone mineral density, Proteinuria, Osteolysis, Increa...	ORPHA:77261
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly	Hypoplasia of the ulna, Short stature, Thoracic hypoplasia, Metaphyseal spurs, Postaxial polydact...	OMIM:613091
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome	Inguinal hernia, Postnatal growth retardation, Cryptorchidism, Pancreatic lymphangiectasis, Posta...	ORPHA:1655
Primary Ciliary Dyskinesia	Recurrent sinopulmonary infections, Neonatal respiratory distress, Productive cough, Recurrent my...	ORPHA:244
Oeis Complex	11 pairs of ribs, Omphalocele, Congenital hip dislocation, Bifid uterus, Cryptorchidism, Epispadi...	OMIM:258040
Lenz-Majewski Hyperostotic Dwarfism	Hyperextensibility of the finger joints, Anterior pituitary hypoplasia, Knee flexion contracture,...	OMIM:151050
Multiple Synostoses Syndrome 1	Symphalangism affecting the phalanges of the hand, Cutaneous finger syndactyly, Lower limb underg...	OMIM:186500
Endosteal Hyperostosis, Worth Type	Clavicular sclerosis, Abnormal rib morphology, Diaphyseal thickening	ORPHA:2790
Pulmonary Venoocclusive Disease 2, Autosomal Recessive	Decreased DLCO, Dyspnea, Pulmonary arterial hypertension, Cough	OMIM:234810
Idiopathic Hypereosinophilic Syndrome	Neutrophilia, Eosinophilia, Splenomegaly, Leukocytosis, Dilated cardiomyopathy, Thrombocytopenia,...	ORPHA:3260
Thrombophilia Due To Protein S Deficiency, Autosomal Dominant	Pulmonary embolism	OMIM:612336
Shprintzen-Goldberg Craniosynostosis Syndrome	Genu recurvatum, Lateral clavicle hook, Metaphyseal widening, Pectus carinatum, Shallow orbits, D...	OMIM:182212
Gracile Bone Dysplasia	Short stature, Flared metaphysis, Thin ribs, Slender long bone, Aniridia, Micropenis, Failure to ...	OMIM:602361
Aicardi-Goutieres Syndrome 7	Atrophic gastritis, Skin rash, Pneumonia, Chilblains, Hematemesis, Increased circulating ferritin...	OMIM:615846
Sarcoidosis, Susceptibility To, 1	Abnormality of T cell physiology, Iridocyclitis, Dyspnea, Bronchiectasis, Uveitis, Hypercalciuria...	OMIM:181000
Mosaic Trisomy 8	Short stature, Camptodactyly of finger, Corneal opacity, Cryptorchidism, Patellar aplasia, Abnorm...	ORPHA:96061
Timothy Syndrome	Prolonged QT interval, Pneumonia, Ventricular tachycardia, Atrioventricular block, Recurrent infe...	OMIM:601005
Mevalonic Aciduria	Skin rash, Elevated circulating creatine kinase concentration, Elevated circulating C-reactive pr...	OMIM:610377
Xylt1-Cdg	Joint dislocation, Short stature, Acne, Coxa valga, Synophrys, Flared metaphysis, Growth delay, T...	ORPHA:370930
Hypophosphatasia	Bowing of the long bones, Short stature, Failure to thrive in infancy, Craniosynostosis, Abnormal...	ORPHA:436
Acrocapitofemoral Dysplasia	Short proximal phalanx of thumb, Coxa vara, Pectus carinatum, Narrow chest, Short palm, Hypoplast...	OMIM:607778
Neutropenia, Severe Congenital, 4, Autosomal Recessive	Neonatal sepsis, Recurrent respiratory infections, Recurrent urinary tract infections, Perianal a...	OMIM:612541
Craniofrontonasal Dysplasia-Poland Anomaly Syndrome	Syndactyly, Supernumerary nipple, Bifid uterus, Sparse eyebrow, Abnormal reproductive system morp...	ORPHA:1521
Behçet Disease	Myositis, Myocardial infarction, Pulmonary embolism, Meningitis, Infectious encephalitis, Glomeru...	ORPHA:117
Yellow Nail Syndrome	Recurrent respiratory infections, Renal neoplasm, Sinusitis, Dyspnea, Bronchiectasis, Pulmonary a...	ORPHA:662
Marburg Hemorrhagic Fever	Elevated circulating creatine kinase concentration, Nonproductive cough, Uveitis, Hypoalbuminemia...	ORPHA:99826
Fibrochondrogenesis	Omphalocele, Hypoplastic scapulae, Short stature, Camptodactyly of finger, Abnormal rib morpholog...	ORPHA:2021
Mirage Syndrome	Hyponatremia, Recurrent urinary tract infections, Hypospadias, Hyperkalemia, Sepsis, Intracranial...	OMIM:617053
Vexas Syndrome	Inflammatory abnormality of the skin, Neutrophilic infiltration of the skin, Chondritis of pinna,...	OMIM:301054
Surfactant Metabolism Dysfunction, Pulmonary, 2	Respiratory distress, Nonspecific interstitial pneumonia, Spontaneous pneumothorax, Reduced force...	OMIM:610913
Combined Oxidative Phosphorylation Deficiency 41	Hypoglycemia, Anemia, Cardiomegaly	OMIM:618838
Cirrhotic Cardiomyopathy	Prolonged QT interval, Elevated jugular venous pressure, Increased circulating NT-proBNP concentr...	ORPHA:57777
49,Xxxxy Syndrome	Recurrent respiratory infections, Hypoplasia of penis, Renal hypoplasia/aplasia, Elbow dislocatio...	ORPHA:96264
48,Xxxy Syndrome	Recurrent respiratory infections, Hypoplasia of penis, Pulmonary embolism, Elbow dislocation, Ast...	ORPHA:96263
Combined Oxidative Phosphorylation Deficiency 22	Hyperalaninemia, Congestive heart failure, Pulmonary arterial hypertension	OMIM:616045
Kenny-Caffey Syndrome, Type 1	Delayed closure of the anterior fontanelle, Recurrent bacterial infections, Hypocalcemia, Hypomag...	OMIM:244460
Pulmonary Venoocclusive Disease 1, Autosomal Dominant	Pulmonary arterial hypertension, Elevated jugular venous pressure, Abnormally loud pulmonic compo...	OMIM:265450
Trichothiodystrophy 1, Photosensitive	Asthma, Flexion contracture, Recurrent infections, Telangiectasia, Keratoconjunctivitis sicca, Er...	OMIM:601675
Congenital Tricuspid Stenosis	Tricuspid regurgitation, Tricuspid stenosis, Congestive heart failure, Heart murmur, Rheumatoid a...	ORPHA:95459
Coronary Arterial Fistula	Abnormal EKG, Elevated jugular venous pressure, Continuous heart murmur, Orthopnea, Tachycardia, ...	ORPHA:2041
Trichothiodystrophy	Joint dislocation, Congenital exfoliative erythroderma, Brittle hair, Multiple joint contractures...	ORPHA:33364
Neuroleptic Malignant Syndrome	Elevated circulating creatine kinase concentration, Urinary incontinence, Pulmonary embolism, Sep...	ORPHA:94093
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14	External genital hypoplasia, Large for gestational age, Flexion contracture, Tibial bowing, Narro...	ORPHA:96334
Cardiomyopathy, Dilated, 2C	Reduced left ventricular ejection fraction, Pulmonary arterial hypertension, Dilated cardiomyopathy	OMIM:618189
Floating-Harbor Syndrome	Enlarged joints, Humeral pseudarthrosis, Abnormal anterior chamber morphology, Dislocated radial ...	ORPHA:2044
Cleidocranial Dysplasia	Sinusitis, Coxa vara, Narrow chest, Hypoplastic inferior ilia, Clinodactyly of the 5th finger, Ch...	ORPHA:1452
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome	Osteopenia, Hypertriglyceridemia, Hypercalcemia, Craniosynostosis, Hypercalciuria, Renal cyst, Ne...	ORPHA:369837
Short-Rib Thoracic Dysplasia 12	Bowing of the legs, Thoracic dysplasia, Narrow chest, Short palm, Short toe, Short thorax, Short ...	OMIM:269860
Thoracolaryngopelvic Dysplasia	Metaphyseal widening, Irregular chondrocostal junctions, Bell-shaped thorax, Narrow pelvis bone, ...	OMIM:187760
Acquired Generalized Lipodystrophy	Acute pancreatitis, Hypertriglyceridemia, Proteinuria, Autoimmunity, Abnormality of complement sy...	ORPHA:79086
Coffin-Siris Syndrome 1	Dry hair, Congenital diaphragmatic hernia, Prominent interphalangeal joints, Prominent fingertip ...	OMIM:135900
Severe Phosphoribosylpyrophosphate Synthetase Superactivity	Crystalluria, Recurrent respiratory infections, Renal insufficiency, Gout, Hyperuricosuria, Arthr...	ORPHA:411543
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form	Osteopenia, Urethral stricture, Renal insufficiency, Foot joint contracture, Glomerulonephritis, ...	ORPHA:79408
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2	Renal cortical atrophy, Impaired renal uric acid clearance, Tubular basement membrane disintegrat...	OMIM:174000
Pemphigus Erythematosus	Autoimmunity, Antinuclear antibody positivity, Anti-acetylcholine receptor antibody positivity, S...	ORPHA:79480
Poems Syndrome	Sclerosis of hand bone, Sclerosis of foot bone, Respiratory insufficiency due to muscle weakness,...	ORPHA:2905
Diabetes Mellitus, Permanent Neonatal, 3	Type I diabetes mellitus, Athetosis, Hyperglycemia, Glycosuria	OMIM:618857
Monosomy 9P	Epicanthus, Ambiguous genitalia, Hypospadias, Highly arched eyebrow, Congenital diaphragmatic her...	ORPHA:261112
Autosomal Recessive Robinow Syndrome	Hypoplasia of penis, Pectus carinatum, Clinodactyly of the 5th finger, Chronic otitis media, Hypo...	ORPHA:1507
Thrombophilia Due To Protein S Deficiency, Autosomal Recessive	Cerebral hemorrhage, Pulmonary embolism	OMIM:614514
Exstrophy-Epispadias Complex	Omphalocele, Bifid scrotum, Inguinal hernia, Spina bifida, Bifid uterus, Cryptorchidism, Epispadi...	ORPHA:322
Isolated Klippel-Feil Syndrome	Spina bifida, Abnormal rib morphology, Low posterior hairline, Abnormal shoulder morphology, Cerv...	ORPHA:2345
Shwachman-Diamond Syndrome	Osteopenia, Sinusitis, Skin rash, Eczema, Pneumonia, Osteomyelitis, Recurrent viral infections, A...	ORPHA:811
Immunodeficiency 21	Osteomyelitis, Recurrent fungal infections, Recurrent mycobacterium avium complex infections, Rec...	OMIM:614172
Thin Ribs-Tubular Bones-Dysmorphism Syndrome	Abnormal pelvic girdle bone morphology, Intrauterine growth retardation, Slender long bone, Abnor...	ORPHA:1506
Hereditary Acrokeratotic Poikiloderma	Finger syndactyly, Short stature, Camptodactyly of finger, Eczema, Abnormal preputium morphology,...	ORPHA:2907
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion	Omphalocele, Long toe, Epicanthus, Inguinal hernia, Overlapping toe, Pectus excavatum, Postnatal ...	ORPHA:254528
Microphthalmia, Syndromic 3	Vertebral fusion, Cataract, Hypogonadotropic hypogonadism, Anterior pituitary hypoplasia, Hypospa...	OMIM:206900
Hereditary Hemorrhagic Telangiectasia	Conjunctival telangiectasia, Gastrointestinal hemorrhage, Transient ischemic attack, Epistaxis, P...	ORPHA:774
Maturity-Onset Diabetes Of The Young, Type 8, With Exocrine Dysfunction	Hyperglycemia, Elevated hemoglobin A1c, Maturity-onset diabetes of the young	OMIM:609812
Idiopathic Aplastic Anemia	Epistaxis, Autoimmune antibody positivity, Retinal hemorrhage, Recurrent infections, Bone marrow ...	ORPHA:88
Robinow Syndrome, Autosomal Recessive 1	Clitoral hypoplasia, Short palm, Micropenis, Duplication of the distal phalanx of hand, Dislocate...	OMIM:268310
Sengers Syndrome	Osteopenia, Cardiac arrest, Sudden cardiac death, Respiratory insufficiency, 3-Methylglutaconic a...	OMIM:212350
Hyperparathyroidism, Transient Neonatal	Hyperparathyroidism, Inguinal hernia, Short femur, Metaphyseal spurs, Wide cranial sutures, Undul...	OMIM:618188
Dubowitz Syndrome	Hypospadias, Eczema, Recurrent infections, Otitis media, Hypocholesterolemia, Decreased circulati...	OMIM:223370
Vaginal Atresia	Cervicitis, Vaginal hematocele, Transverse vaginal septum, Uterus didelphys, Primary amenorrhea, ...	ORPHA:65681
Mody	Elevated hemoglobin A1c, Transient neonatal diabetes mellitus, Insulin-resistant diabetes mellitu...	ORPHA:552
Pseudohypoparathyroidism Type 1C	Short metacarpal, Short fifth metatarsal, Hypergonadotropic hypogonadism, Decreased response to g...	ORPHA:79444
Sarcoidosis, Susceptibility To, 2	Erythema nodosum, Dyspnea, Pneumothorax, Bronchiectasis, Uveitis, Hypoxemia, Restrictive ventilat...	OMIM:612387
Meconium Aspiration Syndrome	Respiratory distress, Neonatal asphyxia, Wheezing, Pneumothorax, Hypoxemia, Abnormal heart rate v...	ORPHA:70588
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation	Omphalocele, Small for gestational age, Large for gestational age, Postnatal growth retardation, ...	ORPHA:254534
Fryns Syndrome	Bifid scrotum, Ectopic pancreatic tissue, Proximal placement of thumb, Large for gestational age,...	OMIM:229850
Hallermann-Streiff Syndrome	Sparse scalp hair, Wormian bones, Sparse eyelashes, Small for gestational age, Proportionate shor...	OMIM:234100
Holt-Oram Syndrome	Abnormal clavicle morphology, Finger syndactyly, Down-sloping shoulders, Absent thumb, Pectus exc...	ORPHA:392
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies	Epicanthus, Tapered finger, Precocious puberty, Synophrys, Limited elbow extension, Hip dislocati...	OMIM:301066
Basal Cell Nevus Syndrome 1	Short distal phalanx of the thumb, Vertebral fusion, Ovarian fibroma, Cataract, Down-sloping shou...	OMIM:109400
Bent Bone Dysplasia Syndrome 2	Bowed humerus, Hypoplastic iliac wing, Short tibia, Ulnar bowing, Thin ribs, Femoral bowing, Shor...	OMIM:620076
Generalized Pustular Psoriasis	Hyponatremia, Renal insufficiency, Elevated circulating C-reactive protein concentration, Pustule...	ORPHA:247353
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis	Ankle swelling, Joint stiffness, Antinuclear antibody positivity, Iridocyclitis, Knee osteoarthri...	ORPHA:85408
X-Linked Severe Congenital Neutropenia	Recurrent bacterial infections	ORPHA:86788
Melnick-Needles Syndrome	Omphalocele, Bowing of the long bones, Short stature, Coxa valga, Short thorax, Abnormal rib morp...	ORPHA:2484
Congenital Gerbode Defect	Elevated right atrial pressure, Tricuspid regurgitation, Left-to-right shunt, Ankle swelling, Cra...	ORPHA:99095
Townes-Brocks Syndrome	Bifid scrotum, Hypoplasia of penis, Abnormality of the uterus, Triphalangeal thumb, Limbal dermoi...	ORPHA:857
Wolf-Hirschhorn Syndrome	Hypoplastic pubic ramus, Congenital diaphragmatic hernia, Sclerocornea, Hernia, Chronic otitis me...	ORPHA:280
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome	Omphalocele, Bowing of the long bones, Radial bowing, Abnormal rib morphology, Abnormal fibula mo...	ORPHA:3035
Mucopolysaccharidosis Type 4	Joint dislocation, Bowing of the long bones, Short stature, Abnormal dental enamel morphology, Co...	ORPHA:582
Craniosynostosis, Herrmann-Opitz Type	Finger syndactyly, Short stature, Craniosynostosis, Split hand, Abnormal rib morphology, Intraute...	ORPHA:2145
Camptodactyly Syndrome, Guadalajara Type 3	Telecanthus, Symblepharon, Broad femoral neck, Abnormal rib morphology, Small hand, Short foot, M...	ORPHA:488434
Roberts Syndrome	Aplasia/Hypoplasia of the thumb, Proximal placement of thumb, Knee flexion contracture, Clinodact...	ORPHA:3103
Neu-Laxova Syndrome 1	Calcaneovalgus deformity, Pterygium, Finger syndactyly, Spina bifida, Bifid uterus, Absent eyelas...	OMIM:256520
Hypoparathyroidism-Retardation-Dysmorphism Syndrome	Patchy osteosclerosis, Recurrent bacterial infections, Hyperphosphatemia, Hypocalcemia, Micropeni...	OMIM:241410
Autoimmune Hemolytic Anemia, Warm Type	Abnormal urinary color, Autoimmune hemolytic anemia, Tachycardia, Autoimmunity, Congestive heart ...	ORPHA:90033
De Sanctis-Cacchione Syndrome	Entropion, Severe short stature, Bilateral cryptorchidism, Keratitis, Gonadal hypoplasia, Conjunc...	OMIM:278800
Monosomy 9Q22.3	Epicanthus, Ovarian fibroma, Cataract, Large for gestational age, Pectus excavatum, Abnormal rib ...	ORPHA:77301
Klippel-Trénaunay Syndrome	Gastrointestinal hemorrhage, Pulmonary embolism, Congestive heart failure, Respiratory insufficie...	ORPHA:90308
Glycogen Storage Disease Ic	Renal insufficiency, Proteinuria, Spider hemangioma, Chronic pancreatitis, Hyperlipidemia, Recurr...	OMIM:232240
Smith-Lemli-Opitz Syndrome	Hypoplasia of penis, Congenital diaphragmatic hernia, Proximal placement of thumb, Sclerocornea, ...	ORPHA:818
Short-Rib Thoracic Dysplasia 15 With Polydactyly	Epicanthus, Short stature, Postaxial polydactyly, Postaxial hand polydactyly, Hydrometrocolpos, A...	OMIM:617088
Yunis-Varon Syndrome	Aplasia of the distal phalanges of the hand, Aplasia/Hypoplasia of the scapulae, Sclerocornea, Ab...	ORPHA:3472
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome	Hyponatremia, Proteinuria, Polyuria, Renal salt wasting, Hypomagnesemia, Chronic kidney disease, ...	OMIM:613845
Ulbright-Hodes Syndrome	Abnormal penis morphology, Short humerus, Short metacarpal, Abnormal external genitalia, Enlarged...	ORPHA:3404
Trichodermodysplasia-Dental Alterations Syndrome	Sparse scalp hair, Brittle hair, Fine hair, Sparse or absent eyelashes, Adenoma sebaceum, Abnorma...	ORPHA:3353
Mandibulofacial Dysostosis With Macroblepharon And Macrostomia	Corneal opacity, Keratitis, Synophrys, Conjunctivitis, Recurrent otitis media, Long palpebral fis...	OMIM:602562
Fibrous Dysplasia Of Bone	Abnormal clavicle morphology, Abnormal morphology of the radius, Bowing of the long bones, Precoc...	ORPHA:249
Cooper-Jabs Syndrome	Short stature, Camptodactyly of finger, Congenital diaphragmatic hernia, Missing ribs, Proximal p...	ORPHA:1488
Campomelic Dysplasia	Thoracic scoliosis, Anterior tibial bowing, Delayed epiphyseal ossification, Patellar hypoplasia,...	OMIM:114290
Monosomy 18Q	Left-to-right shunt, Congestive heart failure, Mitral regurgitation, Aortic valve stenosis, Micro...	ORPHA:1600
Idiopathic/Heritable Pulmonary Arterial Hypertension	Tricuspid regurgitation, Dyspnea, Abnormal cardiovascular system physiology, Heart murmur, Syncop...	ORPHA:422
Spondyloepiphyseal Dysplasia Tarda	Increased inflammatory response, Increased bone mineral density, Osteoarthritis of the distal int...	ORPHA:93284
Imperforate Oropharynx-Costovertebral Anomalies Syndrome	Epicanthus, Arachnodactyly, Missing ribs, Abnormal rib morphology, Clinodactyly of the 5th finger...	ORPHA:2759
Meckel Syndrome 14	Syndactyly, Bowing of the long bones, Occipital encephalocele, Postaxial polydactyly, Postaxial h...	OMIM:619879
T-Cell Lymphoma, Subcutaneous Panniculitis-Like	Increased circulating ferritin concentration, Panniculitis, Autoimmunity, Hypertriglyceridemia	OMIM:618398
Mgat2-Cdg	Osteopenia, Respiratory distress, Decreased circulating antibody level, Decreased lymphocyte prol...	ORPHA:79329
Kindler Epidermolysis Bullosa	Finger syndactyly, Recurrent skin infections, Abnormal dental enamel morphology, Camptodactyly of...	ORPHA:2908
Pontocerebellar Hypoplasia Type 7	Epicanthus, Abnormal scrotal rugation, Cryptorchidism, Upslanted palpebral fissure, Gonadal dysge...	ORPHA:284339
Chromomycosis	Keratitis, Ankylosis, Osteolysis, Recurrent bacterial infections, Keratoconjunctivitis sicca	ORPHA:182
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome	Biliary hyperplasia, Coarse hair, Micropenis, Pancreatic hypoplasia, Arachnodactyly, Cryptorchidi...	ORPHA:83617
Otopalatodigital Syndrome, Type Ii	Congenital hip dislocation, Elbow contracture, Short metatarsal, Femoral bowing, Tibial bowing, N...	OMIM:304120
Myhre Syndrome	Hypoplastic iliac wing, Sparse hair, Broad ribs, Vertebral fusion, Short stature, Cryptorchidism,...	OMIM:139210
Fetal Akinesia Deformation Sequence 1	Hip contracture, Telecanthus, Small for gestational age, Thoracic hypoplasia, Elbow contracture, ...	OMIM:208150
Infantile Systemic Hyalinosis	Osteopenia, Telangiectasia of the skin, Recurrent fractures, Osteomalacia, Camptodactyly of finge...	ORPHA:2176
Say-Barber-Miller Syndrome	Eczema, Craniosynostosis, Erythema nodosum, Transient hypogammaglobulinemia of infancy, Hip dislo...	ORPHA:3132
Keutel Syndrome	Recurrent otitis media, Recurrent respiratory infections, Pulmonary arterial hypertension, Recurr...	ORPHA:85202
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2	Respiratory failure requiring assisted ventilation, Anuria, Peritonitis, Megacystis, Recurrent in...	OMIM:619351
Atrial Septal Defect, Ostium Primum Type	First degree atrioventricular block, Tachypnea, Atrioventricular block, Fixed splitting of the se...	ORPHA:99106
Chediak-Higashi Syndrome	Impaired neutrophil bactericidal activity, Recurrent bacterial skin infections, Recurrent systemi...	OMIM:214500
Van Den Ende-Gupta Syndrome	Glenoid fossa hypoplasia, Sclerocornea, Lateral clavicle hook, 2-3 toe cutaneous syndactyly, Knee...	OMIM:600920
Okur-Chung Neurodevelopmental Syndrome	Decreased circulating IgG level, Joint hypermobility, Decreased circulating IgA level, Decreased ...	OMIM:617062
Tarp Syndrome	Finger syndactyly, Rocker bottom foot, Abnormal hair pattern, Postaxial polydactyly, Pectus excav...	ORPHA:2886
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2	Chronic gastritis, Increased circulating interleukin 6 concentration, Recurrent respiratory infec...	OMIM:301074
Trichinellosis	Skin rash, Increased circulating IgE level, Retinal hemorrhage, Conjunctivitis, Meningitis	ORPHA:863
Catel-Manzke Syndrome	Joint dislocation, Pectus carinatum, Clinodactyly of the 5th finger, Short metacarpal, Cryptorchi...	OMIM:616145
Cockayne Syndrome Type 1	Cataract, Foot joint contracture, Scarring, Postnatal growth retardation, Cryptorchidism, Uveitis...	ORPHA:90321
Gaucher Disease	Osteopenia, Joint dislocation, Increased bone mineral density, Osteomyelitis, Proteinuria, Recurr...	ORPHA:355
Cartilage-Hair Hypoplasia	Metaphyseal chondrodysplasia, Pectus carinatum, Tibial bowing, Narrow chest, Short palm, Sparse h...	ORPHA:175
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome	Hypoparathyroidism, Psoriasiform dermatitis, Septate vagina, Uterus didelphys, Parathyroid hypopl...	ORPHA:2237
Localized Scleroderma	Fasciitis, Autoimmunity, Abnormality of the kidney, Raynaud phenomenon, Flexion contracture, Vasc...	ORPHA:90289
Femoral-Facial Syndrome	Short fourth metatarsal, Limited elbow movement, Micropenis, Short stature, Cryptorchidism, Humer...	OMIM:134780
Congenital Pulmonary Lymphangiectasia	Respiratory distress, Tricuspid regurgitation, Congestive heart failure, Chronic pulmonary obstru...	ORPHA:2414
Idiopathic Pulmonary Arterial Hypertension	Tricuspid regurgitation, Ankle swelling, Increased pulmonary vascular resistance, Congestive hear...	ORPHA:275766
Short-Rib Thoracic Dysplasia 20 With Polydactyly	Absent gallbladder, Septate vagina, Postaxial polydactyly, Lateral clavicle hook, Preaxial polyda...	OMIM:617925
Pediatric-Onset Graves Disease	Episcleritis, Atrial fibrillation, Autoimmunity, Craniosynostosis, Keratitis, Neonatal asphyxia, ...	ORPHA:525731
Pituitary Deficiency Due To Empty Sella Turcica Syndrome	Hyponatremia, Autoimmunity, Hypotension	ORPHA:91354
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures	Metaphyseal widening, Flexion contracture, Delayed proximal femoral epiphyseal ossification, Flar...	OMIM:271640
Pseudohypoparathyroidism Type 1A	Decreased response to growth hormone stimulation test, Reduced circulating prolactin concentratio...	ORPHA:79443
Noonan Syndrome 1	Abnormal sternum morphology, Male infertility, Hypospadias, Short stature, Cryptorchidism, Superi...	OMIM:163950
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea	Tricuspid regurgitation, Crackles, Dyspnea, Asthma, Wheezing, Bronchiectasis, Chronic cough, Pleu...	OMIM:620233
Cysticercosis	Iridocyclitis, Stiff neck, Increased circulating antibody level, Infectious encephalitis	ORPHA:1560
Fanconi Anemia, Complementation Group L	Absent thumb, Absent radius, Upslanted palpebral fissure, Growth delay, Aplasia of the uterus, In...	OMIM:614083
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy	Autoimmunity, Increased circulating free fatty acid level	ORPHA:293964
Wiedemann-Rautenstrauch Syndrome	Flexion contracture, Hypoplasia of the thymus, Narrow chest, Genu varum, Long toe, Absent eyebrow...	OMIM:264090
Crouzon Syndrome	Sagittal craniosynostosis, Keratitis, Conjunctivitis, Lambdoidal craniosynostosis, Shallow orbits...	OMIM:123500
Methylmalonic Acidemia With Homocystinuria, Type Cblc	Methylmalonic acidemia, Hypomethioninemia, Glomerulopathy, Ketonuria, Renal insufficiency, Respir...	ORPHA:79282
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome	Sandal gap, Abnormal dental enamel morphology, Abnormal rib morphology, Obesity, Sprengel anomaly...	ORPHA:2180
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2	Conjunctival telangiectasia, Increased circulating antibody level, Elevated circulating creatine ...	OMIM:606002
Cole-Carpenter Syndrome	Crumpled long bones, Bowing of the long bones, Short stature, Abnormal dental enamel morphology, ...	ORPHA:2050
Adiposis Dolorosa	Telangiectasia of the skin, Arthritis, Recurrent skin infections, Autoimmunity	ORPHA:36397
Ehlers-Danlos Syndrome, Vascular Type	Keratoconus, Inguinal hernia, Short stature, Pectus excavatum, Cryptorchidism, Cigarette-paper sc...	OMIM:130050
Charge Syndrome	Bifid scrotum, Abnormal tibia morphology, Eyelid coloboma, Clinodactyly of the 5th finger, Microp...	ORPHA:138
Eisenmenger Syndrome	Respiratory distress, Elevated circulating C-reactive protein concentration, Ventricular tachycar...	ORPHA:97214
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly	Pancreatic fibrosis, Lateral clavicle hook, Preaxial hand polydactyly, Postaxial hand polydactyly...	OMIM:263520
Cryptococcosis	Respiratory distress, Osteomyelitis, Autoimmunity, Pneumonia, Meningitis, Peritonitis, Dyspnea, O...	ORPHA:1546
Antley-Bixler Syndrome	Arachnodactyly, Camptodactyly of finger, Craniosynostosis, Abnormal rib morphology, Femoral bowin...	ORPHA:83
Sickle Cell Disease	Hepatomegaly, Hemolytic anemia, Cardiomegaly, Splenomegaly, Leukocytosis, Splenic infarction, Ret...	OMIM:603903
Familial Glucocorticoid Deficiency	Hyponatremia, Recurrent urinary tract infections, Autoimmunity, Renal salt wasting, Hyperkalemia,...	ORPHA:361
Pulmonary Alveolar Microlithiasis	Calcium nephrolithiasis, Right ventricular failure, Abnormal circulating calcium concentration, N...	ORPHA:60025
Lethal Congenital Contracture Syndrome Type 1	Short stature, Abnormality of the elbow, Abnormal rib morphology, Slender long bone, Abnormal hip...	ORPHA:1486
Hurler-Scheie Syndrome	Aortic regurgitation, Recurrent respiratory infections, Camptodactyly of finger, Joint stiffness,...	OMIM:607015
Aicardi Syndrome	Cataract, Block vertebrae, Proximal placement of thumb, Missing ribs, Hiatus hernia, Precocious p...	OMIM:304050
Hurler Syndrome	Abnormal clavicle morphology, Short stature, Camptodactyly of finger, Corneal opacity, Abnormalit...	ORPHA:93473
Familial Renal Glucosuria	Elevated hemoglobin A1c, Insulin resistance, Glycosuria, Hyperglycemia, Abnormal oral glucose tol...	ORPHA:69076
Pierre Robin Sequence With Pectus Excavatum And Rib And Scapular Anomalies	Pectus excavatum, Hypoplastic distal segments of scapulae, Abnormal rib morphology	OMIM:602196
Methylmalonic Aciduria And Homocystinuria, Cblj Type	Methylmalonic acidemia, Hypomethioninemia, Tachypnea, Methylmalonic aciduria, Hyperhomocystinemia...	OMIM:614857
Congenital Disorder Of Glycosylation, Type It	Tachycardia, Elevated circulating creatine kinase concentration, Sudden cardiac death, Dyspnea, D...	OMIM:614921
Neonatal Acute Respiratory Distress Due To Sp-B Deficiency	Neonatal respiratory distress, Spontaneous neonatal pneumothorax, Tachypnea, Intraalveolar phosph...	ORPHA:217563
Dermatitis Herpetiformis	Autoimmunity, Recurrent fractures, Eczema	ORPHA:1656
Norrie Disease	Aplasia/Hypoplasia of the lens, Corneal opacity, Cataract, Cachexia, Sclerocornea, Ectopia lentis...	ORPHA:649
Pulmonary Hypertension, Primary, 4	Atrial flutter, Pulmonary arterial hypertension with lack of acute response to NO challenge, Firs...	OMIM:615344
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly	Lateral clavicle hook, Early ossification of capital femoral epiphyses, Thoracic dysplasia, Narro...	OMIM:208500
Severe Hereditary Thrombophilia Due To Congenital Protein C Deficiency	Pulmonary embolism	ORPHA:745
Townes-Brocks Syndrome 1	Bifid scrotum, Short metatarsal, Triphalangeal thumb, 2-4 finger syndactyly, Hypospadias, Bifid u...	OMIM:107480
Polycythemia Vera	Gastrointestinal hemorrhage, Angina pectoris, Epistaxis, Portal hypertension, Pulmonary embolism,...	ORPHA:729
Multiple Mitochondrial Dysfunctions Syndrome 1	Increased urine alpha-ketoglutarate concentration, Hyperglycinuria, Lacticaciduria, Respiratory i...	OMIM:605711
Ehlers-Danlos Syndrome, Periodontal Type, 1	Joint dislocation, Joint laxity, Autoimmunity, Generalized joint laxity, Recurrent infections, Pe...	OMIM:130080
Von Hippel-Lindau Syndrome	Neoplasm of the pancreas, Pancreatic cysts, Papillary cystadenoma of the epididymis, Pheochromocy...	OMIM:193300
Pallister-Hall Syndrome	Small scrotum, Large for gestational age, Gonadotropin deficiency, Micropenis, Aplasia/hypoplasia...	ORPHA:672
1P36 Deletion Syndrome	Hypoplasia of penis, Clinodactyly of the 5th finger, Generalized hirsutism, Hypospadias, Short st...	ORPHA:1606
Simpson-Golabi-Behmel Syndrome	Hypoplasia of penis, Congenital hip dislocation, Congenital diaphragmatic hernia, Clinodactyly of...	ORPHA:373
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis	Recurrent respiratory infections, Tachypnea, Respiratory insufficiency, Recurrent infections, Res...	OMIM:618278
Mitochondrial Complex Iv Deficiency, Nuclear Type 20	Hyperalaninemia, Pulmonary arterial hypertension, Hyperprolinemia	OMIM:619064
Acute Adrenal Insufficiency	Hyponatremia, Renal insufficiency, Orthostatic hypotension, Hypercalcemia, Autoimmunity, Renal sa...	ORPHA:95409
Okamoto Syndrome	Omphalocele, Prominent metopic ridge, Bifid uterus, Extension of hair growth on temples to latera...	ORPHA:2729
Mayer-Rokitansky-Küster-Hauser Syndrome	Hypoplasia of the vagina, Aplasia of the uterus, Vertebral fusion	ORPHA:3109
Severe Hereditary Thrombophilia Due To Congenital Protein S Deficiency	Pulmonary embolism	ORPHA:743
Kyphomelic Dysplasia	Short humerus, Short metacarpal, Radial bowing, Short femur, Anterior rib cupping, Bowed humerus,...	OMIM:211350
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy	Hypoventilation, Myositis, Flexion contracture, Respiratory insufficiency, Highly elevated creati...	ORPHA:258
Hydrops, Lactic Acidosis, And Sideroblastic Anemia	Respiratory insufficiency, Hematuria, Hypertension, Second degree atrioventricular block, Hypoalb...	OMIM:617021
Oculocerebrorenal Syndrome Of Lowe	Hyperparathyroidism, Abnormal pupil morphology, Lentiglobus, Periodontitis, Chronic otitis media,...	ORPHA:534
Familial Multiple Nevi Flammei	Intracranial hemorrhage, Arrhythmia, Pulmonary embolism	ORPHA:624
Mitochondrial Complex Iv Deficiency, Nuclear Type 7	Tricuspid regurgitation, Hyperammonemia, Pulmonary arterial hypertension, Hyperalaninemia, Hypert...	OMIM:619051
Familial Hypocalciuric Hypercalcemia	Hypomagnesiuria, Renal hypophosphatemia, Autoimmunity, Osteomalacia, Hypercalcemia, Parathormone-...	ORPHA:405
Angioedema, Hereditary, 1	Decreased circulating C1-esterase inhibitor concentration, Autoimmunity, Reduced hemolytic comple...	OMIM:106100
Viss Syndrome	Joint laxity, Chronic gastritis, Recurrent joint dislocation, Epidural hemorrhage, Eczema, Dyspne...	OMIM:619472
Spondylometaphyseal Dysplasia, Sedaghatian Type	Delayed epiphyseal ossification, Long fibula, Narrow chest, Narrow greater sciatic notch, Short p...	OMIM:250220
Lethal Omphalocele-Cleft Palate Syndrome	Omphalocele, Bifid uterus	ORPHA:2736
Townes-Brocks Syndrome 2	Rectovaginal fistula, Spina bifida occulta, Hypospadias, Bifid uterus	OMIM:617466
Generalized Eruptive Keratoacanthoma	Abnormal cornea morphology, Keratoconjunctivitis sicca, Conjunctivitis, Ectropion	ORPHA:411777
Lacrimoauriculodentodigital Syndrome 1	Absence of Stensen duct, Preaxial polydactyly, Radial deviation of the 3rd finger, Conjunctivitis...	OMIM:149730
Dextrocardia	Abnormal reproductive system morphology, Pancreatic hypoplasia, Abnormal rib morphology, Congenit...	ORPHA:1666
Autoimmune Polyendocrinopathy Type 1	Autoimmunity, Chronic mucocutaneous candidiasis	ORPHA:3453
X-Linked Hypophosphatemia	Beaded ribs, Bowing of the legs, Trapezoidal distal femoral condyles, Enthesitis, Genu varum, Enl...	ORPHA:89936
Cushing Disease	Sparse scalp hair, Diabetes mellitus, Impaired glucose tolerance, Optic nerve compression, Leukoc...	ORPHA:96253
Arboleda-Tham Syndrome	Bilateral cryptorchidism, Long thorax, Conjunctivitis, Narrow chest, Chronic otitis media, Sparse...	OMIM:616268
Felty Syndrome	Rheumatoid arthritis	OMIM:134750
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome	Fasciitis, Myositis, Pericarditis, Skin rash, Orchitis, Abnormal sacroiliac joint morphology, Per...	ORPHA:32960
Sarcoidosis	Hepatomegaly, Alopecia, Hemolytic anemia, Eosinophilia, Thrombocytopenia, Increased T cell count,...	ORPHA:797
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome	Proximal placement of thumb, Congenital diaphragmatic hernia, Abnormal thumb morphology, Short th...	ORPHA:1120
Restrictive Dermopathy	Multiple joint contractures, Sparse hair, Hypospadias, Sparse eyebrow, Sparse or absent eyelashes...	ORPHA:1662
Cardiospondylocarpofacial Syndrome	Epicanthus, Telecanthus, Short stature, Brachydactyly, Congenital diaphragmatic hernia, Tarsal sy...	OMIM:157800
Pallister-Killian Syndrome	Small scrotum, Congenital hip dislocation, Congenital diaphragmatic hernia, Flexion contracture, ...	OMIM:601803
Roberts-Sc Phocomelia Syndrome	Tetraphocomelia, Knee flexion contracture, Eyelid coloboma, Shallow orbits, Sparse hair, Phocomel...	OMIM:268300
Dermatomyositis	Recurrent respiratory infections, Pericarditis, Telangiectasia of the skin, Autoimmunity, Myocard...	ORPHA:221
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans	Respiratory distress, Brain abscess, Central apnea, Urinary incontinence, Congestive heart failur...	OMIM:616482
Symptomatic Form Of Fragile X Syndrome In Female Carriers	Joint laxity, Hypertension, Recurrent otitis media, Autoimmunity	ORPHA:449291
Pulmonary Edema Of Mountaineers, Susceptibility To	Elevated pulmonary artery pressure	OMIM:178400
Loeys-Dietz Syndrome	Joint dislocation, Arachnodactyly, Camptodactyly of finger, Craniosynostosis, Pectus excavatum, P...	ORPHA:60030
Congenital Tracheomalacia	Neonatal respiratory distress, Apnea, Pneumonia, Intercostal retractions, Productive cough, Dyspn...	ORPHA:95430
Lymphedema And Cerebral Arteriovenous Anomaly	Pulmonary arterial hypertension	OMIM:152900
Pulmonary Hypertension, Primary, 3	Increased pulmonary vascular resistance, Dyspnea, Elevated pulmonary artery pressure, Pulmonary a...	OMIM:615343
Congenital Disorder Of Glycosylation, Type Iiw	Membranoproliferative glomerulonephritis, Microscopic hematuria, Osteoporosis, Recurrent otitis m...	OMIM:619525
Vascular Ehlers-Danlos Syndrome	Joint dislocation, Congenital hip dislocation, Osteoarthritis, Abnormal pupil morphology, Periodo...	ORPHA:286
Cardiac-Urogenital Syndrome	Bifid scrotum, Unilateral cryptorchidism, Congenital diaphragmatic hernia, Cryptorchidism, 2-3 to...	OMIM:618280
Familial Chylomicronemia Syndrome	Acute pancreatitis, Hypertriglyceridemia, Pulmonary embolism, Perianal abscess, Hyperlipidemia, R...	ORPHA:444490
Coenzyme Q10 Deficiency, Primary, 2	Aortic regurgitation, Pulmonary arterial hypertension, Mitral regurgitation	OMIM:614651
Hydrolethalus Syndrome 1	Omphalocele, Hypospadias, Bifid uterus, Preaxial hand polydactyly, Postaxial hand polydactyly, Du...	OMIM:236680
Aregenerative Anemia	Dyspnea, Abnormality of interleukin secretion, Bone marrow hypocellularity	ORPHA:101096
Transketolase Deficiency	Cataract, Proportionate short stature, Seborrheic dermatitis, Uveitis, Secondary amenorrhea, Conj...	ORPHA:488618
Hemangiomas, Cavernous, Of Face And Supraumbilical Midline Raphe	Bifid sternum, Supraumbilical raphe	OMIM:140850
Craniorachischisis	Omphalocele, Congenital diaphragmatic hernia, Cervical spina bifida, Myelomeningocele, Anencephal...	ORPHA:63260
Toxic Epidermal Necrolysis	Entropion, Corneal erosion, Weight loss, Conjunctivitis, Abnormal vagina morphology, Pancreatitis	ORPHA:537
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type	Delayed epiphyseal ossification, Tachypnea, Flat acetabular roof, Hypertension, Wormian bones, Pu...	OMIM:613320
Spondyloepimetaphyseal Dysplasia, Sponastrime Type	Osteopenia, Genu valgum, Delayed ossification of carpal bones, Laryngotracheomalacia, Decreased c...	OMIM:271510
Achalasia, Familial Esophageal	Keratoconjunctivitis sicca, Rheumatoid arthritis	OMIM:200400
Pulmonary Hypertension, Primary, 5	Angina pectoris, Right ventricular failure, Syncope, Pulmonary arterial hypertension, Exertional ...	OMIM:265400
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome	Epistaxis, Nephrolithiasis, Intracranial hemorrhage, Hypertension, Hypokalemia, Second degree atr...	ORPHA:369929
Nodular Non-Suppurative Panniculitis	Panniculitis, Inflammatory abnormality of the eye, Autoimmunity	ORPHA:33577
Synaptic Congenital Myasthenic Syndromes	Respiratory distress, Abnormality of the knee, Hypoventilation, Neonatal respiratory distress, Li...	ORPHA:98915
Linear Skin Defects With Multiple Congenital Anomalies 2	Pulmonary arterial hypertension	OMIM:300887
Paroxysmal Nocturnal Hemoglobinuria	Hemosiderinuria, Renal insufficiency, Proteinuria, Decreased serum iron, Myocardial infarction, P...	ORPHA:447
Klippel-Feil Syndrome 1, Autosomal Dominant	Abnormal rib morphology, Low posterior hairline, Cervical C2/C3 vertebral fusion, Sprengel anomal...	OMIM:118100
Osteogenesis Imperfecta, Type Iii	Protrusio acetabuli, Recurrent fractures, Severe generalized osteoporosis, Multiple prenatal frac...	OMIM:259420
Acute Transverse Myelitis	Orthostatic hypotension, Invasive parasitic infection, Decreased circulating copper concentration...	ORPHA:139417
Adult Syndrome	Sparse scalp hair, Absent nipple, Fair hair, Toe syndactyly, Sparse axillary hair, Eczema, Split ...	OMIM:103285
Charge Syndrome	Decreased response to growth hormone stimulation test, External genital hypoplasia, Gonadotropin ...	OMIM:214800
Cold Agglutinin Disease	Abnormal urinary color, Autoimmunity	ORPHA:56425
Osteogenesis Imperfecta	Abnormal tibia morphology, Flexion contracture, Osteoarthritis, Abnormal femur morphology, Pectus...	ORPHA:666
Aicardi-Goutières Syndrome	Myositis, Multiple joint contractures, Autoimmunity, Chilblains, Raynaud phenomenon, Increased ci...	ORPHA:51
Braddock Syndrome	Pulmonary arterial hypertension, Neonatal respiratory distress, Unilateral renal agenesis	ORPHA:52047
Von Hippel-Lindau Disease	Neoplasm of the pancreas, Pancreatic islet cell adenoma, Pancreatic cysts, Myocarditis, Adrenal p...	ORPHA:892
Hughes-Stovin Syndrome	Pulmonary embolism, Dyspnea, Vasculitis, Cardiorespiratory arrest, Cough, Pulmonary arterial hype...	ORPHA:228116
Autosomal Dominant Dopa-Responsive Dystonia	Hypertension, Progressive flexion contractures, Transient hyperphenylalaninemia, Rheumatoid arthr...	ORPHA:98808
Pemphigus Foliaceus	Psoriasiform dermatitis, Autoimmunity, Pustule, Crusting erythematous dermatitis, Erythroderma	ORPHA:79481
Alström Syndrome	Respiratory distress, Urinary incontinence, Functional abnormality of the bladder, Otitis media, ...	ORPHA:64
Vater/Vacterl Association	Syndactyly, Occipital encephalocele, Hypospadias, Spina bifida, Postnatal growth retardation, Sho...	OMIM:192350
19P13.3 Microduplication Syndrome	Pulmonary arterial hypertension, Osteoporosis, Hip subluxation, Hip dislocation	ORPHA:447980
Total Anomalous Pulmonary Venous Return 1	Recurrent respiratory infections, Pulmonary arterial hypertension	OMIM:106700
Dehydrated Hereditary Stomatocytosis	Increased circulating ferritin concentration, Pulmonary venous hypertension, Abnormal blood potas...	ORPHA:3202
Ciliary Dyskinesia, Primary, 20	Recurrent respiratory infections, Productive cough, Recurrent pneumonia, Bronchiectasis, Aortic v...	OMIM:615067
Craniofaciofrontodigital Syndrome	Osteopenia, Joint laxity, Respiratory distress, Gastrointestinal hemorrhage, Persistent fetal cir...	ORPHA:363705
Otofaciocervical Syndrome 2, With T-Cell Deficiency	Scapular winging, Lacrimal duct stenosis, Down-sloping shoulders, Tapered finger, Periorbital der...	OMIM:615560
Pulmonary Hypertension, Primary, 1	Elevated right atrial pressure, Right ventricular failure, Increased pulmonary vascular resistanc...	OMIM:178600
Blau Syndrome	Clear cell renal cell carcinoma, Pericarditis, Skin rash, Camptodactyly of finger, Keratitis, Ret...	ORPHA:90340
Laryngotracheoesophageal Cleft Type 4	Abnormal rib morphology, Cachexia	ORPHA:93941
Brain-Lung-Thyroid Syndrome	Respiratory distress, Recurrent respiratory infections, Neonatal respiratory distress, Hypospadia...	ORPHA:209905
Absence Of The Pulmonary Artery	Recurrent respiratory infections, Abnormal EKG, Atrial flutter, Tachycardia, Atrial fibrillation,...	ORPHA:980
Cirrhosis, Familial	Fulminant hepatitis, Increased level of L-fucose in urine, Increased level of propylene glycol in...	OMIM:215600
Spondylometaphyseal Dysplasia, Sedaghatian Type	Short metacarpal, Abnormal scapula morphology, Iliac crest serration, Metaphyseal chondrodysplasi...	ORPHA:93317
Mucopolysaccharidosis Type 3	Abnormal clavicle morphology, Inguinal hernia, Cataract, Corneal opacity, Thick hair, Avascular n...	ORPHA:581
Beta-Thalassemia Intermedia	Osteopenia, High-output congestive heart failure, Osteoporosis, Increased susceptibility to fract...	ORPHA:231222
Nestor-Guillermo Progeria Syndrome	Wide cranial sutures, Limited elbow movement, Delayed closure of the anterior fontanelle, Joint s...	OMIM:614008
Classic Homocystinuria	Gastrointestinal hemorrhage, Recurrent fractures, Pulmonary embolism, Joint stiffness, Osteoporos...	ORPHA:394
Primary Aldosteronism, Seizures, And Neurologic Abnormalities	Nephrolithiasis, Hypertension, Second degree atrioventricular block, Hypokalemia, Pulmonary arter...	OMIM:615474
Basel-Vanagaite-Smirin-Yosef Syndrome	Pulmonary arterial hypertension, Recurrent pneumonia, Hypospadias, Hydronephrosis	OMIM:616449
Glossopharyngeal Neuralgia	Bradycardia, Jaw claudication, Autoimmunity, Syncope	ORPHA:221098
Surfactant Metabolism Dysfunction, Pulmonary, 1	Neonatal respiratory distress, Apnea, Dyspnea, Tachypnea, Intraalveolar phospholipid accumulation...	OMIM:265120
Hereditary Sensory And Autonomic Neuropathy Type 4	Fasciitis, Osteomyelitis, Neuropathic arthropathy, Chronic kidney disease, Painless fractures due...	ORPHA:642
Mucopolysaccharidosis, Type Vi	Tricuspid regurgitation, Pneumonia, Joint stiffness, Flexion contracture, Recurrent upper respira...	OMIM:253200
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum	Abnormal penis morphology, Anterior uveitis, Inflammatory abnormality of the skin, Skin rash, Sym...	ORPHA:95455
X-Linked Intellectual Disability, Nascimento Type	Recurrent cutaneous abscess formation, Recurrent respiratory infections, Hypospadias, Mitral sten...	ORPHA:163956
Campomelia, Cumming Type	Bowing of the long bones, Pancreatic cysts, Abnormal thorax morphology, Abnormal rib morphology, ...	ORPHA:1318
Stiff-Person Syndrome	Hypertension, Tachycardia, Autoimmunity	OMIM:184850
Tetrasomy 5P	Respiratory distress, Recurrent respiratory infections, Congestive heart failure, Heart murmur, P...	ORPHA:3309
Gaucher Disease, Type I	Epistaxis, Dyspnea, Hypertension, Mitral regurgitation, Pulmonary arterial hypertension, Patholog...	OMIM:230800
Cardiomyopathy, Dilated, 2D	Tricuspid regurgitation, Dilated cardiomyopathy, Pulmonary arterial hypertension, Mitral regurgit...	OMIM:619371
Holzgreve Syndrome	Abnormal morphology of ulna, Abnormal rib morphology, Hand polydactyly, Abnormal metacarpal morph...	ORPHA:2167
Familial Osteodysplasia, Anderson Type	Aplastic clavicle, Missing ribs, Elbow dislocation, Abnormal rib morphology, Bifid femur, Aplasia...	ORPHA:2769
Mitochondrial Complex I Deficiency, Nuclear Type 37	Respiratory distress, Pulmonary arterial hypertension, Hypospadias, Bradycardia	OMIM:619272
Thoracic Outlet Syndrome	Abnormal rib morphology	ORPHA:97330
Stuve-Wiedemann Syndrome 1	Enlarged joints, Apnea, Osteoporosis, Elbow flexion contracture, Respiratory insufficiency, Contr...	OMIM:601559
22Q11.2 Deletion Syndrome	Gastrointestinal hemorrhage, Acne, Autoimmunity, Impaired T cell function, Seborrheic dermatitis,...	ORPHA:567
Combined Immunodeficiency-Enteropathy Spectrum	Autoimmune hemolytic anemia, Psoriasiform dermatitis, Autoimmunity, Hepatitis, Recurrent abscess ...	ORPHA:436252
Overhydrated Hereditary Stomatocytosis	Hyperbilirubinemia, Pulmonary embolism	OMIM:185000
Melas	Wolff-Parkinson-White syndrome, Proteinuria, Cardiac conduction abnormality, Dilated cardiomyopat...	ORPHA:550
Autosomal Recessive Malignant Osteopetrosis	Recurrent respiratory infections, Apnea, Recurrent fractures, Craniosynostosis, Reduced bone mine...	ORPHA:667
15Q Overgrowth Syndrome	Contracture of the proximal interphalangeal joint of the 2nd finger, Tricuspid regurgitation, Ure...	ORPHA:314585
Intellectual Developmental Disorder, Autosomal Dominant 52	Scapular winging, Small for gestational age, Bilateral cryptorchidism, Cryptorchidism, Synophrys,...	OMIM:617796
Fg Syndrome Type 1	Limited elbow extension and supination, Progressive flexion contractures, Hypospadias, Craniosyno...	ORPHA:93932
Osteopetrosis With Renal Tubular Acidosis	Recurrent fractures, Elevated circulating creatine kinase concentration, Proximal renal tubular a...	ORPHA:2785
Addison Disease	Hyponatremia, Orthostatic hypotension, Autoimmunity, Hypercalcemia, Renal salt wasting, Decreased...	ORPHA:85138
Telangiectasia, Hereditary Hemorrhagic, Type 1	Conjunctival telangiectasia, Tongue telangiectasia, Palate telangiectasia, Brain abscess, High-ou...	OMIM:187300
Atrial Septal Defect 9	Pulmonary arterial hypertension	OMIM:614475
Isolated Congenital Alacrima	Keratitis, Corneal erosion, Lacrimal gland hypoplasia, Conjunctivitis, Lacrimal punctal atresia, ...	ORPHA:91416
Developmental Delay With Or Without Dysmorphic Facies And Autism	Renal hypoplasia, Renal cyst, Recurrent infections, Microphallus, Vesicoureteral reflux, Pulmonar...	OMIM:618454
Basel-Vanagaite-Smirin-Yosef Syndrome	Hypospadias, Recurrent pneumonia, Male urethral meatus stenosis, Pulmonary arterial hypertension,...	ORPHA:464738
Ogden Syndrome	Global glomerulosclerosis, Prominent metopic ridge, Congenital hip dislocation, Apnea, Eczema, Ve...	OMIM:300855
Alagille Syndrome 1	Hypoplasia of the ulna, Posterior embryotoxon, Cataract, Band keratopathy, Abnormal rib morpholog...	OMIM:118450
Melnick-Needles Syndrome	Recurrent respiratory infections, Ureteral stenosis, Hip dislocation, Osteolytic defects of the p...	OMIM:309350
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome	Transient ischemic attack, Sagittal craniosynostosis, Unilateral renal agenesis, Bilateral renal ...	ORPHA:500150
Tetrasomy 9P	Joint dislocation, Renal dysplasia, Myositis, Pericarditis, Recurrent urinary tract infections, R...	ORPHA:3310
Relapsing Polychondritis	Episcleritis, Alopecia, Pericarditis, Cataract, Chondritis of pinna, Keratitis, Myocarditis, Hepa...	ORPHA:728
Reactive Arthritis	Pericarditis, Osteomyelitis, Pustule, Weight loss, Enthesitis, Arthritis, Joint swelling, Inflamm...	ORPHA:29207
Pulmonary Hypertension, Primary, 2	Increased pulmonary vascular resistance, Pulmonary arterial hypertension, Abnormally loud pulmoni...	OMIM:615342
Marshall-Smith Syndrome	Decreased hip abduction, Large sternal ossification centers, Recurrent fractures, Craniosynostosi...	OMIM:602535
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations	Joint dislocation, Arthropathy, Genu recurvatum, Limited hip extension, Flexion contracture, Knee...	OMIM:143095
Degcags Syndrome	Osteopenia, Bilateral renal hypoplasia, Hypospadias, Abnormal renal cortex morphology, Renal hypo...	OMIM:619488
Kagami-Ogata Syndrome	Pulmonary arterial hypertension, Flexion contracture, Pulmonic stenosis	OMIM:608149
Hutchinson-Gilford Progeria Syndrome	Myocardial infarction, Osteoarthritis, Reduced bone mineral density, Intracranial hemorrhage, Lim...	ORPHA:740
Radio-Renal Syndrome	Severe short stature, Hypoplasia of the radius, Abnormal rib morphology, Abnormality of the elbow...	ORPHA:3015
Erythrocytosis, Familial, 2	Hypotension, Pulmonary arterial hypertension, Cerebral hemorrhage	OMIM:263400
Histiocytosis-Lymphadenopathy Plus Syndrome	Episcleritis, Camptodactyly of finger, Elbow flexion contracture, Joint contracture of the 5th fi...	OMIM:602782
Cushing Syndrome Due To Ectopic Acth Secretion	Sparse scalp hair, Diabetes mellitus, Impaired glucose tolerance, Leukocytosis, Decreased eosinop...	ORPHA:99889
Telangiectasia, Hereditary Hemorrhagic, Type 2	Conjunctival telangiectasia, Tongue telangiectasia, Palate telangiectasia, Brain abscess, Fingerp...	OMIM:600376
Geleophysic Dysplasia 2	Tricuspid stenosis, Joint stiffness, Limitation of joint mobility, Respiratory insufficiency, Mit...	OMIM:614185
Carey-Fineman-Ziter Syndrome 1	Pulmonary arterial hypertension, Flexion contracture, Elevated circulating creatine kinase concen...	OMIM:254940
3Q29 Microdeletion Syndrome	Joint hyperflexibility, Hypospadias, Pulmonary arterial hypertension, Horseshoe kidney	ORPHA:65286
Cardiomyopathy, Dilated, 1S	Tricuspid regurgitation, Sudden cardiac death, Congestive heart failure, Dilated cardiomyopathy, ...	OMIM:613426
Myasthenia Gravis	Autoimmunity	OMIM:254200
Neurodevelopmental Disorder With Hypotonia, Language Delay, And Skeletal Defects With Or Without Seizures	Prolonged QT interval, Flexion contracture, Stridor, Camptodactyly, Pulmonary arterial hypertension	OMIM:620029
Sturge-Weber Syndrome	Conjunctival telangiectasia, Pulmonary embolism	ORPHA:3205
Adams-Oliver Syndrome	Gastrointestinal hemorrhage, Pulmonary arterial hypertension, Portal hypertension	ORPHA:974
Scimitar Syndrome	Respiratory distress, Recurrent respiratory infections, Left-to-right shunt, Heart block, Congest...	ORPHA:185
Lysosomal Acid Lipase Deficiency	Hyponatremia, Hypertriglyceridemia, Renal salt wasting, Hyperkalemia, Abnormal urine potassium co...	ORPHA:275761
Biliary, Renal, Neurologic, And Skeletal Syndrome	Osteopenia, Conjugated hyperbilirubinemia, Knee dislocation, Hypoalbuminemia, Tricuspid regurgita...	OMIM:619534
Dysmorphism-Short Stature-Deafness-Difference Of Sex Development Syndrome	Recurrent respiratory infections, Hypospadias, Hypoxemia, Pulmonary arterial hypertension, Microp...	ORPHA:2282
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome	Wormian bones, Hypospadias, Congestive heart failure, Asthma, Vesicoureteral reflux, Horseshoe ki...	ORPHA:444077
Proteus Syndrome	Craniosynostosis, Joint stiffness, Sudden cardiac death, Pulmonary embolism, Long penis, Hip disl...	ORPHA:744
Ctcf-Related Neurodevelopmental Disorder	Osteopenia, Craniosynostosis, Phimosis, Sepsis, Recurrent infections, Mitral regurgitation, Joint...	ORPHA:363611
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta	Recurrent respiratory infections, Left-to-right shunt, Congestive heart failure, Left ventricular...	ORPHA:99050
Familial Thrombocytosis	Pulmonary arterial hypertension, Syncope, Cerebral ischemia, Transient ischemic attack	ORPHA:71493
Congenital Alveolar Capillary Dysplasia	Respiratory distress, Pulmonary arterial hypertension, Aortic valve stenosis, Hydronephrosis	ORPHA:210122
Adams-Oliver Syndrome 5	Pulmonary arterial hypertension, Pulmonic stenosis	OMIM:616028
Generalized Arterial Calcification Of Infancy	Respiratory distress, Abnormality of the knee, Hyperphosphaturia, Transient ischemic attack, Oste...	ORPHA:51608
Laubry-Pezzi Syndrome	Aortic regurgitation, Mildly reduced left ventricular ejection fraction, Congestive heart failure...	ORPHA:99094
Lipodystrophy, Familial Partial, Type 7	Orthostatic hypotension, Hypertriglyceridemia, Spontaneous pneumothorax, Polyuria, Hypertension, ...	OMIM:606721
Multisystemic Smooth Muscle Dysfunction Syndrome	Hypertension, Tachypnea, Pulmonary arterial hypertension	OMIM:613834
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome	Recurrent respiratory infections, Pulmonary arterial hypertension, Unconjugated hyperbilirubinemia	OMIM:620186
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins	Neonatal respiratory distress, Hydroureter, Hypospadias, Dilatation of the renal pelvis, Right-to...	OMIM:265380
Juvenile Polyposis Syndrome	Gastrointestinal hemorrhage, Brain abscess, Spontaneous, recurrent epistaxis, Transient ischemic ...	ORPHA:2929
Encephalocraniocutaneous Lipomatosis	Pulmonary arterial hypertension, Aortic valve stenosis, Osteochondrosis, Osteolysis	ORPHA:2396
Fontaine Progeroid Syndrome	Tricuspid regurgitation, Craniosynostosis, Pneumothorax, Respiratory insufficiency, Micropenis, P...	OMIM:612289
Ramon Syndrome	Juvenile rheumatoid arthritis, Telangiectasia	OMIM:266270
Diaphragmatic Hernia 4, With Cardiovascular Defects	Pulmonary arterial hypertension, Neonatal respiratory distress, Recurrent infections	OMIM:620025
Aorta Coarctation	Congestive heart failure, Hypertension, Pulmonary arterial hypertension	ORPHA:1457
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome	Spontaneous, recurrent epistaxis, Pulmonary arterial hypertension, Bacterial endocarditis	ORPHA:2072
Lymphatic Malformation 13	Pulmonary arterial hypertension, Mitral regurgitation, Chronic lung disease	OMIM:620244
17Q11 Microdeletion Syndrome	Osteopenia, Telangiectasia of the skin, Osteoporosis, Osteolysis, Renovascular hypertension, Hype...	ORPHA:97685
Congenital Total Pulmonary Venous Return Anomaly	Respiratory distress, Recurrent respiratory infections, Respiratory failure requiring assisted ve...	ORPHA:99125
Adams-Oliver Syndrome 1	Hypertension, Aortic valve stenosis, Pulmonary arterial hypertension, Pulmonic stenosis	OMIM:100300
Cog1-Cdg	Osteopenia, Pulmonary arterial hypertension, Flat acetabular roof	ORPHA:263508
Yunis-Varon Syndrome	Wide cranial sutures, Absent sternal ossification, Congenital hip dislocation, Hypospadias, Hip d...	OMIM:216340

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.

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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
Ash1l^{tm2a(EUCOMM)Hmgu}	KO first allele (reporter-tagged insertion with conditional potential)	Mice, Targeting vectors, ES Cells
Ash1l^{tm2b(EUCOMM)Hmgu}	Reporter-tagged deletion allele (with selection cassette)	Mice

Sequence

Guides

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

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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