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Gene: Il25 MGI:2155888

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Gene Summary

Name:
interleukin 25
Synonyms:
Il17e,  IL-17E

Order Alleles

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
abnormal eye morphology Il25em1(IMPC)Mbp HOM Early adult 0.00
cataract Il25em1(IMPC)Mbp HOM Early adult 4.27×10-05
enlarged testis Il25em1(IMPC)Mbp HOM Early adult 0.00
abnormal testis morphology Il25em1(IMPC)Mbp HOM Early adult 0.00
abnormal vitreous body morphology Il25em1(IMPC)Mbp HOM Early adult 3.24×10-05
microphthalmia Il25em1(IMPC)Mbp HOM Early adult 0.00
small testis Il25em1(IMPC)Mbp HOM Early adult 0.00
prolonged QRS complex duration Il25em1(IMPC)Mbp HOM Early adult 3.68×10-05

Download data as:  TSV  XLS

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Viewing: all phenotypes

lacZ Expression

Expression data not available

Associated Images

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

X-ray

XRay Images Whole Body Dorso Ventral

49 Images

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X-ray

XRay Images Whole Body Lateral Orientation

16 Images

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Human diseases caused by Il25 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.

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Il25 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Hypertriglyceridemia 2
Hypercholesterolemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia OMIM:619324
Atherosclerosis Susceptibility
Decreased HDL cholesterol concentration, Hypertriglyceridemia OMIM:108725
Immunodeficiency With Hyper-Igm, Type 3
Impaired Ig class switch recombination, Absence of lymph node germinal center, Impaired memory B ... OMIM:606843
Immunodeficiency 103, Susceptibility To Fungal Infections
Abnormal B cell count, Abnormal proportion of CD8-positive T cells, Abnormal natural killer cell ... OMIM:212050
Immunodeficiency 35
Recurrent respiratory infections, Recurrent viral infections, Recurrent mycobacterial infections,... OMIM:611521
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation
Herpes simplex encephalitis, Increased circulating IgE level, Hepatosplenomegaly, Lymphadenopathy... OMIM:618982
Fish-Eye Disease
Increased LDL cholesterol concentration, Decreased HDL cholesterol concentration, Hypertriglyceri... OMIM:136120
Kimura Disease
Eosinophilia, Increased circulating IgE level, Lymphadenopathy, Follicular hyperplasia ORPHA:482
Hyper-Ige Syndrome 5, Autosomal Recessive, With Recurrent Infections
Increased circulating interleukin 6 concentration, Increased circulating IgE level, Recurrent upp... OMIM:618944
Immunodeficiency With Hyper-Igm, Type 2
Recurrent infection of the gastrointestinal tract, Recurrent respiratory infections, Impaired Ig ... OMIM:605258
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Absence of lymph node germinal center, Recurrent opportunistic infections, Increased circulating ... ORPHA:277
Histiocytosis, Familial Lipochrome
Histiocytosis, Increased circulating antibody level, Recurrent infections OMIM:235900
Immunodeficiency 24
Decreased circulating IgG level, Lymphopenia, Recurrent viral infections, Decreased CD4:CD8 ratio... OMIM:615897
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Recurrent viral infections, Recurrent candida infections, Increased circulating IgG level, T lymp... ORPHA:169154
Immunodeficiency 25
Recurrent herpes, Autoimmune hemolytic anemia, Eosinophilia, Increased circulating IgA level, Inc... OMIM:610163
Immunoglobulin A Deficiency 1
Recurrent respiratory infections, Malabsorption, Recurrent infections, Recurrent infection of the... OMIM:137100
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant
Recurrent respiratory infections, Recurrent sinopulmonary infections, Recurrent ear infections, S... OMIM:615513
Hypercholesterolemia, Familial, 4
Hypercholesterolemia, Hypertriglyceridemia, Decreased LDL cholesterol concentration OMIM:603813
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Recurrent oral herpes, Autoimmune hemolytic anemia, Persistent CMV viremia, Fluctuating splenomeg... OMIM:619220
Immunodeficiency With Hyper-Igm, Type 5
Impaired Ig class switch recombination, Lymphadenopathy, Increased circulating IgM level, Recurre... OMIM:608106
Hyperlipoproteinemia, Type Ii, And Deafness
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia OMIM:144300
Severe Combined Immunodeficiency, X-Linked
Impaired lymphocyte transformation with phytohemagglutinin, Reduced natural killer cell activity,... OMIM:300400
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency
Absent peripheral lymph nodes in presence of infection, Abnormal immunoglobulin level, Invasive f... ORPHA:98813
Spermatogenic Failure 57
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest, Decreased testi... OMIM:619528
Spermatogenic Failure 50
Male infertility, Azoospermia, Spermatogenesis maturation arrest, Decreased testicular size OMIM:619145
Immunodeficiency, Common Variable, 11
Recurrent respiratory infections, Mucoid diarrhea, Increased circulating IgE level, Inflammation ... OMIM:615767
Testes, Rudimentary
Hypergonadotropic hypogonadism, Decreased testicular size, Hypoplastic male external genitalia OMIM:273150
Immunodeficiency 67
Transient neutropenia, Liver abscess, Recurrent staphylococcal infections, Increased circulating ... OMIM:607676
Immunodeficiency 86
Impaired oxidative burst, Decreased circulating IgG level, Increased circulating IgM level, BCGitis OMIM:619549
Immunodeficiency 61
Recurrent respiratory infections, Frequent Giardia lamblia infestation, Decreased circulating IgG... OMIM:300310
Immunodeficiency 48
Recurrent respiratory infections, Failure to thrive, Pneumonia, Absence of CD8-positive T cells, ... OMIM:269840
Intellectual Developmental Disorder, X-Linked 14
Macroorchidism OMIM:300062
X-Linked Intellectual Disability-Macrocephaly-Macroorchidism Syndrome
Macroorchidism ORPHA:85320
Immunodeficiency 50
Recurrent respiratory infections, Recurrent urinary tract infections, Decreased circulating antib... OMIM:300988
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Decreased proportion of CD4-positive T cells, Recurrent respiratory infections, Persistent CMV vi... OMIM:300853
Thumb, Hypoplastic, With Choroid Coloboma, Poorly Developed Antihelix, And Deafness
Cryptorchidism, Cataract OMIM:274205
Combined Immunodeficiency, X-Linked
Sinusitis, Pneumonia, Decreased proportion of CD8-positive T cells, Otitis media, Decreased propo... OMIM:312863
Immunodeficiency 89 And Autoimmunity
Reduced circulating interleukin 17A concentration, Reduced circulating interleukin 23 concentrati... OMIM:619632
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes
Recurrent bacterial infections, Decreased circulating IgG level, T lymphocytopenia, Recurrent can... OMIM:242870
Immunodeficiency 51
Recurrent respiratory infections, Recurrent skin infections, Pneumonia, Eczema, Pustule, Recurren... OMIM:613953
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections
Recurrent sinopulmonary infections, Eosinophilia, Recurrent viral infections, Increased circulati... OMIM:243700
Lymphoproliferative Syndrome 3
Severe varicella zoster infection, Hepatosplenomegaly, Lymphadenopathy, Decreased circulating ant... OMIM:618261
Hepatic Venoocclusive Disease With Immunodeficiency
Decreased circulating IgG level, Absence of lymph node germinal center OMIM:235550
Combined Immunodeficiency Due To Dock8 Deficiency
Recurrent respiratory infections, Recurrent bacterial skin infections, Recurrent viral infections... ORPHA:217390
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency
Hypertriglyceridemia ORPHA:366
Glycogen Storage Disease Vi
Hypercholesterolemia, Hyperlipidemia, Hypertriglyceridemia OMIM:232700
Immunodeficiency 11B With Atopic Dermatitis
Eosinophilia, Increased circulating IgE level, Severe cytomegalovirus infection, Decreased circul... OMIM:617638
Immunodeficiency 8 With Lymphoproliferation
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... OMIM:615401
Agammaglobulinemia 4, Autosomal Recessive
Recurrent pneumonia, Agammaglobulinemia, Decreased circulating total IgM, Recurrent bacterial inf... OMIM:613502
Autoimmune Disease
Autoimmune antibody positivity, Autoimmunity OMIM:109100
Tn Polyagglutination Syndrome
Abnormal erythrocyte morphology, Autoimmunity OMIM:300622
Ras-Associated Autoimmune Leukoproliferative Disorder
Recurrent respiratory infections, Hemolytic anemia, Pancytopenia, Follicular hyperplasia, Autoimm... OMIM:614470
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Recurrent bacterial infection... OMIM:202700
Agammaglobulinemia 8B, Autosomal Recessive
Pancytopenia, Splenomegaly, Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, Recur... OMIM:619824
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Generalized lymphadenopathy, Aplasia of the thymus, Eosinophilia, Splenomegaly, Increased circula... OMIM:602450
Partial Chromosome Y Deletion
Male infertility, Non-obstructive azoospermia, Cryptorchidism, Oligozoospermia, Abnormal spermato... ORPHA:1646
Immunodeficiency, Common Variable, 4
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... OMIM:613494
Ficolin 3 Deficiency
Recurrent Staphylococcus aureus infections, Necrotizing enterocolitis, Recurrent abscess formatio... OMIM:613860
Immunodeficiency 95
Recurrent respiratory infections, Lymphopenia, Decreased circulating IgG3 level, Increased circul... OMIM:619773
Intellectual Developmental Disorder, X-Linked 2
Macroorchidism OMIM:300428
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias
Absent specific antibody response, Recurrent sinopulmonary infections, Decreased proportion of CD... OMIM:619846
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive
Pneumonia, Purulent rhinitis, Recurrent opportunistic infections, Diarrhea, Arthritis, T lymphocy... OMIM:601457
Immunodeficiency 64 With Lymphoproliferation
Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of CD4-pos... OMIM:618534
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections
Recurrent sinopulmonary infections, Eosinophilia, Increased circulating IgE level, Recurrent pneu... OMIM:147060
Cholesterol-Ester Transfer Protein Deficiency
Hyperlipidemia, Increased HDL cholesterol concentration, Hypercholesterolemia, Hypotriglyceridemi... ORPHA:79506
Familial Peripheral Male-Limited Precocious Puberty
Male infertility, Precocious puberty, Long penis, Oligozoospermia, Macroorchidism ORPHA:3000
Pemphigus Vulgaris, Familial
Autoimmune antibody positivity, Autoimmunity OMIM:169610
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome
Decreased proportion of CD8-positive T cells, Increased circulating IgE level, Increased circulat... OMIM:617241
Immunodeficiency 104
Eczema, Pneumonia, Splenomegaly, Recurrent opportunistic infections, Diarrhea, Chronic mucocutane... OMIM:608971
Intrauterine Growth Restriction-Short Stature-Early Adult-Onset Diabetes Syndrome
Decreased testicular size ORPHA:436144
Inflammatory Bowel Disease 29
Ulcerative colitis, Crohn's disease OMIM:618077
Deafness, Neural, With Atypical Atopic Dermatitis
Increased circulating IgE level OMIM:221700
Immunodeficiency 52
Decreased proportion of CD4-positive T cells, Persistent CMV viremia, Autoimmune thrombocytopenia... OMIM:617514
Proteasome-Associated Autoinflammatory Syndrome 5
Hypertriglyceridemia OMIM:619175
Agammaglobulinemia 7, Autosomal Recessive
Recurrent respiratory infections, Recurrent infections, Agammaglobulinemia, Neutropenia, Reduced ... OMIM:615214
Spermatogenic Failure 25
Male infertility, Non-obstructive azoospermia, Decreased testicular size, Cryptozoospermia OMIM:617960
Agammaglobulinemia 3, Autosomal Recessive
Abnormal T cell morphology, Agammaglobulinemia, Recurrent bacterial infections, Absent isohemaggl... OMIM:613501
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Atrophic gastritis, Psoriasiform dermatitis, Eczema, Diarrhea, Recurrent upper respiratory tract ... OMIM:616100
Microphthalmia, Isolated, With Cataract 1
Microphthalmia, Cataract OMIM:156850
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia
Recurrent respiratory infections, Cervical lymphadenopathy, Decreased circulating total IgM, B ly... OMIM:618987
Immunodeficiency, Common Variable, 7
Recurrent respiratory infections, Recurrent urinary tract infections, Chronic (near) absent circu... OMIM:614699
Immunodeficiency With Hyper-Igm, Type 1
Sepsis, Decreased circulating IgE, Neutropenia, Decreased circulating IgG level, Meningitis, Hemo... OMIM:308230
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 4
Agammaglobulinemia, Recurrent infections, Decreased circulating antibody level OMIM:616911
Masp2 Deficiency
Complement deficiency, Recurrent pneumonia, Ulcerative colitis OMIM:613791
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Extramedullary hematopoiesis, Splenomegaly, Recurrent infections, Anemia, Leukopenia, Increased c... OMIM:615285
Immunoglobulin A Deficiency 2
Recurrent sinopulmonary infections, Recurrent infection of the gastrointestinal tract, Decreased ... OMIM:609529
Microphthalmia, Isolated 4
Microphthalmia, Absent testis OMIM:613094
Isochromosomy Yp
Male infertility, Azoospermia, Primary gonadal insufficiency, Ambiguous genitalia, Decreased test... ORPHA:98797
Hypertriglyceridemia 1
Hypertriglyceridemia, Increased VLDL cholesterol concentration OMIM:145750
Mental retardation, x-linked, syndromic, Turner type
Macroorchidism OMIM:300706
Agammaglobulinemia 8A, Autosomal Dominant
Recurrent infections, Agammaglobulinemia, Post-vaccination polio, B lymphocytopenia, Recurrent ot... OMIM:616941
Immunodeficiency, Common Variable, 3
Recurrent respiratory infections, Decreased circulating total IgM, Recurrent bacterial infections... OMIM:613493
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Recurrent respiratory infections, Hemolytic anemia, Autoimmune hemolytic anemia, Decreased propor... OMIM:606367
Acute Lung Injury
Respiratory distress, Acute pancreatitis, Increased circulating interleukin 6 concentration, Pneu... ORPHA:178320
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections
Recurrent respiratory infections, Eosinophilia, Increased circulating IgE level, Recurrent pneumo... OMIM:618282
Pa Polymorphism Of Alpha-2-Globulin
Abnormal immunoglobulin level OMIM:260100
Palmoplantar Keratoderma, Epidermolytic, 1
Increased circulating IgE level OMIM:144200
Immunodeficiency, Common Variable, 1
Impaired T cell function, Pneumonia, Splenomegaly, Diarrhea, Recurrent pneumonia, Bronchiectasis,... OMIM:607594
Ige Responsiveness, Atopic
Increased circulating IgE level OMIM:147050
Agammaglobulinemia 2, Autosomal Recessive
Recurrent respiratory infections, Recurrent pneumonia, Abnormal T cell morphology, Agammaglobulin... OMIM:613500
Immunodeficiency 37
Colitis, Recurrent infections, Infectious encephalitis, Decreased circulating antibody level OMIM:616098
Agammaglobulinemia 10, Autosomal Dominant
Recurrent respiratory infections, Transient neutropenia, Agammaglobulinemia, Decreased circulatin... OMIM:619707
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome
Cataract, External genital hypoplasia, Cryptorchidism, Hypogonadism, Retinal coloboma, Microphtha... ORPHA:363741
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections
Lymphopenia, Increased circulating IgE level, Recurrent upper respiratory tract infections, Recur... OMIM:619752
Neutropenia, Chronic Familial
Increased circulating antibody level, Neutropenia OMIM:162700
Inflammatory Bowel Disease 28, Autosomal Recessive
Perianal abscess, Enterocolitis, Hematochezia, Folliculitis, Colitis, Pyoderma, Crohn's disease OMIM:613148
Caspase 8 Deficiency
Recurrent sinopulmonary infections, Complete or near-complete absence of specific antibody respon... OMIM:607271
Immunodeficiency 11A
Recurrent respiratory infections, Pneumocystis jirovecii pneumonia, Decreased proportion of CD4+C... OMIM:615206
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis
Autoimmune hemolytic anemia, Glomerulonephritis, Pneumonia, Plasmacytosis, Increased circulating ... OMIM:247800
Adult Acute Respiratory Distress Syndrome
Increased circulating interleukin 6 concentration, Pneumonia, Dyspnea, Sepsis, Abnormal circulati... ORPHA:70578
Partington Syndrome
Macroorchidism, Facial telangiectasia ORPHA:94083
Immunodeficiency 60 And Autoimmunity
Recurrent sinopulmonary infections, Chronic diarrhea, Bronchiectasis, Ulcerative colitis, Decreas... OMIM:618394
Activated Pi3K-Delta Syndrome
Pneumonia, Splenomegaly, Recurrent tonsillitis, Bronchiectasis, Decreased circulating antibody le... ORPHA:397596
Immunodeficiency 109 With Lymphoproliferation
Pancytopenia, Generalized lymphadenopathy, Decreased lymphocyte proliferation in response to anti... OMIM:620282
Lymphoma, Hodgkin, Classic
Impaired lymphocyte transformation with phytohemagglutinin, Polyclonal elevation of IgM OMIM:236000
Hyper-Ige Syndrome 4B, Autosomal Recessive, With Recurrent Infections
Recurrent otitis media, Recurrent respiratory infections, Increased circulating IgE level, Eosino... OMIM:618523
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Lymphopenia, Pneumonia, Eosinophilia, Diarrhea, Recurrent pneumonia, Hepatitis, Recurrent candida... ORPHA:169160
Bare Lymphocyte Syndrome, Type Ii
Viral hepatitis, Villous atrophy, Recurrent urinary tract infections, Chronic lymphocytic meningi... OMIM:209920
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome
Cataract, Cryptorchidism, Hypogonadism, Retinal coloboma, Microphthalmia OMIM:601794
Immune Deficiency, Familial Variable
Decreased circulating IgG level, Recurrent infections, Decreased circulating IgA level OMIM:146830
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Macroorchidism, Congestive heart failure OMIM:300886
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency
Atrophic gastritis, Psoriasiform dermatitis, Eczema, Pneumonia, Diarrhea, Recurrent upper respira... ORPHA:436159
Prolactin Deficiency With Obesity And Enlarged Testes
Macroorchidism, Reduced circulating prolactin concentration OMIM:264120
Papular Xanthoma
Hyperlipidemia ORPHA:158008
Macroglobulinemia, Waldenstrom, Susceptibility To, 1
Impaired lymphocyte transformation with phytohemagglutinin, Monoclonal immunoglobulin M proteinem... OMIM:153600
Autoimmune Lymphoproliferative Syndrome, Type Iii
Increased proportion autoreactive unresponsive CD21-/low B cells, Generalized lymphadenopathy, In... OMIM:615559
Immunodeficiency 62
Recurrent herpes, Autoimmune thrombocytopenia, Severe recurrent varicella, Decreased proportion o... OMIM:618459
Hepatic Lipase Deficiency
Hypercholesterolemia, Hypertriglyceridemia, Increased HDL cholesterol concentration OMIM:614025
Immunodeficiency 102
Increased circulating interleukin 6 concentration, Sepsis, Leukopenia, Decreased circulating IgG ... OMIM:301082
B-Cell Expansion With Nfkb And T-Cell Anergy
Decreased specific antibody response to polysaccharide vaccine, Splenomegaly, Recurrent infection... OMIM:616452
Immunodeficiency 57 With Autoinflammation
Recurrent respiratory infections, Failure to thrive, Gastritis, Skin rash, Perianal abscess, Diar... OMIM:618108
Isolated Follicle Stimulating Hormone Deficiency
Decreased serum testosterone concentration, Hyperplasia of the Leydig cells, Decreased female lib... ORPHA:52901
Hypogonadotropic Hypogonadism 11 With Or Without Anosmia
Hypogonadotropic hypogonadism, Cryptorchidism, Absence of pubertal development, Primary amenorrhe... OMIM:614840
Infection-Related Hemolytic Uremic Syndrome
Increased circulating interleukin 6 concentration, Intestinal perforation, Secretory diarrhea, Bl... ORPHA:544482
Immunoglobulin Kappa Light Chain Deficiency
Recurrent respiratory infections, Abnormal immunoglobulin level, Diarrhea, Chronic diarrhea, Recu... OMIM:614102
Lipase Deficiency, Combined
Hypertriglyceridemia OMIM:246650
Immunodeficiency, Common Variable, 2
Impaired T cell function, Follicular hyperplasia, Splenomegaly, Recurrent pneumonia, Lymphadenopa... OMIM:240500
Persistent Polyclonal B-Cell Lymphocytosis
Splenomegaly, Decreased circulating total IgM, Lymphocytosis, Recurrent infections OMIM:606445
Immunodeficiency 105
Impaired lymphocyte transformation with phytohemagglutinin, Lymphopenia, Pancytopenia, Absence of... OMIM:619924
Lymphoproliferative Syndrome, X-Linked, 1
Recurrent respiratory infections, Pancytopenia, Aplastic anemia, Dysgammaglobulinemia, Reduced na... OMIM:308240
Immunodeficiency 32B
Recurrent respiratory infections, Sinusitis, Neutrophilia, Pneumonia, Eosinophilia, Thrombocytope... OMIM:226990
Hyperlipidemia Due To Hepatic Triacylglycerol Lipase Deficiency
Hypertriglyceridemia, Increased HDL cholesterol concentration ORPHA:140905
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Recurrent herpes, Decreased proportion of naive T cells, Sepsis, Recurrent cutaneous fungal infec... ORPHA:276
Agammaglobulinemia 6, Autosomal Recessive
Diarrhea, Recurrent pneumonia, Agammaglobulinemia, Decreased circulating total IgM, Recurrent bac... OMIM:612692
Spermatogenic Failure 63
Male infertility, Reduced progressive sperm motility, Decreased testicular size, Oligozoospermia OMIM:619689
Selective Igm Deficiency
Recurrent herpes, Fasciitis, Recurrent staphylococcal infections, Severe varicella zoster infecti... ORPHA:331235
Gamma-A-Globulin, Defect In Assembly Of
Recurrent respiratory infections, Decreased circulating IgA level OMIM:137050
Cataract 9, Multiple Types
Progressive cataract, Cataract, Developmental cataract, Microcornea, Microphthalmia, Iris coloboma OMIM:604219
Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities
Cataract, Infertility OMIM:300719
Immunodeficiency Due To Defect In Mapbp-Interacting Protein
Decreased circulating total IgM, Recurrent bronchopulmonary infections, Neutropenia OMIM:610798
Incessant Infant Ventricular Tachycardia
Wolff-Parkinson-White syndrome, Bundle branch block, Prolonged QRS complex, Cardiac arrest, Conge... ORPHA:45453
Isochromosomy Yq
Male infertility, Gonadal tissue inappropriate for external genitalia or chromosomal sex, Varicoc... ORPHA:98798
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 2, Autosomal Dominant
Increased circulating IgE level, Recurrent infections OMIM:618985
Immunodeficiency 38 With Basal Ganglia Calcification
Recurrent mycobacterial infections, Lymphadenopathy OMIM:616126
Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation
Non-obstructive azoospermia, Increased circulating gonadotropin level, Abnormal spermatogenesis, ... ORPHA:399805
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Absent specific antibody response, Lymphopenia, Severe B lymphocytopenia, Aplasia of the thymus, ... OMIM:102700
Cataract 11, Multiple Types
Microphthalmia, Cataract, Developmental cataract OMIM:610623
Inflammatory Skin And Bowel Disease, Neonatal, 2
Increased circulating IgE level, Recurrent bronchiolitis, Recurrent pneumonia OMIM:616069
Mendelian Susceptibility To Mycobacterial Diseases Due To Complete Il12Rb1 Deficiency
Pneumonia, Tegumentary leishmaniasis susceptibility, Recurrent mycobacterial infections, Lymphade... ORPHA:319552
Microphthalmia, Isolated, With Coloboma 3
Microphthalmia, Cataract, Iris coloboma OMIM:610092
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Eosinophilia, Autoimmune thrombocytopenia, Thrombocytopenia, Severe infection, Increased circulat... OMIM:304790
Combined Cellular And Humoral Immune Defects With Granulomas
Recurrent respiratory infections, Decreased circulating IgG level, B lymphocytopenia, T lymphocyt... OMIM:233650
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Recurrent respiratory infections, Recurrent urinary tract infections, Autoimmune hemolytic anemia... OMIM:618495
Spermatogenic Failure, X-Linked, 2
Male infertility, Azoospermia, Testicular atrophy, Spermatogenesis maturation arrest OMIM:309120
Adult Idiopathic Neutropenia
Helicobacter pylori infection, Abnormal neutrophil count, Recurrent infections, Increased circula... ORPHA:2688
Nathalie Syndrome
Arrhythmia, Cataract ORPHA:2663
Lymphoproliferative Syndrome, X-Linked, 2
Recurrent respiratory infections, Acne, Recurrent skin infections, Erythema nodosum, Increased ci... OMIM:300635
Brugada Syndrome
Tachycardia, Cardiac arrest, First degree atrioventricular block, Trifascicular block, ST segment... ORPHA:130
Immunodeficiency 70
Decreased circulating total IgG, Furuncle, Celiac disease, Decreased circulating antibody level, ... OMIM:618969
Whim Syndrome 1
Recurrent upper respiratory tract infections, Bronchiectasis, Decreased circulating antibody leve... OMIM:193670
Immunodeficiency 15B
Recurrent infections, Agammaglobulinemia, Decreased circulating antibody level, Monocytosis, Decr... OMIM:615592
Immunodeficiency 14B, Autosomal Recessive
Candida esophagitis, Reduced natural killer cell activity, Recurrent pneumonia, Chronic diarrhea,... OMIM:619281
Hyperlipidemia, Familial Combined, 3
Increased VLDL cholesterol concentration, Hyperlipidemia, Elevated circulating apolipoprotein B c... OMIM:144250
Immunodeficiency 33
Pneumocystis jirovecii pneumonia, Increased circulating IgA level, Decreased circulating total Ig... OMIM:300636
Intellectual Developmental Disorder, X-Linked, Syndromic 11
Macroorchidism OMIM:300238
Immunodeficiency 85 And Autoimmunity
Recurrent respiratory infections, Lymphopenia, Persistent EBV viremia, Decreased circulating tota... OMIM:619510
Microcephaly-Microcornea Syndrome, Seemanova Type
Microcornea, Microphthalmia, Cataract, Hypogonadism ORPHA:2528
Macrophage Activation Syndrome
Increased inflammatory response, Increased circulating interleukin 6 concentration, Thrombocytope... ORPHA:158061
Morbid Obesity And Spermatogenic Failure
Increased LDL cholesterol concentration, Decreased HDL cholesterol concentration, Hypertriglyceri... OMIM:615703
Pgm3-Cdg
Recurrent viral infections, Abnormal CD4:CD8 ratio, Sepsis, Increased circulating IgG level, Leuk... ORPHA:443811
Autoimmune Lymphoproliferative Syndrome
Autoimmune hemolytic anemia, Chronic noninfectious lymphadenopathy, Eosinophilia, Increased circu... OMIM:601859
Inflammatory Bowel Disease (Crohn Disease) 1
Intestinal obstruction, Abdominal pain, Diarrhea, Ulcerative colitis, Inflammation of the large i... OMIM:266600
Agammaglobulinemia, X-Linked
Sepsis, T lymphocytopenia, Decreased circulating IgE, Neutropenia, Decreased circulating IgG leve... OMIM:300755
Immunodeficiency 46
Recurrent sinopulmonary infections, Intermittent thrombocytopenia, Neutropenia, Sepsis, Decreased... OMIM:616740
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... ORPHA:70593
Immunodeficiency 75 With Lymphoproliferation
Recurrent respiratory infections, Follicular hyperplasia, Hepatosplenomegaly, Lymphadenopathy, Pe... OMIM:619126
Spastic Paraplegia-Precocious Puberty Syndrome
Hyperplasia of the Leydig cells, Precocious puberty in males ORPHA:2826
Coronary Artery Disease, Autosomal Dominant 2
Increased LDL cholesterol concentration, Hypertriglyceridemia OMIM:610947
Immunodeficiency 36 With Lymphoproliferation
Lymphopenia, Persistent CMV viremia, Splenomegaly, Recurrent upper respiratory tract infections, ... OMIM:616005
Spastic Paraparesis And Deafness
Cataract, Hypogonadism OMIM:312910
Immunodeficiency 23
Recurrent respiratory infections, Hemolytic anemia, Abscess, Recurrent staphylococcal infections,... OMIM:615816
Microphthalmia, Isolated, With Coloboma 4
Microcornea, Microphthalmia OMIM:251505
Immunodeficiency, Common Variable, 8, With Autoimmunity
Atrophic gastritis, Villous atrophy, Sepsis, Uveitis, Inflammation of the large intestine, Coliti... OMIM:614700
Cardiomyopathy, Dilated, 1E
Atrial flutter, Atrial fibrillation, Reduced systolic function, Atrial standstill, Dilated cardio... OMIM:601154
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Generalized lymphadenopathy, Lymphadenitis, Severe varicella zoster infection, Sepsis, Leukopenia... OMIM:618986
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2
Pneumonia, Diarrhea, Recurrent upper respiratory tract infections, Recurrent candida infections, ... OMIM:614069
Sweet Syndrome
Acute myeloid leukemia, Predominantly dermal neutrophilic infiltrate, Myositis, Increased circula... ORPHA:3243
Systemic Lupus Erythematosus 16
Antinuclear antibody positivity, Perinuclear antineutrophil antibody positivity, Anti-dsDNA antib... OMIM:614420
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant
Pneumonia, Recurrent upper respiratory tract infections, Atopic dermatitis, T lymphocytopenia, Ab... OMIM:618806
Cardiomyopathy, Dilated, 1U
Increased left ventricular end-diastolic volume, First degree atrioventricular block, Congestive ... OMIM:613694
Familial Progressive Cardiac Conduction Defect
Bundle branch block, Heart block, Congestive heart failure, Syncope, Arrhythmia ORPHA:871
Megalencephaly
Macroorchidism, Long penis ORPHA:2477
Immunodeficiency, Common Variable, 12, With Autoimmunity
Recurrent sinopulmonary infections, Atrophic gastritis, Autoimmune hemolytic anemia, Recurrent sk... OMIM:616576
Premature Ovarian Failure 12
Microphthalmia, Primary amenorrhea OMIM:616947
Isolated Agammaglobulinemia
Recurrent cutaneous abscess formation, Recurrent respiratory infections, Sinusitis, Skin rash, Pn... ORPHA:229717
Immunodeficiency 44
Lymphopenia, Severe viral infection, Decreased circulating total IgM, Abnormal circulating IgG le... OMIM:616636
Nanophthalmos 1
Bilateral microphthalmos OMIM:600165
Microphthalmia, Isolated 7
Microphthalmia OMIM:613704
Nanophthalmos 2
Microphthalmia OMIM:609549
Hypogonadism, Male
Male hypogonadism, Micropenis, Hypospadias, Testicular atrophy OMIM:241100
Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive
Increased LDL cholesterol concentration, Hypertriglyceridemia, Elevated circulating creatine kina... OMIM:616516
Lymphoproliferative Syndrome 2
Pancytopenia, Aplastic anemia, Splenomegaly, Severe varicella zoster infection, Recurrent pneumon... OMIM:615122
Combined Immunodeficiency Due To Zap70 Deficiency
Recurrent viral infections, Lymphadenitis, Colitis, Lymphocytosis, Autoimmune thrombocytopenia, C... ORPHA:911
Progressive Familial Heart Block, Type Ia
Sudden cardiac death, Left posterior fascicular block, Right bundle branch block, Syncope, Prolon... OMIM:113900
Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency
Recurrent bacterial infections, Neutropenia, Recurrent staphylococcal infections, Recurrent strep... ORPHA:70592
Severe Combined Immunodeficiency Due To Dclre1C Deficiency
Skin rash, Recurrent viral infections, Recurrent mycobacterial infections, Recurrent opportunisti... ORPHA:275
Immunodeficiency With Hyper-Igm, Type 4
Autoimmune hemolytic anemia, Impaired Ig class switch recombination, Absence of lymph node germin... OMIM:608184
Familial Hemophagocytic Lymphohistiocytosis
Increased circulating interleukin 6 concentration, Maculopapular exanthema, Skin rash, Reduced na... ORPHA:540
Immunodeficiency By Defective Expression Of Mhc Class Ii
Sinusitis, Recurrent viral infections, Abnormal CD4:CD8 ratio, Acute otitis media, Recurrent cand... ORPHA:572
17Q11.2 Microduplication Syndrome
Macroorchidism ORPHA:139474
Mmep Syndrome
Microphthalmia, Cryptorchidism ORPHA:3434
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
Impaired lymphocyte transformation with phytohemagglutinin, Intestinal obstruction, Absent natura... OMIM:600802
Glycosylphosphatidylinositol Biosynthesis Defect 17
Hypertriglyceridemia OMIM:618010
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies
Microphthalmia, Retinal degeneration OMIM:251700
Lecithin:Cholesterol Acyltransferase Deficiency
Decreased HDL cholesterol concentration, Hypertriglyceridemia OMIM:245900
Peeling Skin Syndrome 1
Increased circulating IgE level, Eosinophilia OMIM:270300
Autosomal Agammaglobulinemia
Recurrent respiratory infections, Sinusitis, Osteomyelitis, Skin rash, Recurrent skin infections,... ORPHA:33110
Agammaglobulinemia 1, Autosomal Recessive
Recurrent respiratory infections, Recurrent pneumonia, Neutropenia, Bronchiectasis, Chronic diarr... OMIM:601495
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Splenomegaly, Recurrent upper respiratory tract infections, Hepatosplenomegaly, Lymphadenopathy, ... OMIM:613101
Netherton Syndrome
Recurrent respiratory infections, Increased circulating IgE level, Hypereosinophilia, Sepsis, Dec... OMIM:256500
Gombo Syndrome
Microphthalmia, Delayed puberty OMIM:233270
Atkin-Flaitz Syndrome
Macroorchidism ORPHA:1193
Diarrhea 6
Chronic diarrhea, Crohn's disease, Abdominal pain OMIM:614616
Autoinflammation, Antibody Deficiency, And Immune Dysregulation
Recurrent sinopulmonary infections, Enterocolitis, Ulcerative colitis, Decreased circulating tota... OMIM:614878
Macrosomia-Microphthalmia-Cleft Palate Syndrome
Microcornea, Microphthalmia, Corneal opacity ORPHA:2432
Fragile X Syndrome
Macroorchidism, postpubertal, Congenital macroorchidism OMIM:300624
Inflammatory Bowel Disease (Crohn Disease) 30
Gastritis, Duodenitis, Abdominal pain, Chronic diarrhea, Pancolitis, Bloody diarrhea, Protein-los... OMIM:619079
Autoimmune Disease, Multisystem, Infantile-Onset, 2
Impaired lymphocyte transformation with phytohemagglutinin, Increased CD4:CD8 ratio, Autoimmunity... OMIM:617006
X-Linked Intellectual Disability, Shashi Type
Macroorchidism ORPHA:85286
Neuronal Intestinal Pseudoobstruction
Decreased circulating antibody level, Recurrent infections, Malabsorption ORPHA:99811
Immunodeficiency 27A
Increased inflammatory response, Abnormal bronchus physiology, Pneumonia, Splenomegaly, Leukocyto... OMIM:209950
Microphthalmia, Isolated, With Coloboma 10
Microcoria, Microphthalmia, Anophthalmia, Iris coloboma OMIM:616428
Hemophagocytic Lymphohistiocytosis, Familial, 3
Hypertriglyceridemia OMIM:608898
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts
Microphthalmia, Cataract, Optic disc pallor, Cryptorchidism OMIM:613730
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Hemolytic anemia, Autoimmune hemolytic anemia, Autoimmunity, Autoimmune thrombocytopenia, Splenom... ORPHA:444463
Mu-Heavy Chain Disease
Abnormal B cell count, Splenomegaly, Lymphadenopathy, Increased circulating antibody level, Anemia ORPHA:100024
Cardiomyopathy, Dilated, 1Bb
Increased left ventricular end-diastolic volume, Congestive heart failure, Dilated cardiomyopathy... OMIM:612877
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome
Increased circulating IgE level ORPHA:1858
Proton-Pump Inhibitor-Responsive Esophageal Eosinophilia
Abnormal peristalsis, Esophageal food impaction, Lactose intolerance, Esophageal stenosis, Allerg... ORPHA:411696
Intellectual Developmental Disorder, X-Linked 21
Macroorchidism OMIM:300143
Non-Functioning Pituitary Adenoma
Decreased response to growth hormone stimulation test, Reduced circulating prolactin concentratio... ORPHA:91349
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1
Failure to thrive, Sinusitis, Pneumonia, Malabsorption, Protruding tongue, Diarrhea, Bronchiectas... OMIM:242860
Idiopathic Achalasia
Bronchitis, Wheezing, Dysphagia, Weight loss, Gastroesophageal reflux, Cough, Recurrent aspiratio... ORPHA:930
Transcobalamin Deficiency
Lymphopenia, Pancytopenia, Decreased circulating antibody level, Decreased circulating total IgM,... ORPHA:859
Testicular Regression Syndrome
Decreased testicular size, Abnormal male internal genitalia morphology, Hypoplasia of penis, Male... ORPHA:983
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Macroorchidism, Congestive heart failure ORPHA:3077
Dystrophic Epidermolysis Bullosa Pruriginosa
Increased circulating IgE level ORPHA:89843
Immunodeficiency, Common Variable, 10
Recurrent oral herpes, Frequent Giardia lamblia infestation, Psoriasiform dermatitis, Decreased r... OMIM:615577
Pneumocystosis
Multiple pulmonary cysts, Respiratory failure requiring assisted ventilation, Abnormal neutrophil... ORPHA:723
Wiskott-Aldrich Syndrome
Recurrent herpes, Abnormal delayed hypersensitivity skin test, Sepsis, Iron deficiency anemia, Ab... OMIM:301000
Immunodeficiency 98 With Autoinflammation, X-Linked
Autoimmune hemolytic anemia, Pneumocystis jirovecii pneumonia, Splenomegaly, Neutropenia, Lymphad... OMIM:301078
Cardiomyopathy, Dilated, 1V
Increased left ventricular end-diastolic volume, Atrial fibrillation, First degree atrioventricul... OMIM:613697
Microphthalmia, Isolated 5
Optic disc pallor, Bone spicule pigmentation of the retina, Cataract, Retinal pigment epithelial ... OMIM:611040
Igg4-Related Aortitis
Increased circulating IgG4 level, Increased circulating IgE level, Hypereosinophilia, Increased c... ORPHA:449400
Hashimoto Thyroiditis
Autoimmune antibody positivity, Hashimoto thyroiditis OMIM:140300
Immunodeficiency, Common Variable, 14
Psoriasiform dermatitis, Chronic diarrhea, Decreased circulating total IgM, Recurrent sinusitis, ... OMIM:617765
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome
Microphthalmia, Optic atrophy, Abnormality of retinal pigmentation ORPHA:1574
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome
Abnormality of the ovary, Cataract, Hypogonadism, Decreased testicular size ORPHA:1875
Immunodeficiency 15A
Recurrent respiratory infections, Decreased proportion of CD8-positive T cells, Decreased proport... OMIM:618204
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma
Macular atrophy, Shallow anterior chamber, Cystoid macular degeneration, Microphthalmia, Retinal ... OMIM:267760
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction
Increased left ventricular end-diastolic volume, Sudden cardiac death, Congestive heart failure, ... OMIM:601493
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy
Atrial flutter, Tachycardia, Atrial fibrillation, Cardiac arrest, Congestive heart failure, Dilat... OMIM:616117
Functioning Gonadotropic Adenoma
Decreased response to growth hormone stimulation test, Pituitary gonadotropic cell adenoma, Isose... ORPHA:91348
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Retinal detachment, Cataract, Corneal opacity, Optic atrophy, Microphthalmia, Posterior embryotox... ORPHA:1473
46,Xx Testicular Difference Of Sex Development
Ambiguous genitalia, Male hypogonadism, Decreased testicular size, Polycystic ovaries ORPHA:393
Car T Cell Therapy-Associated Cytokine Release Syndrome
Increased inflammatory response, Increased circulating interleukin 6 concentration, Skin rash, Di... ORPHA:542323
Brugada Syndrome 1
Atrial flutter, Atrial fibrillation, Cardiac arrest, Supraventricular tachycardia with an accesso... OMIM:601144
Inflammatory Bowel Disease 25, Autosomal Recessive
Enterocutaneous fistula, Perianal abscess, Pancolitis, Enterocolitis, Folliculitis, Rectovaginal ... OMIM:612567
Atrial Standstill
Ventricular escape rhythm, Cardiac conduction abnormality, Atrial standstill, Congestive heart fa... ORPHA:1344
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome
Hypertriglyceridemia ORPHA:436182
Papa Syndrome
Increased inflammatory response, Myositis, Acne, Pustule, Arthritis, Increased circulating antibo... ORPHA:69126
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency
Chronic gastritis, Liver abscess, Cholangitis, Bronchitis, Sepsis, Cholecystitis, Decreased circu... ORPHA:183675
47,Xyy Syndrome
Male infertility, Hypospadias, Cryptorchidism, Increased circulating gonadotropin level, Oligozoo... ORPHA:8
Foveal Hypoplasia 2
Hypoplasia of the fovea, Astigmatism, Axenfeld anomaly, Microphthalmia, Posterior embryotoxon OMIM:609218
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Abnormal T cell count, Recurrent viral infections, Lymphadenitis, Decreased proportion of CD3-pos... ORPHA:331206
Muscular Dystrophy, Congenital, With Infantile Cataract And Hypogonadism
Cataract, Hypogonadism OMIM:254000
Cernunnos-Xlf Deficiency
Recurrent viral infections, Thrombocytopenia, Decreased circulating antibody level, Recurrent bac... ORPHA:169079
Vulvovaginal Gingival Syndrome
Abnormality of tumor necrosis factor secretion ORPHA:83453
Autoimmune Disease, Multisystem, Infantile-Onset, 1
Autoimmune hemolytic anemia, Eczema, Autoimmune thrombocytopenia, Celiac disease, Desquamative in... OMIM:615952
Diarrhea 8, Secretory Sodium, Congenital
Abdominal distention, Inflammation of the large intestine, Secretory diarrhea, Elevated fecal sodium OMIM:616868
Immunodeficiency 22
Abscess, Thrombocytopenia, Recurrent upper respiratory tract infections, Decreased circulating to... OMIM:615758
Immunodeficiency 97 With Autoinflammation
Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, Decreased circulating IgG level, ... OMIM:619802
Autoimmune Lymphoproliferative Syndrome
Increased circulating IgG level, Lymphocytosis, Increased B cell count, Decreased circulating IgG... ORPHA:3261
Aregenerative Anemia
Pancytopenia, Erythroid hypoplasia, Dyspnea, Reticulocytopenia, Neutropenia, Decreased proportion... ORPHA:101096
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Recurrent viral infections, T lymphocytopenia, Recurrent abscess formation, Cough, Recurrent aspi... ORPHA:79124
Immunodeficiency 12
Skin rash, Abnormal lymphocyte count, Recurrent viral infections, Esophageal stricture, Bronchiec... OMIM:615468
Progressive Familial Heart Block, Type Ib
Prolonged QT interval, Shortened PR interval, Atrioventricular block, Right bundle branch block, ... OMIM:604559
Isolated Congenital Hypoglossia/Aglossia
Respiratory distress, Dyspnea, Upper airway obstruction, Cleft palate, Weight loss, Aspiration pn... ORPHA:141152
Corneal Dystrophy, Groenouw Type I
Punctate corneal dystrophy, Cataract, Nodular corneal dystrophy, Granular corneal dystrophy OMIM:121900
Microphthalmia, Isolated 2
Microphthalmia, Opacification of the corneal stroma OMIM:610093
Autosomal Dominant Severe Congenital Neutropenia
Acute myeloid leukemia, Recurrent sinopulmonary infections, Recurrent skin infections, Pneumonia,... ORPHA:486
Congenital Primary Aphakia
Aplasia/Hypoplasia affecting the anterior segment of the eye, Sclerocornea, Retinal dysplasia, Mi... ORPHA:83461
Autoimmune Lymphoproliferative Syndrome, Type Iia
Autoimmune hemolytic anemia, Chronic noninfectious lymphadenopathy, Eosinophilia, Increased circu... OMIM:603909
Granulomatous Disease, Chronic, Autosomal Recessive, 3
Elevated circulating C-reactive protein concentration, Abdominal pain, Diarrhea, Recurrent infect... OMIM:613960
Cd8 Deficiency, Familial
Recurrent respiratory infections, Recurrent viral infections, Absence of CD8-positive T cells, Br... OMIM:608957
Atrial Septal Defect-Atrioventricular Conduction Defects Syndrome
Bundle branch block, Arrhythmia ORPHA:1479
Nanophthalmos
Microphthalmia, Abnormality of retinal pigmentation ORPHA:35612
Hypertriglyceridemia, Transient Infantile
Hypertriglyceridemia OMIM:614480
Ventricular Tachycardia, Familial
Right bundle branch block, Cardiomyopathy, Paroxysmal ventricular tachycardia, Sudden cardiac death OMIM:192605
Cataract-Intellectual Disability-Anal Atresia-Urinary Defects Syndrome
Hypoplasia of penis, Aplasia/Hypoplasia of the lens, Hypospadias, Cataract, Cryptorchidism ORPHA:1381
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3
Microphthalmia OMIM:616335
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome
Remnants of the hyaloid vascular system, Microcornea, Posterior lenticonus, Microphthalmia, Iris ... ORPHA:231736
Male Infertility With Teratozoospermia Due To Single Gene Mutation
Non-obstructive azoospermia, Increased circulating gonadotropin level, Abnormal sperm tail morpho... ORPHA:399808
Cataract 42
Cataract, Developmental cataract OMIM:115900
Cardiomyopathy, Familial Hypertrophic, 6
Wolff-Parkinson-White syndrome, Atrial fibrillation, Prolonged QRS complex, Congestive heart fail... OMIM:600858
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia
Recurrent urinary tract infections, Enteroviral dermatomyositis syndrome, Sinusitis, Pneumonia, E... OMIM:307200
Polyembryoma
Abnormal circulating gonadotropin concentration, Isosexual precocious puberty, Abnormality of the... ORPHA:180229
Immunodeficiency, Common Variable, 13
Pancytopenia, Decreased circulating antibody level, Acute lymphoblastic leukemia, Recurrent bacte... OMIM:616873
Intellectual Developmental Disorder, X-Linked, Syndromic 13
Macroorchidism, Male hypogonadism, Juvenile cataract OMIM:300055
Glycogen Storage Disease Ixa1
Hypercholesterolemia, Hypertriglyceridemia, Hyperuricemia OMIM:306000
Ataxia-Pancytopenia Syndrome
Recurrent respiratory infections, Pancytopenia, Abnormal macrophage morphology, Abnormality of ne... ORPHA:2585
Precocious Puberty, Male-Limited
Decreased testicular size, Precocious puberty in males OMIM:176410
Encephalopathy, Progressive, With Or Without Lipodystrophy
Hypertriglyceridemia OMIM:615924
Nathalie Syndrome
Abnormal EKG, Cataract OMIM:255990
Aspergillosis
Sinusitis, Cough, Neutropenia, Infectious encephalitis, Chronic pulmonary obstruction, Bronchiect... ORPHA:1163
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis
Abnormality of the tonsils, Decreased proportion of CD8-positive T cells, Decreased circulating t... OMIM:611926
Microphthalmia, Syndromic 5
Ectopic posterior pituitary, Anophthalmia, Cataract, Optic nerve hypoplasia, Cryptorchidism, Micr... OMIM:610125
Cardiomyopathy, Familial Hypertrophic, 16
Atrial fibrillation, Sudden cardiac death, Ventricular tachycardia, Left bundle branch block, Asy... OMIM:613838
Microphthalmia, Isolated, With Coloboma 5
Microphthalmia, Iris coloboma, Anophthalmia, Bilateral microphthalmos OMIM:611638
Idiopathic Bronchiectasis
Crackles, Productive cough, Respiratory tract infection, Dyspnea, Wheezing, Emphysema, Cachexia, ... ORPHA:60033
Cofs Syndrome
Abnormality of retinal pigmentation, Cataract, Optic atrophy, Hypogonadism, Microphthalmia ORPHA:1466
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome
Atrial flutter, Tricuspid regurgitation, Congestive heart failure, Mitral regurgitation, Macroorc... ORPHA:324410
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome
Macroorchidism, Decreased serum insulin-like growth factor 1, Elevated circulating growth hormone... ORPHA:85327
Microphthalmia, Syndromic 8
Microcornea, Microphthalmia, Cryptorchidism OMIM:601349
Hypobetalipoproteinemia, Familial, 1
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Decreased LDL cholesterol concentr... OMIM:615558
Microphthalmia, Isolated, With Coloboma 7
Microphthalmia, Iris coloboma OMIM:614497
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb
Macroorchidism, Iris coloboma, Hypospadias, Unilateral microphthalmos OMIM:618874
Fragile X Syndrome
Macroorchidism ORPHA:908
Immunodeficiency 92
Osteomyelitis, Pneumonia, Cholangitis, Leukocytosis, Chronic diarrhea, Decreased proportion of cl... OMIM:619652
Congenital Heart Defects, Multiple Types, 3
Tachycardia, Atrial fibrillation, Atrioventricular block, Right bundle branch block, Atrioventric... OMIM:614954
Clark-Baraitser syndrome
Macroorchidism OMIM:300602
Facial Dysmorphism, Immunodeficiency, Livedo, And Short Stature
Decreased circulating total IgM, Recurrent lower respiratory tract infections, Recurrent upper re... OMIM:615139
Proteasome-Associated Autoinflammatory Syndrome 2
Increased CD4:CD8 ratio, Recurrent viral infections, Increased circulating IgA level, Decreased p... OMIM:618048
Spinocerebellar Ataxia Type 32
Male infertility, Azoospermia, Testicular atrophy ORPHA:276183
Postinfectious Vasculitis
Elevated circulating C-reactive protein concentration, Anorexia, Severe varicella zoster infectio... ORPHA:48435
Visceral Myopathy 2
Intestinal obstruction, Necrotizing enterocolitis, Intestinal pseudo-obstruction, Intestinal malr... OMIM:619350
Brugada Syndrome 2
Sudden cardiac death, First degree atrioventricular block, Right bundle branch block, Syncope, Pr... OMIM:611777
Niemann-Pick Disease, Type B
Increased LDL cholesterol concentration, Decreased HDL cholesterol concentration, Hypertriglyceri... OMIM:607616
Obesity Due To Melanocortin 4 Receptor Deficiency
Hypertriglyceridemia ORPHA:71529
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2
Optic disc pallor, Cataract, Macular atrophy, Optic atrophy, Microcornea, Microphthalmia OMIM:616171
Atrial Septal Defect, Sinus Venosus Type
Automatic atrial tachycardia, Atrial flutter, Tricuspid regurgitation, Left-to-right shunt, Atria... ORPHA:99105
Spinocerebellar Ataxia 32
Azoospermia, Testicular atrophy, Infertility OMIM:613909
Immunodeficiency 56
Recurrent infection of the gastrointestinal tract, Recurrent respiratory infections, Pneumocystis... OMIM:615207
Immunodeficiency 32A
Lymphadenitis, BCGitis, Recurrent infections, Lymphadenopathy, Granuloma OMIM:614893
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy
Recurrent respiratory infections, Candida esophagitis, Perianal abscess, Severe varicella zoster ... OMIM:618213
Neutral Lipid Storage Disease With Myopathy
Hypertriglyceridemia, Elevated circulating creatine kinase concentration OMIM:610717
Fragile Site, Distamycin A Type, Rare, Fra(16)(Q22.1)
Abnormal lymph node morphology OMIM:136580
Microphthalmia, Syndromic 12
Microphthalmia, Anophthalmia, Bicornuate uterus, Cryptorchidism OMIM:615524
Body Mass Index Quantitative Trait Locus 19
Hyperlipidemia, Hypertriglyceridemia OMIM:617885
Leukoencephalopathy With Vanishing White Matter 2
Premature ovarian insufficiency, Optic atrophy, Secondary amenorrhea, Cataract OMIM:620312
Whim Syndrome
Abnormal small intestine morphology, Sinusitis, Severe periodontitis, Pneumonia, Respiratory trac... ORPHA:51636
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development
Microphthalmia, Cataract, Iris coloboma OMIM:120433
Cardiomyopathy, Dilated, 2G
Aortic regurgitation, Tachycardia, Tricuspid regurgitation, Cerebral hemorrhage, Dilated cardiomy... OMIM:619897
Common Variable Immunodeficiency
Recurrent respiratory infections, Hemolytic anemia, Failure to thrive in infancy, Pneumonia, Auto... ORPHA:1572
Cardiomyopathy, Familial Hypertrophic, 11
Atrial flutter, Angina pectoris, Cardiac arrest, Congestive heart failure, Ventricular tachycardi... OMIM:612098
Tularemia
Respiratory distress, Brain abscess, Skin rash, Pneumonia, Erythema nodosum, Thrombocytopenia, Le... ORPHA:3392
Microphthalmia, Isolated, With Coloboma 6
Hypoplasia of the fovea, Bilateral microphthalmos, Optic disc hypoplasia OMIM:613703
Biemond Syndrome Type 2
Hypogonadotropic hypogonadism, Hypospadias, Hypogonadism, Delayed puberty, Microphthalmia ORPHA:141333
T-Cell Immunodeficiency With Thymic Aplasia
Sinusitis, Decreased proportion of naive T cells, Sepsis, Recurrent candida infections, T lymphoc... ORPHA:83471
Persistent Hyperplastic Primary Vitreous
Glial remnants anterior to the optic disc, Cataract, Corneal opacity, Hyaloid vascular remnant an... ORPHA:91495
Nanophthalmos 4
Microphthalmia, Optic disc drusen OMIM:615972
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10
Right ventricular cardiomyopathy, Sudden cardiac death, Ventricular tachycardia, Premature ventri... OMIM:610193
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Respiratory distress, Myositis, Secretory diarrhea, Sepsis, Tubulointerstitial nephritis, Iron de... ORPHA:37042
Hypogonadism-Cataract Syndrome
Cataract, Hypogonadism, Elevated circulating follicle stimulating hormone level, Infertility, Mal... OMIM:240950
Immunodeficiency 76
Splenomegaly, Recurrent pneumonia, Lymphadenopathy, T lymphocytopenia, B lymphocytopenia, Lymphop... OMIM:619164
Immunodeficiency 17
Recurrent respiratory infections, Autoimmune hemolytic anemia, Eczema, Decreased proportion of CD... OMIM:615607
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome
Microphthalmia, Ocular anterior segment dysgenesis, Retinal dysplasia, Developmental cataract ORPHA:324416
Lujan-Fryns Syndrome
Macroorchidism ORPHA:776
Anterior Segment Dysgenesis 7
Cataract, Corneal opacity, Sclerocornea, Buphthalmos, Microcornea, Anterior synechiae of the ante... OMIM:269400
Warburg Micro Syndrome 1
External genital hypoplasia, Cryptorchidism, Optic atrophy, Developmental cataract, Microcornea, ... OMIM:600118
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Acute pancreatitis, Anal fissure, Eczema, Perianal abscess, Lymphadenitis, Recurrent pneumonia, R... OMIM:618935
Immunodeficiency 58
Colitis, Chronic otitis media, Recurrent cutaneous abscess formation, Chronic diarrhea, Bronchiec... OMIM:618131
C1Q Deficiency 1
Autoimmunity, Systemic lupus erythematosus OMIM:613652
Asthma, Short Stature, And Elevated Iga
Increased circulating IgA level OMIM:208600
Inflammatory Bowel Disease 13
Inflammation of the large intestine OMIM:612244
Inflammatory Bowel Disease (Crohn Disease) 19
Inflammation of the large intestine OMIM:612278
Autosomal Dominant Keratitis
Hypoplasia of the fovea, Cataract, Keratitis, Bilateral microphthalmos, Abnormal corneal limbus m... ORPHA:2334
X-Linked Intellectual Disability-Hypogonadism-Ichthyosis-Obesity-Short Stature Syndrome
Cryptorchidism, Hypoplasia of penis, Aplasia/Hypoplasia of the testes ORPHA:3055
Ciliary Dyskinesia, Primary, 9
Neonatal respiratory distress, Pneumonia, Cough, Bronchiectasis, Decreased nasal nitric oxide, Re... OMIM:612444
Cardiomyopathy, Familial Hypertrophic, 14
Congestive heart failure, Severely reduced left ventricular ejection fraction, Ventricular tachyc... OMIM:613251
Xp22.13P22.2 Duplication Syndrome
Macroorchidism, Polycystic ovaries ORPHA:284180
Megalocornea
Iridodonesis, Retinal detachment, Cataract, Mosaic corneal dystrophy, Deep anterior chamber, Iris... OMIM:309300
Immunodeficiency 93 And Hypertrophic Cardiomyopathy
Bronchiectasis, Agammaglobulinemia, Decreased circulating total IgM, Crohn's disease, Decreased c... OMIM:619705
Congenital Varicella Syndrome
Microphthalmia, Cataract ORPHA:291
Lymphoproliferative Syndrome 1
Pancytopenia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Thrombocyto... OMIM:613011
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Abscess, Intermittent thrombocytopenia, Abnormal CD4:CD8 ratio, Splenomegaly, Recurrent pneumonia... OMIM:150550
Upper Limb Defect-Eye And Ear Abnormalities Syndrome
Cryptorchidism, Cataract ORPHA:2489
Myotonic Dystrophy 1
Atrial flutter, Cataract, Atrial fibrillation, First degree atrioventricular block, Hypogonadism,... OMIM:160900
Cardiomyopathy, Familial Hypertrophic, 10
Sudden cardiac death, Ventricular tachycardia, Left bundle branch block, Asymmetric septal hypert... OMIM:608758
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome
Microphthalmia, Anophthalmia ORPHA:85275
Cardiomyopathy, Familial Hypertrophic, 13
Atrial fibrillation, Angina pectoris, Concentric hypertrophic cardiomyopathy, Right bundle branch... OMIM:613243
Abdominal Obesity-Metabolic Syndrome 4
Increased LDL cholesterol concentration, Decreased HDL cholesterol concentration, Hypertriglyceri... OMIM:618620
Immunodeficiency 13
Lymphopenia, Recurrent upper respiratory tract infections, Recurrent pneumonia, Bronchiectasis, D... OMIM:615518
Anterior Segment Dysgenesis 5
Hypoplasia of the fovea, Rieger anomaly, Sclerocornea, Developmental cataract, Hypoplasia of the ... OMIM:604229
Apolipoprotein C-Ii Deficiency
Hypercholesterolemia, Hypertriglyceridemia, Increased circulating chylomicron concentration, Decr... OMIM:207750
Immunodeficiency 7
Recurrent respiratory infections, Autoimmune hemolytic anemia, Splenomegaly, Severe varicella zos... OMIM:615387
Reticuloendotheliosis, X-Linked
Hepatosplenomegaly, Anemia, Lymphadenopathy OMIM:312500
Netherton Syndrome
Recurrent respiratory infections, Increased circulating IgE level, Recurrent infections, Decrease... ORPHA:634
Microphthalmia With Brain And Digit Anomalies
Anophthalmia, Cataract, Sclerocornea, Cryptorchidism, Microcornea, Microphthalmia, Abnormality of... ORPHA:139471
Thrombocytopenia 1
Increased circulating IgA level, Increased circulating IgE level, Decreased mean platelet volume,... OMIM:313900
Cardiomyopathy, Familial Hypertrophic, 26
Atrial fibrillation, Sudden cardiac death, Congestive heart failure, Permanent atrial fibrillatio... OMIM:617047
Rosaï-Dorfman Disease
Dysgammaglobulinemia, Anemia, Lymphadenopathy ORPHA:158014
Idiopathic Chronic Eosinophilic Pneumonia
Leukocytosis, Increased circulating IgE level, Hypereosinophilia ORPHA:2902
Immunodeficiency 96
Eczema, Recurrent infections, Decreased circulating total IgM, Defective T cell proliferation, Re... OMIM:619774
Eosinophilopenia
Decreased eosinophil count, Autoimmunity OMIM:131430
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1
Retinal detachment, Abnormality of retinal pigmentation, Cataract, Optic disc pallor, Microphthalmia OMIM:251270
Anterior Segment Dysgenesis 8
Iridodonesis, Cataract, Ectopia lentis, Uveal ectropion, Optic nerve dysplasia, Hypoplasia of the... OMIM:617319
Xeroderma Pigmentosum, Complementation Group G
Microphthalmia, Cataract OMIM:278780
Cholesteryl Ester Storage Disease
Hypercholesterolemia, Hypertriglyceridemia ORPHA:75234
Hypogonadotropic Hypogonadism 7 With Or Without Anosmia
Hypogonadotropic hypogonadism, Cryptorchidism, Primary amenorrhea, Infertility, Micropenis, Decre... OMIM:146110
Thrombocytopenia With Elevated Serum Iga And Renal Disease
Thrombocytopenia, Increased circulating IgA level OMIM:314000
X-Linked Agammaglobulinemia
Recurrent cutaneous abscess formation, Sinusitis, Osteomyelitis, Skin rash, Malabsorption, Thromb... ORPHA:47
Myotonic Dystrophy 2
Tachycardia, Posterior subcapsular cataract, Iridescent posterior subcapsular cataract, Oligozoos... OMIM:602668
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Cataract, Corneal opacity, Remnants of the hyaloid vascular system, Phthisis bulbi, Hyphema, Leuk... OMIM:221900
Combined Immunodeficiency Due To Partial Rag1 Deficiency
Autoimmune hemolytic anemia, Autoimmunity, Splenomegaly, Neutropenia in presence of anti-neutropi... ORPHA:231154
Autosomal Dominant Hyper-Ige Syndrome
Recurrent respiratory infections, Increased circulating IgE level, Eosinophilia, Recurrent infect... ORPHA:2314
Purine Nucleoside Phosphorylase Deficiency
Failure to thrive, Recurrent urinary tract infections, Sinusitis, Autoimmune hemolytic anemia, Im... OMIM:613179
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis
Microphthalmia, Ocular anterior segment dysgenesis, Iris coloboma, Peters anomaly OMIM:610023
Congenital Disorder Of Glycosylation, Type Iic
Neutrophilia, Pneumonia, Recurrent otitis media, Periodontitis, Reduction of neutrophil motility,... OMIM:266265
Cataract-Microcornea Syndrome
Cataract, Corneal opacity, Corneal dystrophy, Microcornea, Iris coloboma ORPHA:1377
Bundle Branch Block, Familial Isolated Complete Right
Right bundle branch block OMIM:113950
Cerebral Dysgenesis, Neuropathy, Ichthyosis, And Palmoplantar Keratoderma Syndrome
Failure to thrive, Aspiration pneumonia OMIM:609528
Immunodeficiency 110 With Lymphoproliferation
Autoimmune hemolytic anemia, Recurrent skin infections, Recurrent viral infections, Recurrent upp... OMIM:614868
Iris Pigment Layer, Cleavage Of
Cataract, Peripheral retinal detachment OMIM:147610
Lipodystrophy, Congenital Generalized, Type 3
Hypercholesterolemia, Hypertriglyceridemia, Hypocalcemia OMIM:612526
T-Cell Immunodeficiency With Thymic Aplasia
Lymphopenia, Failure to thrive, Aplasia of the thymus, Recurrent viral infections, Recurrent bron... OMIM:242700
Bronchiolitis Obliterans With Obstructive Pulmonary Disease
Pneumonia, Reduced forced expiratory volume in one second, Respiratory tract infection, Dyspnea, ... ORPHA:1303
Immunodeficiency 82 With Systemic Inflammation
Villous atrophy, Elevated circulating C-reactive protein concentration, Anorexia, Colitis, Hypoal... OMIM:619381
Microphthalmia, Isolated 6
Microcornea, Microphthalmia OMIM:613517
Arrhythmogenic Right Ventricular Dysplasia, Familial, 14
Ventricular tachycardia, Left bundle branch block, Premature ventricular contraction, Presyncope,... OMIM:618920
Microphthalmia, Isolated 1
Microphthalmia, Anophthalmia OMIM:251600
Igg4-Related Submandibular Gland Disease
Eosinophilia, Increased circulating IgG4 level, Increased circulating IgE level, Lymphadenopathy,... ORPHA:449432
Nephrotic Syndrome, Type 2
Hyperlipidemia, Hypoalbuminemia OMIM:600995
Diarrhea 7, Protein-Losing Enteropathy Type
Hypercholesterolemia, Hyperlipidemia, Hypoalbuminemia OMIM:615863
Inflammatory Skin And Bowel Disease, Neonatal, 1
Increased circulating IgE level OMIM:614328
Glycogen Storage Disease Xv
ST segment elevation, Right bundle branch block, Paroxysmal ventricular tachycardia, T-wave inver... OMIM:613507
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency
Recurrent respiratory infections, Skin rash, Partial IgA deficiency, Recurrent viral infections, ... ORPHA:35078
Hypogonadotropic Hypogonadism 14 With Or Without Anosmia
Cryptorchidism, Hypogonadotropic hypogonadism, Decreased testicular size, Primary amenorrhea OMIM:614858
Protoporphyria, Erythropoietic, 1
Hypertriglyceridemia OMIM:177000
Ectodermal Dysplasia And Immunodeficiency 1
Dysgammaglobulinemia, Reduced natural killer cell activity, Increased circulating IgA level, Seve... OMIM:300291
Coats Disease
Aplasia/Hypoplasia of the iris, Retinal detachment, Cataract, Abnormal anterior chamber morphology ORPHA:190
Myeloma, Multiple
Paraproteinemia OMIM:254500
Schnitzler Syndrome
Splenomegaly, Leukocytosis, Lymphadenopathy, Increased circulating IgM level, Anemia ORPHA:37748
Kennedy Disease
Type II diabetes mellitus, Testicular atrophy, Decreased fertility, Erectile dysfunction ORPHA:481
Brugada Syndrome 5
ST segment elevation, Bundle branch block, Ventricular fibrillation OMIM:612838
Microlissencephaly
Pneumonia ORPHA:1083
Hemophagocytic Lymphohistiocytosis, Familial, 4
Increased circulating ferritin concentration, Hypertriglyceridemia OMIM:603552
Alpha-Heavy Chain Disease
Splenomegaly, Dysgammaglobulinemia, Anemia, Lymphadenopathy ORPHA:100025
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy
Retinal detachment, Cataract, Macular atrophy, Corneal scarring, Buphthalmos, Microphthalmia, Iri... OMIM:212550
Congenital Fibrinogen Deficiency
Tachycardia, Hemorrhagic ovarian cyst, Internal hemorrhage, Developmental cataract, Microphthalmi... ORPHA:335
Anterior Segment Dysgenesis 2
Cataract, Corneal opacity, Sclerocornea, Microcornea, Posterior synechiae of the anterior chamber... OMIM:610256
Cataract 50 With Or Without Glaucoma
Retinal detachment, Cataract, Persistent pupillary membrane OMIM:620253
Leishmaniasis
Pancytopenia, Abnormal macrophage morphology, Splenomegaly, Thrombocytopenia, Lymphadenopathy, Le... ORPHA:507
Neonatal Alloimmune Neutropenia
Pneumonia, Neutropenia in presence of anti-neutropil antibodies, Sepsis ORPHA:464370
Immunodeficiency 43
Recurrent respiratory infections, Decreased specific antibody response to polysaccharide vaccine,... OMIM:241600
Wagr Syndrome
Cataract, Cryptorchidism, Aplasia/Hypoplasia of the iris, Ambiguous genitalia, Displacement of th... ORPHA:893
Immunodeficiency 40
Rectal fistula, Respiratory tract infection, Recurrent pneumonia, Chronic diarrhea, Eosinophilic ... OMIM:616433
Norrie Disease
Retinal detachment, Cataract, Corneal opacity, Optic atrophy, Leukocoria, Hypoplasia of the iris,... OMIM:310600
Urban-Rogers-Meyer Syndrome
Increased circulating IgE level ORPHA:3409
Cornea Plana 2, Autosomal Recessive
Flat cornea, Corneal opacity, Sclerocornea, Corneal arcus, Decreased corneal thickness, Microphth... OMIM:217300
Gastroesophageal Reflux
Esophageal neoplasm, Barrett esophagus, Gastroesophageal reflux, Esophagitis OMIM:109350
Ciliary Dyskinesia, Primary, 44
Neonatal respiratory distress, Reduced forced expiratory volume in one second, Reduced forced vit... OMIM:618781
Retinitis Pigmentosa
Keratoconus, Abnormality of retinal pigmentation, Hypoplasia of penis, Cataract, Hyperinsulinemia... ORPHA:791
Graft Versus Host Disease
Myositis, Fasciitis, Maculopapular exanthema, Pneumonia, Inflammatory abnormality of the skin, Ab... ORPHA:39812
2Q24 Microdeletion Syndrome
Microphthalmia, Cataract, Abnormality iris morphology ORPHA:1617
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency
Increased mitochondrial number, Diabetes mellitus, ST segment elevation, Ventricular tachycardia,... ORPHA:263297
Ciliary Dyskinesia, Primary, 25
Recurrent respiratory infections, Neonatal respiratory distress, Chronic bronchitis, Productive c... OMIM:615482
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Ileal atresia, Bloody diarrhea, Hypoplasia of the thymus, Psoriasiform dermatitis, Leukocytosis, ... OMIM:243150
Primary Biliary Cholangitis
Increased circulating IgA level, Celiac disease, Abdominal distention, Hepatitis, Gastrointestina... ORPHA:186
Bloom Syndrome
Bronchitis, Uveitis, Gastroesophageal reflux, Otitis media, Stomach cancer, Decreased circulating... ORPHA:125
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Abnormality of retinal pigmentation, Cataract, Hypergonadotropic hypogonadism, Cryptorchidism, Hy... ORPHA:3085
Mccune-Albright Syndrome
Hyperplasia of the Leydig cells, Hyperthyroidism, Macroorchidism, Elevated circulating growth hor... ORPHA:562
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia
Splenomegaly, Leukocytosis, Recurrent respiratory infections, Decreased circulating antibody level OMIM:618042
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Microcornea, Microphthalmia, Cataract, Hypogonadotropic hypogonadism ORPHA:48431
Alpha-1-Antitrypsin Deficiency
Hepatocellular carcinoma, Cough, Splenomegaly, Dyspnea, Chronic pulmonary obstruction, Wheezing, ... OMIM:613490
Omenn Syndrome
Severe B lymphocytopenia, Pneumonia, Eosinophilia, Recurrent viral infections, Splenomegaly, Thro... OMIM:603554
Oculocerebrocutaneous Syndrome
Microphthalmia, Anophthalmia, Cryptorchidism OMIM:164180
Staphylococcal Necrotizing Pneumonia
Respiratory distress, Neutrophilia, Pneumonia, Nonproductive cough, Leukocytosis, Tachypnea, Dysp... ORPHA:36238
Microphthalmia, Syndromic 16
Microphthalmia, Anophthalmia, Sclerocornea OMIM:611038
Autoinflammatory-Pancytopenia Syndrome
Membranoproliferative glomerulonephritis, Chilblains, Intestinal inflammation, Chronic diarrhea, ... OMIM:619858
Brugada Syndrome 8
Right bundle branch block, ST segment elevation, Ventricular tachycardia OMIM:613123
Scedosporiosis
Pericarditis, Sinusitis, Arthralgia/arthritis, Pneumonia, Osteomyelitis, Bronchitis, Bronchial br... ORPHA:449280
Lipodystrophy, Familial Partial, Type 4
Hypertriglyceridemia OMIM:613877
Aniridia-Absent Patella Syndrome
Aniridia, Cryptorchidism, Cataract ORPHA:1069
Muscular Hypertonia, Lethal
Respiratory distress, Pneumonia OMIM:254120
Microphthalmia, Syndromic 13
Microcornea, Microphthalmia, Iris coloboma OMIM:300915
Warburg Micro Syndrome 4
Small scrotum, Cryptorchidism, Optic atrophy, Developmental cataract, Microcornea, Microphthalmia... OMIM:615663
Ciliary Dyskinesia, Primary, 21
Neonatal respiratory distress, Atelectasis, Recurrent pneumonia, Bronchiectasis, Decreased nasal ... OMIM:615294
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency
Endometrial carcinoma, Decreased circulating cortisol level, Adrenal hyperplasia, Male pseudoherm... ORPHA:90790
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Villous atrophy, T lymphocytopenia, Infectious encephalitis, Autoimmune thrombocytopenia, Bronchi... ORPHA:391487
Ciliary Dyskinesia, Primary, 23
Neonatal respiratory distress, Chronic bronchitis, Productive cough, Recurrent pneumonia, Bronchi... OMIM:615451
Citrullinemia, Type Ii, Neonatal-Onset
Hypertyrosinemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Conjugated hyper... OMIM:605814
Pierpont Syndrome
Microcornea, Microphthalmia, Cryptorchidism ORPHA:487825
Arrhythmogenic Right Ventricular Dysplasia, Familial, 13
Ventricular tachycardia, First degree atrioventricular block, Left bundle branch block OMIM:615616
Immunodeficiency 21
Aplastic anemia, Recurrent viral infections, B lymphocytopenia, Recurrent fungal infections, Recu... OMIM:614172
Good Syndrome
Abnormal leukocyte morphology, Recurrent respiratory infections, Recurrent urinary tract infectio... ORPHA:169105
Appendicitis, Proneness To
Abnormal large intestine morphology OMIM:107700
Facioscapulohumeral Muscular Dystrophy 3, Digenic
Aspiration pneumonia OMIM:619477
Emery-Dreifuss Muscular Dystrophy 2, Autosomal Dominant
Sudden cardiac death, First degree atrioventricular block, Dilated cardiomyopathy, Syncope, Reduc... OMIM:181350
Agammaglobulinemia 9, Autosomal Recessive
Failure to thrive, Seborrheic dermatitis, Agammaglobulinemia, Recurrent bacterial infections, Abs... OMIM:619693
Ciliary Dyskinesia, Primary, 42
Pneumonia, Reduced forced vital capacity, Chronic pulmonary obstruction, Bronchiectasis, Respirat... OMIM:618695
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Colitis, Hypoalbuminemia ORPHA:88643
Hypotrichosis Simplex Of The Scalp
Increased circulating IgE level ORPHA:90368
Ciliary Dyskinesia, Primary, 33
Atelectasis, Recurrent pneumonia, Bronchiectasis, Ciliary dyskinesia, Chronic rhinitis, Cough, Re... OMIM:616726
Plin1-Related Familial Partial Lipodystrophy
Hypertriglyceridemia ORPHA:280356
Tracheobronchopathia Osteochondroplastica
Recurrent respiratory infections, Pneumonia, Bronchitis, Productive cough, Atelectasis, Wheezing,... ORPHA:3348
Vitreoretinochoroidopathy
Retinal detachment, Pulverulent cataract, Developmental cataract, Microcornea, Vitreous hemorrhag... OMIM:193220
Spermatogenic Failure 28
Male infertility, Elevated circulating luteinizing hormone level, Non-obstructive azoospermia, El... OMIM:618086
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8
Microphthalmia, Retinal dysplasia OMIM:614830
Pigmentary Disorder, Reticulate, With Systemic Manifestations, X-Linked
Increased circulating interleukin 8 concentration, Failure to thrive in infancy, Recurrent pneumo... OMIM:301220
Warburg Micro Syndrome 2
Small scrotum, Cataract, Cryptorchidism, Optic atrophy, Developmental cataract, Hypoplastic labia... OMIM:614225
Bresek Syndrome
Optic nerve hypoplasia, Cryptorchidism, Microphthalmia, Iris coloboma, Decreased testicular size ORPHA:85284
Warburg Micro Syndrome 3
Small scrotum, Cataract, Hypoplastic labia minora, Optic atrophy, Developmental cataract, Microco... OMIM:614222
Neurooculocardiogenitourinary Syndrome
Bilateral cryptorchidism, Microphthalmia, Tricuspid regurgitation, Peters anomaly OMIM:618652
Cerebrooculofacioskeletal Syndrome 2
Cataract, Small scrotum, Developmental cataract, Microphthalmia, Micropenis OMIM:610756
Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome
Cataract, Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation test, ... ORPHA:280679
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 2
Right bundle branch block OMIM:613158
Hypergonadotropic Hypogonadism-Cataract Syndrome
Cataract, Hypergonadotropic hypogonadism, Increased circulating gonadotropin level, Absence of se... ORPHA:2410
Ciliary Dyskinesia, Primary, 39
Decreased nasal nitric oxide, Bronchiectasis, Cough, Recurrent otitis media, Recurrent lower resp... OMIM:618254
Granulomatous Disease, Chronic, Autosomal Recessive, 1
Recurrent Aspergillus infections, Recurrent bacterial skin infections, Liver abscess, Recurrent S... OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2
Recurrent Aspergillus infections, Recurrent bacterial skin infections, Liver abscess, Recurrent S... OMIM:233710
Histiocytoid Cardiomyopathy
Wolff-Parkinson-White syndrome, Atrial flutter, Tachycardia, Corneal opacity, Atrial fibrillation... ORPHA:137675
Aniridia 2
Cataract, Optic atrophy, Lens subluxation, Aniridia, Iris coloboma OMIM:617141
Lcat Deficiency
Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ... ORPHA:650
Psoriasis-Related Juvenile Idiopathic Arthritis
Anterior uveitis, Psoriasiform dermatitis, Skin rash, Iridocyclitis, Oligoarthritis, Uveitis, Ent... ORPHA:85436
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Lymphopenia, Decreased proportion of CD8-positive T cells, Increased circulating IgE level, Recur... ORPHA:508533
Aromatase Deficiency
Male infertility, Macroorchidism, postpubertal, Hypergonadotropic hypogonadism, Female infertilit... ORPHA:91
Hirschsprung Disease, Susceptibility To, 1
Aganglionic megacolon, Abdominal distention, Enterocolitis, Constipation, Vomiting OMIM:142623
Ciliary Dyskinesia, Primary, 46
Reduced forced expiratory volume in one second, Reduced forced vital capacity, Recurrent pneumoni... OMIM:619436
Cardiomyopathy, Familial Hypertrophic, 2
Atrial fibrillation, Angina pectoris, Right bundle branch block, Reduced left ventricular ejectio... OMIM:115195
Ciliary Dyskinesia, Primary, 27
Recurrent respiratory infections, Neonatal respiratory distress, Bronchiectasis, Decreased nasal ... OMIM:615504
Pierpont Syndrome
Microcornea, Microphthalmia, Micropenis, Cryptorchidism OMIM:602342
Isolated Thyroid-Stimulating Hormone Deficiency
Decreased thyroid-stimulating hormone level, Decreased circulating T4 concentration, Pituitary hy... ORPHA:90674
Cardiomyopathy, Dilated, 1Ii
Increased left ventricular end-diastolic volume, Cataract, Dilated cardiomyopathy, Ventricular ta... OMIM:615184
Slc35A1-Cdg
Respiratory distress, Pneumonia, Giant platelets, Hypoxemia, Neutropenia, Abnormal platelet granu... ORPHA:238459
Avian Influenza
Respiratory distress, Nonproductive cough, Tachypnea, Sepsis, Leukopenia, Conjunctivitis, Vomitin... ORPHA:454836
Boutonneuse Fever
Cervical lymphadenopathy, Lymphadenopathy, Increased circulating IgG level, Increased circulating... ORPHA:83313
Hypogonadotropic Hypogonadism 24 With Or Without Anosmia
Elevated circulating luteinizing hormone level, Primary amenorrhea, Decreased circulating follicl... OMIM:229070
Secondary Intestinal Lymphangiectasia
Intestinal bleeding, Hypoalbuminemia, Vomiting, Constrictive pericarditis, Abdominal colic, Intes... ORPHA:90363
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2
Chronic gastritis, Increased circulating interleukin 6 concentration, Recurrent respiratory infec... OMIM:301074
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Hypoplasia of penis, Anophthalmia, Hypospadias, Sclerocornea, Cryptorchidism, Microphthalmia, Iri... ORPHA:77298
Rigid Spine Syndrome
Abnormality on pulmonary function testing, Pneumonia, Respiratory insufficiency ORPHA:97244
Complement Factor B Deficiency
Recurrent bacterial infections, Peritonitis, Pneumonia, Recurrent meningococcal disease OMIM:615561
Lipodystrophy, Familial Partial, Type 5
Hypertriglyceridemia, Increased C-peptide level OMIM:615238
Aniridia-Intellectual Disability Syndrome
Aniridia, Cataract, Optic nerve hypoplasia, Ectopia lentis ORPHA:1068
Congenital Myopathy 7B, Myosin Storage, Autosomal Recessive
Right axis deviation, Elevated jugular venous pressure, Congestive heart failure, Dilated cardiom... OMIM:255160
Mucus Inspissation Of Respiratory Tract
Recurrent respiratory infections, Atelectasis, Chronic pulmonary obstruction, Bronchiectasis, Chr... OMIM:253240
Allergic Bronchopulmonary Aspergillosis
Abnormal eosinophil morphology, Asthma, Bronchiectasis, Respiratory insufficiency, Weight loss, C... ORPHA:1164
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia
Hypothalamic gonadotropin-releasing hormone deficiency, Decreased serum testosterone concentratio... OMIM:308700
Ciliary Dyskinesia, Primary, 36, X-Linked
Recurrent respiratory infections, Neonatal respiratory distress, Bronchiectasis, Decreased nasal ... OMIM:300991
Hemophagocytic Syndrome Associated With An Infection
Pancytopenia, Invasive parasitic infection, Splenomegaly, Opportunistic bacterial infection, Inva... ORPHA:158048
Dihydropyrimidine Dehydrogenase Deficiency
Microphthalmia, Optic atrophy OMIM:274270
Granulomatous Disease, Chronic, Autosomal Recessive, 4
Recurrent Aspergillus infections, Recurrent bacterial skin infections, Liver abscess, Recurrent S... OMIM:233690
Peripartum Cardiomyopathy
Tachycardia, Diabetes mellitus, Abnormality of thyroid physiology, Right ventricular failure, Car... ORPHA:563
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11
Retinal detachment, Microphthalmia, Cataract, Optic nerve hypoplasia OMIM:615181
Coloboma, Ocular, Autosomal Dominant
Optic nerve aplasia, Corneal opacity, Remnants of the hyaloid vascular system, Optic disc colobom... OMIM:120200
Cerebrooculofacioskeletal Syndrome 3
Microphthalmia OMIM:616570
Citrullinemia, Type Ii, Adult-Onset
Elevated plasma citrulline, Hypertriglyceridemia, Hyperargininemia, Hyperammonemia OMIM:603471
Hereditary Motor And Sensory Neuropathy, Okinawa Type
Respiratory failure requiring assisted ventilation, Dyspnea, Dysphagia, Respiratory failure, Aspi... ORPHA:90117
Lipodystrophy, Familial Partial, Type 1
Hypertriglyceridemia OMIM:608600
Wolfram Syndrome 1
Cataract, Diabetes mellitus, Diabetes insipidus, Optic atrophy, Cardiomyopathy, Pigmentary retino... OMIM:222300
Pomt2-Related Limb-Girdle Muscular Dystrophy R14
Right bundle branch block, Dilated cardiomyopathy, Left ventricular systolic dysfunction ORPHA:206559
Cortical Dysplasia, Complex, With Other Brain Malformations 6
Microphthalmia, Retinal dysplasia OMIM:615771
Spinal And Bulbar Muscular Atrophy, X-Linked 1
Testicular atrophy, Decreased fertility OMIM:313200
Heme Oxygenase 1 Deficiency
Hemolytic anemia, Increased circulating interleukin 6 concentration, Asplenia, Cervical lymphaden... OMIM:614034
Mounier-Kühn Syndrome
Recurrent respiratory infections, Recurrent bronchopulmonary infections, Pneumonia, Bronchitis ORPHA:3347
Insulin Autoimmune Syndrome
Increased circulating antibody level ORPHA:411593
Inflammatory Bowel Disease 11
Hematochezia, Inflammation of the large intestine, Diarrhea, Abdominal pain OMIM:191390
Mast Cell Sarcoma
Mastocytosis, Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy ORPHA:66661
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1
Abnormal left ventricular function, Microphthalmia, Cardiomyopathy, Developmental cataract OMIM:613155
Hemochromatosis, Type 1
Diabetes mellitus, Hypogonadotropic hypogonadism, Congestive heart failure, Telangiectasia, Azoos... OMIM:235200
Hyper-Igd Syndrome
Neutrophilia, Increased circulating IgA level, Lymphadenitis, Splenomegaly, Leukocytosis, Hepatos... OMIM:260920
Premature Ovarian Failure 10
Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Primary amenorrh... OMIM:612885
Micro Syndrome
Abnormality of retinal pigmentation, Hypoplasia of penis, Cataract, Cryptorchidism, Hypoplastic l... ORPHA:2510
Microphthalmia, Isolated 8
Retinal detachment, Anophthalmia, Optic nerve hypoplasia, Retinal coloboma, Microphthalmia, True ... OMIM:615113
Secondary Short Bowel Syndrome
Abnormal small intestine morphology, Villous atrophy, Aganglionic megacolon, Small intestinal dys... ORPHA:95427
Xk Aprosencephaly Syndrome
Microphthalmia, Abnormal external genitalia ORPHA:3469
Nance-Horan Syndrome
Microcornea, Microphthalmia, Retinal detachment, Cataract ORPHA:627
Omenn Syndrome
Failure to thrive, Pneumonia, Eosinophilia, Splenomegaly, Leukocytosis, Chronic diarrhea, Sepsis,... ORPHA:39041
Unclassified Myelodysplastic Syndrome
Acute myeloid leukemia, Leukocytosis, Autoimmunity ORPHA:98827
Lissencephaly 8
Microphthalmia, Cataract, Optic atrophy OMIM:617255
Myopia, High, With Cataract And Vitreoretinal Degeneration
Retinal detachment, Cataract, Lens subluxation, Lattice retinal degeneration OMIM:614292
Tangier Disease
Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ... OMIM:205400
Leukocyte Adhesion Deficiency, Type Iii
Extramedullary hematopoiesis, Splenomegaly, Leukocytosis, Sepsis, Abnormal lymph node morphology,... OMIM:612840
Loeffler Endocarditis
Aortic regurgitation, Pericarditis, Left ventricular diastolic dysfunction, Congestive heart fail... ORPHA:75566
Lead Poisoning
Increased circulating IgE level, Imbalanced hemoglobin synthesis, Abnormal T cell morphology, Abn... ORPHA:330015
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome
Gastrointestinal hemorrhage, Abnormal large intestine morphology, Esophageal neoplasm, Weight los... ORPHA:2198
Ciliary Dyskinesia, Primary, 3
Recurrent respiratory infections, Neonatal respiratory distress, Bronchiectasis, Decreased nasal ... OMIM:608644
Hereditary Bullous Dystrophy, Macular Type
Cataract, Corneal opacity, External genital hypoplasia, Cryptorchidism, Heart murmur, Decreased t... ORPHA:1867
X-Linked Severe Congenital Neutropenia
Monocytopenia, Recurrent bacterial infections, Neutropenia ORPHA:86788
Ciliary Dyskinesia, Primary, 7
Recurrent pneumonia, Bronchiectasis, Decreased nasal nitric oxide, Restrictive ventilatory defect... OMIM:611884
Dyskeratosis Congenita, Autosomal Recessive 5
Esophageal stenosis, Colitis, Bone marrow hypocellularity, Decreased circulating antibody level OMIM:615190
Hyperlipoproteinemia, Type Id
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Decreased LDL cholesterol concentr... OMIM:615947
Microphthalmia, Isolated, With Coloboma 9
Retinal detachment, Macular coloboma, Sclerocornea, Microcornea, Microphthalmia, Ocular anterior ... OMIM:615145
Muscle Filaminopathy
Right bundle branch block, Cardiomyopathy, Left ventricular diastolic dysfunction ORPHA:171445
Trisomy 20P
Macroorchidism, Cryptorchidism, Hypospadias ORPHA:261318
Ciliary Dyskinesia, Primary, 28
Recurrent respiratory infections, Neonatal respiratory distress, Bronchiectasis, Decreased nasal ... OMIM:615505
Walker-Warburg Syndrome
Retinal detachment, Hypoplasia of penis, Anophthalmia, Corneal opacity, Cataract, Cryptorchidism,... ORPHA:899
Triokinase And Fmn Cyclase Deficiency Syndrome
Microphthalmia, Cataract, Reduced systolic function, Dilated cardiomyopathy OMIM:618805
Tetraamelia-Multiple Malformations Syndrome
Septo-optic dysplasia, Cataract, Cryptorchidism, Optic atrophy, Microcornea, Microphthalmia, Iris... ORPHA:3301
Fusariosis
Fasciitis, Sinusitis, Myositis, Abnormality of the spleen, Neutropenia, Brain abscess, Maculopapu... ORPHA:228119
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development
Retinal detachment, Cataract, Corneal opacity, Myopic astigmatism, Optic atrophy, Microcornea, As... OMIM:152950
Autoinflammation, Panniculitis, And Dermatosis Syndrome
Neutrophilia, Increased circulating IgA level, Leukocytosis, Lymphadenopathy, Increased circulati... OMIM:617099
Oculopalatocerebral Syndrome
Microphthalmia, Remnants of the hyaloid vascular system, Leukocoria OMIM:257910
Cardiomyopathy, Familial Hypertrophic, 4
Transient ischemic attack, Cardiac arrest, Sudden cardiac death, First degree atrioventricular bl... OMIM:115197
Sting-Associated Vasculopathy, Infantile-Onset
Recurrent respiratory infections, Follicular hyperplasia, Increased circulating IgA level, Paratr... OMIM:615934
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Ambiguous genitalia, Microphthalmia, Cataract ORPHA:93267
Infantile Osteopetrosis With Neuroaxonal Dysplasia
Pneumonia ORPHA:85179
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia
Hypogonadotropic hypogonadism, Cryptorchidism, Primary amenorrhea, Micropenis, Hypoplasia of the ... OMIM:614841
Multiple Benign Circumferential Skin Creases On Limbs
Small scrotum, Hypospadias, Cryptorchidism, Congestive heart failure, Microcornea, Abnormality of... ORPHA:2505
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type
Macroorchidism OMIM:309520
Exfoliation Syndrome
Cataract, Abnormal lens morphology, Anisocoria, Pseudoexfoliation, Pigment deposition in the trab... OMIM:177650
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome
Respiratory tract infection, Nonproductive cough, Dyspnea, Chronic pulmonary obstruction, Hyperse... ORPHA:79127
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia
Hypogonadotropic hypogonadism, Cryptorchidism, Primary amenorrhea, Absence of pubertal developmen... OMIM:614837
Brucellosis
Liver abscess, Bronchitis, Knee osteoarthritis, Increased circulating IgG level, Leukopenia, Vomi... ORPHA:1304
Riddle Syndrome
Pneumonia, Bronchitis, Recurrent viral infections, Neonatal asphyxia, Diarrhea, Recurrent pneumon... ORPHA:420741
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige
Recurrent respiratory infections, Increased circulating IgE level OMIM:615508
46,Xy Sex Reversal 10
Bifid scrotum, Small scrotum, Hypospadias, Ovotestis, Testicular dysgenesis, Perineal hypospadias... OMIM:616425
Ciliary Dyskinesia, Primary, 24
Neonatal respiratory distress, Chronic pulmonary obstruction, Bronchiectasis, Decreased nasal nit... OMIM:615481
Congenital Rubella Syndrome
Abnormality of retinal pigmentation, Cataract, Corneal opacity, Aplasia/Hypoplasia of the iris, T... ORPHA:290
Pulmonary Alveolar Proteinosis, Acquired
Recurrent respiratory infections, Brain abscess, Lung abscess, Pneumonia, Dyspnea, Intraalveolar ... OMIM:610910
Hemosiderosis, Pulmonary, With Deficiency Of Gamma-A Globulin
Decreased circulating IgA level OMIM:235500
Stickler Syndrome Type 2
Retinal detachment, Cataract, Corneal opacity ORPHA:90654
Diarrhea 12, With Microvillus Atrophy
Villous atrophy, Microvillus inclusions, Respiratory tract infection, Secretory diarrhea, Bronchi... OMIM:619445
Primary Intestinal Lymphangiectasia
Increased stool alpha1-antitrypsin concentration, Abdominal pain, Cryptococcal meningitis, Chroni... ORPHA:90362
Ciliary Dyskinesia, Primary, 14
Recurrent respiratory infections, Neonatal respiratory distress, Chronic bronchitis, Cough, Wheez... OMIM:613807
Combined Oxidative Phosphorylation Deficiency 51
Neonatal respiratory distress, Respiratory failure, Small for gestational age, Aspiration pneumonia OMIM:619057
Cardiomyopathy-Cataract-Hip Spine Disease Syndrome
Cataract, Pulmonary embolism, Congestive heart failure, Hypertension, Hypertrophic cardiomyopathy... ORPHA:1345
Atrial Septal Defect, Ostium Secundum Type
Bundle branch block, Atrial flutter, Tricuspid regurgitation, Left-to-right shunt, Atrial fibrill... ORPHA:99103
Trisomy 13
Anophthalmia, Cataract, Displacement of the urethral meatus, Cryptorchidism, Optic atrophy, Aplas... ORPHA:3378
Idiopathic Pulmonary Fibrosis
Crackles, Abnormal pulmonary interstitial morphology, Bronchiectasis, Honeycomb lung, Gastroesoph... ORPHA:2032
Hypogonadotropic Hypogonadism 22 With Or Without Anosmia
Reduced response to gonadotropin-releasing hormone stimulation test, Cryptorchidism, Primary amen... OMIM:616030
Kallmann Syndrome With Spastic Paraplegia
Hypothalamic gonadotropin-releasing hormone deficiency, Hypogonadotropic hypogonadism, Cryptorchi... OMIM:308750
Bacterial Toxic-Shock Syndrome
Respiratory distress, Myositis, Sinusitis, Fasciitis, Tachypnea, Sepsis, Increased circulating my... ORPHA:36234
Hyperlipoproteinemia, Type I
Hypercholesterolemia, Hyperlipidemia, Lactescent serum, Increased circulating chylomicron concent... OMIM:238600
Scapuloperoneal Myopathy, X-Linked Dominant
Right bundle branch block OMIM:300695
Osteoporosis-Pseudoglioma Syndrome
Retinal detachment, Microphthalmia, Corneal opacity, Isosexual precocious puberty ORPHA:2788
Combined Immunodeficiency Due To Crac Channel Dysfunction
Hemolytic anemia, Pneumonia, Recurrent viral infections, Recurrent mycobacterial infections, Sple... ORPHA:169090
Melioidosis
Foot osteomyelitis, Brain abscess, Liver abscess, Lung abscess, Pneumonia, Respiratory tract infe... ORPHA:31202
Abdominal Obesity-Metabolic Syndrome 3
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia OMIM:615812
Ciliary Dyskinesia, Primary, 11
Recurrent respiratory infections, Neonatal respiratory distress, Chronic bronchitis, Bronchiectas... OMIM:612649
Surfactant Metabolism Dysfunction, Pulmonary, 2
Respiratory distress, Reduced forced vital capacity, Tachypnea, Cough, Decreased DLCO, Bronchiect... OMIM:610913
Autoinflammatory Disease, Systemic, X-Linked
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... OMIM:301081
O'Sullivan-Mcleod Syndrome
Increased circulating antibody level, Eosinophilia ORPHA:99965
Craniotelencephalic Dysplasia
Microphthalmia, Septo-optic dysplasia, Optic atrophy ORPHA:1528
Central Precocious Puberty In Male
Abnormal response to gonadotropin-releasing hormone stimulation test, Pituitary microadenoma, Abn... ORPHA:649929
X-Linked Centronuclear Myopathy
Respiratory distress, Recurrent respiratory infections, Respiratory failure requiring assisted ve... ORPHA:596
Familial Mediterranean Fever
Pericarditis, Elevated circulating C-reactive protein concentration, Abdominal pain, Orchitis, Di... OMIM:249100
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Hypertyrosinemia, Decreased HDL cholesterol concentration, Abnormal circulating lipid concentrati... ORPHA:247598
Ciliary Dyskinesia, Primary, 26
Recurrent respiratory infections, Neonatal respiratory distress, Bronchiectasis, Decreased nasal ... OMIM:615500
Ectopia Lentis Et Pupillae
Retinal detachment, Cataract, Ectopia lentis, Iris transillumination defect, Ectopia pupillae, Pe... OMIM:225200
49,Xyyyy Syndrome
External genital hypoplasia, Abnormality of the testis size, Increased circulating gonadotropin l... ORPHA:99330
Pseudomyxoma Peritonei
Nausea and vomiting, Intestinal obstruction, Abdominal pain, Inflammation of the large intestine,... ORPHA:26790
Rere-Related Neurodevelopmental Syndrome
Hypospadias, Cryptorchidism, Optic atrophy, Astigmatism, Peters anomaly, Microphthalmia, Iris col... ORPHA:494344
Proteasome-Associated Autoinflammatory Syndrome 3
Splenomegaly, Thrombocytopenia, Recurrent infections, Lymphadenopathy, Increased circulating anti... OMIM:617591
Retinitis Pigmentosa 84
Macular atrophy, Bone spicule pigmentation of the retina, Cataract, Macular coloboma OMIM:618220
Ciliary Dyskinesia, Primary, 32
Recurrent respiratory infections, Neonatal respiratory distress, Chronic pulmonary obstruction, B... OMIM:616481
Rajab Interstitial Lung Disease With Brain Calcifications 2
Hypertriglyceridemia, Hypoalbuminemia OMIM:619013
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Retinal detachment, Microphthalmia, Cataract, Corneal opacity OMIM:613153
49,Xxxyy Syndrome
Decreased serum testosterone concentration, External genital hypoplasia, Abnormality of the testi... ORPHA:261534
Erythema Elevatum Diutinum
Increased circulating antibody level ORPHA:90000
Familial Exudative Vitreoretinopathy
Macular telangiectasia, Cataract, Rhegmatogenous retinal detachment, Vitreous hemorrhage, Abnorma... ORPHA:891
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Aplasia/Hypoplasia of the iris, Cataract, Corneal opacity, Persistent pupillary membrane ORPHA:1067
Pyoderma Gangrenosum
Myositis, Pustule, Inflammation of the large intestine, Increased circulating antibody level, Rhe... ORPHA:48104
Lipodystrophy, Familial Partial, Type 3
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Hyperuricemia OMIM:604367
Hemophagocytic Lymphohistiocytosis, Familial, 1
Hyponatremia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Increased VLDL chole... OMIM:267700
Kapur-Toriello Syndrome
Cataract, Cryptorchidism, Hypoplastic labia majora, Retinal coloboma, Microphthalmia, Micropenis,... OMIM:244300
Developmental Delay With Variable Neurologic And Brain Abnormalities
Microphthalmia, Astigmatism, Cataract OMIM:619694
Idiopathic Steroid-Resistant Nephrotic Syndrome
Hypercholesterolemia, Abnormal circulating lipid concentration, Hypoalbuminemia, Hypertriglycerid... ORPHA:567548
Shigellosis
Intestinal perforation, Sepsis, Uveitis, Bloody diarrhea, Paralytic ileus, Conjunctivitis, Vomiti... ORPHA:810
Joubert Syndrome 37
Microphthalmia, Micropenis, Decreased testicular size, Cryptorchidism OMIM:619185
Adams-Oliver Syndrome 4
Microphthalmia OMIM:615297
Shwachman-Diamond Syndrome
Normocytic anemia, Sinusitis, Aplastic anemia, Transient neutropenia, Recurrent viral infections,... ORPHA:811
Hypogonadotropic Hypogonadism 16 With Or Without Anosmia
Cryptorchidism, Primary amenorrhea, Decreased circulating luteinizing hormone level, Decreased ci... OMIM:614897
Temple Syndrome
Hypercholesterolemia, Hypertriglyceridemia OMIM:616222
Atrial Septal Defect, Ostium Primum Type
Atrial flutter, Tricuspid regurgitation, Abnormally loud pulmonic component of the second heart s... ORPHA:99106
Junctional Epidermolysis Bullosa Inversa
Gastrointestinal inflammation ORPHA:79405
Chilblain Lupus
Increased circulating antibody level, Chronic myelomonocytic leukemia ORPHA:90280
Pulmonary Hypertension, Primary, 4
Atrial flutter, Pulmonary arterial hypertension with lack of acute response to NO challenge, Firs... OMIM:615344
Naxos Disease
Right ventricular cardiomyopathy, Prolonged QRS complex, Sudden cardiac death, Congestive heart f... OMIM:601214
Myopia 28, Autosomal Recessive
Retinal detachment, Cataract OMIM:619781
T-Cell Lymphoma, Subcutaneous Panniculitis-Like
Increased circulating ferritin concentration, Hypertriglyceridemia OMIM:618398
Cyclic Neutropenia
Cyclic neutropenia, Perianal abscess, Cervical lymphadenopathy, Recurrent tonsillitis, Severe inf... ORPHA:2686
Microsporidiosis
Myositis, Sinusitis, Cholangitis, Bronchitis, Lymphadenitis, Abnormality of the spleen, Sepsis, V... ORPHA:2552
Arrhinia-Choanal Atresia-Microphthalmia Syndrome
Microphthalmia, Hypogonadotropic hypogonadism ORPHA:1135
Oculoauricular Syndrome
Retinal detachment, Cataract, Sclerocornea, Phthisis bulbi, Developmental cataract, Microcornea, ... OMIM:612109
Carney Complex
Thyroid carcinoma, Papillary thyroid carcinoma, Leydig cell neoplasia, Ovarian serous cystadenoma... ORPHA:1359
Blindness-Scoliosis-Arachnodactyly Syndrome
Retinal detachment, Abnormality of retinal pigmentation, Cataract, Lens subluxation, Microphakia ORPHA:171844
Smith-Magenis Syndrome
Hypercholesterolemia, Hypertriglyceridemia OMIM:182290
Congenital-Onset Steinert Myotonic Dystrophy
Bundle branch block, Cataract, First degree atrioventricular block ORPHA:589821
Severe Neurodegenerative Syndrome With Lipodystrophy
Hypertriglyceridemia ORPHA:363400
Esophagitis, Eosinophilic, 2
Vomiting, Esophagitis, Dysphagia OMIM:613412
Esophagitis, Eosinophilic, 1
Vomiting, Esophagitis, Dysphagia OMIM:610247
Idiopathic Uveal Effusion Syndrome
Microphthalmia, Abnormal anterior eye segment morphology, Exudative retinal detachment ORPHA:209956
Immunodeficiency 31C
Impaired lymphocyte transformation with phytohemagglutinin, Recurrent respiratory infections, Vil... OMIM:614162
Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract
Aniridia, Microcornea, Cataract OMIM:106230
Infant Acute Respiratory Distress Syndrome
Pneumonia, Respiratory tract infection, Atelectasis, Nasal flaring, Tachypnea, Sepsis, Hypoxemia,... ORPHA:70587
Trichothiodystrophy 3, Photosensitive
Bilateral cryptorchidism, Microphthalmia, Cataract, Developmental cataract OMIM:616395
Ciliary Dyskinesia, Primary, 12
Recurrent respiratory infections, Neonatal respiratory distress, Chronic pulmonary obstruction, B... OMIM:612650
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Increased circulating ferritin concentration, Hypertriglyceridemia, Hyperbilirubinemia, Elevated ... ORPHA:158057
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies
Recurrent viral infections, Gastroesophageal reflux, Recurrent aspiration pneumonia, Neonatal res... ORPHA:221139
Igg4-Related Kidney Disease
Eosinophilia, Increased circulating IgG4 level, Lymphadenitis, Increased circulating IgE level, L... ORPHA:449395
Autoimmune Hepatitis
Gastrointestinal hemorrhage, Viral hepatitis, Glomerulonephritis, Abdominal pain, Fulminant hepat... ORPHA:2137
Ebstein Anomaly
Atrial fibrillation, Sudden cardiac death, Atrial standstill, Ventricular preexcitation, Right bu... OMIM:224700
Bronchogenic Cyst
Pulmonary cyst, Pneumonia, Abnormal pleura morphology, Abnormal stomach morphology, Atelectasis, ... ORPHA:2357
Ciliary Dyskinesia, Primary, 5
Recurrent respiratory infections, Neonatal respiratory distress, Chronic bronchitis, Recurrent pn... OMIM:608647
Spondylo-Ocular Syndrome
Retinal detachment, Cataract, Aplasia/Hypoplasia of the lens, Microphthalmia, Iris hypopigmentation ORPHA:85194
Cat-Eye Syndrome
Microphthalmia, Iris coloboma ORPHA:195
Late-Onset Junctional Epidermolysis Bullosa
Gastrointestinal inflammation ORPHA:79406
Q Fever
Respiratory distress, Pericarditis, Osteomyelitis, Maculopapular exanthema, Pneumonia, Myocarditi... ORPHA:781
Aapoaiv Amyloidosis
Atrial flutter, Diabetes mellitus, Abnormal cardiac ventricular function, Atrial fibrillation, Ca... ORPHA:439232
Citrullinemia Type Ii
Decreased HDL cholesterol concentration, Acute hyperammonemia, Hypertriglyceridemia, Hyperlipidem... ORPHA:247585
Seckel Syndrome 2
Microphthalmia, Hypospadias, Heart murmur OMIM:606744
Facial Clefting, Oblique, 1
Microphthalmia OMIM:600251
Isolated Aniridia
Aniridia, Cataract, Aplasia/Hypoplasia of the macula, Peters anomaly ORPHA:250923
Linear Skin Defects With Multiple Congenital Anomalies 1
Cataract, Hypospadias, Sclerocornea, Ovotestis, Junctional ectopic tachycardia, Hypoplasia of the... OMIM:309801
C3 Glomerulopathy
Recurrent infections, Paraproteinemia, Decreased circulating complement C3 concentration, Decreas... ORPHA:329918
Cerebrooculofacioskeletal Syndrome 1
Microphthalmia, Cataract, Cryptorchidism OMIM:214150
Prolidase Deficiency
Splenomegaly, Thrombocytopenia, Recurrent pneumonia, Recurrent infections, Increased circulating ... OMIM:170100
Hereditary Pulmonary Alveolar Proteinosis
Respiratory distress, Respiratory failure requiring assisted ventilation, Crazy paving pattern, F... ORPHA:264675
Ataxia With Vitamin E Deficiency
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia, Xanthelasma OMIM:277460
Mitochondrial Complex I Deficiency, Nuclear Type 33
Apnea, Small for gestational age, Bronchiectasis, Dysphagia, Respiratory insufficiency, Aspiratio... OMIM:618253
Ciliary Dyskinesia, Primary, 15
Recurrent respiratory infections, Neonatal respiratory distress, Chronic bronchitis, Wheezing, Re... OMIM:613808
Neurodevelopmental Disorder With Epilepsy And Brain Atrophy
Intermittent diarrhea, Gastroesophageal reflux, Recurrent aspiration pneumonia OMIM:619971
Self-Improving Dystrophic Epidermolysis Bullosa
Gastrointestinal inflammation ORPHA:79411
Immunodeficiency 10
Autoimmune hemolytic anemia, Recurrent infections, Lymphadenopathy, Recurrent bacterial infection... OMIM:612783
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome
Anophthalmia, Hypospadias, Cataract, Sclerocornea, Precocious puberty, Microcornea, Ectopia pupil... OMIM:615877
Primary Ciliary Dyskinesia
Recurrent sinopulmonary infections, Neonatal respiratory distress, Intestinal malrotation, Pulmon... ORPHA:244
Sick Sinus Syndrome 4
Sinoatrial block, Chronotropic incompetence, Abnormal QT interval, Paroxysmal atrial fibrillation... OMIM:619464
Akt2-Related Familial Partial Lipodystrophy
Hypertriglyceridemia ORPHA:79085
Craniotelencephalic Dysplasia
Microphthalmia, Optic nerve hypoplasia OMIM:218670
Microphthalmia, Isolated, With Corectopia
Microphthalmia, Ectopia pupillae OMIM:156900
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome
Hypoplasia of penis, Anophthalmia, Cataract, External genital hypoplasia, Cryptorchidism, Hypogon... ORPHA:2250
Mirage Syndrome
Recurrent urinary tract infections, Thrombocytopenia, Esophageal stricture, Chronic diarrhea, Sep... OMIM:617053
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Hyperlipidemia ORPHA:329249
Vitreoretinal Degeneration, Snowflake Type
Retinal detachment, Snowflake vitreoretinal degeneration, Cataract, Corneal guttata OMIM:193230
Matthew-Wood Syndrome
Anophthalmia, Cryptorchidism, Aplasia/Hypoplasia of the pancreas, Abnormality of the uterus, Micr... ORPHA:2470
Congenital Muscular Dystrophy With Cerebellar Involvement
Retinal detachment, Cataract, Optic nerve hypoplasia, Optic atrophy, Abnormality iris morphology,... ORPHA:370959
Tropical Endomyocardial Fibrosis
Prolonged QRS complex, Restrictive cardiomyopathy, Atrioventricular block, Left bundle branch blo... ORPHA:75565
Oculopharyngodistal Myopathy
Oral-pharyngeal dysphagia, Respiratory insufficiency due to muscle weakness, High, narrow palate,... ORPHA:98897
Interstitial Lung Disease 2
Increased circulating antibody level OMIM:178500
Interstitial Lung Disease 1
Nonspecific interstitial pneumonia, Crackles, Intralobular septal thickening, Cough, Dyspnea, Res... OMIM:619611
Otodental Syndrome
Cataract, Lens coloboma, Microcornea, Retinal coloboma, Microphthalmia, Iris coloboma ORPHA:2791
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Respiratory insufficiency due to muscle weakness, Hepatosplenomegaly, Respiratory failure, Dyspha... ORPHA:2590
Ciliary Dyskinesia, Primary, 17
Recurrent respiratory infections, Bronchiectasis, Chronic rhinitis, Cough, Recurrent otitis media... OMIM:614679
Baraitser-Winter Syndrome 1
Cryptorchidism, Aortic valve stenosis, Microphthalmia, Micropenis, Iris coloboma OMIM:243310
Refsum Disease
Abnormality of retinal pigmentation, Cataract, Heart block, Cardiomyopathy, Microphthalmia ORPHA:773
Meckel Syndrome, Type 8
Ambiguous genitalia, Microphthalmia, Anophthalmia OMIM:613885
8Q21.11 Microdeletion Syndrome
Hypoplasia of penis, Cataract, Corneal opacity, Sclerocornea, Cryptorchidism, Microphthalmia, Iri... ORPHA:284160
Chylomicron Retention Disease
Hypertriglyceridemia, Steatorrhea, Hypocholesterolemia ORPHA:71
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation
Sinoatrial block, Atrial flutter, Atrial fibrillation, Sudden cardiac death, Cardiac conduction a... ORPHA:300751
Chronic Myeloid Leukemia
Splenomegaly, Leukocytosis, Abnormal granulocyte morphology, Myeloproliferative disorder, Thrombo... ORPHA:521
Ciliary Dyskinesia, Primary, 34
Neonatal respiratory distress, Reduced respiratory ciliary beating frequency, Bronchiectasis, Dec... OMIM:617091
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome
Microphthalmia, Small scrotum, Hypogonadism, Cryptorchidism ORPHA:228390
Ciliary Dyskinesia, Primary, 35
Neonatal respiratory distress, Productive cough, Recurrent pneumonia, Bronchiectasis, Decreased n... OMIM:617092
Autoinflammation With Arthritis And Dyskeratosis
Autoimmune hemolytic anemia, Increased circulating IgA level, Splenomegaly, Hypereosinophilia, In... OMIM:617388
Complete Atrioventricular Septal Defect
Abnormal EKG, Tachycardia, Left-to-right shunt, Right ventricular failure, Third heart sound, Con... ORPHA:1329
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia
Skin rash, Elevated circulating C-reactive protein concentration, Recurrent pneumonia, Recurrent ... OMIM:617718
Exudative Vitreoretinopathy 2, X-Linked
Retinal detachment, Microphthalmia, Shallow anterior chamber, Retinal neovascularization OMIM:305390
Ciliary Dyskinesia, Primary, 30
Recurrent respiratory infections, Cough, Asthma, Bronchiectasis, Respiratory insufficiency, Decre... OMIM:616037
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency
Hyperlipidemia, Hyperuricemia ORPHA:364
Ectodermal Dysplasia And Immunodeficiency 2
Recurrent respiratory infections, Splenomegaly, Defective production of NFKB1-dependent cytokines... OMIM:612132
Isolated Right Ventricular Hypoplasia
Tricuspid regurgitation, Abnormal atrioventricular conduction, Right ventricular failure, Congest... ORPHA:439
Microphthalmia, Lenz Type
Cataract, Hypospadias, Cryptorchidism, Optic disc coloboma, Microcornea, Microphthalmia, Iris col... ORPHA:568
Chromosome Xp11.3 Deletion Syndrome
Cataract, Cryptorchidism, Posterior subcapsular cataract, Optic atrophy, Pigmentary retinopathy OMIM:300578
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia ORPHA:209902
Angiostrongyliasis
Increased circulating IgA level, Unusual CNS infection, Hypereosinophilia, Increased circulating ... ORPHA:74
Granulomatous Disease, Chronic, X-Linked
Recurrent Aspergillus infections, Recurrent bacterial skin infections, Liver abscess, Recurrent S... OMIM:306400
Fryns Microphthalmia Syndrome
Microphthalmia, Anophthalmia OMIM:600776
Sarcoidosis, Susceptibility To, 2
Erythema nodosum, Splenomegaly, Dyspnea, Pneumothorax, Bronchiectasis, Uveitis, Abnormal pulmonar... OMIM:612387
Linear Skin Defects With Multiple Congenital Anomalies 2
Microphthalmia, Optic disc pallor, Pulmonary arterial hypertension OMIM:300887
Bartsocas-Papas Syndrome 2
Corneal opacity, Antecubital pterygium, Popliteal pterygium, Microphthalmia, Axillary pterygium OMIM:619339
Dyskeratosis Congenita, Digenic
Decreased testicular size, Recurrent infections, Decreased circulating total IgM, Gastroesophagea... OMIM:620040
Temtamy Syndrome
Aortic regurgitation, Ectopia lentis, Lens luxation, Microphthalmia, Iris coloboma OMIM:218340
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1
Retinal detachment, Cataract, Corneal opacity, Optic nerve hypoplasia, Retinal atrophy, Peters an... OMIM:236670
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome
Failure to thrive, Psoriasiform dermatitis, Severe B lymphocytopenia, Recurrent viral infections,... ORPHA:293978
Cerebellar Ataxia, Brain Abnormalities, And Cardiac Conduction Defects
Tricuspid regurgitation, Optic atrophy, Right bundle branch block, Mitral regurgitation, Astigmatism OMIM:619576
Developmental And Epileptic Encephalopathy 1
Microphthalmia, Micropenis OMIM:308350
Microphthalmia-Microtia-Fetal Akinesia Syndrome
Microphthalmia, Hypoplasia of penis ORPHA:2547
Ciliary Dyskinesia, Primary, 1
Pneumonia, Asplenia, Atelectasis, Bronchiectasis, Immotile cilia, Chronic rhinitis, Chronic otiti... OMIM:244400
Kapur-Toriello Syndrome
Hypoplasia of penis, Hypoplastic labia majora, Retinal coloboma, Microphthalmia, Iris coloboma ORPHA:2328
Dysbetalipoproteinemia
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Increased LDL cholesterol concentr... ORPHA:412
Xeroderma Pigmentosum, Complementation Group B
Cataract, Optic atrophy, Pigmentary retinopathy, Hypogonadism, Microphthalmia OMIM:610651
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism
Cataract, Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation test, ... OMIM:300845
Atrial Septal Defect, Coronary Sinus Type
Bundle branch block, Left-to-right shunt, Abnormally loud pulmonic component of the second heart ... ORPHA:99104
Microphthalmia, Syndromic 11
Microphthalmia, Agenesis of pineal gland OMIM:614402
Caffey Disease
Increased circulating antibody level ORPHA:1310
Congenital Tracheomalacia
Apnea, Tracheobronchomalacia, Gastroesophageal reflux, Cough, Emphysema, Neonatal respiratory dis... ORPHA:95430
Martsolf Syndrome 1
Cataract, Hypogonadotropic hypogonadism, Cardiac arrest, Cryptorchidism, Congestive heart failure... OMIM:212720
Pierson Syndrome
Retinal detachment, Rieger anomaly, Hypoplasia of the ciliary body, Cataract, Remnants of the hya... OMIM:609049
Proteus Syndrome
Abnormality of retinal pigmentation, Thymus hyperplasia, Cataract, Central heterochromia, Testicu... ORPHA:744
Immunodeficiency 77
Gastroparesis, Chronic pulmonary obstruction, Recurrent tonsillitis, Bronchiectasis, Cutaneous ab... OMIM:619223
Subacute Inflammatory Demyelinating Polyneuropathy
Leukocytosis, Increased circulating IgG level, Severe infection ORPHA:206594
Reese Retinal Dysplasia
Remnants of the hyaloid vascular system, Retinal dysplasia OMIM:266400
Glycogen Storage Disease Ixc
Hypertriglyceridemia OMIM:613027
Cholesteryl Ester Storage Disease
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Increased LDL cholesterol concentr... OMIM:278000
Linear Skin Defects With Multiple Congenital Anomalies 3
Cardiac arrest, Sclerocornea, Thyroid C cell hyperplasia, Dilated cardiomyopathy, Ventricular tac... OMIM:300952
Hydrolethalus
Cryptorchidism, Microphthalmia, Anophthalmia, Abnormal fallopian tube morphology ORPHA:2189
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull
Testicular atrophy OMIM:601163
Drug Reaction With Eosinophilia And Systemic Symptoms
Skin rash, Eosinophilia, Pustule, Myocarditis, Cough, Dyspnea, Hepatitis, Thyroiditis, Weight los... ORPHA:139402
Igg4-Related Ophthalmic Disease
Increased circulating IgE level, Eosinophilia, Increased circulating IgG4 level, Lymphadenopathy ORPHA:449563
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type
Microphthalmia, Small scrotum, Heart murmur, Cryptorchidism ORPHA:2728
Chromosome 8Q21.11 Deletion Syndrome
Cataract, Sclerocornea, Cryptorchidism, Pigmentary retinopathy, Microphthalmia, Micropenis OMIM:614230
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12
Microphthalmia, Cataract, Retinal degeneration, Abnormally large globe OMIM:615249
Temtamy Syndrome
Microphthalmia, Iris coloboma ORPHA:1777
Congenital Toxoplasmosis
Microphthalmia, Abnormality of retinal pigmentation ORPHA:858
Fabry Disease
Conjunctival telangiectasia, Bundle branch block, Cataract, Corneal opacity, Corneal dystrophy, A... ORPHA:324
Joubert Syndrome 22
Microphthalmia, Retinal dysplasia OMIM:615665
Noonan Syndrome With Multiple Lentigines
Bundle branch block, Hypospadias, Myocardial infarction, Cryptorchidism, Decreased fertility, Hyp... ORPHA:500
Ciliary Dyskinesia, Primary, 22
Recurrent respiratory infections, Neonatal respiratory distress, Bronchiectasis, Decreased nasal ... OMIM:615444
Microphthalmia, Syndromic 3
Optic nerve aplasia, Anophthalmia, Hypogonadotropic hypogonadism, Optic nerve hypoplasia, Anterio... OMIM:206900
Morning Glory Disc Anomaly
Retinal detachment, Cataract, Abnormality of retinal pigmentation, Optic disc coloboma ORPHA:35737
Trichinellosis
Increased circulating IgE level, Meningitis ORPHA:863
Congenital Generalized Lipodystrophy
Hypercholesterolemia, Hypertriglyceridemia, Increased C-peptide level ORPHA:528
Bare Lymphocyte Syndrome, Type I
Bronchiectasis, Bronchiolitis, Emphysema, Chronic sinusitis, Chronic otitis media, Recurrent bron... OMIM:604571
Moebius Syndrome
Microphthalmia, Micropenis, Hypogonadotropic hypogonadism, Decreased testicular size OMIM:157900
Ectodermal Dysplasia-Blindness Syndrome
Cataract, Corneal dystrophy, Sclerocornea, Microcornea, Keratoconjunctivitis sicca, Microphthalmia ORPHA:1806
Hemorrhagic Fever-Renal Syndrome
Respiratory distress, Increased circulating interleukin 6 concentration, Acute tubulointerstitial... ORPHA:340
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Brain abscess, Neutrophilia, Liver abscess, Abnormality of the lymphatic system, Abnormal lymph n... ORPHA:54251
Immunodeficiency 65, Susceptibility To Viral Infections
Stomatitis, Bronchiectasis, Recurrent gastroenteritis, Recurrent viral infections OMIM:618648
Ciliary Dyskinesia, Primary, 19
Recurrent respiratory infections, Bronchiectasis, Immotile cilia, Rhinitis, Respiratory insuffici... OMIM:614935
Pelvis-Shoulder Dysplasia
Microphthalmia, Optic disc coloboma, Iris coloboma, Opacification of the corneal stroma OMIM:169550
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea
Crackles, Atelectasis, Leukocytosis, Chronic diarrhea, Dyspnea, Bronchiectasis, Asthma, Wheezing,... OMIM:620233
Aicardi-Goutieres Syndrome 7
Hemolytic anemia, Atrophic gastritis, Pancytopenia, Skin rash, Chilblains, Pneumonia, Hematemesis... OMIM:615846
Oculogastrointestinal Neurodevelopmental Syndrome
Vaginal fistula, Bilateral microphthalmos, Unilateral microphthalmos OMIM:619318
46,Xy Partial Gonadal Dysgenesis
Hypoplasia of the vagina, Hypoplasia of penis, Vanishing testis, Decreased serum estradiol, Micro... ORPHA:251510
Fanconi Anemia, Complementation Group G
Microphthalmia OMIM:614082
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
Increased LDL cholesterol concentration, Hypertriglyceridemia, Elevated circulating creatine kina... ORPHA:98855
Recessive Dystrophic Epidermolysis Bullosa Inversa
Esophageal stricture, Gastrointestinal inflammation ORPHA:79409
Focal Segmental Glomerulosclerosis 1
Hyperlipidemia, Hypoalbuminemia OMIM:603278
X-Linked Alport Syndrome-Diffuse Leiomyomatosis
Recurrent respiratory infections, Tracheobronchial leiomyomatosis, Esophageal stenosis, Hypoperis... ORPHA:1018
Familial Nasal Acilia
Respiratory distress, Dyspnea, Atelectasis, Recurrent upper respiratory tract infections, Bronchi... ORPHA:922
Severe Acute Respiratory Syndrome
Respiratory distress, Respiratory failure requiring assisted ventilation, Dyspnea, Acute infectio... ORPHA:140896
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 2
Right bundle branch block OMIM:616479
Alpha-Mannosidosis, Adult Form
Pancytopenia, Pneumonia, Hepatosplenomegaly, Recurrent infections, Macroglossia, Recurrent gastro... ORPHA:309288
Nocardiosis
Respiratory distress, Liver abscess, Lymphadenitis, Nonproductive cough, Sepsis, Conjunctivitis, ... ORPHA:31204
Zygomycosis
Fasciitis, Sinusitis, Acute infectious pneumonia, Unusual gastrointestinal infection, Colitis, Vo... ORPHA:73263
Leukocyte Adhesion Deficiency
Sinusitis, Severe periodontitis, Recurrent staphylococcal infections, Sepsis, Conjunctivitis, Oti... ORPHA:2968
Ataxia-Telangiectasia
Lymphopenia, Failure to thrive, Sinusitis, Decreased circulating IgG2 level, Chronic diarrhea, Br... OMIM:208900
Congenital Disorder Of Glycosylation, Type Iq
Microphthalmia, Cataract, Optic atrophy OMIM:612379
Frontofacionasal Dysplasia
Cataract, Brushfield spots, Microcornea, Limbal dermoid, Microphthalmia, Iris coloboma ORPHA:1791
Cholestasis-Lymphedema Syndrome
Conjugated hyperbilirubinemia, Hyperlipidemia OMIM:214900
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome
Hypertriglyceridemia OMIM:615381
Reni Syndrome
Hypertriglyceridemia, Hypoalbuminemia OMIM:617575
Lipe-Related Familial Partial Lipodystrophy
Hypertriglyceridemia, Elevated circulating creatine kinase concentration ORPHA:435660
Smith-Magenis Syndrome
Hypercholesterolemia, Hypertriglyceridemia ORPHA:819
Cidec-Related Familial Partial Lipodystrophy
Hypertriglyceridemia ORPHA:435651
Nijmegen Breakage Syndrome
Anal stenosis, Recurrent urinary tract infections, Sinusitis, Recurrent bronchitis, Dysgammaglobu... OMIM:251260
Congenital Tufting Enteropathy
Villous atrophy, Abnormal small intestinal mucosa morphology, Elevated fecal osmolality, Malabsor... ORPHA:92050
Subcorneal Pustular Dermatosis
Increased circulating antibody level, Autoimmunity, Rheumatoid arthritis, Systemic lupus erythema... ORPHA:48377
Encephalocraniocutaneous Lipomatosis
Sclerocornea, Cryptorchidism, Hypoplasia of the iris, Limbal dermoid, Microphthalmia OMIM:613001
Cleft Velum
Cleft soft palate, Oral-pharyngeal dysphagia, Velopharyngeal insufficiency, Aspiration pneumonia,... ORPHA:99772
Cataract 47
Microcornea, Cataract OMIM:612018
Symptomatic Form Of Hfe-Related Hemochromatosis
Elevated jugular venous pressure, Diabetes mellitus, Hypogonadotropic hypogonadism, Portal hypert... ORPHA:465508
Iga Pemphigus
Eosinophilia, Cutaneous abscess, Monoclonal elevation of circulating IgA, Increased circulating I... ORPHA:555905
Leopard Syndrome 1
Bundle branch block, Hypospadias, Delayed menarche, Cryptorchidism, Hypertrophic cardiomyopathy, ... OMIM:151100
X-Linked Emery-Dreifuss Muscular Dystrophy
Increased LDL cholesterol concentration, Hypertriglyceridemia, Elevated circulating creatine kina... ORPHA:98863
Emery-Dreifuss Muscular Dystrophy
Increased LDL cholesterol concentration, Hypertriglyceridemia, Elevated circulating creatine kina... ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
Increased LDL cholesterol concentration, Hypertriglyceridemia, Elevated circulating creatine kina... ORPHA:98853
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Increased circulating ferritin concentration, Hypertriglyceridemia OMIM:619313
Methylmalonate Semialdehyde Dehydrogenase Deficiency
Microphthalmia, Cataract, Retinal pigment epithelial mottling OMIM:614105
Cystic Fibrosis
Recurrent Aspergillus infections, Recurrent respiratory infections, Sinusitis, Meconium ileus, Ma... ORPHA:586
Testicular Agenesis
Abnormal vas deferens morphology, Urethrovaginal fistula, Absent external genitalia, Increased ci... ORPHA:325124
Mandibuloacral Dysplasia
Hypercholesterolemia, Hypertriglyceridemia, Increased circulating free fatty acid level ORPHA:2457
Adams-Oliver Syndrome 2
Microphthalmia, Optic atrophy, Developmental cataract OMIM:614219
Scorpion Envenomation
Bundle branch block, Tachycardia, Cardiac conduction abnormality, Congestive heart failure, Myoca... ORPHA:466677
Neuropathy, Hereditary Motor And Sensory, Okinawa Type
Hyperlipidemia, Mildly elevated creatine kinase OMIM:604484
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis
Psoriasiform dermatitis, Acne, Osteomyelitis, Poor appetite, Elevated circulating C-reactive prot... ORPHA:324964
Frontonasal Dysplasia 1
Microphthalmia, Cataract OMIM:136760
Mucopolysaccharidosis-Plus Syndrome
Recurrent respiratory infections, Splenomegaly, Recurrent bronchopulmonary infections, Recurrent ... OMIM:617303
Adult-Onset Nemaline Myopathy
Paraproteinemia ORPHA:171442
Rodrigues Blindness
Microcornea, Microphthalmia, Sclerocornea OMIM:268320
Oculo-Palato-Cerebral Syndrome
Retinal detachment, Cataract, Remnants of the hyaloid vascular system, Leukocoria, Microphthalmia ORPHA:2714
Coloboma, Ocular, Autosomal Recessive
Cataract, Optic disc coloboma, Retinal coloboma, Lens subluxation, Iris coloboma OMIM:216820
Cystic Echinococcosis
Invasive parasitic infection, Unusual infection, Abscess, Eosinophilia, Increased circulating ant... ORPHA:400
Surfactant Metabolism Dysfunction, Pulmonary, 3
Respiratory distress, Apnea, Crazy paving pattern, Nodular pattern on pulmonary HRCT, Tachypnea, ... OMIM:610921
Ebola Hemorrhagic Fever
Sepsis, Leukopenia, Increased circulating antibody level, Lymphopenia, Thrombocytopenia ORPHA:319218
Mohr-Tranebjaerg Syndrome
Agammaglobulinemia, Aspiration pneumonia, Dysphagia ORPHA:52368
Pemphigus Erythematosus
Antinuclear antibody positivity, Anti-acetylcholine receptor antibody positivity, Autoimmunity, S... ORPHA:79480
Oculofaciocardiodental Syndrome
Retinal detachment, Cataract, Ectopia lentis, Microcornea, Microphthalmia, Iris coloboma ORPHA:2712
Pparg-Related Familial Partial Lipodystrophy
Hypertriglyceridemia, Hyperuricemia ORPHA:79083
Calcific Aortic Disease With Immunologic Abnormalities, Familial
Increased circulating antibody level OMIM:114065
Plectin-Related Limb-Girdle Muscular Dystrophy R17
Right bundle branch block ORPHA:254361
Glycogen Storage Disease Iii
Hyperlipidemia, Elevated circulating creatine kinase concentration OMIM:232400
Obesity Due To Congenital Leptin Deficiency
Hypertriglyceridemia ORPHA:66628
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness
Microcornea, Microphthalmia, Cataract, Iris transillumination defect OMIM:617306
Insulin-Resistance Syndrome Type B
Skin rash, Pneumonia, Abnormality of body weight, Increased circulating IgA level, Osteoarthritis... ORPHA:2298
Cataract 10, Multiple Types
Nuclear cataract, Zonular cataract, Posterior Y-sutural cataract, Developmental cataract OMIM:600881
Hemophagocytic Lymphohistiocytosis, Familial, 2
Hyponatremia, Hypertriglyceridemia, Increased circulating ferritin concentration, Hypoalbuminemia... OMIM:603553
Autoinflammation With Pulmonary And Cutaneous Vasculitis
Splenomegaly, Recurrent upper respiratory tract infections, Restrictive ventilatory defect, Inter... OMIM:620296
Mucoepithelial Dysplasia, Hereditary
Pneumonia, Eosinophilia, Recurrent pneumonia, Chronic diarrhea, Chronic mucocutaneous candidiasis... OMIM:158310
Wagro Syndrome
Decreased testicular size, Cataract, Corneal opacity, Hypertension, Aniridia, Hypoplastic female ... OMIM:612469
Familial Partial Lipodystrophy, Dunnigan Type
Hypertriglyceridemia ORPHA:2348
Trichothiodystrophy 4, Nonphotosensitive
Optic atrophy, Decreased fertility, Microcornea, Keratoconjunctivitis sicca, Microphthalmia OMIM:234050
Listeriosis
Respiratory distress, Liver abscess, Abnormal cellular immune system morphology, Sepsis, Granulom... ORPHA:533
Mevalonic Aciduria
Normocytic hypoplastic anemia, Fluctuating splenomegaly, Thrombocytopenia, Leukocytosis, Recurren... OMIM:610377
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome
Retinal detachment, Microphthalmia, Cataract ORPHA:163649
Obesity Due To Leptin Receptor Gene Deficiency
Hypertriglyceridemia ORPHA:179494
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3
Precocious puberty, Macroorchidism OMIM:619950
Sandifer Syndrome
Hiatus hernia, Hematemesis, Feeding difficulties, Gastroesophageal reflux, Esophagitis, Episodic ... ORPHA:71272
Aniridia 1
Hypoplasia of the fovea, Anterior subcapsular cataract, Cataract, Optic nerve hypoplasia, Ectopia... OMIM:106210
Xeroderma Pigmentosum, Complementation Group D
Cataract, Keratitis, Telangiectasia, Keratoconjunctivitis sicca, Conjunctivitis, Microphthalmia, ... OMIM:278730
Ebstein Malformation Of The Tricuspid Valve
Atrial fibrillation, Sudden cardiac death, Congestive heart failure, Right bundle branch block, C... ORPHA:1880
Nance-Horan Syndrome
Microcornea, Microphthalmia, Posterior Y-sutural cataract, Developmental cataract OMIM:302350
Ciliary Dyskinesia, Primary, 43
Neonatal respiratory distress, Productive cough, Recurrent upper respiratory tract infections, Br... OMIM:618699
Zika Virus Disease
Increased circulating IgM level, Infectious encephalitis, Thrombocytopenia, Meningitis ORPHA:448237
Subaortic Stenosis-Short Stature Syndrome
Microphthalmia, Arrhythmia, Type II diabetes mellitus ORPHA:3191
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Decreased response to growth hormone stimulation test, Decreased circulating parathyroid hormone ... OMIM:241410
Amoebic Keratitis
Iris atrophy, Cataract, Abnormal corneal epithelium morphology, Abnormal anterior chamber morphol... ORPHA:67043
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
Retinal detachment, Cataract, Remnants of the hyaloid vascular system, Optic nerve hypoplasia, Re... OMIM:614643
Burkitt Lymphoma
Decreased proportion of CD4-positive helper T cells, Abnormality of the spleen, Abnormal lymph no... ORPHA:543
Coccidioidomycosis
Respiratory distress, Abnormality of the spleen, Increased circulating IgG level, Cough, Morbilli... ORPHA:228123
Tempi Syndrome
Increased circulating IgG level, Increased hematocrit, Polycythemia ORPHA:284227
Lipodystrophy, Familial Partial, Type 6
Hyperlipidemia, Abnormal circulating lipid concentration, Elevated circulating creatine kinase co... OMIM:615980
Griscelli Syndrome Type 1
Hyperlipidemia ORPHA:79476
Sarcoidosis, Susceptibility To, 1
Uveitis, Inflammation of the large intestine, Cough, Emphysema, Abnormal salivary gland morpholog... OMIM:181000
Sporadic Creutzfeldt-Jakob Disease
Respiratory failure requiring assisted ventilation, Recurrent aspiration pneumonia, Sepsis, Recur... ORPHA:204
Parenteral Nutrition-Associated Cholestasis
Splenomegaly, Villous atrophy, Abnormality of cytokine secretion, Small for gestational age ORPHA:567983
Optic Nerve Hypoplasia, Bilateral
Optic nerve aplasia, Remnants of the hyaloid vascular system, Optic nerve hypoplasia OMIM:165550
Spondyloenchondrodysplasia With Immune Dysregulation
Recurrent respiratory infections, Pneumonia, Autoimmune thrombocytopenia, Neutropenia, T lymphocy... OMIM:607944
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies
Microphthalmia, Cryptorchidism OMIM:618494
Crimean-Congo Hemorrhagic Fever
Bundle branch block, Abnormal left ventricular function, Conjunctivitis, Internal hemorrhage, Epi... ORPHA:99827
Fanconi Anemia, Complementation Group J
Microphthalmia OMIM:609054
Spastic Paraplegia 84, Autosomal Recessive
Crohn's disease OMIM:619621
Meconium Aspiration Syndrome
Respiratory distress, Neonatal asphyxia, Wheezing, Atelectasis, Pneumothorax, Hypoxemia, Aspirati... ORPHA:70588
Orofaciodigital Syndrome Viii
High palate, Recurrent aspiration pneumonia, Cleft palate OMIM:300484
Bone Marrow Failure Syndrome 5
Hypogonadism, Testicular atrophy OMIM:618165
Cystic Fibrosis
Meconium ileus, Reduced forced expiratory volume in one second, Reduced forced vital capacity, Re... OMIM:219700
Blepharophimosis, Ptosis, And Epicanthus Inversus
Premature ovarian insufficiency, Female infertility, Increased circulating gonadotropin level, Ir... OMIM:110100
Gaucher Disease Type 1
Pancytopenia, Hypersplenism, Splenomegaly, Thrombocytopenia, Leukopenia, Increased circulating an... ORPHA:77259
Basel-Vanagaite-Smirin-Yosef Syndrome
Cataract, Hypospadias, Microcornea, Pulmonary arterial hypertension, Microphthalmia, Clitoral hyp... OMIM:616449
Meckel Syndrome
Anophthalmia, True hermaphroditism, Pancreatic fibrosis, Sclerocornea, Cataract, Pancreatic cysts... ORPHA:564
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal
Hypercholesterolemia, Hypertriglyceridemia OMIM:610644
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Microphthalmia OMIM:602501
Werner Syndrome
Abnormality of retinal pigmentation, Cataract, Telangiectasia of the skin, Myocardial infarction,... ORPHA:902
Timothy Syndrome
Pulmonary arterial hypertension, Pneumonia, Bronchitis, Recurrent infections OMIM:601005
Aniridia 3
Aniridia, Cataract OMIM:617142
Aspartylglucosaminuria
Macroorchidism, Mitral regurgitation, Cataract OMIM:208400
Ritscher-Schinzel Syndrome 3
Microphthalmia, Cryptorchidism OMIM:619135
Dyskeratosis Congenita, Autosomal Recessive 2
Testicular atrophy OMIM:613987
Bosma Arhinia Microphthalmia Syndrome
Cataract, Hypogonadotropic hypogonadism, Hypospadias, Cryptorchidism, Primary amenorrhea, Hypopla... OMIM:603457
Alstrom Syndrome
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Hyperuricemia OMIM:203800
Facial Dysmorphism, Lens Dislocation, Anterior Segment Abnormalities, And Spontaneous Filtering Blebs
Iris atrophy, Cataract, Ectopia lentis, Spherophakia, Anterior synechiae of the anterior chamber,... OMIM:601552
Microcephaly 20, Primary, Autosomal Recessive
Hypoplasia of the uterus, Microphthalmia, Vaginal atresia, Optic nerve hypoplasia OMIM:617914
Nasopalpebral Lipoma-Coloboma Syndrome
Cataract, Corneal opacity, Bilateral microphthalmos, Microphthalmia, Conjunctival hyperemia ORPHA:2399
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency
Cryptorchidism, Ocular anterior segment dysgenesis, Bilateral microphthalmos ORPHA:369891
Aarskog-Scott Syndrome
Elevated circulating luteinizing hormone level, Bilateral cryptorchidism, Cryptorchidism, Elevate... OMIM:305400
Pyruvate Dehydrogenase E1-Alpha Deficiency
Neonatal respiratory distress, Small for gestational age, Recurrent infections, Gastroesophageal ... ORPHA:79243
Norrie Disease
Retinal detachment, Aplasia/Hypoplasia of the lens, Diabetes mellitus, Corneal opacity, Sclerocor... ORPHA:649
Phace Association
Optic nerve hypoplasia, Optic atrophy, Developmental cataract, Congenital hypothyroidism, Microph... OMIM:606519
Papillorenal Syndrome
Retinal detachment, Cataract, Lens luxation, Optic disc coloboma, Macular degeneration, Hypertens... OMIM:120330
Sapho Syndrome
Psoriasiform dermatitis, Acne, Osteomyelitis, Skin rash, Malabsorption, Abdominal pain, Pustule, ... ORPHA:793
Marden-Walker Syndrome
Microphthalmia, Micropenis, Hypospadias, Cryptorchidism OMIM:248700
Localized Dystrophic Epidermolysis Bullosa, Pretibial Form
Gastrointestinal inflammation ORPHA:79410
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Elevated circulating creatine kinase concentration, Eczema, Abdominal pain, Lymphadenitis, Chroni... OMIM:615895
Microphthalmia With Limb Anomalies
Microphthalmia, Anophthalmia, Unilateral cryptorchidism OMIM:206920
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency
Microphthalmia, Cryptorchidism ORPHA:404440
Aniridia And Absent Patella
Aniridia, Cataract OMIM:106220
Xp21 Deletion Syndrome
Hypertriglyceridemia, Elevated circulating creatine kinase concentration ORPHA:261476
Simpson-Golabi-Behmel Syndrome
Splenomegaly, Increased circulating IgE level, Polysplenia ORPHA:373
Fanconi Anemia, Complementation Group S
Microphthalmia, Ovarian carcinoma, Ovarian neoplasm OMIM:617883
Curry-Jones Syndrome
Microphthalmia, Optic disc coloboma, Iris coloboma ORPHA:1553
Fanconi Anemia, Complementation Group I
Optic nerve hypoplasia, Decreased response to growth hormone stimulation test, Astigmatism, Micro... OMIM:609053
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies
Cataract, Optic atrophy, Ectopia pupillae, Astigmatism, Microphthalmia OMIM:618727
Multiple Myeloma
Increased circulating IgA level, Splenomegaly, Lymphadenopathy, Decreased circulating antibody le... ORPHA:29073
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Hypercholesterolemia, Hypertriglyceridemia, Elevated circulating creatine kinase concentration ORPHA:79240
Juvenile Neuronal Ceroid Lipofuscinosis
Apnea, Episodic tachypnea, Aspiration pneumonia, Dysphagia ORPHA:79264
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies
Microphthalmia, Astigmatism, Retinal coloboma, Cataract OMIM:618571
Atelis Syndrome 2
Remnants of the hyaloid vascular system, Elevated circulating thyroid-stimulating hormone concent... OMIM:620185
Cutis Laxa, Autosomal Recessive, Type Iid
Cataract, Bilateral cryptorchidism, Congestive heart failure, Micropenis, Right bundle branch blo... OMIM:617403
Microphthalmia With Linear Skin Defects Syndrome
Abnormal penis morphology, Abnormality of retinal pigmentation, Posterior embryotoxon, Anophthalm... ORPHA:2556
Jacobsen Syndrome
Hypospadias, Cryptorchidism, Optic atrophy, Microcornea, Clitoral hypoplasia, Macular hypoplasia,... OMIM:147791
Bronchial Neuroendocrine Tumor
Pneumonia, Dyspnea, Nonproductive cough, Asthma, Wheezing, Abnormal pulmonary interstitial morpho... ORPHA:97287
Fanconi-Bickel Syndrome
Hypertriglyceridemia, Hypophosphatemia ORPHA:2088
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Respiratory distress, Inflammatory abnormality of the skin, Small for gestational age, Pneumonia,... ORPHA:26793
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1
Premature ovarian insufficiency, Hypergonadotropic hypogonadism, Cataract, Primary amenorrhea, Se... OMIM:157640
Diarrhea 10, Protein-Losing Enteropathy Type
Hyponatremia, Hypertriglyceridemia, Hypoalbuminemia, Hypocalcemia, Hypomagnesemia OMIM:618183
Gracile Bone Dysplasia
Aniridia, Microphthalmia, Micropenis OMIM:602361
Werner Syndrome
Hypertriglyceridemia, Elevated hemoglobin A1c OMIM:277700
Gaucher Disease, Type Ii
Apnea, Cough, Thrombocytopenia, Splenomegaly, Stridor, Gastroesophageal reflux, Dysphagia, Bronch... OMIM:230900
Trichothiodystrophy 1, Photosensitive
Cataract, Telangiectasia, Microcornea, Keratoconjunctivitis sicca, Hypogonadism, Microphthalmia OMIM:601675
Hartsfield Syndrome
Microphthalmia ORPHA:2117
Juvenile Dermatomyositis
Gastrointestinal hemorrhage, Bundle branch block, Pericarditis, Angina pectoris, Telangiectasia o... ORPHA:93672
Sandestig-Stefanova Syndrome
Microphthalmia, Developmental cataract OMIM:618804
Visceral Myopathy 1
Intestinal pseudo-obstruction, Aganglionic megacolon, Gastroparesis, Pancreatitis, Diarrhea, Vomi... OMIM:155310
Autosomal Dominant Kenny-Caffey Syndrome
Papilledema, Bilateral microphthalmos, Developmental cataract, Retinal calcification, Congenital ... ORPHA:93325
Stromme Syndrome
Cataract, Optic nerve hypoplasia, Sclerocornea, Microcornea, Peters anomaly, Microphthalmia, Iris... OMIM:243605
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Retinal detachment, Cataract, Dilated cardiomyopathy, Optic atrophy, Retinal dysplasia, Pulmonic ... OMIM:253800
3Q29 Microduplication Syndrome
Cataract, Sclerocornea, Aniridia, Microphthalmia, Iris coloboma ORPHA:251038
Congenital Multicore Myopathy With External Ophthalmoplegia
Recurrent respiratory infections, Pneumonia, Abnormal respiratory system physiology, Respiratory ... ORPHA:98905
Baraitser-Winter Syndrome 2
Microphthalmia OMIM:614583
Acute Radiation Syndrome
Inflammatory abnormality of the skin, Diarrhea, Interstitial pneumonitis, Vomiting, Granulocytope... ORPHA:454831
Vacterl With Hydrocephalus
Anophthalmia, Cryptorchidism, Microcornea, Abnormal fallopian tube morphology, Microphthalmia ORPHA:3412
Exudative Vitreoretinopathy 6
Retinal detachment, Cataract, Patchy atrophy of the retinal pigment epithelium, Nuclear cataract,... OMIM:616468
Classic Pantothenate Kinase-Associated Neurodegeneration
Cough, Weight loss, Aspiration pneumonia, Dysphagia ORPHA:216866
Spondyloenchondrodysplasia
Pancytopenia, Autoimmune hemolytic anemia, Skin rash, Pneumonia, Autoimmune thrombocytopenia, Hep... ORPHA:1855
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Hypercholesterolemia, Hypertriglyceridemia, Elevated circulating creatine kinase concentration ORPHA:264580
Fanconi Anemia, Complementation Group F
Pneumonia, Anemia, Leukopenia, Failure to thrive, Thrombocytopenia, Duodenal atresia OMIM:603467
Immunodeficiency 55
Absent natural killer cells, Recurrent infections, Lymphadenopathy, Neutropenia, Lymphopenia OMIM:617827
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2
Tricuspid regurgitation, Optic nerve hypoplasia, Cryptorchidism, Right bundle branch block, Mitra... OMIM:617506
Familial Chylomicronemia Syndrome
Hyperlipidemia, Hypertriglyceridemia, Increased circulating chylomicron concentration ORPHA:444490
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 4
Arrhythmia, Ventricular bigeminy, Left bundle branch block OMIM:610131
Monosomy 18P
Microphthalmia, Hypothyroidism, Hypertension ORPHA:1598
Hyperimmunoglobulinemia D With Periodic Fever
Lymphadenopathy, Increased circulating IgA level ORPHA:343
Neurodevelopmental, Jaw, Eye, And Digital Syndrome
Microphthalmia, Lens coloboma, Pulmonic stenosis OMIM:618914
Cohen Syndrome
Abnormality of retinal pigmentation, Cryptorchidism, Optic atrophy, Delayed puberty, Microphthalm... ORPHA:193
Incontinentia Pigmenti
Hypoplasia of the fovea, Retinal detachment, Cataract, Supernumerary nipple, Keratitis, Optic atr... OMIM:308300
Familial Papillary Thyroid Carcinoma With Renal Papillary Neoplasia
Chronic noninfectious lymphadenopathy, Abnormal lymph node morphology ORPHA:97290
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures
Microphthalmia, Optic nerve hypoplasia OMIM:614833
Chromosome 1Q41-Q42 Deletion Syndrome
Microphthalmia, Supernumerary nipple, Cryptorchidism OMIM:612530
1Q21.1 Microdeletion Syndrome
Microphthalmia, Cataract, Iris coloboma, Cryptorchidism ORPHA:250989
Lipodystrophy, Congenital Generalized, Type 4
Hypertriglyceridemia, Elevated circulating creatine kinase concentration OMIM:613327
Frontorhiny
Cataract, Microphthalmia, Hypopituitarism, Diabetes insipidus, Iris coloboma ORPHA:391474
Cryptococcosis
Respiratory distress, Osteomyelitis, Lymphoid leukemia, Pneumonia, Nodular pattern on pulmonary H... ORPHA:1546
Rothmund-Thomson Syndrome, Type 2
Cataract, Cryptorchidism, Telangiectasia, Microcornea, Hypogonadism, Microphthalmia, Annular panc... OMIM:268400
Spondyloarthropathy, Susceptibility To, 1
Anterior uveitis, Psoriasiform dermatitis, Oligoarthritis, Enthesitis, Inflammation of the large ... OMIM:106300
Systemic Sclerosis
Intestinal bleeding, Gastroesophageal reflux, Abnormal small intestine morphology, Barrett esopha... ORPHA:90291
Meckel Syndrome, Type 5
Microphthalmia, Bile duct proliferation OMIM:611561
Lysinuric Protein Intolerance
Hyperalaninemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterole... ORPHA:470
3-Phosphoserine Phosphatase Deficiency, Infantile/Juvenile Form
Gastroesophageal reflux, Esophagitis, Feeding difficulties ORPHA:79350
Braddock-Carey Syndrome 2
Microphthalmia OMIM:619981
Kenny-Caffey Syndrome, Type 2
Hypoparathyroidism, Papilledema, Developmental cataract, Retinal calcification, Microphthalmia OMIM:127000
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome
Abnormality of retinal pigmentation, Retinal atrophy, Corneal opacity, Macular atrophy, Ectopia p... ORPHA:85167
Chromosome 17Q12 Duplication Syndrome
Microphthalmia, Peters anomaly OMIM:614526
Severe Generalized Junctional Epidermolysis Bullosa
Recurrent urinary tract infections, Recurrent skin infections, Pneumonia, Esophageal stricture, M... ORPHA:79404
Chromosome 13Q33-Q34 Deletion Syndrome
Bifid scrotum, Hypospadias, Cryptorchidism, Penoscrotal transposition, Pulmonic stenosis, Microph... OMIM:619148
Nasopalpebral Lipoma-Coloboma Syndrome
Microphthalmia, Conjunctival hyperemia OMIM:167730
Osteopetrosis, Autosomal Recessive 8
Optic atrophy, Unilateral microphthalmos OMIM:615085
Neutral Lipid Storage Disease With Ichthyosis
Hypertriglyceridemia, Abnormal circulating creatine kinase concentration ORPHA:98907
Dyskeratosis Congenita, Autosomal Recessive 8
Esophageal stricture, Pancolitis, Inflammation of the large intestine, Bone marrow hypocellularit... OMIM:620133
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations
Gastrointestinal hemorrhage, Normocytic anemia, Skin rash, Pneumonia, Sepsis, Normochromic anemia ORPHA:247691
Trisomy 18
Abnormality of retinal pigmentation, Cataract, Cryptorchidism, Microcornea, Microphthalmia, Abnor... ORPHA:3380
Hallermann-Streiff Syndrome
Cataract, Cryptorchidism, Optic disc coloboma, Telangiectasia, Hypertension, Pulmonary arterial h... OMIM:234100
3Q29 Microdeletion Syndrome
Microphthalmia, Cataract, Hypospadias, Pulmonary arterial hypertension ORPHA:65286
Mosaic Trisomy 9
Hypoplasia of penis, Corneal opacity, Cryptorchidism, Abnormality of the uterus, Abnormal fallopi... ORPHA:99776
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum
Anterior uveitis, Inflammatory abnormality of the skin, Skin rash, Pneumonia, Anorexia, Oral-phar... ORPHA:95455
Solitary Median Maxillary Central Incisor
Microphthalmia, Anterior hypopituitarism, Anophthalmia, Decreased response to growth hormone stim... OMIM:147250
Microphthalmia-Brain Atrophy Syndrome
Bilateral microphthalmos ORPHA:77299
Acquired Generalized Lipodystrophy
Abnormal circulating lipid concentration, Hypertriglyceridemia ORPHA:79086
Cataract 5, Multiple Types
Pulverulent cataract, Nuclear cataract, Lamellar cataract, Anterior polar cataract, Zonular cataract OMIM:116800
Esophageal Atresia
Recurrent respiratory infections, Barrett esophagus, Intestinal malrotation, Feeding difficulties... ORPHA:1199
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome
Granulomatous cholangitis, Ulcerative colitis, Increased circulating IgG level, Inflammation of t... ORPHA:562639
Reactive Arthritis
Recurrent urinary tract infections, Pericarditis, Osteomyelitis, Abdominal pain, Pustule, Diarrhe... ORPHA:29207
Incontinentia Pigmenti
Retinal detachment, Cataract, Corneal opacity, Telangiectasia of the skin, Supernumerary nipple, ... ORPHA:464
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2
Respiratory failure requiring assisted ventilation, Ileal atresia, Peritonitis, Pyelonephritis, R... OMIM:619351
Hereditary Hyperekplexia
Gastroesophageal reflux, Esophagitis, Hiatus hernia ORPHA:3197
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9
Buphthalmos, Microphthalmia, Cataract OMIM:616538
Hennekam-Beemer Syndrome
Pneumonia, Respiratory insufficiency, High palate, Vomiting, Mastocytosis, Failure to thrive ORPHA:2135
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Reticulocytosis, Intestinal perforation, Pancreatitis, Rectal prolapse, Peritonitis, Colonic sten... ORPHA:90038
Gm1 Gangliosidosis
Recurrent respiratory infections, Splenomegaly, Hepatosplenomegaly, Weight loss, Macroglossia, Ga... ORPHA:354
Fryns Syndrome
Corneal opacity, Hypospadias, Cryptorchidism, Bicornuate uterus, Microphthalmia ORPHA:2059
Glycogen Storage Disease Of Heart, Lethal Congenital
Cataract, Prolonged QRS complex, Left axis deviation, Congestive heart failure, ST segment elevat... OMIM:261740
Microphthalmia, Syndromic 2
Retinal detachment, Anophthalmia, Hypospadias, Remnants of the hyaloid vascular system, Septate v... OMIM:300166
Frontonasal Dysplasia 3
Microphthalmia OMIM:613456
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Decreased HDL cholesterol concentration, Hypertriglyceridemia ORPHA:280365
Simple Cryoglobulinemia
Monoclonal elevation of circulating IgA, Monoclonal immunoglobulin M proteinemia, Paraproteinemia... ORPHA:91139
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 3
Pneumonia OMIM:608033
Diamond-Blackfan Anemia 7
Recurrent otitis media, Esophagitis, Cleft palate, Recurrent infections OMIM:612562
Neurodevelopmental Disorder With Brain Anomalies, Seizures, And Scoliosis
Right bundle branch block, Optic atrophy OMIM:618590
Multiple Endocrine Neoplasia, Type I
Pancreatic islet cell adenoma, Elevated circulating growth hormone concentration, Peptic ulcer, P... OMIM:131100
Pseudotrisomy 13 Syndrome
Adrenal hypoplasia, Cryptorchidism, Bicornuate uterus, Microphthalmia, Micropenis OMIM:264480
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion
Respiratory distress, Hypoventilation, Apnea, Recurrent pneumonia, High palate, Aspiration pneumonia ORPHA:314655
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5
Restrictive ventilatory defect, Pneumonia OMIM:253700
Seckel Syndrome 10
Hypertriglyceridemia, Elevated hemoglobin A1c OMIM:617253
Phace Syndrome
Cataract, Optic nerve hypoplasia, Sclerocornea, Lens coloboma, Ectopic thyroid, Microphthalmia, I... ORPHA:42775
17Q12 Microduplication Syndrome
Microphthalmia ORPHA:261272
Ring Chromosome 10 Syndrome
Microphthalmia ORPHA:1438
Lassa Fever
Increased circulating IgM level, Sepsis ORPHA:99824
Mitochondrial Complex Iv Deficiency, Nuclear Type 10
Microphthalmia, Hypertrophic cardiomyopathy OMIM:619053
Fuchs Heterochromic Iridocyclitis
Anterior chamber inflammatory cells, Iris atrophy, Papilledema, Cataract, Optic disc pallor, Anis... ORPHA:263479
Proximal Spinal Muscular Atrophy
Hypoventilation, Neonatal respiratory distress, Gastroparesis, Recurrent infections due to aspira... ORPHA:70
Cockayne Syndrome B
Cryptorchidism, Optic atrophy, Developmental cataract, Hypoplasia of the iris, Microcornea, Hyper... OMIM:133540
Adams-Oliver Syndrome
Gastrointestinal hemorrhage, Cataract, Portal hypertension, Pulmonary arterial hypertension, Micr... ORPHA:974
Deafness, X-Linked 7
Unilateral microphthalmos OMIM:301018
Gaisböck Syndrome
Hypertriglyceridemia, Hyperproteinemia, Increased circulating renin level, Hyperuricemia, Hyperch... ORPHA:90041
Fanconi Anemia, Complementation Group A
Male infertility, Microphthalmia, Hypergonadotropic hypogonadism, Cryptorchidism OMIM:227650
Lipodystrophy, Familial Partial, Type 2
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterolemia OMIM:151660
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2
Cataract, Buphthalmos, Persistent pupillary membrane, Peters anomaly, Microphthalmia OMIM:613150
Pelvis-Shoulder Dysplasia
Bilateral microphthalmos, Microcornea, Retinal coloboma, Ambiguous genitalia, Iris coloboma ORPHA:2839
Nephrotic Syndrome, Type 1
Hypoproteinemia, Hyperlipidemia, Hypoalbuminemia OMIM:256300
Congenital Analbuminemia
Hyperlipidemia, Increased alpha-globulin, Hypoalbuminemia, Hypercholesterolemia, Hypoproteinemia ORPHA:86816
Chronic Thromboembolic Pulmonary Hypertension
Cardiac shunt, Right ventricular failure, Pulmonary embolism, Increased pulmonary vascular resist... ORPHA:70591
Manitoba Oculotrichoanal Syndrome
Microphthalmia, Anophthalmia, Vaginal atresia OMIM:248450
Cockayne Syndrome
Abnormality of retinal pigmentation, Optic disc pallor, Diabetes mellitus, Cataract, Retinal atro... ORPHA:191
Joubert Syndrome 14
Intracranial hemorrhage, Microphthalmia, Optic atrophy, Hypertension OMIM:614424
Zollinger-Ellison Syndrome
Gastrointestinal hemorrhage, Hyperparathyroidism, Intestinal obstruction, Duodenal ulcer, Pituita... ORPHA:913
Fanconi Anemia, Complementation Group E
Microphthalmia, Hypergonadotropic hypogonadism, Cryptorchidism OMIM:600901
Progressive Encephalopathy With Leukodystrophy Due To Decr Deficiency
Failure to thrive, Pancreatitis, Aspiration pneumonia ORPHA:431361
Encephalitis Lethargica
Increased circulating antibody level, Recurrent viral infections ORPHA:83600
Dyskeratosis Congenita, Autosomal Dominant 1
Aplastic anemia, Thrombocytopenia, Dyspnea, Leukopenia, Interstitial pneumonitis, Increased mean ... OMIM:127550
Basel-Vanagaite-Smirin-Yosef Syndrome
Hypospadias, Developmental cataract, Microcornea, Pulmonary arterial hypertension, Male urethral ... ORPHA:464738
Roifman-Chitayat Syndrome
Arthritis, Pneumonia OMIM:613328
2Q31.1 Microdeletion Syndrome
Cryptorchidism, Optic disc coloboma, Microphthalmia, Abnormality of the hypothalamus-pituitary ax... ORPHA:251014
Gaucher Disease Type 3
Recurrent respiratory infections, Pancytopenia, Splenomegaly, Anemia, Increased circulating antib... ORPHA:77261
X-Linked Dominant Chondrodysplasia Punctata
Microcornea, Microphthalmia, Cataract ORPHA:35173
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Recurrent respiratory infections, Thrombocytopenia, Sepsis, Hepatosplenomegaly, Increased circula... ORPHA:505248
Lysosomal Acid Lipase Deficiency
Hyponatremia, Hypertriglyceridemia, Hyperkalemia, Xanthelasma, Steatorrhea, Hypercholesterolemia ORPHA:275761
Marbach-Rustad Progeroid Syndrome
Right bundle branch block, Pulmonary insufficiency OMIM:619322
Oculodentodigital Dysplasia, Autosomal Recessive
Microcornea, Microphthalmia, Cataract, Persistent pupillary membrane OMIM:257850
Growth Delay-Intellectual Disability-Hepatopathy Syndrome
Hepatic failure, Feeding difficulties, Esophagitis, Recurrent infections ORPHA:541423
Ohdo Syndrome, X-Linked
Small scrotum, Cryptorchidism, Shawl scrotum, Microphthalmia, Micropenis OMIM:300895
Chops Syndrome
Gastroparesis, Splenomegaly, High, narrow palate, Obesity, Anomalous pulmonary venous return, Con... OMIM:616368
Tick-Borne Encephalitis
Meningitis, Leukocytosis, Unusual CNS infection, Increased circulating IgG level, Increased circu... ORPHA:297
Meckel Syndrome, Type 2
Microphthalmia, Bile duct proliferation OMIM:603194
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Hypertriglyceridemia, Hypercalcemia ORPHA:369837
Cataract 20, Multiple Types
Lamellar cataract, Membranous cataract, Sutural cataract, Cortical cataract OMIM:116100
Poems Syndrome
Thrombocytosis, Increased circulating antibody level, Polycythemia, Lymphadenopathy ORPHA:2905
Neonatal Acute Respiratory Distress Due To Sp-B Deficiency
Neonatal respiratory distress, Spontaneous neonatal pneumothorax, Tachypnea, Intraalveolar phosph... ORPHA:217563
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency
Hyperlipidemia ORPHA:2089
Holoprosencephaly-Postaxial Polydactyly Syndrome
Hypoplasia of penis, Hypospadias, Adrenal hypoplasia, Cryptorchidism, Ambiguous genitalia, Microp... ORPHA:2166
Treacher-Collins Syndrome
Hypoplasia of penis, Small scrotum, Cataract, Cryptorchidism, Abnormality of the adrenal glands, ... ORPHA:861
Steinert Myotonic Dystrophy
Prolonged QRS complex, Decreased response to growth hormone stimulation test, Non-medullary thyro... ORPHA:273
Hallermann-Streiff Syndrome
Congestive heart failure, Cryptorchidism, Developmental cataract, Microphthalmia, Hypothyroidism ORPHA:2108
Lymphedema-Distichiasis Syndrome
Conjunctivitis, Recurrent corneal erosions, Microphthalmia, Arrhythmia, Corneal ulceration OMIM:153400
Fanconi Anemia
Cataract, Hypospadias, Abnormal preputium morphology, Cryptorchidism, Aplasia/Hypoplasia of the i... ORPHA:84
Proteasome-Associated Autoinflammatory Syndrome 1
Increased circulating interleukin 6 concentration, Increased circulating interleukin 8 concentrat... OMIM:256040
Tangier Disease
Hypertriglyceridemia, Hypocholesterolemia ORPHA:31150
Skin Creases, Congenital Symmetric Circumferential, 1
Microcornea, Microphthalmia, Hypoplastic nipples OMIM:156610
Bartsocas-Papas Syndrome 1
Pterygium, Absent external genitalia, Bilateral cryptorchidism, Hypoplastic labia majora, Poplite... OMIM:263650
H Syndrome
Hypertriglyceridemia ORPHA:168569
Frontonasal Dysplasia 2
Bilateral cryptorchidism, Microphthalmia OMIM:613451
Myoclonic-Astatic Epilepsy
Microphthalmia ORPHA:1942
Mend Syndrome
Microphthalmia, Aortic valve stenosis, Cataract, Cryptorchidism ORPHA:401973
Trichothiodystrophy
Cryptorchidism, Bilateral microphthalmos, Developmental cataract, Microcornea, Cardiomyopathy, Go... ORPHA:33364
Acromelic Frontonasal Dysostosis
Cryptorchidism, Hypopituitarism, Remnants of the hyaloid vascular system, Optic nerve hypoplasia OMIM:603671
Pallister-Hall Syndrome
Thyroid dysgenesis, Decreased circulating cortisol level, Decreased response to growth hormone st... OMIM:146510
Steinfeld Syndrome
Microphthalmia, Retinal coloboma, Iris coloboma, Absent gallbladder OMIM:184705
Cockayne Syndrome Type 3
Optic disc pallor, Cataract, Retinal atrophy, Subdural hemorrhage, Retinal hemorrhage, Microcorne... ORPHA:90324
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2
Right bundle branch block, Abnormal EKG, Reduced left ventricular ejection fraction ORPHA:268
Holoprosencephaly
Hypoplasia of penis, Anophthalmia, Diabetes mellitus, Cryptorchidism, Panhypopituitarism, Optic a... ORPHA:2162
Aortic Arch Interruption
Aortic regurgitation, Shock, Tricuspid regurgitation, Blood pressure substantially higher in arms... ORPHA:2299
Chédiak-Higashi Syndrome
Hyponatremia, Increased circulating ferritin concentration, Hypertriglyceridemia, Hypoproteinemia ORPHA:167
Holoprosencephaly 9
Anophthalmia, Anterior pituitary hypoplasia, Optic nerve hypoplasia, Decreased response to growth... OMIM:610829
Aspartylglucosaminuria
Macroorchidism ORPHA:93
Nestor-Guillermo Progeria Syndrome
Decreased serum leptin, Right bundle branch block, Hypertension, Mitral regurgitation, Pulmonary ... OMIM:614008
Degcags Syndrome
Oral-pharyngeal dysphagia, Leukopenia, Iron deficiency anemia, High palate, Gastroesophageal refl... OMIM:619488
Primary Sjögren Syndrome
Normocytic anemia, Decreased proportion of CD4-positive helper T cells, Decreased circulating ant... ORPHA:289390
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Hypertriglyceridemia, Hyperlipidemia, Xanthelasma, Hyperuricemia, Hypercholesterolemia ORPHA:79259
Dubowitz Syndrome
Hypospadias, Cryptorchidism, Hypoplasia of the iris, Microphthalmia, Megalocornea, Iris coloboma OMIM:223370
Lmna-Related Cardiocutaneous Progeria Syndrome
Hypercholesterolemia, Hypertriglyceridemia ORPHA:363618
Alveolar Echinococcosis
Liver abscess, Eosinophilia, Abnormal spleen morphology, Increased circulating antibody level, An... ORPHA:284
Meckel Syndrome, Type 4
Microphthalmia, Bile duct proliferation OMIM:611134
Inflammatory Pseudotumor Of The Liver
Increased hepatitis B virus antibody level ORPHA:90003
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies
Bilateral microphthalmos, Optic nerve hypoplasia OMIM:607597
Classical-Like Ehlers-Danlos Syndrome Type 2
Hypertriglyceridemia ORPHA:536532
Cryptophthalmos, Unilateral Or Bilateral, Isolated
Microphthalmia OMIM:123570
Meckel Syndrome 14
Tricuspid regurgitation, Mitral regurgitation, Aplasia of the uterus, Ambiguous genitalia, Microp... OMIM:619879
Chronic Graft Versus Host Disease
Fasciitis, Xerostomia, Gastroesophageal reflux, Cough, Nausea, Bronchiectasis, Abnormal esophagus... ORPHA:99921
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia
Microphthalmia OMIM:300863
Eisenmenger Syndrome
Left-to-right shunt, Tricuspid regurgitation, Atrial fibrillation, Angina pectoris, Right ventric... ORPHA:97214
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome
Abnormality of the gastrointestinal tract, Intestinal malrotation, Hypoperistalsis, Sepsis, Micro... ORPHA:2241
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome
Cataract, Portal hypertension, Cryptorchidism, Pulmonary arterial hypertension, Microphthalmia, H... OMIM:620005
Fg Syndrome Type 1
Abnormal large intestine morphology, Malrotation of colon, Pyloric stenosis, Gastroesophageal ref... ORPHA:93932
Rift Valley Fever
Thrombocytopenia, Severe viral infection, Increased circulating IgG level, Increased circulating ... ORPHA:319251
Duane-Radial Ray Syndrome
Cataract, Optic disc hypoplasia, Retinal coloboma, Microphthalmia, Iris coloboma OMIM:607323
Stevenson-Carey Syndrome
Microphthalmia OMIM:611961
Viss Syndrome
Increased circulating IgG level, Increased circulating IgE level, Hypereosinophilia, Decreased ci... OMIM:619472
Cornelia De Lange Syndrome 1
Pneumonia, Hiatus hernia, Malrotation of colon, High, narrow palate, Pyloric stenosis, Cleft pala... OMIM:122470
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3
Cataract, Retinal atrophy, Optic atrophy, Buphthalmos, Hypoplasia of the retina, Retinal dysplasi... OMIM:253280
Fanconi Anemia, Complementation Group C
Microphthalmia, Hypergonadotropic hypogonadism, Cryptorchidism OMIM:227645
Mosaic Trisomy 1
Microphthalmia, Micropenis, Penile hypospadias, Opacification of the corneal stroma ORPHA:1692
3P25.3 Microdeletion Syndrome
Microphthalmia, Pulmonic stenosis ORPHA:435638
Galloway-Mowat Syndrome 1
Cataract, Optic atrophy, Hypoplasia of the iris, Opacification of the corneal stroma, Microphthalmia OMIM:251300
Infantile Neuroaxonal Dystrophy
Apneic episodes in infancy, Constipation, Aspiration pneumonia ORPHA:35069
Developmental Delay With Variable Intellectual Disability And Dysmorphic Facies
Microphthalmia, Supernumerary nipple OMIM:620098
Plague
Chapped lip, Skin rash, Anorexia, Abdominal pain, Hematemesis, Meningitis, Lymphadenitis, Erythem... ORPHA:707
Microphthalmia, Syndromic 9
Anophthalmia, Cryptorchidism, Bilateral microphthalmos, Hypoplasia of the uterus, Bicornuate uter... OMIM:601186
X-Linked Dystonia-Parkinsonism
Impaired oropharyngeal swallow response, Aspiration pneumonia, Protruding tongue ORPHA:53351
Mosaic Variegated Aneuploidy Syndrome
Aortic regurgitation, Cataract, Corneal opacity, Vaginal neoplasm, Ambiguous genitalia, Microphth... ORPHA:1052
Japanese Encephalitis
Neutrophilia, Meningitis, Increased circulating IgM level, Increased circulating antibody level, ... ORPHA:79139
Joubert Syndrome 2
Microphthalmia, Optic disc coloboma, Hypoplastic male external genitalia OMIM:608091
Microgastria-Limb Reduction Defect Syndrome
Intestinal malrotation, Hiatus hernia, Esophageal atresia, Rectal atresia, Tracheoesophageal fist... ORPHA:2538
Proboscis Lateralis
Anophthalmia, Corneal opacity, Optic nerve hypoplasia, External genital hypoplasia, Cataract, Opt... ORPHA:141099
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart
Hypospadias, Cryptorchidism, Optic atrophy, Peters anomaly, Microphthalmia, Annular pancreas OMIM:616975
Chromosome 13Q14 Deletion Syndrome
Supernumerary nipple, Cryptorchidism, Microphthalmia, Micropenis, Iris coloboma OMIM:613884
Alpha-Mannosidosis, Infantile Form
Recurrent urinary tract infections, Pancytopenia, Pneumonia, Recurrent infections, Hepatosplenome... ORPHA:309282
Congenitally Corrected Transposition Of The Great Arteries
Wolff-Parkinson-White syndrome, First degree atrioventricular block, Heart block, Ventricular tac... ORPHA:216694
Igg4-Related Pachymeningitis
Complement deficiency, Lymphadenitis, Eosinophilia, Increased circulating IgG4 level ORPHA:449427
Mercury Poisoning
Respiratory distress, Dyspnea, Interstitial pneumonitis, Respiratory failure, Episodic vomiting, ... ORPHA:330021
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies
Corneal opacity, Cerebral hemorrhage, Polycoria, Retinal hemorrhage, Developmental cataract, Hypo... OMIM:175780
Roberts Syndrome
Cataract, Cryptorchidism, Long penis, Microphthalmia, Clitoral hypertrophy ORPHA:3103
Basal Cell Nevus Syndrome 1
Ovarian fibroma, Cataract, Ovarian carcinoma, Microphthalmia, Iris coloboma OMIM:109400
Griscelli Syndrome Type 2
Hyperlipidemia ORPHA:79477
Acro-Renal-Ocular Syndrome
Cataract, Optic disc hypoplasia, Optic disc coloboma, Microcornea, Microphthalmia, Iris coloboma ORPHA:959
Tetraamelia Syndrome 1
Cataract, Hypoplasia of the fallopian tube, Absent external genitalia, Adrenal gland agenesis, Mi... OMIM:273395
Glycerol Kinase Deficiency
Hypertriglyceridemia, Hyperglycerolemia OMIM:307030
Corpus Callosum, Agenesis Of, With Impaired Intellectual Development, Ocular Coloboma, And Micrognathia
Recurrent pneumonia, Chronic constipation, High palate, Recurrent aspiration pneumonia, Bifid uvula OMIM:300472
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type
Microphthalmia ORPHA:163966
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome
Microphthalmia, Ocular albinism ORPHA:1352
Cholestasis-Lymphedema Syndrome
Hyperlipidemia ORPHA:1414
Cousin Syndrome
Microcornea, Microphthalmia, Ambiguous genitalia, female, Ambiguous genitalia, male OMIM:260660
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2
Hypertriglyceridemia OMIM:619418
Aicardi Syndrome
Retinal detachment, Cataract, Precocious puberty, Optic disc coloboma, Optic atrophy, Microphthalmia OMIM:304050
Lesch-Nyhan Syndrome
Testicular atrophy OMIM:300322
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Ambiguous genitalia, Microphthalmia, Cryptorchidism OMIM:616300
Cutis Laxa, Autosomal Recessive, Type Iic
Aortic regurgitation, Tricuspid regurgitation, Bilateral cryptorchidism, Right bundle branch bloc... OMIM:617402
Chondrodysplasia Punctata 2, X-Linked Dominant
Microphthalmia, Cataract OMIM:302960
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form
Recurrent skin infections, Anal fissure, Glomerulonephritis, Malnutrition, Gastrointestinal infla... ORPHA:79408
Osteoporosis-Pseudoglioma Syndrome
Iris atrophy, Cataract, Phthisis bulbi, Retinal calcification, Absent anterior chamber of the eye... OMIM:259770
Heart And Brain Malformation Syndrome
Microphthalmia OMIM:616920
Turner Syndrome Due To Structural X Chromosome Anomalies
Hashimoto thyroiditis, Celiac disease, High, narrow palate, Increased circulating gonadotropin le... ORPHA:99413
Mosaic Monosomy X
Hashimoto thyroiditis, Celiac disease, High, narrow palate, Increased circulating gonadotropin le... ORPHA:99228
Monosomy X
Hashimoto thyroiditis, Celiac disease, High, narrow palate, Increased circulating gonadotropin le... ORPHA:99226
Turner Syndrome
Hashimoto thyroiditis, Celiac disease, High, narrow palate, Increased circulating gonadotropin le... ORPHA:881
Orofaciodigital Syndrome Ix
High palate, Recurrent aspiration pneumonia, Cleft palate OMIM:258865
Mucopolysaccharidosis Type 3
Recurrent sinopulmonary infections, Malabsorption, Respiratory tract infection, Splenomegaly, Rec... ORPHA:581
Focal Dermal Hypoplasia
Corneal opacity, Telangiectasia of the skin, Ectopia lentis, Hypoplasia of the iris, Microphthalm... ORPHA:2092
Neuroleptic Malignant Syndrome
Pulmonary embolism, Leukocytosis, Sepsis, Vomiting, Aspiration pneumonia, Dysphagia, Thrombocytos... ORPHA:94093
Aicardi Syndrome
Retinal detachment, Abnormality of retinal pigmentation, Precocious puberty, Optic disc coloboma,... ORPHA:50
Amoebiasis Due To Free-Living Amoebae
Sinusitis, Pneumonia, Nausea, Pustule, Respiratory tract infection, Granuloma, Vomiting, Infectio... ORPHA:68
Oculotrichoanal Syndrome
Microphthalmia, Anophthalmia ORPHA:2717
Severe Microbrachycephaly-Intellectual Disability-Athetoid Cerebral Palsy Syndrome
Microphthalmia, Iris coloboma, Supernumerary nipple ORPHA:1236
Combined Oxidative Phosphorylation Deficiency 25
Chronic constipation, Failure to thrive, Aspiration pneumonia OMIM:616430
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome
Absent nipple, Aplasia of the thymus, Optic disc coloboma, Congenital hypothyroidism, Hydrocele t... OMIM:620186
Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction
Hypoventilation, Small intestinal dysmotility, Apnea, Hypopnea, Chronic constipation, Restrictive... OMIM:619482
Monosomy 9Q22.3
Microphthalmia, Ovarian fibroma, Cataract ORPHA:77301
Fanconi Anemia, Complementation Group D2
Hypergonadotropic hypogonadism, Cryptorchidism, Annular pancreas, Microphthalmia, Micropenis OMIM:227646
Chronic Visceral Acid Sphingomyelinase Deficiency
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Hyperlipidemia, Increased LDL chol... ORPHA:77293
Skin Creases, Congenital Symmetric Circumferential, 2
Small scrotum, Hypospadias, Cryptorchidism, Microcornea, Microphthalmia OMIM:616734
Congenital Fiber-Type Disproportion Myopathy
Recurrent respiratory infections, Hypercapnia, Respiratory insufficiency due to muscle weakness, ... ORPHA:2020
Liver Disease, Severe Congenital
Chronic gastritis, Recurrent urinary tract infections, Pulmonary edema, Eczema, Pneumonia, Spleno... OMIM:619991
Microcephaly-Lymphedema-Chorioretinopathy Syndrome
Retinal detachment, Abnormality of retinal pigmentation, Anophthalmia, Cataract, Optic atrophy, R... ORPHA:2526
22Q11.2 Deletion Syndrome
Hypoparathyroidism, Gastrointestinal hemorrhage, Hyperthyroidism, Hypospadias, Cholelithiasis, Ca... ORPHA:567
Oculocerebrorenal Syndrome Of Lowe
Hyperparathyroidism, Cataract, Corneal opacity, Cryptorchidism, Abnormal pupil morphology, Buphth... ORPHA:534
Fryns Syndrome
Bifid scrotum, Ectopic pancreatic tissue, Hypospadias, Cryptorchidism, Bicornuate uterus, Opacifi... OMIM:229850
Kikuchi-Fujimoto Disease
Generalized lymphadenopathy, Splenomegaly, Cervical lymphadenopathy, Thrombocytopenia, Abnormal l... ORPHA:50918
Yunis-Varon Syndrome
Cataract, Hypospadias, Sclerocornea, Cryptorchidism, Bilateral microphthalmos, Renovascular hyper... ORPHA:3472
Fetal Alcohol Syndrome
Microphthalmia ORPHA:1915
Oculodentodigital Dysplasia
Microcornea, Microphthalmia, Arrhythmia, Cataract OMIM:164200
Mucopolysaccharidosis, Type Vi
Pneumonia, Splenomegaly, Recurrent upper respiratory tract infections, Macroglossia, Chronic cons... OMIM:253200
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Aortic regurgitation, Hypospadias, Optic nerve hypoplasia, Abnormal optic disc morphology, Retina... ORPHA:508498
Mednik Syndrome
Volvulus, Jejunal atresia, Microcolon, Diarrhea OMIM:609313
Marshall-Smith Syndrome
Apnea, Pyloric stenosis, Recurrent upper respiratory tract infections, Anteriorly placed anus, Gl... OMIM:602535
Immunodeficiency 87 And Autoimmunity
Hypokalemia, Hypertriglyceridemia, Elevated circulating C-reactive protein concentration OMIM:619573
Cholera
Achlorhydria, Diarrhea, Tachypnea, Vomiting, Aspiration pneumonia, Hyperventilation ORPHA:173
Myhre Syndrome
Cataract, Cryptorchidism, Hypertension, Microphthalmia, Aortic valve stenosis OMIM:139210
Bickerstaff Brainstem Encephalitis
Respiratory failure requiring assisted ventilation, Pneumonia, Hypercapnia, Respiratory tract inf... ORPHA:79138
Charge Syndrome
Bifid scrotum, Anophthalmia, Hypogonadotropic hypogonadism, Cryptorchidism, Optic atrophy, Microp... ORPHA:138
Neutral Lipid Storage Myopathy
Hypertriglyceridemia, Abnormal circulating creatine kinase concentration ORPHA:98908
Neuroocular Syndrome
Hypoplasia of the fovea, Cataract, Remnants of the hyaloid vascular system, Brushfield spots, Len... OMIM:619539
Linear Nevus Sebaceus Syndrome
Microphthalmia, Adenoma sebaceum, Iris coloboma ORPHA:2612
Premature Aging Syndrome, Penttinen Type
Corneal stromal edema, Microphthalmia, Elevated circulating thyroid-stimulating hormone concentra... OMIM:601812
Acrofrontofacionasal Dysostosis 1
Microphthalmia, Iris atrophy, Optic atrophy OMIM:201180
Multiple Endocrine Neoplasia Type 4
Hyperparathyroidism, Pituitary null cell adenoma, Elevated circulating growth hormone concentrati... ORPHA:276152
Combined Deficiency Of Factor V And Factor Viii
Hyperlipidemia, Hyperuricemia ORPHA:35909
Igg4-Related Dacryoadenitis And Sialadenitis
Increased circulating IgG4 level, Increased circulating IgA level, Lymphadenopathy, Increased cir... ORPHA:79078
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Bifid scrotum, Hypospadias, Cryptorchidism, Antecubital pterygium, Popliteal pterygium, Clitoral ... OMIM:609945
Al Amyloidosis
Howell-Jolly bodies, Increased circulating antibody level, Anemia ORPHA:85443
Microphthalmia With Limb Anomalies
Microphthalmia, Optic atrophy, True anophthalmia, Cryptorchidism ORPHA:1106
Fanconi Anemia, Complementation Group R
Microphthalmia OMIM:617244
Charge Syndrome
Hypoparathyroidism, Anophthalmia, Hypogonadotropic hypogonadism, Decreased response to growth hor... OMIM:214800
Kindler Epidermolysis Bullosa
Recurrent skin infections, Esophageal stricture, Cheilitis, Inflammation of the large intestine, ... ORPHA:2908
Marburg Hemorrhagic Fever
Reticulocytosis, Lymphopenia, Severe infection, Neutrophilia in presence of infection, Lymphadeno... ORPHA:99826
Renpenning Syndrome 1
Cataract, Hypospadias, Phimosis, Microphthalmia, Decreased testicular size OMIM:309500
Scleromyxedema
Paraproteinemia ORPHA:167635
X-Linked Intellectual Disability, Snyder Type
Cryptorchidism, Hypospadias, Abnormality of the Leydig cells, Testicular atrophy ORPHA:3063
Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease
Aganglionic megacolon, Splenomegaly, Ileus, Constipation, Microcolon ORPHA:163746
Alagille Syndrome 1
Hypercholesterolemia, Hypertriglyceridemia OMIM:118450
Frontofacionasal Dysplasia
Microcornea, Microphthalmia, Cataract, Iris coloboma OMIM:229400
Cerebrooculofacioskeletal Syndrome 4
Bilateral microphthalmos OMIM:610758
Lowe Oculocerebrorenal Syndrome
Cryptorchidism, Corneal scarring, Developmental cataract, Microphthalmia, Dense posterior cortica... OMIM:309000
Monosomy 9P
Ambiguous genitalia, Microphthalmia, Hypospadias, Cryptorchidism ORPHA:261112
Mandibuloacral Dysplasia Progeroid Syndrome
Hypertriglyceridemia, Elevated hemoglobin A1c OMIM:619127
Geleophysic Dysplasia 3
Dyspnea, Respiratory failure, Pneumonia OMIM:617809
Meckel Syndrome, Type 1
External genital hypoplasia, Adrenal hypoplasia, Cryptorchidism, Ambiguous genitalia, female, Amb... OMIM:249000
Mowat-Wilson Syndrome
Bifid scrotum, Cataract, Hypospadias, Supernumerary nipple, Cryptorchidism, Microcornea, Ectopia ... OMIM:235730
Ossification Anomalies-Psychomotor Developmental Delay Syndrome
Gastroesophageal reflux, Hepatic hemangioma, Recurrent aspiration pneumonia, Dysphagia ORPHA:73230
Bannayan-Riley-Ruvalcaba Syndrome
Intestinal polyposis, Abnormal large intestine morphology, Cachexia, Narrow palate, Hamartomatous... ORPHA:109
Focal Dermal Hypoplasia
Anophthalmia, Supernumerary nipple, Ectopia lentis, Cryptorchidism, Optic atrophy, Telangiectasia... OMIM:305600
Carnitine Palmitoyltransferase Ii Deficiency
Elevated circulating creatine kinase concentration, Elevated circulating acylcarnitine concentrat... ORPHA:157
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis
Seborrheic dermatitis, Splenomegaly, Truncal obesity, Aspiration pneumonia, Thrombocytopenia OMIM:301072
Lipodystrophy, Congenital Generalized, Type 2
Hypertriglyceridemia, Elevated hemoglobin A1c OMIM:269700
Lissencephaly Due To Lis1 Mutation
Aspiration pneumonia ORPHA:95232
Townes-Brocks Syndrome
Bifid scrotum, Hypoplasia of penis, Rectoperineal fistula, Hypospadias, Cataract, Cryptorchidism,... ORPHA:857
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency
Optic disc pallor, Hypospadias, Optic nerve hypoplasia, Cryptorchidism, Bilateral microphthalmos,... ORPHA:468631
Cat Eye Syndrome
Microphthalmia, Iris coloboma, Pulmonic stenosis OMIM:115470
Microphthalmia, Syndromic 6
Anophthalmia, Small scrotum, Female hypogonadism, Adrenal hypoplasia, Sclerocornea, Cryptorchidis... OMIM:607932
Mitochondrial Complex Ii Deficiency, Nuclear Type 3
Aspiration pneumonia OMIM:619167
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Recurrent respiratory infections, Recurrent urinary tract infections, Intestinal malrotation, Pne... ORPHA:353281
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 3
Sepsis, Microcolon OMIM:619362
Galloway-Mowat Syndrome 3
Microphthalmia, Hypertension OMIM:617729
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome
Microphthalmia, Corneal opacity ORPHA:364577
Gm1 Gangliosidosis Type 1
Macroglossia, Aspiration pneumonia, Hepatosplenomegaly ORPHA:79255
Fraser Syndrome
Hypoplasia of penis, Anophthalmia, Small scrotum, Hypospadias, Cryptorchidism, Bicornuate uterus,... ORPHA:2052
Lipodystrophy, Congenital Generalized, Type 1
Hypertriglyceridemia OMIM:608594
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
Hyperlipidemia, Elevated circulating creatinine concentration, Increased blood urea nitrogen OMIM:235400
Yellow Fever
Increased circulating interleukin 6 concentration, Neutrophilia, Leukocytosis, Increased circulat... ORPHA:99829
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Elevated circulating creatine kinase concentration, Elevated circulating acylcarnitine concentrat... ORPHA:228308
Primary Sclerosing Cholangitis
Recurrent systemic pyogenic infections, Abnormal eosinophil morphology, Splenomegaly, Hepatosplen... ORPHA:171
Meconium Ileus
Chronic diarrhea, Microcolon, Meconium ileus OMIM:614665
Curry-Jones Syndrome
Microphthalmia, Iris coloboma OMIM:601707
Tay-Sachs Disease
Hepatosplenomegaly, Aspiration pneumonia, Dysphagia ORPHA:845
Fraser Syndrome 2
Ambiguous genitalia, Microphthalmia, Hypoplasia of the thymus OMIM:617666
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Absent gallbladder, Septate vagina, Uterus didelphys, Microphthalmia, Micropenis OMIM:617925
Fanconi Anemia, Complementation Group L
Microphthalmia, Micropenis, Aplasia of the uterus OMIM:614083
Alobar Holoprosencephaly
Central apnea, Chronic lung disease, Abnormal pattern of respiration, Cleft palate, Gastroesophag... ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly
Central apnea, Chronic lung disease, Abnormal pattern of respiration, Cleft palate, Gastroesophag... ORPHA:93926
Lobar Holoprosencephaly
Central apnea, Chronic lung disease, Abnormal pattern of respiration, Cleft palate, Gastroesophag... ORPHA:93924
Semilobar Holoprosencephaly
Central apnea, Chronic lung disease, Abnormal pattern of respiration, Cleft palate, Gastroesophag... ORPHA:220386
Full Nf2-Related Schwannomatosis
Posterior subcapsular cataract, Remnants of the hyaloid vascular system, Cortical cataract ORPHA:637
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease
Increased circulating cortisol level, Hyperaldosteronism, Paradoxical increased cortisol secretio... ORPHA:189427
Adult-Onset Autosomal Dominant Leukodystrophy
Recurrent urinary tract infections, Constipation, Aspiration pneumonia, Dysphagia ORPHA:99027
Microcephaly-Micromelia Syndrome
Microphthalmia OMIM:251230
Monosomy 13Q14
Microphthalmia, Cataract, Iris coloboma ORPHA:1587
Mycophenolate Mofetil Embryopathy
Microphthalmia, Iris coloboma ORPHA:268249
Pallister-Hall Syndrome
Small scrotum, Adrenal hypoplasia, Gonadotropin deficiency, Micropenis, Aplasia/hypoplasia of the... ORPHA:672
Neu-Laxova Syndrome 1
Cataract, Bifid uterus, Cryptorchidism, Microphthalmia, Pterygium OMIM:256520
Atypical Werner Syndrome
Hypertriglyceridemia ORPHA:79474
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2
Increased circulating antibody level OMIM:606002
Fraser Syndrome 1
Anophthalmia, Hypospadias, Corneal opacity, Cryptorchidism, Bilateral microphthalmos, Abnormal th... OMIM:219000
Lipodystrophy, Familial Partial, Type 7
Hypercholesterolemia, Hypertriglyceridemia OMIM:606721
Adams-Oliver Syndrome 1
Supernumerary nipple, Hypertension, Pulmonary arterial hypertension, Pulmonic stenosis, Microphth... OMIM:100300
Fontaine Progeroid Syndrome
Small scrotum, Absent nipple, Tricuspid regurgitation, Cryptorchidism, Hypoplastic labia majora, ... OMIM:612289
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 5
Microcolon, Intestinal malrotation OMIM:619431
Opitz Gbbb Syndrome
Tracheoesophageal fistula, Cleft palate, Stridor, Ectopic anus, High palate, Dysphagia, Tracheoma... ORPHA:2745
Wiedemann-Rautenstrauch Syndrome
Hypertriglyceridemia OMIM:264090
Cysticercosis
Increased circulating antibody level, Infectious encephalitis ORPHA:1560
Momo Syndrome
Abnormality of the thyroid gland, Bilateral microphthalmos ORPHA:2563
Witteveen-Kolk Syndrome
Cataract, Hypospadias, Decreased response to growth hormone stimulation test, Unilateral cryptorc... OMIM:613406
Teebi-Shaltout Syndrome
Microphthalmia, Aortic valve stenosis OMIM:272950
Branchiooculofacial Syndrome
Anophthalmia, Hypospadias, Cataract, Supernumerary nipple, Cryptorchidism, Retinal coloboma, Micr... OMIM:113620
Holoprosencephaly 2
Remnants of the hyaloid vascular system, Adrenal hypoplasia, Microphthalmia, Diabetes insipidus, ... OMIM:157170
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome
Microphthalmia, Iris coloboma, Absent gallbladder ORPHA:3186
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome
Asthma, Obesity, Macroglossia, Glossoptosis, High palate, Gastroesophageal reflux, Aspiration pne... ORPHA:444077
Familial Multiple Lipomatosis
Hyperlipidemia ORPHA:199276
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Recurrent respiratory infections, Recurrent urinary tract infections, Intestinal malrotation, Pne... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Recurrent respiratory infections, Recurrent urinary tract infections, Intestinal malrotation, Pne... ORPHA:353277
Kabuki Syndrome 1
Hemolytic anemia, Anal stenosis, Intestinal malrotation, Malabsorption, Autoimmune thrombocytopen... OMIM:147920
Treacher Collins Syndrome 1
Cryptorchidism, Bilateral microphthalmos, Abnormal parotid gland morphology OMIM:154500
Holoprosencephaly 7
Microphthalmia, Bilateral microphthalmos, Panhypopituitarism, Iris coloboma OMIM:610828
Coffin-Siris Syndrome
Hepatoblastoma, Recurrent upper respiratory tract infections, Aspiration pneumonia, Recurrent inf... ORPHA:1465
Wiedemann-Rautenstrauch Syndrome
Hypertriglyceridemia ORPHA:3455
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Bifid scrotum, Abnormal pupil morphology, Microcornea, Webbed penis, Micropenis, Iris coloboma, I... ORPHA:261552
Gaucher Disease
Pancytopenia, Splenomegaly, Anemia, Increased circulating antibody level, Thrombocytopenia ORPHA:355
Glycogen Storage Disease Ia
Xanthelasma, Hyperlipidemia, Hyperuricemia OMIM:232200
Roberts-Sc Phocomelia Syndrome
Cataract, Hypospadias, Enlarged labia minora, Corneal opacity, Cryptorchidism, Long penis, Bicorn... OMIM:268300
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome
Microphthalmia, Cataract ORPHA:306542
Heart Defects, Congenital, And Other Congenital Anomalies
Intestinal malrotation, Pulmonary artery stenosis, Colon perforation, Failure to thrive, Microcolon OMIM:600001
Nk-Cell Enteropathy
Increased T cell count ORPHA:263665
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Bifid scrotum, Cataract, Hypospadias, Webbed penis, Septate vagina, Cryptorchidism, Hydrocele tes... ORPHA:261537
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb
Aortic regurgitation, Cataract, Sutural cataract, Nuclear pulverulent cataract, Microphthalmia OMIM:612474
Niemann-Pick Disease Type C
Bone-marrow foam cells, Splenomegaly, Abnormal lung morphology, Respiratory insufficiency, Hepato... ORPHA:646
Glycogen Storage Disease Ib
Xanthelasma, Hyperlipidemia, Hyperuricemia OMIM:232220
Mowat-Wilson Syndrome
Bifid scrotum, Cataract, Hypospadias, Webbed penis, Septate vagina, Cryptorchidism, Hydrocele tes... ORPHA:2152
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance
Hyperlipidemia, Hypoalbuminemia ORPHA:567546
Microphthalmia, Syndromic 1
Anophthalmia, Hypospadias, Cryptorchidism, Optic disc coloboma, Microcornea, Ciliary body colobom... OMIM:309800
Robin Sequence With Distinctive Facial Appearance And Brachydactyly
Microphthalmia, Corneal opacity OMIM:608670
Isolated Arrhinia
Microphthalmia ORPHA:1134
Hereditary Sensory And Autonomic Neuropathy Type 4
Fasciitis, Osteomyelitis, Abscess, Recurrent Staphylococcus aureus infections, Dysphagia, Septic ... ORPHA:642
Holoprosencephaly 1
Microphthalmia, Micropenis, Diabetes insipidus, Adrenal hypoplasia OMIM:236100
Tubulointerstitial Nephritis And Uveitis Syndrome
Normocytic anemia, Increased circulating IgG level, Normochromic anemia, Increased circulating an... ORPHA:91500
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Hypoventilation, Apnea, Breathing dysregulation, Constipation, Gastroesophageal reflux, Aspiratio... ORPHA:438213
Hydrolethalus Syndrome 1
Hypospadias, Bifid uterus, Adrenal gland dysgenesis, Microphthalmia, Abnormal vagina morphology OMIM:236680
Glycogen Storage Disease Ic
Xanthelasma, Hyperlipidemia, Hyperuricemia OMIM:232240
Doors Syndrome
Respiratory distress, Narrow palate, Cleft palate, High palate, Gastroesophageal reflux, Aspirati... ORPHA:79500
Restrictive Dermopathy
Submucous cleft hard palate, Pulmonary hypoplasia, Microcolon ORPHA:1662
8Q24.3 Microdeletion Syndrome
Gastrointestinal hemorrhage, Ectopic posterior pituitary, Optic nerve hypoplasia, Bilateral micro... ORPHA:508488
Sarcoidosis
Hemolytic anemia, Eosinophilia, Increased T cell count, Anemia, Leukopenia, Thrombocytopenia ORPHA:797
Yunis-Varon Syndrome
Small for gestational age, Failure to thrive in infancy, Pyloric stenosis, High palate, Aspiratio... OMIM:216340
Alström Syndrome
Hyperlipidemia, Hypertriglyceridemia ORPHA:64
Pmm2-Cdg
Respiratory distress, Pericarditis, High palate, Vomiting, Aspiration pneumonia, Impaired neutrop... ORPHA:79318
Homozygous Familial Hypercholesterolemia
Increased LDL cholesterol concentration, Hypercholesterolemia, Hyperlipidemia ORPHA:391665
Craniofacial Microsomia 1
Limbal dermoid, Microphthalmia, Anophthalmia OMIM:164210

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 Il25

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 Il25.

No publications found that use IMPC mice or data for Il25.

Order Mouse and ES Cells

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MGI Allele Allele Type Produced
Il25tm233001(L1L2_Bact_P) Reporter-tagged deletion allele (with selection cassette) Targeting vectors
Il25tm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) ES Cells
Il25tm456563(L1L2_GT2_LF2A_LacZ_BetactP_neo) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors
Il25em1(IMPC)Mbp Exon Deletion Mice, Tissue

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