Not currently registered for phenotyping at IMPC

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

Gene Summary

flap structure specific endonuclease 1

IMPC Data Collections

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

IMPC Phenotype Summary

Not Significant
Not tested


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

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by Fen1 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 Fen1 by phenotypic similarity.

Disease Similarity of
Matching phenotypes Source
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency
Systemic lupus erythematosus, Anti-dsDNA antibody positivity, Splenomegaly, Antinuclear antibody ... OMIM:619375
Combined Immunodeficiency Due To Partial Rag1 Deficiency
Autoimmunity, Interstitial pneumonitis, Splenomegaly, Autoimmune hemolytic anemia, Neutropenia in... ORPHA:231154
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Recurrent urinary tract infections, Recurrent otitis media, Decreased CD4:CD8 ratio, Autoimmunity... OMIM:618495
Autoimmune Lymphoproliferative Syndrome, Type Iii
Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of memory ... OMIM:615559
Systemic Lupus Erythematosus 16
Systemic lupus erythematosus, Anti-dsDNA antibody positivity, Antinuclear antibody positivity, Lu... OMIM:614420
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis
Pneumonia, Plasmacytosis, Lymphopenia, Autoimmune hemolytic anemia, Glomerulonephritis OMIM:247800
Complement Component 3 Deficiency, Autosomal Recessive
Recurrent pneumonia, Recurrent tonsillitis, Systemic lupus erythematosus, Renal insufficiency, Me... OMIM:613779
Autoimmune Disease, Multisystem, Infantile-Onset, 2
Minimal change glomerulonephritis, Autoimmunity, Podocyte foot process effacement, Proteinuria, C... OMIM:617006
Autoimmune Disease, Multisystem, Infantile-Onset, 1
Recurrent upper respiratory tract infections, Eczematoid dermatitis, Exocrine pancreatic insuffic... OMIM:615952
C1Q Deficiency 1
Autoimmunity, Membranoproliferative glomerulonephritis, Systemic lupus erythematosus OMIM:613652
Fraxf Syndrome
Folate-dependent fragile site at Xq28 ORPHA:100974
Immunodeficiency, Common Variable, 6
Abnormal T cell count, Mesangial Immune complex deposition, Stage 5 chronic kidney disease, Abnor... OMIM:613496
Pulmonary Hypoplasia, Primary
Neonatal death, Pulmonary hypoplasia OMIM:265430
Mast Cell Sarcoma
Mastocytosis, Splenomegaly, Weight loss, Lymphadenopathy, Hepatomegaly, Sarcoma, Mediastinal lymp... ORPHA:66661
Systemic Lupus Erythematosus
Nephritis, Systemic lupus erythematosus, Hemolytic anemia, Malar rash, Leukopenia, Antinuclear an... OMIM:152700
Adenocarcinoma Of The Esophagus
Barrett esophagus, Obesity, Esophageal carcinoma, Lymphadenopathy ORPHA:99976
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Hepatitis, Systemic lupus erythematosus, Recurrent otitis media, Lymphopenia, Autoimmunity, Respi... ORPHA:444463
N Syndrome
Leukemia, Abnormality of chromosome stability, Cryptorchidism, Neoplasm OMIM:310465
Idiopathic Pulmonary Hemosiderosis
Reticular pattern on pulmonary HRCT, Diffuse alveolar hemorrhage, Antineutrophil antibody positiv... ORPHA:99931
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Inflammatory abnormality of the skin, Psoriasiform dermatitis, Crusting erythematous dermatitis, ... ORPHA:37042
Autoimmune Interstitial Lung, Joint, And Kidney Disease
Abnormal pulmonary interstitial morphology, Pulmonary hemorrhage, Mesangial hypercellularity, Ant... OMIM:616414
Immunodeficiency 51
Pneumonia, Folliculitis, Chronic mucocutaneous candidiasis, Eczematoid dermatitis, Cutaneous absc... OMIM:613953
Primary Membranoproliferative Glomerulonephritis
Chronic kidney disease, Acute kidney injury, Stage 5 chronic kidney disease, Renal insufficiency,... ORPHA:54370
Pulmonary Nodular Lymphoid Hyperplasia
Plasmacytosis, Nodular pattern on pulmonary HRCT, Follicular hyperplasia, Autoimmune antibody pos... ORPHA:60026
Autoinflammation With Pulmonary And Cutaneous Vasculitis
Recurrent upper respiratory tract infections, Interstitial pneumonitis, Splenomegaly, Hepatomegal... OMIM:620296
Lupus Erythematosus Tumidus
Anti-dsDNA antibody positivity, Antinuclear antibody positivity, Deep dermal perivascular inflamm... ORPHA:90283
Mantle Cell Lymphoma
B-cell lymphoma, Weight loss, Splenomegaly, Lymphadenopathy ORPHA:52416
Nephrotic Syndrome, Type 7
Thickened glomerular basement membrane, Acute kidney injury, Stage 5 chronic kidney disease, Podo... OMIM:615008
Neutrophilia, Hereditary
Myelodysplasia, Splenomegaly, Neutrophilia OMIM:162830
C3 Glomerulopathy 3
Thickening of glomerular capillary wall, Stage 5 chronic kidney disease, Renal insufficiency, Mes... OMIM:614809
Drug Reaction With Eosinophilia And Systemic Symptoms
Hepatitis, Renal insufficiency, Skin rash, Interstitial pneumonitis, Infectious encephalitis, Pus... ORPHA:139402
Chronic Beryllium Disease
Reticulonodular pattern on pulmonary HRCT, Lymphocytic interstitial pneumonia, Hypersensitivity p... ORPHA:133
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome
Hepatomegaly, Splenomegaly ORPHA:2274
Fanconi Anemia, Complementation Group G
Leukemia, Abnormality of chromosome stability, Myelodysplasia OMIM:614082
Complement Component C1R/C1S Deficiency
Discoid lupus rash, Nephritis, Autoimmunity, Recurrent bronchitis, Arthritis OMIM:216950
Immunodeficiency 104
Pneumonia, Chronic mucocutaneous candidiasis, Eczematoid dermatitis, Recurrent otitis media, Otit... OMIM:608971
Undifferentiated Pleomorphic Sarcoma
Soft tissue sarcoma, Weight loss, Abnormal peritoneum morphology ORPHA:2023
Tumor Predisposition Syndrome 1
Cutaneous melanoma, Meningioma, Malignant mesothelioma, Lung adenocarcinoma, Uveal melanoma, Rena... OMIM:614327
Immunodeficiency 40
Focal active colitis, Recurrent pneumonia, Eosinophilic granuloma, Recurrent otitis media, Inters... OMIM:616433
Idiopathic Non-Lupus Full-House Nephropathy
Acute kidney injury, Abnormal glomerular mesangium morphology, Renal insufficiency, Skin rash, Gl... ORPHA:567544
Tumor Predisposition Syndrome 4
Glioma, Meningioma, Stomach cancer, Sarcoma, Breast carcinoma OMIM:609265
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Extramedullary hematopoiesis, Leukopenia, Splenomegaly, Hepatomegaly, Thrombocytopenia, Neutropen... OMIM:615285
Complement Component 4A Deficiency
Glomerulonephritis, Systemic lupus erythematosus OMIM:614380
Autoinflammation, Antibody Deficiency, And Immune Dysregulation
Bronchiolitis, Interstitial pneumonitis, Enterocolitis, Recurrent sinopulmonary infections, Decre... OMIM:614878
Activated Pi3K-Delta Syndrome
Pneumonia, Recurrent tonsillitis, Lymphoma, Recurrent otitis media, Autoimmunity, Splenomegaly, C... ORPHA:397596
Nephrotic Syndrome, Type 23
Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Steroid-resistant nephroti... OMIM:619201
Adult-Onset Still Disease
Neutrophilia, Bone marrow hypocellularity, Hepatitis, Interstitial pneumonitis, Skin rash, Spleno... ORPHA:829
Autoimmune Lymphoproliferative Syndrome, Type Iia
Follicular hyperplasia, Antiphospholipid antibody positivity, Hepatomegaly, Nephrotic syndrome, A... OMIM:603909
Nphp3-Related Meckel-Like Syndrome
Abnormal biliary tract morphology, Abnormal liver parenchyma morphology, Abnormality of the pancr... ORPHA:3032
Li-Fraumeni Syndrome
Choriocarcinoma, Acute leukemia, Osteosarcoma, Prostate cancer, Nephroblastoma, Lung adenocarcino... OMIM:151623
Igg4-Related Kidney Disease
Chronic kidney disease, Inflammatory abnormality of the skin, Lymphadenitis, Arteritis, Urethriti... ORPHA:449395
Rheumatoid arthritis, Aplastic anemia, Anti-acetylcholine receptor antibody positivity, Ulcerativ... ORPHA:99867
Interstitial Lung Disease 1
Usual interstitial pneumonia, Intralobular septal thickening, Interlobular septal thickening, Ele... OMIM:619611
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 4B
Neonatal death, Pulmonary hypoplasia OMIM:615228
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Enlarged tonsils, Large for gestational age, Truncal obesity, Increased hepatic glycogen content ORPHA:293964
Melanoma-Pancreatic Cancer Syndrome
Pancreatic adenocarcinoma, Oropharyngeal squamous cell carcinoma, Melanoma, Squamous cell carcino... OMIM:606719
Immunodeficiency 91 And Hyperinflammation
Recurrent pneumonia, Elevated circulating hepatic transaminase concentration, Abnormal pulmonary ... OMIM:619644
Nephrotic Syndrome, Type 10
Minimal change glomerulonephritis, Nephrotic syndrome, Steroid-resistant nephrotic syndrome, Podo... OMIM:615861
C3 Glomerulopathy
Chronic kidney disease, Acute kidney injury, Glomerular extracapillary hypercellularity, Stage 5 ... ORPHA:329918
Mosaic Variegated Aneuploidy Syndrome 4
Abnormality of chromosome stability OMIM:620153
Autoimmune Hepatitis
Antineutrophil antibody positivity, Inflammation of the large intestine, Ascites, Hepatocellular ... ORPHA:2137
Desmoplastic Small Round Cell Tumor
Ascites, Anemia, Cachexia, Weight loss, Lymphadenopathy, Testicular neoplasm, Abnormal peritoneum... ORPHA:83469
Autoimmune Lymphoproliferative Syndrome
Neoplasm of the skin, Systemic lupus erythematosus, Lymphopenia, Hypersplenism, Decreased proport... ORPHA:3261
Renal Hypodysplasia/Aplasia 4
Pulmonary hypoplasia OMIM:619887
Immunodeficiency 75 With Lymphoproliferation
Lymphoma, Hepatosplenomegaly, Follicular hyperplasia, Decreased proportion of class-switched memo... OMIM:619126
Renal Hypodysplasia/Aplasia 2
Pulmonary hypoplasia OMIM:615721
Congenital Membranous Nephropathy Due To Fetomaternal Anti-Neutral Endopeptidase Alloimmunization
Nephrotic syndrome, Renal insufficiency, Glomerulonephritis, Glomerular deposits ORPHA:69063
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Hepatitis, Eczematoid dermatitis, Decreased FOXP3-expressing T cell count, Anemia, Eosinophilia, ... OMIM:304790
Ras-Associated Autoimmune Leukoproliferative Disorder
Lymphoma, Lymphoproliferative disorder, Pancytopenia, Autoimmunity, Splenomegaly, Follicular hype... OMIM:614470
Immunodeficiency, Common Variable, 1
Pneumonia, Recurrent pneumonia, Abnormal T cell count, Recurrent otitis media, Recurrent bronchit... OMIM:607594
Fanconi Renotubular Syndrome 5
Aminoaciduria, Glycosuria, Emphysema, Stage 5 chronic kidney disease, Lung adenocarcinoma, Protei... OMIM:618913
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Lymphoma, Recurrent otitis media, Lymphoproliferative disorder, Decreased CD4:CD8 ratio, Decrease... OMIM:300853
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10
Neural tube defect OMIM:615041
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Recurrent upper respiratory tract infections, Inflammatory abnormality of the skin, Recurrent pne... ORPHA:277
Erythroleukemia, Familial, Susceptibility To
Erythroid hyperplasia, Splenomegaly, Hepatomegaly, Anemia, Acute myeloid leukemia, Thrombocytopen... OMIM:133180
Reticulum Cell Sarcoma
Sarcoma, Neoplasm OMIM:267730
Tn Polyagglutination Syndrome
Abnormal erythrocyte morphology, Autoimmunity OMIM:300622
Autoinflammatory-Pancytopenia Syndrome
Cholestatic liver disease, Hepatic fibrosis, Granuloma, Hemophagocytosis, Hepatosplenomegaly, Pan... OMIM:619858
Ollier Disease
Neoplasm, Lymphangioma, Hemangioma, Anemia, Sarcoma, Multiple enchondromatosis, Visceral angiomat... ORPHA:296
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Fluctuating splenomegaly, Recurrent otitis media, Facial papilloma, Autoimmune hemolytic anemia, ... OMIM:619220
Neoplasm, Interstitial pneumonitis, Pleural effusion, Multiple pulmonary cysts, Acute infectious ... ORPHA:723
Focal Segmental Glomerulosclerosis 10
Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Stage 5 chronic kidney dis... OMIM:256020
Immunodeficiency 64 With Lymphoproliferation
Increased proportion autoreactive unresponsive CD21-/low B cells, Abnormal CD4:CD8 ratio, Anti-th... OMIM:618534
Immunodeficiency 27A
Pneumonia, Hepatosplenomegaly, Thrombocytosis, Leukocytosis, Splenomegaly, Increased inflammatory... OMIM:209950
Masp2 Deficiency
Recurrent pneumonia, Ulcerative colitis, Systemic lupus erythematosus OMIM:613791
Fanconi Anemia, Complementation Group D1
Acute myeloid leukemia, T-cell acute lymphoblastic leukemias, Chromosomal breakage induced by cro... OMIM:605724
Immunodeficiency, Common Variable, 5
Antinuclear antibody positivity, Recurrent respiratory infections, Abnormal T cell count, Abnorma... OMIM:613495
Lethal Congenital Contracture Syndrome 11
Intrauterine growth retardation, Pulmonary hypoplasia OMIM:617194
Combined Oxidative Phosphorylation Deficiency 8
Neonatal death, Death in childhood, Death in infancy, Pulmonary hypoplasia OMIM:614096
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation
Herpes simplex encephalitis, Recurrent otitis media, Hepatosplenomegaly, Lymphadenopathy, Increas... OMIM:618982
Leukocyte Adhesion Deficiency, Type Iii
Extramedullary hematopoiesis, Abnormal lymph node morphology, Hepatosplenomegaly, Leukocytosis, S... OMIM:612840
Isolated Agammaglobulinemia
Pneumonia, Abnormality of neutrophils, Abnormal lymphocyte morphology, Autoimmunity, Otitis media... ORPHA:229717
Immunodeficiency, Common Variable, 2
Recurrent pneumonia, Abnormal T cell count, Lymphoma, Recurrent otitis media, Autoimmunity, Neopl... OMIM:240500
Allergic rhinitis, Abnormal CD4:CD8 ratio, Lymphopenia, Esophagitis, Decreased proportion of CD4-... ORPHA:443811
Immunodeficiency 48
Pneumonia, Eczematoid dermatitis, Abnormal B cell count, Splenomegaly, Impaired lymphocyte transf... OMIM:269840
Asbestos Intoxication
Abnormal pulmonary interstitial morphology, Atelectasis, Interlobular septal thickening, Malignan... ORPHA:2302
Mitochondrial Complex I Deficiency, Nuclear Type 35
Neonatal death, Intrauterine growth retardation, Pulmonary hypoplasia OMIM:619003
Combined Immunodeficiency, X-Linked
Pneumonia, Abnormal T cell count, Decreased proportion of CD8-positive T cells, Decreased proport... OMIM:312863
Glycoprotein Storage Disease
Splenomegaly OMIM:232900
Surfactant Metabolism Dysfunction, Pulmonary, 2
Recurrent pneumonia, Intralobular septal thickening, Spontaneous pneumothorax, Intraalveolar phos... OMIM:610913
Dyskeratosis Congenita, Autosomal Dominant 1
Bone marrow hypocellularity, Aplastic anemia, Increased mean corpuscular volume, Squamous cell ca... OMIM:127550
Nephrotic Syndrome, Type 16
Proteinuria, Minimal change glomerulonephritis, Nephrotic syndrome, Hematuria OMIM:617783
Immunodeficiency 52
Recurrent pneumonia, Increased proportion of gamma-delta T cells, Lymphopenia, Abnormal B cell co... OMIM:617514
Nodular Lymphocyte Predominant Hodgkin Lymphoma
Lymphoma, Splenomegaly, B-cell lymphoma, Weight loss, Lymphadenopathy, Hepatomegaly, Breast carci... ORPHA:86893
Immunodeficiency 54
Chromosome breakage, Reduced natural killer cell count, Lymphoproliferative disorder, Splenomegal... OMIM:609981
Lung Cancer
Non-small cell lung carcinoma, Lung adenocarcinoma, Alveolar cell carcinoma OMIM:211980
Spina Bifida-Hypospadias Syndrome
Spinal dysraphism, Spina bifida ORPHA:3176
Rhabdoid Tumor
Neoplasm of the liver, Anemia, Weight loss, Lymphadenopathy, Thrombocytopenia, Renal neoplasm, Sa... ORPHA:69077
Fanconi Anemia, Complementation Group T
Acute myeloid leukemia, Chromosomal breakage induced by crosslinking agents OMIM:616435
Primary Sjögren Syndrome
Arteritis, Lymphopenia, Chronic hepatitis, Decreased proportion of CD4-positive helper T cells, L... ORPHA:289390
Immunodeficiency 16
Pancytopenia, Coombs-positive hemolytic anemia, Splenomegaly, Kaposi's sarcoma OMIM:615593
Thrombocytopenia With Elevated Serum Iga And Renal Disease
Hematuria, Glomerulonephritis, Thrombocytopenia OMIM:314000
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant
Pneumonia, Atopic dermatitis, Recurrent upper respiratory tract infections, Abnormally low T cell... OMIM:618806
C1Q Deficiency 2
Discoid lupus rash, Atelectasis, Recurrent otitis media, Malar rash, Chilblains, Anti-Sm antibody... OMIM:620321
Nephrotic Syndrome, Type 15
Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidney disease, Steroid-resistant... OMIM:617609
Immunodeficiency 105
Reduced natural killer cell count, Absence of lymph node germinal center, Lymphopenia, Hepatosple... OMIM:619924
Ewing Sarcoma
Ewing sarcoma OMIM:612219
Proteasome-Associated Autoinflammatory Syndrome 5
Hepatomegaly, Failure to thrive in infancy, Splenomegaly OMIM:619175
Renal-Hepatic-Pancreatic Dysplasia 2
Malformation of the hepatic ductal plate, Hepatic fibrosis, Abnormal lung lobation, Cholestasis, ... OMIM:615415
Neutropenia, Severe Congenital, 9, Autosomal Dominant
Splenomegaly OMIM:619813
Autoinflammation, Immune Dysregulation, And Eosinophilia
Atopic dermatitis, Hepatosplenomegaly, Hepatic cysts, Colonic eosinophilia, Eosinophilia, Membran... OMIM:618999
Myofibromatosis, Infantile, 1
Myofibromatosis, Fibroma OMIM:228550
Lipodystrophy, Partial, Acquired, Susceptibility To
Hepatic steatosis, Polycystic ovaries, Proteinuria, Hematuria, Membranoproliferative glomerulonep... OMIM:608709
Allergic rhinitis, Decreased eosinophil count, Autoimmunity OMIM:131430
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant
Splenomegaly, Recurrent sinopulmonary infections, Lymphadenopathy, Increased proportion of transi... OMIM:615513
Immunodeficiency 76
Recurrent pneumonia, Lymphopenia, Splenomegaly, Recurrent bronchiolitis, B-cell lymphoma, Lymphad... OMIM:619164
Pemphigus Vulgaris, Familial
Autoimmunity, Autoimmune antibody positivity OMIM:169610
Intrauterine Growth Retardation With Increased Mitomycin C Sensitivity
Abnormality of chromosome stability OMIM:600546
Bazex Syndrome
Anemia, Liposarcoma, Lung adenocarcinoma, Neoplasm ORPHA:166113
Immunodeficiency With Hyper-Igm, Type 4
Recurrent upper respiratory tract infections, Absence of lymph node germinal center, Osteomyeliti... OMIM:608184
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To
Bone marrow hypocellularity, Eczematoid dermatitis, Lymphoma, Systemic lupus erythematosus, Leuko... OMIM:616871
Cholelithiasis, Extramedullary hematopoiesis, Microcytic anemia, Hemoglobin Barts, Hepatosplenome... ORPHA:846
Acute Radiation Syndrome
Inflammatory abnormality of the skin, Lymphopenia, Interstitial pneumonitis, Thrombocytopenia, Gr... ORPHA:454831
Hypereosinophilic Syndrome, Idiopathic
Hepatomegaly, Eosinophilia, Myeloproliferative disorder, Splenomegaly OMIM:607685
Primary Myelofibrosis
Extramedullary hematopoiesis, Hepatosplenomegaly, Pancytopenia, Leukocytosis, Splenomegaly, Throm... ORPHA:824
Immunoglobulin A Deficiency 2
Abnormal lymphocyte morphology, Autoimmunity, Recurrent sinopulmonary infections OMIM:609529
Autoimmune Disease
Autoimmunity, Autoimmune antibody positivity OMIM:109100
Surfactant Metabolism Dysfunction, Pulmonary, 3
Crazy paving pattern, Reticular pattern on pulmonary HRCT, Usual interstitial pneumonia, Intraalv... OMIM:610921
Felty Syndrome
Synovitis, Neutropenia, Recurrent pharyngitis, Hepatomegaly, Chronic otitis media, Abnormal lymph... ORPHA:47612
Larsen-Like Syndrome, Lethal Type
Neonatal death, Pulmonary hypoplasia OMIM:245650
Transcobalamin Deficiency
Acute kidney injury, Abnormality of chromosome stability, Methylmalonic aciduria, Lymphopenia, Pa... ORPHA:859
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 1, Autosomal Recessive
Lymphocytic interstitial pneumonia OMIM:245590
Hydrops Fetalis, Nonimmune, With Gracile Bones And Dysmorphism
Pulmonary hypoplasia OMIM:613124
Microphthalmia, Syndromic 12
Neonatal death, Pulmonary hypoplasia OMIM:615524
Nijmegen Breakage Syndrome-Like Disorder
Chromosomal breakage induced by ionizing radiation OMIM:613078
Mesomelic Dwarfism-Cleft Palate-Camptodactyly Syndrome
Pulmonary hypoplasia, Abnormal lung lobation ORPHA:2631
Combined Immunodeficiency Due To Zap70 Deficiency
Lymphadenitis, Abnormal lymph node morphology, Decreased proportion of CD8-positive T cells, Hepa... ORPHA:911
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type
Short stature, Splenomegaly, Aplasia/Hypoplasia of the lungs, Hepatomegaly ORPHA:2204
Recurrent pneumonia, Splenomegaly, Trimethylaminuria, Neutropenia, Anemia OMIM:602079
Immunodeficiency 36 With Lymphoproliferation
Recurrent upper respiratory tract infections, Lymphopenia, Autoimmunity, Splenomegaly, Chronic ly... OMIM:616005
Lymphoid Interstitial Pneumonia
Lymphocytic interstitial pneumonia OMIM:247610
Immunodeficiency 7
Recurrent otitis media, Autoimmunity, Hypereosinophilia, Splenomegaly, Autoimmune hemolytic anemi... OMIM:615387
Immunodeficiency 23
Allergic rhinitis, Chronic mucocutaneous candidiasis, Eczematoid dermatitis, Lymphopenia, Abscess... OMIM:615816
Omenn Syndrome
Pneumonia, Lymphoma, Abnormal lymphocyte morphology, Autoimmunity, Leukocytosis, Splenomegaly, He... ORPHA:39041
Nut Midline Carcinoma
Ewing sarcoma, Neoplasm, Oropharyngeal squamous cell carcinoma, Pancreatoblastoma, Squamous cell ... ORPHA:443167
Maturity-Onset Diabetes Of The Young, Type 11
Obesity, Overweight OMIM:613375
Immunodeficiency 113 With Autoimmunity And Autoinflammation
Minimal change glomerulonephritis, Intraalveolar phospholipid accumulation, Hepatitis, Eczematoid... OMIM:620565
Neural Tube Defects, Folate-Sensitive
Spinal dysraphism OMIM:601634
Fanconi Anemia, Complementation Group S
Chromosome breakage, Ovarian neoplasm, Ovarian carcinoma, Breast carcinoma OMIM:617883
Pauci-Immune Glomerulonephritis
Acute kidney injury, Arteritis, Decreased glomerular filtration rate, Pulmonary hemorrhage, Renal... ORPHA:93126
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Hepatomegaly, Anemia, Splenomegaly, Persistence of hemoglobin F ORPHA:46532
Xeroderma Pigmentosum, Complementation Group G
Defective DNA repair after ultraviolet radiation damage OMIM:278780
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency
Atrophic gastritis, Pneumonia, Inflammation of the large intestine, Recurrent upper respiratory t... ORPHA:436159
Neonatal Alloimmune Neutropenia
Pneumonia, Antineutrophil antibody positivity, Jaundice, Neutropenia in presence of anti-neutropi... ORPHA:464370
Progressive Familial Intrahepatic Cholestasis
Failure to thrive, Cholestasis, Neoplasm, Splenomegaly, Hepatomegaly, Jaundice ORPHA:172
Immunodeficiency 84
B-cell lymphoma, Splenomegaly, B lymphocytopenia OMIM:619437
Scleroderma, Familial Progressive
Chromosome breakage, Abnormality of chromosome stability OMIM:181750
Arteritis, Sacroiliac arthritis, Hypersplenism, Knee osteoarthritis, Glomerulonephritis, Hepatome... ORPHA:1304
Bronchiolitis Obliterans
Pneumonia, Autoimmunity, Respiratory tract infection, Bronchiolitis obliterans, Bronchiectasis ORPHA:1303
Xeroderma Pigmentosum, Complementation Group F
Neoplasm of the skin, Deficient excision of UV-induced pyrimidine dimers in DNA, Squamous cell ca... OMIM:278760
Genetic Steroid-Resistant Nephrotic Syndrome
Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Chronic kidney disease, St... ORPHA:656
Immunodeficiency 62
Decreased proportion of memory B cells, Recurrent upper respiratory tract infections, Increased p... OMIM:618459
Autoimmune Lymphoproliferative Syndrome
Antineutrophil antibody positivity, Platelet antibody positive, Chronic noninfectious lymphadenop... OMIM:601859
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Decreased helper T cell proportion, Pancytopenia, Splenomegaly, Hypersplenism OMIM:183350
Neurodevelopmental Disorder With Spasticity, Hypomyelinating Leukodystrophy, And Brain Abnormalities
Pulmonary hypoplasia OMIM:616531
Neonatal Acute Respiratory Distress Due To Sp-B Deficiency
Intraalveolar phospholipid accumulation, Spontaneous neonatal pneumothorax, Interstitial pneumoni... ORPHA:217563
Igg4-Related Retroperitoneal Fibrosis
Rheumatoid arthritis, Systemic lupus erythematosus, Psoriasiform dermatitis, Hematuria, Deep derm... ORPHA:49041
Schimke Immuno-Osseous Dysplasia
Nephropathy, Minimal change glomerulonephritis, Focal segmental glomerulosclerosis, Bone marrow h... ORPHA:1830
Beta-Thalassemia Intermedia
Cholelithiasis, Proximal tubulopathy, Extramedullary hematopoiesis, Persistence of hemoglobin F, ... ORPHA:231222
Nephrotic Syndrome, Type 6
Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Stage 5 chronic kidney dis... OMIM:614196
Autoinflammation With Episodic Fever And Lymphadenopathy
Recurrent tonsillitis, Microcytic anemia, Splenomegaly, Antinuclear antibody positivity, Lymphade... OMIM:618852
Acquired Ichthyosis
Lymphoma, Neoplasm, Renal insufficiency, Autoimmunity, Sarcoma, Recurrent skin infections, Multip... ORPHA:454
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Recurrent pneumonia, Recurrent tonsillitis, Lymphadenitis, Eczematoid dermatitis, Granuloma, Lymp... OMIM:618935
Abnormal eosinophil morphology, Anti-transcription intermediary factor-1gamma antibody positivity... ORPHA:221
Hemoglobin H Disease
HbH hemoglobin, Splenomegaly, Hepatomegaly, Reduced alpha/beta synthesis ratio, Hemolytic anemia OMIM:613978
Immunodeficiency 102
Nodular regenerative hyperplasia of liver, Recurrent upper respiratory tract infections, Reduced ... OMIM:301082
Combined Immunodeficiency Due To Dock8 Deficiency
Pneumonia, Atopic dermatitis, Chronic otitis media, Verrucae, Squamous cell carcinoma of the vulv... ORPHA:217390
Lipodystrophy, Partial, Acquired, With Low Complement Component C3, With Or Without Glomerulonephritis
Proteinuria, Hematuria, Nephrotic syndrome, Membranoproliferative glomerulonephritis OMIM:613913
Gamma-Heavy Chain Disease
Rheumatoid arthritis, Abnormal lymphocyte morphology, Autoimmunity, Splenomegaly, Skin rash, Auto... ORPHA:100026
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase
Recurrent pancreatitis, Splenomegaly OMIM:118830
Osteopetrosis, Autosomal Recessive 2
Mandibular osteomyelitis, Extramedullary hematopoiesis, Osteomyelitis, Hepatosplenomegaly, Pancyt... OMIM:259710
Paraneoplastic Pemphigus
Thymoma, B-cell lymphoma, Sarcoma ORPHA:63455
Immunodeficiency, Common Variable, 8, With Autoimmunity
Inflammation of the large intestine, Recurrent otitis media, Pancytopenia, Erythema nodosum, Auto... OMIM:614700
Cortical Dysplasia, Complex, With Other Brain Malformations 9
Short stature, Pulmonary hypoplasia OMIM:618174
Immunodeficiency 112
Reduced natural killer cell count, Chronic mucocutaneous candidiasis, Increased T cell count, Dec... OMIM:620449
Immunodeficiency 109 With Lymphoproliferation
Pancytopenia, Splenomegaly, Recurrent sinusitis, Hodgkin lymphoma, Generalized lymphadenopathy, A... OMIM:620282
Autosomal Dominant Severe Congenital Neutropenia
Pneumonia, Antineutrophil antibody positivity, Periodontitis, Aplastic anemia, Lymphopenia, Recur... ORPHA:486
Elevated circulating hepatic transaminase concentration, Abnormality of chromosome stability, Apl... ORPHA:100
Chronic Visceral Acid Sphingomyelinase Deficiency
Cholelithiasis, Hepatic failure, Decreased liver function, Systemic lupus erythematosus, Hyperspl... ORPHA:77293
Microcephaly-Glomerulonephritis-Marfanoid Habitus Syndrome
Chronic kidney disease, Glomerulonephritis ORPHA:2172
Chilblain Lupus
Discoid lupus rash, Inflammatory abnormality of the skin, Systemic lupus erythematosus, Chronic m... ORPHA:90280
Infantile Myofibromatosis
Neoplasm of the skin, Chondrocalcinosis, Benign neoplasm of the central nervous system, Fibroma, ... ORPHA:2591
Idiopathic Steroid-Resistant Nephrotic Syndrome
Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Acute kidney injury, Stage... ORPHA:567548
Complement Component C1S Deficiency
Hashimoto thyroiditis, Hepatitis, Systemic lupus erythematosus OMIM:613783
Renal-Hepatic-Pancreatic Dysplasia 1
Malformation of the hepatic ductal plate, Hepatic fibrosis, Biliary cirrhosis, Polysplenia, Chole... OMIM:208540
Cystic Echinococcosis
Cholestatic liver disease, Peritoneal abscess, Pulmonary cyst, Abnormality of the testis size, El... ORPHA:400
Renal Tubular Dysgenesis
Pulmonary hypoplasia ORPHA:3033
Coenzyme Q10 Deficiency, Primary, 8
Postnatal growth retardation, Intrauterine growth retardation, Pulmonary hypoplasia OMIM:616733
Galloway-Mowat Syndrome 2, X-Linked
Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Stage 5 chronic kidney dis... OMIM:301006
Adiposis Dolorosa
Painful subcutaneous lipomas, Obesity OMIM:103200
Obesity, Increased waist to hip ratio OMIM:601665
Immunodeficiency 32B
Pneumonia, Neutrophilia, Impaired oxidative burst, Splenomegaly, Hepatomegaly, Eosinophilia, Mono... OMIM:226990
Microcephaly, Growth Restriction, And Increased Sister Chromatid Exchange 2
Increased susceptibility to spontaneous sister chromatid exchange OMIM:618097
Immunodeficiency 60 And Autoimmunity
Decreased proportion of memory B cells, Bronchiectasis, Pancytopenia, Splenomegaly, Crohn's disea... OMIM:618394
Tyrosinemia Type 1
Hepatomegaly, Splenomegaly, Hepatocellular carcinoma ORPHA:882
Follicular Lymphoma
Lymphoma, Splenomegaly, Weight loss, Lymphadenopathy, Abnormal peritoneum morphology, Mediastinal... ORPHA:545
Simple Cryoglobulinemia
Nephritis, Monoclonal immunoglobulin M proteinemia, Abnormal lung morphology, Rheumatoid factor p... ORPHA:91139
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Increased mean corpuscular volume, Extramedullary hematopoiesis, Decreased liver function, Ascite... OMIM:617021
Fanconi Anemia, Complementation Group J
Chromosomal breakage induced by crosslinking agents OMIM:609054
Lymphoproliferative Syndrome 1
Hemophagocytosis, Pancytopenia, Autoimmunity, Pleural effusion, Splenomegaly, Autoimmune hemolyti... OMIM:613011
Spermatogenic Failure, X-Linked, 1
Obesity OMIM:305700
Matthew-Wood Syndrome
Annular pancreas, Intrauterine growth retardation, Abnormal spleen morphology, Abnormal lung morp... ORPHA:2470
Systemic Lupus Erythematosus
Discoid lupus rash, Antineutrophil antibody positivity, Anti-La/SS-B antibody positivity, Leukope... ORPHA:536
Hereditary Spherocytosis
Spontaneous hemolytic crises, Cholelithiasis, Increased mean corpuscular hemoglobin concentration... ORPHA:822
Systemic Lupus Erythematosus 17
Myelitis, Anti-aquaporin 4 antibody positivity, Systemic lupus erythematosus, Lymphopenia, Leukop... OMIM:301080
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism
Jaundice, Splenomegaly, Nonspherocytic hemolytic anemia OMIM:206400
Anencephaly 1
Anencephaly, Spina bifida OMIM:206500
Alpha-Thalassemia-Myelodysplastic Syndrome
Acute leukemia, HbH hemoglobin, Microcytic anemia, Splenomegaly, Neutropenia, Thrombocytopenia, M... ORPHA:231401
Maffucci Syndrome
Pituitary adenoma, Chondrosarcoma, Neoplasm of the parathyroid gland, Breast carcinoma, Astrocyto... ORPHA:163634
Sarcoma, Synovial
Synovial sarcoma OMIM:300813
Alveolar Soft Part Sarcoma
Alveolar soft part sarcoma OMIM:606243
Arthrogryposis Multiplex Congenita 1, Neurogenic, With Myelin Defect
Stillbirth, Pulmonary hypoplasia OMIM:617468
Encephalopathy Due To Prosaposin Deficiency
Hepatomegaly, Splenomegaly ORPHA:139406
Obesity Due To Prohormone Convertase I Deficiency
Failure to thrive, Cholestasis, Obesity, Childhood-onset truncal obesity, Increased adipose tissue ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Failure to thrive, Cholestasis, Obesity, Childhood-onset truncal obesity, Increased adipose tissue ORPHA:71526
Gray Platelet Syndrome
Myelodysplasia, Splenomegaly, Thrombocytopenia ORPHA:721
Mercury Poisoning
Acute kidney injury, Interstitial pneumonitis ORPHA:330021
Q Fever
Hepatosplenomegaly, Hematuria, Antiphospholipid antibody positivity, Lupus anticoagulant, Hepatom... ORPHA:781
Caspase 8 Deficiency
Pneumonia, Eczematoid dermatitis, Decreased CD4:CD8 ratio, Splenomegaly, Recurrent sinopulmonary ... OMIM:607271
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Hemophagocytosis, Hepatosplenomegaly, Pancytopenia, Hodgkin lymphoma, Acute myeloid leukemia, Hem... ORPHA:158057
Selective Igm Deficiency
Allergic rhinitis, Rheumatoid arthritis, Lymphadenitis, Systemic lupus erythematosus, Decreased p... ORPHA:331235
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia
Recurrent pneumonia, Eczematoid dermatitis, Hypersegmentation of neutrophil nuclei, Lymphopenia, ... OMIM:617780
Immunodeficiency 13
Recurrent upper respiratory tract infections, Recurrent pneumonia, Recurrent otitis media, Lympho... OMIM:615518
Complement Factor I Deficiency
Recurrent urinary tract infections, Recurrent otitis media, Pyelonephritis, Renal insufficiency, ... OMIM:610984
Lethal Congenital Contracture Syndrome 1
Neonatal death, Pulmonary hypoplasia OMIM:253310
Hypertriglyceridemia, Transient Infantile
Hepatic fibrosis, Failure to thrive, Hepatic steatosis, Splenomegaly, Hepatomegaly OMIM:614480
Persistent Polyclonal B-Cell Lymphocytosis
Hepatomegaly, Lymphocytosis, Splenomegaly OMIM:606445
Diffuse Alveolar Hemorrhage
Antineutrophil antibody positivity, Autoimmunity, Leukocytosis, Hematuria, Proteinuria, Antiphosp... ORPHA:90060
Galactose Epimerase Deficiency
Hepatomegaly, Jaundice, Weight loss, Splenomegaly ORPHA:79238
Bacterial Toxic-Shock Syndrome
Abscess, Glomerulonephritis, Recurrent skin infections, Osteomyelitis, Renal insufficiency, Myosi... ORPHA:36234
Membranoproliferative Glomerulonephritis, X-Linked
Membranoproliferative glomerulonephritis OMIM:305800
Fragile X Syndrome
Macroorchidism, postpubertal, Folate-dependent fragile site at Xq28, Congenital macroorchidism OMIM:300624
Alpha-Heavy Chain Disease
Lymphoma, Ascites, Splenomegaly, Anemia, Lymphadenopathy, Hepatomegaly ORPHA:100025
Pneumonia, Brain abscess, Cutaneous abscess, Cervical lymphadenopathy, Abnormal nasopharyngeal ad... ORPHA:3392
Leukocyte Adhesion Deficiency
Lymphocytic interstitial pneumonia, Impaired neutrophil chemotaxis, Acute myeloid leukemia, Glome... ORPHA:2968
Triglyceride Storage Disease, Type Ii
Obesity OMIM:190430
Prader-Willi syndrome (Type 1)
Truncal obesity DECIPHER:14
Prader-Willi Syndrome (Type 2)
Truncal obesity DECIPHER:53
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome
Pulmonary hypoplasia ORPHA:2141
Common Variable Immunodeficiency
Pneumonia, Bronchiectasis, Lymphoma, Emphysema, Lymphopenia, Abnormality of the liver, Recurrent ... ORPHA:1572
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome
Intrauterine growth retardation, Splenomegaly, Pulmonary hypoplasia ORPHA:3035
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive
Pneumonia, Otitis media, Purulent rhinitis, Arthritis, B lymphocytopenia, Conjunctivitis, T lymph... OMIM:601457
Wolman Disease
Hepatomegaly, Splenomegaly, Failure to thrive OMIM:620151
Pallister-Hall-Like Syndrome
Short stature, Occipital encephalocele, Death in infancy, Pulmonary hypoplasia OMIM:241800
Hemoglobin D Disease
Reduced beta/alpha synthesis ratio, Reduced hemoglobin A, Imbalanced hemoglobin synthesis, Spleno... ORPHA:90039
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Recurrent pneumonia, Abnormal CD4:CD8 ratio, Recurrent aphthous stomatitis, Splenomegaly, Abscess... OMIM:150550
Sandhoff Disease
Hepatomegaly, Splenomegaly, Failure to thrive ORPHA:796
Congenital Syphilis
Pneumonia, Keratitis, Extramedullary hematopoiesis, Hepatosplenomegaly, Synovitis, Prolonged neon... ORPHA:499009
Spondylospinal Thoracic Dysostosis
Pulmonary hypoplasia OMIM:601809
Proteus Syndrome
Cerebriform connective tissue nevus, Splenomegaly, Multiple lipomas, Hemangioma, Lipoma, Lymphang... OMIM:176920
Acquired Partial Lipodystrophy
Autoimmunity, Hepatic steatosis, Proteinuria, Glomerulopathy, Lymphocytosis, Microscopic hematuria ORPHA:79087
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Abnormally low T cell receptor excision circle level, Recurrent pneumonia, Lymphadenitis, Recurre... OMIM:618986
Lipodystrophy, Congenital Generalized, Type 3
Generalized lipodystrophy, Hepatosplenomegaly, Reduced subcutaneous adipose tissue, Hepatic steat... OMIM:612526
Purine Nucleoside Phosphorylase Deficiency
Pneumonia, Decreased urinary urate, Recurrent upper respiratory tract infections, Lymphoma, Recur... OMIM:613179
Severe Combined Immunodeficiency, X-Linked
Pneumonia, Recurrent pneumonia, Skin rash, Hypoplasia of the thymus, Impaired lymphocyte transfor... OMIM:300400
Lymphoproliferative Syndrome, X-Linked, 2
Inflammation of the large intestine, Folliculitis, Aplastic anemia, Hepatitis, Hemophagocytosis, ... OMIM:300635
Systemic-Onset Juvenile Idiopathic Arthritis
Autoimmunity, Pleural effusion, Skin rash, Splenomegaly, Hepatomegaly, Lymphadenopathy, Arthritis... ORPHA:85414
Fanconi Anemia, Complementation Group O
Chromosome breakage, Cryptorchidism OMIM:613390
Meckel Syndrome, Type 6
Hepatic fibrosis, Occipital encephalocele, Absent gallbladder, Hepatic cysts, Cystic liver diseas... OMIM:612284
Bardet-Biedl Syndrome 11
Obesity OMIM:615988
Nephrotic Syndrome, Type 11
Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, IgA deposition in the glom... OMIM:616730
Congenital Bile Acid Synthesis Defect Type 2
Giant cell hepatitis, Hepatic failure, Elevated circulating hepatic transaminase concentration, E... ORPHA:79303
Immunodeficiency 97 With Autoinflammation
Hemophagocytosis, Recurrent otitis media, Lymphopenia, Hepatosplenomegaly, Decreased proportion o... OMIM:619802
Immunodeficiency, Common Variable, 12, With Autoimmunity
Atrophic gastritis, Recurrent pneumonia, Autoimmune hemolytic anemia, Recurrent sinusitis, Recurr... OMIM:616576
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency
Inflammation of the large intestine, Chronic mucocutaneous candidiasis, Eczematoid dermatitis, Re... ORPHA:98813
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Hepatic fibrosis, Periportal fibrosis, Portal hypertension, Hepatic cysts, Splenomegaly, Neonatal... OMIM:263200
Thumb Stiffness-Brachydactyly-Intellectual Disability Syndrome
Obesity ORPHA:1078
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Anemia, Splenomegaly, Thrombocytopenia, Abnormal hemoglobin ORPHA:231393
Hemophagocytosis, Extramedullary hematopoiesis, Splenomegaly, Hepatomegaly, Myeloproliferative di... OMIM:254450
Alopecia Areata 1
Autoimmunity OMIM:104000
Combined Immunodeficiency Due To Crac Channel Dysfunction
Pneumonia, Autoimmunity, Neoplasm, Splenomegaly, Lymphadenopathy, Thrombocytopenia, Hepatomegaly,... ORPHA:169090
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Atrophic gastritis, Recurrent upper respiratory tract infections, Eczematoid dermatitis, Lymphope... OMIM:616100
Systemic Sclerosis
Chronic kidney disease, Barrett esophagus, Acute kidney injury, Anti-centromere antibody positivi... ORPHA:90291
Galactosemia Iii
Hepatomegaly, Jaundice, Splenomegaly, Failure to thrive OMIM:230350
Apc-Related Attenuated Familial Adenomatous Polyposis
Osteoma, Fibrosarcoma, Desmoid tumors, Adrenocortical adenoma, Medulloblastoma, Multiple gastric ... ORPHA:247806
Legius Syndrome
Acute monocytic leukemia, Male urethral meatus stenosis, Vestibular schwannoma, Nephroblastoma, N... ORPHA:137605
Radial-Renal Syndrome
Chromosome breakage OMIM:179280
Hashimoto Thyroiditis
Hashimoto thyroiditis, Autoimmune antibody positivity OMIM:140300
Bardet-Biedl Syndrome 14
Obesity OMIM:615991
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Recurrent upper respiratory tract infections, Hemophagocytosis, Hepatosplenomegaly, Splenomegaly,... OMIM:613101
Pneumonia ORPHA:1083
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly
Neonatal death, Hydranencephaly, Stillbirth, Pulmonary hypoplasia OMIM:236500
Atelosteogenesis, Type Ii
Stillbirth, Death in infancy, Pulmonary hypoplasia OMIM:256050
Unclassified Myelodysplastic Syndrome
Bone marrow hypocellularity, Autoimmunity, Leukocytosis, Myelodysplasia, Acute myeloid leukemia, ... ORPHA:98827
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Pneumonia, Recurrent pneumonia, Inflammatory abnormality of the skin, Chronic mucocutaneous candi... OMIM:102700
Lymphatic Filariasis
Urethral obstruction, Lymphadenitis, Epididymitis, Hypereosinophilia, Abnormal scrotum morphology... ORPHA:2035
Dominant Beta-Thalassemia
Hepatic fibrosis, Reduced hemoglobin A, Extramedullary hematopoiesis, Persistence of hemoglobin F... ORPHA:231226
Beta-Thalassemia, Dominant Inclusion Body Type
Persistence of hemoglobin F, Microcytic anemia, Splenomegaly, Erythrocyte inclusion bodies, Hepat... OMIM:603902
Bardet-Biedl Syndrome 13
Obesity OMIM:615990
Immunodeficiency 11B With Atopic Dermatitis
Pneumonia, Atopic dermatitis, Ulcerative colitis, Colonic eosinophilia, Eosinophilia, Bronchiectasis OMIM:617638
Galloway-Mowat Syndrome 7
Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Eczematoid dermatitis, IgA... OMIM:618348
Isolated Congenital Hypoglossia/Aglossia
Hamartoma, Aspiration pneumonia ORPHA:141152
Lethal Hemolytic Anemia-Genital Anomalies Syndrome
Anemia, Splenomegaly, Aplasia/Hypoplasia of the lungs ORPHA:1046
T-Cell Lymphoma, Subcutaneous Panniculitis-Like
Hemophagocytosis, Subcutaneous panniculitis-like T-cell lymphoma, Pancytopenia, Autoimmunity, Spl... OMIM:618398
Systemic Lupus Erythematosus, Susceptibility To, 6
Abnormal renal physiology, Systemic lupus erythematosus, Malar rash, Antinuclear antibody positiv... OMIM:609939
Yellow Nail Syndrome
Biliary tract neoplasm, Neoplasm, Hypoplasia of lymphatic vessels, Renal neoplasm, Sarcoma, Neopl... ORPHA:662
Facioscapulohumeral Muscular Dystrophy 3, Digenic
Aspiration pneumonia OMIM:619477
Hemolytic Disease Of Fetus And Newborn, Rh-Induced
Hepatomegaly, Fetal ascites, Splenomegaly OMIM:619462
Immunodeficiency 110 With Lymphoproliferation
Recurrent upper respiratory tract infections, Recurrent pneumonia, Verrucae, Chronic mucocutaneou... OMIM:614868
Anti-Glomerular Basement Membrane Disease
Autoimmunity, Renal insufficiency, Proteinuria, Hematuria, Glomerulopathy, Arthritis, Anemia ORPHA:375
Fanconi Anemia, Complementation Group F
Pneumonia, Bone marrow hypocellularity, Renal hypoplasia, Microphallus, Leukopenia, Vesicouretera... OMIM:603467
Simpson-Golabi-Behmel Syndrome, Type 2
Obesity, Inguinal hernia OMIM:300209
Li-Fraumeni Syndrome
Choriocarcinoma, Colon cancer, Stomach cancer, Melanoma, Hodgkin lymphoma, Acute myeloid leukemia... ORPHA:524
Werner Syndrome
Gastrointestinal carcinoma, Chondrocalcinosis, Cutaneous melanoma, Neoplasm of the oral cavity, M... ORPHA:902
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections
Allergic rhinitis, Atopic dermatitis, Recurrent pneumonia, Reduced natural killer cell count, Ecz... OMIM:243700
Hyperbilirubinemia, Shunt, Primary
Erythroid hyperplasia, Splenomegaly, Anemia of inadequate production, Reticulocytosis, Hepatomega... OMIM:237800
Juvenile Arthritis
Antinuclear antibody positivity, Leukocytosis, Skin rash, Thrombocytosis OMIM:618795
Febrile Infection-Related Epilepsy Syndrome
Autoimmunity, Sinusitis ORPHA:163703
Mitochondrial Complex Iv Deficiency, Nuclear Type 16
Chromosomal breakage induced by crosslinking agents OMIM:619060
Insulin Autoimmune Syndrome
Autoimmunity, Systemic lupus erythematosus, Autoimmune antibody positivity, Arthralgia/arthritis ORPHA:411593
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome
Proteinuria, Glomerular sclerosis, Glomerulonephritis, Nephrotic syndrome, Hypospadias OMIM:619428
Immunodeficiency 69
Hemophagocytosis, Failure to thrive, Hepatosplenomegaly, Pancytopenia, Leukocytosis, Splenomegaly... OMIM:618963
X-Linked Intellectual Disability-Hypogonadism-Ichthyosis-Obesity-Short Stature Syndrome
Hernia of the abdominal wall, Obesity ORPHA:3055
X-Linked Agammaglobulinemia
Recurrent pneumonia, Abnormal lung morphology, Hepatitis, Osteomyelitis, Autoimmunity, Neoplasm, ... ORPHA:47
Severe Intellectual Disability-Hypotonia-Strabismus-Coarse Face-Planovalgus Syndrome
Obesity ORPHA:436141
Obesity Due To Melanocortin 4 Receptor Deficiency
Obesity, Childhood-onset truncal obesity, Increased adipose tissue ORPHA:71529
Immunoglobulin A Deficiency 1
Recurrent respiratory infections, Autoimmunity OMIM:137100
Intellectual Developmental Disorder, X-Linked, Syndromic, Wilson-Turner Type
Obesity OMIM:309585
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly
Renal hypoplasia, Stage 5 chronic kidney disease, Proteinuria, Hepatomegaly, Glomerulonephritis, ... OMIM:614376
Ataxia-Pancytopenia Syndrome
Acute myelomonocytic leukemia, Pancytopenia, Abnormal macrophage morphology, Splenomegaly, Hypopl... ORPHA:2585
Bardet-Biedl Syndrome 18
Obesity OMIM:615995
Goodpasture Syndrome
Reticular pattern on pulmonary HRCT, Glomerular crescent formation, Erythrocyte cylindruria, Anti... OMIM:233450
Lig4 Syndrome
Acute leukemia, Abnormality of chromosome stability, Lymphoma, Pancytopenia, Leukocytosis, Crypto... ORPHA:99812
Microphthalmia, Syndromic 9
Severe short stature, Agenesis of pulmonary vessels, Multilobulated spleen, Alveolar capillary dy... OMIM:601186
Postinfectious Vasculitis
Pneumonia, Bacterial endocarditis, Inflammatory abnormality of the skin, Rheumatoid factor positi... ORPHA:48435
Niemann-Pick Disease, Type B
Sea-blue histiocytosis, Splenomegaly, Hepatomegaly, Thrombocytopenia, Anemia, Abnormal pulmonary ... OMIM:607616
Gardner Syndrome
Colon cancer, Ampulla of Vater carcinoma, Hepatoblastoma, Brain neoplasm, Osteoma, Fibrosarcoma, ... ORPHA:79665
Actinic Prurigo
Pyoderma, Cheilitis, Glomerulonephritis OMIM:174770
Achondrogenesis Type 2
Short stature, Pulmonary hypoplasia ORPHA:93296
Spinal Muscular Atrophy With Congenital Bone Fractures 2
Pulmonary hypoplasia OMIM:616867
Alpha-1-Antitrypsin Deficiency
Splenomegaly, Chronic bronchitis, Cirrhosis, Panacinar emphysema, Bronchiectasis, Hepatocellular ... OMIM:613490
Adrenocortical Carcinoma
Increased urinary cortisol level, Abnormality of urine homeostasis, Adrenocortical carcinoma, Lun... ORPHA:1501
Immunodeficiency 98 With Autoinflammation, X-Linked
Bone marrow hypocellularity, Antineutrophil antibody positivity, Hemophagocytosis, Agranulocytosi... OMIM:301078
Dyssegmental Dysplasia, Silverman-Handmaker Type
Severe short stature, Occipital encephalocele, Disproportionate short-limb short stature, Neonata... OMIM:224410
Hypocomplementemic Urticarial Vasculitis
Lymphoma, Emphysema, Ascites, Autoimmunity, Renal insufficiency, Pleural effusion, Episcleritis, ... ORPHA:36412
B-Cell Expansion With Nfkb And T-Cell Anergy
Increased B cell count, Splenomegaly OMIM:616452
Mu-Heavy Chain Disease
Abnormal B cell count, Splenomegaly, Anemia, Weight loss, Lymphadenopathy, Hepatomegaly ORPHA:100024
Lysinuric Protein Intolerance
Hemophagocytosis, Hepatosplenomegaly, Cirrhosis, Glomerulonephritis, Hepatomegaly, Tubulointersti... ORPHA:470
Xeroderma Pigmentosum, Complementation Group E
Basal cell carcinoma, Defective DNA repair after ultraviolet radiation damage, Melanoma, Squamous... OMIM:278740
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency
Allergic rhinitis, Rheumatoid arthritis, Systemic lupus erythematosus, Recurrent otitis media, Ps... ORPHA:183675
Cerebral Dysgenesis, Neuropathy, Ichthyosis, And Palmoplantar Keratoderma Syndrome
Aspiration pneumonia OMIM:609528
Acquired Idiopathic Sideroblastic Anemia
Normocytic anemia, Bone marrow hypocellularity, Megaloblastic erythroid hyperplasia, Hypochromic ... ORPHA:75564
Cernunnos-Xlf Deficiency
Lymphopenia, Autoimmunity, Thrombocytopenia, B lymphocytopenia, Anemia, T lymphocytopenia ORPHA:169079
Chromosome 16P13.3 Deletion Syndrome, Proximal
Facial hemangioma, Obesity, Failure to thrive, Polysplenia OMIM:610543
Classic Hodgkin Lymphoma
Bone marrow hypocellularity, Lymphoma, Neoplasm, Splenomegaly, Weight loss, Lymphadenopathy, Hepa... ORPHA:391
Congenital Disorder Of Glycosylation, Type Iic
Pneumonia, Reduction of neutrophil motility, Bronchiolitis, Periodontitis, Recurrent otitis media... OMIM:266265
Congenital Bile Acid Synthesis Defect Type 1
Failure to thrive, Neonatal cholestatic liver disease, Splenomegaly, Biliary tract abnormality, C... ORPHA:79301
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Pneumonia, Abnormally low T cell receptor excision circle level, Recurrent upper respiratory trac... OMIM:602450
Cholestasis-Lymphedema Syndrome
Portal hypertension, Splenomegaly, Neonatal cholestatic liver disease, Biliary tract abnormality,... ORPHA:1414
Hemophagocytic Lymphohistiocytosis, Familial, 4
Hemophagocytosis, Skin rash, Splenomegaly, Hepatomegaly, Jaundice, Lymphadenopathy, Neutropenia, ... OMIM:603552
Hemoglobin C-Beta-Thalassemia Syndrome
Anemia, Splenomegaly, Microcytic anemia, Abnormal hemoglobin ORPHA:231242
Obesity And Hypopigmentation
Overgrowth, Obesity, Hepatic steatosis OMIM:620195
Bardet-Biedl Syndrome 10
Obesity OMIM:615987
Idiopathic Achalasia
Recurrent aspiration pneumonia, Bronchitis ORPHA:930
Amyloidosis, Hereditary Systemic 2
Nephropathy, Renal amyloidosis, Cholestasis, Skin rash, Splenomegaly, Proteinuria, Hematuria, Hep... OMIM:105200
Muscular Hypertonia, Lethal
Pneumonia OMIM:254120
Gaucher Disease, Perinatal Lethal
Hepatic failure, Intrauterine growth retardation, Hepatosplenomegaly, Splenomegaly, Neonatal deat... OMIM:608013
Linear Iga Dermatosis
Renal neoplasm, Inflammation of the large intestine, Autoimmunity, Bladder neoplasm ORPHA:46488
Bloom Syndrome
Chromosome breakage, Abnormality of chromosome stability, Lymphoma, Azoospermia, Cryptorchidism, ... OMIM:210900
Lymphoproliferative Syndrome 2
Recurrent pneumonia, Aplastic anemia, Hemophagocytosis, Lymphoma, Ascites, Hepatosplenomegaly, Pa... OMIM:615122
Neonatal Severe Primary Hyperparathyroidism
Hepatomegaly, Splenomegaly ORPHA:417
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Pneumonia, Recurrent pneumonia, Hepatitis, Lymphopenia, Hepatosplenomegaly, Otitis media, Eosinop... ORPHA:169160
Progressive Osseous Heteroplasia
Sarcoma ORPHA:2762
Fanconi Anemia, Complementation Group Q
Chromosome breakage, Biliary atresia OMIM:615272
Gillessen-Kaesbach-Nishimura Syndrome
Periportal fibrosis, Pulmonary hypoplasia, Abnormal lung lobation OMIM:263210
Pediatric Systemic Lupus Erythematosus
Microangiopathic hemolytic anemia, Systemic lupus erythematosus, Lymphopenia, Dark urine, Hematur... ORPHA:93552
Bardet-Biedl Syndrome 5
Obesity OMIM:615983
Frontal Encephalocele
Hydrocephalus, Encephalocele, Spina bifida ORPHA:1931
Syndromic X-Linked Intellectual Disability 7
Obesity ORPHA:85274
Primary Pulmonary Hypoplasia
Abnormal pulmonary artery morphology, Intrauterine growth retardation, Pneumothorax, Recurrent re... ORPHA:2257
1Q41Q42 Microdeletion Syndrome
Short stature, Hyposegmentation of neutrophil nuclei, Growth delay, Pulmonary hypoplasia ORPHA:250999
Fragile X Syndrome
Folate-dependent fragile site at Xq28, Macroorchidism ORPHA:908
Thanatophoric Dysplasia
Intrauterine growth retardation, Disproportionate short-limb short stature, Pulmonary hypoplasia ORPHA:2655
Tonne-Kalscheuer Syndrome
Short stature, Growth delay, Pulmonary hypoplasia OMIM:300978
Fanconi Anemia, Complementation Group P
Squamous cell carcinoma, Chromosomal breakage induced by crosslinking agents, Cryptorchidism OMIM:613951
Congenital Diaphragmatic Hernia
Pulmonary hypoplasia ORPHA:2140
Inclusion Body Myositis
Autoimmunity ORPHA:611
Intellectual Developmental Disorder, X-Linked 91
Obesity OMIM:300577
Red Cell Phospholipid Defect With Hemolysis
Splenomegaly, Reticulocytosis, Intermittent jaundice OMIM:179700
Lymphoproliferative Syndrome, X-Linked, 1
Abnormal T cell count, Aplastic anemia, Hemophagocytosis, Lymphoma, Pancytopenia, Abnormal B cell... OMIM:308240
Lethal Congenital Contracture Syndrome Type 1
Short stature, Pulmonary hypoplasia ORPHA:1486
Sea-Blue Histiocyte Disease
Cirrhosis, Splenomegaly, Thrombocytopenia, Sea-blue histiocytosis OMIM:269600
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Pneumonia, Abnormally low T cell receptor excision circle level, Reduced natural killer cell coun... ORPHA:276
Beta-Thalassemia Major
Hepatic fibrosis, Reduced hemoglobin A, Extramedullary hematopoiesis, Persistence of hemoglobin F... ORPHA:231214
Dermatofibrosarcoma Protuberans
Neoplasm of the skin, Fibrosarcoma ORPHA:31112
Omenn Syndrome
Pneumonia, Splenomegaly, Hypoplasia of the thymus, Eosinophilia, Anemia, Erythroderma, Lymphadeno... OMIM:603554
Familial Adenomatous Polyposis 1
Keloids, Adrenocortical adenoma, Fibroadenoma of the breast, Adenomatous colonic polyposis, Duode... OMIM:175100
Hypoinsulinemic Hypoglycemia With Hemihypertrophy
Large for gestational age, Obesity, Truncal obesity OMIM:240900
Decreased liver function, Neural tube defect, Pulmonary hypoplasia ORPHA:79321
Congenital Myopathy 1B, Autosomal Recessive
Recurrent respiratory infections, Pulmonary hypoplasia OMIM:255320
Odontochondrodysplasia 1
Mesomelic short stature, Death in infancy, Short stature, Recurrent respiratory infections, Pulmo... OMIM:184260
Intellectual Developmental Disorder, X-Linked 97
Obesity OMIM:300803
Mitochondrial Complex Iv Deficiency, Nuclear Type 14
Obesity OMIM:619058
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency
Obesity ORPHA:171706
Fanconi Anemia, Complementation Group B
Abnormality of chromosome stability, Aplastic anemia, Renal agenesis, Abnormal lung lobation, Hyp... OMIM:300514
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Abnormal T cell count, Lymphadenitis, Lymphopenia, Hepatosplenomegaly, Autoimmunity, Abnormal B c... ORPHA:331206
Abdominal Obesity-Metabolic Syndrome 1
Abdominal obesity OMIM:605552
Abdominal Obesity-Metabolic Syndrome Quantitative Trait Locus 2
Abdominal obesity OMIM:605572
Nijmegen Breakage Syndrome
Acute leukemia, Recurrent pneumonia, Glioma, Abnormality of chromosome stability, Lymphoma, Hemol... ORPHA:647
Ciliary Dyskinesia, Primary, 9
Pneumonia, Recurrent otitis media, Recurrent sinusitis, Chronic rhinitis, Chronic sinusitis, Chro... OMIM:612444
Macrophage Activation Syndrome
Hepatitis, Hemophagocytosis, Systemic lupus erythematosus, Autoimmunity, Splenomegaly, Increased ... ORPHA:158061
Multiple Acyl-Coa Dehydrogenase Deficiency
Hepatic periportal necrosis, Hepatic steatosis, Neonatal death, Hepatomegaly, Jaundice, Pulmonary... OMIM:231680
Congenital Disorder Of Glycosylation, Type Ik
Hepatomegaly, Flexion contracture, Splenomegaly, Joint contracture OMIM:608540
Alport Syndrome 3A, Autosomal Dominant
Thickened glomerular basement membrane, Nephritis, Nephrocalcinosis, Glomerular basement membrane... OMIM:104200
T-Cell Immunodeficiency With Thymic Aplasia
Pneumonia, Eczematoid dermatitis, Recurrent urinary tract infections, Autoimmunity, Decreased pro... ORPHA:83471
Classic Mycosis Fungoides
Neoplasm of the skin, Lymphoma, Abnormal lymphocyte morphology, Splenomegaly, Lymphadenopathy, He... ORPHA:2584
Cold Agglutinin Disease
Abnormal urinary color, Autoimmunity, Splenomegaly, Lymphadenopathy, Hepatomegaly, Hemolytic anemia ORPHA:56425
Xeroderma Pigmentosum, Complementation Group C
Cutaneous melanoma, Squamous cell carcinoma of the skin, Actinic keratosis, Basal cell carcinoma,... OMIM:278720
Gaucher Disease Type 2
Hepatomegaly, Flexion contracture, Splenomegaly ORPHA:77260
Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities
Obesity OMIM:620270
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull
Pulmonary hypoplasia OMIM:601163
Sarcoma, Weight loss ORPHA:69078
Mucous Membrane Pemphigoid
Autoimmunity ORPHA:46486
Opsoclonus-Myoclonus Syndrome
Small cell lung carcinoma, Ovarian teratoma, Neoplasm, Melanoma, Neuroblastoma, Autoimmune antibo... ORPHA:1183
Thanatophoric Dysplasia, Glasgow Variant
Anemia, Hepatosplenomegaly, Neonatal death OMIM:273680
Dyskeratosis Congenita, Autosomal Recessive 8
Bone marrow hypocellularity, Inflammation of the large intestine, Reduced natural killer cell cou... OMIM:620133
Severe Combined Immunodeficiency Due To Dclre1C Deficiency
Verrucae, Recurrent aphthous stomatitis, Autoimmunity, Skin rash, Otitis media, Hashimoto thyroid... ORPHA:275
Glycosylphosphatidylinositol Biosynthesis Defect 1
Portal vein thrombosis, Hepatomegaly, Portal hypertension, Splenomegaly OMIM:610293
Pulmonary Alveolar Proteinosis, Acquired
Pneumonia, Intraalveolar phospholipid accumulation, Brain abscess, Anti-granulocyte-macrophage co... OMIM:610910
Purine Nucleoside Phosphorylase Deficiency
Decreased urinary urate, Systemic lupus erythematosus, Lymphopenia, Autoimmunity, Neoplasm, Autoi... ORPHA:760
Sarcoidosis, Susceptibility To, 2
Mediastinal lymphadenopathy, Emphysema, Pleural effusion, Splenomegaly, Pneumothorax, Erythema no... OMIM:612387
Alpha-1-Antitrypsin Deficiency
Hepatitis, Bronchitis, Emphysema, Cholestasis, Jaundice, Cirrhosis, Perinuclear antineutrophil an... ORPHA:60
Mixed-Type Autoimmune Hemolytic Anemia
Lymphoma, Systemic lupus erythematosus, Abnormal urinary color, Autoimmunity, Autoimmune hemolyti... ORPHA:90036
Bone Marrow Failure Syndrome 3
Bone marrow hypocellularity, Chromosome breakage, Aplastic anemia, Eczematoid dermatitis, Increas... OMIM:617052
Cholestasis, Progressive Familial Intrahepatic, 10
Portal fibrosis, Failure to thrive, Splenomegaly, Acholic stools, Hepatomegaly, Jaundice OMIM:619868
Ghosal Hematodiaphyseal Dysplasia
Anemia, Splenomegaly ORPHA:1802
Cholestasis, Progressive Familial Intrahepatic, 12
Cholestasis, Hepatomegaly, Jaundice, Splenomegaly OMIM:620010
Ophthalmoplegia, External, And Myopia
Spina bifida OMIM:311000
Autoimmune Polyendocrinopathy Type 4
Atrophic gastritis, Non-caseating epithelioid cell granulomatosis, Aplasia/Hypoplasia of the sple... ORPHA:227990
Prolidase Deficiency
Recurrent pneumonia, Eczematoid dermatitis, Systemic lupus erythematosus, Splenomegaly, Crusting ... OMIM:170100
Carpenter Syndrome
Obesity, Polysplenia, Umbilical hernia ORPHA:65759
Chronic Myeloid Leukemia
Abnormal granulocyte morphology, Leukocytosis, Splenomegaly, Abnormal basophil morphology, Thromb... ORPHA:521
Chronic kidney disease, Pneumonia, Granuloma, Hepatitis, Systemic lupus erythematosus, Anti-dsDNA... ORPHA:1855
Morbid Obesity And Spermatogenic Failure
Obesity, Hepatic steatosis OMIM:615703
Autism, Susceptibility To, X-Linked 6
Obesity OMIM:300872
Immunodeficiency 42
Hepatomegaly, Hypoplasia of the thymus, Splenomegaly OMIM:616622
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Hypersplenism, Splenomegaly, Anemia, Thrombocytopenia, Hepatomegaly OMIM:610539
Splenoportal Vascular Anomalies
Hepatic fibrosis, Ascites, Splenomegaly, Cirrhosis, Anomalous splenoportal venous system OMIM:271500
Young Syndrome
Bronchiectasis, Congenital pulmonary airway malformation, Recurrent sinopulmonary infections, Rec... OMIM:279000
Pfapa Syndrome
Hepatomegaly, Weight loss, Splenomegaly, Lymphadenopathy ORPHA:42642
Immunodeficiency 89 And Autoimmunity
Rheumatoid factor positive, Anti-thyroglobulin antibody positivity, Crohn's disease, Antinuclear ... OMIM:619632
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance
Chronic kidney disease, Minimal change glomerulonephritis, Focal segmental glomerulosclerosis, As... ORPHA:567546
Immunodeficiency 116
Recurrent respiratory infections, Bronchiectasis, Absence of CD8-positive T cells OMIM:608957
Mixed Connective Tissue Disease
Nephropathy, Mediastinal lymphadenopathy, Hemolytic anemia, Autoimmunity, Leukopenia, Skin rash, ... ORPHA:809
Secondary Non-Traumatic Avascular Necrosis
Rheumatoid arthritis, Systemic lupus erythematosus, Autoimmunity, Neoplasm, Hematological neoplasm ORPHA:399180
Acrocephalopolydactylous Dysplasia
Hepatic fibrosis, Polysplenia, Pancreatic fibrosis, Hepatomegaly, Extrapulmonary lobar sequestrat... OMIM:200995
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome
Bilateral lung agenesis, Neonatal death OMIM:601612
Pneumonia, Keratitis, Hepatitis, Osteomyelitis, Pleural effusion, Infectious encephalitis, Eosino... ORPHA:1163
Icf Syndrome
Abnormality of chromosome stability, Abnormality of neutrophils, Lymphopenia, Anemia, Recurrent r... ORPHA:2268
Autoimmune Hemolytic Anemia, Warm Type
Systemic lupus erythematosus, Abnormal urinary color, Autoimmunity, Autoimmune hemolytic anemia, ... ORPHA:90033
Deafness-Lymphedema-Leukemia Syndrome
Bone marrow hypocellularity, Acute leukemia, Leukocytosis, Splenomegaly, Weight loss, Lymphadenop... ORPHA:3226
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies
Pulmonary artery atresia, Recurrent respiratory infections, Mesenteric cyst, Pulmonary hypoplasia OMIM:618316
Immunodeficiency 92
Pneumonia, Osteomyelitis, Esophagitis, Leukocytosis, Sclerosing cholangitis, Lymphocytosis, Decre... OMIM:619652
T-Cell Immunodeficiency With Thymic Aplasia
Abnormally low T cell receptor excision circle level, Recurrent pneumonia, Eczematoid dermatitis,... OMIM:242700
Immunodeficiency By Defective Expression Of Mhc Class Ii
Abnormal CD4:CD8 ratio, Chronic mucocutaneous candidiasis, Recurrent respiratory infections, Panc... ORPHA:572
Meacham Syndrome
Accessory spleen, Congenital alveolar dysplasia, Scimitar anomaly, Death in childhood, Neonatal d... OMIM:608978
Lymphoid Interstitial Pneumonia
Rheumatoid arthritis, Bronchiectasis, Eczematoid dermatitis, Subpleural interstitial thickening, ... ORPHA:79128
Abnormality of the spleen, Lymphopenia, Hematological neoplasm, Abnormality of the kidney, Neutro... ORPHA:228119
Chronic kidney disease, Acute kidney injury, Abnormality of the hepatic vasculature, Elevated cir... ORPHA:275555
Schnitzler Syndrome
Lymphoma, Leukocytosis, Splenomegaly, Skin rash, Hepatomegaly, Lymphadenopathy, Arthritis, Anemia ORPHA:37748
Fanconi Anemia, Complementation Group V
Bone marrow hypocellularity, Chromosomal breakage induced by crosslinking agents, Thrombocytopeni... OMIM:617243
Thanatophoric Dysplasia, Type I
Neonatal death, Disproportionate short-limb short stature, Lethal short-limbed short stature, Pul... OMIM:187600
Cryptorchidism-Arachnodactyly-Intellectual Disability Syndrome
Recurrent respiratory infections, Aplasia/Hypoplasia of the lungs ORPHA:1548
Ciliary Dyskinesia, Primary, 25
Recurrent pneumonia, Polysplenia, Recurrent otitis media, Chronic bronchitis, Recurrent sinusitis... OMIM:615482
Fanconi Anemia, Complementation Group E
Deficient excision of UV-induced pyrimidine dimers in DNA, Renal agenesis, Leukemia, Horseshoe ki... OMIM:600901
Fanconi Anemia, Complementation Group A
Deficient excision of UV-induced pyrimidine dimers in DNA, Renal agenesis, Leukemia, Horseshoe ki... OMIM:227650
Hemorrhagic Fever-Renal Syndrome
Chronic kidney disease, Pneumonia, Acute kidney injury, Oliguria, Elevated circulating hepatic tr... ORPHA:340
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome
Splenic infarction, Persistence of hemoglobin F, Increased red cell sickling tendency, Reticulocy... ORPHA:251380
Spondyloenchondrodysplasia With Immune Dysregulation
Pneumonia, Rheumatoid arthritis, Systemic lupus erythematosus, Recurrent otitis media, Lymphopeni... OMIM:607944
Hereditary Breast And/Or Ovarian Cancer Syndrome
Prostate cancer, Melanoma, Primary peritoneal carcinoma, Ovarian neoplasm, Neoplasm of the pancre... ORPHA:145
Whim Syndrome 1
Recurrent upper respiratory tract infections, Verrucae, Abnormal morphology of female internal ge... OMIM:193670
Maternal Uniparental Disomy Of Chromosome 2
Pulmonary hypoplasia, Postnatal growth retardation, Intrauterine growth retardation, Respiratory ... ORPHA:96179
X-Linked Alport Syndrome-Diffuse Leiomyomatosis
Nephropathy, Chronic kidney disease, Uterine neoplasm, Keratitis, Aspiration pneumonia, Vaginal n... ORPHA:1018
Serkal Syndrome
Growth delay, Pulmonary hypoplasia ORPHA:139466
Agammaglobulinemia 8B, Autosomal Recessive
Recurrent pneumonia, B Acute Lymphoblastic Leukemia, Pancytopenia, Splenomegaly, Increased propor... OMIM:619824
Infantile Osteopetrosis With Neuroaxonal Dysplasia
Pneumonia ORPHA:85179
Immunodeficiency 10
Recurrent pneumonia, Recurrent urinary tract infections, Recurrent otitis media, Splenomegaly, Au... OMIM:612783
Drug-Induced Lupus Erythematosus
Malar rash, Hematuria, Lupus anticoagulant, Serositis, Antinuclear antibody positivity, Thrombocy... ORPHA:231111
Cancer-Associated Retinopathy
Small cell lung carcinoma, Thymoma, Uterine neoplasm, Cutaneous melanoma, Pancreatic adenocarcino... ORPHA:71505
Immunodeficiency 57 With Autoinflammation
Inflammation of the large intestine, Reduced natural killer cell count, Skin rash, Perianal absce... OMIM:618108
Portal Hypertension, Noncirrhotic, 1
Hepatomegaly, Portal hypertension, Splenomegaly OMIM:617068
Gastrointestinal Stromal Tumor
Neoplasm of the colon, Abnormality of the liver, Esophageal neoplasm, Neoplasm of the small intes... ORPHA:44890
Fanconi Anemia, Complementation Group N
Medulloblastoma, Nephroblastoma, Acute myeloid leukemia, Chromosomal breakage induced by crosslin... OMIM:610832
Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies
Microcytic anemia, Hepatosplenomegaly, Lymphadenopathy, Fibroma OMIM:619750
Aicardi-Goutieres Syndrome 6
Splenomegaly, Chilblains, Thrombocytopenia, Hepatomegaly, Hemolytic anemia OMIM:615010
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs
Congenital pulmonary airway malformation, Intrauterine growth retardation, Bilateral lung agenesi... OMIM:611812
Diabetes Mellitus, Ketosis-Prone
Autoimmunity, Beta-cell dysfunction OMIM:612227
Ciliary Dyskinesia, Primary, 33
Recurrent pneumonia, Atelectasis, Recurrent otitis media, Recurrent bronchitis, Chronic rhinitis,... OMIM:616726
Coronary Artery Disease, Autosomal Dominant, 1
Obesity OMIM:608320
Fanconi Anemia, Complementation Group D2
Duplicated collecting system, Bone marrow hypocellularity, Deficient excision of UV-induced pyrim... OMIM:227646
Hydrocephalus, Holoprosencephaly, Spina bifida ORPHA:945
Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features
Failure to thrive in infancy, Obesity OMIM:613670
Multiple Pterygium Syndrome, X-Linked
Intrauterine growth retardation, Pulmonary hypoplasia OMIM:312150
11Q22.2Q22.3 Microdeletion Syndrome
Hemangioma, Obesity ORPHA:444002
Pneumonia, Brain abscess, Foot osteomyelitis, Cutaneous abscess, Hepatitis, Parotitis, Abnormalit... ORPHA:31202
Macrocephaly/Autism Syndrome
Lymphopenia, Obesity, Large for gestational age, Splenomegaly, Overgrowth, Hepatomegaly OMIM:605309
Meige Disease