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Gene: Fen1 MGI:102779

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Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
flap structure specific endonuclease 1
Synonyms:
N/A

Order Alleles

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

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

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
phenotypes		 Matching phenotypes Source
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency
Hepatomegaly, Recurrent respiratory infections, Glomerulonephritis, Decreased proportion of margi... OMIM:619375
Combined Immunodeficiency Due To Partial Rag1 Deficiency
Autoimmune hemolytic anemia, Autoimmunity, Splenomegaly, Neutropenia in presence of anti-neutropi... ORPHA:231154
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Hepatomegaly, Autoimmune hemolytic anemia, Recurrent respiratory infections, Recurrent urinary tr... OMIM:618495
Systemic Lupus Erythematosus 16
Lupus nephritis, Antinuclear antibody positivity, Systemic lupus erythematosus, Anti-dsDNA antibo... OMIM:614420
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis
Autoimmune hemolytic anemia, Pneumonia, Glomerulonephritis, Plasmacytosis, Lymphopenia OMIM:247800
Autoimmune Lymphoproliferative Syndrome, Type Iii
Increased proportion autoreactive unresponsive CD21-/low B cells, Generalized lymphadenopathy, In... OMIM:615559
Complement Component 3 Deficiency, Autosomal Recessive
Renal insufficiency, Membranoproliferative glomerulonephritis, Recurrent tonsillitis, Recurrent p... OMIM:613779
Autoimmune Disease, Multisystem, Infantile-Onset, 2
Impaired lymphocyte transformation with phytohemagglutinin, Increased CD4:CD8 ratio, Proteinuria,... OMIM:617006
Autoimmune Disease, Multisystem, Infantile-Onset, 1
Autoimmune hemolytic anemia, Autoimmunity, Eczema, Autoimmune thrombocytopenia, Desquamative inte... OMIM:615952
C1Q Deficiency 1
Membranoproliferative glomerulonephritis, Autoimmunity, Systemic lupus erythematosus OMIM:613652
Fraxf Syndrome
Folate-dependent fragile site at Xq28 ORPHA:100974
Idiopathic Non-Lupus Full-House Nephropathy
Glomerular C3 deposition, Renal insufficiency, Proteinuria, Glomerulonephritis, Microscopic hemat... ORPHA:567544
Pulmonary Nodular Lymphoid Hyperplasia
Nodular pattern on pulmonary HRCT, Follicular hyperplasia, Mediastinal lymphadenopathy, Dyspnea, ... ORPHA:60026
Idiopathic Pulmonary Hemosiderosis
Hepatomegaly, Rheumatoid factor positive, Glomerulonephritis, Nodular pattern on pulmonary HRCT, ... ORPHA:99931
N Syndrome
Cryptorchidism, Leukemia, Neoplasm, Abnormality of chromosome stability OMIM:310465
Autoimmune Interstitial Lung, Joint, And Kidney Disease
Mesangial hypercellularity, Antinuclear antibody positivity, Dyspnea, Tachypnea, Crescentic glome... OMIM:616414
Pulmonary Hypoplasia, Primary
Neonatal death, Pulmonary hypoplasia OMIM:265430
Systemic Lupus Erythematosus
Hemolytic anemia, Pericarditis, Antiphospholipid antibody positivity, Lupus nephritis, Antinuclea... OMIM:152700
Mast Cell Sarcoma
Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Weight loss, Mastocytos... ORPHA:66661
Autoinflammation With Pulmonary And Cutaneous Vasculitis
Hepatomegaly, Splenomegaly, Recurrent upper respiratory tract infections, Restrictive ventilatory... OMIM:620296
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Respiratory distress, Myositis, Anti-thyroid peroxidase antibody positivity, Tubulointerstitial n... ORPHA:37042
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Hemolytic anemia, Autoimmune hemolytic anemia, Autoimmunity, Autoimmune thrombocytopenia, Respira... ORPHA:444463
Chronic Beryllium Disease
Lymphocytic interstitial pneumonia, Mediastinal lymphadenopathy, Hypersensitivity pneumonitis, Dy... ORPHA:133
Adenocarcinoma Of The Esophagus
Esophageal carcinoma, Barrett esophagus, Obesity, Lymphadenopathy ORPHA:99976
Immunodeficiency, Common Variable, 6
Hepatomegaly, Recurrent respiratory infections, Glomerulonephritis, Autoimmune thrombocytopenia, ... OMIM:613496
Immunodeficiency 51
Recurrent respiratory infections, Recurrent skin infections, Pneumonia, Eczema, Pustule, Chronic ... OMIM:613953
Interstitial Lung Disease 1
Nonspecific interstitial pneumonia, Crackles, Intralobular septal thickening, Cough, Dyspnea, Res... OMIM:619611
Drug Reaction With Eosinophilia And Systemic Symptoms
Acute hepatic failure, Elevated hepatic transaminase, Renal insufficiency, Skin rash, Eosinophili... ORPHA:139402
Pneumocystosis
Multiple pulmonary cysts, Respiratory failure requiring assisted ventilation, Abnormal neutrophil... ORPHA:723
Nephrotic Syndrome, Type 7
Hemolytic anemia, Membranoproliferative glomerulonephritis, Proteinuria, Hemolytic-uremic syndrom... OMIM:615008
C3 Glomerulopathy 3
Glomerular C3 deposition, Renal insufficiency, Glomerulonephritis, Mesangial hypercellularity, St... OMIM:614809
Asbestos Intoxication
Reduced forced vital capacity, Nonproductive cough, Decreased DLCO, Oxygen desaturation on exerti... ORPHA:2302
Fetal Cytomegalovirus Syndrome
Splenomegaly, Hepatomegaly, Anemia ORPHA:294
Immunodeficiency 104
Hepatomegaly, Eczema, Pneumonia, Splenomegaly, Chronic mucocutaneous candidiasis, Lymphadenopathy... OMIM:608971
Mantle Cell Lymphoma
Splenomegaly, Weight loss, B-cell lymphoma, Lymphadenopathy ORPHA:52416
Fanconi Anemia, Complementation Group G
Abnormality of chromosome stability, Leukemia, Myelodysplasia OMIM:614082
Surfactant Metabolism Dysfunction, Pulmonary, 2
Respiratory distress, Reduced forced vital capacity, Tachypnea, Cough, Decreased DLCO, Bronchiect... OMIM:610913
Complement Component C1R/C1S Deficiency
Autoimmunity, Discoid lupus rash, Arthritis, Nephritis, Recurrent bronchitis OMIM:216950
Neutrophilia, Hereditary
Splenomegaly, Neutrophilia, Myelodysplasia OMIM:162830
Thymoma
Myositis, Aplastic anemia, Glomerulonephritis, Neoplasm of head and neck, Autoimmunity, Pure red ... ORPHA:99867
Undifferentiated Pleomorphic Sarcoma
Abnormal peritoneum morphology, Soft tissue sarcoma, Weight loss ORPHA:2023
Tumor Predisposition Syndrome 1
Uveal melanoma, Renal cell carcinoma, Cutaneous melanoma, Malignant mesothelioma, Lung adenocarci... OMIM:614327
Complement Component 4A Deficiency
Glomerulonephritis, Systemic lupus erythematosus OMIM:614380
Immunodeficiency 40
Hepatomegaly, Respiratory tract infection, Recurrent pneumonia, Eosinophilic granuloma, T lymphoc... OMIM:616433
Autoinflammation, Antibody Deficiency, And Immune Dysregulation
Recurrent sinopulmonary infections, Enterocolitis, Ulcerative colitis, Decreased proportion of cl... OMIM:614878
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Hepatomegaly, Extramedullary hematopoiesis, Splenomegaly, Anemia, Leukopenia, Neutropenia, Enlarg... OMIM:615285
Tumor Predisposition Syndrome 4
Glioma, Meningioma, Breast carcinoma, Sarcoma OMIM:609265
Activated Pi3K-Delta Syndrome
Hepatomegaly, Autoimmunity, Pneumonia, Splenomegaly, Lymphoma, Recurrent tonsillitis, Bronchiecta... ORPHA:397596
Nephrotic Syndrome, Type 23
Proteinuria, Mesangial hypercellularity, Minimal change glomerulonephritis, Focal segmental glome... OMIM:619201
Melanoma-Pancreatic Cancer Syndrome
Pancreatic adenocarcinoma, Oropharyngeal squamous cell carcinoma, Squamous cell carcinoma, Melano... OMIM:606719
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome
Splenomegaly, Hepatomegaly ORPHA:2274
Nphp3-Related Meckel-Like Syndrome
Abnormality of the pancreas, Abnormal biliary tract morphology, Pulmonary hypoplasia, Abnormal li... ORPHA:3032
Autoimmune Lymphoproliferative Syndrome, Type Iia
Rheumatoid factor positive, Iron deficiency anemia, Platelet antibody positive, Increased B cell ... OMIM:603909
Autoimmune Lymphoproliferative Syndrome
Rheumatoid factor positive, Hepatocellular carcinoma, Uveitis, Colitis, Thyroid carcinoma, Lympho... ORPHA:3261
Li-Fraumeni Syndrome
Neoplasm of the pancreas, Adrenocortical carcinoma, Soft tissue sarcoma, Breast carcinoma, Acute ... OMIM:151623
Dyskeratosis Congenita, Autosomal Dominant 1
Aplastic anemia, Myelodysplasia, Thrombocytopenia, Dyspnea, Hepatic necrosis, Leukopenia, Interst... OMIM:127550
Immunodeficiency 91 And Hyperinflammation
Acute hepatic failure, Hepatomegaly, Renal insufficiency, Membranoproliferative glomerulonephriti... OMIM:619644
Fanconi Renotubular Syndrome 5
Proteinuria, Stage 5 chronic kidney disease, Aminoaciduria, Pulmonary fibrosis, Glycosuria, Decre... OMIM:618913
Nephrotic Syndrome, Type 10
Nephrotic syndrome, Podocyte foot process effacement, Steroid-resistant nephrotic syndrome, Minim... OMIM:615861
Igg4-Related Kidney Disease
Rheumatoid factor positive, Lymphadenitis, Abnormal lung morphology, Renal interstitial immunoglo... ORPHA:449395
Mosaic Variegated Aneuploidy Syndrome 4
Abnormality of chromosome stability OMIM:620153
Reticulum Cell Sarcoma
Neoplasm, Sarcoma OMIM:267730
C3 Glomerulopathy
Membranoproliferative glomerulonephritis, Proteinuria, Autoimmunity, Mesangial hypercellularity, ... ORPHA:329918
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 4B
Neonatal death, Pulmonary hypoplasia OMIM:615228
Autoimmune Hepatitis
Viral hepatitis, Liver kidney microsome type 1 antibody positivity, Diffuse hepatic steatosis, Gl... ORPHA:2137
Congenital Membranous Nephropathy Due To Fetomaternal Anti-Neutral Endopeptidase Alloimmunization
Nephrotic syndrome, Renal insufficiency, Glomerular deposits, Glomerulonephritis ORPHA:69063
Immunodeficiency 75 With Lymphoproliferation
Recurrent respiratory infections, Follicular hyperplasia, Lymphoma, Bronchiectasis, Hepatosplenom... OMIM:619126
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Decreased proportion of CD4-positive T cells, Recurrent respiratory infections, Lymphoproliferati... OMIM:300853
Renal Hypodysplasia/Aplasia 4
Pulmonary hypoplasia OMIM:619887
Desmoplastic Small Round Cell Tumor
Abnormal peritoneum morphology, Hepatomegaly, Neoplasm of the pancreas, Testicular neoplasm, Cach... ORPHA:83469
Renal Hypodysplasia/Aplasia 2
Pulmonary hypoplasia OMIM:615721
Immunodeficiency, Common Variable, 1
Hepatomegaly, Pneumonia, Splenomegaly, Recurrent pneumonia, Neutropenia in presence of anti-neutr... OMIM:607594
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Glomerulonephritis, Eosinophilia, Autoimmune thrombocytopenia, Eczema, Thrombocytopenia, Hepatiti... OMIM:304790
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10
Neural tube defect OMIM:615041
Ras-Associated Autoimmune Leukoproliferative Disorder
Hemolytic anemia, Pancytopenia, Hepatomegaly, Lymphoproliferative disorder, Autoimmunity, Recurre... OMIM:614470
Primary Myelofibrosis
Hepatomegaly, Pancytopenia, Extramedullary hematopoiesis, Portal hypertension, Hematological neop... ORPHA:824
Leukocyte Adhesion Deficiency, Type Iii
Hepatomegaly, Extramedullary hematopoiesis, Recurrent skin infections, Epistaxis, Splenomegaly, L... OMIM:612840
Tn Polyagglutination Syndrome
Abnormal erythrocyte morphology, Autoimmunity OMIM:300622
Autoinflammatory-Pancytopenia Syndrome
Pancytopenia, Membranoproliferative glomerulonephritis, Proteinuria, Chilblains, Intestinal infla... OMIM:619858
Surfactant Metabolism Dysfunction, Pulmonary, 3
Respiratory distress, Apnea, Crazy paving pattern, Nodular pattern on pulmonary HRCT, Tachypnea, ... OMIM:610921
Immunodeficiency 64 With Lymphoproliferation
Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of CD4-pos... OMIM:618534
Focal Segmental Glomerulosclerosis 10
Renal insufficiency, Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidney disea... OMIM:256020
Immunodeficiency 27A
Increased inflammatory response, Abnormal bronchus physiology, Rheumatoid factor positive, Pneumo... OMIM:209950
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Inflammatory abnormality of the skin, Sinusitis, Autoimmunity, Absence of lymph node germinal cen... ORPHA:277
Immunodeficiency 52
Decreased proportion of CD4-positive T cells, Autoimmune thrombocytopenia, Splenomegaly, Increase... OMIM:617514
Erythroleukemia, Familial, Susceptibility To
Acute myeloid leukemia, Hepatomegaly, Splenomegaly, Anemia, Refractory anemia with ringed siderob... OMIM:133180
Bronchiolitis Obliterans With Obstructive Pulmonary Disease
Pneumonia, Autoimmunity, Reduced forced expiratory volume in one second, Respiratory tract infect... ORPHA:1303
Immunodeficiency 54
Hepatomegaly, Recurrent respiratory infections, Chromosome breakage, Lymphoproliferative disorder... OMIM:609981
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Autoimmune hemolytic anemia, Fluctuating splenomegaly, Autoimmune thrombocytopenia, Neutropenia i... OMIM:619220
Ollier Disease
Chondrosarcoma, Visceral angiomatosis, Multiple enchondromatosis, Neoplasm, Lymphangioma, Hemangi... ORPHA:296
Fanconi Anemia, Complementation Group D1
Acute myeloid leukemia, T-cell acute lymphoblastic leukemias, Chromosomal breakage induced by cro... OMIM:605724
Immunodeficiency 48
Hepatomegaly, Recurrent respiratory infections, Pneumonia, Absence of CD8-positive T cells, Splen... OMIM:269840
Masp2 Deficiency
Recurrent pneumonia, Ulcerative colitis, Systemic lupus erythematosus OMIM:613791
Isolated Agammaglobulinemia
Recurrent cutaneous abscess formation, Recurrent respiratory infections, Sinusitis, Skin rash, Ab... ORPHA:229717
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation
Herpes simplex encephalitis, Bronchiectasis, Hepatosplenomegaly, Increased proportion of memory T... OMIM:618982
Combined Oxidative Phosphorylation Deficiency 8
Neonatal death, Death in infancy, Pulmonary hypoplasia, Death in childhood OMIM:614096
Lethal Congenital Contracture Syndrome 11
Intrauterine growth retardation, Pulmonary hypoplasia OMIM:617194
Pgm3-Cdg
Rheumatoid factor positive, Abnormal CD4:CD8 ratio, Leukopenia, T lymphocytopenia, Neutropenia, C... ORPHA:443811
Immunodeficiency, Common Variable, 2
Hepatomegaly, Autoimmunity, Follicular hyperplasia, Splenomegaly, Lymphoma, Recurrent pneumonia, ... OMIM:240500
Nephrotic Syndrome, Type 16
Hematuria, Nephrotic syndrome, Proteinuria, Minimal change glomerulonephritis OMIM:617783
Mitochondrial Complex I Deficiency, Nuclear Type 35
Neonatal death, Intrauterine growth retardation, Pulmonary hypoplasia OMIM:619003
Myofibromatosis, Infantile, 1
Fibroma, Myofibromatosis OMIM:228550
Ewing Sarcoma
Ewing sarcoma OMIM:612219
Autoinflammation, Immune Dysregulation, And Eosinophilia
Eosinophilic liver infiltration, Eosinophilia, Asthma, Atopic dermatitis, Hepatosplenomegaly, Nep... OMIM:618999
Spina Bifida-Hypospadias Syndrome
Spina bifida, Spinal dysraphism ORPHA:3176
Fanconi Anemia, Complementation Group T
Acute myeloid leukemia, Chromosomal breakage induced by crosslinking agents OMIM:616435
Lung Cancer
Alveolar cell carcinoma, Lung adenocarcinoma, Non-small cell lung carcinoma OMIM:211980
Rhabdoid Tumor
Renal neoplasm, Lymphadenopathy, Neoplasm of the central nervous system, Neoplasm of the liver, A... ORPHA:69077
Neonatal Acute Respiratory Distress Due To Sp-B Deficiency
Neonatal respiratory distress, Spontaneous neonatal pneumothorax, Tachypnea, Intraalveolar phosph... ORPHA:217563
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To
Acute myeloid leukemia, Refractory anemia, Eczema, Myelodysplasia, Asthma, Lymphoma, Systemic lup... OMIM:616871
Glycoprotein Storage Disease
Splenomegaly OMIM:232900
Nodular Lymphocyte Predominant Hodgkin Lymphoma
Hepatomegaly, B-cell lymphoma, Splenomegaly, Lymphoma, Breast carcinoma, Lymphadenopathy, Weight ... ORPHA:86893
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant
Pneumonia, Recurrent upper respiratory tract infections, Atopic dermatitis, T lymphocytopenia, Ab... OMIM:618806
Immunodeficiency 105
Impaired lymphocyte transformation with phytohemagglutinin, Pancytopenia, Skin rash, B-cell lymph... OMIM:619924
Thrombocytopenia With Elevated Serum Iga And Renal Disease
Hematuria, Glomerulonephritis, Thrombocytopenia OMIM:314000
Pauci-Immune Glomerulonephritis
Renal interstitial immunoglobulin deposits, Tubulointerstitial nephritis, Granulomatosis, Cough, ... ORPHA:93126
Nephrotic Syndrome, Type 15
Steroid-resistant nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease, Minimal change... OMIM:617609
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 1, Autosomal Recessive
Respiratory distress, Lymphocytic interstitial pneumonia OMIM:245590
Lipodystrophy, Partial, Acquired, Susceptibility To
Membranoproliferative glomerulonephritis, Proteinuria, Polycystic ovaries, Hematuria, Nephrotic s... OMIM:608709
Nijmegen Breakage Syndrome-Like Disorder
Chromosomal breakage induced by ionizing radiation OMIM:613078
Renal-Hepatic-Pancreatic Dysplasia 2
Hepatomegaly, Malformation of the hepatic ductal plate, Asplenia, Abnormal lung lobation, Cholest... OMIM:615415
Immunodeficiency 76
B-cell lymphoma, Splenomegaly, Recurrent pneumonia, Lymphadenopathy, T lymphocytopenia, Colitis, ... OMIM:619164
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant
Recurrent respiratory infections, Recurrent sinopulmonary infections, Splenomegaly, Bronchiectasi... OMIM:615513
Immunodeficiency 16
Splenomegaly, Pancytopenia, Kaposi's sarcoma, Coombs-positive hemolytic anemia OMIM:615593
Eosinophilopenia
Decreased eosinophil count, Autoimmunity, Allergic rhinitis OMIM:131430
Pemphigus Vulgaris, Familial
Autoimmune antibody positivity, Autoimmunity OMIM:169610
Combined Immunodeficiency, X-Linked
Sinusitis, Pneumonia, Decreased proportion of CD8-positive T cells, Otitis media, Decreased propo... OMIM:312863
C1Q Deficiency 2
Anti-Sm antibody positivity, Rheumatoid factor positive, Chilblains, Antinuclear antibody positiv... OMIM:620321
Intrauterine Growth Retardation With Increased Mitomycin C Sensitivity
Abnormality of chromosome stability OMIM:600546
Acute Radiation Syndrome
Inflammatory abnormality of the skin, Interstitial pneumonitis, Granulocytopenia, Lymphopenia, Th... ORPHA:454831
Maturity-Onset Diabetes Of The Young, Type 11
Overweight, Obesity OMIM:613375
Autoimmune Disease
Autoimmune antibody positivity, Autoimmunity OMIM:109100
Bazex Syndrome
Anemia, Neoplasm, Lung adenocarcinoma, Liposarcoma ORPHA:166113
Immunodeficiency With Hyper-Igm, Type 4
Autoimmune hemolytic anemia, Osteomyelitis, Myelodysplasia, Absence of lymph node germinal center... OMIM:608184
Lymphoid Interstitial Pneumonia
Lymphocytic interstitial pneumonia OMIM:247610
Combined Immunodeficiency Due To Zap70 Deficiency
Lymphadenitis, Colitis, Lymphocytosis, Autoimmune thrombocytopenia, Hepatosplenomegaly, Lymphaden... ORPHA:911
Igg4-Related Retroperitoneal Fibrosis
Normocytic anemia, Rheumatoid factor positive, Anti-thyroid peroxidase antibody positivity, Hashi... ORPHA:49041
Felty Syndrome
Sinusitis, Neutropenia, Chronic otitis media, Abnormal lymphocyte morphology, Hepatomegaly, Recur... ORPHA:47612
Proteasome-Associated Autoinflammatory Syndrome 5
Splenomegaly, Hepatomegaly, Failure to thrive in infancy OMIM:619175
Nut Midline Carcinoma
Oropharyngeal squamous cell carcinoma, Pancreatoblastoma, Squamous cell carcinoma, Neoplasm, Panc... ORPHA:443167
Primary Sjögren Syndrome
Normocytic anemia, Myositis, Chronic active hepatitis, Bronchitis, Nonproductive cough, Tubuloint... ORPHA:289390
Immunodeficiency 23
Hemolytic anemia, Recurrent respiratory infections, Membranoproliferative glomerulonephritis, Rhe... OMIM:615816
Trimethylaminuria
Trimethylaminuria, Splenomegaly, Recurrent pneumonia, Neutropenia, Anemia OMIM:602079
Transcobalamin Deficiency
Pancytopenia, Abnormality of chromosome stability, Methylmalonic aciduria, Neutropenia, Lymphopen... ORPHA:859
Hypereosinophilic Syndrome, Idiopathic
Splenomegaly, Hepatomegaly, Eosinophilia, Myeloproliferative disorder OMIM:607685
Immunodeficiency 36 With Lymphoproliferation
B-cell lymphoma, Autoimmunity, Splenomegaly, Recurrent upper respiratory tract infections, Enlarg... OMIM:616005
Mesomelic Dwarfism-Cleft Palate-Camptodactyly Syndrome
Abnormal lung lobation, Pulmonary hypoplasia ORPHA:2631
Omenn Syndrome
Hepatomegaly, Eosinophilia, Autoimmunity, Pneumonia, Splenomegaly, Leukocytosis, Lymphoma, Thyroi... ORPHA:39041
Microphthalmia, Syndromic 12
Neonatal death, Pulmonary hypoplasia OMIM:615524
Beta-Thalassemia Intermedia
Hepatomegaly, Increased HbA2 hemoglobin, Extramedullary hematopoiesis, Anemia of inadequate produ... ORPHA:231222
Scleroderma, Familial Progressive
Chromosome breakage, Abnormality of chromosome stability OMIM:181750
Combined Immunodeficiency Due To Dock8 Deficiency
Recurrent respiratory infections, Recurrent bacterial skin infections, Pneumonia, Asthma, Atopic ... ORPHA:217390
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Sideroblastic anemia, Extramedullary hematopoiesis, Thrombocytopenia, Patent ductus arteriosus, R... OMIM:617021
Hydrops Fetalis, Nonimmune, With Gracile Bones And Dysmorphism
Pulmonary hypoplasia OMIM:613124
Fanconi Anemia, Complementation Group S
Chromosome breakage, Ovarian carcinoma, Breast carcinoma, Ovarian neoplasm OMIM:617883
Larsen-Like Syndrome, Lethal Type
Neonatal death, Pulmonary hypoplasia OMIM:245650
Neural Tube Defects, Folate-Sensitive
Spinal dysraphism OMIM:601634
Xeroderma Pigmentosum, Complementation Group G
Defective DNA repair after ultraviolet radiation damage OMIM:278780
Neutropenia, Severe Congenital, 9, Autosomal Dominant
Splenomegaly OMIM:619813
Xeroderma Pigmentosum, Complementation Group F
Seborrheic keratosis, Defective DNA repair after ultraviolet radiation damage, Keratoacanthoma, S... OMIM:278760
Diffuse Alveolar Hemorrhage
Respiratory failure requiring assisted ventilation, Antiphospholipid antibody positivity, Protein... ORPHA:90060
Mercury Poisoning
Respiratory distress, Dyspnea, Respiratory failure, Interstitial pneumonitis, Acute kidney injury ORPHA:330021
Neonatal Alloimmune Neutropenia
Pneumonia, Jaundice, Neutropenia in presence of anti-neutropil antibodies, Antineutrophil antibod... ORPHA:464370
Schimke Immuno-Osseous Dysplasia
Lymphopenia, Lymphoproliferative disorder, Proteinuria, Autoimmunity, Minimal change glomerulonep... ORPHA:1830
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency
Hepatomegaly, Autoimmune hemolytic anemia, Atrophic gastritis, Psoriasiform dermatitis, Eczema, P... ORPHA:436159
Immunoglobulin A Deficiency 2
Recurrent sinopulmonary infections, Abnormal lymphocyte morphology, Autoimmunity OMIM:609529
Brucellosis
Liver abscess, Rheumatoid factor positive, Bronchitis, Knee osteoarthritis, Leukopenia, Abnormali... ORPHA:1304
Systemic Lupus Erythematosus
Hemolytic anemia, Proteinuria, Lupus nephritis, Pyuria, Antinuclear antibody positivity, Discoid ... ORPHA:536
Chilblain Lupus
Inflammatory abnormality of the skin, Antiphospholipid antibody positivity, Rheumatoid factor pos... ORPHA:90280
Adiposis Dolorosa
Obesity, Painful subcutaneous lipomas OMIM:103200
Immunodeficiency 7
Hepatomegaly, Autoimmune hemolytic anemia, Recurrent respiratory infections, Chronic oral candidi... OMIM:615387
Autoimmune Lymphoproliferative Syndrome
Hepatomegaly, Autoimmune hemolytic anemia, Antiphospholipid antibody positivity, Rheumatoid facto... OMIM:601859
Nephrotic Syndrome, Type 6
Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidney disease, Focal segmental g... OMIM:614196
Genetic Steroid-Resistant Nephrotic Syndrome
Diffuse mesangial sclerosis, Foamy urine, Proteinuria, Minimal change glomerulonephritis, Respira... ORPHA:656
Ataxia-Telangiectasia
Elevated hepatic transaminase, Abnormality of chromosome stability, Polycystic ovaries, Neoplasm,... ORPHA:100
Acquired Ichthyosis
Renal insufficiency, Recurrent skin infections, Autoimmunity, Lymphoma, Neoplasm, Multiple myelom... ORPHA:454
Osteopetrosis, Autosomal Recessive 2
Pancytopenia, Extramedullary hematopoiesis, Osteomyelitis, Mandibular osteomyelitis, Hepatospleno... OMIM:259710
Autoinflammation With Episodic Fever And Lymphadenopathy
Hepatomegaly, Rheumatoid factor positive, Microcytic anemia, Antinuclear antibody positivity, Spl... OMIM:618852
Neurodevelopmental Disorder With Spasticity, Hypomyelinating Leukodystrophy, And Brain Abnormalities
Pulmonary hypoplasia OMIM:616531
Immunodeficiency, Common Variable, 8, With Autoimmunity
Atrophic gastritis, Generalized lymphadenopathy, Uveitis, Inflammation of the large intestine, Co... OMIM:614700
Immunodeficiency 62
Autoimmune thrombocytopenia, Recurrent upper respiratory tract infections, Bronchiectasis, Increa... OMIM:618459
Dermatomyositis
Recurrent respiratory infections, Pericarditis, Abnormal eosinophil morphology, Autoimmunity, Gas... ORPHA:221
Autosomal Dominant Severe Congenital Neutropenia
Acute myeloid leukemia, Recurrent sinopulmonary infections, Aplastic anemia, Eosinophilia, Myelod... ORPHA:486
Lipodystrophy, Partial, Acquired, With Low Complement Component C3, With Or Without Glomerulonephritis
Hematuria, Nephrotic syndrome, Membranoproliferative glomerulonephritis, Proteinuria OMIM:613913
Idiopathic Steroid-Resistant Nephrotic Syndrome
Diffuse mesangial sclerosis, Foamy urine, Proteinuria, Minimal change glomerulonephritis, Pulmona... ORPHA:567548
Cortical Dysplasia, Complex, With Other Brain Malformations 9
Short stature, Pulmonary hypoplasia OMIM:618174
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Hemolytic anemia, Acute pancreatitis, Rheumatoid factor positive, Abscess, Eczema, Perianal absce... OMIM:618935
Obesity
Increased waist to hip ratio, Obesity OMIM:601665
Cystic Echinococcosis
Abnormal peritoneum morphology, Hepatomegaly, Multiple pulmonary cysts, Pulmonary cyst, Elevated ... ORPHA:400
Immunodeficiency 102
Hepatomegaly, Recurrent skin infections, Autoimmune thrombocytopenia, Nodular regenerative hyperp... OMIM:301082
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Splenomegaly, Hepatomegaly, Persistence of hemoglobin F, Anemia ORPHA:46532
Sarcoma, Synovial
Synovial sarcoma OMIM:300813
Alveolar Soft Part Sarcoma
Alveolar soft part sarcoma OMIM:606243
Gamma-Heavy Chain Disease
Hepatomegaly, Autoimmune hemolytic anemia, Recurrent respiratory infections, Skin rash, Autoimmun... ORPHA:100026
Immunodeficiency 109 With Lymphoproliferation
Pancytopenia, Generalized lymphadenopathy, Splenomegaly, Bronchiectasis, Hodgkin lymphoma, Absent... OMIM:620282
Microcephaly-Glomerulonephritis-Marfanoid Habitus Syndrome
Chronic kidney disease, Glomerulonephritis ORPHA:2172
Immunodeficiency 84
Splenomegaly, B lymphocytopenia, B-cell lymphoma OMIM:619437
Maffucci Syndrome
Neoplasm of the adrenal cortex, Chondrosarcoma, Astrocytoma, Hemangiomatosis, Neoplasm of the par... ORPHA:163634
Isolated Congenital Hypoglossia/Aglossia
Respiratory distress, Dyspnea, Upper airway obstruction, Aspiration pneumonia, Hamartoma ORPHA:141152
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type
Aplasia/Hypoplasia of the lungs, Splenomegaly, Short stature, Hepatomegaly ORPHA:2204
Infantile Myofibromatosis
Neoplasm of the pancreas, Benign neoplasm of the central nervous system, Gingival fibromatosis, N... ORPHA:2591
Paraneoplastic Pemphigus
B-cell lymphoma, Thymoma, Sarcoma ORPHA:63455
Progressive Familial Intrahepatic Cholestasis
Hepatomegaly, Splenomegaly, Jaundice, Cholestasis, Neoplasm, Failure to thrive ORPHA:172
Spermatogenic Failure, X-Linked, 1
Obesity OMIM:305700
Complement Component C1S Deficiency
Hepatitis, Hashimoto thyroiditis, Systemic lupus erythematosus OMIM:613783
Galloway-Mowat Syndrome 2, X-Linked
Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidney disease, Nephrotic syndrom... OMIM:301006
Simple Cryoglobulinemia
Viral hepatitis, Renal insufficiency, Membranoproliferative glomerulonephritis, Proteinuria, B-ce... ORPHA:91139
Renal-Hepatic-Pancreatic Dysplasia 1
Hepatomegaly, Pancreatic fibrosis, Portal hypertension, Malformation of the hepatic ductal plate,... OMIM:208540
Microcephaly, Growth Restriction, And Increased Sister Chromatid Exchange 2
Increased susceptibility to spontaneous sister chromatid exchange OMIM:618097
Fanconi Anemia, Complementation Group N
Nephroblastoma, Medulloblastoma, Neuroblastoma, Chromosomal breakage induced by crosslinking agents OMIM:610832
Immunodeficiency 32B
Hepatomegaly, Recurrent respiratory infections, Neutrophilia, Sinusitis, Eosinophilia, Pneumonia,... OMIM:226990
Immunodeficiency 60 And Autoimmunity
Recurrent sinopulmonary infections, Pancytopenia, Splenomegaly, Bronchiectasis, Ulcerative coliti... OMIM:618394
Coenzyme Q10 Deficiency, Primary, 8
Postnatal growth retardation, Intrauterine growth retardation, Pulmonary hypoplasia OMIM:616733
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Hypersplenism, Splenomegaly, Pancytopenia, Decreased helper T cell proportion OMIM:183350
Hemoglobin H Disease
Hemolytic anemia, Hepatomegaly, Splenomegaly, Reduced alpha/beta synthesis ratio, HbH hemoglobin OMIM:613978
Renal Tubular Dysgenesis
Pulmonary hypoplasia ORPHA:3033
Hereditary Spherocytosis
Reticulocytosis, Hepatomegaly, Spontaneous hemolytic crises, Extramedullary hematopoiesis, Maculo... ORPHA:822
Lymphoproliferative Syndrome 1
Hepatomegaly, Pancytopenia, Autoimmune hemolytic anemia, Lymphoproliferative disorder, B-cell lym... OMIM:613011
Tularemia
Respiratory distress, Brain abscess, Skin rash, Pneumonia, Erythema nodosum, Abnormal nasopharyng... ORPHA:3392
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism
Splenomegaly, Jaundice, Nonspherocytic hemolytic anemia OMIM:206400
Fanconi Anemia, Complementation Group J
Chromosomal breakage induced by crosslinking agents OMIM:609054
Caspase 8 Deficiency
Recurrent sinopulmonary infections, Eczema, Pneumonia, Splenomegaly, Asthma, Lymphadenopathy, Dec... OMIM:607271
Bacterial Toxic-Shock Syndrome
Respiratory distress, Fasciitis, Sinusitis, Myositis, Tachypnea, Increased circulating myelocyte ... ORPHA:36234
Anencephaly 1
Anencephaly, Spina bifida OMIM:206500
Q Fever
Respiratory distress, Rheumatoid factor positive, Abnormality of the liver, Cholecystitis, Cough,... ORPHA:781
Leukocyte Adhesion Deficiency
Sinusitis, Severe periodontitis, Conjunctivitis, Otitis media, Vaginitis, Polycythemia, Hemolytic... ORPHA:2968
Matthew-Wood Syndrome
Abnormal lung morphology, Aplasia/Hypoplasia of the pancreas, Abnormal spleen morphology, Pulmona... ORPHA:2470
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase
Splenomegaly, Recurrent pancreatitis OMIM:118830
Systemic Lupus Erythematosus 17
Autoimmune thrombocytopenia, Antinuclear antibody positivity, Malar rash, Systemic lupus erythema... OMIM:301080
Common Variable Immunodeficiency
Hemolytic anemia, Recurrent respiratory infections, Pneumonia, Autoimmune thrombocytopenia, Gastr... ORPHA:1572
Triglyceride Storage Disease, Type Ii
Obesity OMIM:190430
Follicular Lymphoma
Abnormal peritoneum morphology, Splenomegaly, Mediastinal lymphadenopathy, Lymphoma, Lymphadenopa... ORPHA:545
Alpha-1-Antitrypsin Deficiency
Chronic bronchitis, Hepatocellular carcinoma, Splenomegaly, Dyspnea, Chronic pulmonary obstructio... OMIM:613490
Prader-Willi syndrome (Type 1)
Truncal obesity DECIPHER:14
Prader-Willi Syndrome (Type 2)
Truncal obesity DECIPHER:53
Obesity Due To Prohormone Convertase I Deficiency
Increased adipose tissue, Obesity, Cholestasis, Failure to thrive, Childhood-onset truncal obesity ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Increased adipose tissue, Obesity, Cholestasis, Failure to thrive, Childhood-onset truncal obesity ORPHA:71526
Arthrogryposis Multiplex Congenita 1, Neurogenic, With Myelin Defect
Stillbirth, Pulmonary hypoplasia OMIM:617468
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive
Pneumonia, Purulent rhinitis, T lymphocytopenia, Arthritis, B lymphocytopenia, Conjunctivitis, Ot... OMIM:601457
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Squamous cell carcinoma, Prostate cancer, Neutropenia, B-cell lymphoma, Myelodysplasia, T-cell ly... ORPHA:158057
Fragile X Syndrome
Macroorchidism, postpubertal, Folate-dependent fragile site at Xq28, Congenital macroorchidism OMIM:300624
Fanconi Anemia, Complementation Group O
Cryptorchidism, Chromosome breakage OMIM:613390
Alpha-Thalassemia-Myelodysplastic Syndrome
Myelodysplasia, Microcytic anemia, Splenomegaly, Acute leukemia, Neutropenia, HbH hemoglobin, Thr... ORPHA:231401
Pulmonary Alveolar Proteinosis, Acquired
Brain abscess, Recurrent respiratory infections, Lung abscess, Pneumonia, Anti-granulocyte-macrop... OMIM:610910
Membranoproliferative Glomerulonephritis, X-Linked
Membranoproliferative glomerulonephritis OMIM:305800
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia
Macrocytic anemia, Pancytopenia, Autoimmunity, Anemia of inadequate production, Megaloblastic ane... OMIM:617780
Goodpasture Syndrome
Nodular pattern on pulmonary HRCT, Crackles, Tachypnea, Cough, Anti-glomerular basement membrane-... OMIM:233450
Ciliary Dyskinesia, Primary, 9
Neonatal respiratory distress, Pneumonia, Decreased nasal nitric oxide, Bronchiectasis, Chronic r... OMIM:612444
Anti-Glomerular Basement Membrane Disease
Glomerulopathy, Renal insufficiency, Proteinuria, Autoimmunity, Respiratory insufficiency, Hematu... ORPHA:375
Lymphatic Filariasis
Lymphadenitis, Abnormal lung morphology, Knee osteoarthritis, Cough, Lymphangiectasis, Abnormalit... ORPHA:2035
Bardet-Biedl Syndrome 11
Obesity OMIM:615988
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Chronic oral candidiasis, Abscess, Abnormal CD4:CD8 ratio, Splenomegaly, Recurrent pneumonia, Neu... OMIM:150550
Immunodeficiency 13
Lymphopenia, Recurrent upper respiratory tract infections, Recurrent pneumonia, Bronchiectasis, B... OMIM:615518
Complement Factor I Deficiency
Renal insufficiency, Recurrent urinary tract infections, Recurrent skin infections, Glomeruloneph... OMIM:610984
Thumb Stiffness-Brachydactyly-Intellectual Disability Syndrome
Obesity ORPHA:1078
Immunodeficiency 11B With Atopic Dermatitis
Pneumonia, Eosinophilia, Asthma, Atopic dermatitis, Bronchiectasis, Ulcerative colitis, Colonic e... OMIM:617638
Combined Immunodeficiency Due To Crac Channel Dysfunction
Hemolytic anemia, Hepatomegaly, Autoimmunity, Pneumonia, Splenomegaly, Lymphadenopathy, Neoplasm,... ORPHA:169090
Lethal Congenital Contracture Syndrome 1
Neonatal death, Pulmonary hypoplasia OMIM:253310
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome
Pulmonary hypoplasia ORPHA:2141
Pallister-Hall-Like Syndrome
Occipital encephalocele, Short stature, Pulmonary hypoplasia, Death in infancy OMIM:241800
Selective Igm Deficiency
Fasciitis, Lymphadenitis, Recurrent cutaneous fungal infections, Decreased proportion of transiti... ORPHA:331235
Purine Nucleoside Phosphorylase Deficiency
Autoimmune hemolytic anemia, Sinusitis, Recurrent urinary tract infections, Pneumonia, Pure red c... OMIM:613179
Gray Platelet Syndrome
Splenomegaly, Myelodysplasia, Thrombocytopenia ORPHA:721
Encephalopathy Due To Prosaposin Deficiency
Splenomegaly, Hepatomegaly, Recurrent respiratory infections, Respiratory insufficiency ORPHA:139406
Bardet-Biedl Syndrome 14
Obesity OMIM:615991
Nephrotic Syndrome, Type 11
Diffuse mesangial sclerosis, Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidn... OMIM:616730
Congenital Bile Acid Synthesis Defect Type 2
Dark urine, Giant cell hepatitis, Hepatomegaly, Extramedullary hematopoiesis, Elevated hepatic tr... ORPHA:79303
Immunodeficiency, Common Variable, 12, With Autoimmunity
Recurrent sinopulmonary infections, Autoimmune hemolytic anemia, Atrophic gastritis, Recurrent sk... OMIM:616576
Severe Combined Immunodeficiency, X-Linked
Impaired lymphocyte transformation with phytohemagglutinin, Hepatomegaly, Skin rash, Pneumonia, R... OMIM:300400
Narcolepsy Type 1
Obesity ORPHA:2073
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome
Splenomegaly, Pulmonary hypoplasia, Intrauterine growth retardation ORPHA:3035
Acquired Partial Lipodystrophy
Glomerulopathy, Proteinuria, Autoimmunity, Lymphocytosis, Microscopic hematuria, Hepatic steatosis ORPHA:79087
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Diffuse mesangial sclerosis, Hepatomegaly, Autoimmune hemolytic anemia, Severe B lymphocytopenia,... OMIM:102700
Systemic Sclerosis
Renal insufficiency, Barrett esophagus, Proteinuria, Glomerulonephritis, Pericarditis, Osteomyeli... ORPHA:90291
Hemoglobin D Disease
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A... ORPHA:90039
Bardet-Biedl Syndrome 13
Obesity OMIM:615990
Systemic-Onset Juvenile Idiopathic Arthritis
Hepatomegaly, Pericarditis, Anterior uveitis, Skin rash, Autoimmunity, Splenomegaly, Lymphadenopa... ORPHA:85414
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency
Autoimmunity, Absent peripheral lymph nodes in presence of infection, Eczema, Increased T cell co... ORPHA:98813
Radial-Renal Syndrome
Chromosome breakage OMIM:179280
Meckel Syndrome, Type 6
Occipital encephalocele, Absent gallbladder, Bilobed right lung, Anencephaly, Cystic liver diseas... OMIM:612284
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly
Hepatomegaly, Proteinuria, Glomerulonephritis, Stage 5 chronic kidney disease, Renal hypoplasia, ... OMIM:614376
Hypertriglyceridemia, Transient Infantile
Hepatomegaly, Splenomegaly, Hepatic fibrosis, Failure to thrive, Hepatic steatosis OMIM:614480
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Hepatomegaly, Autoimmune hemolytic anemia, Atrophic gastritis, Psoriasiform dermatitis, Eczema, A... OMIM:616100
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Generalized lymphadenopathy, Lymphadenitis, T lymphocytopenia, Leukopenia, Neutropenia, Chronic p... OMIM:618986
Hypocomplementemic Urticarial Vasculitis
Uveitis, Conjunctivitis, Cough, Emphysema, Hepatomegaly, Glomerulopathy, Lymphadenopathy, Restric... ORPHA:36412
Niemann-Pick Disease, Type B
Hepatomegaly, Recurrent respiratory infections, Bone-marrow foam cells, Thrombocytopenia, Splenom... OMIM:607616
Alpha-Thalassemia
Hemolytic anemia, Abnormal hemoglobin, Myelodysplasia, Microcytic anemia, Hypersplenism, Splenome... ORPHA:846
Hashimoto Thyroiditis
Autoimmune antibody positivity, Hashimoto thyroiditis OMIM:140300
Spondylospinal Thoracic Dysostosis
Pulmonary hypoplasia OMIM:601809
Lymphoproliferative Syndrome, X-Linked, 2
Hepatomegaly, Pancytopenia, Recurrent respiratory infections, Aplastic anemia, Acne, Recurrent sk... OMIM:300635
Galactose Epimerase Deficiency
Splenomegaly, Hepatomegaly, Jaundice, Weight loss ORPHA:79238
Alopecia Areata 1
Autoimmunity OMIM:104000
Idiopathic Achalasia
Wheezing, Recurrent aspiration pneumonia, Bronchitis, Cough ORPHA:930
Microlissencephaly
Pneumonia ORPHA:1083
Dominant Beta-Thalassemia
Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, Anisocytosis, ... ORPHA:231226
Immunodeficiency 97 With Autoinflammation
Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, Colitis, Elevated proportion of C... OMIM:619802
Galloway-Mowat Syndrome 7
Diffuse mesangial sclerosis, Proteinuria, Eczema, Minimal change glomerulonephritis, Stage 5 chro... OMIM:618348
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Hepatomegaly, Portal hypertension, Pancreatic cysts, Splenomegaly, Periportal fibrosis, Hepatic f... OMIM:263200
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly
Hydranencephaly, Stillbirth, Pulmonary hypoplasia, Neonatal death OMIM:236500
Alpha-Heavy Chain Disease
Hepatomegaly, Splenomegaly, Lymphoma, Lymphadenopathy, Ascites, Anemia ORPHA:100025
T-Cell Lymphoma, Subcutaneous Panniculitis-Like
Pancytopenia, Autoimmunity, Splenomegaly, Panniculitis, Hemophagocytosis, Subcutaneous panniculit... OMIM:618398
Unclassified Myelodysplastic Syndrome
Acute myeloid leukemia, Autoimmunity, Myelodysplasia, Leukocytosis, Bone marrow hypocellularity, ... ORPHA:98827
Lipodystrophy, Congenital Generalized, Type 3
Reduced subcutaneous adipose tissue, Hepatomegaly, Lipodystrophy, Splenomegaly, Hepatosplenomegal... OMIM:612526
Febrile Infection-Related Epilepsy Syndrome
Sinusitis, Autoimmunity, Cough ORPHA:163703
Persistent Polyclonal B-Cell Lymphocytosis
Splenomegaly, Hepatomegaly, Lymphocytosis OMIM:606445
Obesity Due To Melanocortin 4 Receptor Deficiency
Childhood-onset truncal obesity, Obesity, Increased adipose tissue ORPHA:71529
Fragile X Syndrome
Macroorchidism, Folate-dependent fragile site at Xq28 ORPHA:908
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Splenomegaly, Recurrent upper respiratory tract infections, Abnormal pulmonary interstitial morph... OMIM:613101
Atelosteogenesis, Type Ii
Death in infancy, Stillbirth, Pulmonary hypoplasia OMIM:256050
Simpson-Golabi-Behmel Syndrome, Type 2
Inguinal hernia, Obesity OMIM:300209
Lymphoid Interstitial Pneumonia
Crackles, Cough, Decreased DLCO, Hepatomegaly, Multiple pulmonary cysts, Respiratory tract infect... ORPHA:79128
Muscular Hypertonia, Lethal
Respiratory distress, Pneumonia OMIM:254120
Severe Intellectual Disability-Hypotonia-Strabismus-Coarse Face-Planovalgus Syndrome
Obesity ORPHA:436141
Sandhoff Disease
Splenomegaly, Hepatomegaly, Failure to thrive ORPHA:796
Intellectual Developmental Disorder, X-Linked, Syndromic, Wilson-Turner Type
Obesity OMIM:309585
Bardet-Biedl Syndrome 18
Obesity OMIM:615995
Hereditary Pulmonary Alveolar Proteinosis
Respiratory distress, Respiratory failure requiring assisted ventilation, Crazy paving pattern, C... ORPHA:264675
Proteus Syndrome
Splenomegaly, Multiple lipomas, Lipoma, Lymphangioma, Hemangioma OMIM:176920
Facioscapulohumeral Muscular Dystrophy 3, Digenic
Aspiration pneumonia OMIM:619477
X-Linked Intellectual Disability-Hypogonadism-Ichthyosis-Obesity-Short Stature Syndrome
Hernia of the abdominal wall, Obesity ORPHA:3055
Mitochondrial Complex Iv Deficiency, Nuclear Type 16
Chromosomal breakage induced by crosslinking agents OMIM:619060
Ciliary Dyskinesia, Primary, 25
Recurrent respiratory infections, Neonatal respiratory distress, Chronic bronchitis, Productive c... OMIM:615482
Systemic Lupus Erythematosus, Susceptibility To, 6
Pericarditis, Abnormality of the kidney, Antinuclear antibody positivity, Systemic lupus erythema... OMIM:609939
Galactosemia Iii
Splenomegaly, Hepatomegaly, Jaundice, Failure to thrive OMIM:230350
Lysinuric Protein Intolerance
Tubulointerstitial nephritis, Renal fibrosis, Leukopenia, Decreased glomerular filtration rate, H... ORPHA:470
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome
Hypospadias, Glomerulonephritis, Proteinuria, Nephrotic syndrome, Glomerular sclerosis OMIM:619428
Linear Iga Dermatosis
Renal neoplasm, Epistaxis, Autoimmunity, Bladder neoplasm, Inflammation of the large intestine ORPHA:46488
Juvenile Arthritis
Antinuclear antibody positivity, Thrombocytosis, Leukocytosis, Skin rash OMIM:618795
Immunodeficiency 69
Pancytopenia, Skin rash, Splenomegaly, Leukocytosis, Hepatosplenomegaly, Thrombocytosis, Anemia OMIM:618963
Ciliary Dyskinesia, Primary, 44
Neonatal respiratory distress, Reduced forced expiratory volume in one second, Reduced forced vit... OMIM:618781
Fanconi Anemia, Complementation Group F
Pneumonia, Cryptorchidism, Thrombocytopenia, Patent ductus arteriosus, Chromosomal breakage induc... OMIM:603467
Sarcoidosis, Susceptibility To, 2
Hepatomegaly, Erythema nodosum, Splenomegaly, Mediastinal lymphadenopathy, Dyspnea, Pneumothorax,... OMIM:612387
Insulin Autoimmune Syndrome
Arthralgia/arthritis, Autoimmune antibody positivity, Autoimmunity, Systemic lupus erythematosus ORPHA:411593
Postinfectious Vasculitis
Viral hepatitis, Inflammatory abnormality of the skin, Membranoproliferative glomerulonephritis, ... ORPHA:48435
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome
Macroorchidism, Folate-dependent fragile site at Xq28, Elevated circulating growth hormone concen... ORPHA:85327
Actinic Prurigo
Cheilitis, Pyoderma, Glomerulonephritis OMIM:174770
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Anemia, Splenomegaly, Abnormal hemoglobin, Thrombocytopenia ORPHA:231393
Autoimmune Hemolytic Anemia, Warm Type
Abnormal urinary color, Autoimmune hemolytic anemia, Lymphoproliferative disorder, Autoimmunity, ... ORPHA:90033
X-Linked Agammaglobulinemia
Recurrent cutaneous abscess formation, Sinusitis, Osteomyelitis, Abnormality of the tonsils, Auto... ORPHA:47
Beta-Thalassemia, Dominant Inclusion Body Type
Hepatomegaly, Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, Ery... OMIM:603902
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency
Chronic gastritis, Liver abscess, Cholangitis, Bronchitis, Cholecystitis, Psoriasiform dermatitis... ORPHA:183675
Idiopathic Chronic Eosinophilic Pneumonia
Autoimmunity, Crackles, Nonproductive cough, Leukocytosis, Atelectasis, Hypereosinophilia, Dyspne... ORPHA:2902
Immunodeficiency 98 With Autoinflammation, X-Linked
Hepatomegaly, Autoimmune hemolytic anemia, Chronic oral candidiasis, Splenomegaly, Lymphadenopath... OMIM:301078
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Hepatomegaly, Generalized lymphadenopathy, Aplasia of the thymus, Eosinophilia, Pneumonia, Spleno... OMIM:602450
Immunodeficiency 110 With Lymphoproliferation
Autoimmune hemolytic anemia, Lymphoproliferative disorder, Recurrent skin infections, Recurrent u... OMIM:614868
Lig4 Syndrome
Hepatomegaly, Hypoplasia of penis, Pancytopenia, Abnormality of chromosome stability, Cryptorchid... ORPHA:99812
Aspergillosis
Sinusitis, Cough, Neutropenia, Infectious encephalitis, Abnormality of the kidney, Chronic pulmon... ORPHA:1163
Xeroderma Pigmentosum, Complementation Group E
Melanoma, Basal cell carcinoma, Squamous cell carcinoma of the skin, Defective DNA repair after u... OMIM:278740
Progressive Osseous Heteroplasia
Sarcoma ORPHA:2762
Adrenocortical Carcinoma
Increased urinary cortisol level, Adrenocortical carcinoma, Abnormality of urine homeostasis, Lun... ORPHA:1501
Fanconi Anemia, Complementation Group P
Cryptorchidism, Chromosomal breakage induced by crosslinking agents, Squamous cell carcinoma OMIM:613951
Yellow Nail Syndrome
Renal neoplasm, Biliary tract neoplasm, Neoplasm of the lung, Hypoplasia of lymphatic vessels, Ne... ORPHA:662
Microphthalmia, Syndromic 9
Severe short stature, Short stature, Agenesis of pulmonary vessels, Alveolar capillary dysplasia,... OMIM:601186
Bardet-Biedl Syndrome 10
Obesity OMIM:615987
Werner Syndrome
Renal neoplasm, Acral lentiginous melanoma, Lipodystrophy, Lipoatrophy, Breast carcinoma, Squamou... ORPHA:902
Lupus Erythematosus Tumidus
Deep dermal perivascular inflammatory infiltrate, Antinuclear antibody positivity, Autoimmune ant... ORPHA:90283
Cerebral Dysgenesis, Neuropathy, Ichthyosis, And Palmoplantar Keratoderma Syndrome
Aspiration pneumonia OMIM:609528
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Eosinophilia, Pneumonia, Recurrent pneumonia, Hepatitis, Erythroderma, Hepatosplenomegaly, Otitis... ORPHA:169160
Beta-Thalassemia Major
Hepatomegaly, Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, ... ORPHA:231214
Hemophagocytic Lymphohistiocytosis, Familial, 4
Hepatomegaly, Skin rash, Splenomegaly, Jaundice, Lymphadenopathy, Anemia, Conjunctivitis, Hemopha... OMIM:603552
B-Cell Expansion With Nfkb And T-Cell Anergy
Splenomegaly, Increased B cell count OMIM:616452
Dermatofibrosarcoma Protuberans
Fibrosarcoma, Neoplasm of the skin ORPHA:31112
Cernunnos-Xlf Deficiency
Autoimmunity, Anemia, T lymphocytopenia, B lymphocytopenia, Lymphopenia, Thrombocytopenia ORPHA:169079
Achondrogenesis Type 2
Short stature, Pulmonary hypoplasia ORPHA:93296
Bardet-Biedl Syndrome 5
Obesity OMIM:615983
Congenital Disorder Of Glycosylation, Type Iic
Neutrophilia, Pneumonia, Periodontitis, Recurrent otitis media, Reduction of neutrophil motility,... OMIM:266265
Dyssegmental Dysplasia, Silverman-Handmaker Type
Occipital encephalocele, Severe short stature, Disproportionate short-limb short stature, Pulmona... OMIM:224410
Spinal Muscular Atrophy With Congenital Bone Fractures 2
Pulmonary hypoplasia OMIM:616867
Nijmegen Breakage Syndrome
Hemolytic anemia, Autoimmune hemolytic anemia, Recurrent sinopulmonary infections, Glioma, B-cell... ORPHA:647
Immunodeficiency 89 And Autoimmunity
Pulmonary bulla, Rheumatoid factor positive, Antinuclear antibody positivity, Asthma, Pleural thi... OMIM:619632
Ataxia-Pancytopenia Syndrome
Pancytopenia, Abnormal macrophage morphology, Abnormality of neutrophils, Splenomegaly, Acute mye... ORPHA:2585
Hyperbilirubinemia, Shunt, Primary
Reticulocytosis, Hepatomegaly, Anemia of inadequate production, Splenomegaly, Jaundice, Erythroid... OMIM:237800
Syndromic X-Linked Intellectual Disability 7
Obesity ORPHA:85274
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Hepatomegaly, Chronic oral candidiasis, Decreased proportion of naive T cells, Lymphoproliferativ... ORPHA:276
Lymphoproliferative Syndrome 2
Hepatomegaly, Pancytopenia, Aplastic anemia, Lymphoproliferative disorder, Splenomegaly, Lymphoma... OMIM:615122
Hemolytic Disease Of Fetus And Newborn, Rh-Induced
Splenomegaly, Hepatomegaly, Fetal ascites OMIM:619462
Pediatric Systemic Lupus Erythematosus
Myositis, Leukopenia, Lupus anticoagulant, Nephritis, Lymphadenopathy, Nephrotic syndrome, Microa... ORPHA:93552
Idiopathic Bronchiectasis
Crackles, Productive cough, Respiratory tract infection, Dyspnea, Wheezing, Emphysema, Bronchiect... ORPHA:60033
Gaucher Disease, Perinatal Lethal
Hepatomegaly, Splenomegaly, Hepatosplenomegaly, Anemia, Pulmonary hypoplasia, Neonatal death, Int... OMIM:608013
Frontal Encephalocele
Encephalocele, Hydrocephalus, Spina bifida ORPHA:1931
Li-Fraumeni Syndrome
Astrocytoma, Neoplasm of the central nervous system, Neoplasm, Thyroid carcinoma, Prostate cancer... ORPHA:524
Hypoinsulinemic Hypoglycemia With Hemihypertrophy
Truncal obesity, Obesity, Large for gestational age OMIM:240900
Intellectual Developmental Disorder, X-Linked 91
Obesity OMIM:300577
Amyloidosis, Familial Visceral
Hepatomegaly, Proteinuria, Skin rash, Splenomegaly, Cholestasis, Hematuria, Nephrotic syndrome, N... OMIM:105200
Obesity And Hypopigmentation
Overgrowth, Hepatic steatosis, Obesity OMIM:620195
Abdominal Obesity-Metabolic Syndrome 1
Abdominal obesity OMIM:605552
Abdominal Obesity-Metabolic Syndrome Quantitative Trait Locus 2
Abdominal obesity OMIM:605572
Legius Syndrome
Acute monocytic leukemia, Non-small cell lung carcinoma, Neurofibroma, Nephrolithiasis, Desmoid t... ORPHA:137605
Hemorrhagic Fever-Renal Syndrome
Respiratory distress, Anuria, Acute tubulointerstitial nephritis, Tubulointerstitial nephritis, C... ORPHA:340
Bloom Syndrome
Chromosome breakage, Abnormality of chromosome stability, Elevated hemoglobin A1c, Cryptorchidism... OMIM:210900
Macrophage Activation Syndrome
Hepatomegaly, Increased inflammatory response, Autoimmunity, Thrombocytopenia, Splenomegaly, Hepa... ORPHA:158061
Intellectual Developmental Disorder, X-Linked 97
Obesity OMIM:300803
Fanconi Anemia, Complementation Group Q
Chromosome breakage, Biliary atresia OMIM:615272
Lethal Hemolytic Anemia-Genital Anomalies Syndrome
Aplasia/Hypoplasia of the lungs, Splenomegaly, Anemia ORPHA:1046
Gillessen-Kaesbach-Nishimura Syndrome
Periportal fibrosis, Abnormal lung lobation, Pulmonary hypoplasia OMIM:263210
Ciliary Dyskinesia, Primary, 42
Pneumonia, Reduced forced vital capacity, Chronic pulmonary obstruction, Bronchiectasis, Respirat... OMIM:618695
Acquired Idiopathic Sideroblastic Anemia
Normocytic anemia, Hepatomegaly, Acute myeloid leukemia, Pancytopenia, Anemia of inadequate produ... ORPHA:75564
Mitochondrial Complex Iv Deficiency, Nuclear Type 14
Obesity OMIM:619058
Chromosome 16P13.3 Deletion Syndrome, Proximal
Failure to thrive, Obesity, Polysplenia, Facial hemangioma OMIM:610543
Tyrosinemia Type 1
Splenomegaly, Hepatomegaly, Hepatocellular carcinoma ORPHA:882
Liposarcoma
Weight loss, Sarcoma ORPHA:69078
Cholestasis-Lymphedema Syndrome
Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Abnormality of the lymphatic system, B... ORPHA:1414
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency
Obesity ORPHA:171706
Young Syndrome
Recurrent sinopulmonary infections, Congenital pulmonary airway malformation, Bronchiectasis, Rec... OMIM:279000
Omenn Syndrome
Hepatomegaly, Severe B lymphocytopenia, Eosinophilia, Pneumonia, Splenomegaly, Thrombocytopenia, ... OMIM:603554
1Q41Q42 Microdeletion Syndrome
Growth delay, Hyposegmentation of neutrophil nuclei, Short stature, Pulmonary hypoplasia ORPHA:250999
Mixed-Type Autoimmune Hemolytic Anemia
Abnormal urinary color, Autoimmune hemolytic anemia, Skin rash, Autoimmunity, Lymphoma, Systemic ... ORPHA:90036
Mu-Heavy Chain Disease
Hepatomegaly, Abnormal B cell count, Splenomegaly, Lymphadenopathy, Weight loss, Anemia ORPHA:100024
Inclusion Body Myositis
Autoimmunity ORPHA:611
Tonne-Kalscheuer Syndrome
Growth delay, Short stature, Pulmonary hypoplasia OMIM:300978
Apc-Related Attenuated Familial Adenomatous Polyposis
Neoplasm of the pancreas, Astrocytoma, Adrenocortical carcinoma, Pilomatrixoma, Medulloblastoma, ... ORPHA:247806
Thanatophoric Dysplasia
Disproportionate short-limb short stature, Pulmonary hypoplasia, Intrauterine growth retardation ORPHA:2655
Severe Acute Respiratory Syndrome
Respiratory distress, Respiratory failure requiring assisted ventilation, Dyspnea, Acute infectio... ORPHA:140896
Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities
Obesity OMIM:620270
Rigid Spine Syndrome
Abnormality on pulmonary function testing, Pneumonia, Respiratory insufficiency ORPHA:97244
Congenital Myopathy 1B, Autosomal Recessive
Recurrent respiratory infections, Pulmonary hypoplasia OMIM:255320
Lethal Congenital Contracture Syndrome Type 1
Short stature, Pulmonary hypoplasia ORPHA:1486
Congenital Diaphragmatic Hernia
Pulmonary hypoplasia ORPHA:2140
Preeclampsia
Elevated hepatic transaminase, Proteinuria, Autoimmunity, Abnormality of the kidney, Chronic kidn... ORPHA:275555
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance
Minimal change glomerulonephritis, Pulmonary embolism, Respiratory tract infection, Dyspnea, Chro... ORPHA:567546
Alg3-Cdg
Neural tube defect, Pulmonary hypoplasia, Decreased liver function ORPHA:79321
Xeroderma Pigmentosum, Complementation Group C
Defective DNA repair after ultraviolet radiation damage, Basal cell carcinoma, Squamous cell carc... OMIM:278720
Severe Combined Immunodeficiency Due To Dclre1C Deficiency
Skin rash, Autoimmunity, Hashimoto thyroiditis, Recurrent aphthous stomatitis, Otitis media, Chro... ORPHA:275
Ciliary Dyskinesia, Primary, 21
Neonatal respiratory distress, Atelectasis, Recurrent pneumonia, Bronchiectasis, Decreased nasal ... OMIM:615294
T-Cell Immunodeficiency With Thymic Aplasia
Recurrent urinary tract infections, Decreased proportion of naive T cells, Aplasia of the thymus,... ORPHA:83471
Hemoglobin C-Beta-Thalassemia Syndrome
Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia ORPHA:231242
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Hepatomegaly, Abnormal B cell count, Abnormal T cell count, Autoimmune hemolytic anemia, Eosinoph... ORPHA:331206
Ciliary Dyskinesia, Primary, 14
Recurrent respiratory infections, Neonatal respiratory distress, Chronic bronchitis, Wheezing, Re... OMIM:613807
Congenital Bile Acid Synthesis Defect Type 1
Hepatomegaly, Splenomegaly, Jaundice, Biliary tract abnormality, Cirrhosis, Failure to thrive, Ne... ORPHA:79301
Classic Hodgkin Lymphoma
Hepatomegaly, Splenomegaly, Lymphoma, Lymphadenopathy, Weight loss, Neoplasm, Bone marrow hypocel... ORPHA:391
Alport Syndrome 3A, Autosomal Dominant
Renal insufficiency, Glomerular basement membrane lamellation, Proteinuria, Glomerulonephritis, S... OMIM:104200
Ciliary Dyskinesia, Primary, 23
Neonatal respiratory distress, Productive cough, Recurrent pneumonia, Bronchiectasis, Respiratory... OMIM:615451
Odontochondrodysplasia 1
Recurrent respiratory infections, Death in infancy, Short stature, Mesomelic short stature, Pulmo... OMIM:184260
Thanatophoric Dysplasia, Glasgow Variant
Neonatal death, Anemia, Hepatosplenomegaly OMIM:273680
X-Linked Alport Syndrome-Diffuse Leiomyomatosis
Recurrent respiratory infections, Diffuse leiomyomatosis, Tracheobronchial leiomyomatosis, Vulvar... ORPHA:1018
Brachydactylous Dwarfism, Mseleni Type
Increased inflammatory response, Autoimmunity, Knee osteoarthritis, Hip osteoarthritis, Osteoarth... ORPHA:2619
Fanconi Anemia, Complementation Group B
Abnormality of chromosome stability, Aplastic anemia, Hypergonadotropic hypogonadism, Renal agene... OMIM:300514
Autism, Susceptibility To, X-Linked 6
Obesity OMIM:300872
Prolidase Deficiency
Hepatomegaly, Chronic lung disease, Eczema, Hyperimidodipeptiduria, Splenomegaly, Asthma, Recurre... OMIM:170100
Dyskeratosis Congenita, Autosomal Recessive 8
Pancytopenia, Pancolitis, Inflammation of the large intestine, B lymphocytopenia, Bone marrow hyp... OMIM:620133
Slc35A1-Cdg
Respiratory distress, Pneumonia, Giant platelets, Hypoxemia, Neutropenia, Abnormal platelet granu... ORPHA:238459
Mixed Connective Tissue Disease
Hemolytic anemia, Hepatomegaly, Myositis, Pericarditis, Autoimmunity, Skin rash, Gastritis, Media... ORPHA:809
Mucous Membrane Pemphigoid
Autoimmunity ORPHA:46486
Immunoglobulin A Deficiency 1
Recurrent respiratory infections, Autoimmunity OMIM:137100
Ciliary Dyskinesia, Primary, 33
Atelectasis, Recurrent pneumonia, Bronchiectasis, Chronic rhinitis, Cough, Recurrent otitis media... OMIM:616726
Spondyloenchondrodysplasia
Enchondroma, Autoimmune hemolytic anemia, Pancytopenia, Proteinuria, Autoimmunity, Pneumonia, Aut... ORPHA:1855
Cold Agglutinin Disease
Abnormal urinary color, Hemolytic anemia, Hepatomegaly, Autoimmunity, Splenomegaly, Lymphadenopathy ORPHA:56425
Multiple Acyl-Coa Dehydrogenase Deficiency
Hepatomegaly, Jaundice, Pulmonary hypoplasia, Neonatal death, Hepatic periportal necrosis, Hepati... OMIM:231680
Bone Marrow Failure Syndrome 3
Acute myeloid leukemia, Chromosome breakage, Pancytopenia, Aplastic anemia, Eczema, Pancreatic st... OMIM:617052
Fusariosis
Fasciitis, Sinusitis, Myositis, Abnormality of the spleen, Abnormality of the liver, Neutropenia,... ORPHA:228119
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull
Pulmonary hypoplasia OMIM:601163
Neonatal Severe Primary Hyperparathyroidism
Splenomegaly, Hepatomegaly ORPHA:417
Ophthalmoplegia, External, And Myopia
Spina bifida OMIM:311000
Drug-Induced Lupus Erythematosus
Pericarditis, Antinuclear antibody positivity, Dyspnea, Autoimmune antibody positivity, Hematuria... ORPHA:231111
Fanconi Anemia, Complementation Group V
Chromosomal breakage induced by crosslinking agents, Thrombocytopenia, Bone marrow hypocellularit... OMIM:617243
Whim Syndrome 1
Recurrent upper respiratory tract infections, Bronchiectasis, Neutropenia, Abnormality of female ... OMIM:193670
Primary Pulmonary Hypoplasia
Recurrent respiratory infections, Pneumothorax, Abnormal pulmonary artery morphology, Pulmonary h... ORPHA:2257
Riddle Syndrome
Generalized lymphadenopathy, Pneumonia, Bronchitis, Neonatal asphyxia, Recurrent pneumonia, Abnor... ORPHA:420741
Schnitzler Syndrome
Hepatomegaly, Skin rash, Splenomegaly, Leukocytosis, Lymphoma, Lymphadenopathy, Arthritis, Anemia ORPHA:37748
Sea-Blue Histiocyte Disease
Splenomegaly, Thrombocytopenia, Cirrhosis, Sea-blue histiocytosis OMIM:269600
Aicardi-Goutieres Syndrome 6
Hemolytic anemia, Hepatomegaly, Chilblains, Splenomegaly, Thrombocytopenia OMIM:615010
Ciliary Dyskinesia, Primary, 39
Decreased nasal nitric oxide, Bronchiectasis, Cough, Recurrent otitis media, Recurrent lower resp... OMIM:618254
Classic Mycosis Fungoides
Hepatomegaly, Cutaneous T-cell lymphoma, Splenomegaly, Lymphoma, Lymphadenopathy, Neoplasm of the... ORPHA:2584
Osteopetrosis, Autosomal Recessive 5
Hepatomegaly, Pancytopenia, Extramedullary hematopoiesis, Thrombocytopenia, Leukocytosis, Splenom... OMIM:259720
Purine Nucleoside Phosphorylase Deficiency
Lymphopenia, Autoimmune hemolytic anemia, Recurrent respiratory infections, Autoimmunity, Autoimm... ORPHA:760
Red Cell Phospholipid Defect With Hemolysis
Splenomegaly, Reticulocytosis, Intermittent jaundice OMIM:179700
Opsoclonus-Myoclonus Syndrome
Ovarian teratoma, Small cell lung carcinoma, Autoimmune antibody positivity, Breast carcinoma, Ne... ORPHA:1183
Morbid Obesity And Spermatogenic Failure
Hepatic steatosis, Obesity OMIM:615703
Immunodeficiency 92
Hepatomegaly, Osteomyelitis, Cholangitis, Pneumonia, Leukocytosis, Decreased proportion of class-... OMIM:619652
Infantile Osteopetrosis With Neuroaxonal Dysplasia
Pneumonia ORPHA:85179
Immunodeficiency 57 With Autoinflammation
Recurrent respiratory infections, Skin rash, Gastritis, Perianal abscess, Bronchiectasis, T lymph... OMIM:618108
Ciliary Dyskinesia, Primary, 46
Reduced forced expiratory volume in one second, Reduced forced vital capacity, Recurrent pneumoni... OMIM:619436
Acrocephalopolydactylous Dysplasia
Hepatomegaly, Pancreatic fibrosis, Hepatic fibrosis, Pulmonary hypoplasia, Extrapulmonary sequest... OMIM:200995
Spondyloenchondrodysplasia With Immune Dysregulation
Recurrent respiratory infections, Autoimmunity, Pneumonia, Autoimmune thrombocytopenia, Antinucle... OMIM:607944
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Truncal obesity, Increased hepatic glycogen content, Enlarged tonsils, Large for gestational age ORPHA:293964
Hereditary Breast And/Or Ovarian Cancer Syndrome
Neoplasm of the pancreas, Breast carcinoma, Ovarian neoplasm, Melanoma, Prostate cancer ORPHA:145
Immunodeficiency By Defective Expression Of Mhc Class Ii
Recurrent respiratory infections, Pancytopenia, Autoimmune hemolytic anemia, Sinusitis, Autoimmun... ORPHA:572
Gardner Syndrome
Neoplasm of the pancreas, Astrocytoma, Brain neoplasm, Adrenocortical carcinoma, Pilomatrixoma, M... ORPHA:79665
Fanconi Anemia, Complementation Group E
Duplicated collecting system, Pancytopenia, Hypergonadotropic hypogonadism, Renal agenesis, Ectop... OMIM:600901
Mucus Inspissation Of Respiratory Tract
Recurrent respiratory infections, Atelectasis, Chronic pulmonary obstruction, Bronchiectasis, Chr... OMIM:253240
Ciliary Dyskinesia, Primary, 27
Recurrent respiratory infections, Neonatal respiratory distress, Bronchiectasis, Decreased nasal ... OMIM:615504
Fanconi Anemia, Complementation Group A
Duplicated collecting system, Pancytopenia, Hypergonadotropic hypogonadism, Renal agenesis, Ectop... OMIM:227650
Agammaglobulinemia 8B, Autosomal Recessive
Pancytopenia, Splenomegaly, B Acute Lymphoblastic Leukemia, Decreased proportion of CD8-positive,... OMIM:619824
Lymphoproliferative Syndrome, X-Linked, 1
Hepatomegaly, Pancytopenia, Recurrent respiratory infections, Aplastic anemia, Splenomegaly, Fulm... OMIM:308240
Ciliary Dyskinesia, Primary, 36, X-Linked
Recurrent respiratory infections, Neonatal respiratory distress, Bronchiectasis, Decreased nasal ... OMIM:300991
Immunodeficiency 42
Hepatomegaly, Splenomegaly, Recurrent cutaneous fungal infections, Hypoplasia of the thymus, Recu... OMIM:616622
Large Congenital Melanocytic Nevus
Rhabdomyosarcoma, Neoplasm, Neoplasm of the skin, Cutaneous melanoma, Sarcoma ORPHA:626
Summitt Syndrome
Obesity OMIM:272350
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies
Pulmonary artery atresia, Recurrent respiratory infections, Mesenteric cyst, Pulmonary hypoplasia OMIM:618316
Cd8 Deficiency, Familial
Absence of CD8-positive T cells, Recurrent respiratory infections, Bronchiectasis OMIM:608957
Staphylococcal Necrotizing Pneumonia
Respiratory distress, Neutrophilia, Pneumonia, Nonproductive cough, Leukocytosis, Tachypnea, Dysp... ORPHA:36238
Coronary Artery Disease, Autosomal Dominant, 1
Obesity OMIM:608320
Idiopathic Pulmonary Fibrosis
Crackles, Bronchiectasis, Abnormal pulmonary interstitial morphology, Honeycomb lung, Pulmonary f... ORPHA:2032
Meacham Syndrome
Accessory spleen, Death in infancy, Partial anomalous pulmonary venous return, Cardiac total anom... OMIM:608978
T-Cell Immunodeficiency With Thymic Aplasia
Aplasia of the thymus, Recurrent bronchopulmonary infections, Recurrent pneumonia, Bronchiectasis... OMIM:242700
Deafness-Lymphedema-Leukemia Syndrome
Hepatomegaly, Abnormal neutrophil count, Splenomegaly, Leukocytosis, Lymphadenopathy, Acute leuke... ORPHA:3226
Hereditary Motor And Sensory Neuropathy, Okinawa Type
Respiratory failure requiring assisted ventilation, Dyspnea, Respiratory failure, Abnormality of ... ORPHA:90117
Cholestasis, Progressive Familial Intrahepatic, 10
Hepatomegaly, Splenomegaly, Jaundice, Acholic stools, Portal fibrosis, Failure to thrive OMIM:619868
Glycosylphosphatidylinositol Biosynthesis Defect 1
Portal vein thrombosis, Hepatomegaly, Portal hypertension, Splenomegaly OMIM:610293
Mounier-Kühn Syndrome
Recurrent respiratory infections, Recurrent bronchopulmonary infections, Pneumonia, Bronchitis ORPHA:3347
Thanatophoric Dysplasia, Type I
Neonatal death, Disproportionate short-limb short stature, Lethal short-limbed short stature, Pul... OMIM:187600
Chronic Myeloid Leukemia
Splenomegaly, Leukocytosis, Abnormal granulocyte morphology, Myeloproliferative disorder, Thrombo... ORPHA:521
Icf Syndrome
Recurrent respiratory infections, Abnormality of chromosome stability, Abnormality of neutrophils... ORPHA:2268
Gaucher Disease Type 2
Splenomegaly, Hepatomegaly, Flexion contracture ORPHA:77260
Autoimmune Polyendocrinopathy Type 4
Macrocytic anemia, Antiphospholipid antibody positivity, Atrophic gastritis, Autoimmunity, Autoim... ORPHA:227990
Babesiosis
Hemolytic anemia, Renal insufficiency, Hepatomegaly, Splenomegaly, Jaundice, Recurrent pharyngiti... ORPHA:108
Acalvaria
Hydrocephalus, Holoprosencephaly, Spina bifida ORPHA:945
Familial Adenomatous Polyposis 1
Astrocytoma, Adrenocortical carcinoma, Fibroadenoma of the breast, Medulloblastoma, Desmoid tumor... OMIM:175100
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Hepatomegaly, Hypersplenism, Splenomegaly, Anemia, Thrombocytopenia OMIM:610539
Secondary Non-Traumatic Avascular Necrosis
Autoimmunity, Hematological neoplasm, Systemic lupus erythematosus, Neoplasm, Rheumatoid arthritis ORPHA:399180
Serkal Syndrome
Growth delay, Pulmonary hypoplasia ORPHA:139466
Carpenter Syndrome
Umbilical hernia, Obesity, Polysplenia ORPHA:65759
Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features
Failure to thrive in infancy, Obesity OMIM:613670
11Q22.2Q22.3 Microdeletion Syndrome
Hemangioma, Obesity ORPHA:444002
Diabetes Mellitus, Ketosis-Prone
Beta-cell dysfunction, Autoimmunity OMIM:612227
Cholestasis, Progressive Familial Intrahepatic, 12
Splenomegaly, Hepatomegaly, Jaundice, Cholestasis OMIM:620010
Fanconi Anemia, Complementation Group D2
Duplicated collecting system, Pancytopenia, Hypergonadotropic hypogonadism, Renal agenesis, Ectop... OMIM:227646
Familial Cold Autoinflammatory Syndrome 2
Skin rash, Erythema nodosum, Splenomegaly, Leukocytosis, Lymphadenopathy, Arthritis, Recurrent ap... OMIM:611762
Maternal Uniparental Disomy Of Chromosome 2
Miscarriage, Postnatal growth retardation, Respiratory infections in early life, Pulmonary hypopl... ORPHA:96179
Avian Influenza
Respiratory distress, Elevated hepatic transaminase, Pneumonia, Productive cough, Nonproductive c... ORPHA:454836
Splenoportal Vascular Anomalies
Anomalous splenoportal venous system, Splenomegaly, Hepatic fibrosis, Cirrhosis, Ascites OMIM:271500
Felty Syndrome
Splenomegaly, Rheumatoid arthritis, Neutropenia OMIM:134750
Ghosal Hematodiaphyseal Dysplasia
Splenomegaly, Anemia ORPHA:1802
Hernández-Aguirre Negrete Syndrome
Obesity ORPHA:2139
Indolent Systemic Mastocytosis
Hepatomegaly, Hematological neoplasm, Splenomegaly, Lymphadenopathy, Increased proportion of CD25... ORPHA:98848
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs
Pulmonary artery stenosis, Bilateral lung agenesis, Congenital pulmonary airway malformation, Pul... OMIM:611812
Fanconi Anemia, Complementation Group C
Duplicated collecting system, Pancytopenia, Hypergonadotropic hypogonadism, Renal agenesis, Ectop... OMIM:227645
Multiple Pterygium Syndrome, X-Linked
Intrauterine growth retardation, Pulmonary hypoplasia OMIM:312150
Syndromic Multisystem Autoimmune Disease Due To Itch Deficiency
Pancytopenia, Cholangitis, Portal hypertension, Autoimmunity, Hypersplenism, Anti-thyroid peroxid... ORPHA:228426
Melioidosis
Brain abscess, Foot osteomyelitis, Liver abscess, Lung abscess, Pneumonia, Respiratory tract infe... ORPHA:31202
Nephronophthisis-Like Nephropathy 2
Recurrent respiratory infections, Renal insufficiency, Polyuria, Bronchiectasis, Stage 5 chronic ... OMIM:619468
Scedosporiosis
Pericarditis, Arthralgia/arthritis, Sinusitis, Pneumonia, Bronchitis, Osteomyelitis, Bronchial br... ORPHA:449280
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections
Recurrent sinopulmonary infections, Eosinophilia, Eosinophilic infiltration of the esophagus, Ecz... OMIM:243700
Autoinflammation With Arthritis And Dyskeratosis
Hepatomegaly, Autoimmune hemolytic anemia, Antinuclear antibody positivity, Splenomegaly, Hypereo... OMIM:617388
Cubitus Valgus With Impaired Intellectual Development And Unusual Facies
Truncal obesity OMIM:300471
Pfapa Syndrome
Splenomegaly, Hepatomegaly, Weight loss, Lymphadenopathy ORPHA:42642
11P15.4 Microduplication Syndrome
Obesity ORPHA:300305
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome
Reticulocytosis, HbS hemoglobin, Asplenia, Splenomegaly, Splenic infarction, Hypochromic microcyt... ORPHA:251380
Autosomal Recessive Polycystic Kidney Disease
Cholangiocarcinoma, Spontaneous pneumothorax, Cholangitis, Portal hypertension, Hypersplenism, Sp... ORPHA:731
Tracheobronchopathia Osteochondroplastica
Recurrent respiratory infections, Pneumonia, Bronchitis, Productive cough, Atelectasis, Wheezing,... ORPHA:3348
Meige Disease
Absence of lymph node germinal center, Angiosarcoma, Lymph node hypoplasia, Atypical scarring of ... ORPHA:90186
Autoimmune Polyendocrinopathy Type 3
Macrocytic anemia, Antiphospholipid antibody positivity, Atrophic gastritis, Autoimmunity, Autoim... ORPHA:227982
Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies
Hepatosplenomegaly, Fibroma, Lymphadenopathy, Microcytic anemia OMIM:619750
Neonatal Lupus Erythematosus
Hepatomegaly, Hemolytic anemia, Pancytopenia, Aplastic anemia, Maculopapular exanthema, Skin rash... ORPHA:398124
Fetal Akinesia Deformation Sequence
Intrauterine growth retardation, Pulmonary hypoplasia ORPHA:994
Nodular Non-Suppurative Panniculitis
Hepatomegaly, Autoimmunity, Splenomegaly, Panniculitis, Inflammatory abnormality of the eye ORPHA:33577
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
T lymphocytopenia, Cough, Recurrent aspiration pneumonia, Hepatomegaly, Portal hypertension, Hepa... ORPHA:79124
Kagami-Ogata Syndrome
Splenomegaly, Pulmonary hypoplasia, Hepatomegaly OMIM:608149
Ciliary Dyskinesia, Primary, 3
Recurrent respiratory infections, Neonatal respiratory distress, Bronchiectasis, Decreased nasal ... OMIM:608644
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Hepatomegaly, Splenomegaly, Obesity, Cholestasis, Hepatic fibrosis OMIM:615630
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Intrauterine growth retardation, Pleural effusion, Pulmonary hypoplasia OMIM:616897
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome
Neonatal death, Bilateral lung agenesis OMIM:601612
Allergic Bronchopulmonary Aspergillosis
Abnormal eosinophil morphology, Asthma, Bronchiectasis, Respiratory insufficiency, Cough, Pulmona... ORPHA:1164
Monosomy 22
Aplasia of the thymus, Schwannoma, Hypochromic microcytic anemia, Hepatosplenomegaly, Contracture... ORPHA:96123
Neural Tube Defects, Susceptibility To
Myelomeningocele, Spina bifida occulta, Anencephaly, Hydrocephalus OMIM:182940
Ciliary Dyskinesia, Primary, 7
Recurrent pneumonia, Decreased nasal nitric oxide, Bronchiectasis, Restrictive ventilatory defect... OMIM:611884
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome
Abnormal renal glomerulus morphology, Renal insufficiency, Membranoproliferative glomerulonephrit... OMIM:137940
Hemihyperplasia, Isolated
Myelomeningocele OMIM:235000
Bardet-Biedl Syndrome 16
Obesity OMIM:615993
Portal Hypertension, Noncirrhotic, 1
Splenomegaly, Hepatomegaly, Portal hypertension OMIM:617068
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2
Recurrent upper respiratory tract infections, B lymphocytopenia, Pneumonia, Chronic bronchitis OMIM:614069
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia
Recurrent respiratory infections, Hepatomegaly, Recurrent urinary tract infections, Recurrent ski... OMIM:620210
Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures
Obesity OMIM:616756
X-Linked Intellectual Disability-Global Development Delay-Facial Dysmorphism-Sacral Caudal Remnant Syndrome
Lipoma, Obesity ORPHA:480907
Igg4-Related Aortitis
Increased inflammatory response, Autoimmunity, Antinuclear antibody positivity, Cytoplasmic antin... ORPHA:449400
Xq27.3Q28 Duplication Syndrome
Truncal obesity, Failure to thrive ORPHA:261483
Cancer-Associated Retinopathy
Neoplasm of the pancreas, Pancreatic adenocarcinoma, Testicular neoplasm, Hematological neoplasm,... ORPHA:71505
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome
Respiratory tract infection, Nonproductive cough, Dyspnea, Chronic pulmonary obstruction, Hyperse... ORPHA:79127
Proteasome-Associated Autoinflammatory Syndrome 4
Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Flexion contracture, Lymphadenopathy, Ge... OMIM:619183
Ciliary Dyskinesia, Primary, 28
Recurrent respiratory infections, Neonatal respiratory distress, Bronchiectasis, Decreased nasal ... OMIM:615505
Cryptococcosis
Respiratory distress, Lymphoid leukemia, Osteomyelitis, Autoimmunity, Nodular pattern on pulmonar... ORPHA:1546
Multiple Pterygium Syndrome, Lethal Type
Intrauterine growth retardation, Pulmonary hypoplasia OMIM:253290
Pentalogy Of Cantrell
Encephalocele, Absent gallbladder, Anencephaly, Pulmonary hypoplasia, Polysplenia ORPHA:1335
Paternal Uniparental Disomy Of Chromosome 1
Membranoproliferative glomerulonephritis, Proteinuria, Macroscopic hematuria, Episodic hemolytic ... ORPHA:251004
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Recurrent respiratory infections, Death in infancy, Polycystic liver disease, Pancreatic fibrosis... OMIM:208500
Diaphanospondylodysostosis
Intrauterine growth retardation, Abnormal liver lobulation, Pulmonary hypoplasia, Disproportionat... OMIM:608022
Macrocephaly/Autism Syndrome
Hepatomegaly, Large for gestational age, Splenomegaly, Obesity, Overgrowth, Lymphopenia OMIM:605309
Short Stature Due To Primary Acid-Labile Subunit Deficiency
Truncal obesity ORPHA:140941
Hepatoportal Sclerosis
Portal hypertension, Nodular regenerative hyperplasia of liver, Portal vein thrombosis, Hypersple... ORPHA:64743
Ovarian Fibrothecoma
Diffuse leiomyomatosis, Ovarian fibroma, Peritonitis, Fibrosarcoma, Ascites ORPHA:314478
Acute Interstitial Pneumonia
Peribronchovascular interstitial thickening, Crackles, Nodular pattern on pulmonary HRCT, Nonprod... ORPHA:79126
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Respiratory insufficiency due to muscle weakness, Respiratory failure, Recurrent aspiration pneum... ORPHA:2590
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Obesity, Cardiomegaly ORPHA:88643
Ciliary Dyskinesia, Primary, 24
Neonatal respiratory distress, Chronic pulmonary obstruction, Decreased nasal nitric oxide, Bronc... OMIM:615481
Osteopetrosis, Autosomal Recessive 3
Distal renal tubular acidosis, Extramedullary hematopoiesis, Anemia, Hepatosplenomegaly OMIM:259730
Fanconi Anemia, Complementation Group R
Chromosomal breakage induced by crosslinking agents, Pelvic kidney, Bone marrow hypocellularity, ... OMIM:617244
Impaired Intellectual Development, Truncal Obesity, Retinal Dystrophy, And Micropenis Syndrome
Truncal obesity, Childhood-onset truncal obesity OMIM:610156
Anemia, Congenital Dyserythropoietic, Type Ii
Reticulocytosis, Anemia of inadequate production, Splenomegaly, Jaundice, Cholelithiasis OMIM:224100
Cryptorchidism-Arachnodactyly-Intellectual Disability Syndrome
Aplasia/Hypoplasia of the lungs, Recurrent respiratory infections ORPHA:1548
Ciliary Dyskinesia, Primary, 11
Recurrent respiratory infections, Neonatal respiratory distress, Bronchiectasis, Decreased nasal ... OMIM:612649
American Trypanosomiasis
Hepatomegaly, Skin rash, Splenomegaly, Dyspnea, Autoimmune antibody positivity, Myocarditis, Lymp... ORPHA:3386
Symptomatic Form Of Coffin-Lowry Syndrome In Female Carriers
Obesity ORPHA:276630
Majeed Syndrome
Hepatomegaly, Inflammatory abnormality of the skin, Osteomyelitis, Proteinuria, Acne, Glomerulopa... ORPHA:77297
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Oropharyngeal squamous cell carcinoma, Functional abnormality of the bladder, T lymphocytopenia, ... ORPHA:391487
Anemia, Congenital Dyserythropoietic, Type Ib
Reticulocytosis, Hepatomegaly, Anisocytosis, Anemia of inadequate production, Splenomegaly, Jaund... OMIM:615631
Cutis Laxa, Autosomal Recessive, Type Ic
Accessory spleen, Death in infancy, Atelectasis, Recurrent pneumonia, Growth delay, Hypoplasia of... OMIM:613177
Xeroderma Pigmentosum, Complementation Group A
Melanoma, Squamous cell carcinoma of the skin, Defective DNA repair after ultraviolet radiation d... OMIM:278700
Ciliary Dyskinesia, Primary, 1
Pneumonia, Asplenia, Atelectasis, Bronchiectasis, Immotile cilia, Chronic rhinitis, Chronic otiti... OMIM:244400
Hurler-Scheie Syndrome
Splenomegaly, Hepatomegaly, Abnormality of the tonsils, Hernia ORPHA:93476
Aredyld Syndrome
Hepatomegaly, Lipoatrophy, Abnormal dental enamel morphology, Cachexia, Splenomegaly, Refractory ... ORPHA:1133
Microcephaly-Micromelia Syndrome
Neonatal death, Intrauterine growth retardation, Pulmonary hypoplasia OMIM:251230
Immunodeficiency 22
Pericarditis, Abscess, Autoimmunity, Recurrent upper respiratory tract infections, Anemia, Pannic... OMIM:615758
Whim Syndrome
Sinusitis, Severe periodontitis, Pneumonia, Respiratory tract infection, Lymphadenitis, Atelectas... ORPHA:51636
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type
Rhizomelia, Stillbirth, Neonatal short-limb short stature, Pulmonary hypoplasia OMIM:151210
Ciliary Dyskinesia, Primary, 29
Recurrent respiratory infections, Atelectasis, Decreased nasal nitric oxide, Bronchiectasis, Cili... OMIM:615872
Platyspondylic Dysplasia, Torrance Type
Disproportionate short-limb short stature, Pulmonary hypoplasia ORPHA:85166
Myelofibrosis
Splenomegaly, Myeloproliferative disorder OMIM:254450
Pagod Syndrome
Encephalocele, Death in infancy, Short stature, Spina bifida, Abnormality of the spleen, Meningoc... ORPHA:991
Fanconi Anemia, Complementation Group I
Abnormal renal morphology, Renal hypoplasia, Horseshoe kidney, Bone marrow hypocellularity, Neutr... OMIM:609053
Jeune Syndrome
Aplasia/Hypoplasia of the lungs, Abnormality of the liver, Short stature ORPHA:474
Osteopetrosis, Autosomal Recessive 8
Hepatomegaly, Splenomegaly, Anemia, Failure to thrive, Thrombocytopenia OMIM:615085
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss
Splenomegaly, Jaundice, Cholestasis, Hepatic fibrosis, Hepatic bridging fibrosis OMIM:619658
Short-Rib Thoracic Dysplasia 12
Hepatomegaly, Splenomegaly, Atelectasis, Anencephaly, Periportal fibrosis, Pulmonary hypoplasia, ... OMIM:269860
Fanconi Anemia, Complementation Group U
Chromosome breakage OMIM:617247
Good Syndrome
Abnormal leukocyte morphology, Recurrent respiratory infections, Recurrent urinary tract infectio... ORPHA:169105
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections
Recurrent respiratory infections, Osteomyelitis, Recurrent skin infections, Eosinophilia, Eczema,... OMIM:618282
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis
Hepatomegaly, Skin rash, Allergic rhinitis, Anemia of inadequate production, Splenomegaly, Jaundi... OMIM:612714
Lethal Congenital Contracture Syndrome 10
Intrauterine growth retardation, Hypoplasia of the thymus, Pulmonary hypoplasia OMIM:617022
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Neonatal death, Pulmonary hypoplasia OMIM:314390
Ciliary Dyskinesia, Primary, 26
Recurrent respiratory infections, Neonatal respiratory distress, Bronchiectasis, Decreased nasal ... OMIM:615500
Legionnaires Disease
Renal insufficiency, Pericarditis, Proteinuria, Abnormal pleura morphology, Splenomegaly, Jaundic... ORPHA:549
Ciliary Dyskinesia, Primary, 35
Neonatal respiratory distress, Productive cough, Recurrent pneumonia, Bronchiectasis, Decreased n... OMIM:617092
Hemochromatosis, Type 2B
Hepatomegaly, Splenomegaly, Hepatic fibrosis, Cirrhosis, Anemia OMIM:613313
Eosinophilic Granulomatosis With Polyangiitis
Increased inflammatory response, Renal insufficiency, Myositis, Proteinuria, Eosinophilia, Autoim... ORPHA:183
Antisynthetase Syndrome
Recurrent respiratory infections, Myositis, Skin rash, Autoimmunity, Myocarditis, Abnormal pulmon... ORPHA:81
Cortisone Reductase Deficiency 2
Obesity OMIM:614662
Lipodystrophy, Familial Partial, Type 6
Abdominal obesity, Lipodystrophy, Hepatic steatosis OMIM:615980
Combined Oxidative Phosphorylation Deficiency 51
Neonatal respiratory distress, Respiratory failure, Aspiration pneumonia OMIM:619057
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly
Hepatic fibrosis, Pulmonary hypoplasia, Short stature OMIM:614091
Marden-Walker Syndrome
Postnatal growth retardation, Intrauterine growth retardation, Pulmonary hypoplasia OMIM:248700
Tuberous Sclerosis 2
Chordoma, Astrocytoma, Angiofibromas, Retinal hamartoma, Ependymoma, Gingival fibromatosis, Subep... OMIM:613254
Essential Thrombocythemia
Splenomegaly, Myelodysplasia, Abnormal platelet morphology, Acute leukemia ORPHA:3318
Dyssegmental Dysplasia, Silverman-Handmaker Type
Encephalocele, Severe short stature, Miscarriage, Pulmonary hypoplasia ORPHA:1865
Mirage Syndrome
Recurrent urinary tract infections, Hypergonadotropic hypogonadism, Hypospadias, Myelodysplasia, ... OMIM:617053
Muckle-Wells Syndrome
Episcleritis, Hepatomegaly, Skin rash, Splenomegaly, Uveitis, Nephrotic syndrome, Restrictive ven... ORPHA:575
Mehmo Syndrome
Small for gestational age, Obesity OMIM:300148
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Respiratory distress, Hepatomegaly, Renal insufficiency, Splenomegaly, Anemia, Neutropenia, Pancr... ORPHA:79312
Ciliary Dyskinesia, Primary, 32
Recurrent respiratory infections, Neonatal respiratory distress, Chronic pulmonary obstruction, B... OMIM:616481
Lissencephaly Type 3-Metacarpal Bone Dysplasia Syndrome
Intrauterine growth retardation, Pulmonary hypoplasia ORPHA:86822
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome
Hepatomegaly, Abnormal dental enamel morphology, Portal hypertension, Splenomegaly, Jaundice, Sca... ORPHA:59303
Overlap Myositis
Elevated hepatic transaminase, Autoimmunity, Abnormality of the kidney, Antinuclear antibody posi... ORPHA:206572
Wiskott-Aldrich Syndrome
Abnormal eosinophil morphology, Sinusitis, Microcytic anemia, Inflammation of the large intestine... ORPHA:906
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome
Anencephaly, Spina bifida ORPHA:2476
Nephronophthisis 2
Pulmonary hypoplasia OMIM:602088
Gaucher Disease, Type Iii
Hepatomegaly, Pancytopenia, Splenomegaly, Decreased body weight, Thrombocytopenia OMIM:231000
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Impaired lymphocyte transformation with phytohemagglutinin, Recurrent respiratory infections, Aut... OMIM:243150
Congenital Disorder Of Glycosylation, Type Iio
Hepatomegaly, Splenomegaly, Copper accumulation in liver, Hepatosplenomegaly, Cholestatic liver d... OMIM:616828
Body Mass Index Quantitative Trait Locus 20
Obesity, Tall stature OMIM:618406
Congenital Rubella Syndrome
Hepatomegaly, Skin rash, Splenomegaly, Jaundice, Patent ductus arteriosus, Anemia, Abnormality of... ORPHA:290
Mucopolysaccharidosis-Plus Syndrome
Respiratory distress, Hepatomegaly, Recurrent respiratory infections, Proteinuria, Splenomegaly, ... OMIM:617303
Laurence-Moon Syndrome
Congenital hepatic fibrosis, Obesity ORPHA:2377
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Hepatomegaly, Anisocytosis, Splenomegaly, Jaundice, Hepatosplenomegaly, Decreased mean corpuscula... OMIM:616860
Renal Tubular Dysgenesis
Pulmonary hypoplasia OMIM:267430
Vexas Syndrome
Macrocytic anemia, Inflammatory abnormality of the skin, Neutrophilic infiltration of the skin, C... OMIM:301054
Hepatic Veno-Occlusive Disease
Hepatomegaly, Jaundice, Ascites, Increased body weight ORPHA:890
Leishmaniasis
Hepatomegaly, Pancytopenia, Abnormal macrophage morphology, Splenomegaly, Lymphadenopathy, Anemia... ORPHA:507
Hemoglobin E Disease
Drug-sensitive hemolytic anemia, Abnormal hemoglobin, Anemia of inadequate production, Splenomega... ORPHA:2133
Ciliary Dyskinesia, Primary, 12
Recurrent respiratory infections, Neonatal respiratory distress, Chronic pulmonary obstruction, B... OMIM:612650
Bardet-Biedl Syndrome 22
Obesity, Large for gestational age OMIM:617119
Adult-Onset Still Disease
Hepatomegaly, Pericarditis, Neutrophilia, Generalized lymphadenopathy, Skin rash, Splenomegaly, L... ORPHA:829
Atelosteogenesis Type I
Neonatal short-trunk short stature, Rhizomelia, Abnormal pancreatic duct morphology, Pulmonary hy... ORPHA:1190
Tetraploidy
Aplasia/Hypoplasia of the lungs, Intrauterine growth retardation, Aplasia/Hypoplasia of the thymus ORPHA:3305
Acute Panmyelosis With Myelofibrosis
Acute myeloid leukemia, Pancytopenia, Splenomegaly, Acute myelomonocytic leukemia, Bone marrow hy... ORPHA:86843
Renal Hypodysplasia/Aplasia 1
Pulmonary hypoplasia OMIM:191830
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Pulmonary hypoplasia OMIM:617895
Microscopic Polyangiitis
Episcleritis, Increased inflammatory response, Renal insufficiency, Sinusitis, Pericarditis, Auto... ORPHA:727
Autosomal Agammaglobulinemia
Recurrent respiratory infections, Sinusitis, Osteomyelitis, Skin rash, Recurrent skin infections,... ORPHA:33110
Insulin-Resistance Syndrome Type B
Enlarged ovaries, Proteinuria, Autoimmunity, Pneumonia, Skin rash, Enlarged polycystic ovaries, A... ORPHA:2298
Czeizel-Losonci Syndrome
Myelomeningocele, Spina bifida occulta, Pulmonary hypoplasia, Spina bifida ORPHA:2437
Summitt Syndrome
Camptodactyly of finger, Obesity, Tall stature ORPHA:3210
Microsporidiosis
Myositis, Sinusitis, Cholangitis, Bronchitis, Abnormality of the spleen, Lymphadenitis, Abnormali... ORPHA:2552
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
Impaired lymphocyte transformation with phytohemagglutinin, Absent natural killer cells, Pneumoni... OMIM:600802
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly
Pancreatic fibrosis, Pulmonary hypoplasia, Short stature OMIM:615503
Bloom Syndrome
Bronchitis, Uveitis, Neoplasm, Neoplasm of the breast, Otitis media, Decreased proportion of CD4-... ORPHA:125
Pemphigus Erythematosus
Autoimmunity, Antinuclear antibody positivity, Anti-acetylcholine receptor antibody positivity, S... ORPHA:79480
Borjeson-Forssman-Lehmann Syndrome
Obesity OMIM:301900
Cholestasis-Lymphedema Syndrome
Hepatomegaly, Splenomegaly, Jaundice, Cirrhosis, Neonatal cholestatic liver disease OMIM:214900
Tracheal Agenesis
Aplasia/Hypoplasia of the lungs ORPHA:3346
Greenberg Dysplasia
Hepatomegaly, Rhizomelia, Large placenta, Abnormal lung lobation, Hepatic calcification, Hepatosp... OMIM:215140
Subcorneal Pustular Dermatosis
Autoimmunity, Pustule, Systemic lupus erythematosus, Rheumatoid arthritis, Multiple myeloma ORPHA:48377
Dermatitis Herpetiformis
Eczema, Autoimmunity, Microcytic anemia ORPHA:1656
X-Linked Centronuclear Myopathy
Respiratory distress, Respiratory failure requiring assisted ventilation, Recurrent respiratory i... ORPHA:596
Agnathia-Otocephaly Complex
Pulmonary hypoplasia OMIM:202650
Cocaine Intoxication
Respiratory distress, Pulmonary edema, Proteinuria, Glomerulonephritis, Diffuse alveolar hemorrha... ORPHA:90068
Thrombocythemia 1
Splenomegaly, Thrombocytosis OMIM:187950
Trisomy 5P
Obesity ORPHA:1742
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections
Recurrent skin infections, Asthma, Recurrent upper respiratory tract infections, Recurrent pneumo... OMIM:619752
Ciliary Dyskinesia, Primary, 5
Recurrent respiratory infections, Neonatal respiratory distress, Recurrent pneumonia, Bronchiecta... OMIM:608647
Lethal Intrauterine Growth Restriction-Cortical Malformation-Congenital Contractures Syndrome
Hydranencephaly, Intrauterine growth retardation, Abnormal pleura morphology, Aplasia/Hypoplasia ... ORPHA:2570
Graft Versus Host Disease
Fasciitis, Myositis, Maculopapular exanthema, Pneumonia, Inflammatory abnormality of the skin, Ja... ORPHA:39812
Drug-Induced Autoimmune Hemolytic Anemia
Splenomegaly, Abnormal urinary color, Autoimmune hemolytic anemia, Exertional dyspnea ORPHA:90037
Myasthenia Gravis
Hemolytic anemia, Myositis, Pure red cell aplasia, Dyspnea, Anti-acetylcholine receptor antibody ... ORPHA:589
Bardet-Biedl Syndrome 7
Obesity OMIM:615984
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form
Urethral stricture, Renal insufficiency, Recurrent skin infections, Glomerulonephritis, Chronic k... ORPHA:79408
X-Linked Sideroblastic Anemia
Splenomegaly, Anemia ORPHA:75563
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Reticulocytosis, Anisocytosis, Abnormal erythrocyte morphology, Reduced red cell pyruvate kinase ... ORPHA:766
Meckel Syndrome 14
Occipital encephalocele, Pneumothorax, Hepatic fibrosis, Pulmonary hypoplasia OMIM:619879
Familial Adenomatous Polyposis
Astrocytoma, Brain neoplasm, Soft tissue neoplasm, Angiofibromas, Papillary thyroid carcinoma, Ad... ORPHA:733
Acute Lung Injury
Respiratory distress, Acute pancreatitis, Pneumonia, Diffuse alveolar hemorrhage, Dyspnea, Tachyp... ORPHA:178320
Subependymal Nodular Heterotopia
Occipital encephalocele, Myelomeningocele, Meningocele, Nasofrontal encephalocele ORPHA:101030
Bardet-Biedl Syndrome 19
Hepatic steatosis, Obesity OMIM:615996
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis
Hip contracture, Inguinal hernia, Obesity, Truncal obesity, Enamel hypoplasia, Amelogenesis imper... OMIM:618363
Systemic Mastocytosis With Associated Hematologic Neoplasm
Normocytic anemia, Myeloid leukemia, Hepatomegaly, Neutrophilia, Myelodysplasia, Leukocytosis, Ly... ORPHA:98849
Tatton-Brown-Rahman Syndrome
Obesity, Proportionate tall stature, Umbilical hernia, Myeloid leukemia, Neuroendocrine neoplasm ORPHA:404443
Achondrogenesis
Aplasia/Hypoplasia of the lungs, Umbilical hernia, Severe short stature ORPHA:932
Sézary Syndrome
Hepatomegaly, Cutaneous T-cell lymphoma, Splenomegaly, Lymphoma, Lymphadenopathy, Neoplasm of the... ORPHA:3162
Ankylosing Vertebral Hyperostosis With Tylosis
Obesity ORPHA:2206
Lambert-Eaton Myasthenic Syndrome
Small cell lung carcinoma, Calcium channel antibody positivity, Keratoconjunctivitis sicca ORPHA:43393
Low Phospholipid-Associated Cholelithiasis
Liver abscess, Cholangitis, Overweight, Intrahepatic cholestasis, Biliary cirrhosis, Obesity, Neo... ORPHA:69663
Acro-Renal-Mandibular Syndrome
Intrauterine growth retardation, Abnormal lung lobation, Pulmonary hypoplasia ORPHA:958
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1
Sinusitis, Pneumonia, Bronchiectasis, T lymphocytopenia, Chronic bronchitis, Reduced natural kill... OMIM:242860
Achondrogenesis Type 1B
Aplasia/Hypoplasia of the lungs, Umbilical hernia, Disproportionate short stature, Severe short s... ORPHA:93298
Ciliary Dyskinesia, Primary, 15
Recurrent respiratory infections, Neonatal respiratory distress, Chronic bronchitis, Wheezing, Re... OMIM:613808
Congenital Lipomatous Overgrowth, Vascular Malformations, And Epidermal Nevi
Lipoma, Splenomegaly, Nephroblastoma, Overgrowth OMIM:612918
Sjogren Syndrome
Tubulointerstitial nephritis, Keratoconjunctivitis sicca, Autoimmunity, Rheumatoid arthritis OMIM:270150
Temple Syndrome
Small for gestational age, Overweight, Flexion contracture, Obesity, Truncal obesity OMIM:616222
Polymyositis
Hepatomegaly, Pericarditis, Abnormal renal tubule morphology, Autoimmunity, Abnormal pulmonary in... ORPHA:732
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia
Recurrent urinary tract infections, Sinusitis, Pneumonia, Enteroviral hepatitis, Prostatitis, Epi... OMIM:307200
Autoinflammation With Infantile Enterocolitis
Pancytopenia, Skin rash, Diffuse alveolar hemorrhage, Splenomegaly, Enterocolitis, Anemia, Reduce... OMIM:616050
Terminal Osseous Dysplasia
Camptodactyly of toe, Fibroma, Multiple joint contractures, Camptodactyly of finger OMIM:300244
Severe Congenital Nemaline Myopathy
Pulmonary hypoplasia ORPHA:171430
Microduplication Xp11.22P11.23 Syndrome
Obesity ORPHA:217377
Craniorachischisis
Cervical spina bifida, Myelomeningocele, Anencephaly, Sirenomelia, Spinal dysraphism ORPHA:63260
Pericardial And Diaphragmatic Defect
Pulmonary hypoplasia, Pulmonary sequestration ORPHA:2847
Camptodactyly With Muscular Hypoplasia, Skeletal Dysplasia, And Abnormal Palmar Creases
Spina bifida OMIM:211960
Tarp Syndrome
Extramedullary hematopoiesis, Apnea, Cryptorchidism, Horseshoe kidney, Pulmonary hypoplasia, Hydr... ORPHA:2886
Tetrasomy 5P
Postnatal growth retardation, Recurrent respiratory infections, Pulmonary hypoplasia ORPHA:3309
Bile Acid Synthesis Defect, Congenital, 5
Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Iron deficiency anemia, Portal fibrosi... OMIM:616278
Retinoblastoma
Glioma, Rhabdomyosarcoma, Lymphoma, Pineoblastoma, Leiomyosarcoma, Melanoma, Cellulitis, Retinobl... ORPHA:790
Nephronophthisis 15
Obesity OMIM:614845
Beta-Thalassemia
Hepatomegaly, Abnormal hemoglobin, Microcytic anemia, Thrombocytopenia, Splenomegaly, Hepatitis, ... ORPHA:848
Teebi Hypertelorism Syndrome 1
Short stature, Pulmonary hypoplasia OMIM:145420
Cholestasis, Progressive Familial Intrahepatic, 9
Hepatomegaly, Malformation of the hepatic ductal plate, Portal hypertension, Intrahepatic cholest... OMIM:619849
Ciliary Dyskinesia, Primary, 34
Neonatal respiratory distress, Reduced respiratory ciliary beating frequency, Decreased nasal nit... OMIM:617091
Bardet-Biedl Syndrome 4
Obesity OMIM:615982
Cholestasis, Progressive Familial Intrahepatic, 2
Hepatomegaly, Splenomegaly, Intrahepatic cholestasis, Intermittent jaundice, Cirrhosis, Hepatocel... OMIM:601847
Retinitis Pigmentosa
Atypical scarring of skin, Obesity ORPHA:791
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Leukopenia, Lupus anticoagulant, Hashimoto thyroiditis, Hepatomegaly, Renal artery aneurysm, Port... OMIM:615688
Meckel Syndrome, Type 2
Encephalocele, Intrauterine growth retardation, Meningocele, Anencephaly OMIM:603194
Glycogen Storage Disease Ixb
Splenomegaly, Hepatomegaly, Increased hepatic glycogen content OMIM:261750
Acromesomelic Dysplasia, Grebe Type
Sarcoma ORPHA:2098
Cholesteryl Ester Storage Disease
Splenomegaly, Hepatomegaly, Jaundice, Cirrhosis ORPHA:75234
Intellectual Developmental Disorder With Behavioral Abnormalities And Craniofacial Dysmorphism With Or Without Seizures
Obesity OMIM:618725
Fetal Gaucher Disease
Hepatomegaly, Pancytopenia, Splenomegaly, Abnormality of the spleen, Flexion contracture, Arthrog... ORPHA:85212
Subaortic Stenosis-Short Stature Syndrome
Inguinal hernia, Biliary tract abnormality, Obesity ORPHA:3191
Congenital Disorder Of Glycosylation, Type Iiw
Elevated hepatic transaminase, Hepatomegaly, Membranoproliferative glomerulonephritis, Elevated c... OMIM:619525
Shigellosis
Acute colitis, Pneumonia, Abscess, Hemolytic-uremic syndrome, Myocarditis, Leukocytosis, Urethrit... ORPHA:810
Ciliary Dyskinesia, Primary, 17
Recurrent respiratory infections, Bronchiectasis, Chronic rhinitis, Cough, Recurrent otitis media... OMIM:614679
Primary Ciliary Dyskinesia
Recurrent sinopulmonary infections, Neonatal respiratory distress, Peribronchovascular interstiti... ORPHA:244
Morm Syndrome
Truncal obesity ORPHA:75858
Chromosome 1Q41-Q42 Deletion Syndrome
Short stature, Pulmonary hypoplasia OMIM:612530
48,Xxyy Syndrome
Inguinal hernia, Abnormal dental enamel morphology, Lymphoma, Obesity, Tall stature ORPHA:10
Gastrointestinal Stromal Tumor
Gastrointestinal stroma tumor, Esophageal neoplasm, Abnormality of the liver, Anemia, Sarcoma ORPHA:44890
Rafiq Syndrome
Truncal obesity, Flexion contracture, Obesity OMIM:614202
Meckel Syndrome, Type 4
Encephalocele, Hydrocephalus, Meningocele, Anencephaly, Intrauterine growth retardation OMIM:611134
Infant Acute Respiratory Distress Syndrome
Pneumonia, Respiratory tract infection, Atelectasis, Nasal flaring, Tachypnea, Hypoxemia, Respira... ORPHA:70587
Aminopterin/Methotrexate Embryofetopathy
Encephalocele, Short stature, Hydrocephalus, Meningocele, Anencephaly, Spinal dysraphism, Holopro... ORPHA:1908
Refractory Celiac Disease
Normocytic anemia, Macrocytic anemia, Inflammatory abnormality of the skin, Microcytic anemia, In... ORPHA:398063
Xeroderma Pigmentosum, Complementation Group D
Melanoma, Defective DNA repair after ultraviolet radiation damage OMIM:278730
Spinal Muscular Atrophy With Congenital Bone Fractures 1
Pulmonary hypoplasia OMIM:616866
Wilson Disease
Hepatomegaly, Thrombocytopenia, Splenomegaly, Jaundice, Hepatitis, Increased body weight, Weight ... ORPHA:905
Alpha-Mannosidosis, Adult Form
Hepatosplenomegaly, Pancytopenia, Pneumonia, Oligosacchariduria ORPHA:309288
Hereditary Orotic Aciduria
Recurrent respiratory infections, Orotic acid crystalluria, Splenomegaly, Patent ductus arteriosu... ORPHA:30
Fanconi Anemia
Leukopenia, Abnormality of the liver, Neoplasm, Abnormality of the uterus, Hypospadias, Myelodysp... ORPHA:84
Pancreatic Cancer
Neoplasm of the pancreas OMIM:260350
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Leukopenia, Hypoplasia of the thymus, Otitis media, Neutropenia, Hepatomegaly, Perianal abscess, ... OMIM:612541
Spherocytosis, Type 5
Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Abnormal platelet count... OMIM:612690
Ciliary Dyskinesia, Primary, 48, Without Situs Inversus
Recurrent otitis media, Recurrent pneumonia, Bronchiectasis, Recurrent sinusitis OMIM:620032
Thrombocytopenia With Beta-Thalassemia, X-Linked
Hemolytic anemia, Reticulocytosis, Increased RBC distribution width, Epistaxis, Reduced platelet ... OMIM:314050
Ciliary Dyskinesia, Primary, 16
Bronchiectasis, Abnormal ciliary motility, Chronic rhinitis, Chronic otitis media, Ciliary dyskin... OMIM:614017
Complement Factor B Deficiency
Peritonitis, Pneumonia OMIM:615561
Neurofibromatosis Type 1
Tall stature, Astrocytoma, Chronic myelogenous leukemia, Multiple lipomas, Neoplasm, Pheochromocy... ORPHA:636
Ciliary Dyskinesia, Primary, 30
Recurrent respiratory infections, Chronic bronchitis, Asthma, Bronchiectasis, Respiratory insuffi... OMIM:616037
Nail-Patella Syndrome
Renal insufficiency, Proteinuria, Glomerulonephritis, Hematuria, Nephrotic syndrome OMIM:161200
Mehmo Syndrome
Obesity ORPHA:85282
Bullous Pemphigoid
Psoriasiform dermatitis, Eczema, Autoimmunity ORPHA:703
Adams-Oliver Syndrome 5
Inguinal hernia, Portal vein thrombosis, Splenomegaly, Hypersplenism, Cavernous hemangioma, Umbil... OMIM:616028
Pulmonary Non-Tuberculous Mycobacterial Infection
Respiratory distress, Crackles, Dyspnea, Chronic pulmonary obstruction, Pneumothorax, Bronchiecta... ORPHA:411703
Nephronophthisis 19
Hepatomegaly, Malformation of the hepatic ductal plate, Splenomegaly, Cholestasis, Bile duct prol... OMIM:616217
Bronchial Neuroendocrine Tumor
Hepatomegaly, Pneumonia, Chronic noninfectious lymphadenopathy, Nonproductive cough, Dyspnea, Ast... ORPHA:97287
Immunodeficiency 93 And Hypertrophic Cardiomyopathy
Bronchiectasis, Decreased proportion of class-switched memory B cells, B lymphocytopenia, Absent ... OMIM:619705
Craniosynostosis, Herrmann-Opitz Type
Aplasia/Hypoplasia of the lungs, Intrauterine growth retardation, Short stature ORPHA:2145
Fanconi Anemia, Complementation Group L
Chromosome breakage, Unilateral renal agenesis, Chromosomal breakage induced by crosslinking agen... OMIM:614083
Ciliary Dyskinesia, Primary, 38
Neonatal respiratory distress, Productive cough, Decreased nasal nitric oxide, Bronchiectasis, Im... OMIM:618063
Schisis Association
Encephalocele, Anencephaly, Spina bifida ORPHA:63862
Autoimmune Disease, Multisystem, With Facial Dysmorphism
Hepatomegaly, Pancytopenia, Recurrent respiratory infections, Autoimmunity, Portal hypertension, ... OMIM:613385
Coccidioidomycosis
Respiratory distress, Abnormality of the spleen, Abnormality of the liver, Cough, Morbilliform ra... ORPHA:228123
Mitochondrial Complex I Deficiency, Nuclear Type 33
Hypospadias, Apnea, Bronchiectasis, Respiratory insufficiency, Aspiration pneumonia, Neutropenia OMIM:618253
Chromosome Xq21 Deletion Syndrome
Obesity OMIM:303110
Distal Triplication 15Q
Intrauterine growth retardation, Pulmonary hypoplasia ORPHA:314588
Wolman Disease
Hepatomegaly, Bone-marrow foam cells, Cachexia, Splenomegaly, Ascites, Anemia ORPHA:75233
Proteasome-Associated Autoinflammatory Syndrome 3
Hepatomegaly, Failure to thrive, Lipodystrophy, Splenomegaly, Flexion contracture, Lymphadenopath... OMIM:617591
Renal Agenesis, Bilateral
Pulmonary hypoplasia, Sirenomelia ORPHA:1848
Limited Cutaneous Systemic Sclerosis
Pulmonary arterial hypertension, Autoimmunity, Pulmonary fibrosis ORPHA:220402
Neurodevelopmental Disorder With Epilepsy And Brain Atrophy
Recurrent aspiration pneumonia OMIM:619971
Achondrogenesis Type 1A
Aplasia/Hypoplasia of the lungs, Umbilical hernia, Severe short stature ORPHA:93299
Peroxisome Biogenesis Disorder 1A (Zellweger)
Intrahepatic biliary dysgenesis, Hepatomegaly, Prolonged neonatal jaundice, Pulmonary hypoplasia,... OMIM:214100
Ciliary Dyskinesia, Primary, 43
Neonatal respiratory distress, Productive cough, Recurrent upper respiratory tract infections, Br... OMIM:618699
Chung-Jansen Syndrome
Obesity OMIM:617991
Impaired Intellectual Development, Obesity, Mandibular Prognathism, And Eye And Skin Anomalies
Obesity OMIM:606772
Polycystic Ovary Syndrome 1
Enlarged polycystic ovaries, Obesity OMIM:184700
Chromosome 13Q33-Q34 Deletion Syndrome
Encephalocele, Anencephaly, Pulmonary hypoplasia, Short stature OMIM:619148
Autosomal Recessive Multiple Pterygium Syndrome
Short stature, Pulmonary hypoplasia, Umbilical hernia, Spina bifida occulta, Intrauterine growth ... ORPHA:2990
Agammaglobulinemia, X-Linked
T lymphocytopenia, Conjunctivitis, Neutropenia, Infectious encephalitis, Enteroviral hepatitis, E... OMIM:300755
Nevus Comedonicus Syndrome
Spina bifida occulta, Spina bifida ORPHA:64754
Scrub Typhus
Anterior uveitis, Renal insufficiency, Skin rash, Splenomegaly, Dyspnea, Myocarditis, Lymphadenop... ORPHA:83317
Timothy Syndrome
Pneumonia, Bronchitis, Cardiomegaly, Patent ductus arteriosus, Pulmonary arterial hypertension OMIM:601005
Achondroplasia
Death in infancy, Neonatal short-limb short stature, Rhizomelia, Pulmonary hypoplasia OMIM:100800
Bare Lymphocyte Syndrome, Type I
Bronchiectasis, Bronchiolitis, Emphysema, Chronic sinusitis, Chronic otitis media, Recurrent bron... OMIM:604571
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea
Hepatomegaly, Crackles, Mediastinal lymphadenopathy, Leukocytosis, Atelectasis, Dyspnea, Bronchie... OMIM:620233
Orofaciodigital Syndrome Viii
Hamartoma, Recurrent aspiration pneumonia OMIM:300484
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations
Normocytic anemia, Proteinuria, Pneumonia, Skin rash, Nodular regenerative hyperplasia of liver, ... ORPHA:247691
Obesity, Hyperphagia, And Developmental Delay
Obesity OMIM:613886
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia
Skin rash, Antinuclear antibody positivity, Cervical lymphadenopathy, Recurrent pneumonia, Decrea... OMIM:617718
Spastic Paraplegia-Intellectual Disability-Nystagmus-Obesity Syndrome
Obesity ORPHA:521390
Immunodeficiency 31C
Impaired lymphocyte transformation with phytohemagglutinin, Hepatomegaly, Autoimmune hemolytic an... OMIM:614162
Familial Thrombocytosis
Acute myeloid leukemia, Myelodysplasia, Splenomegaly, Chronic myelogenous leukemia, Weight loss, ... ORPHA:71493
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency
Normocytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Normochromic anemia, Cholecystitis, N... OMIM:235700
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Keloids, Obesity ORPHA:3085
Gastrointestinal Defects And Immunodeficiency Syndrome 2
Pulmonary hypoplasia, Lymphopenia, Interstitial emphysema, Bronchiectasis OMIM:619708
Familial Nasal Acilia
Respiratory distress, Dyspnea, Atelectasis, Recurrent upper respiratory tract infections, Bronchi... ORPHA:922
Typhoid
Hepatomegaly, Skin rash, Epistaxis, Splenomegaly, Abnormal pulmonary interstitial morphology, Cou... ORPHA:99745
Hb Bart'S Hydrops Fetalis
Hepatomegaly, Pericarditis, Abnormal hemoglobin, Splenomegaly, Anemia ORPHA:163596
Gaucher Disease Type 1
Hepatomegaly, Pancytopenia, Proteinuria, Hypersplenism, Splenomegaly, Thrombocytopenia, Osteoarth... ORPHA:77259
Erythrocytosis, Familial, 8
Splenomegaly, Increased hematocrit, Polycythemia, Increased hemoglobin OMIM:222800
Portal Hypertension, Noncirrhotic, 2
Hepatomegaly, Portal hypertension, Nodular regenerative hyperplasia of liver, Splenomegaly, Hepat... OMIM:619463
Primary Sclerosing Cholangitis
Acute hepatic failure, Abnormal eosinophil morphology, Uveitis, Hepatic fibrosis, Neoplasm of the... ORPHA:171
Fgfr2-Related Bent Bone Dysplasia
Extramedullary hematopoiesis, Clitoral hypertrophy, Hepatosplenomegaly ORPHA:313855
Adult Acute Respiratory Distress Syndrome
Pneumonia, Dyspnea, Hypoxemia, Respiratory failure, Abnormal blood gas level, Pancreatitis, Pulmo... ORPHA:70578
Beta-Mercaptolactate Cysteine Disulfiduria
Umbilical hernia, Obesity ORPHA:1035
Familial Partial Lipodystrophy, Dunnigan Type
Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Lipodystrophy, Lipoatrophy, Splenomeg... ORPHA:2348
Scimitar Syndrome
Recurrent respiratory infections, Abnormal lung morphology, Partial anomalous pulmonary venous re... ORPHA:185
Sea-Blue Histiocytosis
Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Sea-blue histiocytosis, Thrombocytopenia ORPHA:158029
Harderoporphyria
Hemolytic anemia, Reticulocytosis, Hepatomegaly, Increased urine harderoporphyrin level, Splenome... OMIM:618892
Granulomatosis With Polyangiitis
Sinusitis, Granulomatosis, Otitis media, Cough, Chronic otitis media, Glomerulopathy, Ureteral st... ORPHA:900
Biemond Syndrome Type 2
Obesity ORPHA:141333
Immunodeficiency 61
Obesity OMIM:300310
Bronchogenic Cyst
Abnormal peritoneum morphology, Pulmonary cyst, Pneumonia, Abnormal pleura morphology, Atelectasi... ORPHA:2357
Down Syndrome
Umbilical hernia, Abnormality of the lymphatic system, Obesity, Acute megakaryocytic leukemia ORPHA:870
Transaldolase Deficiency
Hepatomegaly, Pancytopenia, Splenomegaly, Micronodular cirrhosis, Thrombocytopenia, Asthma, Paten... OMIM:606003
Neurodegeneration And Seizures Due To Copper Transport Defect
Pneumothorax, Pulmonary hypoplasia OMIM:620306
Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome
Truncal obesity ORPHA:2429
Shwachman-Diamond Syndrome
Normocytic anemia, Transient neutropenia, Aplastic anemia, Sinusitis, Leukopenia, Neutropenia, Pa... ORPHA:811
Pediatric-Onset Graves Disease
Episcleritis, Hepatomegaly, Autoimmunity, Keratitis, Splenomegaly, Jaundice, Anti-thyroid peroxid... ORPHA:525731
Ciliary Dyskinesia, Primary, 22
Recurrent respiratory infections, Neonatal respiratory distress, Bronchiectasis, Decreased nasal ... OMIM:615444
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia
Recurrent respiratory infections, Splenomegaly, Leukocytosis, Intraalveolar phospholipid accumula... OMIM:618042
Dehydrated Hereditary Stomatocytosis 2
Hepatomegaly, Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Jaundice, Increase... OMIM:616689
Achondrogenesis, Type Ia
Stillbirth, Disproportionate short-trunk short stature, Pulmonary hypoplasia OMIM:200600
Intellectual Disability-Obesity-Brain Malformations-Facial Dysmorphism Syndrome
Obesity ORPHA:352530
Chronic Granulomatous Disease
Hepatomegaly, Recurrent respiratory infections, Liver abscess, Sinusitis, Eczema, Abnormality of ... ORPHA:379
Fish-Eye Disease
Splenomegaly, Hepatomegaly, Lymphadenopathy ORPHA:79292
Bile Acid Synthesis Defect, Congenital, 2
Hepatomegaly, Splenomegaly, Jaundice, Intrahepatic cholestasis, Failure to thrive OMIM:235555
Cryoglobulinemic Vasculitis
Hepatomegaly, Renal insufficiency, Viral hepatitis, Proteinuria, Glomerulopathy, Mediastinal lymp... ORPHA:91138
Chiari Malformation Type Ii
Cervical myelopathy, Myelomeningocele, Hydrocephalus, Spina bifida OMIM:207950
Cortisone Reductase Deficiency 1
Obesity OMIM:604931
Pyruvate Kinase Deficiency Of Red Cells
Reticulocytosis, Decreased hemoglobin concentration, Hepatomegaly, Reduced red cell pyruvate kina... OMIM:266200
Ciliary Dyskinesia, Primary, 19
Recurrent respiratory infections, Bronchiectasis, Immotile cilia, Rhinitis, Respiratory insuffici... OMIM:614935
Fryns Microphthalmia Syndrome
Neural tube defect OMIM:600776
Idiopathic Aplastic Anemia
Pancytopenia, Epistaxis, Thrombocytopenia, Autoimmune antibody positivity, Reticulocytopenia, Bon... ORPHA:88
Gaucher Disease, Type I
Hepatomegaly, Pancytopenia, Epistaxis, Hypersplenism, Thrombocytopenia, Splenomegaly, Dyspnea, Ab... OMIM:230800
Cholestasis, Progressive Familial Intrahepatic, 1
Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Splenomegaly, Jaundice, Cirrhosis,... OMIM:211600
Type 1 Diabetes Mellitus
Autoimmunity, Polyuria OMIM:222100
Retinal Dystrophy And Obesity
Obesity OMIM:616188
Immunodeficiency 82 With Systemic Inflammation
Decreased proportion of naive T cells, Bronchitis, T lymphocytopenia, Colitis, Pustular rash, B-c... OMIM:619381
Immunodeficiency 77
Recurrent tonsillitis, Bronchiectasis, Chronic pulmonary obstruction, Cutaneous abscess OMIM:619223
Retinoblastoma
Lymphoma, Retinoblastoma, Leukemia, Ewing sarcoma, Pinealoma, Osteosarcoma OMIM:180200
Coenzyme Q10 Deficiency, Primary, 2
Overweight, Obesity OMIM:614651
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects
Short stature, Mild intrauterine growth retardation, Stillbirth, Pulmonary hypoplasia, Umbilical ... OMIM:308050
Mosaic Trisomy 1
Pulmonary artery atresia, Hepatic agenesis, Pulmonary hypoplasia ORPHA:1692
Anemia, Hypochromic Microcytic, With Iron Overload 2
Hepatomegaly, Splenomegaly, Decreased mean corpuscular volume, Poikilocytosis, Elevated hepatic i... OMIM:615234
Cholestasis, Progressive Familial Intrahepatic, 3
Hepatomegaly, Splenomegaly, Jaundice, Intrahepatic cholestasis, Portal inflammation, Portal fibro... OMIM:602347
Clark-Baraitser Syndrome
Obesity OMIM:617752
Leptin Deficiency Or Dysfunction
Obesity OMIM:614962
Boomerang Dysplasia
Aplasia/Hypoplasia of the lungs, Severe short-limb dwarfism ORPHA:1263
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Obesity ORPHA:329249
Bardet-Biedl Syndrome 21
Overweight, Obesity OMIM:617406
Listeriosis
Respiratory distress, Liver abscess, Abnormal cellular immune system morphology, Granulomatosis, ... ORPHA:533
Farber Lipogranulomatosis
Splenomegaly, Hepatomegaly, Failure to thrive, Lipogranulomatosis OMIM:228000
Meningioma
Enlarged pituitary gland, Reduced circulating prolactin concentration, Neoplasm of the anterior p... ORPHA:2495
Baralle-Macken Syndrome
Obesity OMIM:619255
X-Linked Intellectual Disability-Cubitus Valgus-Dysmorphism Syndrome
Truncal obesity ORPHA:85280
Oligoarticular Juvenile Idiopathic Arthritis
Autoimmunity, Antinuclear antibody positivity, Knee osteoarthritis, Oligoarthritis, Uveitis, Rheu... ORPHA:85410
Milroy Disease
Angiosarcoma, Neoplasm of the skin, Cellulitis ORPHA:79452
Ornithine Transcarbamylase Deficiency
Splenomegaly ORPHA:664
Familial Hemophagocytic Lymphohistiocytosis
Elevated hepatic transaminase, Hepatomegaly, Maculopapular exanthema, Skin rash, Splenomegaly, Th... ORPHA:540
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome
Umbilical hernia, Obesity ORPHA:171839
Mendelian Susceptibility To Mycobacterial Diseases Due To Complete Il12Rb1 Deficiency
Lymphadenitis, Salmonella osteomyelitis, Pneumonia ORPHA:319552
Congenital Pulmonary Lymphangiectasia
Respiratory distress, Hepatomegaly, Splenomegaly, Chronic pulmonary obstruction, Cough, Pulmonary... ORPHA:2414
Cholesteryl Ester Storage Disease
Hepatomegaly, Failure to thrive, Bone-marrow foam cells, Portal hypertension, Hypersplenism, Thro... OMIM:278000
Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, And Migraine Headache Syndrome
Splenomegaly, Pancytopenia OMIM:614979
Desmoid Tumor
Fibroma, Neoplasm of the skin, Desmoid tumors ORPHA:873
Oligomeganephronia
Branchial cyst, Pulmonary venous occlusion, Pulmonary hypoplasia ORPHA:2260
Senior-Loken Syndrome 9
Hepatic fibrosis, Obesity, Cholestasis OMIM:616629
Congenital Tracheomalacia
Apnea, Cardiomegaly, Tracheobronchomalacia, Cough, Emphysema, Neonatal respiratory distress, Inte... ORPHA:95430
Caudal Regression Syndrome
Pulmonary hypoplasia ORPHA:3027
Caudal Duplication
Myelomeningocele, Spina bifida ORPHA:1756
Immunodeficiency 58
Recurrent cutaneous abscess formation, Recurrent respiratory infections, Dysuria, Eczema, Allergi... OMIM:618131
Wildervanck Syndrome
Meningocele ORPHA:3456
Anemia, Congenital Dyserythropoietic, Type Iv
Decreased hemoglobin concentration, Hemolytic anemia, Circulating nucleated red blood cells, Hypo... OMIM:613673
Pancreatic Cancer, Susceptibility To, 2
Neoplasm of the pancreas OMIM:613347
Sickle Cell Disease
Hemolytic anemia, Renal insufficiency, Hepatomegaly, Cardiomegaly, Splenomegaly, Jaundice, Leukoc... OMIM:603903
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome
Liver kidney microsome type 1 antibody positivity, Antinuclear antibody positivity, Anti-liver cy... ORPHA:562639
Griscelli Syndrome Type 2
Hepatomegaly, Pancytopenia, Splenomegaly, Jaundice, Lymphadenopathy, Hemophagocytosis, Neutropenia ORPHA:79477
Livedoid Vasculopathy
Pancytopenia, Superficial dermal perivascular inflammatory infiltrate, Recurrent skin infections,... ORPHA:542643
Kaposiform Lymphangiomatosis
Epistaxis, Pancreatic cysts, Splenomegaly, Thrombocytopenia, Abnormality of the lymphatic system,... ORPHA:464329
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Encephalocele, Stillbirth, Rhizomelia, Pulmonary hypoplasia OMIM:616300
Genitopatellar Syndrome
Short stature, Pulmonary hypoplasia ORPHA:85201
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome
Death in infancy, Spina bifida, Abnormal lung lobation, Anomalous pulmonary venous return, Aplasi... ORPHA:1120
Meconium Aspiration Syndrome
Respiratory distress, Neonatal asphyxia, Wheezing, Atelectasis, Pneumothorax, Hypoxemia, Aspirati... ORPHA:70588
Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome
Truncal obesity, Camptodactyly of finger ORPHA:2928
Schaaf-Yang Syndrome
Failure to thrive in infancy, Flexion contracture, Obesity, Camptodactyly, Arthrogryposis multipl... OMIM:615547
Polycythemia Vera
Splenomegaly, Leukocytosis, Increased hemoglobin, Increased red blood cell mass, Increased hemato... OMIM:263300
Mosaic Trisomy 16
Large placenta, Abnormal lung morphology, Pulmonary hypoplasia, Intrauterine growth retardation ORPHA:1708
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Hepatomegaly, Reticulocytosis, Splenomegaly, Jaundice, Increased mean corpuscular hemoglobin conc... OMIM:194380
Severe Generalized Junctional Epidermolysis Bullosa
Urethral stricture, Respiratory distress, Renal cyst, Squamous cell carcinoma, Gastrointestinal i... ORPHA:79404
Raine Syndrome
Neonatal death, Death in infancy, Short stature, Pulmonary hypoplasia OMIM:259775
Osteopetrosis, Autosomal Dominant 3
Splenomegaly, Hepatomegaly, Anemia OMIM:618107
Wilson-Turner Syndrome
Truncal obesity ORPHA:3459
Bardet-Biedl Syndrome 2
Obesity OMIM:615981
Cushing Syndrome Due To Ectopic Acth Secretion
Increased urinary cortisol level, Pancreatic adenocarcinoma, Acne, Pancreatoblastoma, Pituitary c... ORPHA:99889
Peripheral Neuropathy, Autosomal Recessive, With Or Without Impaired Intellectual Development
Obesity OMIM:618124
Metatropic Dysplasia
Aplasia/Hypoplasia of the lungs, Severe short stature ORPHA:2635
Joubert Syndrome 21
Encephalocele, Occipital encephalocele, Pulmonary hypoplasia, Splenomegaly OMIM:615636
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency
Impaired neutrophil bactericidal activity, Pigment gallstones, Spontaneous hemolytic crises, Sple... OMIM:613470
Thrombocytopenia, Anemia, And Myelofibrosis
Anemia, Splenomegaly, Anisopoikilocytosis, Thrombocytopenia OMIM:617441
Hypogonadism-Mitral Valve Prolapse-Intellectual Disability Syndrome
Obesity ORPHA:2233
Vacterl With Hydrocephalus
Intrauterine growth retardation, Pulmonary hypoplasia, Spina bifida ORPHA:3412
Glycogen Storage Disease Ixa1
Splenomegaly, Hepatomegaly OMIM:306000
Immunodeficiency 43
Recurrent respiratory infections, Lung abscess, Bronchiectasis, B lymphocytopenia, Reduced natura... OMIM:241600
Pseudopseudohypoparathyroidism
Enamel hypoplasia, Obesity OMIM:612463
Bile Acid Synthesis Defect, Congenital, 1
Hepatomegaly, Giant cell hepatitis, Splenomegaly, Jaundice, Intrahepatic cholestasis, Acholic sto... OMIM:607765
Immunodeficiency With Hyper-Igm, Type 1
Hepatomegaly, Hemolytic anemia, Chronic oral candidiasis, Absence of lymph node germinal center, ... OMIM:308230
Beckwith-Wiedemann Syndrome
Congenital diaphragmatic hernia, Cardiomegaly, Large for gestational age, Leiomyosarcoma, Neoplas... ORPHA:116
De Sanctis-Cacchione Syndrome
Bilateral cryptorchidism, Melanoma, Defective DNA repair after ultraviolet radiation damage OMIM:278800
Nthl1-Related Attenuated Familial Adenomatous Polyposis
Endometrial carcinoma, Pancreatic adenocarcinoma, Seborrheic keratosis, Breast carcinoma, Squamou... ORPHA:454840
Basal Cell Nevus Syndrome 2
Angiofibromas, Neurofibroma, Medulloblastoma, Basal cell carcinoma, Meningioma OMIM:620343
Congenital Myopathy 22B, Severe Fetal
Hepatomegaly, Pleural effusion, Pulmonary hypoplasia OMIM:620369
Prader-Willi Syndrome Due To Imprinting Mutation
Obesity ORPHA:177910
Neu-Laxova Syndrome
Intrauterine growth retardation, Pulmonary hypoplasia, Spina bifida ORPHA:2671
Hydrocephalus-Obesity-Hypogonadism Syndrome
Obesity ORPHA:2183
Autoimmune Hypoparathyroidism
Calcium nephrolithiasis, Autoimmunity, Dyspnea, Autoimmune antibody positivity, Chronic mucocutan... ORPHA:36913
Anemia, Congenital Dyserythropoietic, Type Ia
Hemolytic anemia, Hepatomegaly, Reticulocytosis, Small for gestational age, Anisocytosis, Anemia ... OMIM:224120
Intellectual Developmental Disorder, Autosomal Dominant 39
Obesity OMIM:616521
Bardet-Biedl Syndrome 8
Obesity OMIM:615985
15Q24 Microdeletion Syndrome
Small for gestational age, Congenital diaphragmatic hernia, Obesity, Hernia, Failure to thrive ORPHA:94065
Thoracoabdominal Syndrome
Anencephaly, Pulmonary hypoplasia OMIM:313850
Nijmegen Breakage Syndrome
Autoimmune hemolytic anemia, Sinusitis, Glioma, Recurrent bronchitis, Rhabdomyosarcoma, Recurrent... OMIM:251260
Joubert Syndrome 37
Hepatomegaly, Obesity OMIM:619185
Intellectual Developmental Disorder, X-Linked, Syndromic 11
Obesity OMIM:300238
Granulomatous Disease, Chronic, Autosomal Recessive, 1
Hepatomegaly, Recurrent bacterial skin infections, Liver abscess, Osteomyelitis, Discoid lupus ra... OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2
Hepatomegaly, Recurrent bacterial skin infections, Liver abscess, Osteomyelitis, Discoid lupus ra... OMIM:233710
Pemphigus Vulgaris
Recurrent cutaneous abscess formation, Autoimmunity ORPHA:704
Intellectual Disability-Obesity-Prognathism-Eye And Skin Anomalies Syndrome
Obesity ORPHA:397973
Dehydrated Hereditary Stomatocytosis
Hemolytic anemia, Reticulocytosis, Macrocytic anemia, Cholelithiasis, Anemia of inadequate produc... ORPHA:3202
Muscle-Eye-Brain Disease
Hydrocephalus, Meningocele, Holoprosencephaly ORPHA:588
Zygomycosis
Fasciitis, Sinusitis, Acute infectious pneumonia, Colitis, Cough, Neutropenia, Infectious encepha... ORPHA:73263
Humero-Radial Synostosis
Meningocele ORPHA:3265
Overhydrated Hereditary Stomatocytosis
Hemolytic anemia, Reticulocytosis, Decreased mean corpuscular hemoglobin concentration, Anisocyto... ORPHA:3203
Intellectual Developmental Disorder With Dysmorphic Facies And Behavioral Abnormalities
Obesity, Tall stature OMIM:618089
Cartilage-Hair Hypoplasia
Hepatomegaly, Abnormality of chromosome stability, Abnormality of the pancreas, Respiratory insuf... ORPHA:175
Meckel Syndrome, Type 1
Accessory spleen, Occipital encephalocele, Malformation of the hepatic ductal plate, Asplenia, La... OMIM:249000
Spastic Paraplegia 11, Autosomal Recessive
Obesity OMIM:604360
Carpenter Syndrome 1
Omphalocele, Obesity, Polysplenia, Camptodactyly, Umbilical hernia, Joint contracture of the hand OMIM:201000
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Hepatomegaly, Severe B lymphocytopenia, Biliary hyperplasia, Postnatal growth retardation, B lymp... ORPHA:83617
Spherocytosis, Type 4
Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis OMIM:612653
Obesity Due To Sim1 Deficiency
Obesity ORPHA:369873
Autosomal Recessive Amelia
Aplasia/Hypoplasia of the lungs ORPHA:1027
Hyper-Igd Syndrome
Neutrophilia, Skin rash, Lymphadenitis, Splenomegaly, Leukocytosis, Lymphadenopathy, Hepatospleno... OMIM:260920
Erythrocytosis, Familial, 1
Increased red blood cell mass, Splenomegaly, Increased hematocrit, Increased hemoglobin OMIM:133100
Polycythemia Vera
Hepatomegaly, Portal hypertension, Myelodysplasia, Portal vein thrombosis, Splenomegaly, Acute le... ORPHA:729
Thoraco-Abdominal Enteric Duplication
Meningocele ORPHA:1759
Peripartum Cardiomyopathy
Orthopnea, Autoimmunity, Crackles, Dyspnea, Asthma, Myocarditis, Respiratory failure, Paroxysmal ... ORPHA:563
Budd-Chiari Syndrome
Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Peritonitis, Weight loss, Cholecystiti... ORPHA:131
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis
Respiratory distress, Hepatomegaly, Neutrophilia, Osteomyelitis, Abscess, Skin rash, Pustule, Spl... OMIM:612852
Aicardi-Goutieres Syndrome 7
Hemolytic anemia, Hepatomegaly, Generalized lymphadenopathy, Pancytopenia, Atrophic gastritis, Ch... OMIM:615846
Granulomatous Disease, Chronic, X-Linked
Hepatomegaly, Recurrent bacterial skin infections, Liver abscess, Osteomyelitis, Discoid lupus ra... OMIM:306400
Pparg-Related Familial Partial Lipodystrophy
Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Lipoatrophy, Splenomegaly, Cirrhosis,... ORPHA:79083
Cryohydrocytosis
Splenomegaly, Hemolytic anemia, Stomatocytosis, Reticulocytosis OMIM:185020
Spherocytosis, Type 1
Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Cholelithiasis OMIM:182900
14Q11.2 Microduplication Syndrome
Obesity ORPHA:261229
Holzgreve Syndrome
Aplasia/Hypoplasia of the lungs, Intrauterine growth retardation, Abnormal mesentery morphology ORPHA:2167
Diffuse Cutaneous Systemic Sclerosis
Renal insufficiency, Autoimmunity, Dyspnea, Oliguria, Arthritis, Pulmonary fibrosis, Pulmonary ar... ORPHA:220393
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome
Psoriasiform dermatitis, Severe B lymphocytopenia, Autoimmune thrombocytopenia, Recurrent pharyng... ORPHA:293978
Microtriplication 11Q24.1
Obesity ORPHA:289522
Congenital Multicore Myopathy With External Ophthalmoplegia
Recurrent respiratory infections, Small scrotum, Pneumonia, Cryptorchidism, Abnormal respiratory ... ORPHA:98905
Sclerosing Cholangitis, Neonatal
Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Biliary cirrhosis, Cholestasis, Sclero... OMIM:617394
Granulomatous Disease, Chronic, Autosomal Recessive, 4
Hepatomegaly, Recurrent bacterial skin infections, Liver abscess, Osteomyelitis, Discoid lupus ra... OMIM:233690
Familial Mediterranean Fever
Hepatomegaly, Pericarditis, Neutrophilia, Orchitis, Splenomegaly, Leukocytosis, Peritonitis, Stag... OMIM:249100
Temple Syndrome Due To Paternal 14Q32.2 Microdeletion
Obesity ORPHA:254525
Temple Syndrome
Small for gestational age, Obesity ORPHA:254516
Stuve-Wiedemann Syndrome 1
Death in infancy, Pulmonary arterial medial hypertrophy, Pulmonary hypoplasia, Short stature OMIM:601559
Oculopharyngodistal Myopathy
Respiratory insufficiency due to muscle weakness, Restrictive ventilatory defect, Recurrent aspir... ORPHA:98897
Panbronchiolitis, Diffuse
Crackles, Rhonchi, Wheezing, Bronchiectasis, Hypoxemia, Cough OMIM:604809
Axial Mesodermal Dysplasia Spectrum
Aplasia/Hypoplasia of the lungs, Abnormality of the spleen, Abnormality of the liver, Short stature ORPHA:1834
Short Fifth Metacarpals-Insulin Resistance Syndrome
Splenomegaly, Spherocytosis ORPHA:66518
Bile Acid Synthesis Defect, Congenital, 3
Hepatomegaly, Failure to thrive, Intrahepatic cholestasis, Splenomegaly, Jaundice, Hepatitis, Ach... OMIM:613812
Osteopetrosis, Autosomal Recessive 4
Reticulocytosis, Hepatomegaly, Splenomegaly, Thrombocytopenia, Anemia OMIM:611490
Truncus Arteriosus
Anomalous origin of one pulmonary artery from ascending aorta, Pulmonary artery stenosis, Abnorma... ORPHA:3384
Iga Pemphigus
Neutrophilic infiltration of the skin, Eosinophilia, Pustule, Autoimmune antibody positivity, Ulc... ORPHA:555905
Nocardiosis
Respiratory distress, Liver abscess, Lymphadenitis, Nonproductive cough, Conjunctivitis, Emphysem... ORPHA:31204
Congenital Myopathy 17
Respiratory tract infection, Pulmonary hypoplasia OMIM:618975
Spherocytosis, Type 2
Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Jaundice, Spherocytosis OMIM:616649
Mucopolysaccharidosis, Type Iiia
Splenomegaly, Hepatomegaly, Inguinal hernia, Umbilical hernia OMIM:252900
Alg9-Cdg
Hepatomegaly, Rhizomelia, Abnormal lung lobation, Periportal fibrosis, Pulmonary hypoplasia, Hepa... ORPHA:79328
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome
Obesity ORPHA:464282
Rhizomelic Limb Shortening With Dysmorphic Features
Obesity OMIM:618821
Acquired Generalized Lipodystrophy
Hepatomegaly, Acute pancreatitis, Astrocytoma, Proteinuria, Autoimmunity, Lymphoma, Polycystic ov... ORPHA:79086
Parathyroid Carcinoma
Pancreatic adenocarcinoma, Renal hamartoma, Testicular neoplasm, Fibroma, Weight loss, Uterine le... ORPHA:143
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Neonatal death, Absent gallbladder, Pulmonary hypoplasia OMIM:617925
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Impaired Intellectual Development Syndrome
Nephroblastoma, Gonadoblastoma, Obesity OMIM:194072
Chops Syndrome
Tracheomalacia, Cryptorchidism, Splenomegaly, Patent ductus arteriosus, Horseshoe kidney, Anomalo... OMIM:616368
Sotos Syndrome
Ureteral duplication, Astrocytoma, Neoplasm, Chronic otitis media, Vesicoureteral reflux, Hypospa... ORPHA:821
Immunodeficiency 56
Recurrent respiratory infections, Cholangitis, Recurrent pneumonia, Bronchiectasis, Cirrhosis, Ch... OMIM:615207
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Obesity ORPHA:411515
Acropectorovertebral Dysplasia
Spina bifida ORPHA:957
Combined Oxidative Phosphorylation Deficiency 54
Obesity OMIM:619737
Wagr Syndrome
Obesity ORPHA:893
Hereditary Bullous Dystrophy, Macular Type
Decreased testicular size, Cryptorchidism, Pneumonia, External genital hypoplasia ORPHA:1867
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5
Restrictive ventilatory defect, Pneumonia, Right ventricular hypertrophy OMIM:253700
Clark-Baraitser syndrome
Obesity, Tall stature OMIM:300602
Gaucher Disease, Type Ii
Hepatomegaly, Apnea, Splenomegaly, Anemia, Stridor, Cough, Bronchiolitis, Recurrent aspiration pn... OMIM:230900
6Q16 Microdeletion Syndrome
Obesity ORPHA:171829
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly
Obesity OMIM:615633
Cowden Syndrome
Endometrial carcinoma, Follicular thyroid carcinoma, Enlarged polycystic ovaries, Cavernous heman... ORPHA:201
Thanatophoric Dysplasia Type 2
Encephalocele, Short stature, Aplasia/Hypoplasia of the lungs ORPHA:93274
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
Lipodystrophy, Achilles tendon contracture, Elbow flexion contracture, Obesity, Decreased cervica... ORPHA:98855
Camptodactyly Syndrome, Guadalajara Type 1
Intrauterine growth retardation, Short stature, Spina bifida ORPHA:1327
Roifman-Chitayat Syndrome
Arthritis, Pneumonia, Ectopic kidney OMIM:613328
Ogden Syndrome
Peripheral pulmonary artery stenosis, Short stature, Postnatal growth retardation, Microvesicular... OMIM:300855
Mucoepithelial Dysplasia, Hereditary
Pneumonia, Eosinophilia, Recurrent pneumonia, Chronic mucocutaneous candidiasis, Keratoconjunctiv... OMIM:158310
Pemphigus Foliaceus
Psoriasiform dermatitis, Autoimmunity, Hematological neoplasm, Pustule, Crusting erythematous der... ORPHA:79481
Kikuchi-Fujimoto Disease
Hepatomegaly, Generalized lymphadenopathy, Skin rash, Antinuclear antibody positivity, Thrombocyt... ORPHA:50918
13Q12.3 Microdeletion Syndrome
Failure to thrive, Obesity, Congenital diaphragmatic hernia, Camptodactyly ORPHA:412035
Atkin-Flaitz Syndrome
Obesity ORPHA:1193
Atelosteogenesis Type Ii
Rhizomelic arm shortening, Rhizomelia, Pulmonary hypoplasia ORPHA:56304
Mitochondrial Dna Depletion Syndrome 12B (Cardiomyopathic Type), Autosomal Recessive
Left ventricular hypertrophy, Achilles tendon contracture, Obesity OMIM:615418
Prolactin Deficiency With Obesity And Enlarged Testes
Obesity OMIM:264120
Multiple Endocrine Neoplasia Type 4
Pituitary corticotropic cell adenoma, Angiofibromas, Pituitary prolactin cell adenoma, Carcinoid ... ORPHA:276152
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation
Obesity ORPHA:254531
Urban-Rogers-Meyer Syndrome
Camptodactyly of finger, Flexion contracture of toe, Obesity ORPHA:3409
Ataxia-Oculomotor Apraxia Type 4
Obesity ORPHA:459033
Fryns Syndrome
Ectopic pancreatic tissue, Stillbirth, Chylothorax, Pulmonary hypoplasia, Polysplenia OMIM:229850
Bardet-Biedl Syndrome 9
Truncal obesity, Obesity OMIM:615986
Elliptocytosis 1
Splenomegaly, Hemolytic anemia, Jaundice, Elliptocytosis OMIM:611804
Neurodevelopmental Disorder With Hypotonia, Impaired Speech, And Behavioral Abnormalities
Obesity OMIM:619854
Diamond-Blackfan Anemia 21
Erythroid hypoplasia, Obesity, Anemia, Thrombocytopenia, Osteosarcoma OMIM:620072
Smith-Lemli-Opitz Syndrome
Hepatomegaly, Death in infancy, Short stature, Splenomegaly, Abnormal lung lobation, Growth delay... OMIM:270400
Short-Rib Thoracic Dysplasia 14 With Polydactyly
Occipital meningocele, Anencephaly, Pulmonary hypoplasia OMIM:616546
Hermansky-Pudlak Syndrome 2
Hepatomegaly, Absent platelet dense granules, Chronic oral candidiasis, Splenomegaly, Recurrent p... OMIM:608233
Progressive Encephalopathy With Leukodystrophy Due To Decr Deficiency
Renal tubular acidosis, Organic aciduria, Pancreatitis, Aspiration pneumonia ORPHA:431361
Myasthenia, Limb-Girdle, Autoimmune
Neoplasm, Hashimoto thyroiditis, Thymoma, Systemic lupus erythematosus OMIM:159400
Lethal Congenital Contracture Syndrome 9
Intrauterine growth retardation, Pulmonary hypoplasia, Short umbilical cord OMIM:616503
Otopalatodigital Syndrome Type 2
Encephalocele, Myelomeningocele, Pulmonary hypoplasia ORPHA:90652
Reynolds Syndrome
Hepatomegaly, Antinuclear antibody positivity, Splenomegaly, Jaundice, Erythema nodosum, Biliary ... OMIM:613471
Tetraamelia Syndrome 1
Asplenia, Peripheral pulmonary vessel aplasia, Pulmonary hypoplasia OMIM:273395
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Pancreatic fibrosis, Hepatic fibrosis, Pulmonary hypoplasia OMIM:263520
X-Linked Intellectual Disability, Hedera Type
Left ventricular hypertrophy, Obesity ORPHA:93952
Gm1 Gangliosidosis
Recurrent respiratory infections, Splenomegaly, Patent ductus arteriosus, Hepatosplenomegaly, Abn... ORPHA:354
Meier-Gorlin Syndrome 7
Growth delay, Short stature, Pulmonary hypoplasia, Meconium peritonitis OMIM:617063
X-Linked Emery-Dreifuss Muscular Dystrophy
Lipodystrophy, Achilles tendon contracture, Elbow flexion contracture, Obesity, Decreased cervica... ORPHA:98863
Bardet-Biedl Syndrome 3
Obesity OMIM:600151
Emery-Dreifuss Muscular Dystrophy
Lipodystrophy, Achilles tendon contracture, Elbow flexion contracture, Obesity, Decreased cervica... ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
Lipodystrophy, Achilles tendon contracture, Elbow flexion contracture, Obesity, Decreased cervica... ORPHA:98853
Proteus-Like Syndrome
Thymus hyperplasia, Splenomegaly, Shagreen patch, Hemangioma, Subcutaneous lipoma, Exostoses ORPHA:2969
Idiopathic Hypereosinophilic Syndrome
Respiratory distress, Generalized lymphadenopathy, Cholangitis, Pulmonary embolism, Colitis, Coug... ORPHA:3260
Glycogen Storage Disease Ixc
Hepatomegaly, Splenomegaly, Bile duct proliferation, Cirrhosis, Increased hepatic glycogen content OMIM:613027
Intellectual Developmental Disorder, X-Linked, Syndromic 13
Flexion contracture, Wrist flexion contracture, Obesity OMIM:300055
Intellectual Disability-Balding-Patella Luxation-Acromicria Syndrome
Reduced subcutaneous adipose tissue, Truncal obesity, Flexion contracture of digit ORPHA:3041
Trichothiodystrophy
Umbilical hernia, Defective DNA repair after ultraviolet radiation damage ORPHA:33364
Retinitis Pigmentosa 51
Obesity OMIM:613464
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease
Dorsocervical fat pad, Pituitary adenoma, Increased body weight, Renal cell carcinoma, Abdominal ... ORPHA:189427
Idiopathic Intracranial Hypertension
Obesity ORPHA:238624
Waldenström Macroglobulinemia
Normocytic anemia, Hepatomegaly, Renal insufficiency, Epistaxis, Abnormality of neutrophils, Sple... ORPHA:33226
Agammaglobulinemia 1, Autosomal Recessive
Recurrent respiratory infections, Recurrent pneumonia, Bronchiectasis, Rectal abscess, B lymphocy... OMIM:601495
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 3
Pneumonia OMIM:608033
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome
Postnatal growth retardation, Atelectasis, Pulmonary hypoplasia, Repeated pneumothoraces ORPHA:536467
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14
Truncal obesity, Small for gestational age, Obesity ORPHA:96184
Fryns Syndrome
Pulmonary hypoplasia ORPHA:2059
Intellectual Developmental Disorder, Autosomal Recessive 13
Truncal obesity OMIM:613192
Joubert Syndrome 8
Hepatomegaly, Obesity, Prolonged neonatal jaundice OMIM:612291
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1
Pulmonary hypoplasia OMIM:614080
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome
Abnormal dental enamel morphology, Obesity ORPHA:2180
Rasmussen Subacute Encephalitis
Antinuclear antibody positivity, Autoimmunity, Anti-dsDNA antibody positivity ORPHA:1929
Multiple Pterygium Syndrome, Escobar Variant
Umbilical hernia, Short stature, Pulmonary hypoplasia OMIM:265000
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2
Peritonitis, Pulmonary hypoplasia OMIM:619351
Laurence-Moon Syndrome
Obesity OMIM:245800
Hyperparathyroidism-Jaw Tumor Syndrome
Pancreatic adenocarcinoma, Renal hamartoma, Testicular neoplasm, Fibroma, Parathyroid adenoma, Ut... ORPHA:99880
Liver Disease, Severe Congenital
Chronic gastritis, Cardiomegaly, Biliary hyperplasia, Leukopenia, Aminoaciduria, Lymphocytosis, E... OMIM:619991
Pulmonary Alveolar Microlithiasis
Calcium nephrolithiasis, Bronchitis, Nonproductive cough, Tachypnea, Gonadal calcification, Oxyge... ORPHA:60025
Renal Agenesis
Pulmonary hypoplasia ORPHA:411709
Igg4-Related Thyroid Disease
Pancreatic fibrosis, Autoimmunity, Retroperitoneal fibrosis, Anti-thyroid peroxidase antibody pos... ORPHA:64744
Juvenile Neuronal Ceroid Lipofuscinosis
Apnea, Episodic tachypnea, Aspiration pneumonia ORPHA:79264
Infection-Related Hemolytic Uremic Syndrome
Hemolytic anemia, Brain abscess, Anuria, Acute colitis, Pneumonia, Respiratory tract infection, P... ORPHA:544482
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Reticulocytosis, Anisocytosis, Splenomegaly, Leukocytosis, Jaundice, Hemoglobinuria, Poikilocytos... OMIM:300908
Sarcoidosis, Susceptibility To, 1
Generalized lymphadenopathy, Uveitis, Inflammation of the large intestine, Cough, Emphysema, Hepa... OMIM:181000
Fetal Akinesia Deformation Sequence 1
Stillbirth, Pulmonary hypoplasia, Short umbilical cord, Small placenta, Intrauterine growth retar... OMIM:208150
Cornelia De Lange Syndrome 5
Truncal obesity OMIM:300882
Glycogen Storage Disease Ib
Hepatomegaly, Proteinuria, Pancreatic fibrosis, Hepatocellular carcinoma, Splenomegaly, Neutropen... OMIM:232220
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency
Endometrial carcinoma, Pneumonia, Male pseudohermaphroditism, Jaundice, Breast carcinoma, Macroor... ORPHA:90790
Chronic Thromboembolic Pulmonary Hypertension
Reduced vital capacity, Antiphospholipid antibody positivity, Osteomyelitis, Autoimmunity, Pulmon... ORPHA:70591
19P13.12 Microdeletion Syndrome
Arthrogryposis multiplex congenita, Hepatic steatosis, Obesity ORPHA:254346
Revesz Syndrome
Abnormality of chromosome stability, Aplastic anemia, Bone marrow hypocellularity OMIM:268130
Xfe Progeroid Syndrome
Defective DNA repair after ultraviolet radiation damage OMIM:610965
Overhydrated Hereditary Stomatocytosis
Hepatomegaly, Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Stomatocytosis, Increase... OMIM:185000
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Elevated hepatic transaminase, Hepatomegaly, Eczema, Lymphadenitis, Splenomegaly, Leukocytosis, C... OMIM:615895
Lynch Syndrome 5
Neoplasm of the pancreas, Endometrial carcinoma, Ovarian neoplasm OMIM:614350
Syndromic Diarrhea
Hepatomegaly, Gastritis, Increased mean platelet volume, Splenomegaly, Patent ductus arteriosus, ... ORPHA:84064
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency
Hepatitis, Cholestasis, Obesity, Acute hepatic steatosis, Cholesterol gallstones, Macrovesicular ... ORPHA:209902
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome
Eunuchoid habitus, Obesity ORPHA:2234
Alström Syndrome
Respiratory distress, Urinary incontinence, Functional abnormality of the bladder, Hypoplasia of ... ORPHA:64
Intrahepatic Cholestasis Of Pregnancy
Neonatal respiratory distress, Skin rash, Autoimmunity, Abnormality of the pancreas, Jaundice, Ch... ORPHA:69665
X-Linked Intellectual Disability, Stevenson Type
Obesity, Tall stature ORPHA:85325
Xp22.13P22.2 Duplication Syndrome
Truncal obesity, Umbilical hernia, Congenital diaphragmatic hernia ORPHA:284180
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Reduced subcutaneous adipose tissue, ... ORPHA:280365
Smith-Lemli-Opitz Syndrome
Rhizomelia, Short stature, Abnormality of the gallbladder, Abnormal lung lobation, Growth delay, ... ORPHA:818
Sepsis In Premature Infants
Hepatomegaly, Abnormal mucociliary clearance, Splenomegaly, Leukocytosis, Thrombocytopenia, Jaund... ORPHA:90051
Short Stature-Brachydactyly-Obesity-Global Developmental Delay Syndrome
Obesity ORPHA:464288
Mody
Elevated hemoglobin A1c, Large for gestational age, Overweight, Hepatocellular adenoma, Obesity, ... ORPHA:552
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism
Hepatomegaly, Portal hypertension, Pancreatic cysts, Splenomegaly, Anti-thyroid peroxidase antibo... OMIM:610199
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Obesity ORPHA:3077
Pituitary Hormone Deficiency, Combined Or Isolated, 7
Truncal obesity, Abdominal obesity OMIM:618160
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta
Recurrent respiratory infections, Aortopulmonary window, Pulmonary hypoplasia, Pulmonary artery a... ORPHA:99050
Diaphyseal Medullary Stenosis With Malignant Fibrous Histiocytoma
Fibrosarcoma, Histiocytoma, Osteosarcoma OMIM:112250
Isolated Klippel-Feil Syndrome
Spina bifida ORPHA:2345
Triosephosphate Isomerase Deficiency
Normocytic anemia, Hemolytic anemia, Macrocytic anemia, Respiratory distress, Respiratory insuffi... OMIM:615512
Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities
Obesity, Tall stature OMIM:618430
Isolated Osteopoikilosis
Discoid lupus rash, Autoimmunity, Abnormality of the kidney ORPHA:166119
Blomstrand Lethal Chondrodysplasia
Neonatal short-limb short stature, Rhizomelia, Pulmonary hypoplasia ORPHA:50945
Neu-Laxova Syndrome 1
Spina bifida, Stillbirth, Pulmonary hypoplasia, Small placenta, Short umbilical cord, Hydranencep... OMIM:256520
Mitochondrial Complex Ii Deficiency, Nuclear Type 3
Hepatomegaly, Ketonuria, Lacticaciduria, Aspiration pneumonia, Left ventricular hypertrophy OMIM:619167
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Hepatomegaly, Miscarriage, Short stature, Postnatal growth retardation, Large placenta, Pulmonary... ORPHA:96334
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair
Obesity, Cholestasis OMIM:609734
Diaphragmatic Hernia 4, With Cardiovascular Defects
Hepatomegaly, Pulmonary artery hypoplasia, Pulmonary hypoplasia, Aortopulmonary window OMIM:620025
Dpagt1-Cdg
Elevated hepatic transaminase, Hepatomegaly, Pulmonary hypoplasia, Anemia ORPHA:86309
Restrictive Dermopathy 1
Hydropic placenta, Stillbirth, Pulmonary hypoplasia, Short umbilical cord, Neonatal death, Intrau... OMIM:275210
Obesity-Hypoventilation Syndrome
Obesity OMIM:257500
2Q37 Microdeletion Syndrome
Umbilical hernia, Nephroblastoma, Obesity, Congenital diaphragmatic hernia ORPHA:1001
Radio-Tartaglia Syndrome
Hemangioma, Obesity OMIM:619312
Intellectual Developmental Disorder, X-Linked 12
Increased body mass index, Small for gestational age, Truncal obesity OMIM:300957
Chromosome Xq27.3-Q28 Duplication Syndrome
Abdominal obesity, Small for gestational age OMIM:300869
Scheie Syndrome
Splenomegaly, Hepatomegaly, Rhinitis, Mucopolysacchariduria ORPHA:93474
Adiposis Dolorosa
Arthritis, Recurrent skin infections, Autoimmunity ORPHA:36397
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Splenomegaly, Micronodular cirr... OMIM:251880
Gaisböck Syndrome
Overweight, Splenomegaly, Increased mean corpuscular hemoglobin concentration, Obesity, Increased... ORPHA:90041
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis
Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Cholestasis, Sclerosing cholangitis, B... OMIM:607626
Triploidy
Intrauterine growth retardation, Hydrocephalus, Meningocele, Holoprosencephaly ORPHA:3376
Esophageal Atresia
Growth delay, Recurrent respiratory infections, Pulmonary hypoplasia, Bronchitis ORPHA:1199
Cardiac-Urogenital Syndrome
Accessory spleen, Partial anomalous pulmonary venous return, Hepatopulmonary fusion, Pulmonary hy... OMIM:618280
Intellectual Developmental Disorder, X-Linked 107
Obesity OMIM:301013
Absence Of The Pulmonary Artery
Recurrent respiratory infections, Recurrent pneumonia, Bronchiectasis, Growth delay, Pulmonary hy... ORPHA:980
Neurodevelopmental Disorder With Speech Impairment And Dysmorphic Facies
Obesity OMIM:619056
Chromosome 2Q37 Deletion Syndrome
Obesity OMIM:600430
Sirenomelia
Spina bifida, Sirenomelia ORPHA:3169
Chediak-Higashi Syndrome
Impaired neutrophil bactericidal activity, Hepatomegaly, Recurrent bacterial skin infections, Spo... OMIM:214500
Ring Chromosome Y Syndrome
Gonadoblastoma, Obesity ORPHA:261529
Pituitary Deficiency Due To Empty Sella Turcica Syndrome
Precocious puberty, Pituitary adenoma, Autoimmunity ORPHA:91354
Hypogonadotropic Hypogonadism 27 Without Anosmia
Obesity OMIM:619755
Vacterl/Vater Association
Occipital encephalocele, Abnormality of the pancreas, Abnormality of the gallbladder, Anencephaly... ORPHA:887
X-Linked Intellectual Disability, Shashi Type
Obesity ORPHA:85286
Acrorenal-Mandibular Syndrome
Intrauterine growth retardation, Pulmonary hypoplasia OMIM:200980
Isolated Posterior Meningocele
Hydrocephalus, Meningocele, Lipomyelomeningocele, Neural tube defect, Occipital meningocele ORPHA:268810
Fontaine Progeroid Syndrome
Death in infancy, Short stature, Pneumothorax, Pulmonary hypoplasia, Neonatal death, Umbilical he... OMIM:612289
Combined Immunodeficiency-Enteropathy Spectrum
Autoimmune hemolytic anemia, Psoriasiform dermatitis, Autoimmunity, Hepatitis, Hypoplasia of the ... ORPHA:436252
Cleft Velum
Recurrent otitis media, Aspiration pneumonia ORPHA:99772
Megalencephaly
Truncal obesity ORPHA:2477
Carney Complex
Pituitary growth hormone cell adenoma, Increased body weight, Thyroid carcinoma, Papillary thyroi... ORPHA:1359
Autosomal Recessive Spondylocostal Dysostosis
Short stature, Meningocele, Umbilical hernia, Spina bifida occulta, Intrauterine growth retardation ORPHA:2311
New-Onset Refractory Status Epilepticus
Infectious encephalitis, Autoimmunity ORPHA:363558
Caroli Disease
Hepatomegaly, Cholangiocarcinoma, Liver abscess, Cholangitis, Portal hypertension, Splenomegaly, ... ORPHA:53035
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum
Respiratory distress, Gastrointestinal inflammation, Conjunctivitis, Cough, Neutropenia, Abnormal... ORPHA:95455
Shox-Related Short Stature
Obesity ORPHA:314795
Familial Mediterranean Fever
Acute hepatic failure, Pericarditis, Proteinuria, Skin rash, Orchitis, Splenomegaly, Peritonitis,... ORPHA:342
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis
Hepatomegaly, Limb joint contracture, Splenomegaly, Micronodular cirrhosis, Flexion contracture, ... OMIM:301072
Distal Deletion 15Q
Short stature, Postnatal growth retardation, Growth delay, Pulmonary hypoplasia, Intrauterine gro... ORPHA:1596
Cystic Fibrosis
Hepatomegaly, Reduced forced expiratory volume in one second, Reduced forced vital capacity, Recu... OMIM:219700
Cerebrocostomandibular Syndrome
Short stature, Spina bifida, Myelomeningocele, Meningocele, Hydranencephaly, Intrauterine growth ... ORPHA:1393
Orofaciodigital Syndrome Type 4
Recurrent respiratory infections, Severe short stature, Growth delay, Bilateral lung agenesis, Pu... ORPHA:2753
Acrodysostosis 2 With Or Without Hormone Resistance
Obesity OMIM:614613
Bardet-Biedl Syndrome
Hepatic fibrosis, Obesity ORPHA:110
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome
Fasciitis, Myositis, Pericarditis, Skin rash, Orchitis, Splenomegaly, Leukocytosis, Peritonitis, ... ORPHA:32960
Chromosome 3Q29 Duplication Syndrome
Obesity OMIM:611936
Sitosterolemia 1
Reticulocytosis, Thrombocytopenia, Splenomegaly, Giant platelets, Arthritis, Stomatocytosis, Epis... OMIM:210250
Sporadic Creutzfeldt-Jakob Disease
Respiratory failure requiring assisted ventilation, Recurrent aspiration pneumonia ORPHA:204
Neurodevelopmental Disorder With Seizures, Spasticity, And Complete Or Partial Agenesis Of The Corpus Callosum
Overgrowth, Obesity OMIM:620250
Hyperparathyroidism, Neonatal Severe
Hepatomegaly, Hyperphosphaturia, Polyuria, Splenomegaly, Dyspnea, Tachypnea, Hypercalciuria, Amin... OMIM:239200
Insulin-Like Growth Factor I, Resistance To
Reduced subcutaneous adipose tissue, Truncal obesity, Lipodystrophy, Decreased body weight OMIM:270450
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Respiratory distress, Hepatomegaly, Inflammatory abnormality of the skin, Elevated hepatic transa... ORPHA:26793
Neurodevelopmental Disorder With Or Without Variable Brain Abnormalities
Hepatomegaly, Obesity OMIM:618443
Hemophagocytic Syndrome Associated With An Infection
Hepatomegaly, Pancytopenia, Splenomegaly, Abnormal T cell subset distribution, Anemia, Hemophagoc... ORPHA:158048
Anophthalmia Plus Syndrome
Spina bifida ORPHA:1104
Neurodevelopmental Disorder With Hypotonia, Dysmorphic Facies, And Skin Abnormalities
Obesity OMIM:620191
Obesity Due To Congenital Leptin Deficiency
Decreased proportion of CD4-positive helper T cells, Obesity ORPHA:66628
Attenuated Familial Adenomatous Polyposis
Astrocytoma, Uterine leiomyoma, Papilloma, Thyroid adenoma, Adenocarcinoma of the colon, Fibroma ORPHA:220460
Psoriasis-Related Juvenile Idiopathic Arthritis
Anterior uveitis, Psoriasiform dermatitis, Skin rash, Autoimmunity, Antinuclear antibody positivi... ORPHA:85436
Sarcoidosis
Increased T cell count, Abnormal lung morphology, Uveitis, Nephrocalcinosis, Tubulointerstitial n... ORPHA:797
Hardikar Syndrome
Intrahepatic bile duct cysts, Cholangitis, Hepatic fibrosis, Vesicoureteral reflux, Bladder exstr... OMIM:301068
Congenital Myopathy 9A
Obesity OMIM:618822
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome
Obesity OMIM:601794
Abdominal Obesity-Metabolic Syndrome 4
Elevated hemoglobin A1c, Obesity OMIM:618620
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome
Obesity ORPHA:363741
Pseudohypoparathyroidism, Type Ib
Obesity OMIM:603233
Biotinidase Deficiency
Hepatomegaly, Apnea, Skin rash, Recurrent skin infections, Seborrheic dermatitis, Splenomegaly, T... OMIM:253260
Hypogonadotropic Hypogonadism 4 With Or Without Anosmia
Obesity OMIM:610628
Obesity Due To Leptin Receptor Gene Deficiency
Decreased proportion of CD4-positive helper T cells, Obesity ORPHA:179494
Chronic Visceral Acid Sphingomyelinase Deficiency
Hepatomegaly, Respiratory failure requiring assisted ventilation, Autoimmune thrombocytopenia, Hy... ORPHA:77293
Isolated Biliary Atresia
Hepatomegaly, Small for gestational age, Atretic gallbladder, Splenomegaly, Jaundice, Cholestasis... ORPHA:30391
Degcags Syndrome
Bilateral renal hypoplasia, Leukopenia, Iron deficiency anemia, Hepatomegaly, Hypospadias, Congen... OMIM:619488
Cornelia De Lange Syndrome 1
Hypospadias, Proteinuria, Pneumonia, Ectopic kidney, Cryptorchidism, Abnormal renal morphology, V... OMIM:122470
Body Mass Index Quantitative Trait Locus 19
Obesity OMIM:617885
Glycogen Storage Disease Xii
Normocytic anemia, Hepatomegaly, Splenomegaly, Jaundice, Hemoglobinuria, Normochromic anemia, Cho... OMIM:611881
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies
Hepatomegaly, Obesity, Hepatosplenomegaly, Umbilical hernia, Cholecystitis, Cholelithiasis OMIM:301066
Lipodystrophy, Congenital Generalized, Type 1
Reduced subcutaneous adipose tissue, Hepatomegaly, Acute pancreatitis, Lipodystrophy, Reduced int... OMIM:608594
Spondylodysplastic Ehlers-Danlos Syndrome
Short stature, Pulmonary hypoplasia ORPHA:536471
Hypomagnesemia, Seizures, And Impaired Intellectual Development 1
Class III obesity OMIM:616418
Oculoauriculovertebral Spectrum With Radial Defects
Aplasia/Hypoplasia of the lungs, Short stature ORPHA:2549
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type
Abdominal obesity OMIM:300354
Leptin Receptor Deficiency
Obesity OMIM:614963
48,Xxxy Syndrome
Inguinal hernia, Abnormal dental enamel morphology, Obesity, Tall stature ORPHA:96263
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies
Pulmonary hypoplasia OMIM:271520
Verloove Vanhorick-Brubakk Syndrome
Aplasia/Hypoplasia of the lungs ORPHA:3429
Splenogonadal Fusion-Limb Defects-Micrognathia Syndrome
Aplasia/Hypoplasia of the lungs, Abnormal lung lobation ORPHA:2063
Generalized Pustular Psoriasis
Overweight, Leukocytosis, Lymphopenia, Obesity ORPHA:247353
Lysinuric Protein Intolerance
Hepatomegaly, Splenomegaly, Anemia, Leukopenia, Truncal obesity, Hemophagocytosis, Failure to thr... OMIM:222700
Pde4D Haploinsufficiency Syndrome
Abnormal dental enamel morphology, Obesity ORPHA:439822
Congenital Analbuminemia
Lipodystrophy, Small for gestational age, Obesity ORPHA:86816
Igg4-Related Submandibular Gland Disease
Renal insufficiency, Eosinophilia, Cholangitis, Autoimmunity, Retroperitoneal fibrosis, Abnormali... ORPHA:449432
Familial Tumoral Calcinosis
Hepatomegaly, Skin rash, Splenomegaly, Nephrocalcinosis, Neoplasm of the skin ORPHA:53715
Wilson Disease
Acute hepatic failure, Osteoarthritis, Aminoaciduria, Hepatic steatosis, Hemolytic anemia, Hepato... OMIM:277900
Schinzel-Giedion Syndrome
Recurrent pneumonia, Annular pancreas, Neural tube defect, Pulmonary hypoplasia, Hepatoblastoma, ... ORPHA:798
Tuberous Sclerosis Complex
Retinal astrocytic hamartoma, Angiofibromas, Retinal hamartoma, Pancreatic endocrine tumor, Pitui... ORPHA:805
Hereditary Elliptocytosis
Hemolytic anemia, Reticulocytosis, Abnormal erythrocyte morphology, Splenomegaly, Jaundice, Stoma... ORPHA:288
Familial Hypocalciuric Hypercalcemia
Hypomagnesiuria, Autoimmunity, Parathormone-independent increased renal tubular calcium reabsorpt... ORPHA:405
Histiocytosis-Lymphadenopathy Plus Syndrome
Episcleritis, Hepatomegaly, Hypergonadotropic hypogonadism, Cardiomegaly, Retroperitoneal fibrosi... OMIM:602782
Smith-Magenis Syndrome
Failure to thrive in infancy, Obesity ORPHA:819
Primary Biliary Cholangitis
Autoimmunity, Portal hypertension, Antinuclear antibody positivity, Jaundice, Hepatitis, Biliary ... ORPHA:186
Distal 16P11.2 Microdeletion Syndrome
Obesity ORPHA:261222
Autoimmune Polyendocrinopathy Type 1
Autoimmunity, Chronic mucocutaneous candidiasis ORPHA:3453
Neutral Lipid Storage Disease With Ichthyosis
Hepatomegaly, Micronodular cirrhosis, Obesity, Abnormal granulocyte morphology, Hepatic steatosis ORPHA:98907
Momo Syndrome
Overgrowth, Obesity, Tall stature, Large for gestational age ORPHA:2563
Cntnap2-Related Developmental And Epileptic Encephalopathy
Hepatomegaly, Obesity ORPHA:163681
Tetrasomy 9P
Absent gallbladder, Jaundice, Biliary atresia, Pulmonary hypoplasia, Umbilical hernia, Intrauteri... ORPHA:3310
Multiple Endocrine Neoplasia Type 1
Angiofibromas, Pituitary corticotropic cell adenoma, Pituitary gonadotropic cell adenoma, Pancrea... ORPHA:652
Congenital-Onset Steinert Myotonic Dystrophy
Obesity, Decreased body weight ORPHA:589821
Von Hippel-Lindau Syndrome
Neoplasm of the pancreas, Pancreatic cysts, Pulmonary capillary hemangiomatosis, Spinal hemangiob... OMIM:193300
Fountain Syndrome
Spina bifida occulta, Short stature, Spina bifida ORPHA:3219
Prune Belly Syndrome
Aplasia/Hypoplasia of the lungs, Recurrent respiratory infections ORPHA:2970
Cohen Syndrome
Small for gestational age, Leukopenia, Childhood-onset truncal obesity, Neutropenia OMIM:216550
Lipodystrophy, Congenital Generalized, Type 2
Reduced subcutaneous adipose tissue, Hepatomegaly, Acute pancreatitis, Lipodystrophy, Elevated he... OMIM:269700
Late-Onset Isolated Acth Deficiency
Normocytic anemia, Macrocytic anemia, Eosinophilia, Autoimmunity, Pituitary adenoma, Hepatitis, H... ORPHA:199299
Igg4-Related Dacryoadenitis And Sialadenitis
Myositis, Autoimmunity, Retroperitoneal fibrosis, Cytoplasmic antineutrophil antibody positivity,... ORPHA:79078
Morgagni-Stewart-Morel Syndrome
Obesity ORPHA:77296
Meacham Syndrome
Abnormality of the spleen, Abnormal lung lobation, Anomalous pulmonary venous return, Aplasia/Hyp... ORPHA:3097
Intellectual Developmental Disorder, X-Linked, Syndromic, Hackmann-Di Donato Type
Disproportionate tall stature, Abdominal obesity, Camptodactyly OMIM:301039
Stiff-Person Syndrome
Autoimmunity, Anemia OMIM:184850
Classic Pantothenate Kinase-Associated Neurodegeneration
Aspiration pneumonia, Cough ORPHA:216866
Pituitary Adenoma 4, Acth-Secreting
Pituitary adenoma, Obesity, Abdominal obesity OMIM:219090
Wagro Syndrome
Nephroblastoma, Multiple exostoses, Obesity OMIM:612469
Mucopolysaccharidosis, Type Vi
Hepatomegaly, Pneumonia, Splenomegaly, Recurrent upper respiratory tract infections, Dermatan sul... OMIM:253200
Bickerstaff Brainstem Encephalitis
Respiratory failure requiring assisted ventilation, Pneumonia, Hypercapnia, Respiratory tract inf... ORPHA:79138
Orofaciodigital Syndrome Ix
Hamartoma, Recurrent aspiration pneumonia OMIM:258865
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies
Neonatal respiratory distress, Psoriasiform dermatitis, Recurrent urinary tract infections, Unila... ORPHA:221139
Kleefstra Syndrome Due To 9Q34 Microdeletion
Inguinal hernia, Failure to thrive, Femoral hernia, Obesity ORPHA:96147
Myasthenia Gravis
Autoimmunity, Thymoma OMIM:254200
Blau Syndrome
Clear cell renal cell carcinoma, Pericarditis, Skin rash, Keratitis, Splenomegaly, Retrobulbar op... ORPHA:90340
Gm1 Gangliosidosis Type 1
Increased urinary galactosylated oligosaccharide, Urinary glycosaminoglycan excretion, Aspiration... ORPHA:79255
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay
Sideroblastic anemia, Splenomegaly, Schistocytosis, Hypochromic microcytic anemia, Nephrocalcinos... OMIM:616084
Laron Syndrome
Truncal obesity ORPHA:633
Osteogenesis Imperfecta
Rhizomelia, Short stature, Growth delay, Pulmonary hypoplasia, Umbilical hernia, Thrombocytopenia... ORPHA:666
Man1B1-Cdg
Truncal obesity ORPHA:397941
Amoebiasis Due To Free-Living Amoebae
Myocardial necrosis, Sinusitis, Pneumonia, Respiratory tract infection, Pustule, Intrarenal absce... ORPHA:68
Parenteral Nutrition-Associated Cholestasis
Hepatomegaly, Small for gestational age, Portal hypertension, Biliary hyperplasia, Splenomegaly, ... ORPHA:567983
Waardenburg Syndrome Type 1
Meningocele, Spina bifida ORPHA:894
Joubert Syndrome 14
Encephalocele, Hydrocephalus, Meningocele, Growth delay OMIM:614424
Hyperlipoproteinemia, Type Id
Hepatomegaly, Splenomegaly, Recurrent pancreatitis, Failure to thrive, Pancreatitis OMIM:615947
Pseudohypoparathyroidism, Type Ic
Enamel hypoplasia, Obesity OMIM:612462
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion
Respiratory distress, Hypoventilation, Apnea, Recurrent pneumonia, Aspiration pneumonia ORPHA:314655
Acth-Independent Macronodular Adrenal Hyperplasia
Truncal obesity, Neoplasm OMIM:219080
Localized Scleroderma
Fasciitis, Autoimmunity, Abnormality of the kidney, Abnormality on pulmonary function testing, Uv... ORPHA:90289
Dysbetalipoproteinemia
Hepatomegaly, Acute pancreatitis, Hepatic steatosis, Obesity ORPHA:412
Desbuquois Dysplasia 1
Obesity OMIM:251450
Gaucher Disease Type 3
Hepatomegaly, Pancytopenia, Recurrent respiratory infections, Proteinuria, Splenomegaly, Thromboc... ORPHA:77261
Proximal 16P11.2 Microdeletion Syndrome
Failure to thrive, Obesity, Congenital diaphragmatic hernia ORPHA:261197
Pigmented Nodular Adrenocortical Disease, Primary, 2
Truncal obesity, Pancreatitis OMIM:610475
Pelvis-Shoulder Dysplasia
Short stature, Spina bifida, Mesomelic/rhizomelic limb shortening, Hydrocephalus, Neonatal short-... ORPHA:2839
Pseudopseudohypoparathyroidism
Obesity ORPHA:79445
Pseudohypoparathyroidism, Type Ia
Enamel hypoplasia, Obesity OMIM:103580
X-Linked Intellectual Disability, Cabezas Type
Camptodactyly of finger, Inguinal hernia, Obesity, Cachexia ORPHA:85293
Luscan-Lumish Syndrome
Overgrowth, Obesity OMIM:616831
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Truncal obesity, Failure to thrive, Small for gestational age ORPHA:73272
Den Hoed-De Boer-Voisin Syndrome
Overweight, Obesity, Decreased body weight, Enamel hypoplasia, Amelogenesis imperfecta OMIM:619229
Ossification Anomalies-Psychomotor Developmental Delay Syndrome
Elevated hepatic transaminase, Hepatomegaly, Hepatic hemangioma, Penile hypospadias, Recurrent as... ORPHA:73230
Behçet Disease
Increased inflammatory response, Renal insufficiency, Myositis, Acne, Pericarditis, Glomerulopath... ORPHA:117
Aicardi-Goutières Syndrome
Enchondroma, Elevated hepatic transaminase, Myositis, Autoimmunity, Chilblains, Cardiomegaly, Neo... ORPHA:51
Perrault Syndrome 4
Disproportionate tall stature, Obesity OMIM:615300
Sacral Defect With Anterior Meningocele
Myeloschisis, Myelomeningocele, Meningocele, Hydrocephalus, Dermal sinus tract OMIM:600145
White-Sutton Syndrome
Failure to thrive, Obesity, Congenital diaphragmatic hernia OMIM:616364
Fraser Syndrome
Encephalocele, Death in infancy, Myelomeningocele, Abnormal lung lobation, Pulmonary hypoplasia, ... ORPHA:2052
Mucopolysaccharidosis Type 3
Hepatomegaly, Recurrent sinopulmonary infections, Adenoiditis, Heparan sulfate excretion in urine... ORPHA:581
Corpus Callosum, Agenesis Of, With Impaired Intellectual Development, Ocular Coloboma, And Micrognathia
Bilateral cryptorchidism, Patent ductus arteriosus, Recurrent pneumonia, Recurrent aspiration pne... OMIM:300472
Congenital Erythropoietic Porphyria
Hemolytic anemia, Reticulocytosis, Recurrent bacterial skin infections, Anisocytosis, Splenomegal... ORPHA:79277
Fraser Syndrome 1
Encephalocele, Myelomeningocele, Abnormal thymus morphology, Pulmonary hypoplasia OMIM:219000
Juvenile Dermatomyositis
Myositis, Pericarditis, Skin rash, Autoimmunity, Dyspnea, Restrictive ventilatory defect, Arthrit... ORPHA:93672
Hennekam Syndrome
Benign neoplasm of the central nervous system, Lymphopenia, Recurrent respiratory infections, Ect... ORPHA:2136
Familial Glucocorticoid Deficiency
Recurrent urinary tract infections, Autoimmunity, Renal salt wasting, Precocious puberty, Cryptor... ORPHA:361
Tyrosinemia, Type I
Acute hepatic failure, Hepatomegaly, Renal insufficiency, Elevated hepatic transaminase, Splenome... OMIM:276700
Bardet-Biedl Syndrome 1
Biliary tract abnormality, Obesity, Truncal obesity, Abdominal obesity, Hepatic fibrosis, Left ve... OMIM:209900
Restrictive Dermopathy
Large placenta, Pulmonary hypoplasia, Short umbilical cord, Small placenta, Intrauterine growth r... ORPHA:1662
Iniencephaly
Encephalocele, Rhizomelia, Spina bifida, Myelomeningocele, Hydrocephalus, Anencephaly, Spinal dys... ORPHA:63259
Apolipoprotein C-Ii Deficiency
Splenomegaly, Hepatomegaly, Pancreatitis OMIM:207750
Bardet-Biedl Syndrome 6
Obesity OMIM:605231
Metaphyseal Chondrodysplasia, Schmid Type
Obesity ORPHA:174
Mckusick-Kaufman Syndrome
Pulmonary hypoplasia OMIM:236700
Coffin-Siris Syndrome
Hypospadias, Cryptorchidism, Patent ductus arteriosus, Recurrent upper respiratory tract infectio... ORPHA:1465
8P23.1 Microdeletion Syndrome
Obesity, Congenital diaphragmatic hernia, Weight loss ORPHA:251071
Hennekam-Beemer Syndrome
Mastocytosis, Pneumonia, Respiratory insufficiency ORPHA:2135
Geleophysic Dysplasia 3
Dyspnea, Hepatomegaly, Respiratory failure, Pneumonia OMIM:617809
Extracranial Carotid Artery Aneurysm
Arteritis, Total anomalous pulmonary venous return, Autoimmunity ORPHA:494424
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome
Meningocele, Short stature ORPHA:2031
Aphalangy-Hemivertebrae-Urogenital-Intestinal Dysgenesis Syndrome
Pulmonary hypoplasia ORPHA:1112
Borjeson-Forssman-Lehmann Syndrome
Camptodactyly of toe, Truncal obesity ORPHA:127
Aicardi Syndrome
Hiatus hernia, Teratoma, Carcinoma, Lipoma, Hepatoblastoma, Metastatic angiosarcoma, Hemangioma OMIM:304050
Cholera
Abnormality of renal excretion, Tachypnea, Aspiration pneumonia, Acute kidney injury, Decreased u... ORPHA:173
Mohr-Tranebjaerg Syndrome
Aspiration pneumonia ORPHA:52368
Infantile Neuroaxonal Dystrophy
Apneic episodes in infancy, Aspiration pneumonia ORPHA:35069
Momo Syndrome
Overgrowth, Obesity OMIM:157980
Monosomy 13Q34
Hepatic steatosis, Obesity ORPHA:96168
Thanatophoric Dysplasia Type 1
Aplasia/Hypoplasia of the lungs, Lethal short-limbed short stature ORPHA:1860
Alpha-Mannosidosis, Infantile Form
Pancytopenia, Recurrent urinary tract infections, Pneumonia, Hepatosplenomegaly, Oligosaccharidur... ORPHA:309282
Neuroleptic Malignant Syndrome
Elevated hepatic transaminase, Proteinuria, Urinary incontinence, Pulmonary embolism, Leukocytosi... ORPHA:94093
Neurocutaneous Melanocytosis
Meningocele ORPHA:2481
Hypotonia, Hypoventilation, Impaired Intellectual Development, Dysautonomia, Epilepsy, And Eye Abnormalities
Hip contracture, Elbow flexion contracture, Obesity OMIM:618493
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Recurrent respiratory infections, Recurrent urinary tract infections, Hypospadias, Pneumonia, Cry... ORPHA:353281
Bardet-Biedl Syndrome 17
Obesity OMIM:615994
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Elevated hepatic transaminase, Recurrent respiratory infections, Renal insufficiency, Hypospadias... ORPHA:397715
Rabin-Pappas Syndrome
Overgrowth, Obesity, Failure to thrive in infancy OMIM:620155
Proprotein Convertase 1/3 Deficiency
Obesity OMIM:600955
Secondary Intestinal Lymphangiectasia
Autoimmunity, B-cell lymphoma, Chylous ascites, Lymphoma, Cirrhosis, Constrictive pericarditis, P... ORPHA:90363
Xylt1-Cdg
Hepatomegaly, Truncal obesity ORPHA:370930
Alstrom Syndrome
Hepatomegaly, Chronic active hepatitis, Hepatic steatosis, Truncal obesity OMIM:203800
Short Stature, Microcephaly, And Endocrine Dysfunction
Truncal obesity, Inguinal hernia, Lymphopenia, Anemia OMIM:616541
Lymphedema-Distichiasis Syndrome
Fibrosarcoma ORPHA:33001
Silver-Russell Syndrome
Failure to thrive in infancy, Obesity, Cachexia ORPHA:813
Angelman Syndrome Due To A Point Mutation
Obesity ORPHA:411511
Marbach-Schaaf Neurodevelopmental Syndrome
Obesity OMIM:619680
Cleft Lip/Palate-Deafness-Sacral Lipoma Syndrome
Meningocele ORPHA:2003
Addison Disease
Normocytic anemia, Primary testicular failure, Autoimmunity, Decreased urinary potassium, Renal s... ORPHA:85138
Ataxia-Oculomotor Apraxia 4
Obesity OMIM:616267
22Q11.2 Deletion Syndrome
Abnormal lung lobation, Hypoplasia of the thymus, Abnormality of the uterus, Vesicoureteral reflu... ORPHA:567
Acth-Independent Macronodular Adrenal Hyperplasia 2
Abdominal obesity, Increased body weight OMIM:615954
Cohen Syndrome
Failure to thrive in infancy, Obesity, Neutropenia ORPHA:193
Multiple Myeloma
Splenomegaly, Lymphadenopathy, Abnormality of the bladder, Nephrotic syndrome, Nephropathy, Pleur... ORPHA:29073
Neu-Laxova Syndrome 2
Intrauterine growth retardation, Spina bifida OMIM:616038
Bdv Syndrome
Obesity OMIM:619326
Ulbright-Hodes Syndrome
Postnatal growth retardation, Pneumothorax, Birth length less than 3rd percentile, Severe intraut... ORPHA:3404
White-Sutton Syndrome
Ventral hernia, Inguinal hernia, Obesity, Congenital diaphragmatic hernia ORPHA:468678
Kleefstra Syndrome
Obesity, Hernia ORPHA:261494
Distal Deletion 12Q
Failure to thrive in infancy, Pituitary adenoma, Biliary atresia, Obesity, Elbow flexion contract... ORPHA:96149
Hyperlipoproteinemia, Type I
Splenomegaly, Jaundice, Pancreatitis, Hepatosplenomegaly OMIM:238600
Acute Adrenal Insufficiency
Normocytic anemia, Renal insufficiency, Autoimmunity, Decreased urinary potassium, Renal salt was... ORPHA:95409
Müllerian Aplasia And Hyperandrogenism
Obesity ORPHA:247768
Tay-Sachs Disease
Precocious puberty, Aspiration pneumonia, Hepatosplenomegaly ORPHA:845
Spondyloepiphyseal Dysplasia Tarda
Increased inflammatory response, Osteoarthritis of the distal interphalangeal joint, Autoimmunity... ORPHA:93284
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3
Obesity OMIM:618395
Cystic Fibrosis
Elevated hepatic transaminase, Recurrent respiratory infections, Absent vas deferens, Sinusitis, ... ORPHA:586
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant
Hemolytic anemia, Increased mean platelet volume, Splenomegaly, Stomatocytosis, Thrombocytopenia OMIM:153670
Sim1-Related Prader-Willi-Like Syndrome
Abdominal obesity, Failure to thrive, Obesity ORPHA:398079
Symptomatic Form Of Fragile X Syndrome In Female Carriers
Recurrent otitis media, Autoimmunity ORPHA:449291
Deafness-Genital Anomalies-Metacarpal And Metatarsal Synostosis Syndrome
Truncal obesity ORPHA:3224
Angelman Syndrome
Obesity OMIM:105830
Encephalitis Lethargica
Autoimmunity, Urinary incontinence, Hyperventilation ORPHA:83600
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion
Obesity ORPHA:98794
Midface Hypoplasia, Obesity, Developmental Delay, And Neonatal Hypotonia
Obesity OMIM:608624
Achondroplasia
Obesity ORPHA:15
Tetraamelia-Multiple Malformations Syndrome
Aplasia/Hypoplasia of the lungs, Abnormal lung lobation ORPHA:3301
Digeorge Syndrome
Abnormal thymus morphology, Hypoplasia of the thymus, Hepatic steatosis, Acne, Atelectasis, Paten... OMIM:188400
Amish Lethal Microcephaly
Spina bifida ORPHA:99742
Kleefstra Syndrome 1
Obesity OMIM:610253
Ehlers-Danlos Syndrome, Periodontal Type, 1
Periodontitis, Autoimmunity OMIM:130080
Proximal Spinal Muscular Atrophy
Hypoventilation, Neonatal respiratory distress, Recurrent infections due to aspiration, Respirato... ORPHA:70
Glossopharyngeal Neuralgia
Schwannoma, Neoplasm, Autoimmunity ORPHA:221098
Spastic Paraplegia, Intellectual Disability, Nystagmus, And Obesity
Obesity OMIM:617296
Opitz Gbbb Syndrome
Bifid scrotum, Enlarged ovaries, Hypospadias, Tracheomalacia, Cryptorchidism, Patent ductus arter... ORPHA:2745
X-Linked Dystonia-Parkinsonism
Aspiration pneumonia ORPHA:53351
1P36 Deletion Syndrome
Camptodactyly of finger, Abnormality of the spleen, Annular pancreas, Obesity, Abnormality of the... ORPHA:1606
Plague
Respiratory distress, Hepatomegaly, Chapped lip, Skin rash, Erythema nodosum, Splenomegaly, Lymph... ORPHA:707
3Q29 Microduplication Syndrome
Camptodactyly of toe, Obesity ORPHA:251038
Acromelic Frontonasal Dysplasia
Encephalocele, Meningocele ORPHA:1827
Aromatase Deficiency
Eunuchoid habitus, Enlarged polycystic ovaries, Obesity, Hepatic steatosis, Tall stature ORPHA:91
Penile Agenesis
Bilateral lung agenesis, Pulmonary hypoplasia ORPHA:49
Septo-Optic Dysplasia Spectrum
Obesity ORPHA:3157
Niemann-Pick Disease Type C
Hepatomegaly, Bone-marrow foam cells, Fetal ascites, Splenomegaly, Jaundice, Abnormal lung morpho... ORPHA:646
Lateral Meningocele Syndrome
Umbilical hernia, Hydrocephalus, Meningocele, Short stature OMIM:130720
Marshall-Smith Syndrome
Apnea, Bilateral cryptorchidism, Cryptorchidism, Patent ductus arteriosus, Recurrent upper respir... OMIM:602535
Lissencephaly Due To Lis1 Mutation
Aspiration pneumonia ORPHA:95232
Prader-Willi Syndrome
Abdominal obesity, Failure to thrive in infancy, Obesity OMIM:176270
Cushing Disease
Dorsocervical fat pad, Pituitary corticotropic cell adenoma, Leukocytosis, Increased body weight,... ORPHA:96253
Angelman Syndrome
Obesity ORPHA:72
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type
Congenital hepatic fibrosis, Disproportionate short-limb short stature, Pulmonary hypoplasia ORPHA:93271
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome
Hydroureter, Patent ductus arteriosus, Hypertrophy of the urinary bladder, Hydrocele testis, Unil... ORPHA:280633
Ellis Van Creveld Syndrome
Acute leukemia, Aplasia/Hypoplasia of the lungs, Intrauterine growth retardation, Emphysema, Neon... ORPHA:289
Trisomy 18
Short stature, Spina bifida, Anencephaly, Growth delay, Holoprosencephaly, Intrauterine growth re... ORPHA:3380
Ciliary Dyskinesia, Primary, 20
Recurrent respiratory infections, Productive cough, Atelectasis, Pulmonary artery stenosis, Recur... OMIM:615067
Bardet-Biedl Syndrome 20
Pancreatitis, Obesity OMIM:619471
Narcolepsy 7
Obesity OMIM:614250
Ulnar-Mammary Syndrome
Camptodactyly of finger, Hernia of the abdominal wall, Obesity ORPHA:3138
Microcephalic Osteodysplastic Primordial Dwarfism Type Ii
Truncal obesity, Anemia ORPHA:2637
Retinal Dystrophy With Or Without Macular Staphyloma
Truncal obesity OMIM:617547
Rubinstein-Taybi Syndrome 1
Accessory spleen, Small for gestational age, Flexion contracture, Papillary cystadenoma of the ep... OMIM:180849
Magel2-Related Prader-Willi-Like Syndrome
Abdominal obesity, Failure to thrive, Flexion contracture, Increased body weight ORPHA:398069
Lateral Meningocele Syndrome
Umbilical hernia, Meningocele ORPHA:2789
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome
Obesity ORPHA:2235
Congenital Total Pulmonary Venous Return Anomaly
Recurrent respiratory infections, Hepatomegaly, Pulmonary artery stenosis, Supracardiac total ano... ORPHA:99125
Autosomal Recessive Spastic Paraplegia Type 11
Overweight, Obesity ORPHA:2822
Focal Dermal Hypoplasia
Acute hepatic failure, Spina bifida, Aplasia/Hypoplasia of the lungs, Abnormality of the pulmonar... ORPHA:2092
Neutral Lipid Storage Myopathy
Hepatomegaly, Chronic pancreatitis, Obesity, Cholecystitis, Hepatic steatosis ORPHA:98908
Atrial Septal Defect, Coronary Sinus Type
Pneumonia, Increased pulmonary vascular resistance, Dyspnea, Anomalous pulmonary venous return, P... ORPHA:99104
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Recurrent respiratory infections, Recurrent urinary tract infections, Hypospadias, Pneumonia, Abn... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Recurrent respiratory infections, Recurrent urinary tract infections, Hypospadias, Pneumonia, Abn... ORPHA:353277
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Overweight, Abnormal abdomen morphology, Jaundice, Neurofibroma, Obesity, Decreased body weight, ... OMIM:619475
Sheehan Syndrome
Normochromic anemia, Obesity ORPHA:91355
Short-Rib Thoracic Dysplasia 15 With Polydactyly
Respiratory distress, Hepatomegaly, Splenomegaly, Patent ductus arteriosus, Hydrometrocolpos, Hor... OMIM:617088
7Q11.23 Microduplication Syndrome
Inguinal hernia, Obesity, Congenital diaphragmatic hernia ORPHA:96121
Combined Oxidative Phosphorylation Deficiency 25
Aspiration pneumonia OMIM:616430
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15
Failure to thrive, Small for gestational age, Obesity ORPHA:98754
Chromosome 17P13.1 Deletion Syndrome
Umbilical hernia, Hydrocephalus, Spina bifida OMIM:613776
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion
Failure to thrive, Small for gestational age, Obesity ORPHA:98793
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2
Failure to thrive, Small for gestational age, Obesity ORPHA:177904
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1
Failure to thrive, Small for gestational age, Obesity ORPHA:177901
Lumbar Syndrome
Myelomeningocele, Spina bifida ORPHA:83628
Combined Oxidative Phosphorylation Deficiency 15
Inguinal hernia, Obesity OMIM:614947
Bardet-Biedl Syndrome 12
Abdominal mass, Obesity OMIM:615989
Atrial Septal Defect, Ostium Secundum Type
Orthopnea, Pneumonia, Breathing dysregulation, Increased pulmonary vascular resistance, Dyspnea, ... ORPHA:99103
Trisomy 20P
Umbilical hernia, Spina bifida ORPHA:261318
Mosaic Trisomy 9
Intrauterine growth retardation, Spina bifida ORPHA:99776
Lathosterolosis
Intrauterine growth retardation, Meningocele ORPHA:46059
Webb-Dattani Syndrome
Obesity OMIM:615926
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome
Hypospadias, Tracheomalacia, Asthma, Patent ductus arteriosus, Horseshoe kidney, Aspiration pneum... ORPHA:444077
Holoprosencephaly
Encephalocele, Abnormality of the spleen, Spinal dysraphism, Aplasia/Hypoplasia of the lungs, Bra... ORPHA:2162
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Hypoventilation, Apnea, Breathing dysregulation, Precocious puberty, Cryptorchidism, Patent ductu... ORPHA:438213
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Obesity ORPHA:369837
Adult-Onset Autosomal Dominant Leukodystrophy
Urinary urgency, Recurrent urinary tract infections, Urinary retention, Aspiration pneumonia ORPHA:99027
Prader-Willi Syndrome Due To Translocation
Obesity ORPHA:177907
Microcephalic Primordial Dwarfism, Dauber Type
Obesity ORPHA:319675
Turner Syndrome Due To Structural X Chromosome Anomalies
Failure to thrive in infancy, Biliary cirrhosis, Obesity, Atypical scarring of skin, Cholestatic ... ORPHA:99413
Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction
Hypoventilation, Apnea, Urinary incontinence, Hypopnea, Restrictive ventilatory defect, Aspiratio... OMIM:619482
Mosaic Monosomy X
Failure to thrive in infancy, Biliary cirrhosis, Obesity, Atypical scarring of skin, Cholestatic ... ORPHA:99228
Monosomy X
Failure to thrive in infancy, Biliary cirrhosis, Obesity, Atypical scarring of skin, Cholestatic ... ORPHA:99226
Turner Syndrome
Failure to thrive in infancy, Biliary cirrhosis, Obesity, Atypical scarring of skin, Cholestatic ... ORPHA:881
Craniopharyngioma
Obesity, Neoplasm of the anterior pituitary ORPHA:54595
Desbuquois Dysplasia 2
Truncal obesity OMIM:615777
Kallmann Syndrome
Obesity ORPHA:478
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To Wac Point Mutation
Truncal obesity, Obesity ORPHA:466950
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies
Inguinal hernia, Obesity OMIM:618653
Phocomelia, Schinzel Type
Intrauterine growth retardation, Disproportionate short stature, Meningocele ORPHA:2879
Helsmoortel-Van Der Aa Syndrome
Truncal obesity, Failure to thrive, Obesity, Enlarged kidney OMIM:615873
Miller-Dieker Lissencephaly Syndrome
Cryptorchidism, Pelvic kidney, Recurrent aspiration pneumonia OMIM:247200
Pseudohypoparathyroidism Type 1C
Enamel hypoplasia, Obesity ORPHA:79444
Limb Body Wall Complex
Encephalocele, Spina bifida, Myelomeningocele, Hydrocephalus, Anencephaly, Short umbilical cord, ... ORPHA:2369
Intellectual Developmental Disorder, Autosomal Dominant 29
Obesity OMIM:616078
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii
Truncal obesity, Enamel hypoplasia OMIM:210720
Wolf-Hirschhorn Syndrome
Recurrent respiratory infections, Abnormality of the gallbladder, Aplasia/Hypoplasia of the lungs... ORPHA:280
Waardenburg Syndrome, Type 1
Myelomeningocele, Spina bifida OMIM:193500
Kabuki Syndrome
Failure to thrive, Obesity, Congenital diaphragmatic hernia ORPHA:2322
Kabuki Syndrome 1
Hemolytic anemia, Crossed fused renal ectopia, Premature thelarche, Autoimmune thrombocytopenia, ... OMIM:147920
Abdominal Obesity-Metabolic Syndrome 3
Truncal obesity, Abdominal obesity OMIM:615812
Phakomatosis Pigmentokeratotica
Spina bifida ORPHA:2874
Pigmented Nodular Adrenocortical Disease, Primary, 1
Truncal obesity OMIM:610489
Metaphyseal Dysostosis, Impaired Intellectual Development, And Conductive Deafness
Obesity OMIM:250420
Congenital Fiber-Type Disproportion Myopathy
Recurrent respiratory infections, Hypercapnia, Respiratory insufficiency due to muscle weakness, ... ORPHA:2020
Genitopatellar Syndrome
Pulmonary hypoplasia OMIM:606170
Cloacal Exstrophy
Myelomeningocele, Spina bifida ORPHA:93929
Curry-Jones Syndrome
Occipital meningocele, Lipomyelomeningocele OMIM:601707
Odontochondrodysplasia 2 With Hearing Loss And Diabetes
Dentinogenesis imperfecta, Obesity OMIM:619269
Pseudohypoparathyroidism Type 1A
Enamel hypoplasia, Obesity ORPHA:79443
Retinitis Pigmentosa 74
Obesity OMIM:616562
Intellectual Disability-Seizures-Macrocephaly-Obesity Syndrome
Failure to thrive, Obesity ORPHA:369950
Arboleda-Tham Syndrome
Respiratory distress, Recurrent respiratory infections, Neonatal respiratory distress, Recurrent ... OMIM:616268
Microcephaly, Epilepsy, And Diabetes Syndrome 1
Jaundice, Obesity OMIM:614231
Angioedema, Hereditary, 1
Autoimmunity OMIM:106100
Doors Syndrome
Increased urine alpha-ketoglutarate concentration, Respiratory distress, Nephrocalcinosis, Abnorm... ORPHA:79500
Adnp Syndrome
Truncal obesity, Inguinal hernia, Umbilical hernia ORPHA:404448
Hallermann-Streiff Syndrome
Proportionate short stature, Spina bifida OMIM:234100
Wac-Related Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome
Obesity ORPHA:466943
Fibular Hemimelia
Spina bifida ORPHA:93323
Prader-Willi Syndrome
Abdominal obesity, Failure to thrive ORPHA:739
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies
Leukocytosis, Flexion contracture, Hepatic steatosis, Abdominal obesity OMIM:619321
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion
Schwannoma, Ossifying fibroma, Proportionate tall stature, Lisch nodules, Neurofibrosarcoma, Hema... ORPHA:363700
Thyrotoxic Periodic Paralysis
Obesity, Weight loss ORPHA:79102
Myhre Syndrome
Small for gestational age, Obesity, Camptodactyly OMIM:139210
Wiedemann-Rautenstrauch Syndrome
Recurrent respiratory infections, Hypospadias, Pneumonia, Cryptorchidism, Long penis, Hypoplasia ... OMIM:264090
45,X/46,Xy Mixed Gonadal Dysgenesis
Cervix cancer, Gonadoblastoma, Obesity ORPHA:1772
Pallister-Killian Syndrome
Rhizomelia, Mesomelic/rhizomelic limb shortening, Growth delay, Stillbirth, Pulmonary hypoplasia,... OMIM:601803
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Ganglioneuroma, Ganglioneuroblastoma, Obesity ORPHA:293987
Basal Cell Nevus Syndrome 1
Hydrocephalus, Spina bifida OMIM:109400
Jacobsen Syndrome
Growth delay, Intrauterine growth retardation, Short stature, Spina bifida ORPHA:2308
Acute Transverse Myelitis
Autoimmunity, Urinary incontinence, Abscess, Systemic lupus erythematosus, Urinary retention, Uri... ORPHA:139417
Neurofibromatosis, Type I
Aqueductal stenosis, Hydrocephalus, Short stature, Spina bifida OMIM:162200
White-Kernohan Syndrome
Obesity OMIM:619426
Orofaciodigital Syndrome Vi
Occipital meningocele, Short stature OMIM:277170
Hereditary Sensory And Autonomic Neuropathy Type 4
Fasciitis, Osteomyelitis, Abscess, Chronic kidney disease, Septic arthritis, Recurrent aspiration... ORPHA:642
Xq21 Microdeletion Syndrome
Obesity ORPHA:1435
Craniofacial Microsomia 1
Occipital encephalocele, Branchial anomaly, Pulmonary hypoplasia OMIM:164210
Holoprosencephaly 7
Alobar holoprosencephaly, Hydrocephalus, Lobar holoprosencephaly, Holoprosencephaly, Occipital me... OMIM:610828
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Short stature, Spina bifida ORPHA:508498
Monosomy 22Q13.3
Umbilical hernia, Obesity ORPHA:48652
Williams Syndrome
Inguinal hernia, Failure to thrive in infancy, Abnormal dental enamel morphology, Cardiomegaly, O... ORPHA:904
Campomelic Dysplasia
Spina bifida, Hydrocephalus, Spinal dysraphism, Disproportionate short-limb short stature, Neonat... OMIM:114290
Split Cord Malformation
Cervical spina bifida, Myelomeningocele, Lipomyelomeningocele, Meningocele, Hydrocephalus ORPHA:573278
6Q Terminal Deletion Syndrome
Failure to thrive, Obesity ORPHA:75857
Carpenter Syndrome 2
Umbilical hernia, Obesity, Camptodactyly, Knee flexion contracture OMIM:614976
Autosomal Dominant Palmoplantar Keratoderma And Congenital Alopecia
Meningocele ORPHA:1010
1P21.3 Microdeletion Syndrome
Obesity ORPHA:293948
17Q24.2 Microdeletion Syndrome
Truncal obesity, Failure to thrive in infancy ORPHA:529962
Vater/Vacterl Association
Occipital encephalocele, Spina bifida, Postnatal growth retardation, Patent urachus, Intrauterine... OMIM:192350
Williams-Beuren Syndrome
Inguinal hernia, Failure to thrive in infancy, Portal hypertension, Flexion contracture, Obesity,... OMIM:194050
Koolen-De Vries Syndrome Due To A Point Mutation
Postnatal growth retardation, Hydrocephalus, Spina bifida ORPHA:363965
17Q21.31 Microdeletion Syndrome
Postnatal growth retardation, Hydrocephalus, Spina bifida ORPHA:363958
Thrombocytopenia-Absent Radius Syndrome
Short stature, Spina bifida OMIM:274000
Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures
Failure to thrive, Obesity OMIM:617157
Microphthalmia, Syndromic 1
Growth delay, Pulmonary hypoplasia OMIM:309800
Witteveen-Kolk Syndrome
Inguinal hernia, Small for gestational age, Congenital diaphragmatic hernia, Obesity, Contracture... OMIM:613406
Ulnar-Mammary Syndrome
Inguinal hernia, Elbow flexion contracture, Obesity OMIM:181450
Semilobar Holoprosencephaly
Central apnea, Chronic lung disease, Abnormal pattern of respiration, Aspiration pneumonia ORPHA:220386
Alobar Holoprosencephaly
Central apnea, Chronic lung disease, Abnormal pattern of respiration, Aspiration pneumonia ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly
Central apnea, Chronic lung disease, Abnormal pattern of respiration, Aspiration pneumonia ORPHA:93926
Lobar Holoprosencephaly
Central apnea, Chronic lung disease, Abnormal pattern of respiration, Aspiration pneumonia ORPHA:93924
Chromosome 1P36 Deletion Syndrome, Distal
Camptodactyly of finger, Obesity, Camptodactyly OMIM:607872
Arima Syndrome
Growth delay, Occipital meningocele OMIM:243910
Tako-Tsubo Cardiomyopathy
Obesity ORPHA:66529
Knobloch Syndrome 1
Occipital meningocele, Occipital encephalocele, Spina bifida occulta OMIM:267750
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb
Truncal obesity, Failure to thrive, Camptodactyly OMIM:612474
Neurodevelopmental Disorder With Dysmorphic Facies And Thin Corpus Callosum
Spina bifida OMIM:619480
Otopalatodigital Syndrome, Type Ii
Short stature, Spina bifida, Postnatal growth retardation, Hydrocephalus, Stillbirth, Umbilical h... OMIM:304120
Pmm2-Cdg
Respiratory distress, Elevated hepatic transaminase, Pericarditis, Hypogonadotropic hypogonadism,... ORPHA:79318
Marfan Syndrome
Meningocele ORPHA:558
Lafora Disease
Hepatic failure, Recurrent aspiration pneumonia ORPHA:501
Cornelia De Lange Syndrome
Truncal obesity, Failure to thrive, Congenital diaphragmatic hernia ORPHA:199
Intellectual Disability-Hypotonic Facies Syndrome, X-Linked, 1
Obesity OMIM:309580
Exstrophy-Epispadias Complex
Hydrocephalus, Spina bifida ORPHA:322
Primrose Syndrome
Hip contracture, Truncal obesity, Flexion contracture, Knee flexion contracture OMIM:259050
Yunis-Varon Syndrome
Hypospadias, Cryptorchidism, Aspiration pneumonia, Pulmonary arterial hypertension, Micropenis OMIM:216340
Ulna And Fibula, Absence Of, With Severe Limb Deficiency
Occipital meningocele, Disproportionate short stature OMIM:276820

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 Fen1

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 Fen1.

No publications found that use IMPC mice or data for Fen1.

Order Mouse and ES Cells

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

MGI Allele Allele Type Produced
Fen1tm87248(L1L2_Pgk_P) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors
Fen1tm1e(EUCOMM)Wtsi Targeted, non-conditional allele ES Cells

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