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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
Systemic lupus erythematosus, Anti-dsDNA antibody positivity, Splenomegaly, Antinuclear antibody ... OMIM:619375
Combined Immunodeficiency Due To Partial Rag1 Deficiency
Autoimmunity, Interstitial pneumonitis, Splenomegaly, Autoimmune hemolytic anemia, Neutropenia in... ORPHA:231154
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Recurrent urinary tract infections, Recurrent otitis media, Decreased CD4:CD8 ratio, Autoimmunity... OMIM:618495
Autoimmune Lymphoproliferative Syndrome, Type Iii
Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of memory ... OMIM:615559
Systemic Lupus Erythematosus 16
Systemic lupus erythematosus, Anti-dsDNA antibody positivity, Antinuclear antibody positivity, Lu... OMIM:614420
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis
Pneumonia, Plasmacytosis, Lymphopenia, Autoimmune hemolytic anemia, Glomerulonephritis OMIM:247800
Complement Component 3 Deficiency, Autosomal Recessive
Recurrent pneumonia, Recurrent tonsillitis, Systemic lupus erythematosus, Renal insufficiency, Me... OMIM:613779
Autoimmune Disease, Multisystem, Infantile-Onset, 2
Minimal change glomerulonephritis, Autoimmunity, Podocyte foot process effacement, Proteinuria, C... OMIM:617006
Autoimmune Disease, Multisystem, Infantile-Onset, 1
Recurrent upper respiratory tract infections, Eczematoid dermatitis, Exocrine pancreatic insuffic... OMIM:615952
C1Q Deficiency 1
Autoimmunity, Membranoproliferative glomerulonephritis, Systemic lupus erythematosus OMIM:613652
Fraxf Syndrome
Folate-dependent fragile site at Xq28 ORPHA:100974
Immunodeficiency, Common Variable, 6
Abnormal T cell count, Mesangial Immune complex deposition, Stage 5 chronic kidney disease, Abnor... OMIM:613496
Pulmonary Hypoplasia, Primary
Neonatal death, Pulmonary hypoplasia OMIM:265430
Mast Cell Sarcoma
Mastocytosis, Splenomegaly, Weight loss, Lymphadenopathy, Hepatomegaly, Sarcoma, Mediastinal lymp... ORPHA:66661
Systemic Lupus Erythematosus
Nephritis, Systemic lupus erythematosus, Hemolytic anemia, Malar rash, Leukopenia, Antinuclear an... OMIM:152700
Adenocarcinoma Of The Esophagus
Barrett esophagus, Obesity, Esophageal carcinoma, Lymphadenopathy ORPHA:99976
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Hepatitis, Systemic lupus erythematosus, Recurrent otitis media, Lymphopenia, Autoimmunity, Respi... ORPHA:444463
N Syndrome
Leukemia, Abnormality of chromosome stability, Cryptorchidism, Neoplasm OMIM:310465
Idiopathic Pulmonary Hemosiderosis
Reticular pattern on pulmonary HRCT, Diffuse alveolar hemorrhage, Antineutrophil antibody positiv... ORPHA:99931
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Inflammatory abnormality of the skin, Psoriasiform dermatitis, Crusting erythematous dermatitis, ... ORPHA:37042
Autoimmune Interstitial Lung, Joint, And Kidney Disease
Abnormal pulmonary interstitial morphology, Pulmonary hemorrhage, Mesangial hypercellularity, Ant... OMIM:616414
Immunodeficiency 51
Pneumonia, Folliculitis, Chronic mucocutaneous candidiasis, Eczematoid dermatitis, Cutaneous absc... OMIM:613953
Primary Membranoproliferative Glomerulonephritis
Chronic kidney disease, Acute kidney injury, Stage 5 chronic kidney disease, Renal insufficiency,... ORPHA:54370
Pulmonary Nodular Lymphoid Hyperplasia
Plasmacytosis, Nodular pattern on pulmonary HRCT, Follicular hyperplasia, Autoimmune antibody pos... ORPHA:60026
Autoinflammation With Pulmonary And Cutaneous Vasculitis
Recurrent upper respiratory tract infections, Interstitial pneumonitis, Splenomegaly, Hepatomegal... OMIM:620296
Lupus Erythematosus Tumidus
Anti-dsDNA antibody positivity, Antinuclear antibody positivity, Deep dermal perivascular inflamm... ORPHA:90283
Mantle Cell Lymphoma
B-cell lymphoma, Weight loss, Splenomegaly, Lymphadenopathy ORPHA:52416
Nephrotic Syndrome, Type 7
Thickened glomerular basement membrane, Acute kidney injury, Stage 5 chronic kidney disease, Podo... OMIM:615008
Neutrophilia, Hereditary
Myelodysplasia, Splenomegaly, Neutrophilia OMIM:162830
C3 Glomerulopathy 3
Thickening of glomerular capillary wall, Stage 5 chronic kidney disease, Renal insufficiency, Mes... OMIM:614809
Drug Reaction With Eosinophilia And Systemic Symptoms
Hepatitis, Renal insufficiency, Skin rash, Interstitial pneumonitis, Infectious encephalitis, Pus... ORPHA:139402
Chronic Beryllium Disease
Reticulonodular pattern on pulmonary HRCT, Lymphocytic interstitial pneumonia, Hypersensitivity p... ORPHA:133
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome
Hepatomegaly, Splenomegaly ORPHA:2274
Fanconi Anemia, Complementation Group G
Leukemia, Abnormality of chromosome stability, Myelodysplasia OMIM:614082
Complement Component C1R/C1S Deficiency
Discoid lupus rash, Nephritis, Autoimmunity, Recurrent bronchitis, Arthritis OMIM:216950
Immunodeficiency 104
Pneumonia, Chronic mucocutaneous candidiasis, Eczematoid dermatitis, Recurrent otitis media, Otit... OMIM:608971
Undifferentiated Pleomorphic Sarcoma
Soft tissue sarcoma, Weight loss, Abnormal peritoneum morphology ORPHA:2023
Tumor Predisposition Syndrome 1
Cutaneous melanoma, Meningioma, Malignant mesothelioma, Lung adenocarcinoma, Uveal melanoma, Rena... OMIM:614327
Immunodeficiency 40
Focal active colitis, Recurrent pneumonia, Eosinophilic granuloma, Recurrent otitis media, Inters... OMIM:616433
Idiopathic Non-Lupus Full-House Nephropathy
Acute kidney injury, Abnormal glomerular mesangium morphology, Renal insufficiency, Skin rash, Gl... ORPHA:567544
Tumor Predisposition Syndrome 4
Glioma, Meningioma, Stomach cancer, Sarcoma, Breast carcinoma OMIM:609265
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Extramedullary hematopoiesis, Leukopenia, Splenomegaly, Hepatomegaly, Thrombocytopenia, Neutropen... OMIM:615285
Complement Component 4A Deficiency
Glomerulonephritis, Systemic lupus erythematosus OMIM:614380
Autoinflammation, Antibody Deficiency, And Immune Dysregulation
Bronchiolitis, Interstitial pneumonitis, Enterocolitis, Recurrent sinopulmonary infections, Decre... OMIM:614878
Activated Pi3K-Delta Syndrome
Pneumonia, Recurrent tonsillitis, Lymphoma, Recurrent otitis media, Autoimmunity, Splenomegaly, C... ORPHA:397596
Nephrotic Syndrome, Type 23
Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Steroid-resistant nephroti... OMIM:619201
Adult-Onset Still Disease
Neutrophilia, Bone marrow hypocellularity, Hepatitis, Interstitial pneumonitis, Skin rash, Spleno... ORPHA:829
Autoimmune Lymphoproliferative Syndrome, Type Iia
Follicular hyperplasia, Antiphospholipid antibody positivity, Hepatomegaly, Nephrotic syndrome, A... OMIM:603909
Nphp3-Related Meckel-Like Syndrome
Abnormal biliary tract morphology, Abnormal liver parenchyma morphology, Abnormality of the pancr... ORPHA:3032
Li-Fraumeni Syndrome
Choriocarcinoma, Acute leukemia, Osteosarcoma, Prostate cancer, Nephroblastoma, Lung adenocarcino... OMIM:151623
Igg4-Related Kidney Disease
Chronic kidney disease, Inflammatory abnormality of the skin, Lymphadenitis, Arteritis, Urethriti... ORPHA:449395
Thymoma
Rheumatoid arthritis, Aplastic anemia, Anti-acetylcholine receptor antibody positivity, Ulcerativ... ORPHA:99867
Interstitial Lung Disease 1
Usual interstitial pneumonia, Intralobular septal thickening, Interlobular septal thickening, Ele... OMIM:619611
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 4B
Neonatal death, Pulmonary hypoplasia OMIM:615228
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Enlarged tonsils, Large for gestational age, Truncal obesity, Increased hepatic glycogen content ORPHA:293964
Melanoma-Pancreatic Cancer Syndrome
Pancreatic adenocarcinoma, Oropharyngeal squamous cell carcinoma, Melanoma, Squamous cell carcino... OMIM:606719
Immunodeficiency 91 And Hyperinflammation
Recurrent pneumonia, Elevated circulating hepatic transaminase concentration, Abnormal pulmonary ... OMIM:619644
Nephrotic Syndrome, Type 10
Minimal change glomerulonephritis, Nephrotic syndrome, Steroid-resistant nephrotic syndrome, Podo... OMIM:615861
C3 Glomerulopathy
Chronic kidney disease, Acute kidney injury, Glomerular extracapillary hypercellularity, Stage 5 ... ORPHA:329918
Mosaic Variegated Aneuploidy Syndrome 4
Abnormality of chromosome stability OMIM:620153
Autoimmune Hepatitis
Antineutrophil antibody positivity, Inflammation of the large intestine, Ascites, Hepatocellular ... ORPHA:2137
Desmoplastic Small Round Cell Tumor
Ascites, Anemia, Cachexia, Weight loss, Lymphadenopathy, Testicular neoplasm, Abnormal peritoneum... ORPHA:83469
Autoimmune Lymphoproliferative Syndrome
Neoplasm of the skin, Systemic lupus erythematosus, Lymphopenia, Hypersplenism, Decreased proport... ORPHA:3261
Renal Hypodysplasia/Aplasia 4
Pulmonary hypoplasia OMIM:619887
Immunodeficiency 75 With Lymphoproliferation
Lymphoma, Hepatosplenomegaly, Follicular hyperplasia, Decreased proportion of class-switched memo... OMIM:619126
Renal Hypodysplasia/Aplasia 2
Pulmonary hypoplasia OMIM:615721
Congenital Membranous Nephropathy Due To Fetomaternal Anti-Neutral Endopeptidase Alloimmunization
Nephrotic syndrome, Renal insufficiency, Glomerulonephritis, Glomerular deposits ORPHA:69063
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Hepatitis, Eczematoid dermatitis, Decreased FOXP3-expressing T cell count, Anemia, Eosinophilia, ... OMIM:304790
Ras-Associated Autoimmune Leukoproliferative Disorder
Lymphoma, Lymphoproliferative disorder, Pancytopenia, Autoimmunity, Splenomegaly, Follicular hype... OMIM:614470
Immunodeficiency, Common Variable, 1
Pneumonia, Recurrent pneumonia, Abnormal T cell count, Recurrent otitis media, Recurrent bronchit... OMIM:607594
Fanconi Renotubular Syndrome 5
Aminoaciduria, Glycosuria, Emphysema, Stage 5 chronic kidney disease, Lung adenocarcinoma, Protei... OMIM:618913
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Lymphoma, Recurrent otitis media, Lymphoproliferative disorder, Decreased CD4:CD8 ratio, Decrease... OMIM:300853
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10
Neural tube defect OMIM:615041
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Recurrent upper respiratory tract infections, Inflammatory abnormality of the skin, Recurrent pne... ORPHA:277
Erythroleukemia, Familial, Susceptibility To
Erythroid hyperplasia, Splenomegaly, Hepatomegaly, Anemia, Acute myeloid leukemia, Thrombocytopen... OMIM:133180
Reticulum Cell Sarcoma
Sarcoma, Neoplasm OMIM:267730
Tn Polyagglutination Syndrome
Abnormal erythrocyte morphology, Autoimmunity OMIM:300622
Autoinflammatory-Pancytopenia Syndrome
Cholestatic liver disease, Hepatic fibrosis, Granuloma, Hemophagocytosis, Hepatosplenomegaly, Pan... OMIM:619858
Ollier Disease
Neoplasm, Lymphangioma, Hemangioma, Anemia, Sarcoma, Multiple enchondromatosis, Visceral angiomat... ORPHA:296
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Fluctuating splenomegaly, Recurrent otitis media, Facial papilloma, Autoimmune hemolytic anemia, ... OMIM:619220
Pneumocystosis
Neoplasm, Interstitial pneumonitis, Pleural effusion, Multiple pulmonary cysts, Acute infectious ... ORPHA:723
Focal Segmental Glomerulosclerosis 10
Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Stage 5 chronic kidney dis... OMIM:256020
Immunodeficiency 64 With Lymphoproliferation
Increased proportion autoreactive unresponsive CD21-/low B cells, Abnormal CD4:CD8 ratio, Anti-th... OMIM:618534
Immunodeficiency 27A
Pneumonia, Hepatosplenomegaly, Thrombocytosis, Leukocytosis, Splenomegaly, Increased inflammatory... OMIM:209950
Masp2 Deficiency
Recurrent pneumonia, Ulcerative colitis, Systemic lupus erythematosus OMIM:613791
Fanconi Anemia, Complementation Group D1
Acute myeloid leukemia, T-cell acute lymphoblastic leukemias, Chromosomal breakage induced by cro... OMIM:605724
Immunodeficiency, Common Variable, 5
Antinuclear antibody positivity, Recurrent respiratory infections, Abnormal T cell count, Abnorma... OMIM:613495
Lethal Congenital Contracture Syndrome 11
Intrauterine growth retardation, Pulmonary hypoplasia OMIM:617194
Combined Oxidative Phosphorylation Deficiency 8
Neonatal death, Death in childhood, Death in infancy, Pulmonary hypoplasia OMIM:614096
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation
Herpes simplex encephalitis, Recurrent otitis media, Hepatosplenomegaly, Lymphadenopathy, Increas... OMIM:618982
Leukocyte Adhesion Deficiency, Type Iii
Extramedullary hematopoiesis, Abnormal lymph node morphology, Hepatosplenomegaly, Leukocytosis, S... OMIM:612840
Isolated Agammaglobulinemia
Pneumonia, Abnormality of neutrophils, Abnormal lymphocyte morphology, Autoimmunity, Otitis media... ORPHA:229717
Immunodeficiency, Common Variable, 2
Recurrent pneumonia, Abnormal T cell count, Lymphoma, Recurrent otitis media, Autoimmunity, Neopl... OMIM:240500
Pgm3-Cdg
Allergic rhinitis, Abnormal CD4:CD8 ratio, Lymphopenia, Esophagitis, Decreased proportion of CD4-... ORPHA:443811
Immunodeficiency 48
Pneumonia, Eczematoid dermatitis, Abnormal B cell count, Splenomegaly, Impaired lymphocyte transf... OMIM:269840
Asbestos Intoxication
Abnormal pulmonary interstitial morphology, Atelectasis, Interlobular septal thickening, Malignan... ORPHA:2302
Mitochondrial Complex I Deficiency, Nuclear Type 35
Neonatal death, Intrauterine growth retardation, Pulmonary hypoplasia OMIM:619003
Combined Immunodeficiency, X-Linked
Pneumonia, Abnormal T cell count, Decreased proportion of CD8-positive T cells, Decreased proport... OMIM:312863
Glycoprotein Storage Disease
Splenomegaly OMIM:232900
Surfactant Metabolism Dysfunction, Pulmonary, 2
Recurrent pneumonia, Intralobular septal thickening, Spontaneous pneumothorax, Intraalveolar phos... OMIM:610913
Dyskeratosis Congenita, Autosomal Dominant 1
Bone marrow hypocellularity, Aplastic anemia, Increased mean corpuscular volume, Squamous cell ca... OMIM:127550
Nephrotic Syndrome, Type 16
Proteinuria, Minimal change glomerulonephritis, Nephrotic syndrome, Hematuria OMIM:617783
Immunodeficiency 52
Recurrent pneumonia, Increased proportion of gamma-delta T cells, Lymphopenia, Abnormal B cell co... OMIM:617514
Nodular Lymphocyte Predominant Hodgkin Lymphoma
Lymphoma, Splenomegaly, B-cell lymphoma, Weight loss, Lymphadenopathy, Hepatomegaly, Breast carci... ORPHA:86893
Immunodeficiency 54
Chromosome breakage, Reduced natural killer cell count, Lymphoproliferative disorder, Splenomegal... OMIM:609981
Lung Cancer
Non-small cell lung carcinoma, Lung adenocarcinoma, Alveolar cell carcinoma OMIM:211980
Spina Bifida-Hypospadias Syndrome
Spinal dysraphism, Spina bifida ORPHA:3176
Rhabdoid Tumor
Neoplasm of the liver, Anemia, Weight loss, Lymphadenopathy, Thrombocytopenia, Renal neoplasm, Sa... ORPHA:69077
Fanconi Anemia, Complementation Group T
Acute myeloid leukemia, Chromosomal breakage induced by crosslinking agents OMIM:616435
Primary Sjögren Syndrome
Arteritis, Lymphopenia, Chronic hepatitis, Decreased proportion of CD4-positive helper T cells, L... ORPHA:289390
Immunodeficiency 16
Pancytopenia, Coombs-positive hemolytic anemia, Splenomegaly, Kaposi's sarcoma OMIM:615593
Thrombocytopenia With Elevated Serum Iga And Renal Disease
Hematuria, Glomerulonephritis, Thrombocytopenia OMIM:314000
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant
Pneumonia, Atopic dermatitis, Recurrent upper respiratory tract infections, Abnormally low T cell... OMIM:618806
C1Q Deficiency 2
Discoid lupus rash, Atelectasis, Recurrent otitis media, Malar rash, Chilblains, Anti-Sm antibody... OMIM:620321
Nephrotic Syndrome, Type 15
Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidney disease, Steroid-resistant... OMIM:617609
Immunodeficiency 105
Reduced natural killer cell count, Absence of lymph node germinal center, Lymphopenia, Hepatosple... OMIM:619924
Ewing Sarcoma
Ewing sarcoma OMIM:612219
Proteasome-Associated Autoinflammatory Syndrome 5
Hepatomegaly, Failure to thrive in infancy, Splenomegaly OMIM:619175
Renal-Hepatic-Pancreatic Dysplasia 2
Malformation of the hepatic ductal plate, Hepatic fibrosis, Abnormal lung lobation, Cholestasis, ... OMIM:615415
Neutropenia, Severe Congenital, 9, Autosomal Dominant
Splenomegaly OMIM:619813
Autoinflammation, Immune Dysregulation, And Eosinophilia
Atopic dermatitis, Hepatosplenomegaly, Hepatic cysts, Colonic eosinophilia, Eosinophilia, Membran... OMIM:618999
Myofibromatosis, Infantile, 1
Myofibromatosis, Fibroma OMIM:228550
Lipodystrophy, Partial, Acquired, Susceptibility To
Hepatic steatosis, Polycystic ovaries, Proteinuria, Hematuria, Membranoproliferative glomerulonep... OMIM:608709
Eosinophilopenia
Allergic rhinitis, Decreased eosinophil count, Autoimmunity OMIM:131430
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant
Splenomegaly, Recurrent sinopulmonary infections, Lymphadenopathy, Increased proportion of transi... OMIM:615513
Immunodeficiency 76
Recurrent pneumonia, Lymphopenia, Splenomegaly, Recurrent bronchiolitis, B-cell lymphoma, Lymphad... OMIM:619164
Pemphigus Vulgaris, Familial
Autoimmunity, Autoimmune antibody positivity OMIM:169610
Intrauterine Growth Retardation With Increased Mitomycin C Sensitivity
Abnormality of chromosome stability OMIM:600546
Bazex Syndrome
Anemia, Liposarcoma, Lung adenocarcinoma, Neoplasm ORPHA:166113
Immunodeficiency With Hyper-Igm, Type 4
Recurrent upper respiratory tract infections, Absence of lymph node germinal center, Osteomyeliti... OMIM:608184
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To
Bone marrow hypocellularity, Eczematoid dermatitis, Lymphoma, Systemic lupus erythematosus, Leuko... OMIM:616871
Alpha-Thalassemia
Cholelithiasis, Extramedullary hematopoiesis, Microcytic anemia, Hemoglobin Barts, Hepatosplenome... ORPHA:846
Acute Radiation Syndrome
Inflammatory abnormality of the skin, Lymphopenia, Interstitial pneumonitis, Thrombocytopenia, Gr... ORPHA:454831
Hypereosinophilic Syndrome, Idiopathic
Hepatomegaly, Eosinophilia, Myeloproliferative disorder, Splenomegaly OMIM:607685
Primary Myelofibrosis
Extramedullary hematopoiesis, Hepatosplenomegaly, Pancytopenia, Leukocytosis, Splenomegaly, Throm... ORPHA:824
Immunoglobulin A Deficiency 2
Abnormal lymphocyte morphology, Autoimmunity, Recurrent sinopulmonary infections OMIM:609529
Autoimmune Disease
Autoimmunity, Autoimmune antibody positivity OMIM:109100
Surfactant Metabolism Dysfunction, Pulmonary, 3
Crazy paving pattern, Reticular pattern on pulmonary HRCT, Usual interstitial pneumonia, Intraalv... OMIM:610921
Felty Syndrome
Synovitis, Neutropenia, Recurrent pharyngitis, Hepatomegaly, Chronic otitis media, Abnormal lymph... ORPHA:47612
Larsen-Like Syndrome, Lethal Type
Neonatal death, Pulmonary hypoplasia OMIM:245650
Transcobalamin Deficiency
Acute kidney injury, Abnormality of chromosome stability, Methylmalonic aciduria, Lymphopenia, Pa... ORPHA:859
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 1, Autosomal Recessive
Lymphocytic interstitial pneumonia OMIM:245590
Hydrops Fetalis, Nonimmune, With Gracile Bones And Dysmorphism
Pulmonary hypoplasia OMIM:613124
Microphthalmia, Syndromic 12
Neonatal death, Pulmonary hypoplasia OMIM:615524
Nijmegen Breakage Syndrome-Like Disorder
Chromosomal breakage induced by ionizing radiation OMIM:613078
Mesomelic Dwarfism-Cleft Palate-Camptodactyly Syndrome
Pulmonary hypoplasia, Abnormal lung lobation ORPHA:2631
Combined Immunodeficiency Due To Zap70 Deficiency
Lymphadenitis, Abnormal lymph node morphology, Decreased proportion of CD8-positive T cells, Hepa... ORPHA:911
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type
Short stature, Splenomegaly, Aplasia/Hypoplasia of the lungs, Hepatomegaly ORPHA:2204
Trimethylaminuria
Recurrent pneumonia, Splenomegaly, Trimethylaminuria, Neutropenia, Anemia OMIM:602079
Immunodeficiency 36 With Lymphoproliferation
Recurrent upper respiratory tract infections, Lymphopenia, Autoimmunity, Splenomegaly, Chronic ly... OMIM:616005
Lymphoid Interstitial Pneumonia
Lymphocytic interstitial pneumonia OMIM:247610
Immunodeficiency 7
Recurrent otitis media, Autoimmunity, Hypereosinophilia, Splenomegaly, Autoimmune hemolytic anemi... OMIM:615387
Immunodeficiency 23
Allergic rhinitis, Chronic mucocutaneous candidiasis, Eczematoid dermatitis, Lymphopenia, Abscess... OMIM:615816
Omenn Syndrome
Pneumonia, Lymphoma, Abnormal lymphocyte morphology, Autoimmunity, Leukocytosis, Splenomegaly, He... ORPHA:39041
Nut Midline Carcinoma
Ewing sarcoma, Neoplasm, Oropharyngeal squamous cell carcinoma, Pancreatoblastoma, Squamous cell ... ORPHA:443167
Maturity-Onset Diabetes Of The Young, Type 11
Obesity, Overweight OMIM:613375
Immunodeficiency 113 With Autoimmunity And Autoinflammation
Minimal change glomerulonephritis, Intraalveolar phospholipid accumulation, Hepatitis, Eczematoid... OMIM:620565
Neural Tube Defects, Folate-Sensitive
Spinal dysraphism OMIM:601634
Fanconi Anemia, Complementation Group S
Chromosome breakage, Ovarian neoplasm, Ovarian carcinoma, Breast carcinoma OMIM:617883
Pauci-Immune Glomerulonephritis
Acute kidney injury, Arteritis, Decreased glomerular filtration rate, Pulmonary hemorrhage, Renal... ORPHA:93126
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Hepatomegaly, Anemia, Splenomegaly, Persistence of hemoglobin F ORPHA:46532
Xeroderma Pigmentosum, Complementation Group G
Defective DNA repair after ultraviolet radiation damage OMIM:278780
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency
Atrophic gastritis, Pneumonia, Inflammation of the large intestine, Recurrent upper respiratory t... ORPHA:436159
Neonatal Alloimmune Neutropenia
Pneumonia, Antineutrophil antibody positivity, Jaundice, Neutropenia in presence of anti-neutropi... ORPHA:464370
Progressive Familial Intrahepatic Cholestasis
Failure to thrive, Cholestasis, Neoplasm, Splenomegaly, Hepatomegaly, Jaundice ORPHA:172
Immunodeficiency 84
B-cell lymphoma, Splenomegaly, B lymphocytopenia OMIM:619437
Scleroderma, Familial Progressive
Chromosome breakage, Abnormality of chromosome stability OMIM:181750
Brucellosis
Arteritis, Sacroiliac arthritis, Hypersplenism, Knee osteoarthritis, Glomerulonephritis, Hepatome... ORPHA:1304
Bronchiolitis Obliterans
Pneumonia, Autoimmunity, Respiratory tract infection, Bronchiolitis obliterans, Bronchiectasis ORPHA:1303
Xeroderma Pigmentosum, Complementation Group F
Neoplasm of the skin, Deficient excision of UV-induced pyrimidine dimers in DNA, Squamous cell ca... OMIM:278760
Genetic Steroid-Resistant Nephrotic Syndrome
Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Chronic kidney disease, St... ORPHA:656
Immunodeficiency 62
Decreased proportion of memory B cells, Recurrent upper respiratory tract infections, Increased p... OMIM:618459
Autoimmune Lymphoproliferative Syndrome
Antineutrophil antibody positivity, Platelet antibody positive, Chronic noninfectious lymphadenop... OMIM:601859
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Decreased helper T cell proportion, Pancytopenia, Splenomegaly, Hypersplenism OMIM:183350
Neurodevelopmental Disorder With Spasticity, Hypomyelinating Leukodystrophy, And Brain Abnormalities
Pulmonary hypoplasia OMIM:616531
Neonatal Acute Respiratory Distress Due To Sp-B Deficiency
Intraalveolar phospholipid accumulation, Spontaneous neonatal pneumothorax, Interstitial pneumoni... ORPHA:217563
Igg4-Related Retroperitoneal Fibrosis
Rheumatoid arthritis, Systemic lupus erythematosus, Psoriasiform dermatitis, Hematuria, Deep derm... ORPHA:49041
Schimke Immuno-Osseous Dysplasia
Nephropathy, Minimal change glomerulonephritis, Focal segmental glomerulosclerosis, Bone marrow h... ORPHA:1830
Beta-Thalassemia Intermedia
Cholelithiasis, Proximal tubulopathy, Extramedullary hematopoiesis, Persistence of hemoglobin F, ... ORPHA:231222
Nephrotic Syndrome, Type 6
Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Stage 5 chronic kidney dis... OMIM:614196
Autoinflammation With Episodic Fever And Lymphadenopathy
Recurrent tonsillitis, Microcytic anemia, Splenomegaly, Antinuclear antibody positivity, Lymphade... OMIM:618852
Acquired Ichthyosis
Lymphoma, Neoplasm, Renal insufficiency, Autoimmunity, Sarcoma, Recurrent skin infections, Multip... ORPHA:454
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Recurrent pneumonia, Recurrent tonsillitis, Lymphadenitis, Eczematoid dermatitis, Granuloma, Lymp... OMIM:618935
Dermatomyositis
Abnormal eosinophil morphology, Anti-transcription intermediary factor-1gamma antibody positivity... ORPHA:221
Hemoglobin H Disease
HbH hemoglobin, Splenomegaly, Hepatomegaly, Reduced alpha/beta synthesis ratio, Hemolytic anemia OMIM:613978
Immunodeficiency 102
Nodular regenerative hyperplasia of liver, Recurrent upper respiratory tract infections, Reduced ... OMIM:301082
Combined Immunodeficiency Due To Dock8 Deficiency
Pneumonia, Atopic dermatitis, Chronic otitis media, Verrucae, Squamous cell carcinoma of the vulv... ORPHA:217390
Lipodystrophy, Partial, Acquired, With Low Complement Component C3, With Or Without Glomerulonephritis
Proteinuria, Hematuria, Nephrotic syndrome, Membranoproliferative glomerulonephritis OMIM:613913
Gamma-Heavy Chain Disease
Rheumatoid arthritis, Abnormal lymphocyte morphology, Autoimmunity, Splenomegaly, Skin rash, Auto... ORPHA:100026
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase
Recurrent pancreatitis, Splenomegaly OMIM:118830
Osteopetrosis, Autosomal Recessive 2
Mandibular osteomyelitis, Extramedullary hematopoiesis, Osteomyelitis, Hepatosplenomegaly, Pancyt... OMIM:259710
Paraneoplastic Pemphigus
Thymoma, B-cell lymphoma, Sarcoma ORPHA:63455
Immunodeficiency, Common Variable, 8, With Autoimmunity
Inflammation of the large intestine, Recurrent otitis media, Pancytopenia, Erythema nodosum, Auto... OMIM:614700
Cortical Dysplasia, Complex, With Other Brain Malformations 9
Short stature, Pulmonary hypoplasia OMIM:618174
Immunodeficiency 112
Reduced natural killer cell count, Chronic mucocutaneous candidiasis, Increased T cell count, Dec... OMIM:620449
Immunodeficiency 109 With Lymphoproliferation
Pancytopenia, Splenomegaly, Recurrent sinusitis, Hodgkin lymphoma, Generalized lymphadenopathy, A... OMIM:620282
Autosomal Dominant Severe Congenital Neutropenia
Pneumonia, Antineutrophil antibody positivity, Periodontitis, Aplastic anemia, Lymphopenia, Recur... ORPHA:486
Ataxia-Telangiectasia
Elevated circulating hepatic transaminase concentration, Abnormality of chromosome stability, Apl... ORPHA:100
Chronic Visceral Acid Sphingomyelinase Deficiency
Cholelithiasis, Hepatic failure, Decreased liver function, Systemic lupus erythematosus, Hyperspl... ORPHA:77293
Microcephaly-Glomerulonephritis-Marfanoid Habitus Syndrome
Chronic kidney disease, Glomerulonephritis ORPHA:2172
Chilblain Lupus
Discoid lupus rash, Inflammatory abnormality of the skin, Systemic lupus erythematosus, Chronic m... ORPHA:90280
Infantile Myofibromatosis
Neoplasm of the skin, Chondrocalcinosis, Benign neoplasm of the central nervous system, Fibroma, ... ORPHA:2591
Idiopathic Steroid-Resistant Nephrotic Syndrome
Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Acute kidney injury, Stage... ORPHA:567548
Complement Component C1S Deficiency
Hashimoto thyroiditis, Hepatitis, Systemic lupus erythematosus OMIM:613783
Renal-Hepatic-Pancreatic Dysplasia 1
Malformation of the hepatic ductal plate, Hepatic fibrosis, Biliary cirrhosis, Polysplenia, Chole... OMIM:208540
Cystic Echinococcosis
Cholestatic liver disease, Peritoneal abscess, Pulmonary cyst, Abnormality of the testis size, El... ORPHA:400
Renal Tubular Dysgenesis
Pulmonary hypoplasia ORPHA:3033
Coenzyme Q10 Deficiency, Primary, 8
Postnatal growth retardation, Intrauterine growth retardation, Pulmonary hypoplasia OMIM:616733
Galloway-Mowat Syndrome 2, X-Linked
Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Stage 5 chronic kidney dis... OMIM:301006
Adiposis Dolorosa
Painful subcutaneous lipomas, Obesity OMIM:103200
Obesity
Obesity, Increased waist to hip ratio OMIM:601665
Immunodeficiency 32B
Pneumonia, Neutrophilia, Impaired oxidative burst, Splenomegaly, Hepatomegaly, Eosinophilia, Mono... OMIM:226990
Microcephaly, Growth Restriction, And Increased Sister Chromatid Exchange 2
Increased susceptibility to spontaneous sister chromatid exchange OMIM:618097
Immunodeficiency 60 And Autoimmunity
Decreased proportion of memory B cells, Bronchiectasis, Pancytopenia, Splenomegaly, Crohn's disea... OMIM:618394
Tyrosinemia Type 1
Hepatomegaly, Splenomegaly, Hepatocellular carcinoma ORPHA:882
Follicular Lymphoma
Lymphoma, Splenomegaly, Weight loss, Lymphadenopathy, Abnormal peritoneum morphology, Mediastinal... ORPHA:545
Simple Cryoglobulinemia
Nephritis, Monoclonal immunoglobulin M proteinemia, Abnormal lung morphology, Rheumatoid factor p... ORPHA:91139
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Increased mean corpuscular volume, Extramedullary hematopoiesis, Decreased liver function, Ascite... OMIM:617021
Fanconi Anemia, Complementation Group J
Chromosomal breakage induced by crosslinking agents OMIM:609054
Lymphoproliferative Syndrome 1
Hemophagocytosis, Pancytopenia, Autoimmunity, Pleural effusion, Splenomegaly, Autoimmune hemolyti... OMIM:613011
Spermatogenic Failure, X-Linked, 1
Obesity OMIM:305700
Matthew-Wood Syndrome
Annular pancreas, Intrauterine growth retardation, Abnormal spleen morphology, Abnormal lung morp... ORPHA:2470
Systemic Lupus Erythematosus
Discoid lupus rash, Antineutrophil antibody positivity, Anti-La/SS-B antibody positivity, Leukope... ORPHA:536
Hereditary Spherocytosis
Spontaneous hemolytic crises, Cholelithiasis, Increased mean corpuscular hemoglobin concentration... ORPHA:822
Systemic Lupus Erythematosus 17
Myelitis, Anti-aquaporin 4 antibody positivity, Systemic lupus erythematosus, Lymphopenia, Leukop... OMIM:301080
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism
Jaundice, Splenomegaly, Nonspherocytic hemolytic anemia OMIM:206400
Anencephaly 1
Anencephaly, Spina bifida OMIM:206500
Alpha-Thalassemia-Myelodysplastic Syndrome
Acute leukemia, HbH hemoglobin, Microcytic anemia, Splenomegaly, Neutropenia, Thrombocytopenia, M... ORPHA:231401
Maffucci Syndrome
Pituitary adenoma, Chondrosarcoma, Neoplasm of the parathyroid gland, Breast carcinoma, Astrocyto... ORPHA:163634
Sarcoma, Synovial
Synovial sarcoma OMIM:300813
Alveolar Soft Part Sarcoma
Alveolar soft part sarcoma OMIM:606243
Arthrogryposis Multiplex Congenita 1, Neurogenic, With Myelin Defect
Stillbirth, Pulmonary hypoplasia OMIM:617468
Encephalopathy Due To Prosaposin Deficiency
Hepatomegaly, Splenomegaly ORPHA:139406
Obesity Due To Prohormone Convertase I Deficiency
Failure to thrive, Cholestasis, Obesity, Childhood-onset truncal obesity, Increased adipose tissue ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Failure to thrive, Cholestasis, Obesity, Childhood-onset truncal obesity, Increased adipose tissue ORPHA:71526
Gray Platelet Syndrome
Myelodysplasia, Splenomegaly, Thrombocytopenia ORPHA:721
Mercury Poisoning
Acute kidney injury, Interstitial pneumonitis ORPHA:330021
Q Fever
Hepatosplenomegaly, Hematuria, Antiphospholipid antibody positivity, Lupus anticoagulant, Hepatom... ORPHA:781
Caspase 8 Deficiency
Pneumonia, Eczematoid dermatitis, Decreased CD4:CD8 ratio, Splenomegaly, Recurrent sinopulmonary ... OMIM:607271
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Hemophagocytosis, Hepatosplenomegaly, Pancytopenia, Hodgkin lymphoma, Acute myeloid leukemia, Hem... ORPHA:158057
Selective Igm Deficiency
Allergic rhinitis, Rheumatoid arthritis, Lymphadenitis, Systemic lupus erythematosus, Decreased p... ORPHA:331235
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia
Recurrent pneumonia, Eczematoid dermatitis, Hypersegmentation of neutrophil nuclei, Lymphopenia, ... OMIM:617780
Immunodeficiency 13
Recurrent upper respiratory tract infections, Recurrent pneumonia, Recurrent otitis media, Lympho... OMIM:615518
Complement Factor I Deficiency
Recurrent urinary tract infections, Recurrent otitis media, Pyelonephritis, Renal insufficiency, ... OMIM:610984
Lethal Congenital Contracture Syndrome 1
Neonatal death, Pulmonary hypoplasia OMIM:253310
Hypertriglyceridemia, Transient Infantile
Hepatic fibrosis, Failure to thrive, Hepatic steatosis, Splenomegaly, Hepatomegaly OMIM:614480
Persistent Polyclonal B-Cell Lymphocytosis
Hepatomegaly, Lymphocytosis, Splenomegaly OMIM:606445
Diffuse Alveolar Hemorrhage
Antineutrophil antibody positivity, Autoimmunity, Leukocytosis, Hematuria, Proteinuria, Antiphosp... ORPHA:90060
Galactose Epimerase Deficiency
Hepatomegaly, Jaundice, Weight loss, Splenomegaly ORPHA:79238
Bacterial Toxic-Shock Syndrome
Abscess, Glomerulonephritis, Recurrent skin infections, Osteomyelitis, Renal insufficiency, Myosi... ORPHA:36234
Membranoproliferative Glomerulonephritis, X-Linked
Membranoproliferative glomerulonephritis OMIM:305800
Fragile X Syndrome
Macroorchidism, postpubertal, Folate-dependent fragile site at Xq28, Congenital macroorchidism OMIM:300624
Alpha-Heavy Chain Disease
Lymphoma, Ascites, Splenomegaly, Anemia, Lymphadenopathy, Hepatomegaly ORPHA:100025
Tularemia
Pneumonia, Brain abscess, Cutaneous abscess, Cervical lymphadenopathy, Abnormal nasopharyngeal ad... ORPHA:3392
Leukocyte Adhesion Deficiency
Lymphocytic interstitial pneumonia, Impaired neutrophil chemotaxis, Acute myeloid leukemia, Glome... ORPHA:2968
Triglyceride Storage Disease, Type Ii
Obesity OMIM:190430
Prader-Willi syndrome (Type 1)
Truncal obesity DECIPHER:14
Prader-Willi Syndrome (Type 2)
Truncal obesity DECIPHER:53
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome
Pulmonary hypoplasia ORPHA:2141
Common Variable Immunodeficiency
Pneumonia, Bronchiectasis, Lymphoma, Emphysema, Lymphopenia, Abnormality of the liver, Recurrent ... ORPHA:1572
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome
Intrauterine growth retardation, Splenomegaly, Pulmonary hypoplasia ORPHA:3035
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive
Pneumonia, Otitis media, Purulent rhinitis, Arthritis, B lymphocytopenia, Conjunctivitis, T lymph... OMIM:601457
Wolman Disease
Hepatomegaly, Splenomegaly, Failure to thrive OMIM:620151
Pallister-Hall-Like Syndrome
Short stature, Occipital encephalocele, Death in infancy, Pulmonary hypoplasia OMIM:241800
Hemoglobin D Disease
Reduced beta/alpha synthesis ratio, Reduced hemoglobin A, Imbalanced hemoglobin synthesis, Spleno... ORPHA:90039
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Recurrent pneumonia, Abnormal CD4:CD8 ratio, Recurrent aphthous stomatitis, Splenomegaly, Abscess... OMIM:150550
Sandhoff Disease
Hepatomegaly, Splenomegaly, Failure to thrive ORPHA:796
Congenital Syphilis
Pneumonia, Keratitis, Extramedullary hematopoiesis, Hepatosplenomegaly, Synovitis, Prolonged neon... ORPHA:499009
Spondylospinal Thoracic Dysostosis
Pulmonary hypoplasia OMIM:601809
Proteus Syndrome
Cerebriform connective tissue nevus, Splenomegaly, Multiple lipomas, Hemangioma, Lipoma, Lymphang... OMIM:176920
Acquired Partial Lipodystrophy
Autoimmunity, Hepatic steatosis, Proteinuria, Glomerulopathy, Lymphocytosis, Microscopic hematuria ORPHA:79087
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Abnormally low T cell receptor excision circle level, Recurrent pneumonia, Lymphadenitis, Recurre... OMIM:618986
Lipodystrophy, Congenital Generalized, Type 3
Generalized lipodystrophy, Hepatosplenomegaly, Reduced subcutaneous adipose tissue, Hepatic steat... OMIM:612526
Purine Nucleoside Phosphorylase Deficiency
Pneumonia, Decreased urinary urate, Recurrent upper respiratory tract infections, Lymphoma, Recur... OMIM:613179
Severe Combined Immunodeficiency, X-Linked
Pneumonia, Recurrent pneumonia, Skin rash, Hypoplasia of the thymus, Impaired lymphocyte transfor... OMIM:300400
Lymphoproliferative Syndrome, X-Linked, 2
Inflammation of the large intestine, Folliculitis, Aplastic anemia, Hepatitis, Hemophagocytosis, ... OMIM:300635
Systemic-Onset Juvenile Idiopathic Arthritis
Autoimmunity, Pleural effusion, Skin rash, Splenomegaly, Hepatomegaly, Lymphadenopathy, Arthritis... ORPHA:85414
Fanconi Anemia, Complementation Group O
Chromosome breakage, Cryptorchidism OMIM:613390
Meckel Syndrome, Type 6
Hepatic fibrosis, Occipital encephalocele, Absent gallbladder, Hepatic cysts, Cystic liver diseas... OMIM:612284
Bardet-Biedl Syndrome 11
Obesity OMIM:615988
Nephrotic Syndrome, Type 11
Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, IgA deposition in the glom... OMIM:616730
Congenital Bile Acid Synthesis Defect Type 2
Giant cell hepatitis, Hepatic failure, Elevated circulating hepatic transaminase concentration, E... ORPHA:79303
Immunodeficiency 97 With Autoinflammation
Hemophagocytosis, Recurrent otitis media, Lymphopenia, Hepatosplenomegaly, Decreased proportion o... OMIM:619802
Immunodeficiency, Common Variable, 12, With Autoimmunity
Atrophic gastritis, Recurrent pneumonia, Autoimmune hemolytic anemia, Recurrent sinusitis, Recurr... OMIM:616576
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency
Inflammation of the large intestine, Chronic mucocutaneous candidiasis, Eczematoid dermatitis, Re... ORPHA:98813
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Hepatic fibrosis, Periportal fibrosis, Portal hypertension, Hepatic cysts, Splenomegaly, Neonatal... OMIM:263200
Thumb Stiffness-Brachydactyly-Intellectual Disability Syndrome
Obesity ORPHA:1078
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Anemia, Splenomegaly, Thrombocytopenia, Abnormal hemoglobin ORPHA:231393
Myelofibrosis
Hemophagocytosis, Extramedullary hematopoiesis, Splenomegaly, Hepatomegaly, Myeloproliferative di... OMIM:254450
Alopecia Areata 1
Autoimmunity OMIM:104000
Combined Immunodeficiency Due To Crac Channel Dysfunction
Pneumonia, Autoimmunity, Neoplasm, Splenomegaly, Lymphadenopathy, Thrombocytopenia, Hepatomegaly,... ORPHA:169090
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Atrophic gastritis, Recurrent upper respiratory tract infections, Eczematoid dermatitis, Lymphope... OMIM:616100
Systemic Sclerosis
Chronic kidney disease, Barrett esophagus, Acute kidney injury, Anti-centromere antibody positivi... ORPHA:90291
Galactosemia Iii
Hepatomegaly, Jaundice, Splenomegaly, Failure to thrive OMIM:230350
Apc-Related Attenuated Familial Adenomatous Polyposis
Osteoma, Fibrosarcoma, Desmoid tumors, Adrenocortical adenoma, Medulloblastoma, Multiple gastric ... ORPHA:247806
Legius Syndrome
Acute monocytic leukemia, Male urethral meatus stenosis, Vestibular schwannoma, Nephroblastoma, N... ORPHA:137605
Radial-Renal Syndrome
Chromosome breakage OMIM:179280
Hashimoto Thyroiditis
Hashimoto thyroiditis, Autoimmune antibody positivity OMIM:140300
Bardet-Biedl Syndrome 14
Obesity OMIM:615991
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Recurrent upper respiratory tract infections, Hemophagocytosis, Hepatosplenomegaly, Splenomegaly,... OMIM:613101
Microlissencephaly
Pneumonia ORPHA:1083
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly
Neonatal death, Hydranencephaly, Stillbirth, Pulmonary hypoplasia OMIM:236500
Atelosteogenesis, Type Ii
Stillbirth, Death in infancy, Pulmonary hypoplasia OMIM:256050
Unclassified Myelodysplastic Syndrome
Bone marrow hypocellularity, Autoimmunity, Leukocytosis, Myelodysplasia, Acute myeloid leukemia, ... ORPHA:98827
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Pneumonia, Recurrent pneumonia, Inflammatory abnormality of the skin, Chronic mucocutaneous candi... OMIM:102700
Lymphatic Filariasis
Urethral obstruction, Lymphadenitis, Epididymitis, Hypereosinophilia, Abnormal scrotum morphology... ORPHA:2035
Dominant Beta-Thalassemia
Hepatic fibrosis, Reduced hemoglobin A, Extramedullary hematopoiesis, Persistence of hemoglobin F... ORPHA:231226
Beta-Thalassemia, Dominant Inclusion Body Type
Persistence of hemoglobin F, Microcytic anemia, Splenomegaly, Erythrocyte inclusion bodies, Hepat... OMIM:603902
Bardet-Biedl Syndrome 13
Obesity OMIM:615990
Immunodeficiency 11B With Atopic Dermatitis
Pneumonia, Atopic dermatitis, Ulcerative colitis, Colonic eosinophilia, Eosinophilia, Bronchiectasis OMIM:617638
Galloway-Mowat Syndrome 7
Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Eczematoid dermatitis, IgA... OMIM:618348
Isolated Congenital Hypoglossia/Aglossia
Hamartoma, Aspiration pneumonia ORPHA:141152
Lethal Hemolytic Anemia-Genital Anomalies Syndrome
Anemia, Splenomegaly, Aplasia/Hypoplasia of the lungs ORPHA:1046
T-Cell Lymphoma, Subcutaneous Panniculitis-Like
Hemophagocytosis, Subcutaneous panniculitis-like T-cell lymphoma, Pancytopenia, Autoimmunity, Spl... OMIM:618398
Systemic Lupus Erythematosus, Susceptibility To, 6
Abnormal renal physiology, Systemic lupus erythematosus, Malar rash, Antinuclear antibody positiv... OMIM:609939
Yellow Nail Syndrome
Biliary tract neoplasm, Neoplasm, Hypoplasia of lymphatic vessels, Renal neoplasm, Sarcoma, Neopl... ORPHA:662
Facioscapulohumeral Muscular Dystrophy 3, Digenic
Aspiration pneumonia OMIM:619477
Hemolytic Disease Of Fetus And Newborn, Rh-Induced
Hepatomegaly, Fetal ascites, Splenomegaly OMIM:619462
Immunodeficiency 110 With Lymphoproliferation
Recurrent upper respiratory tract infections, Recurrent pneumonia, Verrucae, Chronic mucocutaneou... OMIM:614868
Anti-Glomerular Basement Membrane Disease
Autoimmunity, Renal insufficiency, Proteinuria, Hematuria, Glomerulopathy, Arthritis, Anemia ORPHA:375
Fanconi Anemia, Complementation Group F
Pneumonia, Bone marrow hypocellularity, Renal hypoplasia, Microphallus, Leukopenia, Vesicouretera... OMIM:603467
Simpson-Golabi-Behmel Syndrome, Type 2
Obesity, Inguinal hernia OMIM:300209
Li-Fraumeni Syndrome
Choriocarcinoma, Colon cancer, Stomach cancer, Melanoma, Hodgkin lymphoma, Acute myeloid leukemia... ORPHA:524
Werner Syndrome
Gastrointestinal carcinoma, Chondrocalcinosis, Cutaneous melanoma, Neoplasm of the oral cavity, M... ORPHA:902
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections
Allergic rhinitis, Atopic dermatitis, Recurrent pneumonia, Reduced natural killer cell count, Ecz... OMIM:243700
Hyperbilirubinemia, Shunt, Primary
Erythroid hyperplasia, Splenomegaly, Anemia of inadequate production, Reticulocytosis, Hepatomega... OMIM:237800
Juvenile Arthritis
Antinuclear antibody positivity, Leukocytosis, Skin rash, Thrombocytosis OMIM:618795
Febrile Infection-Related Epilepsy Syndrome
Autoimmunity, Sinusitis ORPHA:163703
Mitochondrial Complex Iv Deficiency, Nuclear Type 16
Chromosomal breakage induced by crosslinking agents OMIM:619060
Insulin Autoimmune Syndrome
Autoimmunity, Systemic lupus erythematosus, Autoimmune antibody positivity, Arthralgia/arthritis ORPHA:411593
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome
Proteinuria, Glomerular sclerosis, Glomerulonephritis, Nephrotic syndrome, Hypospadias OMIM:619428
Immunodeficiency 69
Hemophagocytosis, Failure to thrive, Hepatosplenomegaly, Pancytopenia, Leukocytosis, Splenomegaly... OMIM:618963
X-Linked Intellectual Disability-Hypogonadism-Ichthyosis-Obesity-Short Stature Syndrome
Hernia of the abdominal wall, Obesity ORPHA:3055
X-Linked Agammaglobulinemia
Recurrent pneumonia, Abnormal lung morphology, Hepatitis, Osteomyelitis, Autoimmunity, Neoplasm, ... ORPHA:47
Severe Intellectual Disability-Hypotonia-Strabismus-Coarse Face-Planovalgus Syndrome
Obesity ORPHA:436141
Obesity Due To Melanocortin 4 Receptor Deficiency
Obesity, Childhood-onset truncal obesity, Increased adipose tissue ORPHA:71529
Immunoglobulin A Deficiency 1
Recurrent respiratory infections, Autoimmunity OMIM:137100
Intellectual Developmental Disorder, X-Linked, Syndromic, Wilson-Turner Type
Obesity OMIM:309585
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly
Renal hypoplasia, Stage 5 chronic kidney disease, Proteinuria, Hepatomegaly, Glomerulonephritis, ... OMIM:614376
Ataxia-Pancytopenia Syndrome
Acute myelomonocytic leukemia, Pancytopenia, Abnormal macrophage morphology, Splenomegaly, Hypopl... ORPHA:2585
Bardet-Biedl Syndrome 18
Obesity OMIM:615995
Goodpasture Syndrome
Reticular pattern on pulmonary HRCT, Glomerular crescent formation, Erythrocyte cylindruria, Anti... OMIM:233450
Lig4 Syndrome
Acute leukemia, Abnormality of chromosome stability, Lymphoma, Pancytopenia, Leukocytosis, Crypto... ORPHA:99812
Microphthalmia, Syndromic 9
Severe short stature, Agenesis of pulmonary vessels, Multilobulated spleen, Alveolar capillary dy... OMIM:601186
Postinfectious Vasculitis
Pneumonia, Bacterial endocarditis, Inflammatory abnormality of the skin, Rheumatoid factor positi... ORPHA:48435
Niemann-Pick Disease, Type B
Sea-blue histiocytosis, Splenomegaly, Hepatomegaly, Thrombocytopenia, Anemia, Abnormal pulmonary ... OMIM:607616
Gardner Syndrome
Colon cancer, Ampulla of Vater carcinoma, Hepatoblastoma, Brain neoplasm, Osteoma, Fibrosarcoma, ... ORPHA:79665
Actinic Prurigo
Pyoderma, Cheilitis, Glomerulonephritis OMIM:174770
Achondrogenesis Type 2
Short stature, Pulmonary hypoplasia ORPHA:93296
Spinal Muscular Atrophy With Congenital Bone Fractures 2
Pulmonary hypoplasia OMIM:616867
Alpha-1-Antitrypsin Deficiency
Splenomegaly, Chronic bronchitis, Cirrhosis, Panacinar emphysema, Bronchiectasis, Hepatocellular ... OMIM:613490
Adrenocortical Carcinoma
Increased urinary cortisol level, Abnormality of urine homeostasis, Adrenocortical carcinoma, Lun... ORPHA:1501
Immunodeficiency 98 With Autoinflammation, X-Linked
Bone marrow hypocellularity, Antineutrophil antibody positivity, Hemophagocytosis, Agranulocytosi... OMIM:301078
Dyssegmental Dysplasia, Silverman-Handmaker Type
Severe short stature, Occipital encephalocele, Disproportionate short-limb short stature, Neonata... OMIM:224410
Hypocomplementemic Urticarial Vasculitis
Lymphoma, Emphysema, Ascites, Autoimmunity, Renal insufficiency, Pleural effusion, Episcleritis, ... ORPHA:36412
B-Cell Expansion With Nfkb And T-Cell Anergy
Increased B cell count, Splenomegaly OMIM:616452
Mu-Heavy Chain Disease
Abnormal B cell count, Splenomegaly, Anemia, Weight loss, Lymphadenopathy, Hepatomegaly ORPHA:100024
Lysinuric Protein Intolerance
Hemophagocytosis, Hepatosplenomegaly, Cirrhosis, Glomerulonephritis, Hepatomegaly, Tubulointersti... ORPHA:470
Xeroderma Pigmentosum, Complementation Group E
Basal cell carcinoma, Defective DNA repair after ultraviolet radiation damage, Melanoma, Squamous... OMIM:278740
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency
Allergic rhinitis, Rheumatoid arthritis, Systemic lupus erythematosus, Recurrent otitis media, Ps... ORPHA:183675
Cerebral Dysgenesis, Neuropathy, Ichthyosis, And Palmoplantar Keratoderma Syndrome
Aspiration pneumonia OMIM:609528
Acquired Idiopathic Sideroblastic Anemia
Normocytic anemia, Bone marrow hypocellularity, Megaloblastic erythroid hyperplasia, Hypochromic ... ORPHA:75564
Cernunnos-Xlf Deficiency
Lymphopenia, Autoimmunity, Thrombocytopenia, B lymphocytopenia, Anemia, T lymphocytopenia ORPHA:169079
Chromosome 16P13.3 Deletion Syndrome, Proximal
Facial hemangioma, Obesity, Failure to thrive, Polysplenia OMIM:610543
Classic Hodgkin Lymphoma
Bone marrow hypocellularity, Lymphoma, Neoplasm, Splenomegaly, Weight loss, Lymphadenopathy, Hepa... ORPHA:391
Congenital Disorder Of Glycosylation, Type Iic
Pneumonia, Reduction of neutrophil motility, Bronchiolitis, Periodontitis, Recurrent otitis media... OMIM:266265
Congenital Bile Acid Synthesis Defect Type 1
Failure to thrive, Neonatal cholestatic liver disease, Splenomegaly, Biliary tract abnormality, C... ORPHA:79301
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Pneumonia, Abnormally low T cell receptor excision circle level, Recurrent upper respiratory trac... OMIM:602450
Cholestasis-Lymphedema Syndrome
Portal hypertension, Splenomegaly, Neonatal cholestatic liver disease, Biliary tract abnormality,... ORPHA:1414
Hemophagocytic Lymphohistiocytosis, Familial, 4
Hemophagocytosis, Skin rash, Splenomegaly, Hepatomegaly, Jaundice, Lymphadenopathy, Neutropenia, ... OMIM:603552
Hemoglobin C-Beta-Thalassemia Syndrome
Anemia, Splenomegaly, Microcytic anemia, Abnormal hemoglobin ORPHA:231242
Obesity And Hypopigmentation
Overgrowth, Obesity, Hepatic steatosis OMIM:620195
Bardet-Biedl Syndrome 10
Obesity OMIM:615987
Idiopathic Achalasia
Recurrent aspiration pneumonia, Bronchitis ORPHA:930
Amyloidosis, Hereditary Systemic 2
Nephropathy, Renal amyloidosis, Cholestasis, Skin rash, Splenomegaly, Proteinuria, Hematuria, Hep... OMIM:105200
Muscular Hypertonia, Lethal
Pneumonia OMIM:254120
Gaucher Disease, Perinatal Lethal
Hepatic failure, Intrauterine growth retardation, Hepatosplenomegaly, Splenomegaly, Neonatal deat... OMIM:608013
Linear Iga Dermatosis
Renal neoplasm, Inflammation of the large intestine, Autoimmunity, Bladder neoplasm ORPHA:46488
Bloom Syndrome
Chromosome breakage, Abnormality of chromosome stability, Lymphoma, Azoospermia, Cryptorchidism, ... OMIM:210900
Lymphoproliferative Syndrome 2
Recurrent pneumonia, Aplastic anemia, Hemophagocytosis, Lymphoma, Ascites, Hepatosplenomegaly, Pa... OMIM:615122
Neonatal Severe Primary Hyperparathyroidism
Hepatomegaly, Splenomegaly ORPHA:417
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Pneumonia, Recurrent pneumonia, Hepatitis, Lymphopenia, Hepatosplenomegaly, Otitis media, Eosinop... ORPHA:169160
Progressive Osseous Heteroplasia
Sarcoma ORPHA:2762
Fanconi Anemia, Complementation Group Q
Chromosome breakage, Biliary atresia OMIM:615272
Gillessen-Kaesbach-Nishimura Syndrome
Periportal fibrosis, Pulmonary hypoplasia, Abnormal lung lobation OMIM:263210
Pediatric Systemic Lupus Erythematosus
Microangiopathic hemolytic anemia, Systemic lupus erythematosus, Lymphopenia, Dark urine, Hematur... ORPHA:93552
Bardet-Biedl Syndrome 5
Obesity OMIM:615983
Frontal Encephalocele
Hydrocephalus, Encephalocele, Spina bifida ORPHA:1931
Syndromic X-Linked Intellectual Disability 7
Obesity ORPHA:85274
Primary Pulmonary Hypoplasia
Abnormal pulmonary artery morphology, Intrauterine growth retardation, Pneumothorax, Recurrent re... ORPHA:2257
1Q41Q42 Microdeletion Syndrome
Short stature, Hyposegmentation of neutrophil nuclei, Growth delay, Pulmonary hypoplasia ORPHA:250999
Fragile X Syndrome
Folate-dependent fragile site at Xq28, Macroorchidism ORPHA:908
Thanatophoric Dysplasia
Intrauterine growth retardation, Disproportionate short-limb short stature, Pulmonary hypoplasia ORPHA:2655
Tonne-Kalscheuer Syndrome
Short stature, Growth delay, Pulmonary hypoplasia OMIM:300978
Fanconi Anemia, Complementation Group P
Squamous cell carcinoma, Chromosomal breakage induced by crosslinking agents, Cryptorchidism OMIM:613951
Congenital Diaphragmatic Hernia
Pulmonary hypoplasia ORPHA:2140
Inclusion Body Myositis
Autoimmunity ORPHA:611
Intellectual Developmental Disorder, X-Linked 91
Obesity OMIM:300577
Red Cell Phospholipid Defect With Hemolysis
Splenomegaly, Reticulocytosis, Intermittent jaundice OMIM:179700
Lymphoproliferative Syndrome, X-Linked, 1
Abnormal T cell count, Aplastic anemia, Hemophagocytosis, Lymphoma, Pancytopenia, Abnormal B cell... OMIM:308240
Lethal Congenital Contracture Syndrome Type 1
Short stature, Pulmonary hypoplasia ORPHA:1486
Sea-Blue Histiocyte Disease
Cirrhosis, Splenomegaly, Thrombocytopenia, Sea-blue histiocytosis OMIM:269600
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Pneumonia, Abnormally low T cell receptor excision circle level, Reduced natural killer cell coun... ORPHA:276
Beta-Thalassemia Major
Hepatic fibrosis, Reduced hemoglobin A, Extramedullary hematopoiesis, Persistence of hemoglobin F... ORPHA:231214
Dermatofibrosarcoma Protuberans
Neoplasm of the skin, Fibrosarcoma ORPHA:31112
Omenn Syndrome
Pneumonia, Splenomegaly, Hypoplasia of the thymus, Eosinophilia, Anemia, Erythroderma, Lymphadeno... OMIM:603554
Familial Adenomatous Polyposis 1
Keloids, Adrenocortical adenoma, Fibroadenoma of the breast, Adenomatous colonic polyposis, Duode... OMIM:175100
Hypoinsulinemic Hypoglycemia With Hemihypertrophy
Large for gestational age, Obesity, Truncal obesity OMIM:240900
Alg3-Cdg
Decreased liver function, Neural tube defect, Pulmonary hypoplasia ORPHA:79321
Congenital Myopathy 1B, Autosomal Recessive
Recurrent respiratory infections, Pulmonary hypoplasia OMIM:255320
Odontochondrodysplasia 1
Mesomelic short stature, Death in infancy, Short stature, Recurrent respiratory infections, Pulmo... OMIM:184260
Intellectual Developmental Disorder, X-Linked 97
Obesity OMIM:300803
Mitochondrial Complex Iv Deficiency, Nuclear Type 14
Obesity OMIM:619058
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency
Obesity ORPHA:171706
Fanconi Anemia, Complementation Group B
Abnormality of chromosome stability, Aplastic anemia, Renal agenesis, Abnormal lung lobation, Hyp... OMIM:300514
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Abnormal T cell count, Lymphadenitis, Lymphopenia, Hepatosplenomegaly, Autoimmunity, Abnormal B c... ORPHA:331206
Abdominal Obesity-Metabolic Syndrome 1
Abdominal obesity OMIM:605552
Abdominal Obesity-Metabolic Syndrome Quantitative Trait Locus 2
Abdominal obesity OMIM:605572
Nijmegen Breakage Syndrome
Acute leukemia, Recurrent pneumonia, Glioma, Abnormality of chromosome stability, Lymphoma, Hemol... ORPHA:647
Ciliary Dyskinesia, Primary, 9
Pneumonia, Recurrent otitis media, Recurrent sinusitis, Chronic rhinitis, Chronic sinusitis, Chro... OMIM:612444
Macrophage Activation Syndrome
Hepatitis, Hemophagocytosis, Systemic lupus erythematosus, Autoimmunity, Splenomegaly, Increased ... ORPHA:158061
Multiple Acyl-Coa Dehydrogenase Deficiency
Hepatic periportal necrosis, Hepatic steatosis, Neonatal death, Hepatomegaly, Jaundice, Pulmonary... OMIM:231680
Congenital Disorder Of Glycosylation, Type Ik
Hepatomegaly, Flexion contracture, Splenomegaly, Joint contracture OMIM:608540
Alport Syndrome 3A, Autosomal Dominant
Thickened glomerular basement membrane, Nephritis, Nephrocalcinosis, Glomerular basement membrane... OMIM:104200
T-Cell Immunodeficiency With Thymic Aplasia
Pneumonia, Eczematoid dermatitis, Recurrent urinary tract infections, Autoimmunity, Decreased pro... ORPHA:83471
Classic Mycosis Fungoides
Neoplasm of the skin, Lymphoma, Abnormal lymphocyte morphology, Splenomegaly, Lymphadenopathy, He... ORPHA:2584
Cold Agglutinin Disease
Abnormal urinary color, Autoimmunity, Splenomegaly, Lymphadenopathy, Hepatomegaly, Hemolytic anemia ORPHA:56425
Xeroderma Pigmentosum, Complementation Group C
Cutaneous melanoma, Squamous cell carcinoma of the skin, Actinic keratosis, Basal cell carcinoma,... OMIM:278720
Gaucher Disease Type 2
Hepatomegaly, Flexion contracture, Splenomegaly ORPHA:77260
Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities
Obesity OMIM:620270
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull
Pulmonary hypoplasia OMIM:601163
Liposarcoma
Sarcoma, Weight loss ORPHA:69078
Mucous Membrane Pemphigoid
Autoimmunity ORPHA:46486
Opsoclonus-Myoclonus Syndrome
Small cell lung carcinoma, Ovarian teratoma, Neoplasm, Melanoma, Neuroblastoma, Autoimmune antibo... ORPHA:1183
Thanatophoric Dysplasia, Glasgow Variant
Anemia, Hepatosplenomegaly, Neonatal death OMIM:273680
Dyskeratosis Congenita, Autosomal Recessive 8
Bone marrow hypocellularity, Inflammation of the large intestine, Reduced natural killer cell cou... OMIM:620133
Severe Combined Immunodeficiency Due To Dclre1C Deficiency
Verrucae, Recurrent aphthous stomatitis, Autoimmunity, Skin rash, Otitis media, Hashimoto thyroid... ORPHA:275
Glycosylphosphatidylinositol Biosynthesis Defect 1
Portal vein thrombosis, Hepatomegaly, Portal hypertension, Splenomegaly OMIM:610293
Pulmonary Alveolar Proteinosis, Acquired
Pneumonia, Intraalveolar phospholipid accumulation, Brain abscess, Anti-granulocyte-macrophage co... OMIM:610910
Purine Nucleoside Phosphorylase Deficiency
Decreased urinary urate, Systemic lupus erythematosus, Lymphopenia, Autoimmunity, Neoplasm, Autoi... ORPHA:760
Sarcoidosis, Susceptibility To, 2
Mediastinal lymphadenopathy, Emphysema, Pleural effusion, Splenomegaly, Pneumothorax, Erythema no... OMIM:612387
Alpha-1-Antitrypsin Deficiency
Hepatitis, Bronchitis, Emphysema, Cholestasis, Jaundice, Cirrhosis, Perinuclear antineutrophil an... ORPHA:60
Mixed-Type Autoimmune Hemolytic Anemia
Lymphoma, Systemic lupus erythematosus, Abnormal urinary color, Autoimmunity, Autoimmune hemolyti... ORPHA:90036
Bone Marrow Failure Syndrome 3
Bone marrow hypocellularity, Chromosome breakage, Aplastic anemia, Eczematoid dermatitis, Increas... OMIM:617052
Cholestasis, Progressive Familial Intrahepatic, 10
Portal fibrosis, Failure to thrive, Splenomegaly, Acholic stools, Hepatomegaly, Jaundice OMIM:619868
Ghosal Hematodiaphyseal Dysplasia
Anemia, Splenomegaly ORPHA:1802
Cholestasis, Progressive Familial Intrahepatic, 12
Cholestasis, Hepatomegaly, Jaundice, Splenomegaly OMIM:620010
Ophthalmoplegia, External, And Myopia
Spina bifida OMIM:311000
Autoimmune Polyendocrinopathy Type 4
Atrophic gastritis, Non-caseating epithelioid cell granulomatosis, Aplasia/Hypoplasia of the sple... ORPHA:227990
Prolidase Deficiency
Recurrent pneumonia, Eczematoid dermatitis, Systemic lupus erythematosus, Splenomegaly, Crusting ... OMIM:170100
Carpenter Syndrome
Obesity, Polysplenia, Umbilical hernia ORPHA:65759
Chronic Myeloid Leukemia
Abnormal granulocyte morphology, Leukocytosis, Splenomegaly, Abnormal basophil morphology, Thromb... ORPHA:521
Spondyloenchondrodysplasia
Chronic kidney disease, Pneumonia, Granuloma, Hepatitis, Systemic lupus erythematosus, Anti-dsDNA... ORPHA:1855
Morbid Obesity And Spermatogenic Failure
Obesity, Hepatic steatosis OMIM:615703
Autism, Susceptibility To, X-Linked 6
Obesity OMIM:300872
Immunodeficiency 42
Hepatomegaly, Hypoplasia of the thymus, Splenomegaly OMIM:616622
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Hypersplenism, Splenomegaly, Anemia, Thrombocytopenia, Hepatomegaly OMIM:610539
Splenoportal Vascular Anomalies
Hepatic fibrosis, Ascites, Splenomegaly, Cirrhosis, Anomalous splenoportal venous system OMIM:271500
Young Syndrome
Bronchiectasis, Congenital pulmonary airway malformation, Recurrent sinopulmonary infections, Rec... OMIM:279000
Pfapa Syndrome
Hepatomegaly, Weight loss, Splenomegaly, Lymphadenopathy ORPHA:42642
Immunodeficiency 89 And Autoimmunity
Rheumatoid factor positive, Anti-thyroglobulin antibody positivity, Crohn's disease, Antinuclear ... OMIM:619632
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance
Chronic kidney disease, Minimal change glomerulonephritis, Focal segmental glomerulosclerosis, As... ORPHA:567546
Immunodeficiency 116
Recurrent respiratory infections, Bronchiectasis, Absence of CD8-positive T cells OMIM:608957
Mixed Connective Tissue Disease
Nephropathy, Mediastinal lymphadenopathy, Hemolytic anemia, Autoimmunity, Leukopenia, Skin rash, ... ORPHA:809
Secondary Non-Traumatic Avascular Necrosis
Rheumatoid arthritis, Systemic lupus erythematosus, Autoimmunity, Neoplasm, Hematological neoplasm ORPHA:399180
Acrocephalopolydactylous Dysplasia
Hepatic fibrosis, Polysplenia, Pancreatic fibrosis, Hepatomegaly, Extrapulmonary lobar sequestrat... OMIM:200995
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome
Bilateral lung agenesis, Neonatal death OMIM:601612
Aspergillosis
Pneumonia, Keratitis, Hepatitis, Osteomyelitis, Pleural effusion, Infectious encephalitis, Eosino... ORPHA:1163
Icf Syndrome
Abnormality of chromosome stability, Abnormality of neutrophils, Lymphopenia, Anemia, Recurrent r... ORPHA:2268
Autoimmune Hemolytic Anemia, Warm Type
Systemic lupus erythematosus, Abnormal urinary color, Autoimmunity, Autoimmune hemolytic anemia, ... ORPHA:90033
Deafness-Lymphedema-Leukemia Syndrome
Bone marrow hypocellularity, Acute leukemia, Leukocytosis, Splenomegaly, Weight loss, Lymphadenop... ORPHA:3226
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies
Pulmonary artery atresia, Recurrent respiratory infections, Mesenteric cyst, Pulmonary hypoplasia OMIM:618316
Immunodeficiency 92
Pneumonia, Osteomyelitis, Esophagitis, Leukocytosis, Sclerosing cholangitis, Lymphocytosis, Decre... OMIM:619652
T-Cell Immunodeficiency With Thymic Aplasia
Abnormally low T cell receptor excision circle level, Recurrent pneumonia, Eczematoid dermatitis,... OMIM:242700
Immunodeficiency By Defective Expression Of Mhc Class Ii
Abnormal CD4:CD8 ratio, Chronic mucocutaneous candidiasis, Recurrent respiratory infections, Panc... ORPHA:572
Meacham Syndrome
Accessory spleen, Congenital alveolar dysplasia, Scimitar anomaly, Death in childhood, Neonatal d... OMIM:608978
Lymphoid Interstitial Pneumonia
Rheumatoid arthritis, Bronchiectasis, Eczematoid dermatitis, Subpleural interstitial thickening, ... ORPHA:79128
Fusariosis
Abnormality of the spleen, Lymphopenia, Hematological neoplasm, Abnormality of the kidney, Neutro... ORPHA:228119
Preeclampsia
Chronic kidney disease, Acute kidney injury, Abnormality of the hepatic vasculature, Elevated cir... ORPHA:275555
Schnitzler Syndrome
Lymphoma, Leukocytosis, Splenomegaly, Skin rash, Hepatomegaly, Lymphadenopathy, Arthritis, Anemia ORPHA:37748
Fanconi Anemia, Complementation Group V
Bone marrow hypocellularity, Chromosomal breakage induced by crosslinking agents, Thrombocytopeni... OMIM:617243
Thanatophoric Dysplasia, Type I
Neonatal death, Disproportionate short-limb short stature, Lethal short-limbed short stature, Pul... OMIM:187600
Cryptorchidism-Arachnodactyly-Intellectual Disability Syndrome
Recurrent respiratory infections, Aplasia/Hypoplasia of the lungs ORPHA:1548
Ciliary Dyskinesia, Primary, 25
Recurrent pneumonia, Polysplenia, Recurrent otitis media, Chronic bronchitis, Recurrent sinusitis... OMIM:615482
Fanconi Anemia, Complementation Group E
Deficient excision of UV-induced pyrimidine dimers in DNA, Renal agenesis, Leukemia, Horseshoe ki... OMIM:600901
Fanconi Anemia, Complementation Group A
Deficient excision of UV-induced pyrimidine dimers in DNA, Renal agenesis, Leukemia, Horseshoe ki... OMIM:227650
Hemorrhagic Fever-Renal Syndrome
Chronic kidney disease, Pneumonia, Acute kidney injury, Oliguria, Elevated circulating hepatic tr... ORPHA:340
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome
Splenic infarction, Persistence of hemoglobin F, Increased red cell sickling tendency, Reticulocy... ORPHA:251380
Spondyloenchondrodysplasia With Immune Dysregulation
Pneumonia, Rheumatoid arthritis, Systemic lupus erythematosus, Recurrent otitis media, Lymphopeni... OMIM:607944
Hereditary Breast And/Or Ovarian Cancer Syndrome
Prostate cancer, Melanoma, Primary peritoneal carcinoma, Ovarian neoplasm, Neoplasm of the pancre... ORPHA:145
Whim Syndrome 1
Recurrent upper respiratory tract infections, Verrucae, Abnormal morphology of female internal ge... OMIM:193670
Maternal Uniparental Disomy Of Chromosome 2
Pulmonary hypoplasia, Postnatal growth retardation, Intrauterine growth retardation, Respiratory ... ORPHA:96179
X-Linked Alport Syndrome-Diffuse Leiomyomatosis
Nephropathy, Chronic kidney disease, Uterine neoplasm, Keratitis, Aspiration pneumonia, Vaginal n... ORPHA:1018
Serkal Syndrome
Growth delay, Pulmonary hypoplasia ORPHA:139466
Agammaglobulinemia 8B, Autosomal Recessive
Recurrent pneumonia, B Acute Lymphoblastic Leukemia, Pancytopenia, Splenomegaly, Increased propor... OMIM:619824
Infantile Osteopetrosis With Neuroaxonal Dysplasia
Pneumonia ORPHA:85179
Immunodeficiency 10
Recurrent pneumonia, Recurrent urinary tract infections, Recurrent otitis media, Splenomegaly, Au... OMIM:612783
Drug-Induced Lupus Erythematosus
Malar rash, Hematuria, Lupus anticoagulant, Serositis, Antinuclear antibody positivity, Thrombocy... ORPHA:231111
Cancer-Associated Retinopathy
Small cell lung carcinoma, Thymoma, Uterine neoplasm, Cutaneous melanoma, Pancreatic adenocarcino... ORPHA:71505
Immunodeficiency 57 With Autoinflammation
Inflammation of the large intestine, Reduced natural killer cell count, Skin rash, Perianal absce... OMIM:618108
Portal Hypertension, Noncirrhotic, 1
Hepatomegaly, Portal hypertension, Splenomegaly OMIM:617068
Gastrointestinal Stromal Tumor
Neoplasm of the colon, Abnormality of the liver, Esophageal neoplasm, Neoplasm of the small intes... ORPHA:44890
Fanconi Anemia, Complementation Group N
Medulloblastoma, Nephroblastoma, Acute myeloid leukemia, Chromosomal breakage induced by crosslin... OMIM:610832
Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies
Microcytic anemia, Hepatosplenomegaly, Lymphadenopathy, Fibroma OMIM:619750
Aicardi-Goutieres Syndrome 6
Splenomegaly, Chilblains, Thrombocytopenia, Hepatomegaly, Hemolytic anemia OMIM:615010
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs
Congenital pulmonary airway malformation, Intrauterine growth retardation, Bilateral lung agenesi... OMIM:611812
Diabetes Mellitus, Ketosis-Prone
Autoimmunity, Beta-cell dysfunction OMIM:612227
Ciliary Dyskinesia, Primary, 33
Recurrent pneumonia, Atelectasis, Recurrent otitis media, Recurrent bronchitis, Chronic rhinitis,... OMIM:616726
Coronary Artery Disease, Autosomal Dominant, 1
Obesity OMIM:608320
Fanconi Anemia, Complementation Group D2
Duplicated collecting system, Bone marrow hypocellularity, Deficient excision of UV-induced pyrim... OMIM:227646
Acalvaria
Hydrocephalus, Holoprosencephaly, Spina bifida ORPHA:945
Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features
Failure to thrive in infancy, Obesity OMIM:613670
Multiple Pterygium Syndrome, X-Linked
Intrauterine growth retardation, Pulmonary hypoplasia OMIM:312150
11Q22.2Q22.3 Microdeletion Syndrome
Hemangioma, Obesity ORPHA:444002
Melioidosis
Pneumonia, Brain abscess, Foot osteomyelitis, Cutaneous abscess, Hepatitis, Parotitis, Abnormalit... ORPHA:31202
Macrocephaly/Autism Syndrome
Lymphopenia, Obesity, Large for gestational age, Splenomegaly, Overgrowth, Hepatomegaly OMIM:605309
Meige Disease
Cellulitis, Atypical scarring of skin, Absence of lymph node germinal center, Lymph node hypoplas... ORPHA:90186
Syndromic Multisystem Autoimmune Disease Due To Itch Deficiency
Antineutrophil antibody positivity, Hepatitis, Hepatosplenomegaly, Hypersplenism, Autoimmunity, P... ORPHA:228426
Large Congenital Melanocytic Nevus
Neoplasm of the skin, Cutaneous melanoma, Neoplasm, Sarcoma, Rhabdomyosarcoma ORPHA:626
Autoimmune Polyendocrinopathy Type 3
Atrophic gastritis, Non-caseating epithelioid cell granulomatosis, Aplasia/Hypoplasia of the sple... ORPHA:227982
Jeune Syndrome
Short stature, Abnormality of the liver, Aplasia/Hypoplasia of the lungs ORPHA:474
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Hepatic fibrosis, Cholestasis, Obesity, Splenomegaly, Hepatomegaly OMIM:615630
Autoinflammatory Disease, Systemic, With Vasculitis
Cholestasis, Hepatosplenomegaly, Anti-Sm antibody positivity, Lupus anticoagulant, Elevated circu... OMIM:620376
Mounier-Kühn Syndrome
Pneumonia, Recurrent respiratory infections, Bronchitis, Recurrent bronchopulmonary infections ORPHA:3347
Fanconi Anemia, Complementation Group C
Bone marrow hypocellularity, Deficient excision of UV-induced pyrimidine dimers in DNA, Renal age... OMIM:227645
Rigid Spine Syndrome
Pneumonia ORPHA:97244
Anemia, Congenital Dyserythropoietic, Type Ii
Cholelithiasis, Splenomegaly, Anemia of inadequate production, Reticulocytosis, Jaundice OMIM:224100
Riddle Syndrome
Enuresis nocturna, Pneumonia, Recurrent pneumonia, Bronchitis, Otitis media, Recurrent sinusitis,... ORPHA:420741
Slc35A1-Cdg
Pneumonia, Giant platelets, Pulmonary hemorrhage, Abnormal platelet granules, Neutropenia, Thromb... ORPHA:238459
Proteasome-Associated Autoinflammatory Syndrome 4
Generalized lipodystrophy, Splenomegaly, Autoimmune hemolytic anemia, Lymphadenopathy, Hepatomega... OMIM:619183
Autosomal Recessive Polycystic Kidney Disease
Hepatic fibrosis, Spontaneous pneumothorax, Recurrent pneumonia, Periportal fibrosis, Cholestasis... ORPHA:731
Felty Syndrome
Rheumatoid arthritis, Splenomegaly, Neutropenia OMIM:134750
Monosomy 22
Contractures of the large joints, Gonadal neoplasm, Meningioma, Schwannoma, Hepatosplenomegaly, A... ORPHA:96123
Cholestasis, Progressive Familial Intrahepatic, 2
Intrahepatic cholestasis, Failure to thrive, Splenomegaly, Intermittent jaundice, Cirrhosis, Hepa... OMIM:601847
Familial Cold Autoinflammatory Syndrome 2
Recurrent aphthous stomatitis, Leukocytosis, Skin rash, Splenomegaly, Lymphadenopathy, Arthritis,... OMIM:611762
Idiopathic Chronic Eosinophilic Pneumonia
Atopic dermatitis, Atelectasis, Autoimmunity, Pleural effusion, Leukocytosis, Hypereosinophilia, ... ORPHA:2902
Familial Adenomatous Polyposis
Stomach cancer, Hepatoblastoma, Brain neoplasm, Osteoma, Desmoid tumors, Angiofibromas, Neoplasm ... ORPHA:733
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Intrauterine growth retardation, Pleural effusion, Pulmonary hypoplasia OMIM:616897
Autoinflammation With Arthritis And Dyskeratosis
Laryngeal papilloma, Hypereosinophilia, Splenomegaly, Autoimmune hemolytic anemia, Punctate kerat... OMIM:617388
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome
Chronic kidney disease, Renal insufficiency, Abnormal renal glomerulus morphology, Membranoprolif... OMIM:137940
Fetal Akinesia Deformation Sequence
Intrauterine growth retardation, Pulmonary hypoplasia ORPHA:994
Hernández-Aguirre Negrete Syndrome
Obesity ORPHA:2139
Hurler-Scheie Syndrome
Hernia, Hepatomegaly, Abnormality of the tonsils, Splenomegaly ORPHA:93476
Osteopetrosis, Autosomal Recessive 5
Extramedullary hematopoiesis, Ascites, Hepatosplenomegaly, Pancytopenia, Leukocytosis, Splenomega... OMIM:259720
Kagami-Ogata Syndrome
Hepatomegaly, Splenomegaly, Pulmonary hypoplasia OMIM:608149
11P15.4 Microduplication Syndrome
Obesity ORPHA:300305
Essential Thrombocythemia
Acute leukemia, Leukocytosis, Splenomegaly, Abnormal platelet morphology, Thrombocytosis, Myelody... ORPHA:3318
Nodular Non-Suppurative Panniculitis
Autoimmunity, Splenomegaly, Hepatomegaly, Inflammatory abnormality of the eye, Panniculitis ORPHA:33577
Anemia, Congenital Dyserythropoietic, Type Ib
Erythroid hyperplasia, Splenomegaly, Anemia of inadequate production, Anisocytosis, Reticulocytos... OMIM:615631
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia
Recurrent urinary tract infections, Lymphopenia, Leukopenia, Splenomegaly, Hepatomegaly, Recurren... OMIM:620210
Neonatal Lupus Erythematosus
Aplastic anemia, Pancytopenia, Malar rash, Hemolytic anemia, Splenomegaly, Skin rash, Abnormality... ORPHA:398124
Cubitus Valgus With Impaired Intellectual Development And Unusual Facies
Truncal obesity OMIM:300471
Diaphanospondylodysostosis
Intrauterine growth retardation, Disproportionate short-trunk short stature, Abnormal liver lobul... OMIM:608022
Hepatoportal Sclerosis
Anticardiolipin IgG antibody positivity, Nodular regenerative hyperplasia of liver, Periportal fi... ORPHA:64743
Pentalogy Of Cantrell
Polysplenia, Absent gallbladder, Encephalocele, Anencephaly, Pulmonary hypoplasia ORPHA:1335
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss
Hepatic bridging fibrosis, Hepatic fibrosis, Cholestasis, Splenomegaly, Jaundice OMIM:619658
Multiple Pterygium Syndrome, Lethal Type
Intrauterine growth retardation, Pulmonary hypoplasia OMIM:253290
Neural Tube Defects, Susceptibility To
Myelomeningocele, Spina bifida occulta, Anencephaly, Hydrocephalus OMIM:182940
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2
Pneumonia, Recurrent upper respiratory tract infections, Chronic bronchitis, B lymphocytopenia OMIM:614069
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Hepatic fibrosis, Death in infancy, Pancreatic fibrosis, Polycystic liver disease, Short stature,... OMIM:208500
Ovarian Fibrothecoma
Ascites, Diffuse leiomyomatosis, Peritonitis, Ovarian fibroma, Fibrosarcoma ORPHA:314478
Osteopetrosis, Autosomal Recessive 8
Failure to thrive, Splenomegaly, Anemia, Thrombocytopenia, Hepatomegaly OMIM:615085
Hemihyperplasia, Isolated
Myelomeningocele OMIM:235000
Nephronophthisis-Like Nephropathy 2
Stage 5 chronic kidney disease, Renal insufficiency, Polyuria, Tubular luminal dilatation, Perigl... OMIM:619468
Tetraploidy
Intrauterine growth retardation, Aplasia/Hypoplasia of the lungs, Aplasia/Hypoplasia of the thymus ORPHA:3305
Low Phospholipid-Associated Cholelithiasis
Intrahepatic cholestasis, Cholelithiasis, Biliary cirrhosis, Liver abscess, Obesity, Cholecystiti... ORPHA:69663
Bronchiectasis With Or Without Elevated Sweat Chloride 3
Bronchiectasis, Chronic bronchitis OMIM:613071
Aredyld Syndrome
Abnormal dental enamel morphology, Splenomegaly, Cachexia, Hepatomegaly, Lipoatrophy, Refractory ... ORPHA:1133
Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures
Obesity OMIM:616756
Hemochromatosis, Type 2B
Hepatic fibrosis, Splenomegaly, Anemia, Cirrhosis, Hepatomegaly OMIM:613313
Xq27.3Q28 Duplication Syndrome
Failure to thrive, Truncal obesity ORPHA:261483
Immunodeficiency 115 With Autoinflammation
Verrucae, Eczematoid dermatitis, Intestinal lymphangiectasia, Splenomegaly, Superficial dermal pe... OMIM:620632
Cutis Laxa, Autosomal Recessive, Type Ic
Accessory spleen, Peripheral pulmonary artery stenosis, Recurrent pneumonia, Atelectasis, Umbilic... OMIM:613177
Ciliary Dyskinesia, Primary, 21
Recurrent pneumonia, Atelectasis, Recurrent otitis media, Chronic sinusitis, Bronchiectasis OMIM:615294
X-Linked Intellectual Disability-Global Development Delay-Facial Dysmorphism-Sacral Caudal Remnant Syndrome
Lipoma, Obesity ORPHA:480907
Paternal Uniparental Disomy Of Chromosome 1
Proteinuria, Episodic hemolytic anemia, Membranoproliferative glomerulonephritis, Macroscopic hem... ORPHA:251004
Babesiosis
Hepatic failure, Leukopenia, Renal insufficiency, Splenomegaly, Thrombocytopenia, Recurrent phary... ORPHA:108
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Decreased proportion of memory B cells, Chronic mucocutaneous candidiasis, Urinary retention, Rec... ORPHA:79124
Sialidosis Type 2
Umbilical hernia, Ascites, Splenomegaly, Inguinal hernia, Hepatomegaly, Flexion contracture ORPHA:87876
Portal Hypertension, Noncirrhotic, 2
Nodular regenerative hyperplasia of liver, Ascites, Portal hypertension, Splenomegaly, Thrombocyt... OMIM:619463
Fanconi Anemia, Complementation Group R
Anemia, Bone marrow hypocellularity, Chromosomal breakage induced by crosslinking agents, Pelvic ... OMIM:617244
Subacute Cutaneous Lupus Erythematosus
Discoid lupus rash, Anti-Ro/SS-A antibody positivity, Anti-dsDNA antibody positivity, Malar rash,... ORPHA:163525
Lethal Intrauterine Growth Restriction-Cortical Malformation-Congenital Contractures Syndrome
Intrauterine growth retardation, Abnormal pleura morphology, Aplasia/Hypoplasia of the lungs, Hyd... ORPHA:2570
Immunodeficiency 22
Recurrent upper respiratory tract infections, Ascites, Autoimmunity, Decreased proportion of CD4-... OMIM:615758
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type
Rhizomelia, Stillbirth, Neonatal short-limb short stature, Pulmonary hypoplasia OMIM:151210
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome
Abnormal dental enamel morphology, Cholestasis, Portal hypertension, Splenomegaly, Scarring alope... ORPHA:59303
Microcephaly-Micromelia Syndrome
Neonatal death, Intrauterine growth retardation, Pulmonary hypoplasia OMIM:251230
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections
Atopic dermatitis, Recurrent pneumonia, Eczematoid dermatitis, Cutaneous abscess, Chronic mucocut... OMIM:618282
Pagod Syndrome
Pulmonary artery hypoplasia, Abnormality of the spleen, Encephalocele, Abnormality of the pulmona... ORPHA:991
Platyspondylic Dysplasia, Torrance Type
Disproportionate short-limb short stature, Pulmonary hypoplasia ORPHA:85166
Osteopetrosis, Autosomal Recessive 3
Anemia, Hepatosplenomegaly, Distal renal tubular acidosis, Extramedullary hematopoiesis OMIM:259730
Short Stature Due To Primary Acid-Labile Subunit Deficiency
Truncal obesity ORPHA:140941
Hereditary Pulmonary Alveolar Proteinosis
Crazy paving pattern, Autoimmune antibody positivity, Acute infectious pneumonia ORPHA:264675
Cholestasis-Lymphedema Syndrome
Neonatal cholestatic liver disease, Splenomegaly, Cirrhosis, Hepatomegaly, Jaundice OMIM:214900
Tracheal Agenesis
Aplasia/Hypoplasia of the lungs ORPHA:3346
Symptomatic Form Of Coffin-Lowry Syndrome In Female Carriers
Obesity ORPHA:276630
Gaucher Disease, Type Iii
Pancytopenia, Splenomegaly, Decreased body weight, Thrombocytopenia, Hepatomegaly OMIM:231000
Bardet-Biedl Syndrome 16
Obesity OMIM:615993
Spinocerebellar Ataxia, Autosomal Recessive 21
Hepatic bridging fibrosis, Hepatomegaly, Splenomegaly, Hepatic fibrosis OMIM:616719
Igg4-Related Aortitis
Autoimmunity, Hypereosinophilia, Cytoplasmic antineutrophil antibody positivity, Hydronephrosis, ... ORPHA:449400
Achondrogenesis
Severe short stature, Aplasia/Hypoplasia of the lungs, Umbilical hernia ORPHA:932
Congenital Disorder Of Glycosylation, Type Iio
Cholestatic liver disease, Hepatosplenomegaly, Splenomegaly, Prolonged neonatal jaundice, Cirrhos... OMIM:616828
Ciliary Dyskinesia, Primary, 23
Recurrent pneumonia, Recurrent otitis media, Recurrent sinusitis, Chronic bronchitis, Chronic rhi... OMIM:615451
Mirage Syndrome
Microphallus, Aspiration pneumonia, Recurrent urinary tract infections, Lymphopenia, Leukopenia, ... OMIM:617053
Xeroderma Pigmentosum, Complementation Group A
Defective DNA repair after ultraviolet radiation damage, Melanoma, Squamous cell carcinoma of the... OMIM:278700
Achondrogenesis Type 1B
Severe short stature, Disproportionate short stature, Aplasia/Hypoplasia of the lungs, Umbilical ... ORPHA:93298
Lipodystrophy, Familial Partial, Type 6
Lipodystrophy, Hepatic steatosis, Abdominal obesity OMIM:615980
Thrombocythemia 1
Splenomegaly, Thrombocytosis OMIM:187950
Ciliary Dyskinesia, Primary, 42
Pneumonia, Bronchiectasis, Recurrent sinusitis, Chronic rhinitis OMIM:618695
Whim Syndrome
Pneumonia, Recurrent upper respiratory tract infections, Recurrent pneumonia, Lymphadenitis, Verr... ORPHA:51636
Fanconi Anemia, Complementation Group I
Bone marrow hypocellularity, Renal hypoplasia, Horseshoe kidney, Vesicoureteral reflux, Abnormal ... OMIM:609053
Short-Rib Thoracic Dysplasia 12
Periportal fibrosis, Atelectasis, Intrauterine growth retardation, Splenomegaly, Neonatal death, ... OMIM:269860
Hemoglobin E Disease
Increased red blood cell count, Reduced hemoglobin A, Drug-sensitive hemolytic anemia, Splenomega... ORPHA:2133
Lethal Congenital Contracture Syndrome 10
Hypoplasia of the thymus, Intrauterine growth retardation, Pulmonary hypoplasia OMIM:617022
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Cardiomegaly, Obesity ORPHA:88643
Idiopathic Bronchiectasis
Emphysema, Respiratory tract infection, Acute infectious pneumonia, Recurrent lower respiratory t... ORPHA:60033
Cronkhite-Canada Syndrome
Gastrointestinal carcinoma, Stomach cancer, Intestinal polyposis, Neoplasm, Splenomegaly, Anemia,... ORPHA:2930
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Neonatal death, Pulmonary hypoplasia OMIM:314390
Dyssegmental Dysplasia, Silverman-Handmaker Type
Severe short stature, Miscarriage, Encephalocele, Pulmonary hypoplasia ORPHA:1865
Bullous Pemphigoid
Eczematoid dermatitis, Anti-BP180 antibody positivity, Psoriasiform dermatitis, Autoimmunity, Ant... ORPHA:703
Impaired Intellectual Development, Truncal Obesity, Retinal Dystrophy, And Micropenis Syndrome
Childhood-onset truncal obesity, Truncal obesity OMIM:610156
Majeed Syndrome
Acne, Inflammatory abnormality of the skin, Osteomyelitis, Leukocytosis, Splenomegaly, Proteinuri... ORPHA:77297
Fanconi Anemia, Complementation Group U
Chromosome breakage OMIM:617247
Ciliary Dyskinesia, Primary, 46
Recurrent otitis media, Recurrent pneumonia, Bronchiectasis, Recurrent sinusitis OMIM:619436
X-Linked Sideroblastic Anemia
Anemia, Splenomegaly ORPHA:75563
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly
Short stature, Hepatic fibrosis, Pulmonary hypoplasia OMIM:614091
Hyper-Ige Syndrome 4B, Autosomal Recessive, With Recurrent Infections
Keratitis, Eczematoid dermatitis, Recurrent otitis media, Eosinophilia, Recurrent respiratory inf... OMIM:618523
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Hepatosplenomegaly, Erythroid hyperplasia, Splenomegaly, Anisocytosis, Anemia, Cirrhosis, Elevate... OMIM:616860
Acute Panmyelosis With Myelofibrosis
Bone marrow hypocellularity, Acute myelomonocytic leukemia, Pancytopenia, Splenomegaly, Acute mye... ORPHA:86843
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Congenital pulmonary airway malformation, Lymphopenia, Psoriasiform dermatitis, Interface hepatit... OMIM:243150
Marden-Walker Syndrome
Postnatal growth retardation, Intrauterine growth retardation, Pulmonary hypoplasia OMIM:248700
Tracheobronchomegaly
Recurrent bronchopulmonary infections, Bronchiectasis OMIM:275300
Tuberous Sclerosis 2
Chordoma, Cortical tubers, Cardiac rhabdomyoma, Ependymoma, Pulmonary lymphangiomyomatosis, Renal... OMIM:613254
Laurence-Moon Syndrome
Obesity, Congenital hepatic fibrosis ORPHA:2377
Erythrocytosis, Familial, 8
Polycythemia, Increased hematocrit, Splenomegaly, Increased circulating hemoglobin concentration,... OMIM:222800
Lissencephaly Type 3-Metacarpal Bone Dysplasia Syndrome
Intrauterine growth retardation, Pulmonary hypoplasia ORPHA:86822
Ciliary Dyskinesia, Primary, 27
Recurrent respiratory infections, Recurrent otitis media, Chronic sinusitis, Recurrent sinusitis,... OMIM:615504
Ciliary Dyskinesia, Primary, 41
Recurrent otitis media, Bronchiectasis, Recurrent sinusitis OMIM:618449
Atelosteogenesis Type I
Neonatal short-trunk short stature, Rhizomelia, Abnormal pancreatic duct morphology, Pulmonary hy... ORPHA:1190
Mehmo Syndrome
Obesity, Small for gestational age OMIM:300148
Indolent Systemic Mastocytosis
Mastocytosis, Increased proportion of CD25+ mast cells, Splenomegaly, Skin rash, Lymphadenopathy,... ORPHA:98848
Ciliary Dyskinesia, Primary, 44
Bronchiectasis, Otitis media, Recurrent sinusitis OMIM:618781
Renal Tubular Dysgenesis
Pulmonary hypoplasia OMIM:267430
Glut1 Deficiency Syndrome 2
Splenomegaly, Hemolytic anemia, Reticulocytosis OMIM:612126
Scedosporiosis
Pneumonia, Bronchitis, Osteomyelitis, Abnormal renal morphology, Arthralgia/arthritis, Sinusitis,... ORPHA:449280
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Reduced red cell pyruvate kinase level, Congenital hemolytic anemia, Abnormal erythrocyte morphol... ORPHA:766
Congenital Rubella Syndrome
Splenomegaly, Skin rash, Abnormality of the pulmonary artery, Anemia, Thrombocytopenia, Hepatomeg... ORPHA:290
Ciliary Dyskinesia, Primary, 14
Recurrent pneumonia, Polysplenia, Otitis media, Chronic bronchitis, Chronic sinusitis, Recurrent ... OMIM:613807
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome
Anencephaly, Spina bifida ORPHA:2476
Hepatic Veno-Occlusive Disease
Hepatomegaly, Jaundice, Increased body weight, Ascites ORPHA:890
Agnathia-Otocephaly Complex
Pulmonary hypoplasia OMIM:202650
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Pulmonary hypoplasia OMIM:617895
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Inflammatory abnormality of the skin, Lymphopenia, Hepatosplenomegaly, Antiphospholipid antibody ... ORPHA:391487
Immunodeficiency 114, Folate-Responsive
Atopic dermatitis, Lymphopenia, Splenomegaly, Megaloblastic anemia, Thrombocytopenia, Hepatomegal... OMIM:620603
Renal Hypodysplasia/Aplasia 1
Pulmonary hypoplasia OMIM:191830
Nephronophthisis 2
Pulmonary hypoplasia OMIM:602088
Cryptococcosis
Pneumonia, Systemic lupus erythematosus, Osteomyelitis, Nodular pattern on pulmonary HRCT, Pleura... ORPHA:1546
Ciliary Dyskinesia, Primary, 47, And Lissencephaly
Recurrent respiratory infections, Chronic otitis media, Bronchiectasis, Atelectasis OMIM:619466
Ciliary Dyskinesia, Primary, 39
Recurrent otitis media, Recurrent lower respiratory tract infections, Bronchiectasis OMIM:618254
Ciliary Dyskinesia, Primary, 36, X-Linked
Recurrent respiratory infections, Bronchiectasis, Chronic otitis media, Recurrent sinusitis OMIM:300991
Czeizel-Losonci Syndrome
Myelomeningocele, Spina bifida occulta, Spina bifida, Pulmonary hypoplasia ORPHA:2437
Greenberg Dysplasia
Bone marrow hypocellularity, Rhizomelia, Disproportionate short-limb short stature, Abnormal lung... OMIM:215140
Leishmaniasis
Pancytopenia, Leukopenia, Splenomegaly, Abnormal macrophage morphology, Hepatomegaly, Lymphadenop... ORPHA:507
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly
Short stature, Pancreatic fibrosis, Pulmonary hypoplasia OMIM:615503
Sézary Syndrome
Neoplasm of the skin, Lymphoma, Abnormal lymphocyte morphology, Splenomegaly, Lymphadenopathy, He... ORPHA:3162
Vexas Syndrome
Arteritis, Inflammatory abnormality of the skin, Neutrophilic infiltration of the skin, Macrocyti... OMIM:301054
Pemphigus Erythematosus
Anti-acetylcholine receptor antibody positivity, Systemic lupus erythematosus, Malar rash, Autoim... ORPHA:79480
Bile Acid Synthesis Defect, Congenital, 5
Hepatic fibrosis, Portal fibrosis, Portal hypertension, Splenomegaly, Iron deficiency anemia, Hep... OMIM:616278
Craniosynostosis, Herrmann-Opitz Type
Short stature, Intrauterine growth retardation, Aplasia/Hypoplasia of the lungs ORPHA:2145
American Trypanosomiasis
Splenomegaly, Skin rash, Infectious encephalitis, Hepatomegaly, Lymphadenopathy, Myocarditis, Aut... ORPHA:3386
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form
Chronic kidney disease, Renal amyloidosis, Abnormality of the urinary system, IgA deposition in t... ORPHA:79408
Meckel Syndrome 14
Hepatic fibrosis, Pneumothorax, Occipital encephalocele, Pulmonary hypoplasia OMIM:619879
Morm Syndrome
Truncal obesity ORPHA:75858
Congenital Lipomatous Overgrowth, Vascular Malformations, And Epidermal Nevi
Lipoma, Splenomegaly, Nephroblastoma, Overgrowth OMIM:612918
Autosomal Agammaglobulinemia
Bronchiectasis, Verrucae, Hepatitis, Osteomyelitis, Skin rash, Arthritis, Sinusitis, Neutropenia,... ORPHA:33110
Good Syndrome
Thymoma, Aplasia/Hypoplasia of the thymus, Recurrent urinary tract infections, Abnormal leukocyte... ORPHA:169105
Lambert-Eaton Myasthenic Syndrome
Small cell lung carcinoma, Keratoconjunctivitis sicca, Calcium channel antibody positivity ORPHA:43393
Bardet-Biedl Syndrome 19
Obesity, Hepatic steatosis OMIM:615996
Overlap Myositis
Rheumatoid arthritis, Systemic lupus erythematosus, Leukopenia, Autoimmunity, Antinuclear antibod... ORPHA:206572
Neurofibromatosis Type 1
Neoplasm of the skin, Chronic myelogenous leukemia, Meningioma, Rhabdomyosarcoma, Tall stature, P... ORPHA:636
Tatton-Brown-Rahman Syndrome
Neuroendocrine neoplasm, Umbilical hernia, Obesity, Myeloid leukemia, Proportionate tall stature ORPHA:404443
Mucopolysaccharidosis-Plus Syndrome
Focal segmental glomerulosclerosis, Nephritis, Recurrent pneumonia, Bone marrow hypocellularity, ... OMIM:617303
Fetal Gaucher Disease
Abnormality of the spleen, Pancytopenia, Splenomegaly, Thrombocytopenia, Hepatomegaly, Flexion co... ORPHA:85212
Borjeson-Forssman-Lehmann Syndrome
Obesity OMIM:301900
Eosinophilic Granulomatosis With Polyangiitis
Abnormal pleura morphology, Autoimmunity, Renal insufficiency, Skin rash, Hematuria, Proteinuria,... ORPHA:183
Systemic Mastocytosis With Associated Hematologic Neoplasm
Chronic lymphatic leukemia, Hematological neoplasm, Acute myeloid leukemia, Weight loss, Neutroph... ORPHA:98849
Cholestasis, Progressive Familial Intrahepatic, 9
Malformation of the hepatic ductal plate, Intrahepatic cholestasis, Micronodular cirrhosis, Porta... OMIM:619849
Glycogen Storage Disease Ixb
Hepatomegaly, Splenomegaly, Increased hepatic glycogen content OMIM:261750
Microscopic Polyangiitis
Uveitis, Oliguria, Autoimmunity, Renal insufficiency, Episcleritis, Skin rash, Hematuria, Increas... ORPHA:727
Cholesteryl Ester Storage Disease
Hepatomegaly, Jaundice, Cirrhosis, Splenomegaly ORPHA:75234
Achondrogenesis Type 1A
Severe short stature, Aplasia/Hypoplasia of the lungs, Umbilical hernia ORPHA:93299
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis
Failure to thrive, Exocrine pancreatic insufficiency, Splenomegaly, Anemia of inadequate producti... OMIM:612714
Ciliary Dyskinesia, Primary, 1
Pneumonia, Bronchiectasis, Atelectasis, Recurrent bronchitis, Chronic sinusitis, Chronic rhinitis... OMIM:244400
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
Pneumonia, Recurrent upper respiratory tract infections, Absent natural killer cells, Recurrent o... OMIM:600802
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Renal insufficiency, Splenomegaly, Hepatomegaly, Pancreatitis, Neutropenia, Thrombocytopenia, Anemia ORPHA:79312
Bardet-Biedl Syndrome 22
Obesity, Large for gestational age OMIM:617119
Staphylococcal Necrotizing Pneumonia
Pneumonia, Leukopenia, Pleural effusion, Leukocytosis, Pneumothorax, Acute infectious pneumonia, ... ORPHA:36238
Body Mass Index Quantitative Trait Locus 20
Tall stature, Obesity OMIM:618406
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia
Pneumonia, Abnormal T cell count, Recurrent urinary tract infections, Recurrent otitis media, Pyo... OMIM:307200
Muckle-Wells Syndrome
Nephropathy, Renal amyloidosis, Recurrent aphthous stomatitis, Episcleritis, Skin rash, Splenomeg... ORPHA:575
Insulin-Resistance Syndrome Type B
Pneumonia, Nephritis, Biliary cirrhosis, Glycosuria, Lymphoma, Systemic lupus erythematosus, Leuk... ORPHA:2298
Summitt Syndrome
Tall stature, Obesity, Camptodactyly of finger ORPHA:3210
Pericardial And Diaphragmatic Defect
Pulmonary sequestration, Pulmonary hypoplasia ORPHA:2847
Subcorneal Pustular Dermatosis
Rheumatoid arthritis, Systemic lupus erythematosus, Autoimmunity, Pustule, Multiple myeloma ORPHA:48377
Acro-Renal-Mandibular Syndrome
Intrauterine growth retardation, Pulmonary hypoplasia, Abnormal lung lobation ORPHA:958
Wiskott-Aldrich Syndrome
Nephropathy, Acute leukemia, Inflammation of the large intestine, Abnormal eosinophil morphology,... ORPHA:906
Adams-Oliver Syndrome 5
Umbilical hernia, Hypersplenism, Inguinal hernia, Splenomegaly, Portal vein thrombosis, Right ven... OMIM:616028
Tetrasomy 5P
Postnatal growth retardation, Recurrent respiratory infections, Pulmonary hypoplasia ORPHA:3309
Microsporidiosis
Lymphadenitis, Urethritis, Abnormality of the spleen, Abnormality of the urinary system physiolog... ORPHA:2552
Trisomy 5P
Obesity ORPHA:1742
Antisynthetase Syndrome
Autoimmunity, Neoplasm, Skin rash, Myositis, Keratoconjunctivitis sicca, Arthritis, Myocarditis, ... ORPHA:81
Graft Versus Host Disease
Pneumonia, Inflammatory abnormality of the skin, Hemophagocytosis, Fasciitis, Acute hepatitis, He... ORPHA:39812
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections
Atopic dermatitis, Recurrent upper respiratory tract infections, Recurrent pneumonia, Reduced nat... OMIM:619752
Subependymal Nodular Heterotopia
Myelomeningocele, Meningocele, Occipital encephalocele, Nasofrontal encephalocele ORPHA:101030
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1
Pneumonia, Reduced natural killer cell count, Chronic bronchitis, Sinusitis, T lymphocytopenia, B... OMIM:242860
Legionnaires Disease
Bone marrow hypocellularity, Hepatitis, Lymphopenia, Abnormal pleura morphology, Renal insufficie... ORPHA:549
Teebi Hypertelorism Syndrome 1
Short stature, Pulmonary hypoplasia OMIM:145420
Severe Congenital Nemaline Myopathy
Pulmonary hypoplasia ORPHA:171430
Spherocytosis, Type 5
Abnormal leukocyte count, Splenomegaly, Reticulocytosis, Abnormal platelet count, Spherocytosis, ... OMIM:612690
Bardet-Biedl Syndrome 7
Obesity OMIM:615984
Autoinflammation With Infantile Enterocolitis
Diffuse alveolar hemorrhage, Reduced natural killer cell count, Pancytopenia, Splenomegaly, Skin ... OMIM:616050
Idiopathic Pulmonary Fibrosis
Reticular pattern on pulmonary HRCT, Usual interstitial pneumonia, Honeycomb lung, Abnormal pulmo... ORPHA:2032
Nephronophthisis 19
Malformation of the hepatic ductal plate, Hepatic fibrosis, Cholestasis, Splenomegaly, Hepatomega... OMIM:616217
Joubert Syndrome 33
Splenomegaly OMIM:617767
Severe Acute Respiratory Syndrome
Acute kidney injury, Neoplasm, Acute infectious pneumonia ORPHA:140896
Camptodactyly With Muscular Hypoplasia, Skeletal Dysplasia, And Abnormal Palmar Creases
Spina bifida OMIM:211960
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis
Obesity, Inguinal hernia, Hip contracture, Amelogenesis imperfecta, Enamel hypoplasia, Truncal ob... OMIM:618363
Ciliary Dyskinesia, Primary, 3
Recurrent otitis media, Recurrent respiratory infections, Bronchiectasis, Recurrent sinusitis OMIM:608644
Bloom Syndrome
Neoplasm of the skin, Neoplasm of the colon, Stomach cancer, Abscess, Abnormal proportion of CD8-... ORPHA:125
Spinal Muscular Atrophy With Congenital Bone Fractures 1
Pulmonary hypoplasia OMIM:616866
Wolman Disease
Ascites, Splenomegaly, Anemia, Cachexia, Hepatomegaly, Bone-marrow foam cells ORPHA:75233
Sjogren Syndrome
Tubulointerstitial nephritis, Rheumatoid arthritis, Autoimmunity, Keratoconjunctivitis sicca OMIM:270150
Wilson Disease
Hepatitis, Failure to thrive, Acute hepatitis, Hepatic steatosis, Splenomegaly, Increased body we... ORPHA:905
Subaortic Stenosis-Short Stature Syndrome
Obesity, Inguinal hernia, Biliary tract abnormality ORPHA:3191
Craniorachischisis
Spinal dysraphism, Myelomeningocele, Sirenomelia, Cervical spina bifida, Anencephaly ORPHA:63260
Thrombocytopenia With Beta-Thalassemia, X-Linked
Increased RBC distribution width, Reduced platelet alpha granules, Reticulocytosis, Splenomegaly,... OMIM:314050
Immunodeficiency 61
Obesity OMIM:300310
Hereditary Motor And Sensory Neuropathy, Okinawa Type
Abnormality of the urinary system, Aspiration pneumonia ORPHA:90117
Retinoblastoma
Cellulitis, Pineoblastoma, Glioma, Lymphoma, Ewing sarcoma, Retinoblastoma, Melanoma, Leiomyosarc... ORPHA:790
Avian Influenza
Pneumonia, Acute kidney injury, Myelitis, Elevated circulating hepatic transaminase concentration... ORPHA:454836
Temple Syndrome
Obesity, Truncal obesity, Flexion contracture, Overweight, Small for gestational age OMIM:616222
Boomerang Dysplasia
Severe short-limb dwarfism, Aplasia/Hypoplasia of the lungs ORPHA:1263
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency
Normocytic anemia, Cholelithiasis, Splenomegaly, Cholecystitis, Reticulocytosis, Nonspherocytic h... OMIM:235700
Terminal Osseous Dysplasia
Camptodactyly of toe, Multiple joint contractures, Fibroma, Camptodactyly of finger OMIM:300244
Chromosome 1Q41-Q42 Deletion Syndrome
Short stature, Pulmonary hypoplasia OMIM:612530
Hemochromatosis, Type 2A
Hepatomegaly, Cirrhosis, Splenomegaly OMIM:602390
Myasthenia Gravis
Rheumatoid arthritis, Hepatitis, Glycosuria, Systemic lupus erythematosus, Anti-acetylcholine rec... ORPHA:589
Meckel Syndrome, Type 2
Intrauterine growth retardation, Anencephaly, Encephalocele, Meningocele OMIM:603194
Congenital Disorder Of Glycosylation, Type Iiw
Moderate albuminuria, Elevated circulating hepatic transaminase concentration, Increased hepatic ... OMIM:619525
Proteasome-Associated Autoinflammatory Syndrome 3
Failure to thrive, Lymphopenia, Splenomegaly, Anemia, Lipodystrophy, Lymphadenopathy, Thrombocyto... OMIM:617591
Sea-Blue Histiocytosis
Sea-blue histiocytosis, Splenomegaly, Thrombocytopenia, Hepatomegaly, Mediastinal lymphadenopathy ORPHA:158029
Fanconi Anemia
Cryptorchidism, Renal hypoplasia/aplasia, Hypospadias, Patent ductus arteriosus, Pyridoxine-respo... ORPHA:84
Ankylosing Vertebral Hyperostosis With Tylosis
Obesity ORPHA:2206
Hereditary Orotic Aciduria
Aminoaciduria, Oroticaciduria, Abnormality of the ureter, Splenomegaly, Orotic acid crystalluria,... ORPHA:30
Refractory Celiac Disease
Normocytic anemia, Inflammatory abnormality of the skin, Lymphoma, Microcytic anemia, Abnormal sp... ORPHA:398063
Ciliary Dyskinesia, Primary, 28
Recurrent otitis media, Recurrent sinusitis, Chronic bronchitis, Rhinitis, Recurrent respiratory ... OMIM:615505
Nephronophthisis 15
Obesity OMIM:614845
Combined Oxidative Phosphorylation Deficiency 51
Aspiration pneumonia OMIM:619057
Microduplication Xp11.22P11.23 Syndrome
Obesity ORPHA:217377
Bardet-Biedl Syndrome 4
Obesity OMIM:615982
Rafiq Syndrome
Flexion contracture, Obesity, Truncal obesity OMIM:614202
Fish-Eye Disease
Hepatomegaly, Splenomegaly, Lymphadenopathy ORPHA:79292
Aminopterin/Methotrexate Embryofetopathy
Spinal dysraphism, Intrauterine growth retardation, Encephalocele, Hydrocephalus, Short stature, ... ORPHA:1908
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome
Abnormal lung lobation, Death in infancy, Spina bifida, Aplasia/Hypoplasia of the lungs, Anomalou... ORPHA:1120
48,Xxyy Syndrome
Lymphoma, Abnormal dental enamel morphology, Tall stature, Obesity, Inguinal hernia ORPHA:10
Familial Thrombocytosis
Chronic myelogenous leukemia, Splenomegaly, Acute myeloid leukemia, Weight loss, Thrombocytosis, ... ORPHA:71493
Acute Interstitial Pneumonia
Reticulonodular pattern on pulmonary HRCT, Atelectasis, Interlobular septal thickening, Reduced h... ORPHA:79126
Immunodeficiency 93 And Hypertrophic Cardiomyopathy
Crohn's disease, Absent circulating B cells, Decreased proportion of class-switched memory B cell... OMIM:619705
Meckel Syndrome, Type 4
Intrauterine growth retardation, Encephalocele, Hydrocephalus, Meningocele, Anencephaly OMIM:611134
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Recurrent otitis media, Lymphopenia, Hepatosplenomegaly, Pancytopenia, Lupus anticoagulant, Eryth... OMIM:615688
Intellectual Developmental Disorder With Behavioral Abnormalities And Craniofacial Dysmorphism With Or Without Seizures
Obesity OMIM:618725
Tarp Syndrome
Extramedullary hematopoiesis, Horseshoe kidney, Cryptorchidism, Hydronephrosis, Pulmonary hypoplasia ORPHA:2886
Bronchiectasis With Or Without Elevated Sweat Chloride 2
Abnormality of exocrine pancreas physiology, Bronchiectasis, Recurrent bronchiolitis, Chronic bro... OMIM:613021
Acromesomelic Dysplasia, Grebe Type
Sarcoma ORPHA:2098
Ciliary Dyskinesia, Primary, 48, Without Situs Inversus
Recurrent otitis media, Recurrent pneumonia, Bronchiectasis, Recurrent sinusitis OMIM:620032
Shigellosis
Pneumonia, Acute kidney injury, Uveitis, Hepatic failure, Microangiopathic hemolytic anemia, Ulce... ORPHA:810
Renal Agenesis, Bilateral
Sirenomelia, Pulmonary hypoplasia ORPHA:1848
Bile Acid Synthesis Defect, Congenital, 2
Intrahepatic cholestasis, Failure to thrive, Splenomegaly, Hepatomegaly, Jaundice OMIM:235555
Xeroderma Pigmentosum, Complementation Group D
Defective DNA repair after ultraviolet radiation damage, Melanoma OMIM:278730
Allergic Bronchopulmonary Aspergillosis
Emphysema, Abnormal eosinophil morphology, Bronchiectasis ORPHA:1164
Distal Triplication 15Q
Intrauterine growth retardation, Pulmonary hypoplasia ORPHA:314588
Cholestasis, Progressive Familial Intrahepatic, 3
Intrahepatic cholestasis, Portal fibrosis, Portal inflammation, Ascites, Splenomegaly, Cirrhosis,... OMIM:602347
Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, And Migraine Headache Syndrome
Pancytopenia, Splenomegaly OMIM:614979
Scimitar Syndrome
Pulmonary artery hypoplasia, Bronchogenic cyst, Pneumothorax, Partial anomalous pulmonary venous ... ORPHA:185
Gaucher Disease Type 1
Splenic infarction, Cholelithiasis, Hepatic failure, Ascites, Hepatosplenomegaly, Hypersplenism, ... ORPHA:77259
Metatropic Dysplasia
Severe short stature, Aplasia/Hypoplasia of the lungs ORPHA:2635
Neurodevelopmental Disorder With Epilepsy And Brain Atrophy
Recurrent aspiration pneumonia OMIM:619971
Complement Factor B Deficiency
Pneumonia, Peritonitis OMIM:615561
Fanconi Anemia, Complementation Group L
Unilateral renal agenesis, Renal hypoplasia, Bone marrow hypocellularity, Chromosome breakage, Ap... OMIM:614083
Dehydrated Hereditary Stomatocytosis 2
Increased mean corpuscular volume, Increased mean corpuscular hemoglobin concentration, Thrombocy... OMIM:616689
Autosomal Recessive Multiple Pterygium Syndrome
Umbilical hernia, Intrauterine growth retardation, Short stature, Spina bifida occulta, Pulmonary... ORPHA:2990
Mehmo Syndrome
Obesity ORPHA:85282
Ornithine Transcarbamylase Deficiency
Splenomegaly ORPHA:664
Achondroplasia
Death in infancy, Rhizomelia, Neonatal short-limb short stature, Pulmonary hypoplasia OMIM:100800
Schisis Association
Anencephaly, Encephalocele, Spina bifida ORPHA:63862
Agammaglobulinemia, X-Linked
Recurrent pneumonia, Bronchiectasis, Conjunctivitis, Recurrent urinary tract infections, Recurren... OMIM:300755
Gastrointestinal Defects And Immunodeficiency Syndrome 2
Lymphopenia, Interstitial emphysema, Bronchiectasis, Pulmonary hypoplasia OMIM:619708
Nail-Patella Syndrome
Renal insufficiency, Hematuria, Proteinuria, Glomerulonephritis, Nephrotic syndrome OMIM:161200
Farber Lipogranulomatosis
Hepatomegaly, Splenomegaly, Failure to thrive, Lipogranulomatosis OMIM:228000
Cholestasis, Progressive Familial Intrahepatic, 1
Cholelithiasis, Failure to thrive, Splenomegaly, Cirrhosis, Intrahepatic cholestasis with episodi... OMIM:211600
Dermatitis Herpetiformis
Microcytic anemia, Autoimmunity, Eczematoid dermatitis ORPHA:1656
Autoimmune Disease, Multisystem, With Facial Dysmorphism
Hepatitis, Hypersplenism, Autoimmunity, Pancytopenia, Splenomegaly, Portal hypertension, Hashimot... OMIM:613385
Peroxisome Biogenesis Disorder 1A (Zellweger)
Death in childhood, Prolonged neonatal jaundice, Hepatomegaly, Intrahepatic biliary dysgenesis, P... OMIM:214100
Harderoporphyria
Splenomegaly, Reticulocytosis, Hepatomegaly, Prolonged neonatal jaundice, Hemolytic anemia OMIM:618892
Chromosome 13Q33-Q34 Deletion Syndrome
Short stature, Anencephaly, Encephalocele, Pulmonary hypoplasia OMIM:619148
Beta-Thalassemia
Cholelithiasis, Hepatitis, Microcytic anemia, Splenomegaly, Abnormal hemoglobin, Hepatomegaly, Th... ORPHA:848
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Obesity ORPHA:329249
Familial Partial Lipodystrophy, Dunnigan Type
Cellulitis, Hepatic steatosis, Splenomegaly, Lipodystrophy, Pancreatitis, Loss of subcutaneous ad... ORPHA:2348
Griscelli Syndrome Type 2
Hemophagocytosis, Pancytopenia, Splenomegaly, Lymphadenopathy, Neutropenia, Hepatomegaly, Jaundice ORPHA:79477
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia
Decreased mean platelet volume, Inflammation of the large intestine, Recurrent pneumonia, Cervica... OMIM:617718
Ciliary Dyskinesia, Primary, 51
Irregularly shaped sperm tail, Recurrent sinusitis, Chronic rhinitis, Short sperm flagella, Oligo... OMIM:620438
Fgfr2-Related Bent Bone Dysplasia
Hepatosplenomegaly, Extramedullary hematopoiesis, Clitoral hypertrophy ORPHA:313855
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Lymphopenia, Hepatosplenomegaly, Cryptorchidism, Neutropenia, Hepatomegaly, Recurrent lower respi... OMIM:612541
X-Linked Centronuclear Myopathy
Pneumonia, Recurrent respiratory infections ORPHA:596
Osteopetrosis, Autosomal Dominant 3
Hepatomegaly, Anemia, Splenomegaly OMIM:618107
Alpha-Mannosidosis, Adult Form
Pneumonia, Hepatosplenomegaly, Pancytopenia, Oligosacchariduria ORPHA:309288
Limited Cutaneous Systemic Sclerosis
Pulmonary fibrosis, Autoimmunity ORPHA:220402
Nthl1-Related Attenuated Familial Adenomatous Polyposis
Neoplasm of the skin, Meningioma, Pancreatic adenocarcinoma, Endometrial carcinoma, Duodenal aden... ORPHA:454840
Chung-Jansen Syndrome
Obesity OMIM:617991
Chromosome Xq21 Deletion Syndrome
Obesity OMIM:303110
Neurodegeneration And Seizures Due To Copper Transport Defect
Pneumothorax, Pulmonary hypoplasia OMIM:620306
Ciliary Dyskinesia, Primary, 11
Recurrent sinusitis, Chronic bronchitis, Chronic rhinitis, Recurrent respiratory infections, Bron... OMIM:612649
Nevus Comedonicus Syndrome
Spina bifida occulta, Spina bifida ORPHA:64754
Ciliary Dyskinesia, Primary, 35
Recurrent pneumonia, Abdominal situs ambiguus, Chronic sinusitis, Chronic rhinitis, Chronic otiti... OMIM:617092
Timothy Syndrome
Pneumonia, Patent ductus arteriosus, Cardiomegaly, Bronchitis OMIM:601005
Tracheobronchopathia Osteochondroplastica
Pneumonia, Recurrent pneumonia, Bronchitis, Atelectasis, Esophagitis, Recurrent respiratory infec... ORPHA:3348
Anemia, Hypochromic Microcytic, With Iron Overload 2
Sideroblastic anemia, Splenomegaly, Anemia, Elevated hepatic iron concentration, Poikilocytosis, ... OMIM:615234
Autosomal Recessive Amelia
Aplasia/Hypoplasia of the lungs ORPHA:1027
Non-Acquired Isolated Growth Hormone Deficiency
Prolonged neonatal jaundice, Abdominal obesity ORPHA:631
Polymyositis
Autoimmunity, Abnormal renal tubule morphology, Arthritis, Breast carcinoma, Hepatomegaly, Abnorm... ORPHA:732
Ciliary Dyskinesia, Primary, 45
Recurrent respiratory infections, Bronchiectasis, Chronic rhinitis OMIM:618801
Polycythemia Vera
Increased hematocrit, Leukocytosis, Splenomegaly, Increased red blood cell mass, Increased circul... OMIM:263300
Cholesteryl Ester Storage Disease
Hepatic bridging fibrosis, Hepatic fibrosis, Periportal fibrosis, Increased hepatic echogenicity,... OMIM:278000
Cocaine Intoxication
Acute kidney injury, Diffuse alveolar hemorrhage, Hematuria, Proteinuria, Pulmonary edema, Pneumo... ORPHA:90068
Desmoid Tumor
Neoplasm of the skin, Intestinal polyposis, Fibroma, Desmoid tumors ORPHA:873
Immunodeficiency 31C
Chronic mucocutaneous candidiasis, Eczematoid dermatitis, Osteomyelitis, Lymphopenia, Splenomegal... OMIM:614162
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Obesity, Keloids ORPHA:3085
Impaired Intellectual Development, Obesity, Mandibular Prognathism, And Eye And Skin Anomalies
Obesity OMIM:606772
Achondrogenesis, Type Ia
Disproportionate short-trunk short stature, Stillbirth, Pulmonary hypoplasia OMIM:200600
Mhc Class I Deficiency 1
Bronchiolitis, Bronchiectasis, Emphysema, Recurrent bronchitis, Chronic sinusitis, Chronic otitis... OMIM:604571
Hb Bart'S Hydrops Fetalis
Abnormal hemoglobin, Splenomegaly, Hepatomegaly, Anemia, Pericarditis ORPHA:163596
Spastic Paraplegia-Intellectual Disability-Nystagmus-Obesity Syndrome
Obesity ORPHA:521390
Obesity, Hyperphagia, And Developmental Delay
Obesity OMIM:613886
Thrombocytopenia, Anemia, And Myelofibrosis
Anemia, Splenomegaly, Thrombocytopenia, Anisopoikilocytosis OMIM:617441
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations
Nephropathy, Pneumonia, Abnormality of the hepatic vasculature, Normocytic anemia, Nodular regene... ORPHA:247691
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 8
Nodular regenerative hyperplasia of liver, Usual interstitial pneumonia, Increased mean corpuscul... OMIM:620367
Chiari Malformation Type Ii
Myelomeningocele, Hydrocephalus, Cervical myelopathy, Spina bifida OMIM:207950
Intellectual Disability-Obesity-Brain Malformations-Facial Dysmorphism Syndrome
Obesity ORPHA:352530
Mosaic Trisomy 1
Pulmonary artery atresia, Hepatic agenesis, Pulmonary hypoplasia ORPHA:1692
Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome
Truncal obesity ORPHA:2429
Polycystic Ovary Syndrome 1
Enlarged polycystic ovaries, Obesity OMIM:184700
Pyruvate Kinase Deficiency Of Red Cells
Cholelithiasis, Reduced red cell pyruvate kinase level, Erythroid hyperplasia, Splenomegaly, Reti... OMIM:266200
Beta-Mercaptolactate Cysteine Disulfiduria
Obesity, Umbilical hernia ORPHA:1035
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects
Umbilical hernia, Stillbirth, Short stature, Mild intrauterine growth retardation, Pulmonary hypo... OMIM:308050
Glycogen Storage Disease Ixa1
Hepatomegaly, Splenomegaly OMIM:306000
Coccidioidomycosis
Morbilliform rash, Abnormality of the spleen, Abscess, Abnormality of the female genitalia, Eryth... ORPHA:228123
Cushing Syndrome Due To Ectopic Acth Secretion
Small cell lung carcinoma, Malignant gastrointestinal tract tumors, Abnormal lymph node morpholog... ORPHA:99889
Immunodeficiency 82 With Systemic Inflammation
Pustular rash, Recurrent otitis media, Follicular hyperplasia, Recurrent skin infections, Osteomy... OMIM:619381
Senior-Loken Syndrome 9
Cholestasis, Hepatic fibrosis, Obesity OMIM:616629
Ciliary Dyskinesia, Primary, 26
Recurrent otitis media, Recurrent sinusitis, Chronic bronchitis, Rhinitis, Recurrent respiratory ... OMIM:615500
Biemond Syndrome Type 2
Obesity ORPHA:141333
Type 1 Diabetes Mellitus
Autoimmunity, Polyuria OMIM:222100
Holzgreve Syndrome
Abnormal mesentery morphology, Intrauterine growth retardation, Aplasia/Hypoplasia of the lungs ORPHA:2167
Cryoglobulinemic Vasculitis
Abnormality of the liver, Renal insufficiency, Splenomegaly, Hematuria, Proteinuria, Glomerulopat... ORPHA:91138
Primary Sclerosing Cholangitis
Cholestasis, Acute hepatic failure, Hepatosplenomegaly, Abnormal biliary tract morphology, Cirrho... ORPHA:171
Orofaciodigital Syndrome Viii
Recurrent aspiration pneumonia, Hamartoma OMIM:300484
Gaucher Disease, Type I
Pancytopenia, Hypersplenism, Splenomegaly, Anemia, Thrombocytopenia, Hepatomegaly, Multiple myeloma OMIM:230800
Axial Mesodermal Dysplasia Spectrum
Short stature, Abnormality of the spleen, Abnormality of the liver, Aplasia/Hypoplasia of the lungs ORPHA:1834
Ciliary Dyskinesia, Primary, 24
Recurrent otitis media, Bronchiectasis, Recurrent sinusitis, Chronic rhinitis OMIM:615481
Chronic Granulomatous Disease
Abnormality of neutrophils, Eczematoid dermatitis, Otitis media, Splenomegaly, Hepatomegaly, Sinu... ORPHA:379
Oligomeganephronia
Branchial cyst, Pulmonary venous occlusion, Pulmonary hypoplasia ORPHA:2260
Wilson-Turner Syndrome
Truncal obesity ORPHA:3459
Retinoblastoma
Pinealoma, Lymphoma, Ewing sarcoma, Retinoblastoma, Leukemia, Osteosarcoma OMIM:180200
Bile Acid Synthesis Defect, Congenital, 1
Intrahepatic cholestasis, Giant cell hepatitis, Failure to thrive, Splenomegaly, Cirrhosis, Achol... OMIM:607765
Ciliary Dyskinesia, Primary, 17
Recurrent otitis media, Chronic sinusitis, Chronic rhinitis, Recurrent respiratory infections, Br... OMIM:614679
Shwachman-Diamond Syndrome
Aplastic anemia, Pancytopenia, Impaired neutrophil chemotaxis, Acute myeloid leukemia, Neutropeni... ORPHA:811
Alopecia Totalis
Inflammation of the large intestine, Autoimmunity ORPHA:700
Pediatric-Onset Graves Disease
Keratitis, Autoimmunity, Episcleritis, Splenomegaly, Anti-thyroid peroxidase antibody positivity,... ORPHA:525731
Caudal Regression Syndrome
Pulmonary hypoplasia ORPHA:3027
Overhydrated Hereditary Stomatocytosis
Abnormal mean corpuscular volume, Stomatocytosis, Hemolytic anemia, Splenomegaly, Reticulocytosis... ORPHA:3203
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency
Spontaneous hemolytic crises, Cholelithiasis, Pigment gallstones, Cholecystitis, Splenomegaly, No... OMIM:613470
Clark-Baraitser Syndrome
Obesity OMIM:617752
Retinal Dystrophy And Obesity
Obesity OMIM:616188
Congenital Pulmonary Lymphangiectasia
Hepatomegaly, Splenomegaly, Ascites ORPHA:2414
Coenzyme Q10 Deficiency, Primary, 2
Obesity, Overweight OMIM:614651
Meningioma
Neoplasm of the skin, Secondary growth hormone deficiency, Neurofibroma, Increased circulating pr... ORPHA:2495
Erythrocytosis, Familial, 1
Increased circulating hemoglobin concentration, Increased hematocrit, Splenomegaly, Increased red... OMIM:133100
Bardet-Biedl Syndrome 21
Obesity, Overweight OMIM:617406
Cortisone Reductase Deficiency 1
Obesity OMIM:604931
Thanatophoric Dysplasia Type 2
Short stature, Encephalocele, Aplasia/Hypoplasia of the lungs ORPHA:93274
Neurodevelopmental Disorder With Intracranial Hemorrhage, Seizures, And Spasticity
Hydranencephaly, Hepatic sinusoidal dilatation, Atelectasis, Splenic cyst, Pancreatitis, Short st... OMIM:620371
Raine Syndrome
Short stature, Neonatal death, Death in infancy, Pulmonary hypoplasia OMIM:259775
Tafro Syndrome
Ascites, Hepatosplenomegaly, Renal insufficiency, Splenomegaly, Pleural effusion, Leukocytosis, H... ORPHA:457077
Attenuated Familial Adenomatous Polyposis
Thyroid adenoma, Duodenal polyposis, Astrocytoma, Large intestinal polyposis, Papilloma, Fibroma,... ORPHA:220460
Short Fifth Metacarpals-Insulin Resistance Syndrome
Spherocytosis, Splenomegaly ORPHA:66518
Beckwith-Wiedemann Syndrome
Tall stature, Congenital diaphragmatic hernia, Hepatoblastoma, Hepatomegaly, Visceromegaly, Polyc... ORPHA:116
Oligoarticular Juvenile Idiopathic Arthritis
Rheumatoid arthritis, Autoimmunity, Knee osteoarthritis, Antinuclear antibody positivity, Oligoar... ORPHA:85410
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome
Obesity, Umbilical hernia ORPHA:171839
Leptin Deficiency Or Dysfunction
Obesity OMIM:614962
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Rhizomelia, Stillbirth, Encephalocele, Pulmonary hypoplasia OMIM:616300
Cortisone Reductase Deficiency 2
Obesity OMIM:614662
Spherocytosis, Type 4
Splenomegaly, Reticulocytosis, Spherocytosis, Jaundice, Hemolytic anemia OMIM:612653
X-Linked Intellectual Disability-Cubitus Valgus-Dysmorphism Syndrome
Truncal obesity ORPHA:85280
Genitopatellar Syndrome
Short stature, Pulmonary hypoplasia ORPHA:85201
Anemia, Congenital Dyserythropoietic, Type Ia
Macrocytic dyserythropoietic anemia, Erythroid hyperplasia, Reticulocytosis, Anemia of inadequate... OMIM:224120
Mody
Pancreatic hypoplasia, Exocrine pancreatic insufficiency, Elevated hemoglobin A1c, Obesity, Large... ORPHA:552
Livedoid Vasculopathy
Polycythemia, Systemic lupus erythematosus, Pancytopenia, Autoimmunity, Leukocytosis, Superficial... ORPHA:542643
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia
Recurrent respiratory infections, Intraalveolar phospholipid accumulation, Splenomegaly, Leukocyt... OMIM:618042
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome
Cholestatic liver disease, Inflammation of the large intestine, Granuloma, Cholestasis, Interface... ORPHA:562639
Caudal Duplication
Myelomeningocele, Spina bifida ORPHA:1756
Budd-Chiari Syndrome
Ascites, Portal hypertension, Splenomegaly, Cholecystitis, Peritonitis, Cirrhosis, Weight loss, H... ORPHA:131
Baralle-Macken Syndrome
Obesity OMIM:619255
Primary Ciliary Dyskinesia
Atelectasis, Polysplenia, Recurrent otitis media, Pulmonary situs ambiguus, Respiratory tract inf... ORPHA:244
Cryohydrocytosis
Stomatocytosis, Hemolytic anemia, Splenomegaly, Reticulocytosis OMIM:185020
Mosaic Trisomy 16
Abnormal lung morphology, Intrauterine growth retardation, Large placenta, Pulmonary hypoplasia ORPHA:1708
Bronchiectasis With Or Without Elevated Sweat Chloride 1
Abnormality of exocrine pancreas physiology, Bronchiectasis, Chronic bronchitis OMIM:211400
Mitochondrial Complex I Deficiency, Nuclear Type 33
Hypospadias, Bronchiectasis, Neutropenia, Aspiration pneumonia OMIM:618253
Familial Hemophagocytic Lymphohistiocytosis
Cholestatic liver disease, Elevated circulating hepatic transaminase concentration, Hemophagocyto... ORPHA:540
Anemia, Congenital Dyserythropoietic, Type Iv
Increased RBC distribution width, Persistence of hemoglobin F, Hepatosplenomegaly, Reduced hemato... OMIM:613673
Congenital Myopathy 22B, Severe Fetal
Hepatomegaly, Pleural effusion, Pulmonary hypoplasia OMIM:620369
Drug-Induced Autoimmune Hemolytic Anemia
Autoimmune hemolytic anemia, Splenomegaly, Abnormal urinary color ORPHA:90037
Bardet-Biedl Syndrome 2
Obesity OMIM:615981
Joubert Syndrome 21
Splenomegaly, Occipital encephalocele, Encephalocele, Pulmonary hypoplasia OMIM:615636
Stuve-Wiedemann Syndrome 1
Intrauterine growth retardation, Death in infancy, Pulmonary arterial medial hypertrophy, Short s... OMIM:601559
Schaaf-Yang Syndrome
Failure to thrive in infancy, Obesity, Camptodactyly, Flexion contracture, Arthrogryposis multipl... OMIM:615547
Ciliary Dyskinesia, Primary, 29
Recurrent respiratory infections, Bronchiectasis, Atelectasis OMIM:615872
Ciliary Dyskinesia, Primary, 12
Chronic otitis media, Chronic sinusitis, Chronic rhinitis, Recurrent respiratory infections, Bron... OMIM:612650
Immunodeficiency 77
Recurrent tonsillitis, Bronchiectasis, Cutaneous abscess OMIM:619223
Ciliary Dyskinesia, Primary, 32
Recurrent otitis media, Chronic sinusitis, Chronic rhinitis, Recurrent respiratory infections, Br... OMIM:616481
Vacterl With Hydrocephalus
Intrauterine growth retardation, Spina bifida, Pulmonary hypoplasia ORPHA:3412
Spherocytosis, Type 1
Cholelithiasis, Splenomegaly, Reticulocytosis, Spherocytosis, Jaundice, Hemolytic anemia OMIM:182900
Carpenter Syndrome 1
Joint contracture of the hand, Polysplenia, Umbilical hernia, Obesity, Omphalocele, Camptodactyly OMIM:201000
Ciliary Dyskinesia, Primary, 5
Recurrent pneumonia, Recurrent otitis media, Recurrent sinusitis, Chronic bronchitis, Chronic rhi... OMIM:608647
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Recurrent aspiration pneumonia ORPHA:2590
Immunodeficiency 43
Reduced natural killer cell count, Lung abscess, B lymphocytopenia, Recurrent respiratory infecti... OMIM:241600
Neu-Laxova Syndrome
Intrauterine growth retardation, Spina bifida, Pulmonary hypoplasia ORPHA:2671
Mendelian Susceptibility To Mycobacterial Diseases Due To Complete Il12Rb1 Deficiency
Pneumonia, Salmonella osteomyelitis, Lymphadenitis ORPHA:319552
Bronchogenic Cyst
Pneumonia, Pulmonary cyst, Bronchogenic cyst, Atelectasis, Abnormal pleura morphology, Abnormal p... ORPHA:2357
Pemphigus Vulgaris
Autoimmunity, Anti-desmoglein-3 antibody positivity, Recurrent cutaneous abscess formation, Anti-... ORPHA:704
Milroy Disease
Cellulitis, Neoplasm of the skin, Angiosarcoma ORPHA:79452
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Cholelithiasis, Increased mean corpuscular hemoglobin concentration, Hepatitis, Splenomegaly, Ret... OMIM:194380
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome
Emphysema, Respiratory tract infection, Chronic bronchitis, Honeycomb lung, Hypersensitivity pneu... ORPHA:79127
Transaldolase Deficiency
Hepatic fibrosis, Micronodular cirrhosis, Failure to thrive, Hepatosplenomegaly, Pancytopenia, Sp... OMIM:606003
Joubert Syndrome 37
Hepatomegaly, Obesity OMIM:619185
Osteopetrosis, Autosomal Recessive 4
Splenomegaly, Reticulocytosis, Anemia, Thrombocytopenia, Hepatomegaly OMIM:611490
Thoracoabdominal Syndrome
Anencephaly, Pulmonary hypoplasia OMIM:313850
Ciliary Dyskinesia, Primary, 16
Bronchiectasis, Chronic otitis media, Chronic sinusitis, Chronic rhinitis OMIM:614017
Sclerosing Cholangitis, Neonatal
Hepatic bridging fibrosis, Portal fibrosis, Biliary cirrhosis, Cholestasis, Ascites, Portal hyper... OMIM:617394
Spherocytosis, Type 2
Acanthocytosis, Splenomegaly, Reticulocytosis, Spherocytosis, Jaundice, Hemolytic anemia OMIM:616649
Hypogonadism-Mitral Valve Prolapse-Intellectual Disability Syndrome
Obesity ORPHA:2233
Peripheral Neuropathy, Autosomal Recessive, With Or Without Impaired Intellectual Development
Obesity OMIM:618124
Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome
Truncal obesity, Camptodactyly of finger ORPHA:2928
Familial Nasal Acilia
Recurrent upper respiratory tract infections, Atelectasis, Chronic sinusitis, Chronic rhinitis, B... ORPHA:922
Pparg-Related Familial Partial Lipodystrophy
Loss of facial adipose tissue, Hepatic steatosis, Splenomegaly, Cirrhosis, Pancreatitis, Loss of ... ORPHA:79083
Alopecia Universalis
Atopic dermatitis, Psoriasiform dermatitis, Autoimmunity ORPHA:701
Obesity Due To Sim1 Deficiency
Obesity ORPHA:369873
Ciliary Dyskinesia, Primary, 34
Bronchiectasis, Recurrent bronchitis, Recurrent sinusitis, Chronic rhinitis OMIM:617091
Ciliary Dyskinesia, Primary, 43
Recurrent upper respiratory tract infections, Abdominal situs inversus, Chronic sinusitis, Chroni... OMIM:618699
Hemochromatosis, Type 1
Ascites, Splenomegaly, Cardiomegaly, Cirrhosis, Hepatomegaly, Hepatocellular carcinoma OMIM:235200
Bile Acid Synthesis Defect, Congenital, 3
Hepatic bridging fibrosis, Intrahepatic cholestasis, Hepatitis, Failure to thrive, Splenomegaly, ... OMIM:613812
Pseudopseudohypoparathyroidism
Obesity, Enamel hypoplasia OMIM:612463
Mucopolysaccharidosis, Type Iiia
Hepatomegaly, Splenomegaly, Inguinal hernia, Umbilical hernia OMIM:252900
Prader-Willi Syndrome Due To Imprinting Mutation
Obesity ORPHA:177910
Scrub Typhus
Renal insufficiency, Skin rash, Splenomegaly, Infectious encephalitis, Lymphadenopathy, Myocardit... ORPHA:83317
Hydrocephalus-Obesity-Hypogonadism Syndrome
Obesity ORPHA:2183
Bardet-Biedl Syndrome 8
Obesity OMIM:615985
Trisomy X
Precocious puberty, Multicystic kidney dysplasia, Autoimmunity, Renal hypoplasia/aplasia ORPHA:3375
Nijmegen Breakage Syndrome
Recurrent pneumonia, Glioma, Lymphoma, Recurrent urinary tract infections, Recurrent otitis media... OMIM:251260
Wildervanck Syndrome
Meningocele ORPHA:3456
Truncus Arteriosus
Pulmonary artery hypoplasia, Abnormal lung lobation, Intrauterine growth retardation, Anomalous o... ORPHA:3384
Granulomatosis With Polyangiitis
Hematuria, Prostatitis, Inflammatory abnormality of the eye, Chronic otitis media, Ureteral steno... ORPHA:900
15Q24 Microdeletion Syndrome
Failure to thrive, Obesity, Congenital diaphragmatic hernia, Hernia, Small for gestational age ORPHA:94065
Intellectual Developmental Disorder, Autosomal Dominant 39
Obesity OMIM:616521
Granulomatous Disease, Chronic, Autosomal Recessive, 1
Discoid lupus rash, Recurrent pneumonia, Lymphadenitis, Eczematoid dermatitis, Osteomyelitis, Imp... OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2
Discoid lupus rash, Recurrent pneumonia, Lymphadenitis, Eczematoid dermatitis, Osteomyelitis, Imp... OMIM:233710
Listeriosis
Arteritis, Abscess, Pustule, Jaundice, Endocarditis, Acute kidney injury, Osteomyelitis, Peritoni... ORPHA:533
Immunodeficiency With Hyper-Igm, Type 1
Hepatitis, Absence of lymph node germinal center, Hemolytic anemia, Enteroviral encephalitis, Scl... OMIM:308230
Muscle-Eye-Brain Disease
Meningocele, Holoprosencephaly, Hydrocephalus ORPHA:588
Immunodeficiency 56
Recurrent pneumonia, Recurrent otitis media, Recurrent sinusitis, Chronic hepatitis due to crypto... OMIM:615207
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Cholelithiasis, Severe B lymphocytopenia, Pancreatic hypoplasia, Postnatal growth retardation, In... ORPHA:83617
Acute Lung Injury
Pneumonia, Abnormal pulmonary interstitial morphology, Diffuse alveolar hemorrhage, Acute pancrea... ORPHA:178320
Humero-Radial Synostosis
Meningocele ORPHA:3265
Microtriplication 11Q24.1
Obesity ORPHA:289522
Intellectual Developmental Disorder, X-Linked, Syndromic, Shashi Type
Obesity OMIM:300238
Intellectual Developmental Disorder With Dysmorphic Facies And Behavioral Abnormalities
Tall stature, Obesity OMIM:618089
Meckel Syndrome, Type 1
Malformation of the hepatic ductal plate, Accessory spleen, Occipital encephalocele, Intrauterine... OMIM:249000
Congenital Tracheomalacia
Pneumonia, Abnormal pulmonary artery morphology, Recurrent upper respiratory tract infections, Em... ORPHA:95430
Sotos Syndrome
Small cell lung carcinoma, Cryptorchidism, Abnormality of the kidney, Acute lymphoblastic leukemi... ORPHA:821
Multiple Endocrine Neoplasia Type 4
Pituitary prolactin cell adenoma, Pituitary null cell adenoma, Renal angiomyolipoma, Parathyroid ... ORPHA:276152
Congenital Myopathy 17
Respiratory tract infection, Pulmonary hypoplasia OMIM:618975
Basal Cell Nevus Syndrome 2
Neurofibroma, Meningioma, Medulloblastoma, Angiofibromas, Basal cell carcinoma OMIM:620343
Intellectual Disability-Obesity-Prognathism-Eye And Skin Anomalies Syndrome
Obesity ORPHA:397973
Spastic Paraplegia 11, Autosomal Recessive
Obesity OMIM:604360
Fryns Microphthalmia Syndrome
Neural tube defect OMIM:600776
Ciliary Dyskinesia, Primary, 15
Recurrent pneumonia, Recurrent otitis media, Chronic sinusitis, Chronic bronchitis, Recurrent res... OMIM:613808
Immunodeficiency 58
Allergic rhinitis, Recurrent pneumonia, Recurrent upper respiratory tract infections, Verrucae, C... OMIM:618131
Thoraco-Abdominal Enteric Duplication
Meningocele ORPHA:1759
Elliptocytosis 1
Jaundice, Hemolytic anemia, Splenomegaly, Elliptocytosis OMIM:611804
Poems Syndrome
Visceromegaly, Polycythemia, Ascites, Splenomegaly, Hemangioma, Lipodystrophy, Weight loss, Lymph... ORPHA:2905
Iga Pemphigus
Cutaneous abscess, Neutrophilic infiltration of the skin, Pustule, Eosinophilia, Autoimmune antib... ORPHA:555905
Ciliary Dyskinesia, Primary, 7
Recurrent otitis media, Recurrent pneumonia, Bronchiectasis, Chronic rhinitis OMIM:611884
Infant Acute Respiratory Distress Syndrome
Pneumonia, Pulmonary edema, Respiratory tract infection, Atelectasis ORPHA:70587
Aicardi-Goutieres Syndrome 7
Pneumonia, Atrophic gastritis, Atopic dermatitis, Hepatitis, Pancytopenia, Chilblains, Skin rash,... OMIM:615846
Hyper-Igd Syndrome
Neutrophilia, Lymphadenitis, Hepatosplenomegaly, Leukocytosis, Skin rash, Splenomegaly, Elevated ... OMIM:260920
Parathyroid Carcinoma
Chondrocalcinosis, Renal hamartoma, Parathyroid carcinoma, Pancreatic adenocarcinoma, Thyroid car... ORPHA:143
Intellectual Developmental Disorder, Autosomal Dominant 72
Tall stature, Obesity OMIM:620439
Granulomatous Disease, Chronic, Autosomal Recessive, 4
Discoid lupus rash, Recurrent pneumonia, Lymphadenitis, Eczematoid dermatitis, Osteomyelitis, Imp... OMIM:233690
Alg9-Cdg
Periportal fibrosis, Rhizomelia, Abnormal lung lobation, Hepatic cysts, Hepatomegaly, Pulmonary h... ORPHA:79328
Autoimmune Hypoparathyroidism
Calcium nephrolithiasis, Chronic mucocutaneous candidiasis, Autoimmunity, Conjunctivitis, Autoimm... ORPHA:36913
De Sanctis-Cacchione Syndrome
Defective DNA repair after ultraviolet radiation damage, Melanoma, Bilateral cryptorchidism OMIM:278800
Rhizomelic Limb Shortening With Dysmorphic Features
Obesity OMIM:618821
14Q11.2 Microduplication Syndrome
Obesity ORPHA:261229
Caroli Disease
Intrahepatic cholestasis, Cholelithiasis, Hepatic fibrosis, Biliary cirrhosis, Cholestasis, Ascit... ORPHA:53035
Zygomycosis
Pustule, Hematological neoplasm, Acute infectious pneumonia, Neutropenia, Endocarditis, Renal ins... ORPHA:73263
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Neonatal death, Absent gallbladder, Pulmonary hypoplasia OMIM:617925
Temple Syndrome
Obesity, Small for gestational age ORPHA:254516
Ogden Syndrome
Peripheral pulmonary artery stenosis, Polycythemia, Umbilical hernia, Postnatal growth retardatio... OMIM:300855
Temple Syndrome Due To Paternal 14Q32.2 Microdeletion
Obesity ORPHA:254525
Familial Mediterranean Fever
Renal amyloidosis, Erysipelas, Stage 5 chronic kidney disease, Pleural effusion, Splenomegaly, Le... OMIM:249100
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis
Osteomyelitis, Skin rash, Splenomegaly, Abscess, Pustule, Neutrophilia, Hepatomegaly, Pulmonary f... OMIM:612852
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome
Obesity ORPHA:464282
Acquired Generalized Lipodystrophy
Lymphoma, Autoimmunity, Hepatic steatosis, Polycystic ovaries, Proteinuria, Astrocytoma, Cirrhosi... ORPHA:79086
Granulomatous Disease, Chronic, X-Linked
Discoid lupus rash, Recurrent pneumonia, Lymphadenitis, Eczematoid dermatitis, Atelectasis, Granu... OMIM:306400
Ciliary Dyskinesia, Primary, 19
Recurrent otitis media, Recurrent sinusitis, Chronic bronchitis, Rhinitis, Recurrent respiratory ... OMIM:614935
Atelosteogenesis Type Ii
Rhizomelic arm shortening, Rhizomelia, Pulmonary hypoplasia ORPHA:56304
Kikuchi-Fujimoto Disease
Abnormal lymph node morphology, Cervical lymphadenopathy, Leukopenia, Malar rash, Pleural effusio... ORPHA:50918
Glycogen Storage Disease Ixc
Splenomegaly, Increased hepatic glycogen content, Cirrhosis, Hepatomegaly, Bile duct proliferation OMIM:613027
Kaposiform Lymphangiomatosis
Hepatosplenomegaly, Pleural effusion, Splenomegaly, Lymphangioma, Abnormality of the lymphatic sy... ORPHA:464329
Adams-Oliver Syndrome 6
Hepatic fibrosis, Portal hypertension, Splenomegaly OMIM:616589
Joubert Syndrome 10
Obesity, Decreased body weight OMIM:300804
Proteus-Like Syndrome
Thymus hyperplasia, Subcutaneous lipoma, Splenomegaly, Hemangioma, Exostoses, Shagreen patch ORPHA:2969
Cowden Syndrome
Neoplasm of the skin, Follicular thyroid carcinoma, Failure to thrive, Meningioma, Neoplasm of th... ORPHA:201
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Obesity ORPHA:411515
Polycythemia Vera
Acute leukemia, Polycythemia, Leukocytosis, Portal hypertension, Splenomegaly, Portal vein thromb... ORPHA:729
Combined Oxidative Phosphorylation Deficiency 54
Obesity OMIM:619737
Camptodactyly Syndrome, Guadalajara Type 1
Short stature, Intrauterine growth retardation, Spina bifida ORPHA:1327
Acropectorovertebral Dysplasia
Spina bifida ORPHA:957
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency
Acute hepatic steatosis, Hepatitis, Cholestasis, Obesity, Hepatic steatosis, Cholesterol gallston... ORPHA:209902
Pemphigus Foliaceus
Neoplasm of the skin, Psoriasiform dermatitis, Autoimmunity, Crusting erythematous dermatitis, Pu... ORPHA:79481
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome
Recurrent upper respiratory tract infections, Recurrent pneumonia, Recurrent otitis media, Abnorm... ORPHA:293978
Cartilage-Hair Hypoplasia
Abnormality of chromosome stability, Anemia, Mucopolysacchariduria, Neutropenia, Hepatomegaly, Ab... ORPHA:175
Bronchial Neuroendocrine Tumor
Pneumonia, Hepatic failure, Chronic noninfectious lymphadenopathy, Hepatomegaly, Abnormal pulmona... ORPHA:97287
6Q16 Microdeletion Syndrome
Obesity ORPHA:171829
Wagr Syndrome
Obesity ORPHA:893
Clark-Baraitser syndrome
Tall stature, Obesity OMIM:300602
Overhydrated Hereditary Stomatocytosis
Stomatocytosis, Increased mean corpuscular volume, Splenomegaly, Reticulocytosis, Hepatomegaly, P... OMIM:185000
Interstitial Cystitis
Functional abnormality of the bladder, Abnormality of the urethra, Urinary bladder inflammation, ... ORPHA:37202
Diamond-Blackfan Anemia 21
Obesity, Erythroid hypoplasia, Thrombocytopenia, Anemia, Osteosarcoma OMIM:620072
Hereditary Bullous Dystrophy, Macular Type
Pneumonia, Decreased testicular size, External genital hypoplasia, Cryptorchidism ORPHA:1867
Reynolds Syndrome
Biliary cirrhosis, Anti-centromere antibody positivity, Cholestasis, Lymphopenia, Splenomegaly, A... OMIM:613471
Ataxia-Oculomotor Apraxia Type 4
Obesity ORPHA:459033
Fryns Syndrome
Chylothorax, Polysplenia, Stillbirth, Ectopic pancreatic tissue, Pulmonary hypoplasia OMIM:229850
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
Elbow flexion contracture, Obesity, Decreased cervical spine flexion due to contractures of poste... ORPHA:98855
Short-Rib Thoracic Dysplasia 14 With Polydactyly
Anencephaly, Occipital meningocele, Pulmonary hypoplasia OMIM:616546
Diffuse Cutaneous Systemic Sclerosis
Oliguria, Autoimmunity, Renal insufficiency, Arthritis, Pulmonary fibrosis ORPHA:220393
Hermansky-Pudlak Syndrome 2
Recurrent pneumonia, Reduced natural killer cell count, Periodontitis, Enlarged platelet dense gr... OMIM:608233
Lethal Congenital Contracture Syndrome 9
Intrauterine growth retardation, Short umbilical cord, Pulmonary hypoplasia OMIM:616503
Chops Syndrome
Aspiration pneumonia, Horseshoe kidney, Vesicoureteral reflux, Splenomegaly, Cryptorchidism, Pate... OMIM:616368
Pseudopseudohypoparathyroidism
Obesity ORPHA:79445
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly
Obesity OMIM:615633
Glycogen Storage Disease Ib
Focal segmental glomerulosclerosis, Inflammation of the large intestine, Elevated circulating hep... OMIM:232220
Agammaglobulinemia 1, Autosomal Recessive
Recurrent pneumonia, Rectal abscess, Recurrent otitis media, Recurrent sinusitis, Neutropenia, B ... OMIM:601495
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Impaired Intellectual Development Syndrome
Gonadoblastoma, Obesity, Nephroblastoma OMIM:194072
Smith-Lemli-Opitz Syndrome
Cholestatic liver disease, Abnormal lung lobation, Intrauterine growth retardation, Hepatic steat... OMIM:270400
Atkin-Flaitz Syndrome
Obesity ORPHA:1193
Otopalatodigital Syndrome Type 2
Myelomeningocele, Encephalocele, Pulmonary hypoplasia ORPHA:90652
Vacterl/Vater Association
Occipital encephalocele, Abnormality of the gallbladder, Intrauterine growth retardation, Aplasia... ORPHA:887
Roifman-Chitayat Syndrome
Pneumonia, Ectopic kidney, Arthritis OMIM:613328
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Hepatic fibrosis, Pancreatic fibrosis, Pulmonary hypoplasia OMIM:263520
Mitochondrial Dna Depletion Syndrome 12B (Cardiomyopathic Type), Autosomal Recessive
Obesity, Left ventricular hypertrophy, Achilles tendon contracture OMIM:615418
Sickle Cell Disease
Splenic infarction, Cholelithiasis, Increased red cell sickling tendency, Renal insufficiency, Sp... OMIM:603903
13Q12.3 Microdeletion Syndrome
Camptodactyly, Obesity, Congenital diaphragmatic hernia, Failure to thrive ORPHA:412035
Gm1 Gangliosidosis
Aspiration pneumonia, Hepatosplenomegaly, Abnormal scrotum morphology, Splenomegaly, Infectious e... ORPHA:354
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation
Obesity ORPHA:254531
Meier-Gorlin Syndrome 7
Short stature, Meconium peritonitis, Growth delay, Pulmonary hypoplasia OMIM:617063
Urban-Rogers-Meyer Syndrome
Obesity, Camptodactyly of finger, Flexion contracture of toe ORPHA:3409
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome
Postnatal growth retardation, Repeated pneumothoraces, Atelectasis, Pulmonary hypoplasia ORPHA:536467
Bardet-Biedl Syndrome 9
Obesity, Truncal obesity OMIM:615986
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea
Abnormal pulmonary interstitial morphology, Atelectasis, Hilar lymph node enlargement, Recurrent ... OMIM:620233
Ataxia-Telangiectasia
Female hypogonadism, Lymphoma, Lymphopenia, Decreased proportion of CD4-positive helper T cells, ... OMIM:208900
Primary Biliary Cholangitis
Hepatic fibrosis, Hepatic failure, Biliary cirrhosis, Hepatitis, Ascites, Autoimmunity, Portal hy... ORPHA:186
Joubert Syndrome 8
Prolonged neonatal jaundice, Hepatomegaly, Obesity OMIM:612291
Rasmussen Subacute Encephalitis
Anti-dsDNA antibody positivity, Autoimmunity, Antinuclear antibody positivity ORPHA:1929
Myasthenia, Limb-Girdle, Autoimmune
Hashimoto thyroiditis, Thymoma, Neoplasm, Systemic lupus erythematosus OMIM:159400
Bardet-Biedl Syndrome 3
Obesity OMIM:600151
Neurodevelopmental Disorder With Hypotonia, Impaired Speech, And Behavioral Abnormalities
Obesity OMIM:619854
Down Syndrome
Polycythemia, Umbilical hernia, Obesity, Acute megakaryocytic leukemia, Abnormality of the lympha... ORPHA:870
Mucoepithelial Dysplasia, Hereditary
Pneumonia, Recurrent pneumonia, Chronic mucocutaneous candidiasis, Hematuria, Keratoconjunctiviti... OMIM:158310
Fryns Syndrome
Pulmonary hypoplasia ORPHA:2059
Prolactin Deficiency With Obesity And Enlarged Testes
Obesity OMIM:264120
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease
Pituitary adenoma, Neuroendocrine neoplasm, Meningioma, Dorsocervical fat pad, Hepatic steatosis,... ORPHA:189427
Immunodeficiency 12
Recurrent aphthous stomatitis, Skin rash, Abnormal lymphocyte count, Recurrent lower respiratory ... OMIM:615468
19P13.12 Microdeletion Syndrome
Obesity, Arthrogryposis multiplex congenita, Hepatic steatosis ORPHA:254346
Dehydrated Hereditary Stomatocytosis
Cholelithiasis, Increased mean corpuscular volume, Polycythemia, Increased mean corpuscular hemog... ORPHA:3202
Fetal Cytomegalovirus Syndrome
Hepatitis, Splenomegaly, Hepatomegaly, Thrombocytopenia, Anemia, Jaundice ORPHA:294
Hyperparathyroidism-Jaw Tumor Syndrome
Chondrocalcinosis, Renal hamartoma, Pancreatic adenocarcinoma, Thyroid carcinoma, Nephroblastoma,... ORPHA:99880
X-Linked Emery-Dreifuss Muscular Dystrophy
Elbow flexion contracture, Obesity, Decreased cervical spine flexion due to contractures of poste... ORPHA:98863
Renal Agenesis
Pulmonary hypoplasia ORPHA:411709
Emery-Dreifuss Muscular Dystrophy
Elbow flexion contracture, Obesity, Decreased cervical spine flexion due to contractures of poste... ORPHA:261
Trichothiodystrophy
Defective DNA repair after ultraviolet radiation damage, Umbilical hernia ORPHA:33364
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2
Peritonitis, Pulmonary hypoplasia OMIM:619351
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
Elbow flexion contracture, Obesity, Decreased cervical spine flexion due to contractures of poste... ORPHA:98853
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1
Pulmonary hypoplasia OMIM:614080
Tetraamelia Syndrome 1
Asplenia, Peripheral pulmonary vessel aplasia, Pulmonary hypoplasia OMIM:273395
Intellectual Developmental Disorder, X-Linked, Syndromic 13
Wrist flexion contracture, Flexion contracture, Obesity OMIM:300055
Oculopharyngodistal Myopathy
Recurrent aspiration pneumonia ORPHA:98897
Retinitis Pigmentosa 51
Obesity OMIM:613464
X-Linked Intellectual Disability, Hedera Type
Obesity, Left ventricular hypertrophy ORPHA:93952
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 3
Pneumonia OMIM:608033
Intellectual Disability-Balding-Patella Luxation-Acromicria Syndrome
Flexion contracture of digit, Reduced subcutaneous adipose tissue, Truncal obesity ORPHA:3041
Multiple Pterygium Syndrome, Escobar Variant
Short stature, Umbilical hernia, Pulmonary hypoplasia OMIM:265000
Adult Acute Respiratory Distress Syndrome
Pneumonia, Pulmonary edema, Pancreatitis ORPHA:70578
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta
Anomalous origin of right pulmonary artery from ascending aorta, Anomalous origin of left pulmona... ORPHA:99050
Narcolepsy Type 1
Obesity ORPHA:2073
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Increased adipose tissue around the neck, Increased facial adipose tissue, Increased intraabdomin... ORPHA:280365
Progressive Encephalopathy With Leukodystrophy Due To Decr Deficiency
Pancreatitis, Renal tubular acidosis, Organic aciduria, Aspiration pneumonia ORPHA:431361
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5
Pneumonia, Right ventricular hypertrophy OMIM:253700
Cardiac-Urogenital Syndrome
Accessory spleen, Scimitar anomaly, Hepatopulmonary fusion, Partial anomalous pulmonary venous re... OMIM:618280
Xfe Progeroid Syndrome
Defective DNA repair after ultraviolet radiation damage OMIM:610965
Fetal Akinesia Deformation Sequence 1
Small placenta, Intrauterine growth retardation, Short umbilical cord, Stillbirth, Pulmonary hypo... OMIM:208150
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Hepatic fibrosis, Portal fibrosis, Failure to thrive, Cholestasis, Hepatic steatosis, Splenomegal... ORPHA:264580
Idiopathic Intracranial Hypertension
Obesity ORPHA:238624
Congenital Multicore Myopathy With External Ophthalmoplegia
Pneumonia, Small scrotum, Cryptorchidism, Micropenis, Recurrent respiratory infections ORPHA:98905
Intellectual Developmental Disorder, Autosomal Recessive 13
Truncal obesity OMIM:613192
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14
Obesity, Small for gestational age, Truncal obesity ORPHA:96184
Severe Generalized Junctional Epidermolysis Bullosa
Multicystic kidney dysplasia, Ureterocele, Urethral stricture, Duplicated collecting system, Recu... ORPHA:79404
Osteogenesis Imperfecta, Type Xxiii
Truncal obesity OMIM:620639
Smith-Lemli-Opitz Syndrome
Rhizomelia, Abnormal lung lobation, Intrauterine growth retardation, Abnormality of the gallbladd... ORPHA:818
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair
Cholestasis, Obesity OMIM:609734
Ciliary Dyskinesia, Primary, 22
Recurrent respiratory infections, Recurrent otitis media, Chronic bronchitis, Recurrent sinusitis... OMIM:615444
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Leukocytosis, Reticulocytosis, Splenomegaly, Anisocytosis, Heinz bodies, Fava bean-induced hemoly... OMIM:300908
Oculoauriculovertebral Spectrum With Radial Defects
Short stature, Aplasia/Hypoplasia of the lungs ORPHA:2549
Cornelia De Lange Syndrome 5
Truncal obesity OMIM:300882
Carney Complex
Follicular thyroid carcinoma, Tall stature, Increased body weight, Neoplasm of the pharynx, Ovari... ORPHA:1359
Dpagt1-Cdg
Hepatomegaly, Anemia, Elevated circulating hepatic transaminase concentration, Pulmonary hypoplasia ORPHA:86309
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis
Hepatic fibrosis, Cholestasis, Portal hypertension, Splenomegaly, Sclerosing cholangitis, Intrahe... OMIM:607626
Splenogonadal Fusion-Limb Defects-Micrognathia Syndrome
Aplasia/Hypoplasia of the lungs, Abnormal lung lobation ORPHA:2063
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome
Abnormal dental enamel morphology, Obesity ORPHA:2180
H Syndrome
Microcytic anemia, Decreased testicular size, Hepatosplenomegaly, Psoriasiform dermatitis, Azoosp... ORPHA:168569
Ciliary Dyskinesia, Primary, 30
Recurrent otitis media, Chronic sinusitis, Chronic bronchitis, Recurrent respiratory infections, ... OMIM:616037
Syndromic Diarrhea
Hepatic fibrosis, Peripheral pulmonary artery stenosis, Renal hypoplasia, Lymphopenia, Abnormalit... ORPHA:84064
Verloove Vanhorick-Brubakk Syndrome
Aplasia/Hypoplasia of the lungs ORPHA:3429
Isolated Osteopoikilosis
Discoid lupus rash, Autoimmunity, Abnormality of the kidney ORPHA:166119
Absence Of The Pulmonary Artery
Recurrent pneumonia, Pulmonary edema, Recurrent respiratory infections, Growth delay, Bronchiecta... ORPHA:980
Laurence-Moon Syndrome
Obesity OMIM:245800
Short Stature-Brachydactyly-Obesity-Global Developmental Delay Syndrome
Obesity ORPHA:464288
Diaphragmatic Hernia 4, With Cardiovascular Defects
Hepatomegaly, Pulmonary artery hypoplasia, Aortopulmonary window, Pulmonary hypoplasia OMIM:620025
Blomstrand Lethal Chondrodysplasia
Rhizomelia, Neonatal short-limb short stature, Pulmonary hypoplasia ORPHA:50945
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Hepatic fibrosis, Inflammation of the large intestine, Elevated circulating hepatic transaminase ... OMIM:615895
Infantile Liver Failure Syndrome 3
Hepatic bridging fibrosis, Cholestasis, Hepatic steatosis, Splenomegaly, Hepatomegaly, Jaundice OMIM:618641
Xp22.13P22.2 Duplication Syndrome
Congenital diaphragmatic hernia, Truncal obesity, Umbilical hernia ORPHA:284180
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Obesity ORPHA:3077
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome
Obesity, Eunuchoid habitus ORPHA:2234
Neu-Laxova Syndrome 1
Hydranencephaly, Small placenta, Intrauterine growth retardation, Short umbilical cord, Neonatal ... OMIM:256520
Esophageal Atresia
Recurrent respiratory infections, Growth delay, Bronchitis, Pulmonary hypoplasia ORPHA:1199
Lynch Syndrome 5
Hereditary nonpolyposis colorectal carcinoma, Endometrial carcinoma, Neoplasm of the pancreas, Ov... OMIM:614350
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Spinal dysraphism, Postnatal growth retardation, Intrauterine growth retardation, Large placenta,... ORPHA:96334
Isolated Klippel-Feil Syndrome
Spina bifida ORPHA:2345
Cleft Velum
Recurrent otitis media, Aspiration pneumonia ORPHA:99772
2Q37 Microdeletion Syndrome
Obesity, Congenital diaphragmatic hernia, Nephroblastoma, Umbilical hernia ORPHA:1001
X-Linked Intellectual Disability, Stevenson Type
Tall stature, Obesity ORPHA:85325
Restrictive Dermopathy 1
Intrauterine growth retardation, Hydropic placenta, Short umbilical cord, Neonatal death, Stillbi... OMIM:275210
Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities
Tall stature, Obesity OMIM:618430
Prune Belly Syndrome
Recurrent respiratory infections, Aplasia/Hypoplasia of the lungs ORPHA:2970
Liver Disease, Severe Congenital
Portal inflammation, Recurrent otitis media, Hepatic steatosis, Pulmonary edema, Abnormal hepatic... OMIM:619991
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism
Hepatic fibrosis, Hepatitis, Pancreatic hypoplasia, Cholestasis, Portal hypertension, Splenic cys... OMIM:610199
Scheie Syndrome
Hepatomegaly, Rhinitis, Mucopolysacchariduria, Splenomegaly ORPHA:93474
Meacham Syndrome
Abnormal lung lobation, Abnormality of the spleen, Aplasia/Hypoplasia of the lungs, Pulmonary seq... ORPHA:3097
Orofaciodigital Syndrome Type 4
Severe short stature, Intrauterine growth retardation, Bilateral lung agenesis, Recurrent respira... ORPHA:2753
Combined Immunodeficiency-Enteropathy Spectrum
Peritoneal abscess, Congenital pulmonary airway malformation, Hepatitis, Psoriasiform dermatitis,... ORPHA:436252
Infection-Related Hemolytic Uremic Syndrome
Pneumonia, Acute kidney injury, Oliguria, Septic arthritis, Anuria, Brain abscess, Hemolytic anem... ORPHA:544482
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency
Pneumonia, Abnormal female external genitalia morphology, Endometrial carcinoma, Male pseudoherma... ORPHA:90790
Adiposis Dolorosa
Recurrent skin infections, Autoimmunity, Arthritis ORPHA:36397
Diaphyseal Medullary Stenosis With Malignant Fibrous Histiocytoma
Fibrosarcoma, Osteosarcoma, Histiocytoma OMIM:112250
Familial Mediterranean Fever
Nephropathy, Nephrocalcinosis, Erysipelas, Ascites, Acute hepatic failure, Leukocytosis, Skin ras... ORPHA:342
Intellectual Developmental Disorder, X-Linked 12
Small for gestational age, Truncal obesity, Increased body mass index OMIM:300957
Nocardiosis
Pneumonia, Lymphadenitis, Cutaneous abscess, Keratitis, Liver abscess, Emphysema, Osteomyelitis, ... ORPHA:31204
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis
Micronodular cirrhosis, Ascites, Splenomegaly, Thrombocytopenia, Truncal obesity, Hepatomegaly, L... OMIM:301072
Gaucher Disease, Type Ii
Bronchiolitis, Splenomegaly, Hepatomegaly, Thrombocytopenia, Anemia, Recurrent aspiration pneumonia OMIM:230900
Fontaine Progeroid Syndrome
Umbilical hernia, Intrauterine growth retardation, Death in infancy, Neonatal death, Pneumothorax... OMIM:612289
Radio-Tartaglia Syndrome
Hemangioma, Obesity OMIM:619312
Pituitary Hormone Deficiency, Combined Or Isolated, 7
Truncal obesity, Abdominal obesity OMIM:618160
Acrorenal-Mandibular Syndrome
Intrauterine growth retardation, Pulmonary hypoplasia OMIM:200980
Triploidy
Intrauterine growth retardation, Holoprosencephaly, Hydrocephalus, Meningocele ORPHA:3376
Distal Deletion 15Q
Postnatal growth retardation, Intrauterine growth retardation, Short stature, Growth delay, Pulmo... ORPHA:1596
Mitochondrial Complex Ii Deficiency, Nuclear Type 3
Ketonuria, Aspiration pneumonia, Left ventricular hypertrophy, Lacticaciduria, Hepatomegaly OMIM:619167
Sirenomelia
Sirenomelia, Spina bifida ORPHA:3169
Neurodevelopmental Disorder With Speech Impairment And Dysmorphic Facies
Obesity OMIM:619056
Chromosome 2Q37 Deletion Syndrome
Obesity OMIM:600430
Isolated Biliary Atresia
Periportal fibrosis, Small for gestational age, Failure to thrive, Cholestasis, Atretic gallbladd... ORPHA:30391
Neurodevelopmental Disorder With Or Without Variable Brain Abnormalities
Hepatomegaly, Obesity OMIM:618443
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Hepatic fibrosis, Splenomegaly, Increased body weight, Anemia, Cirrhosis, Hepatomegaly, Hepatocel... ORPHA:79240
Chromosome Xq27.3-Q28 Duplication Syndrome
Small for gestational age, Abdominal obesity OMIM:300869
Intellectual Developmental Disorder, X-Linked 107
Obesity OMIM:301013
Alström Syndrome
Chronic kidney disease, Testicular fibrosis, Hepatosplenomegaly, Hepatic steatosis, Polycystic ov... ORPHA:64
Autosomal Recessive Spondylocostal Dysostosis
Umbilical hernia, Intrauterine growth retardation, Short stature, Spina bifida occulta, Meningocele ORPHA:2311
Obesity-Hypoventilation Syndrome
Obesity OMIM:257500
Obesity Due To Congenital Leptin Deficiency
Obesity, Decreased proportion of CD4-positive helper T cells ORPHA:66628
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Obesity, Hepatomegaly, Jaundice, Overweight, Small for gestational age ORPHA:26793
Igg4-Related Thyroid Disease
Anti-thyroglobulin antibody positivity, Autoimmunity, Sclerosing cholangitis, Hashimoto thyroidit... ORPHA:64744
New-Onset Refractory Status Epilepticus
Autoimmunity, Infectious encephalitis ORPHA:363558
Idiopathic Hypereosinophilic Syndrome
Inflammatory abnormality of the skin, Hepatosplenomegaly, Thrombocytosis, Erythroderma, Neutrophi... ORPHA:3260
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Depletion of mitochondrial DNA in liver, Periportal fibrosis, Micronodular cirrhosis, Failure to ... OMIM:251880
Megalencephaly
Truncal obesity ORPHA:2477
X-Linked Intellectual Disability, Shashi Type
Obesity ORPHA:85286
Cerebrocostomandibular Syndrome
Hydranencephaly, Myelomeningocele, Intrauterine growth retardation, Spina bifida, Short stature, ... ORPHA:1393
Lipodystrophy, Congenital Generalized, Type 1
Umbilical hernia, Tall stature, Reduced subcutaneous adipose tissue, Hepatic steatosis, Splenomeg... OMIM:608594
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies
Cholelithiasis, Umbilical hernia, Hepatosplenomegaly, Obesity, Cholecystitis, Hepatomegaly OMIM:301066
Ring Chromosome Y Syndrome
Gonadoblastoma, Obesity ORPHA:261529
Shox-Related Short Stature
Obesity ORPHA:314795
Acrodysostosis 2 With Or Without Hormone Resistance
Obesity OMIM:614613
Abdominal Obesity-Metabolic Syndrome 4
Elevated hemoglobin A1c, Obesity OMIM:618620
Obesity Due To Leptin Receptor Gene Deficiency
Obesity, Decreased proportion of CD4-positive helper T cells ORPHA:179494
Sitosterolemia 1
Stomatocytosis, Giant platelets, Splenomegaly, Reticulocytosis, Episodic hemolytic anemia, Arthri... OMIM:210250
Glycogen Storage Disease Xii
Normocytic anemia, Cholelithiasis, Splenomegaly, Cholecystitis, Decreased erythrocyte fructose-1,... OMIM:611881
Juvenile Neuronal Ceroid Lipofuscinosis
Aspiration pneumonia ORPHA:79264
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome
Uveitis, Erysipelas, Fasciitis, Leukocytosis, Skin rash, Splenomegaly, Orchitis, Myositis, Perito... ORPHA:32960
Lysinuric Protein Intolerance
Hemophagocytosis, Failure to thrive, Leukopenia, Splenomegaly, Anemia, Pancreatitis, Thrombocytop... OMIM:222700
Meconium Aspiration Syndrome
Pneumothorax, Atelectasis, Aspiration pneumonia ORPHA:70588
Pyruvate Dehydrogenase E1-Alpha Deficiency
Recurrent aspiration pneumonia, Abnormal medullary pyramid morphology ORPHA:79243
Neurodevelopmental Disorder With Hypotonia, Dysmorphic Facies, And Skin Abnormalities
Obesity OMIM:620191
Psoriasis-Related Juvenile Idiopathic Arthritis
Uveitis, Sacroiliac arthritis, Psoriasiform dermatitis, Malar rash, Skin rash, Autoimmunity, Anti... ORPHA:85436
Anophthalmia Plus Syndrome
Spina bifida ORPHA:1104
Chediak-Higashi Syndrome
Periodontitis, Hemophagocytosis, Leukopenia, Giant neutrophil granules, Splenomegaly, Hepatomegal... OMIM:214500
Neurodevelopmental Disorder With Seizures, Spasticity, And Complete Or Partial Agenesis Of The Corpus Callosum
Overgrowth, Obesity OMIM:620250
Familial Tumoral Calcinosis
Hepatomegaly, Neoplasm of the skin, Splenomegaly ORPHA:53715
Insulin-Like Growth Factor I, Resistance To
Lipodystrophy, Reduced subcutaneous adipose tissue, Truncal obesity, Decreased body weight OMIM:270450
Isolated Posterior Meningocele
Hydrocephalus, Lipomyelomeningocele, Meningocele, Occipital meningocele, Neural tube defect ORPHA:268810
Generalized Pustular Psoriasis
Lymphopenia, Obesity, Overweight, Leukocytosis ORPHA:247353
Spondylodysplastic Ehlers-Danlos Syndrome
Short stature, Pulmonary hypoplasia ORPHA:536471
Chromosome 3Q29 Duplication Syndrome
Obesity OMIM:611936
Hardikar Syndrome
Portal inflammation, Cholestasis, Hepatosplenomegaly, Hypersplenism, Cirrhosis, Hepatomegaly, Jau... OMIM:301068
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies
Pulmonary hypoplasia OMIM:271520
Pseudohypoparathyroidism, Type Ib
Obesity OMIM:603233
Coloboma-Obesity-Hypogenitalism-Impaired Intellectual Development Syndrome
Obesity OMIM:601794
Congenital Myopathy 9A
Obesity OMIM:618822
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome
Obesity ORPHA:363741
Sarcoidosis, Susceptibility To, 1
Inflammation of the large intestine, Mediastinal lymphadenopathy, Emphysema, Pancytopenia, Pleura... OMIM:181000
Hemophagocytic Syndrome Associated With An Infection
Hemophagocytosis, Pancytopenia, Abnormal T cell subset distribution, Splenomegaly, Hepatomegaly, ... ORPHA:158048
Hypogonadotropic Hypogonadism 4 With Or Without Anosmia
Obesity OMIM:610628
Multiple Endocrine Neoplasia Type 1
Pituitary prolactin cell adenoma, Pituitary thyrotropic cell adenoma, Pituitary null cell adenoma... ORPHA:652
Tuberous Sclerosis Complex
Pituitary adenoma, Ungual fibroma, Pheochromocytoma, Cardiac rhabdomyoma, Retinal astrocytic hama... ORPHA:805
Dyskeratosis Congenita
Bone marrow hypocellularity, Hepatic failure, Blepharitis, Periodontitis, Abnormality of neutroph... ORPHA:1775
Schinzel-Giedion Syndrome
Recurrent pneumonia, Annular pancreas, Umbilical hernia, Hepatoblastoma, Myeloid leukemia, Neural... ORPHA:798
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type
Abdominal obesity OMIM:300354
Cornelia De Lange Syndrome 1
Pneumonia, Renal hypoplasia, Hypoplastic male external genitalia, Reduced renal corticomedullary ... OMIM:122470
Hyperlipoproteinemia, Type Id
Failure to thrive, Splenomegaly, Recurrent pancreatitis, Pancreatitis, Hepatomegaly OMIM:615947
Sarcoidosis
Abnormal lymph node morphology, Abnormal pleura morphology, Abnormal reproductive system morpholo... ORPHA:797
Thrombocytopenia 11 With Multiple Congenital Anomalies And Dysmorphic Facies
Umbilical hernia, Lymphopenia, Pancytopenia, Leukopenia, Obesity, Inguinal hernia, Thrombocytopen... OMIM:620654
Lipodystrophy, Congenital Generalized, Type 2
Umbilical hernia, Tall stature, Elevated hemoglobin A1c, Reduced subcutaneous adipose tissue, Hep... OMIM:269700
48,Xxxy Syndrome
Abnormal dental enamel morphology, Tall stature, Obesity, Inguinal hernia ORPHA:96263
Cntnap2-Related Developmental And Epileptic Encephalopathy
Hepatomegaly, Obesity ORPHA:163681
Igg4-Related Submandibular Gland Disease
Abnormal pancreas morphology, Autoimmunity, Renal insufficiency, Prostatitis, Eosinophilia, Lymph... ORPHA:449432
Body Mass Index Quantitative Trait Locus 19
Obesity OMIM:617885
Pde4D Haploinsufficiency Syndrome
Abnormal dental enamel morphology, Obesity ORPHA:439822
Tyrosinemia, Type I
Nephrocalcinosis, Hepatic failure, Elevated urinary succinylacetone level, Elevated circulating h... OMIM:276700
Late-Onset Isolated Acth Deficiency
Normocytic anemia, Pituitary adenoma, Hepatitis, Autoimmunity, Macrocytic anemia, Hashimoto thyro... ORPHA:199299
Parenteral Nutrition-Associated Cholestasis
Hepatic fibrosis, Cholelithiasis, Portal hypertension, Hepatic steatosis, Splenomegaly, Biliary h... ORPHA:567983
Thanatophoric Dysplasia Type 1
Aplasia/Hypoplasia of the lungs, Lethal short-limbed short stature ORPHA:1860
Gray Platelet Syndrome
Splenomegaly, Abnormal number of alpha granules, Thrombocytopenia OMIM:139090
Cohen Syndrome
Leukopenia, Childhood-onset truncal obesity, Small for gestational age, Neutropenia OMIM:216550
Smith-Magenis Syndrome
Failure to thrive in infancy, Obesity ORPHA:819
Sporadic Creutzfeldt-Jakob Disease
Recurrent aspiration pneumonia ORPHA:204
Apolipoprotein C-Ii Deficiency
Hepatomegaly, Pancreatitis, Splenomegaly OMIM:207750
Autoimmune Polyendocrinopathy Type 1
Autoimmunity, Chronic mucocutaneous candidiasis ORPHA:3453
Hypogonadotropic Hypogonadism 27 Without Anosmia
Obesity OMIM:619755
Pigmented Nodular Adrenocortical Disease, Primary, 2
Pancreatitis, Truncal obesity OMIM:610475
Leptin Receptor Deficiency
Obesity OMIM:614963
Tetrasomy 9P
Umbilical hernia, Intrauterine growth retardation, Absent gallbladder, Biliary atresia, Jaundice,... ORPHA:3310
Hypomagnesemia, Seizures, And Impaired Intellectual Development 1
Class III obesity OMIM:616418
Stiff-Person Syndrome
Anemia, Autoimmunity OMIM:184850
Degcags Syndrome
Chronic kidney disease, Cholestasis, Hepatosplenomegaly, Pancytopenia, Cryptorchidism, Abnormal r... OMIM:619488
Intellectual Developmental Disorder, X-Linked, Syndromic, Hackmann-Di Donato Type
Camptodactyly, Disproportionate tall stature, Abdominal obesity OMIM:301039
Dysbetalipoproteinemia
Hepatomegaly, Obesity, Acute pancreatitis, Hepatic steatosis ORPHA:412
Congenital Analbuminemia
Obesity, Lipodystrophy, Small for gestational age ORPHA:86816
Fountain Syndrome
Short stature, Spina bifida occulta, Spina bifida ORPHA:3219
Familial Hypocalciuric Hypercalcemia
Hypocalciuria, Hypomagnesiuria, Autoimmunity, Nephrolithiasis, Parathormone-independent increased... ORPHA:405
Momo Syndrome
Tall stature, Obesity, Large for gestational age, Overgrowth ORPHA:2563
Igg4-Related Dacryoadenitis And Sialadenitis
Autoimmunity, Cytoplasmic antineutrophil antibody positivity, Myositis, Antinuclear antibody posi... ORPHA:79078
Distal 16P11.2 Microdeletion Syndrome
Obesity ORPHA:261222
Osteogenesis Imperfecta
Rhizomelia, Umbilical hernia, Intrauterine growth retardation, Thrombocytopenia, Short stature, G... ORPHA:666
Corpus Callosum, Agenesis Of, With Impaired Intellectual Development, Ocular Coloboma, And Micrognathia
Recurrent aspiration pneumonia, Recurrent pneumonia, Patent ductus arteriosus, Bilateral cryptorc... OMIM:300472
Congenital-Onset Steinert Myotonic Dystrophy
Obesity, Decreased body weight ORPHA:589821
Gm1 Gangliosidosis Type 1
Hepatosplenomegaly, Increased urinary galactosylated oligosaccharide, Urinary glycosaminoglycan e... ORPHA:79255
Peripartum Cardiomyopathy
Myocarditis, Anemia, Autoimmunity, Left ventricular hypertrophy ORPHA:563
Myasthenia Gravis
Thymoma, Autoimmunity OMIM:254200
Pituitary Deficiency Due To Empty Sella Turcica Syndrome
Precocious puberty, Autoimmunity ORPHA:91354
Kleefstra Syndrome Due To 9Q34 Microdeletion
Femoral hernia, Obesity, Inguinal hernia, Failure to thrive ORPHA:96147
Morgagni-Stewart-Morel Syndrome
Obesity ORPHA:77296
Man1B1-Cdg
Truncal obesity ORPHA:397941
Wagro Syndrome
Obesity, Multiple exostoses, Nephroblastoma OMIM:612469
Laron Syndrome
Truncal obesity ORPHA:633
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay
Aminoaciduria, Nephrocalcinosis, Sideroblastic anemia, Splenomegaly, B lymphocytopenia, Schistocy... OMIM:616084
Pseudohypoparathyroidism, Type Ic
Obesity, Enamel hypoplasia OMIM:612462
Immunodeficiency 47
Hepatic bridging fibrosis, Hepatic fibrosis, Accessory spleen, Normocytic anemia, Failure to thri... OMIM:300972
Waardenburg Syndrome Type 1
Meningocele, Spina bifida ORPHA:894
Bardet-Biedl Syndrome 1
Hepatic fibrosis, Obesity, Biliary tract abnormality, Left ventricular hypertrophy, Truncal obesi... OMIM:209900
Proximal 16P11.2 Microdeletion Syndrome
Obesity, Congenital diaphragmatic hernia, Failure to thrive ORPHA:261197
Joubert Syndrome 14
Hydrocephalus, Meningocele, Growth delay, Encephalocele OMIM:614424
Pelvis-Shoulder Dysplasia
Hydranencephaly, Mesomelic/rhizomelic limb shortening, Neonatal short-trunk short stature, Spina ... ORPHA:2839
Desbuquois Dysplasia 1
Obesity OMIM:251450
Pituitary Adenoma 4, Acth-Secreting
Obesity, Pituitary adenoma, Abdominal obesity OMIM:219090
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies
Unilateral renal agenesis, Reduced natural killer cell count, Recurrent urinary tract infections,... ORPHA:221139
Hereditary Elliptocytosis
Cholelithiasis, Stomatocytosis, Abnormal erythrocyte morphology, Congenital hemolytic anemia, Ret... ORPHA:288
Localized Scleroderma
Fasciitis, Esophagitis, Autoimmunity, Hashimoto thyroiditis, Arthritis, Abnormality of the kidney... ORPHA:90289
Pseudohypoparathyroidism, Type Ia
Obesity, Enamel hypoplasia OMIM:103580
Cystic Fibrosis
Recurrent pneumonia, Biliary cirrhosis, Exocrine pancreatic insufficiency, Hepatosplenomegaly, Ch... OMIM:219700
Acth-Independent Macronodular Adrenal Hyperplasia
Neoplasm, Truncal obesity OMIM:219080
Orofaciodigital Syndrome Ix
Recurrent aspiration pneumonia, Hamartoma OMIM:258865
Wilson Disease
Acute hepatic failure, Hepatic steatosis, Cirrhosis, Elevated circulating alanine aminotransferas... OMIM:277900
Luscan-Lumish Syndrome
Overgrowth, Obesity OMIM:616831
Monosomy 13Q34
Obesity, Hepatic steatosis ORPHA:96168
X-Linked Intellectual Disability, Cabezas Type
Cachexia, Obesity, Inguinal hernia, Camptodactyly of finger ORPHA:85293
Den Hoed-De Boer-Voisin Syndrome
Obesity, Decreased body weight, Amelogenesis imperfecta, Enamel hypoplasia, Overweight OMIM:619229
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Failure to thrive, Small for gestational age, Truncal obesity ORPHA:73272
Mckusick-Kaufman Syndrome
Pulmonary hypoplasia OMIM:236700
Aicardi-Goutières Syndrome
Neonatal alloimmune thrombocytopenia, Elevated circulating hepatic transaminase concentration, He... ORPHA:51
Restrictive Dermopathy
Small placenta, Intrauterine growth retardation, Large placenta, Short umbilical cord, Pulmonary ... ORPHA:1662
White-Sutton Syndrome
Obesity, Congenital diaphragmatic hernia, Failure to thrive OMIM:616364
Mucopolysaccharidosis Type 3
Recurrent tonsillitis, Aspiration pneumonia, Heparan sulfate excretion in urine, Urinary glycosam... ORPHA:581
Fraser Syndrome 1
Myelomeningocele, Abnormal thymus morphology, Encephalocele, Pulmonary hypoplasia OMIM:219000
Aphalangy-Hemivertebrae-Urogenital-Intestinal Dysgenesis Syndrome
Pulmonary hypoplasia ORPHA:1112
Classic Pantothenate Kinase-Associated Neurodegeneration
Aspiration pneumonia ORPHA:216866
Ossification Anomalies-Psychomotor Developmental Delay Syndrome
Elevated circulating hepatic transaminase concentration, Hepatic hemangioma, Penile hypospadias, ... ORPHA:73230
Tetraamelia-Multiple Malformations Syndrome
Aplasia/Hypoplasia of the lungs, Abnormal lung lobation ORPHA:3301
Coffin-Siris Syndrome
Recurrent upper respiratory tract infections, Aspiration pneumonia, Horseshoe kidney, Cryptorchid... ORPHA:1465
Perrault Syndrome 4
Obesity, Disproportionate tall stature OMIM:615300
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum
Abnormal penis morphology, Moderate albuminuria, Acute kidney injury, Pneumonia, Inflammatory abn... ORPHA:95455
Pulmonary Alveolar Microlithiasis
Calcium nephrolithiasis, Bronchitis, Interlobular septal thickening, Subpleural interstitial thic... ORPHA:60025
Iniencephaly
Rhizomelia, Spinal dysraphism, Myelomeningocele, Encephalocele, Spina bifida, Hydrocephalus, Holo... ORPHA:63259
Mucopolysaccharidosis, Type Vi
Pneumonia, Recurrent upper respiratory tract infections, Splenomegaly, Dermatan sulfate excretion... OMIM:253200
Aicardi Syndrome
Metastatic angiosarcoma, Teratoma, Hiatus hernia, Hemangioma, Hepatoblastoma, Lipoma, Carcinoma OMIM:304050
Gaucher Disease Type 3
Pancytopenia, Splenomegaly, Hematuria, Proteinuria, Anemia, Thrombocytopenia, Hepatomegaly, Abnor... ORPHA:77261
Congenital Erythropoietic Porphyria
Seborrhoeic blepharitis, Neoplasm of the skin, Red-brown urine, Purple urine, Leukopenia, Increas... ORPHA:79277
Metaphyseal Chondrodysplasia, Schmid Type
Obesity ORPHA:174
8P23.1 Microdeletion Syndrome
Obesity, Weight loss, Congenital diaphragmatic hernia ORPHA:251071
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome
Short stature, Meningocele ORPHA:2031
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant
Stomatocytosis, Splenomegaly, Thrombocytopenia, Hemolytic anemia, Increased mean platelet volume OMIM:153670
Chronic Thromboembolic Pulmonary Hypertension
Inflammation of the large intestine, Osteomyelitis, Neoplasm, Autoimmunity, Lupus anticoagulant, ... ORPHA:70591
Xylt1-Cdg
Hepatomegaly, Truncal obesity ORPHA:370930
Extracranial Carotid Artery Aneurysm
Total anomalous pulmonary venous return, Arteritis, Autoimmunity ORPHA:494424
Borjeson-Forssman-Lehmann Syndrome
Camptodactyly of toe, Truncal obesity ORPHA:127
Bardet-Biedl Syndrome 6
Obesity OMIM:605231
Short Stature, Microcephaly, And Endocrine Dysfunction
Anemia, Lymphopenia, Inguinal hernia, Truncal obesity OMIM:616541
Fraser Syndrome
Umbilical hernia, Myelomeningocele, Abnormal lung lobation, Encephalocele, Death in infancy, Pulm... ORPHA:2052
Sacral Defect With Anterior Meningocele
Myelomeningocele, Myeloschisis, Hydrocephalus, Meningocele, Dermal sinus tract OMIM:600145
Momo Syndrome
Overgrowth, Obesity OMIM:157980
Mohr-Tranebjaerg Syndrome
Aspiration pneumonia ORPHA:52368
Hypotonia, Hypoventilation, Impaired Intellectual Development, Dysautonomia, Epilepsy, And Eye Abnormalities
Elbow flexion contracture, Obesity, Hip contracture OMIM:618493
Fliedner-Zweier Syndrome
Obesity OMIM:620511
Rabin-Pappas Syndrome
Failure to thrive in infancy, Overgrowth, Obesity OMIM:620155
Secondary Intestinal Lymphangiectasia
Lymphoma, Lymphopenia, Autoimmunity, Pleural effusion, Constrictive pericarditis, B-cell lymphoma... ORPHA:90363
Neurocutaneous Melanocytosis
Meningocele ORPHA:2481
Cohen Syndrome
Failure to thrive in infancy, Obesity, Neutropenia ORPHA:193
Bardet-Biedl Syndrome 17
Obesity OMIM:615994
Blau Syndrome
Nephropathy, Posterior uveitis, Keratitis, Abnormality of the liver, Stage 5 chronic kidney disea... ORPHA:90340
Tetraamelia Syndrome 2
Bilateral lung agenesis, Hypoplastic pulmonary veins OMIM:618021
Monosomy 18P
Autoimmunity ORPHA:1598
Addison Disease
Normocytic anemia, Thymoma, Autoimmunity, Thiamine-responsive megaloblastic anemia, Hashimoto thy... ORPHA:85138
Alpha-Mannosidosis, Infantile Form
Pneumonia, Oligosacchariduria, Recurrent urinary tract infections, Hepatosplenomegaly, Pancytopen... ORPHA:309282
Cleft Lip/Palate-Deafness-Sacral Lipoma Syndrome
Meningocele ORPHA:2003
Lymphedema-Distichiasis Syndrome
Fibrosarcoma ORPHA:33001
Hennekam-Beemer Syndrome
Pneumonia, Mastocytosis ORPHA:2135
Ulbright-Hodes Syndrome
Postnatal growth retardation, Birth length less than 3rd percentile, Pneumothorax, Severe intraut... ORPHA:3404
Proprotein Convertase 1/3 Deficiency
Obesity OMIM:600955
Silver-Russell Syndrome
Failure to thrive in infancy, Cachexia, Obesity ORPHA:813
Angelman Syndrome Due To A Point Mutation
Obesity ORPHA:411511
Marbach-Schaaf Neurodevelopmental Syndrome
Obesity OMIM:619680
Neuroleptic Malignant Syndrome
Acute kidney injury, Elevated circulating hepatic transaminase concentration, Aspiration pneumoni... ORPHA:94093
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Pneumonia, Abnormality of the urinary system, Meningioma, Recurrent urinary tract infections, Neo... ORPHA:353281
Hyperlipoproteinemia, Type I
Jaundice, Hepatosplenomegaly, Acute pancreatitis, Splenomegaly OMIM:238600
Acute Adrenal Insufficiency
Normocytic anemia, Recurrent acute respiratory tract infection, Autoimmunity, Renal insufficiency... ORPHA:95409
Ellis Van Creveld Syndrome
Neonatal short-limb short stature, Acute leukemia, Emphysema, Intrauterine growth retardation, Ap... ORPHA:289
Distal Deletion 12Q
Congenital hypertrophy of left ventricle, Pituitary adenoma, Annular pancreas, Elbow flexion cont... ORPHA:96149
White-Sutton Syndrome
Ventral hernia, Obesity, Inguinal hernia, Congenital diaphragmatic hernia ORPHA:468678
Kleefstra Syndrome
Hernia, Obesity ORPHA:261494
Neu-Laxova Syndrome 2
Intrauterine growth retardation, Spina bifida OMIM:616038
Amish Lethal Microcephaly
Spina bifida ORPHA:99742
Infantile Neuroaxonal Dystrophy
Aspiration pneumonia ORPHA:35069
Bdv Syndrome
Obesity OMIM:619326
22Q11.2 Deletion Syndrome
Acne, Renal hypoplasia, Cholelithiasis, Atelectasis, Abnormal lung lobation, Abnormality of the u... ORPHA:567
1P36 Deletion Syndrome
Annular pancreas, Failure to thrive, Camptodactyly of finger, Abnormality of the spleen, Abnormal... ORPHA:1606
Gaucher Disease, Type Iiic
Hepatomegaly, Pancytopenia, Cardiomegaly, Splenomegaly OMIM:231005
Gaisböck Syndrome
Increased red blood cell count, Increased mean corpuscular hemoglobin concentration, Increased he... ORPHA:90041
Juvenile Dermatomyositis
Autoimmunity, Skin rash, Myositis, Arthritis, Pulmonary fibrosis, Pericarditis ORPHA:93672
Multiple Myeloma
Nephropathy, Acute kidney injury, Pleural effusion, Splenomegaly, Lymphadenopathy, Anemia, Nephro... ORPHA:29073
Acth-Independent Macronodular Adrenal Hyperplasia 2
Increased body weight, Abdominal obesity OMIM:615954
Porphyria, Congenital Erythropoietic
Joint contracture of the hand, Atypical scarring of skin, Cholelithiasis, Corneal scarring, Reduc... OMIM:263700
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion
Recurrent pneumonia, Aspiration pneumonia ORPHA:314655
Amoebiasis Due To Free-Living Amoebae
Pneumonia, Increased red blood cell count, Granuloma, Intrarenal abscess, Respiratory tract infec... ORPHA:68
Müllerian Aplasia And Hyperandrogenism
Obesity ORPHA:247768
Focal Dermal Hypoplasia
Umbilical hernia, Acute hepatic failure, Abnormality of the pulmonary vasculature, Aplasia/Hypopl... ORPHA:2092
Bickerstaff Brainstem Encephalitis
Pneumonia, Autoimmune antibody positivity, Respiratory tract infection ORPHA:79138
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3
Obesity OMIM:618395
Sim1-Related Prader-Willi-Like Syndrome
Obesity, Failure to thrive, Abdominal obesity ORPHA:398079
Achondroplasia
Obesity ORPHA:15
Deafness-Genital Anomalies-Metacarpal And Metatarsal Synostosis Syndrome
Truncal obesity ORPHA:3224
Ehlers-Danlos Syndrome, Periodontal Type, 1
Autoimmunity, Periodontitis OMIM:130080
Symptomatic Form Of Fragile X Syndrome In Female Carriers
Recurrent otitis media, Autoimmunity ORPHA:449291
Angelman Syndrome
Obesity OMIM:105830
Midface Hypoplasia, Obesity, Developmental Delay, And Neonatal Hypotonia
Obesity OMIM:608624
Ataxia-Oculomotor Apraxia 4
Obesity OMIM:616267
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Recurrent aspiration pneumonia, Elevated circulating hepatic transaminase concentration, Hyperech... ORPHA:397715
Glossopharyngeal Neuralgia
Schwannoma, Neoplasm, Autoimmunity ORPHA:221098
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion
Obesity ORPHA:98794
Spastic Paraplegia, Intellectual Disability, Nystagmus, And Obesity
Obesity OMIM:617296
Cholera
Abnormality of renal excretion, Acute kidney injury, Decreased urine output, Aspiration pneumonia ORPHA:173
Aromatase Deficiency
Tall stature, Obesity, Eunuchoid habitus, Hepatic steatosis, Enlarged polycystic ovaries ORPHA:91
Alstrom Syndrome
Obesity, Hepatic steatosis, Truncal obesity, Chronic active hepatitis, Hepatomegaly, Elevated hem... OMIM:203800
Kleefstra Syndrome 1
Obesity OMIM:610253
Prader-Willi Syndrome
Failure to thrive in infancy, Obesity, Class III obesity, Abdominal obesity OMIM:176270
Acromelic Frontonasal Dysplasia
Meningocele, Encephalocele ORPHA:1827
X-Linked Dystonia-Parkinsonism
Aspiration pneumonia ORPHA:53351
3Q29 Microduplication Syndrome
Camptodactyly of toe, Obesity ORPHA:251038
Penile Agenesis
Bilateral lung agenesis, Pulmonary hypoplasia ORPHA:49
Digeorge Syndrome
Unilateral renal agenesis, Recurrent pneumonia, Cholelithiasis, Atelectasis, Renal dysplasia, Rec... OMIM:188400
Geleophysic Dysplasia 3
Pneumonia, Hepatomegaly OMIM:617809
Opitz Gbbb Syndrome
Abnormality of the urinary system, Bifid scrotum, Vesicoureteral reflux, Cryptorchidism, Hydronep... ORPHA:2745
Plague
Inflammation of the large intestine, Lymphadenitis, Chapped lip, Skin rash, Splenomegaly, Hepatom... ORPHA:707
Bardet-Biedl Syndrome 20
Obesity, Pancreatitis OMIM:619471
Cushing Disease
Lymphopenia, Dorsocervical fat pad, Leukocytosis, Increased body weight, Abdominal obesity, Trunc... ORPHA:96253
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type
Disproportionate short-limb short stature, Congenital hepatic fibrosis, Pulmonary hypoplasia ORPHA:93271
Lateral Meningocele Syndrome
Short stature, Meningocele, Hydrocephalus, Umbilical hernia OMIM:130720
Septo-Optic Dysplasia Spectrum
Obesity ORPHA:3157
Congenital Total Pulmonary Venous Return Anomaly
Mixed total anomalous pulmonary venous connection, Pulmonary artery stenosis, Infracardiac total ... ORPHA:99125
Angelman Syndrome
Obesity ORPHA:72
Rubinstein-Taybi Syndrome 1
Accessory spleen, Keloids, Failure to thrive, Capillary hemangioma, Neoplasm, Enamel hypoplasia, ... OMIM:180849
Holoprosencephaly
Spinal dysraphism, Abnormality of the spleen, Branchial anomaly, Encephalocele, Aplasia/Hypoplasi... ORPHA:2162
Microcephalic Osteodysplastic Primordial Dwarfism Type Ii
Anemia, Truncal obesity ORPHA:2637
Lissencephaly Due To Lis1 Mutation
Aspiration pneumonia ORPHA:95232
Trisomy 18
Growth delay, Intrauterine growth retardation, Spina bifida, Short stature, Holoprosencephaly, An... ORPHA:3380
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome
Recurrent aspiration pneumonia, Peripheral pulmonary artery stenosis, Abnormal renal collecting s... ORPHA:280633
Cystic Fibrosis
Elevated circulating hepatic transaminase concentration, Absent vas deferens, Exocrine pancreatic... ORPHA:586
Lateral Meningocele Syndrome
Meningocele, Umbilical hernia ORPHA:2789
Marshall-Smith Syndrome
Recurrent upper respiratory tract infections, Aspiration pneumonia, Bilateral cryptorchidism, Cry... OMIM:602535
Sheehan Syndrome
Obesity, Normochromic anemia ORPHA:91355
Ulnar-Mammary Syndrome
Hernia of the abdominal wall, Obesity, Camptodactyly of finger ORPHA:3138
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Neurofibroma, Failure to thrive, Abnormal abdomen morphology, Obesity, Hepatic steatosis, Decreas... OMIM:619475
Magel2-Related Prader-Willi-Like Syndrome
Increased body weight, Flexion contracture, Failure to thrive, Abdominal obesity ORPHA:398069
Retinal Dystrophy With Or Without Macular Staphyloma
Truncal obesity OMIM:617547
Wolf-Hirschhorn Syndrome
Abdominal situs inversus, Abnormality of the gallbladder, Intrauterine growth retardation, Aplasi... ORPHA:280
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome
Obesity ORPHA:2235
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15
Obesity, Small for gestational age, Failure to thrive ORPHA:98754
Autosomal Recessive Spastic Paraplegia Type 11
Obesity, Overweight ORPHA:2822
Chromosome 17P13.1 Deletion Syndrome
Hydrocephalus, Spina bifida, Umbilical hernia OMIM:613776
7Q11.23 Microduplication Syndrome
Obesity, Inguinal hernia, Congenital diaphragmatic hernia ORPHA:96121
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion
Obesity, Small for gestational age, Failure to thrive ORPHA:98793
Combined Oxidative Phosphorylation Deficiency 25
Aspiration pneumonia OMIM:616430
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2
Obesity, Small for gestational age, Failure to thrive ORPHA:177904
Niemann-Pick Disease Type C
Fetal ascites, Hepatic failure, Aspiration pneumonia, Ascites, Hepatosplenomegaly, Abnormality of... ORPHA:646
Narcolepsy 7
Obesity OMIM:614250
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1
Obesity, Small for gestational age, Failure to thrive ORPHA:177901
Ectodermal Dysplasia And Immunodeficiency 2
Hepatomegaly, Splenomegaly, Failure to thrive OMIM:612132
Lumbar Syndrome
Myelomeningocele, Spina bifida ORPHA:83628
Bardet-Biedl Syndrome 12
Abdominal mass, Obesity OMIM:615989
Trisomy 20P
Spina bifida, Umbilical hernia ORPHA:261318
Encephalitis Lethargica
Urinary incontinence, Autoimmunity ORPHA:83600
Combined Oxidative Phosphorylation Deficiency 15
Obesity, Inguinal hernia OMIM:614947
Mosaic Trisomy 9
Intrauterine growth retardation, Spina bifida ORPHA:99776
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Pneumonia, Abnormality of the urinary system, Meningioma, Recurrent urinary tract infections, Ves... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Pneumonia, Abnormality of the urinary system, Meningioma, Recurrent urinary tract infections, Ves... ORPHA:353277
Lathosterolosis
Intrauterine growth retardation, Meningocele ORPHA:46059
Webb-Dattani Syndrome
Obesity OMIM:615926
Retinitis Pigmentosa
Obesity ORPHA:791
Turner Syndrome Due To Structural X Chromosome Anomalies
Cholestatic liver disease, Hepatic fibrosis, Atypical scarring of skin, Biliary cirrhosis, Failur... ORPHA:99413
Mosaic Monosomy X
Cholestatic liver disease, Hepatic fibrosis, Atypical scarring of skin, Biliary cirrhosis, Failur... ORPHA:99228
Monosomy X
Cholestatic liver disease, Hepatic fibrosis, Atypical scarring of skin, Biliary cirrhosis, Failur... ORPHA:99226
Turner Syndrome
Cholestatic liver disease, Hepatic fibrosis, Atypical scarring of skin, Biliary cirrhosis, Failur... ORPHA:881
Tay-Sachs Disease
Precocious puberty, Aspiration pneumonia ORPHA:845
Prader-Willi Syndrome Due To Translocation
Obesity ORPHA:177907
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Obesity ORPHA:369837
Microcephalic Primordial Dwarfism, Dauber Type
Obesity ORPHA:319675
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To Wac Point Mutation
Obesity, Truncal obesity ORPHA:466950
Desbuquois Dysplasia 2
Truncal obesity OMIM:615777
Kabuki Syndrome 1
Anoperineal fistula, Recurrent otitis media, Crossed fused renal ectopia, Ureteropelvic junction ... OMIM:147920
Kallmann Syndrome
Obesity ORPHA:478
Helsmoortel-Van Der Aa Syndrome
Obesity, Failure to thrive, Truncal obesity, Enlarged kidney OMIM:615873
Craniopharyngioma
Obesity, Neoplasm of the anterior pituitary ORPHA:54595
Miller-Dieker Lissencephaly Syndrome
Recurrent aspiration pneumonia, Pelvic kidney, Cryptorchidism OMIM:247200
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies
Obesity, Inguinal hernia OMIM:618653
Phocomelia, Schinzel Type
Intrauterine growth retardation, Disproportionate short stature, Meningocele ORPHA:2879
Adult-Onset Autosomal Dominant Leukodystrophy
Recurrent urinary tract infections, Urinary urgency, Urinary retention, Aspiration pneumonia ORPHA:99027
Proximal Spinal Muscular Atrophy
Recurrent infections due to aspiration, Recurrent aspiration pneumonia ORPHA:70
Intellectual Developmental Disorder, Autosomal Dominant 29
Obesity OMIM:616078
Limb Body Wall Complex
Myelomeningocele, Encephalocele, Short umbilical cord, Spina bifida, Hydrocephalus, Spina bifida ... ORPHA:2369
Metaphyseal Dysostosis, Impaired Intellectual Development, And Conductive Deafness
Obesity OMIM:250420
Phakomatosis Pigmentokeratotica
Spina bifida ORPHA:2874
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii
Enamel hypoplasia, Truncal obesity OMIM:210720
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Precocious puberty, Aspiration pneumonia, Vesicoureteral reflux, Cryptorchidism, Uterine prolapse... ORPHA:438213
Waardenburg Syndrome, Type 1
Myelomeningocele, Spina bifida OMIM:193500
Kabuki Syndrome
Obesity, Congenital diaphragmatic hernia, Failure to thrive ORPHA:2322
Genitopatellar Syndrome
Pulmonary hypoplasia OMIM:606170
Cloacal Exstrophy
Myelomeningocele, Spina bifida ORPHA:93929
Microcephaly, Epilepsy, And Diabetes Syndrome 1
Jaundice, Obesity OMIM:614231
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome
Aspiration pneumonia, Horseshoe kidney, Vesicoureteral reflux, Hypospadias, Patent ductus arteriosus ORPHA:444077
Odontochondrodysplasia 2 With Hearing Loss And Diabetes
Dentinogenesis imperfecta, Obesity OMIM:619269
Pigmented Nodular Adrenocortical Disease, Primary, 1
Truncal obesity OMIM:610489
Pseudohypoparathyroidism Type 1C
Obesity, Enamel hypoplasia ORPHA:79444
Ciliary Dyskinesia, Primary, 20
Recurrent pneumonia, Atelectasis, Recurrent otitis media, Recurrent sinusitis, Pulmonary artery s... OMIM:615067
Intellectual Disability-Seizures-Macrocephaly-Obesity Syndrome
Obesity, Failure to thrive ORPHA:369950
Pallister-Killian Syndrome
Rhizomelia, Umbilical hernia, Mesomelic/rhizomelic limb shortening, Stillbirth, Growth delay, Pul... OMIM:601803
Curry-Jones Syndrome
Occipital meningocele, Lipomyelomeningocele OMIM:601707
Zttk Syndrome
Intrauterine growth retardation, Absent gallbladder, Unilateral lung agenesis, Short stature, Gro... OMIM:617140
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies
Flexion contracture, Leukocytosis, Hepatic steatosis, Abdominal obesity OMIM:619321
Angioedema, Hereditary, 1
Autoimmunity OMIM:106100
Hallermann-Streiff Syndrome
Spina bifida, Proportionate short stature OMIM:234100
Arboleda-Tham Syndrome
Recurrent respiratory infections, Recurrent urinary tract infections, Recurrent otitis media, Bil... OMIM:616268
Abdominal Obesity-Metabolic Syndrome 3
Truncal obesity, Abdominal obesity OMIM:615812
Retinitis Pigmentosa 74
Obesity OMIM:616562
Loeys-Dietz Syndrome 6
Hip osteoarthritis, Spontaneous pneumothorax, Autoimmunity, Knee osteoarthritis, Osteoarthritis OMIM:619656
Atrial Septal Defect, Coronary Sinus Type
Pneumonia, Anomalous pulmonary venous return ORPHA:99104
Adnp Syndrome
Inguinal hernia, Truncal obesity, Umbilical hernia ORPHA:404448
Myhre Syndrome
Camptodactyly, Obesity, Small for gestational age OMIM:139210
Prader-Willi Syndrome
Failure to thrive, Abdominal obesity ORPHA:739
Pseudohypoparathyroidism Type 1A
Obesity, Enamel hypoplasia ORPHA:79443
Wac-Related Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome
Obesity ORPHA:466943
Thyrotoxic Periodic Paralysis
Obesity, Weight loss ORPHA:79102
Fibular Hemimelia
Spina bifida ORPHA:93323
Acute Transverse Myelitis
Urinary retention, Systemic lupus erythematosus, Urinary bladder sphincter dysfunction, Autoimmun... ORPHA:139417
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Obesity, Ganglioneuroma, Ganglioneuroblastoma ORPHA:293987
Basal Cell Nevus Syndrome 1
Hydrocephalus, Spina bifida OMIM:109400
Doors Syndrome
Increased urine alpha-ketoglutarate concentration, Nephrocalcinosis, Abnormality of the urinary s... ORPHA:79500
45,X/46,Xy Mixed Gonadal Dysgenesis
Cervix cancer, Gonadoblastoma, Obesity ORPHA:1772
Wiedemann-Rautenstrauch Syndrome
Pneumonia, Long penis, Cryptorchidism, Hypoplasia of the thymus, Recurrent respiratory infections... OMIM:264090
Jacobsen Syndrome
Short stature, Intrauterine growth retardation, Growth delay, Spina bifida ORPHA:2308
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion
Ossifying fibroma, Schwannoma, Lisch nodules, Hemangioma, Optic nerve glioma, Proportionate tall ... ORPHA:363700
White-Kernohan Syndrome
Obesity OMIM:619426
Bardet-Biedl Syndrome
Hepatic fibrosis, Childhood-onset truncal obesity, Obesity, Hepatic steatosis ORPHA:110
Neurofibromatosis, Type I
Short stature, Aqueductal stenosis, Spina bifida, Hydrocephalus OMIM:162200
Orofaciodigital Syndrome Vi
Short stature, Occipital meningocele OMIM:277170
Xq21 Microdeletion Syndrome
Obesity ORPHA:1435
Craniofacial Microsomia 1
Branchial anomaly, Occipital encephalocele, Pulmonary hypoplasia OMIM:164210
Holoprosencephaly 7
Alobar holoprosencephaly, Semilobar holoprosencephaly, Hydrocephalus, Holoprosencephaly, Occipita... OMIM:610828
Williams Syndrome
Cholelithiasis, Umbilical hernia, Abnormal dental enamel morphology, Failure to thrive in infancy... ORPHA:904
Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction
Urinary incontinence, Aspiration pneumonia OMIM:619482
Monosomy 22Q13.3
Obesity, Umbilical hernia ORPHA:48652
Hereditary Sensory And Autonomic Neuropathy Type 4
Chronic kidney disease, Fasciitis, Osteomyelitis, Abscess, Anemia, Tooth abscess, Septic arthriti... ORPHA:642
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Short stature, Spina bifida ORPHA:508498
Vater/Vacterl Association
Occipital encephalocele, Postnatal growth retardation, Intrauterine growth retardation, Spina bif... OMIM:192350
Atrial Septal Defect, Ostium Secundum Type
Pneumonia ORPHA:99103
6Q Terminal Deletion Syndrome
Obesity, Failure to thrive ORPHA:75857
Campomelic Dysplasia
Neonatal short-limb short stature, Spinal dysraphism, Disproportionate short-limb short stature, ... OMIM:114290
17Q24.2 Microdeletion Syndrome
Failure to thrive in infancy, Truncal obesity ORPHA:529962
Carpenter Syndrome 2
Camptodactyly, Obesity, Knee flexion contracture, Umbilical hernia OMIM:614976
Autosomal Dominant Palmoplantar Keratoderma And Congenital Alopecia
Meningocele ORPHA:1010
1P21.3 Microdeletion Syndrome
Obesity ORPHA:293948
Tako-Tsubo Cardiomyopathy
Obesity ORPHA:66529
Congenital Fiber-Type Disproportion Myopathy
Recurrent respiratory infections, Aspiration pneumonia ORPHA:2020
Koolen-De Vries Syndrome Due To A Point Mutation
Hydrocephalus, Postnatal growth retardation, Spina bifida ORPHA:363965
17Q21.31 Microdeletion Syndrome
Hydrocephalus, Postnatal growth retardation, Spina bifida ORPHA:363958
Microphthalmia, Syndromic 1
Growth delay, Pulmonary hypoplasia OMIM:309800
Witteveen-Kolk Syndrome
Obesity, Inguinal hernia, Congenital diaphragmatic hernia, Contracture of the distal interphalang... OMIM:613406
Williams-Beuren Syndrome
Umbilical hernia, Failure to thrive in infancy, Obesity, Portal hypertension, Inguinal hernia, Fl... OMIM:194050
Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures
Obesity, Failure to thrive OMIM:617157
Thrombocytopenia-Absent Radius Syndrome
Short stature, Spina bifida OMIM:274000
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Emphysema, Intrauterine growth retardation, Absent gallbladder, Proportionate short stature, Unil... ORPHA:500150
Ulnar-Mammary Syndrome
Elbow flexion contracture, Obesity, Inguinal hernia OMIM:181450
Chromosome 1P36 Deletion Syndrome, Distal
Camptodactyly, Obesity, Camptodactyly of finger OMIM:607872
Arima Syndrome
Occipital meningocele, Growth delay OMIM:243910
Knobloch Syndrome 1
Spina bifida occulta, Occipital encephalocele, Occipital meningocele OMIM:267750
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb
Camptodactyly, Failure to thrive, Truncal obesity OMIM:612474
Holoprosencephaly 9
Alobar holoprosencephaly, Hydrocephalus, Short stature, Holoprosencephaly, Occipital meningocele OMIM:610829
Cutis Laxa, Autosomal Recessive, Type Ib
Spina bifida, Neonatal death OMIM:614437
Cornelia De Lange Syndrome
Failure to thrive, Congenital diaphragmatic hernia, Truncal obesity ORPHA:199
Otopalatodigital Syndrome, Type Ii
Umbilical hernia, Postnatal growth retardation, Spina bifida, Hydrocephalus, Stillbirth, Short st... OMIM:304120
Neurodevelopmental Disorder With Dysmorphic Facies And Thin Corpus Callosum
Spina bifida OMIM:619480
Semilobar Holoprosencephaly
Aspiration pneumonia ORPHA:220386
Alobar Holoprosencephaly
Aspiration pneumonia ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly
Aspiration pneumonia ORPHA:93926
Lobar Holoprosencephaly
Aspiration pneumonia ORPHA:93924
Lafora Disease
Recurrent aspiration pneumonia, Hepatic failure ORPHA:501
Femoral-Facial Syndrome
Short stature, Encephalocele, Spina bifida OMIM:134780
Pmm2-Cdg
Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Hyperplastic labia maj... ORPHA:79318
Marfan Syndrome
Meningocele ORPHA:558
Intellectual Disability-Hypotonic Facies Syndrome, X-Linked, 1
Obesity OMIM:309580
Exstrophy-Epispadias Complex
Hydrocephalus, Spina bifida ORPHA:322
Primrose Syndrome
Truncal obesity, Flexion contracture, Knee flexion contracture, Hip contracture OMIM:259050
Yunis-Varon Syndrome
Micropenis, Hypospadias, Cryptorchidism, Aspiration pneumonia OMIM:216340
Ulna And Fibula, Absence Of, With Severe Limb Deficiency
Disproportionate short stature, Occipital meningocele 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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