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Gene: Lipa MGI:96789

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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:
lysosomal acid lipase A
Synonyms:
Lal,  Lip1,  Lip-1

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 Lipa 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.

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

Disease Similarity of
phenotypes		 Matching phenotypes Source
Alpha-1-Antitrypsin Deficiency
Elevated circulating hepatic transaminase concentration, Reduced circulating alpha-1-antitrypsin ... OMIM:613490
Multiple Symmetric Lipomatosis
Hepatomegaly, Multiple lipomas, Abnormal adipose tissue morphology, Insulin resistance ORPHA:2398
Lipodystrophy, Congenital Generalized, Type 3
Insulin resistance, Generalized lipodystrophy, Hepatosplenomegaly, Reduced subcutaneous adipose t... OMIM:612526
Congenital Disorder Of Glycosylation, Type Il
Hypoalbuminemia, Failure to thrive, Ascites, Hypocholesterolemia, Villous atrophy, Splenomegaly, ... OMIM:608776
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Cellulitis, Hepatosplenomegaly, Psoriasiform dermatitis, Decreased CD4:CD8 ratio, Erythroderma, D... OMIM:606367
Alpha-1-Antitrypsin Deficiency
Hepatic failure, Reduced circulating alpha-1-antitrypsin concentration, Nephrotic syndrome, Hepat... ORPHA:60
Plin1-Related Familial Partial Lipodystrophy
Hepatic fibrosis, Hyperinsulinemia, Reduced subcutaneous adipose tissue, Hepatic steatosis, Polyc... ORPHA:280356
Autoinflammation With Infantile Enterocolitis
Hypoalbuminemia, Diffuse alveolar hemorrhage, Reduced natural killer cell count, Failure to thriv... OMIM:616050
Obesity Due To Prohormone Convertase I Deficiency
Failure to thrive, Cholestasis, Decreased response to growth hormone stimulation test, Hyperinsul... ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Failure to thrive, Cholestasis, Decreased response to growth hormone stimulation test, Hyperinsul... ORPHA:71526
Immunodeficiency 104
Pneumonia, Gastroesophageal reflux, Eczematoid dermatitis, Chronic mucocutaneous candidiasis, Fai... OMIM:608971
Mandibuloacral Dysplasia
Insulin resistance, Alopecia, Increased subcutaneous truncal adipose tissue, Increased circulatin... ORPHA:2457
Lipodystrophy, Congenital Generalized, Type 4
Insulin resistance, Recurrent pneumonia, Elevated circulating hepatic transaminase concentration,... OMIM:613327
Severe Neurodegenerative Syndrome With Lipodystrophy
Insulin resistance, Generalized lipodystrophy, Hyperinsulinemia, Hepatic steatosis, Reduced subcu... ORPHA:363400
Familial Partial Lipodystrophy, Köbberling Type
Insulin resistance, Hyperinsulinemia, Hepatic steatosis, Polycystic ovaries, Pancreatitis, Hepato... ORPHA:79084
Immunodeficiency, Common Variable, 8, With Autoimmunity
Inflammation of the large intestine, Recurrent otitis media, Pancytopenia, Erythema nodosum, Auto... OMIM:614700
Congenital Disorder Of Glycosylation, Type Ib
Hypoalbuminemia, Protein-losing enteropathy, Hepatic fibrosis, Hepatic failure, Proximal tubulopa... OMIM:602579
Congenital Generalized Lipodystrophy
Insulin resistance, Precocious puberty in females, Failure to thrive, Hypertrichosis, Hyperinsuli... ORPHA:528
Lipodystrophy, Familial Partial, Type 3
Insulin resistance, Insulin-resistant diabetes mellitus, Decreased HDL cholesterol concentration,... OMIM:604367
Sarcoidosis, Susceptibility To, 2
Mediastinal lymphadenopathy, Emphysema, Pleural effusion, Splenomegaly, Pneumothorax, Erythema no... OMIM:612387
Lipodystrophy, Partial, Acquired, Susceptibility To
Loss of subcutaneous adipose tissue from upper limbs, Abnormal circulating lipid concentration, L... OMIM:608709
Acquired Partial Lipodystrophy
Insulin resistance, Hepatic steatosis, Generalized hirsutism, Proteinuria, Microscopic hematuria,... ORPHA:79087
Immunodeficiency 31C
Lymphopenia, Weight loss, Hepatomegaly, Gastrointestinal eosinophilia, Eczematoid dermatitis, Ost... OMIM:614162
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Alopecia, Ventriculomegaly, Type I diabetes mellitus, Hepatitis, Eczematoid dermatitis, Failure t... OMIM:304790
Lipodystrophy, Familial Partial, Type 4
Insulin resistance, Insulin-resistant diabetes mellitus, Hepatic steatosis, Lipodystrophy, Hypert... OMIM:613877
Common Variable Immunodeficiency
Pneumonia, Elevated circulating hepatic transaminase concentration, Bronchiectasis, Recurrent res... ORPHA:1572
Lipodystrophy, Familial Partial, Type 6
Insulin resistance, Abnormal circulating lipid concentration, Hyperlipidemia, Hepatic steatosis, ... OMIM:615980
Congenital Disorder Of Glycosylation, Type Ia
Hypoalbuminemia, Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Proxi... OMIM:212065
Pparg-Related Familial Partial Lipodystrophy
Insulin resistance, Insulin-resistant diabetes mellitus, Loss of facial adipose tissue, Hepatic s... ORPHA:79083
Familial Partial Lipodystrophy, Dunnigan Type
Cellulitis, Insulin resistance, Hepatic steatosis, Splenomegaly, Polycystic ovaries, Generalized ... ORPHA:2348
Obesity Due To Melanocortin 4 Receptor Deficiency
Hyperinsulinemia, Obesity, Type II diabetes mellitus, Polyphagia, Childhood-onset truncal obesity... ORPHA:71529
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Pneumonia, Increased circulating free fatty acid level, Elevated circulating hepatic transaminase... ORPHA:26793
Trichohepatoenteric Syndrome 2
Decreased circulating iron concentration, Failure to thrive, Trichorrhexis nodosa, Villous atroph... OMIM:614602
Birt-Hogg-Dubé Syndrome
Emphysema, Medullary thyroid carcinoma, Multiple lipomas, Pneumothorax, Parathyroid adenoma, Pulm... ORPHA:122
Hypocomplementemic Urticarial Vasculitis
Ascites, Emphysema, Episcleritis, Splenomegaly, Skin rash, Pleural effusion, Hematuria, Inflammat... ORPHA:36412
Secondary Short Bowel Syndrome
Central hypothyroidism, Volvulus, Failure to thrive, Cholestasis, Villous atrophy, Abnormal small... ORPHA:95427
Hyperinsulinism Due To Hnf1A Deficiency
Hypoglycemic seizures, Small for gestational age, Maturity-onset diabetes of the young, Hyperinsu... ORPHA:324575
Morbid Obesity And Spermatogenic Failure
Insulin resistance, Decreased HDL cholesterol concentration, Increased LDL cholesterol concentrat... OMIM:615703
Cholesteryl Ester Storage Disease
Hepatic bridging fibrosis, Acute hepatic failure, Adrenal calcification, Hepatosplenomegaly, Hype... OMIM:278000
Activated Pi3K-Delta Syndrome
Pneumonia, Recurrent tonsillitis, Failure to thrive, Recurrent otitis media, Splenomegaly, Chroni... ORPHA:397596
Lipe-Related Familial Partial Lipodystrophy
Insulin resistance, Decreased adiponectin level, Increased adipose tissue around the neck, Insuli... ORPHA:435660
Nphp3-Related Meckel-Like Syndrome
Multicystic kidney dysplasia, Intestinal malrotation, Abnormal biliary tract morphology, Abnormal... ORPHA:3032
Diarrhea 7, Protein-Losing Enteropathy Type
Hypoalbuminemia, Protein-losing enteropathy, Failure to thrive, Villous atrophy, Hyperlipidemia, ... OMIM:615863
Macrocephaly-Intellectual Disability-Autism Syndrome
Penile freckling, Intestinal polyposis, Hepatic steatosis, Thyroid carcinoma, Multiple lipomas, A... ORPHA:210548
Primary Intestinal Lymphangiectasia
Hypoalbuminemia, Increased stool alpha1-antitrypsin concentration, Peritoneal effusion, Intestina... ORPHA:90362
3-Hydroxy-3-Methylglutaryl-Coa Synthase-2 Deficiency
Increased circulating free fatty acid level, Elevated circulating hepatic transaminase concentrat... OMIM:605911
Alpha-Heavy Chain Disease
Alopecia, Ascites, Abnormal small intestine morphology, Splenomegaly, Hypocalcemia, Anemia, Lymph... ORPHA:100025
T-Cell Immunodeficiency With Thymic Aplasia
Abnormally low T cell receptor excision circle level, Recurrent pneumonia, Eczematoid dermatitis,... OMIM:242700
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome
Insulin resistance, Male hypogonadism, Elevated circulating hepatic transaminase concentration, H... OMIM:615381
Syndromic Diarrhea
Lymphopenia, Colitis, Hepatoblastoma, Cirrhosis, Brittle hair, Hepatomegaly, Polycystic kidney dy... ORPHA:84064
Cutis Laxa, Autosomal Recessive, Type Ic
Accessory spleen, Morgagni diaphragmatic hernia, Gastroesophageal reflux, Recurrent pneumonia, Pe... OMIM:613177
Rajab Interstitial Lung Disease With Brain Calcifications 1
Cholestasis, Slender build, Pancytopenia, Hepatic steatosis, Cirrhosis, Unconjugated hyperbilirub... OMIM:613658
Akt2-Related Familial Partial Lipodystrophy
Insulin resistance, Decreased adiponectin level, Insulin-resistant diabetes mellitus, Increased i... ORPHA:79085
Diarrhea 12, With Microvillus Atrophy
Villous atrophy, Respiratory tract infection, Microvillar PAS-positive secretory granules, Microv... OMIM:619445
Lipodystrophy, Familial Partial, Type 2
Increased adipose tissue around the neck, Insulin-resistant diabetes mellitus, Hyperglycemia, Hyp... OMIM:151660
Sarcoidosis
Abnormal lymph node morphology, Abnormal pleura morphology, Weight loss, Abnormal nasal mucosa mo... ORPHA:797
Berry Aneurysm, Cirrhosis, Pulmonary Emphysema, And Cerebral Calcification
Emphysema, Hepatic failure, Cirrhosis, Portal hypertension OMIM:210050
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Diffuse pancreatic islet hyperplasia, Type I diabetes mellitus, Hypoglycemic seizures, Hyperinsul... ORPHA:276575
Refractory Celiac Disease
Hypoalbuminemia, Protein-losing enteropathy, Normocytic anemia, Elevated circulating hepatic tran... ORPHA:398063
Mhc Class Ii Deficiency 1
Recurrent upper respiratory tract infections, Chronic mucocutaneous candidiasis, Failure to thriv... OMIM:209920
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Congenital pulmonary airway malformation, Ileal atresia, Colonic atresia, Lymphopenia, Psoriasifo... OMIM:243150
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Increased circulating free fatty acid level, Elevated circulating hepatic transaminase concentrat... ORPHA:71212
Hypertriglyceridemia, Transient Infantile
Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Failure to thrive, Hep... OMIM:614480
Whipple Disease
Insulin resistance, Gastrointestinal hemorrhage, Uveitis, Mediastinal lymphadenopathy, Polydipsia... ORPHA:3452
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Diffuse pancreatic islet hyperplasia, Type I diabetes mellitus, Hypoglycemic seizures, Hyperinsul... ORPHA:276580
Parenteral Nutrition-Associated Cholestasis
Hepatic fibrosis, Cholelithiasis, Hepatic failure, Elevated circulating hepatic transaminase conc... ORPHA:567983
Perlman Syndrome
High, narrow palate, Abnormal pancreas morphology, Hyperinsulinemia, Inguinal hernia, Cryptorchid... ORPHA:2849
Lmna-Related Cardiocutaneous Progeria Syndrome
Alopecia universalis, Pulmonary carcinoid tumor, Premature graying of hair, Emphysema, Abnormalit... ORPHA:363618
Lymphoproliferative Syndrome, X-Linked, 2
Inflammation of the large intestine, Folliculitis, Aplastic anemia, Hepatitis, Hemophagocytosis, ... OMIM:300635
Acquired Generalized Lipodystrophy
Insulin resistance, Abnormal circulating lipid concentration, Insulin-resistant diabetes mellitus... ORPHA:79086
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Increased adipose tissue around the neck, Premature graying of hair, Reduced subcutaneous adipose... ORPHA:280365
Nocardiosis
Cellulitis, Lymphadenitis, Scleritis, Weight loss, Anorexia, Endocarditis, Cutaneous abscess, Ost... ORPHA:31204
Autoinflammatory-Pancytopenia Syndrome
Cholestatic liver disease, Hepatic fibrosis, Type I diabetes mellitus, Granuloma, Hemophagocytosi... OMIM:619858
Insulin-Resistance Syndrome Type B
Insulin-resistant diabetes mellitus, Hyperglycemia, Hyperinsulinemia, Type II diabetes mellitus, ... ORPHA:2298
Glycogen Storage Disease Vi
Elevated circulating hepatic transaminase concentration, Hypoglycemia, Failure to thrive in infan... OMIM:232700
Immunodeficiency 85 And Autoimmunity
Decreased proportion of memory B cells, Reduced natural killer cell count, Eczematoid dermatitis,... OMIM:619510
Cutis Laxa-Marfanoid Syndrome
Emphysema, Flexion contracture, Congenital diaphragmatic hernia ORPHA:171719
Cholestasis, Progressive Familial Intrahepatic, 10
Hypoalbuminemia, Portal fibrosis, Failure to thrive, Increased total bilirubin, Elevated circulat... OMIM:619868
Idiopathic Bronchiectasis
Emphysema, Respiratory tract infection, Cachexia, Acute infectious pneumonia, Recurrent lower res... ORPHA:60033
Cidec-Related Familial Partial Lipodystrophy
Decreased adiponectin level, Insulin-resistant diabetes mellitus, Hepatic steatosis, Polycystic o... ORPHA:435651
Netherton Syndrome
Allergic rhinitis, Brittle scalp hair, Sparse eyebrow, Eczematoid dermatitis, Failure to thrive, ... OMIM:256500
Hyperinsulinism Due To Ucp2 Deficiency
Diffuse pancreatic islet hyperplasia, Hypoglycemic seizures, Recurrent hypoglycemia, Hypoketotic ... ORPHA:276556
Lipodystrophy, Congenital Generalized, Type 1
Elevated circulating hepatic transaminase concentration, Umbilical hernia, Decreased serum leptin... OMIM:608594
Immunodeficiency 87 And Autoimmunity
Cholestasis, Lymphopenia, Decreased CD4:CD8 ratio, Hepatic steatosis, Elevated circulating alanin... OMIM:619573
Ddost-Cdg
Elevated circulating hepatic transaminase concentration, Gastroesophageal reflux, Failure to thri... ORPHA:300536
Sarcoidosis, Susceptibility To, 1
Inflammation of the large intestine, Mediastinal lymphadenopathy, Enlarged lacrimal glands, Emphy... OMIM:181000
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Inflammatory abnormality of the skin, Lymphopenia, Hepatosplenomegaly, Abnormal intestine morphol... ORPHA:391487
Osteootohepatoenteric Syndrome
Hepatic fibrosis, Portal fibrosis, Failure to thrive, Cholestasis, Increased intestinal transit t... OMIM:619377
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Recurrent upper respiratory tract infections, Abnormal pulmonary interstitial morphology, Hemopha... OMIM:613101
Galactokinase Deficiency
Small for gestational age, Failure to thrive, Hypoglycemia, Hepatosplenomegaly, Hyperinsulinemia,... ORPHA:79237
Allergic Bronchopulmonary Aspergillosis
Emphysema, Abnormal eosinophil morphology, Weight loss, Bronchiectasis ORPHA:1164
Bronchopulmonary Dysplasia
Small for gestational age, Atelectasis, Emphysema, Abnormal lung morphology, Pulmonary sequestrat... ORPHA:70589
Niemann-Pick Disease, Type B
Sea-blue histiocytosis, Increased LDL cholesterol concentration, Splenomegaly, Hypertriglyceridem... OMIM:607616
Porphyria Cutanea Tarda
Portal inflammation, Hepatic steatosis, Decreased circulating hepcidin concentration, Cutaneous a... ORPHA:101330
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Abnormal circulating insulin concentration, Hypoketotic hypoglycemia, Large for gestational age, ... ORPHA:293964
Cutis Laxa, Neonatal, With Marfanoid Phenotype
Emphysema, Congenital diaphragmatic hernia OMIM:614100
Graft Versus Host Disease
Inflammatory abnormality of the skin, Hemophagocytosis, Hepatosplenomegaly, Hyperbilirubinemia, I... ORPHA:39812
Lipodystrophy, Familial Partial, Type 1
Increased subcutaneous truncal adipose tissue, Increased adipose tissue around the neck, Increase... OMIM:608600
Immunodeficiency 82 With Systemic Inflammation
Anoperineal fistula, Pustular rash, Recurrent otitis media, Follicular hyperplasia, Weight loss, ... OMIM:619381
Lipodystrophy, Congenital Generalized, Type 2
Hyperinsulinemia, Type II diabetes mellitus, Reduced subcutaneous adipose tissue, Hepatic steatos... OMIM:269700
Congenital Tufting Enteropathy
Cholestatic liver disease, Failure to thrive, Abnormal large intestinal mucosa morphology, Villou... ORPHA:92050
Cholesteryl Ester Storage Disease
Hepatic failure, Adrenal calcification, Splenomegaly, Cirrhosis, Hypercholesterolemia, Hypertrigl... ORPHA:75234
Immunodeficiency 51
Pneumonia, Folliculitis, Chronic mucocutaneous candidiasis, Eczematoid dermatitis, Cutaneous absc... OMIM:613953
Diarrhea 5, With Tufting Enteropathy, Congenital
Failure to thrive, Villous atrophy, Arthritis, Crypt hyperplasia, Small for gestational age OMIM:613217
Pearson Marrow-Pancreas Syndrome
Sideroblastic anemia, Pancytopenia, Hyperbilirubinemia, Neutropenia, Anorexia, Hepatomegaly, 3-Me... OMIM:557000
Mantle Cell Lymphoma
Splenomegaly, Abnormality of the gastrointestinal tract, Weight loss, Lymphadenopathy, Anorexia ORPHA:52416
Lipodystrophy, Familial Partial, Type 5
Decreased adiponectin level, Hepatic steatosis, Lipodystrophy, Hypertriglyceridemia, Hepatomegaly... OMIM:615238
Gaucher Disease Type 2
Recurrent respiratory infections, Splenomegaly, Hepatomegaly, Flexion contracture, Dysphagia ORPHA:77260
Rajab Interstitial Lung Disease With Brain Calcifications 2
Hypoalbuminemia, Elevated circulating hepatic transaminase concentration, Microcytic anemia, Hypo... OMIM:619013
Mandibuloacral Dysplasia With Type A Lipodystrophy
Alopecia, Increased adipose tissue around the neck, Increased facial adipose tissue, Elbow flexio... OMIM:248370
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7
Type I diabetes mellitus, Premature graying of hair, Emphysema, Lymphopenia, Portal hypertension,... OMIM:620365
Trichohepatoenteric Syndrome 1
Cholestasis, Cirrhosis, Brittle hair, Curly hair, Hepatomegaly, Jaundice, Sparse hair, Hypospadia... OMIM:222470
Immunodeficiency 27A
Hypoalbuminemia, Pneumonia, Anorexia, Hepatosplenomegaly, Leukocytosis, Splenomegaly, Increased i... OMIM:209950
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease
Alopecia, Pituitary adenoma, Increased circulating cortisol level, Neuroendocrine neoplasm, Hyper... ORPHA:189427
Hypophosphatasia
Emphysema, Failure to thrive in infancy, Anemia, Hypercalcemia ORPHA:436
Mpi-Cdg
Hypoalbuminemia, Hepatic fibrosis, Protein-losing enteropathy, Gastrointestinal hemorrhage, Failu... ORPHA:79319
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency
Inflammation of the large intestine, Psoriasiform dermatitis, Hepatomegaly, Recurrent lower respi... ORPHA:436159
Bloom Syndrome
Neoplasm of the colon, Stomach cancer, Abscess, Sparse eyelashes, Abnormal proportion of CD8-posi... ORPHA:125
Bile Acid Synthesis Defect, Congenital, 1
Intrahepatic cholestasis, Hepatic failure, Elevated circulating hepatic transaminase concentratio... OMIM:607765
Cholestasis-Lymphedema Syndrome
Gastrointestinal hemorrhage, Portal hypertension, Splenomegaly, Neonatal cholestatic liver diseas... ORPHA:1414
Homozygous 11P15-P14 Deletion Syndrome
Generalized aminoaciduria, Failure to thrive, Hypoglycemia, Hyperinsulinemia, Renal tubular dysfu... OMIM:606528
Immunodeficiency 48
Pneumonia, Eczematoid dermatitis, Failure to thrive, Abnormal B cell count, Splenomegaly, Impaire... OMIM:269840
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Hypocholesterolemia, Hypersplenism, Splenomegaly, Anemia, Thrombocytopenia, Hepatomegaly OMIM:610539
Lymphangioleiomyomatosis
Gastrointestinal hemorrhage, Chylothorax, Atelectasis, Abnormal urinary color, Ascites, Emphysema... ORPHA:538
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Cholestasis, Hepatic steatosis, Polycystic ovaries, Increased body weight, Myoglobinuria, Cirrhos... ORPHA:264580
Idiopathic Achalasia
Gastroesophageal reflux, Bronchitis, Decreased circulating prealbumin concentration, Weight loss,... ORPHA:930
Isolated Agammaglobulinemia
Cellulitis, Pneumonia, Abnormality of neutrophils, Failure to thrive, Abnormal lymphocyte morphol... ORPHA:229717
Cog4-Cdg
Recurrent upper respiratory tract infections, Elevated circulating hepatic transaminase concentra... ORPHA:263501
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant
Cellulitis, Splenomegaly, Recurrent sinopulmonary infections, Increased proportion of transitiona... OMIM:615513
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Protein-losing enteropathy, Hepatic failure, Ventriculomegaly, Hypertrichosis, Ascites, Pancreati... OMIM:235255
Sandhoff Disease
Failure to thrive, Splenomegaly, Abnormal glycosphingolipid metabolism, Hepatomegaly, Recurrent r... ORPHA:796
Donohue Syndrome
Postprandial hyperglycemia, Hepatic fibrosis, Precocious puberty, Long penis, Hypertrichosis, Cho... OMIM:246200
Alg9-Cdg
Bifid uvula, Periportal fibrosis, Gastroesophageal reflux, Hypertrichosis, Abnormal lung lobation... ORPHA:79328
Congenital Disorder Of Glycosylation, Type Id
Bifid uvula, Joint contracture of the hand, Arthrogryposis multiplex congenita, Failure to thrive... OMIM:601110
Charcot-Marie-Tooth Disease, Axonal, Type 2Ee
Mildly elevated creatine kinase, Elevated circulating hepatic transaminase concentration, Hepatic... OMIM:618400
Lipodystrophy, Familial Partial, Type 7
Sparse scalp hair, Reduced subcutaneous adipose tissue, Loss of subcutaneous adipose tissue in li... OMIM:606721
Combined Oxidative Phosphorylation Deficiency 52
Aminoaciduria, Hypoglycemia, Anorexia, Elevated circulating aspartate aminotransferase concentrat... OMIM:619386
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome
Emphysema, Respiratory tract infection, Chronic bronchitis, Weight loss, Honeycomb lung, Hypersen... ORPHA:79127
Combined Oxidative Phosphorylation Deficiency 34
Hepatic failure, Failure to thrive, Hypoglycemia, Elevated circulating thyroid-stimulating hormon... OMIM:617872
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Failure to thrive, Hypoglycemia, Elevated circulating aspartate aminotransferase concentration, D... OMIM:619048
Hyperinsulinemic Hypoglycemia, Familial, 2
Nesidioblastosis, Hypoglycemia, Large for gestational age, Pancreatic islet-cell hyperplasia, Hyp... OMIM:601820
Proteasome-Associated Autoinflammatory Syndrome 5
Failure to thrive in infancy, Skin rash, Splenomegaly, Hypertriglyceridemia, Hepatomegaly OMIM:619175
Hyperinsulinemic Hypoglycemia, Familial, 1
Hypoglycemic seizures, Large for gestational age, Hyperinsulinemic hypoglycemia, Pancreatic islet... OMIM:256450
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Inflammatory abnormality of the skin, Psoriasiform dermatitis, Abnormal intestine morphology, Cru... ORPHA:37042
Gastrointestinal Defects And Immunodeficiency Syndrome 2
Inflammation of the large intestine, Interstitial emphysema, Lymphopenia, Knee flexion contractur... OMIM:619708
Granulomatous Disease, Chronic, X-Linked
Cellulitis, Discoid lupus rash, Recurrent pneumonia, Lymphadenitis, Eczematoid dermatitis, Atelec... OMIM:306400
Dietary Iron Overload Disease
Hepatic bridging fibrosis, Hepatic fibrosis, Abnormal thyroid morphology, Hepatitis, Abnormal pan... ORPHA:139507
Obesity Due To Congenital Leptin Deficiency
Decreased serum estradiol, Recurrent upper respiratory tract infections, Insulin-resistant diabet... ORPHA:66628
Obesity And Hypopigmentation
Hyperinsulinemia, Obesity, Hepatic steatosis, Polyphagia, Red hair OMIM:620195
Short Chain Acyl-Coa Dehydrogenase Deficiency
Elevated circulating acylcarnitine concentration, Failure to thrive, Increased level of methylsuc... ORPHA:26792
Cerebrooculofacioskeletal Syndrome 1
Insulin resistance, Joint contracture of the hand, Recurrent pneumonia, Ventriculomegaly, Failure... OMIM:214150
Hepatoportal Sclerosis
Hypersplenism, Hyperbilirubinemia, Jaundice, Esophageal varix, Gastrointestinal hemorrhage, Ascit... ORPHA:64743
Pigmented Nodular Adrenocortical Disease, Primary, 4
Alopecia, Increased circulating cortisol level, Dorsocervical fat pad, Primary hypercortisolism, ... OMIM:615830
Obesity Due To Leptin Receptor Gene Deficiency
Decreased serum estradiol, Recurrent upper respiratory tract infections, Insulin-resistant diabet... ORPHA:179494
Hyperinsulinemic Hypoglycemia, Familial, 7
Hypoglycemia, Hyperinsulinemia, Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia,... OMIM:610021
Mandibuloacral Dysplasia With Type B Lipodystrophy
Alopecia, Insulin-resistant diabetes mellitus, Generalized lipodystrophy, Hyperglycemia, Decrease... OMIM:608612
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2
Hepatic steatosis, Cirrhosis, Hepatomegaly, High palate, Neonatal hypoglycemia, Failure to thrive... OMIM:619418
Autosomal Recessive Cutis Laxa Type 1
Recurrent pneumonia, Peripheral pulmonary artery stenosis, Multiple bladder diverticula, Urethral... ORPHA:90349
Immunodeficiency 40
Focal active colitis, Recurrent pneumonia, Eosinophilic granuloma, Recurrent otitis media, Elevat... OMIM:616433
Congenital Disorder Of Glycosylation, Type Iio
Cholestatic liver disease, Hepatic failure, Elevated circulating hepatic transaminase concentrati... OMIM:616828
Netherton Syndrome
Aminoaciduria, Sparse eyebrow, Eczematoid dermatitis, Fine hair, Abnormal hair morphology, Tricho... ORPHA:634
Insulinoma
Abnormality of the pancreatic islet cells, Neuroendocrine neoplasm, Pituitary prolactin cell aden... ORPHA:97279
Encephalopathy Due To Prosaposin Deficiency
Hepatomegaly, Recurrent respiratory infections, Splenomegaly ORPHA:139406
Hemochromatosis, Type 4
Increased circulating ferritin concentration, Glucose intolerance, Hepatic steatosis, Anemia, Cir... OMIM:606069
Citrullinemia Type Ii
Abnormal eating behavior, Hepatic steatosis, Hepatomegaly, Restlessness, Hypoproteinemia, Hyperac... ORPHA:247585
Alg6-Cdg
Hypoalbuminemia, Protein-losing enteropathy, Failure to thrive, Puberty and gonadal disorders, Ab... ORPHA:79320
Peroxisomal Acyl-Coa Oxidase Deficiency
Elevated circulating hepatic transaminase concentration, Hepatomegaly, Very long chain fatty acid... OMIM:264470
Emphysema, Hereditary Pulmonary
Emphysema, Chronic bronchitis OMIM:130700
Chylomicron Retention Disease
Hypoalbuminemia, Hypotriglyceridemia, Failure to thrive, Hypocholesterolemia, Accumulation of lip... OMIM:246700
Congenital Disorder Of Glycosylation, Type Iip
Elevated circulating hepatic transaminase concentration, Decreased liver function, Increased LDL ... OMIM:616829
Congenital Disorder Of Glycosylation, Type Ih
Hypoalbuminemia, Protein-losing enteropathy, Failure to thrive, Decreased liver function, Cholest... OMIM:608104
Congenital Bile Acid Synthesis Defect Type 2
Giant cell hepatitis, Hepatic failure, Elevated circulating hepatic transaminase concentration, F... ORPHA:79303
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Protein-losing enteropathy, Hepatic failure, Ventriculomegaly, Hypertrichosis, Ascites, Pancreati... ORPHA:1655
Fanconi Renotubular Syndrome 5
Aminoaciduria, Glycosuria, Emphysema, Hypophosphatemic rickets, Stage 5 chronic kidney disease, L... OMIM:618913
Zollinger-Ellison Syndrome
Increased circulating cortisol level, Pituitary prolactin cell adenoma, Increased urinary cortiso... ORPHA:913
Autoimmune Lymphoproliferative Syndrome, Type Iii
Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of memory ... OMIM:615559
Mhc Class I Deficiency 1
Nasal polyposis, Bronchiolitis, Emphysema, Recurrent bronchitis, Chronic sinusitis, Chronic otiti... OMIM:604571
Insulin Autoimmune Syndrome
Insulin resistance, Insulin-resistant diabetes mellitus, Reactive hypoglycemia, Weight loss, Nonk... ORPHA:411593
Autoimmune Disease, Multisystem, Infantile-Onset, 1
Type I diabetes mellitus, Recurrent upper respiratory tract infections, Eczematoid dermatitis, Ex... OMIM:615952
Multiple Endocrine Neoplasia Type 4
Increased circulating cortisol level, Pituitary prolactin cell adenoma, Increased urinary cortiso... ORPHA:276152
Diarrhea 2, With Microvillus Atrophy, With Or Without Cholestasis
Abnormal intestine morphology, Villous atrophy OMIM:251850
Alg12-Cdg
Recurrent hypoglycemia, Cryptorchidism, Low posterior hairline, Recurrent pharyngitis, Hypospadia... ORPHA:79324
Congenital Hyperinsulinism Due To Hnf4A Deficiency
Elevated circulating hepatic transaminase concentration, Glycosuria, Hyperinsulinemia, Hypophosph... ORPHA:263455
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Hepatic failure, Elevated circulating hepatic transaminase concentration, Reduced natural killer ... ORPHA:158057
Immunodeficiency 32B
Hypoalbuminemia, Pneumonia, Neutrophilia, Failure to thrive, Impaired oxidative burst, Splenomega... OMIM:226990
Werner Syndrome
Insulin resistance, Abnormal hair whorl, Gastrointestinal carcinoma, Chondrocalcinosis, Neoplasm ... ORPHA:902
Congenital Disorder Of Glycosylation, Type Iic
Cellulitis, Pneumonia, Reduction of neutrophil motility, Bronchiolitis, Periodontitis, Recurrent ... OMIM:266265
Immunodeficiency, Common Variable, 1
Pneumonia, Recurrent pneumonia, Abnormal T cell count, Recurrent otitis media, Splenomegaly, Recu... OMIM:607594
Medullary Thyroid Carcinoma
Elevated circulating calcitonin concentration, Pheochromocytoma, Medullary thyroid carcinoma, Wei... ORPHA:1332
Mucopolysaccharidosis-Plus Syndrome
Low posterior hairline, Neutropenia, Hepatomegaly, Nephrotic syndrome, Macrovesicular hepatic ste... OMIM:617303
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency
Splenomegaly, Decreased proportion of class-switched memory B cells, Glomerulonephritis, Coombs-p... OMIM:619375
Bronchogenic Cyst
Pneumonia, Pulmonary cyst, Bronchogenic cyst, Atelectasis, Abnormal stomach morphology, Abnormal ... ORPHA:2357
Cushing Syndrome Due To Ectopic Acth Secretion
Small cell lung carcinoma, Malignant gastrointestinal tract tumors, Sparse scalp hair, Increased ... ORPHA:99889
Combined Oxidative Phosphorylation Deficiency 16
Elevated circulating aspartate aminotransferase concentration, Elevated circulating alanine amino... OMIM:615395
Diarrhea 9
Villous atrophy, Failure to thrive OMIM:618168
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome
Primary gonadal insufficiency, Hepatic steatosis, Insulin-resistant diabetes mellitus, Hypertrigl... ORPHA:436182
Microcephaly, Short Stature, And Impaired Glucose Metabolism 1
Delayed thelarche, Dorsocervical fat pad, Low anterior hairline, Delayed puberty, Hyperinsulinemi... OMIM:616033
Felty Syndrome
Cellulitis, Synovitis, Weight loss, Neutropenia, Recurrent pharyngitis, Hepatomegaly, Chronic oti... ORPHA:47612
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Elevated circulating hepatic transaminase concentration, Elevated urinary 3-hydroxybutyric acid, ... ORPHA:42
Immunodeficiency 97 With Autoinflammation
Hemophagocytosis, Recurrent otitis media, Lymphopenia, Hepatosplenomegaly, Decreased proportion o... OMIM:619802
Whim Syndrome
Cellulitis, Pneumonia, Recurrent pneumonia, Recurrent upper respiratory tract infections, Lymphad... ORPHA:51636
Proprotein Convertase 1/3 Deficiency
Elevated circulating proinsulin concentration, Obesity, Villous atrophy, Reactive hypoglycemia, D... OMIM:600955
Hyperinsulinism Due To Insr Deficiency
Insulin resistance, Hypoglycemia, Fasting hyperinsulinemia, Recurrent hypoglycemia, Abnormal circ... ORPHA:263458
Immunodeficiency 89 And Autoimmunity
Crohn's disease, Pulmonary bulla, Hypochromic microcytic anemia, Pleural thickening, Elevated cir... OMIM:619632
Primary Ciliary Dyskinesia
Ventriculomegaly, Bronchiectasis, Nasal polyposis, Polysplenia, Atelectasis, Intestinal malrotati... ORPHA:244
Diabetes Mellitus, Ketosis-Prone
Insulin resistance, Diabetes mellitus, Beta-cell dysfunction OMIM:612227
Intellectual Developmental Disorder, Autosomal Recessive 41
Self-injurious behavior, Ventriculomegaly, Recurrent pneumonia, Splenomegaly, Hepatomegaly, High ... OMIM:615637
Oculoskeletodental Syndrome
Protein-losing enteropathy, Elbow flexion contracture, Splenomegaly, Hypocalcemia, Low anterior h... OMIM:618440
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Hepatitis, Recurrent otitis media, Lymphopenia, Splenomegaly, Respiratory tract infection, Autoim... ORPHA:444463
Zygomycosis
Cellulitis, Ileitis, Pustule, Acute infectious pneumonia, Neutropenia, Endocarditis, Gastrointest... ORPHA:73263
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Hyperinsulinemia, Hypoketotic hypoglycemia, Reactive hypoglycemia, Pancreatic islet-cell hyperpla... ORPHA:276608
Dpm1-Cdg
High, narrow palate, Hepatic fibrosis, Ventriculomegaly, Elevated circulating hepatic transaminas... ORPHA:79322
Familial Multiple Lipomatosis
Insulin resistance, Ventriculomegaly, Hyperlipidemia, Lipodystrophy, Functional intestinal obstru... ORPHA:199276
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Hepatic fibrosis, Portal fibrosis, Elevated circulating hepatic transaminase concentration, Failu... ORPHA:369
Meier-Gorlin Syndrome 6
Gastroesophageal reflux, Failure to thrive, Umbilical hernia, Emphysema, Decreased response to gr... OMIM:616835
Analbuminemia
Hypoalbuminemia, Increased LDL cholesterol concentration, Elevated circulating transferrin concen... OMIM:616000
Leptin Deficiency Or Dysfunction
Recurrent pneumonia, Recurrent upper respiratory tract infections, Hypogonadism, Decreased testic... OMIM:614962
Combined Immunodeficiency Due To Zap70 Deficiency
Lymphadenitis, Abnormal lymph node morphology, Decreased proportion of CD8-positive T cells, Hepa... ORPHA:911
Congenital Glucokinase-Related Hyperinsulinism
Fasting hyperinsulinemia, Recurrent hypoglycemia, Hypoketotic hypoglycemia, Abnormal circulating ... ORPHA:79299
Alpha-Mannosidosis
Recurrent respiratory infections, Type II diabetes mellitus, Inguinal hernia, Splenomegaly, Arthr... ORPHA:61
Leprechaunism
Facial hypertrichosis, Hyperinsulinemia, Reduced subcutaneous adipose tissue, Decreased body weig... ORPHA:508
Mitochondrial Neurogastrointestinal Encephalomyopathy
Gastroesophageal reflux, Elevated circulating hepatic transaminase concentration, Hypogonadotropi... ORPHA:298
Severe Combined Immunodeficiency, X-Linked
Pneumonia, Recurrent pneumonia, Failure to thrive, Skin rash, Hypoplasia of the thymus, Impaired ... OMIM:300400
Hyperinsulinemic Hypoglycemia, Familial, 6
Abnormality of the pancreatic islet cells, Asymptomatic hyperammonemia, Failure to thrive, Hyperi... OMIM:606762
Epidermodysplasia Verruciformis, Susceptibility To, 4
Emphysema, Increased proportion of exhausted T cells, Stomatitis OMIM:618307
Immunodeficiency 75 With Lymphoproliferation
Hepatosplenomegaly, Follicular hyperplasia, Decreased proportion of class-switched memory B cells... OMIM:619126
Citrullinemia, Type Ii, Adult-Onset
Hepatic fibrosis, Portal inflammation, Ballooning hepatocyte degeneration, Hepatic steatosis, Hyp... OMIM:603471
Lactose Intolerance, Adult Type
Decreased small intestinal mucosa lactase level OMIM:223100
Temple Syndrome
Precocious puberty, Bifid uvula, Maturity-onset diabetes of the young, Recurrent otitis media, De... OMIM:616222
19P13.12 Microdeletion Syndrome
Precocious puberty, Hypospadias, Ventriculomegaly, Self-injurious behavior, Obesity, Hyperlipidem... ORPHA:254346
Immunodeficiency 76
Recurrent pneumonia, Lymphopenia, Splenomegaly, Recurrent bronchiolitis, Lymphadenopathy, B lymph... OMIM:619164
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne
Cellulitis, Elbow flexion contracture, Microcytic anemia, Hepatosplenomegaly, Pancytopenia, Knee ... OMIM:604416
Peroxisome Biogenesis Disorder 3B
Failure to thrive, Hypocholesterolemia, Elevated circulating phytanic acid concentration, Hepatom... OMIM:266510
Melioidosis
Cellulitis, Pneumonia, Brain abscess, Hepatitis, Foot osteomyelitis, Parotitis, Cutaneous abscess... ORPHA:31202
Hemophagocytic Lymphohistiocytosis, Familial, 4
Conjunctivitis, Hemophagocytosis, Increased circulating ferritin concentration, Splenomegaly, Ski... OMIM:603552
Progeria-Short Stature-Pigmented Nevi Syndrome
Bifid uvula, Alopecia, Gastroesophageal reflux, Elevated circulating hepatic transaminase concent... ORPHA:2959
Plectin-Related Limb-Girdle Muscular Dystrophy R17
Bronchiolitis, Atelectasis, Elevated circulating creatine kinase concentration, Decreased cervica... ORPHA:254361
Pediatric-Onset Graves Disease
Elevated circulating hepatic transaminase concentration, Keratitis, Failure to thrive, Graves dis... ORPHA:525731
Fatty Liver Disease, Susceptibility To, 1
Hepatic steatosis OMIM:613282
Liver Disease, Severe Congenital
Dry hair, Portal inflammation, Recurrent otitis media, Hyperbilirubinemia, Hepatic steatosis, Pul... OMIM:619991
Fatty Liver Disease, Susceptibility To, 2
Hepatic steatosis OMIM:613387
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Periportal fibrosis, Gastroesophageal reflux, Decreased circulating carnitine concentration, Hepa... OMIM:201475
H Syndrome
Microcytic anemia, Hepatosplenomegaly, Psoriasiform dermatitis, Hernia, Recurrent pharyngitis, Hi... ORPHA:168569
Alstrom Syndrome
Insulin-resistant diabetes mellitus, Hyperglycemia, Hyperinsulinemia, Hepatic steatosis, Hepatome... OMIM:203800
Microlissencephaly
Pneumonia, Ventriculomegaly ORPHA:1083
Caspase 8 Deficiency
Pneumonia, Eczematoid dermatitis, Failure to thrive, Decreased CD4:CD8 ratio, Splenomegaly, Recur... OMIM:607271
Immunodeficiency 109 With Lymphoproliferation
Pancytopenia, Splenomegaly, Recurrent sinusitis, Absent circulating B cells, Generalized lymphade... OMIM:620282
Loeys-Dietz Syndrome 4
High, narrow palate, Bifid uvula, Broad uvula, Emphysema, Inguinal hernia, Eosinophilic infiltrat... OMIM:614816
Wilson Disease
Elevated circulating hepatic transaminase concentration, Hepatitis, Failure to thrive, Acute hepa... ORPHA:905
Fusariosis
Cellulitis, Abnormality of the spleen, Lymphopenia, Neutropenia, Granuloma, Osteomyelitis, Abnorm... ORPHA:228119
Congenital Lobar Emphysema
Emphysema ORPHA:1928
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Cellulitis, Lymphadenitis, Recurrent otitis media, Lymphopenia, Hepatosplenomegaly, Pancytopenia,... OMIM:618986
Hyperinsulinemic Hypoglycemia, Familial, 8
Elevated circulating thyroid-stimulating hormone concentration, Hypoglycemia, Hyperinsulinemia, H... OMIM:620211
Chronic Diarrhea Due To Glucoamylase Deficiency
Abnormal small intestinal mucosa morphology, Decreased small intestinal mucosa lactase level ORPHA:103907
Muscular Hypertonia, Lethal
Pneumonia, Umbilical hernia OMIM:254120
Meckel Diverticulum
Meckel diverticulum OMIM:155140
Blood Group, Cromer System
Protein-losing enteropathy OMIM:613793
Mitochondrial Complex Iv Deficiency, Nuclear Type 19
Protein-losing enteropathy, Recurrent respiratory infections, Hyperglycinemia, Lacticaciduria OMIM:619063
Omenn Syndrome
Pneumonia, Alopecia, Failure to thrive, Abnormal lymphocyte morphology, Leukocytosis, Splenomegal... ORPHA:39041
Immunodeficiency 91 And Hyperinflammation
Hemophagocytosis, Acute hepatic failure, Hepatosplenomegaly, Pulmonary hemorrhage, Neutrophilia, ... OMIM:619644
Agammaglobulinemia 4, Autosomal Recessive
Protein-losing enteropathy, Recurrent pneumonia, Recurrent otitis media, Chronic sinusitis, Neutr... OMIM:613502
Congenital Disorder Of Glycosylation, Type Iij
Hepatic failure, Elevated circulating hepatic transaminase concentration, Failure to thrive, Recu... OMIM:613489
Diarrhea 13
Hypoalbuminemia, Elevated circulating hepatic transaminase concentration, Failure to thrive, Recu... OMIM:620357
Isolated Congenital Hypoglossia/Aglossia
Microglossia, Weight loss, Cleft palate, Aspiration pneumonia ORPHA:141152
Short Stature Due To Primary Acid-Labile Subunit Deficiency
Insulin resistance, Decreased serum insulin-like growth factor 1, Delayed puberty, Truncal obesity ORPHA:140941
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type
Gastroesophageal reflux, Failure to thrive, Decreased liver function, Hepatic steatosis, Hypopigm... ORPHA:70472
Rabson-Mendenhall Syndrome
Insulin-resistant diabetes mellitus, Premature graying of hair, Reduced subcutaneous adipose tiss... ORPHA:769
Wolman Disease
Hepatic failure, Ascites, Adrenal calcification, Adrenal insufficiency, Splenomegaly, Hepatomegal... ORPHA:75233
Proteasome-Associated Autoinflammatory Syndrome 3
Elevated circulating hepatic transaminase concentration, Failure to thrive, Lymphopenia, Splenome... OMIM:617591
Congenital Disorder Of Glycosylation, Type Iir
Elevated circulating hepatic transaminase concentration, Micronodular cirrhosis, Decreased liver ... OMIM:301045
Atypical Werner Syndrome
Insulin-resistant diabetes mellitus, Premature graying of hair, Abnormal hair morphology, General... ORPHA:79474
Fabry Disease
Nephropathy, Abnormal circulating lipid concentration, Emphysema, Hyperlipidemia, Renal insuffici... ORPHA:324
Shigellosis
Microangiopathic hemolytic anemia, Cholestasis, Urethritis, Abscess, Anorexia, Abnormal blood ion... ORPHA:810
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Lipid accumulation in hepatocytes, Elevated circulating alanine aminotransferase concentration, H... OMIM:608836
Neonatal Marfan Syndrome
High, narrow palate, Emphysema, Decreased testicular size, Flexion contracture, Lipoatrophy, Smal... ORPHA:284979
Matthew-Wood Syndrome
Renal hypoplasia, Annular pancreas, Failure to thrive, Duodenal stenosis, Horseshoe kidney, Vesic... ORPHA:2470
Diarrhea 11, Malabsorptive, Congenital
Villous atrophy OMIM:618662
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Recurrent otitis media, Decreased CD4:CD8 ratio, Decreased proportion of CD4-positive helper T ce... OMIM:300853
Schaaf-Yang Syndrome
Gastroesophageal reflux, Failure to thrive in infancy, Hypogonadism, Obesity, Thick eyebrow, Cryp... OMIM:615547
Inflammatory Skin And Bowel Disease, Neonatal, 1
Failure to thrive, Villous atrophy, Duodenitis, Pustule, Erythroderma, Blepharitis OMIM:614328
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency
Pneumonia, Failure to thrive, Hypoglycemia, Abnormal circulating androgen level, Increased circul... ORPHA:90790
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia
Ventriculomegaly, Lymphopenia, Leukopenia, Splenomegaly, Hepatomegaly, Recurrent respiratory infe... OMIM:620210
Congenital Tracheomalacia
Pneumonia, Abnormal pulmonary artery morphology, Recurrent upper respiratory tract infections, Ga... ORPHA:95430
Lysinuric Protein Intolerance
Hemophagocytosis, Hepatosplenomegaly, Increased LDL cholesterol concentration, Hyperglycinemia, O... ORPHA:470
Bronchial Neuroendocrine Tumor
Pneumonia, Increased serum serotonin, Hepatic failure, Increased circulating cortisol level, Incr... ORPHA:97287
Mody
Nephropathy, Abnormal circulating insulin concentration, Abnormal oral glucose tolerance, Pancrea... ORPHA:552
Wilson Disease
Hypouricemia, Acute hepatic failure, Hyperbilirubinemia, Hepatic steatosis, Cirrhosis, Elevated c... OMIM:277900
Infantile Sialic Acid Storage Disease
Nephrotic syndrome, Fair hair, Failure to thrive, Ascites, Splenomegaly, Cardiomegaly, Hydrocepha... OMIM:269920
Hyperinsulinemic Hypoglycemia, Familial, 5
Hypoglycemic seizures, Elevated circulating insulin:C-peptide ratio, Hyperinsulinemic hypoglycemi... OMIM:609968
Legionnaires Disease
Cellulitis, Bone marrow hypocellularity, Abnormal lung morphology, Hepatitis, Anorexia, Lymphopen... ORPHA:549
Congenital Disorder Of Glycosylation, Type Ik
Hypogonadism, Splenomegaly, Joint contracture, Hepatomegaly, Flexion contracture OMIM:608540
Chylomicron Retention Disease
Elevated circulating hepatic transaminase concentration, Failure to thrive, Hypocholesterolemia, ... ORPHA:71
Autosomal Agammaglobulinemia
Cellulitis, Bronchiectasis, Hepatitis, Recurrent respiratory infections, Failure to thrive, Osteo... ORPHA:33110
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Keloids, Decreased testicular size, Hyperinsulinemia, Obesity, Type II diabetes mellitus, Cryptor... ORPHA:3085
Mucopolysaccharidosis, Type Iiic
Recurrent upper respiratory tract infections, Coarse hair, Hypertrichosis, Heparan sulfate excret... OMIM:252930
D-Glyceric Aciduria
Hyperglycinuria, Increased circulating free fatty acid level, Hyperglycinemia, Nonketotic hypergl... ORPHA:941
Mirage Syndrome
Aspiration pneumonia, Lymphopenia, Cryptorchidism, Decreased body weight, Achalasia, Hyperkalemia... OMIM:617053
Acrocephalopolydactylous Dysplasia
Hepatic fibrosis, Polysplenia, Ascites, Hypoplastic colon, Omphalocele, Pancreatic fibrosis, Hepa... OMIM:200995
Cerebral Dysgenesis, Neuropathy, Ichthyosis, And Palmoplantar Keratoderma Syndrome
Failure to thrive, Aspiration pneumonia OMIM:609528
Autoimmune Hepatitis
Gastrointestinal hemorrhage, Inflammation of the large intestine, Elevated circulating hepatic tr... ORPHA:2137
Immunodeficiency 52
Recurrent pneumonia, Increased proportion of gamma-delta T cells, Failure to thrive, Lymphopenia,... OMIM:617514
Familial Chylomicronemia Syndrome
Failure to thrive, Increased circulating chylomicron concentration, Hepatosplenomegaly, Hyperlipi... ORPHA:444490
Carnitine Deficiency, Systemic Primary
Decreased circulating carnitine concentration, Failure to thrive, Recurrent hypoglycemia, Dicarbo... OMIM:212140
Type 2 Diabetes Mellitus
Insulin resistance, Increased waist to hip ratio, Type II diabetes mellitus OMIM:125853
Hemochromatosis, Type 1
Alopecia, Elevated circulating hepatic transaminase concentration, Increased circulating iron con... OMIM:235200
Rigid Spine Syndrome
Elbow flexion contracture, Hamstring contractures, Pneumonia, Hip contracture ORPHA:97244
C1Q Deficiency 2
Discoid lupus rash, Atelectasis, Recurrent otitis media, Malar rash, Chilblains, Anemia, Arthriti... OMIM:620321
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair
Cholestasis, Decreased response to growth hormone stimulation test, Obesity, Hyperbilirubinemia, ... OMIM:609734
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea
Gastroesophageal reflux, Abnormal pulmonary interstitial morphology, Atelectasis, Hilar lymph nod... OMIM:620233
Lysosomal Acid Lipase Deficiency
Adrenal calcification, Hepatosplenomegaly, Hypersplenism, Xanthelasma, Fatal liver failure in inf... ORPHA:275761
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Inflammation of the large intestine, Periodontitis, Xanthelasma, Hepatic steatosis, Polycystic ov... ORPHA:79259
Aicardi-Goutieres Syndrome 9
Lateral ventricle dilatation, Hepatosplenomegaly, Hepatic steatosis, Chilblains, Weight loss, Glo... OMIM:619487
Autosomal Recessive Polycystic Kidney Disease
Cholestasis, Hepatosplenomegaly, Hypersplenism, Congenital hepatic fibrosis, Increased serum bile... ORPHA:731
Aspergillosis
Pneumonia, Keratitis, Hepatitis, Osteomyelitis, Pleural effusion, Infectious encephalitis, Abnorm... ORPHA:1163
Glycogen Storage Disease Ixa1
Elevated circulating hepatic transaminase concentration, Hypoglycemia, Splenomegaly, Hyperuricemi... OMIM:306000
Fanconi Anemia, Complementation Group W
Renal hypoplasia, Ventriculomegaly, Polysplenia, Decreased response to growth hormone stimulation... OMIM:617784
Magel2-Related Prader-Willi-Like Syndrome
Xerostomia, Absence of pubertal development, Type II diabetes mellitus, Cryptorchidism, Increased... ORPHA:398069
Congenital Disorder Of Glycosylation, Type Im
Alopecia, Inflammatory abnormality of the skin, Increased circulating free fatty acid level, Spar... OMIM:610768
Mitchell-Riley Syndrome
Meckel diverticulum, Annular pancreas, Anteriorly placed anus, Pancreatic hypoplasia, Intestinal ... OMIM:615710
Proteus Syndrome
Cerebriform connective tissue nevus, Splenomegaly, Multiple lipomas, Lipoma, Lymphangioma OMIM:176920
Meier-Gorlin Syndrome 1
Joint contracture of the hand, Gastroesophageal reflux, Failure to thrive, Emphysema, Breast hypo... OMIM:224690
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Dicarboxylic aciduria, Hepatic steatosis, Myoglobinuria, Tubulointerstitial nephritis, Hepatomega... ORPHA:228308
Axial Mesodermal Dysplasia Spectrum
Gastroesophageal reflux, Anorectal anomaly, Abnormality of the spleen, Abnormality of the liver, ... ORPHA:1834
Secondary Intestinal Lymphangiectasia
Hypoalbuminemia, Increased stool alpha1-antitrypsin concentration, Intestinal bleeding, Volvulus,... ORPHA:90363
Interstitial Lung And Liver Disease
Aminoaciduria, Hepatic fibrosis, Hepatic failure, Intraalveolar phospholipid accumulation, Failur... OMIM:615486
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency
Hypermethioninemia, Homocystinuria, Failure to thrive, Inguinal hernia, Hepatic steatosis, Pancre... OMIM:236200
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial
Hepatic failure, Impaired gluconeogenesis, Hepatic steatosis, Hypoglycemia OMIM:261650
Growth Delay-Intellectual Disability-Hepatopathy Syndrome
Hepatic fibrosis, Hepatic failure, Elevated circulating hepatic transaminase concentration, Chole... ORPHA:541423
Trimethylaminuria
Recurrent pneumonia, Splenomegaly, Trimethylaminuria, Neutropenia, Anemia OMIM:602079
Esophageal Atresia
Esophagitis, Abnormal gastrointestinal tract morphology, Oral aversion, Dysphagia, Duodenal atres... ORPHA:1199
Aredyld Syndrome
Type I diabetes mellitus, Sparse body hair, Abnormal dental enamel morphology, Abnormality of the... ORPHA:1133
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency
Allergic rhinitis, Rheumatoid arthritis, Recurrent otitis media, Psoriasiform dermatitis, Recurre... ORPHA:183675
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Pneumonia, Recurrent pneumonia, Hepatitis, Failure to thrive secondary to recurrent infections, L... ORPHA:169160
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Increased urinary glycerol, Cholestasis, Hepatosplenomegaly, Hyperbilirubinemia, Increased LDL ch... ORPHA:247598
Adrenomyodystrophy
Failure to thrive, Megacystis, Primary adrenal insufficiency, Hepatic steatosis, Abnormal intesti... ORPHA:977
Eosinophilic Gastroenteritis
Hypoalbuminemia, Protein-losing enteropathy, Hematochezia, Allergic rhinitis, Atopic dermatitis, ... ORPHA:2070
Autosomal Dominant Severe Congenital Neutropenia
Cellulitis, Pneumonia, Periodontitis, Aplastic anemia, Lymphopenia, Recurrent aphthous stomatitis... ORPHA:486
Hereditary Motor And Sensory Neuropathy, Okinawa Type
Aspiration pneumonia, Dysphagia, Abnormal glucose homeostasis, Elevated circulating creatine kina... ORPHA:90117
Immunodeficiency, Common Variable, 2
Recurrent pneumonia, Abnormal T cell count, Recurrent otitis media, Splenomegaly, Recurrent sinus... OMIM:240500
Brucellosis
Arteritis, Sacroiliac arthritis, Hypersplenism, Knee osteoarthritis, Weight loss, Glomerulonephri... ORPHA:1304
Temple Syndrome
Precocious puberty, Bifid uvula, Recurrent hypoglycemia, Decreased response to growth hormone sti... ORPHA:254516
Cyclic Neutropenia
Cellulitis, Recurrent tonsillitis, Periodontitis, Cervical lymphadenopathy, Lymphopenia, Cyclic n... ORPHA:2686
Short-Rib Thoracic Dysplasia 12
Periportal fibrosis, Pulmonary hypoplasia, Renal hypoplasia, Atelectasis, Hamartoma of tongue, In... OMIM:269860
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Recurrent otitis media, Lymphopenia, Hepatosplenomegaly, Pancytopenia, Erythema nodosum, Elevated... OMIM:615688
Aicardi-Goutieres Syndrome 7
Pancytopenia, Hepatic steatosis, Chilblains, Weight loss, Hepatomegaly, Nephrotic syndrome, Recur... OMIM:615846
Insulinomatosis And Diabetes Mellitus
Insulinoma, Multiple pancreatic beta-cell adenomas, Type II diabetes mellitus, Hyperinsulinemic h... OMIM:147630
Tetraamelia Syndrome 1
Congenital diaphragmatic hernia, Adrenal gland agenesis, Urethral atresia, Hydrocephalus, Aspleni... OMIM:273395
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Atrophic gastritis, Recurrent upper respiratory tract infections, Eczematoid dermatitis, Lymphope... OMIM:616100
Focal Dermal Hypoplasia
Alopecia, Gastroesophageal reflux, Multicystic kidney dysplasia, Camptodactyly of finger, Umbilic... ORPHA:2092
Autosomal Dominant Cutis Laxa
Unilateral renal agenesis, Peripheral pulmonary artery stenosis, Bronchiolitis, Small bowel diver... ORPHA:90348
Congenital Bile Acid Synthesis Defect Type 1
Gastrointestinal hemorrhage, Elevated circulating hepatic transaminase concentration, Failure to ... ORPHA:79301
Poems Syndrome
Visceromegaly, Polycythemia, Increased circulating prolactin concentration, Hypertrichosis, Ascit... ORPHA:2905
Coproporphyria, Hereditary
Increased fecal coproporphyrin 3, Elevated urinary coproporphyrin level, Increased urinary porpho... OMIM:121300
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Recurrent pneumonia, Recurrent tonsillitis, Lymphadenitis, Eczematoid dermatitis, Granuloma, Anal... OMIM:618935
Griscelli Syndrome
Silver-gray hair, Bone marrow hypocellularity, Hepatitis, White hair, Premature graying of hair, ... ORPHA:381
Shwachman-Diamond Syndrome
Aplastic anemia, Hypopituitarism, Pancytopenia, Increased serum bile acid concentration, Impaired... ORPHA:811
Cutis Laxa, Autosomal Recessive, Type Ia
Peripheral pulmonary artery stenosis, Umbilical hernia, Emphysema, Inguinal hernia, Congenital di... OMIM:219100
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Pneumonia, Abnormally low T cell receptor excision circle level, Recurrent upper respiratory trac... OMIM:602450
Hyperinsulinemic Hypoglycemia, Familial, 3
Hypoglycemic seizures, Diabetes mellitus, Hyperinsulinemic hypoglycemia OMIM:602485
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Fluctuating splenomegaly, Recurrent otitis media, Autoimmune hemolytic anemia, Lymphadenopathy, N... OMIM:619220
Granulomatous Disease, Chronic, Autosomal Recessive, 1
Cellulitis, Discoid lupus rash, Recurrent pneumonia, Lymphadenitis, Eczematoid dermatitis, Osteom... OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2
Cellulitis, Discoid lupus rash, Recurrent pneumonia, Lymphadenitis, Eczematoid dermatitis, Osteom... OMIM:233710
Prader-Willi Syndrome
Hyperinsulinemia, Frontal upsweep of hair, Type II diabetes mellitus, Cryptorchidism, Polyphagia,... OMIM:176270
Cholestasis, Progressive Familial Intrahepatic, 12
Cholestasis, Elevated circulating aspartate aminotransferase concentration, Hyperbilirubinemia, S... OMIM:620010
Mitochondrial Complex I Deficiency, Nuclear Type 33
Hypospadias, Ventriculomegaly, Small for gestational age, Hypoglycemia, Aspiration pneumonia, Hyp... OMIM:618253
Congenital Disorder Of Glycosylation, Type Iil
Unilateral renal agenesis, Inflammation of the large intestine, Elevated circulating hepatic tran... OMIM:614576
Huntington Disease
Decreased body mass index, Abnormal circulating cholesterol concentration, Oral-pharyngeal dyspha... ORPHA:399
Farber Disease
Hepatic fibrosis, Hepatic failure, Elevated circulating hepatic transaminase concentration, Recur... ORPHA:333
Pearson Syndrome
Pancytopenia, Hepatic steatosis, Hypophosphatemia, Neutropenia, Hepatomegaly, Hypoparathyroidism,... ORPHA:699
Triokinase And Fmn Cyclase Deficiency Syndrome
Hypoalbuminemia, Microcytic anemia, Failure to thrive in infancy, Hepatic steatosis, Pancreatitis... OMIM:618805
Alström Syndrome
Chronic kidney disease, Testicular fibrosis, Frontal balding, Decreased circulating T4 concentrat... ORPHA:64
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Hypoalbuminemia, Depletion of mitochondrial DNA in liver, Hepatic failure, Periportal fibrosis, E... OMIM:251880
Pfapa Syndrome
Splenomegaly, Infectious encephalitis, Weight loss, Lymphadenopathy, Arthritis, Recurrent pharyng... ORPHA:42642
Granulomatous Disease, Chronic, Autosomal Recessive, 4
Cellulitis, Discoid lupus rash, Recurrent pneumonia, Lymphadenitis, Eczematoid dermatitis, Osteom... OMIM:233690
Galactosemia Iii
Aminoaciduria, Galactosuria, Failure to thrive, Splenomegaly, Hepatomegaly, Jaundice, Hypergalact... OMIM:230350
Neonatal Alloimmune Neutropenia
Pneumonia, Jaundice, Maternal diabetes, Neutropenia in presence of anti-neutropil antibodies ORPHA:464370
Fryns Syndrome
Joint contracture of the hand, Cryptorchidism, Anal atresia, Hypospadias, Duodenal atresia, Ompha... OMIM:229850
Immunodeficiency 114, Folate-Responsive
Atopic dermatitis, Increased circulating ferritin concentration, Lymphopenia, Splenomegaly, Megal... OMIM:620603
Maternal Uniparental Disomy Of Chromosome 6
Ventriculomegaly, Eczematoid dermatitis, Congenital adrenal hyperplasia, Inguinal hernia, Increas... ORPHA:96181
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Decreased proportion of memory B cells, Hepatosplenomegaly, Pulmonary hemorrhage, Pancytopenia, H... ORPHA:79124
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1
Hepatic fibrosis, Failure to thrive, Exocrine pancreatic insufficiency, Hepatic steatosis, Hepato... OMIM:616263
Body Mass Index Quantitative Trait Locus 19
Insulin resistance, Increased serum leptin, Hyperinsulinemia, Obesity, Hyperlipidemia, Polyphagia... OMIM:617885
Multiple Acyl-Coa Dehydrogenase Deficiency
Generalized aminoaciduria, Glutaric aciduria, Proximal tubulopathy, Elevated circulating glutaric... OMIM:231680
Digeorge Syndrome
Recurrent otitis media, Hepatic steatosis, Ovarian cyst, High palate, High, narrow palate, Cholel... OMIM:188400
Cronkhite-Canada Syndrome
Gastrointestinal carcinoma, Alopecia, Dystrophic toenail, Sparse body hair, Anorexia, Furrowed to... ORPHA:2930
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Failure to thrive, Recurrent otitis media, Decreased CD4:CD8 ratio, Splenomegaly, Autoimmune hemo... OMIM:618495
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
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)
Recurrent hypoglycemia, Cholestasis, Acute hepatic failure, Hepatic steatosis, Cirrhosis, Elevate... OMIM:256810
Lymphoproliferative Syndrome, X-Linked, 1
Hypoalbuminemia, Hepatic failure, Abnormal T cell count, Aplastic anemia, Hemophagocytosis, Pancy... OMIM:308240
Grfoma
Increased circulating cortisol level, Increased circulating prolactin concentration, Intestinal o... ORPHA:97261
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis
Allergic rhinitis, Failure to thrive, Exocrine pancreatic insufficiency, Splenomegaly, Skin rash,... OMIM:612714
Cholestasis, Progressive Familial Intrahepatic, 8
Hepatic bridging fibrosis, Hepatic fibrosis, Cholestasis, Elevated circulating aspartate aminotra... OMIM:619662
Omenn Syndrome
Pneumonia, Alopecia, Severe B lymphocytopenia, Failure to thrive, Splenomegaly, Hypoplasia of the... OMIM:603554
Short Syndrome
Insulin resistance, Insulin-resistant diabetes mellitus, Hyperglycemia, Glucose intolerance, Abse... OMIM:269880
Fryns Syndrome
Ventriculomegaly, Gastroesophageal reflux, Multicystic kidney dysplasia, Intestinal malrotation, ... ORPHA:2059
Immunodeficiency 54
Reduced natural killer cell count, Failure to thrive, Adrenal insufficiency, Splenomegaly, Adreno... OMIM:609981
Immunodeficiency 64 With Lymphoproliferation
Increased proportion autoreactive unresponsive CD21-/low B cells, Abnormal CD4:CD8 ratio, Failure... OMIM:618534
Ras-Associated Autoimmune Leukoproliferative Disorder
Leukemia, Pancytopenia, Splenomegaly, Follicular hyperplasia, Lymphocytosis, Neutropenia, Monocyt... OMIM:614470
Mucopolysaccharidosis, Type Ii
Recurrent pneumonia, Intestinal pseudo-obstruction, Umbilical hernia, Hypertrichosis, Recurrent o... OMIM:309900
Hurler-Scheie Syndrome
Splenomegaly, Hernia, Generalized hirsutism, Abnormality of the tonsils, Hepatomegaly, Rhinitis ORPHA:93476
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Premature adrenarche, Increased circulating prolactin concentration, Hyperglycemia, Polyphagia, R... ORPHA:293987
Systemic Sclerosis
Chronic kidney disease, Intestinal bleeding, Glomerulonephritis, Albuminuria, Recurrent skin infe... ORPHA:90291
Immunodeficiency 7
Failure to thrive, Recurrent otitis media, Hypereosinophilia, Splenomegaly, Autoimmune hemolytic ... OMIM:615387
Adult-Onset Still Disease
Weight loss, Neutrophilia, Elevated circulating C-reactive protein concentration, Hepatomegaly, L... ORPHA:829
Multiple Endocrine Neoplasia Type 1
Increased serum serotonin, Increased circulating cortisol level, Pituitary prolactin cell adenoma... ORPHA:652
Sim1-Related Prader-Willi-Like Syndrome
Premature adrenarche, Xerostomia, Absence of pubertal development, Type II diabetes mellitus, Cry... ORPHA:398079
3-Methylglutaconic Aciduria Type 7
Bone marrow hypocellularity, Nephrocalcinosis, Elevated circulating hepatic transaminase concentr... ORPHA:445038
Scedosporiosis
Pneumonia, Abnormal jejunum morphology, Bronchitis, Osteomyelitis, Pleuritis, Arthralgia/arthriti... ORPHA:449280
Cholestasis, Progressive Familial Intrahepatic, 2
Intrahepatic cholestasis, Failure to thrive, Splenomegaly, Intermittent jaundice, Cirrhosis, Conj... OMIM:601847
Roifman Syndrome
Recurrent pneumonia, Prominent eyelashes, Eczematoid dermatitis, Recurrent otitis media, Splenome... OMIM:616651
Autoimmune Disease, Multisystem, With Facial Dysmorphism
Type I diabetes mellitus, Gastroesophageal reflux, Hepatitis, Failure to thrive in infancy, Hyper... OMIM:613385
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome
Intestinal malrotation, Splenomegaly, Omphalocele, Aqueductal stenosis, Pulmonary hypoplasia ORPHA:3035
Hyperinsulinemic Hypoglycemia, Familial, 4
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia OMIM:609975
Wolman Disease
Failure to thrive, Acute hepatic failure, Adrenal calcification, Splenomegaly, Hepatomegaly OMIM:620151
Coronary Artery Disease, Autosomal Dominant, 1
Obesity, Hypercholesterolemia, Diabetes mellitus OMIM:608320
Immunodeficiency 113 With Autoimmunity And Autoinflammation
Hematochezia, Minimal change glomerulonephritis, Intraalveolar phospholipid accumulation, Hepatit... OMIM:620565
Seckel Syndrome 10
Insulin resistance, Elevated circulating luteinizing hormone level, Glycosuria, Elevated circulat... OMIM:617253
Idiopathic Chronic Eosinophilic Pneumonia
Atopic dermatitis, Atelectasis, Hypereosinophilia, Pleural effusion, Leukocytosis, Abnormality of... ORPHA:2902
Potocki-Lupski Syndrome
Gastroesophageal reflux, Failure to thrive, Oral-pharyngeal dysphagia, Hypocholesterolemia, Hypot... OMIM:610883
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Recurrent hypoglycemia... ORPHA:79240
Immunodeficiency 102
Nodular regenerative hyperplasia of liver, Recurrent upper respiratory tract infections, Reduced ... OMIM:301082
Smith-Lemli-Opitz Syndrome
Recurrent otitis media, Hepatic steatosis, Cryptorchidism, Cirrhosis, Hepatomegaly, Hypospadias, ... OMIM:270400
Surfactant Metabolism Dysfunction, Pulmonary, 3
Crazy paving pattern, Reticular pattern on pulmonary HRCT, Usual interstitial pneumonia, Intraalv... OMIM:610921
Trappc11-Related Limb-Girdle Muscular Dystrophy R18
Hepatomegaly, Abnormal circulating creatine kinase concentration, Elevated circulating hepatic tr... ORPHA:369840
Meier-Gorlin Syndrome 4
Emphysema, Breast hypoplasia, Failure to thrive, Cryptorchidism OMIM:613804
Bacterial Toxic-Shock Syndrome
Cellulitis, Abscess, Glomerulonephritis, Recurrent skin infections, Elevated circulating creatini... ORPHA:36234
Cholestasis-Lymphedema Syndrome
Elevated circulating hepatic transaminase concentration, Erysipelas, Neonatal cholestatic liver d... OMIM:214900
Short Stature, Microcephaly, And Endocrine Dysfunction
Insulin resistance, Unilateral renal agenesis, Ventriculomegaly, Renal hypoplasia, Abnormal circu... OMIM:616541
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Gastroesophageal reflux, Elevated circulating hepatic transaminase concentration, Failure to thri... ORPHA:17
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form
Elevated circulating acylcarnitine concentration, Hepatic failure, Elevated circulating hepatic t... ORPHA:228305
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome
Nodular regenerative hyperplasia of liver, Ventriculomegaly, Elevated circulating hepatic transam... ORPHA:404454
Lymphoid Interstitial Pneumonia
Rheumatoid arthritis, Bronchiectasis, Eczematoid dermatitis, Failure to thrive, Abnormality of co... ORPHA:79128
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Joint contracture of the hand, Cryptorchidism, Pulmonary lymphangiectasia, Ectopic kidney, Rectal... OMIM:235510
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type
Hepatomegaly, Splenomegaly, Aplasia/Hypoplasia of the lungs ORPHA:2204
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Elevated circulating luteinizing hormone level, Cryptorchidism, Adrenal hyperplasia, Polycystic o... ORPHA:95699
Bardet-Biedl Syndrome 19
Renal hypoplasia, Hypogonadism, Obesity, Renal insufficiency, Hepatic steatosis, Hydronephrosis OMIM:615996
Hardikar Syndrome
Portal inflammation, Cholestasis, Hepatosplenomegaly, Cleft soft palate, Hypersplenism, Hyperbili... OMIM:301068
Mosaic Trisomy 9
Ventriculomegaly, Camptodactyly of finger, Intestinal malrotation, Abnormal lung lobation, Horses... ORPHA:99776
Viss Syndrome
Cleft soft palate, Contracture of the proximal interphalangeal joint of the 2nd toe, Celiac disea... OMIM:619472
Tularemia
Pneumonia, Brain abscess, Cutaneous abscess, Cervical lymphadenopathy, Abnormal nasopharyngeal ad... ORPHA:3392
Cortisone Reductase Deficiency 2
Insulin resistance, Premature pubarche, Obesity, Low tetrahydrocortisol (THF) plus 5-alpha-THF/te... OMIM:614662
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Lymphopenia, Hepatosplenomegaly, Cryptorchidism, Neutropenia, Hepatomegaly, Recurrent lower respi... OMIM:612541
Leptin Receptor Deficiency
Recurrent upper respiratory tract infections, Decreased response to growth hormone stimulation te... OMIM:614963
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation
Herpes simplex encephalitis, Recurrent otitis media, Hepatosplenomegaly, Lymphadenopathy, Increas... OMIM:618982
Burkitt Lymphoma
Gastrointestinal hemorrhage, Abnormal lymph node morphology, Abnormality of the ovary, Abnormalit... ORPHA:543
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Congenital shortened small intestine, Pulmonary lymphangiectasia, Anal atresia, Hypospadias, Duod... OMIM:265380
Heterotaxy, Visceral, 1, X-Linked
Total anomalous pulmonary venous return, Failure to thrive, Polysplenia, Abdominal situs inversus... OMIM:306955
Nodular Lymphocyte Predominant Hodgkin Lymphoma
Splenomegaly, Weight loss, Lymphadenopathy, Anorexia, Hepatomegaly ORPHA:86893
Glycogen Storage Disease Iv
Hepatic failure, Failure to thrive, Ascites, Hepatosplenomegaly, Abnormal circulating creatine ki... OMIM:232500
Abetalipoproteinemia
Hyperbilirubinemia, Acanthocytosis, Hepatic steatosis, Cirrhosis, Hepatomegaly, Hypotriglyceridem... ORPHA:14
Purine Nucleoside Phosphorylase Deficiency
Hypouricemia, Pneumonia, Recurrent upper respiratory tract infections, Decreased urinary urate, F... OMIM:613179
Mucopolysaccharidosis, Type Iiia
Recurrent upper respiratory tract infections, Coarse hair, Umbilical hernia, Heparan sulfate excr... OMIM:252900
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion
Premature adrenarche, Bulimia, Decreased circulating T4 concentration, Central adrenal insufficie... ORPHA:98793
Hypoglycemia, Leucine-Induced
Hyperinsulinemic hypoglycemia, Hypoglycemia OMIM:240800
Q Fever
Hepatosplenomegaly, Hematuria, Weight loss, Anorexia, Hepatomegaly, Endocarditis, Granuloma, Oste... ORPHA:781
Combined Immunodeficiency Due To Crac Channel Dysfunction
Pneumonia, Splenomegaly, Amelogenesis imperfecta, Lymphadenopathy, Thrombocytopenia, Hypocalcific... ORPHA:169090
Neonatal Severe Primary Hyperparathyroidism
Aminoaciduria, Abnormal circulating calcium-phosphate regulating hormone concentration, Abnormali... ORPHA:417
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 8
Nodular regenerative hyperplasia of liver, Hepatic failure, Usual interstitial pneumonia, Increas... OMIM:620367
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2
Premature adrenarche, Bulimia, Decreased circulating T4 concentration, Central adrenal insufficie... ORPHA:177904
Patent Ductus Venosus
Hypergalactosemia, Hyperammonemia, Hepatic steatosis, Decreased liver function OMIM:601466
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Postprandial hyperglycemia, Precocious puberty, Long penis, Insulin-resistant diabetes mellitus, ... OMIM:262190
3-Methylglutaconic Aciduria, Type Viib
Recurrent pneumonia, Leukopenia, Hepatic steatosis, 3-Methylglutaconic aciduria, Neutropenia, Thr... OMIM:616271
Cushing Disease
Increased circulating cortisol level, Pituitary corticotropic cell adenoma, Increased urinary cor... ORPHA:96253
Ellis Van Creveld Syndrome
Acute leukemia, Hydroureter, Failure to thrive, Abnormal hair morphology, Emphysema, Abnormality ... ORPHA:289
Distal Deletion 12Q
Obsessive-compulsive trait, Ectopic kidney, Polycystic kidney dysplasia, Duodenal atresia, High, ... ORPHA:96149
Proteus Syndrome
Pulmonary cyst, Generalized hirsutism, Cachexia, Pulmonary bulla, Abnormal subcutaneous fat tissu... ORPHA:744
Gm1 Gangliosidosis
Gastroesophageal reflux, Ganglioside accumulation, Failure to thrive, Camptodactyly of finger, As... ORPHA:354
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1
Premature adrenarche, Bulimia, Decreased circulating T4 concentration, Central adrenal insufficie... ORPHA:177901
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Ventriculomegaly, Failure to thrive, Atelectasis, Hepatocellular necrosis, Hepatosplenomegaly, Le... OMIM:618278
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections
Pulmonary cyst, Eosinophilic infiltration of the esophagus, High palate, Duodenal ulcer, Dysphagi... OMIM:147060
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15
Premature adrenarche, Bulimia, Decreased circulating T4 concentration, Central adrenal insufficie... ORPHA:98754
Prolidase Deficiency
Recurrent pneumonia, Eczematoid dermatitis, Failure to thrive, Elevated circulating aspartate ami... OMIM:170100
Babesiosis
Hepatic failure, Anorexia, Leukopenia, Renal insufficiency, Splenomegaly, Thrombocytopenia, Recur... ORPHA:108
Congenital Disorder Of Glycosylation, Type It
Bifid uvula, Intrahepatic cholestasis, Elevated circulating hepatic transaminase concentration, H... OMIM:614921
Infantile Liver Failure Syndrome 1
Elevated circulating hepatic transaminase concentration, Failure to thrive, Acute hepatic failure... OMIM:615438
Cholestasis, Progressive Familial Intrahepatic, 1
Cholelithiasis, Failure to thrive, Splenomegaly, Cirrhosis, Conjugated hyperbilirubinemia, Intrah... OMIM:211600
Fanconi Anemia, Complementation Group B
Ventriculomegaly, Aplastic anemia, Abnormal lung lobation, Hypogonadism, Tracheoesophageal fistul... OMIM:300514
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase
Recurrent pancreatitis, Splenomegaly, Hyperlipoproteinemia OMIM:118830
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
Immunodeficiency 115 With Autoinflammation
Hypoalbuminemia, Eczematoid dermatitis, Elevated haptoglobin level, Intestinal lymphangiectasia, ... OMIM:620632
D-Bifunctional Protein Deficiency
Fetal ascites, Elevated circulating hepatic transaminase concentration, Increased circulating ver... OMIM:261515
Hyperinsulinism-Hyperammonemia Syndrome
Increased urine alpha-ketoglutarate concentration, Asymptomatic hyperammonemia, Fasting hyperinsu... ORPHA:35878
Cebalid Syndrome
Highly arched eyebrow, Thick eyebrow, Congenital diaphragmatic hernia, Polyphagia, High palate OMIM:618774
Leishmaniasis
Hypoalbuminemia, Elevated circulating hepatic transaminase concentration, Pancytopenia, Leukopeni... ORPHA:507
Combined Oxidative Phosphorylation Deficiency 9
Failure to thrive, Elevated circulating aspartate aminotransferase concentration, Hepatic steatos... OMIM:614582
Hypothyroidism, Congenital, Nongoitrous, 8
Central hypothyroidism, Decreased circulating free T4 concentration, Attention deficit hyperactiv... OMIM:301033
Primary Biliary Cholangitis
Xanthelasma, Cirrhosis, Hepatomegaly, Jaundice, Celiac disease, Esophageal varix, Ascites, Abnorm... ORPHA:186
Carnitine Palmitoyltransferase I Deficiency
Elevated circulating hepatic transaminase concentration, Ketonuria, Dicarboxylic aciduria, Elevat... OMIM:255120
Microsporidiosis
Lymphadenitis, Urethritis, Abnormality of the spleen, Decreased proportion of CD4-positive helper... ORPHA:2552
Immunodeficiency 69
Hemophagocytosis, Failure to thrive, Increased circulating ferritin concentration, Hepatosplenome... OMIM:618963
Juvenile Polyposis Syndrome
Stomach cancer, Juvenile gastrointestinal polyposis, Multiple lipomas, Small intestinal polyposis... ORPHA:2929
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Bifid uvula, Sparse eyebrow, Gastroesophageal reflux, Progressive ventriculomegaly, Lateral ventr... ORPHA:500150
Immunodeficiency 11B With Atopic Dermatitis
Pneumonia, Atopic dermatitis, Ulcerative colitis, Colonic eosinophilia, Eosinophilia, Bronchiectasis OMIM:617638
Lymphoproliferative Syndrome 2
Recurrent pneumonia, Aplastic anemia, Hemophagocytosis, Ascites, Hepatosplenomegaly, Pancytopenia... OMIM:615122
T-Cell Immunodeficiency With Thymic Aplasia
Pneumonia, Eczematoid dermatitis, Failure to thrive, Hypocalcemic tetany, Recurrent infection of ... ORPHA:83471
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs
Congenital pulmonary airway malformation, Bilateral lung agenesis, Congenital diaphragmatic herni... OMIM:611812
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome
Cellulitis, Uveitis, Erysipelas, Fasciitis, Leukocytosis, Splenomegaly, Intestinal obstruction, S... ORPHA:32960
Ciliary Dyskinesia, Primary, 25
Recurrent pneumonia, Gastroesophageal reflux, Polysplenia, Recurrent otitis media, Recurrent sinu... OMIM:615482
Follicular Lymphoma
Pleural effusion, Splenomegaly, Weight loss, Lymphadenopathy, Abnormal peritoneum morphology, Med... ORPHA:545
Thyroid Hormone Metabolism, Abnormal, 2
Elevated circulating rT3/T3 ratio, Elevated circulating reverse T3 concentration, Hypercholestero... OMIM:619855
Familial Hemophagocytic Lymphohistiocytosis
Cholestatic liver disease, Hypoalbuminemia, Elevated circulating hepatic transaminase concentrati... ORPHA:540
Jacobsen Syndrome
Bone marrow hypocellularity, Ventriculomegaly, Multicystic kidney dysplasia, Annular pancreas, Ec... ORPHA:2308
Facioscapulohumeral Muscular Dystrophy 3, Digenic
Aspiration pneumonia OMIM:619477
Dextrocardia
Meckel diverticulum, Abnormality of abdominal situs, Pancreatic hypoplasia, Abnormal lung lobatio... ORPHA:1666
Hydrolethalus Syndrome 1
Accessory spleen, Hypospadias, Abnormal lung lobation, Hydronephrosis, Adrenal gland dysgenesis, ... OMIM:236680
Short Syndrome
Insulin resistance, Alopecia, Abnormal dental enamel morphology, Inguinal hernia, Lipodystrophy, ... ORPHA:3163
Down Syndrome
Type II diabetes mellitus, Protruding tongue, Acute megakaryocytic leukemia, Neutrophilia, Leukem... ORPHA:870
Bardet-Biedl Syndrome 1
High, narrow palate, Hepatic fibrosis, Insulin resistance, Abnormality of the ovary, Decreased te... OMIM:209900
Sialidosis Type 2
Nephropathy, Umbilical hernia, Ascites, Inguinal hernia, Splenomegaly, Hepatomegaly, Flexion cont... ORPHA:87876
Mitochondrial Complex I Deficiency, Nuclear Type 11
Hepatomegaly, Macrovesicular hepatic steatosis, Failure to thrive OMIM:618234
Fanconi Anemia, Complementation Group F
Pneumonia, Bone marrow hypocellularity, Renal hypoplasia, Failure to thrive, Microphallus, Decrea... OMIM:603467
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency
Diffuse pancreatic islet hyperplasia, Increased circulating cortisol level, Recurrent hypoglycemi... ORPHA:79644
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Aggressive behavior, Hyperinsulinemia, Obesity, Polyphagia ORPHA:329249
Autosomal Dominant Hyper-Ige Syndrome Due To Stat3 Deficiency
Cellulitis, Eczematoid dermatitis, Atelectasis, Abnormal hair morphology, Osteomyelitis, Skin ras... ORPHA:2314
Marfan Syndrome
Pulmonary artery dilatation, Emphysema, Premature osteoarthritis, Reduced subcutaneous adipose ti... OMIM:154700
Selective Igm Deficiency
Cellulitis, Allergic rhinitis, Rheumatoid arthritis, Lymphadenitis, Decreased proportion of CD8-p... ORPHA:331235
Acute Interstitial Pneumonia
Reticulonodular pattern on pulmonary HRCT, Atelectasis, Interlobular septal thickening, Elevated ... ORPHA:79126
Bardet-Biedl Syndrome
Chronic kidney disease, Inflammation of the large intestine, Type II diabetes mellitus, Hepatic s... ORPHA:110
Combined Immunodeficiency, X-Linked
Pneumonia, Abnormal T cell count, Decreased proportion of CD8-positive T cells, Decreased proport... OMIM:312863
Combined Immunodeficiency Due To Dock8 Deficiency
Pneumonia, Atopic dermatitis, Recurrent respiratory infections, Recurrent sinusitis, B lymphocyto... ORPHA:217390
Congenital Disorder Of Glycosylation, Type Ie
High, narrow palate, Ankle flexion contracture, Elevated circulating hepatic transaminase concent... OMIM:608799
Progressive Familial Intrahepatic Cholestasis
Failure to thrive, Cholestasis, Splenomegaly, Hypocalcemia, Hepatomegaly, Jaundice ORPHA:172
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic
Hepatic failure, Ketonuria, Increased hepatic echogenicity, Hypoglycemia, Hepatic steatosis, Low ... OMIM:261680
Obesity Due To Sim1 Deficiency
Hyperinsulinemia, Glucose intolerance, Obesity, Polyphagia, Attention deficit hyperactivity disorder ORPHA:369873
Galactose Epimerase Deficiency
Aminoaciduria, Splenomegaly, Weight loss, Hepatomegaly, Jaundice ORPHA:79238
Proteasome-Associated Autoinflammatory Syndrome 1
Premature graying of hair, Recurrent otitis media, Microcytic anemia, Flexion contracture of fing... OMIM:256040
Sotos Syndrome
Small cell lung carcinoma, Cryptorchidism, Hip contracture, Acute lymphoblastic leukemia, Hypospa... ORPHA:821
Bile Acid Synthesis Defect, Congenital, 3
Hepatic bridging fibrosis, Hematochezia, Intrahepatic cholestasis, Hepatic failure, Hepatitis, Fa... OMIM:613812
Mixed Connective Tissue Disease
Nephropathy, Xerostomia, Hepatomegaly, Gastrointestinal hemorrhage, Gastroesophageal reflux, Alop... ORPHA:809
Mitochondrial Complex Iv Deficiency, Nuclear Type 6
Hepatic steatosis OMIM:615119
Fanconi-Bickel Syndrome
Nephropathy, Hypophosphatemia, Elevated circulating alanine aminotransferase concentration, Hepat... ORPHA:2088
Gaucher Disease Type 1
Hepatosplenomegaly, Hypersplenism, Pancytopenia, Hematuria, Cirrhosis, Anorexia, Hepatomegaly, El... ORPHA:77259
Chronic Granulomatous Disease
Pyloric stenosis, Abnormality of neutrophils, Eczematoid dermatitis, Splenomegaly, Otitis media, ... ORPHA:379
Low Phospholipid-Associated Cholelithiasis
Intrahepatic cholestasis, Cholelithiasis, Biliary cirrhosis, Elevated circulating hepatic transam... ORPHA:69663
T-Cell Lymphoma, Subcutaneous Panniculitis-Like
Hemophagocytosis, Increased circulating ferritin concentration, Pancytopenia, Splenomegaly, Hyper... OMIM:618398
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Cholestatic liver disease, Giant cell hepatitis, Nephropathy, Elevated circulating hepatic transa... OMIM:208085
Tyrosinemia Type 1
Generalized aminoaciduria, Acute hepatic failure, Splenomegaly, Hepatomegaly, Hepatocellular carc... ORPHA:882
Acanthosis Nigricans With Muscle Cramps And Acral Enlargement
Insulin resistance OMIM:200170
Hemochromatosis, Type 2B
Hepatic fibrosis, Increased circulating iron concentration, Elevated circulating hepatic transami... OMIM:613313
Typhoid
Gastrointestinal hemorrhage, Skin rash, Splenomegaly, Infectious encephalitis, Hepatomegaly, Abno... ORPHA:99745
Infantile Osteopetrosis With Neuroaxonal Dysplasia
Pneumonia, Ventriculomegaly ORPHA:85179
Isolated Biliary Atresia
Cholestasis, Hypopituitarism, Xanthelasma, Severe failure to thrive, Cirrhosis, Hepatomegaly, Jau... ORPHA:30391
Niemann-Pick Disease, Type A
Failure to thrive, Sea-blue histiocytosis, Ascites, Elevated circulating aspartate aminotransfera... OMIM:257200
Immunodeficiency 47
Hepatic bridging fibrosis, Hepatic fibrosis, Accessory spleen, Elevated circulating hepatic trans... OMIM:300972
Prader-Willi Syndrome
Premature adrenarche, Periodontitis, Xerostomia, Central adrenal insufficiency, Cryptorchidism, P... ORPHA:739
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Hypoalbuminemia, Hepatic failure, Elevated circulating hepatic transaminase concentration, Failur... ORPHA:367
Neutral Lipid Storage Disease With Myopathy
Elevated circulating hepatic transaminase concentration, Chronic pancreatitis, Splenomegaly, Hepa... OMIM:610717
Gitelman Syndrome
Type II diabetes mellitus, Parathyroid adenoma, Urinary incontinence, Tubulointerstitial nephriti... ORPHA:358
Immunodeficiency 60 And Autoimmunity
Decreased proportion of memory B cells, Ulcerative colitis, Pancytopenia, Splenomegaly, Crohn's d... OMIM:618394
Autoinflammatory Disease, Familial, Behcet-Like 3
Ileitis OMIM:618287
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14
Precocious puberty, Bifid uvula, Maturity-onset diabetes of the young, Recurrent otitis media, Ob... ORPHA:96184
Cimdag Syndrome
Cholelithiasis, Hypogonadism, Microvesicular hepatic steatosis, Lipodystrophy, Hepatomegaly OMIM:619273
Immunodeficiency 10
Recurrent pneumonia, Hypoglycemia, Recurrent otitis media, Splenomegaly, Autoimmune hemolytic ane... OMIM:612783
Ciliary Dyskinesia, Primary, 1
Pneumonia, Nasal polyposis, Atelectasis, Communicating hydrocephalus, Recurrent bronchitis, Chron... OMIM:244400
Muckle-Wells Syndrome
Nephropathy, Nephrotic syndrome, Camptodactyly of finger, Recurrent aphthous stomatitis, Episcler... ORPHA:575
Duodenal Atresia
Abnormality of the pulmonary artery, Annular pancreas, Duodenal atresia, Abnormality of the pancreas ORPHA:1203
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Failure to thrive, Anorexia, Renal insufficiency, Hyperammonemia, Splenomegaly, Anemia, Pancreati... ORPHA:79312
Combined Oxidative Phosphorylation Deficiency 21
Hyperprolinemia, Hyperalaninemia, Hepatic steatosis OMIM:615918
Alg1-Cdg
Hypoalbuminemia, Protein-losing enteropathy, Decreased liver function, Renal insufficiency, Abnor... ORPHA:79327
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections With Or Without Deafness
Recurrent bronchitis, Atelectasis, Otitis media, Chronic sinusitis OMIM:300455
Monosomy 13Q34
Insulin resistance, Hematochezia, Horizontal eyebrow, Obesity, Hepatic steatosis, Hypercalcemia ORPHA:96168
Cutis Laxa, Autosomal Recessive, Type Ib
Pulmonary artery aneurysm, Pulmonary artery dilatation, Emphysema, Inguinal hernia, Congenital di... OMIM:614437
Congenital Disorder Of Glycosylation, Type Iiaa
Hepatic fibrosis, Hepatic failure, Nodular regenerative hyperplasia of liver, Biliary cirrhosis, ... OMIM:620454
Immunodeficiency 92
Pneumonia, Osteomyelitis, Esophagitis, Leukocytosis, Sclerosing cholangitis, Lymphocytosis, Decre... OMIM:619652
Smith-Magenis Syndrome
Ventriculomegaly, Head-banging, Velopharyngeal insufficiency, Abnormality of the thyroid gland, O... OMIM:182290
Dysbetalipoproteinemia
Decreased HDL cholesterol concentration, Xanthelasma, Increased LDL cholesterol concentration, Go... ORPHA:412
Cholesterol-Ester Transfer Protein Deficiency
Hypotriglyceridemia, Increased HDL cholesterol concentration, Hyperlipidemia, Hyperlipoproteinemi... ORPHA:79506
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Insulin resistance, Neonatal hyperbilirubinemia, Failure to thrive, Hypoglycemia, Hypogonadism, L... ORPHA:73272
Ciliary Dyskinesia, Primary, 47, And Lissencephaly
Recurrent respiratory infections, Chronic otitis media, Bronchiectasis, Atelectasis OMIM:619466
Sea-Blue Histiocyte Disease
Sea-blue histiocytosis, Elevated circulating aspartate aminotransferase concentration, Splenomega... OMIM:269600
Mandibuloacral Dysplasia With Type B Lipodystrophy
Insulin resistance, Alopecia, Abnormal hair morphology, Generalized lipodystrophy, Hyperlipidemia... ORPHA:90154
1P36 Deletion Syndrome
Abnormality of the spleen, Hepatic steatosis, Cryptorchidism, Abnormal intestine morphology, Gene... ORPHA:1606
Coccidioidomycosis
Abnormality of the spleen, Morbilliform rash, Abscess, Erythema nodosum, Pleural empyema, Atypica... ORPHA:228123
Pyruvate Dehydrogenase E1-Alpha Deficiency
Ventriculomegaly, Gastroesophageal reflux, Lateral ventricle dilatation, Abnormal medullary pyram... ORPHA:79243
Ciliary Dyskinesia, Primary, 33
Recurrent pneumonia, Atelectasis, Recurrent otitis media, Recurrent bronchitis, Chronic rhinitis,... OMIM:616726
Diaphanospondylodysostosis
Horseshoe kidney, Inguinal hernia, Cystic renal dysplasia, Abnormal liver lobulation, Enlarged ki... OMIM:608022
Congenital Rubella Syndrome
Type I diabetes mellitus, Skin rash, Splenomegaly, Abnormality of the pulmonary artery, Anemia, T... ORPHA:290
Syndromic Multisystem Autoimmune Disease Due To Itch Deficiency
Type I diabetes mellitus, Hepatitis, Acute hepatic failure, Failure to thrive in infancy, Hepatos... ORPHA:228426
Lethal Hemolytic Anemia-Genital Anomalies Syndrome
Ascites, Abnormality of the ureter, Splenomegaly, Aplasia/Hypoplasia of the lungs, Anemia, Hypopl... ORPHA:1046
Splenoportal Vascular Anomalies
Hepatic fibrosis, Ascites, Splenomegaly, Hyperammonemia, Cirrhosis, Anomalous splenoportal venous... OMIM:271500
Combined Immunodeficiency-Enteropathy Spectrum
Peritoneal abscess, Type I diabetes mellitus, Congenital pulmonary airway malformation, Jejunoile... ORPHA:436252
Miller-Dieker Lissencephaly Syndrome
Joint contracture of the hand, Failure to thrive, Inguinal hernia, Cryptorchidism, Omphalocele, C... OMIM:247200
Congenital Analbuminemia
Hypoalbuminemia, Obesity, Hyperlipidemia, Lipodystrophy, Hypercholesterolemia, Recurrent lower re... ORPHA:86816
Infantile Liver Failure Syndrome 3
Hepatic bridging fibrosis, Elevated circulating hepatic transaminase concentration, Cholestasis, ... OMIM:618641
Familial Apolipoprotein Gene Cluster Deletion Syndrome
Hypocholesterolemia, Hypotriglyceridemia, Decreased circulating apolipoprotein A-I concentration,... OMIM:620058
Hypotonia-Cystinuria Syndrome
Cystine crystalluria, Failure to thrive, Decreased response to growth hormone stimulation test, L... OMIM:606407
Gamma-Heavy Chain Disease
Rheumatoid arthritis, Abnormal lymphocyte morphology, Splenomegaly, Skin rash, Autoimmune hemolyt... ORPHA:100026
Deafness-Lymphedema-Leukemia Syndrome
Bone marrow hypocellularity, Acute leukemia, Leukocytosis, Splenomegaly, Weight loss, Lymphadenop... ORPHA:3226
Idiopathic Steroid-Resistant Nephrotic Syndrome
Hypoalbuminemia, Minimal change glomerulonephritis, Focal segmental glomerulosclerosis, Acute kid... ORPHA:567548
Mucopolysaccharidosis Type 3
Aspiration pneumonia, Urinary glycosaminoglycan excretion, Generalized hirsutism, Hepatomegaly, D... ORPHA:581
Caroli Disease
Cholestasis, Cirrhosis, Elevated circulating alanine aminotransferase concentration, Weight loss,... ORPHA:53035
Autoimmune Polyendocrinopathy Type 1
Alopecia, Abnormal circulating calcium-phosphate regulating hormone concentration, Chronic mucocu... ORPHA:3453
Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease
Joint contracture of the hand, Foot joint contracture, Failure to thrive, Exocrine pancreatic ins... ORPHA:456312
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism
Hepatic fibrosis, Hepatitis, Pancreatic hypoplasia, Umbilical hernia, Cholestasis, Decreased circ... OMIM:610199
Hereditary Amyloidosis With Primary Renal Involvement
Nephropathy, Abnormal urinary electrolyte concentration, Abnormal lymph node morphology, Hepatosp... ORPHA:85450
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Elevated circulating hepatic transaminase concentration, Hypoketotic hypoglycemia, Hyperammonemia... OMIM:600649
Ciliary Dyskinesia, Primary, 21
Recurrent pneumonia, Atelectasis, Recurrent otitis media, Chronic sinusitis, Bronchiectasis OMIM:615294
Ehlers-Danlos Syndrome, Vascular Type
Diffuse alveolar hemorrhage, Spontaneous pneumothorax, Cigarette-paper scars, Periodontitis, Emph... OMIM:130050
Lymphoproliferative Syndrome 1
Hemophagocytosis, Increased circulating ferritin concentration, Pancytopenia, Leukopenia, Pleural... OMIM:613011
Somatostatinoma
Increased circulating cortisol level, Increased circulating prolactin concentration, Intestinal o... ORPHA:97283
Mucopolysaccharidosis Type 6
Recurrent upper respiratory tract infections, Failure to thrive, Splenomegaly, Hernia, Mucopolysa... ORPHA:583
Staphylococcal Necrotizing Pneumonia
Pneumonia, Leukopenia, Pleural effusion, Leukocytosis, Increased circulating procalcitonin concen... ORPHA:36238
Recurrent Respiratory Papillomatosis
Recurrent pneumonia, Recurrent upper respiratory tract infections, Failure to thrive, Atelectasis... ORPHA:60032
Serkal Syndrome
Abnormal penis morphology, Malrotation of small bowel, Congenital diaphragmatic hernia, Abnormali... ORPHA:139466
22Q11.2 Deletion Syndrome
Cryptorchidism, Hypoparathyroidism, Anal atresia, Hypospadias, Chronic otitis media, Polycystic k... ORPHA:567
Majeed Syndrome
Inflammatory abnormality of the skin, Failure to thrive, Osteomyelitis, Leukocytosis, Splenomegal... ORPHA:77297
Cutis Laxa, Autosomal Dominant 1
Peripheral pulmonary artery stenosis, Emphysema, Inguinal hernia, Uterine prolapse, Bronchiectasis OMIM:123700
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Pneumonia, Adrenal cortical sclerosis, Recurrent pneumonia, Inflammatory abnormality of the skin,... OMIM:102700
Renal-Hepatic-Pancreatic Dysplasia 1
Cholestasis, Cirrhosis, Hepatomegaly, Polycystic kidney dysplasia, Bile duct proliferation, Malfo... OMIM:208540
Glycogen Storage Disease Ixb
Hypoglycemia, Splenomegaly, Hyperuricemia, Increased hepatic glycogen content, Hepatomegaly, Incr... OMIM:261750
Proteasome-Associated Autoinflammatory Syndrome 4
Generalized lipodystrophy, Splenomegaly, Autoimmune hemolytic anemia, Myositis, Lymphadenopathy, ... OMIM:619183
Ataxia-Pancytopenia Syndrome
Acute myelomonocytic leukemia, Abnormality of neutrophils, Pancytopenia, Abnormal macrophage morp... ORPHA:2585
Desmoplastic Small Round Cell Tumor
Ascites, Ileus, Anemia, Cachexia, Weight loss, Lymphadenopathy, Abnormal peritoneum morphology, T... ORPHA:83469
Cat Eye Syndrome
Anal stenosis, Total anomalous pulmonary venous return, Meckel diverticulum, Volvulus, Umbilical ... OMIM:115470
B4Galt1-Cdg
Elevated circulating hepatic transaminase concentration, Inflammatory abnormality of the skin, Sp... ORPHA:79332
Bile Acid Synthesis Defect, Congenital, 2
Intrahepatic cholestasis, Hepatic failure, Elevated circulating hepatic transaminase concentratio... OMIM:235555
Congenital Disorder Of Glycosylation, Type Iiw
Recurrent otitis media, Ankyloglossia, Microcytic anemia, Hepatic steatosis, Elevated circulating... OMIM:619525
Free Sialic Acid Storage Disease
Failure to thrive in infancy, Ascites, Splenomegaly, Proteinuria, Hepatomegaly, Nephrotic syndrom... ORPHA:834
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations
Pneumonia, Nodular regenerative hyperplasia of liver, Abnormality of the hepatic vasculature, Gas... ORPHA:247691
Slc35A1-Cdg
Cellulitis, Pneumonia, Giant platelets, Pulmonary hemorrhage, Abnormal platelet granules, Neutrop... ORPHA:238459
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency
Hypoglycemia, Adrenal hyperplasia, Renal salt wasting, Elevated circulating 21-deoxycortisol conc... OMIM:201910
Isolated Thyroid-Stimulating Hormone Deficiency
Increased pituitary glycoprotein hormone alpha subunit level, Neonatal hyperbilirubinemia, Failur... ORPHA:90674
Marfan Syndrome
High, narrow palate, Spontaneous pneumothorax, Pulmonary artery dilatation, Emphysema, Slender bu... ORPHA:558
Graves Disease
Abnormal abdomen morphology, Graves disease, Goiter, Increased circulating free T3, Polyphagia, W... OMIM:275000
Autoimmune Lymphoproliferative Syndrome
Lymphopenia, Hypersplenism, Decreased proportion of CD4-positive helper T cells, Abnormal proport... ORPHA:3261
Pulmonary Fibrosis-Hepatic Hyperplasia-Bone Marrow Hypoplasia Syndrome
Nodular regenerative hyperplasia of liver, Abnormality of the hepatic vasculature, Elevated circu... ORPHA:210136
Heterotaxy, Visceral, 11, Autosomal, With Male Infertility
Duodenal atresia, Polysplenia, Intestinal malrotation, Chronic sinusitis, Chronic otitis media OMIM:619608
Glucagonoma
Increased circulating cortisol level, Increased circulating prolactin concentration, Acanthocytos... ORPHA:97280
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of
Hyperglycinuria, Elevated circulating hepatic transaminase concentration, Decreased circulating c... OMIM:201450
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis
Pneumonia, Plasmacytosis, Lymphopenia, Autoimmune hemolytic anemia, Glomerulonephritis OMIM:247800
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation
Precocious puberty, Maturity-onset diabetes of the young, Recurrent otitis media, Obesity, Hyperc... ORPHA:254531
Placental Insufficiency
Insulin resistance, Abnormal lung morphology, Small for gestational age ORPHA:439167
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency
Acute hepatic steatosis, Hepatitis, Cholestasis, Increased LDL cholesterol concentration, Obesity... ORPHA:209902
Citrullinemia, Type Ii, Neonatal-Onset
Hypermethioninemia, Intrahepatic cholestasis, Portal fibrosis, Failure to thrive, Decreased HDL c... OMIM:605814
Primary Sclerosing Cholangitis
Cholestasis, Acute hepatic failure, Hepatosplenomegaly, Abnormal biliary tract morphology, Cirrho... ORPHA:171
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy
Hypoalbuminemia, Intrahepatic cholestasis, Hepatic fibrosis, Failure to thrive, Decreased liver f... OMIM:617093
Sézary Syndrome
Alopecia, Abnormal pleura morphology, Abnormal lymphocyte morphology, Nail dystrophy, Splenomegal... ORPHA:3162
Harderoporphyria
Increased fecal harderoporphyrin, Neonatal hyperbilirubinemia, Increased circulating ferritin con... OMIM:618892
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Elevated circulating luteinizing hormone level, Absence of pubertal development, Ovarian cyst, De... ORPHA:90793
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Elevated circulating hepatic transaminase concentration, Brain abscess, Abnormal lymph node morph... ORPHA:54251
Griscelli Syndrome Type 2
Hemophagocytosis, Premature graying of hair, Pancytopenia, Hyperlipidemia, Splenomegaly, Lymphade... ORPHA:79477
Thoraco-Abdominal Enteric Duplication
Intestinal malrotation, Hepatomegaly, Camptodactyly of finger, Duodenal stenosis ORPHA:1759
Maternal Uniparental Disomy Of Chromosome 4
Type I diabetes mellitus, Hypocholesterolemia, Abnormal erythrocyte morphology, Acanthocytosis, A... ORPHA:96180
Pseudo-Torch Syndrome 1
Ventriculomegaly, Elevated circulating hepatic transaminase concentration, Failure to thrive, Dec... OMIM:251290
Acth-Independent Macronodular Adrenal Hyperplasia
Increased circulating cortisol level, Decreased circulating ACTH concentration, Macronodular adre... OMIM:219080
Musculocontractural Ehlers-Danlos Syndrome
Malrotation of small bowel, Ventriculomegaly, Functional abnormality of the bladder, Abnormal mes... ORPHA:2953
Turner Syndrome Due To Structural X Chromosome Anomalies
Inflammation of the large intestine, Recurrent otitis media, Hyperinsulinemia, Gastrointestinal a... ORPHA:99413
Mosaic Monosomy X
Inflammation of the large intestine, Recurrent otitis media, Hyperinsulinemia, Gastrointestinal a... ORPHA:99228
Monosomy X
Inflammation of the large intestine, Recurrent otitis media, Hyperinsulinemia, Gastrointestinal a... ORPHA:99226
Turner Syndrome
Inflammation of the large intestine, Recurrent otitis media, Hyperinsulinemia, Gastrointestinal a... ORPHA:881
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Premature adrenarche, Cryptorchidism, Renal salt wasting, Hyperkalemia, Hypospadias, Neonatal hyp... ORPHA:90791
Neurodevelopmental Disorder With Epilepsy And Brain Atrophy
Attention deficit hyperactivity disorder, Recurrent aspiration pneumonia, Gastroesophageal reflux OMIM:619971
Congenital Syphilis
Pneumonia, Nephrotic syndrome, Keratitis, Hypoglycemia, Extramedullary hematopoiesis, Hepatosplen... ORPHA:499009
Hypermethioninemia Due To Adenosine Kinase Deficiency
Hypermethioninemia, Portal fibrosis, Elevated circulating S-adenosyl-L-homocysteine concentration... OMIM:614300
Beta-Thalassemia Intermedia
Extramedullary hematopoiesis, Persistence of hemoglobin F, Hepatosplenomegaly, Anemia of inadequa... ORPHA:231222
Microvillus Inclusion Disease
Nephrocalcinosis, Villous atrophy, Abnormal renal physiology, Abnormal small intestinal villus mo... ORPHA:2290
Autoinflammation, Antibody Deficiency, And Immune Dysregulation
Cellulitis, Bronchiolitis, Interstitial pneumonitis, Enterocolitis, Recurrent sinopulmonary infec... OMIM:614878
Classic Mycosis Fungoides
Alopecia, Eczematoid dermatitis, Abnormal lymphocyte morphology, Skin rash, Splenomegaly, Lymphad... ORPHA:2584
Body Mass Index Quantitative Trait Locus 20
Polyphagia, Hyperinsulinemia, Obesity OMIM:618406
Alpha-Mannosidosis, Adult Form
Pneumonia, Oligosacchariduria, Hepatosplenomegaly, Pancytopenia, Recurrent gastroenteritis, Macro... ORPHA:309288
Degcags Syndrome
Chronic kidney disease, Oral-pharyngeal dysphagia, Premature graying of hair, Cholestasis, Hepato... OMIM:619488
Mu-Heavy Chain Disease
Nephropathy, Bence Jones Proteinuria, Abnormal B cell count, Splenomegaly, Anemia, Weight loss, L... ORPHA:100024
Oculocerebrorenal Syndrome Of Lowe
Periodontitis, Cryptorchidism, Hematuria, Hypophosphatemia, Proximal renal tubular acidosis, Moto... ORPHA:534
Cystic Fibrosis
Recurrent pneumonia, Biliary cirrhosis, Bronchiectasis, Nasal polyposis, Failure to thrive, Exocr... OMIM:219700
Progressive Encephalopathy With Leukodystrophy Due To Decr Deficiency
Ventriculomegaly, Decreased circulating carnitine concentration, Failure to thrive, Abnormal circ... ORPHA:431361
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss
Hepatic bridging fibrosis, Hepatic fibrosis, Elevated circulating gamma-aminobutyric acid concent... OMIM:619658
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Hypoalbuminemia, Intestinal lymphangiectasia, Ascites, Intestinal obstruction, Abnormal intestine... OMIM:226300
Hemochromatosis, Type 2A
Increased circulating iron concentration, Increased circulating ferritin concentration, Splenomeg... OMIM:602390
Martinez-Frias Syndrome
Annular pancreas, Pancreatic hypoplasia, Intestinal malrotation, Jejunal atresia, Tracheoesophage... OMIM:601346
Aicardi-Goutieres Syndrome 4
Ventriculomegaly, Elevated circulating hepatic transaminase concentration, Hepatosplenomegaly, Pa... OMIM:610333
Hemoglobin H Disease
HbH hemoglobin, Splenomegaly, Hepatomegaly, Reduced alpha/beta synthesis ratio, Hemolytic anemia OMIM:613978
Hypermetabolism Due To Uncoupled Mitochondrial Oxidative Phosphorylation 2
Failure to thrive, Hyperleucinemia, Hyperammonemia, Decreased body weight, Polyphagia, Hypervalin... OMIM:620085
Congenital Pulmonary Lymphangiectasia
Gastroesophageal reflux, Ascites, Pleural effusion, Splenomegaly, Hepatomegaly ORPHA:2414
Congenital Contractural Arachnodactyly
Congenital contracture, Arthrogryposis multiplex congenita, Camptodactyly of finger, Intestinal m... ORPHA:115
Fetal Gaucher Disease
Abnormality of the spleen, Pancytopenia, Splenomegaly, Thrombocytopenia, Hepatomegaly, High palat... ORPHA:85212
Budd-Chiari Syndrome
Gastrointestinal hemorrhage, Elevated circulating hepatic transaminase concentration, Ascites, Ga... ORPHA:131
Portal Hypertension, Noncirrhotic, 1
Elevated circulating hepatic transaminase concentration, Portal hypertension, Splenomegaly, Hepat... OMIM:617068
Ornithine Transcarbamylase Deficiency
Aminoaciduria, Hepatic failure, Hypoglycemia, Hyperammonemia, Splenomegaly, Pyloric stenosis ORPHA:664
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Recurrent pneumonia, Abnormal CD4:CD8 ratio, Recurrent aphthous stomatitis, Splenomegaly, Abscess... OMIM:150550
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive
Pneumonia, Failure to thrive, Failure to thrive secondary to recurrent infections, Otitis media, ... OMIM:601457
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Failure to thrive, Extramedullary hematopoiesis, Leukopenia, Splenomegaly, Anemia, Thrombocytopen... OMIM:615285
Paternal Uniparental Disomy Of Chromosome 1
Abnormal dental enamel morphology, Obesity, Proteinuria, Polyphagia, Episodic hemolytic anemia, I... ORPHA:251004
14Q11.2 Microduplication Syndrome
Highly arched eyebrow, Obesity, Polyphagia, Attention deficit hyperactivity disorder, Hypothyroid... ORPHA:261229
Hypobetalipoproteinemia, Familial, 1
Elevated circulating aspartate aminotransferase concentration, Hypocholesterolemia, Acanthocytosi... OMIM:615558
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies
Alopecia, Renal hypoplasia, Intestinal malrotation, Decreased testicular size, Cleft soft palate,... OMIM:619321
Hypertriglyceridemia 2
Hypercholesterolemia, Hypertriglyceridemia, Decreased HDL cholesterol concentration OMIM:619324
Portal Hypertension, Noncirrhotic, 2
Nodular regenerative hyperplasia of liver, Elevated circulating hepatic transaminase concentratio... OMIM:619463
Neuraminidase Deficiency
Urinary excretion of sialylated oligosaccharides, Ascites, Increased urinary O-linked sialopeptid... OMIM:256550
Hyper-Ige Syndrome 4B, Autosomal Recessive, With Recurrent Infections
Joint contracture of the hand, Keratitis, Eczematoid dermatitis, Recurrent otitis media, Eosinoph... OMIM:618523
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Elevated circulating hepatic transaminase concentration, Increased circulating ferritin concentra... OMIM:616860
Familial Hyperaldosteronism Type Iii
Polydipsia, Adrenal hyperplasia, Hypokalemia, Abnormal circulating renin, Left ventricular hypert... ORPHA:251274
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Chronic kidney disease, Hepatic fibrosis, Hepatic failure, Ventriculomegaly, Nephronophthisis, Ch... OMIM:615630
Combined Oxidative Phosphorylation Deficiency 19
Gastroesophageal reflux, Failure to thrive, Elevated circulating aspartate aminotransferase conce... OMIM:615595
Sialuria
Inguinal hernia, Splenomegaly, Hirsutism, Low posterior hairline, Generalized hirsutism, Hypoplas... OMIM:269921
Mucopolysaccharidosis, Type Iiib
Recurrent upper respiratory tract infections, Coarse hair, Heparan sulfate excretion in urine, Sp... OMIM:252920
Systemic-Onset Juvenile Idiopathic Arthritis
Pleural effusion, Skin rash, Splenomegaly, Elevated circulating C-reactive protein concentration,... ORPHA:85414
Squalene Synthase Deficiency
Elevated urine mesaconic acid level, Bilateral cryptorchidism, Elbow flexion contracture, Hypocho... OMIM:618156
Lujo Hemorrhagic Fever
Elevated circulating hepatic transaminase concentration, Oliguria, Atelectasis, Lymphopenia, Leuk... ORPHA:319213
Yellow Nail Syndrome
Nephropathy, Biliary tract neoplasm, Yellow nails, Recurrent respiratory infections, Hypoplasia o... ORPHA:662
Congenital Bile Acid Synthesis Defect Type 3
Hepatic failure, Cholestasis, Elevated circulating aspartate aminotransferase concentration, Hepa... ORPHA:79302
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)
Hypoalbuminemia, Depletion of mitochondrial DNA in liver, Increased total bilirubin, Cholestasis,... OMIM:618528
Mucopolysaccharidosis, Type Iiid
Recurrent upper respiratory tract infections, Coarse hair, Elbow flexion contracture, Facial hirs... OMIM:252940
Immunodeficiency 56
Hepatic failure, Recurrent pneumonia, Failure to thrive, Recurrent otitis media, Recurrent infect... OMIM:615207
Type 1 Diabetes Mellitus
Polydipsia, Hyperglycemia, Polyphagia, Polyuria, Decreased level of 1,5 anhydroglucitol in serum,... OMIM:222100
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease
Hypospadias, Multicystic kidney dysplasia, Elevated circulating hepatic transaminase concentratio... ORPHA:93111
Acyl-Coa Dehydrogenase 9 Deficiency
Elevated circulating acylcarnitine concentration, Elevated circulating hepatic transaminase conce... ORPHA:99901
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome
Sparse eyebrow, Sparse body hair, Abnormal dental enamel morphology, Cholestasis, Portal hyperten... ORPHA:59303
Hemophagocytic Lymphohistiocytosis, Familial, 1
Hypoalbuminemia, Hemophagocytosis, Failure to thrive, Increased circulating ferritin concentratio... OMIM:267700
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Hematochezia, Inflammation of the large intestine, Hepatic fibrosis, Elevated circulating hepatic... OMIM:615895
Fructose-1,6-Bisphosphatase Deficiency
Neonatal hyperbilirubinemia, Elevated circulating hepatic transaminase concentration, Ventriculom... ORPHA:348
Glycogen Storage Disease Due To Acid Maltase Deficiency
Failure to thrive, Atelectasis, Oligosacchariduria, Respiratory tract infection, Elevated circula... ORPHA:365
Ppoma
Increased circulating cortisol level, Increased circulating prolactin concentration, Intestinal o... ORPHA:97278
Hyperbilirubinemia, Shunt, Primary
Erythroid hyperplasia, Hyperbilirubinemia, Splenomegaly, Reticulocytosis, Anemia of inadequate pr... OMIM:237800
Gaucher Disease, Perinatal Lethal
Hepatic failure, Ventriculomegaly, Ascites, Hepatosplenomegaly, Splenomegaly, Decreased body weig... OMIM:608013
Vipoma
Follicular thyroid carcinoma, Increased circulating cortisol level, Increased circulating prolact... ORPHA:97282
Glycogen Storage Disease Ixc
Elevated circulating hepatic transaminase concentration, Hypoglycemia, Splenomegaly, Increased he... OMIM:613027
Proteus-Like Syndrome
Bronchogenic cyst, Thymus hyperplasia, Subcutaneous lipoma, Abnormality of the parathyroid gland,... ORPHA:2969
Macrophage Activation Syndrome
Hypoalbuminemia, Hepatitis, Decreased liver function, Increased circulating ferritin concentratio... ORPHA:158061
Smith-Magenis Syndrome
Precocious puberty, Self-injurious behavior, Ventriculomegaly, Gastroesophageal reflux, Failure t... ORPHA:819
Symptomatic Form Of Hfe-Related Hemochromatosis
Increased circulating ferritin concentration, Decreased serum testosterone concentration, Hypergl... ORPHA:465508
Diarrhea 10, Protein-Losing Enteropathy Type
Hypoalbuminemia, Protein-losing enteropathy, Hematochezia, Recurrent upper respiratory tract infe... OMIM:618183
Chronic Visceral Acid Sphingomyelinase Deficiency
Hypersplenism, Increased LDL cholesterol concentration, Cirrhosis, Hepatomegaly, Autoimmune throm... ORPHA:77293
Bile Acid Synthesis Defect, Congenital, 4
Hematochezia, Hepatic failure, Elevated circulating hepatic transaminase concentration, Intrahepa... OMIM:214950
Familial Hyperaldosteronism Type I
Polydipsia, Secretory adrenocortical adenoma, Dexamethasone-suppressible primary hyperaldosteroni... ORPHA:403
Cog8-Cdg
Protein-losing enteropathy, Ventriculomegaly, Elevated circulating hepatic transaminase concentra... ORPHA:95428
Feingold Syndrome
Abnormality of the spleen, Esophageal atresia, Duodenal atresia, Annular pancreas ORPHA:1305
Immunodeficiency 84
Perianal abscess, Splenomegaly, B lymphocytopenia OMIM:619437
Kikuchi-Fujimoto Disease
Abnormal lymph node morphology, Pustule, Weight loss, Neutropenia, Anorexia, Elevated circulating... ORPHA:50918
Avian Influenza
Hypoalbuminemia, Pneumonia, Myelitis, Elevated circulating hepatic transaminase concentration, Ac... ORPHA:454836
Hurler-Scheie Syndrome
Umbilical hernia, Camptodactyly of finger, Heparan sulfate excretion in urine, Contracture of the... OMIM:607015
Neurodevelopmental Disorder With Intracranial Hemorrhage, Seizures, And Spasticity
Highly arched eyebrow, Pulmonary hypoplasia, Hepatic sinusoidal dilatation, Dilated third ventric... OMIM:620371
Hurler Syndrome
Recurrent respiratory infections, Umbilical hernia, Recurrent otitis media, Heparan sulfate excre... OMIM:607014
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections
Allergic rhinitis, Atopic dermatitis, Recurrent pneumonia, Reduced natural killer cell count, Ecz... OMIM:243700
Steinert Myotonic Dystrophy
Intestinal pseudo-obstruction, Oral-pharyngeal dysphagia, Hyperinsulinemia, Obsessive-compulsive ... ORPHA:273
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Hepatic fibrosis, Periportal fibrosis, Multiple small medullary renal cysts, Portal hypertension,... OMIM:263200
Adnp Syndrome
Abnormal temper tantrums, High anterior hairline, Gastroesophageal reflux, Ventriculomegaly, Recu... ORPHA:404448
Nodular Non-Suppurative Panniculitis
Splenomegaly, Inflammatory abnormality of the eye, Weight loss, Hepatomegaly, Panniculitis ORPHA:33577
Mandibuloacral Dysplasia With Type A Lipodystrophy
Insulin resistance, Alopecia, Breast aplasia, Abnormal eyebrow morphology, Hyperlipidemia, Absent... ORPHA:90153
Sitosterolemia 2
Hypercholesterolemia, Elevated circulating sitosterol concentration OMIM:618666
Autoinflammation, Immune Dysregulation, And Eosinophilia
Atopic dermatitis, Failure to thrive, Hepatosplenomegaly, Hepatic cysts, Colonic eosinophilia, Eo... OMIM:618999
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Protein-losing enteropathy, Hematochezia, Gastrointestinal carcinoma, Xerostomia, Alopecia, Hypom... OMIM:175500
Carnitine-Acylcarnitine Translocase Deficiency
Elevated circulating hepatic transaminase concentration, Hypoglycemia, Dicarboxylic aciduria, Hyp... OMIM:212138
Persistent Polyclonal B-Cell Lymphocytosis
Hepatomegaly, Lymphocytosis, Splenomegaly OMIM:606445
Dominant Beta-Thalassemia
Reduced hemoglobin A, Extramedullary hematopoiesis, Persistence of hemoglobin F, Hypopituitarism,... ORPHA:231226
Trisomy 18P
High, narrow palate, Highly arched eyebrow, Bilateral cryptorchidism, Polyphagia, Attention defic... ORPHA:1715
Glycogen Storage Disease Ib
Focal segmental glomerulosclerosis, Inflammation of the large intestine, Elevated circulating hep... OMIM:232220
Oculopharyngodistal Myopathy
High, narrow palate, Oral-pharyngeal dysphagia, Weight loss, High palate, Recurrent aspiration pn... ORPHA:98897
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal
Sparse eyebrow, Hypocholesterolemia, Micropenis, Brittle hair, Hepatomegaly, Hydrocele testis OMIM:618810
Aromatase Deficiency
Insulin resistance, Obesity, Type II diabetes mellitus, Hyperlipidemia, Hepatic steatosis, Eunuch... ORPHA:91
Mandibuloacral Dysplasia Progeroid Syndrome
Sparse hair, Focal segmental glomerulosclerosis, Sparse eyebrow, Elevated circulating hepatic tra... OMIM:619127
3-Methylglutaconic Aciduria, Type V
3-Methylglutaric aciduria, Failure to thrive, Normochromic microcytic anemia, Elevated circulatin... OMIM:610198
Immunodeficiency With Hyper-Igm, Type 4
Recurrent upper respiratory tract infections, Absence of lymph node germinal center, Osteomyeliti... OMIM:608184
Pachydermoperiostosis
Peptic ulcer, Gastrointestinal hemorrhage, Eczematoid dermatitis, Osteomyelitis, Splenomegaly, Ab... ORPHA:2796
Autoimmune Lymphoproliferative Syndrome, Type Iia
Nephritis, Gastrointestinal hemorrhage, Nephrotic syndrome, Malar rash, Chronic noninfectious lym... OMIM:603909
Hyperproinsulinemia
Hyperglycemia, Hyperinsulinemia OMIM:616214
2Q23.1 Microdeletion Syndrome
Self-injurious behavior, Highly arched eyebrow, Cryptorchidism, Generalized hirsutism, Polyphagia... ORPHA:228402
Intellectual Developmental Disorder, Autosomal Dominant 39
Obesity, Self-mutilation, Polyphagia, Aggressive behavior, Hydrocephalus OMIM:616521
Xanthomatosis, Susceptibility To
Hypercholesterolemia OMIM:602247
Ciliary Dyskinesia, Primary, 14
Abnormal axonemal organization of respiratory motile cilia, Recurrent pneumonia, Polysplenia, Oti... OMIM:613807
Trigonocephaly 1
High, narrow palate, Long penis, Meckel diverticulum, Omphalocele, Synophrys OMIM:190440
Tracheobronchopathia Osteochondroplastica
Pneumonia, Recurrent pneumonia, Bronchitis, Atelectasis, Esophagitis, Recurrent respiratory infec... ORPHA:3348
Pmm2-Cdg
Increased circulating prolactin concentration, Aspiration pneumonia, Hyperinsulinemia, Aplasia of... ORPHA:79318
Classic Hodgkin Lymphoma
Bone marrow hypocellularity, Skin rash, Splenomegaly, Weight loss, Lymphadenopathy, Anorexia, Hep... ORPHA:391
Prader-Willi Syndrome Due To Imprinting Mutation
Hypogonadotropic hypogonadism, Hypopigmentation of hair, Obesity, Polyphagia ORPHA:177910
Acute Lung Injury
Pneumonia, Diffuse alveolar hemorrhage, Addictive alcohol use, Elevated circulating C-reactive pr... ORPHA:178320
Immunodeficiency 58
Allergic rhinitis, Recurrent pneumonia, Bronchiectasis, Recurrent upper respiratory tract infecti... OMIM:618131
Mucopolysaccharidosis, Type Vi
Pneumonia, Recurrent upper respiratory tract infections, Umbilical hernia, Inguinal hernia, Splen... OMIM:253200
Plasminogen Deficiency, Type I
Nephritis, Ventriculomegaly, Recurrent upper respiratory tract infections, Periodontitis, Nephrol... OMIM:217090
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Cholestasis, Recurrent otitis media, Hepatosplenomegaly, Cleft soft palate, Reduced subcutaneous ... OMIM:619503
Hemophagocytic Lymphohistiocytosis, Familial, 2
Hypoalbuminemia, Elevated circulating hepatic transaminase concentration, Hemophagocytosis, Failu... OMIM:603553
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2
Pneumonia, Recurrent upper respiratory tract infections, Chronic bronchitis, B lymphocytopenia, H... OMIM:614069
Bloom Syndrome
Recurrent upper respiratory tract infections, Small for gestational age, Hypertrichosis, Malar ra... OMIM:210900
Gm1 Gangliosidosis Type 1
Abnormal odontoid tissue morphology, Aspiration pneumonia, Hepatosplenomegaly, Urinary glycosamin... ORPHA:79255
Bile Acid Synthesis Defect, Congenital, 5
Hepatic fibrosis, Hepatic failure, Elevated circulating hepatic transaminase concentration, Porta... OMIM:616278
Dyskeratosis Congenita
Periodontitis, White hair, Premature graying of hair, Displacement of the urethral meatus, Cirrho... ORPHA:1775
Congenital Short Bowel Syndrome
Congenital shortened small intestine, Decreased intestinal transit time, Failure to thrive, Intes... OMIM:615237
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy
Gastroesophageal reflux, Atelectasis, Protruding tongue, Decreased body weight, Increased connect... ORPHA:258
Visceral Myopathy 2
Barrett esophagus, Gastroesophageal reflux, Volvulus, Intestinal pseudo-obstruction, Megacystis, ... OMIM:619350
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis
Hepatic failure, Ventriculomegaly, Micronodular cirrhosis, Aspiration pneumonia, Ascites, Splenom... OMIM:301072
Stromme Syndrome
Accessory spleen, Bilateral renal hypoplasia, Intestinal malrotation, Jejunal atresia, Hydronephr... OMIM:243605
Asbestos Intoxication
Abnormal pulmonary interstitial morphology, Atelectasis, Interlobular septal thickening, Lung ade... ORPHA:2302
Idiopathic Copper-Associated Cirrhosis
Hepatic steatosis, Increased circulating copper concentration, Cirrhosis, Copper accumulation in ... ORPHA:209919
Amyloidosis, Hereditary Systemic 2
Nephropathy, Cholestasis, Skin rash, Splenomegaly, Proteinuria, Hematuria, Hepatomegaly, Nephroti... OMIM:105200
Ogden Syndrome
Recurrent otitis media, Hyperbilirubinemia, Cryptorchidism, Pulmonary edema, Jaundice, Minimal su... OMIM:300855
Neutral Lipid Storage Disease With Ichthyosis
Alopecia, Elevated circulating hepatic transaminase concentration, Micronodular cirrhosis, Abnorm... ORPHA:98907
Short Fifth Metacarpals-Insulin Resistance Syndrome
Hyperinsulinemia, Spherocytosis, Splenomegaly ORPHA:66518
Schnitzler Syndrome
Leukocytosis, Skin rash, Splenomegaly, Anemia, Lymphadenopathy, Arthritis, Hepatomegaly ORPHA:37748
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Recurrent aspiration pneumonia, Dysphagia ORPHA:2590
Dyrk1A-Related Intellectual Disability Syndrome
Unilateral renal agenesis, Ventriculomegaly, Gastroesophageal reflux, Small for gestational age, ... ORPHA:464306
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome
Polydipsia, Hyperaldosteronism, Adrenal hyperplasia, Nephrolithiasis, Hypokalemia, Abnormal circu... ORPHA:369929
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Inappropriate laughter, Obesity, Polyphagia, Hyperactivity, Hypopigmentation of hair ORPHA:411515
Bardet-Biedl Syndrome 22
Hypogonadism, Polyphagia, Obesity, Large for gestational age OMIM:617119
Adams-Oliver Syndrome 5
Dystrophic toenail, Umbilical hernia, Hypersplenism, Inguinal hernia, Splenomegaly, Portal vein t... OMIM:616028
Congenital Macroglossia
Macroglossia, Hypothyroidism, Abnormal hepatic glycogen storage ORPHA:2430
3-Hydroxy-3-Methylglutaric Aciduria
3-Methylglutaric aciduria, Elevated circulating hepatic transaminase concentration, Ketonuria, Re... ORPHA:20
Drug Reaction With Eosinophilia And Systemic Symptoms
Elevated circulating hepatic transaminase concentration, Hepatitis, Acute hepatic failure, Inters... ORPHA:139402
Congenital Multicore Myopathy With External Ophthalmoplegia
Pneumonia, Recurrent respiratory infections, Cryptorchidism, Increased connective tissue, Micrope... ORPHA:98905
Liver Failure, Infantile, Transient
Hypoalbuminemia, Elevated circulating hepatic transaminase concentration, Dicarboxylic aciduria, ... OMIM:613070
Cornelia De Lange Syndrome 1
Congenital diaphragmatic hernia, Cryptorchidism, Low posterior hairline, High palate, Hypospadias... OMIM:122470
Infection-Related Hemolytic Uremic Syndrome
Hyperkalemia, Pleural empyema, Intestinal perforation, Acute kidney injury, Anuria, Gastrointesti... ORPHA:544482
Hennekam Lymphangiectasia-Lymphedema Syndrome 3
Protein-losing enteropathy, Spontaneous pneumothorax, Hydrocele testis, Synophrys OMIM:618154
Autoimmune Polyendocrinopathy Type 4
Rheumatoid arthritis, Xerostomia, Iridocyclitis, Tubulointerstitial nephritis, Celiac disease, Au... ORPHA:227990
Joubert Syndrome 10
Obesity, Frequent temper tantrums, Decreased body weight, Hirsutism, Polyphagia OMIM:300804
X-Linked Sideroblastic Anemia
Elevated circulating hepatic transaminase concentration, Glucose intolerance, Splenomegaly, Anemi... ORPHA:75563
Agammaglobulinemia 8B, Autosomal Recessive
Recurrent pneumonia, B Acute Lymphoblastic Leukemia, Failure to thrive, Pancytopenia, Splenomegal... OMIM:619824
Joubert Syndrome With Hepatic Defect
Nephropathy, Highly arched eyebrow, Multicystic kidney dysplasia, Elevated circulating hepatic tr... ORPHA:1454
Gaucher Disease, Type Ii
Gastroesophageal reflux, Bronchiolitis, Failure to thrive, Splenomegaly, Anemia, Thrombocytopenia... OMIM:230900
Pericardial And Diaphragmatic Defect
Meckel diverticulum, Intestinal malrotation, Congenital diaphragmatic hernia, Abnormal gastrointe... ORPHA:2847
Osteogenesis Imperfecta, Type Xxiii
Insulin resistance, Truncal obesity OMIM:620639
Pancreatic Lipase Deficiency
Steatorrhea, Hypocholesterolemia, Fat malabsorption OMIM:614338
Mucopolysaccharidosis, Type Vii
Recurrent upper respiratory tract infections, Coarse hair, Umbilical hernia, Recurrent otitis med... OMIM:253220
Hurler Syndrome
Recurrent respiratory infections, Camptodactyly of finger, Thick eyebrow, Splenomegaly, Hernia, G... ORPHA:93473
Mosaic Variegated Aneuploidy Syndrome 2
Duodenal atresia, Abnormal lung lobation, Decreased response to growth hormone stimulation test, ... OMIM:614114
Juvenile Polyposis Of Infancy
High, narrow palate, Protein-losing enteropathy, Intestinal bleeding, Gastrointestinal hemorrhage... ORPHA:79076
Mucopolysaccharidosis Type 7
Hepatitis, Umbilical hernia, Ascites, Abnormal pleura morphology, Splenomegaly, Inguinal hernia, ... ORPHA:584
Autoimmune Polyendocrinopathy Type 3
Rheumatoid arthritis, Xerostomia, Autoimmune hypoparathyroidism, Iridocyclitis, Tubulointerstitia... ORPHA:227982
Hypotonia-Cystinuria Syndrome
Polyphagia, Cystinuria, Failure to thrive, Nephrolithiasis ORPHA:163690
Mitochondrial Complex Iv Deficiency, Nuclear Type 3
Failure to thrive, Splenomegaly, Macrocytic anemia, Hyperprolinemia, Increased serum pyruvate, Hy... OMIM:619046
Immunodeficiency 42
Recurrent aphthous stomatitis, Splenomegaly, Recurrent cutaneous fungal infections, Hypoplasia of... OMIM:616622
Niemann-Pick Disease, Type C2
Fetal ascites, Sea-blue histiocytosis, Bone-marrow foam cells, Splenomegaly, Hepatomegaly, Motor ... OMIM:607625
Bangstad Syndrome
Type I diabetes mellitus, Increased circulating cortisol level, Abnormality of the parathyroid gl... ORPHA:1227
Hermansky-Pudlak Syndrome 2
Albinism, Recurrent pneumonia, Gastroesophageal reflux, Periodontitis, Fair hair, Enlarged platel... OMIM:608233
Beta-Thalassemia Major
Reduced hemoglobin A, Extramedullary hematopoiesis, Persistence of hemoglobin F, Hypopituitarism,... ORPHA:231214
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis
Failure to thrive in infancy, Osteomyelitis, Splenomegaly, Skin rash, Abscess, Pustule, Elevated ... OMIM:612852
Gaisböck Syndrome
Increased red blood cell count, Peptic ulcer, Nephrocalcinosis, Increased mean corpuscular hemogl... ORPHA:90041
Cryoglobulinemic Vasculitis
Gastrointestinal hemorrhage, Gastrointestinal infarctions, Abnormality of the liver, Renal insuff... ORPHA:91138
Ciliary Dyskinesia, Primary, 29
Recurrent respiratory infections, Bronchiectasis, Atelectasis OMIM:615872
Indolent Systemic Mastocytosis
Mastocytosis, Increased proportion of CD25+ mast cells, Skin rash, Splenomegaly, Lymphadenopathy,... ORPHA:98848
6Q16 Microdeletion Syndrome
Abnormal temper tantrums, Polyphagia, Obesity, Thick eyebrow ORPHA:171829
Hyperlipoproteinemia, Type Id
Failure to thrive, Increased circulating chylomicron concentration, Splenomegaly, Hypertriglyceri... OMIM:615947
Bdv Syndrome
Central hypothyroidism, Decreased serum testosterone concentration, Hyperinsulinemia, Obesity, Ty... OMIM:619326
Arima Syndrome
Hepatic fibrosis, Nephronophthisis, Polydipsia, Dilated fourth ventricle, Stage 5 chronic kidney ... OMIM:243910
Short Stature, Dauber-Argente Type
Increased insulin like growth factor binding protein acid labile subunit concentration, Fasting h... OMIM:619489
Intellectual Developmental Disorder, Autosomal Dominant 72
Renal hypoplasia, Obesity, Overfriendliness, Polyphagia, Attention deficit hyperactivity disorder... OMIM:620439
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7
High, narrow palate, Insulin resistance, Premature adrenarche, Gastroesophageal reflux, Precociou... ORPHA:96182
Tafro Syndrome
Ascites, Hepatosplenomegaly, Pleural effusion, Splenomegaly, Leukocytosis, Renal insufficiency, A... ORPHA:457077
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia
Urinary bladder sphincter dysfunction, Hepatic steatosis, Elevated circulating creatine kinase co... ORPHA:52430
Silver-Russell Syndrome
Insulin resistance, Premature adrenarche, Precocious puberty, Gastroesophageal reflux, Recurrent ... ORPHA:813
Mast Cell Sarcoma
Mastocytosis, Splenomegaly, Weight loss, Lymphadenopathy, Hepatomegaly, Mediastinal lymphadenopathy ORPHA:66661
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1
Pneumonia, Reduced natural killer cell count, Failure to thrive, Protruding tongue, Chronic bronc... OMIM:242860
Familial Hyperaldosteronism Type Ii
Secretory adrenocortical adenoma, Adrenal hyperplasia, Hypokalemia, Abnormal circulating renin, G... ORPHA:404
Chops Syndrome
High, narrow palate, Gastroesophageal reflux, Coarse hair, Aspiration pneumonia, Horseshoe kidney... OMIM:616368
Trisomy 8P
Bifid uvula, Malrotation of small bowel, Recurrent upper respiratory tract infections, Annular pa... ORPHA:264450
Igg4-Related Kidney Disease
Chronic kidney disease, Inflammatory abnormality of the skin, Lymphadenitis, Arteritis, Abnormal ... ORPHA:449395
Ciliary Dyskinesia, Primary, 9
Pneumonia, Recurrent otitis media, Recurrent sinusitis, Chronic rhinitis, Chronic sinusitis, Chro... OMIM:612444
Gracile Syndrome
Increased circulating ferritin concentration, Cholestasis, Hepatic steatosis, Cirrhosis, Renal Fa... ORPHA:53693
Coach Syndrome 1
Hepatic fibrosis, Unilateral renal agenesis, Elevated circulating hepatic transaminase concentrat... OMIM:216360
Familial Mediterranean Fever
Neutrophilia, Erysipelas, Stage 5 chronic kidney disease, Pleural effusion, Splenomegaly, Leukocy... OMIM:249100
Familial Cold Autoinflammatory Syndrome 2
Recurrent aphthous stomatitis, Leukocytosis, Skin rash, Splenomegaly, Lymphadenopathy, Arthritis,... OMIM:611762
7Q11.23 Microduplication Syndrome
Congenital diaphragmatic hernia, Cryptorchidism, Polyphagia, High palate, Motor stereotypy, Hypos... ORPHA:96121
Immunodeficiency 77
Cellulitis, Recurrent tonsillitis, Bronchiectasis, Cutaneous abscess OMIM:619223
Autoinflammation With Episodic Fever And Lymphadenopathy
Recurrent tonsillitis, Microcytic anemia, Splenomegaly, Lymphadenopathy, Hepatomegaly OMIM:618852
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
Pneumonia, Recurrent upper respiratory tract infections, Absent natural killer cells, Failure to ... OMIM:600802
Immunodeficiency With Hyper-Igm, Type 1
Hepatitis, Absence of lymph node germinal center, Failure to thrive, Hemolytic anemia, Splenomega... OMIM:308230
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5
Pneumonia, Flexion contracture, Right ventricular hypertrophy, Elevated circulating creatine kina... OMIM:253700
X-Linked Centronuclear Myopathy
Pneumonia, High palate, Recurrent respiratory infections ORPHA:596
Mosaic Variegated Aneuploidy Syndrome
Ventriculomegaly, Multicystic kidney dysplasia, Abnormal lung lobation, Ascites, Stomach cancer, ... ORPHA:1052
Leukocyte Adhesion Deficiency
Lymphocytic interstitial pneumonia, Impaired neutrophil chemotaxis, Acute myeloid leukemia, Glome... ORPHA:2968
Autoinflammation With Pulmonary And Cutaneous Vasculitis
Recurrent upper respiratory tract infections, Interstitial pneumonitis, Splenomegaly, Anemia, Hep... OMIM:620296
Ossification Anomalies-Psychomotor Developmental Delay Syndrome
Recurrent aspiration pneumonia, Ventriculomegaly, Gastroesophageal reflux, Elevated circulating h... ORPHA:73230
Neutral Lipid Storage Myopathy
Elevated circulating hepatic transaminase concentration, Abnormal circulating creatine kinase con... ORPHA:98908
Erythroleukemia, Familial, Susceptibility To
Leukemia, Erythroid hyperplasia, Splenomegaly, Anemia, Acute myeloid leukemia, Thrombocytopenia, ... OMIM:133180
Morgagni-Stewart-Morel Syndrome
Obesity, Abnormality of the thyroid gland, Hyperuricemia, Hirsutism, Hypothyroidism, Hypercholest... ORPHA:77296
Angelman Syndrome
Self-injurious behavior, Gastroesophageal reflux, Precocious puberty in females, Fair hair, Delay... ORPHA:72
Immunodeficiency, Common Variable, 12, With Autoimmunity
Atrophic gastritis, Alopecia, Recurrent pneumonia, Autoimmune hemolytic anemia, Recurrent sinusit... OMIM:616576
3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Dicarboxylic aciduria, Hypoketotic hypoglycemia, Hepatic necrosis, Fulminant hepatic failure, Hep... OMIM:231530
Gaucher Disease
Pancytopenia, Hematuria, Cirrhosis, Elevated circulating C-reactive protein concentration, Hepato... ORPHA:355
Biliary, Renal, Neurologic, And Skeletal Syndrome
Lateral ventricle dilatation, Cholestasis, Hyperbilirubinemia, Dark urine, Congenital hepatic fib... OMIM:619534
Adams-Oliver Syndrome 6
Hepatic fibrosis, Renal hypoplasia, Portal hypertension, Splenomegaly, Esophageal varix OMIM:616589
Mitochondrial Complex Iv Deficiency, Nuclear Type 5
Highly arched eyebrow, Hypospadias, Ketonuria, Failure to thrive, Anteriorly placed anus, Hypogly... OMIM:220111
Lactase Deficiency, Congenital
Decreased small intestinal mucosa lactase level OMIM:223000
Microcephaly, Congenital Cataract, And Psoriasiform Dermatitis
Failure to thrive, Hypocholesterolemia, Psoriasiform dermatitis, Decreased LDL cholesterol concen... OMIM:616834
Cystic Fibrosis
Nasal polyposis, Gastroesophageal reflux, Elevated circulating hepatic transaminase concentration... ORPHA:586
Familial Pancreatic Carcinoma
Peritoneal abscess, Elevated circulating hepatic transaminase concentration, Intestinal pseudo-ob... ORPHA:1333
Vascular Hyalinosis
Premature graying of hair, Protein-losing enteropathy, Hematochezia, Chorioretinal scar OMIM:277175
Hyperlipoproteinemia, Type Ii, And Deafness
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia OMIM:144300
Combined Oxidative Phosphorylation Deficiency 51
Small for gestational age, Aspiration pneumonia OMIM:619057
Kagami-Ogata Syndrome
Frontal hirsutism, Splenomegaly, Inguinal hernia, Omphalocele, Hepatomegaly, Flexion contracture,... OMIM:608149
Relapsing Polychondritis
Alopecia, Uveitis, Keratitis, Hepatitis, Anteriorly placed anus, Atelectasis, Recurrent aphthous ... ORPHA:728
Pick Disease Of Brain
Polyphagia, Inappropriate laughter, Motor stereotypy, Disinhibition OMIM:172700
Laron Syndrome
Hypoglycemia, Abnormality of the endocrine system, Hypercholesterolemia, Delayed puberty, Osteoar... ORPHA:633
Timothy Syndrome
Pneumonia, Bronchitis, Hypoglycemia, Hypocalcemia, Cardiomegaly, Hypothyroidism OMIM:601005
Lysinuric Protein Intolerance
Aminoaciduria, Hyperlysinuria, Intraalveolar phospholipid accumulation, Hemophagocytosis, Fine ha... OMIM:222700
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections
Atopic dermatitis, Alopecia, Recurrent pneumonia, Eczematoid dermatitis, Cutaneous abscess, Chron... OMIM:618282
Acth-Independent Macronodular Adrenal Hyperplasia 2
Increased circulating cortisol level, Increased urinary cortisol level, Hyperglycemia, Decreased ... OMIM:615954
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Ankle flexion contracture, Ventriculomegaly, Gastroesophageal reflux, Small for gestational age, ... ORPHA:464311
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked
Congenital shortened small intestine, Intestinal pseudo-obstruction, Intestinal malrotation, Hydr... OMIM:300048
Trichohepatoneurodevelopmental Syndrome
Recurrent otitis media, Increased serum bile acid concentration, Decreased body weight, Curly hai... OMIM:618268
Obesity, Hyperphagia, And Developmental Delay
Polyphagia, Obesity, Motor stereotypy OMIM:613886
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome
Recurrent hypoglycemia, Recurrent otitis media, Alopecia totalis, Psoriasiform dermatitis, Recurr... ORPHA:293978
Immunodeficiency 57 With Autoinflammation
Inflammation of the large intestine, Reduced natural killer cell count, Failure to thrive, Skin r... OMIM:618108
Tangier Disease
Decreased HDL cholesterol concentration, Nail dystrophy, Splenomegaly, Elevated circulating apoli... OMIM:205400
Fucosidosis
Failure to thrive, Recurrent respiratory infections, Oligosacchariduria, Thick eyebrow, Splenomeg... OMIM:230000
Macrocephaly/Autism Syndrome
Coarse hair, Recurrent otitis media, Lymphopenia, Obesity, Large for gestational age, Penile frec... OMIM:605309
Heterotaxy, Visceral, 5, Autosomal
Total anomalous pulmonary venous return, Renal hypoplasia, Pulmonary artery atresia, Abdominal si... OMIM:270100
Helsmoortel-Van Der Aa Syndrome
Lateral ventricle dilatation, Ankyloglossia, Cryptorchidism, Polyphagia, Motor stereotypy, Dyspha... OMIM:615873
American Trypanosomiasis
Skin rash, Splenomegaly, Infectious encephalitis, Aganglionic megacolon, Achalasia, Lymphadenopat... ORPHA:3386
Primary Myelofibrosis
Extramedullary hematopoiesis, Anorexia, Hepatosplenomegaly, Pancytopenia, Portal hypertension, Sp... ORPHA:824
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency
Self-injurious behavior, Ankle flexion contracture, Ventriculomegaly, Unilateral renal agenesis, ... ORPHA:468631
Acquired Idiopathic Sideroblastic Anemia
Normocytic anemia, Bone marrow hypocellularity, Megaloblastic erythroid hyperplasia, Hypochromic ... ORPHA:75564
Waardenburg Syndrome Type 3
Atelectasis, Thick eyebrow, White hair, Camptodactyly of finger ORPHA:896
Hajdu-Cheney Syndrome
Coarse hair, Periodontitis, Failure to thrive, Umbilical hernia, Intestinal malrotation, Thick ey... ORPHA:955
Bardet-Biedl Syndrome 9
Polydipsia, Hyperglycemia, Obesity, Renal insufficiency, Polyphagia, Truncal obesity OMIM:615986
Senior-Boichis Syndrome
Chronic kidney disease, Abnormal urinary electrolyte concentration, Cholestasis, Hepatosplenomega... ORPHA:84081
Familial Adenomatous Polyposis
Stomach cancer, Hepatoblastoma, Desmoid tumors, Neoplasm of the adrenal gland, Colorectal polypos... ORPHA:733
Subcutaneous Panniculitis-Like T-Cell Lymphoma
Hepatosplenomegaly, Panniculitis, Weight loss, Hemophagocytosis ORPHA:86884
Dilated Cardiomyopathy With Ataxia
Elevated circulating hepatic transaminase concentration, Elevated circulating glutaric acid conce... ORPHA:66634
Coffin-Siris Syndrome
Recurrent upper respiratory tract infections, Prominent eyelashes, Hypertrichosis, Aspiration pne... ORPHA:1465
Chanarin-Dorfman Syndrome
Hepatomegaly, Alopecia, Hepatic steatosis OMIM:275630
Man1B1-Cdg
Sparse eyebrow, Abnormal position of hair whorl, Long eyelashes, Polyphagia, Truncal obesity, Lon... ORPHA:397941
Familial Nasal Acilia
Recurrent upper respiratory tract infections, Atelectasis, Chronic sinusitis, Chronic rhinitis, B... ORPHA:922
3-Methylcrotonyl-Coa Carboxylase 1 Deficiency
Acute hepatic steatosis, Ketonuria, Elevated urinary 3-methylcrotonylglycine level, Failure to th... OMIM:210200
Dubowitz Syndrome
Gastroesophageal reflux, Aplastic anemia, Velopharyngeal insufficiency, Sparse lateral eyebrow, E... OMIM:223370
Tyrosinemia, Type I
Acute hepatic failure, Cirrhosis, Glomerular sclerosis, Hepatomegaly, Gastrointestinal hemorrhage... OMIM:276700
Roifman-Chitayat Syndrome
Pneumonia, Ventriculomegaly, Umbilical hernia, Arthritis, Ectopic kidney OMIM:613328
Poikiloderma With Neutropenia
Sparse eyebrow, Recurrent pneumonia, Sparse lateral eyebrow, Recurrent otitis media, Leukopenia, ... OMIM:604173
Postinfectious Vasculitis
Pneumonia, Bacterial endocarditis, Inflammatory abnormality of the skin, Elevated haptoglobin lev... ORPHA:48435
Cinca Syndrome
Abnormality of neutrophils, Leukocytosis, Splenomegaly, Inflammatory abnormality of the eye, Anem... ORPHA:1451
Sclerosing Cholangitis, Neonatal
Hepatic bridging fibrosis, Hepatic failure, Portal fibrosis, Biliary cirrhosis, Cholestasis, Asci... OMIM:617394
Spondyloenchondrodysplasia
Pneumonia, Chronic kidney disease, Ventriculomegaly, Granuloma, Hepatitis, Decreased response to ... ORPHA:1855
Kleine-Levin Syndrome
Polydipsia, Abnormal eating behavior, Sweet craving, Polyphagia, Repetitive compulsive behavior, ... ORPHA:33543
Porphyria, Congenital Erythropoietic
Joint contracture of the hand, Atypical scarring of skin, Cholelithiasis, Alopecia, Conjunctiviti... OMIM:263700
Meconium Aspiration Syndrome
Pneumothorax, Maternal diabetes, Atelectasis, Aspiration pneumonia ORPHA:70588
Mosaic Variegated Aneuploidy Syndrome 1
Hypospadias, Ventriculomegaly, Small for gestational age, Multicystic kidney dysplasia, Cryptorch... OMIM:257300
Mucopolysaccharidosis Type 1
Splenomegaly, Inguinal hernia, Low anterior hairline, Hernia, Generalized hirsutism, Mucopolysacc... ORPHA:579
Dopamine Beta-Hydroxylase Deficiency
Insulin resistance, Elevated urinary dopamine level, Hypoglycemia, Elevated circulating creatinin... ORPHA:230
Trichothiodystrophy 3, Photosensitive
Meckel diverticulum, Failure to thrive, Bilateral cryptorchidism, Trichorrhexis nodosa, Lymphopen... OMIM:616395
Immunodeficiency 98 With Autoinflammation, X-Linked
Bone marrow hypocellularity, Type I diabetes mellitus, Hemophagocytosis, Agranulocytosis, Recurre... OMIM:301078
Beta-Thalassemia, Dominant Inclusion Body Type
Persistence of hemoglobin F, Microcytic anemia, Increased HbA2 hemoglobin, Splenomegaly, Erythroc... OMIM:603902
Farber Lipogranulomatosis
Failure to thrive, Splenomegaly, Lipogranulomatosis, Arthritis, Hepatomegaly OMIM:228000
Mitochondrial Complex Iv Deficiency, Nuclear Type 1
Aminoaciduria, Glycosuria, Decreased liver function, Failure to thrive, Hyperphosphaturia, Renal ... OMIM:220110
Beta-Thalassemia
Cholelithiasis, Hepatitis, Microcytic anemia, Splenomegaly, Abnormal hemoglobin, Hypogonadotropic... ORPHA:848
Combined Oxidative Phosphorylation Deficiency 12
Failure to thrive, Cholestasis, Elevated circulating aspartate aminotransferase concentration, El... OMIM:614924
Combined Oxidative Phosphorylation Deficiency 11
Renal hypoplasia, Decreased liver function, Renal insufficiency, Hepatic steatosis, Renal tubular... OMIM:614922
Marbach-Rustad Progeroid Syndrome
Insulin resistance, Reduced subcutaneous adipose tissue OMIM:619322
X-Linked Alport Syndrome-Diffuse Leiomyomatosis
Nephropathy, Chronic kidney disease, Gastroesophageal reflux, Keratitis, Failure to thrive, Aspir... ORPHA:1018
Aicardi-Goutieres Syndrome 1
Elevated circulating hepatic transaminase concentration, Splenomegaly, Chilblains, Self-mutilatio... OMIM:225750
Red Cell Phospholipid Defect With Hemolysis
Hyperbilirubinemia, Reticulocytosis, Splenomegaly, Intermittent jaundice OMIM:179700
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis
Hepatic fibrosis, Hepatic failure, Alopecia, Sparse eyebrow, Cholestasis, Portal hypertension, Sp... OMIM:607626
Wiedemann-Rautenstrauch Syndrome
Increased circulating prolactin concentration, Recurrent otitis media, Slender build, Increased s... ORPHA:3455
Intellectual Developmental Disorder, Autosomal Dominant 1
Self-injurious behavior, Highly arched eyebrow, Gastroesophageal reflux, Bruxism, Long eyelashes,... OMIM:156200
Dyskeratosis Congenita, Autosomal Dominant 1
Bone marrow hypocellularity, Alopecia, Aplastic anemia, Oral leukoplakia, Increased mean corpuscu... OMIM:127550
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction
Elevated circulating thyroid-stimulating hormone concentration, Atelectasis, Cystic pattern on pu... OMIM:610978
Neonatal Lupus Erythematosus
Hepatic failure, Elevated circulating hepatic transaminase concentration, Aplastic anemia, Abnorm... ORPHA:398124
Idiopathic Hypereosinophilic Syndrome
Inflammatory abnormality of the skin, Hepatosplenomegaly, Thrombocytosis, Erythroderma, Neutrophi... ORPHA:3260
Fructose Intolerance, Hereditary
Gastrointestinal hemorrhage, Elevated circulating hepatic transaminase concentration, Proximal tu... OMIM:229600
Meckel Syndrome, Type 1
Abnormality of the ureter, Cryptorchidism, Anal atresia, Polycystic kidney dysplasia, Bile duct p... OMIM:249000
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy
Aminoaciduria, Glycosuria, Decreased liver function, Failure to thrive, Hyperphosphaturia, Renal ... ORPHA:436271
Myotubular Myopathy With Abnormal Genital Development
Atelectasis, Bilateral cryptorchidism, Glandular hypospadias, Penile hypospadias, Micropenis, Uni... OMIM:300219
Bile Acid Malabsorption, Primary, 1
Steatorrhea, Increased fecal bile acid, Fat malabsorption, Failure to thrive OMIM:613291
Lymphatic Malformation 6
Cellulitis, Gastroesophageal reflux, Chylothorax, Intestinal lymphangiectasia, Ascites, Pleural e... OMIM:616843
Luscan-Lumish Syndrome
Ventriculomegaly, High anterior hairline, Recurrent otitis media, Obesity, Hirsutism, Polycystic ... OMIM:616831
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2
Lateral ventricle dilatation, Elbow flexion contracture, Large for gestational age, Vesicouretera... OMIM:300868
Apolipoprotein C-Ii Deficiency
Increased circulating chylomicron concentration, Splenomegaly, Pancreatitis, Hypercholesterolemia... OMIM:207750
Familial Mediterranean Fever
Nephropathy, Acute hepatic failure, Intestinal obstruction, Nephrotic syndrome, Erysipelas, Ascit... ORPHA:342
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Increased circulating iron concentration, Increased circulating ferritin concentration, Reduced r... ORPHA:766
Autoimmune Lymphoproliferative Syndrome
Chronic noninfectious lymphadenopathy, Splenomegaly, Autoimmune hemolytic anemia, Follicular hype... OMIM:601859
Cholestasis, Progressive Familial Intrahepatic, 3
Intrahepatic cholestasis, Elevated circulating hepatic transaminase concentration, Portal inflamm... OMIM:602347
Peroxisome Biogenesis Disorder 5A (Zellweger)
Cholestasis, Hepatosplenomegaly, Cryptorchidism, Elevated circulating alanine aminotransferase co... OMIM:614866
Congenital Tracheal Stenosis
Fetal ascites, Abnormal lung morphology, Meckel diverticulum, Duodenal stenosis, Abnormal stomach... ORPHA:141127
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18
Elevated circulating hepatic transaminase concentration, Esophagitis, Hepatic steatosis, Elevated... OMIM:615356
Gardner Syndrome
Gastrointestinal carcinoma, Keloids, Lipoma, Adrenocortical adenoma, Adenomatous colonic polyposi... ORPHA:79665
Hyperaldosteronism, Familial, Type Iii
Polydipsia, Hyperaldosteronism, Adrenal hyperplasia, Decreased circulating renin level, Hypokalem... OMIM:613677
Plague
Inflammation of the large intestine, Lymphadenitis, Chapped lip, Enlarged mesenteric lymph node, ... ORPHA:707
Chédiak-Higashi Syndrome
Periodontitis, Hemophagocytosis, Hepatosplenomegaly, Pancytopenia, Neutropenia, Jaundice, Hypopro... ORPHA:167
Pgm3-Cdg
Allergic rhinitis, Abnormal CD4:CD8 ratio, Lymphopenia, Esophagitis, Decreased proportion of CD4-... ORPHA:443811
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia
Cellulitis, Hematochezia, Inflammation of the large intestine, Recurrent pneumonia, Decreased mea... OMIM:617718
Distal Myopathy, Tateyama Type
Abnormal circulating creatine kinase concentration, Hypercholesterolemia ORPHA:488650
Listeriosis
Arteritis, Abscess, Pustule, Jaundice, Endocarditis, Acute kidney injury, Osteomyelitis, Peritoni... ORPHA:533
Wiedemann-Rautenstrauch Syndrome
Reduced subcutaneous adipose tissue, Cryptorchidism, Sparse eyelashes, Absent eyelashes, Absent e... OMIM:264090
Hyperaldosteronism, Familial, Type I
Hyperaldosteronism, Adrenogenital syndrome, Adrenal hyperplasia, Decreased circulating renin level OMIM:103900
Umbilical Cord Ulceration-Intestinal Atresia Syndrome
Anemia, Intestinal atresia, Duodenal atresia ORPHA:3405
Autoinflammatory Syndrome, Familial, Behcet-Like 1
Lymphopenia, Skin rash, Ileal ulcer, Thrombocytopenia, Colitis, Hemolytic anemia, Anterior uveitis OMIM:616744
Frontotemporal Dementia
Polyphagia, Inappropriate laughter, Disinhibition OMIM:600274
Sepsis In Premature Infants
Oliguria, Decreased liver function, Functional abnormality of the gastrointestinal tract, Leukocy... ORPHA:90051
Alpha-Mannosidosis, Infantile Form
Pneumonia, Highly arched eyebrow, Oligosacchariduria, Umbilical hernia, Hepatosplenomegaly, Pancy... ORPHA:309282
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Ankyloglossia, Hyperbilirubinemia, Hepatic steatosis, Decreased body weight, Hematuria, Jaundice,... OMIM:619475
Adult Acute Respiratory Distress Syndrome
Pneumonia, Pulmonary edema, Pancreatitis, Diabetic ketoacidosis ORPHA:70578
Sea-Blue Histiocytosis
Sea-blue histiocytosis, Splenomegaly, Thrombocytopenia, Hepatomegaly, Mediastinal lymphadenopathy... ORPHA:158029
Hennekam Syndrome
Chylothorax, Erysipelas, Camptodactyly of finger, Ascites, Lymphopenia, Horseshoe kidney, Splenom... ORPHA:2136
Waldenström Macroglobulinemia
Normocytic anemia, Gastrointestinal hemorrhage, Leukemia, Pleural effusion, Splenomegaly, Renal i... ORPHA:33226
Pigmented Nodular Adrenocortical Disease, Primary, 3
Increased circulating cortisol level, Adrenal hyperplasia OMIM:614190
Colonic Atresia
Peptic ulcer, Abdominal situs inversus, Colonic atresia, Duodenal stenosis, Abnormal mesentery mo... ORPHA:1198
Histiocytosis-Lymphadenopathy Plus Syndrome
Hepatosplenomegaly, Joint contracture of the 5th finger, Flexion contracture of finger, Hepatomeg... OMIM:602782
Sitosterolemia 1
Stomatocytosis, Giant platelets, Hyperapobetalipoproteinemia, Xanthelasma, Splenomegaly, Reduced ... OMIM:210250
Gm1-Gangliosidosis, Type Ii
Ventriculomegaly, Failure to thrive, Sea-blue histiocytosis, Splenomegaly, Protruding tongue, Hep... OMIM:230600
Immunodeficiency 13
Recurrent pneumonia, Recurrent upper respiratory tract infections, Nasal polyposis, Recurrent oti... OMIM:615518
Estrogen Resistance Syndrome
Absence of secondary sex characteristics, Breast hypoplasia, Hyperinsulinemia, Glucose intoleranc... ORPHA:785
Fetal Cytomegalovirus Syndrome
Ventriculomegaly, Elevated circulating hepatic transaminase concentration, Hepatitis, Splenomegal... ORPHA:294
Leukocyte Adhesion Deficiency, Type Iii
Extramedullary hematopoiesis, Abnormal lymph node morphology, Hepatosplenomegaly, Leukocytosis, S... OMIM:612840
Mitochondrial Trifunctional Protein Deficiency
Cholestasis, Failure to thrive in infancy, Hypoketotic hypoglycemia, Hypocalcemia, Chronic hepati... ORPHA:746
Primary Unilateral Adrenal Hyperplasia
Polydipsia, Increased urinary potassium, Adrenal hyperplasia, Decreased circulating renin level, ... ORPHA:231580
Complement Factor B Deficiency
Pneumonia, Peritonitis OMIM:615561
Congenital Disorder Of Glycosylation, Type Iie
Gastroesophageal reflux, Failure to thrive, Decreased liver function, Hypertrichosis, Hypoglycemi... OMIM:608779
Glycogen Storage Disease Ic
Focal segmental glomerulosclerosis, Inflammation of the large intestine, Recurrent upper respirat... OMIM:232240
Good Syndrome
Thymoma, Mediastinal lymphadenopathy, Aplasia/Hypoplasia of the thymus, Abnormal leukocyte morpho... ORPHA:169105
Combined Oxidative Phosphorylation Deficiency 37
Hypoalbuminemia, Elevated circulating hepatic transaminase concentration, Failure to thrive, Decr... OMIM:618329
Transaldolase Deficiency
Hepatic fibrosis, Micronodular cirrhosis, Decreased liver function, Failure to thrive, Hepatosple... OMIM:606003
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Hepatic fibrosis, Cholelithiasis, Bacterial endocarditis, Ventriculomegaly, Abnormal temper tantr... ORPHA:2072
Immunodeficiency 36 With Lymphoproliferation
Recurrent upper respiratory tract infections, Lymphopenia, Splenomegaly, Chronic lymphatic leukem... OMIM:616005
Feingold Syndrome 1
Accessory spleen, Annular pancreas, Polysplenia, Jejunal atresia, Tracheoesophageal fistula, Esop... OMIM:164280
Anemia, Congenital Dyserythropoietic, Type Ib
Erythroid hyperplasia, Splenomegaly, Reticulocytosis, Anemia of inadequate production, Anisocytos... OMIM:615631
Systemic Mastocytosis With Associated Hematologic Neoplasm
Normocytic anemia, Peptic ulcer, Chronic myelomonocytic leukemia, Leukocytosis, Splenomegaly, Chr... ORPHA:98849
Anemia, Hypochromic Microcytic, With Iron Overload 2
Increased circulating ferritin concentration, Hypogonadism, Sideroblastic anemia, Splenomegaly, A... OMIM:615234
Bile Acid Malabsorption, Primary, 2
Periportal fibrosis, Decreased circulating chenodeoxycholic acid concentration, Elevated circulat... OMIM:619481
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome
Insulin resistance, Insulin-resistant diabetes mellitus, Hirsutism, Enlarged polycystic ovaries, ... ORPHA:90301
Chronic Graft Versus Host Disease
Xerostomia, Pancytopenia, Hematuria, Weight loss, Anorexia, Bronchiolitis obliterans, Dysphagia, ... ORPHA:99921
Generalized Glucocorticoid Resistance Syndrome
Precocious puberty, Abnormal circulating testosterone concentration, Frontal balding, Increased c... ORPHA:786
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia
Pneumonia, Abnormal T cell count, Recurrent otitis media, Pyoderma, Decreased response to growth ... OMIM:307200
Alagille Syndrome 1
Focal segmental glomerulosclerosis, Hepatic failure, Elevated circulating hepatic transaminase co... OMIM:118450
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum
Inflammatory abnormality of the skin, Xerostomia, Oral-pharyngeal dysphagia, Hematuria, Neutropen... ORPHA:95455
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections
Atopic dermatitis, Recurrent pneumonia, Recurrent upper respiratory tract infections, Reduced nat... OMIM:619752
Juvenile Neuronal Ceroid Lipofuscinosis
Motor stereotypy, Dysphagia, Aspiration pneumonia ORPHA:79264
Anemia, Congenital Dyserythropoietic, Type Iv
Persistence of hemoglobin F, Hepatosplenomegaly, Hyperbilirubinemia, Reduced haptoglobin level, A... OMIM:613673
X-Linked Cerebral-Cerebellar-Coloboma Syndrome
Ventriculomegaly, Meckel diverticulum, Hydrocephalus, Dysphagia, Dandy-Walker malformation ORPHA:163961
Combined Immunodeficiency Due To Partial Rag1 Deficiency
Interstitial pneumonitis, Splenomegaly, Autoimmune hemolytic anemia, Neutropenia in presence of a... ORPHA:231154
Hennekam-Beemer Syndrome
Pneumonia, Mastocytosis, Ventriculomegaly, Failure to thrive, Camptodactyly of finger, High palate ORPHA:2135
Apc-Related Attenuated Familial Adenomatous Polyposis
Gastrointestinal carcinoma, Adrenocortical adenoma, Duodenal adenocarcinoma, Duodenal polyposis, ... ORPHA:247806
Weaver Syndrome
Joint contracture of the hand, Ventriculomegaly, Lateral ventricle dilatation, Fine hair, Umbilic... OMIM:277590
Autoinflammation With Arthritis And Dyskeratosis
Failure to thrive, Hypereosinophilia, Splenomegaly, Autoimmune hemolytic anemia, Punctate keratit... OMIM:617388
Glycogen Storage Disease Ii
Urinary incontinence, Pleural effusion, Splenomegaly, Elevated circulating creatine kinase concen... OMIM:232300
Lipoid Congenital Adrenal Hyperplasia
Congenital adrenal hyperplasia, Renal salt wasting, Adrenogenital syndrome, Hypospadias OMIM:201710
Kleine-Levin Hibernation Syndrome
Polyphagia OMIM:148840
Congenital Enterocyte Heparan Sulfate Deficiency
Hypoalbuminemia, Protein-losing enteropathy, Hematochezia, Abnormal circulating protein concentra... ORPHA:103910
Mirror Polydactyly-Vertebral Segmentation-Limbs Defects Syndrome
Aplasia of the thymus, Duodenal atresia ORPHA:3004
Inflammatory Bowel Disease (Crohn Disease) 30
Protein-losing enteropathy, Esophagitis, Pancolitis, Ileitis, Abnormal intestine morphology, Gast... OMIM:619079
Ehlers-Danlos Syndrome, Musculocontractural Type, 1
Ventriculomegaly, Umbilical hernia, Intestinal malrotation, Atrophic scars, Cryptorchidism, Hiatu... OMIM:601776
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities
Self-injurious behavior, Bifid uvula, Recurrent pneumonia, Fixated interests, Eczematoid dermatit... OMIM:620330
Glycosylphosphatidylinositol Biosynthesis Defect 1
Portal vein thrombosis, Hepatomegaly, Portal hypertension, Splenomegaly OMIM:610293
Severe Generalized Junctional Epidermolysis Bullosa
Multicystic kidney dysplasia, Ureterocele, Urethral stricture, Abnormal blood ion concentration, ... ORPHA:79404
Mitochondrial Complex Iii Deficiency, Nuclear Type 1
Aminoaciduria, Periportal fibrosis, Elevated circulating hepatic transaminase concentration, Fail... OMIM:124000
Hermansky-Pudlak Syndrome 10
Albinism, Splenomegaly, Neutropenia, Hepatomegaly, Abnormal pulmonary interstitial morphology, Re... OMIM:617050
Pancreatic Colipase Deficiency
Cholelithiasis, Exocrine pancreatic insufficiency, Megaloblastic anemia, Steatorrhea, Fat malabso... ORPHA:309108
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart
Ventriculomegaly, Gastroesophageal reflux, Annular pancreas, Furrowed tongue, Widow's peak, Vesic... OMIM:616975
Idiopathic Pulmonary Fibrosis
Reticular pattern on pulmonary HRCT, Usual interstitial pneumonia, Gastroesophageal reflux, Honey... ORPHA:2032
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia
Recurrent respiratory infections, Intraalveolar phospholipid accumulation, Splenomegaly, Leukocyt... OMIM:618042
Agammaglobulinemia, X-Linked
Recurrent pneumonia, Bronchiectasis, Recurrent otitis media, Pyoderma, Lymph node hypoplasia, Rec... OMIM:300755
Familial Adenomatous Polyposis 1
Keloids, Adrenocortical adenoma, Duodenal adenocarcinoma, Duodenal polyposis, Multiple gastric po... OMIM:175100
Desmosterolosis
Bifid uvula, Ventriculomegaly, Failure to thrive, Intestinal malrotation, Splenomegaly, Submucous... ORPHA:35107
X-Linked Acrogigantism
Pituitary adenoma, Increased circulating prolactin concentration, Fasting hyperinsulinemia, Hypop... ORPHA:300373
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement
Restlessness, Fine hair, Decreased testicular size, Cryptorchidism, Self-mutilation, Polyphagia, ... ORPHA:251028
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects
Unilateral renal agenesis, Hypertrichosis, Submucous cleft hard palate, Low posterior hairline, A... OMIM:619227
Pseudohypoparathyroidism Type 1C
Pituitary resistance to thyroid hormone, Hyperphosphatemia, Elevated circulating parathyroid horm... ORPHA:79444
Charge Syndrome
Lymphopenia, Cryptorchidism, Hypoparathyroidism, Anal atresia, Dysphagia, Duodenal atresia, Parat... OMIM:214800
Combined Oxidative Phosphorylation Deficiency 27
Hyperammonemia, Failure to thrive, Microvesicular hepatic steatosis OMIM:616672
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Hypoalbuminemia, Hypermethioninemia, Hepatic failure, Elevated circulating hepatic transaminase c... OMIM:617156
Prolidase Deficiency
White forelock, Splenomegaly, Low anterior hairline, Generalized hirsutism, Hirsutism, Crusting e... ORPHA:742
Pigmentary Disorder, Reticulate, With Systemic Manifestations, X-Linked
Recurrent pneumonia, Failure to thrive in infancy, Corneal scarring, Frontal upsweep of hair, Ure... OMIM:301220
Intellectual Developmental Disorder, Autosomal Dominant 68
Gastroesophageal reflux, Joint contracture of the 5th finger, Hepatic steatosis, Attention defici... OMIM:619934
Kaposiform Lymphangiomatosis
Hepatosplenomegaly, Pleural effusion, Splenomegaly, Lymphangioma, Abnormality of the lymphatic sy... ORPHA:464329
Niemann-Pick Disease Type C
Hepatic failure, Fetal ascites, Aspiration pneumonia, Ascites, Hepatosplenomegaly, Abnormality of... ORPHA:646
Cryptococcosis
Pneumonia, Osteomyelitis, Nodular pattern on pulmonary HRCT, Pleural effusion, Peritonitis, Cirrh... ORPHA:1546
Spinocerebellar Ataxia With Axonal Neuropathy Type 1
Hypoalbuminemia, Hypercholesterolemia ORPHA:94124
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome
Abnormal blood inorganic cation concentration, Elevated circulating hepatic transaminase concentr... ORPHA:309854
Gaucher Disease, Type I
Hypersplenism, Pancytopenia, Splenomegaly, Anemia, Thrombocytopenia, Hepatomegaly, Abnormal pulmo... OMIM:230800
Hemorrhagic Fever-Renal Syndrome
Chronic kidney disease, Hyperphosphatemia, Decreased body weight, Pulmonary edema, Hematuria, Glo... ORPHA:340
Estrogen Resistance
Breast aplasia, Hyperinsulinemia, Glucose intolerance, Increased serum estradiol, Polycystic ovar... OMIM:615363
Acquired Aneurysmal Subarachnoid Hemorrhage
Hypopituitarism, Hyperglycemia, Leukocytosis, Left ventricular hypertrophy, Hypothyroidism, Hyper... ORPHA:90065
Hyperlipoproteinemia, Type I
Lactescent serum, Increased circulating chylomicron concentration, Hepatosplenomegaly, Hyperlipid... OMIM:238600
Tangier Disease
Hypocholesterolemia, Hepatosplenomegaly, Chronic noninfectious lymphadenopathy, Nail dystrophy, L... ORPHA:31150
Orofaciodigital Syndrome Viii
Recurrent aspiration pneumonia, High palate, Cleft palate OMIM:300484
Cranioectodermal Dysplasia 2
Sparse eyebrow, Portal fibrosis, Elevated circulating hepatic transaminase concentration, Biliary... OMIM:613610
Beckwith-Wiedemann Syndrome
Nephropathy, Congenital diaphragmatic hernia, Cryptorchidism, Hepatoblastoma, Hepatomegaly, Neona... ORPHA:116
Alpha-Thalassemia
Cholelithiasis, Extramedullary hematopoiesis, Microcytic anemia, Hemoglobin Barts, Hepatosplenome... ORPHA:846
Immunodeficiency 12
Recurrent aphthous stomatitis, Skin rash, Decreased body weight, Abnormal lymphocyte count, Recur... OMIM:615468
Mitochondrial Complex I Deficiency, Nuclear Type 20
Hepatic failure, Elevated circulating hepatic transaminase concentration, Hypoglycemia, Dicarboxy... OMIM:611126
Nephronophthisis 19
Malformation of the hepatic ductal plate, Hepatic fibrosis, Nephronophthisis, Cholestasis, Stage ... OMIM:616217
Intellectual Developmental Disorder, Autosomal Dominant 53
Intestinal malrotation, Frontal upsweep of hair, Cryptorchidism, Hydronephrosis, Gastrointestinal... OMIM:617798
Tarp Syndrome
Failure to thrive, Extramedullary hematopoiesis, Horseshoe kidney, Thick eyebrow, Cryptorchidism,... ORPHA:2886
Infant Acute Respiratory Distress Syndrome
Pneumonia, Pulmonary edema, Respiratory tract infection, Atelectasis ORPHA:70587
Metachromatic Leukodystrophy
Addictive behavior, Abnormal stomach morphology, Abnormal duodenum morphology, Abnormal gallbladd... ORPHA:512
Disordered Steroidogenesis Due To Cytochrome P450 Oxidoreductase Deficiency
Congenital adrenal hyperplasia, Increased circulating ACTH level OMIM:613571
Keutel Syndrome
Peripheral pulmonary artery stenosis, Pulmonary artery hypoplasia, Recurrent otitis media, Emphys... OMIM:245150
Hemophagocytic Syndrome Associated With An Infection
Elevated circulating hepatic transaminase concentration, Hemophagocytosis, Increased circulating ... ORPHA:158048
Mucolipidosis Ii Alpha/Beta
Increased serum beta-hexosaminidase, Sparse eyebrow, Recurrent pneumonia, Failure to thrive, Umbi... OMIM:252500
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1
Hypoalbuminemia, Hypercholesterolemia OMIM:607250
Infantile Neuroaxonal Dystrophy
Aspiration pneumonia, Hyperactivity, Choking episodes, Flexion contracture, Impulsivity ORPHA:35069
Autoinflammatory Disease, Systemic, With Vasculitis
Cholestasis, Hepatosplenomegaly, Elevated circulating alanine aminotransferase concentration, Ele... OMIM:620376
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency
Recurrent pneumonia, Absent natural killer cells, Failure to thrive in infancy, Lymphopenia, Hepa... ORPHA:35078
Ciliary Dyskinesia, Primary, 35
Recurrent pneumonia, Bronchiectasis, Nasal polyposis, Abdominal situs ambiguus, Chronic sinusitis... OMIM:617092
Kaufman Oculocerebrofacial Syndrome
Sparse eyebrow, Ventriculomegaly, Failure to thrive, Intestinal malrotation, Hypocholesterolemia,... OMIM:244450
Riddle Syndrome
Pneumonia, Enuresis nocturna, Recurrent pneumonia, Bronchitis, Otitis media, Recurrent sinusitis,... ORPHA:420741
Mitochondrial Complex Ii Deficiency, Nuclear Type 3
Ketonuria, Aspiration pneumonia, Left ventricular hypertrophy, Lacticaciduria, Hepatomegaly OMIM:619167
Pyruvate Kinase Deficiency Of Red Cells
Cholelithiasis, Unconjugated hyperbilirubinemia, Reduced red cell pyruvate kinase level, Erythroi... OMIM:266200
Classic Pantothenate Kinase-Associated Neurodegeneration
Attention deficit hyperactivity disorder, Weight loss, Dysphagia, Aspiration pneumonia ORPHA:216866
Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease
Microcolon, Premature graying of hair, Hypogonadism, Abnormal eyebrow morphology, Ileus, Splenome... ORPHA:163746
Renal Glucosuria
Enuresis nocturna, Polydipsia, Glycosuria, Polyphagia, Polyuria OMIM:233100
Nephrotic Syndrome, Type 11
Hypoalbuminemia, Minimal change glomerulonephritis, Focal segmental glomerulosclerosis, Stage 5 c... OMIM:616730
Doors Syndrome
Increased urine alpha-ketoglutarate concentration, Nephrocalcinosis, Gastroesophageal reflux, Asp... ORPHA:79500
Hypocalcemic Vitamin D-Dependent Rickets
Generalized aminoaciduria, Hypochromic anemia, Elevated circulating parathyroid hormone level, Fa... ORPHA:289157
Immunodeficiency 23
Allergic rhinitis, Eczematoid dermatitis, Chronic mucocutaneous candidiasis, Recurrent respirator... OMIM:615816
Fanconi Anemia
Aplasia/Hypoplasia of the uvula, Cryptorchidism, Weight loss, High palate, Anal atresia, Hypospad... ORPHA:84
Osteopetrosis, Autosomal Recessive 1
Failure to thrive, Osteomyelitis, Pancytopenia, Splenomegaly, Hypocalcemia, Anemia, Hydrocephalus... OMIM:259700
Mucoepithelial Dysplasia, Hereditary
Pneumonia, Alopecia, Coarse hair, Recurrent pneumonia, Chronic mucocutaneous candidiasis, Furrowe... OMIM:158310
Opitz Gbbb Syndrome
Ankyloglossia, Congenital diaphragmatic hernia, Cryptorchidism, Anal atresia, High palate, Hyposp... ORPHA:2745
Niemann-Pick Disease, Type C1
Fetal ascites, Sea-blue histiocytosis, Splenomegaly, Fatal liver failure in infancy, Prolonged ne... OMIM:257220
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies
Unilateral renal agenesis, Ventriculomegaly, Gastroesophageal reflux, Reduced natural killer cell... ORPHA:221139
Multiple Myeloma
Nephropathy, Acute kidney injury, Functional abnormality of the gastrointestinal tract, Elevated ... ORPHA:29073
Pseudohypoparathyroidism Type 1A
Pituitary resistance to thyroid hormone, Hyperphosphatemia, Elevated circulating parathyroid horm... ORPHA:79443
Atelis Syndrome 2
Gastroesophageal reflux, Elevated circulating thyroid-stimulating hormone concentration, Hyperins... OMIM:620185
Chromosome 1P36 Deletion Syndrome, Distal
Lateral ventricle dilatation, Abnormality of the hairline, Cryptorchidism, Polyphagia, High palat... OMIM:607872
Galloway-Mowat Syndrome 7
Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Eczematoid dermatitis, Sta... OMIM:618348
Hypercholanemia, Familial 1
Steatorrhea, Fat malabsorption, Failure to thrive, Increased serum bile acid concentration OMIM:607748
Behçet Disease
Weight loss, Anorexia, Endocarditis, Gastrointestinal hemorrhage, Pleural effusion, Renal insuffi... ORPHA:117
Bronchiectasis With Or Without Elevated Sweat Chloride 2
Abnormality of exocrine pancreas physiology, Recurrent bronchiolitis, Bronchiectasis, Chronic bro... OMIM:613021
Cystinosis, Nephropathic
Decreased circulating carnitine concentration, Hematuria, Hypophosphatemia, Weight loss, Hepatome... OMIM:219800
Respiratory Distress Syndrome In Premature Infants
Pulmonary edema, Atelectasis OMIM:267450
Hyperparathyroidism, Neonatal Severe
Aminoaciduria, Elevated circulating parathyroid hormone level, Failure to thrive, Polydipsia, Spl... OMIM:239200
Autoinflammatory Disease, Systemic, X-Linked
Panuveitis, Osteomyelitis, Hepatosplenomegaly, Optic neuritis, Neutropenia, B lymphocytopenia, Pa... OMIM:301081
Hb Bart'S Hydrops Fetalis
Abnormal hemoglobin, Splenomegaly, Anemia, Hydrocephalus, Hepatomegaly, Pericarditis ORPHA:163596
Glycogen Storage Disease Xii
Normocytic anemia, Cholelithiasis, Hyperbilirubinemia, Cholecystitis, Splenomegaly, Reduced hapto... OMIM:611881
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities
Aminoaciduria, Renal hypoplasia, Gastroesophageal reflux, Nephrocalcinosis, Renal artery stenosis... OMIM:617913
Cleft Velum
Velopharyngeal insufficiency, Oral-pharyngeal dysphagia, Aspiration pneumonia, Recurrent otitis m... ORPHA:99772
Hypercholesterolemia, Familial, 4
Decreased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia OMIM:603813
Spondyloenchondrodysplasia With Immune Dysregulation
Pneumonia, Rheumatoid arthritis, Recurrent otitis media, Lymphopenia, Recurrent sinusitis, T lymp... OMIM:607944
Microform Holoprosencephaly
Panhypopituitarism, Hypothyroidism, Maternal diabetes, Hypoplasia of penis, Duodenal atresia, Cle... ORPHA:280200
Reynolds Syndrome
Gastrointestinal hemorrhage, Elevated circulating hepatic transaminase concentration, Biliary cir... OMIM:613471
Congenital Erythropoietic Porphyria
Facial hypertrichosis, Reduced haptoglobin level, Increased connective tissue, Keratoconjunctivit... ORPHA:79277
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Cryptorchidism, Motor stereotypy, Hypospadias, Self-injurious behavior, Keloids, Gastroesophageal... ORPHA:353281
Microphthalmia-Microtia-Fetal Akinesia Syndrome
Hypoplasia of penis, Hydroureter, Camptodactyly of finger, Duodenal stenosis ORPHA:2547
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Ventriculomegaly, Dilated third ventricle, Gastroesophageal reflux, Elevated circulating hepatic ... ORPHA:397715
Neuroleptic Malignant Syndrome
Acute kidney injury, Elevated circulating hepatic transaminase concentration, Hyperphosphatemia, ... ORPHA:94093
Bronchiolitis Obliterans
Pneumonia, Respiratory tract infection, Bronchiolitis obliterans, Bronchiectasis ORPHA:1303
Hereditary Bullous Dystrophy, Macular Type
Pneumonia, Alopecia, Atrichia, Decreased testicular size, Nail dystrophy, Cryptorchidism, Congeni... ORPHA:1867
Visceral Myopathy 1
Microcolon, Intestinal pseudo-obstruction, Urinary retention, Megacystis, Megaduodenum, Vesicoure... OMIM:155310
Fish-Eye Disease
Hepatomegaly, Lymphadenopathy, Splenomegaly, Decreased HDL cholesterol concentration ORPHA:79292
Coffin-Siris Syndrome 1
Facial hypertrichosis, Dry hair, Congenital diaphragmatic hernia, Cryptorchidism, Dandy-Walker ma... OMIM:135900
Mucopolysaccharidosis Type 2
Hip osteoarthritis, Recurrent upper respiratory tract infections, Abnormal temper tantrums, Contr... ORPHA:580
Simpson-Golabi-Behmel Syndrome, Type 1
Exaggerated median tongue furrow, Supernumerary nipple, Congenital diaphragmatic hernia, Cryptorc... OMIM:312870
Ectodermal Dysplasia And Immunodeficiency 2
Failure to thrive, Recurrent infection of the gastrointestinal tract, Splenomegaly, Hepatomegaly,... OMIM:612132
Pneumocystosis
Interstitial pneumonitis, Pleural effusion, Multiple pulmonary cysts, Weight loss, Acute infectio... ORPHA:723
Acrodermatitis Enteropathica, Zinc-Deficiency Type
Failure to thrive, Hypogonadism, Decreased testicular size, Decreased serum testosterone concentr... OMIM:201100
Mounier-Kühn Syndrome
Pneumonia, Recurrent respiratory infections, Bronchitis, Recurrent bronchopulmonary infections ORPHA:3347
Meier-Gorlin Syndrome 7
Anal stenosis, Anteriorly placed anus, Duodenal stenosis, Breast aplasia, Thin eyebrow, Vesicoure... OMIM:617063
Congenital Alveolar Capillary Dysplasia
Annular pancreas, Volvulus, Duodenal stenosis, Intestinal malrotation, Absent gallbladder, Hydron... ORPHA:210122
Cholestasis, Progressive Familial Intrahepatic, 9
Malformation of the hepatic ductal plate, Intrahepatic cholestasis, Micronodular cirrhosis, Porta... OMIM:619849
Ciliary Dyskinesia, Primary, 42
Pneumonia, Nasal polyposis, Recurrent sinusitis, Chronic rhinitis, Bronchiectasis OMIM:618695
Crimean-Congo Hemorrhagic Fever
Morbilliform rash, Pancytopenia, Hematuria, Erythema nodosum, Neutrophilia, Hepatomegaly, Jaundic... ORPHA:99827
Chediak-Higashi Syndrome
Silver-gray hair, Periodontitis, Hemophagocytosis, Leukopenia, Giant neutrophil granules, Splenom... OMIM:214500
Hereditary Spherocytosis
Spontaneous hemolytic crises, Cholelithiasis, Increased mean corpuscular hemoglobin concentration... ORPHA:822
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome
Elevated circulating alpha-fetoprotein concentration, Anal stenosis, Gastroesophageal reflux, Rec... ORPHA:280633
Proximal Spinal Muscular Atrophy
Recurrent aspiration pneumonia, Gastroesophageal reflux, Elbow flexion contracture, Multiple join... ORPHA:70
Bronchiectasis With Or Without Elevated Sweat Chloride 1
Abnormality of exocrine pancreas physiology, Bronchiectasis, Chronic bronchitis OMIM:211400
Marshall-Smith Syndrome
Aspiration pneumonia, Cryptorchidism, Decreased body weight, Brittle hair, High palate, Sparse ha... OMIM:602535
Hereditary Pulmonary Alveolar Proteinosis
Crazy paving pattern, Failure to thrive in infancy, Elevated circulating carcinoembryonic antigen... ORPHA:264675
Hutchinson-Gilford Progeria Syndrome
Insulin resistance, Dystrophic toenail, Ankyloglossia, Alopecia totalis, Delayed menarche, Absenc... ORPHA:740
9Q31.1Q31.3 Microdeletion Syndrome
Highly arched eyebrow, Type II diabetes mellitus, Renovascular hypertension, Hypercholesterolemia... ORPHA:401923
Hepatoerythropoietic Porphyria
Seborrhoeic blepharitis, Facial hypertrichosis, Red-brown urine, Purple urine, Erythroid hyperpla... ORPHA:95159
Mucolipidosis Type Ii
Dry hair, White hair, Umbilical hernia, Fine hair, Hepatosplenomegaly, Inguinal hernia, Knee flex... ORPHA:576
Diets-Jongmans Syndrome
Umbilical hernia, Congenital diaphragmatic hernia, Inguinal hernia, Cryptorchidism, Aggressive be... OMIM:618846
Fraser Syndrome 1
Renal hypoplasia, Extension of hair growth on temples to lateral eyebrow, Abnormal small intestin... OMIM:219000
Mosaic Trisomy 16
Meckel diverticulum, Anteriorly placed anus, Horseshoe kidney, Abnormality of the gastrointestina... ORPHA:1708
Mohr-Tranebjaerg Syndrome
Attention deficit hyperactivity disorder, Dysphagia, Aspiration pneumonia ORPHA:52368
Mendelian Susceptibility To Mycobacterial Diseases Due To Complete Il12Rb1 Deficiency
Pneumonia, Salmonella osteomyelitis, Lymphadenitis ORPHA:319552
Orofaciodigital Syndrome Ix
Camptodactyly, Recurrent aspiration pneumonia, High palate, Cleft palate OMIM:258865
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome
Dentinogenesis imperfecta, Atelectasis, Atrophic scars, Multiple joint contractures, Hydrocephalu... ORPHA:536467
Ataxia-Telangiectasia
Female hypogonadism, Failure to thrive, Abnormal hair morphology, Lymphopenia, Glucose intoleranc... OMIM:208900
Craniopharyngioma
Increased circulating prolactin concentration, Hypopituitarism, Hypogonadism, Obesity, Central ad... ORPHA:54595
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency
Normocytic anemia, Cholelithiasis, Hyperbilirubinemia, Splenomegaly, Cholecystitis, Reticulocytos... OMIM:235700
Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency
Elevated circulating 17-hydroxyprogesterone concentration, Microphallus, Adrenal insufficiency, I... OMIM:201810
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome
Neonatal insulin-dependent diabetes mellitus, Anterior pituitary agenesis, Pancreatic hypoplasia,... ORPHA:2255
Garg-Mishra Progeroid Syndrome
Sparse hair, Microvesicular hepatic steatosis OMIM:620601
Nk-Cell Enteropathy
Hematochezia, Colonic diverticula, Gastroesophageal reflux, Stercoral ulcer, Abnormal gastric muc... ORPHA:263665
Deafness-Small Bowel Diverticulosis-Neuropathy Syndrome
Steatorrhea, Cachexia, Duodenal ulcer ORPHA:3217
Anemia, Congenital Dyserythropoietic, Type Ia
Macrocytic dyserythropoietic anemia, Erythroid hyperplasia, Hyperbilirubinemia, Splenomegaly, Ane... OMIM:224120
Severe Acute Respiratory Syndrome
Acute kidney injury, Diabetes mellitus, Acute infectious pneumonia ORPHA:140896
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy
Fat malabsorption, Jejunoileal ulceration, Small bowel diverticula, Hypoproteinemia OMIM:221400
Polycythemia Vera
Gastrointestinal hemorrhage, Increased hematocrit, Leukocytosis, Splenomegaly, Increased red bloo... OMIM:263300
Dehydrated Hereditary Stomatocytosis
Cholelithiasis, Neonatal hyperbilirubinemia, Increased mean corpuscular volume, Polycythemia, Inc... ORPHA:3202
Dehydrated Hereditary Stomatocytosis 2
Increased mean corpuscular volume, Increased mean corpuscular hemoglobin concentration, Hyperbili... OMIM:616689
Alobar Holoprosencephaly
Bifid uvula, Gastroesophageal reflux, Central hypothyroidism, Failure to thrive, Aspiration pneum... ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly
Bifid uvula, Gastroesophageal reflux, Central hypothyroidism, Failure to thrive, Aspiration pneum... ORPHA:93926
Lobar Holoprosencephaly
Bifid uvula, Gastroesophageal reflux, Central hypothyroidism, Failure to thrive, Aspiration pneum... ORPHA:93924
Semilobar Holoprosencephaly
Bifid uvula, Gastroesophageal reflux, Central hypothyroidism, Failure to thrive, Aspiration pneum... ORPHA:220386
Pulmonary Alveolar Microlithiasis
Calcium nephrolithiasis, Bronchitis, Interlobular septal thickening, Subpleural interstitial thic... ORPHA:60025
Ciliary Dyskinesia, Primary, 43
Recurrent upper respiratory tract infections, Abdominal situs inversus, Chronic sinusitis, Chroni... OMIM:618699
Neuhauser Syndrome
Bifid uvula, Low anterior hairline, Primary hypothyroidism, Hypercholesterolemia, High palate, Dy... OMIM:249310
Tarp Syndrome
Hepatic failure, Meckel diverticulum, Failure to thrive, Horseshoe kidney, Hydronephrosis, High p... OMIM:311900
Cockayne Syndrome
Dry hair, Absence of pubertal development, Reduced subcutaneous adipose tissue, Cryptorchidism, C... ORPHA:191
Geleophysic Dysplasia 3
Hepatomegaly, Pneumonia OMIM:617809
Tay-Sachs Disease
Precocious puberty, Increased serum beta-hexosaminidase, Ventriculomegaly, Aspiration pneumonia, ... ORPHA:845
Adrenal Hyperplasia, Congenital, Due To 17-Alpha-Hydroxylase Deficiency
Adrenogenital syndrome, Adrenal hyperplasia OMIM:202110
Biotinidase Deficiency
Alopecia, Organic aciduria, Hyperammonemia, Splenomegaly, Skin rash, Seborrheic dermatitis, Hepat... OMIM:253260
Primary Triglyceride Deposit Cardiomyovasculopathy
Inflammatory abnormality of the skin, Hyperlipidemia, Splenomegaly, Increased muscle lipid conten... ORPHA:565612
Osteopetrosis, Autosomal Recessive 7
Recurrent pneumonia, Lateral ventricle dilatation, Splenomegaly, Anemia, Hydrocephalus, Hepatomeg... OMIM:612301
Duodenal Ulcer Due To Antral G-Cell Hyperfunction
Hypergastrinemia, Duodenal ulcer, Hyperpepsinogenemia I OMIM:126840
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Cholelithiasis, Hepatitis, Increased mean corpuscular hemoglobin concentration, Increased circula... OMIM:194380
Cockayne Syndrome A
Atypical scarring of skin, Dry hair, Ventriculomegaly, Failure to thrive, Hypogonadism, Loss of f... OMIM:216400
Camurati-Engelmann Disease
Urinary retention, Hypogonadism, Slender build, Leukopenia, Splenomegaly, Abnormal subcutaneous f... ORPHA:1328
Woodhouse-Sakati Syndrome
Decreased serum estradiol, Alopecia, Insulin-resistant diabetes mellitus, Decreased response to g... ORPHA:3464
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Cryptorchidism, High palate, Hypospadias, Motor stereotypy, Self-injurious behavior, Gastroesopha... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Cryptorchidism, High palate, Hypospadias, Motor stereotypy, Self-injurious behavior, Gastroesopha... ORPHA:353277
Chromosome Xq26.3 Duplication Syndrome
Pituitary adenoma, Increased circulating prolactin concentration, Hypopituitarism, Polyphagia, El... OMIM:300942
Cholera
Acute kidney injury, Hypoglycemia, Aspiration pneumonia, Hypocalcemia, Hypokalemia, Hyponatremia,... ORPHA:173
Duodenal Atresia
Duodenal atresia OMIM:223400
Feingold Syndrome Type 1
Nephritis, Horseshoe kidney, Renal insufficiency, Vesicoureteral reflux, Jejunal atresia, Hydrone... ORPHA:391641
Autosomal Recessive Malignant Osteopetrosis
Splenomegaly, Hypocalcemia, Otitis media, Chronic rhinitis, Pulmonary artery stenosis, Anemia, Hy... ORPHA:667
Polycythemia Vera
Gastrointestinal hemorrhage, Acute leukemia, Polycythemia, Portal hypertension, Splenomegaly, Leu... ORPHA:729
Spinocerebellar Ataxia With Axonal Neuropathy Type 2
Hypoalbuminemia, Urinary bladder sphincter dysfunction, Elevated circulating creatine kinase conc... ORPHA:64753
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Hypoalbuminemia, Hypercholesterolemia, Elevated circulating creatine kinase concentration OMIM:208920
Surfactant Metabolism Dysfunction, Pulmonary, 2
Recurrent pneumonia, Intralobular septal thickening, Spontaneous pneumothorax, Intraalveolar phos... OMIM:610913
Congenital Lipomatous Overgrowth, Vascular Malformations, And Epidermal Nevi
Lipoma, Renal hypoplasia, Splenomegaly OMIM:612918
Cockayne Syndrome B
Atypical scarring of skin, Dry hair, Failure to thrive, Abnormal hair morphology, Loss of facial ... OMIM:133540
Simpson-Golabi-Behmel Syndrome
Multicystic kidney dysplasia, Supernumerary nipple, Congenital diaphragmatic hernia, Cryptorchidi... ORPHA:373
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency
Spontaneous hemolytic crises, Cholelithiasis, Pigment gallstones, Splenomegaly, Cholecystitis, No... OMIM:613470
Wagro Syndrome
Decreased testicular size, Obesity, Proteinuria, Polyphagia, Aggressive behavior, Compulsive beha... OMIM:612469
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)
Aciduria, Hepatic failure, Elevated circulating hepatic transaminase concentration, Micronodular ... OMIM:203700
Megalocornea-Intellectual Disability Syndrome
Motor stereotypy, High palate, Hypothyroidism, Hypercholesterolemia ORPHA:2479
Fontaine Progeroid Syndrome
Protruding tongue, Reduced subcutaneous adipose tissue, Cryptorchidism, Low posterior hairline, H... OMIM:612289
Aspartylglucosaminuria
Umbilical hernia, Aspartylglucosaminuria, Inguinal hernia, Splenomegaly, Macroorchidism, Arthriti... ORPHA:93
Agammaglobulinemia 1, Autosomal Recessive
Recurrent pneumonia, Failure to thrive, Recurrent otitis media, Recurrent sinusitis, B lymphocyto... OMIM:601495
Zimmermann-Laband Syndrome 1
Highly arched eyebrow, Gastroesophageal reflux, Long penis, Umbilical hernia, Thick eyebrow, Sple... OMIM:135500
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency
Long penis, Precocious puberty in males, Congenital adrenal hyperplasia, Decreased testicular siz... OMIM:202010
Iniencephaly
Congenital diaphragmatic hernia, Hydrocephalus, Omphalocele, Anal atresia, Arthrogryposis multipl... ORPHA:63259
Gaucher Disease Type 3
Pancytopenia, Splenomegaly, Hematuria, Proteinuria, Anemia, Delayed puberty, Thrombocytopenia, He... ORPHA:77261
Congenital Fiber-Type Disproportion Myopathy
Ankle flexion contracture, Failure to thrive, Recurrent respiratory infections, Aspiration pneumo... ORPHA:2020
Townes-Brocks Syndrome 1
Anal stenosis, Gastroesophageal reflux, Small for gestational age, Multicystic kidney dysplasia, ... OMIM:107480
Gangliocytoma
Pituitary prolactin cell adenoma, Pituitary null cell adenoma, Adrenocorticotropic hormone excess... ORPHA:251937
Hereditary Hemorrhagic Telangiectasia
Gastrointestinal hemorrhage, Cholelithiasis, Hepatic failure, Tongue telangiectasia, Intestinal p... ORPHA:774
Gastrointestinal Ulceration, Recurrent, With Dysfunctional Platelets
Abnormal circulating eicosanoid concentration, Decreased serum thromboxane B2, Decreased circulat... OMIM:618372
Menke-Hennekam Syndrome 2
Recurrent upper respiratory tract infections, Duodenal ulcer OMIM:618333
Johanson-Blizzard Syndrome
Frontal upsweep of hair, Cryptorchidism, Elevated circulating alanine aminotransferase concentrat... OMIM:243800
Blau Syndrome
Posterior uveitis, Nephropathy, Xerostomia, Keratitis, Camptodactyly of finger, Abnormality of th... ORPHA:90340
Hereditary Orotic Aciduria
Aminoaciduria, Oroticaciduria, Abnormality of the ureter, Splenomegaly, Orotic acid crystalluria,... ORPHA:30
Retinitis Pigmentosa
Hypogonadism, Hyperinsulinemia, Obesity, Type II diabetes mellitus, Abnormal testis morphology ORPHA:791
Pulmonary Alveolar Proteinosis, Acquired
Pneumonia, Intraalveolar phospholipid accumulation, Brain abscess, Lung abscess, Recurrent respir... OMIM:610910
Juvenile Polyposis/Hereditary Hemorrhagic Telangiectasia Syndrome
Hematochezia, Gastrointestinal carcinoma, Juvenile gastrointestinal polyposis, Hepatic arterioven... OMIM:175050
Mucopolysaccharidosis Type 2, Severe Form
Recurrent upper respiratory tract infections, Umbilical hernia, Camptodactyly of finger, Heparan ... ORPHA:217085
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion
High palate, Recurrent pneumonia, Sparse lateral eyebrow, Aspiration pneumonia ORPHA:314655
X-Linked Dystonia-Parkinsonism
Protruding tongue, Impaired oropharyngeal swallow response, Aspiration pneumonia ORPHA:53351
Mucopolysaccharidosis Type 2, Attenuated Form
Recurrent upper respiratory tract infections, Umbilical hernia, Camptodactyly of finger, Heparan ... ORPHA:217093
Wolf-Hirschhorn Syndrome
Accessory spleen, Highly arched eyebrow, Malrotation of small bowel, Gastroesophageal reflux, Ven... OMIM:194190
Hyper-Igd Syndrome
Neutrophilia, Lymphadenitis, Hepatosplenomegaly, Leukocytosis, Splenomegaly, Skin rash, Elevated ... OMIM:260920
Bardet-Biedl Syndrome 20
Male hypogonadism, Elevated circulating hepatic transaminase concentration, Bilateral cryptorchid... OMIM:619471
Choreoacanthocytosis
Lateral ventricle dilatation, Acanthocytosis, Protruding tongue, Hair-pulling, Weight loss, Eleva... ORPHA:2388
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Unconjugated hyperbilirubinemia, Leukocytosis, Splenomegaly, Reticulocytosis, Anisocytosis, Heinz... OMIM:300908
Kabuki Syndrome 1
Anoperineal fistula, Lateral ventricle dilatation, Recurrent otitis media, Cryptorchidism, Anal a... OMIM:147920
Combined Oxidative Phosphorylation Deficiency 25
Ventriculomegaly, Reduced circulating growth hormone concentration, Failure to thrive, Aspiration... OMIM:616430
Thrombocytopenia-Absent Radius Syndrome
Meckel diverticulum, Horseshoe kidney, Hepatosplenomegaly, Leukocytosis, Vesicoureteral reflux, E... OMIM:274000
Lissencephaly Due To Lis1 Mutation
Ventriculomegaly, Neonatal hyperbilirubinemia, Aspiration pneumonia ORPHA:95232
Sporadic Creutzfeldt-Jakob Disease
Recurrent aspiration pneumonia ORPHA:204
Overhydrated Hereditary Stomatocytosis
Stomatocytosis, Increased mean corpuscular volume, Hyperbilirubinemia, Splenomegaly, Reticulocyto... OMIM:185000
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 3
Pneumonia OMIM:608033
Sickle Cell Disease
Splenic infarction, Cholelithiasis, Increased red cell sickling tendency, Leukocytosis, Splenomeg... OMIM:603903
Joubert Syndrome 21
Splenomegaly, Chronic sinusitis, Renal cyst, Dysphagia, Pulmonary hypoplasia OMIM:615636
African Trypanosomiasis
Hepatosplenomegaly, Weight loss, Urinary incontinence, Hepatomegaly, Jaundice, Alopecia, Renal in... ORPHA:3385
Lowe Oculocerebrorenal Syndrome
Joint contracture of the hand, Cryptorchidism, Proximal renal tubular acidosis, Motor stereotypy,... OMIM:309000
Spherocytosis, Type 1
Cholelithiasis, Hyperbilirubinemia, Splenomegaly, Reticulocytosis, Spherocytosis, Jaundice, Hemol... OMIM:182900
Myelofibrosis
Hemophagocytosis, Extramedullary hematopoiesis, Splenomegaly, Hepatomegaly, Myeloproliferative di... OMIM:254450
Abetalipoproteinemia
Fat malabsorption, Acanthocytosis, Abetalipoproteinemia OMIM:200100
Nijmegen Breakage Syndrome
Anal stenosis, Recurrent pneumonia, Recurrent otitis media, Recurrent infection of the gastrointe... OMIM:251260
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related
Lateral ventricle dilatation, Disinhibition, Polyphagia, Repetitive compulsive behavior, Agitatio... OMIM:607485
Adult-Onset Autosomal Dominant Leukodystrophy
Urinary retention, Aspiration pneumonia, Flexion contracture, Dysphagia, Urinary urgency ORPHA:99027
Hereditary Sensory And Autonomic Neuropathy Type 4
Chronic kidney disease, Atypical scarring of skin, Septic arthritis, Fasciitis, Osteomyelitis, Co... ORPHA:642
Genitopatellar Syndrome
Malrotation of small bowel, Anal stenosis, Multicystic kidney dysplasia, Anteriorly placed anus, ... OMIM:606170
Mungan Syndrome
Barrett esophagus, Renal hypoplasia, Intestinal pseudo-obstruction, Megaduodenum, Vesicoureteral ... OMIM:611376
Pancreas, Annular
Annular pancreas, High intestinal obstruction, Duodenal stenosis OMIM:167750
Annular Pancreas
Annular pancreas, High intestinal obstruction, Duodenal stenosis ORPHA:675
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Precocious puberty, Decreased circulating iron concentration, High anterior hairline, Gastroesoph... ORPHA:438213
Amoebiasis Due To Free-Living Amoebae
Pneumonia, Increased red blood cell count, Granuloma, Respiratory tract infection, Infectious enc... ORPHA:68
Duodenal Ulcer, Hyperpepsinogenemic I
Duodenal ulcer, Hyperpepsinogenemia I OMIM:126850
Hereditary Elliptocytosis
Cholelithiasis, Neonatal hyperbilirubinemia, Stomatocytosis, Hyperbilirubinemia, Elliptocytosis, ... ORPHA:288
Hyperlipidemia, Familial Combined, 3
Xanthelasma, Increased LDL cholesterol concentration, Hyperlipidemia, Increased VLDL cholesterol ... OMIM:144250
Spherocytosis, Type 4
Hyperbilirubinemia, Splenomegaly, Reticulocytosis, Spherocytosis, Jaundice, Hemolytic anemia OMIM:612653
Spherocytosis, Type 2
Hyperbilirubinemia, Acanthocytosis, Splenomegaly, Reticulocytosis, Spherocytosis, Jaundice, Hemol... OMIM:616649
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome
Highly arched eyebrow, Gastroesophageal reflux, Aspiration pneumonia, Horseshoe kidney, Facial hi... ORPHA:444077
Thalidomide Embryopathy
Insulin resistance, Chronic rhinitis ORPHA:3312
Hepatic Lipase Deficiency
Increased HDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterolemia OMIM:614025
Hypoplasminogenemia
Periodontitis, Abnormality of the ovary, Nephrolithiasis, Decreased level of plasminogen, Hydroce... ORPHA:722
Ataxia-Oculomotor Apraxia 4
Hypoalbuminemia, Obesity, Hypercholesterolemia, Elevated circulating alpha-fetoprotein concentration OMIM:616267
Okamoto Syndrome
Anal stenosis, Gastroesophageal reflux, Exaggerated median tongue furrow, Facial hypertrichosis, ... ORPHA:2729
Corpus Callosum, Agenesis Of, With Impaired Intellectual Development, Ocular Coloboma, And Micrognathia
Bifid uvula, Recurrent pneumonia, Recurrent aspiration pneumonia, Bilateral cryptorchidism, High ... OMIM:300472
Acute Radiation Syndrome
Inflammatory abnormality of the skin, Lymphopenia, Interstitial pneumonitis, Thrombocytopenia, Gr... ORPHA:454831
Mercury Poisoning
Hypokalemia, Acute kidney injury, Interstitial pneumonitis, Anorexia ORPHA:330021
Telangiectasia, Hereditary Hemorrhagic, Type 2
Hematochezia, Brain abscess, Polycythemia, Tongue telangiectasia, Gastrointestinal angiodysplasia... OMIM:600376
Spondyloocular Syndrome
Low posterior hairline, Unilateral cryptorchidism, Duodenal ulcer, Decreased body weight OMIM:605822
Telangiectasia, Hereditary Hemorrhagic, Type 1
Hematochezia, Gastrointestinal hemorrhage, Brain abscess, Polycythemia, Tongue telangiectasia, Pu... OMIM:187300
Tremor-Nystagmus-Duodenal Ulcer Syndrome
Duodenal ulcer ORPHA:3350
Tremor, Nystagmus, And Duodenal Ulcer
Duodenal ulcer OMIM:190310
Neonatal Acute Respiratory Distress Due To Sp-B Deficiency
Intraalveolar phospholipid accumulation, Spontaneous neonatal pneumothorax, Interstitial pneumoni... ORPHA:217563
Abdominal Obesity-Metabolic Syndrome 3
Hyperglycemia, Increased LDL cholesterol concentration, Type II diabetes mellitus, Abdominal obes... OMIM:615812
Familial Adenomatous Polyposis Due To 5Q22.2 Microdeletion
Intestinal bleeding, Duodenal polyposis, Low posterior hairline, Hepatoblastoma, Iron deficiency ... ORPHA:261584
Chand Syndrome
Hydroureter, Atelectasis, Curly hair, Bifid tongue, Cleft palate ORPHA:1401
Ciliary Dyskinesia, Primary, 20
Recurrent pneumonia, Atelectasis, Recurrent otitis media, Recurrent sinusitis, Pulmonary artery s... OMIM:615067
Holoprosencephaly 13, X-Linked
Gastroesophageal reflux, Median cleft palate, Submucous cleft hard palate, Colpocephaly, Duodenal... OMIM:301043
Arboleda-Tham Syndrome
Highly arched eyebrow, Gastroesophageal reflux, Recurrent respiratory infections, Sparse medial e... OMIM:616268
Chromosome 22Q13 Duplication Syndrome
Polyphagia, Attention deficit hyperactivity disorder, Impulsivity OMIM:615538
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal
Decreased testicular size, Nail dystrophy, Hypercholesterolemia, Hypertriglyceridemia, Hypospadias OMIM:610644
Down Syndrome
Duodenal stenosis, Protruding tongue, Acute megakaryocytic leukemia, Aganglionic megacolon, Pulmo... OMIM:190685
Ataxia With Vitamin E Deficiency
Xanthelasma, Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia OMIM:277460
Bickerstaff Brainstem Encephalitis
Pneumonia, Respiratory tract infection, Recurrent gastroenteritis ORPHA:79138
Generalized Juvenile Polyposis/Juvenile Polyposis Coli
Hematochezia, Duodenal polyposis, Multiple gastric polyps, Small intestinal polyposis, Adenomatou... ORPHA:329971
Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction
Gastroesophageal reflux, Aspiration pneumonia, Ineffective esophageal peristalsis, Small intestin... OMIM:619482
Hypercholesterolemia, Familial, 3
Xanthelasma, Hypercholesterolemia, Abnormal LDL cholesterol concentration OMIM:603776
Hypercholesterolemia, Familial, 2
Xanthelasma, Increased LDL cholesterol concentration, Hypercholesterolemia OMIM:144010
Attenuated Familial Adenomatous Polyposis
Thyroid adenoma, Duodenal polyposis, Large intestinal polyposis, Multiple renal cysts, Adenomatou... ORPHA:220460
Homozygous Familial Hypercholesterolemia
Increased LDL cholesterol concentration, Renal artery stenosis, Hyperlipidemia, Hepatic steatosis... ORPHA:391665
Familial Adenomatous Polyposis 4
Thyroid adenoma, Gastric adenocarcinoma, Duodenal polyposis, Ovarian cyst, Renal cyst, Adenomatou... OMIM:617100
Atrial Septal Defect, Coronary Sinus Type
Pneumonia, Anomalous pulmonary venous return ORPHA:99104
Atrial Septal Defect, Ostium Secundum Type
Pneumonia ORPHA:99103
Lafora Disease
Recurrent aspiration pneumonia, Hepatic failure ORPHA:501
Yunis-Varon Syndrome
Sparse eyebrow, Absent nipple, Aspiration pneumonia, Failure to thrive in infancy, Cryptorchidism... OMIM:216340

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Lipa

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 Lipa.

There are 6 publications which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
Metabolic changes and propensity for inflammation, fibrosis, and cancer in livers of mice lacking lysosomal acid lipase. Journal of lipid research (August 2023) Lipatm1c(EUCOMM)Hmgu PMC10482749
Off-target effects of the lysosomal acid lipase inhibitors Lalistat-1 and Lalistat-2 on neutral lipid hydrolases. Molecular metabolism (April 2022) Lipatm1a(EUCOMM)Hmgu PMC9118473
Lysosomal lipoprotein processing in endothelial cells stimulates adipose tissue thermogenic adaptation. Cell metabolism (December 2020) Lipatm1c(EUCOMM)Hmgu 33357458
Lysosomal acid lipase is the major acid retinyl ester hydrolase in cultured human hepatic stellate cells but not essential for retinyl ester degradation. Biochimica et biophysica acta. Molecular and cell biology of lipids (May 2020) Lipatm1a(EUCOMM)Hmgu PMC7279957
Hepatocyte-specific deletion of lysosomal acid lipase leads to cholesteryl ester but not triglyceride or retinyl ester accumulation. The Journal of biological chemistry (April 2019) Lipatm1a(EUCOMM)Hmgu PMC6556574
Hepatocyte-specific lysosomal acid lipase deficiency protects mice from diet-induced obesity but promotes hepatic inflammation. Biochimica et biophysica acta. Molecular and cell biology of lipids (January 2019) Lipatm1a(EUCOMM)Hmgu PMC6372077

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
Lipatm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells
Lipatm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) Mice, ES Cells
Lipatm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells

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