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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 associated to Lipa by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Cholesteryl Ester Storage Disease
Acute hepatic failure, Decreased HDL cholesterol concentration, Adrenal calcification, Bone-marro... OMIM:278000
Cholesteryl Ester Storage Disease
Hepatomegaly, Hypertriglyceridemia, Adrenal calcification, Splenomegaly, Jaundice, Esophageal var... ORPHA:75234
Wolman Disease
Hepatomegaly, Adrenal calcification, Bone-marrow foam cells, Cachexia, Splenomegaly, Esophageal v... ORPHA:75233

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 hepatic transaminase, Hepatocellular carcinoma, Cough, Splenomegaly, Panacinar emphysema... OMIM:613490
Multiple Symmetric Lipomatosis
Multiple lipomas, Insulin resistance, Abnormal adipose tissue morphology, Hepatomegaly ORPHA:2398
Lipodystrophy, Congenital Generalized, Type 3
Reduced subcutaneous adipose tissue, Hepatomegaly, Hypertriglyceridemia, Lipodystrophy, Diabetes ... OMIM:612526
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Villous atrophy, T lymphocytopenia, Hypothyroidism, Alopecia universalis, Hemolytic anemia, Psori... OMIM:606367
Plin1-Related Familial Partial Lipodystrophy
Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Hypertriglycer... ORPHA:280356
Autoinflammation With Infantile Enterocolitis
Pancytopenia, Failure to thrive, Villous atrophy, Skin rash, Elevated circulating C-reactive prot... OMIM:616050
Severe Neurodegenerative Syndrome With Lipodystrophy
Reduced subcutaneous adipose tissue, Hepatomegaly, Hyperactivity, Hypertriglyceridemia, Reduced i... ORPHA:363400
Obesity Due To Prohormone Convertase I Deficiency
Decreased response to growth hormone stimulation test, Increased adipose tissue, Polyphagia, Obes... ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Decreased response to growth hormone stimulation test, Increased adipose tissue, Polyphagia, Obes... ORPHA:71526
Immunodeficiency 104
Hepatomegaly, Pneumonia, Eczema, Splenomegaly, Chronic mucocutaneous candidiasis, Lymphadenopathy... OMIM:608971
Mandibuloacral Dysplasia
Loss of subcutaneous adipose tissue in limbs, Alopecia, Hypertriglyceridemia, Lipoatrophy, Increa... ORPHA:2457
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Nonketotic hypoglycemia, Increased circulating free fatty acid level, Large for gestational age, ... ORPHA:293964
Sarcoidosis, Susceptibility To, 2
Hepatomegaly, Erythema nodosum, Splenomegaly, Mediastinal lymphadenopathy, Pneumothorax, Dyspnea,... OMIM:612387
Lipodystrophy, Congenital Generalized, Type 4
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Lipodystrophy, Elevated circul... OMIM:613327
Familial Partial Lipodystrophy, Köbberling Type
Hepatomegaly, Diabetes mellitus, Lipoatrophy, Insulin resistance, Hyperinsulinemia, Polycystic ov... ORPHA:79084
Immunodeficiency, Common Variable, 8, With Autoimmunity
Atrophic gastritis, Generalized lymphadenopathy, Villous atrophy, Uveitis, Inflammation of the la... OMIM:614700
Congenital Generalized Lipodystrophy
Hepatomegaly, Hypertriglyceridemia, Lipodystrophy, Precocious puberty in females, Diabetes mellit... ORPHA:528
Congenital Disorder Of Glycosylation, Type Ib
Hepatomegaly, Failure to thrive, Villous atrophy, Renal cyst, Proximal tubulopathy, Hepatic fibro... OMIM:602579
Lipodystrophy, Familial Partial, Type 3
Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Decreased HDL ... OMIM:604367
Lipodystrophy, Partial, Acquired, Susceptibility To
Membranoproliferative glomerulonephritis, Proteinuria, Diabetes mellitus, Polycystic ovaries, Hem... OMIM:608709
Acquired Partial Lipodystrophy
Lipoatrophy, Proteinuria, Insulin resistance, Lymphocytosis, Microscopic hematuria, Hepatic steat... ORPHA:79087
Immunodeficiency 31C
Villous atrophy, Protein-losing enteropathy, Cough, Recurrent vulvovaginal candidiasis, Hypothyro... OMIM:614162
Common Variable Immunodeficiency
Elevated hepatic transaminase, Hemolytic anemia, Recurrent respiratory infections, Failure to thr... ORPHA:1572
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Villous atrophy, Alopecia, Eosinophilia, Glomerulonephritis, Autoimmune thrombocytopenia, Eczema,... OMIM:304790
Lipodystrophy, Familial Partial, Type 4
Hypertriglyceridemia, Lipoatrophy, Lipodystrophy, Insulin resistance, Insulin-resistant diabetes ... OMIM:613877
Congenital Disorder Of Glycosylation, Type Ia
Dilated fourth ventricle, Hepatomegaly, Elevated hepatic transaminase, Villous atrophy, Proteinur... OMIM:212065
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Elevated hepatic transaminase, Hepatomegaly, Respiratory distress, Inflammatory abnormality of th... ORPHA:26793
Hypocomplementemic Urticarial Vasculitis
Episcleritis, Hepatomegaly, Renal insufficiency, Proteinuria, Skin rash, Splenomegaly, Dyspnea, U... ORPHA:36412
Lipodystrophy, Familial Partial, Type 6
Diabetes mellitus, Lipodystrophy, Elevated circulating creatine kinase concentration, Hyperlipide... OMIM:615980
Familial Partial Lipodystrophy, Dunnigan Type
Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Hypertriglyceridemia, Lipoatrophy, Li... ORPHA:2348
Pparg-Related Familial Partial Lipodystrophy
Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Hypertriglyceridemia, Lipoatrophy, Di... ORPHA:79083
Trichohepatoenteric Syndrome 2
Hepatomegaly, Villous atrophy, Brittle hair, Small for gestational age, Decreased serum iron, Chr... OMIM:614602
Secondary Short Bowel Syndrome
Abnormal small intestine morphology, Villous atrophy, Aganglionic megacolon, Small intestinal dys... ORPHA:95427
Morbid Obesity And Spermatogenic Failure
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Insulin resistance, Obesity, Incre... OMIM:615703
Whipple Disease
Myositis, Anorexia, Uveitis, Cough, Hypothyroidism, Infectious encephalitis, Hyponatremia, Hepato... ORPHA:3452
Alpha-1-Antitrypsin Deficiency
Hepatomegaly, Jaundice, Hepatitis, Nephrotic syndrome, Emphysema, Hepatic failure ORPHA:60
Alpha-Heavy Chain Disease
Hepatomegaly, Abnormal small intestine morphology, Alopecia, Malabsorption, Splenomegaly, Lymphad... ORPHA:100025
Bronchopulmonary Dysplasia
Respiratory distress, Central apnea, Respiratory failure requiring assisted ventilation, Small fo... ORPHA:70589
Cholesteryl Ester Storage Disease
Acute hepatic failure, Decreased HDL cholesterol concentration, Adrenal calcification, Bone-marro... OMIM:278000
Hyperinsulinism Due To Hnf1A Deficiency
Hepatomegaly, Small for gestational age, Ketotic hypoglycemia, Maternal diabetes, Large for gesta... ORPHA:324575
Birt-Hogg-Dubé Syndrome
Pneumothorax, Multiple lipomas, Pulmonary sequestration, Parathyroid adenoma, Emphysema, Medullar... ORPHA:122
Lipe-Related Familial Partial Lipodystrophy
Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Hypertriglyceridemia, Lipodystrophy, ... ORPHA:435660
Obesity Due To Melanocortin 4 Receptor Deficiency
Hypertriglyceridemia, Increased adipose tissue, Hyperinsulinemia, Obesity, Type II diabetes melli... ORPHA:71529
Diarrhea 7, Protein-Losing Enteropathy Type
Villous atrophy, Hyperlipidemia, Hypoalbuminemia, Protein-losing enteropathy, Hypercholesterolemi... OMIM:615863
Activated Pi3K-Delta Syndrome
Hepatomegaly, Pneumonia, Splenomegaly, Recurrent tonsillitis, Bronchiectasis, Lymphadenopathy, Ar... ORPHA:397596
Nphp3-Related Meckel-Like Syndrome
Multicystic kidney dysplasia, Intestinal malrotation, Abnormality of the pancreas, Abnormal liver... ORPHA:3032
Rajab Interstitial Lung Disease With Brain Calcifications 1
Tachypnea, Gastroesophageal reflux, Hypocalcemia, Hypoalbuminemia, High palate, Cough, Emphysema,... OMIM:613658
Primary Intestinal Lymphangiectasia
Hypoproteinemia, Peritoneal effusion, Increased stool alpha1-antitrypsin concentration, Functiona... ORPHA:90362
Syndromic Diarrhea
Villous atrophy, Brittle hair, Abnormality of the liver, Colitis, Hypoplasia of the thymus, Hepat... ORPHA:84064
Macrocephaly-Intellectual Disability-Autism Syndrome
Intestinal polyposis, Penile freckling, Hurthle cell thyroid adenoma, Multiple lipomas, Thyroid c... ORPHA:210548
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome
Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Elevated hepatic transaminase, Hypert... OMIM:615381
T-Cell Immunodeficiency With Thymic Aplasia
Failure to thrive, Aplasia of the thymus, Recurrent bronchopulmonary infections, Recurrent pneumo... OMIM:242700
Cutis Laxa, Autosomal Recessive, Type Ic
Posterolateral diaphragmatic hernia, Accessory spleen, Inguinal hernia, Adrenal hypoplasia, Morga... OMIM:613177
Refractory Celiac Disease
Normocytic anemia, Elevated hepatic transaminase, Macrocytic anemia, Villous atrophy, Inflammator... ORPHA:398063
Idiopathic Bronchiectasis
Cachexia, Crackles, Respiratory tract infection, Dyspnea, Wheezing, Emphysema, Productive cough, ... ORPHA:60033
Akt2-Related Familial Partial Lipodystrophy
Hepatomegaly, Hypertriglyceridemia, Lipodystrophy, Decreased adiponectin level, Decreased serum l... ORPHA:79085
Isolated Agammaglobulinemia
Recurrent cutaneous abscess formation, Recurrent respiratory infections, Failure to thrive, Sinus... ORPHA:229717
Lipodystrophy, Familial Partial, Type 2
Decreased HDL cholesterol concentration, Adipose tissue loss, Increased intraabdominal fat, Hyper... OMIM:151660
Sarcoidosis
Abnormal nasal mucosa morphology, Increased T cell count, Abnormal lung morphology, Uveitis, Neph... ORPHA:797
Diarrhea 12, With Microvillus Atrophy
Villous atrophy, Microvillus inclusions, Respiratory tract infection, Bronchiectasis, Microvillar... OMIM:619445
Bare Lymphocyte Syndrome, Type Ii
Viral hepatitis, Villous atrophy, Cholangitis, Malabsorption, Recurrent upper respiratory tract i... OMIM:209920
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Hepatomegaly, Large for gestational age, Hyperinsulinemia, Hypoglycemic seizures, Decreased circu... ORPHA:276575
Nocardiosis
Respiratory distress, Liver abscess, Anorexia, Lymphadenitis, Nonproductive cough, Conjunctivitis... ORPHA:31204
Allergic Bronchopulmonary Aspergillosis
Abnormal eosinophil morphology, Asthma, Bronchiectasis, Respiratory insufficiency, Weight loss, C... ORPHA:1164
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Ileal atresia, Hypoplasia of the thymus, Psoriasiform dermatitis, Leukocytosis, Hematochezia, Con... OMIM:243150
Hypertriglyceridemia, Transient Infantile
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Hepatic fibrosis... OMIM:614480
Berry Aneurysm, Cirrhosis, Pulmonary Emphysema, And Cerebral Calcification
Emphysema, Hepatic failure, Cirrhosis, Portal hypertension OMIM:210050
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Hepatomegaly, Maternal diabetes, Large for gestational age, Hyperinsulinemia, Hypoglycemic seizur... ORPHA:276580
Parenteral Nutrition-Associated Cholestasis
Elevated hepatic transaminase, Hepatomegaly, Villous atrophy, Small for gestational age, Portal h... ORPHA:567983
Netherton Syndrome
Recurrent respiratory infections, Sparse scalp hair, Skin rash, Eczema, Sparse eyelashes, Ectopic... ORPHA:634
Cidec-Related Familial Partial Lipodystrophy
Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Hypertriglyceridemia, Lipodystrophy, ... ORPHA:435651
Perlman Syndrome
Hepatomegaly, Inguinal hernia, Hypoplasia of penis, Femoral hernia, High, narrow palate, Cryptorc... ORPHA:2849
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Decreased HDL cholesterol concentration, Premature graying of hair, Increased intraabdominal fat,... ORPHA:280365
Sarcoidosis, Susceptibility To, 1
Generalized lymphadenopathy, Anorexia, Uveitis, Inflammation of the large intestine, Cough, Abnor... OMIM:181000
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Acute hepatic failure, Elevated hepatic transaminase, Abnormal circulating acylcarnitine concentr... ORPHA:71212
Galactokinase Deficiency
Hepatomegaly, Small for gestational age, Hypergonadotropic hypogonadism, Hypoglycemia, Neonatal a... ORPHA:79237
Neutral Lipid Storage Disease With Myopathy
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Diabetes mellitus, Elevated ci... OMIM:610717
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome
Respiratory tract infection, Hypersensitivity pneumonitis, Nonproductive cough, Chronic pulmonary... ORPHA:79127
Osteootohepatoenteric Syndrome
Ileoileal intussusception, Villous atrophy, Proteinuria, Increased intestinal transit time, Micro... OMIM:619377
Acquired Generalized Lipodystrophy
Hepatomegaly, Acute pancreatitis, Hypertriglyceridemia, Proteinuria, Insulin resistance, Insulin-... ORPHA:79086
Autoinflammatory-Pancytopenia Syndrome
Pancytopenia, Membranoproliferative glomerulonephritis, Lipodystrophy, Proteinuria, Intestinal in... OMIM:619858
Lmna-Related Cardiocutaneous Progeria Syndrome
Absent eyebrow, Hypertriglyceridemia, Lipoatrophy, Absent eyelashes, Pulmonary carcinoid tumor, A... ORPHA:363618
Niemann-Pick Disease, Type B
Hepatomegaly, Recurrent respiratory infections, Decreased HDL cholesterol concentration, Hypertri... OMIM:607616
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Villous atrophy, Functional abnormality of the bladder, T lymphocytopenia, Infectious encephaliti... ORPHA:391487
Netherton Syndrome
Recurrent respiratory infections, Villous atrophy, Brittle hair, Recurrent skin infections, Eczem... OMIM:256500
Lymphoproliferative Syndrome, X-Linked, 2
Hepatomegaly, Pancytopenia, Recurrent respiratory infections, Aplastic anemia, Hypertriglyceridem... OMIM:300635
Insulin-Resistance Syndrome Type B
Osteoarthritis, Fasting hyperinsulinemia, Increased body weight, Leukopenia, Glucose intolerance,... ORPHA:2298
Gaucher Disease Type 2
Respiratory distress, Recurrent respiratory infections, Hepatomegaly, Cough, Splenomegaly, Flexio... ORPHA:77260
Immunodeficiency 48
Recurrent respiratory infections, Hepatomegaly, Pneumonia, Absence of CD8-positive T cells, Splen... OMIM:269840
Hyperinsulinism Due To Ucp2 Deficiency
Hepatomegaly, Large for gestational age, Reactive hypoglycemia, Hypoglycemic seizures, Decreased ... ORPHA:276556
Lipodystrophy, Congenital Generalized, Type 1
Reduced subcutaneous adipose tissue, Hepatomegaly, Elevated hepatic transaminase, Acute pancreati... OMIM:608594
Immunodeficiency 85 And Autoimmunity
Recurrent respiratory infections, Villous atrophy, Failure to thrive in infancy, Eczema, Oligoart... OMIM:619510
Autosomal Recessive Cutis Laxa Type 2, Classic Type
Inguinal hernia, Lipodystrophy, Thick hair, Abnormal subcutaneous fat tissue distribution, Coarse... ORPHA:357074
Cutis Laxa-Marfanoid Syndrome
Emphysema, Flexion contracture, Congenital diaphragmatic hernia ORPHA:171719
Glycogen Storage Disease Vi
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Failure to thrive in infancy, ... OMIM:232700
Congenital Tufting Enteropathy
Villous atrophy, Abnormal small intestinal mucosa morphology, Elevated fecal osmolality, Malabsor... ORPHA:92050
Ddost-Cdg
Elevated hepatic transaminase, Lipodystrophy, Nephrotic range proteinuria, Gastroesophageal reflu... ORPHA:300536
Pearson Marrow-Pancreas Syndrome
Sideroblastic anemia, Villous atrophy, Anorexia, Reticulocytopenia, 3-Methylglutaric aciduria, Re... OMIM:557000
Cholestasis, Progressive Familial Intrahepatic, 10
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Conjugated hyperbili... OMIM:619868
Immunodeficiency 87 And Autoimmunity
Atrophic gastritis, Villous atrophy, Elevated circulating C-reactive protein concentration, Hepat... OMIM:619573
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Hypertriglyceridemia, Splenomegaly, Increased circulating ferritin concentration, Recurrent upper... OMIM:613101
Porphyria Cutanea Tarda
Abnormal circulating porphyrin concentration, Elevated hepatic iron concentration, Hepatic steato... ORPHA:101330
Lipodystrophy, Congenital Generalized, Type 2
Hepatic steatosis, Hepatomegaly, Umbilical hernia, Hirsutism, Elevated hepatic transaminase, Acut... OMIM:269700
Lipodystrophy, Familial Partial, Type 1
Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Acute pancreatitis, Hypertriglyceride... OMIM:608600
Rajab Interstitial Lung Disease With Brain Calcifications 2
Elevated hepatic transaminase, Hypertriglyceridemia, Microcytic anemia, Hypothyroidism, Abnormal ... OMIM:619013
Graft Versus Host Disease
Fasciitis, Myositis, Gastrointestinal inflammation, Acute hepatitis, Dupuytren contracture, Macul... ORPHA:39812
Immunodeficiency 82 With Systemic Inflammation
Villous atrophy, Decreased proportion of naive T cells, Bronchitis, Anorexia, Elevated circulatin... OMIM:619381
Bloom Syndrome
Bronchitis, Adipose tissue loss, Uveitis, Gastroesophageal reflux, Otitis media, Stomach cancer, ... ORPHA:125
Diarrhea 5, With Tufting Enteropathy, Congenital
Villous atrophy, Small for gestational age, Arthritis, Crypt hyperplasia, Failure to thrive OMIM:613217
Mandibuloacral Dysplasia With Type A Lipodystrophy
Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Hepatomegaly, ... OMIM:248370
Lipodystrophy, Familial Partial, Type 5
Hepatomegaly, Hypertriglyceridemia, Lipodystrophy, Decreased adiponectin level, Decreased serum l... OMIM:615238
Cutis Laxa, Neonatal, With Marfanoid Phenotype
Emphysema, Congenital diaphragmatic hernia OMIM:614100
Cholesteryl Ester Storage Disease
Hepatomegaly, Hypertriglyceridemia, Adrenal calcification, Splenomegaly, Jaundice, Esophageal var... ORPHA:75234
Immunodeficiency 27A
Increased inflammatory response, Abnormal bronchus physiology, Pneumonia, Anorexia, Splenomegaly,... OMIM:209950
Mantle Cell Lymphoma
Abnormality of the gastrointestinal tract, Anorexia, Splenomegaly, Weight loss, Lymphadenopathy ORPHA:52416
Alstrom Syndrome
Decreased HDL cholesterol concentration, Chronic active hepatitis, Decreased response to growth h... OMIM:203800
Immunodeficiency 51
Recurrent respiratory infections, Recurrent skin infections, Pneumonia, Eczema, Pustule, Chronic ... OMIM:613953
Hypophosphatasia
Failure to thrive in infancy, Hypercalcemia, Respiratory insufficiency, Emphysema, Anemia ORPHA:436
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Hyperalaninemia, Hepatomegaly, Increased urine succinate level, Hypoglycemia, Elevated circulatin... OMIM:619048
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease
Increased urinary cortisol level, Alopecia, Dorsocervical fat pad, Paradoxical increased cortisol... ORPHA:189427
Trichohepatoenteric Syndrome 1
Villous atrophy, Brittle hair, Hepatic fibrosis, Hypoalbuminemia, Sparse hair, Bifid uvula, Hepat... OMIM:222470
Idiopathic Achalasia
Bronchitis, Cough, Wheezing, Weight loss, Gastroesophageal reflux, Dysphagia, Decreased prealbumi... ORPHA:930
Mpi-Cdg
Gastrointestinal hemorrhage, Hepatomegaly, Portal hypertension, Hepatic fibrosis, Decreased liver... ORPHA:79319
Lymphangioleiomyomatosis
Gastrointestinal hemorrhage, Recurrent respiratory infections, Abnormal urinary color, Atelectasi... ORPHA:538
Bile Acid Synthesis Defect, Congenital, 1
Elevated hepatic transaminase, Giant cell hepatitis, Hepatomegaly, Failure to thrive, Conjugated ... OMIM:607765
Short Chain Acyl-Coa Dehydrogenase Deficiency
Respiratory distress, Ketotic hypoglycemia, Elevated circulating acylcarnitine concentration, Eth... ORPHA:26792
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7
Portal hypertension, Thrombocytopenia, Cryptorchidism, Premature graying of hair, Pulmonary fibro... OMIM:620365
Homozygous 11P15-P14 Deletion Syndrome
Hypoglycemia, Hyperinsulinemia, Generalized aminoaciduria, Renal tubular dysfunction, Abnormal in... OMIM:606528
Combined Oxidative Phosphorylation Deficiency 52
Renal insufficiency, Hypoglycemia, Elevated circulating aspartate aminotransferase concentration,... OMIM:619386
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency
Atrophic gastritis, Pure red cell aplasia, Inflammation of the large intestine, Hepatomegaly, Pso... ORPHA:436159
Cholestasis-Lymphedema Syndrome
Gastrointestinal hemorrhage, Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Abnormali... ORPHA:1414
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Elevated hepatic transaminase, Aggressive behavior, Hyperlipidemia, Hyperinsulinemia, Obesity, Hy... ORPHA:329249
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Elevated circulating creatine kinase concentration, Increased sarcoplasmic glycogen, Increased bo... ORPHA:264580
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Respiratory insufficiency due to muscle weakness, Flexion contracture, Hepatosplenomegaly, Respir... ORPHA:2590
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Hepatomegaly, Hypersplenism, Splenomegaly, Anemia, Hypocholesterolemia, Thrombocytopenia OMIM:610539
Alg9-Cdg
Omphalocele, Hepatomegaly, Villous atrophy, Lipodystrophy, Ureteral hypoplasia, Asthma, Abnormal ... ORPHA:79328
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Respiratory distress, Myositis, Abnormal blood ion concentration, Iron deficiency anemia, Tubuloi... ORPHA:37042
Donohue Syndrome
Precocious puberty, Adipose tissue loss, Long penis, Hyperinsulinemia, Cholestasis, Ovarian cyst,... OMIM:246200
Charcot-Marie-Tooth Disease, Axonal, Type 2Ee
Elevated hepatic transaminase, Hepatic steatosis, Mildly elevated creatine kinase OMIM:618400
H Syndrome
Microcytic anemia, Hernia, Micropenis, Alopecia, Psoriasiform dermatitis, Recurrent pharyngitis, ... ORPHA:168569
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant
Recurrent respiratory infections, Recurrent sinopulmonary infections, Splenomegaly, Bronchiectasi... OMIM:615513
Emphysema, Hereditary Pulmonary
Emphysema, Chronic pulmonary obstruction, Chronic bronchitis OMIM:130700
Congenital Disorder Of Glycosylation, Type Id
Failure to thrive, Villous atrophy, Flexion contracture, High palate, Arthrogryposis multiplex co... OMIM:601110
Pfapa Syndrome
Hepatomegaly, Malabsorption, Splenomegaly, Recurrent pharyngitis, Weight loss, Lymphadenopathy, A... ORPHA:42642
Hyperinsulinemic Hypoglycemia, Familial, 1
Hyperinsulinemic hypoglycemia, Pancreatic islet-cell hyperplasia, Hypoglycemic seizures, Large fo... OMIM:256450
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Hepatomegaly, Inguinal hernia, Thyroid lymphangiectasia, Splenomegaly, Pancreatic lymphangiectasi... OMIM:235255
Hyperinsulinemic Hypoglycemia, Familial, 2
Hypoglycemia, Large for gestational age, Nesidioblastosis, Pancreatic islet-cell hyperplasia, Hyp... OMIM:601820
Dietary Iron Overload Disease
Hepatomegaly, Viral hepatitis, Diabetes mellitus, Hepatocellular carcinoma, Increased circulating... ORPHA:139507
Sandhoff Disease
Recurrent respiratory infections, Hepatomegaly, Splenomegaly, Abnormal glycosphingolipid metaboli... ORPHA:796
Proteasome-Associated Autoinflammatory Syndrome 5
Hepatomegaly, Hypertriglyceridemia, Skin rash, Failure to thrive in infancy, Splenomegaly OMIM:619175
Cog4-Cdg
Elevated hepatic transaminase, Fatal liver failure in infancy, Failure to thrive in infancy, Thic... ORPHA:263501
Lipodystrophy, Familial Partial, Type 7
Lack of facial subcutaneous fat, Glucose intolerance, Sparse hair, Decreased adipose tissue aroun... OMIM:606721
Obesity And Hypopigmentation
Hepatic steatosis, Hyperinsulinemia, Obesity, Red hair, Polyphagia OMIM:620195
Combined Oxidative Phosphorylation Deficiency 34
Hepatomegaly, Pancytopenia, Failure to thrive, Hypergonadotropic hypogonadism, Hypoglycemia, Elev... OMIM:617872
Hepatoportal Sclerosis
Portal vein thrombosis, Leukopenia, Hypoalbuminemia, Portal hypertension, Intrahepatic portal vei... ORPHA:64743
Hemochromatosis, Type 4
Hepatomegaly, Diabetes mellitus, Impaired glucose tolerance, Increased circulating ferritin conce... OMIM:606069
Hyperinsulinemic Hypoglycemia, Familial, 7
Hypoglycemia, Hyperinsulinemia, Hypoglycemic seizures, Pancreatic islet-cell hyperplasia, Hyperin... OMIM:610021
Peroxisomal Acyl-Coa Oxidase Deficiency
Elevated hepatic transaminase, Hepatomegaly, Very long chain fatty acid accumulation, Dysphagia, ... OMIM:264470
Pigmented Nodular Adrenocortical Disease, Primary, 4
Alopecia, Diabetes mellitus, Dorsocervical fat pad, Adrenal hyperplasia, Acne, Increased body wei... OMIM:615830
Congenital Tracheomalacia
Apnea, Cardiomegaly, Tracheobronchomalacia, Gastroesophageal reflux, Cough, Emphysema, Neonatal r... ORPHA:95430
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Elevated hepatic transaminase, Hepatomegaly, Elevated urinary 3-hydroxybutyric acid, Dicarboxylic... ORPHA:42
Encephalopathy Due To Prosaposin Deficiency
Splenomegaly, Recurrent respiratory infections, Respiratory insufficiency, Hepatomegaly ORPHA:139406
Mandibuloacral Dysplasia With Type B Lipodystrophy
Loss of subcutaneous adipose tissue in limbs, Alopecia, Decreased adipose tissue around neck, Bri... OMIM:608612
Alg6-Cdg
Puberty and gonadal disorders, Jaundice, Decreased LDL cholesterol concentration, Increased circu... ORPHA:79320
Zollinger-Ellison Syndrome
Hyperparathyroidism, Pituitary corticotropic cell adenoma, Multiple lipomas, Zollinger-Ellison sy... ORPHA:913
Obesity Due To Congenital Leptin Deficiency
Hypertriglyceridemia, Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant d... ORPHA:66628
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Elevated hepatic transaminase, Acute myeloid leukemia, Pancytopenia, Hypertriglyceridemia, Elevat... ORPHA:158057
Cerebrooculofacioskeletal Syndrome 1
Failure to thrive, Small for gestational age, Cryptorchidism, Insulin resistance, Flexion contrac... OMIM:214150
Granulomatous Disease, Chronic, X-Linked
Hepatomegaly, Recurrent bacterial skin infections, Liver abscess, Osteomyelitis, Cough, Splenomeg... OMIM:306400
Chylomicron Retention Disease
Accumulation of lipid droplets in small-bowel enterocytes, Decreased LDL cholesterol concentratio... OMIM:246700
Fanconi Renotubular Syndrome 5
Proteinuria, Stage 5 chronic kidney disease, Hypophosphatemia, Decreased DLCO, Aminoaciduria, Pul... OMIM:618913
Immunodeficiency 89 And Autoimmunity
Pulmonary bulla, Elevated circulating C-reactive protein concentration, Pleural thickening, Asthm... OMIM:619632
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2
Microvesicular hepatic steatosis, High palate, Hepatic steatosis, Accessory spleen, Hepatomegaly,... OMIM:619418
Gastrointestinal Defects And Immunodeficiency Syndrome 2
Interstitial emphysema, Bronchiectasis, Knee flexion contracture, Inflammation of the large intes... OMIM:619708
Obesity Due To Leptin Receptor Gene Deficiency
Hypertriglyceridemia, Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant d... ORPHA:179494
Citrullinemia Type Ii
Decreased HDL cholesterol concentration, Acute hyperammonemia, Hepatic fibrosis, Hypoalbuminemia,... ORPHA:247585
Insulinoma
Nonketotic hypoglycemia, Reactive hypoglycemia, Abnormality of the pancreatic islet cells, Fastin... ORPHA:97279
Congenital Disorder Of Glycosylation, Type Iio
Elevated hepatic transaminase, Hepatomegaly, Decreased circulating ceruloplasmin concentration, E... OMIM:616828
Immunodeficiency 40
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Rectal fistula, Resp... OMIM:616433
Congenital Disorder Of Glycosylation, Type Iip
Elevated hepatic transaminase, Decreased circulating ceruloplasmin concentration, Increased LDL c... OMIM:616829
Bare Lymphocyte Syndrome, Type I
Nasal polyposis, Bronchiectasis, Bronchiolitis, Emphysema, Chronic sinusitis, Chronic otitis medi... OMIM:604571
Insulin Autoimmune Syndrome
Nonketotic hypoglycemia, Arthralgia/arthritis, Reactive hypoglycemia, Insulin-resistant diabetes ... ORPHA:411593
Primary Ciliary Dyskinesia
Asplenia, Chronic otitis media, Neonatal respiratory distress, Respiratory tract infection, Atele... ORPHA:244
Autoimmune Disease, Multisystem, Infantile-Onset, 1
Autoimmune hemolytic anemia, Eczema, Autoimmune thrombocytopenia, Celiac disease, Desquamative in... OMIM:615952
Fabry Disease
Renal insufficiency, Proteinuria, Anorexia, Malabsorption, Dyspnea, Hyperlipidemia, Chronic pulmo... ORPHA:324
Congenital Bile Acid Synthesis Defect Type 2
Elevated hepatic transaminase, Giant cell hepatitis, Hepatomegaly, Extramedullary hematopoiesis, ... ORPHA:79303
Mucopolysaccharidosis-Plus Syndrome
Respiratory distress, Synophrys, Flexion contracture, Low anterior hairline, Leukopenia, Coarse h... OMIM:617303
Cushing Syndrome Due To Ectopic Acth Secretion
Malignant gastrointestinal tract tumors, Adrenal hyperplasia, Neoplasm of the stomach, Pancreatob... ORPHA:99889
Diarrhea 2, With Microvillus Atrophy, With Or Without Cholestasis
Villous atrophy, Abnormal intestine morphology OMIM:251850
Loeys-Dietz Syndrome 4
Inguinal hernia, Broad uvula, Eosinophilic infiltration of the esophagus, High, narrow palate, Pn... OMIM:614816
Autoimmune Lymphoproliferative Syndrome, Type Iii
Increased proportion autoreactive unresponsive CD21-/low B cells, Generalized lymphadenopathy, El... OMIM:615559
Congenital Hyperinsulinism Due To Hnf4A Deficiency
Elevated hepatic transaminase, Hepatomegaly, Proteinuria, Large for gestational age, Abnormal cir... ORPHA:263455
Multiple Endocrine Neoplasia Type 4
Hyperparathyroidism, Pituitary corticotropic cell adenoma, Fasting hyperinsulinemia, Zollinger-El... ORPHA:276152
De Barsy Syndrome
Recurrent sinopulmonary infections, Inguinal hernia, Lipodystrophy, Cryptorchidism, High palate, ... ORPHA:2962
Congenital Disorder Of Glycosylation, Type Ih
Hepatomegaly, Thrombocytopenia, Cryptorchidism, Elevated circulating creatinine concentration, Ch... OMIM:608104
Combined Oxidative Phosphorylation Deficiency 16
Microvesicular hepatic steatosis, Elevated circulating alanine aminotransferase concentration, El... OMIM:615395
Felty Syndrome
Sinusitis, Neutropenia, Chronic otitis media, Abnormal lymphocyte morphology, Hepatomegaly, Recur... ORPHA:47612
Proprotein Convertase 1/3 Deficiency
Decreased circulating cortisol level, Villous atrophy, Hypogonadotropic hypogonadism, Malabsorpti... OMIM:600955
Progressive Familial Intrahepatic Cholestasis
Hepatomegaly, Malabsorption, Splenomegaly, Jaundice, Cholestasis, Hypocalcemia, Failure to thrive ORPHA:172
Medullary Thyroid Carcinoma
Primary hyperparathyroidism, Elevated circulating calcitonin concentration, Weight loss, Neoplasm... ORPHA:1332
Immunodeficiency 32B
Hepatomegaly, Recurrent respiratory infections, Neutrophilia, Sinusitis, Eosinophilia, Pneumonia,... OMIM:226990
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Hepatomegaly, Inguinal hernia, Splenomegaly, Pancreatic lymphangiectasis, Cryptorchidism, Pulmona... ORPHA:1655
Diarrhea 9
Villous atrophy, Failure to thrive OMIM:618168
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency
Hepatomegaly, Recurrent respiratory infections, Glomerulonephritis, Decreased proportion of margi... OMIM:619375
Hyperinsulinism Due To Insr Deficiency
Hypoglycemia, Insulin resistance, Fasting hyperinsulinemia, Abnormal circulating C-peptide concen... ORPHA:263458
Cholestasis-Lymphedema Syndrome
Elevated hepatic transaminase, Hepatomegaly, Malabsorption, Conjugated hyperbilirubinemia, Spleno... OMIM:214900
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome
Primary gonadal insufficiency, Insulin-resistant diabetes mellitus, Hypertriglyceridemia, Hepatic... ORPHA:436182
Whim Syndrome
Abnormal small intestine morphology, Sinusitis, Severe periodontitis, Pneumonia, Respiratory trac... ORPHA:51636
Autosomal Agammaglobulinemia
Recurrent respiratory infections, Failure to thrive, Sinusitis, Osteomyelitis, Skin rash, Recurre... ORPHA:33110
Bronchogenic Cyst
Abnormal peritoneum morphology, Pulmonary cyst, Pneumonia, Abnormal pleura morphology, Abnormal s... ORPHA:2357
Diabetes Mellitus, Ketosis-Prone
Beta-cell dysfunction, Insulin resistance, Diabetes mellitus OMIM:612227
Lactose Intolerance, Adult Type
Lactose intolerance, Decreased small intestinal mucosa lactase level OMIM:223100
Immunodeficiency, Common Variable, 1
Hepatomegaly, Pneumonia, Splenomegaly, Recurrent pneumonia, Neutropenia in presence of anti-neutr... OMIM:607594
Congenital Disorder Of Glycosylation, Type Iic
Neutrophilia, Pneumonia, Widow's peak, Periodontitis, Recurrent otitis media, Compulsive behavior... OMIM:266265
Alg12-Cdg
Recurrent hypoglycemia, Hypoalbuminemia, Gastroesophageal reflux, Hypocholesterolemia, Micropenis... ORPHA:79324
Werner Syndrome
Sparse scalp hair, Lipoatrophy, Lipodystrophy, Abnormal hair whorl, Pulmonary artery stenosis, In... ORPHA:902
Immunodeficiency 97 With Autoinflammation
Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, Colitis, Elevated proportion of C... OMIM:619802
Microcephaly, Short Stature, And Impaired Glucose Metabolism 1
Diabetes mellitus, Dorsocervical fat pad, Low anterior hairline, Delayed thelarche, Hyperinsuline... OMIM:616033
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Hemolytic anemia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Respiratory tract inf... ORPHA:444463
Pleural Mesothelioma
Respiratory distress, Hepatomegaly, Abnormal pleura morphology, Cough, Dyspnea, Abnormal lung mor... ORPHA:50251
Dpm1-Cdg
Elevated hepatic transaminase, Hepatomegaly, Elevated circulating creatine kinase concentration, ... ORPHA:79322
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Ureteral duplication, Apnea, Elevated circulating creatine kinase concentration, Cardiomegaly, In... OMIM:608836
Pediatric-Onset Graves Disease
Elevated hepatic transaminase, Hepatomegaly, Hyperactivity, Episcleritis, Puberty and gonadal dis... ORPHA:525731
Oculoskeletodental Syndrome
Hepatomegaly, Small for gestational age, Hypercalcemia, Splenomegaly, Cryptorchidism, Elbow flexi... OMIM:618440
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Elevated hepatic transaminase, Hepatomegaly, Failure to thrive, Proteinuria, Hypoglycemia, Hyperl... ORPHA:369
Autosomal Recessive Cutis Laxa Type 1
Inguinal hernia, Small bowel diverticula, Pyloric stenosis, Pneumothorax, Recurrent pneumonia, Re... ORPHA:90349
Intellectual Developmental Disorder, Autosomal Recessive 41
Hepatomegaly, Splenomegaly, Recurrent pneumonia, Self-injurious behavior, High palate, Abnormal r... OMIM:615637
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Reactive hypoglycemia, Hyperinsulinemia, Increased body weight, Agitation, Pancreatic islet-cell ... ORPHA:276608
Wilson Disease
Acute hepatic failure, Decreased circulating ceruloplasmin concentration, Osteoarthritis, Aminoac... OMIM:277900
Congenital Bile Acid Synthesis Defect Type 1
Elevated hepatic transaminase, Hepatomegaly, Gastrointestinal hemorrhage, Malabsorption, Splenome... ORPHA:79301
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type
Hypopigmentation of hair, Respiratory failure, Gastroesophageal reflux, Decreased liver function,... ORPHA:70472
X-Linked Agammaglobulinemia
Sinusitis, Abnormal lung morphology, Glossoptosis, Conjunctivitis, Hypocalcemia, Neutropenia, Chr... ORPHA:47
Isolated Congenital Hypoglossia/Aglossia
Respiratory distress, Dyspnea, Upper airway obstruction, Cleft palate, Weight loss, Aspiration pn... ORPHA:141152
Congenital Glucokinase-Related Hyperinsulinism
Fasting hyperinsulinemia, Abnormal circulating C-peptide concentration, Recurrent hypoglycemia, T... ORPHA:79299
Familial Multiple Lipomatosis
Functional intestinal obstruction, Lipodystrophy, Increased adipose tissue, Hyperlipidemia, Insul... ORPHA:199276
Leprechaunism
Rectal prolapse, Nephrocalcinosis, Increased circulating renin level, Recurrent infantile hypogly... ORPHA:508
Bronchial Neuroendocrine Tumor
Hepatomegaly, Pneumonia, Chronic noninfectious lymphadenopathy, Anorexia, Elevated circulating gr... ORPHA:97287
Chronic Diarrhea Due To Glucoamylase Deficiency
Decreased small intestinal mucosa lactase level, Abnormal small intestinal mucosa morphology, Mal... ORPHA:103907
Meier-Gorlin Syndrome 6
Recurrent respiratory infections, Small for gestational age, Decreased response to growth hormone... OMIM:616835
Combined Immunodeficiency Due To Zap70 Deficiency
Lymphadenitis, Colitis, Lymphocytosis, Autoimmune thrombocytopenia, Abnormal lymph node morpholog... ORPHA:911
Alpha-Mannosidosis
Recurrent respiratory infections, Inguinal hernia, Hepatomegaly, Splenomegaly, Narrow palate, Mac... ORPHA:61
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne
Pancytopenia, Acne, Elevated circulating C-reactive protein concentration, Microcytic anemia, Elb... OMIM:604416
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Nonketotic hypoglycemia, Hepatomegaly, Necrotizing enterocolitis, Dicarboxylic aciduria, Elevated... OMIM:201475
Progeria-Short Stature-Pigmented Nevi Syndrome
Elevated hepatic transaminase, Neoplasm of the pancreas, Decreased serum testosterone concentrati... ORPHA:2959
Mitochondrial Neurogastrointestinal Encephalomyopathy
Elevated hepatic transaminase, Abnormality of the gastrointestinal tract, Small intestinal dysmot... ORPHA:298
Hemophagocytic Lymphohistiocytosis, Familial, 4
Hepatomegaly, Hypertriglyceridemia, Skin rash, Splenomegaly, Thrombocytopenia, Jaundice, Increase... OMIM:603552
Severe Combined Immunodeficiency, X-Linked
Impaired lymphocyte transformation with phytohemagglutinin, Hepatomegaly, Skin rash, Pneumonia, R... OMIM:300400
Fusariosis
Fasciitis, Sinusitis, Myositis, Abnormality of the spleen, Abnormality of the liver, Neutropenia,... ORPHA:228119
Zygomycosis
Fasciitis, Sinusitis, Acute infectious pneumonia, Unusual gastrointestinal infection, Colitis, Ne... ORPHA:73263
Liver Disease, Severe Congenital
Chronic gastritis, Dry hair, Cardiomegaly, Biliary hyperplasia, Leukopenia, Aminoaciduria, Protei... OMIM:619991
Leptin Deficiency Or Dysfunction
Decreased serum leptin, Recurrent upper respiratory tract infections, Recurrent pneumonia, Obesit... OMIM:614962
Majeed Syndrome
Hepatomegaly, Inflammatory abnormality of the skin, Osteomyelitis, Proteinuria, Acne, Cachexia, C... ORPHA:77297
Caspase 8 Deficiency
Recurrent sinopulmonary infections, Failure to thrive, Pneumonia, Eczema, Splenomegaly, Asthma, L... OMIM:607271
Citrullinemia, Type Ii, Adult-Onset
Hypertriglyceridemia, Portal inflammation, Elevated circulating alanine aminotransferase concentr... OMIM:603471
Immunodeficiency 76
Splenomegaly, Recurrent pneumonia, Lymphadenopathy, T lymphocytopenia, Colitis, B lymphocytopenia... OMIM:619164
Fatty Liver Disease, Susceptibility To, 1
Hepatic steatosis OMIM:613282
Fatty Liver Disease, Susceptibility To, 2
Hepatic steatosis OMIM:613387
19P13.12 Microdeletion Syndrome
Hyperactivity, Hypospadias, Precocious puberty, Hypothyroidism, Hyperlipidemia, Synophrys, Crypto... ORPHA:254346
Wilson Disease
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Aggressive behavior, Splenome... ORPHA:905
Hereditary Motor And Sensory Neuropathy, Okinawa Type
Respiratory failure requiring assisted ventilation, Elevated circulating creatine kinase concentr... ORPHA:90117
Hyperinsulinemic Hypoglycemia, Familial, 6
Abnormality of the pancreatic islet cells, Hypoglycemic seizures, Asymptomatic hyperammonemia, Hy... OMIM:606762
Aspergillosis
Sinusitis, Cough, Neutropenia, Infectious encephalitis, Chronic pulmonary obstruction, Bronchiect... ORPHA:1163
Epidermodysplasia Verruciformis, Susceptibility To, 4
Stomatitis, Emphysema, Increased proportion of exhausted T cells OMIM:618307
Temple Syndrome
Decreased testicular size, Hypertriglyceridemia, Small for gestational age, Maturity-onset diabet... OMIM:616222
Immunodeficiency 52
Decreased proportion of CD4-positive T cells, Failure to thrive, Autoimmune thrombocytopenia, Spl... OMIM:617514
Congenital Lobar Emphysema
Respiratory distress, Emphysema ORPHA:1928
Muscular Hypertonia, Lethal
Respiratory distress, Umbilical hernia, Pneumonia OMIM:254120
Analbuminemia
Lipodystrophy, Elevated circulating transferrin concentration, Increased LDL cholesterol concentr... OMIM:616000
Melioidosis
Brain abscess, Foot osteomyelitis, Liver abscess, Lung abscess, Pneumonia, Respiratory tract infe... ORPHA:31202
Eosinophilic Gastroenteritis
Abnormality of the gastrointestinal tract, Eosinophilia, Elevated circulating C-reactive protein ... ORPHA:2070
Peroxisome Biogenesis Disorder 3B
Hepatomegaly, Very long chain fatty acid accumulation, Elevated circulating phytanic acid concent... OMIM:266510
Meckel Diverticulum
Meckel diverticulum OMIM:155140
Blood Group, Cromer System
Protein-losing enteropathy OMIM:613793
Immunodeficiency 75 With Lymphoproliferation
Recurrent respiratory infections, Follicular hyperplasia, Bronchiectasis, Hepatosplenomegaly, Dec... OMIM:619126
Diarrhea 13
Elevated hepatic transaminase, Recurrent hypoglycemia, Hypoalbuminemia, Failure to thrive, Hepati... OMIM:620357
Short Stature Due To Primary Acid-Labile Subunit Deficiency
Insulin resistance, Truncal obesity, Decreased serum insulin-like growth factor 1, Delayed puberty ORPHA:140941
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Generalized lymphadenopathy, Lymphadenitis, Leukopenia, T lymphocytopenia, Neutropenia, Chronic p... OMIM:618986
Esophageal Atresia
Respiratory distress, Bronchitis, Maternal diabetes, Gastrointestinal dysmotility, Anorectal anom... ORPHA:1199
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea
Crackles, Gastroesophageal reflux, Cough, Hilar lymph node enlargement, Hepatomegaly, Mediastinal... OMIM:620233
Proteasome-Associated Autoinflammatory Syndrome 3
Elevated hepatic transaminase, Hepatomegaly, Failure to thrive, Hypertriglyceridemia, Lipodystrop... OMIM:617591
Legionnaires Disease
Anorexia, Abnormal lung morphology, Cough, Infectious encephalitis, Hyponatremia, Recurrent phary... ORPHA:549
Chylomicron Retention Disease
Elevated hepatic transaminase, Hypertriglyceridemia, Acanthocytosis, Steatorrhea, Fat malabsorpti... ORPHA:71
Microlissencephaly
Pneumonia, Ventriculomegaly ORPHA:1083
Hyperinsulinemic Hypoglycemia, Familial, 8
Hypoglycemia, Elevated circulating thyroid-stimulating hormone concentration, Hyperinsulinemia, H... OMIM:620211
Omenn Syndrome
Hepatomegaly, Failure to thrive, Alopecia, Eosinophilia, Pneumonia, Splenomegaly, Leukocytosis, T... ORPHA:39041
Rabson-Mendenhall Syndrome
Fasting hyperinsulinemia, Low anterior hairline, Nephrocalcinosis, Premature graying of hair, Hig... ORPHA:769
Congenital Disorder Of Glycosylation, Type Iir
Elevated hepatic transaminase, Hepatomegaly, Decreased proportion of CD4-positive T cells, Hyposp... OMIM:301045
Immunodeficiency 91 And Hyperinflammation
Acute hepatic failure, Elevated circulating C-reactive protein concentration, Hepatomegaly, Neutr... OMIM:619644
Retinitis Pigmentosa
Hypoplasia of penis, Hyperinsulinemia, Obesity, Atypical scarring of skin, Hypogonadism, Type II ... ORPHA:791
Immunodeficiency 109 With Lymphoproliferation
Pancytopenia, Generalized lymphadenopathy, Hypertriglyceridemia, Splenomegaly, Bronchiectasis, Ab... OMIM:620282
Wolman Disease
Hepatomegaly, Adrenal calcification, Bone-marrow foam cells, Cachexia, Splenomegaly, Esophageal v... ORPHA:75233
Mody
Large for gestational age, Transient neonatal diabetes mellitus, Renal cyst, Glucose intolerance,... ORPHA:552
Cholestasis, Progressive Familial Intrahepatic, 1
Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Epistaxis, Conjugated hyperbilirub... OMIM:211600
Rigid Spine Syndrome
Hip contracture, Pneumonia, Abnormality on pulmonary function testing, Elbow flexion contracture,... ORPHA:97244
Agammaglobulinemia 4, Autosomal Recessive
Recurrent pneumonia, Abnormal T cell morphology, Protein-losing enteropathy, Neutropenia, Recurre... OMIM:613502
Surfactant Metabolism Dysfunction, Pulmonary, 3
Respiratory distress, Crazy paving pattern, Apnea, Nodular pattern on pulmonary HRCT, Tachypnea, ... OMIM:610921
Lysosomal Acid Lipase Deficiency
Adrenal calcification, Bone-marrow foam cells, Renal salt wasting, Microvesicular hepatic steatos... ORPHA:275761
Shigellosis
Anorexia, Intestinal perforation, Abnormal blood ion concentration, Uveitis, Paralytic ileus, Con... ORPHA:810
Plectin-Related Limb-Girdle Muscular Dystrophy R17
Elevated circulating creatine kinase concentration, Atelectasis, Achilles tendon contracture, Dec... ORPHA:254361
Atypical Werner Syndrome
Abnormal hair whorl, Fasting hyperinsulinemia, Premature graying of hair, Hyperglycemia, Abnormal... ORPHA:79474
Congenital Disorder Of Glycosylation, Type Im
Inflammatory abnormality of the skin, Alopecia, Sparse eyelashes, Increased circulating free fatt... OMIM:610768
Congenital Disorder Of Glycosylation, Type Iij
Elevated hepatic transaminase, Hepatomegaly, Recurrent respiratory infections, Failure to thrive,... OMIM:613489
Inflammatory Skin And Bowel Disease, Neonatal, 1
Villous atrophy, Duodenitis, Pustule, Erythroderma, Failure to thrive, Blepharitis OMIM:614328
Diarrhea 11, Malabsorptive, Congenital
Villous atrophy OMIM:618662
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Hypoglycemic seizures, Nephrocalcinosis, Inflammation of the large intestine, Periodontitis, Hepa... ORPHA:79259
Coproporphyria, Hereditary
Hepatomegaly, Increased fecal coproporphyrin III:coproporphyrin I ratio, Increased fecal copropor... OMIM:121300
Mitochondrial Complex Iv Deficiency, Nuclear Type 19
Protein-losing enteropathy, Recurrent respiratory infections, Hyperglycinemia, Lacticaciduria OMIM:619063
Interstitial Lung And Liver Disease
Aminoaciduria, Hepatic fibrosis, Cough, Hypothyroidism, Hepatic steatosis, Hepatomegaly, Elevated... OMIM:615486
Schaaf-Yang Syndrome
Failure to thrive in infancy, Impulsivity, Cryptorchidism, Flexion contracture, Obesity, Gastroes... OMIM:615547
Neonatal Marfan Syndrome
Neonatal respiratory distress, Small for gestational age, Lipoatrophy, High, narrow palate, Flexi... ORPHA:284979
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Decreased proportion of CD4-positive T cells, Recurrent respiratory infections, Autoimmune thromb... OMIM:300853
Cronkhite-Canada Syndrome
Intestinal polyposis, Hepatomegaly, Alopecia, Anorexia, Cachexia, Malabsorption, Splenomegaly, Fu... ORPHA:2930
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency
Hyponatremia, Decreased circulating cortisol level, Adrenal hyperplasia, Hypoglycemia, Pneumonia,... ORPHA:90790
Matthew-Wood Syndrome
Congenital diaphragmatic hernia, Cryptorchidism, Abnormal lung morphology, Renal hypoplasia, Apla... ORPHA:2470
Carnitine Deficiency, Systemic Primary
Respiratory distress, Hepatomegaly, Dicarboxylic aciduria, Elevated circulating aspartate aminotr... OMIM:212140
Lymphoid Interstitial Pneumonia
Crackles, Abnormality of connective tissue, Cough, Decreased DLCO, Multiple pulmonary cysts, Hepa... ORPHA:79128
Hyperinsulinemic Hypoglycemia, Familial, 5
Elevated circulating insulin:C-peptide ratio, Fasting hyperinsulinemia, Hypoglycemic seizures, Hy... OMIM:609968
Mitchell-Riley Syndrome
Absent gallbladder, Meckel diverticulum, Diabetes mellitus, Jejunal atresia, Intestinal malrotati... OMIM:615710
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia
Hepatomegaly, Recurrent respiratory infections, Recurrent skin infections, Splenomegaly, Cleft pa... OMIM:620210
Congenital Disorder Of Glycosylation, Type Ik
Hepatomegaly, Splenomegaly, Flexion contracture, Hypogonadism, Joint contracture OMIM:608540
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Elevated circulating creatine kinase concentration, Cardiomegaly, High, narrow palate, Red-brown ... ORPHA:228308
Aicardi-Goutieres Syndrome 9
Hepatic fibrosis, Hypoalbuminemia, Micropenis, Hepatic steatosis, Self-mutilation, Hypothyroidism... OMIM:619487
Autosomal Recessive Polycystic Kidney Disease
Cholangitis, Biliary hyperplasia, Abnormal intrahepatic bile duct morphology, Fat malabsorption, ... ORPHA:731
Lysinuric Protein Intolerance
Decreased HDL cholesterol concentration, Decreased response to growth hormone stimulation test, L... ORPHA:470
Hemochromatosis, Type 1
Elevated hepatic transaminase, Hepatomegaly, Alopecia, Diabetes mellitus, Hypogonadotropic hypogo... OMIM:235200
Cholestasis, Progressive Familial Intrahepatic, 2
Hepatomegaly, Conjugated hyperbilirubinemia, Splenomegaly, Intrahepatic cholestasis, Intermittent... OMIM:601847
Familial Chylomicronemia Syndrome
Acute pancreatitis, Hypertriglyceridemia, Diabetes mellitus, Pulmonary embolism, Perianal abscess... ORPHA:444490
Pseudomyxoma Peritonei
Abnormal peritoneum morphology, Intestinal obstruction, Respiratory insufficiency, Weight loss, L... ORPHA:26790
Type 2 Diabetes Mellitus
Type II diabetes mellitus, Insulin resistance, Increased waist to hip ratio OMIM:125853
Infantile Sialic Acid Storage Disease
Hepatomegaly, Fair hair, Cardiomegaly, Conjugated hyperbilirubinemia, Splenomegaly, Hydrocephalus... OMIM:269920
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Hypergonadotropic hypogonadism, Cryptorchidism, Hyperinsulinemia, Obesity, Polycystic ovaries, Ty... ORPHA:3085
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis
Hepatomegaly, Skin rash, Allergic rhinitis, Anemia of inadequate production, Splenomegaly, Jaundi... OMIM:612714
Idiopathic Chronic Eosinophilic Pneumonia
Abnormality of the gastrointestinal tract, Elevated circulating C-reactive protein concentration,... ORPHA:2902
Acrocephalopolydactylous Dysplasia
Omphalocele, Hepatomegaly, Hypoplastic colon, Pancreatic fibrosis, Hypoplasia of the small intest... OMIM:200995
Autoimmune Hepatitis
Elevated hepatic transaminase, Viral hepatitis, Acute hepatitis, Gastrointestinal hemorrhage, Glo... ORPHA:2137
D-Glyceric Aciduria
Hyperglycinemia, Nonketotic hyperglycinemia, Hyperglycinuria, Increased circulating free fatty ac... ORPHA:941
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair
Decreased circulating cortisol level, Decreased response to growth hormone stimulation test, Adre... OMIM:609734
T-Cell Immunodeficiency With Thymic Aplasia
Decreased proportion of naive T cells, Aplasia of the thymus, Pneumonia, Sinusitis, Malabsorption... ORPHA:83471
Mucopolysaccharidosis, Type Iiic
Hepatomegaly, Hyperactivity, Heparan sulfate excretion in urine, Splenomegaly, Synophrys, Recurre... OMIM:252930
Scedosporiosis
Pericarditis, Diabetes mellitus, Sinusitis, Pneumonia, Bronchitis, Arthralgia/arthritis, Osteomye... ORPHA:449280
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Chronic oral candidiasis, Eosinophilia, Pneumonia, Anorexia, Recurrent pneumonia, Hepatitis, Eryt... ORPHA:169160
Meier-Gorlin Syndrome 1
Respiratory distress, Failure to thrive, Small for gestational age, Cryptorchidism, Flexion contr... OMIM:224690
Aredyld Syndrome
Hepatomegaly, Lipoatrophy, Abnormal dental enamel morphology, Cachexia, Splenomegaly, Abnormality... ORPHA:1133
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency
Chronic gastritis, Liver abscess, Cholangitis, Bronchitis, Cholecystitis, Psoriasiform dermatitis... ORPHA:183675
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Elevated circulating C-reactive protein concentration, Leukopenia, Hashimoto thyroiditis, Hepatom... OMIM:615688
Mirage Syndrome
Adrenal hypoplasia, Leukopenia, Gastroesophageal reflux, Microphallus, Aspiration pneumonia, Acha... OMIM:617053
Cerebral Dysgenesis, Neuropathy, Ichthyosis, And Palmoplantar Keratoderma Syndrome
Failure to thrive, Aspiration pneumonia OMIM:609528
Adrenomyodystrophy
Primary adrenal insufficiency, Megacystis, Abnormal intestine morphology, Failure to thrive, Hepa... ORPHA:977
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial
Impaired gluconeogenesis, Hepatic failure, Hepatic steatosis, Hypoglycemia OMIM:261650
Magel2-Related Prader-Willi-Like Syndrome
Flexion contracture, Xerostomia, Increased body weight, Gastroesophageal reflux, Compulsive behav... ORPHA:398069
Growth Delay-Intellectual Disability-Hepatopathy Syndrome
Elevated hepatic transaminase, Diabetes mellitus, Cholestasis, Hepatosplenomegaly, Decreased seru... ORPHA:541423
Autosomal Dominant Severe Congenital Neutropenia
Acute myeloid leukemia, Lymphopenia, Recurrent sinopulmonary infections, Aplastic anemia, Eosinop... ORPHA:486
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency
Hepatic steatosis, Inguinal hernia, Brittle hair, Methioninuria, Hyperhomocystinemia, High palate... OMIM:236200
Proteus Syndrome
Lipoma, Multiple lipomas, Lymphangioma, Splenomegaly OMIM:176920
Cyclic Neutropenia
Sinusitis, Recurrent skin infections, Cyclic neutropenia, Perianal abscess, Respiratory tract inf... ORPHA:2686
Brucellosis
Liver abscess, Bronchitis, Anorexia, Elevated circulating C-reactive protein concentration, Knee ... ORPHA:1304
Griscelli Syndrome
Hepatomegaly, Abnormal eyebrow morphology, Abnormality of neutrophils, Abnormal eyelash morpholog... ORPHA:381
Secondary Intestinal Lymphangiectasia
Intestinal obstruction, Intestinal lymphedema, Increased stool alpha1-antitrypsin concentration, ... ORPHA:90363
Temple Syndrome
Small for gestational age, Decreased response to growth hormone stimulation test, Precocious pube... ORPHA:254516
Alström Syndrome
Respiratory distress, Urinary incontinence, Decreased response to growth hormone stimulation test... ORPHA:64
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Hepatomegaly, Failure to thrive, Generalized lymphadenopathy, Aplasia of the thymus, Eosinophilia... OMIM:602450
Tetraamelia Syndrome 1
Congenital diaphragmatic hernia, Asplenia, Hydrocephalus, Peripheral pulmonary vessel aplasia, Cl... OMIM:273395
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)
Acute hepatic failure, Respiratory distress, Microvesicular hepatic steatosis, Osteomyelitis lead... OMIM:256810
Glycogen Storage Disease Ixa1
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Hypoglycemia, Splenomegaly, Hy... OMIM:306000
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Hepatomegaly, Autoimmune hemolytic anemia, Atrophic gastritis, Psoriasiform dermatitis, Eczema, A... OMIM:616100
Shwachman-Diamond Syndrome
Normocytic anemia, Transient neutropenia, Aplastic anemia, Decreased response to growth hormone s... ORPHA:811
Mitochondrial Complex I Deficiency, Nuclear Type 33
Small for gestational age, Hypospadias, Hypoglycemia, Apnea, Bronchiectasis, Dysphagia, Hyperammo... OMIM:618253
Triokinase And Fmn Cyclase Deficiency Syndrome
Hepatomegaly, Failure to thrive in infancy, Microcytic anemia, Elevated circulating alanine amino... OMIM:618805
Immunodeficiency 54
Hepatomegaly, Recurrent respiratory infections, Failure to thrive, Splenomegaly, Respiratory insu... OMIM:609981
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Elevated hepatic transaminase, Hepatomegaly, Failure to thrive, Hypoglycemia, Portal hypertension... OMIM:251880
Focal Dermal Hypoplasia
Omphalocele, Acute hepatic failure, Inguinal hernia, Multicystic kidney dysplasia, Alopecia, Abno... ORPHA:2092
Fanconi Anemia, Complementation Group W
Decreased response to growth hormone stimulation test, Renal hypoplasia, Polysplenia, Ventriculom... OMIM:617784
Pearson Syndrome
Decreased response to growth hormone stimulation test, Renal cyst, Abnormality of the liver, Hypo... ORPHA:699
Trimethylaminuria
Trimethylaminuria, Splenomegaly, Recurrent pneumonia, Neutropenia, Anemia OMIM:602079
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Decreased response to growth hormone stimulation test, Gastrointestinal dysmotility, Gonadotropin... ORPHA:293987
Congenital Disorder Of Glycosylation, Type Iil
Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Elevated circulating creatine kinase c... OMIM:614576
Hyperinsulinemic Hypoglycemia, Familial, 3
Diabetes mellitus, Hypoglycemic seizures, Hyperinsulinemic hypoglycemia OMIM:602485
Carnitine Palmitoyltransferase I Deficiency
Elevated hepatic transaminase, Hepatomegaly, Dicarboxylic aciduria, Elevated circulating aspartat... OMIM:255120
Immunodeficiency, Common Variable, 2
Hepatomegaly, Follicular hyperplasia, Splenomegaly, Recurrent pneumonia, Bronchiectasis, Lymphade... OMIM:240500
Insulinomatosis And Diabetes Mellitus
Impaired glucose tolerance, Insulinoma, Multiple pancreatic beta-cell adenomas, Type II diabetes ... OMIM:147630
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
T lymphocytopenia, Cough, Recurrent aspiration pneumonia, Hepatomegaly, Portal hypertension, Hepa... ORPHA:79124
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Hemolytic anemia, Acute pancreatitis, Abscess, Anal fissure, Eczema, Perianal abscess, Splenomega... OMIM:618935
Axial Mesodermal Dysplasia Spectrum
Omphalocele, Congenital diaphragmatic hernia, Abnormality of the spleen, Hydrocephalus, Anorectal... ORPHA:1834
Granulomatous Disease, Chronic, Autosomal Recessive, 1
Hepatomegaly, Recurrent bacterial skin infections, Liver abscess, Osteomyelitis, Discoid lupus ra... OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2
Hepatomegaly, Recurrent bacterial skin infections, Liver abscess, Osteomyelitis, Discoid lupus ra... OMIM:233710
Recurrent Respiratory Papillomatosis
Respiratory distress, Atelectasis, Abnormal lung morphology, Recurrent upper respiratory tract in... ORPHA:60032
Digeorge Syndrome
High, narrow palate, Parathyroid hypoplasia, Abnormal thymus morphology, Hypoplasia of the thymus... OMIM:188400
Huntington Disease
Oral-pharyngeal dysphagia, Aggressive behavior, Weight loss, Abnormal circulating cholesterol con... ORPHA:399
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Decreased HDL cholesterol concentration, Hypoalbuminemia, Hepatic steatosis, Hyperthreoninemia, H... ORPHA:247598
Aicardi-Goutieres Syndrome 7
Atrophic gastritis, Generalized lymphadenopathy, Hypothyroidism, Hepatic steatosis, Hemolytic ane... OMIM:615846
Cutis Laxa, Autosomal Recessive, Type Ia
Recurrent respiratory infections, Inguinal hernia, Congenital diaphragmatic hernia, Bladder diver... OMIM:219100
Autosomal Dominant Cutis Laxa
Inguinal hernia, Unilateral renal agenesis, Bronchiectasis, Pyelonephritis, Bladder diverticulum,... ORPHA:90348
Systemic Sclerosis
Elevated circulating creatine kinase concentration, Flexion contracture, Intestinal bleeding, Gas... ORPHA:90291
Ciliary Dyskinesia, Primary, 25
Recurrent respiratory infections, Neonatal respiratory distress, Productive cough, Recurrent pneu... OMIM:615482
Congenital Disorder Of Glycosylation, Type It
Elevated hepatic transaminase, Hepatomegaly, Decreased serum insulin-like growth factor 1, Hypogl... OMIM:614921
Galactosemia Iii
Hepatomegaly, Splenomegaly, Jaundice, Aminoaciduria, Galactosuria, Hypergalactosemia, Failure to ... OMIM:230350
Granulomatous Disease, Chronic, Autosomal Recessive, 4
Hepatomegaly, Recurrent bacterial skin infections, Liver abscess, Osteomyelitis, Discoid lupus ra... OMIM:233690
Hurler-Scheie Syndrome
Hepatomegaly, Abnormality of the tonsils, Splenomegaly, Rhinitis, Hernia, Generalized hirsutism ORPHA:93476
Wrinkly Skin Syndrome
Recurrent sinopulmonary infections, Inguinal hernia, Lipodystrophy, Cryptorchidism, High palate, ... ORPHA:2834
Mucopolysaccharidosis, Type Ii
Hepatomegaly, Inguinal hernia, Intestinal pseudo-obstruction, Heparan sulfate excretion in urine,... OMIM:309900
Farber Disease
Elevated hepatic transaminase, Respiratory distress, Failure to thrive, Intrahepatic cholestasis ... ORPHA:333
Neonatal Alloimmune Neutropenia
Pneumonia, Jaundice, Neutropenia in presence of anti-neutropil antibodies, Maternal diabetes ORPHA:464370
Body Mass Index Quantitative Trait Locus 19
Hypertriglyceridemia, Insulin resistance, Hyperlipidemia, Hyperinsulinemia, Obesity, Increased se... OMIM:617885
Fryns Syndrome
Ureteral duplication, Ectopic pancreatic tissue, Large for gestational age, Renal cyst, Dandy-Wal... OMIM:229850
C1Q Deficiency 2
Chilblains, Elevated circulating C-reactive protein concentration, Discoid lupus rash, Atelectasi... OMIM:620321
Cholestasis, Progressive Familial Intrahepatic, 12
Hepatomegaly, Proteinuria, Elevated circulating aspartate aminotransferase concentration, Conjuga... OMIM:620010
Short-Rib Thoracic Dysplasia 12
Omphalocele, Hepatomegaly, Inguinal hernia, Intestinal malrotation, Hamartoma of tongue, Splenome... OMIM:269860
Multiple Endocrine Neoplasia Type 1
Anorexia, Pituitary corticotropic cell adenoma, Pituitary gonadotropic cell adenoma, Pancreatic e... ORPHA:652
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1
Hepatomegaly, Diabetes mellitus, Pancreatic fibrosis, Hypothyroidism, Achilles tendon contracture... OMIM:616263
Tularemia
Respiratory distress, Brain abscess, Skin rash, Pneumonia, Erythema nodosum, Abnormal nasopharyng... ORPHA:3392
Grfoma
Anorexia, Neoplasm of the thymus, Zollinger-Ellison syndrome, Pheochromocytoma, Hepatomegaly, Int... ORPHA:97261
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Leukopenia, Hypoplasia of the thymus, High palate, Otitis media, Neutropenia, Hepatomegaly, Peria... OMIM:612541
Bacterial Toxic-Shock Syndrome
Respiratory distress, Fasciitis, Sinusitis, Myositis, Elevated circulating creatine kinase concen... ORPHA:36234
Maternal Uniparental Disomy Of Chromosome 6
Inguinal hernia, Ventriculomegaly, Eczema, Cleft palate, Hydrocele testis, Increased serum testos... ORPHA:96181
Abetalipoproteinemia
Decreased HDL cholesterol concentration, Cardiomegaly, Hepatic fibrosis, Hypoalbuminemia, Hypocho... ORPHA:14
3-Methylglutaconic Aciduria Type 7
Elevated hepatic transaminase, Renal insufficiency, Hypothyroidism, Pneumothorax, Renal cyst, Nep... ORPHA:445038
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant
Pneumonia, Recurrent upper respiratory tract infections, Atopic dermatitis, T lymphocytopenia, Na... OMIM:618806
Staphylococcal Necrotizing Pneumonia
Respiratory distress, Neutrophilia, Diabetes mellitus, Pneumonia, Elevated circulating C-reactive... ORPHA:36238
Omenn Syndrome
Hepatomegaly, Alopecia, Severe B lymphocytopenia, Eosinophilia, Pneumonia, Splenomegaly, Thromboc... OMIM:603554
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Fluctuating splenomegaly, Neutropenia i... OMIM:619220
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Hepatomegaly, Autoimmune hemolytic anemia, Recurrent respiratory infections, Failure to thrive, L... OMIM:618495
Chronic Granulomatous Disease
Hepatomegaly, Recurrent respiratory infections, Liver abscess, Sinusitis, Eczema, Abnormality of ... ORPHA:379
Transient Neonatal Diabetes Mellitus
Small for gestational age, Maternal diabetes, Maturity-onset diabetes of the young, Transient neo... ORPHA:99886
Multiple Acyl-Coa Dehydrogenase Deficiency
Respiratory distress, Hepatomegaly, Hypoglycemia, Glutaric aciduria, Jaundice, Generalized aminoa... OMIM:231680
Cholestasis, Progressive Familial Intrahepatic, 8
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Portal hypertension,... OMIM:619662
Sialidosis Type 2
Hepatomegaly, Inguinal hernia, Splenomegaly, Nephropathy, Flexion contracture, Dyspnea, Umbilical... ORPHA:87876
Hyperinsulinemic Hypoglycemia, Familial, 4
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia OMIM:609975
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Elevated hepatic transaminase, Hepatomegaly, Failure to thrive, Respiratory distress, Portal hype... ORPHA:367
Short Syndrome
Inguinal hernia, Small for gestational age, Lipoatrophy, Lipodystrophy, Insulin resistance, Absen... OMIM:269880
Immunodeficiency 64 With Lymphoproliferation
Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of CD4-pos... OMIM:618534
Lymphoproliferative Syndrome, X-Linked, 1
Hepatomegaly, Pancytopenia, Recurrent respiratory infections, Aplastic anemia, Elevated circulati... OMIM:308240
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Elevated hepatic transaminase, Hepatomegaly, Recurrent respiratory infections, Methylmalonic acid... ORPHA:17
Combined Oxidative Phosphorylation Deficiency 9
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Dyspnea, Elevated ci... OMIM:614582
Acute Interstitial Pneumonia
Peribronchovascular interstitial thickening, Nodular pattern on pulmonary HRCT, Elevated circulat... ORPHA:79126
Autoimmune Disease, Multisystem, With Facial Dysmorphism
Hepatomegaly, Pancytopenia, Recurrent respiratory infections, Failure to thrive in infancy, Porta... OMIM:613385
Roifman Syndrome
Hip contracture, Hepatomegaly, Eosinophilia, Eczema, Splenomegaly, Recurrent pneumonia, Prominent... OMIM:616651
Babesiosis
Hemolytic anemia, Hepatomegaly, Renal insufficiency, Anorexia, Splenomegaly, Jaundice, Recurrent ... ORPHA:108
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Anisocytosis, Cardiomegaly, Microvesicular hepatic steatosis, Tachypnea, Hepatocellular necrosis,... OMIM:618278
Fryns Syndrome
Omphalocele, Multicystic kidney dysplasia, Hypospadias, Aganglionic megacolon, Congenital diaphra... ORPHA:2059
Isolated Biliary Atresia
Conjugated hyperbilirubinemia, Fat malabsorption, Hypothyroidism, Hepatomegaly, Acholic stools, D... ORPHA:30391
Congenital Disorder Of Glycosylation, Type Ie
Elevated hepatic transaminase, Hepatomegaly, Respiratory distress, Elevated circulating creatine ... OMIM:608799
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency
Ketonuria, Apnea, Elevated circulating growth hormone concentration, Large for gestational age, N... ORPHA:79644
Seckel Syndrome 10
Acute pancreatitis, Hypertriglyceridemia, Diabetes mellitus, Elevated hemoglobin A1c, Elevated ci... OMIM:617253
Ras-Associated Autoimmune Leukoproliferative Disorder
Hepatomegaly, Pancytopenia, Hemolytic anemia, Recurrent respiratory infections, Follicular hyperp... OMIM:614470
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Elevated circulating creatine ... ORPHA:79240
Q Fever
Respiratory distress, Anorexia, Abnormality of the liver, Cholecystitis, Cough, Infectious enceph... ORPHA:781
Short Stature, Microcephaly, And Endocrine Dysfunction
Inguinal hernia, Ventriculomegaly, Abnormal circulating lipid concentration, Diabetes mellitus, U... OMIM:616541
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form
Elevated hepatic transaminase, Hepatomegaly, Elevated circulating creatine kinase concentration, ... ORPHA:228305
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Asplenia, Abnormal lung lobation, Neonatal respiratory distress, Hypospadias, Esophageal atresia,... OMIM:265380
Smith-Lemli-Opitz Syndrome
Gastrointestinal dysmotility, Abnormal lung lobation, Renal cyst, Hypoalbuminemia, Gastroesophage... OMIM:270400
Sim1-Related Prader-Willi-Like Syndrome
Xerostomia, Premature adrenarche, Micropenis, Hypothalamic luteinizing hormone-releasing hormone ... ORPHA:398079
Bardet-Biedl Syndrome 19
Renal insufficiency, Obesity, Renal hypoplasia, Hypogonadism, Hepatic steatosis, Hydronephrosis OMIM:615996
Combined Immunodeficiency Due To Dock8 Deficiency
Recurrent respiratory infections, Recurrent bacterial skin infections, Pneumonia, Asthma, Atopic ... ORPHA:217390
Alg1-Cdg
Abnormality of the gastrointestinal tract, Renal insufficiency, Nephrotic syndrome, Respiratory f... ORPHA:79327
Bardet-Biedl Syndrome 1
Decreased testicular size, Diabetes mellitus, Aganglionic megacolon, Nephrogenic diabetes insipid... OMIM:209900
Pulmonary Fibrosis-Hepatic Hyperplasia-Bone Marrow Hypoplasia Syndrome
Elevated hepatic transaminase, Portal hypertension, Nodular regenerative hyperplasia of liver, Ab... ORPHA:210136
Adult-Onset Still Disease
Elevated hepatic transaminase, Hepatomegaly, Abnormal circulating lipid concentration, Neutrophil... ORPHA:829
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic
Hepatomegaly, Ketonuria, Hypoglycemia, Apnea, Elevated circulating alanine aminotransferase conce... OMIM:261680
Hardikar Syndrome
Intrahepatic bile duct cysts, Cholangitis, Hepatic fibrosis, Vesicoureteral reflux, Bladder exstr... OMIM:301068
Vipoma
Anorexia, Benign gastrointestinal tract tumors, Hepatomegaly, Follicular thyroid carcinoma, Inter... ORPHA:97282
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Decreased circulating cortisol level, Adrenal hyperplasia, High, narrow palate, Decreased circula... ORPHA:95699
Neonatal Severe Primary Hyperparathyroidism
Hepatomegaly, Abnormality of the thyroid gland, Splenomegaly, Abnormal circulating calcium-phosph... ORPHA:417
Leishmaniasis
Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Abnormal macrophage morphology, Anorex... ORPHA:507
Mosaic Trisomy 9
Hypoplasia of penis, Camptodactyly of finger, Intestinal malrotation, Asplenia, Cryptorchidism, A... ORPHA:99776
3-Methylglutaconic Aciduria, Type Viib
Respiratory distress, Neonatal hypoglycemia, Flexion contracture, Recurrent pneumonia, Leukopenia... OMIM:616271
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome
Omphalocele, Intestinal malrotation, Aqueductal stenosis, Splenomegaly, Pulmonary hypoplasia ORPHA:3035
Potocki-Lupski Syndrome
Hyperactivity, Small for gestational age, Oral-pharyngeal dysphagia, Hypothyroidism, High palate,... OMIM:610883
Immunodeficiency 102
Hepatomegaly, Recurrent skin infections, Autoimmune thrombocytopenia, Nodular regenerative hyperp... OMIM:301082
Cushing Disease
Increased urinary cortisol level, Sparse scalp hair, Adrenal hyperplasia, Dorsocervical fat pad, ... ORPHA:96253
Nodular Lymphocyte Predominant Hodgkin Lymphoma
Hepatomegaly, Anorexia, Splenomegaly, Weight loss, Lymphadenopathy ORPHA:86893
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Hepatomegaly, Failure to thrive, Decreased proportion of naive T cells, Chronic oral candidiasis,... ORPHA:276
Combined Immunodeficiency Due To Crac Channel Dysfunction
Hemolytic anemia, Hepatomegaly, Pneumonia, Splenomegaly, Lymphadenopathy, Hypocalcification of de... ORPHA:169090
Coronary Artery Disease, Autosomal Dominant, 1
Hypercholesterolemia, Diabetes mellitus, Obesity OMIM:608320
Hypoglycemia, Leucine-Induced
Hypoglycemia, Hyperinsulinemic hypoglycemia OMIM:240800
Viss Syndrome
Chronic gastritis, High, narrow palate, High palate, Gastroesophageal reflux, Broad uvula, Emphys... OMIM:619472
Distal Deletion 12Q
Ectopic kidney, High, narrow palate, Biliary atresia, Vesicoureteral reflux, Micropenis, Self-mut... ORPHA:96149
Immunodeficiency 7
Hepatomegaly, Autoimmune hemolytic anemia, Recurrent respiratory infections, Chronic oral candidi... OMIM:615387
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion
Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasia, Premature a... ORPHA:98793
Heterotaxy, Visceral, 1, X-Linked
Omphalocele, Hepatomegaly, Bilateral trilobed lung, Respiratory distress, Cardiomegaly, Asplenia,... OMIM:306955
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Small for gestational age, Hypoglycemia, Precocious puberty, Insulin-resistant diabetes mellitus,... OMIM:262190
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2
Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasia, Premature a... ORPHA:177904
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Ectopic kidney, Rectal prolapse, Hypoalbuminemia, Protein-losing enteropathy, Vesicoureteral refl... OMIM:235510
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome
Elevated hepatic transaminase, Hepatomegaly, Recurrent respiratory infections, Limb joint contrac... ORPHA:404454
Leptin Receptor Deficiency
Diabetes mellitus, Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulati... OMIM:614963
Muckle-Wells Syndrome
Episcleritis, Hepatomegaly, Skin rash, Camptodactyly of finger, Splenomegaly, Uveitis, Nephrotic ... ORPHA:575
Prolidase Deficiency
Hepatomegaly, Chronic lung disease, Elevated circulating aspartate aminotransferase concentration... OMIM:170100
Meier-Gorlin Syndrome 4
Cryptorchidism, Emphysema, Failure to thrive, Breast hypoplasia OMIM:613804
Burkitt Lymphoma
Gastrointestinal hemorrhage, Intestinal obstruction, Abnormality of the spleen, Abnormality of th... ORPHA:543
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1
Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasia, Premature a... ORPHA:177901
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase
Splenomegaly, Recurrent pancreatitis, Hyperlipoproteinemia OMIM:118830
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type
Aplasia/Hypoplasia of the lungs, Splenomegaly, Hepatomegaly ORPHA:2204
Juvenile Polyposis Syndrome
Small intestinal polyposis, Juvenile gastrointestinal polyposis, Hamartomatous polyposis, Multipl... ORPHA:2929
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15
Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasia, Premature a... ORPHA:98754
Immunodeficiency 11B With Atopic Dermatitis
Pneumonia, Eosinophilia, Asthma, Bronchiectasis, Ulcerative colitis, Atopic dermatitis, Colonic e... OMIM:617638
D-Bifunctional Protein Deficiency
Elevated hepatic transaminase, Hepatomegaly, Very long chain fatty acid accumulation, Fetal ascit... OMIM:261515
Mucopolysaccharidosis Type 3
Adenoiditis, Cardiomegaly, Synophrys, Flexion contracture, Coarse hair, Aspiration pneumonia, Oti... ORPHA:581
Infantile Liver Failure Syndrome 1
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Macrocytic anemia, Failure to... OMIM:615438
Patent Ductus Venosus
Hypergalactosemia, Hepatic steatosis, Decreased liver function, Hyperammonemia OMIM:601466
Thoraco-Abdominal Enteric Duplication
Hepatomegaly, Camptodactyly of finger, Intestinal malrotation, Respiratory insufficiency, Duodena... ORPHA:1759
Mixed Connective Tissue Disease
Myositis, Xerostomia, Leukopenia, Gastroesophageal reflux, Nephropathy, Hemolytic anemia, Hepatom... ORPHA:809
Gm1 Gangliosidosis
Recurrent respiratory infections, Inguinal hernia, Camptodactyly of finger, Splenomegaly, Hepatos... ORPHA:354
Familial Hemophagocytic Lymphohistiocytosis
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Maculopapular exanthema, Skin ... ORPHA:540
Microsporidiosis
Myositis, Sinusitis, Cholangitis, Bronchitis, Anorexia, Abnormality of the spleen, Lymphadenitis,... ORPHA:2552
Monosomy 13Q34
Hypercalcemia, Epistaxis, Insulin resistance, Obesity, Hematochezia, Horizontal eyebrow, Hepatic ... ORPHA:96168
Purine Nucleoside Phosphorylase Deficiency
Autoimmune hemolytic anemia, Failure to thrive, Hypouricemia, Pneumonia, Pure red cell aplasia, A... OMIM:613179
Gitelman Syndrome
Respiratory distress, Urinary incontinence, Maternal diabetes, Decreased urinary potassium, Iron ... ORPHA:358
Fanconi Anemia, Complementation Group B
Ventriculomegaly, Aplastic anemia, Hypergonadotropic hypogonadism, Esophageal atresia, Hydrocepha... OMIM:300514
Mucopolysaccharidosis, Type Iiia
Hepatomegaly, Inguinal hernia, Hyperactivity, Heparan sulfate excretion in urine, Splenomegaly, S... OMIM:252900
Heterotaxy, Visceral, 11, Autosomal, With Male Infertility
Intestinal malrotation, Decreased nasal nitric oxide, Polysplenia, Chronic otitis media, Chronic ... OMIM:619608
Fructose-1,6-Bisphosphatase Deficiency
Elevated hepatic transaminase, Hepatomegaly, Respiratory distress, Increased urinary glycerol, Hy... ORPHA:348
Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease
Hepatomegaly, Failure to thrive, Diabetes mellitus, Foot joint contracture, Achilles tendon contr... ORPHA:456312
Asbestos Intoxication
Reduced vital capacity, Reduced forced vital capacity, Mediastinal lymphadenopathy, Atelectasis, ... ORPHA:2302
Typhoid
Gastrointestinal hemorrhage, Hepatomegaly, Skin rash, Epistaxis, Splenomegaly, Abnormal pulmonary... ORPHA:99745
Ellis Van Creveld Syndrome
Abnormal hair quantity, Hydroureter, Hypospadias, Abnormal hair morphology, Epispadias, Cryptorch... ORPHA:289
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Respiratory distress, Hepatomegaly, Renal insufficiency, Anorexia, Splenomegaly, Hyperammonemia, ... ORPHA:79312
Avian Influenza
Respiratory distress, Elevated circulating creatine kinase concentration, Elevated circulating C-... ORPHA:454836
Mitochondrial Complex I Deficiency, Nuclear Type 11
Hepatomegaly, Failure to thrive, Macrovesicular hepatic steatosis OMIM:618234
Cebalid Syndrome
Highly arched eyebrow, Congenital diaphragmatic hernia, High palate, Polyphagia, Thick eyebrow OMIM:618774
Diaphanospondylodysostosis
Respiratory distress, Inguinal hernia, Horseshoe kidney, Cleft palate, Respiratory insufficiency,... OMIM:608022
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome
Fasciitis, Intestinal obstruction, Myositis, Pericarditis, Elevated circulating C-reactive protei... ORPHA:32960
T-Cell Lymphoma, Subcutaneous Panniculitis-Like
Pancytopenia, Hypertriglyceridemia, Splenomegaly, Increased circulating ferritin concentration, P... OMIM:618398
Tyrosinemia Type 1
Acute hepatic failure, Hepatomegaly, Splenomegaly, Generalized aminoaciduria, Hepatocellular carc... ORPHA:882
Short Syndrome
Inguinal hernia, Diabetes mellitus, Lipodystrophy, Abnormal dental enamel morphology, Alopecia, I... ORPHA:3163
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Elevated hepatic transaminase, Hepatomegaly, Elevated circulating creatine kinase concentration, ... OMIM:600649
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation
Herpes simplex encephalitis, Bronchiectasis, Hepatosplenomegaly, Increased proportion of memory T... OMIM:618982
Combined Oxidative Phosphorylation Deficiency 19
Respiratory distress, Hepatomegaly, Elevated circulating aspartate aminotransferase concentration... OMIM:615595
Solitary Fibrous Tumor
Abnormal peritoneum morphology, Hypoglycemia, Pelvic mass, Reduced C-peptide level, Weight loss, ... ORPHA:2126
Hemochromatosis, Type 2B
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Increased circulating ferritin concent... OMIM:613313
Galactose Epimerase Deficiency
Hepatomegaly, Splenomegaly, Jaundice, Weight loss, Aminoaciduria ORPHA:79238
Fanconi-Bickel Syndrome
Hepatocellular carcinoma, Nephrocalcinosis, Fasting hypoglycemia, Nephropathy, Hepatomegaly, Elev... ORPHA:2088
Hypothyroidism, Congenital, Nongoitrous, 8
Inappropriately normal thyroid-stimulating hormone level, Central hypothyroidism, Decreased circu... OMIM:301033
Glycogen Storage Disease Iv
Failure to thrive, Portal hypertension, Esophageal varix, Hepatosplenomegaly, Ascites, Cirrhosis,... OMIM:232500
Jacobsen Syndrome
Recurrent respiratory infections, Inguinal hernia, Ventriculomegaly, Multicystic kidney dysplasia... ORPHA:2308
Lymphoproliferative Syndrome 2
Hepatomegaly, Pancytopenia, Aplastic anemia, Splenomegaly, Recurrent pneumonia, EBV encephalitis,... OMIM:615122
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Absent gallbladder, Broad lateral eyebrow, Unilateral lung agenesis, Failure to thrive in infancy... ORPHA:500150
Aicardi-Goutieres Syndrome 4
Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Splenomegaly, Hydrocephalus, Thrombocy... OMIM:610333
Hyperinsulinism-Hyperammonemia Syndrome
Increased urine alpha-ketoglutarate concentration, Reactive hypoglycemia, Fasting hyperinsulinemi... ORPHA:35878
Dextrocardia
Meckel diverticulum, Intestinal malrotation, Abnormality of the spleen, Hydrocephalus, Abnormal l... ORPHA:1666
Bile Acid Synthesis Defect, Congenital, 3
Hepatomegaly, Failure to thrive, Elevated circulating aspartate aminotransferase concentration, H... OMIM:613812
Hydrolethalus Syndrome 1
Omphalocele, Accessory spleen, Hypospadias, Abnormal lung lobation, Cleft palate, Severe hydrocep... OMIM:236680
Beta-Thalassemia Intermedia
Extramedullary hematopoiesis, Abnormality of the liver, Elevated hepatic iron concentration, Eryt... ORPHA:231222
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Elevated hepatic transaminase, Giant cell hepatitis, Small for gestational age, Hepatic melanin-l... OMIM:208085
Obesity Due To Sim1 Deficiency
Hyperinsulinemia, Obesity, Glucose intolerance, Attention deficit hyperactivity disorder, Polyphagia ORPHA:369873
Mandibuloacral Dysplasia With Type B Lipodystrophy
Calcinosis, Alopecia, Abnormal hair morphology, Hyperlipidemia, Insulin resistance, Generalized l... ORPHA:90154
Ciliary Dyskinesia, Primary, 47, And Lissencephaly
Respiratory distress, Recurrent respiratory infections, Abnormal mucociliary clearance, Atelectas... OMIM:619466
Coccidioidomycosis
Respiratory distress, Abnormality of the spleen, Abnormality of the liver, Cough, Morbilliform ra... ORPHA:228123
Acanthosis Nigricans With Muscle Cramps And Acral Enlargement
Insulin resistance OMIM:200170
Immunodeficiency 47
Accessory spleen, Normocytic anemia, Hepatomegaly, Elevated hepatic transaminase, Failure to thri... OMIM:300972
Fanconi Anemia, Complementation Group F
Pneumonia, Decreased response to growth hormone stimulation test, Cryptorchidism, Renal hypoplasi... OMIM:603467
Cimdag Syndrome
Hepatomegaly, Lipodystrophy, Microvesicular hepatic steatosis, Hypogonadism, Cholelithiasis OMIM:619273
Proteasome-Associated Autoinflammatory Syndrome 1
Decreased HDL cholesterol concentration, Elevated circulating C-reactive protein concentration, M... OMIM:256040
Cholestasis, Progressive Familial Intrahepatic, 3
Elevated hepatic transaminase, Hepatomegaly, Malabsorption, Splenomegaly, Jaundice, Intrahepatic ... OMIM:602347
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs
Hypospadias, Congenital diaphragmatic hernia, Pulmonary artery stenosis, Cleft palate, Bilateral ... OMIM:611812
Rotor Syndrome
Bilirubinuria, Conjugated hyperbilirubinemia, Jaundice, Porphyrinuria, Intermittent jaundice, Hyp... ORPHA:3111
Congenital Bile Acid Synthesis Defect Type 3
Elevated circulating aspartate aminotransferase concentration, Jaundice, Elevated circulating ala... ORPHA:79302
Thyroid Hormone Metabolism, Abnormal, 2
Hypercholesterolemia, Elevated circulating rT3/T3 ratio, Elevated circulating reverse T3 concentr... OMIM:619855
Sea-Blue Histiocyte Disease
Elevated circulating aspartate aminotransferase concentration, Splenomegaly, Elevated circulating... OMIM:269600
Ciliary Dyskinesia, Primary, 21
Neonatal respiratory distress, Atelectasis, Recurrent pneumonia, Bronchiectasis, Decreased nasal ... OMIM:615294
Follicular Lymphoma
Abnormal peritoneum morphology, Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Weigh... ORPHA:545
Low Phospholipid-Associated Cholelithiasis
Elevated hepatic transaminase, Liver abscess, Hypercholesterolemia, Cholangitis, Diabetes mellitu... ORPHA:69663
Niemann-Pick Disease, Type A
Hepatomegaly, Recurrent respiratory infections, Elevated circulating aspartate aminotransferase c... OMIM:257200
Mitochondrial Complex Iv Deficiency, Nuclear Type 6
Hepatic steatosis OMIM:615119
Smith-Magenis Syndrome
Hyperactivity, Hypertriglyceridemia, Abnormality of the thyroid gland, Velopharyngeal insufficien... OMIM:182290
Syndromic Multisystem Autoimmune Disease Due To Itch Deficiency
Acute hepatic failure, Pancytopenia, Failure to thrive in infancy, Cholangitis, Portal hypertensi... ORPHA:228426
Autoinflammatory Disease, Familial, Behcet-Like 3
Ileitis OMIM:618287
Deafness-Lymphedema-Leukemia Syndrome
Hepatomegaly, Recurrent respiratory infections, Abnormal neutrophil count, Splenomegaly, Leukocyt... ORPHA:3226
Selective Igm Deficiency
Fasciitis, Lymphadenitis, Recurrent cutaneous fungal infections, Decreased proportion of transiti... ORPHA:331235
Marfan Syndrome
Inguinal hernia, Arthralgia/arthritis, Spontaneous pneumothorax, Cachexia, High, narrow palate, E... ORPHA:558
Lethal Hemolytic Anemia-Genital Anomalies Syndrome
Hypoplasia of penis, Hypospadias, Splenomegaly, Abnormality of the ureter, Respiratory insufficie... ORPHA:1046
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Decreased circulating cortisol level, Renal salt wasting, Increased circulating renin level, Prem... ORPHA:90791
Autoimmune Lymphoproliferative Syndrome
Uveitis, Colitis, Thyroid carcinoma, Lymphocytosis, Increased B cell count, Elevated proportion o... ORPHA:3261
Cystic Fibrosis
Reduced forced expiratory volume in one second, Reduced forced vital capacity, Rectal prolapse, H... OMIM:219700
Congenital Pulmonary Lymphangiectasia
Respiratory distress, Hepatomegaly, Splenomegaly, Chronic pulmonary obstruction, Gastroesophageal... ORPHA:2414
Bile Acid Synthesis Defect, Congenital, 4
Elevated hepatic transaminase, Hepatomegaly, Giant cell hepatitis, Failure to thrive, Elevated ci... OMIM:214950
Immunodeficiency 60 And Autoimmunity
Recurrent sinopulmonary infections, Pancytopenia, Splenomegaly, Bronchiectasis, Ulcerative coliti... OMIM:618394
Infantile Osteopetrosis With Neuroaxonal Dysplasia
Pneumonia, Ventriculomegaly ORPHA:85179
Ciliary Dyskinesia, Primary, 14
Recurrent respiratory infections, Neonatal respiratory distress, Absent inner dynein arms, Cough,... OMIM:613807
Slc35A1-Cdg
Respiratory distress, Pneumonia, Giant platelets, Hypoxemia, Neutropenia, Cellulitis, Abnormal pl... ORPHA:238459
Cortisone Reductase Deficiency 2
Insulin resistance, Obesity, Premature pubarche OMIM:614662
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism
Hepatomegaly, Diabetes mellitus, Increased circulating thyroglobulin level, Portal hypertension, ... OMIM:610199
Dysbetalipoproteinemia
Hepatomegaly, Acute pancreatitis, Decreased HDL cholesterol concentration, Hypertriglyceridemia, ... ORPHA:412
Facioscapulohumeral Muscular Dystrophy 3, Digenic
Aspiration pneumonia OMIM:619477
Prader-Willi Syndrome
Decreased response to growth hormone stimulation test, Xerostomia, Polyphagia, Periodontitis, Pre... ORPHA:739
Immunodeficiency 69
Pancytopenia, Skin rash, Splenomegaly, Leukocytosis, Increased circulating ferritin concentration... OMIM:618963
Somatostatinoma
Anorexia, Hepatomegaly, Intermittent jaundice, Increased circulating cortisol level, Adrenocortic... ORPHA:97283
Hypotonia-Cystinuria Syndrome
Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Polyphagia... OMIM:606407
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Diffuse mesangial sclerosis, Hepatomegaly, Autoimmune hemolytic anemia, Severe B lymphocytopenia,... OMIM:102700
Familial Hyperaldosteronism Type Iii
Adrenal hyperplasia, Epistaxis, Glucocortocoid-insensitive primary hyperaldosteronism, Hypercalci... ORPHA:251274
Sotos Syndrome
Ureteral duplication, Neonatal hypoglycemia, Flexion contracture, Gastroesophageal reflux, Vesico... ORPHA:821
Mucopolysaccharidosis Type 1
Recurrent respiratory infections, Inguinal hernia, Sinusitis, Apnea, Abnormality of the tonsils, ... ORPHA:579
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Hyperactivity, Small for gestational age, Hypoglycemia, Insulin resistance, Low anterior hairline... ORPHA:73272
Autoimmune Polyendocrinopathy Type 1
Hypoparathyroidism, Alopecia, Adrenal hyperplasia, Primary adrenal insufficiency, Chronic mucocut... ORPHA:3453
Budd-Chiari Syndrome
Elevated hepatic transaminase, Acute hepatic failure, Hepatomegaly, Gastrointestinal hemorrhage, ... ORPHA:131
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14
Small for gestational age, Maturity-onset diabetes of the young, Precocious puberty, Pyloric sten... ORPHA:96184
Autosomal Dominant Hyper-Ige Syndrome
Recurrent respiratory infections, Osteomyelitis, Skin rash, Eosinophilia, Eczema, Cough, Atelecta... ORPHA:2314
Marfan Syndrome
Reduced subcutaneous adipose tissue, Pulmonary artery dilatation, Incisional hernia, Flexion cont... OMIM:154700
Gaisböck Syndrome
Hypertriglyceridemia, Diabetes mellitus, Peptic ulcer, Overweight, Splenomegaly, Dyspnea, Increas... ORPHA:90041
Acute Lung Injury
Respiratory distress, Acute pancreatitis, Pneumonia, Elevated circulating C-reactive protein conc... ORPHA:178320
Immunodeficiency 92
Hepatomegaly, Osteomyelitis, Cholangitis, Pneumonia, Leukocytosis, Decreased proportion of class-... OMIM:619652
Ciliary Dyskinesia, Primary, 1
Communicating hydrocephalus, Nasal polyposis, Pneumonia, Asplenia, Absent outer dynein arms, Atel... OMIM:244400
Mucus Inspissation Of Respiratory Tract
Recurrent respiratory infections, Atelectasis, Chronic pulmonary obstruction, Bronchiectasis, Chr... OMIM:253240
Aggressive Systemic Mastocytosis
Gastrointestinal hemorrhage, Pancytopenia, Maculopapular exanthema, Portal hypertension, Anorexia... ORPHA:98850
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1
Failure to thrive, Sinusitis, Pneumonia, Protruding tongue, Malabsorption, Bronchiectasis, T lymp... OMIM:242860
Graves Disease, Susceptibility To, 1
Decreased thyroid-stimulating hormone level, Hyperactivity, Increased circulating free T4 concent... OMIM:275000
1P36 Deletion Syndrome
Hypoplasia of penis, Abnormality of the spleen, Renal cyst, Abnormality of the liver, Gastroesoph... ORPHA:1606
Hypermetabolism Due To Uncoupled Mitochondrial Oxidative Phosphorylation 2
Hypervalinemia, Tachypnea, Hyperammonemia, Increased blood urea nitrogen, Hyperisoleucinemia, Hyp... OMIM:620085
Ciliary Dyskinesia, Primary, 33
Atelectasis, Recurrent pneumonia, Bronchiectasis, Ciliary dyskinesia, Chronic rhinitis, Cough, Re... OMIM:616726
Combined Oxidative Phosphorylation Deficiency 21
Hyperalaninemia, Hepatic steatosis, Hyperprolinemia OMIM:615918
Combined Immunodeficiency, X-Linked
Sinusitis, Pneumonia, Decreased proportion of CD8-positive T cells, Otitis media, Decreased propo... OMIM:312863
Congenital Rubella Syndrome
Hepatomegaly, Skin rash, Splenomegaly, Jaundice, Anemia, Type I diabetes mellitus, Abnormality of... ORPHA:290
Combined Immunodeficiency-Enteropathy Spectrum
Omphalocele, Absent eyebrow, Autoimmune hemolytic anemia, Psoriasiform dermatitis, Intestinal mal... ORPHA:436252
Infantile Liver Failure Syndrome 3
Acute hepatic failure, Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Jaundice, Chole... OMIM:618641
Primary Sclerosing Cholangitis
Acute hepatic failure, Abnormal eosinophil morphology, Uveitis, Hepatic fibrosis, Hypoalbuminemia... ORPHA:171
Caroli Disease
Liver abscess, Cholangitis, Anorexia, Conjugated hyperbilirubinemia, Hepatic fibrosis, Hepatomega... ORPHA:53035
Mucopolysaccharidosis Type 6
Sinusitis, Splenomegaly, Recurrent upper respiratory tract infections, Macroglossia, Mucopolysacc... ORPHA:583
Hypobetalipoproteinemia, Familial, 1
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Elevated circulating aspartate ami... OMIM:615558
Gamma-Heavy Chain Disease
Hepatomegaly, Autoimmune hemolytic anemia, Recurrent respiratory infections, Skin rash, Autoimmun... ORPHA:100026
Steinert Myotonic Dystrophy
Intestinal pseudo-obstruction, Decreased response to growth hormone stimulation test, Oral-pharyn... ORPHA:273
Splenoportal Vascular Anomalies
Diabetes mellitus, Anomalous splenoportal venous system, Splenomegaly, Hyperammonemia, Hepatic fi... OMIM:271500
Pyruvate Dehydrogenase E1-Alpha Deficiency
Increased serum pyruvate, Neonatal respiratory distress, Small for gestational age, Flexion contr... ORPHA:79243
Cutis Laxa, Autosomal Dominant 1
Inguinal hernia, Dyspnea, Bronchiectasis, Uterine prolapse, Emphysema, Peripheral pulmonary arter... OMIM:123700
Portal Hypertension, Noncirrhotic, 2
Elevated hepatic transaminase, Hepatomegaly, Epistaxis, Portal hypertension, Nodular regenerative... OMIM:619463
Autoinflammation, Immune Dysregulation, And Eosinophilia
Eosinophilic liver infiltration, Eosinophilia, Asthma, Atopic dermatitis, Hepatosplenomegaly, Nep... OMIM:618999
Oculocerebrorenal Syndrome Of Lowe
Hyperparathyroidism, Hypoammonemia, Oligosacchariduria, Nephrocalcinosis, Aminoaciduria, Gastroes... ORPHA:534
Proteasome-Associated Autoinflammatory Syndrome 4
Hepatomegaly, Autoimmune hemolytic anemia, Myositis, Splenomegaly, Flexion contracture, Lymphaden... OMIM:619183
Yellow Nail Syndrome
Recurrent respiratory infections, Sinusitis, Biliary tract neoplasm, Dyspnea, Yellow nails, Bronc... ORPHA:662
Familial Apolipoprotein Gene Cluster Deletion Syndrome
Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ... OMIM:620058
Idiopathic Steroid-Resistant Nephrotic Syndrome
Diffuse mesangial sclerosis, Abnormal circulating lipid concentration, Foamy urine, Proteinuria, ... ORPHA:567548
Glycogen Storage Disease Due To Acid Maltase Deficiency
Respiratory distress, Hepatomegaly, Orthopnea, Elevated circulating creatine kinase concentration... ORPHA:365
Glucagonoma
Anorexia, Hepatomegaly, Acanthocytosis, Intermittent jaundice, Increased circulating cortisol lev... ORPHA:97280
Hereditary Amyloidosis With Primary Renal Involvement
Decreased HDL cholesterol concentration, Intestinal perforation, Tubulointerstitial nephritis, Ga... ORPHA:85450
B4Galt1-Cdg
Elevated hepatic transaminase, Hepatomegaly, Inflammatory abnormality of the skin, Small for gest... ORPHA:79332
Bile Acid Synthesis Defect, Congenital, 2
Elevated hepatic transaminase, Hepatomegaly, Failure to thrive, Splenomegaly, Jaundice, Intrahepa... OMIM:235555
Tracheobronchopathia Osteochondroplastica
Recurrent respiratory infections, Pneumonia, Bronchitis, Productive cough, Atelectasis, Wheezing,... ORPHA:3348
Placental Insufficiency
Insulin resistance, Abnormal lung morphology, Small for gestational age, Hypoxemia ORPHA:439167
Congenital Disorder Of Glycosylation, Type Iiw
Microcytic anemia, Gastroesophageal reflux, Hepatic steatosis, Hepatomegaly, Membranoproliferativ... OMIM:619525
Maternal Uniparental Disomy Of Chromosome 4
Neurogenic bladder, Abetalipoproteinemia, Elevated circulating creatine kinase concentration, Dia... ORPHA:96180
Miller-Dieker Lissencephaly Syndrome
Omphalocele, Inguinal hernia, Failure to thrive, Cryptorchidism, Cleft palate, Pelvic kidney, Cam... OMIM:247200
Duodenal Atresia
Abnormality of the pancreas, Annular pancreas, Abnormality of the pulmonary artery, Duodenal atresia ORPHA:1203
Hemochromatosis, Type 2A
Hepatomegaly, Hypogonadotropic hypogonadism, Splenomegaly, Increased circulating ferritin concent... OMIM:602390
Serkal Syndrome
Abnormal penis morphology, Hypospadias, Congenital diaphragmatic hernia, Malrotation of small bow... ORPHA:139466
Renal-Hepatic-Pancreatic Dysplasia 1
Asplenia, Hepatic fibrosis, Dandy-Walker malformation, Hepatomegaly, Portal hypertension, Malform... OMIM:208540
Degcags Syndrome
Oral-pharyngeal dysphagia, Synophrys, Bilateral renal hypoplasia, Low anterior hairline, Prematur... OMIM:619488
Microvillus Inclusion Disease
Nephrocalcinosis, Villous atrophy, Abnormal small intestinal villus morphology, Abnormal renal ph... ORPHA:2290
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections With Or Without Deafness
Atelectasis, Chronic sinusitis, Recurrent bronchitis, Otitis media OMIM:300455
Ataxia-Pancytopenia Syndrome
Recurrent respiratory infections, Pancytopenia, Abnormal macrophage morphology, Abnormality of ne... ORPHA:2585
Prader-Willi Syndrome
Recurrent respiratory infections, Hypoventilation, Hypopigmentation of hair, Failure to thrive in... OMIM:176270
Familial Hyperaldosteronism Type I
Adrenal hyperplasia, Epistaxis, Abnormal circulating renin, Hypokalemia, Dexamethasone-suppressib... ORPHA:403
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Decreased circulating cortisol level, Bilateral cryptorchidism, Absent pubic hair, Male hypogonad... ORPHA:90793
Glycogen Storage Disease Ixb
Hepatomegaly, Hypoglycemia, Splenomegaly, Increased muscle glycogen content, Hyperuricemia, Incre... OMIM:261750
Classic Mycosis Fungoides
Hepatomegaly, Alopecia, Skin rash, Eczema, Splenomegaly, Lymphadenopathy, Abnormal lymphocyte mor... ORPHA:2584
Classic Hodgkin Lymphoma
Hepatomegaly, Skin rash, Anorexia, Splenomegaly, Respiratory insufficiency, Weight loss, Lymphade... ORPHA:391
Macrophage Activation Syndrome
Hepatomegaly, Increased inflammatory response, Hypertriglyceridemia, Elevated circulating asparta... ORPHA:158061
Mu-Heavy Chain Disease
Hepatomegaly, Abnormal B cell count, Bence Jones Proteinuria, Splenomegaly, Lymphadenopathy, Weig... ORPHA:100024
Free Sialic Acid Storage Disease
Recurrent respiratory infections, Hepatomegaly, Failure to thrive in infancy, Proteinuria, Spleno... ORPHA:834
Cat Eye Syndrome
Anal stenosis, Intestinal malrotation, Rectal fistula, Rectal atresia, Biliary atresia, Horseshoe... OMIM:115470
Sézary Syndrome
Hepatomegaly, Alopecia, Abnormal pleura morphology, Splenomegaly, Lymphadenopathy, Nail dystrophy... ORPHA:3162
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis
Autoimmune hemolytic anemia, Pneumonia, Glomerulonephritis, Plasmacytosis, Lymphopenia OMIM:247800
Congenital Analbuminemia
Small for gestational age, Lipodystrophy, Hyperlipidemia, Obesity, Increased alpha-globulin, Hypo... ORPHA:86816
Acth-Independent Macronodular Adrenal Hyperplasia
Adrenal hyperplasia, Decreased circulating ACTH concentration, Truncal obesity, Increased circula... OMIM:219080
Ehlers-Danlos Syndrome, Vascular Type
Pulmonary bulla, Inguinal hernia, Recurrent intrapulmonary hemorrhage, Spontaneous pneumothorax, ... OMIM:130050
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Alopecia, Cachexia, Anorexia, Malabsorption, Xerostomia, Hamartomatous polyposis, Hematochezia, H... OMIM:175500
Martinez-Frias Syndrome
Intestinal hypoplasia, Hypoplasia of the gallbladder, Hypospadias, Intestinal malrotation, Jejuna... OMIM:601346
22Q11.2 Deletion Syndrome
Anorectal anomaly, Abnormal lung lobation, Hypoplasia of the thymus, Hypocalcemia, Gastroesophage... ORPHA:567
Body Mass Index Quantitative Trait Locus 20
Hyperinsulinemia, Polyphagia, Obesity OMIM:618406
X-Linked Sideroblastic Anemia
Elevated hepatic transaminase, Splenomegaly, Dyspnea, Glucose intolerance, Abnormality of iron ho... ORPHA:75563
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation
Maturity-onset diabetes of the young, Precocious puberty, Obesity, High palate, Recurrent otitis ... ORPHA:254531
Hemoglobin H Disease
Hemolytic anemia, Hepatomegaly, Splenomegaly, Reduced alpha/beta synthesis ratio, HbH hemoglobin OMIM:613978
Carnitine-Acylcarnitine Translocase Deficiency
Elevated hepatic transaminase, Hepatomegaly, Dicarboxylic aciduria, Hypoglycemia, Elevated circul... OMIM:212138
Gaucher Disease, Perinatal Lethal
Respiratory distress, Hepatomegaly, Apnea, Cardiomegaly, Splenomegaly, Thrombocytopenia, Dysphagi... OMIM:608013
Dominant Beta-Thalassemia
Extramedullary hematopoiesis, Anisocytosis, Hepatic fibrosis, Hypothyroidism, Hypoparathyroidism,... ORPHA:231226
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations
Normocytic anemia, Gastrointestinal hemorrhage, Proteinuria, Pneumonia, Skin rash, Nodular regene... ORPHA:247691
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Elevated hepatic transaminase, Brain abscess, Neutrophilia, Liver abscess, Elevated circulating C... ORPHA:54251
Fetal Gaucher Disease
Hepatomegaly, Pancytopenia, Splenomegaly, Abnormality of the spleen, Flexion contracture, High pa... ORPHA:85212
Turner Syndrome Due To Structural X Chromosome Anomalies
Ectopic kidney, High, narrow palate, Gastrointestinal inflammation, Glucose intolerance, Inflamma... ORPHA:99413
Mosaic Monosomy X
Ectopic kidney, High, narrow palate, Gastrointestinal inflammation, Glucose intolerance, Inflamma... ORPHA:99228
Monosomy X
Ectopic kidney, High, narrow palate, Gastrointestinal inflammation, Glucose intolerance, Inflamma... ORPHA:99226
Turner Syndrome
Ectopic kidney, High, narrow palate, Gastrointestinal inflammation, Glucose intolerance, Inflamma... ORPHA:881
Harderoporphyria
Hepatomegaly, Hemolytic anemia, Reticulocytosis, Increased urine harderoporphyrin level, Splenome... OMIM:618892
Pachydermoperiostosis
Gastrointestinal hemorrhage, Hepatomegaly, Abnormal hair quantity, Osteomyelitis, Acne, Peptic ul... ORPHA:2796
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Hepatomegaly, Intestinal obstruction, Malabsorption, Pulmonary embolism, Hypothyroidism, Iron def... OMIM:226300
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy
Small for gestational age, Elevated circulating aspartate aminotransferase concentration, Hypogly... OMIM:617093
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive
Pneumonia, Purulent rhinitis, T lymphocytopenia, Arthritis, B lymphocytopenia, Conjunctivitis, Fa... OMIM:601457
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Hepatomegaly, Impaired glucose tolerance, Splenomegaly, Hydrocephalus, Chronic kidney disease, Ob... OMIM:615630
Congenital Contractural Arachnodactyly
Camptodactyly of finger, Intestinal malrotation, Flexion contracture, Tracheoesophageal fistula, ... ORPHA:115
Isolated Thyroid-Stimulating Hormone Deficiency
Decreased thyroid-stimulating hormone level, Thyroid hypoplasia, Macroorchidism, Hypercholesterol... ORPHA:90674
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Hepatomegaly, Extramedullary hematopoiesis, Splenomegaly, Thrombocytopenia, Leukopenia, Neutropen... OMIM:615285
Musculocontractural Ehlers-Danlos Syndrome
Inguinal hernia, Recurrent skin infections, Cryptorchidism, Abnormal mesentery morphology, Pneumo... ORPHA:2953
Pseudo-Torch Syndrome 1
Elevated hepatic transaminase, Hepatomegaly, Renal insufficiency, Splenomegaly, Thrombocytopenia,... OMIM:251290
Neuraminidase Deficiency
Hepatomegaly, Inguinal hernia, Urinary excretion of sialylated oligosaccharides, Proteinuria, Bon... OMIM:256550
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome
Adrenal hyperplasia, Epistaxis, Nephrolithiasis, Abnormal circulating renin, Hypokalemia, Hyperal... ORPHA:369929
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss
Elevated circulating aspartate aminotransferase concentration, Splenomegaly, Jaundice, Elevated c... OMIM:619658
Griscelli Syndrome Type 2
Hepatomegaly, Pancytopenia, Hypopigmentation of hair, Splenomegaly, Jaundice, Hyperlipidemia, Lym... ORPHA:79477
Portal Hypertension, Noncirrhotic, 1
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Splenomegaly, Esophageal varix OMIM:617068
Alpha-Mannosidosis, Adult Form
Pancytopenia, Pneumonia, Oligosacchariduria, Hepatosplenomegaly, Macroglossia, Recurrent gastroen... ORPHA:309288
Symptomatic Form Of Hfe-Related Hemochromatosis
Cholangiocarcinoma, Hepatomegaly, Decreased serum testosterone concentration, Hypogonadotropic hy... ORPHA:465508
Desmoplastic Small Round Cell Tumor
Abnormal peritoneum morphology, Hepatomegaly, Neoplasm of the pancreas, Cachexia, Testicular neop... ORPHA:83469
Citrullinemia, Type Ii, Neonatal-Onset
Hypertyrosinemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterol... OMIM:605814
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Elevated hepatic transaminase, Hepatomegaly, Anisocytosis, Conjugated hyperbilirubinemia, Splenom... OMIM:616860
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Chronic oral candidiasis, Abscess, Abnormal CD4:CD8 ratio, Splenomegaly, Recurrent pneumonia, Neu... OMIM:150550
14Q11.2 Microduplication Syndrome
Highly arched eyebrow, Aggressive behavior, Polyphagia, Obesity, Attention deficit hyperactivity ... ORPHA:261229
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)
Fulminant hepatic failure, Hepatomegaly, Elevated circulating aspartate aminotransferase concentr... OMIM:618528
Sialuria
Hepatomegaly, Inguinal hernia, Splenomegaly, Synophrys, Hirsutism, Low posterior hairline, Macrog... OMIM:269921
Joubert Syndrome With Hepatic Defect
Elevated hepatic transaminase, Hepatomegaly, Inguinal hernia, Multicystic kidney dysplasia, Renal... ORPHA:1454
Mucopolysaccharidosis, Type Iiid
Hepatomegaly, Inguinal hernia, Hyperactivity, Restlessness, Thick eyebrow, Aggressive behavior, H... OMIM:252940
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Elevated hepatic transaminase, Hepatomegaly, Elevated circulating creatine kinase concentration, ... OMIM:615895
Idiopathic Copper-Associated Cirrhosis
Decreased circulating ceruloplasmin concentration, Copper accumulation in liver, Increased urinar... ORPHA:209919
Ppoma
Anorexia, Hepatomegaly, Intermittent jaundice, Increased circulating cortisol level, Adrenocortic... ORPHA:97278
Ornithine Transcarbamylase Deficiency
Hypoglycemia, Splenomegaly, Pyloric stenosis, Hyperammonemia, Aminoaciduria, Hepatic failure ORPHA:664
Hypermethioninemia Due To Adenosine Kinase Deficiency
Elevated circulating creatine kinase concentration, Elevated circulating alanine aminotransferase... OMIM:614300
Paternal Uniparental Disomy Of Chromosome 1
Membranoproliferative glomerulonephritis, Proteinuria, Abnormal dental enamel morphology, Hyperca... ORPHA:251004
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome
Hepatomegaly, Sparse scalp hair, Sparse eyelashes, Abnormal dental enamel morphology, Portal hype... ORPHA:59303
Lymphoproliferative Syndrome 1
Hepatomegaly, Pancytopenia, Autoimmune hemolytic anemia, Stomatitis, Elevated circulating C-react... OMIM:613011
Lujo Hemorrhagic Fever
Elevated hepatic transaminase, Respiratory distress, Renal insufficiency, Maculopapular exanthema... ORPHA:319213
Ciliary Dyskinesia, Primary, 29
Recurrent respiratory infections, Atelectasis, Decreased nasal nitric oxide, Bronchiectasis, Cili... OMIM:615872
Nodular Non-Suppurative Panniculitis
Hepatomegaly, Splenomegaly, Weight loss, Panniculitis, Inflammatory abnormality of the eye ORPHA:33577
Ciliary Dyskinesia, Primary, 9
Neonatal respiratory distress, Pneumonia, Absent outer dynein arms, Bronchiectasis, Decreased nas... OMIM:612444
Autoinflammation, Antibody Deficiency, And Immune Dysregulation
Recurrent sinopulmonary infections, Enterocolitis, Ulcerative colitis, Decreased proportion of cl... OMIM:614878
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Apnea, Decreased response to growth hormone stimulation test, Fetal ascites, Synophrys, Flexion c... OMIM:619503
Familial Adenomatous Polyposis
Duodenal polyposis, Multiple gastric polyps, Papillary thyroid carcinoma, Adenocarcinoma of the s... ORPHA:733
Progressive Encephalopathy With Leukodystrophy Due To Decr Deficiency
Abnormal circulating carnitine concentration, Renal tubular acidosis, Organic aciduria, Aspiratio... ORPHA:431361
Cog8-Cdg
Elevated hepatic transaminase, Hypoglycemia, Protein-losing enteropathy, Failure to thrive, Ventr... ORPHA:95428
Feingold Syndrome
Abnormality of the spleen, Annular pancreas, Esophageal atresia, Duodenal atresia ORPHA:1305
Neurodevelopmental Disorder With Epilepsy And Brain Atrophy
Gastroesophageal reflux, Recurrent aspiration pneumonia, Attention deficit hyperactivity disorder OMIM:619971
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease
Elevated hepatic transaminase, Multicystic kidney dysplasia, Renal insufficiency, Hypospadias, Di... ORPHA:93111
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies
Alopecia, Cleft soft palate, Intestinal malrotation, Leukocytosis, Hydrocephalus, Flexion contrac... OMIM:619321
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency
Hypertriglyceridemia, Hepatitis, Cholestasis, Obesity, Increased LDL cholesterol concentration, A... ORPHA:209902
Systemic-Onset Juvenile Idiopathic Arthritis
Hepatomegaly, Pericarditis, Anterior uveitis, Skin rash, Elevated circulating C-reactive protein ... ORPHA:85414
Adnp Syndrome
Respiratory distress, Sparse scalp hair, Inguinal hernia, Urinary incontinence, Oral-pharyngeal d... ORPHA:404448
Acyl-Coa Dehydrogenase 9 Deficiency
Acute hepatic failure, Elevated hepatic transaminase, Nonketotic hypoglycemia, Dicarboxylic acidu... ORPHA:99901
Hemophagocytic Lymphohistiocytosis, Familial, 1
Hyponatremia, Hepatomegaly, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Increa... OMIM:267700
Type 1 Diabetes Mellitus
Diabetes mellitus, Polyuria, Decreased level of 1,5 anhydroglucitol in serum, Hyperglycemia, Poly... OMIM:222100
Glycogen Storage Disease Ixc
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Hypoglycemia, Splenomegaly, Bi... OMIM:613027
Immunodeficiency 84
Perianal abscess, Splenomegaly, B lymphocytopenia OMIM:619437
Hurler-Scheie Syndrome
Hepatomegaly, Inguinal hernia, Recurrent respiratory infections, Camptodactyly of finger, Heparan... OMIM:607015
Cutis Laxa, Autosomal Recessive, Type Ib
Inguinal hernia, Congenital diaphragmatic hernia, Emphysema, High palate, Pulmonary artery aneury... OMIM:614437
Mucopolysaccharidosis, Type Iiib
Hepatomegaly, Hyperactivity, Aggressive behavior, Heparan sulfate excretion in urine, Splenomegal... OMIM:252920
Hypertriglyceridemia 2
Hypercholesterolemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia OMIM:619324
Neutral Lipid Storage Disease With Ichthyosis
Elevated hepatic transaminase, Hepatomegaly, Alopecia, Hypertriglyceridemia, Micronodular cirrhos... ORPHA:98907
Beta-Thalassemia Major
Extramedullary hematopoiesis, Hepatic fibrosis, Hypothyroidism, Hypoparathyroidism, Hepatomegaly,... ORPHA:231214
Kikuchi-Fujimoto Disease
Generalized lymphadenopathy, Anorexia, Elevated circulating C-reactive protein concentration, Leu... ORPHA:50918
Proteus-Like Syndrome
Communicating hydrocephalus, Thymus hyperplasia, Splenomegaly, Hydrocephalus, Abnormality of the ... ORPHA:2969
Oculopharyngodistal Myopathy
Oral-pharyngeal dysphagia, Respiratory insufficiency due to muscle weakness, High, narrow palate,... ORPHA:98897
Arima Syndrome
Dilated fourth ventricle, Hepatomegaly, Proteinuria, Polyuria, Dyspnea, Tachypnea, Esophageal var... OMIM:243910
Hyperbilirubinemia, Shunt, Primary
Hepatomegaly, Reticulocytosis, Anemia of inadequate production, Splenomegaly, Jaundice, Hyperbili... OMIM:237800
Niemann-Pick Disease, Type C2
Hepatomegaly, Neonatal respiratory distress, Bone-marrow foam cells, Fetal ascites, Splenomegaly,... OMIM:607625
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy
Hypoventilation, Myositis, Increased connective tissue, Protruding tongue, Atelectasis, Intercost... ORPHA:258
Mandibuloacral Dysplasia With Type A Lipodystrophy
Abnormal eyebrow morphology, Alopecia, Absent eyelashes, Insulin resistance, Hyperlipidemia, Flex... ORPHA:90153
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia
Urinary bladder sphincter dysfunction, Hepatic steatosis, Elevated circulating creatine kinase co... ORPHA:52430
Squalene Synthase Deficiency
Failure to thrive in infancy, Hypospadias, Increased circulating farnesol concentration, Bilatera... OMIM:618156
Gaucher Disease, Type Ii
Hepatomegaly, Apnea, Cough, Splenomegaly, Anemia, Stridor, Gastroesophageal reflux, Dysphagia, Br... OMIM:230900
Smith-Magenis Syndrome
Hypertriglyceridemia, Failure to thrive in infancy, Precocious puberty, Hypothyroidism, Synophrys... ORPHA:819
Dyskeratosis Congenita
Abnormality of neutrophils, Anorectal anomaly, White hair, Premature graying of hair, Periodontit... ORPHA:1775
Mitochondrial Complex Iv Deficiency, Nuclear Type 1
Respiratory distress, Hepatomegaly, Hyperphosphaturia, Proteinuria, Respiratory insufficiency due... OMIM:220110
Adams-Oliver Syndrome 5
Inguinal hernia, Hypersplenism, Portal vein thrombosis, Splenomegaly, Esophageal varix, Pulmonary... OMIM:616028
Glycogen Storage Disease Ib
Elevated hepatic transaminase, Hepatomegaly, Pancreatic fibrosis, Proteinuria, Hypoglycemia, Hepa... OMIM:232220
Familial Hyperaldosteronism Type Ii
Adrenal hyperplasia, Epistaxis, Glucocortocoid-insensitive primary hyperaldosteronism, Abnormal c... ORPHA:404
Immunodeficiency 58
Colitis, Chronic otitis media, Recurrent cutaneous abscess formation, Chronic pulmonary obstructi... OMIM:618131
Idiopathic Pulmonary Hemosiderosis
Hepatomegaly, Glomerulonephritis, Nodular pattern on pulmonary HRCT, Diffuse alveolar hemorrhage,... ORPHA:99931
Trigonocephaly 1
Omphalocele, High, narrow palate, Synophrys, Long penis, Meckel diverticulum OMIM:190440
Mandibuloacral Dysplasia Progeroid Syndrome
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Proteinuria, Elevated hemoglob... OMIM:619127
Persistent Polyclonal B-Cell Lymphocytosis
Splenomegaly, Lymphocytosis, Hepatomegaly OMIM:606445
Pmm2-Cdg
Respiratory distress, Multiple joint contractures, Elevated circulating thyroid-stimulating hormo... ORPHA:79318
3-Hydroxy-3-Methylglutaric Aciduria
Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Ketonuria, Nonketotic hypoglycem... ORPHA:20
Hurler Syndrome
Hepatomegaly, Inguinal hernia, Recurrent respiratory infections, Heparan sulfate excretion in uri... OMIM:607014
Bloom Syndrome
Small for gestational age, Elevated hemoglobin A1c, Cryptorchidism, Recurrent upper respiratory t... OMIM:210900
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction
Respiratory distress, Decreased response to growth hormone stimulation test, Crackles, Elevated c... OMIM:610978
Hyperproinsulinemia
Hyperglycemia, Hyperinsulinemia OMIM:616214
Gardner Syndrome
Neoplasm of the pancreas, Duodenal polyposis, Hepatoblastoma, Ampulla of Vater carcinoma, Adrenoc... ORPHA:79665
Trappc11-Related Limb-Girdle Muscular Dystrophy R18
Elevated hepatic transaminase, Hepatomegaly, Restrictive ventilatory defect, Abnormal circulating... ORPHA:369840
Intellectual Developmental Disorder, Autosomal Dominant 39
Aggressive behavior, Hydrocephalus, Obesity, Polyphagia, Self-mutilation OMIM:616521
Autoimmune Polyendocrinopathy Type 4
Atrophic gastritis, Xerostomia, Leukopenia, Tubulointerstitial nephritis, Hashimoto thyroiditis, ... ORPHA:227990
Mucopolysaccharidosis, Type Vi
Hepatomegaly, Inguinal hernia, Pneumonia, Splenomegaly, Hydrocephalus, Flexion contracture, Recur... OMIM:253200
3-Methylglutaconic Aciduria, Type V
Hypospadias, Elevated circulating aspartate aminotransferase concentration, Microvesicular hepati... OMIM:610198
Gaucher Disease Type 1
Hepatomegaly, Pancytopenia, Proteinuria, Anorexia, Hypersplenism, Splenomegaly, Thrombocytopenia,... ORPHA:77259
Fanconi-Bickel Syndrome
Fasting hypoglycemia, Hepatomegaly, Ketonuria, Hypouricemia, Elevated circulating aspartate amino... OMIM:227810
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Hepatomegaly, Renal insufficiency, Portal hypertension, Absence of renal corticomedullary differe... OMIM:263200
Aromatase Deficiency
Eunuchoid habitus, Macroorchidism, postpubertal, Hypergonadotropic hypogonadism, Enlarged polycys... ORPHA:91
Amyloidosis, Familial Visceral
Hepatomegaly, Proteinuria, Skin rash, Splenomegaly, Cholestasis, Hematuria, Nephrotic syndrome, N... OMIM:105200
Prader-Willi Syndrome Due To Imprinting Mutation
Hypopigmentation of hair, Polyphagia, Obesity, Hypogonadotropic hypogonadism ORPHA:177910
Immunodeficiency 56
Recurrent respiratory infections, Failure to thrive, Cholangitis, Recurrent pneumonia, Bronchiect... OMIM:615207
2Q23.1 Microdeletion Syndrome
Hyperactivity, Hypoplasia of penis, Highly arched eyebrow, Abnormal repetitive mannerisms, Synoph... ORPHA:228402
Trisomy 18P
Highly arched eyebrow, Bilateral cryptorchidism, High, narrow palate, Pyloric stenosis, Attention... ORPHA:1715
Ogden Syndrome
Apnea, Maternal diabetes, Cardiomegaly, Microvesicular hepatic steatosis, Iron deficiency anemia,... OMIM:300855
Congenital Multicore Myopathy With External Ophthalmoplegia
Recurrent respiratory infections, Pneumonia, Increased connective tissue, Cryptorchidism, Flexion... ORPHA:98905
Schnitzler Syndrome
Hepatomegaly, Skin rash, Splenomegaly, Leukocytosis, Lymphadenopathy, Arthritis, Anemia ORPHA:37748
Autoimmune Lymphoproliferative Syndrome, Type Iia
Gastrointestinal hemorrhage, Hepatomegaly, Autoimmune hemolytic anemia, Chronic noninfectious lym... OMIM:603909
Stromme Syndrome
Accessory spleen, Jejunal atresia, Intestinal malrotation, Hydrocephalus, Bilateral renal hypopla... OMIM:243605
Autoimmune Polyendocrinopathy Type 3
Atrophic gastritis, Autoimmune hypoparathyroidism, Xerostomia, Leukopenia, Tubulointerstitial nep... ORPHA:227982
Idiopathic Hypereosinophilic Syndrome
Respiratory distress, Generalized lymphadenopathy, Cholangitis, Pulmonary embolism, Colitis, Coug... ORPHA:3260
Diarrhea 10, Protein-Losing Enteropathy Type
Hyponatremia, Hypertriglyceridemia, Polyuria, Cryptorchidism, Recurrent upper respiratory tract i... OMIM:618183
Bronchiolitis Obliterans With Obstructive Pulmonary Disease
Pneumonia, Reduced forced expiratory volume in one second, Respiratory tract infection, Dyspnea, ... ORPHA:1303
Chronic Visceral Acid Sphingomyelinase Deficiency
Decreased HDL cholesterol concentration, Hepatomegaly, Autoimmune thrombocytopenia, Increased LDL... ORPHA:77293
Pericardial And Diaphragmatic Defect
Neonatal respiratory distress, Intestinal malrotation, Congenital diaphragmatic hernia, Hypoxemia... ORPHA:2847
Drug Reaction With Eosinophilia And Systemic Symptoms
Acute hepatic failure, Elevated hepatic transaminase, Renal insufficiency, Skin rash, Eosinophili... ORPHA:139402
Short Fifth Metacarpals-Insulin Resistance Syndrome
Splenomegaly, Spherocytosis, Hyperinsulinemia ORPHA:66518
Visceral Myopathy 2
Intestinal obstruction, Necrotizing enterocolitis, Intestinal pseudo-obstruction, Intestinal malr... OMIM:619350
Sitosterolemia 2
Elevated circulating sitosterol concentration, Hypercholesterolemia OMIM:618666
Waldenström Macroglobulinemia
Normocytic anemia, Hepatomegaly, Renal insufficiency, Gastrointestinal hemorrhage, Epistaxis, Abn... ORPHA:33226
Cystic Fibrosis
Sinusitis, Reduced forced expiratory volume in one second, Rectal prolapse, Abnormality of the li... ORPHA:586
Hemophagocytic Lymphohistiocytosis, Familial, 2
Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Hyponatremia, Hypertriglyceridemia, Sk... OMIM:603553
Lactase Deficiency, Congenital
Lactose intolerance, Decreased small intestinal mucosa lactase level OMIM:223000
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal
Hepatomegaly, Brittle hair, Sparse eyebrow, Hydrocele testis, Hypocholesterolemia, Micropenis OMIM:618810
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7
Small for gestational age, Hypospadias, Decreased response to growth hormone stimulation test, Pr... ORPHA:96182
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2
Pneumonia, Recurrent upper respiratory tract infections, High palate, B lymphocytopenia, Chronic ... OMIM:614069
Infection-Related Hemolytic Uremic Syndrome
Anuria, Intestinal perforation, Gastrointestinal infarctions, Hypocalcemia, Nephrotic range prote... ORPHA:544482
American Trypanosomiasis
Hepatomegaly, Aganglionic megacolon, Skin rash, Splenomegaly, Dyspnea, Myocarditis, Lymphadenopat... ORPHA:3386
Congenital Short Bowel Syndrome
Abnormal peristalsis, Intestinal malrotation, Decreased intestinal transit time, Steatorrhea, Con... OMIM:615237
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis
Hepatomegaly, Limb joint contracture, Seborrheic dermatitis, Splenomegaly, Micronodular cirrhosis... OMIM:301072
Congenital Macroglossia
Macroglossia, Hypothyroidism, Abnormal hepatic glycogen storage ORPHA:2430
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Hyperactivity, Hypopigmentation of hair, Obesity, Inappropriate laughter, Polyphagia ORPHA:411515
Dyrk1A-Related Intellectual Disability Syndrome
Hyperactivity, Multiple joint contractures, Small for gestational age, Hypospadias, Unilateral re... ORPHA:464306
Bardet-Biedl Syndrome 22
Hypogonadism, Polyphagia, Obesity, Large for gestational age OMIM:617119
X-Linked Centronuclear Myopathy
Respiratory distress, Recurrent respiratory infections, Respiratory failure requiring assisted ve... ORPHA:596
7Q11.23 Microduplication Syndrome
Congenital diaphragmatic hernia, High palate, Chronic otitis media, Abnormal repetitive mannerism... ORPHA:96121
Bile Acid Synthesis Defect, Congenital, 5
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Iron de... OMIM:616278
Xanthomatosis, Susceptibility To
Hypercholesterolemia OMIM:602247
Plasminogen Deficiency, Type I
Duodenal ulcer, Hydrocephalus, Recurrent upper respiratory tract infections, Decreased level of p... OMIM:217090
Autoinflammation With Pulmonary And Cutaneous Vasculitis
Hepatomegaly, Splenomegaly, Recurrent upper respiratory tract infections, Restrictive ventilatory... OMIM:620296
Pancreatic Colipase Deficiency
Megaloblastic anemia, Steatorrhea, Cholelithiasis, Fat malabsorption, Exocrine pancreatic insuffi... ORPHA:309108
Immunodeficiency 42
Hepatomegaly, Splenomegaly, Recurrent cutaneous fungal infections, Hypoplasia of the thymus, Recu... OMIM:616622
Indolent Systemic Mastocytosis
Hepatomegaly, Maculopapular exanthema, Skin rash, Splenomegaly, Lymphadenopathy, Increased propor... ORPHA:98848
Mucopolysaccharidosis, Type Vii
Hepatomegaly, Thick eyebrow, Heparan sulfate excretion in urine, Splenomegaly, Hydrocephalus, Fle... OMIM:253220
Familial Cold Autoinflammatory Syndrome 2
Skin rash, Elevated circulating C-reactive protein concentration, Erythema nodosum, Splenomegaly,... OMIM:611762
X-Linked Cerebral-Cerebellar-Coloboma Syndrome
Dandy-Walker malformation, Episodic tachypnea, Hydrocephalus, Apneic episodes in infancy, Dysphag... ORPHA:163961
Sepsis In Premature Infants
Hepatomegaly, Small for gestational age, Abnormal mucociliary clearance, Elevated circulating C-r... ORPHA:90051
Vascular Hyalinosis
Malabsorption, Hematochezia, Premature graying of hair, Protein-losing enteropathy, Chorioretinal... OMIM:277175
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis
Respiratory distress, Hepatomegaly, Neutrophilia, Failure to thrive in infancy, Abscess, Elevated... OMIM:612852
Cornelia De Lange Syndrome 1
Congenital diaphragmatic hernia, Ectopic kidney, High, narrow palate, Synophrys, Renal cyst, High... OMIM:122470
Apc-Related Attenuated Familial Adenomatous Polyposis
Neoplasm of the pancreas, Duodenal polyposis, Adrenocortical carcinoma, Adenomatous colonic polyp... ORPHA:247806
Juvenile Polyposis Of Infancy
Refractory anemia, Gastrointestinal hemorrhage, Subcutaneous lipoma, Cachexia, High, narrow palat... ORPHA:79076
Agammaglobulinemia 8B, Autosomal Recessive
Pancytopenia, Splenomegaly, Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, B Acu... OMIM:619824
Liver Failure, Infantile, Transient
Acute hepatic failure, Elevated hepatic transaminase, Hepatomegaly, 3-hydroxydicarboxylic aciduri... OMIM:613070
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy
Hepatomegaly, Hyperphosphaturia, Proteinuria, Respiratory insufficiency due to muscle weakness, R... ORPHA:436271
Gracile Syndrome
Increased circulating ferritin concentration, Cholestasis, Renal Fanconi syndrome, Cirrhosis, Ele... ORPHA:53693
Cryoglobulinemic Vasculitis
Gastrointestinal hemorrhage, Viral hepatitis, Hepatomegaly, Renal insufficiency, Proteinuria, Spl... ORPHA:91138
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5
Pneumonia, Elevated circulating creatine kinase concentration, Flexion contracture, Restrictive v... OMIM:253700
Bile Acid Malabsorption, Primary, 1
Increased fecal bile acid, Fat malabsorption, Failure to thrive, Steatorrhea OMIM:613291
Congenital Tracheal Stenosis
Respiratory distress, Meckel diverticulum, Fetal ascites, Abnormal stomach morphology, Neonatal a... ORPHA:141127
Hypotonia-Cystinuria Syndrome
Failure to thrive, Polyphagia, Nephrolithiasis, Cystinuria ORPHA:163690
Farber Lipogranulomatosis
Hepatomegaly, Splenomegaly, Respiratory insufficiency, Arthritis, Lipogranulomatosis, Failure to ... OMIM:228000
Pancreatic Lipase Deficiency
Fat malabsorption, Hypocholesterolemia, Steatorrhea OMIM:614338
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of
Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Hyperglycinuria, Medium chain dicarbox... OMIM:201450
Mast Cell Sarcoma
Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Weight loss, Mastocytosis ORPHA:66661
Leukocyte Adhesion Deficiency
Sinusitis, Severe periodontitis, Conjunctivitis, Otitis media, Vaginitis, Polycythemia, Perianal ... ORPHA:2968
Chops Syndrome
Curly hair, Thick eyebrow, Thick hair, Tracheomalacia, Splenomegaly, High, narrow palate, Synophr... OMIM:616368
Bdv Syndrome
Decreased thyroid-stimulating hormone level, Decreased serum testosterone concentration, Hypogona... OMIM:619326
Combined Oxidative Phosphorylation Deficiency 51
Neonatal respiratory distress, Respiratory failure, Small for gestational age, Aspiration pneumonia OMIM:619057
Gm1 Gangliosidosis Type 1
Hepatosplenomegaly, Macroglossia, Urinary glycosaminoglycan excretion, Abnormal odontoid tissue m... ORPHA:79255
6Q16 Microdeletion Syndrome
Thick eyebrow, Polyphagia, Obesity, Abnormal temper tantrums ORPHA:171829
Immunodeficiency With Hyper-Igm, Type 1
Hemolytic anemia, Hepatomegaly, Chronic oral candidiasis, Absence of lymph node germinal center, ... OMIM:308230
Hyperlipoproteinemia, Type Id
Hyperlipoproteinemia, Hepatomegaly, Decreased HDL cholesterol concentration, Hypertriglyceridemia... OMIM:615947
Mosaic Variegated Aneuploidy Syndrome
Intestinal polyposis, Multicystic kidney dysplasia, Apnea, Abnormal lung lobation, Cleft palate, ... ORPHA:1052
Combined Oxidative Phosphorylation Deficiency 11
Hepatomegaly, Renal insufficiency, Renal hypoplasia, Renal cyst, Renal tubular acidosis, Respirat... OMIM:614922
3-Methylcrotonyl-Coa Carboxylase 1 Deficiency
Acute hyperammonemia, Ketonuria, Hypoglycemia, Apnea, Acute hepatic steatosis, Elevated urinary 3... OMIM:210200
Autoinflammation With Episodic Fever And Lymphadenopathy
Hepatomegaly, Microcytic anemia, Splenomegaly, Recurrent tonsillitis, Lymphadenopathy OMIM:618852
Mosaic Variegated Aneuploidy Syndrome 2
Small for gestational age, Decreased response to growth hormone stimulation test, Abnormal lung l... OMIM:614114
Meconium Aspiration Syndrome
Respiratory distress, Maternal diabetes, Atelectasis, Neonatal asphyxia, Pneumothorax, Wheezing, ... ORPHA:70588
Hermansky-Pudlak Syndrome 2
Hepatomegaly, Absent platelet dense granules, Chronic oral candidiasis, Fair hair, Albinism, Sple... OMIM:608233
Neutral Lipid Storage Myopathy
Elevated hepatic transaminase, Hepatomegaly, Very long chain fatty acid accumulation, Hypertrigly... ORPHA:98908
Coach Syndrome 1
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Unilateral renal agenesis, Sple... OMIM:216360
Silver-Russell Syndrome
Hypospadias, Failure to thrive in infancy, Cachexia, Precocious puberty, Cryptorchidism, Insulin ... ORPHA:813
Hurler Syndrome
Hepatomegaly, Recurrent respiratory infections, Camptodactyly of finger, Abnormality of the tonsi... ORPHA:93473
Bangstad Syndrome
Abnormality of the parathyroid gland, Hyperinsulinemia, Polycystic ovaries, Increased circulating... ORPHA:1227
Familial Adenomatous Polyposis 1
Duodenal polyposis, Adrenocortical carcinoma, Adenomatous colonic polyposis, Multiple gastric pol... OMIM:175100
Familial Pancreatic Carcinoma
Elevated hepatic transaminase, Pancreatic adenocarcinoma, Diabetes mellitus, Intestinal pseudo-ob... ORPHA:1333
Erythroleukemia, Familial, Susceptibility To
Acute myeloid leukemia, Hepatomegaly, Splenomegaly, Anemia, Erythroid hyperplasia, Leukemia, Thro... OMIM:133180
Short Stature, Dauber-Argente Type
Fasting hyperinsulinemia, Increased insulin like growth factor binding protein acid labile subuni... OMIM:619489
Immunodeficiency 77
Chronic pulmonary obstruction, Recurrent tonsillitis, Bronchiectasis, Cellulitis, Cutaneous abscess OMIM:619223
Adult Acute Respiratory Distress Syndrome
Pneumonia, Dyspnea, Hypoxemia, Diabetic ketoacidosis, Respiratory failure, Abnormal blood gas lev... ORPHA:70578
Beta-Thalassemia
Hepatomegaly, Hypogonadotropic hypogonadism, Abnormal hemoglobin, Microcytic anemia, Splenomegaly... ORPHA:848
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
Impaired lymphocyte transformation with phytohemagglutinin, Absent natural killer cells, Failure ... OMIM:600802
Mitochondrial Trifunctional Protein Deficiency
Hypoparathyroidism, Failure to thrive in infancy, Cholestasis, Respiratory insufficiency, Respira... ORPHA:746
Mitochondrial Complex Iv Deficiency, Nuclear Type 3
Increased serum pyruvate, Macrocytic anemia, Splenomegaly, Hyperprolinemia, Agitation, Hyperalani... OMIM:619046
Trisomy 8P
Peripheral pulmonary artery stenosis, Multiple joint contractures, Cryptorchidism, Hydrocephalus,... ORPHA:264450
Hennekam Lymphangiectasia-Lymphedema Syndrome 3
Hydrocele testis, Synophrys, Spontaneous pneumothorax, Protein-losing enteropathy OMIM:618154
Angelman Syndrome
Abnormality of the gastrointestinal tract, Hyperactivity, Fair hair, Precocious puberty in female... ORPHA:72
Relapsing Polychondritis
Uveitis, Anteriorly placed anus, Conjunctivitis, Cough, Chondritis, Alopecia, Atelectasis, Hepati... ORPHA:728
Mucopolysaccharidosis Type 7
Recurrent respiratory infections, Inguinal hernia, Abnormal pleura morphology, Splenomegaly, Hepa... ORPHA:584
Familial Mediterranean Fever
Hepatomegaly, Pericarditis, Neutrophilia, Elevated circulating C-reactive protein concentration, ... OMIM:249100
Adams-Oliver Syndrome 6
Portal hypertension, Splenomegaly, Esophageal varix, Renal hypoplasia, Hepatic fibrosis OMIM:616589
Fucosidosis
Hepatomegaly, Recurrent respiratory infections, Cardiomegaly, Splenomegaly, Flexion contracture, ... OMIM:230000
Subcutaneous Panniculitis-Like T-Cell Lymphoma
Weight loss, Panniculitis, Hemophagocytosis, Hepatosplenomegaly ORPHA:86884
Immunodeficiency, Common Variable, 12, With Autoimmunity
Recurrent sinopulmonary infections, Autoimmune hemolytic anemia, Atrophic gastritis, Recurrent sk... OMIM:616576
Acth-Independent Macronodular Adrenal Hyperplasia 2
Increased urinary cortisol level, Decreased circulating ACTH concentration, Increased body weight... OMIM:615954
Familial Mediterranean Fever
Acute hepatic failure, Osteoarthritis, Nephrocalcinosis, Gastrointestinal infarctions, Nephropath... ORPHA:342
Kagami-Ogata Syndrome
Omphalocele, Hepatomegaly, Inguinal hernia, Splenomegaly, Flexion contracture, Pulmonary hypoplas... OMIM:608149
Tay-Sachs Disease
Increased serum beta-hexosaminidase, Abnormality of glycolipid metabolism, Precocious puberty, GM... ORPHA:845
Combined Oxidative Phosphorylation Deficiency 37
Elevated hepatic transaminase, Hypoglycemia, Respiratory insufficiency, Respiratory failure, 3-Me... OMIM:618329
Estrogen Resistance Syndrome
Acne, Abnormality of the pubic hair, Enlarged polycystic ovaries, Increased circulating gonadotro... ORPHA:785
Dopamine Beta-Hydroxylase Deficiency
Hypoglycemia, Dyspnea, Insulin resistance, Elevated urinary dopamine level, Elevated circulating ... ORPHA:230
Pick Disease Of Brain
Abnormal repetitive mannerisms, Polyphagia, Inappropriate laughter, Disinhibition OMIM:172700
Lysinuric Protein Intolerance
Leukopenia, Aminoaciduria, Sparse hair, Hepatomegaly, Respiratory insufficiency, Anemia, Stage 5 ... OMIM:222700
Mitochondrial Complex Iv Deficiency, Nuclear Type 5
Inguinal hernia, Ketonuria, Small for gestational age, Hypospadias, Hypoglycemia, Highly arched e... OMIM:220111
Biliary, Renal, Neurologic, And Skeletal Syndrome
Anterior pituitary hypoplasia, Aqueductal stenosis, Conjugated hyperbilirubinemia, Hepatic fibros... OMIM:619534
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked
Intestinal pseudo-obstruction, Intestinal malrotation, Increased mean platelet volume, Pyloric st... OMIM:300048
Microcephaly, Congenital Cataract, And Psoriasiform Dermatitis
Decreased HDL cholesterol concentration, Psoriasiform dermatitis, Decreased LDL cholesterol conce... OMIM:616834
Immunodeficiency 57 With Autoinflammation
Recurrent respiratory infections, Failure to thrive, Gastritis, Skin rash, Perianal abscess, Bron... OMIM:618108
Timothy Syndrome
Hypoglycemia, Pneumonia, Bronchitis, Cardiomegaly, Hypocalcemia, Pulmonary arterial hypertension,... OMIM:601005
Pgm3-Cdg
Abnormal CD4:CD8 ratio, Leukopenia, T lymphocytopenia, High palate, Gastroesophageal reflux, Neut... ORPHA:443811
Obesity, Hyperphagia, And Developmental Delay
Abnormal repetitive mannerisms, Polyphagia, Obesity OMIM:613886
Gaucher Disease
Elevated circulating C-reactive protein concentration, Osteoarthritis, Hepatomegaly, Hepatitis, R... ORPHA:355
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Flexion contracture of finger, Small for gestational age, Hypospadias, Ankle flexion contracture,... ORPHA:464311
Combined Oxidative Phosphorylation Deficiency 12
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating... OMIM:614924
Tangier Disease
Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ... OMIM:205400
Aicardi-Goutieres Syndrome 1
Elevated hepatic transaminase, Hepatomegaly, Diabetes insipidus, Chilblains, Splenomegaly, Multip... OMIM:225750
Trichohepatoneurodevelopmental Syndrome
Synophrys, Coarse hair, High palate, Gastroesophageal reflux, Thoracic hypertrichosis, Hypothyroi... OMIM:618268
Morgagni-Stewart-Morel Syndrome
Diabetes mellitus, Acne, Abnormality of the endocrine system, Abnormality of the thyroid gland, O... ORPHA:77296
Acquired Idiopathic Sideroblastic Anemia
Normocytic anemia, Hepatomegaly, Acute myeloid leukemia, Pancytopenia, Thrombocytosis, Anemia of ... ORPHA:75564
Ossification Anomalies-Psychomotor Developmental Delay Syndrome
Elevated hepatic transaminase, Hepatomegaly, Hepatic hemangioma, Gastroesophageal reflux, Dysphag... ORPHA:73230
Hyperlipoproteinemia, Type Ii, And Deafness
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia OMIM:144300
Congenital Disorder Of Glycosylation, Type Iie
Hepatomegaly, Neurogenic bladder, Hypoglycemia, Elevated circulating aspartate aminotransferase c... OMIM:608779
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2
Hip contracture, Hepatomegaly, Large for gestational age, Seborrheic dermatitis, Microvesicular h... OMIM:300868
Hennekam Syndrome
Recurrent respiratory infections, Camptodactyly of finger, Sparse axillary hair, Ectopic kidney, ... ORPHA:2136
Tyrosinemia, Type I
Acute hepatic failure, Nephrocalcinosis, Paralytic ileus, Renal Fanconi syndrome, Hypophosphatemi... OMIM:276700
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency
Adrenal hyperplasia, Hypospadias, Hypoglycemia, Renal salt wasting, Adrenogenital syndrome OMIM:201910
Bardet-Biedl Syndrome 9
Renal insufficiency, Obesity, Truncal obesity, Hyperglycemia, Polydipsia, Polyphagia OMIM:615986
Bile Acid Malabsorption, Primary, 2
Elevated circulating aspartate aminotransferase concentration, Elevated circulating alanine amino... OMIM:619481
Laron Syndrome
Hypoplasia of penis, Hypoglycemia, Abnormality of the endocrine system, Osteoarthritis, Truncal o... ORPHA:633
Neonatal Lupus Erythematosus
Elevated hepatic transaminase, Hemolytic anemia, Hepatomegaly, Pancytopenia, Aplastic anemia, Mac... ORPHA:398124
Transaldolase Deficiency
Hepatomegaly, Pancytopenia, Small for gestational age, Splenomegaly, Micronodular cirrhosis, Thro... OMIM:606003
Cinca Syndrome
Hepatomegaly, Abnormality of neutrophils, Elevated circulating C-reactive protein concentration, ... ORPHA:1451
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency
Multiple joint contractures, Hypospadias, Camptodactyly of finger, Ankle flexion contracture, Uni... ORPHA:468631
Man1B1-Cdg
Long eyebrows, Sparse eyebrow, Abnormal position of hair whorl, Truncal obesity, Long eyelashes, ... ORPHA:397941
3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Fulminant hepatic failure, Dicarboxylic aciduria, Hepatic necrosis, Hypoglycemic seizures, Myoglo... OMIM:231530
Immunodeficiency 98 With Autoinflammation, X-Linked
Hepatomegaly, Autoimmune hemolytic anemia, Chronic oral candidiasis, Splenomegaly, Lymphadenopath... OMIM:301078
Beta-Thalassemia, Dominant Inclusion Body Type
Increased HbA2 hemoglobin, Hepatomegaly, Decreased mean corpuscular hemoglobin concentration, Ery... OMIM:603902
Chanarin-Dorfman Syndrome
Hepatomegaly, Alopecia, Hepatic steatosis OMIM:275630
Sclerosing Cholangitis, Neonatal
Hepatomegaly, Portal hypertension, Hepatic bridging fibrosis, Splenomegaly, Jaundice, Biliary cir... OMIM:617394
Senior-Boichis Syndrome
Hepatic fibrosis, Malformation of the hepatic ductal plate, Portal hypertension, Congenital hepat... ORPHA:84081
Macrocephaly/Autism Syndrome
Hepatomegaly, Penile freckling, Large for gestational age, Splenomegaly, Obesity, Hydrocele testi... OMIM:605309
Cholesterol-Ester Transfer Protein Deficiency
Hyperlipidemia, Increased HDL cholesterol concentration, Hypercholesterolemia, Hypotriglyceridemi... ORPHA:79506
Helsmoortel-Van Der Aa Syndrome
Decreased response to growth hormone stimulation test, High, narrow palate, Enuresis nocturna, Pi... OMIM:615873
Trichothiodystrophy 3, Photosensitive
Lymphopenia, Failure to thrive, Brittle hair, Bilateral cryptorchidism, Pyloric stenosis, Abdomin... OMIM:616395
X-Linked Alport Syndrome-Diffuse Leiomyomatosis
Gastroesophageal reflux, Aspiration pneumonia, Cough, Nephropathy, Achalasia, Tracheobronchial le... ORPHA:1018
Dilated Cardiomyopathy With Ataxia
Elevated hepatic transaminase, Hypoplasia of penis, Bilateral cryptorchidism, Microvesicular hepa... ORPHA:66634
Leukocyte Adhesion Deficiency, Type Iii
Hepatomegaly, Extramedullary hematopoiesis, Recurrent skin infections, Epistaxis, Splenomegaly, L... OMIM:612840
Primary Myelofibrosis
Hepatomegaly, Pancytopenia, Extramedullary hematopoiesis, Portal hypertension, Cachexia, Anorexia... ORPHA:824
Spondyloenchondrodysplasia
Abnormal lateral ventricle morphology, Pancytopenia, Autoimmune hemolytic anemia, Pneumonia, Prot... ORPHA:1855
Coffin-Siris Syndrome
Sparse scalp hair, Hyperactivity, Thick eyebrow, Hypospadias, Aggressive behavior, Cryptorchidism... ORPHA:1465
Kleine-Levin Syndrome
Abnormal eating behavior, Repetitive compulsive behavior, Sweet craving, Hypersexuality, Agitatio... ORPHA:33543
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis
Hepatomegaly, Alopecia, Sparse eyelashes, Thick hair, Portal hypertension, Sparse eyebrow, Spleno... OMIM:607626
Roifman-Chitayat Syndrome
Pneumonia, Ectopic kidney, Arthritis, Umbilical hernia, Ventriculomegaly OMIM:613328
Dubowitz Syndrome
Sparse scalp hair, Inguinal hernia, Hyperactivity, Aplastic anemia, Hypospadias, Eczema, Cryptorc... OMIM:223370
Primary Unilateral Adrenal Hyperplasia
Adrenal hyperplasia, Epistaxis, Increased urinary potassium, Glucocortocoid-insensitive primary h... ORPHA:231580
Postinfectious Vasculitis
Abnormal circulating protein concentration, Viral hepatitis, Inflammatory abnormality of the skin... ORPHA:48435
Histiocytosis-Lymphadenopathy Plus Syndrome
Decreased response to growth hormone stimulation test, Cardiomegaly, Joint contracture of the 5th... OMIM:602782
Mosaic Variegated Aneuploidy Syndrome 1
Multicystic kidney dysplasia, Small for gestational age, Hypospadias, Cryptorchidism, Hydrocephal... OMIM:257300
Hajdu-Cheney Syndrome
Hepatomegaly, Inguinal hernia, Recurrent respiratory infections, Hypospadias, Intestinal malrotat... ORPHA:955
Listeriosis
Respiratory distress, Liver abscess, Abnormal cellular immune system morphology, Granulomatosis, ... ORPHA:533
Pneumocystosis
Multiple pulmonary cysts, Respiratory failure requiring assisted ventilation, Abnormal neutrophil... ORPHA:723
Poikiloderma With Neutropenia
Skin rash, Elevated circulating creatine kinase concentration, Sparse eyebrow, Splenomegaly, Recu... OMIM:604173
Porphyria, Congenital Erythropoietic
Hemolytic anemia, Hepatomegaly, Alopecia, Absent eyebrow, Splenomegaly, Jaundice, Loss of eyelash... OMIM:263700
Glycogen Storage Disease Ii
Recurrent respiratory infections, Hepatomegaly, Increased circulating NT-proBNP concentration, Ur... OMIM:232300
Familial Nasal Acilia
Respiratory distress, Atelectasis, Dyspnea, Recurrent upper respiratory tract infections, Bronchi... ORPHA:922
Chédiak-Higashi Syndrome
Large clumps of pigment irregularly distributed along hair shaft, Vacuolated lymphocytes, Periodo... ORPHA:167
Marbach-Rustad Progeroid Syndrome
Reduced subcutaneous adipose tissue, Insulin resistance OMIM:619322
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum
Respiratory distress, Anorexia, Oral-pharyngeal dysphagia, Intestinal perforation, Xerostomia, Ga... ORPHA:95455
Autoimmune Lymphoproliferative Syndrome
Hepatomegaly, Autoimmune hemolytic anemia, Chronic noninfectious lymphadenopathy, Eosinophilia, F... OMIM:601859
Dyskeratosis Congenita, Autosomal Dominant 1
Alopecia, Aplastic anemia, Thrombocytopenia, Dyspnea, Hepatic necrosis, Premature graying of hair... OMIM:127550
Luscan-Lumish Syndrome
Aggressive behavior, Hirsutism, Obesity, Polycystic ovaries, Recurrent otitis media, High anterio... OMIM:616831
Meckel Syndrome, Type 1
Adrenal hypoplasia, Asplenia, Lobulated tongue, Dandy-Walker malformation, Accessory spleen, Malf... OMIM:249000
Hyperparathyroidism, Neonatal Severe
Calcinosis, Hepatomegaly, Hyperphosphaturia, Polyuria, Hypercalcemia, Splenomegaly, Dyspnea, Prim... OMIM:239200
Pseudohypoparathyroidism Type 1C
Calcinosis, Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation test... ORPHA:79444
Behçet Disease
Myositis, Anorexia, Pulmonary embolism, Infectious encephalitis, Acne, Retrobulbar optic neuritis... ORPHA:117
Intellectual Developmental Disorder, Autosomal Dominant 1
Highly arched eyebrow, Aggressive behavior, Low posterior hairline, Self-injurious behavior, Macr... OMIM:156200
Igg4-Related Kidney Disease
Elevated circulating C-reactive protein concentration, Lymphadenitis, Abnormal lung morphology, D... ORPHA:449395
Wiedemann-Rautenstrauch Syndrome
Decreased response to growth hormone stimulation test, Synophrys, Wide penis, Vesicoureteral refl... ORPHA:3455
Hypoinsulinemic Hypoglycemia With Hemihypertrophy
Hypoglycemia, Large for gestational age, Obesity, Truncal obesity, Fasting hypoglycemia, Hypoinsu... OMIM:240900
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Reticulocytosis, Anisocytosis, Abnormal erythrocyte morphology, Splenomegaly, Reduced red cell py... ORPHA:766
Anemia, Hypochromic Microcytic, With Iron Overload 2
Hepatomegaly, Splenomegaly, Increased circulating ferritin concentration, Elevated transferrin sa... OMIM:615234
Tenorio Syndrome
Thick eyebrow, Hypoglycemia, Apnea, Hydrocephalus, Recurrent pneumonia, Enuresis, Macroglossia, K... OMIM:616260
Fructose Intolerance, Hereditary
Elevated hepatic transaminase, Hepatomegaly, Transient aminoaciduria, Hyperphosphaturia, Gastroin... OMIM:229600
Red Cell Phospholipid Defect With Hemolysis
Splenomegaly, Intermittent jaundice, Hyperbilirubinemia, Reticulocytosis OMIM:179700
Hyperaldosteronism, Familial, Type Iii
Adrenal hyperplasia, Polyuria, Hypercalciuria, Hypokalemia, Hyperaldosteronism, Polydipsia, Decre... OMIM:613677
Hereditary Pulmonary Alveolar Proteinosis
Abnormal circulating protein concentration, Respiratory distress, Respiratory failure requiring a... ORPHA:264675
Peroxisome Biogenesis Disorder 5A (Zellweger)
Conjugated hyperbilirubinemia, Renal cyst, High palate, Intrahepatic biliary dysgenesis, Hepatome... OMIM:614866
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome
Decreased circulating cortisol level, Severe B lymphocytopenia, Decreased response to growth horm... ORPHA:293978
Good Syndrome
Abnormal leukocyte morphology, Recurrent respiratory infections, Diabetes mellitus, Sinusitis, Re... ORPHA:169105
Frontotemporal Dementia
Polyphagia, Disinhibition, Inappropriate laughter OMIM:600274
Sea-Blue Histiocytosis
Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Sea-blue histiocytosis, Blepharitis, Thr... ORPHA:158029
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Spontaneous, recurrent epistaxis, Pancytopenia, Cachexia, Splenomegaly, Abnormality of the spleen... ORPHA:2072
Autoinflammatory Syndrome, Familial, Behcet-Like 1
Hemolytic anemia, Anterior uveitis, Skin rash, Colitis, Ileal ulcer, Lymphopenia, Thrombocytopenia OMIM:616744
Waardenburg Syndrome Type 3
Camptodactyly of finger, Atelectasis, White hair, Tracheomalacia, Thick eyebrow ORPHA:896
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18
Elevated hepatic transaminase, Hepatomegaly, Elevated circulating creatine kinase concentration, ... OMIM:615356
Apolipoprotein C-Ii Deficiency
Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Increased circulating chylomicron concentration... OMIM:207750
Umbilical Cord Ulceration-Intestinal Atresia Syndrome
Duodenal atresia, Anemia, Intestinal atresia ORPHA:3405
Hemorrhagic Fever-Renal Syndrome
Respiratory distress, Anuria, Acute tubulointerstitial nephritis, Tubulointerstitial nephritis, C... ORPHA:340
Ciliary Dyskinesia, Primary, 35
Neonatal respiratory distress, Nasal polyposis, Productive cough, Recurrent pneumonia, Bronchiect... OMIM:617092
Familial Renal Glucosuria
Elevated hemoglobin A1c, Insulin resistance, Abnormal circulating insulin concentration, Renal tu... ORPHA:69076
Severe Generalized Junctional Epidermolysis Bullosa
Urethral stricture, Respiratory distress, Abnormal blood ion concentration, Renal cyst, Gastroint... ORPHA:79404
Hyperaldosteronism, Familial, Type I
Hyperaldosteronism, Adrenal hyperplasia, Adrenogenital syndrome, Decreased circulating renin level OMIM:103900
Gm1-Gangliosidosis, Type Ii
Hepatomegaly, Protruding tongue, Splenomegaly, Sea-blue histiocytosis, Dysphagia, Failure to thri... OMIM:230600
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia
Skin rash, Elevated circulating C-reactive protein concentration, Cervical lymphadenopathy, Recur... OMIM:617718
Heterotaxy, Visceral, 5, Autosomal
Bilateral trilobed lung, Ureteral duplication, Ureteral stenosis, Intestinal malrotation, Aspleni... OMIM:270100
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
High, narrow palate, Synophrys, Tics, High palate, Compulsive behaviors, Otitis media, Micropenis... OMIM:619475
Lymphatic Malformation 6
Splenomegaly, Hydrocele testis, Pleural effusion, Gastroesophageal reflux, Chylothorax, Celluliti... OMIM:616843
Cryptococcosis
Respiratory distress, Lymphoid leukemia, Osteomyelitis, Pneumonia, Nodular pattern on pulmonary H... ORPHA:1546
Alpha-Mannosidosis, Infantile Form
Communicating hydrocephalus, Pancytopenia, Pneumonia, Highly arched eyebrow, Hepatosplenomegaly, ... ORPHA:309282
Hypercholanemia, Familial 1
Fat malabsorption, Failure to thrive, Increased serum bile acid concentration, Steatorrhea OMIM:607748
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Elevated hepatic transaminase, Hypertyrosinemia, Failure to thrive, Respiratory distress, Hypogly... OMIM:617156
Juvenile Neuronal Ceroid Lipofuscinosis
Apnea, Episodic tachypnea, Aspiration pneumonia, Dysphagia, Abnormal repetitive mannerisms ORPHA:79264
Systemic Mastocytosis With Associated Hematologic Neoplasm
Normocytic anemia, Hepatomegaly, Acute myeloid leukemia, Neutrophilia, Eosinophilia, Peptic ulcer... ORPHA:98849
Gaucher Disease, Type I
Hepatomegaly, Pancytopenia, Epistaxis, Hypersplenism, Splenomegaly, Dyspnea, Abnormal pulmonary i... OMIM:230800
Wiedemann-Rautenstrauch Syndrome
Flexion contracture, Hypoplasia of the thymus, Dandy-Walker malformation, Absent eyebrow, Alopeci... OMIM:264090
Feingold Syndrome 1
Accessory spleen, Jejunal atresia, Asplenia, Esophageal atresia, Gastrointestinal atresia, Trache... OMIM:164280
Ciliary Dyskinesia, Primary, 42
Nasal polyposis, Pneumonia, Reduced forced vital capacity, Chronic pulmonary obstruction, Bronchi... OMIM:618695
Chronic Graft Versus Host Disease
Fasciitis, Anorexia, Flexion contracture, Xerostomia, Gastroesophageal reflux, Cough, Alopecia, B... ORPHA:99921
Distal Myopathy, Tateyama Type
Hypercholesterolemia, Abnormal circulating creatine kinase concentration ORPHA:488650
Anemia, Congenital Dyserythropoietic, Type Ib
Hepatomegaly, Reticulocytosis, Anisocytosis, Anemia of inadequate production, Splenomegaly, Jaund... OMIM:615631
Pigmented Nodular Adrenocortical Disease, Primary, 3
Increased circulating cortisol level, Adrenal hyperplasia OMIM:614190
Generalized Glucocorticoid Resistance Syndrome
Increased urinary cortisol level, Adrenal hyperplasia, Hypoglycemia, Acne, Frontal balding, Preco... ORPHA:786
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome
Elevated circulating growth hormone concentration, Enlarged polycystic ovaries, Insulin resistanc... ORPHA:90301
Colonic Atresia
Omphalocele, Peptic ulcer, Abnormal mesentery morphology, Duodenal stenosis, Abdominal situs inve... ORPHA:1198
Kaposiform Lymphangiomatosis
Epistaxis, Pancreatic cysts, Splenomegaly, Thrombocytopenia, Abnormality of the lymphatic system,... ORPHA:464329
Autoinflammation With Arthritis And Dyskeratosis
Hepatomegaly, Autoimmune hemolytic anemia, Elevated circulating C-reactive protein concentration,... OMIM:617388
Hennekam-Beemer Syndrome
Pneumonia, Camptodactyly of finger, Respiratory insufficiency, High palate, Mastocytosis, Failure... ORPHA:2135
Riddle Syndrome
Generalized lymphadenopathy, Pneumonia, Bronchitis, Elevated circulating alpha-fetoprotein concen... ORPHA:420741
Immunodeficiency 36 With Lymphoproliferation
Splenomegaly, Recurrent upper respiratory tract infections, Enlarged tonsils, Bronchiectasis, Chr... OMIM:616005
Pulmonary Alveolar Microlithiasis
Calcium nephrolithiasis, Bronchitis, Nonproductive cough, Tachypnea, Increased circulating surfac... ORPHA:60025
Niemann-Pick Disease Type C
Hepatomegaly, Bone-marrow foam cells, Aggressive behavior, Fetal ascites, Splenomegaly, Jaundice,... ORPHA:646
Anemia, Congenital Dyserythropoietic, Type Iv
Decreased hemoglobin concentration, Circulating nucleated red blood cells, Anisocytosis, Erythroi... OMIM:613673
Severe Acute Respiratory Syndrome
Respiratory distress, Respiratory failure requiring assisted ventilation, Diabetes mellitus, Dysp... ORPHA:140896
Atelis Syndrome 2
Dyspnea, Elevated circulating thyroid-stimulating hormone concentration, Hyperinsulinemia, Anemia... OMIM:620185
Mirror Polydactyly-Vertebral Segmentation-Limbs Defects Syndrome
Aplasia of the thymus, Duodenal atresia ORPHA:3004
Pseudohypoparathyroidism Type 1A
Calcinosis, Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation test... ORPHA:79443
Glycogen Storage Disease Ic
Hepatomegaly, Renal insufficiency, Proteinuria, Cyclic neutropenia, Hypoglycemia, Chronic pancrea... OMIM:232240
Sitosterolemia 1
Reticulocytosis, Hyperapobetalipoproteinemia, Splenomegaly, Thrombocytopenia, Giant platelets, El... OMIM:210250
Microform Holoprosencephaly
Hypoplasia of penis, Maternal diabetes, Asthma, Panhypopituitarism, Cleft palate, Hypothyroidism,... ORPHA:280200
Lipoid Congenital Adrenal Hyperplasia
Congenital adrenal hyperplasia, Hypospadias, Adrenogenital syndrome, Renal salt wasting OMIM:201710
Congenital Enterocyte Heparan Sulfate Deficiency
Abnormal circulating protein concentration, Abnormal circulating polysaccharide concentration, We... ORPHA:103910
Hermansky-Pudlak Syndrome 10
Hepatomegaly, Recurrent respiratory infections, Apnea, Albinism, Splenomegaly, Abnormal pulmonary... OMIM:617050
Agammaglobulinemia, X-Linked
Hepatocellular carcinoma, Enteroviral hepatitis, Prostatitis, Recurrent pneumonia, Epididymitis, ... OMIM:300755
Complement Factor B Deficiency
Peritonitis, Pneumonia OMIM:615561
Kaufman Oculocerebrofacial Syndrome
Neonatal respiratory distress, Intestinal malrotation, Sparse eyebrow, High palate, Hypocholester... OMIM:244450
Myotubular Myopathy With Abnormal Genital Development
Respiratory distress, Hypospadias, Unilateral cryptorchidism, Bilateral cryptorchidism, Atelectas... OMIM:300219
Kleine-Levin Hibernation Syndrome
Polyphagia OMIM:148840
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart
Broad eyebrow, Hypospadias, Cryptorchidism, Widow's peak, Renal cyst, Furrowed tongue, High palat... OMIM:616975
Infant Acute Respiratory Distress Syndrome
Pneumonia, Respiratory tract infection, Atelectasis, Nasal flaring, Tachypnea, Hypoxemia, Respira... ORPHA:70587
Inflammatory Bowel Disease (Crohn Disease) 30
Gastritis, Duodenitis, Pancolitis, Protein-losing enteropathy, Abnormal intestine morphology, Ile... OMIM:619079
X-Linked Acrogigantism
Decreased thyroid-stimulating hormone level, Increased body mass index, Enlarged pituitary gland,... ORPHA:300373
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia
Recurrent respiratory infections, Splenomegaly, Leukocytosis, Intraalveolar phospholipid accumula... OMIM:618042
Congenital Alveolar Capillary Dysplasia
Respiratory distress, Absent gallbladder, Aganglionic megacolon, Intestinal malrotation, Asplenia... ORPHA:210122
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects
Unilateral renal agenesis, Esophageal atresia, Submucous cleft hard palate, Tracheoesophageal fis... OMIM:619227
Mitochondrial Complex Iii Deficiency, Nuclear Type 1
Elevated hepatic transaminase, Hypertyrosinemia, Brittle hair, Hypoglycemia, Cholangitis, Microve... OMIM:124000
Tangier Disease
Orange discolored tonsils, Hypertriglyceridemia, Chronic noninfectious lymphadenopathy, Hepatospl... ORPHA:31150
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities
Nail-biting, Eczema, Aggressive behavior, Hair-pulling, Asthma, Recurrent pneumonia, Polyphagia, ... OMIM:620330
Alagille Syndrome 1
Elevated hepatic transaminase, Failure to thrive, Hypertriglyceridemia, Hepatocellular carcinoma,... OMIM:118450
Hyperlipoproteinemia, Type I
Splenomegaly, Jaundice, Hyperlipidemia, Hepatosplenomegaly, Lactescent serum, Increased circulati... OMIM:238600
Weaver Syndrome
Inguinal hernia, Cryptorchidism, Fine hair, Hydrocele testis, Lateral ventricle dilatation, Campt... OMIM:277590
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia
Sinusitis, Decreased response to growth hormone stimulation test, Pneumonia, Enteroviral hepatiti... OMIM:307200
Intellectual Developmental Disorder, Autosomal Dominant 68
Urinary incontinence, High palate, Joint contracture of the 5th finger, Attention deficit hyperac... OMIM:619934
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome
Elevated hepatic transaminase, Hepatomegaly, Abnormal blood inorganic cation concentration, Porta... ORPHA:309854
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement
Decreased testicular size, Restlessness, Aggressive behavior, Cryptorchidism, Cleft palate, Fine ... ORPHA:251028
Charge Syndrome
Decreased response to growth hormone stimulation test, Gonadotropin deficiency, Parathyroid hypop... OMIM:214800
Hemophagocytic Syndrome Associated With An Infection
Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Hypertriglyceridemia, Splenomegaly, Th... ORPHA:158048
Estrogen Resistance
Increased circulating osteocalcin level, Impaired glucose tolerance, Acne, Hyperinsulinemia, Incr... OMIM:615363
Beckwith-Wiedemann Syndrome
Ureteral duplication, Congenital diaphragmatic hernia, Large for gestational age, Cardiomegaly, N... ORPHA:116
Nephronophthisis 19
Hepatomegaly, Malformation of the hepatic ductal plate, Splenomegaly, Stage 5 chronic kidney dise... OMIM:616217
Proximal Spinal Muscular Atrophy
Hypoventilation, Neonatal respiratory distress, Multiple joint contractures, Recurrent infections... ORPHA:70
Glycosylphosphatidylinositol Biosynthesis Defect 1
Portal vein thrombosis, Splenomegaly, Portal hypertension, Hepatomegaly OMIM:610293
Tarp Syndrome
Extramedullary hematopoiesis, Apnea, Abnormal hair pattern, Cryptorchidism, Horseshoe kidney, Cle... ORPHA:2886
Combined Immunodeficiency Due To Partial Rag1 Deficiency
Autoimmune hemolytic anemia, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, ... ORPHA:231154
Acquired Aneurysmal Subarachnoid Hemorrhage
Hypopituitarism, Leukocytosis, Hydrocephalus, Addictive alcohol use, Left ventricular hypertrophy... ORPHA:90065
Desmosterolosis
Intestinal malrotation, Splenomegaly, Hydrocephalus, Submucous cleft hard palate, Anomalous pulmo... ORPHA:35107
Disordered Steroidogenesis Due To Cytochrome P450 Oxidoreductase Deficiency
Congenital adrenal hyperplasia, Increased circulating ACTH level OMIM:613571
Respiratory Distress Syndrome In Premature Infants
Respiratory distress, Neonatal respiratory distress, Atelectasis, Dyspnea, Tachypnea, Pulmonary e... OMIM:267450
Osteopetrosis, Autosomal Recessive 1
Hepatomegaly, Pancytopenia, Osteomyelitis, Splenomegaly, Hydrocephalus, Anemia, Hypocalcemia, Fai... OMIM:259700
Mitochondrial Complex I Deficiency, Nuclear Type 20
Elevated hepatic transaminase, Dicarboxylic aciduria, Hypoglycemia, Microvesicular hepatic steato... OMIM:611126
Combined Oxidative Phosphorylation Deficiency 27
Microvesicular hepatic steatosis, Failure to thrive, Hyperammonemia OMIM:616672
Surfactant Metabolism Dysfunction, Pulmonary, 2
Respiratory distress, Reduced forced vital capacity, Tachypnea, Cough, Decreased DLCO, Bronchiect... OMIM:610913
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency
Impaired lymphocyte transformation with phytohemagglutinin, Recurrent respiratory infections, Abs... ORPHA:35078
Metachromatic Leukodystrophy
Urinary incontinence, Abnormal stomach morphology, Abnormal gallbladder morphology, Hemobilia, Ne... ORPHA:512
Ehlers-Danlos Syndrome, Musculocontractural Type, 1
Recurrent skin infections, Scarring, Intestinal malrotation, Hiatus hernia, Cryptorchidism, Pneum... OMIM:601776
Intellectual Developmental Disorder, Autosomal Dominant 53
Intestinal malrotation, Cryptorchidism, Gastrointestinal dysmotility, Frontal upsweep of hair, Mi... OMIM:617798
Prolidase Deficiency
Recurrent respiratory infections, Hepatomegaly, Splenomegaly, Crusting erythematous dermatitis, L... ORPHA:742
Infantile Neuroaxonal Dystrophy
Hyperactivity, Impulsivity, Flexion contracture, Apneic episodes in infancy, Aspiration pneumonia... ORPHA:35069
Renal Glucosuria
Polyuria, Enuresis nocturna, Glycosuria, Polydipsia, Polyphagia OMIM:233100
Alpha-Thalassemia
Hemolytic anemia, Abnormal hemoglobin, Microcytic anemia, Hypersplenism, Splenomegaly, Jaundice, ... ORPHA:846
Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease
Hepatomegaly, Hypopigmentation of hair, Abnormal eyebrow morphology, Aganglionic megacolon, Splen... ORPHA:163746
Pigmentary Disorder, Reticulate, With Systemic Manifestations, X-Linked
Urethral stricture, Failure to thrive in infancy, Recurrent pneumonia, Bronchiectasis, Corneal sc... OMIM:301220
Doors Syndrome
Increased urine alpha-ketoglutarate concentration, Respiratory distress, Adrenal hyperplasia, Low... ORPHA:79500
Classic Pantothenate Kinase-Associated Neurodegeneration
Dysphagia, Weight loss, Attention deficit hyperactivity disorder, Cough, Aspiration pneumonia ORPHA:216866
Spinocerebellar Ataxia With Axonal Neuropathy Type 1
Hypercholesterolemia, Hypoalbuminemia ORPHA:94124
Keutel Syndrome
Sinusitis, Recurrent bronchitis, Pulmonary artery hypoplasia, Recurrent otitis media, Emphysema, ... OMIM:245150
Niemann-Pick Disease, Type C1
Hepatomegaly, Fatal liver failure in infancy, Bone-marrow foam cells, Fetal ascites, Splenomegaly... OMIM:257220
Opitz Gbbb Syndrome
Congenital diaphragmatic hernia, High palate, Vesicoureteral reflux, Recurrent aspiration pneumon... ORPHA:2745
Autoinflammatory Disease, Systemic, X-Linked
Anterior uveitis, Osteomyelitis, Hepatosplenomegaly, Panuveitis, Panniculitis, B lymphocytopenia,... OMIM:301081
Mucoepithelial Dysplasia, Hereditary
Alopecia, Pneumonia, Eosinophilia, Recurrent pneumonia, Chronic mucocutaneous candidiasis, Furrow... OMIM:158310
Pyruvate Kinase Deficiency Of Red Cells
Hepatomegaly, Decreased hemoglobin concentration, Reticulocytosis, Reduced red cell pyruvate kina... OMIM:266200
Fanconi Anemia
Leukopenia, Abnormality of the liver, High palate, Abnormality of the hypothalamus-pituitary axis... ORPHA:84
Orofaciodigital Syndrome Viii
High palate, Recurrent aspiration pneumonia, Cleft palate OMIM:300484
Mucolipidosis Ii Alpha/Beta
Hepatomegaly, Inguinal hernia, Brittle hair, Increased serum beta-hexosaminidase, Cardiomegaly, S... OMIM:252500
Plague
Respiratory distress, Hepatomegaly, Chapped lip, Skin rash, Anorexia, Hematemesis, Splenomegaly, ... ORPHA:707
Cranioectodermal Dysplasia 2
Elevated hepatic transaminase, Hepatomegaly, Inguinal hernia, Renal insufficiency, Sparse eyelash... OMIM:613610
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Elevated hepatic transaminase, Recurrent respiratory infections, Dandy-Walker malformation, Failu... ORPHA:397715
Hb Bart'S Hydrops Fetalis
Hepatomegaly, Pericarditis, Abnormal hemoglobin, Splenomegaly, Hydrocephalus, Anemia ORPHA:163596
Chediak-Higashi Syndrome
Impaired neutrophil bactericidal activity, Hepatomegaly, Recurrent bacterial skin infections, Spo... OMIM:214500
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1
Hypercholesterolemia, Hypoalbuminemia OMIM:607250
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies
Neonatal respiratory distress, Psoriasiform dermatitis, Unilateral renal agenesis, Abnormal T cel... ORPHA:221139
Spondyloenchondrodysplasia With Immune Dysregulation
Recurrent respiratory infections, Pneumonia, Autoimmune thrombocytopenia, Lymphadenopathy, T lymp... OMIM:607944
Nephrotic Syndrome, Type 11
Diffuse mesangial sclerosis, Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidn... OMIM:616730
Aspartylglucosaminuria
Recurrent respiratory infections, Inguinal hernia, Hepatomegaly, Aspartylglucosaminuria, Macroorc... ORPHA:93
Hutchinson-Gilford Progeria Syndrome
Absent eyebrow, Female hypogonadism, Alopecia totalis, Decreased serum leptin, Insulin resistance... ORPHA:740
Chromosome 1P36 Deletion Syndrome, Distal
Ectopic kidney, Synophrys, Abnormal lung lobation, High palate, Gastroesophageal reflux, Hypothyr... OMIM:607872
Mitochondrial Complex Ii Deficiency, Nuclear Type 3
Hepatomegaly, Ketonuria, Lacticaciduria, Aspiration pneumonia, Left ventricular hypertrophy OMIM:619167
Microphthalmia-Microtia-Fetal Akinesia Syndrome
Hypoplasia of penis, Hydroureter, Camptodactyly of finger, Duodenal stenosis ORPHA:2547
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Gastroesophageal reflux, Compulsive behaviors, Otitis media, Vesicoureteral reflux, Abnormal repe... ORPHA:353281
Congenital Erythropoietic Porphyria
Anisocytosis, Increased stool urobilinogen concentration, Scarring alopecia of scalp, Abnormal ci... ORPHA:79277
Galloway-Mowat Syndrome 7
Diffuse mesangial sclerosis, Proteinuria, Eczema, Minimal change glomerulonephritis, Stage 5 chro... OMIM:618348
Simpson-Golabi-Behmel Syndrome, Type 1
Congenital diaphragmatic hernia, Abnormal lung lobation, Renal cyst, Hepatoblastoma, Hepatomegaly... OMIM:312870
Polycythemia Vera
Gastrointestinal hemorrhage, Hepatomegaly, Epistaxis, Portal hypertension, Pulmonary embolism, Po... ORPHA:729
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities
Hyponatremia, Calcinosis, Splenomegaly, Renal hypoplasia, Nephrocalcinosis, Aminoaciduria, Hypoka... OMIM:617913
Hypercholesterolemia, Familial, 4
Hypercholesterolemia, Hypertriglyceridemia, Decreased LDL cholesterol concentration OMIM:603813
Mucopolysaccharidosis Type 2
Communicating hydrocephalus, Hepatomegaly, Inguinal hernia, Hyperactivity, Impulsivity, Aggressiv... ORPHA:580
Glycogen Storage Disease Xii
Normocytic anemia, Hepatomegaly, Elevated circulating creatine kinase concentration, Splenomegaly... OMIM:611881
Fish-Eye Disease
Hepatomegaly, Splenomegaly, Decreased HDL cholesterol concentration, Lymphadenopathy ORPHA:79292
Crimean-Congo Hemorrhagic Fever
Elevated circulating creatine kinase concentration, Anorexia, Leukopenia, Conjunctivitis, Cholecy... ORPHA:99827
Multiple Myeloma
Hypercalcemia, Splenomegaly, Elevated circulating creatinine concentration, Functional abnormalit... ORPHA:29073
Cholestasis, Progressive Familial Intrahepatic, 9
Hepatomegaly, Malformation of the hepatic ductal plate, Portal hypertension, Splenomegaly, Intrah... OMIM:619849
Neuroleptic Malignant Syndrome
Elevated hepatic transaminase, Hyponatremia, Proteinuria, Urinary incontinence, Elevated circulat... ORPHA:94093
Mounier-Kühn Syndrome
Recurrent respiratory infections, Recurrent bronchopulmonary infections, Pneumonia, Bronchitis ORPHA:3347
Cystinosis, Nephropathic
Oral-pharyngeal dysphagia, Aminoaciduria, Renal Fanconi syndrome, Low-molecular-weight proteinuri... OMIM:219800
Mucolipidosis Type Ii
Hip contracture, Inguinal hernia, Recurrent respiratory infections, Respiratory failure requiring... ORPHA:576
Acrodermatitis Enteropathica, Zinc-Deficiency Type
Hepatomegaly, Splenomegaly, Decreased serum zinc, Alopecia of scalp, Hypogonadism, Decreased seru... OMIM:201100
Deafness-Small Bowel Diverticulosis-Neuropathy Syndrome
Malabsorption, Duodenal ulcer, Cachexia, Steatorrhea ORPHA:3217
Biotinidase Deficiency
Hepatomegaly, Alopecia, Apnea, Skin rash, Recurrent skin infections, Seborrheic dermatitis, Splen... OMIM:253260
Dehydrated Hereditary Stomatocytosis
Hemolytic anemia, Reticulocytosis, Macrocytic anemia, Cholelithiasis, Anemia of inadequate produc... ORPHA:3202
Reynolds Syndrome
Elevated hepatic transaminase, Hepatomegaly, Calcinosis, Gastrointestinal hemorrhage, Erythema no... OMIM:613471
Coffin-Siris Syndrome 1
Dry hair, Congenital diaphragmatic hernia, Ectopic kidney, High palate, Compulsive behaviors, Dan... OMIM:135900
Pulmonary Alveolar Proteinosis, Acquired
Brain abscess, Recurrent respiratory infections, Lung abscess, Pneumonia, Dyspnea, Intraalveolar ... OMIM:610910
Primary Triglyceride Deposit Cardiomyovasculopathy
Hepatomegaly, Inflammatory abnormality of the skin, Diabetes mellitus, Elevated circulating creat... ORPHA:565612
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome
Ventriculomegaly, Hydroureter, Anal stenosis, Elevated circulating alpha-fetoprotein concentratio... ORPHA:280633
Meier-Gorlin Syndrome 7
Urethral stricture, Anal stenosis, Hypospadias, Cryptorchidism, Cleft palate, Duodenal stenosis, ... OMIM:617063
Marshall-Smith Syndrome
Brittle hair, Apnea, Bilateral cryptorchidism, Synophrys, Anteriorly placed anus, Glossoptosis, H... OMIM:602535
Ciliary Dyskinesia, Primary, 43
Neonatal respiratory distress, Productive cough, Recurrent upper respiratory tract infections, Br... OMIM:618699
Hereditary Spherocytosis
Hepatomegaly, Reticulocytosis, Spontaneous hemolytic crises, Extramedullary hematopoiesis, Maculo... ORPHA:822
Ectodermal Dysplasia And Immunodeficiency 2
Recurrent respiratory infections, Hepatomegaly, Sparse scalp hair, Splenomegaly, Aplasia of the s... OMIM:612132
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome
Respiratory distress, Ureteral duplication, Failure to thrive, Small for gestational age, Intesti... ORPHA:2255
Hereditary Bullous Dystrophy, Macular Type
Alopecia, Congenital abnormal hair pattern, Pneumonia, Cryptorchidism, Nail dystrophy, Atrichia, ... ORPHA:1867
Alobar Holoprosencephaly
Central apnea, Chronic lung disease, Diabetes insipidus, Decreased response to growth hormone sti... ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly
Central apnea, Chronic lung disease, Diabetes insipidus, Decreased response to growth hormone sti... ORPHA:93926
Lobar Holoprosencephaly
Central apnea, Chronic lung disease, Diabetes insipidus, Decreased response to growth hormone sti... ORPHA:93924
Semilobar Holoprosencephaly
Central apnea, Chronic lung disease, Diabetes insipidus, Decreased response to growth hormone sti... ORPHA:220386
Geleophysic Dysplasia 3
Dyspnea, Hepatomegaly, Respiratory failure, Pneumonia OMIM:617809
Hepatoerythropoietic Porphyria
Facial hypertrichosis, Hemolytic anemia, Recurrent bacterial skin infections, Scarring, Splenomeg... ORPHA:95159
Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency
Hyponatremia, Adrenal hyperplasia, Hypospadias, Scrotal hypospadias, Cryptorchidism, Increased ci... OMIM:201810
Fraser Syndrome 1
Abnormal small intestine morphology, Absent eyebrow, Hypospadias, Absent eyelashes, Cryptorchidis... OMIM:219000
Cleft Velum
Cleft soft palate, Oral-pharyngeal dysphagia, Velopharyngeal insufficiency, Aspiration pneumonia,... ORPHA:99772
Craniopharyngioma
Enlarged pituitary gland, Hypogonadotropic hypogonadism, Neoplasm of the anterior pituitary, Hydr... ORPHA:54595
Diets-Jongmans Syndrome
Inguinal hernia, Hypospadias, Congenital diaphragmatic hernia, Aggressive behavior, Cryptorchidis... OMIM:618846
Mendelian Susceptibility To Mycobacterial Diseases Due To Complete Il12Rb1 Deficiency
Lymphadenitis, Salmonella osteomyelitis, Pneumonia ORPHA:319552
Nk-Cell Enteropathy
Colonic diverticula, Duodenal ulcer, Abnormal gastric mucosa morphology, Increased T cell count, ... ORPHA:263665
Neuhauser Syndrome
Low anterior hairline, High palate, Primary hypothyroidism, Dysphagia, Hypercholesterolemia, Bifi... OMIM:249310
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy
Fat malabsorption, Small bowel diverticula, Hypoproteinemia, Jejunoileal ulceration OMIM:221400
Mosaic Trisomy 16
Abnormality of the gastrointestinal tract, Small for gestational age, Hypospadias, Maternal diabe... ORPHA:1708
Congenital Fiber-Type Disproportion Myopathy
Hip contracture, Recurrent respiratory infections, Failure to thrive, Ankle flexion contracture, ... ORPHA:2020
9Q31.1Q31.3 Microdeletion Syndrome
Thick hair, Highly arched eyebrow, Overweight, Renovascular hypertension, Type II diabetes mellit... ORPHA:401923
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome
Respiratory distress, Multiple joint contractures, Repeated pneumothoraces, Atelectasis, Hydrocep... ORPHA:536467
Polycythemia Vera
Gastrointestinal hemorrhage, Splenomegaly, Leukocytosis, Increased hemoglobin, Increased red bloo... OMIM:263300
Tarp Syndrome
Meckel diverticulum, Horseshoe kidney, Cleft palate, Tongue nodules, Glossoptosis, High palate, H... OMIM:311900
Anemia, Congenital Dyserythropoietic, Type Ia
Hemolytic anemia, Reticulocytosis, Hepatomegaly, Small for gestational age, Anisocytosis, Anemia ... OMIM:224120
Mohr-Tranebjaerg Syndrome
Attention deficit hyperactivity disorder, Aspiration pneumonia, Dysphagia ORPHA:52368
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)
Acute hepatic failure, Elevated hepatic transaminase, Hepatomegaly, Failure to thrive, Hypoventil... OMIM:203700
Dehydrated Hereditary Stomatocytosis 2
Hepatomegaly, Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Jaundice, Increase... OMIM:616689
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Hepatomegaly, Reticulocytosis, Splenomegaly, Jaundice, Increased circulating ferritin concentrati... OMIM:194380
Autosomal Recessive Malignant Osteopetrosis
Hepatomegaly, Recurrent respiratory infections, Apnea, Abnormality of hair texture, Splenomegaly,... ORPHA:667
Orofaciodigital Syndrome Ix
High palate, Recurrent aspiration pneumonia, Cleft palate, Camptodactyly OMIM:258865
Adrenal Hyperplasia, Congenital, Due To 17-Alpha-Hydroxylase Deficiency
Adrenal hyperplasia, Adrenogenital syndrome OMIM:202110
Cholera
Hyponatremia, Abnormality of renal excretion, Hypoglycemia, Achlorhydria, Tachypnea, Abnormal blo... ORPHA:173
Camurati-Engelmann Disease
Hepatomegaly, Cachexia, Anorexia, Splenomegaly, Abnormal subcutaneous fat tissue distribution, Le... ORPHA:1328
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
High palate, Gastroesophageal reflux, Compulsive behaviors, Otitis media, Vesicoureteral reflux, ... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
High palate, Gastroesophageal reflux, Compulsive behaviors, Otitis media, Vesicoureteral reflux, ... ORPHA:353277
Duodenal Ulcer Due To Antral G-Cell Hyperfunction
Hyperpepsinogenemia I, Duodenal ulcer, Hypergastrinemia OMIM:126840
Cockayne Syndrome
Dry hair, Urinary incontinence, Congenital contracture, Gastroesophageal reflux, Hepatomegaly, Cr... ORPHA:191
Abetalipoproteinemia
Fat malabsorption, Abetalipoproteinemia, Acanthocytosis OMIM:200100
Blau Syndrome
Pericarditis, Skin rash, Camptodactyly of finger, Keratitis, Splenomegaly, Retrobulbar optic neur... ORPHA:90340
Triosephosphate Isomerase Deficiency
Normocytic anemia, Hemolytic anemia, Macrocytic anemia, Failure to thrive, Respiratory distress, ... OMIM:615512
Osteopetrosis, Autosomal Recessive 7
Hepatomegaly, Splenomegaly, Hydrocephalus, Recurrent pneumonia, Lateral ventricle dilatation, Hyp... OMIM:612301
Woodhouse-Sakati Syndrome
Decreased serum testosterone concentration, Alopecia, Streak ovary, Decreased response to growth ... ORPHA:3464
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency
Normocytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Normochromic anemia, Cholecystitis, H... OMIM:235700
Chromosome Xq26.3 Duplication Syndrome
Elevated circulating growth hormone concentration, Pituitary adenoma, Increased circulating insul... OMIM:300942
Cockayne Syndrome A
Reduced subcutaneous adipose tissue, Hip contracture, Hepatomegaly, Renal insufficiency, Proteinu... OMIM:216400
Feingold Syndrome Type 1
Renal insufficiency, Jejunal atresia, Esophageal atresia, Gastrointestinal atresia, Horseshoe kid... ORPHA:391641
Duodenal Atresia
Duodenal atresia OMIM:223400
Spinocerebellar Ataxia With Axonal Neuropathy Type 2
Elevated circulating creatine kinase concentration, Elevated circulating alpha-fetoprotein concen... ORPHA:64753
Congenital Lipomatous Overgrowth, Vascular Malformations, And Epidermal Nevi
Lipoma, Splenomegaly, Renal hypoplasia OMIM:612918
Simpson-Golabi-Behmel Syndrome
Ureteral duplication, Hypoplasia of penis, Congenital diaphragmatic hernia, High, narrow palate, ... ORPHA:373
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency
Impaired neutrophil bactericidal activity, Pigment gallstones, Spontaneous hemolytic crises, Sple... OMIM:613470
Johanson-Blizzard Syndrome
Fair hair, Conjugated hyperbilirubinemia, Anteriorly placed anus, Hepatic fibrosis, Hypocalcemia,... OMIM:243800
Familial Adenomatous Polyposis Due To 5Q22.2 Microdeletion
Duodenal polyposis, Early balding, Adenomatous colonic polyposis, Desmoid tumors, Low posterior h... ORPHA:261584
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion
Respiratory distress, Hypoventilation, Apnea, Recurrent pneumonia, High palate, Aspiration pneumo... ORPHA:314655
Cockayne Syndrome B
Reduced subcutaneous adipose tissue, Hepatomegaly, Renal insufficiency, Dry hair, Small for gesta... OMIM:133540
Visceral Myopathy 1
Aganglionic megacolon, Intestinal pseudo-obstruction, Microcolon, Megacystis, Hydronephrosis, Uri... OMIM:155310
Fontaine Progeroid Syndrome
High, narrow palate, Synophrys, Low anterior hairline, Anteriorly placed anus, Coarse hair, Gastr... OMIM:612289
Gaucher Disease Type 3
Hepatomegaly, Pancytopenia, Recurrent respiratory infections, Proteinuria, Splenomegaly, Abnormal... ORPHA:77261
Iniencephaly
Omphalocele, Anal atresia, Congenital diaphragmatic hernia, Hydrocephalus, Arthrogryposis multipl... ORPHA:63259
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Hypercholesterolemia, Hypoalbuminemia, Elevated circulating creatine kinase concentration OMIM:208920
Wagro Syndrome
Proteinuria, Aggressive behavior, Obesity, Agitation, Compulsive behaviors, Polyphagia, Decreased... OMIM:612469
Sickle Cell Disease
Hemolytic anemia, Hepatomegaly, Renal insufficiency, Cardiomegaly, Splenomegaly, Splenic infarcti... OMIM:603903
Gangliocytoma
Pituitary null cell adenoma, Elevated circulating growth hormone concentration, Abnormal pituitar... ORPHA:251937
Townes-Brocks Syndrome 1
Multicystic kidney dysplasia, Renal insufficiency, Small for gestational age, Hypospadias, Urethr... OMIM:107480
Zimmermann-Laband Syndrome 1
Hepatomegaly, Thick eyebrow, Thick hair, Highly arched eyebrow, Splenomegaly, Synophrys, Long pen... OMIM:135500
Bardet-Biedl Syndrome 20
Elevated hepatic transaminase, Proteinuria, Bilateral cryptorchidism, Asthma, Obesity, Male hypog... OMIM:619471
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency
Congenital adrenal hyperplasia, Long penis, Decreased circulating aldosterone level, Adrenogenita... OMIM:202010
Joubert Syndrome 21
Apnea, Splenomegaly, Dyspnea, Renal cyst, Respiratory failure, Pulmonary hypoplasia, Dysphagia, C... OMIM:615636
Overhydrated Hereditary Stomatocytosis
Hepatomegaly, Hemolytic anemia, Reticulocytosis, Pulmonary embolism, Splenomegaly, Jaundice, Stom... OMIM:185000
Megalocornea-Intellectual Disability Syndrome
Hypercholesterolemia, High palate, Abnormal repetitive mannerisms, Hypothyroidism ORPHA:2479
Mucopolysaccharidosis Type 2, Severe Form
Inguinal hernia, Camptodactyly of finger, Heparan sulfate excretion in urine, Splenomegaly, Flexi... ORPHA:217085
Menke-Hennekam Syndrome 2
Recurrent upper respiratory tract infections, Duodenal ulcer OMIM:618333
Hyper-Igd Syndrome
Neutrophilia, Skin rash, Splenomegaly, Lymphadenitis, Leukocytosis, Lymphadenopathy, Hepatospleno... OMIM:260920
Mucopolysaccharidosis Type 2, Attenuated Form
Inguinal hernia, Camptodactyly of finger, Heparan sulfate excretion in urine, Splenomegaly, Flexi... ORPHA:217093
Wolf-Hirschhorn Syndrome
Accessory spleen, Small for gestational age, Hypospadias, Highly arched eyebrow, Precocious puber... OMIM:194190
Gastrointestinal Ulceration, Recurrent, With Dysfunctional Platelets
Duodenal ulcer, Decreased circulating 12-HETE, Iron deficiency anemia, Gastric ulcer, Esophageal ... OMIM:618372
Agammaglobulinemia 1, Autosomal Recessive
Recurrent respiratory infections, Recurrent pneumonia, Bronchiectasis, B lymphocytopenia, Rectal ... OMIM:601495
Thrombocytopenia-Absent Radius Syndrome
Ureteral duplication, Eosinophilia, Seborrheic dermatitis, Pancreatic cysts, Leukocytosis, Horses... OMIM:274000
Hereditary Orotic Aciduria
Recurrent respiratory infections, Orotic acid crystalluria, Splenomegaly, Abnormality of the uret... ORPHA:30
Juvenile Polyposis/Hereditary Hemorrhagic Telangiectasia Syndrome
Juvenile gastrointestinal polyposis, Epistaxis, Pulmonary arteriovenous malformation, Hematochezi... OMIM:175050
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Reticulocytosis, Anisocytosis, Splenomegaly, Leukocytosis, Jaundice, Hemoglobinuria, Poikilocytos... OMIM:300908
African Trypanosomiasis
Urinary incontinence, Conjunctivitis, Iritis, Hepatomegaly, Alopecia, Abnormality of the endocrin... ORPHA:3385
Choreoacanthocytosis
Elevated circulating creatine kinase concentration, Compulsive behaviors, Hepatomegaly, Self-muti... ORPHA:2388
X-Linked Dystonia-Parkinsonism
Impaired oropharyngeal swallow response, Aspiration pneumonia, Protruding tongue ORPHA:53351
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related
Repetitive compulsive behavior, Hypersexuality, Lateral ventricle dilatation, Agitation, Disinhib... OMIM:607485
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Hypoventilation, Apnea, Decreased serum iron, Breathing dysregulation, Abnormality of the endocri... ORPHA:438213
Hereditary Elliptocytosis
Hemolytic anemia, Reticulocytosis, Abnormal erythrocyte morphology, Splenomegaly, Jaundice, Stoma... ORPHA:288
Combined Oxidative Phosphorylation Deficiency 25
Failure to thrive, Reduced circulating growth hormone concentration, Ventriculomegaly, Aspiration... OMIM:616430
Kabuki Syndrome 1
Premature thelarche, High palate, Micropenis, Recurrent aspiration pneumonia, Hemolytic anemia, H... OMIM:147920
Lowe Oculocerebrorenal Syndrome
Elevated circulating creatine kinase concentration, Bicarbonaturia, Aminoaciduria, Renal Fanconi ... OMIM:309000
Spherocytosis, Type 1
Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Hyperbilirubinemia, Cho... OMIM:182900
Pancreas, Annular
Annular pancreas, High intestinal obstruction, Duodenal stenosis OMIM:167750
Annular Pancreas
Annular pancreas, High intestinal obstruction, Duodenal stenosis ORPHA:675
Mungan Syndrome
Barrett esophagus, Intestinal pseudo-obstruction, Hypoperistalsis, Renal hypoplasia, Vesicoureter... OMIM:611376
Telangiectasia, Hereditary Hemorrhagic, Type 1
Tongue telangiectasia, Gastrointestinal arteriovenous malformation, Polycythemia, Palate telangie... OMIM:187300
Adult-Onset Autosomal Dominant Leukodystrophy
Flexion contracture, Urinary urgency, Urinary retention, Aspiration pneumonia, Dysphagia ORPHA:99027
Amoebiasis Due To Free-Living Amoebae
Restlessness, Sinusitis, Pneumonia, Respiratory tract infection, Pustule, Granuloma, Abnormality ... ORPHA:68
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 3
Pneumonia OMIM:608033
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome
Decreased response to growth hormone stimulation test, Synophrys, Glossoptosis, High palate, Gast... ORPHA:444077
Lissencephaly Due To Lis1 Mutation
Neonatal hyperbilirubinemia, Ventriculomegaly, Aspiration pneumonia ORPHA:95232
Genitopatellar Syndrome
Hip contracture, Multicystic kidney dysplasia, Anal stenosis, Sparse scalp hair, Cryptorchidism, ... OMIM:606170
Neonatal Acute Respiratory Distress Due To Sp-B Deficiency
Neonatal respiratory distress, Spontaneous neonatal pneumothorax, Tachypnea, Intraalveolar phosph... ORPHA:217563
Thalidomide Embryopathy
Insulin resistance, Chronic rhinitis ORPHA:3312
Duodenal Ulcer, Hyperpepsinogenemic I
Hyperpepsinogenemia I, Duodenal ulcer OMIM:126850
Hereditary Sensory And Autonomic Neuropathy Type 4
Nail-biting, Fasciitis, Hyperactivity, Osteomyelitis, Abscess, Impulsivity, Self-mutilation, Chro... ORPHA:642
Proteus Syndrome
Thymus hyperplasia, Macroorchidism, Abnormal dental enamel morphology, Cachexia, Pulmonary emboli... ORPHA:744
Mercury Poisoning
Respiratory distress, Anorexia, Dyspnea, Interstitial pneumonitis, Hypokalemia, Respiratory failu... ORPHA:330021
Spherocytosis, Type 4
Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Hyperbilirubinemia OMIM:612653
Generalized Juvenile Polyposis/Juvenile Polyposis Coli
Small intestinal polyposis, Duodenal polyposis, Rectal polyposis, Adenomatous colonic polyposis, ... ORPHA:329971
Spherocytosis, Type 2
Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Jaundice, Spherocytosis, Hyperbi... OMIM:616649
Polyendocrine-Polyneuropathy Syndrome
Decreased testicular size, Alopecia, Hypogonadotropic hypogonadism, Anterior pituitary hypoplasia... ORPHA:453533
Telangiectasia, Hereditary Hemorrhagic, Type 2
Brain abscess, Spontaneous, recurrent epistaxis, Pulmonary arteriovenous malformation, Hematemesi... OMIM:600376
Hypoplasminogenemia
Cervicitis, Duodenal ulcer, Hydrocephalus, Decreased level of plasminogen, Nephrolithiasis, Perio... ORPHA:722
Hyperlipidemia, Familial Combined, 3
Increased VLDL cholesterol concentration, Hyperlipidemia, Elevated circulating apolipoprotein B c... OMIM:144250
Ataxia-Oculomotor Apraxia 4
Hypercholesterolemia, Hypoalbuminemia, Obesity, Elevated circulating alpha-fetoprotein concentration OMIM:616267
Attenuated Familial Adenomatous Polyposis
Duodenal polyposis, Neoplasm of the stomach, Rectal polyposis, Adenomatous colonic polyposis, Mul... ORPHA:220460
Okamoto Syndrome
Omphalocele, Exaggerated median tongue furrow, Anal stenosis, Urinary incontinence, Intestinal ma... ORPHA:2729
Hepatic Lipase Deficiency
Hypercholesterolemia, Hypertriglyceridemia, Increased HDL cholesterol concentration OMIM:614025
Ciliary Dyskinesia, Primary, 20
Recurrent respiratory infections, Productive cough, Absent outer dynein arms, Pulmonary artery st... OMIM:615067
Tremor-Nystagmus-Duodenal Ulcer Syndrome
Duodenal ulcer ORPHA:3350
Abdominal Obesity-Metabolic Syndrome 3
Hypertriglyceridemia, Increased LDL cholesterol concentration, Truncal obesity, Abdominal obesity... OMIM:615812
Spondyloocular Syndrome
Unilateral cryptorchidism, Duodenal ulcer, Low posterior hairline, Decreased body weight OMIM:605822
Acute Radiation Syndrome
Inflammatory abnormality of the skin, Interstitial pneumonitis, Granulocytopenia, Lymphopenia, Th... ORPHA:454831
Tremor, Nystagmus, And Duodenal Ulcer
Duodenal ulcer OMIM:190310
Bickerstaff Brainstem Encephalitis
Respiratory failure requiring assisted ventilation, Pneumonia, Hypercapnia, Respiratory tract inf... ORPHA:79138
Corpus Callosum, Agenesis Of, With Impaired Intellectual Development, Ocular Coloboma, And Micrognathia
Bilateral cryptorchidism, Recurrent pneumonia, High palate, Recurrent aspiration pneumonia, Bifid... OMIM:300472
Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction
Hypoventilation, Small intestinal dysmotility, Urinary incontinence, Apnea, Hypopnea, Restrictive... OMIM:619482
Chromosome 22Q13 Duplication Syndrome
Attention deficit hyperactivity disorder, Polyphagia, Impulsivity OMIM:615538
Holoprosencephaly 13, X-Linked
Submucous cleft hard palate, Cleft palate, Colpocephaly, Gastroesophageal reflux, Median cleft pa... OMIM:301043
Arboleda-Tham Syndrome
Respiratory distress, Recurrent respiratory infections, Neonatal respiratory distress, Intestinal... OMIM:616268
Familial Adenomatous Polyposis 4
Duodenal polyposis, Gastric adenocarcinoma, Adenomatous colonic polyposis, Renal cyst, Ovarian cy... OMIM:617100
Chand Syndrome
Curly hair, Hydroureter, Atelectasis, Cleft palate, Bifid tongue ORPHA:1401
Down Syndrome
Aganglionic megacolon, Protruding tongue, Pulmonary artery stenosis, Partial anomalous pulmonary ... OMIM:190685
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal
Hypertriglyceridemia, Hypospadias, Nail dystrophy, Hypercholesterolemia, Decreased testicular size OMIM:610644
Ataxia With Vitamin E Deficiency
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia, Xanthelasma OMIM:277460
Homozygous Familial Hypercholesterolemia
Dyspnea, Hyperlipidemia, Increased LDL cholesterol concentration, Renal artery stenosis, Hypercho... ORPHA:391665
Hypercholesterolemia, Familial, 3
Xanthelasma, Abnormal LDL cholesterol concentration, Hypercholesterolemia OMIM:603776
Hypercholesterolemia, Familial, 2
Increased LDL cholesterol concentration, Xanthelasma, Hypercholesterolemia OMIM:144010
Atrial Septal Defect, Ostium Secundum Type
Orthopnea, Pneumonia, Breathing dysregulation, Increased pulmonary vascular resistance, Dyspnea, ... ORPHA:99103
Atrial Septal Defect, Coronary Sinus Type
Pneumonia, Increased pulmonary vascular resistance, Dyspnea, Anomalous pulmonary venous return, P... ORPHA:99104
Lafora Disease
Hepatic failure, Recurrent aspiration pneumonia ORPHA:501
Yunis-Varon Syndrome
Sparse scalp hair, Absent nipple, Hypospadias, Small for gestational age, Failure to thrive in in... 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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