Gene Summary

PRAME like 12
4732496O08Rik,  Pramef8

IMPC Data Collections

IMPC Phenotype Summary

Not Significant
Not tested


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

Phenotype System Allele Zyg Sex Life Stage P Value
abnormal kidney morphology Pramel12em1(IMPC)Mbp HOM Late adult 0.00
enlarged spleen Pramel12em1(IMPC)Mbp HOM Late adult 0.00
abnormal heart morphology Pramel12em1(IMPC)Mbp HOM Early adult 0.00
abnormal duodenum morphology Pramel12em1(IMPC)Mbp HOM Late adult 0.00
abnormal testis morphology Pramel12em1(IMPC)Mbp HOM Late adult 0.00
abnormal cecum morphology Pramel12em1(IMPC)Mbp HOM Late adult 0.00
small kidney Pramel12em1(IMPC)Mbp HOM Late adult 0.00
abnormal spleen morphology Pramel12em1(IMPC)Mbp HOM Late adult 0.00
small heart Pramel12em1(IMPC)Mbp HOM Late adult 0.00
abnormal kidney morphology Pramel12em1(IMPC)Mbp HOM Early adult 0.00
abnormal stomach morphology Pramel12em1(IMPC)Mbp HOM Late adult 0.00
small heart Pramel12em1(IMPC)Mbp HOM Early adult 0.00
abnormal pancreas morphology Pramel12em1(IMPC)Mbp HOM Late adult 0.00
male infertility Pramel12em1(IMPC)Mbp HOM Early adult 0.00
abnormal jejunum morphology Pramel12em1(IMPC)Mbp HOM Late adult 0.00
abnormal eye morphology Pramel12em1(IMPC)Mbp HOM Late adult 0.00
abnormal urinary bladder morphology Pramel12em1(IMPC)Mbp HOM Late adult 0.00
small testis Pramel12em1(IMPC)Mbp HOM Late adult 0.00
abnormal seminal vesicle morphology Pramel12em1(IMPC)Mbp HOM Late adult 0.00
abnormal heart morphology Pramel12em1(IMPC)Mbp HOM Late adult 0.00
small kidney Pramel12em1(IMPC)Mbp HOM Early adult 0.00

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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.


XRay Images Whole Body Dorso Ventral

84 Images


XRay Images Whole Body Lateral Orientation

28 Images


XRay Images Whole Body Lateral Orientation

1 Images


XRay Images Whole Body Dorso Ventral

3 Images

Human diseases caused by Pramel12 mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Pramel12 by phenotypic similarity.

Disease Similarity of
Matching phenotypes Source
Spermatogenic Failure 5
Functional abnormality of male internal genitalia, Male infertility OMIM:243060
Spermatogenic Failure 46
Reduced sperm motility, Coiled sperm flagella, Irregularly shaped sperm tail, Male infertility, S... OMIM:619095
Spermatogenic Failure 43
Absent sperm axoneme central pair complex, Reduced sperm motility, Coiled sperm flagella, Male in... OMIM:618751
Spermatogenic Failure 49
Reduced sperm motility, Coiled sperm flagella, Male infertility, Short sperm flagella, Absent spe... OMIM:619144
Spermatogenic Failure 45
Reduced sperm motility, Coiled sperm flagella, Male infertility, Short sperm flagella, Absent spe... OMIM:619094
Spermatogenic Failure 56
Oligospermia, Reduced sperm motility, Coiled sperm flagella, Irregularly shaped sperm tail, Male ... OMIM:619515
Spermatogenic Failure, X-Linked, 3
Oligospermia, Reduced sperm motility, Coiled sperm flagella, Irregularly shaped sperm tail, Male ... OMIM:301059
Spermatogenic Failure 54
Oligospermia, Cryptozoospermia, Reduced sperm motility, Abnormal sperm axoneme morphology, Coiled... OMIM:619379
Spermatogenic Failure 58
Oligospermia, Immotile sperm, Irregularly shaped sperm tail, Reduced progressive sperm motility, ... OMIM:619585
Spermatogenic Failure 40
Oligospermia, Immotile sperm, Coiled sperm flagella, Male infertility, Short sperm flagella, Abse... OMIM:618664
Spermatogenic Failure 42
Reduced sperm motility, Coiled sperm flagella, Tapered sperm head, Male infertility, Short sperm ... OMIM:618745
Spermatogenic Failure 39
Oligospermia, Reduced sperm motility, Coiled sperm flagella, Tapered sperm head, Male infertility... OMIM:618643
Alpha-Heavy Chain Disease
Hepatomegaly, Abnormality of the small intestine, Ascites, Lymphadenopathy, Anemia, Malabsorption... ORPHA:100025
Spermatogenic Failure 62
Early spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia OMIM:619673
Spermatogenic Failure 61
Early spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia OMIM:619672
Spermatogenic Failure 59
Spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia OMIM:619645
Spermatogenic Failure 60
Spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia OMIM:619646
Spermatogenic Failure 47
Oligospermia, Immotile sperm, Male infertility, Short sperm flagella, Absent sperm flagella OMIM:619102
Deafness-Infertility Syndrome
Abnormal spermatogenesis, Male infertility, Reduced sperm motility OMIM:611102
Spermatogenic Failure, Y-Linked, 1
Male infertility, Reduced sperm motility OMIM:400042
Spermatogenic Failure 55
Male infertility, Reduced sperm motility OMIM:619380
Spermatogenic Failure 7
Oligospermia, Male infertility, Immotile sperm, Reduced sperm motility OMIM:612997
Spermatogenic Failure 41
Oligospermia, Immotile sperm, Tapered sperm head, Male infertility, Short sperm flagella OMIM:618670
Male Infertility Due To Acephalic Spermatozoa
Oligospermia, Abnormal sperm mid-piece morphology, Reduced sperm motility, Acephalic spermatozoa,... ORPHA:529970
Spermatogenic Failure 48
Oligospermia, Male infertility, Spermatogenesis maturation arrest, Azoospermia OMIM:619108
Spermatogenic Failure 11
Oligospermia, Male infertility, Abnormal sperm morphology, Reduced sperm motility OMIM:615081
Martinez-Frias Syndrome
Hypospadias, Pancreatic hypoplasia, Duodenal atresia, Annular pancreas, Jejunal atresia, Intestin... OMIM:601346
Spermatogenic Failure 57
Spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia OMIM:619528
Spermatogenic Failure 1
Oligospermia, Male infertility, Cryptozoospermia OMIM:258150
Spermatogenic Failure 36
Abnormal sperm morphology, Male infertility OMIM:618420
Spermatogenic Failure 44
Male infertility, Acephalic spermatozoa, Reduced sperm motility OMIM:619044
Serrated Polyposis Syndrome
Colorectal polyposis, Ovarian neoplasm, Adenomatous colonic polyposis, Biliary tract neoplasm, Pa... ORPHA:157798
Syndromic Recessive X-Linked Ichthyosis
Testicular seminoma, Acute leukemia, Abnormal stomach morphology, Hypogonadism, Unilateral renal ... ORPHA:281090
Mucocutaneous Ulceration, Chronic
Vaginal mucosal ulceration, Ileitis OMIM:618287
Spermatogenic Failure 50
Spermatogenesis maturation arrest, Male infertility, Azoospermia OMIM:619145
Congenital Alveolar Capillary Dysplasia
Bicuspid aortic valve, Hydronephrosis, Aganglionic megacolon, Ventricular septal defect, Duodenal... ORPHA:210122
Spermatogenic Failure 31
Male infertility, Acephalic spermatozoa OMIM:618112
Spermatogenic Failure 53
Tapered sperm head, Male infertility OMIM:619258
Matthew-Wood Syndrome
Horseshoe kidney, Renal hypoplasia, Duodenal stenosis, Annular pancreas, Aplasia/Hypoplasia of th... ORPHA:2470
Partial Chromosome Y Deletion
Oligospermia, Abnormal spermatogenesis, Male infertility, Non-obstructive azoospermia ORPHA:1646
Meckel Diverticulum
Meckel diverticulum OMIM:155140
Spermatogenic Failure 52
Male infertility, Azoospermia OMIM:619202
Blood Group, Cromer System
Protein-losing enteropathy OMIM:613793
Appendicitis, Proneness To
Abnormal large intestine morphology OMIM:107700
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Hepatomegaly, Abnormal intestine morphology, Lymphadenopathy, Splenomegaly, Autoimmune hemolytic ... OMIM:618495
Heterotaxy, Visceral, 11, Autosomal, With Male Infertility
Primum atrial septal defect, Duodenal atresia, Partial atrioventricular canal defect, Situs inver... OMIM:619608
Fetal Cytomegalovirus Syndrome
Hepatomegaly, Anemia, Splenomegaly ORPHA:294
Mantle Cell Lymphoma
Lymphadenopathy, Splenomegaly, Abnormality of the gastrointestinal tract ORPHA:52416
Azoospermia, Obstructive, With Nephrolithiasis
Obstructive azoospermia, Male infertility, Nephrolithiasis OMIM:301060
Deafness-Infertility Syndrome
Male infertility, Azoospermia ORPHA:94064
Mitchell-Riley Syndrome
Pancreatic hypoplasia, Duodenal atresia, Acholic stools, Annular pancreas, Malabsorption, Jejunal... OMIM:615710
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome
Hepatomegaly, Splenomegaly ORPHA:2274
Colonic Varices Without Portal Hypertension
Intestinal bleeding, Colonic varices OMIM:120440
Perlman Syndrome
High, narrow palate, Hepatomegaly, Abnormal pancreas morphology, Cryptorchidism, Hypoplasia of pe... ORPHA:2849
Renal-Hepatic-Pancreatic Dysplasia 1
Hepatomegaly, Hepatic fibrosis, Asplenia, Pancreatic cysts, Polysplenia, Bile duct proliferation,... OMIM:208540
African Iron Overload
Hepatomegaly, Hepatic fibrosis, Hepatocellular carcinoma, Elevated hepatic iron concentration, Pe... ORPHA:139507
Fanconi Anemia, Complementation Group W
Renal hypoplasia, Decreased response to growth hormone stimulation test, Polysplenia, Duodenal at... OMIM:617784
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility
Dextrocardia, Situs inversus totalis, Male infertility OMIM:618948
Duodenal Atresia
Abnormality of the pancreas, Duodenal atresia, Annular pancreas ORPHA:1203
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome
Abnormal esophagus physiology, Dysphagia, Hepatomegaly, Esophageal neoplasm, Abnormal large intes... ORPHA:2198
Congenital Disorder Of Glycosylation, Type Ih
Hepatomegaly, Ascites, Abnormal heart morphology, Anemia, Cholestasis, Hypothyroidism, Abnormal c... OMIM:608104
Hemochromatosis, Type 1
Testicular atrophy, Hepatomegaly, Hepatocellular carcinoma, Amenorrhea, Azoospermia, Ascites, Hyp... OMIM:235200
Hyperlipoproteinemia, Type Id
Hepatomegaly, Colitis, Splenomegaly OMIM:615947
Umbilical Cord Ulceration-Intestinal Atresia Syndrome
Ventricular septal defect, Duodenal atresia, Abnormal tricuspid valve morphology, Anemia, Intesti... ORPHA:3405
Isochromosomy Yp
Male infertility, Azoospermia ORPHA:98797
Microgastria-Limb Reduction Defects Association
Cystic renal dysplasia, Horseshoe kidney, Microgastria, Aganglionic megacolon, Asplenia, Pelvic k... OMIM:156810
Intrinsic Factor And R Binder, Combined Congenital Deficiency Of
Absence of intrinsic factor, Megaloblastic anemia OMIM:243320
Spermatogenic Failure 38
Oligospermia, Reduced sperm motility, Coiled sperm flagella, Tapered sperm head, Male infertility... OMIM:618433
Hypogonadism, Male
Hypospadias, Micropenis, Male hypogonadism, Testicular atrophy OMIM:241100
Congenital Bile Acid Synthesis Defect Type 1
Hepatomegaly, Malabsorption, Splenomegaly, Cirrhosis, Gastrointestinal hemorrhage, Neonatal chole... ORPHA:79301
Fanconi Anemia, Complementation Group F
Renal hypoplasia, Duodenal atresia, Leukopenia, Pelvic kidney, Decreased response to growth hormo... OMIM:603467
Annular Pancreas
High intestinal obstruction, Duodenal stenosis, Annular pancreas ORPHA:675
Pancreas, Annular
High intestinal obstruction, Duodenal stenosis, Annular pancreas OMIM:167750
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency
Hepatomegaly, Decreased proportion of class-switched memory B cells, Celiac disease, Decreased pr... OMIM:619375
Dextrocardia, Abnormality of the spleen, Abnormality of the ureter, Pancreatic hypoplasia, Meckel... ORPHA:1666
Feingold Syndrome
Abnormality of the spleen, Esophageal atresia, Duodenal atresia, Annular pancreas ORPHA:1305
Fanconi Anemia, Complementation Group B
Ventricular septal defect, Duodenal atresia, Esophageal atresia, Hypogonadism, Micropenis, Trache... OMIM:300514
Intrinsic Factor Deficiency
Megaloblastic erythroid hyperplasia, Increased mean corpuscular volume, Megaloblastic anemia, Mal... OMIM:261000
Burkitt Lymphoma
Abnormality of the spleen, Abnormality of the ovary, Abnormality of the lymph nodes, Abnormality ... ORPHA:543
Persistent Mullerian Duct Syndrome, Types I And Ii
Male infertility OMIM:261550
Visceral Myopathy 2
Dysphagia, Rectal prolapse, Megaduodenum, Intestinal pseudo-obstruction, Megacystis, Volvulus, Es... OMIM:619350
Progressive Familial Intrahepatic Cholestasis
Hepatomegaly, Malabsorption, Splenomegaly, Cholestasis, Jaundice ORPHA:172
Fryns Syndrome
Hypospadias, Hydronephrosis, Cleft palate, High palate, Duodenal atresia, Aganglionic megacolon, ... ORPHA:2059
Tyrosinemia Type 1
Hepatomegaly, Generalized aminoaciduria, Hepatocellular carcinoma, Splenomegaly ORPHA:882
Hemochromatosis, Type 2B
Hepatomegaly, Secondary amenorrhea, Hepatic fibrosis, Anemia, Cardiomyopathy, Splenomegaly, Cirrh... OMIM:613313
Hepatoportal Sclerosis
Esophageal varix, Hepatocellular carcinoma, Ascites, Leukopenia, Anemia, Gastric varix, Splenomeg... ORPHA:64743
Trigonocephaly 1
Meckel diverticulum, Long penis OMIM:190440
Spermatogenic Failure 6
Male infertility, Decreased acrosin in sperm head, Globozoospermia OMIM:102530
Hemochromatosis, Type 2A
Dilated cardiomyopathy, Hepatomegaly, Infertility, Amenorrhea, Azoospermia, Hypogonadotropic hypo... OMIM:602390
Pearson Marrow-Pancreas Syndrome
Renal Fanconi syndrome, Refractory sideroblastic anemia, Malabsorption, Diabetes mellitus, Type I... OMIM:557000
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism
Jaundice, Nonspherocytic hemolytic anemia, Elevated urinary delta-aminolevulinic acid, Splenomegaly OMIM:206400
Serkal Syndrome
Hypospadias, Ventricular septal defect, Abnormal penis morphology, Sex reversal, Malrotation of s... ORPHA:139466
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Hepatomegaly, Esophageal varix, Pancreatic cysts, Hepatic cysts, Tubulointerstitial fibrosis, Ren... OMIM:263200
Spermatogenic Failure, X-Linked, 2
Testicular atrophy, Male infertility, Azoospermia OMIM:309120
Immunodeficiency 84
Perianal abscess, B lymphocytopenia, Splenomegaly OMIM:619437
Wolfram Syndrome 1
Testicular atrophy, Hydronephrosis, Dysphagia, Diabetes insipidus, Megaloblastic anemia, Cardiomy... OMIM:222300
Glycoprotein Storage Disease
Splenomegaly OMIM:232900
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Pulmonary lymphangiectasia, Hepatomegaly, Hydronephrosis, High palate, Ventricular septal defect,... ORPHA:1655
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Pulmonary lymphangiectasia, Hepatomegaly, Hydronephrosis, High palate, Cleft palate, Ventricular ... OMIM:235255
Pyloric Atresia
Congenital pyloric atresia OMIM:265950
Coproporphyria, Hereditary
Hepatomegaly, Increased fecal coproporphyrin 3, Splenomegaly, Increased urinary porphobilinogen, ... OMIM:121300
Acrocephalopolydactylous Dysplasia
Cystic renal dysplasia, Hypoplastic colon, Hepatomegaly, Hepatic fibrosis, Ascites, Enlarged kidn... OMIM:200995
Portal Hypertension, Noncirrhotic, 1
Hepatomegaly, Portal hypertension, Esophageal varix, Splenomegaly OMIM:617068
Chronic Intestinal Pseudoobstruction
Pyloric stenosis, Abnormal intestine morphology, Abnormal platelet morphology, Intestinal malrota... ORPHA:2978
Bronchogenic Cyst
Dysphagia, Abnormality of the peritoneum, Abnormal stomach morphology, Abnormal esophagus morphol... ORPHA:2357
Mirror Polydactyly-Vertebral Segmentation-Limbs Defects Syndrome
Aplasia of the thymus, Duodenal atresia ORPHA:3004
Isolated Follicle Stimulating Hormone Deficiency
Testicular atrophy, Oligospermia, Abnormal sperm morphology, Oligomenorrhea, Azoospermia, Hypogon... ORPHA:52901
Peutz-Jeghers Syndrome
Abnormality of the ureter, Rectal prolapse, Stomach cancer, Gastrointestinal infarctions, Neoplas... ORPHA:2869
Mungan Syndrome
Renal hypoplasia, Megaduodenum, Intestinal pseudo-obstruction, Perimembranous ventricular septal ... OMIM:611376
Congenital Disorder Of Glycosylation, Type Ib
Hepatomegaly, Lymphangiectasis, Villous atrophy, Hepatic fibrosis, Hyperinsulinemic hypoglycemia,... OMIM:602579
Secondary Short Bowel Syndrome
Central hypothyroidism, Aganglionic megacolon, Villous atrophy, Abnormality of the small intestin... ORPHA:95427
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked
Pyloric stenosis, Hydronephrosis, Increased mean platelet volume, Intestinal pseudo-obstruction, ... OMIM:300048
Congenital Disorder Of Glycosylation, Type Ik
Hypogonadism, Hepatomegaly, Cardiomyopathy, Splenomegaly OMIM:608540
Cholestasis-Lymphedema Syndrome
Hepatomegaly, Malabsorption, Splenomegaly, Cirrhosis, Neonatal cholestatic liver disease, Jaundice OMIM:214900
Hypereosinophilic Syndrome, Idiopathic
Hepatomegaly, Endocardial fibrosis, Restrictive cardiomyopathy, Splenomegaly, Myeloproliferative ... OMIM:607685
Immunodeficiency 31C
Abnormal intestine morphology, Villous atrophy, Diabetes mellitus, Hypothyroidism, Lymphopenia, D... OMIM:614162
Craniofacial Dyssynostosis With Short Stature
Hypospadias, Horseshoe kidney, Pyloric stenosis, Ventricular septal defect, Cryptorchidism OMIM:218350
Isochromosomy Yq
Male infertility, Azoospermia ORPHA:98798
Anemia, Hypochromic Microcytic, With Iron Overload 2
Hepatomegaly, Hypochromia, Azoospermia, Anemia, Splenomegaly, Hypogonadism, Poikilocytosis, Decre... OMIM:615234
Immunodeficiency 76
B lymphocytopenia, Lymphadenopathy, T lymphocytopenia, Splenomegaly, Lymphopenia, Colitis OMIM:619164
Cholestasis, Progressive Familial Intrahepatic, 3
Hepatomegaly, Portal fibrosis, Bile duct proliferation, Malabsorption, Splenomegaly, Cirrhosis, I... OMIM:602347
Ornithine Transcarbamylase Deficiency
Pyloric stenosis, Aminoaciduria, Splenomegaly ORPHA:664
Dubin-Johnson Syndrome
Hepatomegaly, Abnormal gastric mucosa morphology, Abnormality of the liver, Abnormal urinary colo... ORPHA:234
Autoinflammatory Syndrome, Familial, Behcet-Like
Hemolytic anemia, Lymphopenia, Ileal ulcer, Thrombocytopenia, Genital ulcers, Colitis OMIM:616744
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull
Testicular atrophy, Intestinal malrotation OMIM:601163
Pfapa Syndrome
Lymphadenopathy, Hepatomegaly, Malabsorption, Splenomegaly ORPHA:42642
Thoraco-Abdominal Enteric Duplication
Dextrocardia, Hepatomegaly, Duodenal stenosis, Abnormal tricuspid valve morphology, Intestinal ma... ORPHA:1759
Inflammatory Bowel Disease (Crohn Disease) 30
Abnormal intestine morphology, Esophagitis, Duodenitis, Gastritis, Pancolitis, Protein-losing ent... OMIM:619079
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia
Testicular atrophy, High palate, Azoospermia, Hypogonadotropic hypogonadism, Decreased circulatin... OMIM:308700
Harrod Syndrome
Hypospadias, Pyloric stenosis, High, narrow palate, High palate, Aganglionic megacolon, External ... OMIM:601095
Kallmann Syndrome With Spastic Paraplegia
Testicular atrophy, High palate, Hypogonadotropic hypogonadism, Decreased circulating follicle st... OMIM:308750
Symptomatic Form Of Hemochromatosis Type 1
Testicular atrophy, Hepatomegaly, Infertility, Cholangiocarcinoma, Hepatocellular carcinoma, Amen... ORPHA:465508
Cholesteryl Ester Storage Disease
Hepatomegaly, Esophageal varix, Splenomegaly, Cirrhosis, Adrenal calcification, Jaundice ORPHA:75234
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Hypospadias, Bicuspid aortic valve, Cleft palate, Duodenal atresia, Dysplastic tricuspid valve, P... OMIM:265380
Colorectal Cancer
Hereditary nonpolyposis colorectal carcinoma, Uterine leiomyosarcoma, Neoplasm of the stomach OMIM:114500
Mitochondrial Complex Iv Deficiency, Nuclear Type 19
Protein-losing enteropathy, Lacticaciduria OMIM:619063
Fryns Syndrome
Hypospadias, Ectopic pancreatic tissue, Ureteral duplication, Cleft palate, Hydronephrosis, Duode... OMIM:229850
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Hepatomegaly, Anemia, Persistence of hemoglobin F, Splenomegaly ORPHA:46532
Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency
Esophageal varix, Portal fibrosis, Splenomegaly, Abnormal erythrocyte enzyme level, Hepatic fibro... ORPHA:370
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Acute lymphoblastic leukemia, Neutropenia, Hepatocellular carcinoma, Abnormal renal physiology, A... ORPHA:158057
Neonatal Severe Primary Hyperparathyroidism
Hepatomegaly, Splenomegaly, Abnormal calcium-phosphate regulating hormone level, Abnormality of t... ORPHA:417
Attenuated Familial Adenomatous Polyposis
Colorectal polyposis, Rectal polyposis, Neoplasm of the stomach, Adenomatous colonic polyposis, U... ORPHA:220460
Nephrotic syndrome, Abnormal heart morphology, Cardiomyopathy, Renal insufficiency, Abnormality o... ORPHA:79327
Heterotaxy, Visceral, 5, Autosomal
Dextrocardia, Renal hypoplasia, Ureteral duplication, Abdominal situs inversus, Abdominal situs a... OMIM:270100
Nk-Cell Enteropathy
Intestinal polyp, Duodenal ulcer, Gastric ulcer, Abnormal gastric mucosa morphology, Increased T ... ORPHA:263665
Familial Melanoma
Abnormality of the lymphatic system, Neoplasm of the pancreas, Neoplasm of the stomach ORPHA:618
Bone Marrow Failure Syndrome 5
Testicular atrophy, Pure red cell aplasia, Anemia, Hypogonadism OMIM:618165
Diarrhea 2, With Microvillus Atrophy
Abnormal intestine morphology, Villous atrophy OMIM:251850
Spinal And Bulbar Muscular Atrophy, X-Linked 1
Testicular atrophy, Dysphagia, Decreased fertility OMIM:313200
Microform Holoprosencephaly
Cleft palate, Maternal diabetes, Duodenal atresia, Ambiguous genitalia, Panhypopituitarism, Tetra... ORPHA:280200
Feingold Syndrome Type 1
Horseshoe kidney, Hydronephrosis, Tricuspid atresia, Duodenal atresia, Tricuspid stenosis, Abnorm... ORPHA:391641
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Positive
Lymphadenopathy, Hepatomegaly, T lymphocytopenia, Splenomegaly OMIM:608971
Microgastria-Limb Reduction Defect Syndrome
Horseshoe kidney, Perineal fistula, Microgastria, Abnormality of the spleen, Hepatomegaly, Truncu... ORPHA:2538
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Lymphadenopathy, Anemia, Splenomegaly, Hepatosplenomegaly, Thrombocytopenia, Colitis, Hemophagocy... OMIM:613101
Oculoskeletodental Syndrome
Hepatomegaly, Mucopolysacchariduria, Macroglossia, Splenomegaly, Cryptorchidism, Hypothyroidism, ... OMIM:618440
Lymphoproliferative Syndrome, X-Linked, 2
Hepatomegaly, Inflammation of the large intestine, Hepatitis, Splenomegaly, Aplastic anemia, Panc... OMIM:300635
Congenital Short Bowel Syndrome
Congenital shortened small intestine, Abnormal peristalsis, Intestinal malrotation, Decreased int... OMIM:615237
Wolman Disease
Hepatomegaly, Adrenal insufficiency, Esophageal varix, Ascites, Anemia, Bone-marrow foam cells, S... ORPHA:75233
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Hepatomegaly, Hydronephrosis, High palate, Cleft palate, Neutropenia, Leukopenia, Monocytosis, Hy... OMIM:612541
Msh3-Related Attenuated Familial Adenomatous Polyposis
Colorectal polyposis, Juvenile gastrointestinal polyposis, Neoplasm of the rectum, Stomach cancer... ORPHA:480536
Lethal Hemolytic Anemia-Genital Anomalies Syndrome
Hypospadias, Abnormality of the ureter, Ascites, Anemia, Splenomegaly, Hypoplasia of penis ORPHA:1046
Chronic Diarrhea Due To Glucoamylase Deficiency
Abnormal small intestinal mucosa morphology, Malabsorption, Decreased small intestinal mucosa lac... ORPHA:103907
Hemoglobin D Disease
Reduced alpha/beta synthesis ratio, Imbalanced hemoglobin synthesis, Sickled erythrocytes, Anemia... ORPHA:90039
Familial Male-Limited Precocious Puberty
Oligospermia, Male infertility, Long penis ORPHA:3000
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase
Recurrent pancreatitis, Splenomegaly OMIM:118830
Infantile Sialic Acid Storage Disease
Hepatomegaly, High palate, Nephrotic syndrome, Ascites, Vacuolated lymphocytes, Cardiomegaly, Spl... OMIM:269920
Disorder Of Bile Acid Synthesis
Abnormality of the liver, Biliary tract abnormality, Cholestasis, Fat malabsorption ORPHA:79168
Trimethylaminuria, Neutropenia, Anemia, Splenomegaly OMIM:602079
Distal Monosomy 12Q
Pyloric stenosis, High, narrow palate, Hydronephrosis, Unilateral cryptorchidism, Duodenal atresi... ORPHA:96149
Hennekam Lymphangiectasia-Lymphedema Syndrome 3
Protein-losing enteropathy, Hydrocele testis OMIM:618154
Pancreatitis, Hereditary
Pancreatic calcification, Pancreatic pseudocyst, Pancreatitis, Steatorrhea, Diabetes mellitus, Ex... OMIM:167800
Pancreatic Colipase Deficiency
Megaloblastic anemia, Cholelithiasis, Steatorrhea, Exocrine pancreatic insufficiency, Fat malabso... ORPHA:309108
Hemoglobin H Disease
Hepatomegaly, Reduced alpha/beta synthesis ratio, HbH hemoglobin, Splenomegaly, Hemolytic anemia OMIM:613978
Cholestasis, Progressive Familial Intrahepatic, 1
Hepatomegaly, Cholelithiasis, Splenomegaly, Cirrhosis, Intrahepatic cholestasis with episodic jau... OMIM:211600
Stromme Syndrome
Bilateral renal hypoplasia, Hydronephrosis, Cleft palate, Duodenal atresia, Jejunal atresia, Inte... OMIM:243605
Congenital Contractural Arachnodactyly
High palate, Mitral valve prolapse, Duodenal atresia, Intestinal malrotation, Tracheoesophageal f... ORPHA:115
Microcephalic Primordial Dwarfism, Montreal Type
Cryptorchidism, Congenital pyloric atresia ORPHA:2617
Cardiac-Urogenital Syndrome
Patent urachus, Dextrocardia, Aplasia of the uterus, Ventricular septal defect, Bifid scrotum, Dy... OMIM:618280
Budd-Chiari Syndrome
Hepatomegaly, Gastrointestinal infarctions, Esophageal varix, Ascites, Peritonitis, Malabsorption... ORPHA:131
Hardikar Syndrome
Cholangitis, Esophageal varix, Decreased serum insulin-like growth factor 1, Intrahepatic bile du... OMIM:301068
Dyskeratosis Congenita, Autosomal Recessive 2
Testicular atrophy, Bone marrow hypocellularity, Cirrhosis, Pancytopenia, Thrombocytopenia OMIM:613987
Feingold Syndrome 1
High palate, Duodenal atresia, Asplenia, Annular pancreas, Esophageal atresia, Accessory spleen, ... OMIM:164280
Galactosemia Iii
Hepatomegaly, Splenomegaly, Aminoaciduria, Galactosuria, Jaundice OMIM:230350
Anemia, Congenital Dyserythropoietic, Type Iv
Hypertrophic cardiomyopathy, Hepatomegaly, Erythroid hyperplasia, Anemia, Splenomegaly, Reticuloc... OMIM:613673
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Nephrotic syndrome, Lymphadenopathy, Lymphadenitis, Splenomegaly, Crohn's disease, Perianal absce... OMIM:618935
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease
Hypospadias, Horseshoe kidney, Renal Fanconi syndrome, Pyloric stenosis, Abnormality of endocrine... ORPHA:93111
Cronkhite-Canada Syndrome
Hepatomegaly, Stomach cancer, Gastrointestinal carcinoma, Anemia, Furrowed tongue, Malabsorption,... ORPHA:2930
Diarrhea 7, Protein-Losing Enteropathy Type
Protein-losing enteropathy, Villous atrophy OMIM:615863
Oculogastrointestinal Muscular Dystrophy
Abnormal gastric mucosa morphology, Intestinal pseudo-obstruction, Abnormal mitral valve morpholo... ORPHA:1876
Cholestasis, Progressive Familial Intrahepatic, 2
Hepatomegaly, Hepatocellular carcinoma, Splenomegaly, Cirrhosis, Intrahepatic cholestasis, Interm... OMIM:601847
Cholestasis-Lymphedema Syndrome
Hepatomegaly, Acholic stools, Biliary tract abnormality, Abnormality of urine homeostasis, Abnorm... ORPHA:1414
Intellectual Disability-Hypotonia-Brachycephaly-Pyloric Stenosis-Cryptorchidism Syndrome
Pyloric stenosis, Bilateral cryptorchidism, High palate ORPHA:314575
Macroglossia, Abnormality of the liver, Increased circulating androgen concentration, Protein-los... ORPHA:79320
Fanconi Anemia, Complementation Group D2
Horseshoe kidney, Neutropenia, Thrombocytopenia, Annular pancreas, Leukemia, Pelvic kidney, Abnor... OMIM:227646
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects
Duodenal atresia, Muscular ventricular septal defect, Esophageal atresia, Tracheoesophageal fistu... OMIM:619227
Jacobsen Syndrome
Pyloric stenosis, Hydronephrosis, Ventricular septal defect, Ectopic anus, Duodenal atresia, Annu... ORPHA:2308
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Lymphadenopathy, Hepatitis, Splenomegaly, Autoimmune thrombocytopenia, Lymphopenia, Hemolytic ane... ORPHA:444463
Peroxisome Biogenesis Disorder 5A (Zellweger)
Hepatomegaly, Cleft palate, Abnormal heart morphology, Renal cyst, Intrahepatic biliary dysgenesi... OMIM:614866
Arthrogryposis, Perthes Disease, And Upward Gaze Palsy
Pyloric stenosis, Ventricular septal defect, Atrial septal defect, Pulmonic stenosis OMIM:614262
Congenital Tracheal Stenosis
Fetal ascites, Ventricular septal defect, Abnormality of the ureter, Meckel diverticulum, Duodena... ORPHA:141127
Ciliary Dyskinesia, Primary, 9
Situs inversus totalis, Male infertility OMIM:612444
Galactose Epimerase Deficiency
Jaundice, Hepatomegaly, Aminoaciduria, Splenomegaly ORPHA:79238
Spinocerebellar Ataxia Type 32
Testicular atrophy, Male infertility, Azoospermia ORPHA:276183
Portal Hypertension, Noncirrhotic, 2
Hepatomegaly, Esophageal varix, Hepatocellular carcinoma, Ascites, Nodular regenerative hyperplas... OMIM:619463
Hepatomegaly, Hepatic fibrosis, Hyperinsulinemic hypoglycemia, Gastrointestinal hemorrhage, Hypot... ORPHA:79319
Proteasome-Associated Autoinflammatory Syndrome 5
Hepatomegaly, Splenomegaly OMIM:619175
Nephronophthisis 19
Hepatomegaly, Hepatic fibrosis, Bile duct proliferation, Nephronophthisis, Stage 5 chronic kidney... OMIM:616217
Myocarditis, Abnormality of the small intestine, Abnormal large intestine morphology, Pericarditi... ORPHA:801
Mu-Heavy Chain Disease
Hepatomegaly, Abnormal B cell count, Lymphadenopathy, Bence Jones Proteinuria, Anemia, Splenomega... ORPHA:100024
Congenital Bile Acid Synthesis Defect Type 3
Bile duct proliferation, Cirrhosis, Hepatosplenomegaly, Cholestasis, Fat malabsorption, Jaundice ORPHA:79302
Diarrhea 9
Villous atrophy OMIM:618168
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Pancytopenia, Hypersplenism, Decreased helper T cell proportion, Splenomegaly OMIM:183350
Hypertrophic cardiomyopathy, Hepatomegaly, Hypogonadotropic hypogonadism, Hepatitis, Abnormal hem... ORPHA:848
Proprotein Convertase 1/3 Deficiency
Villous atrophy, Hypogonadotropic hypogonadism, Malabsorption, Primary amenorrhea, Decreased circ... OMIM:600955
Systemic Sclerosis
Myocarditis, Dysphagia, Abnormality of the small intestine, Abnormal large intestine morphology, ... ORPHA:90291
Bile Acid Malabsorption, Primary, 1
Steatorrhea, Increased fecal bile acid, Fat malabsorption OMIM:613291
Eosinophilic Gastroenteritis
Leukocytosis, Dysphagia, Ascites, Anemia, Malabsorption, Steatorrhea, Abnormality of the gastroin... ORPHA:2070
Zollinger-Ellison Syndrome
Duodenal ulcer, Increased circulating cortisol level, Gastrointestinal hemorrhage, Pituitary cort... ORPHA:913
Amyloidosis, Familial Visceral
Hepatomegaly, Nephrotic syndrome, Hematuria, Splenomegaly, Cholestasis, Nephropathy, Proteinuria OMIM:105200
Heterotaxy, Visceral, 10, Autosomal, With Male Infertility
Dextrocardia, Situs inversus totalis, Male infertility OMIM:619607
Townes-Brocks Syndrome 1
Hypospadias, Renal hypoplasia, Urethral valve, Ventricular septal defect, Bifid scrotum, Duodenal... OMIM:107480
Zellweger Syndrome
Hypospadias, Pyloric stenosis, Hydronephrosis, High palate, Hepatomegaly, Ventricular septal defe... ORPHA:912
Miller-Dieker Lissencephaly Syndrome
Cleft palate, Duodenal atresia, Abnormal heart morphology, Pelvic kidney, Cryptorchidism OMIM:247200
Lysosomal Acid Lipase Deficiency
Hepatomegaly, Adrenal insufficiency, Increased hepatic echogenicity, Esophageal varix, Hepatic fi... OMIM:278000
Myotonic Dystrophy 1
Testicular atrophy, Dysphagia, Cholelithiasis, Hypogonadism OMIM:160900
Mosaic Variegated Aneuploidy Syndrome
Acute lymphoblastic leukemia, Cleft palate, Stomach cancer, Duodenal atresia, Ascites, Subvalvula... ORPHA:1052
Autosomal Recessive Polycystic Kidney Disease
Abnormality of the intrahepatic bile duct, Cholangitis, Esophageal varix, Cholangiocarcinoma, Spl... ORPHA:731
Gaucher Disease Type 2
Hepatomegaly, Dysphagia, Splenomegaly ORPHA:77260
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Horseshoe kidney, Hydronephrosis, Rectal prolapse, Ventricular septal defect, Pericardial effusio... OMIM:235510
Polycystic Kidney Disease 1 With Or Without Polycystic Liver Disease
Mitral valve prolapse, Hepatic cysts, Colonic diverticula, Polycystic kidney dysplasia, Renal ins... OMIM:173900
Refractory Celiac Disease
Jejunitis, Macrocytic anemia, Villous atrophy, Normocytic anemia, Iron deficiency anemia, Malabso... ORPHA:398063
Meckel Syndrome
Ureteral duplication, Cleft palate, True hermaphroditism, Pancreatic cysts, Asplenia, Urethral at... ORPHA:564
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism
Hepatomegaly, Pancreatic hypoplasia, Hepatic fibrosis, Pancreatic cysts, Splenic cyst, Congenital... OMIM:610199
Bile Acid Synthesis Defect, Congenital, 1
Hepatomegaly, Giant cell hepatitis, Acholic stools, Splenomegaly, Cirrhosis, Steatorrhea, Intrahe... OMIM:607765
Diarrhea 12, With Microvillus Atrophy
Microvillus inclusions, Villous atrophy, Microvillar PAS-positive secretory granules OMIM:619445
Esophageal Atresia
Pyloric stenosis, Dysphagia, Cleft palate, Maternal diabetes, Duodenal atresia, Morphological abn... ORPHA:1199
Syndromic Diarrhea
Bicuspid aortic valve, Hypoplasia of the thymus, Splenomegaly, Gastritis, Ventricular septal defe... ORPHA:84064
Beta-Thalassemia Intermedia
Adrenal insufficiency, Splenomegaly, Hepatosplenomegaly, Diabetes mellitus, Anemia of inadequate ... ORPHA:231222
Autoimmune Lymphoproliferative Syndrome, Type Iii
Increased B cell count, Hepatomegaly, Decreased proportion of class-switched memory B cells, Medi... OMIM:615559
Autoinflammation With Infantile Enterocolitis
Villous atrophy, Anemia, Splenomegaly, Reduced natural killer cell count, Enterocolitis, Pancytop... OMIM:616050
Dyrk1A-Related Intellectual Disability Syndrome
Hypospadias, Pyloric stenosis, Hydronephrosis, Ventricular septal defect, Duodenal atresia, Pelvi... ORPHA:464306
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis
Hepatomegaly, Anemia, Splenomegaly, Steatorrhea, Anemia of inadequate production, Exocrine pancre... OMIM:612714
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Hepatomegaly, Myoglobinuria, Dysmenorrhea, Portal fibrosis, Esophageal varix, Hepatic fibrosis, O... ORPHA:264580
Campomelia, Cumming Type
Hepatomegaly, Abnormal intestine morphology, Cleft palate, Pancreatic cysts, Abnormality of the p... ORPHA:1318
Beckwith-Wiedemann Syndrome
Cleft palate, Congenital megaureter, Splenomegaly, Nephropathy, Hypercalciuria, Hypertrophic card... ORPHA:116
Sea-Blue Histiocyte Disease
Cirrhosis, Thrombocytopenia, Sea-blue histiocytosis, Splenomegaly OMIM:269600
Duodenal Atresia
Duodenal atresia OMIM:223400
Kennedy Disease
Testicular atrophy, Type II diabetes mellitus, Erectile dysfunction, Decreased fertility ORPHA:481
Anemia, Cholelithiasis, Abnormal hemoglobin, Splenomegaly, Hypersplenism, Microcytic anemia, Hemo... ORPHA:846
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart
Hypospadias, Ventricular septal defect, High palate, Duodenal atresia, Annular pancreas, Renal cy... OMIM:616975
Hypertriglyceridemia, Transient Infantile
Hepatic steatosis, Hepatomegaly, Hepatic fibrosis, Splenomegaly OMIM:614480
Diarrhea 11, Malabsorptive, Congenital
Villous atrophy OMIM:618662
Pearson Syndrome
Adrenal insufficiency, Neutropenia, Lacticaciduria, Splenomegaly, Steatorrhea, Diabetes mellitus,... ORPHA:699
8P11.2 Deletion Syndrome
Hemolytic anemia, High palate, Mitral valve prolapse, Azoospermia, Hypogonadotropic hypogonadism,... ORPHA:251066
Diarrhea 5, With Tufting Enteropathy, Congenital
Villous atrophy OMIM:613217
Ulnar-Mammary Syndrome
Pyloric stenosis, Renal hypoplasia, Ventricular septal defect, Hypoplastic nipples, Ectopic anus,... ORPHA:3138
Bohring-Opitz Syndrome
Ventricular septal defect, Cleft palate, Hyperechogenic pancreas, Intestinal malrotation, Narrow ... OMIM:605039
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Eosinophilia, Villous atrophy, Neutropenia, Lymphadenopathy, Coombs-positive hemolytic anemia, He... OMIM:304790
Metachromatic Leukodystrophy
Neoplasm of the gallbladder, Hemobilia, Abnormal gallbladder morphology, Abnormal stomach morphol... ORPHA:512
Igg4-Related Submandibular Gland Disease
Abnormal salivary gland morphology, Cholangitis, Prostatitis, Xerostomia, Abnormal pancreas morph... ORPHA:449432
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Hypospadias, Hydronephrosis, Ventricular septal defect, Duodenal atresia, Pelvic kidney, Posterio... ORPHA:464311
Juvenile Polyposis Of Infancy
High, narrow palate, Freckled genitalia, Rectal prolapse, Adenomatous colonic polyposis, Abnormal... ORPHA:79076
Congenital Tufting Enteropathy
Villous atrophy, Malabsorption, Anal atresia, Abnormal small intestinal mucosa morphology, Choles... ORPHA:92050
Marden-Walker Syndrome
Hypospadias, Renal hypoplasia, Pyloric stenosis, Cleft palate, High palate, High, narrow palate, ... OMIM:248700
Ciliary Dyskinesia, Primary, 18
Situs inversus totalis, Male infertility, Immotile sperm OMIM:614874
Hypospadias, Horseshoe kidney, Ureteral duplication, Bifid scrotum, Abnormal heart morphology, Ec... ORPHA:227
Adams-Oliver Syndrome 5
Esophageal varix, Right ventricular hypertrophy, Pulmonic stenosis, Splenomegaly, Hypersplenism, ... OMIM:616028
Pericardial And Diaphragmatic Defect
Bicuspid aortic valve, Meckel diverticulum, Morphological abnormality of the gastrointestinal tra... ORPHA:2847
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Hepatomegaly, Neutropenia, Leukopenia, Anemia, Splenomegaly, Extramedullary hematopoiesis, Thromb... OMIM:615285
Congenital Disorder Of Glycosylation, Type Iil
Hepatomegaly, Ventricular septal defect, Inflammation of the large intestine, Esophageal varix, P... OMIM:614576
Spinocerebellar Ataxia 32
Testicular atrophy, Infertility, Azoospermia OMIM:613909
Familial Mediterranean Fever
Gastrointestinal infarctions, Pericarditis, Nephrotic syndrome, Nephrocalcinosis, Peritonitis, Ly... ORPHA:342
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Ventricular septal defect, Cleft palate, Hepatic fibrosis, Hamartoma of tongue, Microglossia, Int... OMIM:263520
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy
Small bowel diverticula, Jejunoileal ulceration, Fat malabsorption OMIM:221400
Meckel Syndrome, Type 7
Pancreatic cysts, Right ventricular hypertrophy, Bile duct proliferation, Situs inversus totalis,... OMIM:267010
Congenital Pulmonary Lymphangiectasia
Hepatomegaly, Chylopericardium, Ascites, Pulmonic stenosis, Splenomegaly, Gastroesophageal reflux ORPHA:2414
Diarrhea 10, Protein-Losing Enteropathy Type
Pericardial effusion, Ascites, Hypothyroidism, Cryptorchidism, Polyuria, Protein-losing enteropat... OMIM:618183
Bile Acid Synthesis Defect, Congenital, 3
Hepatomegaly, Acholic stools, Hepatitis, Splenomegaly, Cirrhosis, Steatorrhea, Intrahepatic chole... OMIM:613812
Caroli Disease
Cholangitis, Hepatomegaly, Leukocytosis, Esophageal varix, Cholangiocarcinoma, Hepatic fibrosis, ... ORPHA:53035
Hyperbilirubinemia, Shunt, Primary
Hepatomegaly, Erythroid hyperplasia, Splenomegaly, Reticulocytosis, Anemia of inadequate producti... OMIM:237800
Erythroleukemia, Familial, Susceptibility To
Hepatomegaly, Erythroid hyperplasia, Leukemia, Anemia, Splenomegaly, Acute myeloid leukemia, Thro... OMIM:133180
Ménétrier Disease
Stomach cancer, Helicobacter pylori infection, Abnormal gastric mucosa morphology, Hypochromic mi... ORPHA:2494
Beta-Thalassemia, Dominant Inclusion Body Type
Hepatomegaly, Persistence of hemoglobin F, Splenomegaly, Microcytic anemia, Erythrocyte inclusion... OMIM:603902
Diverticulosis Of Bowel, Hernia, And Retinal Detachment
Colonic diverticula, Small bowel diverticula, Bladder diverticulum OMIM:223330
Acrodermatitis Enteropathica, Zinc-Deficiency Type
Hepatomegaly, Splenomegaly, Hypogonadism, Decreased testicular size, Decreased serum testosterone... OMIM:201100
Griscelli Syndrome
Pyloric stenosis, Hepatomegaly, Ascites, Leukopenia, Lymphadenopathy, Hepatitis, Bone marrow hypo... ORPHA:381
Lowry-Maclean Syndrome
Hypospadias, High, narrow palate, Midgut malrotation, Cleft palate, Pyloric stenosis, Abnormality... ORPHA:2409
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Hepatomegaly, Neutropenia, Anemia, Cardiomyopathy, Pancreatitis, Splenomegaly, Thrombocytopenia, ... ORPHA:79312
Atelosteogenesis Type I
Abnormal pancreatic duct morphology, Cleft palate, Multiple renal cysts, Malrotation of colon ORPHA:1190
Persistent Polyclonal B-Cell Lymphocytosis
Hepatomegaly, Lymphocytosis, Splenomegaly OMIM:606445
Hemophagocytic Lymphohistiocytosis, Familial, 4
Hepatomegaly, Neutropenia, Lymphadenopathy, Anemia, Splenomegaly, Thrombocytopenia, Hemophagocyto... OMIM:603552
Hurler-Scheie Syndrome
Hepatomegaly, Abnormality of the tonsils, Cardiomyopathy, Splenomegaly, Abnormal heart valve morp... ORPHA:93476
Congenital Bile Acid Synthesis Defect Type 2
Abnormality of the intrahepatic bile duct, Hepatomegaly, Giant cell hepatitis, Renal cyst, Dark u... ORPHA:79303
Primary Intestinal Lymphangiectasia
Pericardial effusion, Ascites, Increased stool alpha1-antitrypsin concentration, Functional abnor... ORPHA:90362
Diets-Jongmans Syndrome
Hypospadias, Cryptorchidism, Duodenal atresia, Ventricular septal defect OMIM:618846
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Thrombocytopenia, Anemia, Abnormal hemoglobin, Splenomegaly ORPHA:231393
Jacobsen Syndrome
Hypospadias, Pyloric stenosis, Ventricular septal defect, Annular pancreas, Labial hypoplasia, At... OMIM:147791
Trisomy 8P
Hydronephrosis, Cleft palate, Nephrocalcinosis, Annular pancreas, Dysplastic aortic valve, Aplasi... ORPHA:264450
American Trypanosomiasis
Myocarditis, Hepatomegaly, Aganglionic megacolon, Lymphadenopathy, Cardiomyopathy, Splenomegaly, ... ORPHA:3386
Shwachman-Diamond Syndrome 2
Hepatomegaly, High palate, Neutropenia, Normocytic anemia, Thrombocytopenia, Hyperechogenic pancr... OMIM:617941
Vascular Hyalinosis
Protein-losing enteropathy, Malabsorption, Hematochezia OMIM:277175
Ring Chromosome Y Syndrome
Hypospadias, Streak ovary, Azoospermia, Urogenital sinus anomaly, Female infertility, Abnormal sp... ORPHA:261529
Meacham Syndrome
Hydrometrocolpos, Horseshoe kidney, Abnormality of the spleen, Abnormal vagina morphology, Ventri... ORPHA:3097
Campomelia, Cumming Type
Polycystic kidney dysplasia, Polysplenia, Pancreatic cysts, Polycystic liver disease OMIM:211890
Generalized Juvenile Polyposis/Juvenile Polyposis Coli
Rectal polyposis, Adenomatous colonic polyposis, Multiple gastric polyps, Anemia, Duodenal polypo... ORPHA:329971
Meier-Gorlin Syndrome 7
Hypospadias, Complete atrioventricular canal defect, Ventricular septal defect, Cleft palate, Hig... OMIM:617063
Neuraminidase Deficiency
Hepatomegaly, Ascites, Vacuolated lymphocytes, Urinary excretion of sialylated oligosaccharides, ... OMIM:256550
Splenoportal Vascular Anomalies
Anomalous splenoportal venous system, Hepatic fibrosis, Ascites, Splenomegaly, Cirrhosis, Diabete... OMIM:271500
Tyrosinemia, Type I
Hypertrophic cardiomyopathy, Renal Fanconi syndrome, Hepatomegaly, Hepatocellular carcinoma, Neph... OMIM:276700
Coach Syndrome 1
Hepatomegaly, Esophageal varix, Hepatic fibrosis, Nephronophthisis, Multiple small medullary rena... OMIM:216360
Nephronophthisis 13
Renal hypoplasia, Pancreatic cysts, Nephronophthisis, Hepatic cysts, Stage 5 chronic kidney disea... OMIM:614377
Chromosome 19Q13.11 Deletion Syndrome, Proximal
Pyloric stenosis, Hydroureter, Nephrolithiasis, Vesicoureteral reflux OMIM:617219
Chronic Granulomatous Disease
Pyloric stenosis, Hepatomegaly, Mediastinal lymphadenopathy, Malabsorption, Splenomegaly, Tracheo... ORPHA:379
Diverticulosis, Small-Intestinal
Duodenal diverticula, Jejunal diverticula, Thyroiditis, Jejunoileal diverticula, Ulcerative colitis OMIM:223320
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Hepatomegaly, Lymphadenopathy, Splenomegaly, Crohn's disease, Autoimmune thrombocytopenia, Lympho... OMIM:616100
Trichohepatoenteric Syndrome 2
Hepatomegaly, Villous atrophy, Hepatitis, Cirrhosis, Colitis OMIM:614602
Bile Acid Synthesis Defect, Congenital, 4
Hepatomegaly, Giant cell hepatitis, Prolonged neonatal jaundice, Intrahepatic cholestasis, Fat ma... OMIM:214950
Autoinflammation With Episodic Fever And Lymphadenopathy
Hepatomegaly, Lymphadenopathy, Splenomegaly, Microcytic anemia, Recurrent tonsillitis OMIM:618852
Gardner Syndrome
Adrenocortical carcinoma, Adrenocortical adenoma, Adenomatous colonic polyposis, Small intestine ... ORPHA:79665
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14
Pyloric stenosis, High palate, Cleft palate, Maturity-onset diabetes of the young, Bifid uvula, C... ORPHA:96184
Visceral Myopathy 1
Hydronephrosis, Dysphagia, Aganglionic megacolon, Megaduodenum, Urinary retention, Intestinal pse... OMIM:155310
Anemia, Congenital Dyserythropoietic, Type Ii
Cholelithiasis, Splenomegaly, Reticulocytosis, Anemia of inadequate production, Jaundice OMIM:224100
Isolated Biliary Atresia
Hepatomegaly, Acholic stools, Atretic gallbladder, Bile duct proliferation, Dark yellow urine, Sp... ORPHA:30391
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1
Hepatomegaly, Hepatic fibrosis, Hepatic steatosis, Steatorrhea, Diabetes mellitus, Hypothyroidism... OMIM:616263
Pancreatic Agenesis 2
Pancreatic hypoplasia, Steatorrhea OMIM:615935
Charge Syndrome
Cleft palate, Duodenal atresia, Dysplastic tricuspid valve, Micropenis, Overriding aorta, Ventric... OMIM:214800
Immunodeficiency 16
Coombs-positive hemolytic anemia, Pancytopenia, Splenomegaly OMIM:615593
Autoimmune Hepatitis
Inflammation of the large intestine, Hepatocellular carcinoma, Ascites, Sclerosing cholangitis, F... ORPHA:2137
Autoimmune Lymphoproliferative Syndrome, Type Iia
Increased B cell count, Hepatomegaly, Elevated proportion of CD4-negative, CD8-negative, alpha-be... OMIM:603909
Igg4-Related Thyroid Disease
Dysphagia, Goiter, Retroperitoneal fibrosis, Nodular goiter, Abnormality of the pituitary gland, ... ORPHA:64744
Pancreatic Lipase Deficiency
Steatorrhea, Fat malabsorption OMIM:614338
Transaldolase Deficiency
Hepatomegaly, Ventricular septal defect, Hepatic fibrosis, Micronodular cirrhosis, Anemia, Spleno... OMIM:606003
Juvenile Idiopathic Arthritis
Hepatomegaly, Mediastinal lymphadenopathy, Pericardial effusion, Malabsorption, Splenomegaly ORPHA:92
Ras-Associated Autoimmune Leukoproliferative Disorder
Hepatomegaly, Neutropenia, Monocytosis, Leukemia, Splenomegaly, Autoimmune thrombocytopenia, Lymp... OMIM:614470
Microvillus Inclusion Disease
Abnormal renal physiology, Villous atrophy, Abnormality of small intestinal villus morphology, Ne... ORPHA:2290
Sickle Cell Anemia
Hepatomegaly, Leukocytosis, Priapism, Hematuria, Cardiomegaly, Cholelithiasis, Splenomegaly, Incr... OMIM:603903
Mosaic Variegated Aneuploidy Syndrome 2
Ventricular septal defect, Duodenal atresia, Subvalvular aortic stenosis, Atrial septal defect, H... OMIM:614114
Gray Platelet Syndrome
Thrombocytopenia, Abnormality of the menstrual cycle, Splenomegaly ORPHA:721
Periventricular Nodular Heterotopia
Pyloric stenosis, Abnormal heart valve morphology, Gastroesophageal reflux ORPHA:98892
Kaposiform Lymphangiomatosis
Pancreatic cysts, Pericardial effusion, Abnormal lymphatic vessel morphology, Lymphangioma, Abnor... ORPHA:464329
Immunodeficiency 60 And Autoimmunity
Splenomegaly, Crohn's disease, Decreased basophil count, Decreased proportion of memory B cells, ... OMIM:618394
Cryoglobulinemic Vasculitis
Hepatomegaly, Gastrointestinal infarctions, Mediastinal lymphadenopathy, Hematuria, Splenomegaly,... ORPHA:91138
Bile Acid Synthesis Defect, Congenital, 2
Hepatomegaly, Splenomegaly, Steatorrhea, Intrahepatic cholestasis, Jaundice OMIM:235555
Duodenal ulcer, Abnormality of the ovary, Nephrolithiasis, Abnormal fallopian tube morphology, Ce... ORPHA:722
Immunodeficiency 52
Lymphadenopathy, Increased proportion of gamma-delta T cells, Coombs-positive hemolytic anemia, S... OMIM:617514
Immunodeficiency 69
Thrombocytosis, Leukocytosis, Anemia, Splenomegaly, Hepatosplenomegaly, Pancytopenia OMIM:618963
Colonic Atresia
Abdominal situs inversus, Abnormality of mesentery morphology, Duodenal stenosis, Colonic atresia... ORPHA:1198
Mast Cell Sarcoma
Hepatomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Splenomegaly, Mastocytosis ORPHA:66661
Myopathy, Centronuclear, X-Linked
Pyloric stenosis, Cryptorchidism, High palate OMIM:310400
Dominant Beta-Thalassemia
Dilated cardiomyopathy, Adrenal insufficiency, Splenomegaly, Hypersplenism, Hepatosplenomegaly, D... ORPHA:231226
1P36 Deletion Syndrome
Hypospadias, Pyloric stenosis, Abnormal intestine morphology, Dilated cardiomyopathy, Abnormality... ORPHA:1606
Apc-Related Attenuated Familial Adenomatous Polyposis
Adrenocortical carcinoma, Adrenocortical adenoma, Adenomatous colonic polyposis, Gastrointestinal... ORPHA:247806
Lipodystrophy, Congenital Generalized, Type 3
Hepatomegaly, Splenomegaly, Hepatic steatosis, Hepatosplenomegaly, Primary amenorrhea, Diabetes m... OMIM:612526
Pparg-Related Familial Partial Lipodystrophy
Hypertrophic cardiomyopathy, Hepatomegaly, Secondary amenorrhea, Maternal diabetes, Dysmenorrhea,... ORPHA:79083
Thrombocytopenia, Paris-Trousseau Type
Pyloric stenosis, Thrombocytopenia OMIM:188025
Koolen-De Vries Syndrome
Hypospadias, Pyloric stenosis, Ureteral duplication, Hydronephrosis, Cleft palate, High, narrow p... ORPHA:96169
Gastrointestinal Stromal Tumor
Dysphagia, Neoplasm of the rectum, Gastrointestinal stroma tumor, Neoplasm of the stomach, Neopla... ORPHA:44890
Muir-Torre Syndrome
Neoplasm of the stomach, Endometrial carcinoma, Adenoma sebaceum, Neoplasm of the liver, Salivary... ORPHA:587
Trisomy 18P
Pyloric stenosis, High, narrow palate, Bilateral cryptorchidism ORPHA:1715
Duodenal Ulcer Due To Antral G-Cell Hyperfunction
Duodenal ulcer, Hypergastrinemia OMIM:126840
Lesch-Nyhan Syndrome
Testicular atrophy, Dysphagia, Megaloblastic anemia, Nephrolithiasis, Hyperuricosuria OMIM:300322
Mixed Connective Tissue Disease
Myocarditis, Hepatomegaly, Pericarditis, Mediastinal lymphadenopathy, Leukopenia, Xerostomia, Lym... ORPHA:809
Multiple Endocrine Neoplasia Type 1
Duodenal ulcer, Thyroid carcinoma, Goiter, Increased circulating cortisol level, Insulinoma, Mele... ORPHA:652
Storm Syndrome
Myxomatous mitral valve degeneration, Mitral valve prolapse, Mitral valve calcification, Mitral s... OMIM:185069
Parenteral Nutrition-Associated Cholestasis
Hepatomegaly, Villous atrophy, Hepatic fibrosis, Cholelithiasis, Splenomegaly, Biliary hyperplasi... ORPHA:567983
Familial Adenomatous Polyposis
Neoplasm of the gallbladder, Neoplasm of the adrenal gland, Cholangiocarcinoma, Adenomatous colon... ORPHA:733
Gaucher Disease, Type Ii
Hepatomegaly, Dysphagia, Anemia, Splenomegaly, Thrombocytopenia OMIM:230900
Ciliary Dyskinesia, Primary, 45
Male infertility OMIM:618801
Immunodeficiency, Common Variable, 8, With Autoimmunity
Chronic neutropenia, B lymphocytopenia, Inflammation of the large intestine, Villous atrophy, Dec... OMIM:614700
Cerebral-Cerebellar-Coloboma Syndrome, X-Linked
Meckel diverticulum OMIM:300864
Congenital Rubella Syndrome
Hepatomegaly, Ventricular septal defect, Anemia, Splenomegaly, Atrial septal defect, Type I diabe... ORPHA:290
Reynolds Syndrome
Hepatomegaly, Dysphagia, Abnormal gastric mucosa morphology, Ascites, Xerostomia, Cirrhosis, Gast... ORPHA:779
Histiocytosis-Lymphadenopathy Plus Syndrome
Hepatomegaly, Ventricular septal defect, Pancreatic hypoplasia, Mitral valve prolapse, Azoospermi... OMIM:602782
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Xerostomia, Gastrointestinal carcinoma, Anemia, Malabsorption, Glossitis, Hamartomatous polyposis... OMIM:175500
Fg Syndrome Type 1
Hypospadias, Pyloric stenosis, High palate, Abnormal large intestine morphology, Mitral valve pro... ORPHA:93932
Immunodeficiency 64
Abnormal CD4:CD8 ratio, Mediastinal lymphadenopathy, Lymphadenopathy, Splenomegaly, Increased pro... OMIM:618534
Beta-Thalassemia Major
Dilated cardiomyopathy, Adrenal insufficiency, Anisopoikilocytosis, Splenomegaly, Hypersplenism, ... ORPHA:231214
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss
Hepatic fibrosis, Splenomegaly, Cholestasis, Hepatic bridging fibrosis, Jaundice OMIM:619658
Anemia, Congenital Dyserythropoietic, Type Ib
Hepatomegaly, Erythroid hyperplasia, Anemia, Splenomegaly, Anisocytosis, Poikilocytosis, Reticulo... OMIM:615631
Polycythemia Vera
Thrombocytosis, Leukocytosis, Increased red blood cell mass, Splenomegaly, Gastrointestinal hemor... OMIM:263300
Nephrotic Syndrome, Type 1
Pyloric stenosis, Congenital nephrotic syndrome, Glomerular sclerosis, Gastroesophageal reflux, H... OMIM:256300
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Hepatomegaly, Ventricular septal defect, Hepatic fibrosis, Nephronophthisis, Splenomegaly, Choles... OMIM:615630
Acquired Idiopathic Sideroblastic Anemia
Hepatomegaly, Leukocytosis, Thrombocytosis, Neutropenia, Normocytic anemia, Megaloblastic erythro... ORPHA:75564
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome
Ureteral duplication, Ventricular septal defect, Pancreatic hypoplasia, Congenital hypothyroidism... ORPHA:2255
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Hepatomegaly, Hypochromia, Type II diabetes mellitus, Elevated hepatic iron concentration, Erythr... OMIM:616860
Hemolytic anemia, Hepatomegaly, Splenomegaly, Increased urinary porphobilinogen, Reticulocytosis,... OMIM:618892
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
B lymphocytopenia, Villous atrophy, Lymphadenopathy, T lymphocytopenia, Decreased proportion of C... OMIM:606367
Autosomal Dominant Centronuclear Myopathy
Pyloric stenosis, Urinary incontinence, Spontaneous abortion, Cryptorchidism ORPHA:169189
Autosomal Dominant Polycystic Kidney Disease
Mitral valve prolapse, Pancreatic cysts, Reduced sperm motility, Pituitary growth hormone cell ad... ORPHA:730
Red Cell Phospholipid Defect With Hemolysis
Reticulocytosis, Intermittent jaundice, Splenomegaly OMIM:179700
Follicular Lymphoma
Lymphadenopathy, Mediastinal lymphadenopathy, Abnormality of the peritoneum, Splenomegaly ORPHA:545
Hemoglobin C-Beta-Thalassemia Syndrome
Microcytic anemia, Anemia, Abnormal hemoglobin, Splenomegaly ORPHA:231242
Hypercholanemia, Familial 1
Steatorrhea, Fat malabsorption OMIM:607748
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Abnormal intestine morphology, Neutropenia in presence of anti-neutropil antibodies, Hepatitis, H... ORPHA:391487
Gaucher Disease Type 1
Hepatomegaly, Pericardial effusion, Ascites, Leukopenia, Biliary tract obstruction, Hematuria, An... ORPHA:77259
Meckel Syndrome, Type 1
Cleft palate, Abnormality of the ureter, Malformation of the hepatic ductal plate, Asplenia, Bile... OMIM:249000
Familial Partial Lipodystrophy, Dunnigan Type
Hypertrophic cardiomyopathy, Hepatomegaly, Secondary amenorrhea, Dysmenorrhea, Polycystic ovaries... ORPHA:2348
Musculocontractural Ehlers-Danlos Syndrome
Horseshoe kidney, Hydronephrosis, Cleft palate, High palate, Abnormality of mesentery morphology,... ORPHA:2953
Chromosome 13Q33-Q34 Deletion Syndrome
Hypospadias, Pyloric stenosis, High palate, Bifid scrotum, Anal atresia, Left ventricular hypertr... OMIM:619148
Whim Syndrome
Neutropenia, Abnormality of the small intestine, Cervix cancer, Lymphadenitis, Parotitis, Tetralo... ORPHA:51636
Ciliary Dyskinesia, Primary, 14
Situs inversus totalis, Male infertility, Immotile sperm, Reduced sperm motility OMIM:613807
Osteootohepatoenteric Syndrome
Grade II vesicoureteral reflux, Microvesicular hepatic steatosis, Villous atrophy, Ileoileal intu... OMIM:619377
Bare Lymphocyte Syndrome, Type Ii
Cholangitis, Villous atrophy, Neutropenia, Biliary tract abnormality, Malabsorption, Viral hepati... OMIM:209920
Skeletal Dysplasia And Progressive Central Nervous System Degeneration, Lethal
Ventricular hypertrophy, Cryptorchidism, Meckel diverticulum, Patent foramen ovale OMIM:602613
Kleefstra Syndrome
Hypospadias, Pyloric stenosis, Hydronephrosis, Bicuspid aortic valve, Ventricular septal defect, ... ORPHA:261494
Heart Defects, Congenital, And Other Congenital Anomalies
Ureteral duplication, Colon perforation, Pancreatic hypoplasia, Truncus arteriosus, Ventricular s... OMIM:600001
Mucopolysaccharidosis, Type Iiic
Hepatomegaly, Dysphagia, Splenomegaly, Heparan sulfate excretion in urine, Asymmetric septal hype... OMIM:252930
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency
Hypospadias, Duodenal atresia, Pelvic kidney, Unilateral renal agenesis, Cryptorchidism, Micropha... ORPHA:468631
Tarp Syndrome
Horseshoe kidney, Hydronephrosis, Cleft palate, Tongue nodules, Glossoptosis, Atrial septal defec... ORPHA:2886
Focal Dermal Hypoplasia
Horseshoe kidney, Hydronephrosis, Ventricular septal defect, Duodenal atresia, Multicystic kidney... ORPHA:2092
Combined Immunodeficiency-Enteropathy Spectrum
Ventricular septal defect, Peritoneal abscess, Hypoplasia of the thymus, Gastrointestinal atresia... ORPHA:436252
Ehlers-Danlos Syndrome, Musculocontractural Type, 1
Hydronephrosis, High palate, Cleft palate, Nephrotic syndrome, Intestinal malrotation, Atrial sep... OMIM:601776
Immunodeficiency 27A
Leukocytosis, Enlarged mesenteric lymph node, Thrombocytosis, Lymphadenopathy, Anemia, Splenomega... OMIM:209950
Majeed Syndrome
Hepatomegaly, Leukocytosis, Hypochromic microcytic anemia, Congenital hypoplastic anemia, Malabso... ORPHA:77297
Permanent Neonatal Diabetes Mellitus-Pancreatic And Cerebellar Agenesis Syndrome
Aplasia/Hypoplasia of the pancreas, Neonatal insulin-dependent diabetes mellitus ORPHA:65288
Autoimmune Lymphoproliferative Syndrome
Hepatomegaly, Elevated proportion of CD4-negative, CD8-negative, alpha-beta regulatory T cells, F... OMIM:601859
Whipple Disease
Myocarditis, Hepatomegaly, Pericarditis, Mediastinal lymphadenopathy, Anemia, Erectile dysfunctio... ORPHA:3452
Trichohepatoenteric Syndrome 1
Hypospadias, Hepatomegaly, Ventricular septal defect, Increased mean platelet volume, Villous atr... OMIM:222470
Mucopolysaccharidosis, Type Iiib
Hepatomegaly, Cardiomegaly, Splenomegaly, Heparan sulfate excretion in urine, Asymmetric septal h... OMIM:252920
Hemoglobin E Disease
Hypochromia, Hypochromic microcytic anemia, Increased red blood cell count, Spontaneous abortion,... ORPHA:2133
Immunodeficiency 54
Hepatomegaly, Adrenal insufficiency, Lymphadenopathy, Splenomegaly, Reduced natural killer cell c... OMIM:609981
Postaxial Acrofacial Dysostosis
Pyloric stenosis, Midgut malrotation, Cleft palate, Micropenis, Cryptorchidism, Supernumerary nipple OMIM:263750
Pyloric Stenosis, Infantile Hypertrophic, 1
Pyloric stenosis OMIM:179010
Congenital Bilateral Absence Of Vas Deferens
Oligospermia, Obstructive azoospermia, Male infertility ORPHA:48
Fanconi Anemia
Hypospadias, Cleft palate, Duodenal stenosis, Abnormality of the hypothalamus-pituitary axis, Dec... ORPHA:84
Primary Lipodystrophy
Type II diabetes mellitus, Polycystic ovaries, Pancreatitis, Menometrorrhagia, Splenomegaly, Cirr... ORPHA:90970
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Congenital hemolytic anemia, Reduced red cell pyruvate kinase level, Anemia, Splenomegaly, Anisoc... ORPHA:766
Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease
Hepatomegaly, Aplasia/Hypoplasia of the pancreas, Hyperechogenic pancreas, Abnormal liver parench... ORPHA:456312
Osteopetrosis, Autosomal Dominant 3
Anemia, Hepatomegaly, Hyperparathyroidism, Splenomegaly OMIM:618107
Holoprosencephaly 13, X-Linked
Ventricular septal defect, Cleft palate, Duodenal atresia, Double outlet right ventricle, Median ... OMIM:301043
Anemia, Congenital Dyserythropoietic, Type Ia
Erythroid hyperplasia, Splenomegaly, Anisocytosis, Poikilocytosis, Reticulocytosis, Prolonged neo... OMIM:224120
Primary Ciliary Dyskinesia
Situs inversus totalis, Abnormal heart morphology, Double outlet right ventricle, Abnormal sperm ... ORPHA:244
Aarskog-Scott Syndrome
Testicular atrophy, Cleft palate, Elevated circulating follicle stimulating hormone level, Bilate... OMIM:305400
Legionnaires Disease
Myocarditis, Pericarditis, Endocarditis, Lymphadenopathy, Hematuria, Hepatitis, Bone marrow hypoc... ORPHA:549
Spondyloepimetaphyseal Dysplasia, Krakow Type
High palate, Atrial septal defect, Annular pancreas OMIM:618162
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Hepatomegaly, Myoglobinuria, Dysmenorrhea, Hepatic fibrosis, Hepatocellular carcinoma, Oligomenor... ORPHA:79240
Mucopolysaccharidosis-Plus Syndrome
Hypertrophic cardiomyopathy, Hepatomegaly, Focal segmental glomerulosclerosis, Neutropenia, Nephr... OMIM:617303
Familial Mediterranean Fever
Hepatomegaly, Leukocytosis, Pericarditis, Nephrotic syndrome, Peritonitis, Stage 5 chronic kidney... OMIM:249100
Shwachman-Diamond Syndrome
Pancreatic hypoplasia, Neutropenia, Leukemia, Steatorrhea, Diabetes mellitus, Pancytopenia, Bone ... ORPHA:811
Proximal 16P11.2 Microdeletion Syndrome
Pyloric stenosis, Dextrocardia, Cleft palate, Abnormal aortic valve morphology, Abnormal heart mo... ORPHA:261197
Fetal Gaucher Disease
Abnormality of the spleen, Hepatomegaly, High palate, Splenomegaly, Pancytopenia, Thrombocytopenia ORPHA:85212
Mucopolysaccharidosis, Type Ii
Hepatomegaly, Intestinal pseudo-obstruction, Macroglossia, Splenomegaly, Urinary glycosaminoglyca... OMIM:309900
Junctional Epidermolysis Bullosa With Pyloric Atresia
Hydronephrosis, Urinary bladder inflammation, Congenital pyloric atresia, Hematuria, Urethral str... ORPHA:79403
Tremor-Nystagmus-Duodenal Ulcer Syndrome
Duodenal ulcer ORPHA:3350
Mucopolysaccharidosis, Type Iiid
Hepatomegaly, Dysphagia, Splenomegaly, Heparan sulfate excretion in urine, Asymmetric septal hype... OMIM:252940
Congenital Enterocyte Heparan Sulfate Deficiency
Protein-losing enteropathy, Hematochezia ORPHA:103910
Ciliary Dyskinesia, Primary, 34
Male infertility, Immotile sperm OMIM:617091
Dyskeratosis Congenita
Hepatomegaly, Urethral stenosis, Abnormal morphology of female internal genitalia, Anemia, Neopla... ORPHA:1775
Plasminogen Deficiency, Type I
Duodenal ulcer, Nephritis, Nephrolithiasis OMIM:217090
Alpha-Thalassemia-Myelodysplastic Syndrome
Neutropenia, Acute leukemia, Splenomegaly, Microcytic anemia, Thrombocytopenia, HbH hemoglobin ORPHA:231401
Cornelia De Lange Syndrome 1
Hypospadias, Pyloric stenosis, Cleft palate, Hypoplastic nipples, Reduced renal corticomedullary ... OMIM:122470
Abnormal jejunum morphology, Pericarditis, Diabetes mellitus, Endocarditis ORPHA:449280
Fraser Syndrome 1
Hypospadias, Renal hypoplasia, Cleft palate, Abnormality of the small intestine, Abnormality of t... OMIM:219000
Tropical Pancreatitis
Abnormal pancreatic duct morphology, Maternal diabetes, Insulin-dependent but ketosis-resistant d... ORPHA:103918
Primary Sclerosing Cholangitis
Neoplasm of the gallbladder, Cholangiocarcinoma, Hepatitis, Splenomegaly, Hepatosplenomegaly, Typ... ORPHA:171
Aicardi-Goutieres Syndrome 1
Hepatomegaly, Diabetes insipidus, Multiple gastric polyps, Cardiomyopathy, Splenomegaly, Hypothyr... OMIM:225750
Deafness-Small Bowel Diverticulosis-Neuropathy Syndrome
Duodenal ulcer, Steatorrhea, Malabsorption ORPHA:3217
Lymphoproliferative Syndrome 2
Hepatomegaly, Ascites, Lymphadenopathy, Splenomegaly, Hepatosplenomegaly, Pancytopenia, Aplastic ... OMIM:615122
Apert Syndrome
Pyloric stenosis, Hydronephrosis, Cleft palate, Ventricular septal defect, Ectopic anus, Esophage... OMIM:101200
Erythrocytosis, Familial, 8
Normocytic anemia, Polycythemia, Normochromic anemia, Cholelithiasis, Splenomegaly, Nonspherocyti... OMIM:222800
Bile Acid Synthesis Defect, Congenital, 5
Hepatomegaly, Portal fibrosis, Hepatic fibrosis, Iron deficiency anemia, Splenomegaly, Portal hyp... OMIM:616278
Neonatal Lupus Erythematosus
Dilated cardiomyopathy, Hepatomegaly, Neutropenia, Abnormal heart morphology, Anemia, Splenomegal... ORPHA:398124
Familial Hemophagocytic Lymphohistiocytosis
Hepatomegaly, Neutropenia, Lymphadenopathy, Abnormal renal physiology, Anemia, Splenomegaly, Chol... ORPHA:540
X-Linked Non-Syndromic Intellectual Disability
Pyloric stenosis, Urinary incontinence, Meckel diverticulum ORPHA:777
Chylomicron Retention Disease
Acanthocytosis, Increased hepatocellular lipid droplets, Hepatic steatosis, Steatorrhea, Fat mala... ORPHA:71
Cold Agglutinin Disease