Gene Summary

Name:
PRAME like 12
Synonyms:
4732496O08Rik,  Pramef8

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

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.

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

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Viewing: all phenotypes

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.

X-ray

XRay Images Whole Body Dorso Ventral

112 Images

X-ray

XRay Images Whole Body Lateral Orientation

7 Images

X-ray

XRay Images Whole Body Lateral Orientation

56 Images

X-ray

XRay Images Whole Body Dorso Ventral

23 Images

Histopathology

Images

1 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
phenotypes
Matching phenotypes Source
Spermatogenic Failure 35
Absent sperm axoneme central pair complex, Short sperm flagella, Absent sperm flagella, Male infe... OMIM:618341
Spermatogenic Failure 72
Absent sperm axoneme central pair complex, Irregularly shaped sperm tail, Reduced progressive spe... OMIM:619867
Spermatogenic Failure 34
Absent sperm axoneme central pair complex, Irregularly shaped sperm tail, Short sperm flagella, A... OMIM:618153
Spermatogenic Failure, X-Linked, 5
Irregularly shaped sperm tail, Reduced progressive sperm motility, Short sperm flagella, Absent s... OMIM:301099
Spermatogenic Failure 20
Absent sperm flagella, Short sperm flagella, Male infertility, Coiled sperm flagella OMIM:617593
Spermatogenic Failure 37
Irregularly shaped sperm tail, Short sperm flagella, Absent sperm flagella, Reduced sperm motilit... OMIM:618429
Spermatogenic Failure 18
Irregularly shaped sperm tail, Short sperm flagella, Absent sperm flagella, Reduced sperm motilit... OMIM:617576
Spermatogenic Failure 33
Irregularly shaped sperm tail, Short sperm flagella, Absent sperm flagella, Reduced sperm motilit... OMIM:618152
Spermatogenic Failure 46
Irregularly shaped sperm tail, Short sperm flagella, Absent sperm flagella, Reduced sperm motilit... OMIM:619095
Spermatogenic Failure 27
Absent sperm axoneme central pair complex, Short sperm flagella, Absent sperm flagella, Reduced s... OMIM:617965
Spermatogenic Failure 17
Male infertility OMIM:617214
Spermatogenic Failure 43
Absent sperm axoneme central pair complex, Absent sperm flagella, Reduced sperm motility, Male in... OMIM:618751
Spermatogenic Failure 19
Short sperm flagella, Absent sperm flagella, Reduced sperm motility, Male infertility, Coiled spe... OMIM:617592
Spermatogenic Failure 82
Reduced progressive sperm motility, Short sperm flagella, Absent sperm flagella, Male infertility... OMIM:620353
Spermatogenic Failure 49
Short sperm flagella, Absent sperm flagella, Reduced sperm motility, Male infertility, Coiled spe... OMIM:619144
Spermatogenic Failure 45
Short sperm flagella, Absent sperm flagella, Reduced sperm motility, Male infertility, Coiled spe... OMIM:619094
Spermatogenic Failure 84
Irregularly shaped sperm tail, Reduced progressive sperm motility, Short sperm flagella, Bent spe... OMIM:620409
Spermatogenic Failure 65
Irregularly shaped sperm tail, Reduced progressive sperm motility, Abnormal sperm mid-piece morph... OMIM:619712
Spermatogenic Failure 56
Irregularly shaped sperm tail, Reduced progressive sperm motility, Short sperm flagella, Absent s... OMIM:619515
Spermatogenic Failure 83
Altered location of the longitudinal column in the fibrous sheath, Reduced progressive sperm moti... OMIM:620354
Spermatogenic Failure, X-Linked, 3
Reduced sperm motility, Irregularly shaped sperm tail, Short sperm flagella, Oligozoospermia, Abs... OMIM:301059
Spermatogenic Failure 40
Immotile sperm, Short sperm flagella, Absent sperm flagella, Oligozoospermia, Male infertility, C... OMIM:618664
Spermatogenic Failure 80
Reduced progressive sperm motility, Short sperm flagella, Absent sperm flagella, Oligozoospermia,... OMIM:620222
Spermatogenic Failure 76
Irregularly shaped sperm tail, Short sperm flagella, Oligozoospermia, Reduced sperm motility, Abs... OMIM:620084
Spermatogenic Failure 58
Irregularly shaped sperm tail, Reduced progressive sperm motility, Immotile sperm, Short sperm fl... OMIM:619585
Spermatogenic Failure 54
Abnormal sperm axoneme morphology, Cryptozoospermia, Tapered sperm head, Short sperm flagella, Ol... OMIM:619379
Spermatogenic Failure 42
Microcephalic sperm head, Tapered sperm head, Short sperm flagella, Absent sperm flagella, Reduce... OMIM:618745
Spermatogenic Failure 47
Immotile sperm, Short sperm flagella, Absent sperm flagella, Oligozoospermia, Male infertility OMIM:619102
Spermatogenic Failure 39
Tapered sperm head, Short sperm flagella, Oligozoospermia, Reduced sperm motility, Absent sperm f... OMIM:618643
Spermatogenic Failure 3
Male infertility, Reduced sperm motility OMIM:606766
Spermatogenic Failure, Y-Linked, 1
Male infertility, Reduced sperm motility OMIM:400042
Spermatogenic Failure 55
Male infertility, Reduced sperm motility OMIM:619380
Spermatogenic Failure 79
Reduced sperm motility, Coiled sperm flagella, Male infertility, Oligozoospermia OMIM:620196
Spermatogenic Failure 7
Immotile sperm, Reduced sperm motility, Male infertility, Oligozoospermia OMIM:612997
Spermatogenic Failure 11
Male infertility, Abnormal sperm morphology, Oligozoospermia, Reduced sperm motility OMIM:615081
Spermatogenic Failure 10
Abnormal sperm morphology, Reduced sperm motility, Male infertility, Oligozoospermia OMIM:614822
Spermatogenic Failure 62
Non-obstructive azoospermia, Male infertility, Spermatocyte maturation arrest OMIM:619673
Spermatogenic Failure 61
Non-obstructive azoospermia, Male infertility, Spermatocyte maturation arrest OMIM:619672
Spermatogenic Failure 88
Non-obstructive azoospermia, Male infertility, Spermatocyte maturation arrest OMIM:620547
Spermatogenic Failure 73
Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility OMIM:619878
Spermatogenic Failure 59
Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility OMIM:619645
Spermatogenic Failure 60
Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility OMIM:619646
Spermatogenic Failure 74
Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility OMIM:619937
Spermatogenic Failure 41
Tapered sperm head, Immotile sperm, Short sperm flagella, Oligozoospermia, Male infertility OMIM:618670
Male Infertility Due To Acephalic Spermatozoa
Acephalic spermatozoa, Abnormal sperm mid-piece morphology, Oligozoospermia, Reduced sperm motili... ORPHA:529970
Spermatogenic Failure 48
Spermatogenesis maturation arrest, Azoospermia, Oligozoospermia, Male infertility OMIM:619108
Spermatogenic Failure 36
Abnormal sperm morphology, Male infertility OMIM:618420
Spermatogenic Failure 78
Microcephalic sperm head, Tapered sperm head, Male infertility OMIM:620170
Spermatogenic Failure 1
Cryptozoospermia, Male infertility, Oligozoospermia OMIM:258150
Syndromic Recessive X-Linked Ichthyosis
Unilateral renal agenesis, Acute leukemia, Hypogonadism, Abnormal stomach morphology, Renal insuf... ORPHA:281090
Martinez-Frias Syndrome
Annular pancreas, Pancreatic hypoplasia, Intestinal malrotation, Jejunal atresia, Tracheoesophage... OMIM:601346
Spermatogenic Failure 25
Cryptozoospermia, Non-obstructive azoospermia, Male infertility, Spermatocyte maturation arrest OMIM:617960
Spermatogenic Failure 29
Non-obstructive azoospermia, Immotile sperm, Male infertility OMIM:618091
Spermatogenic Failure 5
Multiflagellar spermatozoa, Macrozoospermia, Male infertility OMIM:243060
Spermatogenic Failure 16
Acephalic spermatozoa, Male infertility, Reduced sperm motility OMIM:617187
Spermatogenic Failure 86
Acephalic spermatozoa, Acrosomal hypoplasia, Abnormal sperm head morphology, Ruffled acrosome, Ma... OMIM:620499
Spermatogenic Failure 21
Acephalic spermatozoa, Male infertility, Reduced sperm motility OMIM:617644
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm
Abnormal sperm morphology, Immotile sperm, Male infertility OMIM:608653
Spermatogenic Failure 22
Cryptozoospermia, Non-obstructive azoospermia, Male infertility OMIM:617706
Serrated Polyposis Syndrome
Biliary tract neoplasm, Neoplasm of the large intestine, Pancreatic adenocarcinoma, Prostate canc... ORPHA:157798
Spermatogenic Failure 57
Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility OMIM:619528
Spermatogenic Failure 70
Azoospermia, Reduced sperm motility, Male infertility, Oligozoospermia OMIM:619828
Spermatogenic Failure 64
Abnormal sperm head morphology, Reduced progressive sperm motility, Male infertility, Oligozoospe... OMIM:619696
Autoinflammatory Disease, Familial, Behcet-Like 3
Vaginal mucosal ulceration, Ileitis OMIM:618287
Spermatogenic Failure 63
Reduced progressive sperm motility, Male infertility, Oligozoospermia OMIM:619689
Deafness-Infertility Syndrome
Reduced sperm motility, Abnormal sperm head morphology, Abnormal spermatogenesis, Male infertilit... OMIM:611102
Spermatogenic Failure 87
Ruffled acrosome, Male infertility OMIM:620500
Spermatogenic Failure 31
Acephalic spermatozoa, Male infertility OMIM:618112
Spermatogenic Failure 53
Tapered sperm head, Male infertility OMIM:619258
Spermatogenic Failure 26
Acephalic spermatozoa, Male infertility OMIM:617961
Spermatogenic Failure 30
Spermatogenesis maturation arrest, Cryptozoospermia, Azoospermia, Male infertility OMIM:618110
Congenital Alveolar Capillary Dysplasia
Aortic valve stenosis, Hypoplastic left heart, Annular pancreas, Volvulus, Duodenal stenosis, Int... ORPHA:210122
Spermatogenic Failure, X-Linked, 6
Absent sperm axoneme central pair complex, Microcephalic sperm head, Reduced progressive sperm mo... OMIM:301101
Matthew-Wood Syndrome
Renal hypoplasia, Annular pancreas, Abnormality of the uterus, Duodenal stenosis, Horseshoe kidne... ORPHA:2470
Spermatogenic Failure 50
Spermatogenesis maturation arrest, Azoospermia, Male infertility OMIM:619145
Partial Chromosome Y Deletion
Male infertility, Non-obstructive azoospermia, Oligozoospermia, Abnormal spermatogenesis ORPHA:1646
Meckel Diverticulum
Meckel diverticulum OMIM:155140
Blood Group, Cromer System
Protein-losing enteropathy OMIM:613793
Spermatogenic Failure 52
Azoospermia, Male infertility OMIM:619202
Spermatogenic Failure, Y-Linked, 2
Azoospermia, Male infertility OMIM:415000
Spermatogenic Failure 4
Azoospermia, Male infertility OMIM:270960
Spermatogenic Failure 23
Azoospermia, Male infertility OMIM:617707
Spermatogenic Failure 32
Non-obstructive azoospermia, Male infertility OMIM:618115
Spermatogenic Failure 71
Non-obstructive azoospermia, Male infertility OMIM:619831
Appendicitis, Proneness To
Abnormal large intestine morphology OMIM:107700
Alpha-Heavy Chain Disease
Ascites, Abnormal small intestine morphology, Splenomegaly, Anemia, Lymphadenopathy, Hepatomegaly ORPHA:100025
Perlman Syndrome
High, narrow palate, Abnormal pancreas morphology, Hyperinsulinemia, Cryptorchidism, Hepatomegaly... ORPHA:2849
Spermatogenic Failure 81
Acrosomal hypoplasia, Reduced progressive sperm motility, Oligozoospermia, Male infertility OMIM:620277
Heterotaxy, Visceral, 11, Autosomal, With Male Infertility
Duodenal atresia, Polysplenia, Intestinal malrotation, Situs inversus totalis, Partial atrioventr... OMIM:619608
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Hematochezia, Ileal atresia, Colonic atresia, Intestinal malrotation, Lymphopenia, Interface hepa... OMIM:243150
Mitchell-Riley Syndrome
Annular pancreas, Pancreatic hypoplasia, Anteriorly placed anus, Meckel diverticulum, Intestinal ... OMIM:615710
Renal-Hepatic-Pancreatic Dysplasia 1
Aortic valve stenosis, Cholestasis, Cirrhosis, Atrial septal defect, Hepatomegaly, Polycystic kid... OMIM:208540
Fanconi Anemia, Complementation Group W
Decreased response to growth hormone stimulation test, Renal hypoplasia, Duodenal atresia, Polysp... OMIM:617784
Dietary Iron Overload Disease
Hepatic bridging fibrosis, Hepatic fibrosis, Abnormal thyroid morphology, Increased circulating c... ORPHA:139507
Hyperinsulinemic Hypoglycemia, Familial, 2
Hyperinsulinemic hypoglycemia, Nesidioblastosis, Pancreatic islet-cell hyperplasia OMIM:601820
Mantle Cell Lymphoma
Abnormality of the gastrointestinal tract, Splenomegaly, Lymphadenopathy ORPHA:52416
Azoospermia, Obstructive, With Nephrolithiasis
Obstructive azoospermia, Male infertility, Nephrolithiasis OMIM:301060
Deafness-Infertility Syndrome
Azoospermia, Male infertility ORPHA:94064
Duodenal Atresia
Annular pancreas, Duodenal atresia, Abnormality of the pancreas ORPHA:1203
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome
Gastrointestinal hemorrhage, Abnormal large intestine morphology, Gastroesophageal reflux, Ascite... ORPHA:2198
Alpha-1-Antitrypsin Deficiency
Cirrhosis, Gastric varix, Splenomegaly, Hepatocellular carcinoma OMIM:613490
Hemochromatosis, Type 1
Cardiomyopathy, Ascites, Azoospermia, Splenomegaly, Cardiomegaly, Hypogonadotropic hypogonadism, ... OMIM:235200
Ciliary Dyskinesia, Primary, 51
Irregularly shaped sperm tail, Situs inversus totalis, Reduced progressive sperm motility, Short ... OMIM:620438
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility
Situs inversus totalis, Dextrocardia, Male infertility OMIM:618948
Umbilical Cord Ulceration-Intestinal Atresia Syndrome
Abnormal tricuspid valve morphology, Ventricular septal defect, Intestinal atresia, Anemia, Duode... ORPHA:3405
Hypogonadism, Male
Micropenis, Male hypogonadism, Hypospadias, Testicular atrophy OMIM:241100
Fanconi Anemia, Complementation Group F
Bone marrow hypocellularity, Renal hypoplasia, Microphallus, Decreased response to growth hormone... OMIM:603467
Spermatogenic Failure, X-Linked, 7
Excess residual spermatozoal cytoplasm, Multiflagellar spermatozoa, Globozoospermia, Reduced sper... OMIM:301106
Intrinsic Factor And R Binder, Combined Congenital Deficiency Of
Megaloblastic anemia, Absence of intrinsic factor OMIM:243320
Spermatogenic Failure 85
Acephalic spermatozoa, Reduced progressive sperm motility, Globozoospermia, Male infertility, Coi... OMIM:620490
Isochromosomy Yp
Azoospermia, Male infertility ORPHA:98797
Spermatogenic Failure 38
Reduced sperm motility, Tapered sperm head, Abnormal sperm head morphology, Absent sperm flagella... OMIM:618433
Persistent Mullerian Duct Syndrome, Types I And Ii
Male infertility OMIM:261550
Fanconi Anemia, Complementation Group B
Aplastic anemia, Hypogonadism, Ventricular septal defect, Tracheoesophageal fistula, Esophageal a... OMIM:300514
Annular Pancreas
Annular pancreas, High intestinal obstruction, Duodenal stenosis ORPHA:675
Pancreas, Annular
Annular pancreas, High intestinal obstruction, Duodenal stenosis OMIM:167750
Dextrocardia
Meckel diverticulum, Pancreatic hypoplasia, Abnormality of abdominal situs, Intestinal malrotatio... ORPHA:1666
Spermatogenic Failure, X-Linked, 2
Spermatogenesis maturation arrest, Azoospermia, Testicular atrophy, Male infertility OMIM:309120
Fryns Syndrome
Multicystic kidney dysplasia, Gastroesophageal reflux, Intestinal malrotation, Tetralogy of Fallo... ORPHA:2059
Immunodeficiency 104
Gastroesophageal reflux, Splenomegaly, Lymphadenopathy, Hepatomegaly, T lymphocytopenia OMIM:608971
Ciliary Dyskinesia, Primary, 50
Reduced progressive sperm motility, Short sperm flagella, Reduced sperm motility, Male infertilit... OMIM:620356
Hepatoportal Sclerosis
Nodular regenerative hyperplasia of liver, Gastrointestinal hemorrhage, Periportal fibrosis, Abno... ORPHA:64743
Feingold Syndrome
Esophageal atresia, Abnormality of the spleen, Annular pancreas, Duodenal atresia ORPHA:1305
Coproporphyria, Hereditary
Increased fecal coproporphyrin 3, Elevated urinary coproporphyrin level, Increased urinary porpho... OMIM:121300
Adams-Oliver Syndrome 6
Hepatic fibrosis, Renal hypoplasia, Portal hypertension, Splenomegaly, Ventricular septal defect,... OMIM:616589
Visceral Myopathy 2
Barrett esophagus, Gastroesophageal reflux, Intestinal pseudo-obstruction, Volvulus, Megacystis, ... OMIM:619350
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Protein-losing enteropathy, Abnormality of the uterus, Pancreatic lymphangiectasis, Ascites, Hepa... ORPHA:1655
Kallmann Syndrome With Spastic Paraplegia
Unilateral renal agenesis, Hypothalamic gonadotropin-releasing hormone deficiency, Cryptorchidism... OMIM:308750
Hemochromatosis, Type 2B
Hepatic fibrosis, Cardiomyopathy, Hypogonadism, Splenomegaly, Anemia, Cirrhosis, Hepatomegaly, Se... OMIM:613313
Intellectual Developmental Disorder, Autosomal Dominant 53
Intestinal malrotation, Cryptorchidism, Ventricular septal defect, Hydronephrosis, Gastrointestin... OMIM:617798
Spermatogenic Failure 44
Acephalic spermatozoa, Male infertility, Reduced sperm motility OMIM:619044
Serkal Syndrome
Abnormal penis morphology, Malrotation of small bowel, Ventricular septal defect, Abnormality of ... ORPHA:139466
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia
Unilateral renal agenesis, Small scrotum, Decreased serum testosterone concentration, Decreased t... OMIM:308700
Macrocephaly-Intellectual Disability-Autism Syndrome
Thyroid carcinoma, Penile freckling, Intestinal polyposis, Hepatic steatosis, Lymphoid nodular hy... ORPHA:210548
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency
Splenomegaly, Decreased proportion of class-switched memory B cells, Glomerulonephritis, Lymphade... OMIM:619375
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Protein-losing enteropathy, Pancreatic lymphangiectasis, Ascites, Cryptorchidism, Splenomegaly, V... OMIM:235255
Hemochromatosis, Type 2A
Dilated cardiomyopathy, Cardiomyopathy, Azoospermia, Splenomegaly, Hypogonadotropic hypogonadism,... OMIM:602390
Spermatogenic Failure 75
Non-obstructive azoospermia, Male infertility, Spermatocyte maturation arrest OMIM:619949
Bronchogenic Cyst
Abnormal stomach morphology, Abnormal pericardium morphology, Abnormal esophagus morphology, Abno... ORPHA:2357
Spermatogenic Failure 6
Decreased acrosin in sperm head, Globozoospermia, Male infertility OMIM:102530
Heterotaxy, Visceral, 1, X-Linked
Posteriorly placed anus, Ventricular septal defect, Atrial septal defect, Dextrocardia, Single ve... OMIM:306955
Mirror Polydactyly-Vertebral Segmentation-Limbs Defects Syndrome
Aplasia of the thymus, Duodenal atresia ORPHA:3004
Craniofacial Dyssynostosis With Short Stature
Horseshoe kidney, Cryptorchidism, Ventricular septal defect, Hypospadias, Pyloric stenosis OMIM:218350
Isolated Follicle Stimulating Hormone Deficiency
Decreased serum estradiol, Male hypogonadism, Decreased serum testosterone concentration, Decreas... ORPHA:52901
Acrocephalopolydactylous Dysplasia
Hepatic fibrosis, Polysplenia, Ascites, Hypoplastic colon, Pancreatic fibrosis, Hepatomegaly, Hyp... OMIM:200995
Tyrosinemia Type 1
Hepatomegaly, Generalized aminoaciduria, Splenomegaly, Hepatocellular carcinoma ORPHA:882
Wolfram Syndrome 1
Hydroureter, Cardiomyopathy, Sideroblastic anemia, Hydronephrosis, Hypothyroidism, Neurogenic bla... OMIM:222300
Congenital Disorder Of Glycosylation, Type Ih
Protein-losing enteropathy, Cholestasis, Decreased circulating T4 concentration, Ascites, Cryptor... OMIM:608104
Congenital Disorder Of Glycosylation, Type Ib
Protein-losing enteropathy, Hepatic fibrosis, Proximal tubulopathy, Villous atrophy, Renal cyst, ... OMIM:602579
Heterotaxy, Visceral, 5, Autosomal
Renal hypoplasia, Total anomalous pulmonary venous return, Ureteral stenosis, Abdominal situs inv... OMIM:270100
Pyloric Atresia
Congenital pyloric atresia OMIM:265950
Fryns Syndrome
Ectopic pancreatic tissue, Meckel diverticulum, Bifid scrotum, Polysplenia, Intestinal malrotatio... OMIM:229850
Portal Hypertension, Noncirrhotic, 1
Hepatomegaly, Portal hypertension, Splenomegaly, Esophageal varix OMIM:617068
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked
Congenital shortened small intestine, Intestinal pseudo-obstruction, Intestinal malrotation, Hydr... OMIM:300048
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Congenital shortened small intestine, Ventricular septal defect, Bicuspid aortic valve, Atrial se... OMIM:265380
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull
Testicular atrophy, Intestinal malrotation OMIM:601163
Chronic Intestinal Pseudoobstruction
Intestinal malrotation, Abnormal platelet morphology, Abnormal intestine morphology, Pyloric sten... ORPHA:2978
Mosaic Variegated Aneuploidy Syndrome 1
Multicystic kidney dysplasia, Leukemia, Bifid scrotum, Cryptorchidism, Renal cyst, Pulmonic steno... OMIM:257300
Alg1-Cdg
Protein-losing enteropathy, Cardiomyopathy, Abnormal heart morphology, Renal insufficiency, Abnor... ORPHA:79327
Isochromosomy Yq
Azoospermia, Male infertility ORPHA:98798
Spermatogenic Failure 66
Globozoospermia, Male infertility OMIM:619799
Spermatogenic Failure 9
Globozoospermia, Male infertility OMIM:613958
Spermatogenic Failure 67
Globozoospermia, Male infertility OMIM:619803
Spermatogenic Failure 68
Globozoospermia, Male infertility OMIM:619805
Spermatogenic Failure 69
Globozoospermia, Male infertility OMIM:619826
Familial Adenomatous Polyposis 4
Thyroid adenoma, Gastric adenocarcinoma, Duodenal polyposis, Ovarian cyst, Renal cyst, Adenomatou... OMIM:617100
Microgastria-Limb Reduction Defect Syndrome
Multicystic kidney dysplasia, Microgastria, Gastroesophageal reflux, Horseshoe kidney, Intestinal... ORPHA:2538
Hypereosinophilic Syndrome, Idiopathic
Restrictive cardiomyopathy, Endocardial fibrosis, Splenomegaly, Eosinophilia, Hepatomegaly, Myelo... OMIM:607685
Oculoskeletodental Syndrome
Protein-losing enteropathy, Cryptorchidism, Splenomegaly, Hypercalciuria, Hypothyroidism, Mucopol... OMIM:618440
Spinal And Bulbar Muscular Atrophy, X-Linked 1
Testicular atrophy, Decreased fertility, Dysphagia OMIM:313200
Ciliary Dyskinesia, Primary, 36, X-Linked
Situs inversus totalis, Male infertility OMIM:300991
Immunodeficiency 76
Lymphopenia, Splenomegaly, Lymphadenopathy, B lymphocytopenia, Colitis, T lymphocytopenia OMIM:619164
Inflammatory Bowel Disease (Crohn Disease) 30
Protein-losing enteropathy, Esophagitis, Pancolitis, Ileitis, Abnormal intestine morphology, Gast... OMIM:619079
Thoraco-Abdominal Enteric Duplication
Duodenal stenosis, Intestinal malrotation, Abnormal tricuspid valve morphology, Dextrocardia, Hep... ORPHA:1759
Nk-Cell Enteropathy
Hematochezia, Colonic diverticula, Gastroesophageal reflux, Stercoral ulcer, Abnormal gastric muc... ORPHA:263665
Symptomatic Form Of Hfe-Related Hemochromatosis
Cardiomyopathy, Decreased serum testosterone concentration, Decreased libido, Portal hypertension... ORPHA:465508
Ornithine Transcarbamylase Deficiency
Aminoaciduria, Splenomegaly, Pyloric stenosis ORPHA:664
Mitochondrial Complex Iv Deficiency, Nuclear Type 19
Protein-losing enteropathy, Lacticaciduria OMIM:619063
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Hepatic fibrosis, Periportal fibrosis, Multiple small medullary renal cysts, Renal insufficiency,... OMIM:263200
Lethal Hemolytic Anemia-Genital Anomalies Syndrome
Ascites, Abnormality of the ureter, Splenomegaly, Anemia, Hypoplasia of penis, Hypospadias ORPHA:1046
Hennekam Lymphangiectasia-Lymphedema Syndrome 3
Protein-losing enteropathy, Hydrocele testis OMIM:618154
Microform Holoprosencephaly
Tetralogy of Fallot, Panhypopituitarism, Ambiguous genitalia, Hypothyroidism, Maternal diabetes, ... ORPHA:280200
Intrinsic Factor Deficiency
Megaloblastic erythroid hyperplasia, Increased mean corpuscular volume, Increased RBC distributio... OMIM:261000
Dubin-Johnson Syndrome
Abnormal urinary color, Abnormality of the liver, Abnormal gastric mucosa morphology, Biliary tra... ORPHA:234
Polyposis of gastric fundus without polyposis coli
Multiple gastric polyps, Abnormal gastric mucosa morphology OMIM:175505
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism
Elevated urinary delta-aminolevulinic acid, Jaundice, Splenomegaly, Nonspherocytic hemolytic anemia OMIM:206400
Secondary Short Bowel Syndrome
Central hypothyroidism, Volvulus, Cholestasis, Villous atrophy, Abnormal small intestine morpholo... ORPHA:95427
Cholesteryl Ester Storage Disease
Adrenal calcification, Splenomegaly, Cirrhosis, Hepatomegaly, Jaundice, Esophageal varix ORPHA:75234
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Reduced natural killer cell count, Hemophagocytosis, Abnormal renal physiology, Hepatosplenomegal... ORPHA:158057
Spermatogenic Failure 2
Non-obstructive azoospermia, Azoospermia, Male infertility, Oligozoospermia OMIM:108420
Feingold Syndrome 1
Accessory spleen, Annular pancreas, Tricuspid stenosis, Polysplenia, Jejunal atresia, Ventricular... OMIM:164280
Trigonocephaly 1
High, narrow palate, Long penis, Meckel diverticulum OMIM:190440
Spermatogenic Failure 15
Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility OMIM:616950
Microcephalic Primordial Dwarfism, Montreal Type
Congenital pyloric atresia, Cryptorchidism ORPHA:2617
Intellectual Developmental Disorder, X-Linked 112
Enuresis nocturna, Enuresis, Gastroesophageal reflux, Volvulus, Horseshoe kidney, Abnormal heart ... OMIM:301111
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 8
Nodular regenerative hyperplasia of liver, Increased mean corpuscular volume, Portal hypertension... OMIM:620367
Glycogen Storage Disease Ib
Focal segmental glomerulosclerosis, Inflammation of the large intestine, Decreased glomerular fil... OMIM:232220
Activated Pi3K-Delta Syndrome
Recurrent tonsillitis, Splenomegaly, Abnormal intestine morphology, Lymphadenopathy, Intestinal l... ORPHA:397596
Mungan Syndrome
Barrett esophagus, Renal hypoplasia, Intestinal pseudo-obstruction, Megaduodenum, Vesicoureteral ... OMIM:611376
Lymphoproliferative Syndrome, X-Linked, 2
Inflammation of the large intestine, Aplastic anemia, Hepatitis, Hemophagocytosis, Pancytopenia, ... OMIM:300635
Autoinflammatory Syndrome, Familial, Behcet-Like 1
Genital ulcers, Lymphopenia, Thrombocytopenia, Ileal ulcer, Colitis, Hemolytic anemia OMIM:616744
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease
Pyloric stenosis, Acute kidney injury, Multicystic kidney dysplasia, Absent vas deferens, Abnorma... ORPHA:93111
Intellectual Disability-Hypotonia-Brachycephaly-Pyloric Stenosis-Cryptorchidism Syndrome
Pyloric stenosis, High palate, Bilateral cryptorchidism ORPHA:314575
Hardikar Syndrome
Portal inflammation, Cholestasis, Hepatosplenomegaly, Cleft soft palate, Hypersplenism, Bilateral... OMIM:301068
Immunodeficiency 84
Perianal abscess, Splenomegaly, B lymphocytopenia OMIM:619437
Feingold Syndrome Type 1
Nephritis, Tricuspid stenosis, Horseshoe kidney, Abnormal heart morphology, Multiple muscular ven... ORPHA:391641
Congenital Bile Acid Synthesis Defect Type 1
Gastrointestinal hemorrhage, Neonatal cholestatic liver disease, Splenomegaly, Biliary tract abno... ORPHA:79301
Heterotaxy, Visceral, 10, Autosomal, With Male Infertility
Situs inversus totalis, Dextrocardia, Male infertility OMIM:619607
Agammaglobulinemia 4, Autosomal Recessive
Protein-losing enteropathy, Neutropenia, Abnormal T cell morphology OMIM:613502
Cat Eye Syndrome
Hypoplastic left heart, Anal stenosis, Total anomalous pulmonary venous return, Meckel diverticul... OMIM:115470
Distal Deletion 12Q
High, narrow palate, Pyloric stenosis, Microglossia, Annular pancreas, Pituitary adenoma, Maturit... ORPHA:96149
Congenital Contractural Arachnodactyly
Intestinal malrotation, Mitral valve prolapse, Tracheoesophageal fistula, High palate, Duodenal a... ORPHA:115
Wolman Disease
Adrenal calcification, Ascites, Adrenal insufficiency, Splenomegaly, Hepatomegaly, Anemia, Steato... ORPHA:75233
Fanconi Anemia, Complementation Group D2
Bone marrow hypocellularity, Annular pancreas, Leukemia, Horseshoe kidney, Abnormal heart morphol... OMIM:227646
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Extramedullary hematopoiesis, Leukopenia, Splenomegaly, Anemia, Thrombocytopenia, Neutropenia, He... OMIM:615285
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Hemophagocytosis, Hepatosplenomegaly, Splenomegaly, Lymphadenopathy, Thrombocytopenia, Anemia, Co... OMIM:613101
Pancreatitis, Hereditary
Exocrine pancreatic insufficiency, Pancreatic calcification, Pancreatitis, Steatorrhea, Diabetes ... OMIM:167800
Dyskeratosis Congenita, Autosomal Recessive 2
Bone marrow hypocellularity, Oral leukoplakia, Pancytopenia, Cirrhosis, Thrombocytopenia, Testicu... OMIM:613987
Attenuated Familial Adenomatous Polyposis
Thyroid adenoma, Duodenal polyposis, Large intestinal polyposis, Multiple renal cysts, Adenomatou... ORPHA:220460
Stromme Syndrome
Accessory spleen, Bilateral renal hypoplasia, Intestinal malrotation, Jejunal atresia, Hydronephr... OMIM:243605
Alg6-Cdg
Protein-losing enteropathy, Macroglossia, Puberty and gonadal disorders, Abnormality of the liver... ORPHA:79320
Cholestasis, Progressive Familial Intrahepatic, 1
Cholelithiasis, Splenomegaly, Cirrhosis, Intrahepatic cholestasis with episodic jaundice, Hepatom... OMIM:211600
Hemoglobin D Disease
Reduced beta/alpha synthesis ratio, Reduced hemoglobin A, Imbalanced hemoglobin synthesis, Spleno... ORPHA:90039
Zollinger-Ellison Syndrome
Increased circulating cortisol level, Pituitary prolactin cell adenoma, Increased urinary cortiso... ORPHA:913
Epidermolysis Bullosa Simplex 5C, With Pyloric Atresia
Congenital pyloric atresia OMIM:612138
Familial Peripheral Male-Limited Precocious Puberty
Long penis, Oligozoospermia, Male infertility ORPHA:3000
Esophageal Atresia
Barrett esophagus, Gastrointestinal carcinoma, Gastroesophageal reflux, Intestinal malrotation, T... ORPHA:1199
Down Syndrome
Type II diabetes mellitus, Protruding tongue, Decreased fertility, Ventricular septal defect, Acu... ORPHA:870
Nephronophthisis 19
Malformation of the hepatic ductal plate, Hepatic fibrosis, Nephronophthisis, Cholestasis, Stage ... OMIM:616217
Ciliary Dyskinesia, Primary, 49, Without Situs Inversus
Short sperm flagella, Situs inversus totalis, Male infertility, Coiled sperm flagella OMIM:620197
Fg Syndrome 3
Cryptorchidism, Pyloric stenosis OMIM:300406
Jacobsen Syndrome
Aortic valve stenosis, Hypoplastic left heart, Multicystic kidney dysplasia, Bone marrow hypocell... ORPHA:2308
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects
Unilateral renal agenesis, Muscular ventricular septal defect, Submucous cleft hard palate, Trach... OMIM:619227
Diarrhea 7, Protein-Losing Enteropathy Type
Protein-losing enteropathy, Villous atrophy OMIM:615863
Harderoporphyria
Increased fecal harderoporphyrin, Increased urinary porphobilinogen, Splenomegaly, Red urine, Ret... OMIM:618892
Hemoglobin H Disease
HbH hemoglobin, Splenomegaly, Hepatomegaly, Reduced alpha/beta synthesis ratio, Hemolytic anemia OMIM:613978
Cholestasis-Lymphedema Syndrome
Gastrointestinal hemorrhage, Portal hypertension, Splenomegaly, Neonatal cholestatic liver diseas... ORPHA:1414
Miller-Dieker Lissencephaly Syndrome
Abnormal heart morphology, Cryptorchidism, Pelvic kidney, Duodenal atresia, Cleft palate OMIM:247200
Diarrhea 5, With Tufting Enteropathy, Congenital
Villous atrophy, Crypt hyperplasia OMIM:613217
Portal Hypertension, Noncirrhotic, 2
Nodular regenerative hyperplasia of liver, Ascites, Portal hypertension, Splenomegaly, Thrombocyt... OMIM:619463
Mpi-Cdg
Hepatic fibrosis, Protein-losing enteropathy, Gastrointestinal hemorrhage, Portal hypertension, H... ORPHA:79319
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Protein-losing enteropathy, Pericardial lymphangiectasia, Intestinal lymphangiectasia, Horseshoe ... OMIM:235510
Pancreatic Colipase Deficiency
Cholelithiasis, Exocrine pancreatic insufficiency, Megaloblastic anemia, Steatorrhea, Fat malabso... ORPHA:309108
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Recurrent tonsillitis, Lymphadenitis, Anal fissure, Lymphopenia, Hepatosplenomegaly, Hemolytic an... OMIM:618935
Myotonic Dystrophy 1
Testicular atrophy, Cholelithiasis, Dysphagia, Hypogonadism OMIM:160900
Mosaic Variegated Aneuploidy Syndrome
Multicystic kidney dysplasia, Ascites, Vaginal neoplasm, Stomach cancer, Intestinal polyposis, Hy... ORPHA:1052
Dyrk1A-Related Intellectual Disability Syndrome
Aortic valve stenosis, Unilateral renal agenesis, Hypospadias, Gastroesophageal reflux, Breast hy... ORPHA:464306
Kennedy Disease
Testicular atrophy, Type II diabetes mellitus, Decreased fertility, Erectile dysfunction ORPHA:481
Beta-Thalassemia
Cholelithiasis, Hepatitis, Hypertrophic cardiomyopathy, Microcytic anemia, Splenomegaly, Abnormal... ORPHA:848
Chronic Diarrhea Due To Glucoamylase Deficiency
Abnormal small intestinal mucosa morphology, Decreased small intestinal mucosa lactase level ORPHA:103907
Cholestasis, Progressive Familial Intrahepatic, 2
Intrahepatic cholestasis, Splenomegaly, Intermittent jaundice, Cirrhosis, Hepatomegaly, Fat malab... OMIM:601847
Meckel Syndrome
Accessory spleen, Asplenia, Multicystic kidney dysplasia, Aplasia/Hypoplasia of the tongue, Furro... ORPHA:564
Congenital Tracheal Stenosis
Hypoplastic left heart, Fetal ascites, Meckel diverticulum, Duodenal stenosis, Abnormal stomach m... ORPHA:141127
Systemic Sclerosis
Chronic kidney disease, Barrett esophagus, Acute kidney injury, Intestinal bleeding, Gastroesopha... ORPHA:90291
Visceral Myopathy 1
Microcolon, Urinary retention, Megacystis, Intestinal pseudo-obstruction, Megaduodenum, Vesicoure... OMIM:155310
Campomelia, Cumming Type
Multicystic kidney dysplasia, Abnormal intestine morphology, Abnormality of the pancreas, Multipl... ORPHA:1318
Beta-Thalassemia Intermedia
Extramedullary hematopoiesis, Persistence of hemoglobin F, Hepatosplenomegaly, Anemia of inadequa... ORPHA:231222
Spermatogenic Failure 77
Azoospermia, Multiflagellar spermatozoa, Oligozoospermia, Male infertility OMIM:620103
Congenital Short Bowel Syndrome
Congenital shortened small intestine, Decreased intestinal transit time, Intestinal malrotation, ... OMIM:615237
Beckwith-Wiedemann Syndrome
Nephropathy, Cryptorchidism, Hepatoblastoma, Hepatomegaly, Visceromegaly, Polycythemia, Abnormal ... ORPHA:116
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Aortic valve stenosis, Unilateral renal agenesis, Hypospadias, Gastroesophageal reflux, Duodenal ... ORPHA:464311
Bone Marrow Failure Syndrome 5
Oral leukoplakia, Hypogonadism, Erythroid hypoplasia, Anemia, Testicular atrophy, Pure red cell a... OMIM:618165
Arthrogryposis, Perthes Disease, And Upward Gaze Palsy
Ventricular septal defect, Atrial septal defect, Pulmonic stenosis, Pyloric stenosis OMIM:614262
Spinocerebellar Ataxia 32
Testicular atrophy, Infertility, Azoospermia OMIM:613909
Cholesteryl Ester Storage Disease
Hepatic bridging fibrosis, Hepatic fibrosis, Periportal fibrosis, Increased hepatic echogenicity,... OMIM:278000
Sclerosing Cholangitis, Neonatal
Hepatic bridging fibrosis, Portal fibrosis, Biliary cirrhosis, Cholestasis, Ascites, Vesicoureter... OMIM:617394
Spinocerebellar Ataxia Type 32
Testicular atrophy, Azoospermia, Male infertility ORPHA:276183
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Hypersplenism, Pancytopenia, Splenomegaly, Decreased helper T cell proportion OMIM:183350
Autosomal Recessive Polycystic Kidney Disease
Cholestasis, Hepatosplenomegaly, Hypersplenism, Congenital hepatic fibrosis, Hepatoblastoma, Jaun... ORPHA:731
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart
Gastroesophageal reflux, Annular pancreas, Furrowed tongue, Vesicoureteral reflux, Cryptorchidism... OMIM:616975
Igg4-Related Submandibular Gland Disease
Enlarged lacrimal glands, Xerostomia, Abnormal pancreas morphology, Abnormality of the submandibu... ORPHA:449432
Ulnar-Mammary Syndrome
Renal hypoplasia, Abnormality of the uterus, Breast aplasia, Decreased fertility, Cryptorchidism,... ORPHA:3138
Mu-Heavy Chain Disease
Nephropathy, Bence Jones Proteinuria, Abnormal B cell count, Splenomegaly, Anemia, Lymphadenopath... ORPHA:100024
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Irregular menstruation, Hepatic fibrosis, Portal fibrosis, Cardiomyopathy, Cholestasis, Renal tub... ORPHA:264580
Pearson Syndrome
Pancytopenia, Hepatic steatosis, Neutropenia, Hepatomegaly, Hypoparathyroidism, Dysphagia, Hypopl... ORPHA:699
Marden-Walker Syndrome
High, narrow palate, Renal hypoplasia, Cryptorchidism, Zollinger-Ellison syndrome, Dextrocardia, ... OMIM:248700
Congenital Pulmonary Lymphangiectasia
Gastroesophageal reflux, Ascites, Splenomegaly, Hepatomegaly, Chylopericardium, Pulmonic stenosis ORPHA:2414
Atelosteogenesis Type I
Multiple renal cysts, Malrotation of colon, Cleft palate, Abnormal pancreatic duct morphology ORPHA:1190
Juvenile Polyposis Of Infancy
High, narrow palate, Protein-losing enteropathy, Intestinal bleeding, Gastrointestinal hemorrhage... ORPHA:79076
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Hepatic fibrosis, Microglossia, Hamartoma of tongue, Intestinal malrotation, Ventricular septal d... OMIM:263520
Renal Cysts And Diabetes Syndrome
Decreased numbers of nephrons, Pancreatic atrophy, Hypoplasia of the uterus, Hypospadias, Epididy... OMIM:137920
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis
Exocrine pancreatic insufficiency, Splenomegaly, Anemia of inadequate production, Hepatomegaly, S... OMIM:612714
8P11.2 Deletion Syndrome
Hypogonadism, Azoospermia, Cryptorchidism, Splenomegaly, Mitral valve prolapse, Hypogonadotropic ... ORPHA:251066
Metachromatic Leukodystrophy
Abnormal stomach morphology, Abnormal duodenum morphology, Abnormal gallbladder morphology, Urina... ORPHA:512
Pearson Marrow-Pancreas Syndrome
3-Methylglutaric aciduria, Hypoplastic anemia, Type I diabetes mellitus, Exocrine pancreatic insu... OMIM:557000
Cronkhite-Canada Syndrome
Gastrointestinal carcinoma, Furrowed tongue, Stomach cancer, Intestinal polyposis, Splenomegaly, ... ORPHA:2930
Zellweger Syndrome
Multicystic kidney dysplasia, Clitoral hypertrophy, Primary adrenal insufficiency, Cryptorchidism... ORPHA:912
Bile Acid Synthesis Defect, Congenital, 1
Intrahepatic cholestasis, Giant cell hepatitis, Splenomegaly, Hepatomegaly, Cirrhosis, Acholic st... OMIM:607765
Autoinflammation With Infantile Enterocolitis
Reduced natural killer cell count, Pancytopenia, Villous atrophy, Splenomegaly, Enterocolitis, Th... OMIM:616050
Polycystic Kidney Disease 1 With Or Without Polycystic Liver Disease
Colonic diverticula, Renal insufficiency, Hepatic cysts, Mitral valve prolapse, Polycystic kidney... OMIM:173900
Duodenal Atresia
Duodenal atresia OMIM:223400
Congenital Bile Acid Synthesis Defect Type 3
Cholestasis, Hepatosplenomegaly, Cirrhosis, Jaundice, Fat malabsorption, Bile duct proliferation ORPHA:79302
Syndromic Diarrhea
Lymphopenia, Ventricular septal defect, Bicuspid aortic valve, Hepatoblastoma, Cirrhosis, Atrial ... ORPHA:84064
Budd-Chiari Syndrome
Gastrointestinal hemorrhage, Ascites, Gastrointestinal infarctions, Portal hypertension, Cholecys... ORPHA:131
Adams-Oliver Syndrome 5
Hypersplenism, Splenomegaly, Patent foramen ovale, Portal vein thrombosis, Pulmonic stenosis, Rig... OMIM:616028
Trichothiodystrophy 3, Photosensitive
Meckel diverticulum, Bilateral cryptorchidism, Lymphopenia, Abdominal adhesions, Neutropenia, Pyl... OMIM:616395
Congenital Disorder Of Glycosylation, Type Il
Ascites, Pericardial effusion, Villous atrophy, Splenomegaly, Atrial septal defect, Hepatomegaly,... OMIM:608776
Oculogastrointestinal Muscular Dystrophy
Intestinal pseudo-obstruction, Abnormal gastric mucosa morphology, Abnormal mitral valve morpholo... ORPHA:1876
Diets-Jongmans Syndrome
Hypospadias, Cryptorchidism, Duodenal atresia, Ventricular septal defect OMIM:618846
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism
Hepatic fibrosis, Pancreatic hypoplasia, Elevated circulating thyroid-stimulating hormone concent... OMIM:610199
Bohring-Opitz Syndrome
Gastroesophageal reflux, Supernumerary nipple, Intestinal malrotation, Vesicoureteral reflux, Bil... OMIM:605039
Lowry-Maclean Syndrome
High, narrow palate, Abnormality of the abdominal organs, Bilateral cryptorchidism, Atrioventricu... ORPHA:2409
Hypoplasminogenemia
Abnormality of the ovary, Nephrolithiasis, Abnormal fallopian tube morphology, Duodenal ulcer, Ce... ORPHA:722
Eosinophilic Gastroenteritis
Protein-losing enteropathy, Hematochezia, Ascites, Leukocytosis, Anemia, Abnormality of the gastr... ORPHA:2070
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14
Precocious puberty, Bifid uvula, Maturity-onset diabetes of the young, Cryptorchidism, High palat... ORPHA:96184
Nephronophthisis 13
Renal hypoplasia, Nephronophthisis, Stage 5 chronic kidney disease, Intrahepatic bile duct dilata... OMIM:614377
Refractory Celiac Disease
Normocytic anemia, Protein-losing enteropathy, Jejunitis, Microcytic anemia, Villous atrophy, Abn... ORPHA:398063
Trisomy 8P
Bifid uvula, Nephrocalcinosis, Malrotation of small bowel, Annular pancreas, Tetralogy of Fallot,... ORPHA:264450
Jacobsen Syndrome
Annular pancreas, Cryptorchidism, Ventricular septal defect, Labial hypoplasia, Atrial septal def... OMIM:147791
Pericardial And Diaphragmatic Defect
Meckel diverticulum, Intestinal malrotation, Tetralogy of Fallot, Abnormal heart morphology, Part... ORPHA:2847
Amyloidosis, Hereditary Systemic 2
Nephropathy, Cholestasis, Splenomegaly, Proteinuria, Hematuria, Hepatomegaly, Nephrotic syndrome OMIM:105200
Meckel Syndrome, Type 7
Aortic valve stenosis, Multicystic kidney dysplasia, Biliary cirrhosis, Cholestasis, Hepatospleno... OMIM:267010
Meacham Syndrome
Aortic valve stenosis, Hypoplastic left heart, Abnormal vagina morphology, Hydrometrocolpos, Hors... ORPHA:3097
Congenital Disorder Of Glycosylation, Type Iil
Unilateral renal agenesis, Inflammation of the large intestine, Proximal tubulopathy, Cholestasis... OMIM:614576
Bile Acid Synthesis Defect, Congenital, 3
Hepatic bridging fibrosis, Hematochezia, Intrahepatic cholestasis, Hepatitis, Splenomegaly, Ducta... OMIM:613812
Macrocephaly/Autism Syndrome
Lymphopenia, Penile freckling, Splenomegaly, Hepatomegaly, High palate, Hydrocele testis OMIM:605309
Diarrhea 10, Protein-Losing Enteropathy Type
Protein-losing enteropathy, Hematochezia, Elevated circulating thyroid-stimulating hormone concen... OMIM:618183
Diphallia
Penoscrotal transposition, Gastrointestinal duplication, Bifid scrotum, Duplicated colon, Horsesh... ORPHA:227
Caroli Disease
Intrahepatic cholestasis, Cholelithiasis, Hepatic fibrosis, Biliary cirrhosis, Cholestasis, Ascit... ORPHA:53035
Pancreatic Agenesis 2
Pancreatic hypoplasia, Exocrine pancreatic insufficiency, Steatorrhea, Diabetes mellitus, Pancrea... OMIM:615935
Campomelia, Cumming Type
Pancreatic cysts, Polycystic kidney dysplasia, Polycystic liver disease, Polysplenia OMIM:211890
Griscelli Syndrome
Bone marrow hypocellularity, Hepatitis, Ascites, Leukopenia, Splenomegaly, Lymphadenopathy, Throm... ORPHA:381
Erythroleukemia, Familial, Susceptibility To
Leukemia, Erythroid hyperplasia, Splenomegaly, Anemia, Acute myeloid leukemia, Thrombocytopenia, ... OMIM:133180
Anemia, Congenital Dyserythropoietic, Type Iv
Increased RBC distribution width, Persistence of hemoglobin F, Hypertrophic cardiomyopathy, Hepat... OMIM:613673
Sickle Cell Disease
Splenic infarction, Cholelithiasis, Priapism, Increased red cell sickling tendency, Renal insuffi... OMIM:603903
Ménétrier Disease
Gastrointestinal hemorrhage, Gastroesophageal reflux, Stomach cancer, Abnormal gastric mucosa mor... ORPHA:2494
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Atrophic gastritis, Lymphopenia, Lymphocytic infiltration of the colorectal mucosa, Splenomegaly,... OMIM:616100
Multiple Endocrine Neoplasia Type 1
Increased serum serotonin, Increased circulating cortisol level, Pituitary prolactin cell adenoma... ORPHA:652
Coach Syndrome 1
Unilateral renal agenesis, Hepatic fibrosis, Nephronophthisis, Abnormal abdomen morphology, Multi... OMIM:216360
Mosaic Variegated Aneuploidy Syndrome 2
Decreased response to growth hormone stimulation test, Ventricular septal defect, Hypothyroidism,... OMIM:614114
Igg4-Related Thyroid Disease
Graves disease, Retroperitoneal fibrosis, Euthyroid goiter, Goiter, Sialadenitis, Sclerosing chol... ORPHA:64744
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy
Fat malabsorption, Jejunoileal ulceration, Small bowel diverticula OMIM:221400
Shwachman-Diamond Syndrome 2
Normocytic anemia, Exocrine pancreatic insufficiency, Hyperechogenic pancreas, Neutropenia, Throm... OMIM:617941
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Type I diabetes mellitus, Hepatitis, Decreased FOXP3-expressing T cell count, Villous atrophy, Il... OMIM:304790
Trisomy 18P
High, narrow palate, Pyloric stenosis, Bilateral cryptorchidism ORPHA:1715
Ring Chromosome Y Syndrome
Male hypogonadism, Female infertility, Azoospermia, Streak ovary, Urogenital sinus anomaly, Abnor... ORPHA:261529
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency
Atrophic gastritis, Type I diabetes mellitus, Inflammation of the large intestine, Lymphocytic in... ORPHA:436159
Splenoportal Vascular Anomalies
Hepatic fibrosis, Ascites, Splenomegaly, Cirrhosis, Anomalous splenoportal venous system, Diabete... OMIM:271500
Beta-Thalassemia, Dominant Inclusion Body Type
Persistence of hemoglobin F, Microcytic anemia, Increased HbA2 hemoglobin, Splenomegaly, Erythroc... OMIM:603902
Anemia, Hypochromic Microcytic, With Iron Overload 2
Hypogonadism, Sideroblastic anemia, Azoospermia, Splenomegaly, Anemia, Elevated hepatic iron conc... OMIM:615234
Autoimmune Lymphoproliferative Syndrome, Type Iia
Nephritis, Gastrointestinal hemorrhage, Chronic noninfectious lymphadenopathy, Splenomegaly, Foll... OMIM:603909
American Trypanosomiasis
Cardiomyopathy, Splenomegaly, Aganglionic megacolon, Achalasia, Lymphadenopathy, Myocarditis, Hep... ORPHA:3386
Congenital Tufting Enteropathy
Cholestatic liver disease, Abnormal large intestinal mucosa morphology, Villous atrophy, Abnormal... ORPHA:92050
Duodenal Ulcer Due To Antral G-Cell Hyperfunction
Hypergastrinemia, Duodenal ulcer OMIM:126840
Townes-Brocks Syndrome 1
Renal hypoplasia, Multicystic kidney dysplasia, Rectovaginal fistula, Gastroesophageal reflux, Bi... OMIM:107480
Chromosome 19Q13.11 Deletion Syndrome, Proximal
Pyloric stenosis, Vesicoureteral reflux, Hydroureter, Nephrolithiasis OMIM:617219
Kaposiform Lymphangiomatosis
Hepatosplenomegaly, Metrorrhagia, Splenomegaly, Lymphangioma, Abnormality of the lymphatic system... ORPHA:464329
Anemia, Congenital Dyserythropoietic, Type Ii
Cholelithiasis, Splenomegaly, Anemia of inadequate production, Reticulocytosis, Jaundice OMIM:224100
Charge Syndrome
Lymphopenia, Cryptorchidism, Ventricular septal defect, Overriding aorta, Atrial septal defect, H... OMIM:214800
Immunodeficiency 42
Hepatomegaly, Hypoplasia of the thymus, Splenomegaly OMIM:616622
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1
Hepatic fibrosis, Exocrine pancreatic insufficiency, Hepatic steatosis, Hepatomegaly, Hypothyroid... OMIM:616263
Proprotein Convertase 1/3 Deficiency
Elevated circulating proinsulin concentration, Villous atrophy, Hypogonadotropic hypogonadism, De... OMIM:600955
Autosomal Dominant Centronuclear Myopathy
Urinary incontinence, Cryptorchidism, Pyloric stenosis ORPHA:169189
Isolated Biliary Atresia
Periportal fibrosis, Hypopituitarism, Atretic gallbladder, Cholestasis, Splenomegaly, Prolonged n... ORPHA:30391
Immunodeficiency 31C
Protein-losing enteropathy, Intussusception, Lymphopenia, Villous atrophy, Splenomegaly, Autoimmu... OMIM:614162
Lesch-Nyhan Syndrome
Nephrocalcinosis, Nephrolithiasis, Hyperuricosuria, Megaloblastic anemia, Testicular atrophy, Dys... OMIM:300322
Transaldolase Deficiency
Hepatic fibrosis, Clitoral hypertrophy, Micronodular cirrhosis, Hepatosplenomegaly, Pancytopenia,... OMIM:606003
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Cor triatriatum, Secundum atrial septal defect, Lymphopenia, Hepatosplenomegaly, Leukopenia, Cryp... OMIM:612541
1P36 Deletion Syndrome
Abnormal female external genitalia morphology, Abnormality of the spleen, Cryptorchidism, Hepatic... ORPHA:1606
Autoimmune Hepatitis
Gastrointestinal hemorrhage, Inflammation of the large intestine, Viral hepatitis, Ascites, Splen... ORPHA:2137
Pparg-Related Familial Partial Lipodystrophy
Insulin-resistant diabetes mellitus, Hypertrophic cardiomyopathy, Hepatic steatosis, Splenomegaly... ORPHA:79083
Fg Syndrome Type 1
Small pituitary gland, Gastroesophageal reflux, Abnormal large intestine morphology, Cryptorchidi... ORPHA:93932
Koolen-De Vries Syndrome
High, narrow palate, Vesicoureteral reflux, Cryptorchidism, Hydronephrosis, Bicuspid aortic valve... ORPHA:96169
Ciliary Dyskinesia, Primary, 9
Situs inversus totalis, Male infertility OMIM:612444
Periventricular Nodular Heterotopia
Abnormal heart valve morphology, Gastroesophageal reflux, Pyloric stenosis ORPHA:98892
Immunodeficiency 97 With Autoinflammation
Decreased proportion of CD4+CD25+ regulatory T cells, Reduced natural killer cell count, Hemophag... OMIM:619802
Colonic Atresia
Peptic ulcer, Abdominal situs inversus, Colonic atresia, Abnormal mesentery morphology, Duodenal ... ORPHA:1198
Spondyloocular Syndrome
Mitral valve prolapse, Atrial septal defect, Dysplastic aortic valve, Unilateral cryptorchidism, ... OMIM:605822
Primary Intestinal Lymphangiectasia
Increased stool alpha1-antitrypsin concentration, Peritoneal effusion, Intestinal lymphangiectasi... ORPHA:90362
Spermatogenic Failure 14
Azoospermia, Male infertility, Round spermatid arrest OMIM:615842
Dominant Beta-Thalassemia
Reduced hemoglobin A, Extramedullary hematopoiesis, Persistence of hemoglobin F, Hypopituitarism,... ORPHA:231226
Gardner Syndrome
Gastrointestinal carcinoma, Adrenocortical adenoma, Adenomatous colonic polyposis, Prostate cance... ORPHA:79665
Immunodeficiency 60 And Autoimmunity
Decreased proportion of memory B cells, Pancytopenia, Splenomegaly, Crohn's disease, Colitis, Dec... OMIM:618394
Ciliary Dyskinesia, Primary, 18
Immotile sperm, Situs inversus totalis, Male infertility OMIM:614874
Immunodeficiency, Common Variable, 8, With Autoimmunity
Atrophic gastritis, Inflammation of the large intestine, Type I diabetes mellitus, Pancytopenia, ... OMIM:614700
Cryoglobulinemic Vasculitis
Gastrointestinal hemorrhage, Gastrointestinal infarctions, Abnormality of the liver, Renal insuff... ORPHA:91138
Musculocontractural Ehlers-Danlos Syndrome
Malrotation of small bowel, Functional abnormality of the bladder, Horseshoe kidney, Abnormal mes... ORPHA:2953
Bile Acid Synthesis Defect, Congenital, 2
Intrahepatic cholestasis, Splenomegaly, Hepatomegaly, Steatorrhea, Jaundice OMIM:235555
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome
Neonatal insulin-dependent diabetes mellitus, Anterior pituitary agenesis, Hypoplastic tricuspid ... ORPHA:2255
Familial Mediterranean Fever
Nephropathy, Nephrocalcinosis, Oral leukoplakia, Ascites, Gastrointestinal infarctions, Leukocyto... ORPHA:342
Histiocytosis-Lymphadenopathy Plus Syndrome
Type I diabetes mellitus, Pancreatic hypoplasia, Decreased response to growth hormone stimulation... OMIM:602782
Alpha-Thalassemia
Cholelithiasis, Extramedullary hematopoiesis, Microcytic anemia, Hemoglobin Barts, Hepatosplenome... ORPHA:846
Myopathy, Centronuclear, X-Linked
High palate, Cryptorchidism, Pyloric stenosis OMIM:310400
Autosomal Dominant Polycystic Kidney Disease
Chronic kidney disease, Abnormal urinary electrolyte concentration, Pituitary growth hormone cell... ORPHA:730
Kleefstra Syndrome
Gastroesophageal reflux, Supernumerary nipple, Tetralogy of Fallot, Vesicoureteral reflux, Renal ... ORPHA:261494
Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease
Exocrine pancreatic insufficiency, Hyperechogenic pancreas, Hypothyroidism, Delayed puberty, Abno... ORPHA:456312
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Hematochezia, Inflammation of the large intestine, Hepatic fibrosis, Dilated cardiomyopathy, Lymp... OMIM:615895
Thrombocytopenia, Paris-Trousseau Type
Thrombocytopenia, Pyloric stenosis OMIM:188025
Whim Syndrome
Lymphadenitis, Parotitis, Tetralogy of Fallot, Lymphopenia, Abnormal neutrophil morphology, Abnor... ORPHA:51636
Bone Marrow Failure Syndrome 3
Bone marrow hypocellularity, Aplastic anemia, Increased mean corpuscular volume, Persistence of h... OMIM:617052
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections
Colonic diverticula, Gastroesophageal reflux, Increased hepatic echogenicity, Gastric ulcer, Esop... OMIM:147060
Spermatogenic Failure 28
Non-obstructive azoospermia, Male infertility OMIM:618086
Tarp Syndrome
Extramedullary hematopoiesis, Horseshoe kidney, Tetralogy of Fallot, Cryptorchidism, Hydronephros... ORPHA:2886
Chops Syndrome
High, narrow palate, Gastroesophageal reflux, Horseshoe kidney, Vesicoureteral reflux, Cryptorchi... OMIM:616368
Vascular Hyalinosis
Protein-losing enteropathy, Hematochezia OMIM:277175
Beta-Thalassemia Major
Reduced hemoglobin A, Extramedullary hematopoiesis, Persistence of hemoglobin F, Hypopituitarism,... ORPHA:231214
Generalized Juvenile Polyposis/Juvenile Polyposis Coli
Hematochezia, Duodenal polyposis, Multiple gastric polyps, Small intestinal polyposis, Adenomatou... ORPHA:329971
Aarskog-Scott Syndrome
Elevated circulating luteinizing hormone level, Bilateral cryptorchidism, Decreased serum testost... OMIM:305400
Mixed Connective Tissue Disease
Nephropathy, Gastrointestinal hemorrhage, Gastroesophageal reflux, Xerostomia, Mediastinal lympha... ORPHA:809
Tremor-Nystagmus-Duodenal Ulcer Syndrome
Duodenal ulcer ORPHA:3350
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency
Unilateral renal agenesis, Hypospadias, Microphallus, Cryptorchidism, Pelvic kidney, Duodenal atr... ORPHA:468631
Meier-Gorlin Syndrome 7
Clitoral hypertrophy, Anal stenosis, Anteriorly placed anus, Duodenal stenosis, Breast aplasia, V... OMIM:617063
Reynolds Syndrome
Gastroesophageal reflux, Xerostomia, Ascites, Abnormal gastric mucosa morphology, Cirrhosis, Hepa... ORPHA:779
Heart Defects, Congenital, And Other Congenital Anomalies
Colon perforation, Microcolon, Total absence of the pericardium, Hypoplastic tricuspid valve, Pan... OMIM:600001
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Hepatosplenomegaly, Erythroid hyperplasia, Type II diabetes mellitus, Splenomegaly, Anisocytosis,... OMIM:616860
17Q12 Microdeletion Syndrome
Multicystic kidney dysplasia, Ureterocele, Renal insufficiency, Cryptorchidism, Shawl scrotum, Di... ORPHA:261265
Nephrotic Syndrome, Type 1
Gastroesophageal reflux, Congenital nephrotic syndrome, Renal insufficiency, Proteinuria, Diffuse... OMIM:256300
Tyrosinemia, Type I
Nephrocalcinosis, Gastrointestinal hemorrhage, Elevated urinary succinylacetone level, Hypertroph... OMIM:276700
Chromosome 13Q33-Q34 Deletion Syndrome
Penoscrotal transposition, Bifid scrotum, Anteriorly placed anus, Cryptorchidism, Left ventricula... OMIM:619148
Cholestasis, Progressive Familial Intrahepatic, 3
Intrahepatic cholestasis, Portal fibrosis, Portal inflammation, Ascites, Splenomegaly, Cirrhosis,... OMIM:602347
Trichohepatoenteric Syndrome 1
Bifid uvula, Galactosuria, Hepatic fibrosis, Cholestasis, Tetralogy of Fallot, Villous atrophy, S... OMIM:222470
Ciliary Dyskinesia, Primary, 14
Immotile sperm, Situs inversus totalis, Male infertility, Reduced sperm motility OMIM:613807
Postaxial Acrofacial Dysostosis
Supernumerary nipple, Cryptorchidism, Midgut malrotation, Micropenis, Cleft palate, Pyloric stenosis OMIM:263750
Parenteral Nutrition-Associated Cholestasis
Hepatic fibrosis, Cholelithiasis, Villous atrophy, Portal hypertension, Hepatic steatosis, Spleno... ORPHA:567983
Focal Dermal Hypoplasia
Multicystic kidney dysplasia, Gastroesophageal reflux, Horseshoe kidney, Ventricular septal defec... ORPHA:2092
Permanent Neonatal Diabetes Mellitus-Pancreatic And Cerebellar Agenesis Syndrome
Neonatal insulin-dependent diabetes mellitus, Aplasia/Hypoplasia of the pancreas ORPHA:65288
Ciliary Dyskinesia, Primary, 45
Male infertility OMIM:618801
Polycythemia Vera
Gastrointestinal hemorrhage, Increased hematocrit, Leukocytosis, Splenomegaly, Increased red bloo... OMIM:263300
Von Hippel-Lindau Syndrome
Polycythemia, Pancreatic cysts, Pheochromocytoma, Multiple renal cysts, Paraganglioma, Hepatic he... OMIM:193300
Apc-Related Attenuated Familial Adenomatous Polyposis
Gastrointestinal carcinoma, Adrenocortical adenoma, Adenomatous colonic polyposis, Duodenal adeno... ORPHA:247806
Plasminogen Deficiency, Type I
Nephritis, Duodenal ulcer, Nephrolithiasis OMIM:217090
Duodenal Ulcer, Hyperpepsinogenemic I
Duodenal ulcer OMIM:126850
Fanconi Anemia
Aplasia/Hypoplasia of the uvula, Cryptorchidism, Atrial septal defect, High palate, Anal atresia,... ORPHA:84
Chronic Granulomatous Disease
Pyloric stenosis, Splenomegaly, Tracheoesophageal fistula, Hepatomegaly, Abnormality of neutrophi... ORPHA:379
Familial Adenomatous Polyposis
Stomach cancer, Hepatoblastoma, Desmoid tumors, Neoplasm of the adrenal gland, Colorectal polypos... ORPHA:733
Cornelia De Lange Syndrome 1
Cryptorchidism, Ventricular septal defect, Hypoplastic labia majora, High palate, Ectopic kidney,... OMIM:122470
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome
Splenic infarction, Persistence of hemoglobin F, Increased red cell sickling tendency, Splenomega... ORPHA:251380
Immunodeficiency 82 With Systemic Inflammation
Reduced natural killer cell count, Anoperineal fistula, Hepatitis, Villous atrophy, Decreased pro... OMIM:619381
Dyskeratosis Congenita
Bone marrow hypocellularity, Abnormality of neutrophils, Oral leukoplakia, Abnormal morphology of... ORPHA:1775
Liver Disease, Severe Congenital
Portal inflammation, Dilatation of the ventricular cavity, Hepatic steatosis, Ventricular septal ... OMIM:619991
Proximal 16P11.2 Microdeletion Syndrome
Multicystic kidney dysplasia, Gastroesophageal reflux, Abnormal heart morphology, Abnormal aortic... ORPHA:261197
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Protein-losing enteropathy, Hematochezia, Gastrointestinal carcinoma, Xerostomia, Anemia, Glossit... OMIM:175500
Tremor, Nystagmus, And Duodenal Ulcer
Duodenal ulcer OMIM:190310
Short-Rib Thoracic Dysplasia 12
Renal hypoplasia, Periportal fibrosis, Hamartoma of tongue, Intestinal malrotation, Ascites, Medi... OMIM:269860
Familial Mediterranean Fever
Stage 5 chronic kidney disease, Leukocytosis, Splenomegaly, Crohn's disease, Orchitis, Peritoniti... OMIM:249100
Congenital Bilateral Absence Of Vas Deferens
Obstructive azoospermia, Oligozoospermia, Male infertility ORPHA:48
Gastrointestinal Ulceration, Recurrent, With Dysfunctional Platelets
Duodenal ulcer, Gastric ulcer, Iron deficiency anemia, Esophageal ulceration OMIM:618372
Mosaic Trisomy 16
Meckel diverticulum, Anteriorly placed anus, Horseshoe kidney, Abnormal heart morphology, Ventric... ORPHA:1708
Pyloric Stenosis, Infantile Hypertrophic, 1
Pyloric stenosis OMIM:179010
Microvillus Inclusion Disease
Nephrocalcinosis, Villous atrophy, Abnormal small intestinal villus morphology, Abnormal renal ph... ORPHA:2290
Epidermolysis Bullosa, Junctional 5B, With Pyloric Atresia
Urethrovesical occlusion, Congenital pyloric atresia, Esophageal atresia OMIM:226730
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Irregular menstruation, Hepatic fibrosis, Renal tubular acidosis, Splenomegaly, Dysmenorrhea, Pol... ORPHA:79240
Primary Ciliary Dyskinesia
Abnormal sperm motility, Female infertility, Atrial situs ambiguous, Abnormal heart morphology, A... ORPHA:244
Cutis Laxa, Autosomal Recessive, Type Ic
Accessory spleen, Multiple bladder diverticula, Gastroesophageal reflux, Ascites, Right ventricul... OMIM:613177
Fraser Syndrome 1
Renal hypoplasia, Clitoral hypertrophy, Abnormal heart morphology, Abnormal small intestine morph... OMIM:219000
Lymphatic Malformation 6
Gastroesophageal reflux, Intestinal lymphangiectasia, Ascites, Splenomegaly, Hypothyroidism, Atri... OMIM:616843
Spermatogenic Failure 13
Azoospermia, Male infertility OMIM:615841
Tropical Pancreatitis
Insulin-dependent but ketosis-resistant diabetes, Pancreatic adenocarcinoma, Chronic calcifying p... ORPHA:103918
Congenital Enterocyte Heparan Sulfate Deficiency
Protein-losing enteropathy, Hematochezia ORPHA:103910
Scedosporiosis
Abnormal jejunum morphology, Diabetes mellitus, Endocarditis, Pericarditis ORPHA:449280
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency
Normocytic anemia, Cholelithiasis, Splenomegaly, Cholecystitis, Reticulocytosis, Nonspherocytic h... OMIM:235700
Alveolar Echinococcosis
Biliary cirrhosis, Abnormal mesentery morphology, Abnormal pericardium morphology, Portal hyperte... ORPHA:284
Spermatogenic Failure, X-Linked, 4
Azoospermia, Male infertility OMIM:301077
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Lymphopenia, Hepatosplenomegaly, Abnormal intestine morphology, Autoimmune thrombocytopenia, Vill... ORPHA:391487
Ciliary Dyskinesia, Primary, 34
Immotile sperm, Male infertility OMIM:617091
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome
Supernumerary nipple, Abnormal heart morphology, Submucous cleft hard palate, Ventricular septal ... ORPHA:457279
Primary Sclerosing Cholangitis
Cholestasis, Hepatosplenomegaly, Abnormal biliary tract morphology, Cirrhosis, Hepatomegaly, Jaun... ORPHA:171
Gaucher Disease Type 1
Splenic infarction, Cholelithiasis, Ascites, Hepatosplenomegaly, Hypersplenism, Portal hypertensi... ORPHA:77259
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Abnormally low T cell receptor excision circle level, Genital ulcers, Lymphopenia, Lymph node hyp... OMIM:602450
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly
Ambiguous genitalia, Pancreatic fibrosis, Ventricular septal defect OMIM:615503
Immunodeficiency 113 With Autoimmunity And Autoinflammation
Minimal change glomerulonephritis, Hematochezia, Hepatitis, Leukocytosis, Splenomegaly, Autoimmun... OMIM:620565
Chylomicron Retention Disease
Steatorrhea, Accumulation of lipid droplets in small-bowel enterocytes OMIM:246700
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Cholelithiasis, Hepatitis, Increased mean corpuscular hemoglobin concentration, Splenomegaly, Ret... OMIM:194380
Senior-Loken Syndrome 8