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Gene: Pramel12 MGI:2140473

Gene Summary

Name:

PRAME like 12

Synonyms:

4732496O08Rik, Pramef8

Order Alleles

IMPC Data Collections

Body Weight Measurements
No Embryo Imaging Data
Viability Data

IMPC Phenotype Summary

Significant

Not Significant

Not tested

View all our phenotype data below

Phenotypes

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

Phenotype	Allele	Zyg	Life Stage
abnormal heart morphology	Pramel12^em1(IMPC)Mbp	HOM	Early adult
small kidney	Pramel12^em1(IMPC)Mbp	HOM	Early adult
abnormal cecum morphology	Pramel12^em1(IMPC)Mbp	HOM	Late adult
abnormal jejunum morphology	Pramel12^em1(IMPC)Mbp	HOM	Late adult
abnormal seminal vesicle morphology	Pramel12^em1(IMPC)Mbp	HOM	Late adult
abnormal heart morphology	Pramel12^em1(IMPC)Mbp	HOM	Late adult
abnormal eye morphology	Pramel12^em1(IMPC)Mbp	HOM	Late adult
enlarged seminal vesicle	Pramel12^em1(IMPC)Mbp	HOM	Late adult
male infertility	Pramel12^em1(IMPC)Mbp	HOM	Early adult
enlarged spleen	Pramel12^em1(IMPC)Mbp	HOM	Late adult
small testis	Pramel12^em1(IMPC)Mbp	HOM	Late adult
small kidney	Pramel12^em1(IMPC)Mbp	HOM	Late adult
abnormal testis morphology	Pramel12^em1(IMPC)Mbp	HOM	Late adult
abnormal urinary bladder morphology	Pramel12^em1(IMPC)Mbp	HOM	Late adult
abnormal kidney morphology	Pramel12^em1(IMPC)Mbp	HOM	Early adult
abnormal duodenum morphology	Pramel12^em1(IMPC)Mbp	HOM	Late adult
small heart	Pramel12^em1(IMPC)Mbp	HOM	Early adult
abnormal pancreas morphology	Pramel12^em1(IMPC)Mbp	HOM	Late adult
small heart	Pramel12^em1(IMPC)Mbp	HOM	Late adult
abnormal spleen morphology	Pramel12^em1(IMPC)Mbp	HOM	Late adult
abnormal stomach morphology	Pramel12^em1(IMPC)Mbp	HOM	Late adult
abnormal kidney morphology	Pramel12^em1(IMPC)Mbp	HOM	Late adult

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Histopathology

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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.

Human diseases associated with Pramel12 (0 diseases)
Human diseases predicted to be associated with Pramel12 (595 diseases)

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	Matching phenotypes	Source
Spermatogenic Failure 35	Short sperm flagella, Male infertility, Absent sperm axoneme central pair complex, Absent sperm f...	OMIM:618341
Spermatogenic Failure 72	Short sperm flagella, Male infertility, Absent sperm axoneme central pair complex, Reduced progre...	OMIM:619867
Spermatogenic Failure 34	Short sperm flagella, Male infertility, Absent sperm axoneme central pair complex, Reduced sperm ...	OMIM:618153
Spermatogenic Failure, X-Linked, 5	Short sperm flagella, Male infertility, Reduced sperm motility, Reduced progressive sperm motilit...	OMIM:301099
Spermatogenic Failure 20	Short sperm flagella, Male infertility, Absent sperm flagella, Coiled sperm flagella	OMIM:617593
Spermatogenic Failure 37	Short sperm flagella, Male infertility, Reduced sperm motility, Absent sperm flagella, Irregularl...	OMIM:618429
Spermatogenic Failure 18	Short sperm flagella, Male infertility, Reduced sperm motility, Absent sperm flagella, Irregularl...	OMIM:617576
Spermatogenic Failure 33	Short sperm flagella, Male infertility, Reduced sperm motility, Absent sperm flagella, Irregularl...	OMIM:618152
Spermatogenic Failure 46	Short sperm flagella, Male infertility, Reduced sperm motility, Absent sperm flagella, Irregularl...	OMIM:619095
Spermatogenic Failure 27	Short sperm flagella, Male infertility, Absent sperm axoneme central pair complex, Reduced sperm ...	OMIM:617965
Spermatogenic Failure 17	Male infertility	OMIM:617214
Spermatogenic Failure 43	Male infertility, Absent sperm axoneme central pair complex, Reduced sperm motility, Coiled sperm...	OMIM:618751
Spermatogenic Failure 19	Short sperm flagella, Male infertility, Reduced sperm motility, Coiled sperm flagella, Absent spe...	OMIM:617592
Spermatogenic Failure 82	Short sperm flagella, Male infertility, Coiled sperm flagella, Reduced progressive sperm motility...	OMIM:620353
Spermatogenic Failure 49	Short sperm flagella, Male infertility, Reduced sperm motility, Coiled sperm flagella, Absent spe...	OMIM:619144
Spermatogenic Failure 45	Short sperm flagella, Male infertility, Reduced sperm motility, Coiled sperm flagella, Absent spe...	OMIM:619094
Spermatogenic Failure 84	Short sperm flagella, Male infertility, Oligozoospermia, Reduced sperm motility, Reduced progress...	OMIM:620409
Spermatogenic Failure 65	Short sperm flagella, Male infertility, Oligozoospermia, Abnormal sperm mid-piece morphology, Red...	OMIM:619712
Spermatogenic Failure 56	Short sperm flagella, Male infertility, Oligozoospermia, Reduced sperm motility, Reduced progress...	OMIM:619515
Spermatogenic Failure 83	Altered location of the longitudinal column in the fibrous sheath, Male infertility, Reduced sper...	OMIM:620354
Spermatogenic Failure, X-Linked, 3	Short sperm flagella, Male infertility, Oligozoospermia, Reduced sperm motility, Absent sperm fla...	OMIM:301059
Spermatogenic Failure 40	Short sperm flagella, Male infertility, Oligozoospermia, Immotile sperm, Absent sperm flagella, C...	OMIM:618664
Spermatogenic Failure 80	Short sperm flagella, Male infertility, Oligozoospermia, Reduced progressive sperm motility, Abse...	OMIM:620222
Spermatogenic Failure 76	Short sperm flagella, Male infertility, Oligozoospermia, Reduced sperm motility, Irregularly shap...	OMIM:620084
Spermatogenic Failure 58	Short sperm flagella, Male infertility, Oligozoospermia, Reduced progressive sperm motility, Immo...	OMIM:619585
Spermatogenic Failure 54	Short sperm flagella, Male infertility, Abnormal sperm axoneme morphology, Tapered sperm head, Ol...	OMIM:619379
Spermatogenic Failure 42	Short sperm flagella, Male infertility, Microcephalic sperm head, Tapered sperm head, Reduced spe...	OMIM:618745
Spermatogenic Failure 47	Short sperm flagella, Male infertility, Oligozoospermia, Immotile sperm, Absent sperm flagella	OMIM:619102
Spermatogenic Failure 39	Short sperm flagella, Male infertility, Tapered sperm head, Oligozoospermia, Reduced sperm motili...	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	Male infertility, Oligozoospermia, Coiled sperm flagella, Reduced sperm motility	OMIM:620196
Spermatogenic Failure 7	Male infertility, Oligozoospermia, Immotile sperm, Reduced sperm motility	OMIM:612997
Spermatogenic Failure 11	Abnormal sperm morphology, Male infertility, Oligozoospermia, Reduced sperm motility	OMIM:615081
Spermatogenic Failure 10	Abnormal sperm morphology, Male infertility, Oligozoospermia, Reduced sperm motility	OMIM:614822
Spermatogenic Failure 62	Male infertility, Spermatocyte maturation arrest, Non-obstructive azoospermia	OMIM:619673
Spermatogenic Failure 61	Male infertility, Spermatocyte maturation arrest, Non-obstructive azoospermia	OMIM:619672
Spermatogenic Failure 88	Male infertility, Spermatocyte maturation arrest, Non-obstructive azoospermia	OMIM:620547
Spermatogenic Failure 73	Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest	OMIM:619878
Spermatogenic Failure 59	Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest	OMIM:619645
Spermatogenic Failure 60	Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest	OMIM:619646
Spermatogenic Failure 74	Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest	OMIM:619937
Spermatogenic Failure 41	Short sperm flagella, Male infertility, Tapered sperm head, Oligozoospermia, Immotile sperm	OMIM:618670
Male Infertility Due To Acephalic Spermatozoa	Male infertility, Acephalic spermatozoa, Oligozoospermia, Abnormal sperm mid-piece morphology, Re...	ORPHA:529970
Spermatogenic Failure 48	Male infertility, Oligozoospermia, Spermatogenesis maturation arrest, Azoospermia	OMIM:619108
Spermatogenic Failure 36	Male infertility, Abnormal sperm morphology	OMIM:618420
Spermatogenic Failure 78	Male infertility, Tapered sperm head, Microcephalic sperm head	OMIM:620170
Spermatogenic Failure 1	Male infertility, Oligozoospermia, Cryptozoospermia	OMIM:258150
Syndromic Recessive X-Linked Ichthyosis	Acute leukemia, Unilateral renal agenesis, Testicular seminoma, Hypogonadism, Abnormal stomach mo...	ORPHA:281090
Martinez-Frias Syndrome	Annular pancreas, Hypoplasia of the gallbladder, Hypospadias, Pancreatic hypoplasia, Intestinal h...	OMIM:601346
Spermatogenic Failure 25	Male infertility, Spermatocyte maturation arrest, Cryptozoospermia, Non-obstructive azoospermia	OMIM:617960
Spermatogenic Failure 29	Male infertility, Immotile sperm, Non-obstructive azoospermia	OMIM:618091
Spermatogenic Failure 5	Male infertility, Macrozoospermia, Multiflagellar spermatozoa	OMIM:243060
Spermatogenic Failure 86	Male infertility, Abnormal sperm head morphology, Acephalic spermatozoa, Acrosomal hypoplasia, Ru...	OMIM:620499
Spermatogenic Failure 16	Acephalic spermatozoa, Male infertility, Reduced sperm motility	OMIM:617187
Spermatogenic Failure 21	Acephalic spermatozoa, Male infertility, Reduced sperm motility	OMIM:617644
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm	Male infertility, Abnormal sperm morphology, Immotile sperm	OMIM:608653
Spermatogenic Failure 22	Male infertility, Cryptozoospermia, Non-obstructive azoospermia	OMIM:617706
Serrated Polyposis Syndrome	Ovarian neoplasm, Gastric diverticulum, Colorectal polyposis, Adenomatous colonic polyposis, Pros...	ORPHA:157798
Spermatogenic Failure 57	Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest	OMIM:619528
Spermatogenic Failure 70	Male infertility, Reduced sperm motility, Oligozoospermia, Azoospermia	OMIM:619828
Spermatogenic Failure 64	Male infertility, Oligozoospermia, Abnormal sperm head morphology, Reduced progressive sperm moti...	OMIM:619696
Autoinflammatory Disease, Familial, Behcet-Like 3	Ileitis, Vaginal mucosal ulceration	OMIM:618287
Spermatogenic Failure 63	Male infertility, Oligozoospermia, Reduced progressive sperm motility	OMIM:619689
Deafness-Infertility Syndrome	Male infertility, Abnormal sperm head morphology, Abnormal spermatogenesis, Reduced sperm motilit...	OMIM:611102
Spermatogenic Failure 87	Male infertility, Ruffled acrosome	OMIM:620500
Spermatogenic Failure 31	Acephalic spermatozoa, Male infertility	OMIM:618112
Spermatogenic Failure 53	Male infertility, Tapered sperm head	OMIM:619258
Spermatogenic Failure 26	Acephalic spermatozoa, Male infertility	OMIM:617961
Spermatogenic Failure 30	Male infertility, Spermatogenesis maturation arrest, Cryptozoospermia, Azoospermia	OMIM:618110
Congenital Alveolar Capillary Dysplasia	Bicuspid aortic valve, Annular pancreas, Pulmonary valve atresia, Atrioventricular canal defect, ...	ORPHA:210122
Spermatogenic Failure, X-Linked, 6	Short sperm flagella, Male infertility, Absent sperm axoneme central pair complex, Microcephalic ...	OMIM:301101
Matthew-Wood Syndrome	Annular pancreas, Aplasia/Hypoplasia of the pancreas, Vesicoureteral reflux, Abnormal spleen morp...	ORPHA:2470
Spermatogenic Failure 50	Male infertility, Spermatogenesis maturation arrest, Azoospermia	OMIM:619145
Partial Chromosome Y Deletion	Male infertility, Abnormal spermatogenesis, Oligozoospermia, Non-obstructive azoospermia	ORPHA:1646
Meckel Diverticulum	Meckel diverticulum	OMIM:155140
Blood Group, Cromer System	Protein-losing enteropathy	OMIM:613793
Spermatogenic Failure 52	Male infertility, Azoospermia	OMIM:619202
Spermatogenic Failure, Y-Linked, 2	Male infertility, Azoospermia	OMIM:415000
Spermatogenic Failure 4	Male infertility, Azoospermia	OMIM:270960
Spermatogenic Failure 23	Male infertility, Azoospermia	OMIM:617707
Spermatogenic Failure 32	Male infertility, Non-obstructive azoospermia	OMIM:618115
Spermatogenic Failure 71	Male infertility, Non-obstructive azoospermia	OMIM:619831
Appendicitis, Proneness To	Abnormal large intestine morphology	OMIM:107700
Alpha-Heavy Chain Disease	Hepatomegaly, Anemia, Lymphadenopathy, Ascites, Splenomegaly, Abnormal small intestine morphology	ORPHA:100025
Perlman Syndrome	High, narrow palate, Hepatomegaly, Hyperinsulinemia, Abnormal pancreas morphology, Hypoplasia of ...	ORPHA:2849
Spermatogenic Failure 81	Male infertility, Oligozoospermia, Acrosomal hypoplasia, Reduced progressive sperm motility	OMIM:620277
Heterotaxy, Visceral, 11, Autosomal, With Male Infertility	Situs inversus totalis, Primum atrial septal defect, Partial atrioventricular canal defect, Intes...	OMIM:619608
Gastrointestinal Defects And Immunodeficiency Syndrome 1	Autoimmune hemolytic anemia, Intestinal obstruction, Ileal atresia, Impaired lymphocyte transform...	OMIM:243150
Hyperinsulinemic Hypoglycemia, Familial, 2	Nesidioblastosis, Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia	OMIM:601820
Mitchell-Riley Syndrome	Annular pancreas, Biliary atresia, Meckel diverticulum, Pancreatic hypoplasia, Cholestasis, Ascit...	OMIM:615710
Renal-Hepatic-Pancreatic Dysplasia 1	Enlarged kidney, Hyperechogenic pancreas, Cholestasis, Biliary cirrhosis, Aortic valve stenosis, ...	OMIM:208540
Fanconi Anemia, Complementation Group W	Renal hypoplasia, Decreased response to growth hormone stimulation test, Polysplenia, Duodenal at...	OMIM:617784
Mantle Cell Lymphoma	Splenomegaly, Abnormality of the gastrointestinal tract, Lymphadenopathy	ORPHA:52416
Dietary Iron Overload Disease	Abnormal adrenal morphology, Hepatomegaly, Abnormal pancreas morphology, Hepatocellular carcinoma...	ORPHA:139507
Azoospermia, Obstructive, With Nephrolithiasis	Obstructive azoospermia, Male infertility, Nephrolithiasis	OMIM:301060
Deafness-Infertility Syndrome	Male infertility, Azoospermia	ORPHA:94064
Duodenal Atresia	Annular pancreas, Abnormality of the pancreas, Duodenal atresia	ORPHA:1203
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome	Esophageal neoplasm, Gastrointestinal hemorrhage, Hepatomegaly, Abnormal esophagus physiology, Ga...	ORPHA:2198
Alpha-1-Antitrypsin Deficiency	Gastric varix, Cirrhosis, Hepatocellular carcinoma, Splenomegaly	OMIM:613490
Hemochromatosis, Type 1	Cirrhosis, Hepatomegaly, Azoospermia, Hepatocellular carcinoma, Cardiomyopathy, Ascites, Impotenc...	OMIM:235200
Ciliary Dyskinesia, Primary, 51	Short sperm flagella, Situs inversus totalis, Male infertility, Oligozoospermia, Reduced sperm mo...	OMIM:620438
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility	Situs inversus totalis, Male infertility, Dextrocardia	OMIM:618948
Umbilical Cord Ulceration-Intestinal Atresia Syndrome	Anemia, Abnormal tricuspid valve morphology, Intestinal atresia, Ventricular septal defect, Duode...	ORPHA:3405
Hypogonadism, Male	Testicular atrophy, Male hypogonadism, Micropenis, Hypospadias	OMIM:241100
Fanconi Anemia, Complementation Group F	Decreased response to growth hormone stimulation test, Anemia, Pelvic kidney, Vesicoureteral refl...	OMIM:603467
Spermatogenic Failure, X-Linked, 7	Male infertility, Multiflagellar spermatozoa, Reduced sperm motility, Globozoospermia, Excess res...	OMIM:301106
Intrinsic Factor And R Binder, Combined Congenital Deficiency Of	Megaloblastic anemia, Absence of intrinsic factor	OMIM:243320
Spermatogenic Failure 85	Male infertility, Acephalic spermatozoa, Globozoospermia, Reduced progressive sperm motility, Coi...	OMIM:620490
Isochromosomy Yp	Male infertility, Azoospermia	ORPHA:98797
Spermatogenic Failure 38	Male infertility, Abnormal sperm head morphology, Tapered sperm head, Oligozoospermia, Reduced sp...	OMIM:618433
Persistent Mullerian Duct Syndrome, Types I And Ii	Male infertility	OMIM:261550
Fanconi Anemia, Complementation Group B	Aplastic anemia, Esophageal atresia, Tracheoesophageal fistula, Hypergonadotropic hypogonadism, T...	OMIM:300514
Annular Pancreas	High intestinal obstruction, Annular pancreas, Duodenal stenosis	ORPHA:675
Pancreas, Annular	High intestinal obstruction, Annular pancreas, Duodenal stenosis	OMIM:167750
Dextrocardia	Situs inversus totalis, Dextrocardia, Meckel diverticulum, Pancreatic hypoplasia, Abnormality of ...	ORPHA:1666
Spermatogenic Failure, X-Linked, 2	Male infertility, Spermatogenesis maturation arrest, Testicular atrophy, Azoospermia	OMIM:309120
Fryns Syndrome	Aganglionic megacolon, Hypospadias, Gastroesophageal reflux, Duodenal atresia, Ectopic anus, Vesi...	ORPHA:2059
Immunodeficiency 104	Hepatomegaly, Lymphadenopathy, Gastroesophageal reflux, T lymphocytopenia, Splenomegaly	OMIM:608971
Ciliary Dyskinesia, Primary, 50	Short sperm flagella, Male infertility, Reduced sperm motility, Reduced progressive sperm motilit...	OMIM:620356
Hepatoportal Sclerosis	Abnormal liver parenchyma morphology, Gastrointestinal hemorrhage, Jaundice, Anemia, Gastric vari...	ORPHA:64743
Feingold Syndrome	Annular pancreas, Esophageal atresia, Abnormality of the spleen, Duodenal atresia	ORPHA:1305
Visceral Myopathy 2	Intestinal obstruction, Rectal prolapse, Gastroesophageal reflux, Intestinal pseudo-obstruction, ...	OMIM:619350
Adams-Oliver Syndrome 6	Truncus arteriosus, Esophageal varix, Portal hypertension, Renal hypoplasia, Splenomegaly, Hepati...	OMIM:616589
Coproporphyria, Hereditary	Elevated urinary delta-aminolevulinic acid, Jaundice, Hepatomegaly, Increased urinary porphobilin...	OMIM:121300
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome	Hepatomegaly, Protein-losing enteropathy, Abnormal fallopian tube morphology, Pancreatic lymphang...	ORPHA:1655
Kallmann Syndrome With Spastic Paraplegia	Unilateral renal agenesis, Decreased circulating follicle stimulating hormone concentration, Decr...	OMIM:308750
Hemochromatosis, Type 2B	Cirrhosis, Hepatomegaly, Anemia, Secondary amenorrhea, Cardiomyopathy, Splenomegaly, Hypogonadism...	OMIM:613313
Intellectual Developmental Disorder, Autosomal Dominant 53	Cryptorchidism, Intestinal malrotation, Hydronephrosis, Gastrointestinal dysmotility, Ventricular...	OMIM:617798
Spermatogenic Failure 44	Acephalic spermatozoa, Male infertility, Reduced sperm motility	OMIM:619044
Serkal Syndrome	Abnormality of the adrenal glands, Hypospadias, Ventricular septal defect, Pulmonic stenosis, Mal...	ORPHA:139466
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia	Unilateral renal agenesis, Azoospermia, Decreased circulating follicle stimulating hormone concen...	OMIM:308700
Macrocephaly-Intellectual Disability-Autism Syndrome	Lymphoid nodular hyperplasia, Thyroid carcinoma, Intestinal polyposis, Hepatic steatosis, Penile ...	ORPHA:210548
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency	Hepatomegaly, Lymphadenopathy, Decreased proportion of class-switched memory B cells, Thyroiditis...	OMIM:619375
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly	Hepatomegaly, Protein-losing enteropathy, Pancreatic lymphangiectasis, Ventricular septal defect,...	OMIM:235255
Hemochromatosis, Type 2A	Cirrhosis, Hepatomegaly, Azoospermia, Infertility, Cardiomyopathy, Splenomegaly, Amenorrhea, Dila...	OMIM:602390
Spermatogenic Failure 75	Male infertility, Spermatocyte maturation arrest, Non-obstructive azoospermia	OMIM:619949
Spermatogenic Failure 6	Male infertility, Globozoospermia, Decreased acrosin in sperm head	OMIM:102530
Bronchogenic Cyst	Abnormal peritoneum morphology, Abnormal esophagus morphology, Abnormal pericardium morphology, A...	ORPHA:2357
Heterotaxy, Visceral, 1, X-Linked	Enlarged kidney, Biliary atresia, Posteriorly placed anus, Pulmonic stenosis, Cardiomegaly, Right...	OMIM:306955
Mirror Polydactyly-Vertebral Segmentation-Limbs Defects Syndrome	Duodenal atresia, Aplasia of the thymus	ORPHA:3004
Isolated Follicle Stimulating Hormone Deficiency	Delayed puberty, Male hypogonadism, Azoospermia, Decreased female libido, Oligozoospermia, Delaye...	ORPHA:52901
Craniofacial Dyssynostosis With Short Stature	Hypospadias, Cryptorchidism, Pyloric stenosis, Ventricular septal defect, Horseshoe kidney	OMIM:218350
Acrocephalopolydactylous Dysplasia	Enlarged kidney, Hepatomegaly, Hypoplasia of the small intestine, Ascites, Polysplenia, Hypoplast...	OMIM:200995
Tyrosinemia Type 1	Splenomegaly, Hepatomegaly, Hepatocellular carcinoma, Generalized aminoaciduria	ORPHA:882
Wolfram Syndrome 1	Hydroureter, Diabetes insipidus, Neurogenic bladder, Megaloblastic anemia, Cardiomyopathy, Hypoth...	OMIM:222300
Congenital Disorder Of Glycosylation, Type Ib	Cirrhosis, Lymphangiectasis, Hepatomegaly, Steatorrhea, Protein-losing enteropathy, Proximal tubu...	OMIM:602579
Congenital Disorder Of Glycosylation, Type Ih	Perimembranous ventricular septal defect, Hepatomegaly, Anemia, Protein-losing enteropathy, Chole...	OMIM:608104
Heterotaxy, Visceral, 5, Autosomal	Right atrial isomerism, Ureteral duplication, Atrioventricular canal defect, Double inlet left ve...	OMIM:270100
Pyloric Atresia	Congenital pyloric atresia	OMIM:265950
Fryns Syndrome	Ureteral duplication, Aganglionic megacolon, Hypospadias, Esophageal atresia, Meckel diverticulum...	OMIM:229850
Portal Hypertension, Noncirrhotic, 1	Esophageal varix, Hepatomegaly, Splenomegaly, Portal hypertension	OMIM:617068
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked	Intestinal pseudo-obstruction, Congenital shortened small intestine, Intestinal malrotation, Incr...	OMIM:300048
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins	Meckel diverticulum, Tracheoesophageal fistula, Intestinal malrotation, Dysplastic tricuspid valv...	OMIM:265380
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull	Intestinal malrotation, Testicular atrophy	OMIM:601163
Chronic Intestinal Pseudoobstruction	Pyloric stenosis, Intestinal malrotation, Abnormal intestine morphology, Abnormal platelet morpho...	ORPHA:2978
Mosaic Variegated Aneuploidy Syndrome 1	Hypospadias, Multicystic kidney dysplasia, Bifid scrotum, Renal cyst, Pulmonic stenosis, Cleft pa...	OMIM:257300
Alg1-Cdg	Protein-losing enteropathy, Abnormality of the gastrointestinal tract, Cardiomyopathy, Nephrotic ...	ORPHA:79327
Isochromosomy Yq	Male infertility, Azoospermia	ORPHA:98798
Spermatogenic Failure 66	Male infertility, Globozoospermia	OMIM:619799
Spermatogenic Failure 9	Male infertility, Globozoospermia	OMIM:613958
Spermatogenic Failure 67	Male infertility, Globozoospermia	OMIM:619803
Spermatogenic Failure 68	Male infertility, Globozoospermia	OMIM:619805
Spermatogenic Failure 69	Male infertility, Globozoospermia	OMIM:619826
Familial Adenomatous Polyposis 4	Gastric adenocarcinoma, Renal cyst, Ovarian cyst, Thyroid adenoma, Adenomatous colonic polyposis,...	OMIM:617100
Microgastria-Limb Reduction Defect Syndrome	Hepatomegaly, Esophageal atresia, Rectovaginal fistula, Gastroesophageal reflux, Microgastria, Pe...	ORPHA:2538
Hypereosinophilic Syndrome, Idiopathic	Endocardial fibrosis, Hepatomegaly, Restrictive cardiomyopathy, Myeloproliferative disorder, Sple...	OMIM:607685
Spinal And Bulbar Muscular Atrophy, X-Linked 1	Decreased fertility, Testicular atrophy, Dysphagia	OMIM:313200
Oculoskeletodental Syndrome	Hepatomegaly, Protein-losing enteropathy, Hypercalciuria, Mucopolysacchariduria, Hypothyroidism, ...	OMIM:618440
Ciliary Dyskinesia, Primary, 36, X-Linked	Situs inversus totalis, Male infertility	OMIM:300991
Inflammatory Bowel Disease (Crohn Disease) 30	Protein-losing enteropathy, Gastritis, Pancolitis, Abnormal intestine morphology, Esophagitis, Du...	OMIM:619079
Immunodeficiency 76	Lymphadenopathy, B lymphocytopenia, T lymphocytopenia, Splenomegaly, Lymphopenia, Colitis	OMIM:619164
Symptomatic Form Of Hfe-Related Hemochromatosis	Cirrhosis, Hepatomegaly, Erectile dysfunction, Hepatocellular carcinoma, Cardiomyopathy, Decrease...	ORPHA:465508
Thoraco-Abdominal Enteric Duplication	Hepatomegaly, Abnormal tricuspid valve morphology, Dextrocardia, Intestinal malrotation, Duodenal...	ORPHA:1759
Nk-Cell Enteropathy	Duodenal ulcer, Gastroesophageal reflux, Increased T cell count, Abnormal gastric mucosa morpholo...	ORPHA:263665
Ornithine Transcarbamylase Deficiency	Pyloric stenosis, Splenomegaly, Aminoaciduria	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	Hematemesis, Enlarged kidney, Hepatomegaly, Periportal fibrosis, Tubulointerstitial fibrosis, Pol...	OMIM:263200
Lethal Hemolytic Anemia-Genital Anomalies Syndrome	Anemia, Hypospadias, Hypoplasia of penis, Ascites, Abnormality of the ureter, Splenomegaly	ORPHA:1046
Hennekam Lymphangiectasia-Lymphedema Syndrome 3	Protein-losing enteropathy, Hydrocele testis	OMIM:618154
Microform Holoprosencephaly	Maternal diabetes, Hypoplasia of penis, Panhypopituitarism, Hypothyroidism, Cleft palate, Tetralo...	ORPHA:280200
Dubin-Johnson Syndrome	Jaundice, Hepatomegaly, Abnormal gastric mucosa morphology, Biliary tract abnormality, Abnormalit...	ORPHA:234
Polyposis of gastric fundus without polyposis coli	Abnormal gastric mucosa morphology, Multiple gastric polyps	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	Steatorrhea, Aganglionic megacolon, Primary hypothyroidism, Small intestinal dysmotility, Cholest...	ORPHA:95427
Intrinsic Factor Deficiency	Increased mean corpuscular volume, Megaloblastic anemia, Megaloblastic erythroid hyperplasia, Abs...	OMIM:261000
Cholesteryl Ester Storage Disease	Cirrhosis, Jaundice, Hepatomegaly, Esophageal varix, Splenomegaly, Adrenal calcification	ORPHA:75234
Spermatogenic Failure 2	Male infertility, Oligozoospermia, Non-obstructive azoospermia, Azoospermia	OMIM:108420
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease	Anemia, Acute myeloid leukemia, Hemophagocytosis, Pancytopenia, Hepatocellular carcinoma, Prostat...	ORPHA:158057
Feingold Syndrome 1	Annular pancreas, Tricuspid atresia, Gastrointestinal atresia, Esophageal atresia, Accessory sple...	OMIM:164280
Trigonocephaly 1	Meckel diverticulum, High, narrow palate, Long penis	OMIM:190440
Spermatogenic Failure 15	Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest	OMIM:616950
Microcephalic Primordial Dwarfism, Montreal Type	Cryptorchidism, Congenital pyloric atresia	ORPHA:2617
Intellectual Developmental Disorder, X-Linked 112	Ectopic kidney, Hypospadias, Horseshoe kidney, Gastroesophageal reflux, Enuresis nocturna, Vesico...	OMIM:301111
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 8	Gastric varix, Increased mean corpuscular volume, Esophageal varix, Portal hypertension, Thromboc...	OMIM:620367
Mungan Syndrome	Perimembranous ventricular septal defect, Intestinal pseudo-obstruction, Vesicoureteral reflux, B...	OMIM:611376
Glycogen Storage Disease Ib	Delayed puberty, Enlarged kidney, Hepatomegaly, Pancreatitis, Decreased glomerular filtration rat...	OMIM:232220
Activated Pi3K-Delta Syndrome	Hepatomegaly, Lymphadenopathy, Recurrent tonsillitis, B lymphocytopenia, Abnormal intestine morph...	ORPHA:397596
Lymphoproliferative Syndrome, X-Linked, 2	Aplastic anemia, Hepatomegaly, Hemophagocytosis, Pancytopenia, Inflammation of the large intestin...	OMIM:300635
Autoinflammatory Syndrome, Familial, Behcet-Like 1	Genital ulcers, Ileal ulcer, Thrombocytopenia, Lymphopenia, Hemolytic anemia, Colitis	OMIM:616744
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease	Acute kidney injury, Absent vas deferens, Jaundice, Abnormality of endocrine pancreas physiology,...	ORPHA:93111
Intellectual Disability-Hypotonia-Brachycephaly-Pyloric Stenosis-Cryptorchidism Syndrome	Pyloric stenosis, High palate, Bilateral cryptorchidism	ORPHA:314575
Hardikar Syndrome	Hematemesis, Bilateral cleft palate, Intrahepatic bile duct dilatation, Cholestasis, Intestinal m...	OMIM:301068
Immunodeficiency 84	B lymphocytopenia, Splenomegaly, Perianal abscess	OMIM:619437
Feingold Syndrome Type 1	Gastrointestinal atresia, Tricuspid atresia, Esophageal atresia, Vesicoureteral reflux, Tricuspid...	ORPHA:391641
Congenital Bile Acid Synthesis Defect Type 1	Cirrhosis, Jaundice, Hepatomegaly, Gastrointestinal hemorrhage, Biliary tract abnormality, Spleno...	ORPHA:79301
Heterotaxy, Visceral, 10, Autosomal, With Male Infertility	Situs inversus totalis, Male infertility, Dextrocardia	OMIM:619607
Wolman Disease	Steatorrhea, Hepatomegaly, Anemia, Bone-marrow foam cells, Esophageal varix, Ascites, Splenomegal...	ORPHA:75233
Cat Eye Syndrome	Rectal fistula, Tricuspid atresia, Anal stenosis, Rectal atresia, Biliary atresia, Meckel diverti...	OMIM:115470
Agammaglobulinemia 4, Autosomal Recessive	Abnormal T cell morphology, Protein-losing enteropathy, Neutropenia	OMIM:613502
Distal Deletion 12Q	Annular pancreas, High, narrow palate, Maturity-onset diabetes of the young, Ectopic kidney, Bili...	ORPHA:96149
Congenital Contractural Arachnodactyly	High palate, Tracheoesophageal fistula, Intestinal malrotation, Mitral valve prolapse, Duodenal a...	ORPHA:115
Pancreatitis, Hereditary	Pancreatic pseudocyst, Steatorrhea, Pancreatitis, Exocrine pancreatic insufficiency, Pancreatic c...	OMIM:167800
Fanconi Anemia, Complementation Group D2	Annular pancreas, Anemia, Ectopic kidney, Esophageal atresia, Pancytopenia, Pelvic kidney, Reticu...	OMIM:227646
Neutropenia, Severe Congenital, 5, Autosomal Recessive	Enlarged kidney, Hepatomegaly, Anemia, Thrombocytopenia, Splenomegaly, Leukopenia, Extramedullary...	OMIM:615285
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease	Anemia, Lymphadenopathy, Hemophagocytosis, Thrombocytopenia, Hepatosplenomegaly, Splenomegaly, Co...	OMIM:613101
Dyskeratosis Congenita, Autosomal Recessive 2	Cirrhosis, Pancytopenia, Bone marrow hypocellularity, Thrombocytopenia, Oral leukoplakia, Testicu...	OMIM:613987
Attenuated Familial Adenomatous Polyposis	Neoplasm of the stomach, Colorectal polyposis, Rectal polyposis, Adenocarcinoma of the colon, Lar...	ORPHA:220460
Stromme Syndrome	Accessory spleen, Intestinal malrotation, Hydronephrosis, Cleft palate, Bilateral renal hypoplasi...	OMIM:243605
Hemoglobin D Disease	Anemia, HbS hemoglobin, Reduced alpha/beta synthesis ratio, Sickled erythrocytes, Decreased mean ...	ORPHA:90039
Alg6-Cdg	Jaundice, Protein-losing enteropathy, Abnormality of the liver, Increased circulating androgen co...	ORPHA:79320
Cholestasis, Progressive Familial Intrahepatic, 1	Cirrhosis, Jaundice, Hepatomegaly, Cholelithiasis, Intrahepatic cholestasis with episodic jaundic...	OMIM:211600
Zollinger-Ellison Syndrome	Duodenal ulcer, Gastrointestinal hemorrhage, Intestinal obstruction, Pituitary growth hormone cel...	ORPHA:913
Epidermolysis Bullosa Simplex 5C, With Pyloric Atresia	Congenital pyloric atresia	OMIM:612138
Familial Peripheral Male-Limited Precocious Puberty	Male infertility, Oligozoospermia, Long penis	ORPHA:3000
Esophageal Atresia	Maternal diabetes, Anorectal anomaly, Gastroesophageal reflux, Abnormal gastrointestinal tract mo...	ORPHA:1199
Down Syndrome	Delayed puberty, Narrow palate, Aganglionic megacolon, Neutrophilia, Secundum atrial septal defec...	ORPHA:870
Ciliary Dyskinesia, Primary, 49, Without Situs Inversus	Short sperm flagella, Situs inversus totalis, Male infertility, Coiled sperm flagella	OMIM:620197
Nephronophthisis 19	Nephronophthisis, Hepatomegaly, Cholestasis, Hepatic fibrosis, Bile duct proliferation, Splenomeg...	OMIM:616217
Fg Syndrome 3	Pyloric stenosis, Cryptorchidism	OMIM:300406
Jacobsen Syndrome	Annular pancreas, Duodenal atresia, Ectopic anus, Ventricular septal defect, Aortic valve stenosi...	ORPHA:2308
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects	Muscular ventricular septal defect, Esophageal atresia, Unilateral renal agenesis, Tracheoesophag...	OMIM:619227
Harderoporphyria	Increased fecal harderoporphyrin, Increased urine harderoporphyrin level, Hepatomegaly, Red urine...	OMIM:618892
Diarrhea 7, Protein-Losing Enteropathy Type	Protein-losing enteropathy, Villous atrophy	OMIM:615863
Hemoglobin H Disease	HbH hemoglobin, Hepatomegaly, Reduced alpha/beta synthesis ratio, Splenomegaly, Hemolytic anemia	OMIM:613978
Cholestasis-Lymphedema Syndrome	Cirrhosis, Jaundice, Hepatomegaly, Gastrointestinal hemorrhage, Abnormality of the lymphatic syst...	ORPHA:1414
Miller-Dieker Lissencephaly Syndrome	Pelvic kidney, Abnormal heart morphology, Cleft palate, Cryptorchidism, Duodenal atresia	OMIM:247200
Diarrhea 5, With Tufting Enteropathy, Congenital	Crypt hyperplasia, Villous atrophy	OMIM:613217
Portal Hypertension, Noncirrhotic, 2	Hepatomegaly, Hepatocellular carcinoma, Esophageal varix, Ascites, Portal hypertension, Thrombocy...	OMIM:619463
Mpi-Cdg	Gastrointestinal hemorrhage, Hepatomegaly, Protein-losing enteropathy, Portal hypertension, Hypot...	ORPHA:79319
Hennekam Lymphangiectasia-Lymphedema Syndrome 1	Narrow palate, Pericardial lymphangiectasia, Intestinal lymphangiectasia, Rectal prolapse, Ectopi...	OMIM:235510
Pancreatic Colipase Deficiency	Steatorrhea, Cholelithiasis, Megaloblastic anemia, Exocrine pancreatic insufficiency, Fat malabso...	ORPHA:309108
Granulomatous Disease, Chronic, Autosomal Recessive, 5	Perianal abscess, Lymphadenopathy, Recurrent tonsillitis, Anal fissure, Crohn's disease, Acute pa...	OMIM:618935
Myotonic Dystrophy 1	Hypogonadism, Dysphagia, Testicular atrophy, Cholelithiasis	OMIM:160900
Kennedy Disease	Decreased fertility, Type II diabetes mellitus, Erectile dysfunction, Testicular atrophy	ORPHA:481
Mosaic Variegated Aneuploidy Syndrome	Intestinal polyposis, Stomach cancer, Ascites, Vaginal neoplasm, Hypothyroidism, Acute lymphoblas...	ORPHA:1052
Dyrk1A-Related Intellectual Disability Syndrome	Breast hypoplasia, Unilateral renal agenesis, Hypospadias, Gastroesophageal reflux, Pelvic kidney...	ORPHA:464306
Beta-Thalassemia	Hepatomegaly, Anemia, Cholelithiasis, Hypertrophic cardiomyopathy, Thrombocytopenia, Splenomegaly...	ORPHA:848
Chronic Diarrhea Due To Glucoamylase Deficiency	Decreased small intestinal mucosa lactase level, Abnormal small intestinal mucosa morphology	ORPHA:103907
Congenital Tracheal Stenosis	Duodenal atresia, Meckel diverticulum, Abnormal gastrointestinal tract morphology, Tracheoesophag...	ORPHA:141127
Meckel Syndrome	Situs inversus totalis, Ureteral duplication, Accessory spleen, Pancreatic cysts, Furrowed tongue...	ORPHA:564
Cholestasis, Progressive Familial Intrahepatic, 2	Cirrhosis, Intrahepatic cholestasis, Hepatomegaly, Hepatocellular carcinoma, Intermittent jaundic...	OMIM:601847
Systemic Sclerosis	Myocarditis, Acute kidney injury, Abnormal stomach morphology, Abnormality of the gastrointestina...	ORPHA:90291
Visceral Myopathy 1	Thinning of outer muscular layer of small bowel, Aganglionic megacolon, Pancreatitis, Intestinal ...	OMIM:155310
Campomelia, Cumming Type	Hepatomegaly, Multicystic kidney dysplasia, Abnormal intestine morphology, Cleft palate, Multiple...	ORPHA:1318
Spermatogenic Failure 77	Male infertility, Oligozoospermia, Multiflagellar spermatozoa, Azoospermia	OMIM:620103
Congenital Short Bowel Syndrome	Steatorrhea, Abnormal peristalsis, Congenital shortened small intestine, Intestinal malrotation, ...	OMIM:615237
Beta-Thalassemia Intermedia	Proximal tubulopathy, Anemia of inadequate production, Splenomegaly, Hypogonadism, Decreased mean...	ORPHA:231222
Cholesteryl Ester Storage Disease	Cirrhosis, Hepatomegaly, Anemia, Steatorrhea, Periportal fibrosis, Bone-marrow foam cells, Esopha...	OMIM:278000
Bone Marrow Failure Syndrome 5	Anemia, Erythroid hypoplasia, Pure red cell aplasia, Hypogonadism, Oral leukoplakia, Testicular a...	OMIM:618165
Beckwith-Wiedemann Syndrome	Enlarged kidney, Ureteral duplication, Large intestinal polyposis, Multiple renal cysts, Splenome...	ORPHA:116
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation	Unilateral renal agenesis, Hypospadias, Gastroesophageal reflux, Pelvic kidney, Ventricular septa...	ORPHA:464311
Spinocerebellar Ataxia 32	Infertility, Testicular atrophy, Azoospermia	OMIM:613909
Arthrogryposis, Perthes Disease, And Upward Gaze Palsy	Pulmonic stenosis, Atrial septal defect, Ventricular septal defect, Pyloric stenosis	OMIM:614262
Spinocerebellar Ataxia Type 32	Male infertility, Testicular atrophy, Azoospermia	ORPHA:276183
Sclerosing Cholangitis, Neonatal	Cirrhosis, Jaundice, Portal fibrosis, Hepatomegaly, Sclerosing cholangitis, Acholic stools, Vesic...	OMIM:617394
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells	Decreased helper T cell proportion, Hypersplenism, Splenomegaly, Pancytopenia	OMIM:183350
Autosomal Recessive Polycystic Kidney Disease	Enlarged kidney, Gastrointestinal hemorrhage, Cholestasis, Ascites, Biliary hyperplasia, Splenome...	ORPHA:731
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart	Annular pancreas, Hypospadias, Gastroesophageal reflux, Patent foramen ovale, Vesicoureteral refl...	OMIM:616975
Igg4-Related Submandibular Gland Disease	Enlarged lacrimal glands, Abnormal salivary gland morphology, Prostatitis, Cholangitis, Abnormal ...	ORPHA:449432
Ulnar-Mammary Syndrome	Delayed puberty, Breast aplasia, Hypoplasia of penis, Ectopic anus, Hypoplastic nipples, Ventricu...	ORPHA:3138
Mu-Heavy Chain Disease	Hepatomegaly, Bence Jones Proteinuria, Lymphadenopathy, Anemia, Splenomegaly, Abnormal B cell cou...	ORPHA:100024
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency	Delayed puberty, Hepatocellular adenoma, Cirrhosis, Portal fibrosis, Hepatomegaly, Anemia, Renal ...	ORPHA:264580
Pearson Syndrome	Steatorrhea, Cardiomyopathy, Reticulocytosis, Bone marrow hypocellularity, Abnormal heart morphol...	ORPHA:699
Marden-Walker Syndrome	High, narrow palate, Dextrocardia, Hypospadias, High palate, Pyloric stenosis, Renal hypoplasia, ...	OMIM:248700
Congenital Pulmonary Lymphangiectasia	Hepatomegaly, Gastroesophageal reflux, Chylopericardium, Ascites, Pulmonic stenosis, Splenomegaly	ORPHA:2414
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis	Steatorrhea, Jaundice, Hepatomegaly, Anemia of inadequate production, Exocrine pancreatic insuffi...	OMIM:612714
Atelosteogenesis Type I	Cleft palate, Abnormal pancreatic duct morphology, Multiple renal cysts, Malrotation of colon	ORPHA:1190
Juvenile Polyposis Of Infancy	Gastrointestinal hemorrhage, Rectal prolapse, Anemia, Protein-losing enteropathy, Melena, High, n...	ORPHA:79076
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly	Atrial septal defect, Polycystic kidney dysplasia, Ventricular septal defect, Intestinal malrotat...	OMIM:263520
Renal Cysts And Diabetes Syndrome	Biliary tract abnormality, Decreased numbers of nephrons, Atretic vas deferens, Epididymal cyst, ...	OMIM:137920
8P11.2 Deletion Syndrome	Hypoplasia of penis, Azoospermia, Spherocytosis, High palate, Abnormality of the hypothalamus-pit...	ORPHA:251066
Metachromatic Leukodystrophy	Abnormal stomach morphology, Urinary incontinence, Hemobilia, Abnormal duodenum morphology, Neopl...	ORPHA:512
Pearson Marrow-Pancreas Syndrome	Steatorrhea, Hepatomegaly, Refractory sideroblastic anemia, Anemia, Villous atrophy, Pancytopenia...	OMIM:557000
Cronkhite-Canada Syndrome	Hepatomegaly, Intestinal polyposis, Anemia, Stomach cancer, Furrowed tongue, Hamartomatous polypo...	ORPHA:2930
Zellweger Syndrome	Clitoral hypertrophy, Jaundice, Hepatomegaly, Hypospadias, Ventricular septal defect, High palate...	ORPHA:912
Bile Acid Synthesis Defect, Congenital, 1	Cirrhosis, Jaundice, Intrahepatic cholestasis, Giant cell hepatitis, Hepatomegaly, Steatorrhea, S...	OMIM:607765
Polycystic Kidney Disease 1 With Or Without Polycystic Liver Disease	Polycystic kidney dysplasia, Colonic diverticula, Mitral valve prolapse, Hepatic cysts, Renal ins...	OMIM:173900
Duodenal Atresia	Duodenal atresia	OMIM:223400
Autoinflammation With Infantile Enterocolitis	Anemia, Pancytopenia, Enterocolitis, Thrombocytopenia, Splenomegaly, Reduced natural killer cell ...	OMIM:616050
Congenital Bile Acid Synthesis Defect Type 3	Cirrhosis, Jaundice, Cholestasis, Bile duct proliferation, Hepatosplenomegaly, Fat malabsorption	ORPHA:79302
Syndromic Diarrhea	Abnormal heart morphology, Splenomegaly, Lymphopenia, Bicuspid aortic valve, Polycystic kidney dy...	ORPHA:84064
Budd-Chiari Syndrome	Intestinal obstruction, Cirrhosis, Jaundice, Hepatomegaly, Gastrointestinal hemorrhage, Gastroint...	ORPHA:131
Trichothiodystrophy 3, Photosensitive	Meckel diverticulum, Bilateral cryptorchidism, Pyloric stenosis, Abdominal adhesions, Lymphopenia...	OMIM:616395
Adams-Oliver Syndrome 5	Patent foramen ovale, Esophageal varix, Right atrial enlargement, Portal vein thrombosis, Pulmoni...	OMIM:616028
Congenital Disorder Of Glycosylation, Type Il	Hepatomegaly, Polycystic kidney dysplasia, Ascites, Pericardial effusion, Splenomegaly, Atrial se...	OMIM:608776
Oculogastrointestinal Muscular Dystrophy	Abnormality of the gastrointestinal tract, Intestinal pseudo-obstruction, Abnormal gastric mucosa...	ORPHA:1876
Diets-Jongmans Syndrome	Cryptorchidism, Ventricular septal defect, Hypospadias, Duodenal atresia	OMIM:618846
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism	Elevated circulating thyroid-stimulating hormone concentration, Hepatomegaly, Splenic cyst, Polyc...	OMIM:610199
Bohring-Opitz Syndrome	Narrow palate, Hyperechogenic pancreas, Gastroesophageal reflux, Bilateral cleft palate, Vesicour...	OMIM:605039
Lowry-Maclean Syndrome	High, narrow palate, Atrioventricular canal defect, Hypospadias, Midgut malrotation, Abnormality ...	ORPHA:2409
Eosinophilic Gastroenteritis	Steatorrhea, Protein-losing enteropathy, Anemia, Abnormality of the gastrointestinal tract, Leuko...	ORPHA:2070
Hypoplasminogenemia	Duodenal ulcer, Abnormal fallopian tube morphology, Nephrolithiasis, Cervicitis, Abnormality of t...	ORPHA:722
Refractory Celiac Disease	Normocytic anemia, Protein-losing enteropathy, Iron deficiency anemia, Macrocytic anemia, Jejunit...	ORPHA:398063
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14	Maturity-onset diabetes of the young, High palate, Precocious puberty, Pyloric stenosis, Cleft pa...	ORPHA:96184
Nephronophthisis 13	Nephronophthisis, Glomerular sclerosis, Intrahepatic bile duct dilatation, Renal hypoplasia, Glob...	OMIM:614377
Bile Acid Synthesis Defect, Congenital, 3	Cirrhosis, Jaundice, Intrahepatic cholestasis, Hepatomegaly, Steatorrhea, Acholic stools, Bile du...	OMIM:613812
Trisomy 8P	Annular pancreas, Abnormal left ventricle morphology, Dysplastic aortic valve, Nephrocalcinosis, ...	ORPHA:264450
Jacobsen Syndrome	Annular pancreas, Hypospadias, Labial hypoplasia, Ventricular septal defect, Clitoral hypoplasia,...	OMIM:147791
Pericardial And Diaphragmatic Defect	Meckel diverticulum, Abnormal gastrointestinal tract morphology, Intestinal malrotation, Mitral s...	ORPHA:2847
Amyloidosis, Familial Visceral	Hepatomegaly, Hematuria, Cholestasis, Nephrotic syndrome, Proteinuria, Splenomegaly, Nephropathy	OMIM:105200
Meckel Syndrome, Type 7	Situs inversus totalis, Atrial septal defect, Cholestasis, Biliary cirrhosis, Portal hypertension...	OMIM:267010
Congenital Disorder Of Glycosylation, Type Iil	Cirrhosis, Hepatomegaly, Unilateral renal agenesis, Pancytopenia, Proximal tubulopathy, Esophagea...	OMIM:614576
Meacham Syndrome	Hydrometrocolpos, Situs inversus totalis, Transposition of the great arteries, Abnormal fallopian...	ORPHA:3097
Macrocephaly/Autism Syndrome	Hepatomegaly, High palate, Splenomegaly, Lymphopenia, Penile freckling, Hydrocele testis	OMIM:605309
Pancreatic Agenesis 2	Steatorrhea, Pancreatic hypoplasia, Pancreatic aplasia, Exocrine pancreatic insufficiency, Diabet...	OMIM:615935
Diarrhea 10, Protein-Losing Enteropathy Type	Elevated circulating thyroid-stimulating hormone concentration, Polyuria, Protein-losing enteropa...	OMIM:618183
Diphallia	Penoscrotal transposition, Epispadias, Ureteral duplication, Bifid penis, Hypospadias, Ectopic sc...	ORPHA:227
Caroli Disease	Cirrhosis, Jaundice, Intrahepatic cholestasis, Cholangitis, Cholelithiasis, Hepatomegaly, Liver a...	ORPHA:53035
Campomelia, Cumming Type	Polycystic kidney dysplasia, Pancreatic cysts, Polysplenia, Polycystic liver disease	OMIM:211890
Griscelli Syndrome	Jaundice, Hepatomegaly, Lymphadenopathy, Ascites, Pyloric stenosis, Bone marrow hypocellularity, ...	ORPHA:381
Erythroleukemia, Familial, Susceptibility To	Hepatomegaly, Anemia, Acute myeloid leukemia, Thrombocytopenia, Splenomegaly, Erythroid hyperplas...	OMIM:133180
Anemia, Congenital Dyserythropoietic, Type Iv	Hepatomegaly, Anemia, Hypospadias, Reduced hematocrit, Anemia of inadequate production, Persisten...	OMIM:613673
Sickle Cell Disease	Hepatomegaly, Jaundice, Hematuria, Cholelithiasis, Leukocytosis, Splenic infarction, Target cells...	OMIM:603903
Ménétrier Disease	Gastrointestinal hemorrhage, Hypochromic microcytic anemia, Gastroesophageal reflux, Stomach canc...	ORPHA:2494
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation	Autoimmune hemolytic anemia, Hepatomegaly, Lymphadenopathy, Crohn's disease, Splenomegaly, Atroph...	OMIM:616100
Multiple Endocrine Neoplasia Type 1	Hematemesis, Duodenal ulcer, Adrenocortical abnormality, Neoplasm of the pancreas, Amenorrhea, Ph...	ORPHA:652
Shwachman-Diamond Syndrome 2	Normocytic anemia, Hepatomegaly, Hyperechogenic pancreas, Steatorrhea, High palate, Exocrine panc...	OMIM:617941
Coach Syndrome 1	Cirrhosis, Nephronophthisis, Hepatomegaly, Unilateral renal agenesis, Abnormal abdomen morphology...	OMIM:216360
Mosaic Variegated Aneuploidy Syndrome 2	Decreased response to growth hormone stimulation test, Hypothyroidism, Atrial septal defect, Vent...	OMIM:614114
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked	Villous atrophy, Anemia, Lymphadenopathy, Ileus, Decreased FOXP3-expressing T cell count, Hypothy...	OMIM:304790
Ring Chromosome Y Syndrome	Male infertility, Male hypogonadism, Hypospadias, Streak ovary, Azoospermia, Abnormal spermatogen...	ORPHA:261529
Igg4-Related Thyroid Disease	Euthyroid goiter, Sclerosing cholangitis, Sialadenitis, Thyroiditis, Abnormal pituitary gland mor...	ORPHA:64744
Trisomy 18P	Pyloric stenosis, High, narrow palate, Bilateral cryptorchidism	ORPHA:1715
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy	Jejunoileal ulceration, Small bowel diverticula, Fat malabsorption	OMIM:221400
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency	Autoimmune hemolytic anemia, Hepatomegaly, Lymphadenopathy, Neutropenia in presence of anti-neutr...	ORPHA:436159
Splenoportal Vascular Anomalies	Cirrhosis, Anomalous splenoportal venous system, Ascites, Splenomegaly, Hepatic fibrosis, Diabete...	OMIM:271500
Beta-Thalassemia, Dominant Inclusion Body Type	Hepatomegaly, Decreased mean corpuscular hemoglobin concentration, Persistence of hemoglobin F, E...	OMIM:603902
Anemia, Hypochromic Microcytic, With Iron Overload 2	Hepatomegaly, Anemia, Azoospermia, Hypochromia, Poikilocytosis, Sideroblastic anemia, Elevated he...	OMIM:615234
Congenital Tufting Enteropathy	Cholestatic liver disease, Abnormal large intestinal mucosa morphology, Steatorrhea, Elevated fec...	ORPHA:92050
Autoimmune Lymphoproliferative Syndrome, Type Iia	Autoimmune hemolytic anemia, Gastrointestinal hemorrhage, Hepatomegaly, Iron deficiency anemia, L...	OMIM:603909
American Trypanosomiasis	Myocarditis, Hepatomegaly, Aganglionic megacolon, Lymphadenopathy, Cardiomyopathy, Splenomegaly, ...	ORPHA:3386
Duodenal Ulcer Due To Antral G-Cell Hyperfunction	Duodenal ulcer, Hypergastrinemia	OMIM:126840
Townes-Brocks Syndrome 1	Anal stenosis, Hypospadias, Rectovaginal fistula, Renal insufficiency, Gastroesophageal reflux, V...	OMIM:107480
Chromosome 19Q13.11 Deletion Syndrome, Proximal	Pyloric stenosis, Vesicoureteral reflux, Hydroureter, Nephrolithiasis	OMIM:617219
Kaposiform Lymphangiomatosis	Enlarged kidney, Anemia, Abnormality of the lymphatic system, Abnormal spleen morphology, Abnorma...	ORPHA:464329
Anemia, Congenital Dyserythropoietic, Type Ii	Jaundice, Cholelithiasis, Anemia of inadequate production, Reticulocytosis, Splenomegaly	OMIM:224100
Charge Syndrome	Delayed puberty, Tracheoesophageal fistula, Pulmonic stenosis, Dysphagia, Dysplastic tricuspid va...	OMIM:214800
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1	Delayed puberty, Steatorrhea, Hepatomegaly, Hypothyroidism, Diabetes mellitus, Exocrine pancreati...	OMIM:616263
Immunodeficiency 42	Splenomegaly, Hepatomegaly, Hypoplasia of the thymus	OMIM:616622
Proprotein Convertase 1/3 Deficiency	Hypoinsulinemia, Elevated circulating proinsulin concentration, Decreased circulating cortisol le...	OMIM:600955
Autosomal Dominant Centronuclear Myopathy	Pyloric stenosis, Urinary incontinence, Cryptorchidism	ORPHA:169189
Immunodeficiency 31C	Autoimmune hemolytic anemia, Delayed puberty, Hepatomegaly, Impaired lymphocyte transformation wi...	OMIM:614162
Isolated Biliary Atresia	Cirrhosis, Jaundice, Hepatomegaly, Periportal fibrosis, Cholestasis, Bile duct proliferation, Atr...	ORPHA:30391
Lesch-Nyhan Syndrome	Megaloblastic anemia, Nephrolithiasis, Nephrocalcinosis, Dysphagia, Hyperuricosuria, Testicular a...	OMIM:300322
Transaldolase Deficiency	Atrial septal defect, Cirrhosis, Hepatomegaly, Anemia, Clitoral hypertrophy, Pancytopenia, Patent...	OMIM:606003
Neutropenia, Severe Congenital, 4, Autosomal Recessive	Perianal abscess, Hepatomegaly, Anemia, Erythroid hypoplasia, Cleft palate, High palate, Hypoplas...	OMIM:612541
1P36 Deletion Syndrome	Abnormal female external genitalia morphology, Hypoplasia of penis, Abnormal intestine morphology...	ORPHA:1606
Autoimmune Hepatitis	Cirrhosis, Jaundice, Gastrointestinal hemorrhage, Sclerosing cholangitis, Acute hepatitis, Thyroi...	ORPHA:2137
Pparg-Related Familial Partial Lipodystrophy	Cirrhosis, Hepatomegaly, Pancreatitis, Maternal diabetes, Secondary amenorrhea, Hypertrophic card...	ORPHA:79083
Fg Syndrome Type 1	Hypospadias, Small pituitary gland, Gastroesophageal reflux, High palate, Anal atresia, Abnormal ...	ORPHA:93932
Koolen-De Vries Syndrome	Narrow palate, High, narrow palate, Ureteral duplication, Hypospadias, Vesicoureteral reflux, Pyl...	ORPHA:96169
Ciliary Dyskinesia, Primary, 9	Situs inversus totalis, Male infertility	OMIM:612444
Periventricular Nodular Heterotopia	Pyloric stenosis, Abnormal heart valve morphology, Gastroesophageal reflux	ORPHA:98892
Immunodeficiency 97 With Autoinflammation	Autoimmune hemolytic anemia, Mediastinal lymphadenopathy, Hemophagocytosis, Decreased proportion ...	OMIM:619802
Colonic Atresia	Peptic ulcer, Duodenal stenosis, Colonic atresia, Abnormal mesentery morphology, Abdominal situs ...	ORPHA:1198
Spondyloocular Syndrome	Duodenal ulcer, Dysplastic aortic valve, Unilateral cryptorchidism, Mitral valve prolapse, Atrial...	OMIM:605822
Primary Intestinal Lymphangiectasia	Peritoneal effusion, Intestinal lymphangiectasia, Anemia, Decreased proportion of CD3-positive T ...	ORPHA:90362
Spermatogenic Failure 14	Male infertility, Round spermatid arrest, Azoospermia	OMIM:615842
Dominant Beta-Thalassemia	Delayed puberty, Splenomegaly, Decreased mean corpuscular volume, Adrenal insufficiency, Jaundice...	ORPHA:231226
Bile Acid Synthesis Defect, Congenital, 2	Steatorrhea, Jaundice, Intrahepatic cholestasis, Hepatomegaly, Splenomegaly	OMIM:235555
Gardner Syndrome	Neoplasm of the pancreas, Gastrointestinal carcinoma, Adrenocortical adenoma, Adenomatous colonic...	ORPHA:79665
Ciliary Dyskinesia, Primary, 18	Situs inversus totalis, Male infertility, Immotile sperm	OMIM:614874
Immunodeficiency 60 And Autoimmunity	Decreased basophil count, Pancytopenia, Crohn's disease, Splenomegaly, Decreased proportion of me...	OMIM:618394
Immunodeficiency, Common Variable, 8, With Autoimmunity	Autoimmune hemolytic anemia, Villous atrophy, Lymphadenopathy, Pancytopenia, Decreased proportion...	OMIM:614700
Cryoglobulinemic Vasculitis	Gastrointestinal infarctions, Gastrointestinal hemorrhage, Hepatomegaly, Hematuria, Mediastinal l...	ORPHA:91138
Musculocontractural Ehlers-Danlos Syndrome	Abnormal heart valve morphology, High palate, Nephrolithiasis, Functional abnormality of the blad...	ORPHA:2953
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome	Hypoplasia of right ventricle, Ureteral duplication, Transposition of the great arteries, Anterio...	ORPHA:2255
Familial Mediterranean Fever	Intestinal obstruction, Gastrointestinal infarctions, Pancreatitis, Lymphadenopathy, Leukocytosis...	ORPHA:342
Histiocytosis-Lymphadenopathy Plus Syndrome	Decreased response to growth hormone stimulation test, Hepatomegaly, Lymphadenopathy, Azoospermia...	OMIM:602782
Alpha-Thalassemia	Anisopoikilocytosis, Hemoglobin Barts, Jaundice, Anemia, Cholelithiasis, Reticulocytosis, Pericar...	ORPHA:846
Myopathy, Centronuclear, X-Linked	Pyloric stenosis, Cryptorchidism, High palate	OMIM:310400
Kleefstra Syndrome	Supernumerary nipple, Hypospadias, Gastroesophageal reflux, Hypoplasia of penis, Vesicoureteral r...	ORPHA:261494
Autosomal Dominant Polycystic Kidney Disease	Enlarged kidney, Hematuria, Decreased glomerular filtration rate, Calcium oxalate nephrolithiasis...	ORPHA:730
Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease	Delayed puberty, Abnormal liver parenchyma morphology, Hyperechogenic pancreas, Aplasia/Hypoplasi...	ORPHA:456312
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency	Hepatomegaly, Anemia, Lymphadenopathy, Vesicoureteral reflux, Cholestasis, Leukocytosis, Lymphade...	OMIM:615895
Thrombocytopenia, Paris-Trousseau Type	Pyloric stenosis, Thrombocytopenia	OMIM:188025
Whim Syndrome	Parotitis, Lymphadenitis, Abnormal neutrophil morphology, Cervix cancer, Tetralogy of Fallot, Lym...	ORPHA:51636
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections	Duodenal ulcer, Rectal prolapse, Esophageal food impaction, Gastroesophageal reflux, Intestinal p...	OMIM:147060
Bone Marrow Failure Syndrome 3	Aplastic anemia, Hyperechogenic pancreas, Anemia, Acute myeloid leukemia, Pancytopenia, Increased...	OMIM:617052
Spermatogenic Failure 28	Male infertility, Non-obstructive azoospermia	OMIM:618086
Tarp Syndrome	Glossoptosis, Tongue nodules, Cryptorchidism, Hydronephrosis, Tetralogy of Fallot, Abnormal duode...	ORPHA:2886
Chops Syndrome	High, narrow palate, Gastroesophageal reflux, Patent foramen ovale, Vesicoureteral reflux, Ventri...	OMIM:616368
Vascular Hyalinosis	Protein-losing enteropathy, Hematochezia	OMIM:277175
Beta-Thalassemia Major	Delayed puberty, Anemia of inadequate production, Splenomegaly, Decreased mean corpuscular volume...	ORPHA:231214
Aarskog-Scott Syndrome	Delayed puberty, Bilateral cryptorchidism, Cleft palate, Elevated circulating follicle stimulatin...	OMIM:305400
Generalized Juvenile Polyposis/Juvenile Polyposis Coli	Anemia, Rectal polyposis, Small intestinal polyposis, Hematochezia, Adenomatous colonic polyposis...	ORPHA:329971
Mixed Connective Tissue Disease	Myocarditis, Gastrointestinal hemorrhage, Hepatomegaly, Mediastinal lymphadenopathy, Lymphadenopa...	ORPHA:809
Tremor-Nystagmus-Duodenal Ulcer Syndrome	Duodenal ulcer	ORPHA:3350
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency	Unilateral renal agenesis, Hypospadias, Pelvic kidney, Microphallus, Cryptorchidism, Duodenal atr...	ORPHA:468631
Meier-Gorlin Syndrome 7	Meconium peritonitis, Clitoral hypertrophy, Anal stenosis, Hypospadias, Breast aplasia, Vesicoure...	OMIM:617063
Reynolds Syndrome	Cirrhosis, Jaundice, Hepatomegaly, Gastroesophageal reflux, Ascites, Abnormal gastric mucosa morp...	ORPHA:779
Heart Defects, Congenital, And Other Congenital Anomalies	Perimembranous ventricular septal defect, Ureteral duplication, Transposition of the great arteri...	OMIM:600001
Anemia, Sideroblastic, 3, Pyridoxine-Refractory	Cirrhosis, Jaundice, Anemia, Hepatomegaly, Hypochromia, Elevated hepatic iron concentration, Anis...	OMIM:616860
17Q12 Microdeletion Syndrome	Renal insufficiency, Pancreatic aplasia, Ureterocele, Diabetes mellitus, Shawl scrotum, Cryptorch...	ORPHA:261265
Nephrotic Syndrome, Type 1	Glomerular sclerosis, Gastroesophageal reflux, Congenital nephrotic syndrome, Pyloric stenosis, H...	OMIM:256300
Tyrosinemia, Type I	Elevated urinary delta-aminolevulinic acid, Enlarged kidney, Cirrhosis, Hepatomegaly, Anemia, Glo...	OMIM:276700
Chromosome 13Q33-Q34 Deletion Syndrome	Penoscrotal transposition, Hypospadias, Bifid scrotum, High palate, Anal atresia, Pulmonic stenos...	OMIM:619148
Trichohepatoenteric Syndrome 1	Cirrhosis, Jaundice, Hepatomegaly, Hypospadias, Galactosuria, Cholestasis, Ventricular septal def...	OMIM:222470
Cholestasis, Progressive Familial Intrahepatic, 3	Cirrhosis, Jaundice, Intrahepatic cholestasis, Portal fibrosis, Hepatomegaly, Portal inflammation...	OMIM:602347
Ciliary Dyskinesia, Primary, 14	Situs inversus totalis, Male infertility, Immotile sperm, Reduced sperm motility	OMIM:613807
Postaxial Acrofacial Dysostosis	Supernumerary nipple, Midgut malrotation, Pyloric stenosis, Cleft palate, Cryptorchidism, Micropenis	OMIM:263750
Focal Dermal Hypoplasia	Gastroesophageal reflux, Duodenal atresia, Hydronephrosis, Ventricular septal defect, Multicystic...	ORPHA:2092
Parenteral Nutrition-Associated Cholestasis	Cirrhosis, Jaundice, Hepatomegaly, Cholelithiasis, Portal hypertension, Biliary hyperplasia, Sple...	ORPHA:567983
Ciliary Dyskinesia, Primary, 45	Male infertility	OMIM:618801
Permanent Neonatal Diabetes Mellitus-Pancreatic And Cerebellar Agenesis Syndrome	Aplasia/Hypoplasia of the pancreas, Neonatal insulin-dependent diabetes mellitus	ORPHA:65288
Polycythemia Vera	Gastrointestinal hemorrhage, Increased red blood cell mass, Leukocytosis, Increased circulating h...	OMIM:263300
Von Hippel-Lindau Syndrome	Hepatic hemangioma, Neoplasm of the pancreas, Pheochromocytoma, Polycythemia, Papillary cystadeno...	OMIM:193300
Apc-Related Attenuated Familial Adenomatous Polyposis	Neoplasm of the pancreas, Gastrointestinal carcinoma, Duodenal polyposis, Adrenocortical adenoma,...	ORPHA:247806
Plasminogen Deficiency, Type I	Duodenal ulcer, Nephritis, Nephrolithiasis	OMIM:217090
Fanconi Anemia	Meckel diverticulum, Tracheoesophageal fistula, Leukopenia, Hypogonadism, Abnormal cardiac septum...	ORPHA:84
Duodenal Ulcer, Hyperpepsinogenemic I	Duodenal ulcer	OMIM:126850
Familial Adenomatous Polyposis	Pituitary adenoma, Neoplasm of the gastrointestinal tract, Desmoid tumors, Duodenal adenocarcinom...	ORPHA:733
Chronic Granulomatous Disease	Liver abscess, Mediastinal lymphadenopathy, Hepatomegaly, Tracheoesophageal fistula, Pyloric sten...	ORPHA:379
Cornelia De Lange Syndrome 1	Ectopic kidney, Malrotation of colon, Hypospadias, Cryptorchidism, Cleft palate, Reduced renal co...	OMIM:122470
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome	Hypochromic microcytic anemia, HbS hemoglobin, Splenic infarction, Persistence of hemoglobin F, R...	ORPHA:251380
Immunodeficiency 82 With Systemic Inflammation	Duodenal ulcer, Villous atrophy, Anemia, Lymphadenopathy, Anoperineal fistula, Gastritis, B lymph...	OMIM:619381
Dyskeratosis Congenita	Cirrhosis, Neoplasm of the pancreas, Hepatomegaly, Anemia, Anorectal anomaly, Esophageal stenosis...	ORPHA:1775
Liver Disease, Severe Congenital	Left atrial enlargement, Lymphocytosis, Ascites, Biliary hyperplasia, Leukopenia, Splenomegaly, C...	OMIM:619991
Proximal 16P11.2 Microdeletion Syndrome	Abnormal aortic valve morphology, Dextrocardia, Gastroesophageal reflux, Pyloric stenosis, Abnorm...	ORPHA:261197
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes	Protein-losing enteropathy, Anemia, Glossitis, Hamartomatous polyposis, Hematochezia, Gastrointes...	OMIM:175500
Tremor, Nystagmus, And Duodenal Ulcer	Duodenal ulcer	OMIM:190310
Short-Rib Thoracic Dysplasia 12	Hepatomegaly, Periportal fibrosis, Patent foramen ovale, Hypoplastic nipples, Ascites, Median cle...	OMIM:269860
Congenital Bilateral Absence Of Vas Deferens	Obstructive azoospermia, Male infertility, Oligozoospermia	ORPHA:48
Familial Mediterranean Fever	Hepatomegaly, Crohn's disease, Leukocytosis, Nephrotic syndrome, Pericarditis, Neutrophilia, Sple...	OMIM:249100
Mosaic Trisomy 16	Abnormality of the gastrointestinal tract, Maternal diabetes, Hypospadias, Meckel diverticulum, A...	ORPHA:1708
Gastrointestinal Ulceration, Recurrent, With Dysfunctional Platelets	Duodenal ulcer, Esophageal ulceration, Iron deficiency anemia, Gastric ulcer	OMIM:618372
Pyloric Stenosis, Infantile Hypertrophic, 1	Pyloric stenosis	OMIM:179010
Microvillus Inclusion Disease	Abnormal small intestinal villus morphology, Nephrocalcinosis, Abnormal renal physiology, Villous...	ORPHA:2290
Epidermolysis Bullosa, Junctional 5B, With Pyloric Atresia	Urethrovesical occlusion, Esophageal atresia, Congenital pyloric atresia	OMIM:226730
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency	Hepatocellular adenoma, Cirrhosis, Hepatomegaly, Anemia, Irregular menstruation, Renal tubular ac...	ORPHA:79240
Primary Ciliary Dyskinesia	Situs inversus totalis, Male infertility, Transposition of the great arteries, Abnormal atrial ar...	ORPHA:244
Cutis Laxa, Autosomal Recessive, Type Ic	Rectal prolapse, Multiple bladder diverticula, Gastroesophageal reflux, Accessory spleen, Patent ...	OMIM:613177
Fraser Syndrome 1	Clitoral hypertrophy, Hypospadias, Abnormality of the anus, Bicornuate uterus, Renal hypoplasia, ...	OMIM:219000
Spermatogenic Failure 13	Male infertility, Azoospermia	OMIM:615841
Lymphatic Malformation 6	Intestinal lymphangiectasia, Gastroesophageal reflux, Ascites, Hypothyroidism, Splenomegaly, Atri...	OMIM:616843
Tropical Pancreatitis	Jaundice, Abnormal pancreatic duct morphology, Maternal diabetes, Pancreatic calcification, Pancr...	ORPHA:103918
Congenital Enterocyte Heparan Sulfate Deficiency	Protein-losing enteropathy, Hematochezia	ORPHA:103910
Scedosporiosis	Pericarditis, Abnormal jejunum morphology, Diabetes mellitus, Endocarditis	ORPHA:449280
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency	Normocytic anemia, Jaundice, Normochromic anemia, Cholelithiasis, Nonspherocytic hemolytic anemia...	OMIM:235700
Spermatogenic Failure, X-Linked, 4	Male infertility, Azoospermia	OMIM:301077
Alveolar Echinococcosis	Abnormal adrenal morphology, Jaundice, Anemia, Cholangitis, Liver abscess, Abnormal spleen morpho...	ORPHA:284
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome	Delayed puberty, Abnormality of the endocrine system, Primary hypothyroidism, Abnormal intestine ...	ORPHA:391487
Ciliary Dyskinesia, Primary, 34	Male infertility, Immotile sperm	OMIM:617091
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome	Patent foramen ovale, High palate, Submucous cleft hard palate, Pyloric stenosis, Abnormal heart ...	ORPHA:457279
Primary Sclerosing Cholangitis	Adenocarcinoma of the large intestine, Cholestasis, Ascites, Splenomegaly, Type I diabetes mellit...	ORPHA:171
Gaucher Disease Type 1	Delayed puberty, Cirrhosis, Hepatomegaly, Hematuria, Anemia, Cholelithiasis, Pancytopenia, Biliar...	ORPHA:77259
Chylomicron Retention Disease	Steatorrhea, Accumulation of lipid droplets in small-bowel enterocytes	OMIM:246700
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation	Genital ulcers, Hepatomegaly, Aplasia of the thymus, B lymphocytopenia, Eosinophilia, Lymph node ...	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	Autoimmune hemolytic anemia, Hepatomegaly, Minimal change glomerulonephritis, Leukocytosis, Neutr...	OMIM:620565
Senior-Loken Syndrome 8	Nephronophthisis, Intrahepatic bile duct dilatation, Global glomerulosclerosis, Hepatic cysts, St...	OMIM:616307
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema	Jaundice, Hepatomegaly, Cholelithiasis, Increased mean corpuscular hemoglobin concentration, Incr...	OMIM:194380
Zygomycosis	Hematemesis, Gastrointestinal hemorrhage, Pericarditis, Hematochezia, Neutropenia, Myocarditis, S...	ORPHA:73263
Holoprosencephaly 13, X-Linked	Gastroesophageal reflux, Duodenal atresia, Patent foramen ovale, Median cleft palate, Cleft palat...	OMIM:301043
Gamma-Heavy Chain Disease	Autoimmune hemolytic anemia, Hepatomegaly, Anemia, Lymphadenopathy, Neoplasm of the tongue, Abnor...	ORPHA:100026
Aceruloplasminemia	Hypochromic microcytic anemia, Abnormal pancreas morphology, Refractory anemia, Elevated hepatic ...	ORPHA:48818
Opitz-Kaveggia Syndrome	Narrow palate, Anal stenosis, Hypospadias, Anal atresia, Intestinal malrotation, Pyloric stenosis...	OMIM:305450
Juvenile Polyposis Syndrome	Gastrointestinal hemorrhage, Neoplasm of the pancreas, Anemia, Hepatic arteriovenous malformation...	ORPHA:2929
Myoectodermal Gonadal Dysgenesis Syndrome	Gonadal dysgenesis, Unilateral renal agenesis, Accessory spleen, Anal atresia, Clitoral hypoplasi...	OMIM:618419
Spondyloepimetaphyseal Dysplasia, Krakow Type	Atrial septal defect, Annular pancreas, High palate, Decreased serum insulin-like growth factor 1	OMIM:618162
Koolen-De Vries Syndrome	Narrow palate, Vesicoureteral reflux, Ventricular septal defect, High palate, Pulmonic stenosis, ...	OMIM:610443
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency	Jaundice, Cholelithiasis, Spontaneous hemolytic crises, Nonspherocytic hemolytic anemia, Impaired...	OMIM:613470
Pyruvate Kinase Deficiency Of Red Cells	Chronic hemolytic anemia, Jaundice, Reduced red cell pyruvate kinase level, Cholelithiasis, Hepat...	OMIM:266200
Epidermolysis Bullosa, Junctional 6, With Pyloric Atresia	Esophageal stenosis, Congenital pyloric atresia	OMIM:619817
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly	Jaundice, Pancreatic cysts, Renal cyst, Polycystic liver disease, Bile duct proliferation, Nephri...	OMIM:208500
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Abnormality of the endocrine system, Abnormal intestine morphology, Splenomegaly, Type I diabetes...	ORPHA:37042
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome	Intestinal obstruction, Lymphadenopathy, Leukocytosis, Pericarditis, Orchitis, Splenomegaly, Peri...	ORPHA:32960
Ciliary Dyskinesia, Primary, 19	Situs inversus totalis, Male infertility	OMIM:614935
Coffin-Siris Syndrome 1	Duodenal ulcer, Clitoral hypertrophy, Hydroureter, Ectopic kidney, Hypospadias, Aplasia of the ut...	OMIM:135900
Vas Deferens, Congenital Bilateral Aplasia Of, X-Linked	Male infertility, Azoospermia	OMIM:300985
Vas Deferens, Congenital Bilateral Aplasia Of	Male infertility, Azoospermia	OMIM:277180
Shiga Toxin-Associated Hemolytic Uremic Syndrome	Acute kidney injury, Rectal prolapse, Pancreatitis, Acute colitis, Anuria, Intestinal perforation...	ORPHA:90038
Immunodeficiency, Common Variable, 10	Decreased response to growth hormone stimulation test, Pyloric stenosis, Abnormal response to ACT...	OMIM:615577
Autoinflammatory Disease, Systemic, With Vasculitis	Jaundice, Hepatomegaly, Anemia, Congenital hydrocele, Parotitis, Increased B cell count, Cholesta...	OMIM:620376
Smith-Lemli-Opitz Syndrome	Cholestatic liver disease, Bifid scrotum, Intestinal malrotation, Bifid uvula, Splenomegaly, Smal...	OMIM:270400
Cholestasis, Progressive Familial Intrahepatic, 9	Jaundice, Intrahepatic cholestasis, Hepatomegaly, Fibro-obliterative bile-duct lesion, Portal hyp...	OMIM:619849
Lipodystrophy, Congenital Generalized, Type 2	Decreased fertility, Cirrhosis, Hepatomegaly, Clitoral hypertrophy, Ventricular septal hypertroph...	OMIM:269700
Deafness-Small Bowel Diverticulosis-Neuropathy Syndrome	Duodenal ulcer, Steatorrhea	ORPHA:3217
Schinzel-Giedion Syndrome	Annular pancreas, Aganglionic megacolon, Hypospadias, Anteriorly placed anus, Macroglossia, High ...	ORPHA:798
Inflammatory Skin And Bowel Disease, Neonatal, 1	Duodenitis, Villous atrophy	OMIM:614328
Meckel Syndrome, Type 1	Ambiguous genitalia, male, External genital hypoplasia, Accessory spleen, Polycystic kidney dyspl...	OMIM:249000
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1	Premature ovarian insufficiency, Secondary amenorrhea, Hypergonadotropic hypogonadism, Dysphagia,...	OMIM:157640
Tarp Syndrome	Meckel diverticulum, Glossoptosis, High palate, Hydronephrosis, Tetralogy of Fallot, Cleft palate...	OMIM:311900
Rothmund-Thomson Syndrome, Type 2	Annular pancreas, High palate, Hypogonadism, Cryptorchidism, Anteriorly placed anus	OMIM:268400
Hereditary Spherocytosis	Jaundice, Hepatomegaly, Anemia, Cholelithiasis, Spontaneous hemolytic crises, Increased mean corp...	ORPHA:822
Okamoto Syndrome	Urinary incontinence, Anal stenosis, Abnormal left ventricle morphology, Gastroesophageal reflux,...	ORPHA:2729
Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease	Aganglionic megacolon, Hepatomegaly, Microcolon, Splenomegaly, Hypogonadism, Ileus	ORPHA:163746
Degcags Syndrome	Cholestasis, Abnormal spleen morphology, Pulmonic stenosis, Leukopenia, Congenital hypoplastic an...	OMIM:619488
Bohring-Opitz Syndrome	Annular pancreas, Cholelithiasis, Cleft palate, Cardiomegaly, Urinary retention, Abnormal cardiac...	ORPHA:97297
Primary Biliary Cholangitis	Gastrointestinal inflammation, Cirrhosis, Jaundice, Hepatomegaly, Steatorrhea, Hepatocellular car...	ORPHA:186
Lipodystrophy, Congenital Generalized, Type 1	Cirrhosis, Hepatomegaly, Clitoral hypertrophy, Decreased fertility in females, Hyperinsulinemia, ...	OMIM:608594
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2	Cholestatic liver disease, Cirrhosis, Hepatomegaly, Anemia, Lymphadenopathy, Accessory spleen, Mi...	OMIM:619418
Myasthenic Syndrome, Congenital, 7B, Presynaptic, Autosomal Recessive	Pyloric stenosis, Mitral stenosis, Subvalvular aortic stenosis, Dysphagia	OMIM:619461
Ehlers-Danlos Syndrome, Musculocontractural Type, 1	Tricuspid valve prolapse, High palate, Nephrotic syndrome, Intestinal malrotation, Hydronephrosis...	OMIM:601776
Marden-Walker Syndrome	Epispadias, Situs inversus totalis, Abnormal anatomic location of the heart, Hydroureter, Hypospa...	ORPHA:2461
Autoimmune Lymphoproliferative Syndrome	Lymphocytosis, Neoplasm of the tongue, Reticulocytosis, Bone marrow hypocellularity, Splenomegaly...	ORPHA:3261
Spherocytosis, Type 1	Jaundice, Cholelithiasis, Spherocytosis, Reticulocytosis, Splenomegaly, Hemolytic anemia	OMIM:182900
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland	Hypercalciuria, Male infertility	ORPHA:2239
Tafro Syndrome	Hepatomegaly, Anemia, Lymphadenopathy, Leukocytosis, Ascites, Thrombocytopenia, Splenomegaly, Hep...	ORPHA:457077
Cog8-Cdg	Protein-losing enteropathy	ORPHA:95428
Apert Syndrome	Narrow palate, Esophageal atresia, Ectopic anus, Cryptorchidism, Pyloric stenosis, Hydronephrosis...	OMIM:101200
22Q11.2 Deletion Syndrome	Gastrointestinal hemorrhage, Anorectal anomaly, Intestinal malrotation, Multiple renal cysts, Spl...	ORPHA:567
Junctional Epidermolysis Bullosa With Pyloric Atresia	Hematuria, Congenital pyloric atresia, Ureterocele, Hydronephrosis, Urethral stricture, Intestina...	ORPHA:79403
Brucellosis	Myocarditis, Liver abscess, Anemia, Hepatomegaly, Lymphadenopathy, Abnormal aortic valve morpholo...	ORPHA:1304
Frontometaphyseal Dysplasia 2	Delayed puberty, Gastroesophageal reflux, Neurogenic bladder, Patent foramen ovale, High palate, ...	OMIM:617137
Thrombocytopenia-Absent Radius Syndrome	Ureteral duplication, Anemia, Atrioventricular canal defect, Meckel diverticulum, Vesicoureteral ...	OMIM:274000
Dehydrated Hereditary Stomatocytosis	Macrocytic anemia, Cholelithiasis, Increased mean corpuscular hemoglobin concentration, Increased...	ORPHA:3202
Von Hippel-Lindau Disease	Myocarditis, Elevated urinary catecholamine level, Neoplasm of the pancreas, Pancreatic endocrine...	ORPHA:892
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome	Perimembranous ventricular septal defect, Hepatomegaly, Cholelithiasis, B lymphocytopenia, Pancre...	ORPHA:83617
Dehydrated Hereditary Stomatocytosis 2	Anisopoikilocytosis, Jaundice, Hepatomegaly, Increased mean corpuscular hemoglobin concentration,...	OMIM:616689
Knobloch Syndrome	Dextrocardia, Vesicoureteral reflux, Pyloric stenosis, Lymphangioma, Bifid ureter	ORPHA:1571
Hyperlipoproteinemia, Type Id	Hepatomegaly, Pancreatitis, Splenomegaly, Recurrent pancreatitis, Colitis	OMIM:615947
Simpson-Golabi-Behmel Syndrome	High, narrow palate, Ureteral duplication, Hydroureter, Hypospadias, Hepatomegaly, Hypoplasia of ...	ORPHA:373
Genitopatellar Syndrome	Clitoral hypertrophy, Enlarged labia minora, Anal stenosis, Multicystic kidney dysplasia, Labial ...	OMIM:606170
Cutis Laxa, Autosomal Recessive, Type Iiib	Pyloric stenosis, Cryptorchidism	OMIM:614438
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome	Jaundice, Hepatomegaly, Esophageal varix, Portal hypertension, Hypertrophic cardiomyopathy, Coppe...	ORPHA:309854
Johanson-Blizzard Syndrome	Clitoral hypertrophy, Primary hypothyroidism, Ascites, Urethrovaginal fistula, Splenomegaly, Sept...	OMIM:243800
Hennekam Syndrome	Ectopic kidney, Lymphadenopathy, Ascites, Pyloric stenosis, Pericardial effusion, Lymphangioma, S...	ORPHA:2136
Granulomatous Disease, Chronic, Autosomal Recessive, 1	Liver abscess, Hepatomegaly, Lymphadenopathy, Rectal abscess, Lymphadenitis, Splenomegaly, Impair...	OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2	Liver abscess, Hepatomegaly, Lymphadenopathy, Rectal abscess, Lymphadenitis, Splenomegaly, Impair...	OMIM:233710
Nephronophthisis-Like Nephropathy 1	Nephronophthisis, Chronic pancreatitis, Stage 5 chronic kidney disease, Pancreatic cysts, Renal c...	OMIM:613159
Glycogen Storage Disease Xii	Delayed puberty, Normocytic anemia, Jaundice, Hepatomegaly, Decreased erythrocyte fructose-1,6-bi...	OMIM:611881
Orofaciodigital Syndrome I	Polycystic kidney dysplasia, High palate, Ankyloglossia, Abnormal heart morphology, Ovarian cyst,...	OMIM:311200
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion	Decreased response to growth hormone stimulation test, Unilateral renal agenesis, Hypospadias, Br...	ORPHA:268261
Granulomatous Disease, Chronic, Autosomal Recessive, 4	Liver abscess, Hepatomegaly, Lymphadenopathy, Rectal abscess, Lymphadenitis, Splenomegaly, Impair...	OMIM:233690
X-Linked Intellectual Disability, Snyder Type	Ectopic kidney, Hypospadias, High palate, Abnormality of the Leydig cells, Cleft palate, Cryptorc...	ORPHA:3063
Familial Adenomatous Polyposis 1	Duodenal polyposis, Adrenocortical adenoma, Adenomatous colonic polyposis, Papillary thyroid carc...	OMIM:175100
Gaucher Disease Type 3	Delayed puberty, Hepatomegaly, Hematuria, Anemia, Pancytopenia, Abnormal heart valve morphology, ...	ORPHA:77261
Omenn Syndrome	Hepatomegaly, Anemia, Lymphadenopathy, B lymphocytopenia, Hypoplasia of the thymus, Severe B lymp...	OMIM:603554
Wilson Disease	Portal fibrosis, Ascites, Splenomegaly, Dysphagia, Hepatic steatosis, Jaundice, Hepatocellular ca...	OMIM:277900
Autosomal Recessive Cutis Laxa Type 1	Multiple bladder diverticula, Vesicoureteral reflux, Urethral diverticulum, Pyloric stenosis, Dil...	ORPHA:90349
Spherocytosis, Type 5	Jaundice, Abnormal platelet count, Spherocytosis, Reticulocytosis, Splenomegaly, Hemolytic anemia...	OMIM:612690
Williams Syndrome	Hypoplasia of penis, Tracheoesophageal fistula, Pulmonic stenosis, Nephrocalcinosis, Multiple ren...	ORPHA:904
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome	Delayed puberty, Anemia, Cholelithiasis, Pancytopenia, Azoospermia, Bacterial endocarditis, Aorti...	ORPHA:2072
Digeorge Syndrome	Bifid uvula, Ovarian cyst, Splenomegaly, Abnormal thymus morphology, Hepatic steatosis, Truncus a...	OMIM:188400
Steinert Myotonic Dystrophy	Decreased fertility, Decreased response to growth hormone stimulation test, Hyperinsulinemia, Abn...	ORPHA:273
Simpson-Golabi-Behmel Syndrome, Type 1	Enlarged kidney, Meckel diverticulum, Cardiomyopathy, Pulmonic stenosis, Intestinal malrotation, ...	OMIM:312870
Fanconi Anemia, Complementation Group A	Male infertility, Ectopic kidney, Hypergonadotropic hypogonadism, Abnormal heart morphology, Hors...	OMIM:227650
Porphyria, Congenital Erythropoietic	Jaundice, Hepatomegaly, Red urine, Cholelithiasis, Increased fecal coproporphyrin 1, Thrombocytop...	OMIM:263700
Cutis Laxa, Autosomal Recessive, Type Iic	Patent foramen ovale, High palate, Bilateral cryptorchidism, Median cleft palate, Pyloric stenosi...	OMIM:617402
Smith-Lemli-Opitz Syndrome	Clitoral hypertrophy, Abnormality of the gallbladder, Atrioventricular canal defect, Hypospadias,...	ORPHA:818
Sarcoidosis, Susceptibility To, 1	Enlarged lacrimal glands, Hepatomegaly, Mediastinal lymphadenopathy, Abnormal salivary gland morp...	OMIM:181000
Ulnar-Mammary Syndrome	Delayed puberty, Breast hypoplasia, Anal stenosis, Anterior pituitary hypoplasia, Hypoplastic nip...	OMIM:181450
Common Variable Immunodeficiency	Lymphadenopathy, Gastrointestinal stroma tumor, Anal atresia, Splenomegaly, Lymphopenia, Abnormal...	ORPHA:1572
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency	Jaundice, Fava bean-induced hemolytic anemia, Leukocytosis, Reticulocytosis, Poikilocytosis, Prol...	OMIM:300908
Gaucher Disease, Type Iiic	Hepatomegaly, Pancytopenia, Mitral valve calcification, Mitral stenosis, Splenomegaly, Aortic val...	OMIM:231005
47,Xyy Syndrome	Male infertility, Hypospadias, Azoospermia, Oligozoospermia, Micropenis	ORPHA:8
Pancreatic Agenesis 1	Pancreatic hypoplasia, Exocrine pancreatic insufficiency, Pancreatic aplasia, Neonatal insulin-de...	OMIM:260370
Hereditary Amyloidosis With Primary Renal Involvement	Male infertility, Decreased glomerular filtration rate, Tubulointerstitial fibrosis, Nephropathy,...	ORPHA:85450
Telo2-Related Intellectual Disability-Neurodevelopmental Disorder	Annular pancreas, Cleft palate, Ankyloglossia	ORPHA:488642
Bannayan-Riley-Ruvalcaba Syndrome	Narrow palate, Thyroid carcinoma, Intestinal polyposis, Neoplasm of the adrenal cortex, Hamartoma...	ORPHA:109
Menke-Hennekam Syndrome 2	Duodenal ulcer	OMIM:618333
Kikuchi-Fujimoto Disease	Myocarditis, Hepatomegaly, Anemia, Lymphadenopathy, Abnormal lymph node morphology, Abnormality o...	ORPHA:50918
Epidermolysis Bullosa Simplex With Pyloric Atresia	Glomerular sclerosis, Congenital pyloric atresia, Ureterocele, Hydronephrosis, Abnormality of the...	ORPHA:158684
Crimean-Congo Hemorrhagic Fever	Hematemesis, Inappropriate antidiuretic hormone secretion, Ascites, Leukopenia, Splenomegaly, Cho...	ORPHA:99827
Granulomatous Disease, Chronic, X-Linked	Liver abscess, Hepatomegaly, Lymphadenopathy, Rectal abscess, Lymphadenitis, Ascites, Splenomegal...	OMIM:306400
Viss Syndrome	Coronary sinus enlargement, Intestinal malrotation, Malposition of the stomach, Bifid uvula, Dysp...	OMIM:619472
Partial Androgen Insensitivity Syndrome	Male infertility, Hypospadias, Azoospermia, Urogenital sinus anomaly, Male sexual dysfunction, Pr...	ORPHA:90797
Short-Rib Thoracic Dysplasia 15 With Polydactyly	Hydrometrocolpos, Hepatomegaly, Atrioventricular canal defect, Aplasia of the epiglottis, Splenom...	OMIM:617088
Cornelia De Lange Syndrome	Delayed puberty, Hypospadias, Multicystic kidney dysplasia, Hypoplasia of penis, Gastroesophageal...	ORPHA:199
Reynolds Syndrome	Gastrointestinal hemorrhage, Jaundice, Hepatomegaly, Steatorrhea, Cholestasis, Biliary cirrhosis,...	OMIM:613471
Wolf-Hirschhorn Syndrome	Hypospadias, Gastroesophageal reflux, Accessory spleen, Aplasia of the uterus, Ventricular septal...	OMIM:194190
Biliary, Renal, Neurologic, And Skeletal Syndrome	Inlet ventricular septal defect, Intrahepatic bile duct dilatation, Cholestasis, Biliary cirrhosi...	OMIM:619534
Yunis-Varon Syndrome	Clitoral hypertrophy, High, narrow palate, Hypospadias, Renal artery stenosis, Ventricular septal...	ORPHA:3472
Familial Adenomatous Polyposis Due To 5Q22.2 Microdeletion	Iron deficiency anemia, Adenomatous colonic polyposis, High palate, Colon cancer, Intestinal blee...	ORPHA:261584
Chronic Visceral Acid Sphingomyelinase Deficiency	Delayed puberty, Cirrhosis, Hepatomegaly, Cholelithiasis, Acute promyelocytic leukemia, Abnormal ...	ORPHA:77293
Mowat-Wilson Syndrome	Aganglionic megacolon, Hypospadias, Bifid scrotum, Ventricular septal defect, Pulmonic stenosis, ...	OMIM:235730
Ciliary Dyskinesia, Primary, 1	Situs inversus totalis, Male infertility	OMIM:244400
Iniencephaly	Anal atresia, Duodenal atresia	ORPHA:63259
Ectodermal Dysplasia And Immunodeficiency 2	Recurrent infection of the gastrointestinal tract, Hepatomegaly, Aplasia of the sweat glands, Spl...	OMIM:612132
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency	Decreased fertility, Male infertility, Hypospadias, Increased urinary 11-deoxycorticosterone leve...	ORPHA:90793
Plague	Hematemesis, Hepatomegaly, Glossitis, Lymphadenitis, Inflammation of the large intestine, Enteroc...	ORPHA:707
Pancreatic Agenesis-Holoprosencephaly Syndrome	Absent gallbladder, High palate, Pancreatic aplasia, Neonatal insulin-dependent diabetes mellitus	ORPHA:556955
Alström Syndrome	Urinary incontinence, Precocious puberty in females, Primary hypothyroidism, Splenomegaly, Decrea...	ORPHA:64
Mowat-Wilson Syndrome	Urinary incontinence, Bifid scrotum, Pulmonic stenosis, Aortic valve stenosis, Abnormal heart mor...	ORPHA:2152
Mowat-Wilson Syndrome Due To Monosomy 2Q22	Urinary incontinence, Bifid scrotum, Pulmonic stenosis, Aortic valve stenosis, Abnormal heart mor...	ORPHA:261537
Branchiooculofacial Syndrome	Hypospadias, Gastroesophageal reflux, Duplication of internal organs, Renal cyst, Pyloric stenosi...	OMIM:113620
Microphthalmia, Syndromic 1	Rectal prolapse, Aganglionic megacolon, Hydroureter, Hypospadias, High, narrow palate, High palat...	OMIM:309800
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation	Urinary incontinence, Bifid scrotum, Pulmonic stenosis, Aortic valve stenosis, Abnormal heart mor...	ORPHA:261552
46,Xy Partial Gonadal Dysgenesis	Male infertility, Hypospadias, Decreased fertility in females, Hypoplasia of penis, Azoospermia, ...	ORPHA:251510
Autosomal Dominant Cutis Laxa	Unilateral renal agenesis, Small bowel diverticula, Bladder diverticulum, Dilatation of the ventr...	ORPHA:90348
Cystic Fibrosis	Hypercalciuria, Male infertility, Cor pulmonale	OMIM:219700
Necrotizing Encephalomyelopathy, Subacute, Of Leigh, Adult	Gastric hypertrophy, Gastric ulcer	OMIM:161700

Histopathology

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

There is no histopathology data for Pramel12

This gene doesn't have any significant Histopathology hits. Please click here to see the raw data.

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Pramel12.

No publications found that use IMPC mice or data for Pramel12.

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All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele	Allele Type	Produced
Pramel12^{tm1e(KOMP)Wtsi}	Targeted, non-conditional allele	ES Cells
Pramel12^{tm1a(KOMP)Wtsi}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors, ES Cells
Pramel12^{tm43951(L1L2_gt0)}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors
Pramel12^em1(IMPC)Mbp	Intra-exon deletion	Mice, Tissue

Sequence

Guides

Sequence	Guide sequence	pam	chr	start	stop	strand	Genome build	gRNA Concentration	Truncated Guide	Reversed	Sanger service	Guide format	Guide source

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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Gene: Pramel12 MGI:2140473

Gene Summary

IMPC Data Collections

IMPC Phenotype Summary

Phenotypes

lacZ Expression

Associated Images

X-ray

X-ray

X-ray

X-ray

Histopathology

Human diseases caused by Pramel12 mutations

Histopathology

IMPC related publications

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Access Data Release 21.0 Data