banner
Genes Phenotypes Help, News, Blog

Gene: Yipf6 MGI:1925179

Log in to follow

Gene Summary

Name:
Yip1 domain family, member 6
Synonyms:
A430107J06Rik

Order Alleles

IMPC Data Collections

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 System Allele Zyg Sex Life Stage P Value
anophthalmia Yipf6em1(IMPC)Mbp HOM Early adult 0.00
abnormal eye morphology Yipf6em1(IMPC)Mbp HOM Early adult 0.00
increased monocyte cell number Yipf6em1(IMPC)Mbp HOM Early adult 4.30×10-06
microphthalmia Yipf6em1(IMPC)Mbp HOM Early adult 0.00

Download data as:  TSV  XLS

Select physiological systems to view:
Viewing: all phenotypes
Select physiological systems to view:
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 Lateral Orientation

40 Images

View images
X-ray

XRay Images Whole Body Dorso Ventral

96 Images

View images

Human diseases caused by Yipf6 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 Yipf6 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Epilepsy With Bilateral Occipital Calcifications
Celiac disease OMIM:226810
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome
Microphthalmia, Anophthalmia ORPHA:85275
Meckel Diverticulum
Meckel diverticulum OMIM:155140
Blood Group, Cromer System
Protein-losing enteropathy OMIM:613793
Nanophthalmos 1
Bilateral microphthalmos OMIM:600165
Microphthalmia, Isolated 7
Microphthalmia OMIM:613704
Nanophthalmos 2
Microphthalmia OMIM:609549
Masp2 Deficiency
Recurrent pneumonia, Ulcerative colitis OMIM:613791
Inflammatory Bowel Disease 29
Crohn's disease, Ulcerative colitis OMIM:618077
Appendicitis, Proneness To
Abnormal large intestine morphology OMIM:107700
Microphthalmia, Isolated 1
Microphthalmia, Anophthalmia OMIM:251600
Inflammatory Bowel Disease 3
Ulcerative colitis OMIM:604519
Inflammatory Bowel Disease 21
Ulcerative colitis OMIM:612354
Inflammatory Bowel Disease (Crohn Disease) 30
Protein-losing enteropathy, Gastritis, Pancolitis, Abdominal pain, Chronic diarrhea, Abnormal int... OMIM:619079
Inflammatory Bowel Disease 13
Inflammation of the large intestine OMIM:612244
Inflammatory Bowel Disease (Crohn Disease) 19
Inflammation of the large intestine OMIM:612278
Diarrhea 8, Secretory Sodium, Congenital
Abdominal distention, Inflammation of the large intestine, Elevated fecal sodium, Secretory diarrhea OMIM:616868
Cutaneous Photosensitivity And Colitis, Lethal
Diarrhea, Colitis OMIM:219095
Ficolin 3 Deficiency
Necrotizing enterocolitis OMIM:613860
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive
Bloody diarrhea, Ulcerative colitis OMIM:619398
Inflammatory Bowel Disease (Crohn Disease) 1
Intestinal obstruction, Recurrent aphthous stomatitis, Diarrhea, Crohn's disease, Abdominal pain,... OMIM:266600
Lactose Intolerance, Adult Type
Diarrhea, Decreased small intestinal mucosa lactase level, Lactose intolerance, Abdominal pain, F... OMIM:223100
Inflammatory Bowel Disease 28, Autosomal Recessive
Perianal abscess, Pyoderma, Crohn's disease, Folliculitis, Enterocolitis, Hematochezia, Colitis OMIM:613148
Jejunal Atresia
Jejunal atresia OMIM:243600
Diarrhea 5, With Tufting Enteropathy, Congenital
Intractable diarrhea, Arthritis, Failure to thrive, Crypt hyperplasia, Small for gestational age,... OMIM:613217
Microphthalmia/Coloboma 10
Microphthalmia, Anophthalmia OMIM:616428
Neutropenia, Severe Congenital, 2, Autosomal Dominant
B lymphocytopenia, Monocytosis, Neutropenia OMIM:613107
Hirschsprung Disease, Susceptibility To, 1
Abdominal distention, Aganglionic megacolon, Vomiting, Enterocolitis, Constipation, Abnormal ente... OMIM:142623
Inflammatory Bowel Disease 25, Autosomal Recessive
Perianal abscess, Rectovaginal fistula, Pancolitis, Folliculitis, Enterocolitis, Enterocutaneous ... OMIM:612567
Autoinflammatory Disease, Familial, Behcet-Like 3
Ileitis OMIM:618287
Microphthalmia/Coloboma 5
Bilateral microphthalmos, Microphthalmia, Anophthalmia OMIM:611638
5-Oxoprolinase Deficiency
Diarrhea, Enterocolitis, Vomiting, Abdominal pain OMIM:260005
Inflammatory Bowel Disease 11
Diarrhea, Abdominal pain, Inflammation of the large intestine, Hematochezia, Weight loss OMIM:191390
Multiple Intestinal Atresia
Gastrointestinal atresia, Duodenal stenosis ORPHA:2300
Diarrhea 9
Diarrhea, Failure to thrive, Villous atrophy OMIM:618168
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Obesity, Colitis ORPHA:88643
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Anemia, Thrombocytosis, Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Monoc... OMIM:202700
Neutropenia, Severe Congenital, 10, Autosomal Recessive
Anorectal abscess, Anemia, Thrombocytopenia, Monocytosis, Neutropenia OMIM:620534
Bile Acid Malabsorption, Primary, 1
Steatorrhea, Increased fecal bile acid, Chronic diarrhea, Failure to thrive, Fat malabsorption OMIM:613291
Visceral Myopathy 2
Intestinal obstruction, Rectal prolapse, Gastroesophageal reflux, Intestinal pseudo-obstruction, ... OMIM:619350
Microphthalmia, Syndromic 16
Microphthalmia, Anophthalmia OMIM:611038
Pseudomyxoma Peritonei
Intestinal obstruction, Abnormal peritoneum morphology, Abdominal pain, Constipation, Inflammatio... ORPHA:26790
Diarrhea 7, Protein-Losing Enteropathy Type
Protein-losing enteropathy, Diarrhea, Vomiting, Failure to thrive, Abdominal colic, Villous atrophy OMIM:615863
Epidermolysis Bullosa Acquisita
Inflammation of the large intestine, Abdominal pain ORPHA:46487
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome
Esophageal neoplasm, Gastrointestinal hemorrhage, Hepatomegaly, Abnormal esophagus physiology, Ga... ORPHA:2198
Microphthalmia, Isolated, With Cataract 1
Microphthalmia OMIM:156850
Chronic Diarrhea Due To Glucoamylase Deficiency
Abdominal distention, Dyspepsia, Abnormal small intestinal mucosa morphology, Decreased small int... ORPHA:103907
Diarrhea 2, With Microvillus Atrophy, With Or Without Cholestasis
Malnutrition, Abnormal intestine morphology, Protracted diarrhea, Villous atrophy OMIM:251850
Autoimmune Disease, Multisystem, Infantile-Onset, 2
Minimal change glomerulonephritis, Colitis OMIM:617006
Immunodeficiency 37
Infectious encephalitis, Colitis OMIM:616098
Premature Ovarian Failure 12
Microphthalmia OMIM:616947
Microphthalmia/Coloboma 6
Hypoplasia of the fovea, Bilateral microphthalmos, Optic disc hypoplasia OMIM:613703
Immunodeficiency, Common Variable, 11
Crohn's disease, Failure to thrive, Mucoid diarrhea, Inflammation of the large intestine OMIM:615767
Autoinflammatory Syndrome, Familial, Behcet-Like 1
Skin rash, Anterior uveitis, Ileal ulcer, Colitis OMIM:616744
Lymphoproliferative Syndrome, X-Linked, 2
Hepatomegaly, Folliculitis, Inflammation of the large intestine, Splenomegaly, Acne, Erythema nod... OMIM:300635
Congenital Short Bowel Syndrome
Abdominal distention, Steatorrhea, Projectile vomiting, Chronic diarrhea, Abnormal peristalsis, C... OMIM:615237
Microphthalmia/Coloboma 4
Microphthalmia OMIM:251505
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3
Microphthalmia OMIM:616335
Secondary Short Bowel Syndrome
Abdominal distention, Steatorrhea, Aganglionic megacolon, Diarrhea, Small intestinal dysmotility,... ORPHA:95427
Immunodeficiency 11B With Atopic Dermatitis
Pneumonia, Chronic diarrhea, Atopic dermatitis, Colonic eosinophilia, Bronchiectasis, Ulcerative ... OMIM:617638
Immunodeficiency 76
Chronic diarrhea, Recurrent pneumonia, Splenomegaly, Colitis OMIM:619164
Microphthalmia, Isolated 2
Microphthalmia OMIM:610093
Gombo Syndrome
Microphthalmia OMIM:233270
Immunodeficiency 70
Furuncle, Recurrent sinusitis, Celiac disease, Achalasia, Colitis OMIM:618969
Trichohepatoenteric Syndrome 2
Cirrhosis, Hepatomegaly, Diarrhea, Chronic diarrhea, Colitis, Bloody diarrhea, Failure to thrive,... OMIM:614602
Diarrhea 11, Malabsorptive, Congenital
Diarrhea, Villous atrophy OMIM:618662
Small Bowel Atresia
Abdominal distention, Intestinal hypoplasia, Intestinal malrotation, Failure to thrive, Vomiting,... ORPHA:1201
Cataracts, Hearing Impairment, Nephrotic Syndrome, And Enterocolitis 2
Enterocolitis OMIM:620425
Linear Iga Dermatosis
Inflammation of the large intestine ORPHA:46488
Ras-Associated Autoimmune Leukoproliferative Disorder
Pancytopenia, Lymphocytosis, Splenomegaly, Hemolytic anemia, Autoimmune thrombocytopenia, Monocyt... OMIM:614470
Microphthalmia/Coloboma 7
Microphthalmia OMIM:614497
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To
Refractory anemia, Monocytosis, Leukopenia, Acute myeloid leukemia OMIM:616871
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies
Microphthalmia OMIM:251700
Radiation Proctitis
Intestinal obstruction, Rectal fistula, Abnormal gastrointestinal vascular morphology, Arteritis,... ORPHA:70475
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne
Arthritis, Sterile arthritis, Cystic acne, Hepatosplenomegaly, Acne, Colitis OMIM:604416
Alpha-Heavy Chain Disease
Hepatomegaly, Abdominal pain, Splenomegaly, Malabsorption, Abnormal small intestine morphology ORPHA:100025
Immunodeficiency 57 With Autoinflammation
Perianal abscess, Gastritis, Diarrhea, Skin rash, Failure to thrive, Inflammation of the large in... OMIM:618108
Microphthalmia/Coloboma 3
Microphthalmia OMIM:610092
Fryns Microphthalmia Syndrome
Microphthalmia, Anophthalmia OMIM:600776
Diarrhea 12, With Microvillus Atrophy
Abdominal distention, Microvillar PAS-positive secretory granules, Vomiting, Secretory diarrhea, ... OMIM:619445
Microphthalmia, Isolated 8
Optic nerve hypoplasia, Microphthalmia, True anophthalmia, Anophthalmia OMIM:615113
Fanconi Anemia, Complementation Group G
Microphthalmia, Anemia, Thrombocytopenia, Leukemia, Neutropenia OMIM:614082
Autoinflammation With Infantile Enterocolitis
Episodic vomiting, Skin rash, Enterocolitis, Failure to thrive, Secretory diarrhea, Splenomegaly,... OMIM:616050
Immunodeficiency 14B, Autosomal Recessive
Chronic diarrhea, Inflammation of the large intestine, Recurrent sinusitis, Recurrent pneumonia, ... OMIM:619281
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy
Jejunoileal ulceration, Small bowel diverticula, Fat malabsorption OMIM:221400
Bare Lymphocyte Syndrome, Type Ii
Cholangitis, Colitis, Chronic mucocutaneous candidiasis, Viral hepatitis, Failure to thrive, Bili... OMIM:209920
Nanophthalmos 4
Microphthalmia OMIM:615972
Nanophthalmos
Microphthalmia ORPHA:35612
Mitochondrial Complex Iv Deficiency, Nuclear Type 19
Increased mitochondrial number, Protein-losing enteropathy OMIM:619063
Microphthalmia, Isolated 4
Microphthalmia OMIM:613094
Granulomatous Disease, Chronic, Autosomal Recessive, 3
Perioral eczema, Recurrent aphthous stomatitis, Anoperineal fistula, Diarrhea, Abdominal pain, Re... OMIM:613960
Gastroesophageal Reflux
Esophageal neoplasm, Barrett esophagus, Esophagitis, Gastroesophageal reflux OMIM:109350
Immunodeficiency 15B
Monocytosis, Reduced natural killer cell count OMIM:615592
Agammaglobulinemia 4, Autosomal Recessive
Chronic sinusitis, Recurrent pneumonia, Protein-losing enteropathy, Recurrent otitis media OMIM:613502
Microphthalmia, Syndromic 12
Microphthalmia, Anophthalmia OMIM:615524
Annular Pancreas
High intestinal obstruction, Annular pancreas, Duodenal stenosis ORPHA:675
Pancreas, Annular
High intestinal obstruction, Annular pancreas, Duodenal stenosis OMIM:167750
Vascular Hyalinosis
Diarrhea, Protein-losing enteropathy, Hematochezia, Malabsorption OMIM:277175
Chylomicron Retention Disease
Steatorrhea, Diarrhea, Accumulation of lipid droplets in small-bowel enterocytes, Vomiting, Failu... OMIM:246700
Immunodeficiency 60 And Autoimmunity
Crohn's disease, Chronic diarrhea, Splenomegaly, Bronchiectasis, Ulcerative colitis, Colitis OMIM:618394
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Recurrent sinusitis, Hepatosplenomegaly, Splenomegaly, Colitis OMIM:613101
Hypercholanemia, Familial 1
Failure to thrive, Steatorrhea, Fat malabsorption OMIM:607748
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Ileal atresia, Intestinal obstruction, Bloody diarrhea, Hypoplasia of the thymus, Psoriasiform de... OMIM:243150
Adult Idiopathic Neutropenia
Monocytopenia, Monocytosis, Neutropenia, Lymphopenia ORPHA:2688
Anencephaly 2
Anophthalmia OMIM:619452
Congenital Enterocyte Heparan Sulfate Deficiency
Abdominal distention, Protein-losing enteropathy, Diarrhea, Hematochezia, Weight loss ORPHA:103910
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome
Microphthalmia ORPHA:1574
Dyskeratosis Congenita, Autosomal Recessive 5
Esophageal stenosis, Colitis OMIM:615190
Congenital Tufting Enteropathy
Cholestatic liver disease, Abnormal large intestinal mucosa morphology, Steatorrhea, Elevated fec... ORPHA:92050
Immunodeficiency 40
Intermittent diarrhea, Rectal fistula, Hepatomegaly, Macrovesicular hepatic steatosis, Chronic or... OMIM:616433
Esophagitis, Eosinophilic, 1
Vomiting, Failure to thrive, Esophagitis, Dysphagia OMIM:610247
Esophagitis, Eosinophilic, 2
Vomiting, Failure to thrive, Esophagitis, Dysphagia OMIM:613412
Homozygous 11P15-P14 Deletion Syndrome
Diarrhea, Abnormal intestine morphology, Vomiting, Failure to thrive, Feeding difficulties in inf... OMIM:606528
Cataract 11, Multiple Types
Microphthalmia OMIM:610623
Proton-Pump Inhibitor-Responsive Esophageal Eosinophilia
Esophageal food impaction, Esophageal atresia, Gastroesophageal reflux, Eosinophilic microabscess... ORPHA:411696
Pancreatic Lipase Deficiency
Steatorrhea, Fat malabsorption OMIM:614338
Autoinflammation, Immune Dysregulation, And Eosinophilia
Eosinophilic liver infiltration, Atopic dermatitis, Failure to thrive, Hepatosplenomegaly, Coloni... OMIM:618999
Eosinophilic Gastroenteritis
Steatorrhea, Protein-losing enteropathy, Abnormality of the gastrointestinal tract, Diarrhea, Abd... ORPHA:2070
Chronic Intestinal Pseudoobstruction
Pyloric stenosis, Intestinal malrotation, Abnormal intestine morphology ORPHA:2978
Feingold Syndrome Type 2
Jejunal atresia ORPHA:391646
Lactase Deficiency, Congenital
Diarrhea, Decreased small intestinal mucosa lactase level, Lactose intolerance OMIM:223000
Inflammatory Skin And Bowel Disease, Neonatal, 1
Bloody diarrhea, Duodenitis, Blepharitis, Failure to thrive, Pustule, Erythroderma, Villous atrophy OMIM:614328
Alopecia Totalis
Inflammation of the large intestine ORPHA:700
Solitary Rectal Ulcer Syndrome
Intermittent diarrhea, Rectal prolapse, Anal fissure, Abdominal pain, Bloody diarrhea, Decreased ... ORPHA:209964
Autoinflammation, Antibody Deficiency, And Immune Dysregulation
Enterocolitis, Ulcerative colitis, Interstitial pneumonitis OMIM:614878
Macrosomia-Microphthalmia-Cleft Palate Syndrome
Microphthalmia ORPHA:2432
Pancreatic Colipase Deficiency
Steatorrhea, Cholelithiasis, Chronic diarrhea, Exocrine pancreatic insufficiency, Fat malabsorption ORPHA:309108
Mpi-Cdg
Decreased liver function, Gastrointestinal hemorrhage, Protein-losing enteropathy, Hepatomegaly, ... ORPHA:79319
Immunodeficiency, Common Variable, 8, With Autoimmunity
Pneumonia, Recurrent otitis media, Chronic diarrhea, Colitis, Thyroiditis, Arthritis, Uveitis, Br... OMIM:614700
Mitchell-Riley Syndrome
Annular pancreas, Biliary atresia, Meckel diverticulum, Diarrhea, Pancreatic hypoplasia, Cholesta... OMIM:615710
Hyperphosphatasia With Impaired Intellectual Development Syndrome 6
Abdominal pain, Necrotizing enterocolitis, High palate, Vomiting, Feeding difficulties OMIM:616809
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked
Abdominal distention, Intestinal pseudo-obstruction, Congenital shortened small intestine, Intest... OMIM:300048
Oculocerebrocutaneous Syndrome
Microphthalmia, Anophthalmia OMIM:164180
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency
Hepatomegaly, Diarrhea, Crohn's disease, Optic neuritis, Thyroiditis, Atopic dermatitis, Eczemato... ORPHA:436159
Martinez-Frias Syndrome
Annular pancreas, Hypoplasia of the gallbladder, Pancreatic hypoplasia, Intestinal hypoplasia, Tr... OMIM:601346
Colonic Atresia
Peptic ulcer, Abdominal distention, Duodenal stenosis, Colonic atresia, Abnormal mesentery morpho... ORPHA:1198
X-Linked Severe Congenital Neutropenia
Monocytopenia, Neutropenia ORPHA:86788
Cataracts, Hearing Impairment, Nephrotic Syndrome, And Enterocolitis 1
Enterocolitis, Decreased pineal volume, Failure to thrive OMIM:301108
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2
Perianal abscess, Anoperineal fistula, Diarrhea, Chronic gastritis, Skin rash, Abdominal pain, Ar... OMIM:301074
Congenital Disorder Of Glycosylation, Type Ib
Steatorrhea, Protein-losing enteropathy, Cirrhosis, Hepatomegaly, Diarrhea, Hepatic failure, Vomi... OMIM:602579
Diarrhea 6
Crohn's disease, Chronic diarrhea, Meteorism, Abdominal pain OMIM:614616
Neutropenia, Severe Congenital, X-Linked
Monocytopenia, Decreased CD4:CD8 ratio, Neutropenia OMIM:300299
Hyperlipoproteinemia, Type Id
Hepatomegaly, Pancreatitis, Failure to thrive, Splenomegaly, Recurrent pancreatitis, Colitis OMIM:615947
Amoebiasis Due To Entamoeba Histolytica
Intestinal obstruction, Liver abscess, Acute colitis, Abdominal pain, Diarrhea, Bloody diarrhea, ... ORPHA:67
Microphthalmia, Isolated 6
Microphthalmia OMIM:613517
Immunodeficiency 58
Chronic otitis media, Recurrent aphthous stomatitis, Seborrheic dermatitis, Chronic diarrhea, Chr... OMIM:618131
Combined Immunodeficiency Due To Zap70 Deficiency
Chronic oral candidiasis, Stomatitis, Chronic diarrhea, Skin rash, Chronic mucocutaneous candidia... ORPHA:911
Autosomal Dominant Severe Congenital Neutropenia
Aplastic anemia, Acute myeloid leukemia, Acute lymphoblastic leukemia, Lymphopenia, Eosinophilia,... ORPHA:486
Visceral Myopathy 1
Abdominal distention, Thinning of outer muscular layer of small bowel, Aganglionic megacolon, Pan... OMIM:155310
Visceral Neuropathy, Familial, 1, Autosomal Recessive
Aganglionic megacolon, Intestinal pseudo-obstruction, Episodic abdominal pain, Intestinal malrota... OMIM:243180
Cholestasis, Progressive Familial Intrahepatic, 2
Cirrhosis, Intrahepatic cholestasis, Hepatomegaly, Diarrhea, Hepatocellular carcinoma, Intermitte... OMIM:601847
Shigellosis
Cholestasis, Paralytic ileus, Anorexia, Myocarditis, Abdominal pain, Splenic abscess, Nausea, Abd... ORPHA:810
Meckel Syndrome, Type 8
Microphthalmia, Anophthalmia OMIM:613885
Autoimmune Hepatitis
Gastrointestinal hemorrhage, Jaundice, Cirrhosis, Sclerosing cholangitis, Acute hepatitis, Abdomi... ORPHA:2137
Facial Clefting, Oblique, 1
Microphthalmia OMIM:600251
Congenital Varicella Syndrome
Microphthalmia ORPHA:291
Pyoderma Gangrenosum
Myositis, Inflammation of the large intestine, Pustule, Rheumatoid arthritis ORPHA:48104
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis
Arthritis, Skin rash, Inflammation of the large intestine, Palmoplantar pustulosis, Poor appetite... ORPHA:324964
Foveal Hypoplasia 2
Microphthalmia, Hypoplasia of the fovea OMIM:609218
Alg6-Cdg
Protein-losing enteropathy, Jaundice, Failure to thrive, Feeding difficulties, Abnormality of the... ORPHA:79320
Dyskeratosis Congenita, Autosomal Recessive 8
Pancolitis, Inflammation of the large intestine, Esophageal stricture, Oral leukoplakia OMIM:620133
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency
Recurrent otitis media, Chronic diarrhea, Chronic mucocutaneous candidiasis, Eczematoid dermatiti... ORPHA:98813
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Cachexia, Abnormal intestine morphology, Splenomegaly, Psoriasiform dermatitis, Dependency on int... ORPHA:37042
Hennekam Lymphangiectasia-Lymphedema Syndrome 3
Protein-losing enteropathy, Feeding difficulties, Hydrocele testis OMIM:618154
Pigmentary Disorder, Reticulate, With Systemic Manifestations, X-Linked
Chronic diarrhea, Recurrent pneumonia, Bronchiectasis, Failure to thrive in infancy, Colitis OMIM:301220
Immunodeficiency 91 And Hyperinflammation
Hemophagocytosis, Neutrophilia, Thrombocytopenia, Hepatosplenomegaly, Monocytosis OMIM:619644
Hirschsprung Disease, Susceptibility To, 3
Long-segment aganglionic megacolon, Aganglionic megacolon, Total colonic aganglionosis OMIM:613711
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Anorexia, Protein-losing enteropathy, Glossitis, Cachexia, Abdominal pain, Diarrhea, Hamartomatou... OMIM:175500
Thoraco-Abdominal Enteric Duplication
Intestinal malrotation, Duodenal stenosis, Hepatomegaly ORPHA:1759
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Perianal abscess, Anal fissure, Crohn's disease, Acute pancreatitis, Lymphadenitis, Eczematoid de... OMIM:618935
Cerebrooculofacioskeletal Syndrome 3
Microphthalmia OMIM:616570
Bile Acid Synthesis Defect, Congenital, 1
Steatorrhea, Cirrhosis, Intrahepatic cholestasis, Jaundice, Hepatomegaly, Giant cell hepatitis, D... OMIM:607765
Mmep Syndrome
Microphthalmia ORPHA:3434
Spondyloarthropathy, Susceptibility To, 1
Hip osteoarthritis, Inflammation of the large intestine, Sacroiliac arthritis, Enthesitis, Anteri... OMIM:106300
Immunodeficiency 21
Aplastic anemia, Anemia, Neutropenia, B lymphocytopenia, Lymphopenia, Monocytopenia, Reduced natu... OMIM:614172
Duodenal Atresia
Annular pancreas, Abnormality of the pancreas, Duodenal atresia ORPHA:1203
Ganglioneuroma
Gastrointestinal hemorrhage, Colorectal polyposis, Multiple intestinal neurofibromatosis, Abnorma... ORPHA:251992
Pancreatic Triacylglycerol Lipase Deficiency
Abdominal distention, Steatorrhea, Diarrhea, Abdominal pain, Exocrine pancreatic insufficiency, W... ORPHA:309031
Mungan Syndrome
Gastroparesis, Intestinal pseudo-obstruction, Abdominal pain, Barrett esophagus, Hypoperistalsis,... OMIM:611376
Nk-Cell Enteropathy
Duodenal ulcer, Gastroesophageal reflux, Diarrhea, Abdominal pain, Abnormal gastric mucosa morpho... ORPHA:263665
Alg1-Cdg
Decreased liver function, Chronic diarrhea, Protein-losing enteropathy, Abnormality of the gastro... ORPHA:79327
Cyclic Neutropenia
Perianal abscess, Periodontitis, Abdominal pain, Sinusitis, Enterocolitis, Peritonitis, Otitis me... ORPHA:2686
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development
Microphthalmia OMIM:120433
Proprotein Convertase 1/3 Deficiency
Diarrhea, Obesity, Malabsorption, Villous atrophy OMIM:600955
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome
Anophthalmia ORPHA:411986
Microcephaly-Microcornea Syndrome, Seemanova Type
Microphthalmia ORPHA:2528
Xeroderma Pigmentosum, Complementation Group G
Microphthalmia OMIM:278780
Microphthalmia, Isolated, With Corectopia
Microphthalmia OMIM:156900
Cholestasis, Progressive Familial Intrahepatic, 1
Cirrhosis, Jaundice, Hepatomegaly, Cholelithiasis, Diarrhea, Intrahepatic cholestasis with episod... OMIM:211600
Immunodeficiency 97 With Autoinflammation
Recurrent otitis media, Diarrhea, Abdominal pain, Eczematoid dermatitis, Enterocolitis, Hepatospl... OMIM:619802
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8
Microphthalmia OMIM:614830
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Rectal prolapse, Pancreatitis, Acute colitis, Abdominal pain, Diarrhea, Intestinal perforation, B... ORPHA:90038
Refractory Celiac Disease
Protein-losing enteropathy, Jejunitis, Chronic diarrhea, Abdominal pain, Inflammatory abnormality... ORPHA:398063
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Hepatomegaly, Gastroesophageal reflux, Periportal fibrosis, Episodic vomiting, Necrotizing entero... OMIM:201475
Hyper-Ige Syndrome 6, Autosomal Dominant, With Recurrent Infections
Gastroesophageal reflux, Atopic dermatitis, Gastrointestinal eosinophilia, Eosinophilic infiltrat... OMIM:620532
Adams-Oliver Syndrome 4
Microphthalmia OMIM:615297
Oculotrichoanal Syndrome
Microphthalmia, Anophthalmia ORPHA:2717
Zygomycosis
Hematemesis, Gastrointestinal hemorrhage, Acute infectious pneumonia, Sinusitis, Pericarditis, Pu... ORPHA:73263
Pelvic Organ Prolapse, Susceptibility To
Rectal prolapse, Bowel incontinence OMIM:176780
Duodenal Atresia
Duodenal atresia OMIM:223400
Squamous Cell Carcinoma Of The Anal Canal
Rectal prolapse, Anal stenosis, Anal canal squamous cell carcinoma, Neoplasm of the rectum, Abdom... ORPHA:424019
Immunodeficiency 11A
Monocytopenia, Decreased proportion of CD4+CD25+ regulatory T cells OMIM:615206
Trigonocephaly 1
Meckel diverticulum, High, narrow palate OMIM:190440
Hermansky-Pudlak Syndrome 1
Inflammation of the large intestine, Hematochezia, Abdominal pain, Colitis OMIM:203300
Sapho Syndrome
Steatorrhea, Chronic diarrhea, Skin rash, Abdominal pain, Arthritis, Synovitis, Inflammation of t... ORPHA:793
Familial Hemophagocytic Lymphohistiocytosis
Cholestatic liver disease, Decreased liver function, Hepatomegaly, Jaundice, Skin rash, Splenomeg... ORPHA:540
Mednik Syndrome
Cirrhosis, Diarrhea, Cholestasis, Microcolon, Volvulus, Hepatic fibrosis, Jejunal atresia OMIM:609313
Congenital Disorder Of Glycosylation, Type Iil
Cirrhosis, Hepatomegaly, Chronic diarrhea, Esophageal varix, Cholestasis, Inflammation of the lar... OMIM:614576
Meconium Ileus
Chronic diarrhea, Meconium ileus, Microcolon OMIM:614665
Cataract 9, Multiple Types
Microphthalmia OMIM:604219
Congenital Disorder Of Glycosylation, Type Ih
Decreased liver function, Abdominal distention, Hepatomegaly, Protein-losing enteropathy, Diarrhe... OMIM:608104
Craniotelencephalic Dysplasia
Optic nerve hypoplasia, Microphthalmia OMIM:218670
Microvillus Inclusion Disease
Abnormal small intestinal villus morphology, Abdominal distention, Diarrhea, Villous atrophy ORPHA:2290
Hirschsprung Disease, Susceptibility To, 2
Aganglionic megacolon OMIM:600155
Hirschsprung Disease, Susceptibility To, 5
Aganglionic megacolon OMIM:600156
Hirschsprung Disease, Susceptibility To, 4
Aganglionic megacolon OMIM:613712
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma
Microphthalmia OMIM:267760
Iga Pemphigus
Neutrophilic infiltration of the skin, Pustule, Cutaneous abscess, Ulcerative colitis ORPHA:555905
Cog8-Cdg
Failure to thrive, Protein-losing enteropathy ORPHA:95428
Idiopathic Uveal Effusion Syndrome
Microphthalmia ORPHA:209956
Immunodeficiency 82 With Systemic Inflammation
Duodenal ulcer, Crohn's disease, Skin rash, Splenomegaly, Bowel irritability, Anorexia, Intractab... OMIM:619381
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 5
Intestinal malrotation, Hepatic failure, Portal hypertension, Microcolon OMIM:619431
Anophthalmia Plus Syndrome
Anophthalmia ORPHA:1104
Microphthalmia, Syndromic 5
Optic nerve hypoplasia, Microphthalmia, Anophthalmia OMIM:610125
Fanconi Anemia, Complementation Group J
Microphthalmia OMIM:609054
Chylomicron Retention Disease
Abdominal distention, Steatorrhea, Diarrhea, Vomiting, Failure to thrive, Hepatic steatosis, Fat ... ORPHA:71
Bile Acid Synthesis Defect, Congenital, 4
Hepatomegaly, Intrahepatic cholestasis, Giant cell hepatitis, Failure to thrive, Prolonged neonat... OMIM:214950
Dihydropyrimidine Dehydrogenase Deficiency
Microphthalmia OMIM:274270
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia
Skin rash, Bloody diarrhea, Inflammation of the large intestine, Failure to thrive, Recurrent pne... OMIM:617718
Matthew-Wood Syndrome
Microphthalmia, Abnormal spleen morphology, Anophthalmia ORPHA:2470
Congenital Bile Acid Synthesis Defect Type 3
Cirrhosis, Jaundice, Cholestasis, Bile duct proliferation, Hepatosplenomegaly, Fat malabsorption,... ORPHA:79302
Cortical Dysplasia, Complex, With Other Brain Malformations 6
Microphthalmia OMIM:615771
Biemond Syndrome Type 2
Microphthalmia ORPHA:141333
Tremor-Nystagmus-Duodenal Ulcer Syndrome
Duodenal ulcer ORPHA:3350
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Hepatomegaly, Chronic diarrhea, Abdominal pain, Cholestasis, Lymphadenitis, Eczematoid dermatitis... OMIM:615895
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis
Microphthalmia OMIM:610023
Microphthalmia, Syndromic 13
Microphthalmia OMIM:300915
Duodenal Ulcer Due To Antral G-Cell Hyperfunction
Duodenal ulcer OMIM:126840
Trisomy 13
Microphthalmia, Aplasia/Hypoplasia of the iris, Anophthalmia ORPHA:3378
Netherton Syndrome
Chronic rhinitis, Eczematoid dermatitis, Failure to thrive, Recurrent infection of the gastrointe... OMIM:256500
Microphthalmia With Brain And Digit Anomalies
Microphthalmia, Anophthalmia ORPHA:139471
Craniotelencephalic Dysplasia
Microphthalmia, Septo-optic dysplasia ORPHA:1528
Immunodeficiency 85 And Autoimmunity
Tube feeding, Chronic diarrhea, Eczematoid dermatitis, Vomiting, Erythroderma, Failure to thrive ... OMIM:619510
Cryptophthalmos, Unilateral Or Bilateral, Isolated
Microphthalmia OMIM:123570
Solitary Median Maxillary Central Incisor
Microphthalmia, Anophthalmia OMIM:147250
Sepsis In Premature Infants
Decreased liver function, Abdominal distention, Jaundice, Hepatomegaly, Functional abnormality of... ORPHA:90051
Duodenal Ulcer, Hyperpepsinogenemic I
Duodenal ulcer OMIM:126850
Syndromic Diarrhea
Cirrhosis, Hepatomegaly, Gastritis, Intractable diarrhea, Colitis, Bloody diarrhea, Hypoplasia of... ORPHA:84064
Hydrolethalus
Microphthalmia, Anophthalmia ORPHA:2189
Scedosporiosis
Abnormal jejunum morphology, Sinusitis, Pericarditis, Arthralgia/arthritis, Septic arthritis, Pne... ORPHA:449280
Macrocephaly-Intellectual Disability-Autism Syndrome
Lymphoid nodular hyperplasia, Hepatic steatosis, Intestinal polyposis ORPHA:210548
Abetalipoproteinemia
Fat malabsorption OMIM:200100
Juvenile Polyposis Syndrome
Neoplasm of the stomach, Rectal prolapse, Diarrhea, Abdominal pain, Failure to thrive, Colon canc... OMIM:174900
X-Linked Cerebral-Cerebellar-Coloboma Syndrome
Meckel diverticulum, Poor suck, Dysphagia, Feeding difficulties, Nasogastric tube feeding ORPHA:163961
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy
Perianal abscess, Anoperineal fistula, Pancolitis, Bloody diarrhea, Eosinophilic infiltration of ... OMIM:618213
Primary Sclerosing Cholangitis
Adenocarcinoma of the large intestine, Cholestasis, Acute hepatic failure, Splenomegaly, Jaundice... ORPHA:171
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome
Cholestatic liver disease, Cirrhosis, Sclerosing cholangitis, Interlobular bile duct destruction,... ORPHA:562639
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome
Abdominal distention, Abnormality of the gastrointestinal tract, Microcolon, Intestinal malrotati... ORPHA:2241
Microphthalmia, Syndromic 11
Microphthalmia OMIM:614402
Microphthalmia, Isolated 5
Microphthalmia OMIM:611040
Immunodeficiency 31C
Chronic oral candidiasis, Protein-losing enteropathy, Hepatomegaly, Diarrhea, Chronic mucocutaneo... OMIM:614162
Cerebrooculonasal Syndrome
Anophthalmia ORPHA:66625
Sandifer Syndrome
Hematemesis, Episodic vomiting, Gastroesophageal reflux, Esophagitis, Feeding difficulties, Hiatu... ORPHA:71272
Reactive Arthritis
Recurrent aphthous stomatitis, Diarrhea, Abdominal pain, Arthritis, Inflammation of the large int... ORPHA:29207
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Microphthalmia, Anophthalmia ORPHA:77298
2Q24 Microdeletion Syndrome
Microphthalmia ORPHA:1617
Thymoma
Myositis, Rheumatoid arthritis, Weight loss, Neoplasm of the gastrointestinal tract, Ulcerative c... ORPHA:99867
Xk Aprosencephaly Syndrome
Microphthalmia ORPHA:3469
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2
Microphthalmia OMIM:616171
Microphthalmia-Microtia-Fetal Akinesia Syndrome
Duodenal stenosis ORPHA:2547
Immunodeficiency 32B
Anemia, Monocytopenia, Neutrophilia, Thrombocytopenia, Splenomegaly, Eosinophilia, Impaired oxida... OMIM:226990
Heterotaxy, Visceral, 11, Autosomal, With Male Infertility
Chronic otitis media, Polysplenia, Intestinal malrotation, Chronic sinusitis, Duodenal atresia OMIM:619608
Braddock-Carey Syndrome 2
Microphthalmia, Thrombocytopenia OMIM:619981
Umbilical Cord Ulceration-Intestinal Atresia Syndrome
Intestinal atresia, Duodenal atresia ORPHA:3405
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Diarrhea, Thyroiditis, Chronic mucocutaneous candidiasis, Abnormal intestine morphology, Eczemato... ORPHA:391487
Osteootohepatoenteric Syndrome
Increased intestinal transit time, Portal fibrosis, Episodic vomiting, Microvesicular hepatic ste... OMIM:619377
Manitoba Oculotrichoanal Syndrome
Microphthalmia, Anophthalmia OMIM:248450
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome
Microphthalmia ORPHA:324416
Osteopetrosis, Autosomal Recessive 8
Splenomegaly, Thrombocytopenia, Anemia, Unilateral microphthalmos OMIM:615085
Gastrointestinal Defects And Immunodeficiency Syndrome 2
Rectovaginal fistula, Inflammation of the large intestine, Dysphagia, Bronchiectasis, Intestinal ... OMIM:619708
Kindler Epidermolysis Bullosa
Cheilitis, Periodontitis, Esophagitis, Inflammation of the large intestine, Conjunctivitis, Dysph... ORPHA:2908
Congenital Toxoplasmosis
Thrombocytopenia, Microphthalmia, Anemia ORPHA:858
Cofs Syndrome
Microphthalmia ORPHA:1466
Juvenile Polyposis Of Infancy
Gastrointestinal hemorrhage, Rectal prolapse, Protein-losing enteropathy, Melena, High, narrow pa... ORPHA:79076
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Hepatomegaly, Diarrhea, Crohn's disease, Arthritis, Eczematoid dermatitis, Splenomegaly, Atrophic... OMIM:616100
Pancreatic Agenesis 2
Steatorrhea, Pancreatic hypoplasia, Pancreatic aplasia, Exocrine pancreatic insufficiency, Small ... OMIM:615935
Systemic Sclerosis
Myocarditis, Abnormality of the gastrointestinal tract, Gastroesophageal reflux, Gastroparesis, A... ORPHA:90291
Glycogen Storage Disease Ib
Hepatomegaly, Pancreatitis, Hepatocellular carcinoma, Inflammation of the large intestine, Spleno... OMIM:232220
Congenital Factor Xiii Deficiency
Inflammation of the large intestine, Hepatic failure ORPHA:331
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Chronic diarrhea, Arthritis, Hepatitis, Eczematoid dermatitis, Failure to thrive, Erythroderma, G... OMIM:304790
Immunodeficiency 113 With Autoimmunity And Autoinflammation
Autoimmune hemolytic anemia, Leukocytosis, Neutrophilia, Splenomegaly, Autoimmune thrombocytopeni... OMIM:620565
Blue Rubber Bleb Nevus
Rectal prolapse, Volvulus, Intestinal bleeding, Abnormality of the liver, Intussusception OMIM:112200
Serkal Syndrome
Malrotation of small bowel ORPHA:139466
Congenital Alveolar Capillary Dysplasia
Annular pancreas, Aganglionic megacolon, Anal atresia, Tracheoesophageal fistula, Intestinal malr... ORPHA:210122
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Perianal abscess, Anemia, Erythroid hypoplasia, Hypoplasia of the thymus, Leukopenia, Splenomegal... OMIM:612541
Congenital Bile Acid Synthesis Defect Type 2
Steatorrhea, Jaundice, Giant cell hepatitis, Hepatomegaly, Cholestasis, Failure to thrive, Prolon... ORPHA:79303
Microphthalmia With Limb Anomalies
Microphthalmia, Anophthalmia OMIM:206920
Oculoskeletodental Syndrome
Protein-losing enteropathy, Hepatomegaly, Cryptorchidism, Splenomegaly, Macroglossia, Small for g... OMIM:618440
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 3
Abdominal distention, Microcolon OMIM:619362
Plague
Hematemesis, Carbuncle, Inflammatory abnormality of the eye, Acute infectious pneumonia, Skin ras... ORPHA:707
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Pancytopenia, B lymphocytopenia, T lymphocytopenia, Leukopenia, Hepatosplenomegaly, Lymphopenia, ... OMIM:618986
Cat-Eye Syndrome
Microphthalmia ORPHA:195
Autoimmune Polyendocrinopathy Type 2
Celiac disease, Hashimoto thyroiditis, Hypoparathyroidism ORPHA:3143
Infection-Related Hemolytic Uremic Syndrome
Myocarditis, Gastrointestinal infarctions, Pancreatitis, Acute colitis, Abdominal pain, Diarrhea,... ORPHA:544482
Congenital Disorder Of Glycosylation, Type Id
Diarrhea, High palate, Vomiting, Failure to thrive, Bifid uvula, Villous atrophy OMIM:601110
Arrhinia-Choanal Atresia-Microphthalmia Syndrome
Microphthalmia ORPHA:1135
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Hepatocellular adenoma, Hepatomegaly, Pancreatitis, Increased hepatic glycogen content, Periodont... ORPHA:79259
Idiopathic Hypereosinophilic Syndrome
Abdominal distention, Portal fibrosis, Cholangitis, Pancreatitis, Chronic diarrhea, Abdominal pai... ORPHA:3260
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Microphthalmia, Leukemia OMIM:602501
3-Phosphoserine Phosphatase Deficiency, Infantile/Juvenile Form
Esophagitis, Gastroesophageal reflux, Feeding difficulties ORPHA:79350
Cockayne Syndrome Type 2
Anophthalmia ORPHA:90322
Sweet Syndrome
Panniculitis, Myositis, Predominantly dermal neutrophilic infiltrate, Inflammation of the large i... ORPHA:3243
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Microphthalmia ORPHA:1473
Microphthalmia, Syndromic 8
Microphthalmia OMIM:601349
Trichothiodystrophy 3, Photosensitive
Meckel diverticulum, Bilateral cryptorchidism, Pyloric stenosis, Failure to thrive, Feeding diffi... OMIM:616395
Autoinflammatory Disease, Systemic, With Vasculitis
Jaundice, Hepatomegaly, Congenital hydrocele, Abdominal pain, Parotitis, Diarrhea, Cholestasis, A... OMIM:620376
Walker-Warburg Syndrome
Microphthalmia, Anophthalmia ORPHA:899
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1
Microphthalmia OMIM:251270
Triokinase And Fmn Cyclase Deficiency Syndrome
Microphthalmia, Microcytic anemia OMIM:618805
Pericardial And Diaphragmatic Defect
Meckel diverticulum, Intestinal malrotation, Abnormal gastrointestinal tract morphology ORPHA:2847
Polycystic Kidney Disease 1 With Or Without Polycystic Liver Disease
Hepatic cysts, Colonic diverticula OMIM:173900
Hereditary Hyperekplexia
Gastroesophageal reflux, Esophagitis, Hiatus hernia ORPHA:3197
Isolated Biliary Atresia
Decreased liver function, Cirrhosis, Severe failure to thrive, Jaundice, Hepatomegaly, Periportal... ORPHA:30391
Mirror Polydactyly-Vertebral Segmentation-Limbs Defects Syndrome
Duodenal atresia, Aplasia of the thymus ORPHA:3004
Congenital Rubella Syndrome
Microphthalmia, Anemia, Thrombocytopenia, Splenomegaly, Aplasia/Hypoplasia of the iris ORPHA:290
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome
Microphthalmia OMIM:601794
Anterior Segment Dysgenesis 5
Rieger anomaly, Microphthalmia, Hypoplasia of the fovea, Hypoplasia of the iris OMIM:604229
Pierpont Syndrome
Microphthalmia ORPHA:487825
Immunodeficiency 87 And Autoimmunity
Jaundice, Hepatomegaly, Necrotizing enterocolitis, Cholestasis, Hepatic failure, Cleft palate, Se... OMIM:619573
Parenteral Nutrition-Associated Cholestasis
Cirrhosis, Jaundice, Hepatomegaly, Cholelithiasis, Abdominal pain, Portal hypertension, Biliary h... ORPHA:567983
Trisomy 1Q
Anophthalmia ORPHA:261344
Muir-Torre Syndrome
Adenoma sebaceum, Ovarian neoplasm, Colon cancer, Colonic diverticula, Benign gastrointestinal tr... OMIM:158320
Deafness, X-Linked 7
Unilateral microphthalmos OMIM:301018
Cocaine Intoxication
Gastrointestinal infarctions, Abdominal pain, Intestinal perforation, Bloody diarrhea, Vomiting, ... ORPHA:90068
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome
Microphthalmia ORPHA:363741
Primary Intestinal Lymphangiectasia
Peritoneal effusion, Intestinal lymphangiectasia, Functional abnormality of the gastrointestinal ... ORPHA:90362
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11
Optic nerve hypoplasia, Microphthalmia OMIM:615181
Dextrocardia
Meckel diverticulum, Pancreatic hypoplasia, Intestinal malrotation, Abnormality of abdominal situ... ORPHA:1666
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1
Microphthalmia OMIM:613155
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections
Duodenal ulcer, Skin rash, Dysphagia, Early satiety, Recurrent cutaneous abscess formation, Gastr... OMIM:147060
Warburg Micro Syndrome 1
Microphthalmia OMIM:600118
Whim Syndrome
Severe periodontitis, Parotitis, Lymphadenitis, Bronchiectasis, Sinusitis, Recurrent pneumonia, O... ORPHA:51636
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Abdominal distention, Protein-losing enteropathy, Hepatomegaly, Pancreatic lymphangiectasis, High... OMIM:235255
Pierpont Syndrome
Microphthalmia OMIM:602342
Fumarase Deficiency
Intrahepatic cholestasis, Necrotizing enterocolitis, High palate, Failure to thrive, Mitochondria... OMIM:606812
Zollinger-Ellison Syndrome
Duodenal ulcer, Gastrointestinal hemorrhage, Intestinal obstruction, Pituitary growth hormone cel... ORPHA:913
Acrocephalopolydactylous Dysplasia
Hepatomegaly, Hypoplasia of the small intestine, Hypoplastic colon, Hepatic fibrosis, Pancreatic ... OMIM:200995
Juvenile Polyposis Syndrome
Gastrointestinal hemorrhage, Neoplasm of the pancreas, Hamartomatous stomach polyps, Rectal polyp... ORPHA:2929
Multiple Endocrine Neoplasia, Type I
Peptic ulcer, Adenoma sebaceum, Diarrhea, Pancreatic islet cell adenoma, Esophagitis, Pituitary p... OMIM:131100
Temtamy Syndrome
Microphthalmia ORPHA:1777
Joubert Syndrome 22
Microphthalmia OMIM:615665
Gist-Plus Syndrome
Intussusception, Intestinal polyposis, Gastrointestinal stroma tumor OMIM:175510
Congenital Primary Aphakia
Microphthalmia, Aniridia, Aplasia/Hypoplasia affecting the anterior segment of the eye, Congenita... ORPHA:83461
Metachromatic Leukodystrophy
Neoplasm of the gallbladder, Hemobilia, Bowel incontinence, Abnormal duodenum morphology, Feeding... ORPHA:512
Glycogen Storage Disease Ic
Hepatomegaly, Chronic pancreatitis, Stomatitis, Hepatocellular carcinoma, Inflammation of the lar... OMIM:232240
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome
Microphthalmia ORPHA:231736
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome
Microphthalmia, Anophthalmia OMIM:615877
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts
Microphthalmia OMIM:613730
Cat Eye Syndrome
Rectal fistula, Anal stenosis, Biliary atresia, Meckel diverticulum, Anal atresia, Intestinal mal... OMIM:115470
Lissencephaly 8
Microphthalmia OMIM:617255
Developmental Delay With Variable Neurologic And Brain Abnormalities
Microphthalmia OMIM:619694
Hartsfield Syndrome
Microphthalmia ORPHA:2117
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Microphthalmia ORPHA:48431
Intussusception
Intussusception OMIM:147710
Immunodeficiency 92
Hepatomegaly, Cholangitis, Sclerosing cholangitis, Chronic diarrhea, Esophagitis, Pneumonia, Oste... OMIM:619652
Oculogastrointestinal Neurodevelopmental Syndrome
Bilateral microphthalmos, Unilateral microphthalmos OMIM:619318
Cornea Plana 2, Autosomal Recessive
Microphthalmia OMIM:217300
Frontonasal Dysplasia 3
Microphthalmia OMIM:613456
Microphthalmia, Syndromic 9
Multilobulated spleen, Bilateral microphthalmos, Hypoplastic spleen, Anophthalmia OMIM:601186
Developmental And Epileptic Encephalopathy 1
Microphthalmia OMIM:308350
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Abdominal distention, Protein-losing enteropathy, Hepatomegaly, Pancreatic lymphangiectasis, High... ORPHA:1655
Autosomal Dominant Keratitis
Bilateral microphthalmos, Aniridia, Hypoplastic iris stroma, Hypoplasia of the fovea, Macular hyp... ORPHA:2334
Linear Skin Defects With Multiple Congenital Anomalies 2
Microphthalmia OMIM:300887
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2
Ileal atresia, Abdominal distention, Microcolon, Peritonitis, Pyelonephritis OMIM:619351
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Microphthalmia ORPHA:93267
Autoimmune Lymphoproliferative Syndrome
Hepatomegaly, Gastritis, Recurrent aphthous stomatitis, Panniculitis, Neoplasm of the tongue, Thy... ORPHA:3261
Cockayne Syndrome Type 1
Anemia, Anophthalmia ORPHA:90321
17Q12 Microduplication Syndrome
Microphthalmia ORPHA:261272
Tracheobronchopathia Osteochondroplastica
Pneumonia, Recurrent pneumonia, Esophagitis ORPHA:3348
Sarcoidosis, Susceptibility To, 1
Anorexia, Enlarged lacrimal glands, Abnormal salivary gland morphology, Hepatomegaly, Arthritis, ... OMIM:181000
Baraitser-Winter Syndrome 2
Microphthalmia OMIM:614583
Combined Immunodeficiency-Enteropathy Spectrum
Abdominal distention, Gastrointestinal atresia, Rectal abscess, Peritoneal abscess, Bloody diarrh... ORPHA:436252
Cystic Fibrosis
Steatorrhea, Rectal prolapse, Pancreatitis, Cirrhosis, Hepatomegaly, Diarrhea, Meconium ileus, Bi... OMIM:219700
Esophageal Atresia
Anorectal anomaly, Gastroesophageal reflux, Abnormal gastrointestinal tract morphology, Barrett e... ORPHA:1199
Anterior Segment Dysgenesis 2
Microphthalmia, Anterior segment of eye aplasia, Congenital aphakia, Aniridia OMIM:610256
Microgastria-Limb Reduction Defect Syndrome
Hepatomegaly, Esophageal atresia, Rectovaginal fistula, Gastroesophageal reflux, Microgastria, Pe... ORPHA:2538
Microphthalmia-Brain Atrophy Syndrome
Bilateral microphthalmos ORPHA:77299
Congenital Disorder Of Glycosylation, Type Il
Failure to thrive, Hepatomegaly, Splenomegaly, Villous atrophy OMIM:608776
Anterior Segment Dysgenesis 7
Buphthalmos, Microphthalmia OMIM:269400
Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease
Hepatomegaly, Aganglionic megacolon, Abdominal pain, Microcolon, Constipation, Splenomegaly, Ileus ORPHA:163746
Microphthalmia, Syndromic 3
Optic nerve hypoplasia, Microphthalmia, Optic nerve aplasia, Anophthalmia OMIM:206900
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Chronic oral candidiasis, Chronic diarrhea, Thyroiditis, Eczematoid dermatitis, Hepatosplenomegal... OMIM:606367
Vacterl With Hydrocephalus
Microphthalmia, Anophthalmia ORPHA:3412
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome
Microphthalmia, Anophthalmia ORPHA:2250
Wiskott-Aldrich Syndrome
Hematemesis, Chronic otitis media, Chronic diarrhea, Arthritis, Hypoplasia of the thymus, Eczemat... ORPHA:906
Fibular Hemimelia
Thrombocytopenia, Anophthalmia ORPHA:93323
Autosomal Recessive Polycystic Kidney Disease
Gastrointestinal hemorrhage, Cholestasis, Biliary hyperplasia, Splenomegaly, Abnormal intrahepati... ORPHA:731
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy
Buphthalmos, Microphthalmia OMIM:212550
Diarrhea 10, Protein-Losing Enteropathy Type
Protein-losing enteropathy, Hematochezia, Feeding difficulties, Secretory diarrhea, Cryptorchidism OMIM:618183
Oculopalatocerebral Syndrome
Microphthalmia OMIM:257910
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Microphthalmia OMIM:613153
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome
Aniridia, Anophthalmia ORPHA:1101
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures
Optic nerve hypoplasia, Microphthalmia OMIM:614833
Osteoporosis-Pseudoglioma Syndrome
Microphthalmia ORPHA:2788
Congenital Disorder Of Glycosylation, Type Iq
Microphthalmia, Microcytic anemia OMIM:612379
Seckel Syndrome 2
Microphthalmia OMIM:606744
Nance-Horan Syndrome
Microphthalmia ORPHA:627
Pearson Marrow-Pancreas Syndrome
Anorexia, Steatorrhea, Hepatomegaly, Chronic diarrhea, Punctate keratitis, Hepatic failure, Vomit... OMIM:557000
Wiskott-Aldrich Syndrome
Hematemesis, Recurrent otitis media, Melena, Diarrhea, Chronic diarrhea, Eczematoid dermatitis, I... OMIM:301000
Gracile Bone Dysplasia
Microphthalmia, Hypoplastic spleen, Aniridia, Asplenia OMIM:602361
Adenocarcinoma Of The Anal Canal
Rectal prolapse, Anal stenosis, Neoplasm of the rectum, Abdominal pain, Anal canal adenocarcinoma... ORPHA:424016
Frontometaphyseal Dysplasia 2
Gastroesophageal reflux, High palate, Pyloric stenosis, Bifid uvula, Cleft palate, Cryptorchidism... OMIM:617137
Meckel Syndrome, Type 5
Microphthalmia OMIM:611561
Frontonasal Dysplasia 1
Microphthalmia OMIM:136760
Fanconi Anemia, Complementation Group R
Microphthalmia, Anemia OMIM:617244
Spondylo-Ocular Syndrome
Microphthalmia, Aplasia/Hypoplasia of the lens ORPHA:85194
Tarp Syndrome
Meckel diverticulum, High palate, Glossoptosis, Failure to thrive, Cleft palate, Tongue nodules, ... OMIM:311900
Ring Chromosome 10 Syndrome
Microphthalmia ORPHA:1438
Neurooculocardiogenitourinary Syndrome
Microphthalmia OMIM:618652
Rodrigues Blindness
Microphthalmia OMIM:268320
Cerebrooculofacioskeletal Syndrome 2
Microphthalmia OMIM:610756
Fanconi Anemia, Complementation Group S
Microphthalmia, Anemia OMIM:617883
Bartsocas-Papas Syndrome 2
Microphthalmia OMIM:619339
Fg Syndrome Type 1
Small pituitary gland, Gastroesophageal reflux, High palate, Anal atresia, Abnormal large intesti... ORPHA:93932
Bresek Syndrome
Optic nerve hypoplasia, Microphthalmia ORPHA:85284
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Narrow palate, Rectal prolapse, Protein-losing enteropathy, Intestinal lymphangiectasia, Erysipel... OMIM:235510
Holoprosencephaly
Microphthalmia, Abnormality of the spleen, Anophthalmia ORPHA:2162
Subaortic Stenosis-Short Stature Syndrome
Microphthalmia ORPHA:3191
Mitochondrial Complex Iv Deficiency, Nuclear Type 10
Microphthalmia OMIM:619053
Nasopalpebral Lipoma-Coloboma Syndrome
Microphthalmia OMIM:167730
Cerebrooculofacioskeletal Syndrome 1
Microphthalmia OMIM:214150
Chronic Thromboembolic Pulmonary Hypertension
Inflammation of the large intestine, Obesity, Osteomyelitis ORPHA:70591
Meckel Syndrome
Microphthalmia, Accessory spleen, Anophthalmia, Asplenia, Aplasia/Hypoplasia of the iris ORPHA:564
Cerebrooculonasal Syndrome
Optic nerve hypoplasia, Anophthalmia OMIM:605627
Microcephaly-Lymphedema-Chorioretinopathy Syndrome
Microphthalmia, Leukemia, Anophthalmia ORPHA:2526
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12
Microphthalmia, Abnormally large globe OMIM:615249
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia
Microphthalmia OMIM:300863
Fanconi Anemia, Complementation Group I
Optic nerve hypoplasia, Microphthalmia, Neutropenia OMIM:609053
Adams-Oliver Syndrome 2
Microphthalmia OMIM:614219
Growth Delay-Intellectual Disability-Hepatopathy Syndrome
Cholestasis, Esophagitis, Hepatosplenomegaly, Feeding difficulties, Hepatic fibrosis, Hepatic ste... ORPHA:541423
Chromosome 17Q12 Duplication Syndrome
Microphthalmia OMIM:614526
Fanconi Anemia, Complementation Group E
Microphthalmia, Anemia, Pancytopenia, Reticulocytopenia, Thrombocytopenia, Leukemia, Neutropenia OMIM:600901
Pelvis-Shoulder Dysplasia
Microphthalmia OMIM:169550
Congenital Tracheal Stenosis
Meckel diverticulum, Abnormal gastrointestinal tract morphology, Anal atresia, Tracheoesophageal ... ORPHA:141127
Joubert Syndrome 37
Microphthalmia OMIM:619185
Multiple Endocrine Neoplasia Type 4
Peptic ulcer, Parathyroid carcinoma, Testicular neoplasm, Diarrhea, Pituitary growth hormone cell... ORPHA:276152
14Q22Q23 Microdeletion Syndrome
Optic nerve aplasia, Anophthalmia ORPHA:264200
Congenital Fibrinogen Deficiency
Splenic rupture, Microphthalmia ORPHA:335
Joubert Syndrome 21
Splenomegaly, Anophthalmia OMIM:615636
Bardet-Biedl Syndrome
Childhood-onset truncal obesity, Aganglionic megacolon, Abnormality of the gastrointestinal tract... ORPHA:110
Methylmalonate Semialdehyde Dehydrogenase Deficiency
Microphthalmia OMIM:614105
Temtamy Syndrome
Microphthalmia OMIM:218340
Microphthalmia/Coloboma 12
Microphthalmia, Optic nerve aplasia OMIM:120200
Neurodevelopmental, Jaw, Eye, And Digital Syndrome
Microphthalmia, Lens coloboma OMIM:618914
Heart Defects, Congenital, And Other Congenital Anomalies
Biliary atresia, Pancreatic hypoplasia, Microcolon, Intestinal malrotation, Failure to thrive, Ab... OMIM:600001
Exudative Vitreoretinopathy 2, X-Linked
Microphthalmia OMIM:305390
Monosomy 18P
Microphthalmia ORPHA:1598
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development
Microphthalmia OMIM:152950
Fanconi Anemia, Complementation Group A
Microphthalmia, Anemia, Pancytopenia, Reticulocytopenia, Thrombocytopenia, Leukemia, Neutropenia OMIM:227650
Mosaic Trisomy 16
Abnormality of the gastrointestinal tract, Meckel diverticulum, Nasogastric tube feeding in infan... ORPHA:1708
Sandestig-Stefanova Syndrome
Microphthalmia OMIM:618804
Pgm3-Cdg
Chronic otitis media, Gastroesophageal reflux, Lactose intolerance, High palate, Esophagitis, Ato... ORPHA:443811
Myoclonic-Astatic Epilepsy
Microphthalmia ORPHA:1942
Tarp Syndrome
Glossoptosis, Cryptorchidism, Failure to thrive, Cleft palate, Abnormal duodenum morphology, Tong... ORPHA:2886
Turner Syndrome Due To Structural X Chromosome Anomalies
Gastrointestinal inflammation, Cholestatic liver disease, High, narrow palate, Cirrhosis, Recurre... ORPHA:99413
Turner Syndrome
Gastrointestinal inflammation, Cholestatic liver disease, High, narrow palate, Cirrhosis, Recurre... ORPHA:881
Mosaic Monosomy X
Gastrointestinal inflammation, Cholestatic liver disease, High, narrow palate, Cirrhosis, Recurre... ORPHA:99228
Monosomy X
Gastrointestinal inflammation, Cholestatic liver disease, High, narrow palate, Cirrhosis, Recurre... ORPHA:99226
Stevenson-Carey Syndrome
Microphthalmia OMIM:611961
Maternal Uniparental Disomy Of Chromosome 4
Diarrhea, Decreased body weight, Fat malabsorption, Malnutrition ORPHA:96180
Congenital Muscular Dystrophy With Cerebellar Involvement
Optic nerve hypoplasia, Microphthalmia ORPHA:370959
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome
Microphthalmia ORPHA:163649
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies
Microphthalmia OMIM:618494
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies
Optic nerve hypoplasia, Bilateral microphthalmos OMIM:607597
Microcephaly 20, Primary, Autosomal Recessive
Optic nerve hypoplasia, Microphthalmia OMIM:617914
Curry-Jones Syndrome
Microphthalmia ORPHA:1553
Moebius Syndrome
Microphthalmia OMIM:157900
Otodental Syndrome
Microphthalmia, Lens coloboma ORPHA:2791
Meckel Syndrome, Type 2
Microphthalmia OMIM:603194
Baraitser-Winter Syndrome 1
Microphthalmia OMIM:243310
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome
Microphthalmia ORPHA:228390
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type
Microphthalmia ORPHA:163966
Musculocontractural Ehlers-Danlos Syndrome
High palate, Constipation, Cleft palate, Abnormal mesentery morphology, Malrotation of small bowe... ORPHA:2953
Refsum Disease
Microphthalmia, Splenomegaly ORPHA:773
Congenital Disorder Of Glycosylation, Type Ia
Steatorrhea, Hepatomegaly, Diarrhea, Vomiting, Failure to thrive, Pericarditis, Hepatic fibrosis,... OMIM:212065
Rere-Related Neurodevelopmental Syndrome
Microphthalmia ORPHA:494344
Vitreoretinochoroidopathy
Microphthalmia OMIM:193220
Fryns Syndrome
Large for gestational age, Aganglionic megacolon, Esophageal atresia, Meckel diverticulum, Anal a... OMIM:229850
Dermatosparaxis Ehlers-Danlos Syndrome
Gastroesophageal reflux, Esophagitis, Hiatus hernia ORPHA:1901
Microphthalmia/Coloboma 9
Microphthalmia OMIM:615145
3-Phosphoglycerate Dehydrogenase Deficiency, Infantile/Juvenile Form
Gastroesophageal reflux, Esophagitis, Vomiting, Failure to thrive, Feeding difficulties ORPHA:79351
Norrie Disease
Buphthalmos, Microphthalmia, Hypoplasia of the iris OMIM:310600
Diamond-Blackfan Anemia 7
Cleft palate, Esophagitis, Recurrent otitis media OMIM:612562
Bannayan-Riley-Ruvalcaba Syndrome
Narrow palate, Intestinal polyposis, Cachexia, Hamartomatous polyposis, Abnormal large intestine ... ORPHA:109
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7
High, narrow palate, Decreased response to growth hormone stimulation test, Gastroesophageal refl... ORPHA:96182
Garg-Mishra Progeroid Syndrome
Microphthalmia OMIM:620601
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness
Microphthalmia OMIM:617306
Trichohepatoenteric Syndrome 1
Cirrhosis, Jaundice, Abnormality of the pancreas, Hepatomegaly, Intractable diarrhea, Cholestasis... OMIM:222470
Microphthalmia With Linear Skin Defects Syndrome
Microphthalmia, Anophthalmia ORPHA:2556
Frontofacionasal Dysplasia
Microphthalmia ORPHA:1791
Fanconi Anemia, Complementation Group C
Microphthalmia, Anemia, Pancytopenia, Reticulocytopenia, Thrombocytopenia, Leukemia, Neutropenia OMIM:227645
Nasopalpebral Lipoma-Coloboma Syndrome
Bilateral microphthalmos, Microphthalmia ORPHA:2399
Shwachman-Diamond Syndrome
Malnutrition, Steatorrhea, Abnormality of the gastrointestinal tract, Decreased response to growt... ORPHA:811
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency
Microphthalmia ORPHA:404440
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Annular pancreas, Esophageal atresia, Meckel diverticulum, Congenital shortened small intestine, ... OMIM:265380
Meier-Gorlin Syndrome 7
Meconium peritonitis, Anal stenosis, Breast aplasia, High palate, Decreased body weight, Anal atr... OMIM:617063
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9
Buphthalmos, Microphthalmia OMIM:616538
Meckel Syndrome, Type 4
Microphthalmia OMIM:611134
Warburg Micro Syndrome 4
Microphthalmia OMIM:615663
Pitt-Hopkins Syndrome
Aganglionic megacolon, Gastroesophageal reflux, Esophagitis, Constipation, Failure to thrive, Fee... ORPHA:2896
Liver Disease, Severe Congenital
Biliary hyperplasia, Splenomegaly, Hepatic steatosis, Jaundice, Intrahepatic cholestasis, Chronic... OMIM:619991
Adams-Oliver Syndrome
Thrombocytopenia, Microphthalmia, Leukopenia ORPHA:974
Fanconi Anemia, Complementation Group F
Thrombocytopenia, Microphthalmia, Leukopenia, Anemia OMIM:603467
Proboscis Lateralis
Optic nerve hypoplasia, Microphthalmia, Anophthalmia ORPHA:141099
Localized Scleroderma
Gastroesophageal reflux, Arthritis, Esophagitis, Hashimoto thyroiditis, Fasciitis, Uveitis ORPHA:90289
Kapur-Toriello Syndrome
Microphthalmia ORPHA:2328
Fetal Alcohol Syndrome
Microphthalmia ORPHA:1915
Heart And Brain Malformation Syndrome
Microphthalmia OMIM:616920
Microphthalmia, Syndromic 2
Phthisis bulbi, Microphthalmia, Anophthalmia OMIM:300166
Holoprosencephaly 9
Optic nerve hypoplasia, Microphthalmia, Anophthalmia OMIM:610829
Familial Exudative Vitreoretinopathy
Microphthalmia ORPHA:891
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency
Bilateral microphthalmos ORPHA:369891
Autosomal Recessive Cutis Laxa Type 1
Pyloric stenosis, Recurrent pneumonia, Small bowel diverticula, Pyelonephritis ORPHA:90349
Warburg Micro Syndrome 3
Microphthalmia OMIM:614222
Nance-Horan Syndrome
Microphthalmia OMIM:302350
Ectodermal Dysplasia-Blindness Syndrome
Microphthalmia ORPHA:1806
Fanconi Anemia, Complementation Group N
Aplastic anemia, Microphthalmia, Acute myeloid leukemia OMIM:610832
Fraser Syndrome 1
Bilateral microphthalmos, Anophthalmia OMIM:219000
3P25.3 Microdeletion Syndrome
Microphthalmia ORPHA:435638
Marden-Walker Syndrome
Microphthalmia OMIM:248700
Charge Syndrome
Microphthalmia, Anophthalmia ORPHA:138
Trichothiodystrophy 4, Nonphotosensitive
Microphthalmia OMIM:234050
Ehlers-Danlos Syndrome, Musculocontractural Type, 1
High palate, Intestinal malrotation, Constipation, Cleft palate, Abnormal duodenum morphology, Re... OMIM:601776
3Q29 Microduplication Syndrome
Microphthalmia, Aniridia ORPHA:251038
Ritscher-Schinzel Syndrome 3
Microphthalmia OMIM:619135
Joubert Syndrome 14
Microphthalmia OMIM:614424
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome
Microphthalmia ORPHA:1352
Developmental Delay With Variable Intellectual Disability And Dysmorphic Facies
Microphthalmia OMIM:620098
Multiple Benign Circumferential Skin Creases On Limbs
Microphthalmia ORPHA:2505
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Microphthalmia OMIM:241410
Persistent Hyperplastic Primary Vitreous
Phthisis bulbi, Microphthalmia, Buphthalmos, Macular hypoplasia ORPHA:91495
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type
Microphthalmia ORPHA:2728
Chromosome 1Q41-Q42 Deletion Syndrome
Microphthalmia OMIM:612530
Tetraamelia-Multiple Malformations Syndrome
Microphthalmia, Septo-optic dysplasia ORPHA:3301
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies
Microphthalmia OMIM:618571
Oculofaciocardiodental Syndrome
Microphthalmia ORPHA:2712
Abetalipoproteinemia
Steatorrhea, Cirrhosis, Hepatomegaly, Chronic diarrhea, Vomiting, Failure to thrive, Hepatic stea... ORPHA:14
Microphthalmia With Limb Anomalies
Microphthalmia, True anophthalmia ORPHA:1106
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Phthisis bulbi, Microphthalmia, Buphthalmos OMIM:221900
Focal Dermal Hypoplasia
Microphthalmia, Aniridia, Anophthalmia OMIM:305600
Encephalocraniocutaneous Lipomatosis
Microphthalmia, Hypoplasia of the iris OMIM:613001
Basel-Vanagaite-Smirin-Yosef Syndrome
Microphthalmia OMIM:616449
Trisomy 8P
Annular pancreas, Constipation, Bifid uvula, Cleft palate, Malrotation of small bowel, Cryptorchi... ORPHA:264450
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18
Hepatomegaly, Esophagitis, Feeding difficulties, Achalasia, Hepatic steatosis OMIM:615356
Cerebrooculofacioskeletal Syndrome 4
Bilateral microphthalmos OMIM:610758
Warburg Micro Syndrome 2
Microphthalmia OMIM:614225
Micro Syndrome
Microphthalmia ORPHA:2510
X-Linked Dominant Chondrodysplasia Punctata
Microphthalmia ORPHA:35173
Fanconi Anemia
Aganglionic megacolon, Aplasia/Hypoplasia of the uvula, Meckel diverticulum, Azoospermia, High pa... ORPHA:84
Fanconi Anemia, Complementation Group D2
Microphthalmia, Anemia, Pancytopenia, Reticulocytopenia, Thrombocytopenia, Leukemia, Neutropenia OMIM:227646
Cohen Syndrome
Microphthalmia, Neutropenia ORPHA:193
Martsolf Syndrome 1
Microphthalmia OMIM:212720
Charge Syndrome
Microphthalmia, Lymphopenia, Unilateral microphthalmos, Anophthalmia OMIM:214800
Incontinentia Pigmenti
Eosinophilia, Microphthalmia, Leukocytosis, Hypoplasia of the fovea OMIM:308300
Skin Creases, Congenital Symmetric Circumferential, 1
Microphthalmia OMIM:156610
Arterial Tortuosity Syndrome
Myocarditis, Gastroesophageal reflux, Esophagitis, Median cleft palate, Pyloric stenosis, Hiatus ... ORPHA:3342
Kapur-Toriello Syndrome
Microphthalmia OMIM:244300
Fraser Syndrome
Microphthalmia, Anophthalmia ORPHA:2052
Xeroderma Pigmentosum, Complementation Group B
Microphthalmia OMIM:610651
Stromme Syndrome
Optic nerve hypoplasia, Microphthalmia, Accessory spleen OMIM:243605
Xeroderma Pigmentosum, Complementation Group D
Microphthalmia OMIM:278730
Oculodentodigital Dysplasia, Autosomal Recessive
Microphthalmia OMIM:257850
Atelis Syndrome 2
Thrombocytopenia, Microphthalmia, Anemia OMIM:620185
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2
Buphthalmos, Microphthalmia OMIM:613150
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies
Microphthalmia OMIM:618727
Chromosome 13Q33-Q34 Deletion Syndrome
Microphthalmia OMIM:619148
Kenny-Caffey Syndrome, Type 2
Microphthalmia, Anemia OMIM:127000
Microcephaly-Micromelia Syndrome
Microphthalmia OMIM:251230
Frontorhiny
Microphthalmia ORPHA:391474
Mowat-Wilson Syndrome
Aganglionic megacolon, Cleft hard palate, Recurrent otitis media, Decreased body weight, Bowel in... ORPHA:2152
Microphthalmia, Lenz Type
Microphthalmia ORPHA:568
Phace Association
Optic nerve hypoplasia, Microphthalmia OMIM:606519
Trichothiodystrophy 1, Photosensitive
Microphthalmia OMIM:601675
Frontonasal Dysplasia 2
Microphthalmia OMIM:613451
Linear Skin Defects With Multiple Congenital Anomalies 3
Microphthalmia OMIM:300952
8Q21.11 Microdeletion Syndrome
Microphthalmia ORPHA:284160
Mosaic Trisomy 9
Microphthalmia, Asplenia ORPHA:99776
Chondrodysplasia Punctata 2, X-Linked Dominant
Microphthalmia OMIM:302960
3Q29 Microdeletion Syndrome
Microphthalmia ORPHA:65286
Oculoauricular Syndrome
Microphakia, Phthisis bulbi, Microphthalmia, Macular hypoplasia OMIM:612109
Isolated Arrhinia
Microphthalmia ORPHA:1134
Microphthalmia, Syndromic 6
Microphthalmia, Anophthalmia OMIM:607932
Chromosome 8Q21.11 Deletion Syndrome
Microphthalmia OMIM:614230
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Microphthalmia OMIM:253800
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome
Microphthalmia, Anemia, Accessory spleen, Severe B lymphocytopenia, Thrombocytopenia, Lymphopenia OMIM:620005
Joubert Syndrome 2
Microphthalmia OMIM:608091
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
Optic nerve hypoplasia, Microphthalmia OMIM:614643
Mosaic Trisomy 1
Microphthalmia ORPHA:1692
Galloway-Mowat Syndrome 3
Microphthalmia OMIM:617729
Dubowitz Syndrome
Aplastic anemia, Microphthalmia, Acute lymphoblastic leukemia, Hypoplasia of the iris OMIM:223370
Pseudotrisomy 13 Syndrome
Microphthalmia OMIM:264480
Blepharophimosis, Ptosis, And Epicanthus Inversus
Microphthalmia OMIM:110100
Duane-Radial Ray Syndrome
Microphthalmia, Optic disc hypoplasia OMIM:607323
Meckel Syndrome 14
Microphthalmia OMIM:619879
Pierson Syndrome
Microphthalmia, Hypoplasia of the ciliary body, Hypoplasia of the iris, Rieger anomaly, Macular h... OMIM:609049
Branchiooculofacial Syndrome
Microphthalmia, Anophthalmia OMIM:113620
Basel-Vanagaite-Smirin-Yosef Syndrome
Microphthalmia ORPHA:464738
Galloway-Mowat Syndrome 1
Microphthalmia, Hypoplasia of the iris OMIM:251300
Papillorenal Syndrome
Microphthalmia OMIM:120330
Incontinentia Pigmenti
Eosinophilia, Microphthalmia ORPHA:464
Jacobsen Syndrome
Microphthalmia, Thrombocytopenia, Macular hypoplasia OMIM:147791
Fryns Syndrome
Microphthalmia ORPHA:2059
Thrombocytopenia-Absent Radius Syndrome
Meckel diverticulum, Seborrheic dermatitis, Cleft palate, Hepatosplenomegaly, Pancreatic cysts OMIM:274000
Oculo-Palato-Cerebral Syndrome
Microphthalmia ORPHA:2714
Ohdo Syndrome, X-Linked
Microphthalmia OMIM:300895
Severe Microbrachycephaly-Intellectual Disability-Athetoid Cerebral Palsy Syndrome
Microphthalmia ORPHA:1236
Down Syndrome
Aganglionic megacolon, Anal atresia, Protruding tongue, Duodenal stenosis, Macroglossia OMIM:190685
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1
Optic nerve hypoplasia, Microphthalmia, Buphthalmos OMIM:236670
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb
Unilateral microphthalmos OMIM:618874
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome
Microphthalmia ORPHA:85167
Premature Aging Syndrome, Penttinen Type
Microphthalmia OMIM:601812
1Q21.1 Microdeletion Syndrome
Microphthalmia ORPHA:250989
Focal Dermal Hypoplasia
Microphthalmia, Hypoplasia of the iris ORPHA:2092
2Q31.1 Microdeletion Syndrome
Microphthalmia ORPHA:251014
Momo Syndrome
Bilateral microphthalmos ORPHA:2563
Lymphedema-Distichiasis Syndrome
Microphthalmia OMIM:153400
Occipital Horn Syndrome
High, narrow palate, Jaundice, Abnormal esophagus physiology, Gastroesophageal reflux, Gastropare... ORPHA:198
Curry-Jones Syndrome
Microphthalmia OMIM:601707
Fraser Syndrome 2
Microphthalmia, Hypoplasia of the thymus OMIM:617666
Pelvis-Shoulder Dysplasia
Bilateral microphthalmos ORPHA:2839
Fanconi Anemia, Complementation Group L
Microphthalmia, Anemia OMIM:614083
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome
Microphthalmia ORPHA:364577
Linear Nevus Sebaceus Syndrome
Microphthalmia ORPHA:2612
Autosomal Dominant Cutis Laxa
Vomiting, Small bowel diverticula, Feeding difficulties, Bronchiectasis, Pyelonephritis ORPHA:90348
Acrofrontofacionasal Dysostosis 1
Microphthalmia OMIM:201180
Viss Syndrome
Chronic diarrhea, Intestinal malrotation, Malposition of the stomach, Bifid uvula, Dysphagia, Chr... OMIM:619472
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy
Microphthalmia OMIM:608940
Teebi-Shaltout Syndrome
Microphthalmia OMIM:272950
Mycophenolate Mofetil Embryopathy
Microphthalmia ORPHA:268249
Hallermann-Streiff Syndrome
Microphthalmia OMIM:234100
Cousin Syndrome
Microphthalmia OMIM:260660
Restrictive Dermopathy
Submucous cleft hard palate, Aplasia/Hypoplastia of the eccrine sweat glands, Microcolon ORPHA:1662
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Microphthalmia OMIM:616300
Trisomy 18
Microphthalmia ORPHA:3380
Mosaic Variegated Aneuploidy Syndrome
Microphthalmia, Acute lymphoblastic leukemia ORPHA:1052
Steinfeld Syndrome
Microphthalmia OMIM:184705
Monosomy 9Q22.3
Microphthalmia ORPHA:77301
Trichothiodystrophy
Bilateral microphthalmos, Increased mean corpuscular hemoglobin concentration, Anemia, Neutropenia ORPHA:33364
Genitopatellar Syndrome
Anal stenosis, Anal atresia, Dysphagia, Feeding difficulties, Malrotation of small bowel, Cryptor... OMIM:606170
Wolf-Hirschhorn Syndrome
Gastroesophageal reflux, Accessory spleen, Failure to thrive, Biliary tract abnormality, Cleft pa... OMIM:194190
Acro-Renal-Ocular Syndrome
Microphthalmia, Optic disc hypoplasia ORPHA:959
Basal Cell Nevus Syndrome 1
Microphthalmia OMIM:109400
Pallister-Hall Syndrome
Microphthalmia OMIM:146510
Histiocytoid Cardiomyopathy
Microphthalmia, Congenital aphakia ORPHA:137675
Oculodentodigital Dysplasia
Microphthalmia OMIM:164200
Cockayne Syndrome B
Microphthalmia, Splenomegaly, Hypoplasia of the iris OMIM:133540
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Optic nerve hypoplasia, Microphthalmia ORPHA:508498
Hallermann-Streiff Syndrome
Microphthalmia ORPHA:2108
Treacher-Collins Syndrome
Microphthalmia, Hypoplasia of the thymus ORPHA:861
Rothmund-Thomson Syndrome, Type 2
Microphthalmia OMIM:268400
Phace Syndrome
Optic nerve hypoplasia, Microphthalmia, Lens coloboma ORPHA:42775
Holoprosencephaly-Postaxial Polydactyly Syndrome
Microphthalmia ORPHA:2166
Degcags Syndrome
Microphthalmia, Anemia, Iron deficiency anemia, Pancytopenia, Abnormal spleen morphology, Leukope... OMIM:619488
Traboulsi Syndrome
Microphthalmia OMIM:601552
Cockayne Syndrome Type 3
Microphthalmia, Splenomegaly ORPHA:90324
Simpson-Golabi-Behmel Syndrome, Type 1
Narrow palate, Hepatomegaly, Meckel diverticulum, Exaggerated median tongue furrow, Anal atresia,... OMIM:312870
Roberts Syndrome
Microphthalmia, Thrombocytopenia ORPHA:3103
Linear Skin Defects With Multiple Congenital Anomalies 1
Microphthalmia OMIM:309801
Oculocerebrorenal Syndrome Of Lowe
Thrombocytopenia, Buphthalmos, Microphthalmia, Anemia ORPHA:534
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Microphthalmia OMIM:617925
Aicardi Syndrome
Microphthalmia ORPHA:50
Osteoporosis-Pseudoglioma Syndrome
Phthisis bulbi, Microphthalmia OMIM:259770
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart
Microphthalmia OMIM:616975
Bartsocas-Papas Syndrome 1
Microphthalmia OMIM:263650
Craniofacial Microsomia 1
Microphthalmia, Anophthalmia OMIM:164210
Holoprosencephaly 7
Bilateral microphthalmos, Microphthalmia OMIM:610828
Mend Syndrome
Microphthalmia ORPHA:401973
Microphthalmia, Syndromic 1
Microphthalmia, Anophthalmia OMIM:309800
Bosma Arhinia Microphthalmia Syndrome
Microphthalmia OMIM:603457
Aicardi Syndrome
Microphthalmia OMIM:304050
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Microphthalmia OMIM:609945
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome
Microphthalmia ORPHA:3186
Monosomy 9P
Microphthalmia ORPHA:261112
22Q11.2 Deletion Syndrome
Thrombocytopenia, Microphthalmia, Hypoplasia of the thymus, Splenomegaly ORPHA:567
Tetraamelia Syndrome 1
Microphthalmia, Asplenia OMIM:273395
Meckel Syndrome, Type 1
Asplenia, Microphthalmia, Splenomegaly, Accessory spleen OMIM:249000
Frontofacionasal Dysplasia
Microphthalmia OMIM:229400
Monosomy 13Q14
Microphthalmia ORPHA:1587
Autosomal Dominant Kenny-Caffey Syndrome
Bilateral microphthalmos, Anemia ORPHA:93325
Cockayne Syndrome
Microphthalmia, Splenomegaly ORPHA:191
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome
Microphthalmia, Aplasia of the thymus OMIM:620186
Myhre Syndrome
Microphthalmia OMIM:139210
Skin Creases, Congenital Symmetric Circumferential, 2
Microphthalmia OMIM:616734
Robin Sequence With Distinctive Facial Appearance And Brachydactyly
Microphthalmia OMIM:608670
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency
Optic nerve hypoplasia, Bilateral microphthalmos ORPHA:468631
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3
Buphthalmos, Microphthalmia, Hypoplasia of the retina OMIM:253280
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome
Microphthalmia ORPHA:306542
Chromosome 13Q14 Deletion Syndrome
Microphthalmia OMIM:613884
Fontaine Progeroid Syndrome
Microphthalmia OMIM:612289
Yunis-Varon Syndrome
Bilateral microphthalmos, Microphthalmia ORPHA:3472
Renpenning Syndrome 1
Microphthalmia OMIM:309500
Adams-Oliver Syndrome 1
Microphthalmia OMIM:100300
Neuroocular Syndrome
Microphthalmia, Hypoplasia of the fovea, Lens coloboma OMIM:619539
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb
Microphthalmia OMIM:612474
Holoprosencephaly 1
Microphthalmia OMIM:236100
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies
Microphthalmia, Hemolytic anemia, Hypoplasia of the iris OMIM:175780
Hydrolethalus Syndrome 1
Microphthalmia, Accessory spleen OMIM:236680
Neu-Laxova Syndrome 1
Microphthalmia OMIM:256520
Lowe Oculocerebrorenal Syndrome
Microphthalmia OMIM:309000
Norrie Disease
Microphthalmia, Hypoplasia of the iris, Aplasia/Hypoplasia of the lens ORPHA:649
Treacher Collins Syndrome 1
Bilateral microphthalmos OMIM:154500
Witteveen-Kolk Syndrome
Microphthalmia OMIM:613406
Pallister-Hall Syndrome
Microphthalmia ORPHA:672
8Q24.3 Microdeletion Syndrome
Optic nerve hypoplasia, Bilateral microphthalmos ORPHA:508488
Holoprosencephaly 2
Microphthalmia OMIM:157170
Mowat-Wilson Syndrome
Microphthalmia OMIM:235730
Roberts-Sc Phocomelia Syndrome
Microphthalmia, Accessory spleen OMIM:268300
Townes-Brocks Syndrome
Microphthalmia ORPHA:857
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Microphthalmia, Asplenia ORPHA:261537
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Microphthalmia, Asplenia ORPHA:261552

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 Yipf6

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 Yipf6.

No publications found that use IMPC mice or data for Yipf6.

Order Mouse and ES Cells

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

MGI Allele Allele Type Produced
Yipf6tm2e(KOMP)Wtsi Targeted, non-conditional allele ES Cells
Yipf6tm1e(KOMP)Wtsi Targeted, non-conditional allele ES Cells
Yipf6tm88063(L1L2_Bact_P) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors
Yipf6em1(IMPC)Mbp Inter-exon deletion Mice, Tissue

The IMPC Newsletter

Get highlights of the most important data releases, news and events, delivered straight to your email inbox

Subscribe to newsletter