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Gene: Jag1 MGI:1095416

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Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

Name:
jagged 1
Synonyms:
ABE2,  Htu,  Serrate-1,  Headturner,  Gsfabe2,  Ozz

Order Alleles

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

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

lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

Phenotype associated images not available

Human diseases caused by Jag1 mutations

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

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

The table below shows human diseases associated to Jag1 by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Alagille Syndrome 1
Cholestasis, Axenfeld anomaly, Ventricular septal defect, Posterior embryotoxon, Cirrhosis, Atria... OMIM:118450
Deafness, Congenital Heart Defects, And Posterior Embryotoxon
Posterior embryotoxon OMIM:617992
Tetralogy Of Fallot
Tetralogy of Fallot, Intrauterine growth retardation ORPHA:3303
Charcot-Marie-Tooth Disease, Axonal, Type 2Hh
Impaired temperature sensation, Dysphagia, Impaired pain sensation, Impaired distal vibration sen... OMIM:619574
Tetralogy Of Fallot
Tetralogy of Fallot OMIM:187500

The table below shows human diseases predicted to be associated to Jag1 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Deafness, Autosomal Recessive 109
Congenital sensorineural hearing impairment, Absent vestibular function, Abnormal semicircular ca... OMIM:618013
Pupillary Membrane, Persistence Of
Persistent pupillary membrane, Developmental cataract, Megalocornea OMIM:178900
Asperger Syndrome, Susceptibility To, 1
Restrictive behavior, Motor stereotypy, Inflexible adherence to routines OMIM:608638
Asperger Syndrome, Susceptibility To, 2
Restrictive behavior, Motor stereotypy, Inflexible adherence to routines OMIM:608631
Corneal Dystrophy, Posterior Amorphous
Iris coloboma, Corneal dystrophy, Ectopia pupillae OMIM:612868
Anterior Segment Dysgenesis 8
Cataract, Ectopia lentis, Ectopia pupillae, Hypoplasia of the iris, Uveal ectropion, Corneal stro... OMIM:617319
Intellectual Developmental Disorder, Autosomal Dominant 50, With Behavioral Abnormalities
Attention deficit hyperactivity disorder, Motor stereotypy OMIM:617787
Anterior Segment Dysgenesis 3
Peters anomaly, Ectopia pupillae, Rieger anomaly, Abnormal iris vasculature, Axenfeld anomaly, Po... OMIM:601631
Cataract-Microcornea Syndrome
Cataract, Microcornea, Corneal opacity, Iris coloboma, Corneal dystrophy ORPHA:1377
Deafness, Autosomal Dominant 87
Incomplete partition of the cochlea type II, Enlarged vestibular aqueduct, Hearing impairment OMIM:620281
X-Linked Corneal Dermoid
Abnormal pupil morphology, Corneal opacity ORPHA:1661
Corneal Dystrophy, Posterior Polymorphous, 2
Corneal dystrophy, Corneal opacity OMIM:609140
Corneal Dystrophy, Endothelial, X-Linked
Band keratopathy, Corneal dystrophy, Corneal opacity OMIM:300779
Autism, Susceptibility To, X-Linked 3
Restrictive behavior, Motor stereotypy, Inflexible adherence to routines OMIM:300496
Autism, Susceptibility To, X-Linked 1
Restrictive behavior, Motor stereotypy, Inflexible adherence to routines OMIM:300425
Microphthalmia/Coloboma 7
Inferior chorioretinal coloboma, Iris coloboma OMIM:614497
Corneal Dystrophy, Posterior Polymorphous, 4
Ectopia pupillae OMIM:618031
Iris Pigment Epithelium Anomalies
Iris cyst OMIM:601616
Microphthalmia/Coloboma 3
Cataract, Iris coloboma OMIM:610092
Ectopia Pupillae
Ectopia pupillae OMIM:129750
Ectopia Lentis Et Pupillae
Cataract, Ectopia lentis, Ectopia pupillae, Iris transillumination defect, Persistent pupillary m... OMIM:225200
Corneal Dystrophy, Posterior Polymorphous, 3
Corneal guttata, Keratoconus, Corneal dystrophy, Ectopia pupillae OMIM:609141
Deafness, Autosomal Recessive 108
Iris coloboma OMIM:617654
Microphthalmia/Coloboma 10
Iris coloboma, Microcoria, Chorioretinal coloboma OMIM:616428
Loose Anagen Syndrome
Iris coloboma ORPHA:168
Corneal Dystrophy, Band-Shaped
Band-shaped corneal dystrophy OMIM:217500
Dermoids Of Cornea
Corneal opacity OMIM:304730
Corneal dystrophy, lisch epithelial
Corneal dystrophy OMIM:300778
Deafness, Autosomal Dominant 85
Cochlear nerve hypoplasia, Sensorineural hearing impairment OMIM:620227
Corneal Dystrophy, Posterior Polymorphous, 1
Band keratopathy, Abnormal corneal endothelium morphology, Ectopia pupillae, Thinning of Descemet... OMIM:122000
Cholestasis, Progressive Familial Intrahepatic, 10
Hypoalbuminemia, Elevated gamma-glutamyltransferase level, Portal fibrosis, Failure to thrive, In... OMIM:619868
Autism
Restrictive behavior, Motor stereotypy, Inflexible adherence to routines OMIM:209850
Autism, Susceptibility To, 8
Restrictive behavior, Motor stereotypy, Inflexible adherence to routines OMIM:607373
Microphthalmia, Isolated, With Corectopia
Ectopia pupillae OMIM:156900
Parasomnia, Sleep Bruxism Type
Bruxism OMIM:606840
Aneurysm, Intracranial Berry, 12
Fusiform cerebral aneurysm, Cerebral berry aneurysm, Subarachnoid hemorrhage, Internal carotid ar... OMIM:618734
Deafness, Autosomal Dominant 80
Congenital sensorineural hearing impairment, Cochlear aplasia, Abnormal semicircular canal morpho... OMIM:619274
Cataract 50 With Or Without Glaucoma
Cataract, Persistent pupillary membrane OMIM:620253
Cataract 21, Multiple Types
Iris coloboma, Microcornea, Peters anomaly, Cerulean cataract, Corneal opacity, Cortical pulverul... OMIM:610202
Yemenite Deaf-Blind Hypopigmentation Syndrome
Microcornea, Iris coloboma, Chorioretinal coloboma OMIM:601706
Chorea, Childhood-Onset, With Psychomotor Retardation
Chorea, Abnormal head movements OMIM:616939
Corneal Dystrophy-Perceptive Deafness Syndrome
Corneal dystrophy, Corneal opacity ORPHA:1490
Cataract 9, Multiple Types
Cataract, Microcornea, Progressive cataract, Developmental cataract, Iris coloboma OMIM:604219
Iridocorneal Endothelial Syndrome
Posterior synechiae of the anterior chamber, Central heterochromia, Ectopia pupillae, Abnormal mi... ORPHA:64734
Smith-Magenis syndrome
Motor stereotypy, Hyperactivity, Self-mutilation DECIPHER:8
Biemond Syndrome Ii
Iris coloboma OMIM:210350
Intellectual Developmental Disorder, X-Linked 72
Motor stereotypy, Hyperactivity OMIM:300271
Glaucoma 3, Primary Congenital, D
Primary congenital glaucoma, Ectopia lentis, Corneal opacity OMIM:613086
Posterior Polymorphous Corneal Dystrophy
Increased corneal curvature, Ectopia pupillae, Uveal ectropion, Astigmatism, Abnormal Descemet me... ORPHA:98973
Aneurysm, Intracranial Berry, 1
Dilatation of the cerebral artery, Intracranial hemorrhage OMIM:105800
Aneurysm, Intracranial Berry, 2
Subarachnoid hemorrhage, Cerebral berry aneurysm OMIM:608542
Hypermethioninemia With S-Adenosylhomocysteine Hydrolase Deficiency
Hypoalbuminemia, Hypermethioninemia, Failure to thrive, Cardiomyopathy, Increased circulating cre... OMIM:613752
Central Cloudy Dystrophy Of Francois
Central corneal dystrophy, Corneal dystrophy OMIM:217600
Schnyder Corneal Dystrophy
Corneal dystrophy, Crystalline corneal dystrophy OMIM:121800
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development
Cataract, Iris coloboma, Chorioretinal coloboma OMIM:120433
Deafness, X-Linked 6
Bilateral sensorineural hearing impairment, Incomplete partition of the cochlea OMIM:300914
Corneal Dystrophy, Groenouw Type I
Cataract, Punctate corneal dystrophy, Nodular corneal dystrophy, Granular corneal dystrophy OMIM:121900
Klippel-Feil Syndrome 3, Autosomal Dominant
Iris coloboma, Chorioretinal coloboma OMIM:613702
Cholestasis, Progressive Familial Intrahepatic, 12
Cholestasis, Elevated circulating aspartate aminotransferase concentration, Hyperbilirubinemia, S... OMIM:620010
Aniridia 2
Lens subluxation, Cataract, Aniridia, Iris coloboma OMIM:617141
Intellectual Developmental Disorder, Autosomal Recessive 37
Bruxism, Aggressive behavior, Hyperactivity OMIM:615493
Deafness, Autosomal Dominant 75
Abnormal cochlea morphology, Sensorineural hearing impairment OMIM:618778
Internal Carotid Absence
Dilatation of the cerebral artery, Subarachnoid hemorrhage, Cerebral ischemia ORPHA:981
Anterior Segment Dysgenesis 7
Cataract, Microcornea, Anterior synechiae of the anterior chamber, Ocular anterior segment dysgen... OMIM:269400
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome
Bruxism, Aggressive behavior, Hyperactivity ORPHA:356996
Intellectual Developmental Disorder With Autism And Speech Delay
Motor stereotypy OMIM:606053
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome
Microcornea, Chorioretinal coloboma, Remnants of the hyaloid vascular system, Posterior lenticonu... ORPHA:231736
Deafness, Autosomal Recessive 4, With Enlarged Vestibular Aqueduct
Incomplete partition of the cochlea type II, Enlarged vestibular aqueduct, Sensorineural hearing ... OMIM:600791
Isolated Ectopia Lentis
Cataract, Ectopia lentis, Ectopia pupillae ORPHA:1885
Microtia-Eye Coloboma-Imperforation Of The Nasolacrimal Duct Syndrome
Iris coloboma ORPHA:139450
Keratitis, Hereditary
Opacification of the corneal stroma, Keratitis OMIM:148190
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Cataract, Persistent pupillary membrane, Aplasia/Hypoplasia of the iris, Corneal opacity ORPHA:1067
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis
Iris coloboma, Coloboma, Peters anomaly, Ocular anterior segment dysgenesis OMIM:610023
Cornea Plana 1, Autosomal Dominant
Flat cornea OMIM:121400
Morquio Syndrome C
Corneal opacity OMIM:252300
Autism, Susceptibility To, X-Linked 2
Restrictive behavior, Motor stereotypy, Inflexible adherence to routines OMIM:300495
Spinocerebellar Degeneration-Corneal Dystrophy Syndrome
Corneal dystrophy, Corneal opacity ORPHA:3177
Triokinase And Fmn Cyclase Deficiency Syndrome
Hypoalbuminemia, Cataract, Dilated cardiomyopathy, Failure to thrive in infancy, Hepatic steatosi... OMIM:618805
Bile Acid Synthesis Defect, Congenital, 3
Hepatic bridging fibrosis, Hematochezia, Intrahepatic cholestasis, Diarrhea, Hepatic failure, Hep... OMIM:613812
Biliary Atresia, Extrahepatic
Portal fibrosis, Elevated circulating hepatic transaminase concentration, Increased total bilirub... OMIM:210500
Intellectual Developmental Disorder, Autosomal Recessive 58
Self-injurious behavior, Aggressive behavior, Pica, Motor stereotypy OMIM:617270
Diarrhea 13
Hypoalbuminemia, Vomiting, Secretory diarrhea, Elevated circulating hepatic transaminase concentr... OMIM:620357
Exfoliation Syndrome
Cataract, Mydriasis, Pseudoexfoliation, Abnormal lens morphology, Phakodonesis, Pigment depositio... OMIM:177650
Microphthalmia, Syndromic 13
Microcornea, Iris coloboma, Chorioretinal coloboma OMIM:300915
Edinburgh Malformation Syndrome
Jaundice, Neonatal hyperbilirubinemia, Failure to thrive OMIM:129850
Corneal Dystrophy, Epithelial Basement Membrane
Recurrent corneal erosions, Map-dot-fingerprint corneal dystrophy, Corneal dystrophy OMIM:121820
Crigler-Najjar Syndrome Type 1
Neonatal hyperbilirubinemia, Abnormality of the liver, Biliary tract abnormality, Prolonged neona... ORPHA:79234
Galactosemia Iv
Hepatomegaly, Cataract, Prolonged neonatal jaundice, Hypergalactosemia OMIM:618881
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Cataract, Chorioretinal coloboma, Posterior embryotoxon, Corneal opacity, Iris coloboma ORPHA:1473
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)
Hypoalbuminemia, Depletion of mitochondrial DNA in liver, Depressed nasal bridge, Increased total... OMIM:618528
Rotor Syndrome
Conjunctival icterus, Hyperbilirubinemia, Abnormal circulating enzyme concentration or activity, ... ORPHA:3111
Galactosialidosis
Corneal opacity ORPHA:351
Cat-Eye Syndrome (Type I)
Iris coloboma DECIPHER:42
Cholestasis, Progressive Familial Intrahepatic, 8
Hepatic bridging fibrosis, Hepatic fibrosis, Elevated gamma-glutamyltransferase level, Cholestasi... OMIM:619662
Peroxisome Biogenesis Disorder 8A (Zellweger)
Cataract, Elevated circulating aspartate aminotransferase concentration, Ventricular septal defec... OMIM:614876
Neurodevelopmental Disorder With Hypotonia And Impaired Expressive Language And With Or Without Seizures
Aggressive behavior, Motor stereotypy, Agitation OMIM:617171
Crigler-Najjar Syndrome, Type Ii
Reduced tissue UDP-glucuronyl-transferase activity, Unconjugated hyperbilirubinemia, Jaundice, El... OMIM:606785
Kahrizi Syndrome
Cataract, Iris coloboma OMIM:612713
Macular Dystrophy, Corneal
Recurrent corneal erosions, Punctate opacification of the cornea, Corneal dystrophy OMIM:217800
Thiel-Behnke Corneal Dystrophy
Opacification of the corneal stroma, Astigmatism, Subepithelial corneal opacities, Recurrent corn... ORPHA:98960
Corneal Dystrophy, Lattice Type I
Recurrent corneal erosions, Lattice corneal dystrophy OMIM:122200
Cholestasis, Progressive Familial Intrahepatic, 3
Intrahepatic cholestasis, Elevated gamma-glutamyltransferase level, Diarrhea, Portal fibrosis, El... OMIM:602347
Mucous Membrane Pemphigoid
Corneal opacity ORPHA:46486
Galactosemia Ii
Prolonged neonatal jaundice, Cataract, Hypergalactosemia OMIM:230200
Corneal Dystrophy, Fuchs Endothelial, 3
Corneal guttata, Corneal stromal edema, Corneal opacity OMIM:613267
Microphthalmia/Coloboma 5
Iris coloboma, Chorioretinal coloboma OMIM:611638
Retinal Dystrophy And Iris Coloboma With Or Without Cataract
Iris coloboma, Posterior synechiae of the anterior chamber, Developmental cataract OMIM:616722
Cholestasis, Progressive Familial Intrahepatic, 11
Abnormal circulating bilirubin concentration, Elevated circulating aspartate aminotransferase con... OMIM:619874
Dubin-Johnson Syndrome
Jaundice, Conjugated hyperbilirubinemia, Biliary tract abnormality OMIM:237500
Spinocerebellar Ataxia, Autosomal Recessive 3
Ataxia, Hearing impairment, Cochlear degeneration OMIM:271250
Cog7-Cdg
Diarrhea, Elevated circulating hepatic transaminase concentration, Failure to thrive, Abnormal he... ORPHA:79333
Familial Pterygium Of The Conjunctiva
Opacification of the corneal stroma ORPHA:2989
Cerebral Cavernous Malformations 2
Telangiectasia, Cerebral cavernous malformation, Stroke, Cerebral hemorrhage OMIM:603284
Facial Spasm
Anisocoria OMIM:134300
Cerebral Amyloid Angiopathy, Cst3-Related
Stroke, Intracranial hemorrhage, Cerebral hemorrhage OMIM:105150
Corneal Dystrophy, Punctiform And Polychromatic Pre-Descemet
Posterior corneal stroma punctiform multicolored opacities OMIM:619871
Corneal Dystrophy And Perceptive Deafness
Opacification of the corneal stroma, Corneal dystrophy OMIM:217400
Axenfeld-Rieger Syndrome, Type 3
Ectopia pupillae, Posterior embryotoxon, Posterior synechiae of the anterior chamber, Hypoplasia ... OMIM:602482
Deafness, Autosomal Dominant 44
Tinnitus, Abnormal vestibular function, Abnormal inner ear morphology, Sensorineural hearing impa... OMIM:607453
Deafness, Autosomal Dominant 86
Tinnitus, Abnormal vestibular function, Abnormal inner ear morphology, Sensorineural hearing impa... OMIM:620280
Spinocerebellar Degeneration And Corneal Dystrophy
Corneal stromal edema, Opacification of the corneal stroma, Corneal dystrophy OMIM:271310
Congenital Bile Acid Synthesis Defect Type 3
Hepatic failure, Cholestasis, Elevated circulating aspartate aminotransferase concentration, Hepa... ORPHA:79302
Cochleosaccular Degeneration-Cataract Syndrome
Ataxia, Progressive sensorineural hearing impairment, Cochlear degeneration ORPHA:3233
Macrosomia-Microphthalmia-Cleft Palate Syndrome
Microcornea, Corneal opacity ORPHA:2432
Lattice Corneal Dystrophy Type I
Abnormal cornea morphology, Corneal scarring, Astigmatism, Subepithelial corneal opacities, Recur... ORPHA:98964
Ring Dermoid Of Cornea
Abnormal cornea morphology, Abnormal corneal limbus morphology, Corneal astigmatism, Conjunctival... OMIM:180550
Galactosemia Iii
Vomiting, Failure to thrive, Splenomegaly, Decreased beta-galactosidase activity, Hepatomegaly, J... OMIM:230350
Aniridia 1
Chorioretinal hypopigmentation, Cataract, Ectopia lentis, Hypoplasia of the iris, Ectopia pupilla... OMIM:106210
Cerebral Cavernous Malformations
Cerebral cavernous malformation, Intracranial hemorrhage OMIM:116860
Chromosome 15Q11-Q13 Duplication Syndrome
Restrictive behavior, Motor stereotypy, Inflexible adherence to routines OMIM:608636
Macrophthalmia, Colobomatous, With Microcornea
Microcornea, Optic disc coloboma, Chorioretinal coloboma, Flat cornea, Shallow anterior chamber, ... OMIM:602499
Congenital Bile Acid Synthesis Defect Type 2
Giant cell hepatitis, Hepatic failure, Elevated circulating hepatic transaminase concentration, I... ORPHA:79303
Hypermethioninemia Due To Adenosine Kinase Deficiency
Hypermethioninemia, Portal fibrosis, Elevated circulating S-adenosyl-L-homocysteine concentration... OMIM:614300
Anterior Segment Dysgenesis 6
Posterior synechiae of the anterior chamber, Abnormal Descemet membrane morphology, Corneal neova... OMIM:617315
Citrullinemia, Type Ii, Neonatal-Onset
Elevated gamma-glutamyltransferase level, Hyperbilirubinemia, Hyperthreoninemia, Elevated circula... OMIM:605814
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Elevated gamma-glutamyltransferase level, Diarrhea, Cholestasis, Increased LDL cholesterol concen... ORPHA:247598
Cardiomyopathy, Dilated, 2G
Aortic regurgitation, Dilated cardiomyopathy, Cardiogenic shock, Tricuspid regurgitation, Myofibe... OMIM:619897
Neonatal Hemochromatosis
Increased circulating iron concentration, Increased circulating ferritin concentration, Prominent... ORPHA:446
Retinal Dystrophy, Iris Coloboma, And Comedogenic Acne Syndrome
Microcornea, Iris coloboma OMIM:615147
Crigler-Najjar Syndrome, Type I
Unconjugated hyperbilirubinemia, Jaundice, Elevated circulating hepatic transaminase concentration OMIM:218800
Isolated Biliary Atresia
Elevated gamma-glutamyltransferase level, Periportal fibrosis, Elevated circulating hepatic trans... ORPHA:30391
Intellectual Developmental Disorder, X-Linked 109
Stereotypical body rocking, Recurrent hand flapping, Agitation, Aggressive behavior, Hyperactivit... OMIM:309548
Coloboma, Ocular, Autosomal Recessive
Cataract, Optic disc coloboma, Retinal coloboma, Lens subluxation, Iris coloboma OMIM:216820
Deafness, Autosomal Dominant 77
Tinnitus, Abnormal inner ear morphology, Sensorineural hearing impairment OMIM:618915
Bile Acid Synthesis Defect, Congenital, 5
Hepatic fibrosis, Hepatic failure, Elevated circulating hepatic transaminase concentration, Porta... OMIM:616278
Bile Acid Synthesis Defect, Congenital, 2
Intrahepatic cholestasis, Hepatic failure, Diarrhea, Elevated circulating hepatic transaminase co... OMIM:235555
Parenteral Nutrition-Associated Cholestasis
Hepatic fibrosis, Cholelithiasis, Hepatic failure, Elevated circulating hepatic transaminase conc... ORPHA:567983
Crigler-Najjar Syndrome Type 2
Prolonged neonatal jaundice, Unconjugated hyperbilirubinemia, Neonatal hyperbilirubinemia ORPHA:79235
Fraxe Intellectual Disability
Stereotypical body rocking, Recurrent hand flapping, Impulsivity, Aggressive behavior, Hyperactiv... ORPHA:100973
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss
Hepatic bridging fibrosis, Hepatic fibrosis, Elevated circulating gamma-aminobutyric acid concent... OMIM:619658
Hepatic Veno-Occlusive Disease
Elevated circulating hepatic transaminase concentration, Increased total bilirubin, Increased bod... ORPHA:890
Microcoria, Congenital
Hypoplasia of the iris dilator muscle, Microcoria OMIM:156600
Congenital Disorder Of Glycosylation, Type Iio
Cholestatic liver disease, Hepatic failure, Elevated circulating hepatic transaminase concentrati... OMIM:616828
Congenital Disorder Of Glycosylation, Type Ih
Hypoalbuminemia, Vomiting, Diarrhea, Failure to thrive, Decreased liver function, Cholestasis, El... OMIM:608104
Abetal34V Amyloidosis
Stroke, Abnormal cerebral vascular morphology, Cerebral hemorrhage ORPHA:324703
Hypercholanemia, Familial, 2
Prolonged neonatal jaundice, Unconjugated hyperbilirubinemia, Increased serum bile acid concentra... OMIM:619256
Microphthalmia, Isolated 2
Opacification of the corneal stroma OMIM:610093
Congenital Bile Acid Synthesis Defect Type 1
Gastrointestinal hemorrhage, Elevated circulating hepatic transaminase concentration, Failure to ... ORPHA:79301
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy
Hypoalbuminemia, Intrahepatic cholestasis, Hepatic fibrosis, Elevated gamma-glutamyltransferase l... OMIM:617093
Familial Cervical Artery Dissection
Dilatation of the cerebral artery, Transient ischemic attack, Cerebral ischemia, Stroke, Subarach... ORPHA:36382
Progressive Familial Intrahepatic Cholestasis
Failure to thrive, Cholestasis, Splenomegaly, Hypocalcemia, Hepatomegaly, Jaundice, Short stature ORPHA:172
Galactose Epimerase Deficiency
Cataract, Splenomegaly, Weight loss, Hepatomegaly, Jaundice, Growth delay ORPHA:79238
Circumvallate Placenta Syndrome
Intracranial hemorrhage OMIM:215550
Cornea Plana 2, Autosomal Recessive
Corneal opacity, Sclerocornea, Flat cornea, Corneal arcus, Decreased corneal thickness OMIM:217300
Glycine N-Methyltransferase Deficiency
Hypermethioninemia, Hepatomegaly, Elevated circulating hepatic transaminase concentration OMIM:606664
Glycogen Storage Disease Ixc
Elevated circulating hepatic transaminase concentration, Postnatal growth retardation, Splenomega... OMIM:613027
Cholestasis-Lymphedema Syndrome
Elevated circulating hepatic transaminase concentration, Hyperlipidemia, Splenomegaly, Neonatal c... OMIM:214900
Alg6-Cdg
Hypoalbuminemia, Failure to thrive, Abnormality of the liver, Abnormal circulating enzyme concent... ORPHA:79320
Hyperbilirubinemia, Rotor Type
Jaundice, Conjugated hyperbilirubinemia OMIM:237450
Corneal Dystrophy, Reis-Bucklers Type
Opacification of the corneal stroma, Corneal dystrophy, Corneal erosion, Corneal opacity OMIM:608470
Jaundice, Familial Obstructive, Of Infancy
Jaundice, Neonatal hyperbilirubinemia OMIM:308600
Hyperbilirubinemia, Conjugated, Type Iii
Jaundice, Conjugated hyperbilirubinemia OMIM:237550
Hyperbilirubinemia, Transient Familial Neonatal
Jaundice, Neonatal unconjugated hyperbilirubinemia OMIM:237900
Anterior Segment Dysgenesis 2
Cataract, Microcornea, Peters anomaly, Posterior synechiae of the anterior chamber, Aniridia, Col... OMIM:610256
X-Linked Endothelial Corneal Dystrophy
Nuclear cataract, Band keratopathy, Abnormal corneal endothelium morphology, Corneal opacity ORPHA:293621
Mpi-Cdg
Hypoalbuminemia, Hepatic fibrosis, Gastrointestinal hemorrhage, Diarrhea, Vomiting, Failure to th... ORPHA:79319
Corneal Endothelial Dystrophy
Corneal dystrophy, Opacification of the corneal stroma, Abnormal Descemet membrane morphology, In... OMIM:217700
Peters Anomaly
Peters anomaly, Thinning of Descemet membrane, Subcapsular cataract, Anterior synechiae of the an... ORPHA:708
Lambert Syndrome
Cholestasis, Failure to thrive in infancy, Intrauterine growth retardation, Ventricular septal de... ORPHA:1296
Wolcott-Rallison Syndrome
Hypoalbuminemia, Elevated circulating hepatic transaminase concentration, Growth delay, Exocrine ... ORPHA:1667
Gilbert Syndrome
Unconjugated hyperbilirubinemia, Hepatic failure, Elevated circulating hepatic transaminase conce... OMIM:143500
Cholestasis, Progressive Familial Intrahepatic, 1
Epistaxis, Cholelithiasis, Diarrhea, Failure to thrive, Splenomegaly, Cirrhosis, Short stature, I... OMIM:211600
Ophthalmoplegia, Familial Static
Anisocoria OMIM:165000
Cholestasis, Progressive Familial Intrahepatic, 6
Intrahepatic cholestasis, Periportal fibrosis, Elevated circulating hepatic transaminase concentr... OMIM:619484
Blepharoptosis-Myopia-Ectopia Lentis Syndrome
Iris coloboma, Ectopia lentis ORPHA:1259
Isolated Growth Hormone Deficiency, Type Ia
Prolonged neonatal jaundice, Depressed nasal ridge, Growth delay, Severe short stature OMIM:262400
Axenfeld-Rieger Syndrome, Type 1
Microcornea, Abnormally prominent line of Schwalbe, Ectopia pupillae, Megalocornea, Hypoplasia of... OMIM:180500
Bile Acid Synthesis Defect, Congenital, 1
Intrahepatic cholestasis, Hepatic failure, Diarrhea, Elevated circulating hepatic transaminase co... OMIM:607765
Long-Olsen-Distelmaier Syndrome
Cataract, Microspherophakia, Dilated cardiomyopathy, Secundum atrial septal defect, Failure to th... OMIM:620609
Peroxisome Biogenesis Disorder 13A (Zellweger)
Wide nasal bridge, Intrahepatic cholestasis, Depressed nasal bridge, Elevated circulating asparta... OMIM:614887
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome
Cataract, Microcornea, Ectopia pupillae, Coloboma, Sclerocornea OMIM:615877
Congenital Toxoplasmosis
Diarrhea, Elevated circulating hepatic transaminase concentration, Failure to thrive in infancy, ... ORPHA:858
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Cataract, Microcornea, Posterior synechiae of the anterior chamber, Persistent pupillary membrane... OMIM:221900
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive
Hypoalbuminemia, Keratoconus, Elevated gamma-glutamyltransferase level, Elevated circulating hepa... OMIM:242150
Peroxisome Biogenesis Disorder 12A (Zellweger)
Wide nasal bridge, Cholelithiasis, Hepatic failure, Elevated circulating hepatic transaminase con... OMIM:614886
Hypoalphalipoproteinemia, Primary, 2
Cataract, Corneal arcus OMIM:618463
Combined Oxidative Phosphorylation Deficiency 37
Hypoalbuminemia, Elevated gamma-glutamyltransferase level, Elevated circulating hepatic transamin... OMIM:618329
Gallbladder Disease 1
Hepatic fibrosis, Cholelithiasis, Elevated circulating hepatic transaminase concentration, Portal... OMIM:600803
Cholestasis, Progressive Familial Intrahepatic, 2
Intrahepatic cholestasis, Diarrhea, Failure to thrive, Splenomegaly, Elevated circulating alkalin... OMIM:601847
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy
Cataract, Chorioretinal coloboma, Corneal scarring, Buphthalmos, Iris coloboma OMIM:212550
Charcot-Marie-Tooth Disease Type 1B
Abnormal pupil morphology ORPHA:101082
Cerebral Cavernous Malformations 3
Cerebral cavernous malformation, Cerebral hemorrhage OMIM:603285
Bile Acid Synthesis Defect, Congenital, 4
Hematochezia, Intrahepatic cholestasis, Hepatic failure, Elevated circulating hepatic transaminas... OMIM:214950
Winchester Syndrome
Corneal opacity OMIM:277950
Hepatoportal Sclerosis
Hypoalbuminemia, Nodular regenerative hyperplasia of liver, Gastrointestinal hemorrhage, Periport... ORPHA:64743
Megalocornea
Cataract, Deep anterior chamber, Megalocornea, Lens subluxation, Astigmatism, Iridodonesis, Iris ... OMIM:309300
Congenital Rubella Syndrome
Cataract, Intrauterine growth retardation, Microphthalmia, Aplasia/Hypoplasia of the iris, Spleno... ORPHA:290
Hyperbilirubinemia, Shunt, Primary
Hepatomegaly, Jaundice, Hyperbilirubinemia, Splenomegaly OMIM:237800
Hemochromatosis, Neonatal
Hepatic fibrosis, Increased circulating iron concentration, Hepatic failure, Increased circulatin... OMIM:231100
Congenital Factor V Deficiency
Gingival bleeding, Epistaxis, Gastrointestinal hemorrhage, Hematochezia, Prolonged bleeding follo... ORPHA:326
Cholangiocarcinoma
Biliary tract neoplasm, Jaundice, Acholic stools ORPHA:70567
Developmental And Epileptic Encephalopathy 107
Motor stereotypy OMIM:620033
Corneal Dystrophy, Fuchs Endothelial, 1
Corneal guttata, Corneal degeneration, Descemet Membrane Folds, Corneal stromal edema, Corneal dy... OMIM:136800
Factor Xiii, A Subunit, Deficiency Of
Gingival bleeding, Epistaxis, Abnormal bleeding, Bruising susceptibility, Spontaneous hematomas, ... OMIM:613225
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Hypoalbuminemia, Depletion of mitochondrial DNA in liver, Hepatic failure, Vomiting, Periportal f... OMIM:251880
Bilateral Striopallidodentate Calcinosis
Corneal opacity ORPHA:1980
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures
Attention deficit hyperactivity disorder, Motor stereotypy OMIM:618709
Sclerosing Cholangitis, Neonatal
Hepatic bridging fibrosis, Elevated gamma-glutamyltransferase level, Hepatic failure, Portal fibr... OMIM:617394
Developmental Delay, Behavioral Abnormalities, And Neuropsychiatric Disorders
Attention deficit hyperactivity disorder, Motor stereotypy OMIM:620065
Autism, Susceptibility To, 3
Restrictive behavior, Motor stereotypy, Inflexible adherence to routines OMIM:608049
Cat-Eye Syndrome
Iris coloboma, Chorioretinal coloboma ORPHA:195
Reversible Cerebral Vasoconstriction Syndrome
Vasospasm, Abnormal bleeding, Subdural hemorrhage, Dilatation of the cerebral artery, Transient i... ORPHA:284388
Mitochondrial Complex Iii Deficiency, Nuclear Type 5
Elevated circulating hepatic transaminase concentration, Elevated circulating sebacic acid concen... OMIM:615160
Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract
Cataract, Aniridia, Microcornea OMIM:106230
Opticocochleodentate Degeneration
Optic atrophy, Hearing impairment, Cochlear degeneration OMIM:258700
Distal Deletion 6P
Hypoplasia of the iris, Ectopia pupillae, Posterior embryotoxon, Abnormal anterior chamber morpho... ORPHA:96125
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Cholestatic liver disease, Giant cell hepatitis, Elevated gamma-glutamyltransferase level, Elevat... OMIM:208085
Factor Vii Deficiency
Epistaxis, Abnormal bleeding, Bruising susceptibility, Prolonged bleeding after dental extraction... OMIM:227500
Anterior Segment Dysgenesis 5
Microcornea, Peters anomaly, Hypoplasia of the iris, Rieger anomaly, Posterior embryotoxon, Devel... OMIM:604229
Liver Failure, Infantile, Transient
Hypoalbuminemia, Vomiting, Elevated circulating hepatic transaminase concentration, Acute hepatic... OMIM:613070
Hyperprolinemia, Type I
Aggressive behavior, Motor stereotypy, Hyperactivity OMIM:239500
Cystic Echinococcosis
Cholestatic liver disease, Peritoneal abscess, Elevated gamma-glutamyltransferase level, Abnormal... ORPHA:400
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Hypoalbuminemia, Hepatic failure, Elevated circulating hepatic transaminase concentration, Dilate... ORPHA:367
Granular Corneal Dystrophy Type Ii
Corneal crystals, Subepithelial corneal opacities, Recurrent corneal erosions, Opacification of t... ORPHA:98963
Congenital Hereditary Endothelial Dystrophy Type Ii
Abnormal Descemet membrane morphology, Irregular astigmatism, Corneal stromal edema, Increased co... ORPHA:293603
Red Cell Phospholipid Defect With Hemolysis
Hyperbilirubinemia, Splenomegaly, Intermittent jaundice OMIM:179700
Coats Disease
Leukocoria OMIM:300216
Benign Recurrent Intrahepatic Cholestasis
Cholestatic liver disease, Cholelithiasis, Elevated circulating hepatic transaminase concentratio... ORPHA:65682
Caroli Disease
Elevated gamma-glutamyltransferase level, Cholestasis, Elevated circulating alkaline phosphatase ... ORPHA:53035
Stickler Syndrome Type 2
Cataract, Corneal opacity ORPHA:90654
Humero-Radial Synostosis
Iris coloboma, Chorioretinal coloboma ORPHA:3265
S-Adenosylhomocysteine Hydrolase Deficiency
Hypoalbuminemia, Hypermethioninemia, Elevated circulating hepatic transaminase concentration, Fai... ORPHA:88618
Abruzzo-Erickson Syndrome
Microcornea, Coloboma, Iris coloboma, Chorioretinal coloboma ORPHA:921
X-Linked Intellectual Disability-Retinitis Pigmentosa Syndrome
Iris hypopigmentation ORPHA:85332
Isolated Polycystic Liver Disease
Gastrointestinal hemorrhage, Gastroesophageal reflux, Increased total bilirubin, Hepatomegaly, Po... ORPHA:2924
Acute Peripheral Arterial Occlusion
Abnormal capillary physiology, Supraventricular tachycardia, Pallor, Abnormality of venous physio... ORPHA:90064
Hemolytic Anemia Due To Glutathione Reductase Deficiency
Cataract, Hyperbilirubinemia, Reduced erythrocyte glutathione reductase activity OMIM:618660
Corneal Dystrophy, Meesmann, 1
Punctate opacification of the cornea, Corneal dystrophy OMIM:122100
Congenital Disorder Of Glycosylation, Type Il
Hypoalbuminemia, Depressed nasal bridge, Failure to thrive, Hypocholesterolemia, Splenomegaly, At... OMIM:608776
Woolly Hair
Cataract, Abnormal pupil morphology ORPHA:170
Familial Cerebral Saccular Aneurysm
Abnormal circle of Willis morphology, Aortic root aneurysm, Aortic dissection, Atherosclerosis, T... ORPHA:231160
Guanidinoacetate Methyltransferase Deficiency
Self-injurious behavior, Abnormal head movements, Chorea, Aggressive behavior, Hyperactivity, Ata... ORPHA:382
Microphthalmia/Coloboma 9
Microcornea, Ocular anterior segment dysgenesis, Sclerocornea, Iris coloboma, Macular coloboma OMIM:615145
Caroli Syndrome
Hypersplenism, Hyperbilirubinemia, Congenital hepatic fibrosis, Elevated circulating alkaline pho... ORPHA:480520
Bile Acid Conjugation Defect 1
Hepatic failure, Elevated circulating aspartate aminotransferase concentration, Elevated circulat... OMIM:619232
Abeta Amyloidosis, Italian Type
Stroke, Cerebral hemorrhage ORPHA:324713
X-Linked Recessive Ocular Albinism
Iris hypopigmentation, Abnormal pupil morphology, Astigmatism, Ocular albinism ORPHA:54
Keratoendotheliitis Fugax Hereditaria
Conjunctival hyperemia, Opacification of the corneal stroma, Keratitis OMIM:148200
Autosomal Dominant Keratitis
Cataract, Microcornea, Keratitis, Abnormal corneal limbus morphology, Aniridia, Corneal neovascul... ORPHA:2334
Developmental And Epileptic Encephalopathy 30
Motor stereotypy OMIM:616341
Immunodeficiency 115 With Autoinflammation
Hypoalbuminemia, Elevated haptoglobin level, Postnatal growth retardation, Abnormal circulating c... OMIM:620632
Congenital Disorder Of Glycosylation, Type Ib
Hypoalbuminemia, Hepatic fibrosis, Hepatic failure, Vomiting, Diarrhea, Failure to thrive, Hepato... OMIM:602579
N-Acetylaspartate Deficiency
Motor stereotypy, Self-mutilation OMIM:614063
Obesity, Hyperphagia, And Developmental Delay
Polyphagia, Motor stereotypy OMIM:613886
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Hypoalbuminemia, Hypermethioninemia, Hepatic failure, Elevated circulating hepatic transaminase c... OMIM:617156
Pick Disease Of Brain
Polyphagia, Inappropriate laughter, Motor stereotypy, Disinhibition OMIM:172700
Afibrinogenemia, Congenital
Gingival bleeding, Epistaxis, Abnormal bleeding, Subdural hemorrhage, Bruising susceptibility, Pr... OMIM:202400
Deafness, Autosomal Dominant 9
Cochlear degeneration, Vertigo, Abnormality of the vestibulocochlear nerve, Tinnitus, Postlingual... OMIM:601369
Diarrhea 7, Protein-Losing Enteropathy Type
Hypoalbuminemia, Vomiting, Diarrhea, Failure to thrive, Hyperlipidemia, Hypercholesterolemia OMIM:615863
Abeta Amyloidosis, Iowa Type
Stroke, Abnormal cerebral vascular morphology, Cerebral hemorrhage ORPHA:324708
Autoinflammation With Infantile Enterocolitis
Hypoalbuminemia, Secretory diarrhea, Failure to thrive, Increased circulating ferritin concentrat... OMIM:616050
Hepatitis Delta
Hepatic failure, Hepatitis, Bruising susceptibility, Elevated circulating aspartate aminotransfer... ORPHA:402823
Meckel Syndrome, Type 4
Intrauterine growth retardation, Ventricular septal defect, Atrial septal defect, Microphthalmia,... OMIM:611134
Rajab Interstitial Lung Disease With Brain Calcifications 2
Hypoalbuminemia, Elevated circulating hepatic transaminase concentration, Hypopituitarism, Hepato... OMIM:619013
Alg2-Cdg
Cataract, Iris coloboma ORPHA:79326
Alg1-Cdg
Hypoalbuminemia, Cardiomyopathy, Decreased liver function, Abnormal heart morphology, Chronic dia... ORPHA:79327
Citrullinemia Type Ii
Hypoalbuminemia, Hepatic fibrosis, Vomiting, Diarrhea, Elevated circulating hepatic transaminase ... ORPHA:247585
Cleft, Median, Of Upper Lip With Polyps Of Facial Skin And Nasal Mucosa
Iris coloboma OMIM:155145
Immune Thrombocytopenia
Gingival bleeding, Epistaxis, Gastrointestinal hemorrhage, Hemorrhage of the eye, Bruising suscep... ORPHA:3002
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Hypoalbuminemia, Colitis, Obesity, Cardiomegaly ORPHA:88643
Pendred Syndrome
Vertigo, Sensorineural hearing impairment, Enlarged vestibular aqueduct, Ataxia, Abnormality of t... ORPHA:705
Lathosterolosis
Cataract, Elevated circulating lathosterol concentration, Intrahepatic cholestasis, Hepatic fibro... OMIM:607330
Arthrogryposis, Renal Dysfunction, And Cholestasis 2
Cholestatic liver disease, Giant cell hepatitis, Elevated circulating hepatic transaminase concen... OMIM:613404
Developmental And Epileptic Encephalopathy 58
Motor stereotypy OMIM:617830
Leishmaniasis
Hypoalbuminemia, Elevated circulating hepatic transaminase concentration, Splenomegaly, Weight lo... ORPHA:507
Hypomelanosis Of Ito
Cataract, Iris coloboma OMIM:300337
Cholesteryl Ester Storage Disease
Hepatic failure, Diarrhea, Splenomegaly, Cirrhosis, Hypercholesterolemia, Hypertriglyceridemia, H... ORPHA:75234
Bilateral Acute Depigmentation Of The Iris
Abnormal corneal endothelium morphology, Pigment deposition in the trabecular meshwork, Abnormal ... ORPHA:69736
Congenital Factor Ii Deficiency
Epistaxis, Prolonged bleeding following circumcision, Abnormal bleeding, Excessive bleeding from ... ORPHA:325
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies
Cataract, Astigmatism, Ectopia pupillae OMIM:618727
Cholestasis, Intrahepatic, Of Pregnancy, 1
Intrahepatic cholestasis, Elevated circulating hepatic transaminase concentration, Increased seru... OMIM:147480
Glanzmann Thrombasthenia 1
Gingival bleeding, Epistaxis, Gastrointestinal hemorrhage, Subdural hemorrhage, Excessive bleedin... OMIM:273800
Hemophagocytic Lymphohistiocytosis, Familial, 4
Increased circulating ferritin concentration, Splenomegaly, Jaundice, Hypertriglyceridemia, Hepat... OMIM:603552
Trichohepatoenteric Syndrome 1
Cholestasis, Ventricular septal defect, Cirrhosis, Hepatomegaly, Jaundice, Wide nose, Depressed n... OMIM:222470
Joint Laxity, Short Stature, And Myopia
Iris coloboma, Chorioretinal coloboma OMIM:617662
Mirizzi Syndrome
Cholelithiasis, Vomiting, Elevated circulating hepatic transaminase concentration, Hyperbilirubin... ORPHA:521219
Lambert Syndrome
Jaundice, Intrahepatic biliary atresia OMIM:245550
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy
Recurrent hand flapping, Motor stereotypy, Dysphagia OMIM:617862
Infantile Sialic Acid Storage Disease
Failure to thrive, Anteverted nares, Splenomegaly, Cardiomegaly, Hepatomegaly, Conjugated hyperbi... OMIM:269920
Congenital Factor Vii Deficiency
Gingival bleeding, Epistaxis, Gastrointestinal hemorrhage, Bruising susceptibility, Intracranial ... ORPHA:327
Woolly Hair Nevus
Heterochromia iridis, Persistent pupillary membrane ORPHA:79414
Cerebral Amyloid Angiopathy, App-Related
Tortuous cerebral arteries, Cerebral ischemia, Stroke, Subarachnoid hemorrhage, Recurrent cerebra... OMIM:605714
Myopathy, Tubular Aggregate, 1
Abnormal pupil morphology OMIM:160565
Hypertriglyceridemia, Transient Infantile
Hepatic fibrosis, Elevated gamma-glutamyltransferase level, Vomiting, Elevated circulating hepati... OMIM:614480
Hijazi-Reis Syndrome
Iris coloboma, Astigmatism OMIM:301094
Cholestasis, Benign Recurrent Intrahepatic, 2
Intrahepatic cholestasis, Cholelithiasis, Elevated circulating alkaline phosphatase concentration... OMIM:605479
Hardikar Syndrome
Portal inflammation, Cholestasis, Hepatosplenomegaly, Hyperbilirubinemia, Hypersplenism, Ventricu... OMIM:301068
Amoebic Keratitis
Cataract, Corneal perforation, Abnormal cornea morphology, Punctate opacification of the cornea, ... ORPHA:67043
Hemophagocytic Lymphohistiocytosis, Familial, 1
Hypoalbuminemia, Failure to thrive, Increased circulating ferritin concentration, Increased total... OMIM:267700
Granular Corneal Dystrophy Type I
Corneal crystals, Abnormal corneal epithelium morphology, Subepithelial corneal opacities, Recurr... ORPHA:98962
Intellectual Developmental Disorder With Paroxysmal Dyskinesia Or Seizures
Bruxism, Inappropriate laughter, Motor stereotypy, Aggressive behavior OMIM:619150
Cholestasis-Lymphedema Syndrome
Gastrointestinal hemorrhage, Hyperlipidemia, Splenomegaly, Portal hypertension, Biliary tract abn... ORPHA:1414
Primary Dystonia, Dyt13 Type
Motor stereotypy, Jerky head movements ORPHA:98807
Congenital Hydrocephalus
Iris coloboma ORPHA:2185
Cholestasis, Progressive Familial Intrahepatic, 5
Hepatic failure, Failure to thrive, Elevated circulating aspartate aminotransferase concentration... OMIM:617049
Galloway-Mowat Syndrome 6
Hypoalbuminemia, Decreased response to growth hormone stimulation test, Intrauterine growth retar... OMIM:618347
Benign Paroxysmal Torticollis Of Infancy
Vertigo, Abnormal head movements, Ataxia ORPHA:71518
Polycystic Liver Disease 1 With Or Without Kidney Cysts
Polycystic liver disease, Elevated circulating alkaline phosphatase concentration, Increased tota... OMIM:174050
Dubin-Johnson Syndrome
Abnormality of the liver, Biliary tract abnormality, Hepatomegaly, Jaundice, Conjugated hyperbili... ORPHA:234
Spondylo-Ocular Syndrome
Iris hypopigmentation, Cataract, Ventricular septal defect, Disproportionate short-trunk short st... ORPHA:85194
Fuchs Endothelial Corneal Dystrophy
Abnormal corneal endothelium morphology, Abnormal Descemet membrane morphology, Reduced number of... ORPHA:98974
Glycogen Storage Disease Vi
Elevated circulating hepatic transaminase concentration, Failure to thrive in infancy, Postnatal ... OMIM:232700
Laurence-Moon Syndrome
Cataract, Iris coloboma ORPHA:2377
Glycogen Storage Disease Vii
Cholelithiasis, Increased circulating lactate dehydrogenase concentration, Increased total biliru... OMIM:232800
Cortical Dysplasia, Complex, With Other Brain Malformations 2
Self-injurious behavior, Motor stereotypy OMIM:615282
Harderoporphyria
Neonatal hyperbilirubinemia, Vomiting, Increased circulating ferritin concentration, Splenomegaly... OMIM:618892
Pelvis-Shoulder Dysplasia
Opacification of the corneal stroma, Iris coloboma, Optic disc coloboma OMIM:169550
Cholestasis, Benign Recurrent Intrahepatic, 1
Intermittent jaundice, Increased serum bile acid concentration, Pancreatitis, Intrahepatic choles... OMIM:243300
Temtamy Syndrome
Iris coloboma, Chorioretinal coloboma ORPHA:1777
Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features
Self-injurious behavior, Inflexible adherence to routines, Aggressive behavior, Attention deficit... OMIM:613670
Nephronophthisis 19
Malformation of the hepatic ductal plate, Hepatic fibrosis, Cholestasis, Splenomegaly, Hepatomega... OMIM:616217
Amoebiasis Due To Entamoeba Histolytica
Hypoalbuminemia, Diarrhea, Elevated circulating hepatic transaminase concentration, Bloody diarrh... ORPHA:67
Reticuloendotheliosis, X-Linked
Jaundice, Hepatosplenomegaly OMIM:312500
Renal-Hepatic-Pancreatic Dysplasia 1
Malformation of the hepatic ductal plate, Hepatic fibrosis, Aortic valve stenosis, Biliary cirrho... OMIM:208540
Rutherfurd Syndrome
Opacification of the corneal stroma, Corneal dystrophy OMIM:180900
Chylomicron Retention Disease
Hypoalbuminemia, Diarrhea, Vomiting, Hypotriglyceridemia, Failure to thrive, Hypocholesterolemia,... OMIM:246700
Microphthalmia With Brain And Digit Anomalies
Cataract, Microcornea, Chorioretinal coloboma, Sclerocornea, Iris coloboma ORPHA:139471
Cholestasis, Intrahepatic, Of Pregnancy 3
Abnormal liver function tests during pregnancy, Increased serum bile acid concentration during pr... OMIM:614972
Macular Corneal Dystrophy
Corneal crystals, Punctate opacification of the cornea, Recurrent corneal erosions, Opacification... ORPHA:98969
Coproporphyria, Hereditary
Vomiting, Diarrhea, Splenomegaly, Constipation, Hepatomegaly, Jaundice, Cutaneous photosensitivity OMIM:121300
Cataract-Intellectual Disability-Anal Atresia-Urinary Defects Syndrome
Tetralogy of Fallot, Cataract, Cryptorchidism, Aplasia/Hypoplasia of the lens ORPHA:1381
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome
Lens subluxation, Coloboma, Corneal opacity, Ectopia pupillae ORPHA:85167
Norrie Disease
Cataract, Hypoplasia of the iris, Opacification of the corneal stroma, Leukocoria, Corneal opacit... OMIM:310600
Glycogen Storage Disease Iii
Hepatic fibrosis, Ventricular hypertrophy, Elevated circulating hepatic transaminase concentratio... OMIM:232400
Hirschsprung Disease-Ganglioneuroblastoma Syndrome
Abnormal pupil morphology ORPHA:2151
Fetal And Neonatal Alloimmune Thrombocytopenia
Gastrointestinal hemorrhage, Abnormal bleeding, Spontaneous hematomas, Petechiae, Ecchymosis, Sub... ORPHA:853
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome
Cholestatic liver disease, Elevated gamma-glutamyltransferase level, Inflammation of the large in... ORPHA:562639
Limbal Stem Cell Deficiency
Corneal perforation, Opacification of the corneal epithelium, Keratitis, Corneal scarring, Cornea... ORPHA:171673
Unilateral Ocular Duplication
Microcornea, Abnormal pupil morphology, Iris coloboma ORPHA:3374
Linear Verrucous Nevus Syndrome
Cataract, Abnormal cornea morphology, Iris coloboma ORPHA:2611
7Q31 Microdeletion Syndrome
Low-set ears, Abnormal temper tantrums, Childhood onset sensorineural hearing impairment, Enlarge... ORPHA:251061
Hemophilia A
Gastrointestinal hemorrhage, Spontaneous hematomas, Intracranial hemorrhage, Intraventricular hem... ORPHA:98878
Factor X Deficiency
Gingival bleeding, Epistaxis, Intracranial hemorrhage, Prolonged bleeding after surgery, Prolonge... OMIM:227600
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Elevated circulating hepatic transaminase concentration, Increased circulating ferritin concentra... OMIM:616860
Deafness, X-Linked 5, With Peripheral Neuropathy
Hearing impairment, Abnormal speech discrimination, Vertigo, Cochlear nerve hypoplasia, Tinnitus,... OMIM:300614
Hydroxykynureninuria
Jaundice, Vomiting OMIM:236800
Primary Sclerosing Cholangitis
Cholestasis, Acute hepatic failure, Hepatosplenomegaly, Abnormal biliary tract morphology, Cirrho... ORPHA:171
Moderate Hemophilia A
Gingival bleeding, Gastrointestinal hemorrhage, Abnormal bleeding, Subdural hemorrhage, Spontaneo... ORPHA:169805
Idiopathic Congenital Hypothyroidism
Prolonged neonatal jaundice, Depressed nasal bridge, Neonatal hyperbilirubinemia, Constipation ORPHA:95717
Corneal Dystrophy, Fuchs Endothelial, 2
Corneal guttata, Corneal degeneration, Corneal dystrophy OMIM:610158
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Increased circulating free fatty acid level, Vomiting, Elevated circulating hepatic transaminase ... ORPHA:26793
Anterior Segment Dysgenesis 1
Posterior polar cataract, Microcornea, Peters anomaly, Ocular anterior segment dysgenesis, Opacif... OMIM:107250
Corneal Dystrophy, Thiel-Behnke Type
Juvenile epithelial corneal dystrophy, Corneal scarring, Corneal dystrophy OMIM:602082
Immunodeficiency 27A
Hypoalbuminemia, Diarrhea, Hepatosplenomegaly, Splenomegaly, Weight loss OMIM:209950
Intrahepatic Cholestasis Of Pregnancy
Elevated circulating hepatic transaminase concentration, Abnormal pineal melatonin secretion, Hyp... ORPHA:69665
Primary Biliary Cholangitis
Hypoalbuminemia, Hepatic fibrosis, Hepatic failure, Biliary cirrhosis, Elevated gamma-glutamyltra... ORPHA:186
Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Recessive
Self-injurious behavior, Motor stereotypy OMIM:617820
Pseudo-Torch Syndrome 1
Cataract, Elevated circulating hepatic transaminase concentration, Failure to thrive, Decreased l... OMIM:251290
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Aggressive behavior, Motor stereotypy, Hyperactivity OMIM:619470
Congenital Factor Xiii Deficiency
Gingival bleeding, Epistaxis, Delayed onset bleeding, Prolonged bleeding following circumcision, ... ORPHA:331
Familial Hemophagocytic Lymphohistiocytosis
Hypoalbuminemia, Cholestatic liver disease, Elevated circulating hepatic transaminase concentrati... ORPHA:540
Peroxisome Biogenesis Disorder 7A (Zellweger)
Cataract, Elevated circulating hexacosanoic acid concentration, Hepatomegaly, Elevated circulatin... OMIM:614872
Pyruvate Kinase Deficiency Of Red Cells
Cholelithiasis, Reduced red cell pyruvate kinase level, Intrauterine growth retardation, Cholecys... OMIM:266200
Hemophagocytic Lymphohistiocytosis, Familial, 2
Hypoalbuminemia, Elevated circulating hepatic transaminase concentration, Failure to thrive, Incr... OMIM:603553
Corneal Dystrophy, Congenital Stromal
Corneal dystrophy, Band-shaped corneal dystrophy, Increased corneal thickness, Corneal erosion OMIM:610048
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Hypoalbuminemia, Decreased liver function, Intrauterine growth retardation, Ventricular septal de... OMIM:617021
Glycogen Storage Disease Xii
Cholelithiasis, Increased circulating lactate dehydrogenase concentration, Hyperbilirubinemia, Ch... OMIM:611881
Corneal Dystrophy, Fuchs Endothelial, 8
Corneal guttata, Corneal dystrophy OMIM:615523
Ocular Motor Apraxia
Jerky head movements OMIM:257550
Corneal Dystrophy, Fuchs Endothelial, 6
Corneal guttata, Keratitis, Abnormal Descemet membrane morphology, Corneal stromal edema, Corneal... OMIM:613270
Congenital Hypothyroidism Due To Transplacental Passage Of Tsh-Binding Inhibitory Antibodies
Prolonged neonatal jaundice, Abnormal circulating thyroglobulin concentration, Constipation, Conj... ORPHA:95715
Congenital Alpha2-Antiplasmin Deficiency
Gingival bleeding, Abnormal bleeding, Bruising susceptibility, Hemothorax, Intracranial hemorrhag... ORPHA:79
Oculopalatocerebral Syndrome
Leukocoria, Remnants of the hyaloid vascular system OMIM:257910
Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome
Neonatal hyperbilirubinemia, Decreased response to growth hormone stimulation test, Cryptorchidis... ORPHA:3363
Bile Acid Malabsorption, Primary, 2
Elevated gamma-glutamyltransferase level, Periportal fibrosis, Decreased circulating chenodeoxych... OMIM:619481
Al Amyloidosis
Hypoalbuminemia, Abnormal cardiac ventricle morphology, Gastrointestinal hemorrhage, Monoclonal l... ORPHA:85443
Wilson Disease
Elevated circulating hepatic transaminase concentration, Hepatitis, Kayser-Fleischer ring, Failur... ORPHA:905
Congenital Disorder Of Glycosylation, Type Iir
Elevated circulating hepatic transaminase concentration, Micronodular cirrhosis, Decreased liver ... OMIM:301045
Non-Acquired Isolated Growth Hormone Deficiency
Depressed nasal bridge, Growth delay, Premature skin wrinkling, Delayed puberty, Abdominal obesit... ORPHA:631
Amyotrophic Lateral Sclerosis 10 With Or Without Frontotemporal Dementia
Motor stereotypy, Dysphagia, Disinhibition OMIM:612069
Epithelial Recurrent Erosion Dystrophy
Corneal scarring, Irregular astigmatism, Subepithelial corneal opacities, Recurrent corneal erosi... ORPHA:293381
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis
Hepatic fibrosis, Hepatic failure, Cholestasis, Portal hypertension, Splenomegaly, Sclerosing cho... OMIM:607626
Intellectual Developmental Disorder, X-Linked, Syndromic 17
Anisocoria OMIM:300858
Hepatitis, Fulminant Viral, Susceptibility To
Hepatic failure, Elevated circulating hepatic transaminase concentration, Jaundice, Hepatomegaly,... OMIM:618549
Fetal Cytomegalovirus Syndrome
Elevated circulating hepatic transaminase concentration, Hepatitis, Intrauterine growth retardati... ORPHA:294
Subaortic Stenosis-Short Stature Syndrome
Abnormal circulating lipid concentration, Obesity, Anteverted nares, Biliary tract abnormality, S... ORPHA:3191
Lipoyltransferase 1 Deficiency
Elevated circulating hepatic transaminase concentration, Decreased liver function, Increased tota... OMIM:616299
Congenital Disorder Of Glycosylation, Type Iie
Gastroesophageal reflux, Secundum atrial septal defect, Failure to thrive, Decreased liver functi... OMIM:608779
Biliary, Renal, Neurologic, And Skeletal Syndrome
Elevated gamma-glutamyltransferase level, Unbalanced atrioventricular canal defect, Cholestasis, ... OMIM:619534
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism
Jaundice, Splenomegaly OMIM:206400
Homocystinuria-Megaloblastic Anemia, Cblg Complementation Type
Vomiting, Diarrhea, Failure to thrive, Decreased methionine synthase activity, Hypomethioninemia,... OMIM:250940
Fish-Eye Disease
Opacification of the corneal stroma OMIM:136120
Thrombophilia Due To Protein S Deficiency, Autosomal Recessive
Purpura, Pulmonary embolism, Cerebral hemorrhage OMIM:614514
Macrophage Activation Syndrome
Hypoalbuminemia, Increased circulating lactate dehydrogenase concentration, Hepatitis, Decreased ... ORPHA:158061
Meckel Syndrome, Type 7
Aortic valve stenosis, Biliary cirrhosis, Cholestasis, Hepatosplenomegaly, Portal hypertension, S... OMIM:267010
Refractory Celiac Disease
Hypoalbuminemia, Elevated circulating hepatic transaminase concentration, Hypomagnesemia, Abnorma... ORPHA:398063
Hec Syndrome
Abnormal pupil morphology, Developmental cataract ORPHA:2119
Autosomal Dominant Spastic Ataxia Type 1
Impaired vibration sensation in the lower limbs, Limb ataxia, Spastic ataxia, Jerky head movement... ORPHA:251282
Severe Hemophilia A
Epistaxis, Gastrointestinal hemorrhage, Prolonged bleeding following circumcision, Subdural hemor... ORPHA:169802
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Hepatic failure, Elevated circulating hepatic transaminase concentration, Increased circulating l... ORPHA:158057
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy
Lens subluxation, Corneal opacity, Optic disc coloboma, Ectopia pupillae OMIM:608940
Gombo Syndrome
Abnormal heart morphology, Delayed puberty, Microphthalmia OMIM:233270
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency
Cholelithiasis, Hyperbilirubinemia, Splenomegaly, Cholecystitis, Reduced erythrocyte hexokinase a... OMIM:235700
Familial Afibrinogenemia
Gingival bleeding, Epistaxis, Abnormal bleeding, Cerebral hemorrhage ORPHA:98880
Congenital Plasminogen Activator Inhibitor Type 1 Deficiency
Epidural hemorrhage, Gastrointestinal hemorrhage, Epistaxis, Prolonged bleeding after dental extr... ORPHA:465
Lymphoproliferative Syndrome, X-Linked, 1
Hypoalbuminemia, Hepatic failure, Splenomegaly, Hepatomegaly, Recurrent pharyngitis, Elevated cir... OMIM:308240
Anterior Chamber Cleavage Disorder, Cerebellar Hypoplasia, Hypothyroidism, And Tracheal Stenosis
Iris coloboma, Ocular anterior segment dysgenesis OMIM:601427
Congenital Heart Block
Atrioventricular block, Second degree atrioventricular block, Third degree atrioventricular block... ORPHA:60041
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Increased circulating iron concentration, Increased circulating ferritin concentration, Reduced r... ORPHA:766
Peroxisome Biogenesis Disorder 2A (Zellweger)
Cataract, Failure to thrive, Abnormal heart morphology, Intrauterine growth retardation, Opacific... OMIM:214110
Oculoauricular Syndrome
Cataract, Microcornea, Posterior synechiae of the anterior chamber, Chorioretinal coloboma, Retin... OMIM:612109
Congenital Lethal Erythroderma
Hypoalbuminemia, Failure to thrive, Urticaria ORPHA:1954
Microphthalmia, Syndromic 12
Hypoplastic left atrium, Wide nasal bridge, Broad nasal tip, Anophthalmia, Cryptorchidism, Neonat... OMIM:615524
Infantile Liver Failure Syndrome 2
Vomiting, Elevated circulating hepatic transaminase concentration, Cardiomyopathy, Acute hepatic ... OMIM:616483
Corneal Dystrophy, Fuchs Endothelial, 4
Corneal guttata, Corneal dystrophy OMIM:613268
Gómez-López-Hernández Syndrome
Corneal opacity ORPHA:1532
Aicardi-Goutieres Syndrome 9
Hypoalbuminemia, Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Failu... OMIM:619487
Liver Disease, Severe Congenital
Diarrhea, Portal inflammation, Dilatation of the ventricular cavity, Hyperbilirubinemia, Hepatic ... OMIM:619991
Combined Deficiency Of Factor V And Factor Viii
Gingival bleeding, Epistaxis, Gastrointestinal hemorrhage, Prolonged bleeding following circumcis... ORPHA:35909
Congenital Factor X Deficiency
Gingival bleeding, Epistaxis, Gastrointestinal hemorrhage, Bruising susceptibility, Spontaneous h... ORPHA:328
Cholestasis, Progressive Familial Intrahepatic, 9
Malformation of the hepatic ductal plate, Intrahepatic cholestasis, Diarrhea, Micronodular cirrho... OMIM:619849
Erythroderma, Lethal Congenital
Hypoalbuminemia, Failure to thrive OMIM:227090
Zellweger Syndrome
Wide nasal bridge, Cataract, Hepatic failure, Depressed nasal bridge, Failure to thrive, Cryptorc... ORPHA:912
Chromosome 3Q29 Deletion Syndrome
Low-set ears, Aggressive behavior, Posteriorly rotated ears, Hyperactivity, Motor stereotypy, Mac... OMIM:609425
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Diarrhea, Lipid accumulation in hepatocytes, Elevated circulating alanine aminotransferase concen... OMIM:608836
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Hepatic fibrosis, Portal fibrosis, Elevated circulating hepatic transaminase concentration, Failu... ORPHA:369
Infantile Liver Failure Syndrome 3
Hepatic bridging fibrosis, Elevated circulating hepatic transaminase concentration, Cholestasis, ... OMIM:618641
Hemophilia B
Prolonged bleeding after dental extraction, Intracranial hemorrhage, Spontaneous, recurrent epist... ORPHA:98879
Hepatorenocardiac Degenerative Fibrosis
Hepatic bridging fibrosis, Elevated circulating hepatic transaminase concentration, Hypertrophic ... OMIM:619902
Xfe Progeroid Syndrome
Hypoalbuminemia, Severe short stature, Elevated circulating hepatic transaminase concentration, F... OMIM:610965
O'Donnell-Luria-Rodan Syndrome
Prolonged neonatal jaundice, Vomiting, Cryptorchidism OMIM:618512
Congenital Myopathy 11
Abnormal circulating creatine kinase concentration, Elevated circulating hepatic transaminase con... OMIM:619967
Acute Bilirubin Encephalopathy
Hypoalbuminemia, Neonatal hyperbilirubinemia, Conjunctival icterus, Prolonged neonatal jaundice, ... ORPHA:529799
Chronic Bilirubin Encephalopathy
Hypoalbuminemia, Neonatal hyperbilirubinemia, Conjunctival icterus, Prolonged neonatal jaundice, ... ORPHA:529808
Immunodeficiency 32B
Hypoalbuminemia, Hepatomegaly, Splenomegaly, Failure to thrive OMIM:226990
Congenital Pancreatic Cyst
Jaundice, Vomiting, Pancreatitis ORPHA:313906
Relapsing Fever
Epistaxis, Vomiting, Diarrhea, Elevated circulating hepatic transaminase concentration, Increased... ORPHA:91547
Congenital Disorder Of Glycosylation, Type Iiw
Elevated gamma-glutamyltransferase level, Vomiting, Gastroesophageal reflux, Increased hepatic ec... OMIM:619525
Abetalipoproteinemia
Hypoalbuminemia, Hepatic fibrosis, Vomiting, Hypotriglyceridemia, Elevated circulating hepatic tr... ORPHA:14
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts
Cataract, Cryptorchidism, Neonatal death, Ventricular septal defect, Microphthalmia, Hepatomegaly OMIM:613730
Episodic Ataxia Type 4
Vertigo, Abnormal head movements, Ataxia ORPHA:79136
Deafness, X-Linked 2
Dilatated internal auditory canal, Conductive hearing impairment, Progressive sensorineural heari... OMIM:304400
Alexander Disease
Microcoria OMIM:203450
Rajab Interstitial Lung Disease With Brain Calcifications 1
Hypoalbuminemia, Vomiting, Gastroesophageal reflux, Elevated circulating hepatic transaminase con... OMIM:613658
Persistent Hyperplastic Primary Vitreous
Cataract, Microcornea, Hyaloid vascular remnant and retrolental mass, Persistent pupillary membra... ORPHA:91495
Waardenburg Syndrome, Type 2E
Aplasia of the semicircular canal, Abnormal morphology of the vestibule of the inner ear, Sensori... OMIM:611584
Intellectual Developmental Disorder, Autosomal Recessive 39
Aggressive behavior, Motor stereotypy, Hyperactivity OMIM:615541
Autoimmune Hepatitis
Gastrointestinal hemorrhage, Inflammation of the large intestine, Elevated circulating hepatic tr... ORPHA:2137
Fuchs Heterochromic Iridocyclitis
Cataract, Chorioretinal scar, Corneal keratic precipitates, Iris atrophy, Heterochromia iridis, A... ORPHA:263479
Griscelli Syndrome Type 2
Iris hypopigmentation, Premature graying of hair, Hyperlipidemia, Splenomegaly, Petechiae, Hepato... ORPHA:79477
Fanconi-Bickel Syndrome
Hypouricemia, Intrahepatic cholestasis, Elevated gamma-glutamyltransferase level, Failure to thri... OMIM:227810
Otodental Syndrome
Cataract, Microcornea, Retinal coloboma, Lens coloboma, Iris coloboma ORPHA:2791
Mulibrey Nanism
Astigmatism, Iris coloboma, Corneal dystrophy OMIM:253250
Cirrhotic Cardiomyopathy
Abnormal circulating B-type natriuretic peptide concentration, Conjunctival icterus, Cardiomegaly... ORPHA:57777
Neurodevelopmental Disorder With Microcephaly, Seizures, And Neonatal Cholestasis
Intrahepatic cholestasis, Bilateral cryptorchidism, Elevated circulating aspartate aminotransfera... OMIM:619685
Terminal Osseous Dysplasia-Pigmentary Defects Syndrome
Iris coloboma ORPHA:88630
Congenital Disorder Of Glycosylation, Type Ia
Hypoalbuminemia, Hepatic fibrosis, Depressed nasal bridge, Vomiting, Diarrhea, Elevated circulati... OMIM:212065
Uveal Melanoma
Inferior lens subluxation, Mydriasis, Iris melanoma, Ciliary body melanoma, Zonular cataract ORPHA:39044
Triple A Syndrome
Iris coloboma ORPHA:869
Peroxisome Biogenesis Disorder 5A (Zellweger)
Elevated gamma-glutamyltransferase level, Cholestasis, Hepatosplenomegaly, Cryptorchidism, Elevat... OMIM:614866
Meckel Syndrome, Type 2
Intrauterine growth retardation, Bile duct proliferation, Microphthalmia OMIM:603194
Multiple Acyl-Coa Dehydrogenase Deficiency
Depressed nasal bridge, Vomiting, Elevated circulating glutaric acid concentration, Hepatic perip... OMIM:231680
Amyloidosis Of Gingiva And Conjunctiva With Impaired Intellectual Development
Opacification of the corneal stroma OMIM:204850
Microphthalmia, Isolated, With Cataract 1
Cataract, Microphthalmia OMIM:156850
Frontofacionasal Dysplasia
Cataract, Microcornea, Limbal dermoid, Brushfield spots, Iris coloboma ORPHA:1791
Alagille Syndrome 1
Cholestasis, Axenfeld anomaly, Ventricular septal defect, Posterior embryotoxon, Cirrhosis, Atria... OMIM:118450
Cerebral Autosomal Dominant Arteriopathy-Subcortical Infarcts-Leukoencephalopathy
Transient ischemic attack, Arterial stenosis, Ischemic stroke, Cerebral ischemia, Stroke, Cerebra... ORPHA:136
Primary Lateral Sclerosis, Juvenile
Abnormal upper motor neuron morphology, Pallor OMIM:606353
Meckel Syndrome, Type 5
Bile duct proliferation, Microphthalmia OMIM:611561
Avian Influenza
Hypoalbuminemia, Vomiting, Diarrhea, Elevated circulating hepatic transaminase concentration, Hep... ORPHA:454836
Malaria
Elevated circulating C-reactive protein concentration, Hyperbilirubinemia ORPHA:673
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Pallor ORPHA:46532
Meckel Syndrome, Type 3
Malformation of the hepatic ductal plate, Hepatic fibrosis, Bile duct proliferation, Hepatomegaly OMIM:607361
Congenital Enterocyte Heparan Sulfate Deficiency
Hypoalbuminemia, Hematochezia, Diarrhea, Abnormal circulating protein concentration, Weight loss,... ORPHA:103910
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7
Inappropriate behavior, Disinhibition, Aggressive behavior, Restlessness, Motor stereotypy OMIM:600795
Temtamy Syndrome
Ectopia lentis, Lens luxation, Iris coloboma, Chorioretinal coloboma OMIM:218340
Classic Galactosemia
Cataract, Hepatic failure, Vomiting, Diarrhea, Elevated circulating hepatic transaminase concentr... ORPHA:79239
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3
Chorioretinal dysplasia, Microphthalmia OMIM:616335
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair
Decreased response to growth hormone stimulation test, Cholestasis, Obesity, Hyperbilirubinemia, ... OMIM:609734
Larsen-Like Osseous Dysplasia-Short Stature Syndrome
Corneal opacity ORPHA:2370
Fumarase Deficiency
Intrahepatic cholestasis, Hepatic failure, Conjunctival icterus, Depressed nasal bridge, Failure ... OMIM:606812
Cataract 47
Cataract, Microcornea OMIM:612018
Developmental And Epileptic Encephalopathy 93
Iris coloboma OMIM:618012
Terminal Osseous Dysplasia
Iris coloboma OMIM:300244
Cadds
Cataract, Elevated circulating hepatic transaminase concentration, Cholestasis, Intrauterine grow... ORPHA:369942
Immunodeficiency 90 With Encephalopathy, Functional Hyposplenia, And Hepatic Dysfunction
Hepatic bridging fibrosis, Portal inflammation, Elevated circulating alanine aminotransferase con... OMIM:613759
Pituitary Hormone Deficiency, Combined Or Isolated, 1
Depressed nasal bridge, Failure to thrive, Hypopituitarism, Anteverted nares, Severe postnatal gr... OMIM:613038
Microphthalmia, Syndromic 16
Sclerocornea OMIM:611038
Congenital Enterovirus Infection
Hypoalbuminemia, Hepatic failure, Hepatitis, Cardiomyopathy, Cholestasis, Hyperammonemia, Myocard... ORPHA:292
Familial Thyroid Dyshormonogenesis
Depressed nasal bridge, Neonatal hyperbilirubinemia, Goiter, Abnormal circulating thyroglobulin c... ORPHA:95716
Brittle Cornea Syndrome 2
Keratoconus, Corneal perforation, Megalocornea, Keratoglobus, Sclerocornea, Flat cornea, Decrease... OMIM:614170
Spherocytosis, Type 1
Jaundice, Cholelithiasis, Hyperbilirubinemia, Splenomegaly OMIM:182900
Nephrotic Syndrome, Type 2
Hypoalbuminemia, Hyperlipidemia OMIM:600995
Congenital Primary Aphakia
Corneal perforation, Optic disc coloboma, Aniridia, Aplasia/Hypoplasia affecting the anterior seg... ORPHA:83461
Cranioectodermal Dysplasia 2
Wide nasal bridge, Depressed nasal bridge, Rhizomelia, Portal fibrosis, Elevated circulating hepa... OMIM:613610
Deaf Blind Hypopigmentation Syndrome, Yemenite Type
Iris hypopigmentation, Microcornea, Iris coloboma, Anterior synechiae of the anterior chamber ORPHA:3214
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease
Elevated gamma-glutamyltransferase level, Elevated circulating creatinine concentration, Situs in... OMIM:613095
Phacoanaphylactic Uveitis
Posterior uveitis, Anterior chamber flare grade 1+, Panuveitis, Hypopyon, Posterior synechiae of ... ORPHA:209959
Usher Syndrome Type 3
Abnormal cochlea morphology, Vestibular hypofunction, Ataxia, Sensorineural hearing impairment ORPHA:231183
Inflammatory Pseudotumor Of The Liver
Vomiting, Elevated circulating aspartate aminotransferase concentration, Biliary tract abnormalit... ORPHA:90003
Short Stature, Developmental Delay, And Congenital Heart Defects