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

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

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
Exocrine pancreatic insufficiency, Long nose, Hepatic failure, Cholestasis, Reduced number of int... 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
Vocal cord paresis, Impaired pain sensation, Polyminimyoclonus, Fasciculations, Impaired temperat... 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
Pupillary Membrane, Persistence Of
Developmental cataract, Megalocornea, Persistent pupillary membrane OMIM:178900
Deafness, Autosomal Recessive 109
Congenital sensorineural hearing impairment, Morphological abnormality of the semicircular canal OMIM:618013
Congenital Corneal Opacities, Cornea Guttata, And Corectopia
Corneal opacity, Ectopia pupillae OMIM:608484
Corneal Dystrophy, Posterior Amorphous
Iris coloboma, Ectopia pupillae, Corneal dystrophy OMIM:612868
Anterior Segment Dysgenesis 3
Posterior embryotoxon, Peters anomaly, Abnormal iris vasculature, Ectopia pupillae, Rieger anomal... OMIM:601631
Cataract-Microcornea Syndrome
Corneal dystrophy, Microcornea, Cataract, Corneal opacity, Iris coloboma ORPHA:1377
Chorea, Childhood-Onset, With Psychomotor Retardation
Abnormal head movements, Involuntary movements, Chorea OMIM:616939
Anterior Segment Dysgenesis 8
Uveal ectropion, Iridodonesis, Persistent pupillary membrane, Hypoplasia of the iris, Cataract, I... OMIM:617319
Neuropathy, Hereditary Sensory, Atypical
Babinski sign, Sensory ataxia, Ataxia OMIM:256860
X-Linked Corneal Dermoid
Abnormal pupil morphology, Corneal opacity ORPHA:1661
Corneal Dystrophy, Posterior Polymorphous, 2
Corneal opacity, Corneal dystrophy OMIM:609140
Corneal Dystrophy, Endothelial, X-Linked
Band keratopathy, Corneal opacity, Corneal dystrophy OMIM:300779
Deafness, Autosomal Recessive 4, With Enlarged Vestibular Aqueduct
Enlarged vestibular aqueduct, Sensorineural hearing impairment, Incomplete partition of the cochl... OMIM:600791
Iris Pigment Epithelium Anomalies
Iris cyst OMIM:601616
Corneal Dystrophy, Posterior Polymorphous, 4
Ectopia pupillae OMIM:618031
Microphthalmia, Isolated, With Coloboma 10
Chorioretinal coloboma, Microcoria, Iris coloboma OMIM:616428
Microphthalmia, Isolated, With Coloboma 3
Cataract, Iris coloboma OMIM:610092
Ectopia Pupillae
Ectopia pupillae OMIM:129750
Deafness, Autosomal Recessive 108
Iris coloboma OMIM:617654
Loose Anagen Syndrome
Iris coloboma ORPHA:168
Spondyloepiphyseal Dysplasia With Punctate Corneal Dystrophy
Punctate corneal dystrophy OMIM:183850
Megalocornea
Megalocornea OMIM:249300
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
Corneal Dystrophy, Fuchs Endothelial, 8
Corneal dystrophy OMIM:615523
Corneal Degeneration, Band-Shaped Spheroid
Corneal degeneration OMIM:217520
Corneal Dystrophy, Posterior Polymorphous, 1
Band keratopathy, Polymorphous posterior corneal dystrophy, Anterior synechiae of the anterior ch... OMIM:122000
Microphthalmia, Isolated, With Corectopia
Ectopia pupillae OMIM:156900
Cataract 21, Multiple Types
Microcornea, Iris coloboma, Cortical pulverulent cataract, Cerulean cataract OMIM:610202
Corneal Dystrophy, Subepithelial Mucinous
Corneal dystrophy OMIM:612867
Posterior Column Ataxia
Ataxia, Impaired proprioception, Impaired vibratory sensation OMIM:176250
Deafness, Autosomal Dominant 80
Dilated vestibule of the inner ear, Congenital sensorineural hearing impairment, Cochlear aplasia... OMIM:619274
Yemenite Deaf-Blind Hypopigmentation Syndrome
Chorioretinal coloboma, Microcornea, Iris coloboma OMIM:601706
Corneal Dystrophy-Perceptive Deafness Syndrome
Corneal opacity, Corneal dystrophy ORPHA:1490
Cataract 9, Multiple Types
Developmental cataract, Microcornea, Cataract, Progressive cataract, Iris coloboma OMIM:604219
Iridocorneal Endothelial Syndrome
Polycoria, Central heterochromia, Anterior synechiae of the anterior chamber, Heterochromia iridi... ORPHA:64734
Deafness, X-Linked 6
Hearing impairment, Cochlear malformation OMIM:300914
Biemond Syndrome Ii
Iris coloboma OMIM:210350
Glaucoma 3, Primary Congenital, D
Corneal opacity, Ectopia lentis, Primary congenital glaucoma OMIM:613086
Posterior Polymorphous Corneal Dystrophy
Anterior synechiae of the anterior chamber, Increased corneal curvature, Uveal ectropion, Abnorma... ORPHA:98973
Aneurysm, Intracranial Berry, 1
Dilatation of the cerebral artery, Intracranial hemorrhage OMIM:105800
Aneurysm, Intracranial Berry, 2
Cerebral berry aneurysm, Subarachnoid hemorrhage OMIM:608542
Central Cloudy Dystrophy Of Francois
Corneal dystrophy, Central corneal dystrophy OMIM:217600
Schnyder Corneal Dystrophy
Crystalline corneal dystrophy, Corneal dystrophy OMIM:121800
Corneal Dystrophy, Groenouw Type I
Punctate corneal dystrophy, Granular corneal dystrophy, Nodular corneal dystrophy, Cataract OMIM:121900
Klippel-Feil Syndrome 3, Autosomal Dominant
Chorioretinal coloboma, Iris coloboma OMIM:613702
Internal Carotid Absence
Cerebral ischemia, Dilatation of the cerebral artery, Subarachnoid hemorrhage ORPHA:981
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Microvesicular hepatic steatosis, Hepatic failure, Intrauterine growth retardation, Cholestasis, ... OMIM:617156
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome
Chorioretinal coloboma, Microcornea, Remnants of the hyaloid vascular system, Posterior lenticonu... ORPHA:231736
Ectopia Lentis Et Pupillae
Cataract, Ectopia lentis, Persistent pupillary membrane OMIM:225200
Keratitis, Hereditary
Opacification of the corneal stroma, Keratitis OMIM:148190
Isolated Ectopia Lentis
Cataract, Ectopia pupillae, Ectopia lentis ORPHA:1885
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Cataract, Corneal opacity, Aplasia/Hypoplasia of the iris, Persistent pupillary membrane ORPHA:1067
Triokinase And Fmn Cyclase Deficiency Syndrome
Dilated cardiomyopathy, Hepatic steatosis, Elevated circulating alanine aminotransferase concentr... OMIM:618805
Microtia-Eye Coloboma-Imperforation Of The Nasolacrimal Duct Syndrome
Iris coloboma ORPHA:139450
Primary Dystonia, Dyt13 Type
Action tremor, Motor stereotypy, Involuntary movements, Torticollis, Postural tremor, Jerky head ... ORPHA:98807
Aneurysm, Intracranial Berry, 12
Cerebral berry aneurysm, Subarachnoid hemorrhage, Fusiform cerebral aneurysm OMIM:618734
Morquio Syndrome C
Corneal opacity OMIM:252300
Kahrizi Syndrome
Cataract, Iris coloboma OMIM:612713
Retinal Dystrophy, Iris Coloboma, And Comedogenic Acne Syndrome
Microcornea, Iris coloboma OMIM:615147
Corneal Degeneration, Ribbonlike, With Deafness
Band keratopathy, Ribbonlike corneal degeneration OMIM:121450
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis
Coloboma, Ocular anterior segment dysgenesis, Iris coloboma, Peters anomaly OMIM:610023
Hypermethioninemia Due To Adenosine Kinase Deficiency
Hepatic steatosis, Cholestasis, Atrial septal defect, Hypermethioninemia, Decreased liver functio... OMIM:614300
Edinburgh Malformation Syndrome
Neonatal hyperbilirubinemia, Failure to thrive, Jaundice OMIM:129850
Spinocerebellar Degeneration-Corneal Dystrophy Syndrome
Corneal opacity, Corneal dystrophy ORPHA:3177
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome
Sclerocornea, Microcornea, Cataract, Coloboma, Ectopia pupillae OMIM:615877
Biliary Atresia, Extrahepatic
Bile duct proliferation, Atretic gallbladder, Hepatomegaly, Jaundice, Extrahepatic biliary duct a... OMIM:210500
Intellectual Disability-Cataracts-Kyphosis Syndrome
Cataract, Iris coloboma ORPHA:171860
Cornea Plana 1, Autosomal Dominant
Flat cornea OMIM:121400
Spinocerebellar Ataxia, Autosomal Recessive 3
Cochlear degeneration, Ataxia, Hearing impairment OMIM:271250
Corneal Dystrophy, Epithelial Basement Membrane
Map-dot-fingerprint corneal dystrophy, Recurrent corneal erosions, Corneal dystrophy OMIM:121820
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Chorioretinal coloboma, Posterior embryotoxon, Cataract, Corneal opacity, Iris coloboma ORPHA:1473
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy
Chorioretinal coloboma, Cataract, Iris coloboma OMIM:212550
Galactosemia Iv
Hypergalactosemia, Cataract, Prolonged neonatal jaundice OMIM:618881
Exfoliation Syndrome
Pseudoexfoliation, Abnormality of the lens, Cataract, Phakodonesis, Lens subluxation, Iris hypope... OMIM:177650
Crigler-Najjar Syndrome Type 1
Abnormality of the liver, Prolonged neonatal jaundice, Biliary tract abnormality, Neonatal hyperb... ORPHA:79234
Rotor Syndrome
Conjugated hyperbilirubinemia, Jaundice, Abnormal enzyme/coenzyme activity, Intermittent jaundice... ORPHA:3111
Cochleosaccular Degeneration-Cataract Syndrome
Progressive sensorineural hearing impairment, Cochlear degeneration, Ataxia ORPHA:3233
Galactosialidosis
Corneal opacity ORPHA:351
Cat-Eye Syndrome (Type I)
Iris coloboma DECIPHER:42
Galactosemia Ii
Hypergalactosemia, Cataract, Prolonged neonatal jaundice OMIM:230200
Peroxisome Biogenesis Disorder 8A (Zellweger)
Elevated circulating aspartate aminotransferase concentration, Cataract, Hepatomegaly, Jaundice, ... OMIM:614876
Macular Dystrophy, Corneal
Recurrent corneal erosions, Corneal dystrophy, Punctate opacification of the cornea OMIM:217800
Microphthalmia, Isolated, With Coloboma 5
Chorioretinal coloboma, Iris coloboma OMIM:611638
Corneal Dystrophy, Lattice Type I
Lattice corneal dystrophy, Recurrent corneal erosions OMIM:122200
Episodic Kinesigenic Dyskinesia 2
Paroxysmal dyskinesia, Involuntary movements, Chorea OMIM:611031
Cholestasis, Progressive Familial Intrahepatic, 8
Elevated alpha-fetoprotein, Sclerosing cholangitis, Portal hypertension, Elevated circulating ala... OMIM:619662
Axenfeld-Rieger Syndrome, Type 3
Posterior embryotoxon, Ectopia pupillae, Hypoplasia of the iris OMIM:602482
Mucous Membrane Pemphigoid
Corneal opacity ORPHA:46486
Dubin-Johnson Syndrome
Biliary tract abnormality, Jaundice, Conjugated hyperbilirubinemia OMIM:237500
Thiel-Behnke Corneal Dystrophy
Subepithelial corneal opacities, Astigmatism, Central corneal dystrophy, Opacification of the cor... ORPHA:98960
Retinal Dystrophy And Iris Coloboma With Or Without Congenital Cataract
Developmental cataract, Iris coloboma, Posterior synechiae of the anterior chamber OMIM:616722
Spinocerebellar Ataxia Type 23
Dysmetria, Impaired proprioception, Gait ataxia, Progressive cerebellar ataxia, Impaired distal v... ORPHA:101108
Cog7-Cdg
Hepatosplenomegaly, Small for gestational age, Hepatomegaly, Jaundice, Elevated circulating creat... ORPHA:79333
Familial Pterygium Of The Conjunctiva
Opacification of the corneal stroma ORPHA:2989
Microphthalmia, Isolated 2
Opacification of the corneal stroma OMIM:610093
Cerebral Cavernous Malformations 2
Cerebral cavernous malformation, Telangiectasia, Stroke, Cerebral hemorrhage OMIM:603284
Corneal Dystrophy And Perceptive Deafness
Opacification of the corneal stroma, Corneal dystrophy OMIM:217400
Cerebral Amyloid Angiopathy, Cst3-Related
Cerebral hemorrhage, Intracranial hemorrhage, Stroke OMIM:105150
Liver Failure, Infantile, Transient
Microvesicular hepatic steatosis, Hepatomegaly, Jaundice, Acute hepatic failure, Hyperbilirubinem... OMIM:613070
Facial Spasm
Anisocoria OMIM:134300
Tremor, Hereditary Essential, 1
Postural tremor, Hand tremor, Action tremor OMIM:190300
Congenital Bile Acid Synthesis Defect Type 3
Elevated circulating alanine aminotransferase concentration, Hepatic failure, Hepatosplenomegaly,... ORPHA:79302
Macrosomia-Microphthalmia-Cleft Palate Syndrome
Microcornea, Corneal opacity ORPHA:2432
Congenital Bile Acid Synthesis Defect Type 2
Hepatic steatosis, Hepatic failure, Increased circulating lactate dehydrogenase concentration, Ch... ORPHA:79303
Congenital Disorder Of Glycosylation, Type Ih
Intrauterine growth retardation, Cholestasis, Cryptorchidism, Vomiting, Decreased liver function,... OMIM:608104
Developmental And Epileptic Encephalopathy 97
Stereotypical hand wringing, Tremor OMIM:619561
Tremor, Hereditary Essential, 5
Kinetic tremor, Postural tremor, Tongue tremor, Intention tremor OMIM:616736
Tremor, Hereditary Essential, 6
Kinetic tremor, Head tremor, Vocal tremor, Postural tremor OMIM:618866
Hyperbilirubinemia, Transient Familial Neonatal
Jaundice, Neonatal unconjugated hyperbilirubinemia OMIM:237900
Preaxial Polydactyly-Colobomata-Intellectual Disability Syndrome
Chorioretinal coloboma, Iris coloboma, Retinal coloboma ORPHA:2921
Anisocoria
Anisocoria OMIM:106240
Cerebral Cavernous Malformations
Cerebral cavernous malformation, Intracranial hemorrhage OMIM:116860
Lattice Corneal Dystrophy Type I
Abnormal cornea morphology, Corneal scarring, Subepithelial corneal opacities, Astigmatism, Corne... ORPHA:98964
Aniridia 1
Anterior subcapsular cataract, Hypoplasia of the iris, Cataract, Chorioretinal hypopigmentation, ... OMIM:106210
Opticocochleodentate Degeneration
Hearing impairment, Cochlear degeneration, Optic atrophy, Spastic tetraplegia OMIM:258700
Neonatal Hemochromatosis
Increased circulating ferritin concentration, Prolonged neonatal jaundice, Congenital hepatic fib... ORPHA:446
Ring Dermoid Of Cornea
Abnormal cornea morphology, Abnormal conjunctiva morphology, Conjunctival dermolipoma, Abnormalit... OMIM:180550
Anterior Segment Dysgenesis 6
Developmental glaucoma, Abnormal Descemet membrane morphology, Corneal opacity, Posterior synechi... OMIM:617315
Bile Acid Synthesis Defect, Congenital, 5
Hepatic failure, Portal hypertension, Increased serum bile acid concentration, Splenomegaly, Hepa... OMIM:616278
Bile Acid Synthesis Defect, Congenital, 2
Hepatic failure, Splenomegaly, Hepatomegaly, Jaundice, Intrahepatic cholestasis, Failure to thriv... OMIM:235555
Parenteral Nutrition-Associated Cholestasis
Cholelithiasis, Hepatic steatosis, Hepatic failure, Portal hypertension, Hyperlipidemia, Small fo... ORPHA:567983
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Increased circulating lactate dehydrogenase concentration, Gastrointestinal hemorrhage, Cholestas... ORPHA:247598
Crigler-Najjar Syndrome Type 2
Neonatal hyperbilirubinemia, Prolonged neonatal jaundice, Unconjugated hyperbilirubinemia ORPHA:79235
Spinocerebellar Degeneration And Corneal Dystrophy
Opacification of the corneal stroma, Corneal dystrophy OMIM:271310
Isolated Biliary Atresia
Periportal fibrosis, Cholestasis, Bile duct proliferation, Hypopituitarism, Atretic gallbladder, ... ORPHA:30391
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Hepatic steatosis, Hepatic failure, Portal hypertension, Periportal fibrosis, Splenomegaly, Deple... OMIM:251880
Galactosemia Iii
Hypergalactosemia, Splenomegaly, Hepatomegaly, Jaundice, Failure to thrive, Vomiting OMIM:230350
Microcoria, Congenital
Hypoplasia of the iris dilator muscle, Microcoria OMIM:156600
Hepatic Veno-Occlusive Disease
Hepatomegaly, Jaundice, Elevated hepatic transaminase, Increased total bilirubin, Increased body ... ORPHA:890
Coloboma, Ocular, Autosomal Recessive
Retinal coloboma, Cataract, Lens subluxation, Optic disc coloboma, Iris coloboma OMIM:216820
Autosomal Dominant Spastic Ataxia Type 1
Hypertonia, Spastic gait, Impaired proprioception, Spastic dysarthria, Spastic paraplegia, Impair... ORPHA:251282
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss
Elevated circulating gamma-aminobutyric acid concentration, Elevated circulating alanine aminotra... OMIM:619658
Megalocornea
Corneal arcus, Iridodonesis, Cataract, Astigmatism, Lens subluxation, Mosaic corneal dystrophy, D... OMIM:309300
Bile Acid Synthesis Defect, Congenital, 1
Hepatic failure, Splenomegaly, Hepatomegaly, Jaundice, Intrahepatic cholestasis, Giant cell hepat... OMIM:607765
Abetal34V Amyloidosis
Cerebral hemorrhage, Stroke, Abnormal cerebral vascular morphology ORPHA:324703
Citrullinemia, Type Ii, Neonatal-Onset
Hypercholesterolemia, Elevated plasma citrulline, Hypermethioninemia, Growth delay, Intrahepatic ... OMIM:605814
Ocular Motor Apraxia
Oculomotor apraxia, Jerky head movements OMIM:257550
Peroxisome Biogenesis Disorder 12A (Zellweger)
Cholelithiasis, Hepatic failure, Decreased body weight, Atrial septal defect, Wide nasal bridge, ... OMIM:614886
Congenital Bile Acid Synthesis Defect Type 1
Gastrointestinal hemorrhage, Splenomegaly, Hepatomegaly, Jaundice, Failure to thrive, Biliary tra... ORPHA:79301
Congenital Disorder Of Glycosylation, Type Iio
Hepatic failure, Hepatosplenomegaly, Hypercholesterolemia, Elevated alkaline phosphatase of bone ... OMIM:616828
Tremor, Hereditary Essential, 4
Postural tremor, Action tremor OMIM:614782
Hyperbilirubinemia, Rotor Type
Conjugated hyperbilirubinemia, Jaundice OMIM:237450
Glycine N-Methyltransferase Deficiency
Hepatomegaly, Hypermethioninemia, Elevated hepatic transaminase OMIM:606664
Cholestasis-Lymphedema Syndrome
Hyperlipidemia, Splenomegaly, Hepatomegaly, Jaundice, Conjugated hyperbilirubinemia, Elevated hep... OMIM:214900
Corneal Dystrophy, Reis-Bucklers Type
Opacification of the corneal stroma, Corneal opacity, Corneal erosion, Corneal dystrophy OMIM:608470
Bile Acid Synthesis Defect, Congenital, 4
Hepatic failure, Hepatomegaly, Intrahepatic cholestasis, Giant cell hepatitis, Prolonged neonatal... OMIM:214950
Congenital Disorder Of Glycosylation, Type Ib
Hepatic failure, Hepatomegaly, Failure to thrive, Hypoalbuminemia, Cirrhosis, Hepatic fibrosis, D... OMIM:602579
Circumvallate Placenta Syndrome
Intracranial hemorrhage OMIM:215550
Alg6-Cdg
Abnormality of the liver, Jaundice, Abnormal enzyme/coenzyme activity, Failure to thrive, Hypoalb... ORPHA:79320
Galactose Epimerase Deficiency
Cataract, Splenomegaly, Growth delay, Hepatomegaly, Jaundice, Weight loss ORPHA:79238
Jaundice, Familial Obstructive, Of Infancy
Neonatal hyperbilirubinemia, Jaundice OMIM:308600
Crigler-Najjar Syndrome, Type Ii
Unconjugated hyperbilirubinemia, Jaundice OMIM:606785
Hyperbilirubinemia, Conjugated, Type Iii
Conjugated hyperbilirubinemia, Jaundice OMIM:237550
Mpi-Cdg
Portal hypertension, Gastrointestinal hemorrhage, Decreased liver function, Hepatomegaly, Abnorma... ORPHA:79319
Progressive Familial Intrahepatic Cholestasis
Cholestasis, Hypocalcemia, Splenomegaly, Hepatomegaly, Jaundice, Failure to thrive, Short stature ORPHA:172
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)
Hepatic failure, Cholestasis, Hepatomegaly, Jaundice, Elevated hepatic transaminase, Increased to... OMIM:618528
Glycogen Storage Disease Ixc
Bile duct proliferation, Increased hepatic glycogen content, Splenomegaly, Hepatomegaly, Growth d... OMIM:613027
Crigler-Najjar Syndrome, Type I
Unconjugated hyperbilirubinemia, Jaundice OMIM:218800
Blepharoptosis-Myopia-Ectopia Lentis Syndrome
Iris coloboma, Ectopia lentis ORPHA:1259
Corneal Endothelial Dystrophy
Congenital corneal dystrophy, Increased corneal thickness, Opacification of the corneal stroma, A... OMIM:217700
Wolcott-Rallison Syndrome
Exocrine pancreatic insufficiency, Abnormality of the liver, Hyponatremia, Decreased body weight,... ORPHA:1667
Lambert Syndrome
Intrahepatic biliary atresia, Intrauterine growth retardation, Failure to thrive in infancy, Chol... ORPHA:1296
X-Linked Endothelial Corneal Dystrophy
Band keratopathy, Abnormal corneal endothelium morphology, Corneal opacity, Nuclear cataract ORPHA:293621
Corneal Hypesthesia, Familial
Recurrent corneal erosions OMIM:122450
Cholestasis, Progressive Familial Intrahepatic, 6
Bruising susceptibility, Periportal fibrosis, Elevated gamma-glutamyltransferase level, Conjugate... OMIM:619484
Heterochromia Iridis
Heterochromia iridis, Asymmetry of iris pigmentation OMIM:142500
Cholestasis, Progressive Familial Intrahepatic, 1
Cholelithiasis, Intrahepatic cholestasis with episodic jaundice, Splenomegaly, Hepatomegaly, Jaun... OMIM:211600
Cholestasis, Progressive Familial Intrahepatic, 3
Bile duct proliferation, Splenomegaly, Hepatomegaly, Jaundice, Intrahepatic cholestasis, Portal f... OMIM:602347
Peters Anomaly
Subcapsular cataract, Anterior synechiae of the anterior chamber, Developmental glaucoma, Peters ... ORPHA:708
Congenital Factor V Deficiency
Persistent bleeding after trauma, Bruising susceptibility, Hematochezia, Spontaneous hematomas, G... ORPHA:326
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Shallow anterior chamber, Uveitis, Persistent pupillary membrane, Microcornea, Cataract, Corneal ... OMIM:221900
Hyperbilirubinemia, Shunt, Primary
Hyperbilirubinemia, Splenomegaly, Hepatomegaly, Jaundice OMIM:237800
Cholestasis, Progressive Familial Intrahepatic, 2
Splenomegaly, Hepatomegaly, Conjugated hyperbilirubinemia, Intrahepatic cholestasis, Failure to t... OMIM:601847
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair
Gonadotropin deficiency, Cholestasis, Obesity, Adrenocorticotropic hormone deficiency, Hyperbilir... OMIM:609734
Hypercholanemia, Familial, 2
Prolonged neonatal jaundice, Increased serum bile acid concentration OMIM:619256
Ophthalmoplegia, Familial Static
Anisocoria OMIM:165000
Combined Oxidative Phosphorylation Deficiency 37
Chorioretinal hyperpigmentation, Elevated gamma-glutamyltransferase level, Bile duct proliferatio... OMIM:618329
Factor Xiii, A Subunit, Deficiency Of
Persistent bleeding after trauma, Bruising susceptibility, Abnormal umbilical stump bleeding, Ecc... OMIM:613225
Spastic Ataxia 2, Autosomal Recessive
Frequent falls, Dysmetria, Fasciculations, Gait ataxia, Spasticity, Head titubation, Babinski sig... OMIM:611302
Arthrogryposis, Renal Dysfunction, And Cholestasis 2
Right ventricular hypertrophy, Conjugated hyperbilirubinemia, Jaundice, Giant cell hepatitis, Fai... OMIM:613404
Charcot-Marie-Tooth Disease Type 1B
Abnormal pupil morphology ORPHA:101082
Cerebral Cavernous Malformations 3
Cerebral cavernous malformation, Cerebral hemorrhage OMIM:603285
Winchester Syndrome
Corneal opacity OMIM:277950
Benign Paroxysmal Torticollis Of Infancy
Torticollis, Abnormal head movements, Ataxia ORPHA:71518
Pendred Syndrome
Sensorineural hearing impairment, Hypoplasia of the cochlea, Ataxia, Abnormality of the inner ear... ORPHA:705
Congenital Rubella Syndrome
Intrauterine growth retardation, Atrial septal defect, Cataract, Corneal opacity, Splenomegaly, H... ORPHA:290
Congenital Toxoplasmosis
Intrauterine growth retardation, Failure to thrive in infancy, Hepatomegaly, Jaundice, Microphtha... ORPHA:858
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Right ventricular hypertrophy, Atrial septal defect, Conjugated hyperbilirubinemia, Jaundice, Gia... OMIM:208085
Chorea, Benign Familial
Chorea OMIM:215450
Hepatoportal Sclerosis
Intrahepatic portal vein sclerosis, Portal hypertension, Gastrointestinal hemorrhage, Periportal ... ORPHA:64743
Intellectual Developmental Disorder, X-Linked 109
Stereotypical body rocking, Poor coordination, Recurrent hand flapping OMIM:309548
Corneal Dystrophy, Fuchs Endothelial, 1
Descemet Membrane Folds, Corneal dystrophy, Corneal guttata, Corneal stromal edema, Corneal degen... OMIM:136800
Cholangiocarcinoma
Acholic stools, Biliary tract neoplasm, Jaundice ORPHA:70567
Red Cell Phospholipid Defect With Hemolysis
Intermittent jaundice, Splenomegaly, Hyperbilirubinemia OMIM:179700
Mitochondrial Complex Iii Deficiency, Nuclear Type 5
Elevated circulating suberic acid concentration, Elevated circulating fumarate concentration, Sma... OMIM:615160
Cystic Echinococcosis
Abnormality of the testis size, Weight loss, Abnormality of the pancreas, Biliary tract obstructi... ORPHA:400
Bilateral Striopallidodentate Calcinosis
Corneal opacity ORPHA:1980
Fraxe Intellectual Disability
Stereotypical body rocking, Clumsiness, Recurrent hand flapping ORPHA:100973
Humero-Radial Synostosis
Chorioretinal coloboma, Iris coloboma ORPHA:3265
Glanzmann Thrombasthenia 1
Bruising susceptibility, Gastrointestinal hemorrhage, Purpura, Menorrhagia, Gingival bleeding, Pr... OMIM:273800
X-Linked Intellectual Disability-Retinitis Pigmentosa Syndrome
Iris hypopigmentation ORPHA:85332
Caroli Disease
Biliary cirrhosis, Nausea, Cholestasis, Cholangitis, Elevated gamma-glutamyltransferase level, In... ORPHA:53035
Cat-Eye Syndrome
Chorioretinal coloboma, Iris coloboma ORPHA:195
Isolated Polycystic Liver Disease
Gastrointestinal hemorrhage, Abnormality of the pancreas, Polycystic liver disease, Gastroesophag... ORPHA:2924
Microspherophakia And/Or Megalocornea, With Ectopia Lentis And With Or Without Secondary Glaucoma
Iridodonesis, Deep anterior chamber, Microspherophakia, Megalocornea, Ectopia lentis OMIM:251750
Distal Monosomy 6P
Anterior synechiae of the anterior chamber, Abnormal anterior chamber morphology, Hypoplasia of t... ORPHA:96125
Abruzzo-Erickson Syndrome
Chorioretinal coloboma, Microcornea, Iris coloboma, Coloboma ORPHA:921
Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract
Microcornea, Cataract, Aniridia OMIM:106230
S-Adenosylhomocysteine Hydrolase Deficiency
Hyperhomocystinemia, Abnormality of the liver, Hypermethioninemia, Growth delay, Elevated circula... ORPHA:88618
Hemochromatosis, Neonatal
Increased circulating ferritin concentration, Hepatic failure, Intrauterine growth retardation, C... OMIM:231100
Immune Thrombocytopenia
Bruising susceptibility, Petechiae, Gastrointestinal hemorrhage, Gingival bleeding, Cerebral hemo... ORPHA:3002
Familial Cervical Artery Dissection
Stroke, Dilatation of the cerebral artery, Transient ischemic attack, Hypertension, Cerebral isch... ORPHA:36382
Granular Corneal Dystrophy Type Ii
Subepithelial corneal opacities, Granular corneal dystrophy, Corneal crystals, Central opacificat... ORPHA:98963
Anterior Segment Dysgenesis 2
Sclerocornea, Microcornea, Cataract, Congenital aphakia, Peters anomaly, Anterior segment of eye ... OMIM:610256
Reversible Cerebral Vasoconstriction Syndrome
Vasospasm, Cerebral hemorrhage, Subarachnoid hemorrhage, Dilatation of the cerebral artery, Trans... ORPHA:284388
Congenital Hereditary Endothelial Dystrophy Type Ii
Irregular astigmatism, Increased corneal thickness, Abnormal Descemet membrane morphology, Cornea... ORPHA:293603
Benign Recurrent Intrahepatic Cholestasis
Cholelithiasis, Chronic diarrhea, Jaundice, Elevated hepatic transaminase, Cholestatic liver dise... ORPHA:65682
Coats Disease
Leukocoria OMIM:300216
Stickler Syndrome Type 2
Cataract, Corneal opacity ORPHA:90654
Neurodevelopmental Disorder With Hypotonia And Autistic Features With Or Without Hyperkinetic Movements
Stereotypical hand wringing, Chorea OMIM:618760
Anterior Segment Dysgenesis 5
Anterior synechiae of the anterior chamber, Developmental cataract, Hypoplasia of the iris, Poste... OMIM:604229
+173470 integrin, beta-3
Bruising susceptibility, Gastrointestinal hemorrhage, Purpura, Menorrhagia, Gingival bleeding, Ab... OMIM:173470
Bile Acid Conjugation Defect 1
Elevated circulating alanine aminotransferase concentration, Hepatic failure, Elevated circulatin... OMIM:619232
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Dilated cardiomyopathy, Hepatic failure, Portal hypertension, Hepatosplenomegaly, Decreased liver... ORPHA:367
Factor Vii Deficiency
Menorrhagia, Joint hemorrhage, Abnormal bleeding, Intracranial hemorrhage, Epistaxis OMIM:227500
Gilbert Syndrome
Unconjugated hyperbilirubinemia, Jaundice OMIM:143500
Caroli Syndrome
Hepatic failure, Cholangitis, Intrahepatic cholestasis, Hyperbilirubinemia, Hematemesis, Pancreat... ORPHA:480520
Woolly Hair
Abnormal pupil morphology, Cataract ORPHA:170
Galactosemia
Hypergalactosemia, Hepatic failure, Cryptorchidism, Cataract, Hepatomegaly, Jaundice, Abnormal en... ORPHA:352
Episodic Ataxia Type 4
Incoordination, Frequent falls, Abnormal head movements, Ataxia ORPHA:79136
X-Linked Recessive Ocular Albinism
Abnormal pupil morphology, Astigmatism, Ocular albinism, Iris hypopigmentation ORPHA:54
Weill-Marchesani Syndrome 4
Phakodonesis, Ectopia lentis, Iridodonesis OMIM:613195
Acute Peripheral Arterial Occlusion
Abnormal capillary physiology, Absent ankle pulse, Myocardial infarction, Abnormality of venous p... ORPHA:90064
Severe Intellectual Disability-Progressive Postnatal Microcephaly-Midline Stereotypic Hand Movements Syndrome
Stereotypical hand wringing, Macrotia, Hyperkinetic movements ORPHA:397933
Myopathy, Tubular Aggregate, 1
Abnormal pupil morphology OMIM:160565
Corneal Dystrophy, Meesmann, 1
Corneal dystrophy, Punctate opacification of the cornea OMIM:122100
Rajab Interstitial Lung Disease With Brain Calcifications 2
Hepatic steatosis, Hepatosplenomegaly, Hypopituitarism, Short stature, Elevated hepatic transamin... OMIM:619013
Abeta Amyloidosis, Italian Type
Cerebral hemorrhage, Stroke ORPHA:324713
Autosomal Dominant Keratitis
Microcornea, Cataract, Coloboma, Aniridia, Abnormality of the corneal limbus, Hypoplastic iris st... ORPHA:2334
Trichohepatoenteric Syndrome 1
Hepatic failure, Cholestasis, Abnormality of iron homeostasis, Ventricular septal defect, Diarrhe... OMIM:222470
Autoinflammation With Infantile Enterocolitis
Increased circulating ferritin concentration, Splenomegaly, Elevated circulating C-reactive prote... OMIM:616050
Microphthalmia, Isolated, With Coloboma 9
Sclerocornea, Microcornea, Iris coloboma, Ocular anterior segment dysgenesis OMIM:615145
Pituitary Hormone Deficiency, Combined Or Isolated, 1
Severe postnatal growth retardation, Jaundice, Depressed nasal bridge, Short stature, Prolonged n... OMIM:613038
Diarrhea 7, Protein-Losing Enteropathy Type
Hyperlipidemia, Hypercholesterolemia, Failure to thrive, Hypoalbuminemia, Diarrhea, Vomiting OMIM:615863
Congenital Factor Ii Deficiency
Abnormal umbilical stump bleeding, Epistaxis, Oral cavity bleeding, Prolonged bleeding following ... ORPHA:325
Citrullinemia Type Ii
Hepatic steatosis, Hypoproteinemia, Hyperlipidemia, Delayed menarche, Hypercholesterolemia, Vomit... ORPHA:247585
Leishmaniasis
Splenomegaly, Hepatomegaly, Rhinitis, Elevated hepatic transaminase, Hypoalbuminemia, Weight loss ORPHA:507
Cleft, Median, Of Upper Lip With Polyps Of Facial Skin And Nasal Mucosa
Iris coloboma OMIM:155145
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Colitis, Cardiomegaly, Obesity, Hypoalbuminemia ORPHA:88643
Anterior Segment Dysgenesis 7
Sclerocornea, Microcornea, Cataract, Ocular anterior segment dysgenesis, Buphthalmos OMIM:269400
Congenital Factor Vii Deficiency
Epistaxis, Bruising susceptibility, Gastrointestinal hemorrhage, Menorrhagia, Gingival bleeding, ... ORPHA:327
Ichthyosis, X-Linked
Opacification of the corneal stroma OMIM:308100
Bile Acid Synthesis Defect, Congenital, 3
Hepatic failure, Splenomegaly, Hepatomegaly, Jaundice, Intrahepatic cholestasis, Failure to thriv... OMIM:613812
Meckel Syndrome, Type 4
Intrauterine growth retardation, Bile duct proliferation, Atrial septal defect, Microphthalmia, V... OMIM:611134
Abeta Amyloidosis, Iowa Type
Cerebral hemorrhage, Stroke, Abnormal cerebral vascular morphology ORPHA:324708
Glycogen Storage Disease Vi
Hyperlipidemia, Failure to thrive in infancy, Hypercholesterolemia, Increased hepatic glycogen co... OMIM:232700
Keratoendotheliitis Fugax Hereditaria
Opacification of the corneal stroma, Conjunctival hyperemia, Keratitis OMIM:148200
Alg1-Cdg
Decreased liver function, Chronic diarrhea, Abnormal heart morphology, Cardiomyopathy, Hypoalbumi... ORPHA:79327
Bilateral Acute Depigmentation Of The Iris
Abnormal iris pigmentation, Abnormal anterior chamber morphology, Iris pigment dispersion, Abnorm... ORPHA:69736
Mirizzi Syndrome
Cholelithiasis, Nausea, Cholesterol gallstones, Gallbladder perforation, Jaundice, Abnormality of... ORPHA:521219
Progressive Supranuclear Palsy-Corticobasal Syndrome
Abnormal pyramidal sign, Frequent falls, Apraxia, Involuntary movements, Bradykinesia, Limb aprax... ORPHA:240103
Hypomelanosis Of Ito
Cataract, Iris coloboma OMIM:300337
Hardikar Syndrome
Hepatic failure, Cholestasis, Cholangitis, Bile duct proliferation, Hyperbilirubinemia, Ventricul... OMIM:301068
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies
Cataract, Astigmatism, Ectopia pupillae OMIM:618727
Dubin-Johnson Syndrome
Abnormality of the liver, Hepatomegaly, Jaundice, Conjugated hyperbilirubinemia, Biliary tract ab... ORPHA:234
Deafness, Autosomal Dominant 9
Tinnitus, Cochlear degeneration, Abnormality of the vestibulocochlear nerve, Postlingual sensorin... OMIM:601369
Hemophagocytic Lymphohistiocytosis, Familial, 4
Increased circulating ferritin concentration, Splenomegaly, Hepatomegaly, Jaundice, Hypertriglyce... OMIM:603552
Infantile Sialic Acid Storage Disease
Splenomegaly, Hepatomegaly, Conjugated hyperbilirubinemia, Failure to thrive, Cardiomegaly, Antev... OMIM:269920
Cholesteryl Ester Storage Disease
Hepatic failure, Hypercholesterolemia, Splenomegaly, Hepatomegaly, Jaundice, Hypertriglyceridemia... ORPHA:75234
Cholestasis, Intrahepatic, Of Pregnancy, 1
Abnormal liver function tests during pregnancy, Increased serum bile acid concentration during pr... OMIM:147480
Chylomicron Retention Disease
Vomiting, Hypotriglyceridemia, Growth delay, Failure to thrive, Hypoalbuminemia, Hypocholesterole... OMIM:246700
Polycystic Liver Disease 1 With Or Without Kidney Cysts
Polycystic liver disease, Elevated circulating alkaline phosphatase concentration, Increased tota... OMIM:174050
Thrombophilia Due To Protein S Deficiency, Autosomal Recessive
Cerebral hemorrhage, Pulmonary embolism, Purpura OMIM:614514
Sclerocornea, Autosomal Dominant
Sclerocornea OMIM:181700
Primary Biliary Cholangitis
Biliary cirrhosis, Hepatic failure, Portal hypertension, Gastrointestinal inflammation, Abnormal ... ORPHA:186
Amoebiasis Due To Entamoeba Histolytica
Constrictive pericarditis, Bloody diarrhea, Abnormal pericardium morphology, Protracted diarrhea,... ORPHA:67
Galloway-Mowat Syndrome 6
Decreased body weight, Anteverted nares, Intrauterine growth retardation, Growth delay, Short sta... OMIM:618347
Retinitis Pigmentosa 42
Pallor OMIM:612943
Cornea Plana 2, Autosomal Recessive
Flat cornea, Corneal arcus, Decreased corneal thickness OMIM:217300
Waardenburg Syndrome, Type 2E
Sensorineural hearing impairment, Aplasia of the semicircular canal, Dilated vestibule of the inn... OMIM:611584
Amoebic Keratitis
Corneal ulceration, Abnormal anterior chamber morphology, Abnormal cornea morphology, Corneal per... ORPHA:67043
Alg2-Cdg
Cataract, Iris coloboma ORPHA:79326
Cholestasis, Benign Recurrent Intrahepatic, 2
Cholelithiasis, Hepatomegaly, Jaundice, Conjugated hyperbilirubinemia, Intrahepatic cholestasis, ... OMIM:605479
Harderoporphyria
Increased circulating ferritin concentration, Cutaneous photosensitivity, Splenomegaly, Hepatomeg... OMIM:618892
Granular Corneal Dystrophy Type I
Subepithelial corneal opacities, Central corneal dystrophy, Corneal crystals, Central opacificati... ORPHA:98962
Congenital Hydrocephalus
Iris coloboma ORPHA:2185
Spondylo-Ocular Syndrome
Cataract, Disproportionate short-trunk short stature, Aplasia/Hypoplasia of the lens, Microphthal... ORPHA:85194
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia
Atrial septal defect, Growth delay, Abnormal heart morphology, Short stature, Failure to thrive OMIM:617744
Cholestasis, Progressive Familial Intrahepatic, 5
Elevated alpha-fetoprotein, Elevated circulating alanine aminotransferase concentration, Hepatic ... OMIM:617049
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Dilated cardiomyopathy, Growth delay, Hepatomegaly, Elevated circulating creatine kinase concentr... OMIM:615895
Rutherfurd Syndrome
Opacification of the corneal stroma, Corneal dystrophy OMIM:180900
Lambert Syndrome
Intrahepatic biliary atresia, Jaundice OMIM:245550
Photomyoclonus, Diabetes Mellitus, Deafness, Nephropathy, And Cerebral Dysfunction
Progressive sensorineural hearing impairment, Cochlear degeneration, Ataxia, Slowed slurred speech OMIM:172500
Cholestasis, Benign Recurrent Intrahepatic, 1
Increased serum bile acid concentration, Intrahepatic cholestasis with episodic jaundice, Hepatom... OMIM:243300
Idiopathic Congenital Hypothyroidism
Constipation, Depressed nasal bridge, Prolonged neonatal jaundice, Elevated circulating thyroid-s... ORPHA:95717
Hemophagocytic Lymphohistiocytosis, Familial, 1
Increased circulating ferritin concentration, Hypoproteinemia, Hyponatremia, Splenomegaly, Hepato... OMIM:267700
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)
Microvesicular hepatic steatosis, Hepatomegaly, Acute hepatic failure, Short stature, Prolonged n... OMIM:256810
Laurence-Moon Syndrome
Cataract, Iris coloboma ORPHA:2377
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome
Interlobular bile duct destruction, Sclerosing cholangitis, Cholestasis, Elevated gamma-glutamylt... ORPHA:562639
Fuchs Endothelial Corneal Dystrophy
Abnormal corneal endothelium morphology, Corneal opacity, Reduced number of corneal endothelial c... ORPHA:98974
Reticuloendotheliosis, X-Linked
Hepatosplenomegaly, Jaundice OMIM:312500
Macular Corneal Dystrophy
Punctate opacification of the cornea, Hyperopic astigmatism, Decreased corneal thickness, Corneal... ORPHA:98969
Cholestasis-Lymphedema Syndrome
Portal hypertension, Hyperlipidemia, Gastrointestinal hemorrhage, Splenomegaly, Hepatomegaly, Jau... ORPHA:1414
Intellectual Developmental Disorder, X-Linked, Syndromic 17
Anisocoria OMIM:300858
Primary Sclerosing Cholangitis
Uveitis, Cholestasis, Neoplasm of the gallbladder, Hepatitis, Pancreatitis, Ulcerative colitis, P... ORPHA:171
Anterior Segment Dysgenesis 1
Microcornea, Peters anomaly, Ocular anterior segment dysgenesis, Opacification of the corneal str... OMIM:107250
Microspherophakia-Metaphyseal Dysplasia
Lens subluxation, Growth delay, Short stature, Lens coloboma, Microspherophakia OMIM:157151
Microphthalmia With Brain And Digit Anomalies
Chorioretinal coloboma, Sclerocornea, Microcornea, Cataract, Iris coloboma ORPHA:139471
Pelvis-Shoulder Dysplasia
Opacification of the corneal stroma, Optic disc coloboma, Iris coloboma OMIM:169550
Immunodeficiency 27A
Hepatosplenomegaly, Weight loss, Splenomegaly, Hypoalbuminemia, Diarrhea OMIM:209950
Fetal And Neonatal Alloimmune Thrombocytopenia
Petechiae, Ecchymosis, Gastrointestinal hemorrhage, Purpura, Subarachnoid hemorrhage, Melena, Abn... ORPHA:853
Linear Verrucous Nevus Syndrome
Cataract, Abnormal cornea morphology, Iris coloboma ORPHA:2611
Temtamy Syndrome
Chorioretinal coloboma, Iris coloboma ORPHA:1777
Joint Laxity, Short Stature, And Myopia
Chorioretinal coloboma, Iris coloboma OMIM:617662
Hirschsprung Disease-Ganglioneuroblastoma Syndrome
Abnormal pupil morphology ORPHA:2151
Cataract-Intellectual Disability-Anal Atresia-Urinary Defects Syndrome
Cryptorchidism, Aplasia/Hypoplasia of the lens, Tetralogy of Fallot, Cataract ORPHA:1381
Edict Syndrome
Developmental cataract, Hypoplasia of the iris, Microcornea, Astigmatism, Keratoconus OMIM:614303
Developmental And Epileptic Encephalopathy 93
Iris coloboma OMIM:618012
Intrahepatic Cholestasis Of Pregnancy
Abnormality of the pancreas, Abnormal pineal melatonin secretion, Increased serum bile acid conce... ORPHA:69665
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome
Ectopia pupillae, Corneal opacity, Lens subluxation, Coloboma ORPHA:85167
Cholestasis, Intrahepatic, Of Pregnancy 3
Abnormal liver function tests during pregnancy, Intrahepatic cholestasis, Increased serum bile ac... OMIM:614972
Coproporphyria, Hereditary
Constipation, Cutaneous photosensitivity, Splenomegaly, Hepatomegaly, Jaundice, Diarrhea, Vomiting OMIM:121300
Moderate Hemophilia A
Gastrointestinal hemorrhage, Subcutaneous hemorrhage, Prolonged bleeding after dental extraction,... ORPHA:169805
Hemophilia A
Gastrointestinal hemorrhage, Oral cavity bleeding, Joint hemorrhage, Bleeding with minor or no tr... ORPHA:98878
Peroxisome Biogenesis Disorder 13A (Zellweger)
Jaundice, Abnormal nasal bridge morphology, Hepatomegaly, Cholestasis OMIM:614887
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Increased circulating ferritin concentration, Hepatosplenomegaly, Splenomegaly, Hepatomegaly, Jau... OMIM:616860
Triopia
Abnormal pupil morphology, Microcornea, Iris coloboma ORPHA:3374
Congenital Hypothyroidism Due To Transplacental Passage Of Tsh-Binding Inhibitory Antibodies
Constipation, Decreased thyroid-stimulating hormone level, Conjugated hyperbilirubinemia, Prolong... ORPHA:95715
Familial Hemophagocytic Lymphohistiocytosis
Increased circulating ferritin concentration, Bruising susceptibility, Petechiae, Ecchymosis, Col... ORPHA:540
Macrophage Activation Syndrome
Increased circulating ferritin concentration, Increased circulating lactate dehydrogenase concent... ORPHA:158061
Congenital Factor Xiii Deficiency
Persistent bleeding after trauma, Bruising susceptibility, Spontaneous hematomas, Abnormal umbili... ORPHA:331
Congenital Disorder Of Glycosylation, Type Ia
Hepatic steatosis, Hepatomegaly, Abnormal subcutaneous fat tissue distribution, Failure to thrive... OMIM:212065
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism
Splenomegaly, Jaundice OMIM:206400
Retinitis Pigmentosa 81
Pallor OMIM:617871
Corneal Dystrophy, Fuchs Endothelial, 2
Corneal guttata, Corneal dystrophy, Corneal degeneration OMIM:610158
Congenital Alpha2-Antiplasmin Deficiency
Persistent bleeding after trauma, Bruising susceptibility, Abnormal umbilical stump bleeding, Gin... ORPHA:79
Hemolytic Anemia Due To Glutathione Reductase Deficiency
Cataract, Hyperbilirubinemia OMIM:618660
Limbal Stem Cell Deficiency
Corneal perforation, Corneal scarring, Opacification of the corneal epithelium, Cornea verticilla... ORPHA:171673
Developmental And Epileptic Encephalopathy 26
Stereotypical hand wringing OMIM:616056
Cirrhosis, Familial
Micronodular cirrhosis, Increased level of propylene glycol in blood, Jaundice OMIM:215600
Weill-Marchesani Syndrome 3
Shallow anterior chamber, Pulmonic stenosis, Short stature, Microspherophakia, Aortic valve steno... OMIM:614819
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Increased circulating ferritin concentration, Increased circulating lactate dehydrogenase concent... ORPHA:158057
Wilson Disease
Hepatic steatosis, Bruising susceptibility, Cirrhosis, Weight loss, Kayser-Fleischer ring, Spleno... ORPHA:905
Severe Neurodevelopmental Disorder With Feeding Difficulties-Stereotypic Hand Movement-Bilateral Cataract
Stereotypical hand wringing, Spasticity ORPHA:500545
Biliary, Renal, Neurologic, And Skeletal Syndrome
Biliary cirrhosis, Elevated circulating creatinine concentration, Cholestasis, Elevated gamma-glu... OMIM:619534
Corneal Dystrophy, Thiel-Behnke Type
Juvenile epithelial corneal dystrophy, Corneal scarring, Corneal dystrophy OMIM:602082
Factor X Deficiency
Menorrhagia, Gingival bleeding, Joint hemorrhage, Prolonged prothrombin time, Intracranial hemorr... OMIM:227600
Lipoyltransferase 1 Deficiency
Decreased liver function, Elevated hepatic transaminase, Increased total bilirubin OMIM:616299
Hemophagocytic Lymphohistiocytosis, Familial, 2
Increased circulating ferritin concentration, Hypoproteinemia, Hepatosplenomegaly, Hyponatremia, ... OMIM:603553
Corneal Dystrophy, Fuchs Endothelial, 6
Corneal dystrophy, Abnormal Descemet membrane morphology, Corneal guttata, Corneal stromal edema,... OMIM:613270
Severe Hemophilia A
Persistent bleeding after trauma, Bruising susceptibility, Epistaxis, Gastrointestinal hemorrhage... ORPHA:169802
Hepatitis, Fulminant Viral, Susceptibility To
Nausea, Hepatic failure, Hepatomegaly, Jaundice, Elevated hepatic transaminase, Fulminant hepatitis OMIM:618549
Nephronophthisis 19
Cholestasis, Bile duct proliferation, Splenomegaly, Hepatomegaly, Hepatic fibrosis OMIM:616217
Subaortic Stenosis-Short Stature Syndrome
Subvalvular aortic stenosis, Abnormal circulating lipid concentration, Obesity, Microphthalmia, M... ORPHA:3191
Cerebral Amyloid Angiopathy, App-Related
Stroke, Cerebellar hemorrhage, Tortuous cerebral arteries, Cerebral ischemia, Recurrent cerebral ... OMIM:605714
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Dilated cardiomyopathy, Hypoproteinemia, Patent foramen ovale, Small for gestational age, Atrial ... ORPHA:26793
Pseudo-Torch Syndrome 1
Petechiae, Patent foramen ovale, Cataract, Decreased liver function, Hepatomegaly, Jaundice, Sple... OMIM:251290
Fish-Eye Disease
Opacification of the corneal stroma OMIM:136120
Oculopalatocerebral Syndrome
Leukocoria, Remnants of the hyaloid vascular system OMIM:257910
Al Amyloidosis
Abnormal salivary gland morphology, Abnormality of the liver, Monoclonal light chain cardiac amyl... ORPHA:85443
Congenital Primary Aphakia
Congenital aphakia, Aplasia/Hypoplasia affecting the anterior segment of the eye, Sclerocornea ORPHA:83461
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Increased circulating ferritin concentration, Splenomegaly, Elevated transferrin saturation, Redu... ORPHA:766
Retinitis Pigmentosa 60
Pallor OMIM:613983
Aicardi-Goutieres Syndrome 9
Acute pancreatitis, Hepatic steatosis, Portal hypertension, Hepatosplenomegaly, Intrauterine grow... OMIM:619487
Meckel Syndrome, Type 7
Biliary cirrhosis, Hepatosplenomegaly, Portal hypertension, Cholestasis, Pancreatic cysts, Bile d... OMIM:267010
Congenital Disorder Of Glycosylation, Type Iir
Hepatic steatosis, Decreased liver function, Hepatomegaly, Jaundice, Elevated hepatic transaminas... OMIM:301045
Refractory Celiac Disease
Hypoproteinemia, Hypocalcemia, Elevated alkaline phosphatase of bone origin, Abnormal spleen phys... ORPHA:398063
Gombo Syndrome
Microphthalmia, Abnormal heart morphology, Delayed puberty OMIM:233270
Anterior Chamber Cleavage Disorder, Cerebellar Hypoplasia, Hypothyroidism, And Tracheal Stenosis
Iris coloboma, Ocular anterior segment dysgenesis OMIM:601427
Combined Deficiency Of Factor V And Factor Viii
Epistaxis, Bruising susceptibility, Gastrointestinal hemorrhage, Menorrhagia, Prolonged bleeding ... ORPHA:35909
Primary Lateral Sclerosis, Juvenile
Pallor, Abnormal upper motor neuron morphology OMIM:606353
Glycogen Storage Disease Iii
Broad nasal tip, Hyperlipidemia, Hepatomegaly, Elevated circulating creatine kinase concentration... OMIM:232400
Polycystic Kidney, Cataract, And Congenital Blindness
Cataract, Microcoria OMIM:263100
Congenital Factor X Deficiency
Abnormal umbilical stump bleeding, Bruising susceptibility, Epistaxis, Gastrointestinal hemorrhag... ORPHA:328
Epithelial Recurrent Erosion Dystrophy
Irregular astigmatism, Subepithelial corneal opacities, Corneal dystrophy, Corneal scarring, Kera... ORPHA:293381
Bile Acid Malabsorption, Primary, 2
Elevated circulating alanine aminotransferase concentration, Periportal fibrosis, Elevated gamma-... OMIM:619481
Familial Cerebral Saccular Aneurysm
Abnormal circle of Willis morphology, Subarachnoid hemorrhage, Transient ischemic attack, Hyperte... ORPHA:231160
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects
Hyperkalemia, Cataract, Splenomegaly, Hepatomegaly, Jaundice, Growth delay, Short stature OMIM:608885
Halothane Hepatitis
Viral hepatitis, Obesity, Hepatitis, Jaundice OMIM:234350
Peroxisome Biogenesis Disorder 2A (Zellweger)
Intrauterine growth retardation, Opacification of the corneal stroma, Cryptorchidism, Cataract, H... OMIM:214110
Erythroderma, Lethal Congenital
Failure to thrive, Hypoalbuminemia OMIM:227090
Hemophilia B
Delayed onset bleeding, Prolonged bleeding after dental extraction, Spontaneous, recurrent epista... ORPHA:98879
Renal-Hepatic-Pancreatic Dysplasia 1
Biliary cirrhosis, Cholestasis, Pancreatic cysts, Bile duct proliferation, Atrial septal defect, ... OMIM:208540
Oculoauricular Syndrome
Chorioretinal coloboma, Developmental cataract, Retinal coloboma, Sclerocornea, Microcornea, Cata... OMIM:612109
Isolated Optic Nerve Hypoplasia/Aplasia
Chorioretinal coloboma, Corneal opacity, Aplasia/Hypoplasia of the iris ORPHA:137902
Peroxisome Biogenesis Disorder 7A (Zellweger)
Cataract, Hepatomegaly, Jaundice OMIM:614872
Fumarase Deficiency
Hepatic failure, Cholestasis, Reduced subcutaneous adipose tissue, Depressed nasal bridge, Failur... OMIM:606812
Hec Syndrome
Abnormal pupil morphology, Developmental cataract ORPHA:2119
Infantile Liver Failure Syndrome 3
Hepatic steatosis, Cholestasis, Hepatic bridging fibrosis, Splenomegaly, Hepatomegaly, Jaundice, ... OMIM:618641
Congenital Lethal Erythroderma
Failure to thrive, Urticaria, Hypoalbuminemia ORPHA:1954
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency
Cholelithiasis, Cholecystitis, Splenomegaly, Jaundice, Hyperbilirubinemia OMIM:235700
Chronic Bilirubin Encephalopathy
Hypernatremia, Abnormal conjunctiva morphology, Prolonged neonatal jaundice, Hypoalbuminemia, Con... ORPHA:529808
Acute Bilirubin Encephalopathy
Abnormal conjunctiva morphology, Prolonged neonatal jaundice, Hypoalbuminemia, Conjunctival icter... ORPHA:529799
Congenital Plasminogen Activator Inhibitor Type 1 Deficiency
Persistent bleeding after trauma, Epistaxis, Myocardial fibrosis, Gastrointestinal hemorrhage, Su... ORPHA:465
Mitchell-Riley Syndrome
Absent gallbladder, Intrauterine growth retardation, Cholestasis, Pancreatic hypoplasia, Biliary ... OMIM:615710
Pyruvate Kinase Deficiency Of Red Cells
Cholelithiasis, Intrauterine growth retardation, Cholecystitis, Splenomegaly, Jaundice, Unconjuga... OMIM:266200
Intellectual Developmental Disorder, Autosomal Recessive 73
Low-set ears, Poor coordination, Recurrent hand flapping, Gait ataxia, Posteriorly rotated ears OMIM:619717
Corneal Dystrophy, Fuchs Endothelial, 4
Corneal guttata, Corneal dystrophy OMIM:613268
Combined Oxidative Phosphorylation Deficiency 30
Gastroesophageal reflux, Decreased liver function, Failure to thrive, Elevated hepatic transamina... OMIM:616974
Glycogen Storage Disease Vii
Cholelithiasis, Increased total bilirubin, Jaundice, Hyperuricemia OMIM:232800
Iris Hypoplasia With Glaucoma
Iris atrophy, Hypoplasia of the iris OMIM:308500
Congenital Disorder Of Glycosylation, Type Iie
Intrauterine growth retardation, Gastroesophageal reflux, Decreased liver function, Hepatomegaly,... OMIM:608779
Xfe Progeroid Syndrome
Corneal scarring, Prematurely aged appearance, Severe short stature, Cutaneous photosensitivity, ... OMIM:610965
Cranioectodermal Dysplasia 2
Biliary cirrhosis, Patent foramen ovale, Cholestasis, Cholangitis, Bile duct proliferation, Rhizo... OMIM:613610
Zellweger Syndrome
Hepatic failure, Cryptorchidism, Posterior embryotoxon, Cataract, Corneal opacity, Wide nasal bri... ORPHA:912
Immunodeficiency 90 With Encephalopathy, Functional Hyposplenia, And Hepatic Dysfunction
Hepatic bridging fibrosis, Elevated circulating alanine aminotransferase concentration, Portal in... OMIM:613759
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Elevated circulating creatinine concentration, Cardiomegaly, Diarrhea, Hyperammonemia, Lipid accu... OMIM:608836
Abetalipoproteinemia
Corneal ulceration, Hepatic steatosis, Decreased LDL cholesterol concentration, Vomiting, Hypotri... ORPHA:14
Familial Thyroid Dyshormonogenesis
Constipation, Depressed nasal bridge, Prolonged neonatal jaundice, Elevated circulating thyroid-s... ORPHA:95716
Terminal Osseous Dysplasia
Iris coloboma OMIM:300244
Meckel Syndrome, Type 5
Bile duct proliferation, Microphthalmia OMIM:611561
Biliary Malformation With Renal Tubular Insufficiency
Failure to thrive, Biliary hyperplasia, Jaundice, Conjugated hyperbilirubinemia OMIM:210550
Meckel Syndrome, Type 2
Bile duct proliferation, Microphthalmia, Intrauterine growth retardation OMIM:603194
Macrosomia With Microphthalmia, Lethal
Large for gestational age, Microphthalmia OMIM:248110
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Hyperlipidemia, Delayed puberty, Increased hepatic glycogen content, Hypertrophic cardiomyopathy,... ORPHA:369
Neutral Lipid Storage Disease With Myopathy
Hepatic steatosis, Hepatomegaly, Elevated circulating creatine kinase concentration, Short statur... OMIM:610717
Temtamy Syndrome
Chorioretinal coloboma, Iris coloboma, Lens luxation, Ectopia lentis OMIM:218340
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)
Microvesicular hepatic steatosis, Hepatic failure, Bile duct proliferation, Hepatomegaly, Failure... OMIM:203700
Infantile Liver Failure Syndrome 2
Jaundice, Acute hepatic failure, Cardiomyopathy, Elevated hepatic transaminase, Hyperammonemia, V... OMIM:616483
Deafness, X-Linked 2
Conductive hearing impairment, Progressive sensorineural hearing impairment, Congenital sensorine... OMIM:304400
Multiple Acyl-Coa Dehydrogenase Deficiency
Hepatic steatosis, Nausea, Developmental cataract, Hepatomegaly, Hepatic periportal necrosis, Jau... OMIM:231680
Congenital Disorder Of Glycosylation, Type Iiw
Hepatic steatosis, Elevated circulating alanine aminotransferase concentration, Tetralogy of Fall... OMIM:619525
Autoimmune Hepatitis
Spider hemangioma, Viral hepatitis, Sclerosing cholangitis, Cirrhosis, Gastrointestinal hemorrhag... ORPHA:2137
Spherocytosis, Type 1
Cholelithiasis, Splenomegaly, Hyperbilirubinemia, Jaundice OMIM:182900
Congenital Pancreatic Cyst
Vomiting, Jaundice, Pancreatitis ORPHA:313906
Gómez-López-Hernández Syndrome
Corneal opacity ORPHA:1532
Pendred Syndrome
Vestibular dysfunction, Congenital sensorineural hearing impairment, Cochlear malformation OMIM:274600
Huntington Disease-Like 3
Abnormal pyramidal sign, Extrapyramidal dyskinesia, Extrapyramidal muscular rigidity, Spasticity,... ORPHA:157946
Combined Oxidative Phosphorylation Deficiency 9
Hepatic steatosis, Elevated circulating alanine aminotransferase concentration, Patent foramen ov... OMIM:614582
Hereditary Elliptocytosis
Cholelithiasis, Splenomegaly, Jaundice, Prolonged neonatal jaundice, Hyperbilirubinemia, Postnata... ORPHA:288
Persistent Hyperplastic Primary Vitreous
Glial remnants anterior to the optic disc, Shallow anterior chamber, Developmental cataract, Pers... ORPHA:91495
Neurodevelopmental Disorder With Microcephaly, Seizures, And Neonatal Cholestasis
Elevated circulating alanine aminotransferase concentration, Increased serum bile acid concentrat... OMIM:619685
Otodental Syndrome
Retinal coloboma, Microcornea, Cataract, Lens coloboma, Iris coloboma ORPHA:2791
Congenital Enterovirus Infection
Hepatic failure, Cholestasis, Myocarditis, Hepatitis, Cardiomyopathy, Hypoalbuminemia, Pericardia... ORPHA:292
Mulibrey Nanism
Iris coloboma, Astigmatism, Corneal dystrophy OMIM:253250
Congenital Enterocyte Heparan Sulfate Deficiency
Hematochezia, Abnormal circulating polysaccharide concentration, Abnormal circulating protein con... ORPHA:103910
Optic Atrophy 9
Pallor OMIM:616289
Relapsing Fever
Increased circulating lactate dehydrogenase concentration, Elevated circulating creatinine concen... ORPHA:91547
Triple A Syndrome
Iris coloboma ORPHA:869
Uveal Melanoma
Zonular cataract, Iris melanoma, Mydriasis, Inferior lens subluxation, Ciliary body melanoma ORPHA:39044
Congenital Disorder Of Glycosylation, Type Iip
Hepatic steatosis, Hypercholesterolemia, Decreased liver function, Decreased circulating cerulopl... OMIM:616829
Frontofacionasal Dysplasia
Microcornea, Cataract, Limbal dermoid, Brushfield spots, Iris coloboma ORPHA:1791
Malaria
Elevated circulating C-reactive protein concentration, Hyperbilirubinemia ORPHA:673
O'Donnell-Luria-Rodan Syndrome
Cryptorchidism, Prolonged neonatal jaundice, Vomiting OMIM:618512
Rajab Interstitial Lung Disease With Brain Calcifications 1
Hepatic steatosis, Portal hypertension, Intrauterine growth retardation, Cholestasis, Slender bui... OMIM:613658
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1
Hypoalbuminemia, Hypercholesterolemia OMIM:607250
Pyruvate Dehydrogenase E2 Deficiency
Ataxia, Oculomotor apraxia, Choreoathetosis, Jerky head movements OMIM:245348
Hepatocellular Carcinoma
Hypokalemia, Abnormality of the liver, Portal hypertension, Hyponatremia, Hypercalcemia, Hepatome... ORPHA:88673
Microphthalmia, Isolated, With Cataract 1
Microphthalmia, Cataract OMIM:156850
Mucopolysaccharidosis-Plus Syndrome
Atrial septal defect, Hypertrophic cardiomyopathy, Splenomegaly, Hepatomegaly, Wide nasal bridge,... OMIM:617303
Amyloidosis Of Gingiva And Conjunctiva With Impaired Intellectual Development
Opacification of the corneal stroma OMIM:204850
Cataract 47
Microcornea, Cataract OMIM:612018
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Pallor ORPHA:46532
Peroxisome Biogenesis Disorder 5A (Zellweger)
Hepatosplenomegaly, Intrauterine growth retardation, Cryptorchidism, Cataract, Splenomegaly, Hepa... OMIM:614866
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3
Microphthalmia, Chorioretinal dysplasia OMIM:616335
Meckel Syndrome, Type 3
Bile duct proliferation, Hepatic fibrosis, Hepatomegaly, Malformation of the hepatic ductal plate OMIM:607361
Larsen-Like Osseous Dysplasia-Short Stature Syndrome
Corneal opacity ORPHA:2370
Short Syndrome
Abnormal anterior chamber morphology, Hypoplasia of the iris, Posterior embryotoxon, Corneal opac... ORPHA:3163
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction
Ectopia pupillae OMIM:618223
Cataract 1, Multiple Types
Developmental cataract, Microcornea, Pulverulent cataract, Nuclear cataract, Posterior subcapsula... OMIM:116200
Inflammatory Pseudotumor Of The Liver
Nausea, Elevated circulating alanine aminotransferase concentration, Abnormal liver sonography, E... ORPHA:90003
Glycogen Storage Disease Ixa1
Hypercholesterolemia, Growth delay, Hepatomegaly, Elevated hepatic transaminase, Hypertriglycerid... OMIM:306000
Protoporphyria, Erythropoietic, X-Linked
Cholelithiasis, Increased erythrocyte protoporphyrin concentration, Elevated hepatic transaminase... OMIM:300752
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies
Polycoria, Developmental cataract, Hypoplasia of the iris, Microcornea, Astigmatism, Corneal opac... OMIM:175780
Nephrotic Syndrome, Type 2
Hyperlipidemia, Hypoalbuminemia OMIM:600995
Microphthalmia, Isolated 3
Sclerocornea OMIM:611038
Alagille Syndrome 1
Exocrine pancreatic insufficiency, Long nose, Hepatic failure, Cholestasis, Reduced number of int... OMIM:118450
Classic Galactosemia
Hepatic failure, Cryptorchidism, Cataract, Hepatomegaly, Jaundice, Abnormal enzyme/coenzyme activ... ORPHA:79239
Brain Small Vessel Disease 3
Cerebral hemorrhage OMIM:618360
Griscelli Syndrome Type 2
Premature graying of hair, Petechiae, Hyperlipidemia, Splenomegaly, Hepatomegaly, Jaundice, Iris ... ORPHA:79477
Aniridia 2
Cataract, Aniridia OMIM:617141
Eosinophilic Gastroenteritis
Hematochezia, Elevated circulating C-reactive protein concentration, Allergic rhinitis, Dysphagia... ORPHA:2070
Autosomal Recessive Spinocerebellar Ataxia-Blindness-Deafness Syndrome
Cochlear degeneration, Spastic dysarthria, Head tremor, Gait ataxia, Progressive cerebellar ataxi... ORPHA:95433
Hereditary Spherocytosis
Cholelithiasis, Splenomegaly, Hepatomegaly, Jaundice, Growth delay, Restrictive cardiomyopathy, H... ORPHA:822
Anemia, Congenital Dyserythropoietic, Type Ii
Cholelithiasis, Splenomegaly, Jaundice, Reduced level of N-acetylglucosaminyltransferase II OMIM:224100
Hypertriglyceridemia, Transient Infantile
Hepatic steatosis, Splenomegaly, Hepatomegaly, Short stature, Elevated hepatic transaminase, Hype... OMIM:614480
Reynolds Syndrome
Biliary cirrhosis, Gastrointestinal hemorrhage, Splenomegaly, Hepatomegaly, Jaundice, Calcinosis,... OMIM:613471
Gallbladder Disease 1
Cholelithiasis, Cholangitis, Cholecystitis, Cholesterol gallstones, Jaundice, Elevated hepatic tr... OMIM:600803
Graft Versus Host Disease
Nausea, Hepatosplenomegaly, Gastrointestinal inflammation, Chronic hepatitis, Jaundice, Failure t... ORPHA:39812
Brittle Cornea Syndrome 2
Keratoglobus, Sclerocornea, Decreased corneal thickness, Flat cornea, Keratoconus, Megalocornea OMIM:614170
Congenital Disorder Of Glycosylation, Type Ij
Hypoproteinemia, Cryptorchidism, Cataract, Jaundice, Elevated hepatic transaminase OMIM:608093
Thyroid Hemiagenesis
Constipation, Growth delay, Jaundice ORPHA:95719
Transaldolase Deficiency
Hepatosplenomegaly, Increased serum bile acid concentration, Abnormal circulating glutamine conce... ORPHA:101028
Mental Retardation, Buenos Aires Type
Intrahepatic biliary atresia, Atrial septal defect, Wide nasal bridge, Blue irides, Failure to th... OMIM:249630
17Q21.31 Microduplication Syndrome
Failure to thrive, Delayed puberty, Anteverted nares, Short nose ORPHA:217340
Deaf Blind Hypopigmentation Syndrome, Yemenite Type
Microcornea, Anterior synechiae of the anterior chamber, Iris coloboma, Iris hypopigmentation ORPHA:3214
Blindness-Scoliosis-Arachnodactyly Syndrome
Cataract, Lens subluxation, Microphakia ORPHA:171844
Focal Segmental Glomerulosclerosis 1
Hyperlipidemia, Hypoalbuminemia OMIM:603278
Chromosome 16Q12 Duplication Syndrome
Cataract, Anisocoria OMIM:619649
Spinocerebellar Ataxia With Axonal Neuropathy Type 1
Hypoalbuminemia, Hypercholesterolemia ORPHA:94124
Microphthalmia, Syndromic 12
Broad nasal tip, Anophthalmia, Cryptorchidism, Wide nasal bridge, Microphthalmia, Ventricular sep... OMIM:615524
Autosomal Recessive Polycystic Kidney Disease
Hepatoblastoma, Gastrointestinal hemorrhage, Cholestasis, Cholangitis, Elevated gamma-glutamyltra... ORPHA:731
Atrial Septal Defect 2
Atrial septal defect, Ventricular septal defect, Atrioventricular canal defect OMIM:607941
Usher Syndrome Type 3
Abnormal cochlea morphology, Sensorineural hearing impairment, Ataxia, Vestibular hypofunction ORPHA:231183
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Hypoproteinemia, Growth delay, Hepatomegaly, Hypoalbuminemia, Intestinal obstruction, Diarrhea, V... OMIM:226300
Muscular Pseudohypertrophy-Hypothyroidism Syndrome
Constipation, Short stature, Jaundice ORPHA:2349
Nephrotic Syndrome, Type 15
Hypoalbuminemia OMIM:617609
Hypermanganesemia With Dystonia 1
Decreased liver function, Hepatomegaly, Hypermanganesemia, Elevated hepatic transaminase, Increas... OMIM:613280
D-Bifunctional Protein Deficiency
Hepatic steatosis, Cholestasis, Bile duct proliferation, Splenomegaly, Hepatomegaly, Failure to t... OMIM:261515
Sneddon Syndrome
Stroke, Hypertension, Bicuspid aortic valve, Cerebral hemorrhage, Ischemic stroke OMIM:182410
Peripheral Cone Dystrophy
Pallor OMIM:609021
Low Phospholipid-Associated Cholelithiasis
Cholelithiasis, Biliary cirrhosis, Sclerosing cholangitis, Biliary tract obstruction, Cholangitis... ORPHA:69663
Methylmalonic Acidemia With Homocystinuria, Type Cbld
Pallor ORPHA:79283
Autosomal Recessive Ataxia Due To Pex10 Deficiency
Abnormal pyramidal sign, Progressive cerebellar ataxia, Limb ataxia, Abnormal head movements, Pro... ORPHA:247815
Xeroderma Pigmentosum, Complementation Group G
Small for gestational age, Cataract, Cutaneous photosensitivity, Growth delay, Microphthalmia OMIM:278780
Nephrotic Syndrome, Type 9
Hypoalbuminemia OMIM:615573
Congenital Disorder Of Glycosylation, Type Iil
Intrauterine growth retardation, Cholestasis, Elevated gamma-glutamyltransferase level, Atrial se... OMIM:614576
Phacoanaphylactic Uveitis
Corneal keratic precipitates, Abnormal corneal endothelium morphology, Posterior uveitis, Anterio... ORPHA:209959
Microspherophakia With Hernia
Microspherophakia, Superior lens subluxation OMIM:157150
Budd-Chiari Syndrome
Portal hypertension, Gastrointestinal hemorrhage, Peritonitis, Cholecystitis, Splenomegaly, Hepat... ORPHA:131
Cyanosis, Transient Neonatal