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Gene: Ncoa6 MGI:1929915

Gene Summary

Name:

nuclear receptor coactivator 6

Synonyms:

PRIP, ASC2, NRC, AIB3, RAP250, ASC-2

Order Alleles

IMPC Data Collections

Body Weight Measurements
No Embryo Imaging Data
Viability Data

IMPC Phenotype Summary

Significant

Not Significant

Not tested

View all our phenotype data below

Phenotypes

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

Phenotype	Allele	Zyg	Life Stage	P Value
preweaning lethality, incomplete penetrance	Ncoa6^em1(IMPC)J	HOM	Early adult	0.00
abnormal retina morphology	Ncoa6^em1(IMPC)J	HET	Early adult	2.61×10^-06
decreased total body fat amount	Ncoa6^em1(IMPC)J	HET	Early adult	2.98×10^-05

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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.

Eye Morphology

Images Ophthalmoscopy

26 Images

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X-ray

XRay Images Whole Body Dorso Ventral

9 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

9 Images

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X-ray

XRay Images Forepaw

9 Images

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X-ray

XRay Images Skull Lateral Orientation

9 Images

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X-ray

XRay Images Whole Body Lateral Orientation

9 Images

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Electroretinography 2

Rod and cone PDF

4 Images

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Human diseases caused by Ncoa6 mutations

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

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

Human diseases associated with Ncoa6 (0 diseases)
Human diseases predicted to be associated with Ncoa6 (773 diseases)

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Ncoa6 by phenotypic similarity.

Disease	Matching phenotypes	Source
Cataract 4, Multiple Types	Developmental cataract	OMIM:115700
Cataract 13 With Adult I Phenotype	Developmental cataract	OMIM:116700
Cataract 37	Developmental cataract	OMIM:614422
Cataract 45	Developmental cataract	OMIM:616851
Cataract 38	Developmental cataract	OMIM:614691
Ectopia Lentis 2, Isolated, Autosomal Recessive	Ectopia lentis	OMIM:225100
Hereditary Hyperferritinemia-Cataract Syndrome	Cataract	ORPHA:163
Cataract 35	Cataract	OMIM:609376
Cataract 36	Cataract	OMIM:613887
Cataract 29	Cataract	OMIM:115800
Cataract 44	Developmental cataract	OMIM:616509
Hypertrophic Neuropathy And Cataract	Cataract	OMIM:239900
Cataract And Congenital Ichthyosis	Cataract	OMIM:212400
Cochleosaccular Degeneration With Progressive Cataracts	Progressive cataract	OMIM:120040
Retinal Dysplasia, Primary	Retinal dysplasia, Falciform retinal fold	OMIM:312550
Glaucoma-Ectopia Lentis-Microspherophakia-Stiff Joints-Short Stature Syndrome	Ectopia lentis	ORPHA:2084
Anterior Segment Dysgenesis 8	Cataract, Ectopia lentis, Ectopia pupillae, Hypoplasia of the iris, Uveal ectropion, Corneal stro...	OMIM:617319
Cataract 12, Multiple Types	Progressive cataract, Developmental cataract	OMIM:611597
Cataract 7	Developmental cataract	OMIM:115660
Trichomegaly	Cataract	OMIM:190330
Cataract 42	Cataract, Developmental cataract	OMIM:115900
Glycogen Storage Disease Vi	Elevated circulating hepatic transaminase concentration, Hyperlipidemia, Increased hepatic glycog...	OMIM:232700
Hydrocephaly-Cerebellar Agenesis Syndrome	Cataract	ORPHA:1397
Aldh18A1-Related De Barsy Syndrome	Cataract	ORPHA:35664
Corneal Dystrophy, Groenouw Type I	Cataract, Punctate corneal dystrophy, Nodular corneal dystrophy, Granular corneal dystrophy	OMIM:121900
Pupillary Membrane, Persistence Of	Persistent pupillary membrane, Developmental cataract, Megalocornea	OMIM:178900
Microphthalmia/Coloboma 3	Cataract, Iris coloboma, Microphthalmia	OMIM:610092
Foveal Hypoplasia 1	Presenile cataracts, Hypoplasia of the fovea	OMIM:136520
Corneal dystrophy, lisch epithelial	Corneal dystrophy	OMIM:300778
Cataract 46, Juvenile-Onset, With Or Without Arrhythmic Cardiomyopathy	Juvenile cataract	OMIM:212500
Spinal Muscular Atrophy-Dandy-Walker Malformation-Cataracts Syndrome	Cataract	ORPHA:73245
Nathalie Syndrome	Cataract	ORPHA:2663
Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract	Cataract, Aniridia, Microcornea	OMIM:106230
Cholesterol-Ester Transfer Protein Deficiency	Hypotriglyceridemia, Increased HDL cholesterol concentration, Hyperlipidemia, Hyperlipoproteinemi...	ORPHA:79506
Microphthalmia, Isolated, With Cataract 1	Cataract, Microphthalmia	OMIM:156850
Uncombable Hair Syndrome 2	Juvenile cataract	OMIM:617251
Hypertriglyceridemia 2	Hypercholesterolemia, Hypertriglyceridemia, Decreased HDL cholesterol concentration	OMIM:619324
Cataract-Ataxia-Deafness-Retardation Syndrome	Developmental cataract	OMIM:212710
Stargardt Disease 1	Retinitis pigmentosa inversa, Macular degeneration, Bull's eye maculopathy	OMIM:248200
Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities	Cataract	OMIM:300719
Retinal Dystrophy, Reticular Pigmentary, Of Posterior Pole	Reticular pigmentary degeneration, Drusen, Retinal dystrophy	OMIM:267800
X-Linked Retinoschisis	Cataract	ORPHA:792
Myopathy, Mitochondrial Progressive, With Congenital Cataract And Developmental Delay	Cataract, Developmental cataract	OMIM:613076
Cholestasis, Progressive Familial Intrahepatic, 10	Hypoalbuminemia, Portal fibrosis, Increased total bilirubin, Elevated circulating aspartate amino...	OMIM:619868
Macular Degeneration, Age-Related, 13	Choroidal neovascularization, Macular degeneration, Drusen, Macular scar	OMIM:615439
Alpha-N-Acetylgalactosaminidase Deficiency Type 3	Cataract	ORPHA:79281
Aniridia-Intellectual Disability Syndrome	Cataract, Aniridia, Ectopia lentis, Optic nerve hypoplasia	ORPHA:1068
Cataract 14, Multiple Types	Zonular cataract	OMIM:601885
Oocyte/Zygote/Embryo Maturation Arrest 10	Female infertility, Miscarriage	OMIM:619176
Glaucoma 3, Primary Congenital, D	Primary congenital glaucoma, Ectopia lentis, Corneal opacity	OMIM:613086
Cataract-Microcornea Syndrome	Cataract, Microcornea, Corneal opacity, Iris coloboma, Corneal dystrophy	ORPHA:1377
Cholesteryl Ester Storage Disease	Hepatic failure, Diarrhea, Splenomegaly, Cirrhosis, Hypercholesterolemia, Hypertriglyceridemia, H...	ORPHA:75234
Anterior Segment Dysgenesis 2	Cataract, Microcornea, Peters anomaly, Posterior synechiae of the anterior chamber, Aniridia, Ant...	OMIM:610256
Thumb, Hypoplastic, With Choroid Coloboma, Poorly Developed Antihelix, And Deafness	Cataract	OMIM:274205
Congenital Disorder Of Glycosylation, Type Iip	Elevated circulating hepatic transaminase concentration, Decreased liver function, Increased LDL ...	OMIM:616829
Foveal Hypoplasia-Presenile Cataract Syndrome	Cataract	ORPHA:2253
Cataract 11, Multiple Types	Cataract, Developmental cataract, Microphthalmia	OMIM:610623
Genetic Hyperferritinemia Without Iron Overload	Cataract	ORPHA:254704
Blindness-Scoliosis-Arachnodactyly Syndrome	Lens subluxation, Cataract, Microphakia	ORPHA:171844
Iris Pigment Layer, Cleavage Of	Cataract	OMIM:147610
Spinocerebellar Degeneration With Macular Corneal Dystrophy, Congenital Cataracts, And Myopia	Corneal dystrophy, Developmental cataract	OMIM:271320
Xanthomatosis, Susceptibility To	Hypercholesterolemia	OMIM:602247
Cataract 47	Cataract, Microcornea	OMIM:612018
Galactosemia Ii	Cataract	OMIM:230200
Cataract 8, Multiple Types	Nuclear cataract, Developmental cataract	OMIM:115665
Galactosemia Iv	Cataract	OMIM:618881
Hypoalphalipoproteinemia, Primary, 2	Cataract, Corneal arcus	OMIM:618463
Congenital Disorder Of Glycosylation, Type Iio	Cholestatic liver disease, Hepatic failure, Elevated circulating hepatic transaminase concentrati...	OMIM:616828
Neutropenia, Severe Congenital, 9, Autosomal Dominant	Cataract	OMIM:619813
Cataract 22, Multiple Types	Nuclear cataract, Developmental cataract	OMIM:609741
Female Infertility Due To Oocyte Meiotic Arrest	Abnormal meiosis, Female infertility, Oocyte arrest at metaphase I	ORPHA:488191
Cataract-Intellectual Disability-Anal Atresia-Urinary Defects Syndrome	Cataract, Aplasia/Hypoplasia of the lens	ORPHA:1381
Sitosterolemia 2	Hypercholesterolemia, Elevated circulating sitosterol concentration	OMIM:618666
Thyroid Hormone Metabolism, Abnormal, 2	Hypercholesterolemia	OMIM:619855
Retinitis Pigmentosa 36	Macular degeneration, Attenuation of retinal blood vessels, Bone spicule pigmentation of the reti...	OMIM:610599
Cataract 9, Multiple Types	Cataract, Microcornea, Progressive cataract, Developmental cataract, Microphthalmia, Iris coloboma	OMIM:604219
Glycine N-Methyltransferase Deficiency	Hypermethioninemia, Hepatomegaly, Elevated circulating hepatic transaminase concentration	OMIM:606664
Cataract 10, Multiple Types	Posterior Y-sutural cataract, Developmental cataract, Nuclear cataract, Zonular cataract	OMIM:600881
Spastic Paraparesis And Deafness	Cataract	OMIM:312910
Proximal Myotonic Myopathy	Cataract	ORPHA:606
Spinocerebellar Ataxia, Autosomal Recessive 24	Cataract	OMIM:617133
Oocyte/Zygote/Embryo Maturation Arrest 2	Oocyte arrest at metaphase I, Female infertility	OMIM:616780
Oocyte/Zygote/Embryo Maturation Arrest 4	Oocyte arrest at metaphase I, Female infertility	OMIM:617743
Cataract 50 With Or Without Glaucoma	Cataract, Persistent pupillary membrane	OMIM:620253
Oocyte/Zygote/Embryo Maturation Arrest 9	Abnormality of the menstrual cycle, Oocyte arrest at metaphase I, Female infertility	OMIM:619011
Glycogen Storage Disease Ixa1	Elevated circulating hepatic transaminase concentration, Splenomegaly, Hyperuricemia, Hypercholes...	OMIM:306000
Muscular Dystrophy, Congenital, With Infantile Cataract And Hypogonadism	Cataract	OMIM:254000
Oocyte/Zygote/Embryo Maturation Arrest 14	Female infertility, Oocyte maturation arrest	OMIM:620276
Oocyte/Zygote/Embryo Maturation Arrest 5	Female infertility, Lack of oocyte pronucleus formation	OMIM:617996
Corneal Dystrophy, Posterior Polymorphous, 2	Corneal dystrophy, Corneal opacity	OMIM:609140
Morbid Obesity And Spermatogenic Failure	Decreased HDL cholesterol concentration, Increased LDL cholesterol concentration, Hepatic steatos...	OMIM:615703
Exudative Vitreoretinopathy 7	Exudative vitreoretinopathy, Retinal degeneration, Retinal detachment, Retinal hole, Retinal fold	OMIM:617572
Hyperlipoproteinemia, Type Ii, And Deafness	Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia	OMIM:144300
Oocyte/Zygote/Embryo Maturation Arrest 21	Female infertility	OMIM:620610
Oocyte/Zygote/Embryo Maturation Arrest 13	Female infertility	OMIM:620154
Oocyte/Zygote/Embryo Maturation Arrest 12	Female infertility	OMIM:619697
Macular Degeneration, Age-Related, 11	Macular degeneration	OMIM:611953
Macular Degeneration, Age-Related, 4	Macular degeneration	OMIM:610698
Macular Degeneration, Age-Related, 7	Macular degeneration	OMIM:610149
Macular Degeneration, Age-Related, 2	Macular degeneration	OMIM:153800
Macular Degeneration, Age-Related, 6	Macular degeneration	OMIM:613757
Macular Degeneration, Age-Related, 15	Macular degeneration	OMIM:615591
Proteasome-Associated Autoinflammatory Syndrome 5	Hepatomegaly, Splenomegaly, Hypertriglyceridemia	OMIM:619175
Hypertriglyceridemia, Transient Infantile	Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Vomiting, Hepatic stea...	OMIM:614480
Cataract 3, Multiple Types	Developmental cataract, Sutural cataract, Nuclear pulverulent cataract, Cerulean cataract	OMIM:601547
Cataract 1, Multiple Types	Microcornea, Nuclear cataract, Posterior subcapsular cataract, Pulverulent cataract	OMIM:116200
Lipodystrophy, Congenital Generalized, Type 3	Hepatosplenomegaly, Hypocalcemia, Hepatic steatosis, Splenomegaly, Hypercholesterolemia, Hypertri...	OMIM:612526
Exudative Vitreoretinopathy 3	Retinal exudate, Exudative vitreoretinopathy, Retinal detachment, Retinal hole, Retinal fold	OMIM:605750
Nathalie Syndrome	Cataract	OMIM:255990
Brachydactyly-Syndactyly Syndrome	Finger syndactyly, Oligodactyly, Short digit, Brachydactyly, Camptodactyly, Short phalanx of fing...	OMIM:610713
Cortical Dysplasia, Complex, With Other Brain Malformations 4	Cataract	OMIM:615412
Microspherophakia And/Or Megalocornea, With Ectopia Lentis And With Or Without Secondary Glaucoma	Microspherophakia, Ectopia lentis, Megalocornea, Iridodonesis, Buphthalmos, Deep anterior chamber	OMIM:251750
Aniridia 2	Lens subluxation, Cataract, Aniridia, Iris coloboma	OMIM:617141
Hypercholesterolemia, Familial, 4	Decreased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia	OMIM:603813
Santos Syndrome	Preaxial polydactyly, Oligodactyly, Genu valgum, Polydactyly, Postaxial polydactyly, Talipes equi...	OMIM:613005
Weill-Marchesani Syndrome 3	Microspherophakia, Shallow anterior chamber, Ectopia lentis	OMIM:614819
Premature Ovarian Failure 19	Irregular menstruation, Premature ovarian insufficiency, Female infertility, Secondary amenorrhea	OMIM:619245
Myopia 17, Autosomal Dominant	Presenile cataracts	OMIM:608367
Isolated Aniridia	Cataract, Aniridia, Peters anomaly, Aplasia/Hypoplasia of the macula	ORPHA:250923
Schnyder Corneal Dystrophy	Corneal dystrophy, Crystalline corneal dystrophy	OMIM:121800
Central Cloudy Dystrophy Of Francois	Central corneal dystrophy, Corneal dystrophy	OMIM:217600
Hypomyelination-Congenital Cataract Syndrome	Developmental cataract	ORPHA:85163
Cataract-Nephropathy-Encephalopathy Syndrome	Cataract	ORPHA:1380
Hemolytic Anemia Due To Glutathione Reductase Deficiency	Cataract	OMIM:618660
Apolipoprotein C-Ii Deficiency	Increased circulating chylomicron concentration, Splenomegaly, Hypercholesterolemia, Decreased ci...	OMIM:207750
Diarrhea 7, Protein-Losing Enteropathy Type	Hypoalbuminemia, Vomiting, Diarrhea, Hyperlipidemia, Hypercholesterolemia	OMIM:615863
Corneal Dystrophy, Endothelial, X-Linked	Band keratopathy, Corneal dystrophy, Corneal opacity	OMIM:300779
Retinoschisis 1, X-Linked, Juvenile	Mizuo phenomenon, Retinal degeneration, Vitreous hemorrhage, Retinal atrophy, Retinal detachment,...	OMIM:312700
Hyperprolactinemia	Menorrhagia, Oligomenorrhea, Female infertility, Increased circulating prolactin concentration	OMIM:615555
Congenital Primary Aphakia	Corneal perforation, Aniridia, Congenital aphakia, Aplasia/Hypoplasia affecting the anterior segm...	ORPHA:83461
Cholestasis, Progressive Familial Intrahepatic, 8	Hepatic bridging fibrosis, Hepatic fibrosis, Cholestasis, Elevated circulating aspartate aminotra...	OMIM:619662
Dermoids Of Cornea	Corneal opacity	OMIM:304730
Hydatidiform Mole, Recurrent, 3	Female infertility	OMIM:618431
Hydatidiform Mole, Recurrent, 4	Female infertility	OMIM:618432
Cataract-Deafness-Hypogonadism Syndrome	Developmental cataract	ORPHA:1383
Premature Ovarian Failure 2B	Premature ovarian insufficiency, Female infertility, Primary amenorrhea	OMIM:300604
Intellectual Developmental Disorder, X-Linked, Syndromic, Armfield Type	Cataract	OMIM:300261
Hypothyroidism, Congenital, Nongoitrous, 8	Constipation, Hypercholesterolemia	OMIM:301033
Optic Atrophy 3, Autosomal Dominant	Cataract	OMIM:165300
Postaxial Tetramelic Oligodactyly	Abnormal finger morphology, Abnormal metacarpal morphology, Oligodactyly, Ectrodactyly	ORPHA:2730
Dysequilibrium Syndrome	Cataract	ORPHA:1766
Citrullinemia, Type Ii, Neonatal-Onset	Hypermethioninemia, Intrahepatic cholestasis, Portal fibrosis, Decreased HDL cholesterol concentr...	OMIM:605814
Coronary Artery Disease, Autosomal Dominant, 1	Hypercholesterolemia	OMIM:608320
Congenital Heart Block	Atrioventricular block, Second degree atrioventricular block, Third degree atrioventricular block...	ORPHA:60041
Cholesteryl Ester Storage Disease	Hepatic bridging fibrosis, Diarrhea, Acute hepatic failure, Increased LDL cholesterol concentrati...	OMIM:278000
Aniridia And Absent Patella	Cataract, Aniridia	OMIM:106220
Oocyte/Zygote/Embryo Maturation Arrest 8	Abnormality of the menstrual cycle, Female infertility	OMIM:619009
Late-Onset Retinal Degeneration	Choroidal neovascularization, Retinopathy, Retinal degeneration, Chorioretinal degeneration, Sub-...	OMIM:605670
X-Linked Retinal Dysplasia	Retinal dysplasia, Abnormal retinal vascular morphology, Abnormality of retinal pigmentation	ORPHA:1852
Retinal Degeneration And Epilepsy	Retinal degeneration	OMIM:267740
Myopia 28, Autosomal Recessive	Cataract	OMIM:619781
Microcornea, Rod-Cone Dystrophy, Cataract, And Posterior Staphyloma 1	Cataract, Microcornea	OMIM:619082
Glaucoma 3, Primary Infantile, B	Primary congenital glaucoma	OMIM:600975
Cataract 41	Nuclear cataract	OMIM:116400
Cataract, Age-Related Nuclear	Nuclear cataract	OMIM:601371
Cataract 18	Nuclear cataract	OMIM:610019
Cataract 17, Multiple Types	Microcornea, Nuclear cataract, Developmental cataract, Pulverulent cataract	OMIM:611544
Leukoencephalopathy With Vanishing White Matter 5	Dilated third ventricle, Lateral ventricle dilatation	OMIM:620315
Aniridia 3	Cataract, Aniridia	OMIM:617142
Coats Disease	Cataract, Abnormal anterior chamber morphology, Aplasia/Hypoplasia of the iris	ORPHA:190
Sorsby Pseudoinflammatory Fundus Dystrophy	Choroidal neovascularization, Pigmentary retinopathy, Abnormal fundus autofluorescence imaging, H...	ORPHA:59181
Oocyte/Zygote/Embryo Maturation Arrest 11	Female infertility	OMIM:619643
Oocyte/Zygote/Embryo Maturation Arrest 7	Female infertility	OMIM:618550
Oocyte/Zygote/Embryo Maturation Arrest 6	Female infertility	OMIM:618353
Progesterone Resistance	Female infertility	OMIM:264080
Oocyte/Zygote/Embryo Maturation Arrest 18	Female infertility	OMIM:620332
Oocyte/Zygote/Embryo Maturation Arrest 19	Female infertility	OMIM:620333
Oocyte/Zygote/Embryo Maturation Arrest 15	Female infertility	OMIM:616814
Oocyte/Zygote/Embryo Maturation Arrest 1	Female infertility	OMIM:615774
Oocyte/Zygote/Embryo Maturation Arrest 3	Female infertility	OMIM:617712
Bardet-Biedl Syndrome 18	Cataract	OMIM:615995
Cataract 39, Multiple Types	Lamellar cataract, Developmental cataract, Anterior polar cataract	OMIM:615188
Asherman Syndrome	Abnormality of the menstrual cycle, Metrorrhagia, Dysmenorrhea, Decreased fertility in females, O...	ORPHA:137686
Anterior Segment Dysgenesis 7	Cataract, Microcornea, Anterior synechiae of the anterior chamber, Sclerocornea, Ocular anterior ...	OMIM:269400
Exfoliation Syndrome	Cataract, Mydriasis, Pseudoexfoliation, Abnormal lens morphology, Phakodonesis, Pigment depositio...	OMIM:177650
Anterior Segment Dysgenesis 3	Peters anomaly, Ectopia pupillae, Rieger anomaly, Abnormal iris vasculature, Axenfeld anomaly, Po...	OMIM:601631
Retinopathy, Pericentral Pigmentary, Dominant	Pigmentary retinopathy, Attenuation of retinal blood vessels, Retinopathy, Retinal atrophy, Bone ...	OMIM:180210
Combined Oxidative Phosphorylation Deficiency 10	Hypertrophic cardiomyopathy, Ascites, Intrauterine growth retardation, Oligohydramnios, Pleural e...	OMIM:614702
Hyperlipidemia, Familial Combined, 3	Xanthelasma, Increased LDL cholesterol concentration, Hyperlipidemia, Increased VLDL cholesterol ...	OMIM:144250
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2	Elevated circulating hepatic transaminase concentration, Hypertrophic cardiomyopathy, Sideroblast...	OMIM:613561
Autosomal Dominant Keratitis	Cataract, Microcornea, Keratitis, Bilateral microphthalmos, Abnormal corneal limbus morphology, A...	ORPHA:2334
Radiohumeral Fusions With Other Skeletal And Craniofacial Anomalies	Oligodactyly, Arachnodactyly, Occipital encephalocele, Humeroradial synostosis	OMIM:614416
Leber Congenital Amaurosis 7	Cataract, Keratoconus	OMIM:613829
Cataract 21, Multiple Types	Iris coloboma, Microcornea, Peters anomaly, Cerulean cataract, Macular hypoplasia, Corneal opacit...	OMIM:610202
Kyrle Disease	Posterior subcapsular cataract	OMIM:149500
Cataract 43	Posterior subcapsular cataract	OMIM:616279
Familial Drusen	Peripapillary chorioretinal atrophy, Choroidal neovascularization, Subretinal fluid, Reticular pi...	ORPHA:75376
Megalocornea	Cataract, Deep anterior chamber, Megalocornea, Lens subluxation, Astigmatism, Iridodonesis, Iris ...	OMIM:309300
Fibular Hemimelia	Toe syndactyly, Finger syndactyly, Short tibia, Fibular aplasia, Genu valgum, Talipes equinovarus...	ORPHA:93323
Macular Degeneration, Age-Related, 1	Choroidal neovascularization, Macular degeneration, Foveal hypopigmentation, Macular hemorrhage, ...	OMIM:603075
Spastic Paraparesis-Deafness Syndrome	Cataract	ORPHA:2815
Retinitis Pigmentosa 40	Cataract	OMIM:613801
Congenital Varicella Syndrome	Cataract, Microphthalmia	ORPHA:291
Citrullinemia, Type Ii, Adult-Onset	Hepatic fibrosis, Portal inflammation, Ballooning hepatocyte degeneration, Hyperammonemia, Hypera...	OMIM:603471
Hyperlipoproteinemia, Type I	Lactescent serum, Vomiting, Increased circulating chylomicron concentration, Hepatosplenomegaly, ...	OMIM:238600
Frontonasal Dysplasia-Bifid Nose-Upper Limb Anomalies Syndrome	Clinodactyly of the 3rd toe, Oligodactyly, Intrauterine growth retardation, Abnormality of the ha...	ORPHA:521308
Oculoauricular Syndrome	Cataract, Microcornea, Posterior synechiae of the anterior chamber, Iris cyst, Macular hypoplasia...	OMIM:612109
Anterior Segment Dysgenesis 1	Posterior polar cataract, Microcornea, Peters anomaly, Ocular anterior segment dysgenesis, Opacif...	OMIM:107250
Cataract 5, Multiple Types	Nuclear cataract, Pulverulent cataract, Lamellar cataract, Anterior polar cataract, Zonular cataract	OMIM:116800
Peters Anomaly	Peters anomaly, Thinning of Descemet membrane, Subcapsular cataract, Anterior synechiae of the an...	ORPHA:708
Birdshot Chorioretinopathy	Abnormal chorioretinal morphology, Choroidal neovascularization, Retinal thinning, Epiretinal mem...	ORPHA:179
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development	Cataract, Iris coloboma, Microphthalmia	OMIM:120433
Ectopia Lentis Et Pupillae	Cataract, Ectopia lentis, Ectopia pupillae, Iris transillumination defect, Persistent pupillary m...	OMIM:225200
Cardiomyopathy, Familial Hypertrophic, 4	Ventricular hypertrophy, Myofiber disarray, Myopathy, Pulmonary edema, Left bundle branch block, ...	OMIM:115197
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency	Acute hepatic steatosis, Hepatitis, Cholestasis, Increased LDL cholesterol concentration, Hepatic...	ORPHA:209902
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome	Cataract, Persistent pupillary membrane, Aplasia/Hypoplasia of the iris, Corneal opacity	ORPHA:1067
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6	Muscular dystrophy, Dilated third ventricle, Increased endomysial connective tissue, Lateral vent...	OMIM:613154
Cataract 23, Multiple Types	Lamellar cataract, Microcornea, Nuclear cataract	OMIM:610425
Nephrosialidosis	Ascites, Pericardial effusion	OMIM:256150
Cataract 2, Multiple Types	Microcornea, Nuclear cataract, Nuclear pulverulent cataract, Developmental cataract, Aculeiform c...	OMIM:604307
Thanatophoric Dysplasia, Glasgow Variant	Cataract	OMIM:273680
Low Phospholipid-Associated Cholelithiasis	Intrahepatic cholestasis, Cholelithiasis, Biliary cirrhosis, Elevated circulating hepatic transam...	ORPHA:69663
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome	Persistence of hemoglobin F, Pallor, Splenomegaly, Anemia, Hepatomegaly	ORPHA:46532
Cholestasis-Lymphedema Syndrome	Elevated circulating hepatic transaminase concentration, Hyperlipidemia, Splenomegaly, Neonatal c...	OMIM:214900
X-Linked Parkinsonism-Spasticity Syndrome	Dilated third ventricle, Lateral ventricle dilatation	ORPHA:363654
Oocyte/Zygote/Embryo Maturation Arrest 17	Amenorrhea, Female infertility	OMIM:620319
Oocyte/Zygote/Embryo Maturation Arrest 20	Amenorrhea, Female infertility	OMIM:620383
Anterior Segment Dysgenesis 5	Microcornea, Peters anomaly, Hypoplasia of the iris, Rieger anomaly, Microphthalmia, Hypoplasia o...	OMIM:604229
Spondylo-Ocular Syndrome	Iris hypopigmentation, Cataract, Aplasia/Hypoplasia of the lens, Microphthalmia	ORPHA:85194
Congenital Pulmonary Lymphangiectasia	Congestive heart failure, Tricuspid regurgitation, Ascites, Pleural effusion, Pulmonary arterial ...	ORPHA:2414
Cornea Guttata With Anterior Polar Cataracts	Anterior polar cataract	OMIM:121390
Leg, Absence Deformity Of, With Congenital Cataract	Progressive cataract, Developmental cataract	OMIM:246000
Leptin Receptor Deficiency	Decreased response to growth hormone stimulation test, Abnormal hypothalamus morphology, Pituitar...	OMIM:614963
Hepatic Lipase Deficiency	Increased HDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterolemia	OMIM:614025
Ichthyosis-Intellectual Disability-Dwarfism-Renal Impairment Syndrome	Cataract	ORPHA:2278
Cataract 32, Multiple Types	Anterior polar cataract	OMIM:115650
Leber Congenital Amaurosis 6	Cataract, Keratoconus	OMIM:613826
Primary Effusion Lymphoma	Pericardial effusion, Pleural effusion	ORPHA:48686
Hydrops Fetalis	Generalized edema, Lymphedema, Ascites, Abnormal heart morphology, Pleural effusion, Nonimmune hy...	ORPHA:1041
Cochleosaccular Degeneration-Cataract Syndrome	Cataract	ORPHA:3233
Lymphatic Malformation 8	Generalized edema, Pleural effusion, Nonimmune hydrops fetalis, Stillbirth, Polyhydramnios, Peric...	OMIM:618773
Premature Ovarian Failure 22	Premature ovarian insufficiency, Female infertility, Elevated circulating follicle stimulating ho...	OMIM:620548
Cardiomyopathy, Dilated, 1R	Restrictive cardiomyopathy, Dilated cardiomyopathy, Congestive heart failure, Left ventricular no...	OMIM:613424
Autosomal Recessive Spastic Paraplegia Type 69	Cataract	ORPHA:401830
Retinitis Pigmentosa 50	Attenuation of retinal blood vessels, Retinal flecks, Retinal detachment, Rod-cone dystrophy, Opt...	OMIM:613194
Cantu Syndrome	Congenital hypertrophy of left ventricle, Lymphedema, Umbilical hernia, Cardiomegaly, Bicuspid ao...	OMIM:239850
Hypogonadism-Cataract Syndrome	Cataract	OMIM:240950
Edict Syndrome	Keratoconus, Microcornea, Hypoplasia of the iris, Astigmatism, Anterior polar cataract	OMIM:614303
Hemoglobin D Disease	Reduced beta/alpha synthesis ratio, Reduced hemoglobin A, Imbalanced hemoglobin synthesis, Pallor...	ORPHA:90039
Cataract 30, Multiple Types	Posterior polar cataract, Diffuse nuclear cataract, Pulverulent cataract	OMIM:116300
Spastic Paraplegia, Intellectual Disability, Nystagmus, And Obesity	Dilated third ventricle, Lateral ventricle dilatation, Limb hypertonia, Partial agenesis of the c...	OMIM:617296
Tetramelic Monodactyly	Oligodactyly, Split hand	ORPHA:2564
Cataract 31, Multiple Types	Posterior subcapsular cataract, Anterior subcapsular cataract, Nuclear cataract	OMIM:605387
Insulinomatosis And Diabetes Mellitus	Developmental glaucoma, Developmental cataract	OMIM:147630
Hyperinsulinemic Hypoglycemia, Familial, 8	Increased C-peptide level, Hypercholesterolemia, Hyperammonemia, Chronic constipation	OMIM:620211
Dystonia 30	Hypothalamic hamartoma, Torticollis	OMIM:619291
Reese Retinal Dysplasia	Retinal dysplasia, Remnants of the hyaloid vascular system	OMIM:266400
Retinitis Pigmentosa 70	Macular degeneration, Attenuation of retinal blood vessels, Retinal degeneration, Rod-cone dystro...	OMIM:615922
Beta-Thalassemia	Cholelithiasis, Hepatitis, Skin ulcer, Hypertrophic cardiomyopathy, Microcytic anemia, Pallor, Sp...	ORPHA:848
Citrullinemia Type Ii	Hypoalbuminemia, Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Diarr...	ORPHA:247585
Cog4-Cdg	Elevated circulating hepatic transaminase concentration, Hepatosplenomegaly, Fatal liver failure ...	ORPHA:263501
Anemia, Congenital Dyserythropoietic, Type Ib	Erythroid hyperplasia, Pallor, Splenomegaly, Reticulocytosis, Anemia of inadequate production, An...	OMIM:615631
Cataract 48	Cataract	OMIM:618415
Retinitis Pigmentosa 32	Pigmentary retinopathy, Attenuation of retinal blood vessels, Retinal degeneration, Photoreceptor...	OMIM:609913
Bilateral Acute Depigmentation Of The Iris	Abnormal corneal endothelium morphology, Pigment deposition in the trabecular meshwork, Abnormal ...	ORPHA:69736
Cataract 6, Multiple Types	Posterior polar cataract, Developmental cataract	OMIM:116600
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency	Diarrhea, Cholestasis, Increased LDL cholesterol concentration, Hyperbilirubinemia, Hyperthreonin...	ORPHA:247598
Choanal Atresia And Lymphedema	Pericardial effusion, Lymphedema	OMIM:613611
Stickler Syndrome Type 2	Cataract, Corneal opacity	ORPHA:90654
Leukoencephalopathy With Vanishing White Matter 2	Cataract	OMIM:620312
Blepharoptosis, Myopia, And Ectopia Lentis	Ectopia lentis	OMIM:110150
Orofaciodigital Syndrome Type 10	Polysyndactyly of hallux, Radial deviation of the hand, Short tibia, Short toe, Preaxial polydact...	ORPHA:2756
Acute Peripheral Arterial Occlusion	Abnormal capillary physiology, Supraventricular tachycardia, Leukocytosis, Limb muscle weakness, ...	ORPHA:90064
Tibial Hemimelia	Aplasia of the 2nd metacarpal, Short tibia, Radial club hand, Cutaneous finger syndactyly, Talipe...	ORPHA:93322
Distal Myopathy, Tateyama Type	Abnormal circulating creatine kinase concentration, Hypercholesterolemia	ORPHA:488650
Chromosome 17P13.3, Telomeric, Duplication Syndrome	3-4 finger syndactyly, Short tibia, Short toe, Absent hallux, Oligodactyly, Ectrodactyly, Contrac...	OMIM:612576
Congenital Disorder Of Glycosylation, Type Iiaa	Hepatic fibrosis, Hepatic failure, Nodular regenerative hyperplasia of liver, Biliary cirrhosis, ...	OMIM:620454
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 3	Cataract	OMIM:609115
Cardiomyopathy, Dilated, 1A	Dilated cardiomyopathy, Atrial flutter, Third degree atrioventricular block, Second degree atriov...	OMIM:115200
Microcephaly-Microcornea Syndrome, Seemanova Type	Cataract, Microcornea, Microphthalmia	ORPHA:2528
Nphp3-Related Meckel-Like Syndrome	Abnormal liver parenchyma morphology, Abnormality of the pancreas, Abnormal biliary tract morphology	ORPHA:3032
Cataract 24	Anterior lenticonus, Anterior polar cataract	OMIM:601202
Meckel Syndrome, Type 8	Pericardial effusion, Occipital encephalocele, Encephalocele	OMIM:613885
Dominant Beta-Thalassemia	Hypoplasia of the musculature, Reduced hemoglobin A, Extramedullary hematopoiesis, Persistence of...	ORPHA:231226
Analbuminemia	Hypoalbuminemia, Increased LDL cholesterol concentration, Hypercholesterolemia, Elevated circulat...	OMIM:616000
Hb Bart'S Hydrops Fetalis	Congestive heart failure, Pallor, Abnormal hemoglobin, Splenomegaly, Anemia, Hydrocephalus, Hepat...	ORPHA:163596
Cataract 15, Multiple Types	Lamellar cataract, Nuclear cataract, Cortical cataract	OMIM:615274
Cataract 33, Multiple Types	Lamellar cataract, Nuclear cataract, Cortical cataract	OMIM:611391
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation	Atrial fibrillation, Muscular dystrophy, Dilated cardiomyopathy, Sinoatrial block, Atrial flutter...	ORPHA:300751
Galactokinase Deficiency	Hepatosplenomegaly, Hypercholesterolemia, Increased level of galactitol in plasma, Hepatomegaly, ...	ORPHA:79237
Cataract 20, Multiple Types	Lamellar cataract, Nuclear cataract, Sutural cataract, Cortical cataract	OMIM:116100
Thiamine-Responsive Megaloblastic Anemia Syndrome	Congestive heart failure, Pallor, Ventricular septal defect, Paroxysmal atrial tachycardia, Megal...	ORPHA:49827
Retinitis Pigmentosa 13	Attenuation of retinal blood vessels, Asteroid hyalosis, Cystoid macular edema, Retinal degenerat...	OMIM:600059
Chromosome 11P13 Deletion Syndrome, Distal	Aniridia	OMIM:616902
ERI1-related disease	Slender metacarpals, Oligodactyly, Intrauterine growth retardation, Clinodactyly of the 5th finge...	OMIM:608739
Congenital Cataract-Hypertrophic Cardiomyopathy-Mitochondrial Myopathy Syndrome	Cataract, Corneal dystrophy	ORPHA:1369
Corneal Dystrophy, Fuchs Endothelial, 1	Corneal guttata, Corneal degeneration, Descemet Membrane Folds, Corneal stromal edema, Corneal dy...	OMIM:136800
Hyperinsulinism Due To Ucp2 Deficiency	Diffuse pancreatic islet hyperplasia, Hypertrophic cardiomyopathy, Palpitations, Pallor, Syncope,...	ORPHA:276556
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency	Diffuse pancreatic islet hyperplasia, Hypertrophic cardiomyopathy, Focal pancreatic islet hyperpl...	ORPHA:276575
Isolated Split Hand-Split Foot Malformation	Oligodactyly, Absent hand, Split hand, Finger syndactyly	ORPHA:2440
Acrofacial Dysostosis Syndrome Of Rodriguez	Absent forearm, Short tibia, Clinodactyly, Oligodactyly, Overlapping toe, Single transverse palma...	OMIM:201170
Cataract 40	Nuclear cataract, Sutural cataract	OMIM:302200
Duplication Of The Pituitary Gland	Encephalocele, Agenesis of corpus callosum, Abnormal hypothalamus morphology, Abnormal pituitary ...	ORPHA:314621
Diencephalic-Mesencephalic Junction Dysplasia Syndrome 2	Decreased thalamic volume	OMIM:618646
Basal Ganglia Calcification, Idiopathic, 8, Autosomal Recessive	Thalamic calcification, Hypomimic face	OMIM:618824
Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome	Atrioventricular canal defect, Interhypothalamic adhesion, Dextrocardia, Agenesis of corpus callosum	OMIM:618929
Myopia, High, With Cataract And Vitreoretinal Degeneration	Lens subluxation, Cataract	OMIM:614292
Xeroderma Pigmentosum, Complementation Group G	Cataract, Microphthalmia	OMIM:278780
Spinocerebellar Ataxia With Axonal Neuropathy Type 1	Hypoalbuminemia, Hypercholesterolemia	ORPHA:94124
Split-Hand/Foot Malformation 1	Finger aplasia, Broad hallux, Ectrodactyly, Clinodactyly, Foot oligodactyly, Triphalangeal thumb,...	OMIM:183600
Bile Acid Synthesis Defect, Congenital, 1	Intrahepatic cholestasis, Hepatic failure, Elevated circulating hepatic transaminase concentratio...	OMIM:607765
Beta-Thalassemia Major	Hypoplasia of the musculature, Reduced hemoglobin A, Extramedullary hematopoiesis, Persistence of...	ORPHA:231214
Congenital Muscular Dystrophy With Cerebellar Involvement	Muscular dystrophy, Decreased thalamic volume, Occipital encephalocele, Ventriculomegaly, Cardiom...	ORPHA:370959
Cenani-Lenz Syndrome	Toe syndactyly, Synostosis of carpal bones, Finger syndactyly, Elbow dislocation, Short thumb, Ol...	ORPHA:3258
Congenital Tricuspid Valve Dysplasia	Tricuspid regurgitation, Intrauterine growth retardation, Abnormal tricuspid valve annulus morpho...	ORPHA:555874
Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism	Dilated third ventricle, Lateral ventricle dilatation, Agenesis of corpus callosum	OMIM:619244
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1	Hypoalbuminemia, Hypercholesterolemia	OMIM:607250
Pallister-Hall Syndrome	Toe syndactyly, Postaxial foot polydactyly, Distal shortening of limbs, Neonatal death, Ventricul...	OMIM:146510
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency	Diffuse pancreatic islet hyperplasia, Hypertrophic cardiomyopathy, Palpitations, Pallor, Syncope,...	ORPHA:276580
Morm Syndrome	Cataract	ORPHA:75858
Absence Deformity Of Leg-Cataract Syndrome	Cataract	ORPHA:2310
Hao-Fountain Syndrome Due To 16P13.2 Microdeletion	Ventriculomegaly, Flexion contracture, Dilated third ventricle, Hydrocephalus	ORPHA:500055
X-Linked Endothelial Corneal Dystrophy	Nuclear cataract, Band keratopathy, Abnormal corneal endothelium morphology, Corneal opacity	ORPHA:293621
Microcephaly-Micromelia Syndrome	Absent thumb, Short tibia, Micromelia, Oligodactyly, Intrauterine growth retardation, Humeroradia...	OMIM:251230
Split-Hand/Foot Malformation 6	Finger aplasia, Toe syndactyly, Finger syndactyly, Foot oligodactyly, Split hand, Split foot	OMIM:225300
Vitreoretinal Degeneration, Snowflake Type	Corneal guttata, Cataract	OMIM:193230
Retinitis Pigmentosa 9	Cataract	OMIM:180104
Glycogen Storage Disease Of Heart, Lethal Congenital	Biventricular hypertrophy, Myopathy, Pulmonary edema, Increased myocardial glycogen content, Vent...	OMIM:261740
Nail-Patella Syndrome	Keratoconus, Microcornea, Cataract, Lester's sign, Antecubital pterygium, Microphakia	OMIM:161200
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency	Hepatic fibrosis, Portal fibrosis, Elevated circulating hepatic transaminase concentration, Diarr...	ORPHA:264580
Split-Hand With Congenital Nystagmus, Fundal Changes, And Cataracts	Cataract	OMIM:183800
Cataract 16, Multiple Types	Posterior polar cataract, Lenticonus, Developmental cataract	OMIM:613763
Senior-Loken Syndrome 7	Retinal degeneration	OMIM:613615
Kahrizi Syndrome	Cataract, Iris coloboma	OMIM:612713
Neurodevelopmental Disorder With Seizures And Brain Atrophy	Decreased thalamic volume, Arthrogryposis multiplex congenita	OMIM:619072
Dysbetalipoproteinemia	Xanthelasma, Increased LDL cholesterol concentration, Hypertriglyceridemia, Hepatic steatosis, Hy...	ORPHA:412
Retinal Dystrophy And Iris Coloboma With Or Without Cataract	Iris coloboma, Posterior synechiae of the anterior chamber, Developmental cataract	OMIM:616722
Hypercholesterolemia, Familial, 3	Xanthelasma, Hypercholesterolemia, Abnormal LDL cholesterol concentration	OMIM:603776
Corneal Dystrophy, Fuchs Endothelial, 8	Corneal guttata, Corneal dystrophy	OMIM:615523
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction	Dilated cardiomyopathy, Endocardial fibrosis, Congestive heart failure, Left ventricular noncompa...	OMIM:601493
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency	Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Diarrhea, Vomiting, Sp...	ORPHA:79240
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy	Ventriculomegaly, Dilated third ventricle, Occipital encephalocele, Lateral ventricle dilatation,...	ORPHA:397715
Myopathic Ehlers-Danlos Syndrome	High, narrow palate, Increased variability in muscle fiber diameter, Joint contracture of the han...	ORPHA:536516
Amoebic Keratitis	Cataract, Corneal perforation, Abnormal cornea morphology, Punctate opacification of the cornea, ...	ORPHA:67043
Ectopia Lentis 1, Isolated, Autosomal Dominant	Microspherophakia, Shallow anterior chamber, Ectopia lentis	OMIM:129600
Hereditary Spherocytosis	Spontaneous hemolytic crises, Cholelithiasis, Restrictive cardiomyopathy, Increased mean corpuscu...	ORPHA:822
Hepatoportal Sclerosis	Hypoalbuminemia, Nodular regenerative hyperplasia of liver, Periportal fibrosis, Elevated circula...	ORPHA:64743
Basel-Vanagaite-Smirin-Yosef Syndrome	Dilated third ventricle, Lateral ventricle dilatation, Contracture of the proximal interphalangea...	ORPHA:464738
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction	Atrioventricular block, Dilated cardiomyopathy, Endocardial fibrosis, Cardiomyocyte hypertrophy, ...	OMIM:612158
Supernumerary Nostril	Microcornea, Developmental cataract	ORPHA:141096
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities	Dilated third ventricle	OMIM:619725
Impaired Intellectual Development, Truncal Obesity, Retinal Dystrophy, And Micropenis Syndrome	Cataract	OMIM:610156
Premature Ovarian Failure 6	Elevated circulating luteinizing hormone level, Female infertility, Streak ovary, Elevated circul...	OMIM:612310
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities	Hydrocephalus, Dilated third ventricle, Lateral ventricle dilatation, Ventricular septal defect	OMIM:619575
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability	Cataract, Posterior embryotoxon, Corneal opacity, Microphthalmia, Iris coloboma	ORPHA:1473
Hyperferritinemia With Or Without Cataract	Cataract, Nuclear cataract, Anterior subcapsular cataract, Pulverulent cataract	OMIM:600886
Premature Ovarian Failure 13	Amenorrhea, Oligomenorrhea, Female infertility, Elevated circulating follicle stimulating hormone...	OMIM:617442
Cholestasis-Lymphedema Syndrome	Gastrointestinal hemorrhage, Hyperlipidemia, Splenomegaly, Portal hypertension, Biliary tract abn...	ORPHA:1414
Premature Ovarian Failure 20	Elevated circulating luteinizing hormone level, Female infertility, Elevated circulating follicle...	OMIM:619938
Bile Acid Synthesis Defect, Congenital, 2	Intrahepatic cholestasis, Hepatic failure, Elevated circulating hepatic transaminase concentratio...	OMIM:235555
Distal Limb Deficiencies-Micrognathia Syndrome	Aplasia/Hypoplasia of the radius, Oligodactyly, Abnormality of the wrist, Abnormal morphology of ...	ORPHA:1307
Peroxisome Biogenesis Disorder 8A (Zellweger)	Cataract	OMIM:614876
Lymphatic Malformation 7	Facial edema, Chylothorax, Lymphedema, Ascites, Increased nuchal translucency, Pleural effusion, ...	OMIM:617300
Cataract-Aberrant Oral Frenula-Growth Delay Syndrome	Cataract	ORPHA:1373
Hypercholesterolemia, Familial, 2	Xanthelasma, Increased LDL cholesterol concentration, Hypercholesterolemia	OMIM:144010
Acquired Idiopathic Sideroblastic Anemia	Normocytic anemia, Megaloblastic erythroid hyperplasia, Hypochromic anemia, Congestive heart fail...	ORPHA:75564
Leukoencephalopathy With Dystonia And Motor Neuropathy	Focal T2 hyperintense thalamic lesion, Torticollis	OMIM:613724
Hypertelorism And Other Facial Dysmorphism, Brachydactyly, Genital Abnormalities, Impaired Intellectual Development, And Recurrent Inflammatory Episodes	Pericardial effusion	OMIM:614684
Craniofaciofrontodigital Syndrome	Aortic valve stenosis, Lower eyelid edema, Gastrointestinal hemorrhage, Congestive heart failure,...	ORPHA:363705
Coloboma Of Optic Nerve	Retinal detachment, Optic disc coloboma	OMIM:120430
Optic Atrophy 7 With Or Without Auditory Neuropathy	Hypertrophic cardiomyopathy, Pallor	OMIM:612989
Bile Acid Synthesis Defect, Congenital, 3	Hepatic bridging fibrosis, Intrahepatic cholestasis, Hepatic failure, Diarrhea, Hematochezia, Hep...	OMIM:613812
Asparagine Synthetase Deficiency	Ventriculomegaly, Dilated third ventricle, Dilated fourth ventricle, Limb hypertonia, Diaphragmat...	OMIM:615574
Primary Biliary Cholangitis	Hypoalbuminemia, Hepatic fibrosis, Hepatic failure, Biliary cirrhosis, Hepatitis, Abnormal circul...	ORPHA:186
Biliary Atresia, Extrahepatic	Portal fibrosis, Elevated circulating hepatic transaminase concentration, Increased total bilirub...	OMIM:210500
X-Linked Sideroblastic Anemia	Elevated circulating hepatic transaminase concentration, Pallor, Splenomegaly, Hyperpigmentation ...	ORPHA:75563
Neurodevelopmental Disorder With Intracranial Hemorrhage, Seizures, And Spasticity	Hydranencephaly, Dilated third ventricle, Lateral ventricle dilatation, Patent foramen ovale, Car...	OMIM:620371
Congenital Generalized Lipodystrophy	Hepatic steatosis, Cirrhosis, Hypercholesterolemia, Hypertriglyceridemia, Hepatomegaly, Increased...	ORPHA:528
Mitochondrial Complex Iii Deficiency, Nuclear Type 10	Hypertrophic cardiomyopathy, Intrauterine growth retardation, Ventricular septal defect, Persiste...	OMIM:618775
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 1	Hepatic failure, Secundum atrial septal defect, Umbilical hernia, Oligodactyly, Clinodactyly of t...	OMIM:619758
Coasy Protein-Associated Neurodegeneration	Abnormal thalamus morphology	ORPHA:397725
Leber Congenital Amaurosis 16	Cataract	OMIM:614186
Alexander Disease Type I	Hydrocephalus, Abnormal thalamic MRI signal intensity	ORPHA:363717
Hydrocephalus, Endocardial Fibroelastosis, And Cataracts	Developmental cataract	OMIM:600559
Exudative Vitreoretinopathy 2, X-Linked	Exudative vitreoretinopathy, Peripheral retinal avascularization, Retinal vascular tortuosity, Su...	OMIM:305390
Upper Limb Defect-Eye And Ear Abnormalities Syndrome	Cataract	ORPHA:2489
Otodental Syndrome	Cataract, Microcornea, Microphthalmia, Lens coloboma, Iris coloboma	ORPHA:2791
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development	Fusion of the left and right thalami, Hydrocephalus, Agenesis of corpus callosum	OMIM:617542
Bile Acid Synthesis Defect, Congenital, 5	Hepatic fibrosis, Hepatic failure, Elevated circulating hepatic transaminase concentration, Porta...	OMIM:616278
Neurodevelopmental Disorder With Short Stature, Prominent Forehead, And Feeding Difficulties	Multiple muscular ventricular septal defects, Polyhydramnios, Limb hypertonia, Atrial septal defe...	OMIM:620070
Arrhythmogenic Cardiomyopathy With Variable Ectodermal Abnormalities	Dilated cardiomyopathy, Ventricular bigeminy, Tricuspid regurgitation, Left ventricular systolic ...	OMIM:620519
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome	Dysplastic corpus callosum, Dilated third ventricle, Lateral ventricle dilatation	ORPHA:544488
Cardiomyopathy, Dilated, 1Ii	Cataract	OMIM:615184
Primary Myelofibrosis	Increased circulating lactate dehydrogenase concentration, Extramedullary hematopoiesis, Hepatosp...	ORPHA:824
Cholestasis, Progressive Familial Intrahepatic, 3	Intrahepatic cholestasis, Elevated circulating hepatic transaminase concentration, Portal fibrosi...	OMIM:602347
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly	Aplasia/Hypoplasia of fingers, Toe syndactyly, Finger syndactyly, Radial bowing, Clinodactyly, Hy...	OMIM:228930
American Trypanosomiasis	Cardiomyopathy, Congestive heart failure, Pallor, Splenomegaly, Hepatomegaly, Aganglionic megacol...	ORPHA:3386
Microcephaly, Postnatal Progressive, With Seizures And Brain Atrophy	Decreased thalamic volume	OMIM:613668
Left Ventricular Noncompaction 10	Dilated cardiomyopathy, Congestive heart failure, Left ventricular noncompaction, Syncope, Pulmon...	OMIM:615396
Idiopathic Steroid-Resistant Nephrotic Syndrome	Hypoalbuminemia, Abnormal circulating lipid concentration, Peritonitis, Hypercholesterolemia, Hyp...	ORPHA:567548
Cataracts, Hearing Impairment, Nephrotic Syndrome, And Enterocolitis 2	Cataract	OMIM:620425
Idiopathic Pulmonary Hemosiderosis	Diffuse alveolar hemorrhage, Hepatosplenomegaly, Pallor, Cardiomegaly, Iron deficiency anemia, He...	ORPHA:99931
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1	Pigmentary retinopathy, Hypochromic anemia, Generalized limb muscle atrophy, Microcytic anemia, S...	OMIM:600462
Immunodeficiency 47	Hepatic bridging fibrosis, Hepatic fibrosis, Accessory spleen, Elevated circulating hepatic trans...	OMIM:300972
X-Linked Immunoneurologic Disorder	Cataract	ORPHA:2571
Cyclic Vomiting Syndrome	Pallor, Growth delay, Cardiomyopathy	OMIM:500007
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy	Restrictive cardiomyopathy, Endocardial fibroelastosis, Nonimmune hydrops fetalis, Pericardial ef...	OMIM:619313
Stickler Syndrome, Type V	Cataract	OMIM:614284
Wagner Vitreoretinopathy	Cataract	OMIM:143200
Craniopharyngioma	Increased circulating prolactin concentration, Hypopituitarism, Abnormal hypothalamus morphology,...	ORPHA:54595
Usher Syndrome Type 3	Iris hypopigmentation, Cataract, Astigmatism	ORPHA:231183
Aniridia-Absent Patella Syndrome	Cataract, Aniridia	ORPHA:1069
Beta-Thalassemia Intermedia	Extramedullary hematopoiesis, Persistence of hemoglobin F, Hepatosplenomegaly, High-output conges...	ORPHA:231222
WAGR 11p13 deletion syndrome	Aniridia	DECIPHER:35
Left Ventricular Noncompaction 1	Hypoplastic left heart, Congestive heart failure, Left ventricular noncompaction, Left ventricula...	OMIM:604169
Galactose Epimerase Deficiency	Cataract	ORPHA:79238
Left Ventricular Noncompaction 8	Dilated cardiomyopathy, Congestive heart failure, Left ventricular noncompaction, Left ventricula...	OMIM:615373
Combined Oxidative Phosphorylation Defect Type 23	Hypertrophic cardiomyopathy, Left ventricular hypertrophy, Right ventricular hypertrophy, Abnorma...	ORPHA:444013
Exudative Vitreoretinopathy 1	Retinal exudate, Exudative vitreoretinopathy, Ectopic fovea, Posterior vitreous detachment, Vitre...	OMIM:133780
Corneal Endothelial Dystrophy	Corneal dystrophy, Opacification of the corneal stroma, Abnormal Descemet membrane morphology, In...	OMIM:217700
Glycogen Storage Disease Ixc	Elevated circulating hepatic transaminase concentration, Splenomegaly, Increased hepatic glycogen...	OMIM:613027
Spinocerebellar Ataxia With Epilepsy	Focal T2 hyperintense thalamic lesion, Myopathy	ORPHA:254881
Absent Radius-Anogenital Anomalies Syndrome	Oligodactyly, Hydrocephalus, Hypoplasia of the radius, Ectrodactyly	ORPHA:3016
Fanconi Anemia, Complementation Group I	Absent thumb, Short 1st metacarpal, Short thumb, Intrauterine growth retardation, Pallor, Patent ...	OMIM:609053
Anemia, Hypochromic Microcytic, With Iron Overload 2	Sideroblastic anemia, Pallor, Splenomegaly, Anemia, Elevated hepatic iron concentration, Poikiloc...	OMIM:615234
Basal Ganglia Calcification, Idiopathic, 5	Thalamic calcification	OMIM:615483
Peroxisome Biogenesis Disorder 11B	Cataract	OMIM:614885
Leishmaniasis	Elevated circulating hepatic transaminase concentration, Skin ulcer, Pancytopenia, Leukopenia, Pa...	ORPHA:507
Hennekam Lymphangiectasia-Lymphedema Syndrome 1	Joint contracture of the hand, Umbilical hernia, Lymphedema, Mild postnatal growth retardation, P...	OMIM:235510
Retinitis Pigmentosa 84	Cataract	OMIM:618220
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome	Albinism, Hypopigmentation of the skin, Pallor, Short stature, Hypopigmentation of hair	ORPHA:2786
Hypocomplementemic Urticarial Vasculitis	Angioedema, Ascites, Abnormal heart valve morphology, Pleural effusion, Pericardial effusion, Sma...	ORPHA:36412
Galactose Mutarotase Deficiency	Cataract	ORPHA:570422
Congenital Enterovirus Infection	Hypotension, Fetal ascites, Cardiomyopathy, Pleural effusion, Polyhydramnios, Myocarditis, Hydrop...	ORPHA:292
Cahmr Syndrome	Lamellar cataract	OMIM:211770
Tubulinopathy-Associated Dysgyria	Ventriculomegaly, Abnormal thalamus morphology	ORPHA:467166
Combined Oxidative Phosphorylation Deficiency 51	Focal T2 hyperintense thalamic lesion	OMIM:619057
Microgastria-Limb Reduction Defect Syndrome	Aplastic clavicle, Elbow dislocation, Short thumb, Ectrodactyly, Oligodactyly, Abnormality of the...	ORPHA:2538
Congenital Disorder Of Glycosylation, Type Il	Ascites, Hydrops fetalis, Pericardial effusion, Atrial septal defect	OMIM:608776
Hyperlipoproteinemia, Type Id	Increased circulating chylomicron concentration, Decreased HDL cholesterol concentration, Splenom...	OMIM:615947
Dietary Iron Overload Disease	Hepatic bridging fibrosis, Hepatic fibrosis, Increased circulating cortisol level, Abnormal pancr...	ORPHA:139507
Pyruvate Kinase Deficiency Of Red Cells	Cholelithiasis, Reduced red cell pyruvate kinase level, Intrauterine growth retardation, Erythroi...	OMIM:266200
Anterior Segment Dysgenesis 6	Posterior synechiae of the anterior chamber, Abnormal Descemet membrane morphology, Corneal neova...	OMIM:617315
Autosomal Recessive Spastic Paraplegia Type 11	Hypothalamic atrophy, Distal amyotrophy, Lateral ventricle dilatation, Lower limb muscle weakness...	ORPHA:2822
Long-Olsen-Distelmaier Syndrome	Cataract, Microspherophakia, Optic nerve hypoplasia	OMIM:620609
Aniridia, Partial, With Unilateral Renal Agenesis And Psychomotor Retardation	Aniridia, Developmental glaucoma	OMIM:206750
Aicardi-Goutieres Syndrome 9	Lower limb hypertonia, Ascites, Intrauterine growth retardation, Portal hypertension, Left ventri...	OMIM:619487
Basal Ganglia Calcification, Idiopathic, 7, Autosomal Recessive	Thalamic calcification	OMIM:618317
Myopia 3, Autosomal Dominant	Retinal detachment	OMIM:603221
Myopia 25, Autosomal Dominant	Retinal detachment	OMIM:617238
Myopia 2, Autosomal Dominant	Retinal detachment	OMIM:160700
Myopia 5, Autosomal Dominant	Retinal detachment	OMIM:608474
Very Long Chain Acyl-Coa Dehydrogenase Deficiency	Atrioventricular block, Dilated cardiomyopathy, Exercise-induced rhabdomyolysis, Patent foramen o...	ORPHA:26793
Martsolf Syndrome 2	Cataract, Developmental cataract	OMIM:619420
Aicardi Syndrome	Dilated third ventricle, Lateral ventricle dilatation, Choroid plexus cyst, Spina bifida, Partial...	OMIM:304050
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 2	T2 hypointense thalamus	OMIM:618193
Neurodegeneration, Childhood-Onset, With Multisystem Involvement Due To Mitochondrial Dysfunction	Pericardial effusion, Skeletal muscle atrophy, Cardiomyopathy	OMIM:620089
Diamond-Blackfan Anemia 1	Persistence of hemoglobin F, Ventricular septal defect, Atrial septal defect, Neutropenia, Small ...	OMIM:105650
Kniest Dysplasia	Aplasia/Hypoplasia of the lens, Cataract, Lens luxation	ORPHA:485
Cholestasis, Progressive Familial Intrahepatic, 9	Malformation of the hepatic ductal plate, Intrahepatic cholestasis, Diarrhea, Micronodular cirrho...	OMIM:619849
Vitreoretinopathy, Neovascular Inflammatory	Posterior retinal neovascularization, Vitreoretinopathy, Peripheral retinal neovascularization, V...	OMIM:193235
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation	Hypercholesterolemia	ORPHA:254531
Pulmonary Non-Tuberculous Mycobacterial Infection	Pericardial effusion, Pleural effusion	ORPHA:411703
Drug-Induced Lupus Erythematosus	Pericardial effusion, Prolonged QTc interval, Pericarditis	ORPHA:231111
Retinitis Pigmentosa 4	Cataract	OMIM:613731
Microphthalmia, Isolated 5	Cataract, Microphthalmia	OMIM:611040
Dermatitis, Atopic	Conjunctivitis, Keratoconus, Cataract	OMIM:603165
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency	Increased mean corpuscular volume, Increased circulating lactate dehydrogenase concentration, Pan...	OMIM:613839
Tetramelic Monodactyly	Hand monodactyly, Split hand, Split foot, Foot monodactyly	OMIM:187510
Pediatric Hepatocellular Carcinoma	Hepatic fibrosis, Vomiting, Hepatic necrosis, Portal vein thrombosis, Hepatomegaly, Elevated circ...	ORPHA:33402
Mitochondrial Complex Iv Deficiency, Nuclear Type 3	Focal T2 hyperintense thalamic lesion, Cardiomyopathy	OMIM:619046
Ring Chromosome Y Syndrome	Male hypogonadism, Female infertility, Azoospermia, Streak ovary, Cryptorchidism, Abnormal sperma...	ORPHA:261529
Adams-Oliver Syndrome 6	Hepatic fibrosis, Foot oligodactyly, Portal hypertension, Splenomegaly, Truncus arteriosus, Ventr...	OMIM:616589
Lethal Intrauterine Growth Restriction-Cortical Malformation-Congenital Contractures Syndrome	Hydranencephaly, Camptodactyly of finger, Multiple joint contractures, Abnormality of the diencep...	ORPHA:2570
Rheumatic Fever	Erythema, Epistaxis, Abnormal heart valve morphology, Pallor, Abnormal aortic valve morphology, A...	ORPHA:3099
Isolated Ectopia Lentis	Cataract, Ectopia lentis, Ectopia pupillae	ORPHA:1885
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency	Abnormal heart morphology, Abnormal thalamus morphology, Ventricular septal defect	ORPHA:404440
3P25.3 Microdeletion Syndrome	Skeletal muscle atrophy, Abnormal thalamus morphology, Knee flexion contracture, Ventricular sept...	ORPHA:435638
Achromatopsia 3	Cataract	OMIM:262300
Coloboma-Obesity-Hypogenitalism-Impaired Intellectual Development Syndrome	Cataract, Microphthalmia	OMIM:601794
Norrie Disease	Cataract, Hypoplasia of the iris, Opacification of the corneal stroma, Leukocoria, Corneal opacit...	OMIM:310600
Peripheral Cone Dystrophy	Pallor	OMIM:609021
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy	Cataract, Corneal scarring, Microphthalmia, Buphthalmos, Iris coloboma	OMIM:212550
Leber Congenital Amaurosis 2	Cataract, Keratoconus	OMIM:204100
Coloboma, Ocular, Autosomal Recessive	Lens subluxation, Cataract, Iris coloboma	OMIM:216820
Cataracts, Spastic Paraparesis, And Speech Delay	Cataract	OMIM:619338
Evans Syndrome	Epistaxis, Pallor, Autoimmune hemolytic anemia, Petechiae, Syncope, Neutropenia in presence of an...	ORPHA:1959
Methylmalonic Acidemia With Homocystinuria, Type Cbld	Pallor	ORPHA:79283
Amoebiasis Due To Free-Living Amoebae	Abnormal hypothalamus morphology, Myocardial necrosis, Facial palsy	ORPHA:68
Fanconi Anemia, Complementation Group D2	Pancytopenia, Anemic pallor, Neutropenia, Absent radius, Leukemia, Patent ductus arteriosus, Annu...	OMIM:227646
Bile Acid Conjugation Defect 1	Hepatic failure, Elevated circulating aspartate aminotransferase concentration, Elevated circulat...	OMIM:619232
Smith-Magenis Syndrome	Constipation, Hypercholesterolemia, Hypertriglyceridemia	OMIM:182290
Lipodystrophy, Familial Partial, Type 5	Hepatomegaly, Hepatic steatosis, Increased C-peptide level, Hypertriglyceridemia	OMIM:615238
Hyperinsulinism Due To Hnf1A Deficiency	Palpitations, Pallor, Syncope, Hepatomegaly, Tachycardia	ORPHA:324575
Lysosomal Acid Lipase Deficiency	Hepatic fibrosis, Hepatic failure, Elevated circulating hepatic transaminase concentration, Diarr...	ORPHA:275761
Temple Syndrome	Hypercholesterolemia, Hypertriglyceridemia	OMIM:616222
Benign Paroxysmal Torticollis Of Infancy	Pallor, Torticollis	ORPHA:71518
Weill-Marchesani Syndrome 4	Ectopia lentis, Posterior synechiae of the anterior chamber, Phakodonesis, Iridodonesis, Shallow ...	OMIM:613195
Oculoskeletodental Syndrome	Dysplastic corpus callosum, Abnormal thalamus morphology	ORPHA:557003
Morning Glory Disc Anomaly	Cataract	ORPHA:35737
Idiopathic Hypereosinophilic Syndrome	Swelling of proximal interphalangeal joints, Hepatosplenomegaly, Chronic hepatitis, Myocardial eo...	ORPHA:3260
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome	Cataract, Microphthalmia	ORPHA:363741
Primary Intestinal Lymphangiectasia	Generalized edema, Ascites, Pleural effusion, Pericardial effusion, Growth delay, Edema	ORPHA:90362
Mosaic Trisomy 9	Elbow dislocation, Endocardial fibroelastosis, Ventricular septal defect, Talipes equinovarus, At...	ORPHA:99776
Ataxia-Oculomotor Apraxia 4	Hypoalbuminemia, Hypercholesterolemia, Elevated circulating alpha-fetoprotein concentration	OMIM:616267
Cach Syndrome	T2 hypointense thalamus, Flexion contracture, Arthrogryposis multiplex congenita, Lateral ventric...	ORPHA:135
Acute Myelomonocytic Leukemia	Pallor, Leukocytosis, Eosinophilia, Thrombocytopenia, Anemia	ORPHA:517
Cone-Rod Dystrophy 11	Pallor	OMIM:610381
Atrial Standstill	Left ventricular noncompaction, Arrhythmia, Atrial standstill, Muscular dystrophy, Abnormal heart...	ORPHA:1344
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia	Hypoalbuminemia, Hypercholesterolemia, Elevated circulating creatine kinase concentration	OMIM:208920
Juvenile Neuronal Ceroid Lipofuscinosis	Abnormal heart morphology, Focal T2 hyperintense thalamic lesion	ORPHA:79264
Diamond-Blackfan Anemia	Macrocytic dyserythropoietic anemia, Persistence of hemoglobin F, Cleft soft palate, Ventricular ...	ORPHA:124
Aniridia 1	Cataract, Ectopia lentis, Hypoplasia of the iris, Ectopia pupillae, Aniridia, Corneal neovascular...	OMIM:106210
Acute Interstitial Pneumonia	Pericardial effusion, Peripheral edema, Hypertension, Pleural effusion	ORPHA:79126
Cardiac-Urogenital Syndrome	Hypoplastic left heart, Coronary sinus enlargement, Biventricular hypertrophy, Tetralogy of Fallo...	OMIM:618280
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome	Tachycardia, Pallor, Pancreatic islet-cell hyperplasia	ORPHA:276608
Pediatric Systemic Lupus Erythematosus	Ascites, Pleural effusion, Myositis, Raynaud phenomenon, Pericardial effusion, Edema	ORPHA:93552
Leber Congenital Amaurosis	Cataract, Keratoconus	ORPHA:65
Parenteral Nutrition-Associated Cholestasis	Hepatic fibrosis, Cholelithiasis, Hepatic failure, Elevated circulating hepatic transaminase conc...	ORPHA:567983
Hypobetalipoproteinemia, Familial, 1	Decreased HDL cholesterol concentration, Hypocholesterolemia, Elevated circulating aspartate amin...	OMIM:615558
3-Hydroxy-3-Methylglutaric Aciduria	Hypotension, Dilated cardiomyopathy, Elevated circulating hepatic transaminase concentration, Leu...	ORPHA:20
Ciliary Dyskinesia, Primary, 37	Female infertility, Goiter	OMIM:617577
Lysinuric Protein Intolerance	Diarrhea, Increased LDL cholesterol concentration, Hepatosplenomegaly, Hyperglycinemia, Cirrhosis...	ORPHA:470
Laron Syndrome	Hypercholesterolemia	ORPHA:633
Pulmonary Capillary Hemangiomatosis	Diffuse alveolar hemorrhage, Right ventricular failure, Hemothorax, Pleural effusion, Pulmonary e...	ORPHA:199241
Deafness-Lymphedema-Leukemia Syndrome	Acute leukemia, Leukocytosis, Splenomegaly, Pallor, Thrombocytopenia, Hepatomegaly, Abnormal neut...	ORPHA:3226
Alkuraya-Kucinskas Syndrome	Pleural effusion, Camptodactyly, Pericardial effusion, Arthrogryposis multiplex congenita, Edema	OMIM:617822
Leber Congenital Amaurosis 8	Cataract, Keratoconus	OMIM:613835
Spinocerebellar Ataxia With Axonal Neuropathy Type 2	Hypoalbuminemia, Elevated circulating creatine kinase concentration, Hypercholesterolemia, Dyspha...	ORPHA:64753
Alpha-Thalassemia	Generalized edema, Congestive heart failure, Pleural effusion, Pericardial effusion, Hydrops fetalis	ORPHA:846
Ataxia With Vitamin E Deficiency	Xanthelasma, Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia	OMIM:277460
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation	Abnormal thalamus morphology, Lateral ventricle dilatation, Congenital fibrosis of extraocular mu...	ORPHA:300570
Combined Oxidative Phosphorylation Defect Type 7	Distal amyotrophy, Skeletal muscle atrophy, Upper limb muscle weakness, Lower limb muscle weaknes...	ORPHA:254930
Weill-Marchesani Syndrome	Cataract, Ectopia lentis	ORPHA:3449
Lipodystrophy, Familial Partial, Type 2	Hepatic steatosis, Hypertriglyceridemia, Hypercholesterolemia, Decreased HDL cholesterol concentr...	OMIM:151660
Polyrrhinia	Abnormal third ventricle morphology, Lateral ventricle dilatation	ORPHA:141091
Morgagni-Stewart-Morel Syndrome	Hypercholesterolemia, Hyperuricemia	ORPHA:77296
Ovarian Dysgenesis 3	Elevated circulating luteinizing hormone level, Female infertility, Aplasia of the ovary, Elevate...	OMIM:614324
Shwachman-Diamond Syndrome 1	Myocardial necrosis, Elevated circulating hepatic transaminase concentration, Proximal femoral ep...	OMIM:260400
Sandhoff Disease, Infantile Form	Mitral valve prolapse, Abnormal thalamic MRI signal intensity	ORPHA:309155
Autosomal Recessive Palmoplantar Keratoderma And Congenital Alopecia	Cataract	ORPHA:1366
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia	Hepatosplenomegaly, Pallor, Reticulocytosis, Short stature, Decreased mean corpuscular volume, He...	OMIM:611590
Wagr Syndrome	Cataract, Aplasia/Hypoplasia of the iris	ORPHA:893
Primary Lateral Sclerosis, Juvenile	Spasticity of facial muscles, Pallor	OMIM:606353
Stiff Skin Syndrome	Cataract	OMIM:184900
Sitosterolemia 1	Hyperapobetalipoproteinemia, Xanthelasma, Splenomegaly, Reduced haptoglobin level, Elevated circu...	OMIM:210250
Histiocytoid Cardiomyopathy	Junctional ectopic tachycardia, Atrioventricular block, Atrial flutter, Congestive heart failure,...	ORPHA:137675
Orofaciodigital Syndrome Type 14	Dilated third ventricle, Dilated fourth ventricle, Ventricular septal defect, Partial agenesis of...	ORPHA:434179
Degcags Syndrome	Toe syndactyly, Premature graying of hair, Cholestasis, Hepatosplenomegaly, Pancytopenia, Genu va...	OMIM:619488
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts	Elevated circulating hepatic transaminase concentration, Hepatosplenomegaly, Pallor, Reticulocyto...	ORPHA:300298
Neurodevelopmental, Jaw, Eye, And Digital Syndrome	Lens coloboma, Microphthalmia	OMIM:618914
Sensory Ataxic Neuropathy-Dysarthria-Ophthalmoparesis Syndrome	Increased variability in muscle fiber diameter, Dilated cardiomyopathy, Ragged-red muscle fibers,...	ORPHA:70595
Abdominal Obesity-Metabolic Syndrome 3	Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia	OMIM:615812
Congenital Dyserythropoietic Anemia Type Iii	Melena, Elevated circulating hepatic transaminase concentration, Increased mean corpuscular volum...	ORPHA:98870
Sclerosing Cholangitis, Neonatal	Hepatic bridging fibrosis, Hepatic failure, Portal fibrosis, Biliary cirrhosis, Cholestasis, Asci...	OMIM:617394
Woolly Hair	Cataract, Abnormal pupil morphology	ORPHA:170
Fanconi Anemia, Complementation Group E	Absent thumb, Leukemia, Short thumb, Abnormal heart morphology, Absent radius, Pancytopenia, Anem...	OMIM:600901
Pancreatic Lipase Deficiency	Steatorrhea, Hypocholesterolemia	OMIM:614338
Bartsocas-Papas Syndrome 1	Hypoplastic scapulae, Absent thumb, Short thumb, Oligodactyly, Hypoplastic iliac wing, Intrauteri...	OMIM:263650
Cardiomyopathy-Cataract-Hip Spine Disease Syndrome	Cataract	ORPHA:1345
Autosomal Recessive Malignant Osteopetrosis	Abnormal epiphysis morphology, Delayed eruption of teeth, Abnormal pulmonary valve morphology, Sp...	ORPHA:667
Baller-Gerold Syndrome	Carpal synostosis, Patellar aplasia, Limited elbow movement, Aphalangy of the hands, Aplasia of m...	OMIM:218600
Congenital Analbuminemia	Hypoalbuminemia, Hyperlipidemia, Hypercholesterolemia, Hypoproteinemia, Increased alpha-globulin	ORPHA:86816
Lymphoproliferative Syndrome 1	Pericardial effusion, Pleural effusion	OMIM:613011
Breath-Holding Spells	Iron deficiency anemia, Pallor	OMIM:607578
Systemic Mastocytosis With Associated Hematologic Neoplasm	Chronic lymphatic leukemia, Acute myeloid leukemia, Neutrophilia, Hepatomegaly, Tachycardia, Myel...	ORPHA:98849
Fanconi Anemia, Complementation Group A	Absent thumb, Leukemia, Short thumb, Abnormal heart morphology, Absent radius, Pancytopenia, Anem...	OMIM:227650
Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease	Congenital hip dislocation, Joint contracture of the hand, Distal amyotrophy, Foot joint contract...	ORPHA:456312
Congenital Disorder Of Glycosylation, Type Ia	Cardiomyopathy, Nonimmune hydrops fetalis, Pericardial effusion, Flexion contracture, Edema, Peri...	OMIM:212065
Pallister-Hall-Like Syndrome	Hydrocephalus, Occipital encephalocele, Anterior hypopituitarism, Hypothalamic hamartoma	OMIM:241800
Nephrotic Syndrome, Type 11	Hypoalbuminemia, Hypercholesterolemia	OMIM:616730
Gaucher Disease Type 3	Aortic valve calcification, Abnormal heart valve morphology, Pulmonary arterial hypertension, Del...	ORPHA:77261
Brachial Amelia, Cleft Lip, And Holoprosencephaly	Foot oligodactyly, Anterior encephalocele, Ventricular septal defect, Holoprosencephaly, Short femur	OMIM:601357
Leber Congenital Amaurosis 14	Pallor	OMIM:613341
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib	Inflammation of the large intestine, Diarrhea, Ulcerative colitis, Xanthelasma, Hyperlipidemia, H...	ORPHA:79259
Retinitis Pigmentosa 51	Pallor, Bone spicule pigmentation of the retina, Polydactyly	OMIM:613464
Fanconi Anemia, Complementation Group C	Absent thumb, Leukemia, Short thumb, Absent radius, Intrauterine growth retardation, Pancytopenia...	OMIM:227645
Cataract 49	Posterior cortical cataract	OMIM:619593
Cold Agglutinin Disease	Hepatomegaly, Hemolytic anemia, Splenomegaly, Pallor	ORPHA:56425
Fumarase Deficiency	Intrahepatic cholestasis, Hepatic failure, Polycythemia, Pallor, Perimembranous ventricular septa...	OMIM:606812
Autosomal Dominant Cerebellar Ataxia-Deafness-Narcolepsy Syndrome	Dilated third ventricle	ORPHA:314404
Optic Atrophy 1	Pallor	OMIM:165500
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome	Premature ovarian insufficiency, Female infertility	OMIM:619518
Sepsis In Premature Infants	Hypotension, Decreased liver function, Leukocytosis, Splenomegaly, Pallor, Petechiae, Bradycardia...	ORPHA:90051
Neurodevelopmental Disorder With Language Delay And Seizures	Hypothalamic hamartoma, Ventricular septal defect	OMIM:619908
Panhypophysitis	Secondary growth hormone deficiency, Increased circulating prolactin concentration, Panhypopituit...	ORPHA:95513
Familial Focal Epilepsy With Variable Foci	Pallor	ORPHA:98820
Congenital Hyperinsulinism Due To Hnf4A Deficiency	Elevated circulating hepatic transaminase concentration, Pallor, Pancreatic islet-cell hyperplasi...	ORPHA:263455
Smith-Magenis Syndrome	Constipation, Gastroesophageal reflux, Hypercholesterolemia, Hypertriglyceridemia	ORPHA:819
Arthrogryposis, Renal Dysfunction, And Cholestasis 1	Cholestatic liver disease, Giant cell hepatitis, Elevated gamma-glutamyltransferase level, Elevat...	OMIM:208085
Iridocorneal Endothelial Syndrome	Posterior synechiae of the anterior chamber, Central heterochromia, Ectopia pupillae, Abnormal mi...	ORPHA:64734
Q Fever	Vasculitis, Abnormal heart valve morphology, Pleural effusion, Myocarditis, Abnormal left ventric...	ORPHA:781
Pallister-Hall Syndrome	Broad thumb, Toe syndactyly, Radial bowing, Polydactyly affecting the 4th finger, Overlapping toe...	ORPHA:672
Adenohypophysitis	Secondary growth hormone deficiency, Increased circulating prolactin concentration, Panhypopituit...	ORPHA:95512
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive	Cataract, Microcornea, Posterior synechiae of the anterior chamber, Persistent pupillary membrane...	OMIM:221900
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts	Cataract, Microphthalmia	OMIM:613730
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema	Cholelithiasis, Hepatitis, Increased mean corpuscular hemoglobin concentration, Pallor, Splenomeg...	OMIM:194380
Poems Syndrome	Ascites, Pleural effusion, Pulmonary arterial hypertension, Pericardial effusion, Edema	ORPHA:2905
Hereditary Leiomyomatosis And Renal Cell Cancer	Cataract	ORPHA:523
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency	Abnormal T cell count, Elevated circulating hepatic transaminase concentration, Lymphopenia, Hepa...	ORPHA:331206
Diarrhea 10, Protein-Losing Enteropathy Type	Hematochezia, Anasarca, Ascites, Pleural effusion, Polyhydramnios, Pericardial effusion	OMIM:618183
Acquired Aneurysmal Subarachnoid Hemorrhage	Nausea, Left ventricular hypertrophy, Vomiting, Hypercholesterolemia	ORPHA:90065
Rhombencephalosynapsis	Fusion of the left and right thalami, Ventriculomegaly, Hydrocephalus	ORPHA:59315
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14	Hypercholesterolemia	ORPHA:96184
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome	Finger aplasia, Short tibia, Foot oligodactyly, Fibular aplasia, Tibial bowing, Abnormality of th...	OMIM:246570
Danon Disease	Myocardial necrosis, Atrioventricular block, Dilated cardiomyopathy, Second degree atrioventricul...	OMIM:300257
Microphthalmia With Brain And Digit Anomalies	Cataract, Microcornea, Anophthalmia, Microphthalmia, Sclerocornea, Iris coloboma	ORPHA:139471
Porphyria Cutanea Tarda	Increased circulating iron concentration, Periportal fibrosis, Portal inflammation, Elevated circ...	ORPHA:101330
Medullary Thyroid Carcinoma	Diarrhea, Abnormal liver parenchyma morphology, Dysphagia	ORPHA:1332
Cardiomyopathy, Dilated, 1D	Dilated cardiomyopathy, Incomplete right bundle branch block, Congestive heart failure, Left vent...	OMIM:601494
Nance-Horan Syndrome	Cataract, Microcornea, Microphthalmia	ORPHA:627
Familial Acute Necrotizing Encephalopathy	Abnormal thalamus morphology	ORPHA:88619
Classical-Like Ehlers-Danlos Syndrome Type 2	Pericardial effusion, Mitral valve prolapse, Umbilical hernia	ORPHA:536532
Joubert Syndrome 9	Cataract, Astigmatism	OMIM:612285
Weill-Marchesani Syndrome 1	Cataract, Microspherophakia, Shallow anterior chamber, Ectopia lentis	OMIM:277600
Alg9-Cdg	Rhizomelia, Hypoplasia of the musculature, Tricuspid regurgitation, Abnormal heart morphology, Ol...	ORPHA:79328
Aicardi-Goutieres Syndrome 7	Vasculitis, Hematochezia, Hypertrophic cardiomyopathy, Intrauterine growth retardation, Oligohydr...	OMIM:615846
Progressive Epilepsy-Intellectual Disability Syndrome, Finnish Type	T2 hypointense thalamus	ORPHA:1947
Myelofibrosis	Hemophagocytosis, Extramedullary hematopoiesis, Pallor, Splenomegaly, Hepatomegaly, Myeloprolifer...	OMIM:254450
Renal Tubular Acidosis, Proximal, With Ocular Abnormalities And Impaired Intellectual Development	Cataract, Band keratopathy	OMIM:604278
9Q31.1Q31.3 Microdeletion Syndrome	Hypercholesterolemia	ORPHA:401923
Mandibuloacral Dysplasia	Increased circulating free fatty acid level, Hypercholesterolemia, Hypertriglyceridemia	ORPHA:2457
Methylmalonic Aciduria And Homocystinuria, Cblc Type	Pigmentary retinopathy, Hypotension, Decreased methylmalonyl-CoA mutase activity, Decreased methi...	OMIM:277400
Monilethrix	Cataract	ORPHA:573
Japanese Encephalitis	Skeletal muscle atrophy, Abnormal thalamus morphology, Elbow flexion contracture, Focal T2 hyperi...	ORPHA:79139
Pearson Marrow-Pancreas Syndrome	Hypoplastic anemia, Hepatic failure, Elevated circulating hepatic transaminase concentration, Ery...	OMIM:557000
New-Onset Refractory Status Epilepticus	Abnormal thalamic MRI signal intensity	ORPHA:363558
Peroxisome Biogenesis Disorder 10B	Cataract	OMIM:617370
Anemia, Sideroblastic, And Spinocerebellar Ataxia	Howell-Jolly bodies, Sideroblastic anemia, Intrauterine growth retardation, Pappenheimer bodies, ...	OMIM:301310
Autoimmune Hemolytic Anemia, Warm Type	Congestive heart failure, Pallor, Splenomegaly, Autoimmune hemolytic anemia, Chronic lymphatic le...	ORPHA:90033
Hoxha-Aliu Syndrome	Overlapping toe, Absent fifth metatarsal, Atrial septal defect, Short distal phalanx of the 5th f...	OMIM:620662
Neurodevelopmental Disorder With Dysmorphic Facies And Cerebellar Hypoplasia	Dilated fourth ventricle, Fusion of the left and right thalami, Flexion contracture, Ventricular ...	OMIM:619306
Blepharophimosis, Ptosis, And Epicanthus Inversus	Irregular menstruation, Highly arched eyebrow, Sparse pubic hair, Female infertility, Amenorrhea,...	OMIM:110100
Microphthalmia With Limb Anomalies	2-3 toe cutaneous syndactyly, Finger aplasia, Capitate-hamate fusion, Toe syndactyly, Postaxial f...	OMIM:206920
Hydranencephaly	Atrophic pituitary gland, Ventriculomegaly, Dysgenesis of the thalamus, Dilatation of the ventric...	ORPHA:2177
Kaposiform Lymphangiomatosis	Epistaxis, Pleural effusion, Pericardial effusion, Subconjunctival hemorrhage, Epidural hemorrhage	ORPHA:464329
Neuroferritinopathy	T2 hypointense thalamus, Abnormal thalamic MRI signal intensity, Hypomimic face	ORPHA:157846
Progeria-Short Stature-Pigmented Nevi Syndrome	Abnormal thalamus morphology, Multiple joint contractures	ORPHA:2959
Spontaneous Periodic Hypothermia	Arrhythmia, Pallor	ORPHA:29822
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency	Reduced HMG-CoA lyase activity in cultured fibroblasts, Elevated circulating aspartate aminotrans...	OMIM:246450
Isolated Thyroid-Stimulating Hormone Deficiency	Neonatal hyperbilirubinemia, Abnormal circulating thyroglobulin concentration, Constipation, Hype...	ORPHA:90674
Microphthalmia, Syndromic 5	Cataract, Microcornea, Anophthalmia, Microphthalmia, Optic nerve hypoplasia	OMIM:610125
Waldenström Macroglobulinemia	Normocytic anemia, Vasculitis, Gastrointestinal hemorrhage, Epistaxis, Leukemia, Congestive heart...	ORPHA:33226
Sick Sinus Syndrome 2	Aortic regurgitation, Torsade de pointes, Paroxysmal atrial fibrillation, Left ventricular noncom...	OMIM:163800
Senior-Loken Syndrome 8	Intrahepatic bile duct dilatation, Pallor, Hepatic cysts, Polydactyly, Pancreatic cysts	OMIM:616307
Non-Functioning Paraganglioma	Sinus tachycardia, Congestive heart failure, Positive regitine blocking test, Palpitations, Pallo...	ORPHA:94080
Myhre Syndrome	Aortic valve stenosis, Skeletal muscle hypertrophy, Intrauterine growth retardation, Pericardial ...	OMIM:139210
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency	Leukocytosis, Splenomegaly, Reticulocytosis, Anisocytosis, Heinz bodies, Fava bean-induced hemoly...	OMIM:300908
Drug-Induced Autoimmune Hemolytic Anemia	Congestive heart failure, Pallor, Splenomegaly, Autoimmune hemolytic anemia, Tachycardia	ORPHA:90037
Myopathy, Mitochondrial, And Ataxia	Increased variability in muscle fiber diameter, Pigmentary retinopathy, Distal amyotrophy, Pallor...	OMIM:617675
Gyrate Atrophy Of Choroid And Retina	Cataract, Subcapsular cataract	ORPHA:414
Norrie Disease	Cataract, Ectopia lentis, Hypoplasia of the iris, Abnormal pupil morphology, Corneal opacity, Apl...	ORPHA:649
Dravet Syndrome	Pallor, Tibial torsion	ORPHA:33069
Imerslund-Gräsbeck Syndrome	Anisopoikilocytosis, Hypersegmentation of neutrophil nuclei, Pancytopenia, Pallor, Reticulocytosi...	ORPHA:35858
Persistent Hyperplastic Primary Vitreous	Cataract, Microcornea, Persistent pupillary membrane, Macular hypoplasia, Leukocoria, Development...	ORPHA:91495
Galloway-Mowat Syndrome 7	Hypercholesterolemia	OMIM:618348
Weill-Marchesani Syndrome 2	Cataract, Microspherophakia, Ectopia lentis, Astigmatism, Iridodonesis, Shallow anterior chamber,...	OMIM:608328
Ifap Syndrome 2	Cataract, Keratoconjunctivitis sicca, Keratitis	OMIM:619016
Phace Syndrome	Cataract, Heterochromia iridis, Microphthalmia, Sclerocornea, Lens coloboma, Iris coloboma, Optic...	ORPHA:42775
Holoprosencephaly 7	Alobar holoprosencephaly, Semilobar holoprosencephaly, Panhypopituitarism, Fusion of the left and...	OMIM:610828
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal	Hypercholesterolemia, Hypertriglyceridemia	OMIM:610644
Von Hippel-Lindau Disease	Polycythemia, Cardiomyopathy, Upper limb muscle weakness, Palpitations, Pallor, Distal lower limb...	ORPHA:892
Ectodermal Dysplasia-Blindness Syndrome	Cataract, Microcornea, Keratoconjunctivitis sicca, Microphthalmia, Sclerocornea, Corneal dystrophy	ORPHA:1806
Hypoparathyroidism, Familial Isolated, 1	Cataract	OMIM:146200
Irida Syndrome	Abnormal intestine morphology, Intrahepatic cholestasis, Pallor	ORPHA:209981
Fructose-1,6-Bisphosphatase Deficiency	Elevated circulating hepatic transaminase concentration, Abnormal circulating enzyme concentratio...	ORPHA:348
Premature Aging Syndrome, Okamoto Type	Cataract	OMIM:601811
Leigh Syndrome	Skeletal muscle atrophy, Hypertrophic cardiomyopathy, Multiple joint contractures, Myopathy, Vent...	ORPHA:506
Mandibuloacral Dysplasia With Type A Lipodystrophy	Hepatomegaly, Hyperlipidemia, Hypercholesterolemia, Calcinosis	OMIM:248370
Lmna-Related Cardiocutaneous Progeria Syndrome	Abnormal intrahepatic bile duct morphology, Hypercholesterolemia, Hypertriglyceridemia	ORPHA:363618
Gaisböck Syndrome	Cholecystitis, Hyperuricemia, Hypercholesterolemia, Hypertriglyceridemia, Hyperproteinemia, Incre...	ORPHA:90041
Alport Syndrome 2, Autosomal Recessive	Cataract, Anterior lenticonus, Corneal erosion	OMIM:203780
Aymé-Gripp Syndrome	Postnatal growth retardation, Congenital diaphragmatic hernia, Camptodactyly, Short stature, Peri...	ORPHA:1272
Autoinflammation, Antibody Deficiency, And Immune Dysregulation	Cataract, Corneal erosion	OMIM:614878
Mitochondrial Complex Ii Deficiency, Nuclear Type 3	Dilated cardiomyopathy, Left ventricular noncompaction, Tricuspid regurgitation, Left ventricular...	OMIM:619167
Letterer-Siwe Disease	Hepatosplenomegaly, Pallor, Neutropenia, Thrombocytopenia, Anemia, Jaundice	OMIM:246400
Cornelia De Lange Syndrome	Small hand, Toe syndactyly, Short 1st metacarpal, Micromelia, Elbow dislocation, Oligodactyly, In...	ORPHA:199
Hennekam Syndrome	Chylothorax, Lymphedema, Ascites, Camptodactyly of finger, Mild postnatal growth retardation, Per...	ORPHA:2136
Hereditary Folate Malabsorption	Skeletal muscle atrophy, Pancytopenia, Pallor, Eosinophilia, Megaloblastic anemia, Thrombocytopen...	ORPHA:90045
Tay-Sachs Disease	Ventriculomegaly, Skeletal muscle atrophy, Hip flexor weakness, Lower limb muscle weakness, Quadr...	ORPHA:845
Bardet-Biedl Syndrome 20	Pancreatitis, Elevated circulating hepatic transaminase concentration, Hypercholesterolemia	OMIM:619471
Alagille Syndrome 1	Hepatic failure, Elevated circulating hepatic transaminase concentration, Cholestasis, Exocrine p...	OMIM:118450
Beta-Ketothiolase Deficiency	Hypotension, Leukocytosis, Pallor, Thrombocytosis, Hepatomegaly, Hypertension	ORPHA:134
Chromosome 16Q12 Duplication Syndrome	Cataract, Anisocoria	OMIM:619649
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome	Dilated cardiomyopathy, Congestive heart failure, Pulmonary edema, Pericardial effusion, Sudden c...	ORPHA:73224
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome	Thalamic hemorrhage, Abnormal heart morphology, Hypertrophic cardiomyopathy, Muscle hemorrhage, H...	ORPHA:464321
Neuhauser Syndrome	Hypercholesterolemia, Dysphagia	OMIM:249310
Limb-Mammary Syndrome	Toe syndactyly, Oligodactyly, Clinodactyly of the 5th finger, 3-4 finger cutaneous syndactyly, Sy...	ORPHA:69085
Keratosis Follicularis Spinulosa Decalvans, Autosomal Dominant	Conjunctivitis, Cataract, Keratitis	OMIM:612843
Megalocornea-Intellectual Disability Syndrome	Hypercholesterolemia	ORPHA:2479
Aromatase Deficiency	Female infertility, Cryptorchidism, Generalized hirsutism, Macroorchidism, postpubertal, Enlarged...	ORPHA:91
Crimean-Congo Hemorrhagic Fever	Retinal hemorrhage, Tachycardia, Diffuse alveolar hemorrhage, Bundle branch block, Ascites, Hemot...	ORPHA:99827
Microphthalmia With Limb Anomalies	Toe syndactyly, Synostosis of carpal bones, Short tibia, Postaxial foot polydactyly, Elbow disloc...	ORPHA:1106
Esophageal Atresia	Barrett esophagus, Clinodactyly, Tetralogy of Fallot, Intestinal malrotation, Esophagitis, Pallor...	ORPHA:1199
Elliptocytosis 1	Pallor, Splenomegaly, Elliptocytosis, Jaundice, Hemolytic anemia	OMIM:611804
Fuchs Heterochromic Iridocyclitis	Cataract, Corneal keratic precipitates, Iris atrophy, Heterochromia iridis, Anterior chamber infl...	ORPHA:263479
Gitelman Syndrome	Prominent U wave, Abnormal T-wave, Pericardial effusion, Palpitations, Rhabdomyolysis, ST segment...	ORPHA:358
Naxos Disease	Dilated cardiomyopathy, Palmoplantar keratoderma, Congestive heart failure, Abnormal heart morpho...	OMIM:601214
Familial Isolated Hypoparathyroidism	Cataract	ORPHA:2238
Acrofacial Dysostosis 1, Nager Type	Toe syndactyly, Clinodactyly, Overlapping toe, Ventricular septal defect, Talipes equinovarus, Ra...	OMIM:154400
Enhanced S-Cone Syndrome	Cataract	OMIM:268100
Primary Ciliary Dyskinesia	Abnormal sperm motility, Female infertility, Male infertility	ORPHA:244
Meningioma	Secondary growth hormone deficiency, Hypothalamic hypothyroidism, Upper limb muscle weakness, Inc...	ORPHA:2495
Aceruloplasminemia	Torticollis, Abnormal thalamic MRI signal intensity	ORPHA:48818
Holoprosencephaly-Caudal Dysgenesis Syndrome	Holoprosencephaly, Abnormality of the diencephalon	ORPHA:2165
Plummer-Vinson Syndrome	Pallor, Iron deficiency anemia, Esophageal web, Hypochromic microcytic anemia, Glossitis, Tongue ...	ORPHA:54028
Chédiak-Higashi Syndrome	Pericardial effusion, Epistaxis, Pleural effusion, Edema	ORPHA:167
Exudative Vitreoretinopathy 6	Cataract, Nuclear cataract, Cortical cataract	OMIM:616468
Mff-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect	Abnormal thalamic MRI signal intensity	ORPHA:485421
Congenital Total Pulmonary Venous Return Anomaly	Atrial situs ambiguous, Mitral regurgitation, Ventricular septal defect, Atrial septal defect, De...	ORPHA:99125
Mixed-Type Autoimmune Hemolytic Anemia	Tachycardia, Pallor, Autoimmune hemolytic anemia	ORPHA:90036
Tsh-Secreting Pituitary Adenoma	Hypotension, Congestive heart failure, Pericardial effusion, Palpitations, Delayed puberty, Supra...	ORPHA:91347
Infection-Related Hemolytic Uremic Syndrome	Hypertensive crisis, Leukocytosis, Pallor, Hypertension, Pancreatitis, Thrombocytopenia, Myocardi...	ORPHA:544482
Acute Bilirubin Encephalopathy	Abnormal thalamic MRI signal intensity	ORPHA:529799
Chronic Bilirubin Encephalopathy	Abnormal thalamic MRI signal intensity	ORPHA:529808
Prader-Willi Syndrome	Hypercholesterolemia, Hypertriglyceridemia, Chronic constipation, Decreased HDL cholesterol conce...	OMIM:176270
Femur, Unilateral Bifid, With Monodactylous Ectrodactyly	Bifid femur, Aplasia of the ulna, Absent tibia, Split hand, Hand monodactyly, Foot monodactyly	OMIM:228250
Anemia, Sideroblastic, 1	Sideroblastic anemia, Anemia of inadequate production, Macrocytic anemia, Anemic pallor, Hypochro...	OMIM:300751
Cardiomyopathy, Dilated, 1S	Dilated cardiomyopathy, Ebstein anomaly of the tricuspid valve, Congestive heart failure, Tricusp...	OMIM:613426
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome	Cataract, Microcornea, Ectopia pupillae, Anophthalmia, Microphthalmia, Sclerocornea	OMIM:615877
Alternating Hemiplegia Of Childhood	Cardiomyopathy, Abnormal T-wave, Pallor, Cardiac conduction abnormality, Arrhythmia, Facial hypot...	ORPHA:2131
Traboulsi Syndrome	Cataract, Ectopia lentis, Phakodonesis, Microphthalmia, Iris atrophy, Spherophakia, Anterior syne...	OMIM:601552
Congenital Disorder Of Deglycosylation 2	Macroglossia, Partial agenesis of the corpus callosum, Hypothalamic hamartoma, Ventriculomegaly	OMIM:619775
Xeroderma Pigmentosum, Complementation Group D	Cataract, Keratitis, Corneal neovascularization, Keratoconjunctivitis sicca, Microphthalmia, Conj...	OMIM:278730
Generalized Arterial Calcification Of Infancy	Ventricular hypertrophy, Ascites, Transient ischemic attack, Left ventricular systolic dysfunctio...	ORPHA:51608
Lymphangioleiomyomatosis	Gastrointestinal hemorrhage, Chylothorax, Lymphedema, Ascites, Chylopericardium	ORPHA:538
Acute Disseminated Encephalomyelitis	Abnormal thalamic MRI signal intensity	ORPHA:83597
Liver Disease, Severe Congenital	Portal inflammation, Dilatation of the ventricular cavity, Hepatic steatosis, Ventricular septal ...	OMIM:619991
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus	Highly arched eyebrow, Elevated circulating luteinizing hormone level, Female infertility, Lacrim...	ORPHA:572333
Diaphanospondylodysostosis	Intrauterine growth retardation, Talipes equinovarus, Disproportionate short-trunk short stature,...	OMIM:608022
Refractory Anemia With Excess Blasts	Abnormal mean corpuscular volume, Palpitations, Leukocytosis, Anemia of inadequate production, An...	ORPHA:86839
Amyloidosis, Finnish Type	Cataract, Lattice corneal dystrophy	OMIM:105120
Phocomelia, Schinzel Type	Finger aplasia, Radial bowing, Micromelia, Aplasia/Hypoplasia involving the pelvis, Abnormal tibi...	ORPHA:2879
Long Qt Syndrome 15	Ventricular bigeminy, Left ventricular noncompaction, 2:1 atrioventricular block, Sinus bradycard...	OMIM:616249
Sporadic Pheochromocytoma/Secreting Paraganglioma	Sinus tachycardia, Congestive heart failure, Positive regitine blocking test, Palpitations, Pallo...	ORPHA:276621
Aregenerative Anemia	Pancytopenia, Decreased proportion of CD4-positive helper T cells, Pallor, Abnormal proportion of...	ORPHA:101096
Neuroocular Syndrome 1	Cataract, Microcornea, Stellate iris, Peters anomaly, Hypoplasia of the fovea, Blue irides, Micro...	OMIM:619539
Kcnq2-Related Epileptic Encephalopathy	Facial erythema, Pallor	ORPHA:439218
Biliary, Renal, Neurologic, And Skeletal Syndrome	Cholestasis, Hyperbilirubinemia, Congenital hepatic fibrosis, Cirrhosis, Elevated circulating ala...	OMIM:619534
Oculocerebral Hypopigmentation Syndrome, Preus Type	Hydrocephalus, Abnormality of the diencephalon	ORPHA:2720
6-Pyruvoyl-Tetrahydropterin Synthase Deficiency	Pallor	ORPHA:13
Bickerstaff Brainstem Encephalitis	Facial paralysis, Limb muscle weakness, Weakness of facial musculature, Facial palsy, Abnormal th...	ORPHA:79138
Incontinentia Pigmenti	Erythema, Delayed eruption of teeth, Leukocytosis, Pallor, Retinal hemorrhage, Eosinophilia, Abno...	OMIM:308300
Marfan Syndrome	Cataract, Microspherophakia, Ectopia lentis, Hypoplasia of the iris, Astigmatism	OMIM:154700
Orofaciodigital Syndrome Vi	Hypoplastic left heart, Hypothalamic hamartoma, Occipital meningocele, Agenesis of corpus callosum	OMIM:277170
Retinitis Pigmentosa 75	Pallor, Bone spicule pigmentation of the retina	OMIM:617023
Hereditary Cryohydrocytosis With Reduced Stomatin	Communicating hydrocephalus, Decreased thalamic volume	ORPHA:168577
Cone-Rod Dystrophy 8	Pallor, Abnormality of retinal pigmentation	OMIM:605549
Multiple Endocrine Neoplasia Type 2	Hypertensive crisis, Abnormal tongue morphology, Ganglioneuromatosis, Palpitations, Pallor, Hyper...	ORPHA:653
Non-Functioning Pituitary Adenoma	Hypotension, Pallor, Anemia of inadequate production	ORPHA:91349
Sarcoidosis, Susceptibility To, 1	Pericardial effusion, Pulmonary arterial hypertension, Pleural effusion	OMIM:181000
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome	Ectrodactyly, Camptodactyly of finger, Oligodactyly, Abnormality of the hand, Abnormal pelvis bon...	ORPHA:2273
Sheehan Syndrome	Dry skin, Palpitations, Pallor, Orthostatic hypotension, Bradycardia, Normochromic anemia	ORPHA:91355
Lipodystrophy, Familial Partial, Type 7	Diarrhea, Vomiting, Recurrent pancreatitis, Hypercholesterolemia, Hypertriglyceridemia, Dysphagia	OMIM:606721
Pierson Syndrome	Cataract, Hypoplasia of the iris, Rieger anomaly, Uveal ectropion, Hypoplasia of the ciliary body...	OMIM:609049
Pituitary Apoplexy	Hypertension, Hypotension, Pallor, Normochromic anemia	ORPHA:95613
Hereditary Pheochromocytoma-Paraganglioma	Sinus tachycardia, Congestive heart failure, Positive regitine blocking test, Palpitations, Pallo...	ORPHA:29072
Sponastrime Dysplasia	Cataract, Microcoria, Congenital aphakia	ORPHA:93357
Generalized Juvenile Polyposis/Juvenile Polyposis Coli	Hematochezia, Duodenal polyposis, Multiple gastric polyps, Anemic pallor, Small intestinal polypo...	ORPHA:329971
Orofaciodigital Syndrome I	Myelomeningocele, Abnormal heart morphology, Agenesis of corpus callosum, Hypothalamic hamartoma,...	OMIM:311200
Ulna And Fibula, Absence Of, With Severe Limb Deficiency	Radial bowing, Aplasia/Hypoplasia of the pubic bone, Fibular aplasia, Humeroradial synostosis, El...	OMIM:276820
Neuroblastoma	Increased circulating lactate dehydrogenase concentration, Anemic pallor, Thrombocytopenia, Anemi...	ORPHA:635
Oculocerebrorenal Syndrome Of Lowe	Gastroesophageal reflux, Hyperaldosteronism, Hyponatremia, Hypokalemia, Hypophosphatemia, Hyperch...	ORPHA:534
Steinert Myotonic Dystrophy	Cholelithiasis, Diarrhea, Elevated circulating hepatic transaminase concentration, Oral-pharyngea...	ORPHA:273
Prolactinoma	Hypotension, Delayed puberty, Pallor	ORPHA:2965
Tay-Sachs Disease	Pallor	OMIM:272800
Homozygous Familial Hypercholesterolemia	Hyperlipidemia, Increased LDL cholesterol concentration, Hypercholesterolemia, Hepatic steatosis	ORPHA:391665
Microphthalmia, Syndromic 3	Hypothalamic hamartoma, Ventricular septal defect, Anterior pituitary hypoplasia, Agenesis of cor...	OMIM:206900
Orofaciodigital Syndrome Type 6	Abnormal heart morphology, Hypothalamic hamartoma	ORPHA:2754
Childhood Absence Epilepsy	Pallor	ORPHA:64280
Autosomal Dominant Optic Atrophy And Cataract	Cataract, Posterior subcapsular cataract, Cerulean cataract, Anterior cortical cataract, Posterio...	ORPHA:67036
Lowe Oculocerebrorenal Syndrome	Elevated amniotic fluid alpha-fetoprotein, Elevated circulating creatine kinase concentration, Co...	OMIM:309000
Yunis-Varon Syndrome	Hypoplastic scapulae, Toe syndactyly, Clinodactyly, Bilateral single transverse palmar creases, V...	OMIM:216340
Sarcoidosis	Hepatic failure, Hypopigmentation of the skin, Decreased liver function, Parotitis, Leukopenia, P...	ORPHA:797
Turner Syndrome Due To Structural X Chromosome Anomalies	Alopecia, Female infertility, Abnormality of the ovary, Low posterior hairline, Primary amenorrhe...	ORPHA:99413
Mosaic Monosomy X	Alopecia, Female infertility, Abnormality of the ovary, Low posterior hairline, Primary amenorrhe...	ORPHA:99228
Monosomy X	Alopecia, Female infertility, Abnormality of the ovary, Low posterior hairline, Primary amenorrhe...	ORPHA:99226
Turner Syndrome	Alopecia, Female infertility, Abnormality of the ovary, Low posterior hairline, Primary amenorrhe...	ORPHA:881
Focal Dermal Hypoplasia	Toe syndactyly, Foot polydactyly, Short metacarpal, Myelomeningocele, Brachydactyly, Postaxial ha...	OMIM:305600
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3	Muscular dystrophy, Pallor, Hydrocephalus	OMIM:253280
Williams Syndrome	Macroglossia, Umbilical hernia, Hypertrophic cardiomyopathy, Tetralogy of Fallot, Myopathy, Ventr...	ORPHA:904
Pmm2-Cdg	Anasarca, Lymphedema, Hypertrophic cardiomyopathy, Multiple joint contractures, Angina pectoris, ...	ORPHA:79318
Goodpasture Syndrome	Anemia, Pulmonary hemorrhage, Pallor	OMIM:233450

Histopathology

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

There is no histopathology data for Ncoa6

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Ncoa6.

No publications found that use IMPC mice or data for Ncoa6.

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MGI Allele	Allele Type	Produced
Ncoa6^tm1(KOMP)Mbp	Reporter-tagged deletion allele (with selection cassette)	Targeting vectors, ES Cells
Ncoa6^em1(IMPC)J	Indel	Mice

Sequence

Guides

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

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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Gene: Ncoa6 MGI:1929915

Gene Summary

IMPC Data Collections

IMPC Phenotype Summary

Phenotypes

lacZ Expression

Associated Images

Eye Morphology

X-ray

X-ray

X-ray

X-ray

X-ray

Electroretinography 2

Human diseases caused by Ncoa6 mutations

Histopathology

IMPC related publications

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Access Data Release 21.1 Data