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Gene: Cyp4v3 MGI:2142763

Gene Summary

Name:

cytochrome P450, family 4, subfamily v, polypeptide 3

Synonyms:

N/A

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	Cyp4v3^em1(IMPC)Mbp	HOM	Early adult	0.00
abnormal liver morphology	Cyp4v3^em1(IMPC)Mbp	HOM	Early adult	0.00
hyperactivity	Cyp4v3^em1(IMPC)Mbp	HOM	Early adult	4.60×10^-08
abnormal eye morphology	Cyp4v3^em1(IMPC)Mbp	HOM	Early adult	0.00
abnormal liver morphology	Cyp4v3^em1(IMPC)Mbp	HOM	Late adult	0.00
enlarged liver	Cyp4v3^em1(IMPC)Mbp	HOM	Late adult	0.00

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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.

X-ray

XRay Images Whole Body Dorso Ventral

42 Images

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X-ray

XRay Images Whole Body Lateral Orientation

14 Images

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X-ray

XRay Images Whole Body Dorso Ventral

12 Images

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X-ray

XRay Images Whole Body Lateral Orientation

4 Images

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Human diseases caused by Cyp4v3 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 Cyp4v3 (2 diseases)
Human diseases predicted to be associated with Cyp4v3 (669 diseases)

The table below shows human diseases associated to Cyp4v3 by orthology or direct annotation.

Disease	Similarity of phenotypes	Matching phenotypes	Source
Bietti Crystalline Dystrophy		Retinal thinning, Chorioretinal degeneration, Cystoid macular edema, Subretinal deposits, Chorioc...	ORPHA:41751
Bietti Crystalline Corneoretinal Dystrophy		Chorioretinal atrophy, Retinal degeneration	OMIM:210370

The table below shows human diseases predicted to be associated to Cyp4v3 by phenotypic similarity.

Disease	Matching phenotypes	Source
Congenital Disorder Of Glycosylation, Type Icc	Hepatomegaly	OMIM:301031
Glycine N-Methyltransferase Deficiency	Hepatomegaly, Elevated circulating hepatic transaminase concentration	OMIM:606664
Retinal Dysplasia, Primary	Falciform retinal fold, Retinal dysplasia	OMIM:312550
Choroidal Dystrophy, Central Areolar, 1	Chorioretinal atrophy, Choriocapillaris atrophy, Pigmentary retinopathy	OMIM:215500
Attention Deficit-Hyperactivity Disorder	Hyperactivity, Attention deficit hyperactivity disorder	OMIM:143465
Retinitis Pigmentosa 36	Bone spicule pigmentation of the retina, Macular degeneration, Attenuation of retinal blood vesse...	OMIM:610599
X-Linked Retinal Dysplasia	Abnormal retinal vascular morphology, Abnormality of retinal pigmentation, Retinal dysplasia	ORPHA:1852
Night Blindness, Congenital Stationary, Type 1D	Congenital stationary night blindness, Attenuation of retinal blood vessels, Macular atrophy, Pig...	OMIM:613830
Leber Congenital Amaurosis 13	Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Optic disc pallor,...	OMIM:612712
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome	Hepatomegaly, Splenomegaly	ORPHA:2274
Grouped Pigmentation Of The Retina	Abnormality of retinal pigmentation	OMIM:233800
Cleft Lip-Retinopathy Syndrome	Retinopathy, Abnormality of retinal pigmentation	ORPHA:1995
Retinitis Pigmentosa 39	Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Rod-cone dystrophy	OMIM:613809
Cholestasis, Progressive Familial Intrahepatic, 11	Hepatomegaly, Elevated circulating alanine aminotransferase concentration, Elevated circulating a...	OMIM:619874
Macular Dystrophy, Retinal, 2	Granular macular appearance, Macular dystrophy, Perifoveal ring of hyperautofluorescence, Retinal...	OMIM:608051
Persistent Placoid Maculopathy	Hypoplasia of the fovea, Abnormal macular morphology, Retinal pigment epithelial mottling, Choroi...	ORPHA:97341
Central Areolar Choroidal Dystrophy	Full-thickness macular hole, Drusen, Foveal photoreceptor outer segment loss on macular OCT, Abse...	ORPHA:75377
Sorsby Pseudoinflammatory Fundus Dystrophy	Macular dystrophy, Abnormal fundus autofluorescence imaging, Choroidal neovascularization, Chorio...	ORPHA:59181
Schizophrenia 15	Hyperactivity	OMIM:613950
Galactosemia Iv	Prolonged neonatal jaundice, Hepatomegaly	OMIM:618881
Polycystic Liver Disease 2 With Or Without Kidney Cysts	Hepatic cysts, Hepatomegaly	OMIM:617004
Bardet-Biedl Syndrome 13	Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Rod-cone dystrophy	OMIM:615990
Night Blindness, Congenital Stationary, Autosomal Dominant 1	Congenital stationary night blindness, Bone spicule pigmentation of the retina	OMIM:610445
Choroideremia	Granular macular appearance, Bone spicule pigmentation of the retina, Chorioretinal degeneration,...	OMIM:303100
Liberfarb Syndrome	Retinal degeneration, Bone spicule pigmentation of the retina, Retinal pigment epithelial mottlin...	OMIM:618889
Ataxia-Tapetoretinal Degeneration Syndrome	Rod-cone dystrophy, Pigmentary retinopathy	ORPHA:1178
Nanophthalmos	Abnormality of retinal pigmentation, Abnormal choroid morphology	ORPHA:35612
Stargardt Disease 1	Macular degeneration, Retinitis pigmentosa inversa, Bull's eye maculopathy	OMIM:248200
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10	Retinal dysplasia	OMIM:615041
Alpha-N-Acetylgalactosaminidase Deficiency Type 3	Hepatomegaly	ORPHA:79281
Cerebellar Hypoplasia-Tapetoretinal Degeneration Syndrome	Optic atrophy, Abnormality of retinal pigmentation	ORPHA:2246
Retinopathy, Pericentral Pigmentary, Dominant	Bone spicule pigmentation of the retina, Retinal dystrophy, Retinal atrophy, Retinopathy, Attenua...	OMIM:180210
Homocarnosinosis	Abnormality of skin pigmentation, Abnormality of retinal pigmentation	OMIM:236130
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome	Optic atrophy, Abnormality of retinal pigmentation	ORPHA:1574
Muscular Atrophy-Ataxia-Retinitis Pigmentosa-Diabetes Mellitus Syndrome	Abnormality of retinal pigmentation	ORPHA:2579
Ceroid Lipofuscinosis, Neuronal, 7	Optic atrophy, Cerebral atrophy, Cerebellar atrophy, Retinopathy, Neurodegeneration, Pigmentary r...	OMIM:610951
Familial Drusen	Granular macular appearance, Macular dystrophy, Peripapillary chorioretinal atrophy, Choroidal ne...	ORPHA:75376
Nephronophthisis	Abnormality of retinal pigmentation	ORPHA:655
22q13 deletion syndrome (Phelan-Mcdermid syndrome)	Hyperactivity	DECIPHER:20
Retinitis Pigmentosa 47	Chorioretinal atrophy, Rod-cone dystrophy, Pigmentary retinopathy	OMIM:613758
Progressive Cone Dystrophy	Abnormality of retinal pigmentation	ORPHA:1871
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency	Pigmentary retinopathy	OMIM:609016
Cone-Rod Dystrophy 5	Cone/cone-rod dystrophy, Macular degeneration, Retinal pigment epithelial mottling	OMIM:600977
Neuropathy, Ataxia, And Retinitis Pigmentosa	Retinopathy, Rod-cone dystrophy, Retinal pigment epithelial mottling, Corticospinal tract atrophy	OMIM:551500
Retinitis Pigmentosa 30	Optic atrophy, Bone spicule pigmentation of the retina, Chorioretinal atrophy, Attenuation of ret...	OMIM:607921
Retinitis Pigmentosa 32	Bone spicule pigmentation of the retina, Photoreceptor layer loss on macular OCT, Pigmentary reti...	OMIM:609913
Blue Cone Monochromatism	Abnormality of retinal pigmentation	ORPHA:16
Retinitis Pigmentosa 57	Bone spicule pigmentation of the retina, Cystoid macular edema, Attenuation of retinal blood vess...	OMIM:613582
Retinitis Pigmentosa 33	Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels, Retinal pigment ep...	OMIM:610359
Spinocerebellar Ataxia, Autosomal Recessive 29	Cerebellar vermis atrophy, Cerebellar atrophy, Corpus callosum atrophy, Retinal pigment epithelia...	OMIM:619389
Multiple Mitochondrial Dysfunctions Syndrome 5	Elevated circulating creatine kinase concentration, Pigmentary retinopathy	OMIM:617613
Bothnia Retinal Dystrophy	Increased OCT-measured foveal thickness, Macular degeneration, Pigmentary retinopathy, Abnormal f...	ORPHA:85128
Retinitis Pigmentosa 54	Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Rod-cone dystrophy...	OMIM:613428
Potocki-Lupski syndrome (17p11.2 duplication syndrome)	Hyperactivity	DECIPHER:19
Leber Congenital Amaurosis With Early-Onset Deafness	Retinal degeneration, Retinal pigment epithelial mottling, Peripapillary atrophy	OMIM:617879
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1	Cerebral atrophy, Retinal dystrophy, Retinal detachment, Abnormality of skin pigmentation, Abnorm...	OMIM:251270
Progressive Bifocal Chorioretinal Atrophy	Macular atrophy, Pigmentary retinopathy, Chorioretinal dystrophy	ORPHA:75373
Retinitis Pigmentosa 61	Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Rod-cone dystrophy	OMIM:614180
Retinitis Pigmentosa 4	Bone spicule pigmentation of the retina, Retinal atrophy, Attenuation of retinal blood vessels, R...	OMIM:613731
Intellectual Developmental Disorder, Autosomal Recessive 3	Hyperactivity	OMIM:608443
Retinitis Pigmentosa 40	Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Rod-cone dystrophy	OMIM:613801
Retinitis Pigmentosa 62	Bone spicule pigmentation of the retina, Bull's eye maculopathy, Attenuation of retinal blood ves...	OMIM:614181
Developmental Delay, Impaired Growth, Dysmorphic Facies, And Axonal Neuropathy	Cerebral atrophy, Cerebellar atrophy, Pigmentary retinopathy	OMIM:619090
Retinitis Pigmentosa 81	Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Optic disc pallor,...	OMIM:617871
Retinitis Pigmentosa 11	Bone spicule pigmentation of the retina, Macular degeneration, Perifoveal ring of hyperautofluore...	OMIM:600138
Nystagmus 6, Congenital, X-Linked	Hypopigmentation of the fundus, Retinal pigment epithelial mottling	OMIM:300814
Retinitis Pigmentosa 7	Chorioretinal atrophy, Attenuation of retinal blood vessels, Rod-cone dystrophy, Pigmentary retin...	OMIM:608133
Cone-Rod Dystrophy 24	Macular degeneration, Macular drusen, Cone/cone-rod dystrophy, Attenuation of retinal blood vesse...	OMIM:620342
Retinitis Pigmentosa 27	Bone spicule pigmentation of the retina, Peripapillary chorioretinal atrophy, Chorioretinal atrop...	OMIM:613750
Exudative Vitreoretinopathy 7	Retinal detachment, Exudative vitreoretinopathy, Retinal degeneration, Retinal hole, Retinal fold	OMIM:617572
Retinitis Pigmentosa 76	Retinal thinning, Bone spicule pigmentation of the retina, Hyperautofluorescent macular lesion, C...	OMIM:617123
Retinitis Pigmentosa 96	Retinal thinning, Bone spicule pigmentation of the retina, Rod-cone dystrophy	OMIM:620228
Retinitis Pigmentosa 95	Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Perifoveal ring of...	OMIM:620102
Autosomal Recessive Complex Spastic Paraplegia Due To Kennedy Pathway Dysfunction	Central retinal vessel vascular tortuosity, Retinal pigment epithelial mottling, Hyporeflective s...	ORPHA:506353
Tyrosinemia Type 1	Splenomegaly, Hepatomegaly, Acute hepatic failure, Hepatocellular carcinoma	ORPHA:882
Achromatopsia	Inner retinal layer loss on macular OCT, Attenuation of retinal blood vessels, Hypoplasia of the ...	ORPHA:49382
Retinitis Pigmentosa 68	Rod-cone dystrophy, Bone spicule pigmentation of the retina, Retinal atrophy	OMIM:615725
Cone-Rod Dystrophy 16	Bone spicule pigmentation of the retina, Cone/cone-rod dystrophy, Attenuation of retinal blood ve...	OMIM:614500
Cone Rod Dystrophy	Abnormality of retinal pigmentation	ORPHA:1872
Leber Congenital Amaurosis 19	Retinal degeneration, Attenuation of retinal blood vessels, Optic disc pallor	OMIM:618513
Retinitis Pigmentosa 90	Bone spicule pigmentation of the retina, Cystoid macular edema, Attenuation of retinal blood vess...	OMIM:619007
Retinitis Pigmentosa 9	Macular edema, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Macular atrophy	OMIM:180104
Intellectual Developmental Disorder, Autosomal Recessive 37	Hyperactivity, Bruxism, Aggressive behavior	OMIM:615493
Choroideremia	Abnormality of retinal pigmentation	ORPHA:180
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome	Hyperactivity, Bruxism, Aggressive behavior	ORPHA:356996
Retinitis Pigmentosa 69	Perifoveal hypoautofluorescence, Rod-cone dystrophy, Pigmentary retinopathy	OMIM:615780
Portal Hypertension, Noncirrhotic, 1	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Splenomegaly, Portal hyper...	OMIM:617068
Bietti Crystalline Dystrophy	Retinal thinning, Chorioretinal degeneration, Cystoid macular edema, Subretinal deposits, Chorioc...	ORPHA:41751
Retinitis Pigmentosa 80	Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Macular atrophy	OMIM:617781
Retinal Degeneration And Epilepsy	Retinal degeneration	OMIM:267740
Retinoschisis 1, X-Linked, Juvenile	Retinal detachment, Retinal atrophy, Retinoschisis, Peripheral cystoid retinal degeneration, Reti...	OMIM:312700
Late-Onset Retinal Degeneration	Sub-RPE deposits, Choroidal neovascularization, Chorioretinal degeneration, Retinopathy, Retinal ...	OMIM:605670
Retinitis Pigmentosa 17	Bone spicule pigmentation of the retina, Rod-cone dystrophy	OMIM:600852
Cone-Rod Dystrophy, X-Linked, 1	Hypoautofluorescent macular lesion, Retinal pigment epithelial mottling, Retinal pigment epitheli...	OMIM:304020
Exudative Vitreoretinopathy 3	Retinal exudate, Retinal detachment, Exudative vitreoretinopathy, Retinal hole, Retinal fold	OMIM:605750
Pigmented Paravenous Chorioretinal Atrophy	Paravenous chorioretinal atrophy, Vitreoretinopathy, Bone spicule pigmentation of the retina	OMIM:172870
Congenital Stationary Night Blindness	Congenital stationary night blindness with abnormal fundus, Retinal thinning, Abnormality of reti...	ORPHA:215
Retinitis Pigmentosa 19	Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels, Retinal pigment ep...	OMIM:601718
Stargardt Disease	Retinal thinning, Abnormality of macular pigmentation, Macular degeneration, Yellow/white lesions...	ORPHA:827
Retinal Cone Dystrophy 4	Cone/cone-rod dystrophy, Retinal pigment epithelial mottling	OMIM:610478
Oliver-Mcfarlane Syndrome	Central heterochromia, Retinal degeneration, Pigmentary retinopathy	OMIM:275400
Usher Syndrome, Type Iv	Retinal degeneration, Bone spicule pigmentation of the retina, Retinal atrophy, Hyperautofluoresc...	OMIM:618144
Retinitis Pigmentosa 28	Bone spicule pigmentation of the retina, Rod-cone dystrophy, Optic disc pallor	OMIM:606068
Microphthalmia, Isolated 5	Bone spicule pigmentation of the retina, Foveoschisis, Cystoid macular edema, Optic disc drusen, ...	OMIM:611040
Retinitis Pigmentosa 73	Bone spicule pigmentation of the retina, Geographic atrophy, Retinal atrophy, Macular crystals, E...	OMIM:616544
Microcephaly-Cardiomyopathy Syndrome	Abnormality of retinal pigmentation	ORPHA:2515
Retinal Cone Dystrophy 1	Cone/cone-rod dystrophy, Retinal degeneration, Bull's eye maculopathy	OMIM:180020
Retinitis Pigmentosa 88	Bone spicule pigmentation of the retina, Macular degeneration, Cystoid macular edema, Attenuation...	OMIM:618826
Proteasome-Associated Autoinflammatory Syndrome 5	Hepatomegaly, Splenomegaly	OMIM:619175
Leber Congenital Amaurosis 2	Optic disc pallor, Fundus atrophy, Attenuation of retinal blood vessels, Absent foveal reflex, Pi...	OMIM:204100
Retinitis Pigmentosa 84	Macular coloboma, Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels, ...	OMIM:618220
Retinitis Pigmentosa 6	Rod-cone dystrophy, Pigmentary retinopathy, Chorioretinal degeneration	OMIM:312612
Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome	Retinal degeneration, Neonatal hyperbilirubinemia, Pigmentary retinopathy	ORPHA:3363
Central Retinal Vein Occlusion	Retinal neovascularization, Macular degeneration, Cystoid macular edema, Intraretinal hemorrhage,...	ORPHA:411527
Ophthalmoplegia-Intellectual Disability-Lingua Scrotalis Syndrome	Abnormality of retinal pigmentation, Facial palsy	ORPHA:2743
Alpha-Methylacyl-Coa Racemase Deficiency	Increased circulating very long-chain fatty acid concentration, Elevated circulating phytanic aci...	OMIM:614307
Retinopathy, Pericentral Pigmentary, Autosomal Recessive	Pigmentary retinopathy	OMIM:268060
Retinal Dystrophy, Juvenile Cataracts, And Short Stature Syndrome	Bone spicule pigmentation of the retina, Retinal dystrophy, Attenuation of retinal blood vessels,...	OMIM:616108
Persistent Polyclonal B-Cell Lymphocytosis	Hepatomegaly, Splenomegaly	OMIM:606445
Hemoglobin H Disease	Hepatomegaly, Splenomegaly	OMIM:613978
Retinitis Pigmentosa 13	Bone spicule pigmentation of the retina, Asteroid hyalosis, Cystoid macular edema, Optic disc dru...	OMIM:600059
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome	Hepatomegaly, Splenomegaly	ORPHA:46532
Newfoundland Rod-Cone Dystrophy	Bone spicule pigmentation of the retina, Retinal dystrophy	OMIM:607476
Leber Congenital Amaurosis 1	Optic disc drusen, Fundus atrophy, Attenuation of retinal blood vessels, Hyperthreoninemia, Pigme...	OMIM:204000
Smith-Magenis syndrome	Hyperactivity, Self-mutilation, Motor stereotypy	DECIPHER:8
Retinitis Pigmentosa 79	Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Macular atrophy, O...	OMIM:617460
Hypertriglyceridemia, Transient Infantile	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Splenomegaly, Hepatic fibr...	OMIM:614480
Leber Congenital Amaurosis 8	Macular coloboma, Chorioretinal atrophy, Nummular pigmentation of the fundus, Choriocapillaris at...	OMIM:613835
Retinitis Pigmentosa 1	Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Rod-cone dystrophy...	OMIM:180100
Birdshot Chorioretinopathy	Abnormal chorioretinal morphology, Retinal thinning, Choroidal neovascularization, Vitritis, Cyst...	ORPHA:179
Chorioretinal Atrophy, Progressive Bifocal	Retinal detachment, Chorioretinal atrophy, Chorioretinal dystrophy	OMIM:600790
Leber Congenital Amaurosis 9	Optic atrophy, Macular coloboma, Macular hypopigmentation, Bone spicule pigmentation of the retin...	OMIM:608553
Eem Syndrome	Retinopathy, Macular dystrophy, Abnormality of retinal pigmentation	ORPHA:1897
Kearns-Sayre Syndrome	Abnormality of retinal pigmentation	ORPHA:480
Bornholm Eye Disease	Optic nerve hypoplasia, Abnormality of retinal pigmentation	OMIM:300843
Aplasia Cutis-Myopia Syndrome	Abnormality of retinal pigmentation	ORPHA:1117
Retinitis Pigmentosa 92	Pigmentary retinopathy	OMIM:619614
Glutathione Synthetase Deficiency	Pigmentary retinopathy	OMIM:266130
Spinocerebellar Ataxia 7	Optic atrophy, Macular degeneration, Pigmentary retinopathy	OMIM:164500
Intellectual Developmental Disorder, X-Linked 109	Agitation, Hyperactivity, Recurrent hand flapping, Compulsive behaviors, Impulsivity, Stereotypic...	OMIM:309548
Senior-Loken Syndrome	Abnormality of retinal pigmentation, Retinal dystrophy	ORPHA:3156
Cofs Syndrome	Optic atrophy, Abnormality of retinal pigmentation, Cerebral cortical atrophy	ORPHA:1466
Hypotaurinemic Retinal Degeneration And Cardiomyopathy	Retinal thinning, Photoreceptor layer loss on macular OCT, Attenuation of retinal blood vessels, ...	OMIM:145350
Microcephaly-Thin Corpus Callosum-Intellectual Disability Syndrome	Cerebral atrophy, Abnormality of retinal pigmentation	ORPHA:397951
Diabetes And Deafness, Maternally Inherited	Retinal degeneration, Pigmentary retinopathy	OMIM:520000
Fraxe Intellectual Disability	Agitation, Hyperactivity, Recurrent hand flapping, Compulsive behaviors, Impulsivity, Stereotypic...	ORPHA:100973
Intellectual Developmental Disorder, X-Linked 72	Hyperactivity, Motor stereotypy	OMIM:300271
Glycosylphosphatidylinositol Biosynthesis Defect 1	Portal vein thrombosis, Hepatomegaly, Splenomegaly, Portal hypertension	OMIM:610293
Retinitis Pigmentosa 87 With Choroidal Involvement	Nummular pigmentation of the fundus, Chorioretinal atrophy, Bone spicule pigmentation of the reti...	OMIM:618697
Ring Chromosome 14 Syndrome	Pigmentary retinopathy	OMIM:616606
Mitochondrial Complex Iii Deficiency, Nuclear Type 3	Hepatomegaly, Elevated circulating alanine aminotransferase concentration, Elevated circulating a...	OMIM:615158
Retinitis Pigmentosa 12	Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Rod-cone dystrophy...	OMIM:600105
Morning Glory Disc Anomaly	Retinal detachment, Abnormality of retinal pigmentation, Optic disc coloboma	ORPHA:35737
Retinitis Pigmentosa 2	Chorioretinal degeneration, Fundus atrophy, Bull's eye maculopathy, Rod-cone dystrophy, Pigmentar...	OMIM:312600
Hemolytic Disease Of Fetus And Newborn, Rh-Induced	Fetal ascites, Hepatomegaly, Splenomegaly	OMIM:619462
Leber Congenital Amaurosis	Abnormality of retinal pigmentation, Abnormal optic disc morphology	ORPHA:65
Primary Hypomagnesemia With Hypercalciuria And Nephrocalcinosis With Severe Ocular Involvement	Macular coloboma, Abnormality of retinal pigmentation, Chorioretinal coloboma	ORPHA:2196
Retinitis Pigmentosa 50	Retinal detachment, Attenuation of retinal blood vessels, Retinal flecks, Rod-cone dystrophy, Opt...	OMIM:613194
Narp Syndrome	Corticospinal tract atrophy, Cerebral cortical atrophy, Retinal pigment epithelial mottling, Rod-...	ORPHA:644
Sjögren-Larsson Syndrome	Retinopathy, Macular degeneration, Abnormality of retinal pigmentation, Generalized hyperpigmenta...	ORPHA:816
Diprosopus	Abnormality of retinal pigmentation	ORPHA:1681
Osteoporosis-Pseudoglioma Syndrome	Abnormal vitreous humor morphology, Retinal detachment, Exudative retinopathy, Blue sclerae, Exud...	ORPHA:2788
Cone-Rod Dystrophy 3	Pigmentary retinopathy, Bull's eye maculopathy, Cone/cone-rod dystrophy, Attenuation of retinal b...	OMIM:604116
Cholestasis, Progressive Familial Intrahepatic, 9	Jaundice, Intrahepatic cholestasis, Hepatomegaly, Fibro-obliterative bile-duct lesion, Portal hyp...	OMIM:619849
Peroxisomal Acyl-Coa Oxidase Deficiency	Optic atrophy, Rod-cone dystrophy, Pigmentary retinopathy	OMIM:264470
Systemic Primary Carnitine Deficiency	Hepatomegaly, Elevated circulating hepatic transaminase concentration	ORPHA:158
Night Blindness-Skeletal Anomalies-Dysmorphism Syndrome	Abnormality of retinal pigmentation, Heterochromia iridis, Abnormal retinal vascular morphology	ORPHA:1390
Cataract 50 With Or Without Glaucoma	Retinal detachment, Persistent pupillary membrane	OMIM:620253
Retinitis Pigmentosa 41	Bone spicule pigmentation of the retina, Macular degeneration, Pigmentary retinopathy, Attenuatio...	OMIM:612095
Retinitis Pigmentosa 70	Macular degeneration, Attenuation of retinal blood vessels, Retinal degeneration, Rod-cone dystro...	OMIM:615922
Retinitis Pigmentosa 46	Attenuation of retinal blood vessels, Rod-cone dystrophy, Optic disc pallor, Pigmentary retinopathy	OMIM:612572
Cone-Rod Dystrophy 20	Cone/cone-rod dystrophy, Bone spicule pigmentation of the retina, Optic disc pallor	OMIM:615973
Nephronophthisis 19	Hepatomegaly, Cholestasis, Bile duct proliferation, Splenomegaly, Hepatic fibrosis, Malformation ...	OMIM:616217
Bilateral Striopallidodentate Calcinosis	Abnormality of the liver, Hepatomegaly	ORPHA:1980
Retinitis Pigmentosa 86	Bone spicule pigmentation of the retina, Cystoid macular edema, Nummular pigmentation of the fund...	OMIM:618613
Bile Acid Conjugation Defect 1	Jaundice, Hepatomegaly, Elevated circulating alanine aminotransferase concentration, Elevated cir...	OMIM:619232
Irvan Syndrome	Optic atrophy, Retinal exudate, Retinal detachment, Vitreous floaters, Tractional retinal detachm...	ORPHA:209943
Biliary Atresia, Extrahepatic	Cirrhosis, Jaundice, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Porta...	OMIM:210500
Congenital Bile Acid Synthesis Defect Type 1	Cirrhosis, Jaundice, Elevated circulating hepatic transaminase concentration, Hepatomegaly, Bilia...	ORPHA:79301
Cholestasis, Progressive Familial Intrahepatic, 12	Jaundice, Hepatomegaly, Cholestasis, Elevated circulating alanine aminotransferase concentration,...	OMIM:620010
Glycogen Storage Disease Vi	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Increased hepatic glycogen...	OMIM:232700
Mitochondrial Complex Iv Deficiency, Nuclear Type 15	Brain atrophy, Hyperglycinemia, Hyperalaninemia, Pigmentary retinopathy	OMIM:619059
Oculocutaneous Albinism Type 4	Optic nerve misrouting, Hypopigmentation of hair, Hypopigmentation of the skin, White hair, Iris ...	ORPHA:79435
Laurence-Moon Syndrome	Chorioretinal atrophy, Pigmentary retinopathy	OMIM:245800
Joubert Syndrome 28	Optic disc pallor, Pigmentary retinopathy	OMIM:617121
Retinal Dystrophy And Obesity	Retinal dystrophy, Retinal detachment, Retinal dots, Attenuation of retinal blood vessels, Peripa...	OMIM:616188
Retinitis Pigmentosa 77	Bone spicule pigmentation of the retina, Cystoid macular edema, Retinal atrophy, Attenuation of r...	OMIM:617304
Juvenile Paget Disease	Optic atrophy, Abnormality of retinal pigmentation, Melanocytic nevus, Hyperuricemia	ORPHA:2801
Retinitis Pigmentosa 10	Bone spicule pigmentation of the retina, Geographic atrophy, Bull's eye maculopathy, Attenuation ...	OMIM:180105
Retinitis Pigmentosa 51	Attenuation of retinal blood vessels, Macular degeneration, Bone spicule pigmentation of the reti...	OMIM:613464
Jalili Syndrome	Bone spicule pigmentation of the retina, Cone/cone-rod dystrophy, Attenuation of retinal blood ve...	OMIM:217080
Waardenburg-Shah Syndrome	Premature graying of hair, Aganglionic megacolon, Hypopigmentation of hair, White forelock, Abnor...	ORPHA:897
Cholestasis, Progressive Familial Intrahepatic, 3	Cirrhosis, Jaundice, Intrahepatic cholestasis, Elevated circulating hepatic transaminase concentr...	OMIM:602347
Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies	Hyperactivity, Self-injurious behavior, Aggressive behavior	OMIM:619031
Encephalopathy Due To Prosaposin Deficiency	Hepatomegaly, Splenomegaly	ORPHA:139406
Jalili Syndrome	Optic atrophy, Abnormality of retinal pigmentation	ORPHA:1873
Retinitis Pigmentosa 3	Perifoveal hypoautofluorescence, Bone spicule pigmentation of the retina, Rod-cone dystrophy	OMIM:300029
Canavan Disease	Optic atrophy, Abnormality of retinal pigmentation	ORPHA:141
Cone-Rod Dystrophy 8	Macular degeneration, Abnormal optic nerve morphology, Cone/cone-rod dystrophy, Abnormality of re...	OMIM:605549
Hyperbilirubinemia, Shunt, Primary	Jaundice, Splenomegaly, Hepatomegaly	OMIM:237800
Retinitis Pigmentosa 83	Bone spicule pigmentation of the retina, Asteroid hyalosis, Cystoid macular edema, Vitreous float...	OMIM:618173
Retinitis Pigmentosa 58	Bone spicule pigmentation of the retina, Macular degeneration, Attenuation of retinal blood vesse...	OMIM:613617
Tricho-Retino-Dento-Digital Syndrome	Abnormality of retinal pigmentation	ORPHA:1264
Blepharoptosis-Myopia-Ectopia Lentis Syndrome	Abnormality of retinal pigmentation	ORPHA:1259
Congenital Muscular Dystrophy With Intellectual Disability	Cerebral cortical atrophy, Facial palsy, Elevated circulating creatine kinase concentration, Pigm...	ORPHA:370968
Bile Acid Synthesis Defect, Congenital, 5	Jaundice, Portal fibrosis, Elevated circulating hepatic transaminase concentration, Hepatomegaly,...	OMIM:616278
Ramon Syndrome	Abnormality of retinal pigmentation	ORPHA:3019
Bardet-Biedl Syndrome 3	Rod-cone dystrophy, Pigmentary retinopathy	OMIM:600151
Retinitis Pigmentosa 56	Bone spicule pigmentation of the retina, Pigmentary retinopathy, Attenuation of retinal blood ves...	OMIM:613581
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8	Retinal dysplasia	OMIM:614830
Oculopharyngodistal Myopathy 3	Elevated circulating creatine kinase concentration, Pigmentary retinopathy	OMIM:619473
Multiple Symmetric Lipomatosis	Hepatomegaly	ORPHA:2398
Cholestasis-Lymphedema Syndrome	Cirrhosis, Jaundice, Elevated circulating hepatic transaminase concentration, Hepatomegaly, Splen...	OMIM:214900
Choroidal Atrophy-Alopecia Syndrome	Abnormality of retinal pigmentation, Patchy atrophy of the retinal pigment epithelium	ORPHA:1433
Sclerosing Cholangitis, Neonatal	Cirrhosis, Jaundice, Portal fibrosis, Hepatomegaly, Sclerosing cholangitis, Acholic stools, Chole...	OMIM:617394
Retinitis Pigmentosa 43	Bone spicule pigmentation of the retina, Pigmentary retinopathy, Attenuation of retinal blood ves...	OMIM:613810
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type	Hyperactivity, Attention deficit hyperactivity disorder, Impulsivity	OMIM:301008
Birt-Hogg-Dubé Syndrome	Abnormality of retinal pigmentation	ORPHA:122
Mulibrey Nanism	Hepatomegaly	ORPHA:2576
Retinitis Pigmentosa 45	Macular degeneration, Bone spicule pigmentation of the retina, Rod-cone dystrophy	OMIM:613767
Retinitis Pigmentosa 25	Bone spicule pigmentation of the retina, Chorioretinal atrophy, Attenuation of retinal blood vess...	OMIM:602772
Mitochondrial Complex I Deficiency, Nuclear Type 11	Pigmentary retinopathy	OMIM:618234
Cerebellar Ataxia-Hypogonadism Syndrome	Optic atrophy, Abnormality of retinal pigmentation	ORPHA:1173
Congenital Toxoplasmosis	Abnormality of retinal pigmentation	ORPHA:858
Peroxisome Biogenesis Disorder 8A (Zellweger)	Elevated circulating aspartate aminotransferase concentration, Jaundice, Hepatomegaly	OMIM:614876
Blindness-Scoliosis-Arachnodactyly Syndrome	Retinal detachment, Abnormality of retinal pigmentation	ORPHA:171844
Congenital Disorder Of Glycosylation, Type Iir	Decreased liver function, Jaundice, Elevated circulating hepatic transaminase concentration, Hepa...	OMIM:301045
Developmental And Epileptic Encephalopathy 28	Optic atrophy, Retinal degeneration, Cerebral atrophy, Blue sclerae	OMIM:616211
Cyanosis, Transient Neonatal	Jaundice, Hepatomegaly	OMIM:613977
Heimler Syndrome 1	Macular dystrophy, Retinal pigment epithelial mottling	OMIM:234580
Microcephaly-Cleft Palate-Abnormal Retinal Pigmentation Syndrome	Abnormality of retinal pigmentation	ORPHA:2521
Senior-Loken Syndrome 7	Retinal degeneration	OMIM:613615
Retinitis Pigmentosa 49	Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Rod-cone dystrophy...	OMIM:613756
Cholestasis, Progressive Familial Intrahepatic, 10	Jaundice, Portal fibrosis, Hepatomegaly, Elevated circulating alanine aminotransferase concentrat...	OMIM:619868
Intellectual Developmental Disorder And Retinitis Pigmentosa	Bone spicule pigmentation of the retina, Macular degeneration, Attenuation of retinal blood vesse...	OMIM:618195
Galactose Mutarotase Deficiency	Decreased liver function, Hepatomegaly, Cholestasis	ORPHA:570422
Wolman Disease	Hepatomegaly, Acute hepatic failure, Splenomegaly	OMIM:620151
Neonatal Adrenoleukodystrophy	Optic atrophy, Abnormality of retinal pigmentation	ORPHA:44
Congenital Respiratory-Biliary Fistula	Abnormality of the liver	ORPHA:2040
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome	Abnormality of retinal pigmentation, Cerebellar atrophy	ORPHA:3085
Myopia, High, With Cataract And Vitreoretinal Degeneration	Retinal detachment, Peripheral vitreoretinal degeneration, Vitreous floaters, Lattice retinal deg...	OMIM:614292
Oculocutaneous Albinism Type 1B	Hypopigmentation of hair, Hypopigmentation of the skin, Abnormal optic nerve morphology, Iris hyp...	ORPHA:79434
Retinitis Pigmentosa 14	Bone spicule pigmentation of the retina, Rod-cone dystrophy, Optic disc pallor, Retinal arteriola...	OMIM:600132
Vitreoretinochoroidopathy	Retinal detachment, Abnormality of chorioretinal pigmentation, Retinal arteriolar occlusion, Reti...	OMIM:193220
Long Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency	Retinopathy, Abnormal chorioretinal morphology, Abnormality of retinal pigmentation, Chorioretina...	ORPHA:5
Autosomal Recessive Spastic Paraplegia Type 15	Retinal flecks, Pigmentary retinopathy, Yellow/white lesions of the retina	ORPHA:100996
Severe Early-Childhood-Onset Retinal Dystrophy	Granular macular appearance, Macular coloboma, Bone spicule pigmentation of the retina, Retinal d...	ORPHA:364055
Jeune Syndrome	Abnormality of retinal pigmentation	ORPHA:474
Galactose Epimerase Deficiency	Jaundice, Splenomegaly, Hepatomegaly	ORPHA:79238
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 2	Cerebral cortical atrophy, Facial palsy, Elevated circulating creatine kinase concentration, Pigm...	OMIM:613156
Macrosomia-Microphthalmia-Cleft Palate Syndrome	Hepatomegaly	ORPHA:2432
Adult-Onset Chronic Progressive External Ophthalmoplegia With Mitochondrial Myopathy	Pigmentary retinopathy	ORPHA:329336
Cone-Rod Dystrophy 2	Bone spicule pigmentation of the retina, Chorioretinal atrophy, Cone/cone-rod dystrophy, Retinal ...	OMIM:120970
Cholestasis, Benign Recurrent Intrahepatic, 2	Jaundice, Intrahepatic cholestasis, Cholelithiasis, Hepatomegaly	OMIM:605479
Cone-Rod Dystrophy 10	Attenuation of retinal blood vessels, Macular degeneration, Bone spicule pigmentation of the reti...	OMIM:610283
Kenny-Caffey Syndrome, Type 2	Transient hypophosphatemia, Retinal calcification, Hypocalcemia, Papilledema, Hyperphosphatemia	OMIM:127000
Exudative Vitreoretinopathy 2, X-Linked	Retinal detachment, Retinal fold, Intraretinal exudate, Peripheral vitreous opacities, Exudative ...	OMIM:305390
Retinitis Punctata Albescens	Yellow/white lesions of the retina, Cystoid macular edema, Retinal atrophy, Attenuation of retina...	ORPHA:52427
Zika Virus Disease	Optic disc hypoplasia, Chorioretinal atrophy, Abnormal optic disc morphology, Increased circulati...	ORPHA:448237
Desmoid Tumor	Abnormality of retinal pigmentation	ORPHA:873
Congenital Disorder Of Glycosylation, Type Iio	Cholestatic liver disease, Cirrhosis, Hepatomegaly, Elevated circulating hepatic transaminase con...	OMIM:616828
Retinitis Pigmentosa, Deafness, Mental Retardation, And Hypogonadism	Cerebral atrophy, Cerebellar atrophy, Rod-cone dystrophy, Pigmentary retinopathy	OMIM:268020
Oculocutaneous Albinism Type 2	Blue irides, Optic nerve misrouting, Macular hypopigmentation, Iris transillumination defect, Hyp...	ORPHA:79432
Mitochondrial Complex Ii Deficiency, Nuclear Type 1	Optic atrophy, Pigmentary retinopathy	OMIM:252011
Retinitis Pigmentosa 37	Cystoid macular degeneration, Rod-cone dystrophy, Pigmentary retinopathy	OMIM:611131
Vici Syndrome	Optic atrophy, Hypopigmentation of the skin, Cerebral cortical atrophy, Decreased circulating IgG...	ORPHA:1493
Retinitis Pigmentosa 60	Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels, Retinal pigment ep...	OMIM:613983
Hemochromatosis, Type 2B	Cirrhosis, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Splenomegaly, H...	OMIM:613313
Posterior Column Ataxia With Retinitis Pigmentosa	Optic atrophy, Decreased sensory nerve conduction velocity, Bone spicule pigmentation of the reti...	OMIM:609033
Neonatal Severe Primary Hyperparathyroidism	Hepatomegaly, Splenomegaly	ORPHA:417
Hepatic Veno-Occlusive Disease	Jaundice, Elevated circulating hepatic transaminase concentration, Ascites, Hepatomegaly	ORPHA:890
Cholestasis, Benign Recurrent Intrahepatic, 1	Intrahepatic cholestasis with episodic jaundice, Hepatomegaly, Pancreatitis, Intermittent jaundice	OMIM:243300
Retinitis Pigmentosa 72	Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels, Peripapillary atro...	OMIM:616469
Cardiomyopathy, Familial Restrictive, 6	Hepatic artery hyperplasia, Hepatomegaly, Portal vein hypoplasia, Ascites	OMIM:619433
Corpus Callosum Agenesis-Neuronopathy Syndrome	Abnormality of retinal pigmentation	ORPHA:1496
Mucolipidosis Type Iv	Retinopathy, Abnormality of retinal pigmentation	ORPHA:578
Pediatric Hepatocellular Carcinoma	Portal vein thrombosis, Hepatic fibrosis, Hepatomegaly, Hepatic necrosis	ORPHA:33402
Neurodevelopmental Disorder With Seizures And Brain Abnormalities	Retinal pigment epithelial mottling	OMIM:619517
Retinal Dystrophy With Or Without Macular Staphyloma	Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Retinal pigment ep...	OMIM:617547
Acute Zonal Occult Outer Retinopathy	Vitritis, Marcus Gunn pupil, Pigmentary retinopathy, Abnormal fundus fluorescein angiography, Mac...	ORPHA:284454
Enhanced S-Cone Syndrome	Vitreoretinopathy, Macular edema, Pigmentary retinopathy, Retinoschisis	OMIM:268100
Immunodeficiency 42	Hepatomegaly, Splenomegaly	OMIM:616622
Retinitis Pigmentosa 66	Bone spicule pigmentation of the retina, Rod-cone dystrophy, Optic disc pallor	OMIM:615233
Progressive Familial Intrahepatic Cholestasis	Jaundice, Cholestasis, Splenomegaly, Hepatomegaly	ORPHA:172
Bardet-Biedl Syndrome 6	Rod-cone dystrophy, Pigmentary retinopathy	OMIM:605231
Autosomal Recessive Chorioretinopathy-Microcephaly Syndrome	Optic atrophy, Abnormality of retinal pigmentation, Cerebral cortical atrophy	ORPHA:2518
Beta-Thalassemia, Dominant Inclusion Body Type	Hepatomegaly, Splenomegaly	OMIM:603902
Hepatitis, Fulminant Viral, Susceptibility To	Jaundice, Elevated circulating hepatic transaminase concentration, Hepatomegaly, Fulminant hepati...	OMIM:618549
Arthrogryposis, Distal, Type 5	Abnormality of retinal pigmentation, Retinal fold	OMIM:108145
Galactosemia Iii	Jaundice, Splenomegaly, Hepatomegaly	OMIM:230350
Stiff Skin Syndrome	Retinal detachment, Abnormal circulating lipid concentration	ORPHA:2833
Developmental And Epileptic Encephalopathy 43	Hyperactivity, Attention deficit hyperactivity disorder, Impulsivity	OMIM:617113
Bardet-Biedl Syndrome 9	Attenuation of retinal blood vessels, Retinal degeneration, Bone spicule pigmentation of the reti...	OMIM:615986
Juvenile Neuronal Ceroid Lipofuscinosis	Cerebral atrophy, Cerebellar atrophy, Pigmentary retinopathy, Retinal degeneration, Optic disc pa...	ORPHA:79264
Neurocutaneous Melanocytosis	Abnormality of retinal pigmentation, Chorioretinal coloboma, Melanocytic nevus, Generalized hyper...	ORPHA:2481
Exudative Vitreoretinopathy 1	Posterior vitreous detachment, Retinal exudate, Retinal detachment, Vitreous floaters, Ectopic fo...	OMIM:133780
Myopia 28, Autosomal Recessive	Retinal detachment	OMIM:619781
Spinocerebellar Ataxia, Autosomal Recessive 21	Hepatomegaly, Hepatic bridging fibrosis, Splenomegaly, Hepatic fibrosis, Hepatic failure	OMIM:616719
Ataxia With Vitamin E Deficiency	Abnormality of retinal pigmentation	ORPHA:96
Hypereosinophilic Syndrome, Idiopathic	Hepatomegaly, Splenomegaly	OMIM:607685
Reese Retinal Dysplasia	Remnants of the hyaloid vascular system, Retinal dysplasia	OMIM:266400
Retinitis Pigmentosa 75	Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Rod-cone dystrophy	OMIM:617023
Intellectual Developmental Disorder, X-Linked 77	Hyperactivity	OMIM:300454
Isolated Polycystic Liver Disease	Hepatomegaly, Abnormality of the pancreas, Polycystic liver disease	ORPHA:2924
Dubin-Johnson Syndrome	Abnormality of the liver, Biliary tract abnormality, Jaundice, Hepatomegaly	ORPHA:234
Cholesteryl Ester Storage Disease	Cirrhosis, Jaundice, Hepatomegaly, Splenomegaly, Hepatic failure	ORPHA:75234
Vitreoretinal Degeneration, Snowflake Type	Retinal detachment, Retinal dots, Optically empty vitreous, Snowflake vitreoretinal degeneration	OMIM:193230
Vitreoretinopathy, Neovascular Inflammatory	Posterior retinal neovascularization, Peripheral retinal neovascularization, Retinal detachment, ...	OMIM:193235
Erythroleukemia, Familial, Susceptibility To	Hepatomegaly, Splenomegaly	OMIM:133180
Retinitis Pigmentosa And Erythrocytic Microcytosis	Bone spicule pigmentation of the retina, Photoreceptor layer loss on macular OCT, Retinal atrophy...	OMIM:616959
Classic Pantothenate Kinase-Associated Neurodegeneration	Rod-cone dystrophy, Optic disc pallor, Pigmentary retinopathy	ORPHA:216866
Coats Disease	Retinal telangiectasia, Exudative retinal detachment, Leukocoria	OMIM:300216
Pseudoxanthoma Elasticum, Forme Fruste	Macular degeneration, Blue sclerae, Angioid streaks of the fundus, Retinal hemorrhage	OMIM:177850
Congenital Rubella Syndrome	Abnormality of retinal pigmentation	ORPHA:290
Bile Acid Synthesis Defect, Congenital, 3	Cirrhosis, Jaundice, Intrahepatic cholestasis, Hepatomegaly, Acholic stools, Elevated circulating...	OMIM:613812
Portal Hypertension, Noncirrhotic, 2	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Hepatocellular carcinoma, ...	OMIM:619463
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
Leigh Syndrome	Optic atrophy, Pigmentary retinopathy	OMIM:256000
Intellectual Developmental Disorder, X-Linked, Syndromic, Pilorge Type	Hyperactivity, Inflexible adherence to routines	OMIM:301076
Autosomal Dominant Kenny-Caffey Syndrome	Hypocalcemic seizures, Retinal calcification, Papilledema, Hypocalcemic tetany, Hyperphosphatemia	ORPHA:93325
Retinitis Pigmentosa	Optic atrophy, Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels, Abn...	ORPHA:791
Chromosome 16Q12 Duplication Syndrome	Retinal pigment epithelial mottling, Central thinning of the outer nuclear layer of the retina, T...	OMIM:619649
Chromosome Xp11.3 Deletion Syndrome	Optic atrophy, Attenuation of retinal blood vessels, Rod-cone dystrophy, Pigmentary retinopathy	OMIM:300578
Joubert Syndrome 3	Retinal dystrophy, Pigmentary retinopathy	OMIM:608629
Intellectual Developmental Disorder, Autosomal Dominant 67	Hyperactivity, Attention deficit hyperactivity disorder, Compulsive behaviors, Motor tics	OMIM:619927
Retinoblastoma	Retinoblastoma, Retinal calcification, Subretinal pigment epithelium hemorrhage, Heterochromia ir...	ORPHA:790
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency	Cirrhosis, Hepatomegaly, Portal fibrosis, Elevated circulating hepatic transaminase concentration...	ORPHA:369
Aceruloplasminemia	Decreased circulating ceruloplasmin concentration, Decreased circulating copper concentration, Ma...	ORPHA:48818
Temtamy Preaxial Brachydactyly Syndrome	Optic atrophy, Blue sclerae	OMIM:605282
Severe Oculo-Renal-Cerebellar Syndrome	Optic atrophy, Abnormality of retinal pigmentation, Hypopigmented skin patches, Abnormal retinal ...	ORPHA:2715
Cholestasis, Progressive Familial Intrahepatic, 8	Cirrhosis, Jaundice, Hepatomegaly, Sclerosing cholangitis, Cholestasis, Portal hypertension, Elev...	OMIM:619662
Cholestasis-Lymphedema Syndrome	Cirrhosis, Jaundice, Hepatomegaly, Portal hypertension, Biliary tract abnormality, Splenomegaly, ...	ORPHA:1414
Lowry-Wood Syndrome	Abnormality of retinal pigmentation	ORPHA:1824
Abetalipoproteinemia	Retinopathy, Retinal degeneration, Abetalipoproteinemia	OMIM:200100
Cholestasis, Progressive Familial Intrahepatic, 2	Cirrhosis, Intrahepatic cholestasis, Hepatomegaly, Hepatocellular carcinoma, Intermittent jaundic...	OMIM:601847
Cone-Rod Dystrophy 6	Bone spicule pigmentation of the retina, Chorioretinal atrophy, Cone/cone-rod dystrophy, Attenuat...	OMIM:601777
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type	Retinopathy, Retinal pigment epithelial mottling	OMIM:219900
Retinoblastoma	Vitreous hemorrhage, Retinal calcification, Vitritis, Retinoblastoma	OMIM:180200
Anemia, Sideroblastic, 3, Pyridoxine-Refractory	Cirrhosis, Jaundice, Elevated circulating hepatic transaminase concentration, Hepatomegaly, Eleva...	OMIM:616860
Bardet-Biedl Syndrome 17	Bone spicule pigmentation of the retina, Cone/cone-rod dystrophy, Retinal degeneration, Rod-cone ...	OMIM:615994
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome	Bone spicule pigmentation of the retina, Axonal degeneration, Abnormal sensory nerve conduction v...	ORPHA:88628
Retinitis Pigmentosa 74	Rod-cone dystrophy, Pigmentary retinopathy, Optic disc pallor	OMIM:616562
Amyloidosis, Familial Visceral	Hepatomegaly, Cholestasis, Splenomegaly	OMIM:105200
Exudative Vitreoretinopathy 6	Posterior vitreous detachment, Retinal exudate, Patchy atrophy of the retinal pigment epithelium,...	OMIM:616468
Ectopia Lentis Et Pupillae	Retinal detachment, Iris transillumination defect, Persistent pupillary membrane, Ectopia pupillae	OMIM:225200
Bile Acid Synthesis Defect, Congenital, 1	Cirrhosis, Jaundice, Intrahepatic cholestasis, Elevated circulating hepatic transaminase concentr...	OMIM:607765
Methylmalonate Semialdehyde Dehydrogenase Deficiency	Methylmalonic acidemia, Retinal pigment epithelial mottling	OMIM:614105
Mevalonic Aciduria	Cerebral atrophy, Elevated circulating C-reactive protein concentration, Cerebellar atrophy, Elev...	OMIM:610377
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia	Mottled pigmentation of photoexposed areas, Pigmentary retinopathy	OMIM:560000
Bile Acid Synthesis Defect, Congenital, 2	Jaundice, Intrahepatic cholestasis, Elevated circulating hepatic transaminase concentration, Hepa...	OMIM:235555
Mulibrey Nanism	Pigmentary retinopathy	OMIM:253250
Mitochondrial Trifunctional Protein Deficiency 1	Hyperammonemia, Elevated circulating acylcarnitine concentration, Elevated circulating creatine k...	OMIM:609015
Hypobetalipoproteinemia, Familial, 1	Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hypocholesterolemia, Decreased LDL...	OMIM:615558
Autoinflammation With Episodic Fever And Lymphadenopathy	Hepatomegaly, Splenomegaly	OMIM:618852
Congenital Bile Acid Synthesis Defect Type 4	Elevated circulating creatine kinase concentration, Pigmentary retinopathy	ORPHA:79095
Multiple Sulfatase Deficiency	Optic atrophy, Abnormality of retinal pigmentation, Abnormality of peripheral nerve conduction	ORPHA:585
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly	Retinal pigment epithelial mottling	OMIM:617102
Chromosome 6Pter-P24 Deletion Syndrome	Blue sclerae, Pigmentary retinopathy	OMIM:612582
Familial Partial Lipodystrophy, Köbberling Type	Hepatic steatosis, Hepatomegaly, Pancreatitis	ORPHA:79084
Refsum Disease	Retinopathy, Abnormality of retinal pigmentation	ORPHA:773
Dietary Iron Overload Disease	Hepatomegaly, Abnormal pancreas morphology, Hepatocellular carcinoma, Hepatic periportal necrosis...	ORPHA:139507
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome	Retinal thinning, Hypotriglyceridemia, Retinal atrophy, Cone/cone-rod dystrophy, Abnormality of r...	ORPHA:85167
Holoprosencephaly-Craniosynostosis Syndrome	Abnormality of retinal pigmentation	ORPHA:2163
Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction	Optic atrophy, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Optic disc pallor	OMIM:268315
Alpha-1-Antitrypsin Deficiency	Cirrhosis, Jaundice, Hepatomegaly, Hepatocellular carcinoma, Cholestasis, Hepatitis, Hepatic failure	ORPHA:60
Joubert Syndrome 8	Pigmentary retinopathy, Optic disc pallor	OMIM:612291
Night Blindness, Congenital Stationary, Type 1B	Congenital stationary night blindness, Bone spicule pigmentation of the retina	OMIM:257270
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1	Increased circulating ferritin concentration, Pigmentary retinopathy	OMIM:600462
Isolated Succinate-Coq Reductase Deficiency	Pigmentary retinopathy	ORPHA:3208
Glycogen Storage Disease Ixb	Hepatomegaly, Splenomegaly, Increased hepatic glycogen content	OMIM:261750
Budd-Chiari Syndrome	Cirrhosis, Jaundice, Elevated circulating hepatic transaminase concentration, Hepatomegaly, Ascit...	ORPHA:131
Klatskin Tumor	Cholangiocarcinoma, Jaundice, Extrahepatic cholestasis, Hepatomegaly	ORPHA:99978
Glycogen Storage Disease Ixc	Cirrhosis, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Increased hepat...	OMIM:613027
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6	Optic atrophy, Elevated circulating creatine kinase concentration, Pigmentary retinopathy, Retina...	OMIM:613154
Coloboma Of Optic Nerve	Retinal detachment, Optic disc coloboma	OMIM:120430
Maternal Uniparental Disomy Of Chromosome 4	Optic atrophy, Elevated circulating creatine kinase concentration, Abetalipoproteinemia, Decrease...	ORPHA:96180
Marshall-Smith Syndrome	Optic atrophy, Blue sclerae	ORPHA:561
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome	Jaundice, Hepatomegaly, Cholestasis, Portal hypertension, Splenomegaly	ORPHA:59303
Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly	Inappropriate behavior, Nail-biting, Hyperactivity, Attention deficit hyperactivity disorder, Sel...	OMIM:619827
Sensorineural Hearing Loss-Early Graying-Essential Tremor Syndrome	Premature graying of hair, Blue sclerae, Heterochromia iridis	ORPHA:66633
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities	Optic atrophy, Blue sclerae	OMIM:619383
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)	Jaundice, Hepatomegaly, Microvesicular hepatic steatosis, Cholestasis, Elevated circulating alani...	OMIM:618528
Meckel Syndrome, Type 3	Hepatic fibrosis, Hepatomegaly, Malformation of the hepatic ductal plate, Bile duct proliferation	OMIM:607361
Neutropenia, Severe Congenital, 5, Autosomal Recessive	Enlarged kidney, Hepatomegaly, Splenomegaly	OMIM:615285
Alpha-Heavy Chain Disease	Ascites, Hepatomegaly, Splenomegaly	ORPHA:100025
Brittle Cornea Syndrome	Retinal detachment, Blue sclerae, Abnormality of hair pigmentation	ORPHA:90354
Wolfram Syndrome 1	Optic atrophy, Cerebral atrophy, Pigmentary retinopathy	OMIM:222300
Leber Congenital Amaurosis 15	Optic disc pallor, Attenuation of retinal blood vessels, Peripapillary atrophy, Retinal degenerat...	OMIM:613843
Micro Syndrome	Optic atrophy, Abnormality of retinal pigmentation, Cerebral cortical atrophy, Retinal coloboma	ORPHA:2510
Lowry-Wood Syndrome	Pigmentary retinopathy	OMIM:226960
Propionic Acidemia	Hepatomegaly	ORPHA:35
Female Restricted Epilepsy With Intellectual Disability	Hyperactivity, Compulsive behaviors, Impulsivity, Abnormal eating behavior, Aggressive behavior	ORPHA:101039
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency	Decreased circulating carnitine concentration, Abnormal circulating acylcarnitine concentration, ...	ORPHA:71212
Retinal Dystrophy And Iris Coloboma With Or Without Cataract	Retinal atrophy, Posterior synechiae of the anterior chamber, Iris coloboma	OMIM:616722
Mast Cell Sarcoma	Hepatomegaly, Splenomegaly	ORPHA:66661
Xeroderma Pigmentosum, Complementation Group B	Optic atrophy, Decreased nerve conduction velocity, Cerebellar atrophy, Freckling, Pigmentary ret...	OMIM:610651
Osteoporosis-Pseudoglioma Syndrome	Retinal calcification, Vitreoretinopathy, Exudative retinopathy	OMIM:259770
Dystonia, Childhood-Onset, With Optic Atrophy And Basal Ganglia Abnormalities	Optic atrophy, Optic disc pallor, Pigmentary retinopathy	OMIM:617282
Cholestasis, Progressive Familial Intrahepatic, 1	Cirrhosis, Jaundice, Hepatomegaly, Cholelithiasis, Intrahepatic cholestasis with episodic jaundic...	OMIM:211600
Lipodystrophy, Congenital Generalized, Type 3	Hepatic steatosis, Hepatomegaly, Hepatosplenomegaly, Splenomegaly	OMIM:612526
Peroxisome Biogenesis Disorder 2A (Zellweger)	Optic nerve dysplasia, Elevated circulating long chain fatty acid concentration, Pigmentary retin...	OMIM:214110
Infantile Liver Failure Syndrome 3	Jaundice, Elevated circulating hepatic transaminase concentration, Hepatomegaly, Cholestasis, Hep...	OMIM:618641
Neuromuscular Oculoauditory Syndrome	Decreased nerve conduction velocity, Elevated circulating creatine kinase concentration, Decrease...	OMIM:618733
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome	Rod-cone dystrophy, Pigmentary retinopathy	ORPHA:2235
Cohen Syndrome	Optic atrophy, Bull's eye maculopathy, Bone spicule pigmentation of the retina, Chorioretinal dys...	OMIM:216550
Hemochromatosis, Type 2A	Cirrhosis, Hepatomegaly, Splenomegaly	OMIM:602390
Temtamy Preaxial Brachydactyly Syndrome	Optic atrophy, Blue sclerae, Abnormal optic disc morphology	ORPHA:363417
Pantothenate Kinase-Associated Neurodegeneration	Optic atrophy, Pallidal degeneration, Bull's eye maculopathy, Abetalipoproteinemia, Retinal degen...	ORPHA:157850
Neurodevelopmental Disorder With Microcephaly And Gray Sclerae	Cerebral atrophy, Blue sclerae	OMIM:617051
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome	Generalized hypopigmentation, Abnormality of retinal pigmentation, Multiple cafe-au-lait spots, M...	ORPHA:1969
Pseudoxanthoma Elasticum	Retinopathy, Blue sclerae, Angioid streaks of the fundus, Retinal hemorrhage	ORPHA:758
Hereditary Methemoglobinemia	Global brain atrophy, Frontal cortical atrophy, Cerebellar atrophy, Blue sclerae, Temporal cortic...	ORPHA:621
Cholesteryl Ester Storage Disease	Cirrhosis, Hepatomegaly, Periportal fibrosis, Portal hypertension, Elevated circulating alanine a...	OMIM:278000
Glycogen Storage Disease Ixa1	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Splenomegaly	OMIM:306000
Hemochromatosis, Type 4	Cirrhosis, Hepatomegaly, Hepatic steatosis	OMIM:606069
Kearns-Sayre Syndrome	Pigmentary retinopathy	OMIM:530000
Prolidase Deficiency	White forelock, Abnormality of retinal pigmentation	ORPHA:742
Mitochondrial Myopathy-Cerebellar Ataxia-Pigmentary Retinopathy Syndrome	Mildly elevated creatine kinase, Optic disc pallor, Pigmentary retinopathy	ORPHA:502423
Fish-Eye Disease	Hepatomegaly, Splenomegaly	ORPHA:79292
Carnitine Palmitoyltransferase Ii Deficiency, Infantile	Cardiomegaly, Elevated circulating hepatic transaminase concentration, Hepatomegaly, Macrovesicul...	OMIM:600649
Myopathy, Mitochondrial, And Ataxia	Elevated circulating creatine kinase concentration, Pigmentary retinopathy	OMIM:617675
Incontinentia Pigmenti	Abnormal chorioretinal morphology, Irregular hyperpigmentation, Hypopigmented skin patches, Retin...	ORPHA:464
Mucopolysaccharidosis, Type Ii	Papilledema, Abnormality of retinal pigmentation, Neurodegeneration	OMIM:309900
Usher Syndrome	Cerebral cortical atrophy, Abnormality of retinal pigmentation	ORPHA:886
Mevalonic Aciduria	Cerebral cortical atrophy, Blue sclerae	ORPHA:29
Bile Acid Synthesis Defect, Congenital, 4	Intrahepatic cholestasis, Hepatomegaly, Elevated circulating hepatic transaminase concentration, ...	OMIM:214950
Caroli Disease	Cirrhosis, Intrahepatic cholestasis, Jaundice, Cholangitis, Cholelithiasis, Hepatomegaly, Liver a...	ORPHA:53035
Triokinase And Fmn Cyclase Deficiency Syndrome	Hepatic steatosis, Hepatomegaly, Pancreatitis, Elevated circulating alanine aminotransferase conc...	OMIM:618805
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Lysyl Hydroxylase 1 Deficiency	Retinal detachment, Abnormality of the brachial nerve plexus, Blue sclerae	ORPHA:1900
Pontocerebellar Hypoplasia, Type 1F	Cerebral atrophy, Blue sclerae	OMIM:619304
Musculocontractural Ehlers-Danlos Syndrome	Retinal detachment, Blue sclerae	ORPHA:2953
Hyperzincemia With Functional Zinc Depletion	Hepatomegaly	OMIM:601979
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy	Optic atrophy, Pigmentary retinopathy	ORPHA:436271
Chédiak-Higashi Syndrome	Hypertriglyceridemia, Decreased nerve conduction velocity, Increased proportion of CD25+ mast cel...	ORPHA:167
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis	Jaundice, Hepatomegaly, Sclerosing cholangitis, Intrahepatic biliary atresia, Cholestasis, Portal...	OMIM:607626
Parenteral Nutrition-Associated Cholestasis	Cirrhosis, Jaundice, Elevated circulating hepatic transaminase concentration, Hepatomegaly, Chole...	ORPHA:567983
Anemia, Congenital Dyserythropoietic, Type Ib	Jaundice, Splenomegaly, Hepatomegaly	OMIM:615631
Abetalipoproteinemia	Decreased HDL cholesterol concentration, Hypotriglyceridemia, Hyperbilirubinemia, Abnormal circul...	ORPHA:14
Laron Syndrome	Blue sclerae	OMIM:262500
Leukodystrophy, Hypomyelinating, 25	Blue sclerae	OMIM:620243
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis	Jaundice, Exocrine pancreatic insufficiency, Splenomegaly, Hepatomegaly	OMIM:612714
Methylmalonic Acidemia With Homocystinuria, Type Cblc	Optic atrophy, Macular coloboma, Cerebral atrophy, Methylmalonic acidemia, Hyperhomocystinemia, A...	ORPHA:79282
Mitochondrial Trifunctional Protein Deficiency	Hypocalcemia, Pigmentary retinopathy	ORPHA:746
Cartilage-Hair Hypoplasia	Aganglionic megacolon, Hypocalcemia, Decreased circulating antibody level, Blue sclerae, Abnormal...	ORPHA:175
Autoinflammation With Pulmonary And Cutaneous Vasculitis	Hepatomegaly, Splenomegaly	OMIM:620296
Congenital Pulmonary Lymphangiectasia	Ascites, Hepatomegaly, Splenomegaly	ORPHA:2414
Mitochondrial Complex Iv Deficiency, Nuclear Type 1	Optic atrophy, Pigmentary retinopathy	OMIM:220110
Renal-Hepatic-Pancreatic Dysplasia 2	Enlarged kidney, Hepatomegaly, Cholestasis, Asplenia, Hepatic cysts, Hepatic fibrosis, Malformati...	OMIM:615415
Werner Syndrome	Premature graying of hair, Abnormality of retinal pigmentation, White forelock	ORPHA:902
Grubben-De Cock-Borghgraef Syndrome	Blue sclerae	ORPHA:2101
Renal-Hepatic-Pancreatic Dysplasia 1	Cirrhosis, Hyperechogenic pancreas, Hepatomegaly, Enlarged kidney, Cholestasis, Biliary cirrhosis...	OMIM:208540
Harderoporphyria	Prolonged neonatal jaundice, Hepatomegaly, Splenomegaly	OMIM:618892
Cohen Syndrome	Optic atrophy, Abnormality of skin pigmentation, Abnormality of retinal pigmentation, Chorioretin...	ORPHA:193
Osteopetrosis With Renal Tubular Acidosis	Optic atrophy, Hypocalcemia, Retinal atrophy, Elevated circulating creatine kinase concentration,...	ORPHA:2785
Coffin-Lowry Syndrome	Optic atrophy, Abnormality of retinal pigmentation, Cerebral cortical atrophy	ORPHA:192
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia	Perifoveal ring of hyperautofluorescence, Vitiligo, Pigmentary retinopathy	OMIM:240300
Osteopetrosis, Autosomal Dominant 3	Hepatomegaly, Splenomegaly	OMIM:618107
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency	Optic atrophy, Abnormality of retinal pigmentation, Retinal detachment	ORPHA:394
Phakomatosis Pigmentovascularis	Hypopigmented skin patches, Generalized hyperpigmentation, Blue sclerae, Cerebral cortical atrophy	ORPHA:2875
Osteogenesis Imperfecta, Type Xxiii	Blue sclerae	OMIM:620639
Osteopenia-Intellectual Disability-Sparse Hair Syndrome	Blue sclerae	ORPHA:2324
Cockayne Syndrome Type 1	Optic atrophy, Hypermelanotic macule, Absent brainstem auditory responses, Increased blood urea n...	ORPHA:90321
Wilson Disease	Cirrhosis, Jaundice, Elevated circulating hepatic transaminase concentration, Hepatomegaly, Acute...	ORPHA:905
Norrie Disease	Optic atrophy, Retinal detachment, Retinal dysplasia, Retinal fold	OMIM:310600
Hemochromatosis, Type 1	Cirrhosis, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Hepatocellular ...	OMIM:235200
Neurodevelopmental Disorder With Spasticity, Cataracts, And Cerebellar Hypoplasia	Cerebral atrophy, Blue sclerae, Cerebellar atrophy	OMIM:619286
Isolated Biliary Atresia	Decreased liver function, Cirrhosis, Jaundice, Elevated circulating hepatic transaminase concentr...	ORPHA:30391
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Optic atrophy, Brain atrophy, Bone marrow hypocellularity, Increased circulating IgM level, Abnor...	ORPHA:505248
Congenital Bile Acid Synthesis Defect Type 2	Jaundice, Elevated circulating hepatic transaminase concentration, Giant cell hepatitis, Hepatome...	ORPHA:79303
Parietal Foramina 1	Blue sclerae	OMIM:168500
Intellectual Disability-Muscle Weakness-Short Stature-Facial Dysmorphism Syndrome	Blue sclerae	ORPHA:457365
Aicardi Syndrome	Optic atrophy, Retinal detachment, Abnormality of skin pigmentation, Abnormality of retinal pigme...	ORPHA:50
Wolman Disease	Ascites, Hepatomegaly, Splenomegaly, Hepatic failure	ORPHA:75233
Pyruvate Kinase Deficiency Of Red Cells	Jaundice, Hepatomegaly, Cholelithiasis, Splenomegaly, Cholecystitis	OMIM:266200
Ehlers-Danlos Syndrome, Musculocontractural Type, 2	Cerebral atrophy, Blue sclerae	OMIM:615539
Microcephaly-Lymphedema-Chorioretinopathy Syndrome	Optic atrophy, Retinal dysplasia, Retinal dystrophy, Retinal detachment, Abnormal optic nerve mor...	ORPHA:2526
Myopathic Ehlers-Danlos Syndrome	Mildly elevated creatine kinase, Blue sclerae	ORPHA:536516
Laron Syndrome	Blue sclerae, Hypercholesterolemia	ORPHA:633
Bietti Crystalline Corneoretinal Dystrophy	Chorioretinal atrophy, Retinal degeneration	OMIM:210370
Osteogenesis Imperfecta Congenita, Microcephaly, And Cataracts	Blue sclerae	OMIM:259410
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema	Jaundice, Hepatomegaly, Cholelithiasis, Splenomegaly, Hepatitis	OMIM:194380
Silver-Russell Syndrome Due To 7P11.2P13 Microduplication	Blue sclerae	ORPHA:231137
Grant Syndrome	Blue sclerae	ORPHA:2097
Pseudodiastrophic Dysplasia	Blue sclerae	OMIM:264180
Peroxisome Biogenesis Disorder 5A (Zellweger)	Optic nerve dysplasia, Optic atrophy, Increased circulating very long-chain fatty acid concentrat...	OMIM:614866
Silver-Russell Syndrome 2	Blue sclerae	OMIM:618905
Neurodevelopmental Disorder With Absent Language And Variable Seizures	Cafe-au-lait spot, Blue sclerae	OMIM:618707
Desbuquois Syndrome	Blue sclerae	ORPHA:1425
Telo2-Related Intellectual Disability-Neurodevelopmental Disorder	Blue sclerae, Rod-cone dystrophy	ORPHA:488642
Hb Bart'S Hydrops Fetalis	Hepatomegaly, Splenomegaly	ORPHA:163596
Chromosome 8Q21.11 Deletion Syndrome	Pigmentary retinopathy	OMIM:614230
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome	Blue sclerae	ORPHA:2772
Slc39A13-Related Spondylodysplastic Ehlers-Danlos Syndrome	Blue sclerae	ORPHA:157965
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1	Retinal detachment, Blue sclerae	OMIM:225400
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)	Jaundice, Elevated circulating hepatic transaminase concentration, Hepatomegaly, Periportal fibro...	OMIM:251880
Infantile Nephropathic Cystinosis	Abnormal blood ion concentration, Hypokalemia, Hypophosphatemia, Pigmentary retinopathy	ORPHA:411629
Lipodystrophy, Familial Partial, Type 5	Hepatomegaly, Hepatic steatosis	OMIM:615238
Mitochondrial Dna-Associated Leigh Syndrome	Optic atrophy, Hyperalaninemia, Low plasma citrulline, Rod-cone dystrophy, Pigmentary retinopathy	ORPHA:255210
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic	Hepatomegaly, Elevated circulating alanine aminotransferase concentration, Hepatic steatosis, Inc...	OMIM:261680
Methylmalonic Aciduria And Homocystinuria, Cblc Type	Methylmalonic acidemia, Hyperhomocystinemia, Cystathioninemia, Cerebral cortical atrophy, Hypomet...	OMIM:277400
Bardet-Biedl Syndrome 1	Bone spicule pigmentation of the retina, Aganglionic megacolon, Retinal dystrophy, Hyperautofluor...	OMIM:209900
Peroxisome Biogenesis Disorder 1A (Zellweger)	Elevated circulating long chain fatty acid concentration, Pigmentary retinopathy, Cerebral cortic...	OMIM:214100
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z	Decreased distal sensory nerve action potential, Brain atrophy, Atrophy of the spinal cord, Cereb...	ORPHA:466768
Congenital Disorder Of Glycosylation, Type Iiaa	Hepatomegaly, Cholestasis, Biliary cirrhosis, Elevated circulating aspartate aminotransferase con...	OMIM:620454
Liver Failure, Infantile, Transient	Jaundice, Elevated circulating hepatic transaminase concentration, Macrovesicular hepatic steatos...	OMIM:613070
Overhydrated Hereditary Stomatocytosis	Prolonged neonatal jaundice, Jaundice, Splenomegaly, Hepatomegaly	OMIM:185000
Hypermanganesemia With Dystonia 1	Decreased liver function, Cirrhosis, Hepatomegaly, Elevated circulating hepatic transaminase conc...	OMIM:613280
Congenital Myopathy 20	Blue sclerae	OMIM:620310
Short Stature-Brachydactyly-Obesity-Global Developmental Delay Syndrome	Blue sclerae	ORPHA:464288
Apolipoprotein C-Ii Deficiency	Hepatomegaly, Pancreatitis, Splenomegaly	OMIM:207750
Microcephaly, Short Stature, And Impaired Glucose Metabolism 2	Blue sclerae	OMIM:616817
Alstrom Syndrome	Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hyperuricemia, Cone/cone-rod dystr...	OMIM:203800
Neurodegeneration With Brain Iron Accumulation 1	Optic atrophy, Global brain atrophy, Hyperpigmentation of the skin, Cerebral degeneration, Retina...	OMIM:234200
White Forelock With Malformations	White forelock, Blue sclerae	ORPHA:2475
Hallermann-Streiff Syndrome	Blue sclerae, Chorioretinal coloboma, Optic disc coloboma	OMIM:234100
Myelofibrosis	Hepatomegaly, Splenomegaly	OMIM:254450
Congenital Primary Aphakia	Retinal detachment, Optic disc coloboma, Retinal dysplasia	ORPHA:83461
Fetal Cytomegalovirus Syndrome	Jaundice, Elevated circulating hepatic transaminase concentration, Hepatomegaly, Splenomegaly, He...	ORPHA:294
Diastrophic Dysplasia	Blue sclerae	ORPHA:628
Grant Syndrome	Blue sclerae	OMIM:138930
Osteogenesis Imperfecta, Type V	Blue sclerae	OMIM:610967
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome	Blue sclerae	ORPHA:391408
De Barsy Syndrome	Blue sclerae, Abnormal fundus fluorescein angiography	ORPHA:2962
Osteogenesis Imperfecta, Type Xix	Blue sclerae	OMIM:301014
Osteogenesis Imperfecta, Type Ix	Blue sclerae	OMIM:259440
Ramon Syndrome	Optic disc pallor, Pigmentary retinopathy	OMIM:266270
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3	Blue sclerae	OMIM:612350
Beta-Thalassemia Intermedia	Decreased liver function, Cirrhosis, Jaundice, Hepatomegaly, Cholelithiasis, Hepatocellular carci...	ORPHA:231222
Caroli Syndrome	Cirrhosis, Intrahepatic cholestasis, Jaundice, Elevated circulating hepatic transaminase concentr...	ORPHA:480520
Tubulointerstitial Nephritis And Uveitis Syndrome	Choroidal neovascularization, Increased circulating antibody level, Elevated circulating C-reacti...	ORPHA:91500
Pelvic Dysplasia-Arthrogryposis Of Lower Limbs Syndrome	Blue sclerae	ORPHA:2840
Anemia, Hypochromic Microcytic, With Iron Overload 2	Elevated hepatic iron concentration, Hepatomegaly, Splenomegaly	OMIM:615234
Nijmegen Breakage Syndrome	Dysgammaglobulinemia, Cafe-au-lait spot, Progressive vitiligo, Retinal pigment epithelial mottlin...	OMIM:251260
Akt2-Related Familial Partial Lipodystrophy	Hepatomegaly, Hepatic steatosis	ORPHA:79085
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome	Optic atrophy, Cerebral atrophy, Hypotriglyceridemia, Cerebellar atrophy, Pigmentary retinopathy,...	ORPHA:404454
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis	Mildly elevated creatine kinase, Atrophy/Degeneration involving the spinal cord, Retinal pigment ...	OMIM:607459
Silver-Russell Syndrome 1	Cafe-au-lait spot, Blue sclerae	OMIM:180860
Osteogenesis Imperfecta, Type Xii	Blue sclerae	OMIM:613849
Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin	Cerebellar vermis atrophy, Blue sclerae	OMIM:617101
Hypophosphatasia, Infantile	Blue sclerae, Hypercalcemia, Elevated plasma pyrophosphate	OMIM:241500
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease	Enlarged kidney, Hepatomegaly, Periportal fibrosis, Portal hypertension, Splenomegaly, Hepatic cy...	OMIM:263200
Dehydrated Hereditary Stomatocytosis 2	Jaundice, Splenomegaly, Hepatomegaly	OMIM:616689
Mucopolysaccharidosis Type 2	Optic atrophy, Decreased nerve conduction velocity, Retinopathy, Abnormal foveal morphology, Papi...	ORPHA:580
Argininemia	Anorexia, Hepatomegaly, Portal fibrosis, Hyperactivity, Cholestasis, Micronodular cirrhosis	OMIM:207800
Cockayne Syndrome	Optic atrophy, Cerebral atrophy, Decreased nerve conduction velocity, Retinal dystrophy, Hyperuri...	ORPHA:191
Microphthalmia With Linear Skin Defects Syndrome	Hypopigmented skin patches, Abnormal vitreous humor morphology, Retinal dysplasia, Retinal dystro...	ORPHA:2556
Cystinosis, Nephropathic	Cerebral atrophy, Hypophosphatemic rickets, Hypopigmentation of hair, Reduced blood urea nitrogen...	OMIM:219800
Trisomy 18	Abnormality of retinal pigmentation	ORPHA:3380
Osteogenesis Imperfecta, Type Xiv	Blue sclerae	OMIM:615066
Braddock Syndrome	Blue sclerae	ORPHA:52047
Cidec-Related Familial Partial Lipodystrophy	Hepatic steatosis, Hepatomegaly, Pancreatitis	ORPHA:435651
Interstitial Lung And Liver Disease	Cirrhosis, Hepatomegaly, Cholestasis, Elevated circulating alanine aminotransferase concentration...	OMIM:615486
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome	Blue sclerae, Peripapillary atrophy	ORPHA:536467
Neurodevelopmental Disorder With Seizures, Spasticity, And Complete Or Partial Agenesis Of The Corpus Callosum	Blue sclerae	OMIM:620250
Autosomal Recessive Cutis Laxa Type 2A	Blue sclerae	ORPHA:357058
Ehlers-Danlos Syndrome, Musculocontractural Type, 1	Retinal detachment, Blue sclerae	OMIM:601776
Melas	Optic atrophy, Brain atrophy, Cerebral cortical atrophy, Vitiligo, Pigmentary retinopathy	ORPHA:550
Brittle Cornea Syndrome 1	Blue sclerae, Red hair	OMIM:229200
Spondylometaphyseal Dysplasia, Pagnamenta Type	Blue sclerae	OMIM:619638
Spondylocarpotarsal Synostosis Syndrome	Abnormality of retinal pigmentation	OMIM:272460
Cockayne Syndrome A	Optic atrophy, Cerebral atrophy, Decreased nerve conduction velocity, Retinal atrophy, Abnormal a...	OMIM:216400
Osteogenesis Imperfecta, Type Xv	Blue sclerae	OMIM:615220
Immunodeficiency 47	Cirrhosis, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Accessory splee...	OMIM:300972
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency	Hypertriglyceridemia, Abnormal circulating lipid concentration, Decreased HDL cholesterol concent...	ORPHA:247598
Khan-Khan-Katsanis Syndrome	Pigmentary retinopathy	OMIM:618460
Osteogenesis Imperfecta, Type Vi	Blue sclerae, Elevated circulating deoxypyridinoline concentration	OMIM:613982
Primary Sclerosing Cholangitis	Cirrhosis, Jaundice, Elevated circulating hepatic transaminase concentration, Abnormal biliary tr...	ORPHA:171
Mucopolysaccharidosis Type 3	Optic atrophy, Central nervous system degeneration, Retinal degeneration, Rod-cone dystrophy, Pig...	ORPHA:581
Mucopolysaccharidosis Type 2, Severe Form	Optic atrophy, Retinopathy, Abnormal foveal morphology, Papilledema, Abnormality of retinal pigme...	ORPHA:217085
Mucopolysaccharidosis Type 2, Attenuated Form	Optic atrophy, Retinopathy, Abnormal foveal morphology, Papilledema, Abnormality of retinal pigme...	ORPHA:217093
Combined Oxidative Phosphorylation Deficiency 55	Hypophosphatemic rickets, Elevated circulating creatine kinase concentration, Blue sclerae, Hypom...	OMIM:619743
Spondylodysplastic Ehlers-Danlos Syndrome	Optic nerve hypoplasia, Blue sclerae, Optic disc coloboma	ORPHA:536471
Marshall-Smith Syndrome	Cerebral atrophy, Optic nerve hypoplasia, Blue sclerae, Melanocytic nevus	OMIM:602535
Cancer-Associated Retinopathy	Optic atrophy, Granular macular appearance, Retinal atrophy, Optic disc pallor, Diffuse cerebella...	ORPHA:71505
Linear Skin Defects With Multiple Congenital Anomalies 1	Pigmentary retinopathy	OMIM:309801
Wiedemann-Steiner Syndrome	Blue sclerae	OMIM:605130
Sickle Cell Disease	Jaundice, Hepatomegaly, Cholelithiasis, Splenic infarction, Splenomegaly, Cardiomegaly	OMIM:603903
Pearson Syndrome	Hypokalemia, Hyperpigmentation of the skin, Hypocalcemia, Hyperalaninemia, Cafe-au-lait spot, Bon...	ORPHA:699
Peroxisome Biogenesis Disorder 1B	Cirrhosis, Hepatomegaly, Hepatic fibrosis	OMIM:601539
Aprosencephaly And Cerebellar Dysgenesis	Retinal dysplasia	OMIM:601374
Lowry-Maclean Syndrome	Blue sclerae	ORPHA:2409
Cutis Laxa, Autosomal Recessive, Type Iib	Blue sclerae	OMIM:612940
Neurofibromatosis Type 1	Hypopigmented skin patches, Inguinal freckling, Multiple cafe-au-lait spots, Heterochromia iridis...	ORPHA:636
Dentinogenesis Imperfecta	Blue sclerae	ORPHA:49042
Brachycephaly, Trichomegaly, And Developmental Delay	Blue sclerae	OMIM:617412
Osteogenesis Imperfecta, Type Xiii	Blue sclerae	OMIM:614856
Osteogenesis Imperfecta, Type Ii	Blue sclerae	OMIM:166210
Osteogenesis Imperfecta, Type Iii	Blue sclerae	OMIM:259420
Chromosome 9P Deletion Syndrome	Blue sclerae, Fair hair	OMIM:158170
Combined Osteogenesis Imperfecta And Ehlers-Danlos Syndrome 2	Blue sclerae	OMIM:619120
Cole-Carpenter Syndrome 2	Blue sclerae	OMIM:616294
Primary Biliary Cholangitis	Cirrhosis, Jaundice, Hepatomegaly, Hepatocellular carcinoma, Biliary cirrhosis, Portal hypertensi...	ORPHA:186
Alagille Syndrome 1	Hypertriglyceridemia, Chorioretinal atrophy, Hypercholesterolemia, Pigmentary retinopathy	OMIM:118450
Ehlers-Danlos Syndrome, Classic Type, 1	Blue sclerae	OMIM:130000
Cockayne Syndrome B	Optic atrophy, Cerebral atrophy, Decreased nerve conduction velocity, Abnormal auditory evoked po...	OMIM:133540
Silver-Russell Syndrome	Cafe-au-lait spot, Blue sclerae	ORPHA:813
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome	Cerebral cortical atrophy, Blue sclerae	ORPHA:488627
Combined Osteogenesis Imperfecta And Ehlers-Danlos Syndrome 1	Blue sclerae	OMIM:619115
Hyperlipoproteinemia, Type Id	Hepatomegaly, Pancreatitis, Splenomegaly, Recurrent pancreatitis	OMIM:615947
Ehlers-Danlos Syndrome, Periodontal Type, 1	Blue sclerae, Pretibial hyperpigmentation	OMIM:130080
Osteootohepatoenteric Syndrome	Blue sclerae, Increased serum bile acid concentration, Hypokalemia	OMIM:619377
Lipodystrophy, Familial Partial, Type 7	Hypertriglyceridemia, Hypercholesterolemia, Orthostatic hypotension, Pigmentary retinopathy	OMIM:606721
Atypical Werner Syndrome	Premature graying of hair, Hypertriglyceridemia, White forelock, Abnormality of retinal pigmentat...	ORPHA:79474
Saul-Wilson Syndrome	Blue sclerae	OMIM:618150
Goldberg-Shprintzen Syndrome	Blue sclerae, Aganglionic megacolon	OMIM:609460
Pycnodysostosis	Blue sclerae	ORPHA:763
Congenital Disorder Of Glycosylation, Type It	Blue sclerae, Elevated circulating creatine kinase concentration	OMIM:614921
Opsismodysplasia	Blue sclerae	ORPHA:2746
Desbuquois Dysplasia 2	Blue sclerae	OMIM:615777
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome	Optic atrophy, Global brain atrophy, Optic nerve hypoplasia, Secretory IgA deficiency, Decreased ...	ORPHA:500150
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects	Blue sclerae	OMIM:245600
Brittle Cornea Syndrome 2	Blue sclerae	OMIM:614170
Vertebral Hypersegmentation And Orofacial Anomalies	Blue sclerae	OMIM:619122
Osteogenesis Imperfecta, Type Xviii	Blue sclerae	OMIM:617952
Osteogenesis Imperfecta, Type Xi	Blue sclerae	OMIM:610968
Wiedemann-Rautenstrauch Syndrome	Optic atrophy, Hypertriglyceridemia, Optic disc hypoplasia, Blue sclerae, Pigmentary retinopathy	ORPHA:3455
Kabuki Syndrome 2	Blue sclerae	OMIM:300867
Cutis Laxa, Autosomal Recessive, Type Iiib	Blue sclerae	OMIM:614438
Osteogenesis Imperfecta, Type Xvi	Blue sclerae	OMIM:616229
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2	Blue sclerae	OMIM:615349
Ehlers-Danlos Syndrome, Dermatosparaxis Type	Blue sclerae	OMIM:225410
Peripheral Neuropathy With Variable Spasticity, Exercise Intolerance, And Developmental Delay	Brain atrophy, Blue sclerae, Elevated hemoglobin A1c	OMIM:616539
Cole-Carpenter Syndrome	Blue sclerae	ORPHA:2050
Osteogenesis Imperfecta, Type Xx	Blue sclerae	OMIM:618644
Histidinemia	Hyperactivity	ORPHA:2157
Hardikar Syndrome	Hyperbilirubinemia, Pigmentary retinopathy	OMIM:301068
8P Inverted Duplication/Deletion Syndrome	Blue sclerae	ORPHA:96092
Proteus Syndrome	Retinal hamartoma, Irregular hyperpigmentation, Retinal nonattachment, Multiple cafe-au-lait spot...	ORPHA:744
Viss Syndrome	Retinal detachment, Increased circulating IgG level, Increased circulating IgE level, Blue sclera...	OMIM:619472
Otofaciocervical Syndrome 2, With T-Cell Deficiency	Blue sclerae	OMIM:615560
Loeys-Dietz Syndrome 5	Blue sclerae	OMIM:615582
Cystic Fibrosis	Cirrhosis, Hepatomegaly, Pancreatitis, Biliary cirrhosis, Hepatosplenomegaly, Exocrine pancreatic...	OMIM:219700
Osteogenesis Imperfecta, Type X	Blue sclerae	OMIM:613848
Robinow Syndrome, Autosomal Dominant 3	Blue sclerae	OMIM:616894
Trisomy 8P	Blue sclerae, Heterochromia iridis	ORPHA:264450
Chronic Visceral Acid Sphingomyelinase Deficiency	Hypertriglyceridemia, Abnormal circulating lipid concentration, Decreased HDL cholesterol concent...	ORPHA:77293
Osteogenesis Imperfecta, Type Iv	Blue sclerae	OMIM:166220
Cleft Palate, Psychomotor Retardation, And Distinctive Facial Features	Blue sclerae	OMIM:616728
Severe Microbrachycephaly-Intellectual Disability-Athetoid Cerebral Palsy Syndrome	Blue sclerae	ORPHA:1236
Autosomal Recessive Robinow Syndrome	Blue sclerae	ORPHA:1507
Osteogenesis Imperfecta, Type I	Blue sclerae	OMIM:166200
Kabuki Syndrome	Cerebral cortical atrophy, Blue sclerae	ORPHA:2322
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2	Blue sclerae	OMIM:614557
Frontometaphyseal Dysplasia 2	Blue sclerae	OMIM:617137
Neonatal Marfan Syndrome	Blue sclerae	ORPHA:284979
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies	Hypocalcemia, Blue sclerae, Hypomagnesemia, Few cafe-au-lait spots, Congenital Horner syndrome	OMIM:619503
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures	Blue sclerae	OMIM:271640
Autosomal Dominant Robinow Syndrome	Blue sclerae	ORPHA:3107
Kyphoscoliotic Ehlers-Danlos Syndrome	Blue sclerae	ORPHA:536545
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 1	Blue sclerae	OMIM:130070
Osteogenesis Imperfecta	Blue sclerae	ORPHA:666
Roberts Syndrome	Blue sclerae	ORPHA:3103
Palatal Anomalies-Widely Spaced Teeth-Facial Dysmorphism-Developmental Delay Syndrome	Blue sclerae	ORPHA:477993
Wiedemann-Rautenstrauch Syndrome	Hypertriglyceridemia, Blue sclerae	OMIM:264090
Fibromuscular Dysplasia, Multifocal	Blue sclerae	OMIM:619329
Carpenter Syndrome 2	Blue sclerae	OMIM:614976
Cardiospondylocarpofacial Syndrome	Blue sclerae	OMIM:157800
Kabuki Syndrome 1	Cafe-au-lait spot, Blue sclerae	OMIM:147920
Loeys-Dietz Syndrome 1	Blue sclerae	OMIM:609192
Loeys-Dietz Syndrome 2	Blue sclerae	OMIM:610168
Osteogenesis Imperfecta, Type Vii	Blue sclerae	OMIM:610682
Wrinkly Skin Syndrome	Blue sclerae	OMIM:278250
Loeys-Dietz Syndrome	Blue sclerae	ORPHA:60030
Loeys-Dietz Syndrome 3	Blue sclerae	OMIM:613795
Vascular Ehlers-Danlos Syndrome	Abnormality of skin pigmentation, Blue sclerae, Hypokalemia, Melanocytic nevus	ORPHA:286
Roberts-Sc Phocomelia Syndrome	Cafe-au-lait spot, Blue sclerae	OMIM:268300

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 Cyp4v3

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

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Cyp4v3.

There are 2 publications which use IMPC produced mice or data.

Title	Journal	IMPC Allele	PubMed ID
The Functions of Cytochrome P450 ω-hydroxylases and the Associated Eicosanoids in Inflammation-Related Diseases.	Frontiers in pharmacology (September 2021)	Cyp4v3^em1(IMPC)Mbp Cyp4v3^{tm1(KOMP)Vlcg}	PMC8476763
Generation and characterization of a murine model of Bietti crystalline dystrophy.	Investigative ophthalmology & visual science (August 2014)	Cyp4v3^{tm1(KOMP)Vlcg}	PMC4160072

Order Mouse and ES Cells

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

MGI Allele	Allele Type	Produced
Cyp4v3^{tm1(KOMP)Vlcg}	Reporter-tagged deletion allele (with selection cassette)	ES Cells
Cyp4v3^em1(IMPC)Mbp	Exon Deletion	Mice, Tissue
Cyp4v3^{tm44867(L1L2_st0)}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors

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: Cyp4v3 MGI:2142763

Gene Summary

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Phenotypes

lacZ Expression

Associated Images

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Human diseases caused by Cyp4v3 mutations

Histopathology

IMPC related publications

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Access Data Release 21.0 Data