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Gene: Oat MGI:97394

Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:

ornithine aminotransferase

Synonyms:

rhg

Order Alleles

IMPC Data Collections

No Body Weight Data
No Embryo Imaging Data
No Viability Data

IMPC Phenotype Summary

Significant

Not Significant

Not tested

View all our phenotype data below

Phenotypes

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

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by Oat 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 Oat (2 diseases)
Human diseases predicted to be associated with Oat (1258 diseases)

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

Disease	Similarity of phenotypes	Matching phenotypes	Source
Gyrate Atrophy Of Choroid And Retina		Cataract, Chorioretinal degeneration, Chorioretinal hyperpigmentation, Abnormal hair morphology, ...	ORPHA:414
Gyrate Atrophy Of Choroid And Retina		Posterior subcapsular cataract, Foveoschisis, Chorioretinal atrophy, Hyperornithinemia, Macular t...	OMIM:258870

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

Disease	Matching phenotypes	Source
Retinal Dysplasia, Primary	Retinal dysplasia, Falciform retinal fold	OMIM:312550
Stargardt Disease 1	Macular degeneration, Retinitis pigmentosa inversa, Bull's eye maculopathy	OMIM:248200
Choroidal Dystrophy, Central Areolar, 1	Pigmentary retinopathy, Chorioretinal atrophy, Choriocapillaris atrophy	OMIM:215500
Retinal Dystrophy, Reticular Pigmentary, Of Posterior Pole	Drusen, Reticular pigmentary degeneration, Retinal dystrophy	OMIM:267800
Macular Degeneration, Age-Related, 13	Drusen, Macular degeneration, Choroidal neovascularization, Macular scar	OMIM:615439
Retinitis Pigmentosa 48	Macular degeneration, Rod-cone dystrophy	OMIM:613827
Retinitis Pigmentosa 36	Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Rod-cone dystro...	OMIM:610599
Doyne Honeycomb Retinal Dystrophy	Reticular pigmentary degeneration, Retinal dystrophy	OMIM:126600
Cone-Rod Dystrophy 7	Cone/cone-rod dystrophy, Bull's eye maculopathy, Macular atrophy	OMIM:603649
Night Blindness, Congenital Stationary, Type 1D	Congenital stationary night blindness, Pigmentary retinopathy, Macular atrophy, Attenuation of re...	OMIM:613830
Macular Dystrophy, Patterned, 3	Rod-cone dystrophy, Choroidal neovascularization, Macular atrophy	OMIM:617111
Retinal Degeneration And Epilepsy	Retinal degeneration	OMIM:267740
Macular Dystrophy, Retinal, 2	Macular dystrophy, Perifoveal ring of hyperautofluorescence, Granular macular appearance, Retinal...	OMIM:608051
Macular Degeneration, Early-Onset	Macular degeneration, Choroidal neovascularization	OMIM:616118
Atrophia Maculosa Varioliformis Cutis, Familial	Macular atrophy	OMIM:601341
Macular Dystrophy, Retinal, 1, North Carolina Type	Drusen, Macular dystrophy, Abnormality of macular pigmentation, Peripheral retinal atrophy	OMIM:136550
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
Stargardt Disease 4	Macular degeneration, Retinal flecks	OMIM:603786
Stargardt Disease 3	Macular dystrophy, Macular atrophy, Macular flecks	OMIM:600110
Leber Congenital Amaurosis 13	Optic disc pallor, Bone spicule pigmentation of the retina, Retinal dystrophy, Attenuation of ret...	OMIM:612712
Exudative Vitreoretinopathy 7	Retinal detachment, Exudative vitreoretinopathy, Retinal hole, Retinal fold, Retinal degeneration	OMIM:617572
Hyperreflexia	Abnormality of retinal pigmentation	OMIM:145290
Leber Congenital Amaurosis 19	Optic disc pallor, Retinal degeneration, Attenuation of retinal blood vessels	OMIM:618513
Late-Onset Retinal Degeneration	Sub-RPE deposits, Choroidal neovascularization, Chorioretinal degeneration, Retinopathy, Retinal ...	OMIM:605670
Macular Degeneration, Atrophic, X-Linked	Macular degeneration	OMIM:300834
Hyperleucine-Isoleucinemia	Retinal degeneration	OMIM:238340
Grouped Pigmentation Of The Retina	Abnormality of retinal pigmentation	OMIM:233800
Macular Dystrophy, Vitelliform, 2	Macular dystrophy, Cystoid macular degeneration, Subretinal fluid	OMIM:153700
Homocarnosinosis	Abnormality of skin pigmentation, Abnormality of retinal pigmentation, Carnosinuria	OMIM:236130
X-Linked Retinal Dysplasia	Abnormal retinal vascular morphology, Abnormality of retinal pigmentation, Retinal dysplasia	ORPHA:1852
Retinoschisis 1, X-Linked, Juvenile	Retinal detachment, Retinal atrophy, Retinal pigment epithelial atrophy, Mizuo phenomenon, Macula...	OMIM:312700
Hyperlysinuria With Hyperammonemia	Dibasicaminoaciduria, Hyperammonemia, Hyperlysinuria, Lethargy, Hyperlysinemia	OMIM:238750
Retinopathy, Pericentral Pigmentary, Dominant	Bone spicule pigmentation of the retina, Retinal atrophy, Retinal dystrophy, Pigmentary retinopat...	OMIM:180210
Retinitis Pigmentosa 31	Rod-cone dystrophy, Retinal pigment epithelial atrophy, Attenuation of retinal blood vessels	OMIM:609923
Liberfarb Syndrome	Optic disc pallor, Bone spicule pigmentation of the retina, Retinal degeneration, Retinal pigment...	OMIM:618889
Sorsby Pseudoinflammatory Fundus Dystrophy	Retinal atrophy, Choroidal neovascularization, Retinal pigment epithelial atrophy, Macular dystro...	ORPHA:59181
Macular Dystrophy, Retinal, 3	Macular drusen, Retinal pigment epithelial atrophy	OMIM:608850
Cleft Lip-Retinopathy Syndrome	Abnormality of retinal pigmentation, Retinopathy	ORPHA:1995
Ceroid Lipofuscinosis, Neuronal, 6A	Retinal degeneration	OMIM:601780
Retinitis Pigmentosa Inversa With Deafness	Rod-cone dystrophy, Retinitis pigmentosa inversa	OMIM:268010
Retinal Cone Dystrophy 1	Cone/cone-rod dystrophy, Bull's eye maculopathy, Retinal degeneration	OMIM:180020
Cone-Rod Dystrophy 22	Retinal pigment epithelial atrophy, Bull's eye maculopathy, Hyperautofluorescent macular lesion, ...	OMIM:619531
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies	Retinal degeneration	OMIM:251700
Bardet-Biedl Syndrome 13	Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of retinal blood vessels	OMIM:615990
Retinitis Pigmentosa 32	Optic disc pallor, Bone spicule pigmentation of the retina, Pigmentary retinopathy, Photoreceptor...	OMIM:609913
Retinitis Pigmentosa 33	Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, R...	OMIM:610359
Retinitis Pigmentosa 39	Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of retinal blood vessels	OMIM:613809
Central Areolar Choroidal Dystrophy	Macular atrophy, Foveal photoreceptor outer segment loss on macular OCT, Drusen, Retinal pigment ...	ORPHA:75377
Choroideremia	Bone spicule pigmentation of the retina, Chorioretinal degeneration, Retinal pigment epithelial m...	OMIM:303100
Persistent Placoid Maculopathy	Hypoplasia of the fovea, Retinal pigment epithelial mottling, Choroidal neovascularization, Abnor...	ORPHA:97341
Charcot-Marie-Tooth Disease, Demyelinating, Type 1H	Macular degeneration	OMIM:619764
Night Blindness, Congenital Stationary, Autosomal Dominant 1	Congenital stationary night blindness, Bone spicule pigmentation of the retina	OMIM:610445
Cone-Rod Dystrophy 11	Cone/cone-rod dystrophy, Macular degeneration, Bull's eye maculopathy, Macular atrophy	OMIM:610381
Argininosuccinic Aciduria	Hyperglutaminemia, Hyperammonemia, Aminoaciduria, Oroticaciduria, Hypoargininemia	ORPHA:23
Carbamoyl-Phosphate Synthetase 1 Deficiency	Hypoargininemia, Aminoaciduria, Hyperammonemia, Episodic ammonia intoxication	ORPHA:147
Retinitis Pigmentosa 70	Optic disc pallor, Macular degeneration, Rod-cone dystrophy, Retinal degeneration, Attenuation of...	OMIM:615922
Nephronophthisis	Abnormality of retinal pigmentation	ORPHA:655
Best Vitelliform Macular Dystrophy	Choroideremia, Cystoid macular degeneration	ORPHA:1243
Familial Drusen	Abnormality of retinal pigmentation, Macular drusen, Peripapillary chorioretinal atrophy, Choroid...	ORPHA:75376
Leber Congenital Amaurosis With Early-Onset Deafness	Retinal pigment epithelial mottling, Peripapillary atrophy, Retinal degeneration	OMIM:617879
Retinitis Pigmentosa 81	Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, A...	OMIM:617871
Stargardt Disease	Retinal pigment epithelial atrophy, Retinal thinning, Abnormal foveal morphology, Retinal pigment...	ORPHA:827
Retinitis Pigmentosa 68	Rod-cone dystrophy, Bone spicule pigmentation of the retina, Retinal atrophy	OMIM:615725
Peripheral Cone Dystrophy	Cone/cone-rod dystrophy, Optic disc pallor, Optic atrophy, Peripheral retinal degeneration	OMIM:609021
Bothnia Retinal Dystrophy	Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, Retinitis, Abnormal ...	ORPHA:85128
Retinitis Pigmentosa 30	Bone spicule pigmentation of the retina, Optic atrophy, Chorioretinal atrophy, Rod-cone dystrophy...	OMIM:607921
Cone-Rod Dystrophy 5	Cone/cone-rod dystrophy, Retinal pigment epithelial mottling, Macular degeneration	OMIM:600977
Muscular Atrophy-Ataxia-Retinitis Pigmentosa-Diabetes Mellitus Syndrome	Abnormality of retinal pigmentation	ORPHA:2579
Nanophthalmos	Abnormality of retinal pigmentation, Abnormal choroid morphology	ORPHA:35612
Senior-Loken Syndrome 7	Retinal degeneration	OMIM:613615
Retinitis Pigmentosa 57	Optic disc pallor, Bone spicule pigmentation of the retina, Absent foveal reflex, Rod-cone dystro...	OMIM:613582
Macular Degeneration, Age-Related, 1	Macular drusen, Choroidal neovascularization, Geographic atrophy, Macular hemorrhage, Macular deg...	OMIM:603075
Retinitis Pigmentosa 47	Pigmentary retinopathy, Rod-cone dystrophy, Chorioretinal atrophy	OMIM:613758
Usher Syndrome, Type Iv	Hyperautofluorescent macular lesion, Bone spicule pigmentation of the retina, Retinal atrophy, Re...	OMIM:618144
Retinitis Pigmentosa 11	Optic disc pallor, Bone spicule pigmentation of the retina, Macular atrophy, Macular edema, Macul...	OMIM:600138
Argininemia	Diaminoaciduria, Hyperammonemia	ORPHA:90
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10	Retinal dysplasia	OMIM:615041
Saccharopinuria	Citrullinuria, Hypercystinemia, Hyperammonemia, Cystinuria, Hyperlysinuria, Abnormality of circul...	ORPHA:3124
Alopecia Areata 2	Alopecia of scalp, Patchy alopecia, Alopecia totalis, Alopecia universalis	OMIM:610753
Reticular Dystrophy Of Retinal Pigment Epithelium	Abnormality of retinal pigmentation, Pigmentary retinopathy	OMIM:179840
Wagner Vitreoretinopathy	Retinal pigment epithelial atrophy, Optically empty vitreous, Optic atrophy, Chorioretinal atroph...	OMIM:143200
Retinitis Pigmentosa 13	Bone spicule pigmentation of the retina, Optic disc drusen, Perifoveal ring of hyperautofluoresce...	OMIM:600059
Bothnia Retinal Dystrophy	Macular degeneration, Retinal dystrophy	OMIM:607475
Hypotrichosis 1	Sparse eyelashes, Sparse axillary hair, Sparse pubic hair, Sparse eyebrow, Abnormality of the nai...	OMIM:605389
Ataxia-Tapetoretinal Degeneration Syndrome	Pigmentary retinopathy, Rod-cone dystrophy	ORPHA:1178
Retinitis Pigmentosa 4	Bone spicule pigmentation of the retina, Retinal atrophy, Pigmentary retinopathy, Rod-cone dystro...	OMIM:613731
Progressive Bifocal Chorioretinal Atrophy	Pigmentary retinopathy, Chorioretinal dystrophy, Macular atrophy	ORPHA:75373
Hypotrichosis Simplex	Sparse scalp hair, Alopecia, Sparse eyelashes, Sparse eyebrow, Sparse hair, Sparse body hair	ORPHA:55654
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome	Abnormality of retinal pigmentation, Optic atrophy	ORPHA:1574
Retinitis Pigmentosa 90	Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, Hyperautofluorescent...	OMIM:619007
Hypotrichosis 9	Sparse scalp hair, Sparse body hair	OMIM:614237
Retinitis Pigmentosa 96	Bone spicule pigmentation of the retina, Rod-cone dystrophy, Retinal thinning	OMIM:620228
Bestrophinopathy, Autosomal Recessive	Retinal pigment epithelial atrophy, Retinal flecks	OMIM:611809
Retinitis Pigmentosa 54	Fundus atrophy, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of retin...	OMIM:613428
Spinocerebellar Ataxia, Autosomal Recessive 12	Optic atrophy, Retinal degeneration	OMIM:614322
Progressive Cone Dystrophy	Abnormality of retinal pigmentation	ORPHA:1871
Ceroid Lipofuscinosis, Neuronal, 2	Retinal degeneration	OMIM:204500
Hypotrichosis 4	Sparse scalp hair, Alopecia, Sparse eyelashes, Sparse eyebrow, Uncombable hair, Sparse body hair	OMIM:146550
Retinitis Pigmentosa 62	Optic disc pallor, Bone spicule pigmentation of the retina, Bull's eye maculopathy, Rod-cone dyst...	OMIM:614181
Cerebellar Hypoplasia-Tapetoretinal Degeneration Syndrome	Abnormality of retinal pigmentation, Optic atrophy	ORPHA:2246
Retinitis Pigmentosa 95	Optic disc pallor, Bone spicule pigmentation of the retina, Perifoveal ring of hyperautofluoresce...	OMIM:620102
Retinitis Pigmentosa 38	Optic disc pallor, Peripheral retinal atrophy, Macular atrophy, Rod-cone dystrophy	OMIM:613862
Hypotrichosis 11	Sparse or absent eyelashes, Alopecia universalis, Absent axillary hair, Sparse hair, Aplasia/Hypo...	OMIM:615059
Retinitis Pigmentosa 61	Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of retinal blood vessels	OMIM:614180
Retinitis Pigmentosa 88	Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Cystoid macular...	OMIM:618826
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency	Pigmentary retinopathy	OMIM:609016
Retinitis Pigmentosa 40	Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of retinal blood vessels	OMIM:613801
Retinitis Pigmentosa 76	Bone spicule pigmentation of the retina, Retinal thinning, Hyperautofluorescent macular lesion, P...	OMIM:617123
Ophthalmoplegia, External, And Myopia	Retinal degeneration, Chorioretinal degeneration	OMIM:311000
Cone-Rod Dystrophy 13	Cone/cone-rod dystrophy, Macular degeneration	OMIM:608194
Cone-Rod Dystrophy 24	Cone/cone-rod dystrophy, Macular drusen, Macular atrophy, Pigmentary retinopathy, Macular degener...	OMIM:620342
Retinitis Pigmentosa 9	Bone spicule pigmentation of the retina, Rod-cone dystrophy, Macular atrophy, Macular edema	OMIM:180104
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma	Cystoid macular degeneration, Macular atrophy, Retinal degeneration	OMIM:267760
Retinitis Pigmentosa 80	Bone spicule pigmentation of the retina, Macular atrophy, Attenuation of retinal blood vessels	OMIM:617781
Blue Cone Monochromatism	Abnormality of retinal pigmentation	ORPHA:16
Argininosuccinic Aciduria	Hyperglutaminemia, Hyperammonemia, Episodic ammonia intoxication, Aminoaciduria, Lethargy, Orotic...	OMIM:207900
Pigmented Paravenous Chorioretinal Atrophy	Bone spicule pigmentation of the retina, Paravenous chorioretinal atrophy, Vitreoretinopathy	OMIM:172870
Alpha-Aminoadipic And Alpha-Ketoadipic Aciduria	Alpha-aminoadipic aciduria, 2-hydroxyadipic aciduria	OMIM:204750
X-Linked Neurodegenerative Syndrome, Bertini Type	Macular degeneration	ORPHA:85334
Retinitis Pigmentosa 73	Macular crystals, Optic disc pallor, Bone spicule pigmentation of the retina, Retinal atrophy, Ge...	OMIM:616544
Glycine Encephalopathy 1	Lethargy, Hyperglycinuria, Hyperglycinemia, Death in infancy	OMIM:605899
Alopecia, Congenital	Sparse hair, Alopecia	OMIM:300042
Retinitis Pigmentosa 19	Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, R...	OMIM:601718
Exudative Vitreoretinopathy 3	Retinal detachment, Retinal exudate, Exudative vitreoretinopathy, Retinal hole, Retinal fold	OMIM:605750
Retinitis Pigmentosa 84	Bone spicule pigmentation of the retina, Macular atrophy, Macular coloboma, Rod-cone dystrophy, A...	OMIM:618220
Macular Dystrophy, Vitelliform, 3	Choroidal neovascularization, Macular atrophy, Drusen, Vitelliform-like macular lesions, Macular ...	OMIM:608161
Cone Dystrophy 3	Cone/cone-rod dystrophy, Macular atrophy	OMIM:602093
Retinitis Pigmentosa 27	Bone spicule pigmentation of the retina, Peripapillary chorioretinal atrophy, Macular atrophy, Ch...	OMIM:613750
Cone-Rod Dystrophy 16	Cone/cone-rod dystrophy, Optic disc pallor, Bone spicule pigmentation of the retina, Beaten bronz...	OMIM:614500
Oculorenocerebellar Syndrome	Retinal degeneration	OMIM:257970
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome	Decreased nerve conduction velocity, Chorioretinal atrophy, Hyperammonemia, Hyperornithinemia, Le...	OMIM:238970
Alopecia Totalis	Alopecia, Alopecia of scalp	ORPHA:700
Retinitis Pigmentosa 17	Bone spicule pigmentation of the retina, Rod-cone dystrophy	OMIM:600852
Retinitis Pigmentosa 7	Pigmentary retinopathy, Rod-cone dystrophy, Chorioretinal atrophy, Attenuation of retinal blood v...	OMIM:608133
Alopecia-Intellectual Disability Syndrome 1	Alopecia, Alopecia universalis	OMIM:203650
Retinitis Pigmentosa 28	Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy	OMIM:606068
Vitreoretinopathy With Phalangeal Epiphyseal Dysplasia	Rhegmatogenous retinal detachment, Lattice retinal degeneration	OMIM:619248
Retinal Dystrophy And Obesity	Retinal detachment, Retinal pigment epithelial atrophy, Retinal dystrophy, Retinal dots, Peripapi...	OMIM:616188
Retinitis Pigmentosa 87 With Choroidal Involvement	Pigmentary retinopathy, Bone spicule pigmentation of the retina, Chorioretinal atrophy, Nummular ...	OMIM:618697
Cone Rod Dystrophy	Abnormality of retinal pigmentation	ORPHA:1872
Ceroid Lipofuscinosis, Neuronal, 7	Retinopathy, Pigmentary retinopathy, Optic atrophy	OMIM:610951
Retinitis Pigmentosa 69	Pigmentary retinopathy, Perifoveal hypoautofluorescence, Rod-cone dystrophy	OMIM:615780
Lodder-Merla Syndrome, Type 1, With Impaired Intellectual Development And Cardiac Arrhythmia	Retinal degeneration	OMIM:617173
Cone-Rod Dystrophy, X-Linked, 1	Retinal pigment epithelial mottling, Retinal pigment epithelial atrophy, Hypoautofluorescent macu...	OMIM:304020
Oliver-Mcfarlane Syndrome	Pigmentary retinopathy, Central heterochromia, Retinal degeneration	OMIM:275400
Neuropathy, Ataxia, And Retinitis Pigmentosa	Retinal pigment epithelial mottling, Rod-cone dystrophy, Retinopathy	OMIM:551500
Microphthalmia, Isolated 5	Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, F...	OMIM:611040
Macular Degeneration, Age-Related, 3	Drusen, Macular degeneration, Decreased nerve conduction velocity, Choroidal neovascularization	OMIM:608895
Intellectual Developmental Disorder And Retinitis Pigmentosa	Abnormal flash visual evoked potentials, Optic disc pallor, Bone spicule pigmentation of the reti...	OMIM:618195
Central Retinal Vein Occlusion	Papilledema, Epiretinal membrane, Intraretinal hemorrhage, Macular edema, Macular degeneration, P...	ORPHA:411527
Bietti Crystalline Dystrophy	Retinal pigment epithelial atrophy, Retinal thinning, Chorioretinal degeneration, Retinal pigment...	ORPHA:41751
Ornithine Transcarbamylase Deficiency	Aminoaciduria, Hyperammonemia	ORPHA:664
Retinitis Pigmentosa 79	Optic disc pallor, Bone spicule pigmentation of the retina, Macular atrophy, Attenuation of retin...	OMIM:617460
Achromatopsia 7	Hypoplasia of the fovea, Absent foveal reflex, Macular atrophy	OMIM:616517
Retinitis Pigmentosa 6	Pigmentary retinopathy, Rod-cone dystrophy, Chorioretinal degeneration	OMIM:312612
Retinal Dystrophy, Juvenile Cataracts, And Short Stature Syndrome	Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, Retinal dystrophy, R...	OMIM:616108
Retinitis Pigmentosa 86	Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, N...	OMIM:618613
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1	Retinal detachment, Abnormality of retinal pigmentation, Optic disc pallor, Retinal dystrophy, Ch...	OMIM:251270
Achromatopsia	Hypoplasia of the fovea, Retinal pigment epithelial atrophy, Retinal pigment epithelial mottling,...	ORPHA:49382
Retinopathy, Pericentral Pigmentary, Autosomal Recessive	Pigmentary retinopathy	OMIM:268060
Argininemia	Diaminoaciduria, Oroticaciduria, Hyperargininemia, Hyperammonemia	OMIM:207800
Hereditary Orotic Aciduria	Aminoaciduria, Orotic acid crystalluria, Abnormality of the ureter, Oroticaciduria	ORPHA:30
Cone-Rod Dystrophy 15	Rod-cone dystrophy, Retinal pigment epithelial atrophy, Attenuation of retinal blood vessels	OMIM:613660
Myopia, High, With Cataract And Vitreoretinal Degeneration	Retinal detachment, Vitreous floaters, Peripheral vitreoretinal degeneration, Lattice retinal deg...	OMIM:614292
Griscelli Syndrome, Type 3	Silver-gray hair, Large clumps of pigment irregularly distributed along hair shaft, White eyelashes	OMIM:609227
Nephronophthisis 14	Retinal degeneration	OMIM:614844
Retinitis Pigmentosa 77	Bone spicule pigmentation of the retina, Retinal atrophy, Rod-cone dystrophy, Cystoid macular ede...	OMIM:617304
Combined Oxidative Phosphorylation Deficiency 52	Death in infancy, Renal insufficiency, Elevated circulating creatine kinase concentration, Hypera...	OMIM:619386
Intellectual Developmental Disorder With Poor Growth And With Or Without Seizures Or Ataxia	Increased LDL cholesterol concentration, Fair hair, Developmental cataract	OMIM:618808
Ceroid Lipofuscinosis, Neuronal, 3	Macular degeneration, Rod-cone dystrophy, Optic atrophy, Retinal degeneration	OMIM:204200
Nephronophthisis 15	Retinal degeneration	OMIM:614845
Griscelli Syndrome, Type 1	Accumulation of melanosomes in melanocytes, White eyelashes, White eyebrow, Silver-gray hair, Lar...	OMIM:214450
Citrullinemia, Classic	Hyperglutaminemia, Hyperammonemia, Episodic ammonia intoxication, Elevated plasma citrulline, Let...	OMIM:215700
Chorioretinal Atrophy, Progressive Bifocal	Retinal detachment, Chorioretinal dystrophy, Chorioretinal atrophy	OMIM:600790
Retinal Cone Dystrophy 4	Cone/cone-rod dystrophy, Retinal pigment epithelial mottling	OMIM:610478
Fundus Dystrophy, Pseudoinflammatory, Recessive Form	Retinal hemorrhage, Central retinal exudate, Peripheral retinal degeneration	OMIM:264420
Tietz Syndrome	Hypopigmentation of hair, White eyebrow, Abnormality of skin pigmentation, Abnormal anterior cham...	ORPHA:42665
Choroideremia	Abnormality of retinal pigmentation	ORPHA:180
Cone-Rod Dystrophy 21	Retinal dystrophy, Macular atrophy	OMIM:616502
Woolly Hair	Hypopigmentation of hair, Cataract, Slow-growing hair, Abnormal retinal morphology, Brittle hair,...	ORPHA:170
Lysinuric Protein Intolerance	Decreased HDL cholesterol concentration, Tubulointerstitial nephritis, Renal fibrosis, Lethargy, ...	ORPHA:470
Alopecia, Androgenetic, 1	Alopecia	OMIM:109200
Diabetes And Deafness, Maternally Inherited	Pigmentary retinopathy, Retinal degeneration	OMIM:520000
Morm Syndrome	Retinal atrophy, Retinal dystrophy	ORPHA:75858
Ornithine Transcarbamylase Deficiency, Hyperammonemia Due To	Elevated circulating uracil concentration, Hyperglutaminemia, Low plasma citrulline, Hyperammonem...	OMIM:311250
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency	Increased level of hippuric acid in urine, Glutaric aciduria, Hyperammonemia, 3-Methylglutaric ac...	OMIM:246450
Bardet-Biedl Syndrome 4	Rod-cone dystrophy, Retinal degeneration	OMIM:615982
Ceroid Lipofuscinosis, Neuronal, 1	Macular degeneration, Optic atrophy, Retinal degeneration	OMIM:256730
Bardet-Biedl Syndrome 16	Rod-cone dystrophy, Retinal degeneration	OMIM:615993
Short Chain Acyl-Coa Dehydrogenase Deficiency	Elevated circulating acylcarnitine concentration, Optic atrophy, Ethylmalonic aciduria, Increased...	ORPHA:26792
Woolly Hair, Autosomal Recessive 3	Sparse scalp hair, Curly hair, Sparse eyelashes, Fine hair, Sparse hair, Trichorrhexis nodosa	OMIM:616760
Glutathione Synthetase Deficiency	Pigmentary retinopathy, Increased level of L-pyroglutamic acid in urine	OMIM:266130
Retinopathy Of Prematurity	Tractional retinal detachment, Retinal arteriolar tortuosity, Abnormal retinal vascular morpholog...	ORPHA:90050
Iminoglycinuria	Hydroxyprolinemia, Hyperglycinuria, Hyperprolinemia, Hyperglycinemia, Prolinuria, Hydroxyprolinuria	ORPHA:42062
Multiple Mitochondrial Dysfunctions Syndrome 5	Pigmentary retinopathy	OMIM:617613
Renal Failure, Progressive, With Hypertension	Renal insufficiency, Proteinuria, Elevated circulating creatinine concentration, Stage 5 chronic ...	OMIM:161900
Congenital Glaucoma	Retinal detachment	ORPHA:98976
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0	Renal insufficiency, Optic atrophy, Hyperammonemia, Renal tubular dysfunction, Lethargy	ORPHA:289916
Spondylometaphyseal Dysplasia, Axial	Cone/cone-rod dystrophy, Rod-cone dystrophy, Optic atrophy, Retinal degeneration	OMIM:602271
Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome	Pigmentary retinopathy, Retinal degeneration	ORPHA:3363
Birdshot Chorioretinopathy	Retinal detachment, Optic disc pallor, Abnormal chorioretinal morphology, Choroidal neovasculariz...	ORPHA:179
Retinitis Pigmentosa 41	Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Pigmentary reti...	OMIM:612095
Albinism, Oculocutaneous, Type Iv	Hypopigmentation of hair, Albinism, Blue irides, Macular hypoplasia, Hypopigmentation of the fundus	OMIM:606574
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome	Chorioretinal atrophy, Hyperammonemia, Hyperornithinemia, Chorioretinal hypopigmentation, Letharg...	ORPHA:415
Exudative Vitreoretinopathy 5	Retinal exudate, Exudative vitreoretinopathy, Falciform retinal fold, Tractional retinal detachment	OMIM:613310
Spinocerebellar Ataxia, Autosomal Recessive 29	Retinal pigment epithelial mottling, Optic disc pallor	OMIM:619389
Retinitis Pigmentosa 92	Pigmentary retinopathy	OMIM:619614
Autosomal Recessive Complex Spastic Paraplegia Due To Kennedy Pathway Dysfunction	Retinal pigment epithelial mottling, Central retinal vessel vascular tortuosity, Hyporeflective s...	ORPHA:506353
Morning Glory Disc Anomaly	Retinal detachment, Optic disc coloboma, Abnormality of retinal pigmentation	ORPHA:35737
Hyperprolinemia, Type Ii	Hydroxyprolinuria, Hyperglycinuria, Hyperprolinemia, Prolinuria	OMIM:239510
Leber Congenital Amaurosis 1	Fundus atrophy, Optic disc drusen, Pigmentary retinopathy, Hyperthreoninuria, Hyperthreoninemia, ...	OMIM:204000
Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities	Abnormality of skin pigmentation, Rod-cone dystrophy, Cataract	OMIM:300719
Congenital Stationary Night Blindness	Abnormality of retinal pigmentation, Retinal thinning, Congenital stationary night blindness with...	ORPHA:215
Bardet-Biedl Syndrome 2	Rod-cone dystrophy, Retinal degeneration	OMIM:615981
Saccharopinuria	Citrullinuria, Elevated circulating sacchoropine concentration, Histidinuria, Saccharopinuria, Hy...	OMIM:268700
Retinitis Pigmentosa 1	Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of re...	OMIM:180100
Leber Congenital Amaurosis 9	Optic disc pallor, Bone spicule pigmentation of the retina, Macular coloboma, Macular scar, Macul...	OMIM:608553
Retinitis Pigmentosa 58	Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Rod-cone dystro...	OMIM:613617
Retinitis Pigmentosa 10	Optic disc pallor, Bone spicule pigmentation of the retina, Bull's eye maculopathy, Geographic at...	OMIM:180105
Retinitis Pigmentosa 45	Macular degeneration, Bone spicule pigmentation of the retina, Rod-cone dystrophy	OMIM:613767
3-Methylcrotonyl-Coa Carboxylase 2 Deficiency	Acute hyperammonemia, Ketonuria, Hyperglycinuria, Hyperammonemia, Organic aciduria, Hyperleucinem...	OMIM:210210
Retinitis Pigmentosa 50	Retinal detachment, Optic disc pallor, Retinal flecks, Rod-cone dystrophy, Attenuation of retinal...	OMIM:613194
Leber Congenital Amaurosis 8	Macular coloboma, Chorioretinal atrophy, Nummular pigmentation of the fundus, Pigmentary retinopa...	OMIM:613835
Dilution, Pigmentary	Hypopigmentation of hair, Hypopigmentation of the skin, Hypopigmentation of the fundus, Iris hypo...	OMIM:126070
Leber Congenital Amaurosis 2	Optic disc pallor, Fundus atrophy, Absent foveal reflex, Pigmentary retinopathy, Attenuation of r...	OMIM:204100
Bardet-Biedl Syndrome 21	Cone/cone-rod dystrophy, Hypoplasia of the fovea, Retinal atrophy, Retinal thinning, Hyperautoflu...	OMIM:617406
Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To	Elevated urinary 3-hydroxybutyric acid, Ketonuria, Abnormal urine sebacic acid concentration, Hyp...	OMIM:615751
Albinism, Oculocutaneous, Type Iii	Red hair, Partial albinism, Albinism	OMIM:203290
Foveal Hypoplasia-Presenile Cataract Syndrome	Generalized hyperpigmentation, Optic atrophy, Cataract	ORPHA:2253
Leber Congenital Amaurosis 4	Cone/cone-rod dystrophy, Optic disc pallor, Macular atrophy, Attenuation of retinal blood vessels	OMIM:604393
Ophthalmoplegia-Intellectual Disability-Lingua Scrotalis Syndrome	Abnormality of retinal pigmentation, Facial palsy	ORPHA:2743
Homocystinuria-Megaloblastic Anemia, Cble Complementation Type	Methylmalonic acidemia, Hypomethioninemia, Methylmalonic aciduria, Hyperhomocystinemia, Lethargy,...	OMIM:236270
Dihydropyrimidine Dehydrogenase Deficiency	Lethargy, Uraciluria, Optic atrophy	OMIM:274270
Optic Atrophy 5	Optic disc pallor, Abnormality of pattern visual evoked potentials, Optic atrophy	OMIM:610708
Hyperprolinemia Type 1	Nephropathy, Proteinuria, Hyperprolinemia, Prolinuria	ORPHA:419
Iris Pigment Layer, Cleavage Of	Peripheral retinal detachment	OMIM:147610
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 5	Lethargy, 3-Methylglutaconic aciduria, Elevated circulating creatine kinase concentration, Hypera...	OMIM:618120
Lysinuric Protein Intolerance	Hypolysinemia, Increased circulating ferritin concentration, Stage 5 chronic kidney disease, Hype...	OMIM:222700
Hypotaurinemic Retinal Degeneration And Cardiomyopathy	Retinal thinning, Peripheral retinal atrophy, Macular atrophy, Retinal pigment epithelial mottlin...	OMIM:145350
Vitamin B12-Responsive Methylmalonic Acidemia	Lethargy, Renal insufficiency, Hyperammonemia	ORPHA:28
Developmental Delay, Impaired Growth, Dysmorphic Facies, And Axonal Neuropathy	Pigmentary retinopathy	OMIM:619090
Cone-Rod Dystrophy 3	Cone/cone-rod dystrophy, Optic disc pallor, Bull's eye maculopathy, Pigmentary retinopathy, Atten...	OMIM:604116
Retinal Arterial Macroaneurysm With Supravalvular Pulmonic Stenosis	Exudative retinal detachment, Retinal arterial macroaneurysms	OMIM:614224
Glutamate Formiminotransferase Deficiency	Aminoaciduria, Elevated urinary formiminoglutamic acid level, Positive ferric chloride test	OMIM:229100
Isolated Atp Synthase Deficiency	Optic atrophy, Renal hypoplasia, Hyperammonemia, 3-Methylglutaconic aciduria, Hyperalaninemia, Ro...	ORPHA:254913
Vitreoretinal Degeneration, Snowflake Type	Retinal detachment, Snowflake vitreoretinal degeneration, Optically empty vitreous, Retinal dots	OMIM:193230
Multiple Mitochondrial Dysfunctions Syndrome 1	Increased urine alpha-ketoglutarate concentration, Death in infancy, Hyperglycinuria, Lacticacidu...	OMIM:605711
Choroidal Atrophy-Alopecia Syndrome	Abnormality of retinal pigmentation, Abnormal fingernail morphology, Supernumerary nipple, Patchy...	ORPHA:1433
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-	Lethargy, Renal insufficiency, Optic atrophy, Hyperammonemia	ORPHA:79312
Bornholm Eye Disease	Abnormality of retinal pigmentation, Optic nerve hypoplasia	OMIM:300843
Retinitis Pigmentosa 46	Optic disc pallor, Rod-cone dystrophy, Pigmentary retinopathy, Attenuation of retinal blood vessels	OMIM:612572
Retinitis Pigmentosa 12	Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of re...	OMIM:600105
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 4A	Hyperglutamatemia, Low plasma citrulline, Hyperammonemia, Hyperprolinemia, Hyperglycinemia, Hyper...	OMIM:620358
Oguchi Disease	Congenital stationary night blindness, Macular degeneration, Rod-cone dystrophy, Mizuo phenomenon	ORPHA:75382
Microcephaly-Cardiomyopathy Syndrome	Abnormality of retinal pigmentation	ORPHA:2515
Cervical Hypertrichosis With Underlying Kyphoscoliosis	Anterior cervical hypertrichosis, Sacral hypertrichosis, Lumbar hypertrichosis, Thoracic hypertri...	OMIM:117850
Retinal Dystrophy, Iris Coloboma, And Comedogenic Acne Syndrome	Absent foveal reflex, Retinal dystrophy, Peripheral retinal atrophy	OMIM:615147
Dibasic Amino Aciduria I	Dibasicaminoaciduria, Argininuria, Hyperlysinuria, Ornithinuria	OMIM:222690
Methylmalonic Acidemia With Homocystinuria	Lethargy, Retinopathy	ORPHA:26
Retinitis Pigmentosa 2	Bull's eye maculopathy, Chorioretinal degeneration, Fundus atrophy, Pigmentary retinopathy, Rod-c...	OMIM:312600
Alg6-Cdg	Puberty and gonadal disorders, Decreased LDL cholesterol concentration, Increased circulating and...	ORPHA:79320
Irvan Syndrome	Retinal detachment, Vitreous floaters, Optic atrophy, Macular edema, Retinal exudate, Tractional ...	ORPHA:209943
N-Acetylglutamate Synthase Deficiency	Lethargy, Hyperglutamatemia, Hyperammonemia	OMIM:237310
Trichodysplasia-Xeroderma Syndrome	Sparse scalp hair, Alopecia, Brittle hair, Sparse eyebrow, Sparse body hair, Coarse hair, Trichod...	ORPHA:3361
3-Methylcrotonyl-Coa Carboxylase Deficiency	Abnormal circulating leucine concentration, Organic aciduria, Hyperammonemia	ORPHA:6
Citrullinemia, Type Ii, Adult-Onset	Hypertriglyceridemia, Hyperammonemia, Argininosuccinic aciduria, Hyperargininemia, Elevated plasm...	OMIM:603471
Propionic Acidemia	Increased level of hippuric acid in urine, Hyperglycinuria, Hyperammonemia, Hyperglycinemia, Leth...	OMIM:606054
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive	Keratoconus, Alopecia, Decreased circulating ceruloplasmin concentration, Decreased circulating c...	OMIM:242150
Vitamin B12-Unresponsive Methylmalonic Acidemia	Lethargy, Renal insufficiency, Optic atrophy, Hyperammonemia	ORPHA:27
Ceroid Lipofuscinosis, Neuronal, 5	Retinal degeneration	OMIM:256731
3-Methylglutaconic Aciduria With Deafness, Encephalopathy, And Leigh-Like Syndrome	Hyperalaninemia, 3-Methylglutaconic aciduria, Optic atrophy, Hyperammonemia	OMIM:614739
Canavan Disease	Abnormality of visual evoked potentials, Abnormality of retinal pigmentation, Optic atrophy	ORPHA:141
Aplasia Cutis-Myopia Syndrome	Abnormality of retinal pigmentation	ORPHA:1117
Albinism, Oculocutaneous, Type Ib	Hypopigmentation of hair, Hypopigmentation of the skin, Hypopigmentation of the fundus, Albinism	OMIM:606952
Spinocerebellar Ataxia 7	Macular degeneration, Optic atrophy, Pigmentary retinopathy	OMIM:164500
Retinitis Pigmentosa 56	Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, P...	OMIM:613581
Uncombable Hair Syndrome	Abnormal hair morphology, White hair, Coarse hair, Patchy alopecia, Trichodysplasia, Woolly hair	ORPHA:1410
3-Methylglutaconic Aciduria, Type Iii	3-Methylglutaric aciduria, 3-Methylglutaconic aciduria, Optic atrophy	OMIM:258501
Hypermethioninemia With S-Adenosylhomocysteine Hydrolase Deficiency	Increased circulating creatine kinase MM isoform, Hypoalbuminemia, Hypermethioninemia	OMIM:613752
Methylmalonic Aciduria, Transient, Due To Transcobalamin Receptor Defect	Methylmalonic acidemia, Methylmalonic aciduria, Hyperhomocystinemia	OMIM:613646
Retinitis Pigmentosa 83	Bone spicule pigmentation of the retina, Vitreous floaters, Asteroid hyalosis, Rod-cone dystrophy...	OMIM:618173
Cone-Rod Dystrophy 8	Cone/cone-rod dystrophy, Abnormality of retinal pigmentation, Macular degeneration, Retinal arter...	OMIM:605549
Eem Syndrome	Macular dystrophy, Abnormality of retinal pigmentation, Retinopathy	ORPHA:1897
C3 Glomerulopathy	Membranoproliferative glomerulonephritis, Proteinuria, Mesangial hypercellularity, Drusen, Glomer...	ORPHA:329918
Developmental And Epileptic Encephalopathy 50	Renal tubular acidosis, Oroticaciduria, Hyperammonemia, Death in childhood	OMIM:616457
Primary Hypomagnesemia With Hypercalciuria And Nephrocalcinosis With Severe Ocular Involvement	Abnormality of retinal pigmentation, Macular coloboma, Chorioretinal coloboma	ORPHA:2196
Pyruvate Dehydrogenase E3 Deficiency	Increased urine alpha-ketoglutarate concentration, Elevated circulating branched chain amino acid...	ORPHA:2394
Oculocutaneous Albinism, Type Viii	Hypoplasia of the fovea, Hypopigmentation of hair, Iris transillumination defect, Chorioretinal h...	OMIM:619165
Primary Membranoproliferative Glomerulonephritis	Drusen, Hypoalbuminemia	ORPHA:54370
Mitochondrial Trifunctional Protein Deficiency 1	Elevated circulating creatine kinase concentration, Elevated circulating acylcarnitine concentrat...	OMIM:609015
Retinitis Pigmentosa 51	Macular degeneration, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of...	OMIM:613464
Diprosopus	Abnormality of retinal pigmentation	ORPHA:1681
Retinitis Pigmentosa 49	Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of re...	OMIM:613756
Cone-Rod Dystrophy 20	Cone/cone-rod dystrophy, Optic disc pallor, Bone spicule pigmentation of the retina	OMIM:615973
Hidrotic Ectodermal Dysplasia	Absent eyebrow, Hypopigmentation of hair, Alopecia, Sparse eyelashes, Brittle scalp hair, Sparse ...	ORPHA:189
Cone-Rod Dystrophy 10	Macular degeneration, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of...	OMIM:610283
Kearns-Sayre Syndrome	Abnormality of retinal pigmentation	ORPHA:480
Abetalipoproteinemia	Retinopathy, Retinal degeneration	OMIM:200100
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome	Hypoalbuminemia, Congenital hypothyroidism	ORPHA:88643
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Renal dysplasia, Ureteral duplication, Renal insufficiency, Death in infancy, Elevated circulatin...	OMIM:608836
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency	Abnormal circulating acylcarnitine concentration, Dicarboxylic aciduria, Increased circulating fr...	ORPHA:71212
Oculocutaneous Albinism Type 4	Hypoplasia of the fovea, Abnormality of retinal pigmentation, Hypopigmentation of hair, Albinism,...	ORPHA:79435
Oculocutaneous Albinism Type 1	Hypoplasia of the fovea, White eyelashes, White eyebrow, Blue irides, Depigmented fundus, Iris tr...	ORPHA:352731
Cholestasis, Progressive Familial Intrahepatic, 10	Conjugated hyperbilirubinemia, Hypoalbuminemia, Increased serum bile acid concentration, Hypercho...	OMIM:619868
Iminoglycinuria	Hydroxyprolinuria, Hyperglycinuria, Prolinuria	OMIM:242600
Mitochondrial Dna Depletion Syndrome 14 (Cardioencephalomyopathic Type)	Retinal degeneration	OMIM:616896
Reese Retinal Dysplasia	Remnants of the hyaloid vascular system, Retinal dysplasia	OMIM:266400
Nephrotic Syndrome, Type 2	Hyperlipidemia, Hypoalbuminemia	OMIM:600995
Tyrosinemia, Type Iii	Hypertyrosinemia, 4-hydroxyphenylacetic aciduria, 4-Hydroxyphenylpyruvic aciduria	OMIM:276710
Hsd10 Disease, Infantile Type	Retinal degeneration, Optic atrophy, Hyperammonemia, Abnormal concentration of acylcarnitine in t...	ORPHA:391428
Propionic Acidemia	Organic aciduria, Hyperammonemia	ORPHA:35
Carnitine Palmitoyltransferase I Deficiency	Dicarboxylic aciduria, Elevated circulating creatine kinase concentration, Hyperammonemia, Renal ...	OMIM:255120
Medium Chain Acyl-Coa Dehydrogenase Deficiency	Elevated urinary 3-hydroxybutyric acid, Dicarboxylic aciduria, Elevated circulating creatine kina...	ORPHA:42
Senior-Loken Syndrome	Abnormality of retinal pigmentation, Retinal dystrophy	ORPHA:3156
Thiamine-Responsive Megaloblastic Anemia Syndrome	Cone/cone-rod dystrophy, Aminoaciduria, Optic atrophy, Retinal degeneration	OMIM:249270
Hsd10 Disease	Elevated urinary 3-hydroxybutyric acid, Abnormal urinary acylglycine profile, Optic atrophy	ORPHA:391417
Retinitis Pigmentosa 43	Optic disc pallor, Bone spicule pigmentation of the retina, Pigmentary retinopathy, Rod-cone dyst...	OMIM:613810
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1	Decreased motor nerve conduction velocity, Hypercholesterolemia, Hypoalbuminemia	OMIM:607250
Cataract 50 With Or Without Glaucoma	Retinal detachment	OMIM:620253
Waardenburg Syndrome, Type 2F	Hypermelanotic macule, White hair, Blue irides, Premature graying of hair, White forelock, Cafe-a...	OMIM:619947
Jalili Syndrome	Cone/cone-rod dystrophy, Optic disc pallor, Bone spicule pigmentation of the retina, Macular atro...	OMIM:217080
Nephrotic Syndrome, Type 15	Hypoalbuminemia	OMIM:617609
Birdshot Chorioretinopathy	Retinal pigment epithelial atrophy, Abnormal chorioretinal morphology, Vitritis, Vitreous floaters	OMIM:605808
Poretti-Boltshauser Syndrome	Retinal thinning, Retinal atrophy, Retinal dystrophy	OMIM:615960
Neuroectodermal Melanolysosomal Disease	Hypopigmentation of hair, Generalized hyperpigmentation, Optic atrophy, Premature graying of hair...	ORPHA:33445
Yemenite Deaf-Blind Hypopigmentation Syndrome	Patchy hypo- and hyperpigmentation, Microcornea, Numerous pigmented freckles, White forelock, Cho...	OMIM:601706
Retinitis Pigmentosa 25	Optic disc pallor, Bone spicule pigmentation of the retina, Chorioretinal atrophy, Rod-cone dystr...	OMIM:602772
Mucolipidosis Iv	Optic atrophy, Retinal degeneration	OMIM:252650
Retinitis Pigmentosa 60	Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, R...	OMIM:613983
Hawkinsinuria	Hypertyrosinemia, Hawkinsinuria, 4-hydroxyphenylacetic aciduria, 4-Hydroxyphenylpyruvic aciduria	OMIM:140350
Marie Unna Hereditary Hypotrichosis	Sparse scalp hair, Alopecia, Sparse or absent eyelashes, Coarse hair, Aplasia/Hypoplasia of the e...	ORPHA:444
Griscelli Syndrome Type 3	Hypopigmentation of hair, Partial albinism, Iris hypopigmentation	ORPHA:79478
Severe Early-Childhood-Onset Retinal Dystrophy	Retinal detachment, Bone spicule pigmentation of the retina, Rhegmatogenous retinal detachment, A...	ORPHA:364055
Methylmalonic Aciduria And Homocystinuria, Cblx Type	Methylmalonic acidemia, Homocystinuria, Methylmalonic aciduria, Hyperhomocystinemia	OMIM:309541
Diarrhea 7, Protein-Losing Enteropathy Type	Hypercholesterolemia, Hyperlipidemia, Hypoalbuminemia	OMIM:615863
Retinitis Punctata Albescens	Retinal atrophy, Macular atrophy, Retinal pigment epithelial mottling, Absent foveal reflex, Pigm...	ORPHA:52427
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of	Death in infancy, Dicarboxylic aciduria, Elevated circulating creatine kinase concentration, Exer...	OMIM:201475
Hypermetabolism Due To Uncoupled Mitochondrial Oxidative Phosphorylation 2	Hypervalinemia, Hyperammonemia, Hyperisoleucinemia, Hyperleucinemia, Increased blood urea nitrogen	OMIM:620085
Gracile Syndrome	Increased serum pyruvate, Increased circulating ferritin concentration, Aminoaciduria, Increased ...	OMIM:603358
Retinitis Pigmentosa 3	Bone spicule pigmentation of the retina, Rod-cone dystrophy, Perifoveal hypoautofluorescence	OMIM:300029
Diarrhea 13	Hypoalbuminemia	OMIM:620357
Dihydropyrimidinase Deficiency	Elevated circulating dihydrouracil concentration, Elevated circulating uracil concentration, Urac...	OMIM:222748
Sjögren-Larsson Syndrome	Retinopathy, Macular degeneration, Generalized hyperpigmentation, Abnormality of retinal pigmenta...	ORPHA:816
Sjogren-Larsson Syndrome	Macular crystals, Retinal pigment epithelial atrophy, Retinal thinning, Macular degeneration, Mac...	OMIM:270200
D-2-Hydroxyglutaric Aciduria 2	D-2-hydroxyglutaric aciduria, D-2-hydroxyglutaric acidemia	OMIM:613657
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome	Hypopigmentation of hair, Cataract, Corneal opacity, Alopecia, Aplasia/Hypoplasia of the iris, Pe...	ORPHA:1067
Cystinuria	Renal insufficiency, Recurrent urinary tract infections, Ornithinuria, Argininuria, Nephrolithias...	OMIM:220100
Leber Congenital Amaurosis	Abnormality of retinal pigmentation, Abnormal optic disc morphology	ORPHA:65
Jalili Syndrome	Abnormality of retinal pigmentation, Optic atrophy	ORPHA:1873
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency	Decreased HDL cholesterol concentration, Hypoalbuminemia, Hyperthreoninemia, Ketonuria, Increased...	ORPHA:247598
Retinitis Pigmentosa 23	Rod-cone dystrophy, Retinal pigment epithelial atrophy, Absent foveal reflex, Attenuation of reti...	OMIM:300424
Hsd10 Mitochondrial Disease	Optic atrophy, Retinal degeneration	OMIM:300438
Coats Disease	Abnormal retinal vascular morphology, Retinal detachment, Abnormal macular morphology	ORPHA:190
Laurence-Moon Syndrome	Pigmentary retinopathy, Chorioretinal atrophy	OMIM:245800
Hyperinsulinism-Hyperammonemia Syndrome	Increased urine alpha-ketoglutarate concentration, Asymptomatic hyperammonemia	ORPHA:35878
Tiglic Acidemia	Aminoaciduria	OMIM:275190
Methylmalonic Aciduria And Homocystinuria, Cblc Type	Methylmalonic acidemia, Hypomethioninemia, Renal insufficiency, Proteinuria, Hemolytic-uremic syn...	OMIM:277400
Heimler Syndrome 1	Macular dystrophy, Retinal pigment epithelial mottling	OMIM:234580
Stickler Syndrome Type 2	Retinal detachment, Retinopathy, Abnormal vitreous humor morphology	ORPHA:90654
Interstitial Nephritis, Karyomegalic	Renal tubular cyst, Proteinuria, Elevated circulating creatinine concentration, Stage 5 chronic k...	OMIM:614817
Coenzyme Q10 Deficiency, Primary, 3	Hypoalbuminemia	OMIM:614652
Albinism, Oculocutaneous, Type Ii	Hypoplasia of the fovea, Hypopigmentation of hair, Freckles in sun-exposed areas, Albinism, Blue ...	OMIM:203200
Waardenburg Syndrome, Type 2B	Premature graying of hair, White forelock, Heterochromia iridis	OMIM:600193
Microcephaly-Thin Corpus Callosum-Intellectual Disability Syndrome	Abnormality of retinal pigmentation	ORPHA:397951
Hypotrichosis With Juvenile Macular Degeneration	Macular degeneration, Freckling, Abnormality of macular pigmentation, Melanocytic nevus	ORPHA:1573
Retinal Cone Dystrophy 3B	Cone/cone-rod dystrophy, Macular atrophy	OMIM:610356
Spinocerebellar Ataxia With Axonal Neuropathy Type 1	Hypercholesterolemia, Hypoalbuminemia	ORPHA:94124
Bardet-Biedl Syndrome 9	Bone spicule pigmentation of the retina, Rod-cone dystrophy, Retinal degeneration, Attenuation of...	OMIM:615986
Focal Segmental Glomerulosclerosis 6	Hypoalbuminemia	OMIM:614131
Ichthyosis, Split Hairs, And Amino Aciduria	Aminoaciduria	OMIM:242550
Analbuminemia	Increased LDL cholesterol concentration, Hypercholesterolemia, Hypoalbuminemia, Elevated circulat...	OMIM:616000
Cone-Rod Dystrophy 2	Cone/cone-rod dystrophy, Bone spicule pigmentation of the retina, Retinal pigment epithelial atro...	OMIM:120970
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis	Renal insufficiency, Hypercalciuria, Nephrocalcinosis, Focal segmental glomerulosclerosis, Aminoa...	OMIM:308990
Phenylketonuria	Maternal hyperphenylalaninemia, Increased level of hippuric acid in urine, Elevated urinary pheny...	OMIM:261600
Gyrate Atrophy Of Choroid And Retina	Cataract, Chorioretinal degeneration, Chorioretinal hyperpigmentation, Abnormal hair morphology, ...	ORPHA:414
3-Methylcrotonyl-Coa Carboxylase 1 Deficiency	Acute hyperammonemia, Ketonuria, Elevated urinary 3-methylcrotonylglycine level, 3-hydroxyisovale...	OMIM:210200
Nephrotic Syndrome, Type 9	Hypoalbuminemia	OMIM:615573
Joubert Syndrome 28	Optic disc pallor, Pigmentary retinopathy	OMIM:617121
Mitochondrial Complex Iii Deficiency, Nuclear Type 5	Increased serum pyruvate, Hyperammonemia, Elevated circulating suberic acid concentration, Elevat...	OMIM:615160
Carnitine Deficiency, Systemic Primary	Lethargy, Dicarboxylic aciduria, Elevated circulating creatine kinase concentration, Hyperammonemia	OMIM:212140
Scheie Syndrome	Retinal degeneration	OMIM:607016
Exudative Vitreoretinopathy 6	Retinal detachment, Tractional retinal detachment, Patchy atrophy of the retinal pigment epitheli...	OMIM:616468
Seizures-Intellectual Disability Due To Hydroxylysinuria Syndrome	Aminoaciduria	ORPHA:79156
Erythroderma, Lethal Congenital	Hypoalbuminemia	OMIM:227090
Griscelli Syndrome Type 1	Partial albinism, Hyperlipidemia, White hair, Premature graying of hair, Retinopathy, Iris hypopi...	ORPHA:79476
Peroxisomal Acyl-Coa Oxidase Deficiency	Pigmentary retinopathy, Rod-cone dystrophy, Optic atrophy	OMIM:264470
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency	Methylmalonic acidemia, Stage 5 chronic kidney disease, Hyperammonemia, Methylmalonic aciduria, T...	OMIM:251000
Paget Disease Of Bone 5, Juvenile-Onset	Increased urine deoxypyridinoline level, Macular scar, Hydroxyprolinemia, Hypercalciuria, Angioid...	OMIM:239000
Methylmalonate Semialdehyde Dehydrogenase Deficiency	Methylmalonic acidemia, Elevated urinary 3-hydroxybutyric acid, Retinal pigment epithelial mottli...	OMIM:614105
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
Developmental And Epileptic Encephalopathy 28	Optic atrophy, Retinal degeneration	OMIM:616211
Camptodactyly-Taurinuria Syndrome	Increased urinary taurine, Aminoaciduria	ORPHA:1325
Leukoencephalopathy, Acute Reversible, With Increased Urinary Alpha-Ketoglutarate	Increased urine alpha-ketoglutarate concentration, Increased urine succinate level, Elevated urin...	OMIM:618384
Mitochondrial Dna Depletion Syndrome 17	Low plasma citrulline, Hyperammonemia, Death in childhood	OMIM:618567
Bardet-Biedl Syndrome 3	Pigmentary retinopathy, Rod-cone dystrophy	OMIM:600151
Exudative Vitreoretinopathy 2, X-Linked	Retinal detachment, Peripheral retinal avascularization, Subretinal exudate, Intraretinal exudate...	OMIM:305390
Combined Oxidative Phosphorylation Deficiency 10	Hyperalaninemia, Optic atrophy, Hyperammonemia	OMIM:614702
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency	Acute hyperammonemia, Hyperglutaminemia, Hyperammonemia, Hyperalaninemia, Lethargy	ORPHA:927
Myopia 28, Autosomal Recessive	Retinal detachment	OMIM:619781
Ring Chromosome 14 Syndrome	Pigmentary retinopathy	OMIM:616606
Late-Onset Retinal Degeneration	Multifocal subretinal deposits, Choroidal neovascularization, Macular atrophy, Drusen, Patchy atr...	ORPHA:67042
Tricho-Retino-Dento-Digital Syndrome	Uncombable hair, Abnormality of retinal pigmentation, Juvenile cataract, Sparse hair	ORPHA:1264
Papillorenal Syndrome	Renal cyst, Macular degeneration, Vesicoureteral reflux, Multicystic kidney dysplasia, Optic disc...	OMIM:120330
Severe Canavan Disease	Lethargy, Optic atrophy	ORPHA:314911
Optic Atrophy 8	Abnormality of pattern visual evoked potentials, Optic atrophy, Prolonged somatosensory evoked po...	OMIM:616648
Trichomegaly	Cataract, Long eyelashes	OMIM:190330
Griscelli Syndrome, Type 2	Accumulation of melanosomes in melanocytes, Silver-gray hair, Hypopigmentation of the skin, Melan...	OMIM:607624
Carbamoyl Phosphate Synthetase I Deficiency, Hyperammonemia Due To	Low plasma citrulline, Hyperammonemia, Episodic ammonia intoxication, Lethargy, Hypoargininemia	OMIM:237300
3-Hydroxyisobutyryl-Coa Hydrolase Deficiency	Lethargy, Aminoaciduria	OMIM:250620
Night Blindness-Skeletal Anomalies-Dysmorphism Syndrome	Abnormal retinal vascular morphology, Abnormality of retinal pigmentation, Heterochromia iridis	ORPHA:1390
Retinitis Pigmentosa 14	Optic disc pallor, Bone spicule pigmentation of the retina, Retinal arteriolar constriction, Rod-...	OMIM:600132
Blepharoptosis-Myopia-Ectopia Lentis Syndrome	Abnormality of retinal pigmentation	ORPHA:1259
Patent Ductus Venosus	Hypergalactosemia, Hyperammonemia	OMIM:601466
Cofs Syndrome	Abnormality of retinal pigmentation, Optic atrophy	ORPHA:1466
Monilethrix	Alopecia, Brittle hair, Abnormality of hair texture, Nail dystrophy, Nail dysplasia, Sparse hair	OMIM:158000
Hypotrichosis 8	Ridged nail, Sparse scalp hair, Dry hair, Sparse eyelashes, Sparse axillary hair, Sparse eyebrow,...	OMIM:278150
Orotic Aciduria	Hematuria, Oroticaciduria, Orotic acid crystalluria	OMIM:258900
Tyrosinemia, Type Ii	Hypertyrosinemia, 4-Hydroxyphenylpyruvic aciduria	OMIM:276600
Nephrotic Syndrome, Type 7	Hypoalbuminemia	OMIM:615008
Methylmalonic Aciduria, Cbla Type	Methylmalonic acidemia, Ketonuria, Elevated urine 3-hydroxypropionic acid level, Hyperammonemia, ...	OMIM:251100
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of	Lethargy, Medium chain dicarboxylic aciduria, Hyperglycinuria	OMIM:201450
Cone-Rod Dystrophy And Hearing Loss 1	Macular degeneration, Retinal atrophy	OMIM:617236
Holocarboxylase Synthetase Deficiency	Hyperammonemia, Organic aciduria, Elevated urinary 3-methylcrotonylglycine level, 3-hydroxyisoval...	OMIM:253270
Waardenburg-Shah Syndrome	Abnormality of retinal pigmentation, Hypopigmentation of hair, White eyelashes, Aganglionic megac...	ORPHA:897
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency	Hypopigmentation of hair, Partial albinism	ORPHA:90023
Triokinase And Fmn Cyclase Deficiency Syndrome	Cataract, Hypoalbuminemia	OMIM:618805
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8	Retinal dysplasia	OMIM:614830
Mitochondrial Trifunctional Protein Deficiency 2	Death in infancy, Increased circulating NT-proBNP concentration, Recurrent myoglobinuria, Elevate...	OMIM:620300
Methylmalonic Acidemia With Homocystinuria, Type Cblc	Methylmalonic acidemia, Hypomethioninemia, Glomerulopathy, Ketonuria, Renal insufficiency, Macula...	ORPHA:79282
Spastic Paraplegia 11, Autosomal Recessive	Macular degeneration, Retinal degeneration	OMIM:604360
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 6	Bradykinesia, Lethargy, Death in childhood	OMIM:618683
Holocarboxylase Synthetase Deficiency	Lethargy, Organic aciduria, Hyperammonemia	ORPHA:79242
Carnitine Palmitoyltransferase Ii Deficiency, Infantile	Lethargy, Elevated circulating creatine kinase concentration, Hyperammonemia	OMIM:600649
Poikiloderma, Hereditary Fibrosing, With Tendon Contractures, Myopathy, And Pulmonary Fibrosis	Alopecia, Cataract, Sparse eyelashes, Elevated circulating creatine kinase concentration, Sparse ...	OMIM:615704
Methylmalonic Aciduria And Homocystinuria, Cblj Type	Methylmalonic acidemia, Hypomethioninemia, Methylmalonic aciduria, Hyperhomocystinemia, Elevated ...	OMIM:614857
Waardenburg Syndrome, Type 4B	White eyelashes, White eyebrow, Aganglionic megacolon, Blue irides, Hypopigmented skin patches, P...	OMIM:613265
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy	Death in infancy, Hypospadias, Abnormality of the kidney, Hyperammonemia, 3-Methylglutaconic acid...	ORPHA:1194
Isovaleric Acidemia	Lethargy, Hyperglycinuria	OMIM:243500
Blindness-Scoliosis-Arachnodactyly Syndrome	Retinal detachment, Abnormality of retinal pigmentation	ORPHA:171844
Birt-Hogg-Dubé Syndrome	Abnormality of retinal pigmentation	ORPHA:122
Riboflavin Deficiency	Elevated circulating acylcarnitine concentration, Lethargy, Dicarboxylic aciduria	OMIM:615026
Phosphohydroxylysinuria	Phosphohydroxylysinuria	OMIM:615011
Cystathioninuria	Cystathioninuria	OMIM:219500
Retinal Dystrophy And Iris Coloboma With Or Without Cataract	Retinal atrophy	OMIM:616722
Beta-Aminoisobutyric Aciduria	Beta-aminoisobutyric aciduria	OMIM:210100
Mitochondrial Complex I Deficiency, Nuclear Type 3	Lethargy, Death in childhood	OMIM:618224
Microcephaly-Cleft Palate-Abnormal Retinal Pigmentation Syndrome	Abnormality of retinal pigmentation	ORPHA:2521
Ichthyosis, Mental Retardation, Dwarfism, And Renal Impairment	Nephropathy, Elevated circulating creatinine concentration, Decreased glomerular filtration rate	OMIM:242530
Oculocutaneous Albinism Type 1B	Hypoplasia of the fovea, Abnormality of retinal pigmentation, Hypopigmentation of hair, Albinism,...	ORPHA:79434
Waardenburg Syndrome Type 2	Hypopigmentation of hair, Aganglionic megacolon, Hypopigmented skin patches, Premature graying of...	ORPHA:895
Narp Syndrome	Retinal arteriolar tortuosity, Retinal pigment epithelial mottling, Rod-cone dystrophy, Optic dis...	ORPHA:644
Methylmalonic Aciduria And Homocystinuria, Cbld Type	Methylmalonic acidemia, Hypomethioninemia, Methylmalonic aciduria, Hyperhomocystinemia, Lethargy,...	OMIM:277410
Glutaric Acidemia Type 3	Ketonuria, Glutaric aciduria, Abnormality of circulating enzyme level, Elevated circulating gluta...	ORPHA:35706
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome	Hypopigmentation of hair, Hypopigmentation of the skin, Abnormal retinal morphology, Albinism	ORPHA:2786
Enhanced S-Cone Syndrome	Pigmentary retinopathy, Retinoschisis, Vitreoretinopathy, Macular edema	OMIM:268100
Fanconi Renotubular Syndrome 3	Hyperphosphaturia, Elevated circulating creatinine concentration, Glycosuria, Aminoaciduria, Low-...	OMIM:615605
Retinitis Pigmentosa 72	Optic disc pallor, Bone spicule pigmentation of the retina, Peripapillary atrophy, Rod-cone dystr...	OMIM:616469
Succinic Semialdehyde Dehydrogenase Deficiency	Elevated urinary 4-hydroxybutyric acid, Increased level of gamma-aminobutyric acid in urine, Elev...	OMIM:271980
Hypotrichosis 12	Sparse scalp hair, Dry hair, Slow-growing hair, Sparse axillary hair, Abnormal sweat gland morpho...	OMIM:615885
Alpha-Methylacyl-Coa Racemase Deficiency	Cataract, Hypergonadotropic hypogonadism, Elevated circulating phytanic acid concentration, Pigme...	OMIM:614307
L-2-Hydroxyglutaric Aciduria	L-2-hydroxyglutaric acidemia, L-2-hydroxyglutaric aciduria, Optic atrophy	OMIM:236792
Woolly Hair Nevus	Curly hair, Patchy hypopigmentation of hair, Congenital posterior occipital alopecia, Precocious ...	ORPHA:79414
Monilethrix	Abnormal eyebrow morphology, Brittle hair, Cataract, Slow-growing hair, Abnormal eyelash morpholo...	ORPHA:573
Phenylketonuria	Aminoaciduria	ORPHA:716
Exudative Vitreoretinopathy 1	Retinal detachment, Peripheral retinal avascularization, Vitreous floaters, Exudative vitreoretin...	OMIM:133780
Mitochondrial Complex I Deficiency, Nuclear Type 33	Optic atrophy, Hypospadias, Hyperammonemia	OMIM:618253
Congenital Disorder Of Glycosylation, Type Ih	Decreased circulating T4 concentration, Elevated circulating creatinine concentration, Hypoalbumi...	OMIM:608104
Cystinosis, Adult Nonnephropathic	Elevated circulating creatinine concentration, Abnormal retinal morphology	OMIM:219750
Fbln1-Related Developmental Delay-Central Nervous System Anomaly-Syndactyly Syndrome	Macular degeneration, Choroidal neovascularization	ORPHA:404451
Focal Segmental Glomerulosclerosis 1	Hyperlipidemia, Hypoalbuminemia	OMIM:603278
Galloway-Mowat Syndrome 6	Hypothyroidism, Hypoalbuminemia, Decreased response to growth hormone stimulation test	OMIM:618347
Adenine Phosphoribosyltransferase Deficiency	2,8-dihydroxyadenine crystalluria, Renal insufficiency, Elevated circulating creatinine concentra...	OMIM:614723
Idiopathic Non-Lupus Full-House Nephropathy	Glomerular C3 deposition, Renal insufficiency, Proteinuria, Glomerulonephritis, Microscopic hemat...	ORPHA:567544
Biotinidase Deficiency	Lethargy, Organic aciduria, Optic atrophy, Hyperammonemia	OMIM:253260
Methionine Malabsorption Syndrome	Aminoaciduria, White hair, Blue irides, Positive ferric chloride test	OMIM:250900
Galactosemia Iii	Aminoaciduria, Galactosuria, Hypergalactosemia	OMIM:230350
Coloboma Of Optic Nerve	Retinal detachment, Optic disc coloboma	OMIM:120430
Piebald Trait-Neurologic Defects Syndrome	Abnormal eyebrow morphology, Hypopigmentation of hair, Aganglionic megacolon, Abnormal eyelash mo...	ORPHA:2885
Citrullinemia Type I	Elevated plasma citrulline, Lethargy, Hyperammonemia	ORPHA:247525
Methylmalonic Aciduria, Cblb Type	Methylmalonic acidemia, Ketonuria, Methylmalonic aciduria, Hyperammonemia, Hyperglycinemia, Lethargy	OMIM:251110
Retinitis Pigmentosa 37	Pigmentary retinopathy, Rod-cone dystrophy, Cystoid macular degeneration	OMIM:611131
Pyruvate Dehydrogenase E1-Beta Deficiency	Hyperammonemia	OMIM:614111
Neutropenia, Severe Congenital, 9, Autosomal Dominant	3-Methylglutaconic aciduria	OMIM:619813
Oculocutaneous Albinism Type 2	Hypoplasia of the fovea, Abnormality of retinal pigmentation, Hypopigmentation of hair, White eye...	ORPHA:79432
S-Adenosylhomocysteine Hydrolase Deficiency	Elevated circulating creatine kinase concentration, Abnormal circulating homocysteine concentrati...	ORPHA:88618
Hypothyroidism, Congenital, Nongoitrous, 7	Lethargy	OMIM:618573
Retinitis Pigmentosa 75	Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of retinal blood vessels	OMIM:617023
Vitreoretinopathy, Neovascular Inflammatory	Peripheral retinal neovascularization, Retinal detachment, Large hyperpigmented retinal spots, Po...	OMIM:193235
Retinitis Pigmentosa 66	Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy	OMIM:615233
Galloway-Mowat Syndrome 8	Hypoalbuminemia	OMIM:618349
Vogt-Koyanagi-Harada Disease	Retinal detachment, Abnormal eyebrow morphology, Cataract, Sparse scalp hair, Poliosis, Abnormal ...	ORPHA:3437
Nephrogenic Syndrome Of Inappropriate Antidiuresis	Hyponatremia, Reduced blood urea nitrogen, Hypernatriuria, Hyposthenuria, Decreased serum creatin...	OMIM:300539
Hyperinsulinemic Hypoglycemia, Familial, 8	Hypercholesterolemia, Hyperammonemia, Increased C-peptide level	OMIM:620211
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)	Hypertyrosinemia, Death in infancy, 4-hydroxyphenylacetic aciduria, Conjugated hyperbilirubinemia...	OMIM:617156
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis	Optic disc pallor, Macular coloboma, Macular atrophy, Abnormal auditory evoked potentials, Geogra...	OMIM:619260
Hyperinsulinemic Hypoglycemia, Familial, 6	Asymptomatic hyperammonemia	OMIM:606762
Acute Zonal Occult Outer Retinopathy	Macular drusen, Retinal pigment epithelial atrophy, Abnormal retinal vascular morphology, Retinal...	ORPHA:284454
Vitreoretinochoroidopathy	Retinal detachment, Retinal arteriolar occlusion, Vitreous hemorrhage, Pigmentary retinopathy, Re...	OMIM:193220
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2	Retinopathy, Optic disc pallor, Optic atrophy, Macular atrophy	OMIM:616171
Bardet-Biedl Syndrome 17	Cone/cone-rod dystrophy, Bone spicule pigmentation of the retina, Macular atrophy, Rod-cone dystr...	OMIM:615994
Ichthyosis-Intellectual Disability-Dwarfism-Renal Impairment Syndrome	Aminoaciduria	ORPHA:2278
Dicarboxylic Aminoaciduria	Aminoaciduria, Aspartic aciduria, Nephrolithiasis	OMIM:222730
Chylomicron Retention Disease	Hypotriglyceridemia, Hypoalbuminemia, Decreased LDL cholesterol concentration, Hypocholesterolemia	OMIM:246700
Gaba-Transaminase Deficiency	Lethargy, Death in childhood	OMIM:613163
Glut1 Deficiency Syndrome 1	Lethargy, Paroxysmal lethargy	OMIM:606777
Retinitis Pigmentosa	Abnormal retinal vascular morphology, Abnormality of retinal pigmentation, Optic atrophy	ORPHA:791
Carnitine-Acylcarnitine Translocase Deficiency	Dicarboxylic aciduria, Elevated circulating acylcarnitine concentration, Oliguria, Hyperammonemia...	ORPHA:159
Ramon Syndrome	Abnormality of retinal pigmentation	ORPHA:3019
Congenital Heart Defect-Round Face-Developmental Delay Syndrome	Hypopigmentation of hair, Generalized hyperpigmentation	ORPHA:1355
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria	Decreased nerve conduction velocity, Aminoaciduria, Elevated circulating creatine kinase concentr...	ORPHA:1933
Hypobetalipoproteinemia, Familial, 1	Rod-cone dystrophy, Retinal degeneration	OMIM:615558
Fibronectin Glomerulopathy	Hypoalbuminemia	ORPHA:84090
Ceroid Lipofuscinosis, Neuronal, 10	Rod-cone dystrophy, Retinal atrophy	OMIM:610127
Carnitine-Acylcarnitine Translocase Deficiency	Lethargy, Dicarboxylic aciduria, Elevated circulating creatine kinase concentration, Hyperammonemia	OMIM:212138
Congenital Lethal Erythroderma	Hypoalbuminemia	ORPHA:1954
Glutamine Deficiency, Congenital	Hypoglutaminemia, Neonatal death, Hyperammonemia	OMIM:610015
Aceruloplasminemia	Retinal degeneration	OMIM:604290
Combined Oxidative Phosphorylation Deficiency 5	Death in infancy, Hyperammonemia, Abnormal renal tubule morphology	OMIM:611719
Waardenburg Syndrome, Type 2A	White eyelashes, White eyebrow, Partial albinism, Albinism, Synophrys, Premature graying of hair,...	OMIM:193510
Retinal Dystrophy With Or Without Macular Staphyloma	Retinal pigment epithelial mottling, Bone spicule pigmentation of the retina, Retinal dystrophy, ...	OMIM:617547
Nephronophthisis-Like Nephropathy 2	Renal insufficiency, Polyuria, Elevated circulating creatinine concentration, Periglomerular fibr...	OMIM:619468
Lipoyltransferase 1 Deficiency	Death in infancy, Hyperglutaminemia, Lacticaciduria, Hyperprolinemia, Alaninuria, Hyperglutaminur...	OMIM:616299
Mitochondrial Complex I Deficiency, Nuclear Type 6	Optic disc pallor, Optic atrophy, Lethargy	OMIM:618228
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1	Lacticaciduria, Renal hypoplasia, Aminoaciduria, 3-Methylglutaconic aciduria, Death in childhood	OMIM:604273
Metabolic Crises, Recurrent, With Variable Encephalomyopathic Features And Neurologic Regression	Elevated circulating creatine kinase concentration, Hyperammonemia	OMIM:618416
Methylmalonic Acidemia With Homocystinuria, Type Cbld	Lethargy	ORPHA:79283
Autosomal Dominant Optic Atrophy Plus Syndrome	Absent brainstem auditory responses, Optic atrophy, Abnormal retinal nerve fiber layer morphology...	ORPHA:1215
Infantile Liver Failure Syndrome 2	Lethargy, Hyperammonemia	OMIM:616483
Congenital Enterocyte Heparan Sulfate Deficiency	Abnormal circulating protein concentration, Abnormal circulating polysaccharide concentration, Hy...	ORPHA:103910
Ataxia With Vitamin E Deficiency	Abnormality of visual evoked potentials, Abnormality of retinal pigmentation	ORPHA:96
Ataxia-Intellectual Disability-Oculomotor Apraxia-Cerebellar Cysts Syndrome	Retinal atrophy, Retinal dystrophy	ORPHA:370022
Juvenile Paget Disease	Abnormality of retinal pigmentation, Optic atrophy, Melanocytic nevus	ORPHA:2801
Thiamine-Responsive Megaloblastic Anemia Syndrome	Lethargy, Optic atrophy, Retinal dystrophy	ORPHA:49827
Multiple Acyl-Coa Dehydrogenase Deficiency	Elevated circulating creatine kinase concentration, Elevated circulating acylcarnitine concentrat...	ORPHA:26791
Bietti Crystalline Corneoretinal Dystrophy	Chorioretinal atrophy, Retinal degeneration	OMIM:210370
Hydroxykynureninuria	Aminoaciduria	OMIM:236800
Lethal Infantile Mitochondrial Myopathy	Lethargy, Renal insufficiency	ORPHA:254857
Bardet-Biedl Syndrome 6	Pigmentary retinopathy, Rod-cone dystrophy	OMIM:605231
Mucopolysaccharidosis-Plus Syndrome	Synophrys, Optic atrophy, Low anterior hairline, Low posterior hairline, Chorioretinal hypopigmen...	OMIM:617303
Homocystinuria Without Methylmalonic Aciduria	Lethargy	ORPHA:622
Neurodegeneration, Childhood-Onset, With Multisystem Involvement Due To Mitochondrial Dysfunction	Optic atrophy, Opto-chiasmatic atrophy, Elevated urine acetoacetic acid level, 3-Methylglutaconic...	OMIM:620089
Thrombotic Thrombocytopenic Purpura	Renal insufficiency, Proteinuria, Hematuria, Decreased serum creatinine, Acute kidney injury	ORPHA:54057
Autoinflammation With Infantile Enterocolitis	Increased circulating ferritin concentration, Hypoalbuminemia, Elevated circulating C-reactive pr...	OMIM:616050
Cerebellar Ataxia-Hypogonadism Syndrome	Abnormality of retinal pigmentation, Optic atrophy	ORPHA:1173
Rajab Interstitial Lung Disease With Brain Calcifications 2	Hypothyroidism, Hypopituitarism, Hypertriglyceridemia, Hypoalbuminemia	OMIM:619013
Mitochondrial Complex I Deficiency, Nuclear Type 11	Pigmentary retinopathy	OMIM:618234
Juvenile Neuronal Ceroid Lipofuscinosis	Optic disc pallor, Pigmentary retinopathy, Retinal degeneration	ORPHA:79264
Idiopathic Intracranial Hypertension	Papilledema, Lethargy, Depression	ORPHA:238624
Oculocutaneous Albinism Type 3	White eyelashes, White eyebrow, Freckling, Absent skin pigmentation, Blue irides, Optic nerve mis...	ORPHA:79433
Dihydrolipoamide Dehydrogenase Deficiency	Increased serum pyruvate, Lethargy, Death in childhood	OMIM:246900
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia	Hypercholesterolemia, Hypoalbuminemia, Elevated circulating creatine kinase concentration	OMIM:208920
Splenoportal Vascular Anomalies	Hyperammonemia	OMIM:271500
Hypouricemia, Renal, 1	Hypouricemia, Proteinuria, Elevated circulating creatinine concentration, Urolithiasis, Renal tub...	OMIM:220150
Mitochondrial Complex I Deficiency, Nuclear Type 35	Elevated urinary 4-hydroxybutyric acid, Lacticaciduria, Hyperprolinemia, Neonatal death, Hyperala...	OMIM:619003
Spastic Paraplegia 15, Autosomal Recessive	Macular degeneration, Retinal degeneration	OMIM:270700
Hypotrichosis 13	Sparse hair, Woolly hair, Sparse eyelashes, Abnormal sweat gland morphology	OMIM:615896
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 4B	Neonatal death, 3-Methylglutaconic aciduria	OMIM:615228
Developmental And Epileptic Encephalopathy 82	Hyperammonemia	OMIM:618721
Clouston Syndrome	Alopecia, Brittle hair, Cataract, Sparse eyelashes, Alopecia totalis, Slow-growing hair, Sparse e...	OMIM:129500
Thiamine Metabolism Dysfunction Syndrome 4 (Bilateral Striatal Degeneration And Progressive Polyneuropathy Type)	Lethargy	OMIM:613710
Albinism, Oculocutaneous, Type Vi	Hypoplasia of the fovea, Generalized hypopigmentation, Fair hair	OMIM:113750
Hypercalcemia, Infantile, 1	Polyuria, Hypercalcemia, Nephrolithiasis, Hypercalciuria, Nephrocalcinosis, Lethargy, Medullary n...	OMIM:143880
Retinitis Pigmentosa-Juvenile Cataract-Short Stature-Intellectual Disability Syndrome	Undetectable visual evoked potentials, Patchy atrophy of the retinal pigment epithelium, Rod-cone...	ORPHA:436245
Biotinidase Deficiency	Optic neuropathy, Optic atrophy, Hyperammonemia, Organic aciduria, Lethargy	ORPHA:79241
Hyperlysinemia	Argininuria, Hyperammonemia, Cystinuria, Hyperlysinuria, Hypoornithinemia, Decreased urine alpha-...	ORPHA:2203
Senior-Loken Syndrome 1	Renal insufficiency, Retinal dystrophy, Polyuria, Thickening of the tubular basement membrane, Im...	OMIM:266900
Long Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency	Retinopathy, Abnormality of retinal pigmentation, Abnormal chorioretinal morphology, Chorioretina...	ORPHA:5
Leukoencephalopathy With Vanishing White Matter 1	Lethargy, Optic atrophy	OMIM:603896
Reni Syndrome	Hypertriglyceridemia, Hypoalbuminemia, Adrenal insufficiency, Hypogonadism, Hypothyroidism, Hyper...	OMIM:617575
Cone-Rod Dystrophy 6	Cone/cone-rod dystrophy, Bone spicule pigmentation of the retina, Macular atrophy, Chorioretinal ...	OMIM:601777
Variegate Porphyria	Increased urinary porphobilinogen, Elevated urinary delta-aminolevulinic acid, Porphyrinuria	OMIM:176200
3-Methylglutaconic Aciduria Type 9	3-Methylglutaconic aciduria, Optic atrophy, Urinary incontinence	ORPHA:505216
Hjv Or Hamp-Related Hemochromatosis	Generalized hyperpigmentation, Increased circulating ferritin concentration, Elevated transferrin...	ORPHA:79230
Mpi-Cdg	Hypothyroidism, Hypoalbuminemia, Hyperinsulinemic hypoglycemia	ORPHA:79319
Mitochondrial Complex I Deficiency, Nuclear Type 4	Increased serum pyruvate, Lethargy, Death in childhood	OMIM:618225
Developmental And Epileptic Encephalopathy 92	Lethargy	OMIM:617829
Combined Oxidative Phosphorylation Deficiency 2	Neonatal death, Lethargy	OMIM:610498
Mitochondrial Complex Iii Deficiency, Nuclear Type 11	Hyperammonemia	OMIM:620137
Megalocornea	Iridodonesis, Retinal detachment, Cataract, Deep anterior chamber, Mosaic corneal dystrophy, Iris...	OMIM:309300
Senior-Loken Syndrome 9	Macular degeneration, Rod-cone dystrophy, Retinal dystrophy	OMIM:616629
3-Methylglutaconic Aciduria, Type Ix	3-Methylglutaric aciduria, 3-Methylglutaconic aciduria, Optic atrophy, Urinary incontinence	OMIM:617698
Dent Disease 2	Elevated circulating creatine kinase concentration, Chronic kidney disease, Hypercalciuria, Nephr...	OMIM:300555
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type	Retinal pigment epithelial mottling, Retinopathy	OMIM:219900
Waardenburg Syndrome, Type 4A	White eyelashes, White eyebrow, Aganglionic megacolon, Blue irides, Hypopigmented skin patches, P...	OMIM:277580
Hawkinsinuria	Abnormal circulating tyrosine concentration, 4-hydroxyphenylacetic aciduria, 4-Hydroxyphenylpyruv...	ORPHA:2118
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige	Sparse hair, Hypernatremia, Hypoalbuminemia, Reduced circulating growth hormone concentration	OMIM:615508
Nephrotic Syndrome, Type 3	Hypoalbuminemia	OMIM:610725
Oculocutaneous Albinism Type 1A	Hypoplasia of the fovea, Hypopigmentation of hair, Albinism, Ocular albinism, Abnormal optic nerv...	ORPHA:79431
Congenital Toxoplasmosis	Abnormality of retinal pigmentation	ORPHA:858
Congenital Disorder Of Glycosylation, Type Ip	Hyperammonemia, Death in childhood	OMIM:613661
Mitochondrial Dna Depletion Syndrome 2 (Myopathic Type)	Facial diplegia, Aminoaciduria, Elevated circulating creatine kinase concentration, Death in chil...	OMIM:609560
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration	Ketonuria, Elevated circulating creatine kinase concentration, Elevated circulating acylcarnitine...	OMIM:616878
Mitochondrial Complex Iv Deficiency, Nuclear Type 20	Death in infancy, Hyperprolinemia, Death in childhood, Hyperalaninemia, Lethargy	OMIM:619064
Alg1-Cdg	Hypoalbuminemia	ORPHA:79327
Nephrotic Syndrome, Type 6	Hypoalbuminemia	OMIM:614196
Developmental And Epileptic Encephalopathy 40	Lethargy	OMIM:617065
Stimmler Syndrome	Aminoaciduria	ORPHA:3199
Sabinas Brittle Hair Syndrome	Dry hair, Brittle hair, Nail dystrophy, Nail dysplasia, Sparse hair	OMIM:211390
Flynn-Aird Syndrome	Alopecia of scalp, Alopecia, Rod-cone dystrophy, Cataract	OMIM:136300
Early Myoclonic Encephalopathy	Lethargy	ORPHA:1935
2-Methylbutyryl-Coa Dehydrogenase Deficiency	Lethargy, 2-ethylhydracylic aciduria	OMIM:610006
Erythrokeratodermia Variabilis	Alopecia, Cataract, Corneal opacity, Hypermelanotic macule, Diabetes mellitus, Abnormal hair morp...	ORPHA:317
Neonatal Adrenoleukodystrophy	Abnormality of retinal pigmentation, Optic atrophy	ORPHA:44
Refsum Disease, Classic	Rod-cone dystrophy, Retinal degeneration	OMIM:266500
Mercaptolactate-Cysteine Disulfiduria	Aminoaciduria	OMIM:249650
3-Methylglutaconic Aciduria Type 1	3-Methylglutaconic aciduria	ORPHA:67046
Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency	Hypomethioninemia, Optic atrophy, Hyperhomocystinemia, Cystathioninemia, Lethargy, Homocystinuria	ORPHA:395
Retinitis Pigmentosa And Erythrocytic Microcytosis	Optic disc pallor, Retinal atrophy, Retinal pigment epithelial atrophy, Epiretinal membrane, Phot...	OMIM:616959
Coach Syndrome 2	Hyperechogenic kidneys, Elevated circulating creatinine concentration, Chorioretinal coloboma	OMIM:619111
Oculopharyngodistal Myopathy 3	Pigmentary retinopathy	OMIM:619473
Mitochondrial Complex Iii Deficiency, Nuclear Type 8	Optic disc pallor, Elevated circulating acylcarnitine concentration, Abnormal circulating creatin...	OMIM:615838
Cryoglobulinemia, Familial Mixed	Proteinuria, Chronic kidney disease, Elevated circulating creatinine concentration, Hematuria, Ab...	OMIM:123550
Night Blindness, Congenital Stationary, Type 1B	Congenital stationary night blindness, Bone spicule pigmentation of the retina	OMIM:257270
Leber Congenital Amaurosis 15	Optic disc pallor, Pigmentary retinopathy, Peripapillary atrophy, Dull foveal reflex, Retinal deg...	OMIM:613843
Hemochromatosis, Type 2A	Increased circulating ferritin concentration, Increased serum iron, Hyperpigmentation of the skin...	OMIM:602390
3-Hydroxyisobutyric Aciduria	Aminoaciduria	OMIM:236795
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form	Renal insufficiency, Dicarboxylic aciduria, Elevated circulating creatine kinase concentration, E...	ORPHA:228308
Nephrotic Syndrome, Type 1	Hypoproteinemia, Hypothyroidism, Hyperlipidemia, Hypoalbuminemia	OMIM:256300
Corpus Callosum Agenesis-Neuronopathy Syndrome	Abnormality of retinal pigmentation	ORPHA:1496
Coproporphyria, Hereditary	Increased urinary porphobilinogen, Depression, Elevated urinary delta-aminolevulinic acid	OMIM:121300
Retinitis Pigmentosa 74	Optic disc pallor, Rod-cone dystrophy, Pigmentary retinopathy	OMIM:616562
Mitochondrial Complex I Deficiency, Nuclear Type 5	Lethargy, Optic atrophy	OMIM:618226
Posterior Column Ataxia With Retinitis Pigmentosa	Bone spicule pigmentation of the retina, Decreased sensory nerve conduction velocity, Optic atrop...	OMIM:609033
Insulin-Resistance Syndrome Type B	Alopecia, Abnormal circulating lipid concentration, Abnormal circulating fatty-acid concentration...	ORPHA:2298
Citrullinemia Type Ii	Decreased HDL cholesterol concentration, Acute hyperammonemia, Hypertriglyceridemia, Hyperlipidem...	ORPHA:247585
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5	Chronic kidney disease, Elevated circulating creatinine concentration, Renal cyst, Focal segmenta...	OMIM:617056
Retinitis Pigmentosa, Deafness, Mental Retardation, And Hypogonadism	Hypergonadotropic hypogonadism, Insulin-resistant diabetes mellitus, Pigmentary retinopathy, Spar...	OMIM:268020
Cutis Laxa, Autosomal Recessive, Type Iiia	Low plasma citrulline, Hyperammonemia, Hypoprolinemia, Hypoornithinemia, Hypoargininemia	OMIM:219150
Neonatal Severe Primary Hyperparathyroidism	Aminoaciduria	ORPHA:417
Central Diabetes Insipidus	Hyponatremia, Lethargy, Nocturia, Depression	ORPHA:178029
Autosomal Recessive Spastic Paraplegia Type 15	Pigmentary retinopathy, Retinal flecks, Yellow/white lesions of the retina	ORPHA:100996
Prader-Willi Syndrome Due To Imprinting Mutation	Hypopigmentation of hair, Hypopigmentation of the skin, Hypogonadotropic hypogonadism, Iris hypop...	ORPHA:177910
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)	Conjugated hyperbilirubinemia, Hyperkalemia, Hypoalbuminemia, Increased total bilirubin	OMIM:618528
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5	Anuria, Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, St...	OMIM:612925
Combined Oxidative Phosphorylation Deficiency 3	Hyponatremia, Death in infancy, Elevated circulating creatine kinase concentration, Optic neuropa...	OMIM:610505
Hypotrichosis 14	Sparse pubic hair, Short eyelashes, Absent axillary hair, Sparse hair, Sparse body hair	OMIM:618275
Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome	Ketonuria, Elevated circulating creatine kinase concentration, Elevated circulating acylcarnitine...	ORPHA:480864
Amino Aciduria With Mental Deficiency, Dwarfism, Muscular Dystrophy, Osteoporosis, And Acidosis	Aminoaciduria	OMIM:204730
Obesity Due To Prohormone Convertase I Deficiency	Decreased response to growth hormone stimulation test, Gonadotropin deficiency, Hyperinsulinemia,...	ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency	Decreased response to growth hormone stimulation test, Gonadotropin deficiency, Hyperinsulinemia,...	ORPHA:71526
Osteopetrosis, Autosomal Recessive 9	Stage 3 chronic kidney disease, Papilledema, Elevated circulating creatinine concentration, Hyper...	OMIM:620366
Methylmalonic Aciduria And Homocystinuria, Cblf Type	Methylmalonic acidemia, Cystathioninuria, Methylmalonic aciduria, Hyperhomocystinemia, Cystathion...	OMIM:277380
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form	Alopecia, Corneal opacity, Onychogryposis, Depigmentation/hyperpigmentation of skin, Generalized ...	ORPHA:79396
Congenital Muscular Dystrophy With Intellectual Disability	Pigmentary retinopathy, Facial palsy	ORPHA:370968
Jeune Syndrome	Abnormality of retinal pigmentation	ORPHA:474
Immunodeficiency 43	Hypoproteinemia, Decreased circulating beta-2-microglobulin level, Hypoalbuminemia	OMIM:241600
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy	Retinal detachment, Retinal dystrophy, Macular atrophy, Chorioretinal coloboma	OMIM:212550
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency	Lethargy, Hyperlipidemia, Ketonuria, Glycosuria	ORPHA:2089
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3	Anuria, Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, He...	OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2	Anuria, Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, He...	OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6	Anuria, Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, He...	OMIM:612926
Combined Oxidative Phosphorylation Deficiency 4	Death in infancy, Hyperammonemia	OMIM:610678
Encephalopathy, Acute, Infection-Induced (Herpes-Specific), Susceptibility To, 8	Lethargy	OMIM:617900
Mitochondrial Complex Iv Deficiency, Nuclear Type 1	Hyperphosphaturia, Proteinuria, Optic atrophy, Renal tubular dysfunction, Pigmentary retinopathy,...	OMIM:220110
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia	Lethargy, Optic atrophy, Hyperglycinemia, Death in infancy	OMIM:614299
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4	Anuria, Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, He...	OMIM:612924
Elejalde Neuroectodermal Melanolysosomal Syndrome	Accumulation of melanosomes in melanocytes, Silver-gray hair, Hypopigmentation of the skin, Melan...	OMIM:256710
Zika Virus Disease	Optic disc hypoplasia, Macular atrophy, Retinal pigment epithelial mottling, Chorioretinal atroph...	ORPHA:448237
Ataxia-Oculomotor Apraxia 4	Hypercholesterolemia, Hypoalbuminemia, Elevated circulating alpha-fetoprotein concentration	OMIM:616267
Spinocerebellar Ataxia With Axonal Neuropathy Type 2	Hypercholesterolemia, Hypoalbuminemia, Elevated circulating creatine kinase concentration, Elevat...	ORPHA:64753
Obesity And Hypopigmentation	Red hair, Hyperinsulinemia	OMIM:620195
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome	Abnormality of retinal pigmentation	ORPHA:3085
Immunodeficiency 27A	Hypoalbuminemia	OMIM:209950
Congenital Primary Aphakia	Retinal dysplasia	ORPHA:83461
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia	Decreased serum creatinine, Hypohomocysteinemia, Hypocystinemia	OMIM:617744
Isobutyryl-Coa Dehydrogenase Deficiency	Elevated circulating acylcarnitine concentration, Dicarboxylic aciduria, Decreased circulating ca...	ORPHA:79159
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy	Hyperphosphaturia, Proteinuria, Optic atrophy, Renal tubular dysfunction, Pigmentary retinopathy,...	ORPHA:436271
Retinitis Pigmentosa 82 With Or Without Situs Inversus	Optic disc pallor, Rod-cone dystrophy, Macular atrophy	OMIM:615434
Mitochondrial Complex Iv Deficiency, Nuclear Type 22	Increased serum pyruvate, Elevated circulating dodecanoylcarnitine concentration, 3-hydroxydicarb...	OMIM:619355
Mitochondrial Complex Iv Deficiency, Nuclear Type 15	Pigmentary retinopathy	OMIM:619059
Combined Oxidative Phosphorylation Deficiency 11	Death in infancy, Renal insufficiency, Renal hypoplasia, Renal cyst, Renal tubular acidosis, Stil...	OMIM:614922
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form	Decreased serum iron, Corneal erosion, Decreased serum zinc, Hypoalbuminemia, Nail dysplasia, Dec...	ORPHA:89842
Multiple Acyl-Coa Dehydrogenase Deficiency	Glutaric aciduria, Generalized aminoaciduria, Renal cortical cysts, Proximal tubulopathy, Ethylma...	OMIM:231680
Trichohepatoenteric Syndrome 1	Curly hair, Brittle hair, Woolly hair, Fine hair, Increased serum iron, Hypoalbuminemia, Abnormal...	OMIM:222470
3-Hydroxy-3-Methylglutaric Aciduria	Ketonuria, Hyperammonemia, 3-Methylglutaric aciduria, Apathy, Hyperuricemia, Lethargy	ORPHA:20
Neurocutaneous Melanocytosis	Abnormality of retinal pigmentation, Generalized hyperpigmentation, Numerous congenital melanocyt...	ORPHA:2481
Immunodeficiency 83, Susceptibility To Viral Infections	Lethargy	OMIM:613002
3-Methylglutaconic Aciduria Type 3	3-Methylglutaconic aciduria	ORPHA:67047
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 2	Hypospadias, Hyperammonemia, 3-Methylglutaconic aciduria, Death in childhood, Neonatal death, Hyp...	OMIM:614052
Encephalopathy, Ethylmalonic	Abnormal retinal vascular morphology, Death in infancy, Elevated circulating butyrylcarnitine con...	OMIM:602473
Desmoid Tumor	Abnormality of retinal pigmentation	ORPHA:873
Galactose Epimerase Deficiency	Aminoaciduria	ORPHA:79238
Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency	Renal insufficiency, Dysuria, Elevated circulating creatinine concentration, Hyperuricosuria, Hyp...	ORPHA:79233
Mitochondrial Complex Iv Deficiency, Nuclear Type 7	Hyperalaninemia, Hyperammonemia	OMIM:619051
Acute Bilirubin Encephalopathy	Abnormal auditory evoked potentials, Conjunctival icterus, Abnormal conjunctiva morphology, Hypoa...	ORPHA:529799
Chronic Bilirubin Encephalopathy	Abnormal auditory evoked potentials, Conjunctival icterus, Abnormal conjunctiva morphology, Hypoa...	ORPHA:529808
Mitochondrial Complex Ii Deficiency, Nuclear Type 1	Pigmentary retinopathy, Optic atrophy	OMIM:252011
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome	Retinal degeneration	ORPHA:542306
Acyl-Coa Dehydrogenase 9 Deficiency	Dicarboxylic aciduria, Elevated circulating acylcarnitine concentration, Hyperammonemia, Decrease...	ORPHA:99901
Adult-Onset Chronic Progressive External Ophthalmoplegia With Mitochondrial Myopathy	Pigmentary retinopathy	ORPHA:329336
Piebaldism	Hypopigmentation of hair, White eyelashes, White eyebrow, Aganglionic megacolon, Synophrys, Pieba...	ORPHA:2884
3-Methylglutaconic Aciduria, Type I	3-Methylglutaconic aciduria, Optic atrophy, Urinary incontinence	OMIM:250950
Linear Verrucous Nevus Syndrome	Sparse scalp hair, Cataract, Abnormal cornea morphology, Hypophosphatemia, Retinopathy, Iris colo...	ORPHA:2611
Hemophagocytic Lymphohistiocytosis, Familial, 1	Hyponatremia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Increased VLDL chole...	OMIM:267700
Non-Specific Early-Onset Epileptic Encephalopathy	Optic atrophy, Retinal degeneration	ORPHA:442835
Fanconi Renotubular Syndrome 1	Impaired renal tubular reabsorption of phosphate, Renal insufficiency, Hyperphosphaturia, Lactica...	OMIM:134600
Lymphoproliferative Syndrome, X-Linked, 1	Hypoalbuminemia, Elevated circulating C-reactive protein concentration	OMIM:308240
Classic Glucose Transporter Type 1 Deficiency Syndrome	Lethargy	ORPHA:71277
Mucolipidosis Type Iv	Abnormality of retinal pigmentation, Retinopathy	ORPHA:578
Late Infantile Neuronal Ceroid Lipofuscinosis	Abnormality of visual evoked potentials, Abnormal amplitude of flash visual evoked potentials, Re...	ORPHA:168491
Renal Hypoplasia, Bilateral	Hyponatremia, Proteinuria, Chronic kidney disease, Hyperkalemia, Renal hypoplasia, Renal cyst, Ol...	ORPHA:97362
Combined Malonic And Methylmalonic Acidemia	Dicarboxylic acidemia, Methylmalonic aciduria, Dicarboxylic aciduria, Methylmalonic acidemia	ORPHA:289504
Waardenburg Syndrome Type 1	Hypopigmentation of hair, White eyelashes, White eyebrow, Aganglionic megacolon, Abnormal hair mo...	ORPHA:894
Renal Tubular Acidosis, Distal, 1	Impaired urinary acidification, Elevated circulating creatinine concentration, Nephrolithiasis, N...	OMIM:179800
Beta-Ketothiolase Deficiency	Ketonuria, Apathy, Hyperuricemia, Hyperammonemia	ORPHA:134
Chromosome 16Q12 Duplication Syndrome	Temporal optic disc pallor, Retinal pigment epithelial mottling	OMIM:619649
Neurodevelopmental Disorder With Seizures And Brain Abnormalities	Retinal pigment epithelial mottling	OMIM:619517
Cholestasis, Progressive Familial Intrahepatic, 5	Conjugated hyperbilirubinemia, Hyperammonemia, Elevated circulating alpha-fetoprotein concentrati...	OMIM:617049
Joubert Syndrome 6	Retinal degeneration, Chorioretinal coloboma	OMIM:610688
Dimethylglycine Dehydrogenase Deficiency	Elevated circulating N,N-dimethylglycine concentration, Elevated circulating creatine kinase conc...	OMIM:605850
Genetic Hyperferritinemia Without Iron Overload	Cataract, Increased circulating ferritin concentration, Abnormal serum iron concentration, Elevat...	ORPHA:254704
Pontocerebellar Hypoplasia, Type 6	Lethargy, Death in childhood	OMIM:611523
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly	Retinal degeneration	OMIM:615630
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome	Cafe-au-lait spot, Rod-cone dystrophy, Abnormality of pattern visual evoked potentials, Retinal d...	ORPHA:166035
Abetalipoproteinemia	Abnormality of retinal pigmentation, Decreased HDL cholesterol concentration, Decreased LDL chole...	ORPHA:14
Febrile Infection-Related Epilepsy Syndrome	Lethargy	ORPHA:163703
Interstitial Lung And Liver Disease	Aminoaciduria, Hyperammonemia	OMIM:615486
Congenital Disorder Of Glycosylation, Type Ib	Hypoalbuminemia, Hyperinsulinemic hypoglycemia	OMIM:602579
Autosomal Recessive Chorioretinopathy-Microcephaly Syndrome	Abnormality of retinal pigmentation, Optic atrophy	ORPHA:2518
Mitochondrial Dna Depletion Syndrome 20 (Mngie Type)	Macular degeneration	OMIM:619780
Pyruvate Dehydrogenase E1-Alpha Deficiency	Increased serum pyruvate, Hyperalaninemia, Lethargy	OMIM:312170
Pyruvate Carboxylase Deficiency	Hypoglutaminemia, Increased serum pyruvate, Hyperglutamatemia, Lacticaciduria, Hyperammonemia, Hy...	ORPHA:3008
Leishmaniasis	Hypoalbuminemia	ORPHA:507
Griscelli Syndrome Type 2	Hypopigmentation of hair, Partial albinism, Hyperlipidemia, Premature graying of hair, Iris hypop...	ORPHA:79477
Galloway-Mowat Syndrome 1	Cataract, Optic atrophy, Hypoplasia of the iris, Hypoalbuminemia, Opacification of the corneal st...	OMIM:251300
Very Long Chain Acyl-Coa Dehydrogenase Deficiency	Elevated circulating creatine kinase concentration, Increased circulating free fatty acid level, ...	ORPHA:26793
Fructose Intolerance, Hereditary	Transient aminoaciduria, Hyperphosphaturia, Bicarbonaturia, Proximal renal tubular acidosis, Hype...	OMIM:229600
Galactosemia I	Increased level of galactitol in plasma, Aminoaciduria, Albuminuria, Galactosuria, Hypergalactose...	OMIM:230400
Ermine Phenotype	White eyelashes, White eyebrow, Albinism, White hair, Spotty hyperpigmentation, Vitiligo	OMIM:227010
Nephrotic Syndrome, Type 11	Hypercholesterolemia, Hypoalbuminemia	OMIM:616730
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Abnormality of retinal pigmentation, Thick hair, Optic atrophy, Conjunctivitis, Long eyelashes, H...	ORPHA:505248
Mitochondrial Complex Iii Deficiency, Nuclear Type 6	Ketonuria, Hyperammonemia	OMIM:615453
Cln3 Disease	Cataract, Bull's eye maculopathy, Optic atrophy, Increased circulating androgen concentration, Pi...	ORPHA:228346
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria)	Death in infancy, Lacticaciduria, Methylmalonic aciduria, Hyperglycinemia, Death in childhood, Ne...	OMIM:245400
Chromosome Xp11.3 Deletion Syndrome	Pigmentary retinopathy, Rod-cone dystrophy, Optic atrophy, Attenuation of retinal blood vessels	OMIM:300578
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Alopecia, Hyperthyroidism, Abnormality of the endocrine system, Abnormal blood ion concentration,...	ORPHA:37042
Refractory Celiac Disease	Hypomagnesemia, Hypoalbuminemia, Hypocalcemia, Hypophosphatemia, Hypoproteinemia	ORPHA:398063
Classic Pantothenate Kinase-Associated Neurodegeneration	Optic disc pallor, Rod-cone dystrophy, Pigmentary retinopathy	ORPHA:216866
Classic Phenylketonuria	Hypopigmentation of hair, Cataract, Hypopigmentation of the skin, Hyperphenylalaninemia	ORPHA:79254
Wolcott-Rallison Syndrome	Hyponatremia, Neonatal insulin-dependent diabetes mellitus, Hyperammonemia, Central hypothyroidis...	ORPHA:1667
Infantile Nephropathic Cystinosis	Hyperphosphaturia, Abnormal blood ion concentration, Abnormal tubulointerstitial morphology, Rena...	ORPHA:411629
Rett Syndrome	Increased serum pyruvate, Bradykinesia, Abnormal autonomic nervous system physiology, Hyperammonemia	ORPHA:778
Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations	Abnormality of visual evoked potentials, Optic disc pallor, Abnormal auditory evoked potentials	OMIM:617523
Maple Syrup Urine Disease	Lethargy, Increased level of hippuric acid in urine, Elevated circulating branched chain amino ac...	OMIM:248600
Arthrogryposis, Distal, Type 5	Abnormality of retinal pigmentation, Retinal fold	OMIM:108145
Idiopathic Steroid-Resistant Nephrotic Syndrome	Hypercholesterolemia, Abnormal circulating lipid concentration, Hypoalbuminemia, Hypertriglycerid...	ORPHA:567548
Meningococcal Meningitis	Papilledema, Renal insufficiency, Lethargy, Elevated circulating C-reactive protein concentration	ORPHA:33475
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair	Decreased circulating cortisol level, Decreased response to growth hormone stimulation test, Adre...	OMIM:609734
3-Methylglutaconic Aciduria Type 4	3-Methylglutaconic aciduria, Iris hypopigmentation	ORPHA:67048
Mitochondrial Dna Depletion Syndrome 5 (Encephalomyopathic With Or Without Methylmalonic Aciduria)	Methylmalonic acidemia, Elevated circulating creatine kinase concentration, Methylmalonic aciduri...	OMIM:612073
Peroxisome Biogenesis Disorder 2A (Zellweger)	Brushfield spots, Optic nerve dysplasia, Pigmentary retinopathy, Aminoaciduria, Polycystic kidney...	OMIM:214110
Mucolipidosis Iii Alpha/Beta	Retinopathy, Retinal degeneration	OMIM:252600
Autoimmune Polyendocrinopathy Type 1	Hypoparathyroidism, Alopecia, Cataract, Abnormal fingernail morphology, Adrenal hyperplasia, Prim...	ORPHA:3453
Adult-Onset Autosomal Recessive Cerebellar Ataxia	Macular degeneration	ORPHA:284289
Avian Influenza	Hypoalbuminemia, Conjunctivitis, Elevated circulating creatine kinase concentration, Elevated cir...	ORPHA:454836
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 3	3-Methylglutaconic aciduria	OMIM:614053
Nephrotic Syndrome, Type 8	Hypoalbuminemia	OMIM:615244
Eosinophilic Gastroenteritis	Hypoalbuminemia, Elevated circulating C-reactive protein concentration	ORPHA:2070
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia	Hypoparathyroidism, Alopecia, Cataract, Female hypogonadism, Decreased circulating parathyroid ho...	OMIM:240300
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 2	Pigmentary retinopathy, Facial palsy	OMIM:613156
Cerebral Creatine Deficiency Syndrome 2	Decreased serum creatinine, Elevated circulating guanidinoacetic acid concentration	OMIM:612736
Aceruloplasminemia	Abnormality of retinal pigmentation, Decreased circulating ceruloplasmin concentration, Decreased...	ORPHA:48818
Hereditary Arterial And Articular Multiple Calcification Syndrome	Decreased serum creatinine	ORPHA:289601
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12	Retinal degeneration	OMIM:615249
Alg12-Cdg	Hyponatremia, Retinal detachment, Decreased serum insulin-like growth factor 1, Low posterior hai...	ORPHA:79324
Mitochondrial Complex Iv Deficiency, Nuclear Type 12	Neonatal death, Aminoaciduria, Hypoalbuminemia, Elevated circulating creatine kinase concentration	OMIM:619055
Immunodeficiency 32B	Hypoalbuminemia	OMIM:226990
Macrophage Activation Syndrome	Increased circulating ferritin concentration, Hypertriglyceridemia, Hypoalbuminemia, Elevated cir...	ORPHA:158061
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability	Retinal detachment, Cataract, Corneal opacity, Optic atrophy, Chorioretinal coloboma, Posterior e...	ORPHA:1473
Posterior Urethral Valve	Renal insufficiency, Recurrent urinary tract infections, Urinary incontinence, Dysuria, Fetal pye...	ORPHA:93110
Xfe Progeroid Syndrome	Optic atrophy, Hypoalbuminemia, Corneal scarring, Attenuation of retinal blood vessels	OMIM:610965
Generalized Pustular Psoriasis	Hyponatremia, Elevated circulating C-reactive protein concentration, Hypoalbuminemia, Hypocalcemi...	ORPHA:247353
3-Methylglutaconic Aciduria, Type V	Optic atrophy, 3-Methylglutaric aciduria, 3-Methylglutaconic aciduria, Hypospadias	OMIM:610198
Harderoporphyria	Increased urine harderoporphyrin level, Increased circulating ferritin concentration, Red urine, ...	OMIM:618892
Leigh Syndrome	Pigmentary retinopathy, Optic atrophy	OMIM:256000
Hyperinsulinism Due To Ucp2 Deficiency	Decreased circulating free fatty acid level, Lethargy, Increased C-peptide level	ORPHA:276556
Macrophthalmia, Colobomatous, With Microcornea	Optic disc coloboma, Macular atrophy, Chorioretinal coloboma	OMIM:602499
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia	Isothenuria, Nephrocalcinosis, Hypokalemia, Distal renal tubular acidosis, Lethargy	OMIM:611590
Combined Oxidative Phosphorylation Deficiency 37	Chorioretinal hyperpigmentation, Hyperalaninemia, Optic atrophy, Hypoalbuminemia	OMIM:618329
Pyruvate Dehydrogenase E2 Deficiency	Retinal degeneration	ORPHA:79244
Urocanase Deficiency	Urocanic aciduria	OMIM:276880
Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction	Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Optic atrophy	OMIM:268315
Familial Exudative Vitreoretinopathy	Macular exudate, Macular telangiectasia, Peripheral retinal avascularization, Rhegmatogenous reti...	ORPHA:891
Anterior Segment Dysgenesis 8	Iridodonesis, Cataract, Ectopia lentis, Uveal ectropion, Optic nerve dysplasia, Hypoplasia of the...	OMIM:617319
Hemolytic Anemia Due To Glutathione Reductase Deficiency	Cataract, Hyperbilirubinemia	OMIM:618660
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2	Lethargy	OMIM:613561
Fanconi Renotubular Syndrome 5	Proteinuria, Stage 5 chronic kidney disease, Glycosuria, Aminoaciduria, Hypophosphatemia, Hypopho...	OMIM:618913
Ménétrier Disease	Hypoproteinemia, Hypoalbuminemia	ORPHA:2494
Congenital Rubella Syndrome	Abnormality of retinal pigmentation	ORPHA:290
Autosomal Recessive Dopa-Responsive Dystonia	Bradykinesia, Lethargy	ORPHA:101150
Ermine Phenotype	Hypopigmentation of hair, Ocular albinism, Hypopigmented skin patches, Astigmatism, Irregular hyp...	ORPHA:999
Hemochromatosis, Type 4	Diabetes mellitus, Cataract, Increased circulating ferritin concentration, Elevated transferrin s...	OMIM:606069
Microphthalmia, Isolated 8	Retinal detachment, Retinal coloboma, Optic nerve hypoplasia, Hypoplastic optic chiasm	OMIM:615113
Nephronophthisis 11	Retinal degeneration	OMIM:613550
Peroxisomal Acyl-Coa Oxidase Deficiency	Abnormality of visual evoked potentials, Optic atrophy	ORPHA:2971
Urocanic Aciduria	Urocanic aciduria, Abnormal circulating histidine concentration	ORPHA:210128
Hydrops, Lactic Acidosis, And Sideroblastic Anemia	Hypoalbuminemia	OMIM:617021
Srd5A3-Cdg	Cataract, Optic disc hypoplasia, Decreased response to growth hormone stimulation test, Abnormal ...	ORPHA:324737
Liver Failure, Infantile, Transient	Hypoalbuminemia, Hyperbilirubinemia	OMIM:613070
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency	Decreased circulating free fatty acid level, Lethargy, Increased C-peptide level	ORPHA:276575
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency	Abnormal neuron branching, Hypoalbuminemia	ORPHA:367
Neuropathy, Hereditary Motor And Sensory, Type Via, With Optic Atrophy	Decreased motor nerve conduction velocity, Optic disc pallor, Optic atrophy, Abnormality of visua...	OMIM:601152
Severe Oculo-Renal-Cerebellar Syndrome	Abnormal retinal vascular morphology, Abnormality of retinal pigmentation, Optic atrophy, Hypopig...	ORPHA:2715
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy	Hypoproteinemia, Hypothyroidism, Hypoalbuminemia	OMIM:226300
Congenital Analbuminemia	Hyperlipidemia, Increased alpha-globulin, Hypoalbuminemia, Hypercholesterolemia, Hypoproteinemia	ORPHA:86816
Cystinosis	Renal insufficiency, Proteinuria, Renal tubular dysfunction, Hypokalemia, Aminoaciduria, Hypophos...	ORPHA:213
Mitochondrial Dna Depletion Syndrome 13 (Encephalomyopathic Type)	Renal tubular acidosis, Hyperalaninemia, Hypospadias, Hyperammonemia	OMIM:615471
Mitochondrial Dna Depletion Syndrome 12A (Cardiomyopathic Type), Autosomal Dominant	Neonatal death, Death in infancy, Organic aciduria	OMIM:617184
Refractory Anemia With Excess Blasts	Abnormal circulating protein concentration, Abnormal circulating albumin concentration, Retinal h...	ORPHA:86839
Vici Syndrome	Abnormality of retinal pigmentation, Optic atrophy, Hypopigmentation of the skin, Abnormal macula...	ORPHA:1493
Infantile Liver Failure Syndrome 3	Hyperammonemia, Death in childhood	OMIM:618641
Squalene Synthase Deficiency	Optic nerve hypoplasia, Increased circulating farnesol concentration, Abnormality of hair pigment...	OMIM:618156
Hyperinsulinism Due To Hnf1A Deficiency	Decreased circulating free fatty acid level, Lethargy, Increased C-peptide level	ORPHA:324575
Familial Hypoaldosteronism	Hyponatremia, Orthostatic hypotension, Decreased urinary potassium, Renal salt wasting, Hyperkale...	ORPHA:427
Neurodegeneration With Brain Iron Accumulation 2A	Decreased nerve conduction velocity, Optic atrophy, Abnormality of visual evoked potentials	OMIM:256600
Parkinsonism-Dystonia 2, Infantile-Onset	Elevated urinary homovanillic acid, Abnormal autonomic nervous system physiology	OMIM:618049
Mitochondrial Complex I Deficiency, Nuclear Type 9	Neonatal death, Lethargy	OMIM:618232
Glutamate-Cysteine Ligase Deficiency	Aminoaciduria	ORPHA:33574
Genetic Steroid-Resistant Nephrotic Syndrome	Hypoalbuminemia	ORPHA:656
Joubert Syndrome 8	Optic disc pallor, Pigmentary retinopathy	OMIM:612291
Fanconi-Bickel Syndrome	Hyperphosphaturia, Ketonuria, Hypouricemia, Proteinuria, Generalized aminoaciduria, Hypercalciuri...	OMIM:227810
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13	Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation	ORPHA:411515
Joubert Syndrome 3	Pigmentary retinopathy, Retinal dystrophy	OMIM:608629
Hemophagocytic Lymphohistiocytosis, Familial, 2	Hyponatremia, Hypertriglyceridemia, Increased circulating ferritin concentration, Hypoalbuminemia...	OMIM:603553
Aicardi-Goutieres Syndrome 9	Hypothyroidism, Optic atrophy, Chorioretinal atrophy, Hypoalbuminemia	OMIM:619487
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11	Retinal detachment, Cataract, Optic nerve hypoplasia, Elevated circulating creatine kinase concen...	OMIM:615181
Idiopathic Congenital Hypothyroidism	Lethargy, Neonatal hyperbilirubinemia	ORPHA:95717
Tubulointerstitial Nephritis And Uveitis Syndrome	Renal lymphocytic tubulitis, Choroidal neovascularization, Elevated circulating C-reactive protei...	ORPHA:91500
Congenital Bile Acid Synthesis Defect Type 4	Cataract, Elevated circulating creatine kinase concentration, Pigmentary retinopathy, Hypogonadis...	ORPHA:79095
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy	Duplicated collecting system, Conjugated hyperbilirubinemia, Hyperammonemia, Decreased serum zinc...	OMIM:617093
Hyperphenylalaninemia, Bh4-Deficient, B	Lethargy, Hyperphenylalaninemia	OMIM:233910
Coats Disease	Exudative retinal detachment, Retinal telangiectasia	OMIM:300216
Piebald Trait	Absent pigmentation of the ventral chest, Partial albinism, Aganglionic megacolon, Piebaldism, Wh...	OMIM:172800
Nephronophthisis 2	Absence of renal corticomedullary differentiation, Elevated circulating creatinine concentration,...	OMIM:602088
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome	Lethargy	ORPHA:276608
Micro Syndrome	Abnormality of visual evoked potentials, Abnormality of retinal pigmentation, Optic atrophy, Reti...	ORPHA:2510
Ataxia-Telangiectasia	Hypopigmentation of hair, Diabetes mellitus, Premature graying of hair, Type II diabetes mellitus...	ORPHA:100
Oligomeganephronia	Renal insufficiency, Proteinuria, Unilateral renal agenesis, Abnormal renal cortex morphology, Gl...	ORPHA:2260
Axial Spondylometaphyseal Dysplasia	Optic atrophy, Rod-cone dystrophy, Retinal dystrophy, Peripheral retinal degeneration	ORPHA:168549
Hereditary Bullous Dystrophy, Macular Type	Alopecia, Cataract, Corneal opacity, Congenital abnormal hair pattern, Spotty hypopigmentation, A...	ORPHA:1867
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)	Elevated circulating alpha-fetoprotein concentration, Hypoalbuminemia, Generalized aminoaciduria,...	OMIM:251880
Maternal Uniparental Disomy Of Chromosome 2	Renal insufficiency, Hypospadias, Miscarriage, Elevated amniotic fluid alpha-fetoprotein, Chordee...	ORPHA:96179
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 2	Hypoalbuminemia	OMIM:614441
Multiple Sulfatase Deficiency	Abnormality of retinal pigmentation, Cataract, Corneal opacity, Optic atrophy, Coarse hair, Abnor...	ORPHA:585
Congenital Hyperinsulinism Due To Hnf4A Deficiency	Proteinuria, Abnormal circulating fatty-acid concentration, Renal Fanconi syndrome, Glycosuria, H...	ORPHA:263455
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency	Lethargy, Increased C-peptide level	ORPHA:276580
Benign Samaritan Congenital Myopathy	Lethargy	ORPHA:324581
Exfoliation Syndrome	Cataract, Abnormal lens morphology, Anisocoria, Pseudoexfoliation, Retinal vein occlusion, Pigmen...	OMIM:177650
Familial Hemophagocytic Lymphohistiocytosis	Increased circulating ferritin concentration, Hypertriglyceridemia, Hypoalbuminemia	ORPHA:540
Hepatoportal Sclerosis	Hypoalbuminemia, Hyperbilirubinemia	ORPHA:64743
Combined Oxidative Phosphorylation Deficiency 27	Hyperammonemia	OMIM:616672
Primary Biliary Cholangitis	Orthostatic hypotension, Conjugated hyperbilirubinemia, Abnormality of the thyroid gland, Hypoalb...	ORPHA:186
Carnitine Palmitoyl Transferase 1A Deficiency	Renal tubular acidosis, Lethargy, Transient hyperlipidemia	ORPHA:156
Lowry-Wood Syndrome	Abnormality of retinal pigmentation	ORPHA:1824
Hennekam Lymphangiectasia-Lymphedema Syndrome 1	Hypoalbuminemia, Hirsutism, Thyroid lymphangiectasia	OMIM:235510
Albinism, Oculocutaneous, Type Ia	Hypoplasia of the fovea, Hypopigmentation of hair, Albinism, Absent skin pigmentation, White hair...	OMIM:203100
Marburg Hemorrhagic Fever	Renal insufficiency, Elevated circulating creatine kinase concentration, Hyperamylasemia, Elevate...	ORPHA:99826
Retinitis Pigmentosa With Or Without Skeletal Anomalies	Hypoautofluorescent retinal lesion, Cafe-au-lait spot, Rod-cone dystrophy, Retinal degeneration	OMIM:250410
Acrodysostosis 2 With Or Without Hormone Resistance	Diabetes mellitus, Blue irides, Congenital hypothyroidism, Red hair, Fair hair	OMIM:614613
Alstrom Syndrome	Cone/cone-rod dystrophy, Decreased HDL cholesterol concentration, Alopecia, Hypertriglyceridemia,...	OMIM:203800
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome	Pigmentary retinopathy, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Abnormal sen...	ORPHA:88628
Primary Hyperoxaluria	Hyperoxaluria, Optic disc pallor, Choroidal neovascularization, Aciduria, Calcium oxalate nephrol...	ORPHA:416
Cystinosis, Nephropathic	Aminoaciduria, Renal Fanconi syndrome, Low-molecular-weight proteinuria, Hypophosphatemic rickets...	OMIM:219800
Mitochondrial Complex Iv Deficiency, Nuclear Type 4	Hyperalaninemia, Decreased plasma free carnitine, Increased urine succinate level	OMIM:619048
Congenital Disorder Of Glycosylation, Type Ig	Retinal detachment, Hypospadias, Hypocalcemia, Lethargy, Micropenis	OMIM:607143
Primary Intestinal Lymphangiectasia	Hypoproteinemia, Hypoalbuminemia, Hypocalcemia, Hypomagnesemia	ORPHA:90362
Fanconi Renotubular Syndrome 2	Renal insufficiency, Proteinuria, Hypercalciuria, Generalized aminoaciduria, Renal phosphate wast...	OMIM:613388
Congenital Disorder Of Glycosylation, Type Ia	Hypergonadotropic hypogonadism, Hypoalbuminemia, Hypocholesterolemia, Rod-cone dystrophy, Hypothy...	OMIM:212065
Ectopia Lentis Et Pupillae	Retinal detachment, Iris transillumination defect	OMIM:225200
Sialidosis Type 1	Urinary excretion of sialylated oligosaccharides, Decreased nerve conduction velocity, Increased ...	ORPHA:812
Diarrhea 10, Protein-Losing Enteropathy Type	Hyponatremia, Hypertriglyceridemia, Elevated circulating thyroid-stimulating hormone concentratio...	OMIM:618183
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia	Polyuria, Mottled pigmentation of photoexposed areas, Death in adolescence, Pigmentary retinopath...	OMIM:560000
Peroxisome Biogenesis Disorder 5A (Zellweger)	Death in infancy, Hypospadias, Conjugated hyperbilirubinemia, Brushfield spots, Optic nerve dyspl...	OMIM:614866
Molybdenum Cofactor Deficiency, Complementation Group C	Hypouricemia, Increased urinary taurine, Hypertaurinemia, Neonatal death, Hypocystinemia	OMIM:615501
Keratosis Follicularis Spinulosa Decalvans, Autosomal Dominant	Alopecia, Cataract, Sparse eyelashes, Keratitis, Scarring alopecia of scalp, Sparse eyebrow, Conj...	OMIM:612843
Pseudoxanthoma Elasticum	Choroidal neovascularization, Retinal hemorrhage, Angioid streaks of the fundus, Optic disc druse...	OMIM:264800
Mitochondrial Complex Iv Deficiency, Nuclear Type 19	Bradykinesia, Lacticaciduria, Hyperglycinemia	OMIM:619063
Arthrogryposis, Renal Dysfunction, And Cholestasis 2	Death in infancy, Proteinuria, Conjugated hyperbilirubinemia, Nephrocalcinosis, Renal tubular aci...	OMIM:613404
Juvenile Nephropathic Cystinosis	Hyponatremia, Low-molecular-weight proteinuria, Renal insufficiency, Hypouricemia, Proteinuria, C...	ORPHA:411634
Hereditary Central Diabetes Insipidus	Lethargy	ORPHA:30925
Combined Malonic And Methylmalonic Aciduria	Methylmalonic aciduria	OMIM:614265
Bacterial Toxic-Shock Syndrome	Hypoalbuminemia, Hypocalcemia, Elevated circulating creatinine concentration, Elevated circulatin...	ORPHA:36234
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2	Renal cortical atrophy, Impaired renal uric acid clearance, Tubular basement membrane disintegrat...	OMIM:174000
Wilson Disease	Hypoparathyroidism, Decreased circulating ceruloplasmin concentration, Hypouricemia, Decreased ne...	OMIM:277900
Central Neurocytoma	Lethargy, Depression	ORPHA:73256
Leigh Syndrome	Optic atrophy, Lacticaciduria, Generalized aminoaciduria, Methylmalonic aciduria, Renal tubular d...	ORPHA:506
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young	Hyperphosphaturia, Proteinuria, Hypouricemia, Nephrocalcinosis, Glycosuria, Aminoaciduria, Hypoph...	OMIM:616026
Developmental And Epileptic Encephalopathy 41	Nephrocalcinosis, Lethargy	OMIM:617105
Porphyria Due To Ala Dehydratase Deficiency	Hyponatremia, Abnormal circulating porphyrin concentration, Depression, Increased urinary porphob...	ORPHA:100924
Congenital Enterovirus Infection	Hypoalbuminemia, Hyperammonemia	ORPHA:292
Hermansky-Pudlak Syndrome 3	Hypopigmentation of hair, Hypopigmentation of the skin, Albinism	OMIM:614072
Hereditary Coproporphyria	Hyponatremia, Dark urine, Abnormal circulating porphyrin concentration, Porphyrinuria, Increased ...	ORPHA:79273
Deaf Blind Hypopigmentation Syndrome, Yemenite Type	Hypopigmentation of hair, Hypopigmented skin patches, Microcornea, Anterior synechiae of the ante...	ORPHA:3214
Mulibrey Nanism	Pigmentary retinopathy	OMIM:253250
Pantothenate Kinase-Associated Neurodegeneration	Bull's eye maculopathy, Optic atrophy, Pigmentary retinopathy, Retinal flecks, Rod-cone dystrophy...	ORPHA:157850
Holoprosencephaly-Craniosynostosis Syndrome	Abnormality of retinal pigmentation	ORPHA:2163
Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome	3-Methylglutaconic aciduria, Optic atrophy, Optic nerve hypoplasia	ORPHA:496790
Ethylmalonic Encephalopathy	Retinal vascular tortuosity, Ethylmalonic aciduria	ORPHA:51188
Werner Syndrome	Retinal degeneration	OMIM:277700
Mitochondrial Myopathy, Episodic, With Or Without Optic Atrophy And Reversible Leukoencephalopathy	Ketonuria, Elevated circulating creatine kinase concentration, Optic atrophy, Highly elevated cre...	OMIM:251900
Dent Disease 1	Renal insufficiency, Hyperphosphaturia, Chronic kidney disease, Stage 5 chronic kidney disease, N...	OMIM:300009
Dermotrichic Syndrome	Aminoaciduria, Aganglionic megacolon	ORPHA:99688
Cardiomyopathy, Dilated, 1Ii	Cataract, Elevated circulating creatine kinase concentration	OMIM:615184
Mepan Syndrome	Abnormality of visual evoked potentials, Optic atrophy	ORPHA:508093
Refsum Disease	Abnormality of retinal pigmentation, Retinopathy	ORPHA:773
Multiple Sulfatase Deficiency	Retinal degeneration	OMIM:272200
Cyclic Vomiting Syndrome	Lethargy	OMIM:500007
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome	Cone/cone-rod dystrophy, Abnormality of retinal pigmentation, Retinal atrophy, Retinal thinning, ...	ORPHA:85167
Mitochondrial Complex Iv Deficiency, Nuclear Type 2	Increased serum pyruvate, Lethargy, Death in infancy	OMIM:604377
Pyruvate Dehydrogenase Phosphatase Deficiency	Hyperalaninemia, Lacticaciduria, Hyperprolinemia	ORPHA:79246
Autosomal Recessive Spastic Paraplegia Type 11	Orthostatic hypotension, Abnormality of pattern visual evoked potentials, Retinal degeneration	ORPHA:2822
Mff-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect	Decreased nerve conduction velocity, Optic disc pallor, Optic atrophy, Abnormality of visual evok...	ORPHA:485421
Mitochondrial Trifunctional Protein Deficiency	Pigmentary retinopathy, Hypocalcemia, Lethargy	ORPHA:746
Senior-Loken Syndrome 8	Rod-cone dystrophy, Retinal dystrophy, Macular atrophy	OMIM:616307
Autosomal Recessive Palmoplantar Keratoderma And Congenital Alopecia	Nail dystrophy, Cataract, Alopecia totalis	ORPHA:1366
Al Amyloidosis	Increased circulating NT-proBNP concentration, Hypoalbuminemia, Abnormal autonomic nervous system...	ORPHA:85443
Fumarase Deficiency	Increased urine succinate level, Bilateral fetal pyelectasis, Optic atrophy, Elevated urine fumar...	OMIM:606812
Crigler-Najjar Syndrome	Lethargy	ORPHA:205
Hypertrophic Cardiomyopathy With Kidney Anomalies Due To Mitochondrial Dna Mutation	Elevated circulating creatine kinase concentration, Chronic kidney disease, Renal tubular acidosi...	ORPHA:324525
Cholera	Hyponatremia, Abnormality of renal excretion, Miscarriage, Abnormal blood ion concentration, Hypo...	ORPHA:173
Brittle Cornea Syndrome 1	Keratoconus, Keratoglobus, Abnormal cornea morphology, Decreased corneal thickness, Red hair	OMIM:229200
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly	Retinal pigment epithelial mottling	OMIM:617102
Dent Disease	Renal insufficiency, Hyperphosphaturia, Renal hypophosphatemia, Elevated circulating creatine kin...	ORPHA:1652
Methylcobalamin Deficiency Type Cble	Hypomethioninemia, Glomerulopathy, Hemolytic-uremic syndrome, Hyperhomocystinemia, Lethargy	ORPHA:2169
Acquired Hypertrichosis Lanuginosa	Abnormal eyebrow morphology, Hypopigmentation of hair, Generalized hirsutism, Fine hair	ORPHA:2221
X-Linked Intellectual Disability-Limb Spasticity-Retinal Dystrophy-Diabetes Insipidus Syndrome	Optic disc pallor, Retinal dystrophy, Macular coloboma, Undetectable visual evoked potentials, Ap...	ORPHA:423479
Carney Complex, Type 1	Elevated circulating growth hormone concentration, Pituitary adenoma, Multiple lentigines, Pheoch...	OMIM:160980
Neuroblastoma, Susceptibility To, 1	Elevated urinary catecholamine level, Elevated urinary dopamine level, Horner syndrome, Abnormali...	OMIM:256700
Classic Galactosemia	Lethargy, Depression	ORPHA:79239
Isolated Succinate-Coq Reductase Deficiency	Pigmentary retinopathy	ORPHA:3208
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease	Renal insufficiency, Recurrent urinary tract infections, Elevated circulating alpha-fetoprotein c...	OMIM:613095
Methylmalonic Acidemia With Homocystinuria Type Cblf	Hypomethioninemia, Unilateral renal agenesis, Methylmalonic aciduria, Elevated circulating palmit...	ORPHA:79284
3-Methylglutaconic Aciduria, Type Iv	3-Methylglutaric aciduria	OMIM:250951
Methylmalonyl-Coa Epimerase Deficiency	Ketonuria, Elevated circulating palmitoleylcarnitine concentration, Methylmalonic aciduria, Hyper...	OMIM:251120
Familial Thyroid Dyshormonogenesis	Lethargy, Abnormal circulating thyroglobulin level, Neonatal hyperbilirubinemia	ORPHA:95716
Cerebral Arteriopathy, Autosomal Dominant, With Subcortical Infarcts And Leukoencephalopathy, Type 1	Abnormality of visual evoked potentials, Nonarteritic anterior ischemic optic neuropathy	OMIM:125310
Susac Syndrome	Lethargy, Apathy	ORPHA:838
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome	Sparse scalp hair, Sparse eyelashes, Sparse eyebrow, Fine hair, Onycholysis, Nail dystrophy, Hypo...	OMIM:614748
Alport Syndrome	Glomerular C3 deposition, Renal insufficiency, Glomerular basement membrane lamellation, IgA depo...	ORPHA:63
Thyroid Dyshormonogenesis 1	Lethargy	OMIM:274400
Autosomal Dominant Keratitis	Hypoplasia of the fovea, Cataract, Keratitis, Abnormal corneal limbus morphology, Microcornea, Ma...	ORPHA:2334
Ectodermal Dysplasia-Blindness Syndrome	Cataract, Abnormal fingernail morphology, Corneal dystrophy, Sclerocornea, Fine hair, Abnormality...	ORPHA:1806
Hereditary Mucoepithelial Dysplasia	Alopecia, Cataract, Corneal dystrophy, Fine hair, Sparse hair	ORPHA:1839
Autosomal Dominant Polycystic Kidney Disease	Renal insufficiency, Recurrent urinary tract infections, Chronic kidney disease, Elevated circula...	ORPHA:730
Bardet-Biedl Syndrome 1	Bone spicule pigmentation of the retina, Retinal dystrophy, Aganglionic megacolon, Hyperautofluor...	OMIM:209900
Wolfram Syndrome 1	Pigmentary retinopathy, Optic atrophy	OMIM:222300
Brown-Vialetto-Van Laere Syndrome 2	Organic aciduria, Optic atrophy, Facial palsy	OMIM:614707
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6	Pigmentary retinopathy, Optic atrophy, Retinal dysplasia	OMIM:613154
Achalasia-Addisonianism-Alacrima Syndrome	Orthostatic hypotension, Optic atrophy, Abnormal autonomic nervous system physiology, Abnormality...	OMIM:231550
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome	Pigmentary retinopathy, Rod-cone dystrophy	ORPHA:2235
Mohr-Tranebjaerg Syndrome	Abnormality of visual evoked potentials, Absent brainstem auditory responses, Optic atrophy, Abno...	ORPHA:52368
Pseudoxanthoma Elasticum, Forme Fruste	Macular degeneration, Retinal hemorrhage, Angioid streaks of the fundus	OMIM:177850
Waardenburg Syndrome	Abnormal eyebrow morphology, Hypopigmentation of hair, Aganglionic megacolon, Synophrys, Hypopigm...	ORPHA:3440
Isolated Complex I Deficiency	Increased serum pyruvate, Optic disc pallor, Optic neuropathy, Proximal tubulopathy, Lethargy	ORPHA:2609
Incontinentia Pigmenti	Ridged nail, Abnormality of skin pigmentation, Coarse hair, Sparse hair, Atrophic, patchy alopeci...	OMIM:308300
Pelizaeus-Merzbacher Disease	Abnormality of visual evoked potentials, Optic atrophy	ORPHA:702
Xeroderma Pigmentosum, Complementation Group B	Decreased nerve conduction velocity, Pigmentary retinopathy, Freckling, Optic atrophy	OMIM:610651
Autosomal Recessive Spastic Paraplegia Type 44	Abnormality of visual evoked potentials, Abnormal auditory evoked potentials, Abnormality of soma...	ORPHA:320401
Porphyria Variegata	Hyponatremia, Neurogenic bladder, Abnormal circulating porphyrin concentration, Chronic kidney di...	ORPHA:79473
Dystonia, Childhood-Onset, With Optic Atrophy And Basal Ganglia Abnormalities	Optic disc pallor, Optic atrophy, Pigmentary retinopathy	OMIM:617282
Lowry-Wood Syndrome	Pigmentary retinopathy	OMIM:226960
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome	Multiple cafe-au-lait spots, Abnormality of retinal pigmentation, Melanocytic nevus, Generalized ...	ORPHA:1969
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1	Increased circulating ferritin concentration, Pigmentary retinopathy, Delayed puberty, Hypopituit...	OMIM:600462
Autosomal Recessive Cerebellar Ataxia Due To Stub1 Deficiency	Retinal atrophy	ORPHA:412057
Werner Syndrome	Abnormality of retinal pigmentation, Sparse scalp hair, Cataract, Abnormal hair whorl, Premature ...	ORPHA:902
Myopathy, Mitochondrial, And Ataxia	Hyperthyroidism, Thick hair, Elevated circulating creatine kinase concentration, Pigmentary retin...	OMIM:617675
Friedreich Ataxia	Abnormality of visual evoked potentials, Decreased sensory nerve conduction velocity, Optic atrop...	OMIM:229300
Sympathetic Ophthalmia	Papilledema, Retinal detachment, Cataract, Alopecia, Vitreous floaters, Poliosis, Vitritis, Retin...	ORPHA:79098
Transcobalamin Deficiency	Acute kidney injury, Methylmalonic aciduria	ORPHA:859
Thrombotic Thrombocytopenic Purpura, Hereditary	Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, Increased ...	OMIM:274150
Primary Fanconi Renotubular Syndrome	Low-molecular-weight proteinuria, Hypouricemia, Increased urinary potassium, Chronic kidney disea...	ORPHA:3337
Symptomatic Form Of Hfe-Related Hemochromatosis	Increased circulating ferritin concentration, Elevated transferrin saturation, Apathy, Abnormalit...	ORPHA:465508
Mitochondrial Myopathy-Cerebellar Ataxia-Pigmentary Retinopathy Syndrome	Optic disc pallor, Hyperthyroidism, Thick hair, Pigmentary retinopathy, Mildly elevated creatine ...	ORPHA:502423
Mitochondrial Complex I Deficiency, Nuclear Type 1	3-hydroxydicarboxylic aciduria, Optic disc pallor, Death in infancy, Hypospadias, Optic neuropath...	OMIM:252010
Xq12-Q13.3 Duplication Syndrome	Abnormality of visual evoked potentials, Optic disc pallor	ORPHA:314389
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes	Alopecia, Cataract, Hypomagnesemia, Hypokalemia, Nail dystrophy, Nail dysplasia, Hypocalcemia, Hy...	OMIM:175500
Hypoparathyroidism, Familial Isolated, 1	Hypoparathyroidism, Cataract, Decreased circulating parathyroid hormone level, Hyperphosphatemia,...	OMIM:146200
Histidinemia	Histidinuria, Hyperhistidinemia	ORPHA:2157
Liver Disease, Severe Congenital	Hyponatremia, Recurrent urinary tract infections, Hypospadias, Elevated circulating alpha-fetopro...	OMIM:619991
Cohen Syndrome	Bone spicule pigmentation of the retina, Optic atrophy, Chorioretinal dystrophy, Bull's eye macul...	OMIM:216550
Bardet-Biedl Syndrome	Pigmentary retinopathy	ORPHA:110
Brittle Cornea Syndrome	Retinal detachment, Corneal dystrophy, Corneal erosion, Abnormality of hair pigmentation, Corneal...	ORPHA:90354
Maternal Uniparental Disomy Of Chromosome 4	Neurogenic bladder, Abetalipoproteinemia, Elevated circulating creatine kinase concentration, Opt...	ORPHA:96180
Ifap Syndrome 2	Cataract, Keratitis, Keratoconjunctivitis sicca, Nail dystrophy, Atrichia, Sparse hair	OMIM:619016
Multifocal Atrial Tachycardia	Lethargy	ORPHA:3282
Waardenburg Syndrome, Type 2E	White eyelashes, White eyebrow, Blue irides, Hypopigmented skin patches, Ocular albinism, Prematu...	OMIM:611584
Cerebellar Atrophy, Visual Impairment, And Psychomotor Retardation	Abnormality of visual evoked potentials, Optic atrophy	OMIM:616875
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly	Death in infancy, Renal insufficiency, Proteinuria, Conjugated hyperbilirubinemia, Chronic kidney...	OMIM:208500
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy	3-Methylglutaconic aciduria, Optic atrophy, Depression	OMIM:619259
Dahlberg-Borer-Newcomer Syndrome	Hypoparathyroidism, Cataract, Hypocalcemia, Anonychia, Hypothyroidism, Generalized hirsutism	ORPHA:1563
Cirrhosis, Familial	Increased level of propylene glycol in blood, Lethargy, Increased level of L-fucose in urine	OMIM:215600
Peroxisome Biogenesis Disorder 1A (Zellweger)	Optic disc pallor, Hypospadias, Brushfield spots, Pigmentary retinopathy, Aminoaciduria, Albuminu...	OMIM:214100
Sengers Syndrome	3-Methylglutaconic aciduria	OMIM:212350
Pyruvate Dehydrogenase Deficiency	Lethargy	ORPHA:765
Global Developmental Delay-Visual Anomalies-Progressive Cerebellar Atrophy-Truncal Hypotonia Syndrome	Abnormality of visual evoked potentials, Optic atrophy, Vitiligo	ORPHA:480898
Galloway-Mowat Syndrome 3	Hypoalbuminemia	OMIM:617729
Aniridia 2	Cataract, Optic atrophy, Lens subluxation, Aniridia, Iris coloboma	OMIM:617141
Mannosidosis, Alpha B, Lysosomal	Retinal degeneration	OMIM:248500
Premature Aging Syndrome, Okamoto Type	Abnormal hair morphology, Diabetes mellitus, Cataract	OMIM:601811
Secondary Intestinal Lymphangiectasia	Reduced circulating transferrin concentration, Hypoalbuminemia, Hypocholesterolemia, Decreased pr...	ORPHA:90363
Malonyl-Coa Decarboxylase Deficiency	Elevated urine suberic acid level, Methylmalonic aciduria	OMIM:248360
Hermansky-Pudlak Syndrome 11	Hypoplasia of the fovea, Albinism, Ocular albinism, Melanocytic nevus, Iris transillumination def...	OMIM:619172
Kearns-Sayre Syndrome	Pigmentary retinopathy	OMIM:530000
Typhoid	Lethargy	ORPHA:99745
Amoebiasis Due To Entamoeba Histolytica	Hypoalbuminemia	ORPHA:67
Mitochondrial Complex I Deficiency, Nuclear Type 26	Rod-cone dystrophy, Lacticaciduria	OMIM:618247
Infantile Neuroaxonal Dystrophy	Abnormality of visual evoked potentials, Optic atrophy, Abnormal autonomic nervous system physiol...	ORPHA:35069
Fructose-1,6-Bisphosphatase Deficiency	Lethargy, Increased urinary glycerol	OMIM:229700
Trichothiodystrophy 1, Photosensitive	Cataract, Brittle hair, Trichoschisis, Fine hair, Microcornea, Keratoconjunctivitis sicca, Fragil...	OMIM:601675
Mitochondrial Complex Ii Deficiency, Nuclear Type 3	Neonatal death, Optic disc pallor, Ketonuria, Lacticaciduria	OMIM:619167
Peroxisome Biogenesis Disorder 13A (Zellweger)	Conjugated hyperbilirubinemia, Dicarboxylic aciduria, Neonatal death, Increased circulating very ...	OMIM:614887
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type	Hypopigmentation of hair	ORPHA:70472
Hermansky-Pudlak Syndrome 1	Hypopigmentation of hair, Freckles in sun-exposed areas, Albinism, Ocular albinism, Melanocytic n...	OMIM:203300
Trichinellosis	Facial palsy, Retinal hemorrhage, Central retinal artery occlusion, Abnormal optic nerve morpholo...	ORPHA:863
Mevalonic Aciduria	Optic disc pallor, Elevated circulating creatine kinase concentration, Elevated circulating C-rea...	OMIM:610377
Histidinemia	Histidinuria, Hyperhistidinemia	OMIM:235800
Waardenburg Syndrome, Type 4C	White eyelashes, White eyebrow, Aganglionic megacolon, Blue irides, Hypopigmented skin patches, P...	OMIM:613266
Late-Onset Isolated Acth Deficiency	Hyponatremia, Orthostatic hypotension, Hypercalcemia, Hyperkalemia, Hyperuricemia, Lethargy, Viti...	ORPHA:199299
Fuchs Heterochromic Iridocyclitis	Anterior chamber inflammatory cells, Papilledema, Optic disc pallor, Iris atrophy, Cataract, Reti...	ORPHA:263479
Sporadic Adult-Onset Ataxia Of Unknown Etiology	Macular degeneration, Abnormal autonomic nervous system physiology, Abnormal cranial nerve morpho...	ORPHA:247234
Sim1-Related Prader-Willi-Like Syndrome	Hypopigmentation of hair, Chorioretinal hypopigmentation, Lethargy, Micropenis, Hypopigmentation ...	ORPHA:398079
Neuromuscular Oculoauditory Syndrome	Decreased nerve conduction velocity, Chorioretinal lacunae, Decreased amplitude of sensory action...	OMIM:618733
Hereditary Fructose Intolerance	Renal insufficiency, Chronic kidney disease, Hypermagnesemia, Hyperuricemia, Hypophosphatemia, Le...	ORPHA:469
Prolidase Deficiency	Abnormality of retinal pigmentation, Abnormal fingernail morphology, Low anterior hairline, White...	ORPHA:742
Norrie Disease	Retinal detachment, Cataract, Corneal opacity, Optic atrophy, Leukocoria, Hypoplasia of the iris,...	OMIM:310600
Evans Syndrome	Lethargy	ORPHA:1959
Dilated Cardiomyopathy With Ataxia	Hypoplasia of penis, Optic atrophy, Perineal hypospadias, 3-Methylglutaconic aciduria, Elevated c...	ORPHA:66634
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3	Retinal atrophy, Optic atrophy, Hypoplasia of the retina, Retinal dysplasia, Enlarged flash visua...	OMIM:253280
Scrub Typhus	Lethargy, Renal insufficiency	ORPHA:83317
Dengue Fever	Lethargy, Hypoproteinemia	ORPHA:99828
Kniest Dysplasia	Retinal detachment, Rhegmatogenous retinal detachment, Lattice retinal degeneration, Vitreoretino...	ORPHA:485
Combined D-2- And L-2-Hydroxyglutaric Aciduria	Increased urine alpha-ketoglutarate concentration, L-2-hydroxyglutaric aciduria, Increased urine ...	OMIM:615182
Pearson Marrow-Pancreas Syndrome	Hypercalciuria, 3-Methylglutaric aciduria, Renal Fanconi syndrome, Complex organic aciduria, Hype...	OMIM:557000
Juvenile Polyposis Syndrome	Hypokalemia, Hypoalbuminemia	OMIM:174900
Chromosome 6Pter-P24 Deletion Syndrome	Pigmentary retinopathy, Frontal upsweep of hair, Axenfeld anomaly, Opacification of the corneal s...	OMIM:612582
Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency	Aminoaciduria, Ketonuria	OMIM:614520
Cancer-Associated Retinopathy	Optic disc pallor, Retinal atrophy, Retinal pigment epithelial atrophy, Foveal hyporeflective spa...	ORPHA:71505
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15	Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation	ORPHA:98795
Multiple Endocrine Neoplasia, Type Iia	Aganglionic megacolon, Elevated urinary norepinephrine level, Elevated urinary dopamine level, El...	OMIM:171400
Knobloch Syndrome	Retinal detachment, Macular degeneration, Vitreoretinopathy, Abnormal vitreous humor morphology	ORPHA:1571
Muscle-Eye-Brain Disease With Bilateral Multicystic Leucodystrophy	Buphthalmos, Cataract, Retinal dystrophy, Elevated circulating creatine kinase concentration	ORPHA:370997
Oculoauricular Syndrome	Cone/cone-rod dystrophy, Retinal detachment, Posterior embryotoxon, Cataract, Morning glory anoma...	OMIM:612109
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance	Hyperlipidemia, Hypoalbuminemia	ORPHA:567546
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic	Optic atrophy, Low plasma citrulline, Renal steatosis, Ketonuria	OMIM:261680
Hurler Syndrome	Heparan sulfate excretion in urine, Urinary glycosaminoglycan excretion, Dermatan sulfate excreti...	OMIM:607014
Leukodystrophy, Hypomyelinating, 4	Ethylmalonic aciduria	OMIM:612233
Vici Syndrome	Hypopigmentation of hair, Cataract, Macular atrophy, Elevated circulating creatine kinase concent...	OMIM:242840
Insulinoma	Lethargy	ORPHA:97279
Pseudo-Torch Syndrome 2	Lethargy, Abnormal renal corticomedullary differentiation	OMIM:617397
Metachromatic Leukodystrophy, Late Infantile Form	Decreased nerve conduction velocity, Optic atrophy, Abnormality of visual evoked potentials	ORPHA:309256
Hermansky-Pudlak Syndrome 8	Hypoplasia of the fovea, Optic disc pallor, Albinism, Silver-gray hair, Myopic astigmatism, Blue ...	OMIM:614077
Neurodegeneration And Seizures Due To Copper Transport Defect	Lethargy, Glandular hypospadias, Abnormal circulating ceruloplasmin concentration, Abnormal circu...	OMIM:620306
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure	Hypoalbuminemia	OMIM:254900
Succinyl-Coa:3-Oxoacid-Coa Transferase Deficiency	Elevated urinary 3-hydroxybutyric acid, Ketonuria	OMIM:245050
Gyrate Atrophy Of Choroid And Retina	Posterior subcapsular cataract, Foveoschisis, Chorioretinal atrophy, Hyperornithinemia, Macular t...	OMIM:258870
Cohen Syndrome	Abnormality of retinal pigmentation, Chorioretinal dystrophy, Thick hair, Abnormal eyelash morpho...	ORPHA:193
D-2-Hydroxyglutaric Aciduria 1	Glutaric aciduria, D-2-hydroxyglutaric aciduria	OMIM:600721
Acute Intermittent Porphyria	Hyponatremia, Dark urine, Renal insufficiency, Urinary incontinence, Dysuria, Porphyrinuria, Depr...	ORPHA:79276
Mitochondrial Complex I Deficiency, Nuclear Type 20	Death in infancy, Dicarboxylic aciduria, Death in childhood	OMIM:611126
Mucopolysaccharidosis, Type Ii	Papilledema, Abnormality of retinal pigmentation, Heparan sulfate excretion in urine, Dermatan su...	OMIM:309900
Acyl-Coa Dehydrogenase, Short-Chain, Deficiency Of	Lethargy, Ethylmalonic aciduria	OMIM:201470
Paroxysmal Nocturnal Hemoglobinuria	Hemosiderinuria, Renal insufficiency, Proteinuria, Decreased serum iron, Chronic kidney disease, ...	ORPHA:447
Autosomal Dominant Progressive External Ophthalmoplegia	Bipolar affective disorder, Facial palsy, Elevated circulating creatine kinase concentration, Dep...	ORPHA:254892
Magel2-Related Prader-Willi-Like Syndrome	Hypopigmentation of hair, Chorioretinal hypopigmentation, Lethargy, Micropenis, Hypopigmentation ...	ORPHA:398069
Thiamine Metabolism Dysfunction Syndrome 2 (Biotin- Or Thiamine-Responsive Type)	Lethargy, Facial palsy	OMIM:607483
Aniridia-Intellectual Disability Syndrome	Aniridia, Cataract, Optic nerve hypoplasia, Ectopia lentis	ORPHA:1068
Cockayne Syndrome	Abnormality of retinal pigmentation, Neurogenic bladder, Renal insufficiency, Proteinuria, Urinar...	ORPHA:191
Staphylococcal Necrotizing Pneumonia	Lethargy, Elevated circulating C-reactive protein concentration	ORPHA:36238
Usher Syndrome	Abnormality of retinal pigmentation	ORPHA:886
Coloboma, Ocular, Autosomal Recessive	Cataract, Optic disc coloboma, Retinal coloboma, Lens subluxation, Iris coloboma	OMIM:216820
Spinocerebellar Ataxia Type 7	Cone/cone-rod dystrophy, Macular degeneration, Abnormal fundus morphology	ORPHA:94147
Metachromatic Leukodystrophy, Juvenile Form	Decreased nerve conduction velocity, Optic atrophy, Abnormality of visual evoked potentials	ORPHA:309263
Intermediate Uveitis	Cataract, Macular scar, Vitreous haze, Epiretinal membrane, Vitreous floaters, Band keratopathy, ...	ORPHA:279914
Amoebic Keratitis	Iris atrophy, Cataract, Abnormal posterior eye segment morphology, Abnormal corneal epithelium mo...	ORPHA:67043
Transcobalamin Ii Deficiency	Lethargy, Methylmalonic aciduria	OMIM:275350
Resistance To Thyrotropin-Releasing Hormone Syndrome	Lethargy, Abnormal circulating thyroglobulin level, Depression	ORPHA:99832
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities	Hyponatremia, Calcinosis, Optic atrophy, Renal hypoplasia, Nephrocalcinosis, Aminoaciduria, Hypok...	OMIM:617913
Hypopigmentation, Organomegaly, And Delayed Myelination And Development	Hypopigmentation of hair, Cafe-au-lait spot, Hypopigmentation of the skin	OMIM:618541
Cerebellar, Ocular, Craniofacial, And Genital Syndrome	Retinal degeneration	OMIM:618479
Porphyria Cutanea Tarda	Decreased circulating hepcidin concentration, Abnormal circulating porphyrin concentration, Incre...	ORPHA:101330
Hyperparathyroidism, Neonatal Severe	Calcinosis, Hyperphosphaturia, Hypercalcemia, Polyuria, Hypercalciuria, Aminoaciduria, Hypophosph...	OMIM:239200
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1	Retinal detachment, Retinal atrophy, Optic nerve hypoplasia, Optic atrophy, Retinal dysplasia	OMIM:236670
Angelman Syndrome Due To A Point Mutation	Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation	ORPHA:411511
Genetic Transient Congenital Hypothyroidism	Lethargy, Mottled pigmentation, Increased circulating thyroglobulin level	ORPHA:226316
Atypical Werner Syndrome	Abnormal hair whorl, Fasting hyperinsulinemia, Premature graying of hair, Retinal degeneration, A...	ORPHA:79474
Muenke Syndrome	Hypopigmentation of hair, Hypopigmented skin patches, Hypermelanotic macule	ORPHA:53271
Hermansky-Pudlak Syndrome	Hypopigmentation of hair, Cataract, Partial albinism, Ocular albinism, Melanocytic nevus, Astigma...	ORPHA:79430
Neurodegeneration With Brain Iron Accumulation 1	Pigmentary retinopathy, Optic atrophy, Retinal degeneration, Hyperpigmentation of the skin	OMIM:234200
Infantile Krabbe Disease	Prolonged brainstem auditory evoked potentials, Decreased nerve conduction velocity, Optic atroph...	ORPHA:206436
Ogden Syndrome	Lethargy	ORPHA:276432
Cockayne Syndrome Type 3	Optic disc pallor, Neurogenic bladder, Renal insufficiency, Hydroureter, Retinal atrophy, Unilate...	ORPHA:90324
Chédiak-Higashi Syndrome	Hyponatremia, Abnormality of retinal pigmentation, Hypopigmentation of hair, Hypertriglyceridemia...	ORPHA:167
Smith-Lemli-Opitz Syndrome	Cataract, Aganglionic megacolon, Precocious puberty, Hypoalbuminemia, Elevated circulating 7-dehy...	OMIM:270400
Waardenburg Syndrome, Type 1	Thick eyebrow, White eyelashes, Partial albinism, White eyebrow, Synophrys, Blue irides, Prematur...	OMIM:193500
Mitochondrial Complex Iii Deficiency, Nuclear Type 1	Hypertyrosinemia, Lacticaciduria, Depression, Tubulointerstitial nephritis, Aminoaciduria, Neonat...	OMIM:124000
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15	Hypopigmentation of hair, Premature pubarche, Hypogonadotropic hypogonadism, Decreased response t...	ORPHA:98754
Necrotizing Enterocolitis	Hyponatremia, Lethargy	ORPHA:391673
Microcephaly-Lymphedema-Chorioretinopathy Syndrome	Melanonychia, Retinal detachment, Abnormality of retinal pigmentation, Cataract, Retinal dystroph...	ORPHA:2526
Oculocerebral Hypopigmentation Syndrome, Cross Type	Hypopigmentation of hair, Cataract, Corneal opacity, Ocular albinism, Choroideremia, Iris hypopig...	ORPHA:2719
Combined Oxidative Phosphorylation Deficiency 36	Hyperalaninemia, Aciduria	OMIM:617950
Chediak-Higashi Syndrome	Hypopigmentation of hair, Decreased nerve conduction velocity, Silver-gray hair, Ocular albinism,...	OMIM:214500
Combined Oxidative Phosphorylation Deficiency 18	Methylmalonic aciduria	OMIM:615578
Trichothiodystrophy	Macular degeneration, Numerous pigmented freckles, Retinal degeneration	ORPHA:33364
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay	Nephrocalcinosis, Aminoaciduria, Rod-cone dystrophy	OMIM:616084
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion	Hypopigmentation of hair, Premature pubarche, Hypogonadotropic hypogonadism, Decreased response t...	ORPHA:98793
Persistent Hyperplastic Primary Vitreous	Glial remnants anterior to the optic disc, Hyaloid vascular remnant and retrolental mass, Remnant...	ORPHA:91495
Coffin-Lowry Syndrome	Abnormality of retinal pigmentation, Optic atrophy	ORPHA:192
Classic Homocystinuria	Retinal detachment, Optic atrophy, Abnormality of retinal pigmentation	ORPHA:394
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2	Lethargy, Death in childhood	OMIM:618321
Charcot-Marie-Tooth Disease, Type 4D	Decreased nerve conduction velocity, Abnormal auditory evoked potentials, Abnormality of visual e...	OMIM:601455
Aicardi Syndrome	Retinal detachment, Abnormality of retinal pigmentation, Optic disc coloboma, Optic atrophy, Abno...	ORPHA:50
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2	Hypopigmentation of hair, Premature pubarche, Hypogonadotropic hypogonadism, Decreased response t...	ORPHA:177904
Primary Sclerosing Cholangitis	Type I diabetes mellitus, Hypoalbuminemia, Thyroiditis	ORPHA:171
3-Hydroxyacyl-Coa Dehydrogenase Deficiency	Myoglobinuria, Dicarboxylic aciduria	OMIM:231530
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1	Hypopigmentation of hair, Premature pubarche, Hypogonadotropic hypogonadism, Decreased response t...	ORPHA:177901
Gaucher Disease, Type I	Macular atrophy, Hyperpigmentation of the skin	OMIM:230800
Retinoblastoma	Abnormality of retinal pigmentation, Subretinal pigment epithelium hemorrhage, Retinal calcificat...	ORPHA:790
Aniridia 1	Hypoplasia of the fovea, Anterior subcapsular cataract, Cataract, Optic nerve hypoplasia, Ectopia...	OMIM:106210
Anterior Segment Dysgenesis 7	Cataract, Corneal opacity, Sclerocornea, Microcornea, Buphthalmos, Anterior synechiae of the ante...	OMIM:269400
Cockayne Syndrome Type 1	Absent brainstem auditory responses, Renal insufficiency, Proteinuria, Hypermelanotic macule, Opt...	ORPHA:90321
Cockayne Syndrome A	Retinal atrophy, Abnormal auditory evoked potentials, Decreased nerve conduction velocity, Retina...	OMIM:216400
Mucopolysaccharidosis Type 3	Heparan sulfate excretion in urine, Optic atrophy, Pigmentary retinopathy, Mucopolysacchariduria,...	ORPHA:581
Mucopolysaccharidosis Type 2	Papilledema, Abnormality of retinal pigmentation, Abnormal foveal morphology, Decreased nerve con...	ORPHA:580
Acrodermatitis Enteropathica, Zinc-Deficiency Type	Lethargy, Decreased serum zinc	OMIM:201100
Isolated Thyroid-Stimulating Hormone Deficiency	Depression, Hypercholesterolemia, Abnormal circulating thyroglobulin level, Neonatal hyperbilirub...	ORPHA:90674
Distal Renal Tubular Acidosis	Hyperphosphaturia, Hypocitraturia, Nephrolithiasis, Renal cyst, Hypercalciuria, Nephrocalcinosis,...	ORPHA:18
Mitochondrial Complex Iv Deficiency, Nuclear Type 5	Death in infancy, Ketonuria, Hypospadias, Hyperammonemia	OMIM:220111
Pierson Syndrome	Retinal detachment, Rieger anomaly, Cataract, Remnants of the hyaloid vascular system, Hypoplasia...	OMIM:609049
Hypohidrotic Ectodermal Dysplasia	Abnormal hair quantity, Slow-growing hair, Aplasia/Hypoplasia of the eyebrow, Keratoconjunctiviti...	ORPHA:238468
Juvenile Polyposis Of Infancy	Hypoalbuminemia	ORPHA:79076
Renal Cysts And Diabetes Syndrome	Multiple glomerular cysts, Hypospadias, Abnormality of the kidney, Unilateral renal agenesis, Pro...	OMIM:137920
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive	Cataract, Remnants of the hyaloid vascular system, Corneal opacity, Leukocoria, Retinal nonattach...	OMIM:221900
Glutaric Acidemia I	Elevated circulating glutaric acid concentration, Glutaric aciduria, Ketonuria	OMIM:231670
Glutaryl-Coa Dehydrogenase Deficiency	Glutaric aciduria, Chronic kidney disease, Retinal hemorrhage	ORPHA:25
Proximal Renal Tubular Acidosis	Hyperphosphaturia, Bicarbonaturia, Bicarbonate-wasting renal tubular acidosis, Nephrolithiasis, H...	ORPHA:47159
Acute Liver Failure	Acute kidney injury, Hyperammonemia, Depression	ORPHA:90062
Rajab Interstitial Lung Disease With Brain Calcifications 1	Hypoalbuminemia, Hypocalcemia, Unconjugated hyperbilirubinemia	OMIM:613658
Encephalitis Lethargica	Lethargy, Urinary incontinence	ORPHA:83600
Hypothyroidism Due To Tsh Receptor Mutations	Lethargy, Increased circulating thyroglobulin level, Neonatal hyperbilirubinemia	ORPHA:90673
Pineoblastoma	Papilledema, Retinoblastoma, Lethargy	ORPHA:251909
Hyper-Igd Syndrome	Optic disc pallor, Renal angiomyolipoma, Rod-cone dystrophy, Elevated urine mevalonic acid level	OMIM:260920
Hoyeraal-Hreidarsson Syndrome	Sparse scalp hair, Generalized hyperpigmentation, Premature graying of hair, Nail dystrophy, Gene...	ORPHA:3322
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome	Abnormality of visual evoked potentials	ORPHA:1389
Ramon Syndrome	Optic disc pallor, Pigmentary retinopathy	OMIM:266270
Hydranencephaly	Lethargy, Chorioretinal atrophy, Optic nerve hypoplasia	ORPHA:2177
Alport Syndrome 3A, Autosomal Dominant	Renal insufficiency, Glomerular basement membrane lamellation, Proteinuria, Glomerulonephritis, T...	OMIM:104200
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion	Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation	ORPHA:98794
Metachromatic Leukodystrophy, Adult Form	Decreased nerve conduction velocity, Optic atrophy, Orthostatic hypotension due to autonomic dysf...	ORPHA:309271
Koolen-De Vries Syndrome	Hypopigmentation of hair, Cataract, Hypothyroidism, Abnormality of hair texture	ORPHA:96169
Amish Lethal Microcephaly	Death in infancy, Organic aciduria, Optic atrophy	ORPHA:99742
Chromosome 8Q21.11 Deletion Syndrome	Pigmentary retinopathy	OMIM:614230
Medulloblastoma	Lethargy, Abnormal cranial nerve morphology	ORPHA:616
3-Methylglutaconic Aciduria Type 7	Nephrocalcinosis, Renal insufficiency, 3-Methylglutaconic aciduria, Renal cyst	ORPHA:445038
Anterior Segment Dysgenesis 2	Cataract, Corneal opacity, Sclerocornea, Microcornea, Posterior synechiae of the anterior chamber...	OMIM:610256
Developmental And Epileptic Encephalopathy 3	Abnormality of visual evoked potentials	OMIM:609304
Neurofibromatosis Type 1	Abnormal hair quantity, Abnormality of retinal pigmentation, Generalized hyperpigmentation, Corne...	ORPHA:636
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome	Cone/cone-rod dystrophy, Optic disc pallor, Optic atrophy, Generalized aminoaciduria, Decreased L...	ORPHA:404454
Farber Disease	Macular degeneration, Cherry red spot of the macula	ORPHA:333
Osteopetrosis With Renal Tubular Acidosis	Retinal atrophy, Elevated circulating creatine kinase concentration, Abnormal retinal morphology,...	ORPHA:2785
Melas	Bipolar affective disorder, Proteinuria, Optic atrophy, Depression, Focal segmental glomeruloscle...	ORPHA:550
Histiocytoid Cardiomyopathy	Lethargy, Optic atrophy, Renal cyst	ORPHA:137675
Mogs-Cdg	Abnormality of visual evoked potentials, Absent brainstem auditory responses, Fair hair, Optic at...	ORPHA:79330
Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease	Abnormal eyebrow morphology, Hypopigmentation of hair, Aganglionic megacolon, Hypopigmented skin ...	ORPHA:163746
Glycerol Kinase Deficiency	Increased urinary glycerol, Hypertriglyceridemia, Lethargy, Hyperglycerolemia	OMIM:307030
Glutaric Aciduria Iii	Glutaric aciduria	OMIM:231690
White-Sutton Syndrome	Abnormality of visual evoked potentials, Rod-cone dystrophy, Optic nerve hypoplasia	OMIM:616364
Prader-Willi Syndrome	Hypopigmentation of hair, Hypogonadotropic hypogonadism, Decreased response to growth hormone sti...	OMIM:176270
Late-Infantile/Juvenile Krabbe Disease	Decreased nerve conduction velocity, Prolonged brainstem auditory evoked potentials, Abnormality ...	ORPHA:206443
Aromatic L-Amino Acid Decarboxylase Deficiency	Lethargy	OMIM:608643
Mitochondrial Dna-Associated Leigh Syndrome	Multiple glomerular cysts, Low plasma citrulline, Optic atrophy, Lacticaciduria, Pigmentary retin...	ORPHA:255210
Autoimmune Polyendocrine Syndrome, Type Ii	Alopecia, Cataract, Hyperthyroidism, Band keratopathy, Primary adrenal insufficiency, Thymoma, Ke...	OMIM:269200
Syndromic Diarrhea	Hypopigmentation of hair, Brittle hair, Woolly hair, Hypoplasia of the thymus, Abnormality of iro...	ORPHA:84064
Duane Retraction Syndrome	Central heterochromia, Patchy hypopigmentation of hair, Optic disc hypoplasia, Abnormal pupil mor...	ORPHA:233
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z	Abnormality of peripheral somatosensory evoked potentials, Abnormality of retinal pigmentation, D...	ORPHA:466768
Aprosencephaly And Cerebellar Dysgenesis	Retinal dysplasia	OMIM:601374
Multiple Endocrine Neoplasia Type 2	Elevated urinary catecholamine level, Hypercalcemia, Aganglionic megacolon, Elevated urinary nore...	ORPHA:653
Prader-Willi Syndrome	Hypopigmentation of hair, Diabetes mellitus, Decreased response to growth hormone stimulation tes...	ORPHA:739
Biliary, Renal, Neurologic, And Skeletal Syndrome	Anterior pituitary hypoplasia, Conjugated hyperbilirubinemia, Increased circulating ferritin conc...	OMIM:619534
Ebola Hemorrhagic Fever	Lethargy	ORPHA:319218
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function	Lethargy, Abnormal circulating thyroglobulin level, Optic nerve hypoplasia	ORPHA:226307
Diabetes Mellitus, Permanent Neonatal, 3	Ketonuria, Glycosuria	OMIM:618857
Microphthalmia With Linear Skin Defects Syndrome	Abnormality of retinal pigmentation, Retinal dystrophy, Chorioretinal dysplasia, Vitritis, Abnorm...	ORPHA:2556
Barth Syndrome	Fair hair, 3-Methylglutaconic aciduria	OMIM:302060
Immunodeficiency 82 With Systemic Inflammation	Hypernatremia, Hypoalbuminemia, Elevated circulating C-reactive protein concentration	OMIM:619381
Bohring-Opitz Syndrome	Retinal atrophy, Optic atrophy	ORPHA:97297
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea	Lethargy	OMIM:620233
Trisomy 18	Abnormality of retinal pigmentation	ORPHA:3380
Congenital Disorder Of Deglycosylation 1	Elevated circulating alpha-fetoprotein concentration, Heparan sulfate excretion in urine, Chondro...	OMIM:615273
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria	Methylmalonic acidemia, Hypospadias, Methylmalonic aciduria, 3-Methylglutaconic aciduria, Ethylma...	ORPHA:17
Xq21 Microdeletion Syndrome	Abnormal chorioretinal morphology, Chorioretinal degeneration, Reticular pigmentary degeneration,...	ORPHA:1435
Amoebiasis Due To Free-Living Amoebae	Intrarenal abscess, Facial palsy, Lethargy	ORPHA:68
Cockayne Syndrome B	Dry hair, Abnormal auditory evoked potentials, Abnormal hair morphology, Decreased nerve conducti...	OMIM:133540
Ruvalcaba Syndrome	Abnormality of visual evoked potentials, Hypopigmented skin patches	ORPHA:3121
Monocarboxylate Transporter 1 Deficiency	Ketonuria	OMIM:616095
Say-Barber-Miller Syndrome	Macular degeneration, Rod-cone dystrophy, Optic atrophy	ORPHA:3132
Pearson Syndrome	Renal insufficiency, Proteinuria, Hypomagnesemia, Lacticaciduria, Renal cyst, Glycosuria, Hypokal...	ORPHA:699
Exercise-Induced Malignant Hyperthermia	Elevated circulating creatine kinase concentration, Hyperkalemia, Oliguria, Hyperphosphatemia, Hy...	ORPHA:466650
3-Methylglutaconic Aciduria, Type Viia	3-Methylglutaconic aciduria	OMIM:619835
3-Methylglutaconic Aciduria, Type Viib	3-Methylglutaconic aciduria	OMIM:616271
Multiple Endocrine Neoplasia Type 1	Hypercalcemia, Cranial nerve compression, Nephrolithiasis, Hypercalciuria, Depression, Large cafe...	ORPHA:652
Lipodystrophy, Familial Partial, Type 7	Sparse scalp hair, Orthostatic hypotension, Cataract, Hypertriglyceridemia, Developmental catarac...	OMIM:606721
Ichthyosis, Spastic Quadriplegia, And Impaired Intellectual Development	Abnormality of visual evoked potentials	OMIM:614457
Cartilage-Hair Hypoplasia	Abnormality of retinal pigmentation, Aganglionic megacolon	ORPHA:175
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis	Retinal pigment epithelial mottling, Cataract, Mildly elevated creatine kinase	OMIM:607459
Alagille Syndrome 1	Posterior embryotoxon, Cataract, Hypertriglyceridemia, Band keratopathy, Chorioretinal atrophy, M...	OMIM:118450
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency	Decreased circulating free fatty acid level, Ketonuria, Increased C-peptide level	ORPHA:79644
Nijmegen Breakage Syndrome	Retinal pigment epithelial mottling, Cafe-au-lait spot, Progressive vitiligo	OMIM:251260
Isolated Permanent Neonatal Diabetes Mellitus	Ketonuria, Abnormality of the upper urinary tract, Renal tubular dysfunction, Glycosuria, Moderat...	ORPHA:99885
Spondylocarpotarsal Synostosis Syndrome	Abnormality of retinal pigmentation	OMIM:272460
Mucopolysaccharidosis Type 2, Severe Form	Papilledema, Abnormality of retinal pigmentation, Abnormal foveal morphology, Optic atrophy, Reti...	ORPHA:217085
Cln5 Disease	Abnormality of visual evoked potentials	ORPHA:228360
Khan-Khan-Katsanis Syndrome	Pigmentary retinopathy	OMIM:618460
Prader-Willi Syndrome Due To Translocation	Hypopigmentation of hair, Hypogonadotropic hypogonadism, Decreased response to growth hormone sti...	ORPHA:177907
Glycine Encephalopathy	Lethargy, Hyperglycinemia	ORPHA:407
Cerebrotendinous Xanthomatosis	Optic disc pallor, Optic neuropathy, Abnormal auditory evoked potentials, Abnormal retinal vascul...	ORPHA:909
Mucopolysaccharidosis Type 2, Attenuated Form	Papilledema, Abnormality of retinal pigmentation, Abnormal foveal morphology, Optic atrophy, Reti...	ORPHA:217093
Complete Atrioventricular Septal Defect	Lethargy	ORPHA:1329
Autism, Susceptibility To, 3	Ketonuria	OMIM:608049
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly	Ureteral duplication, Fair hair, Retinal dystrophy, Rod-cone dystrophy, Stage 5 chronic kidney di...	OMIM:266920
Pmm2-Cdg	Cataract, Hypogonadotropic hypogonadism, Elevated circulating growth hormone concentration, Reduc...	ORPHA:79318
Kufor-Rakeb Syndrome	Bradykinesia, Lethargy, Apathy, Urinary incontinence	ORPHA:306674
Linear Skin Defects With Multiple Congenital Anomalies 1	Pigmentary retinopathy	OMIM:309801
Congenital Erythropoietic Porphyria	Hypopigmentation of the skin, Abnormal circulating porphyrin concentration, Red-brown urine, Porp...	ORPHA:79277
3-Methylglutaconic Aciduria, Type Viii	Neonatal death, Death in infancy, 3-Methylglutaric aciduria, 3-Methylglutaconic aciduria	OMIM:617248
Hypothyroidism, Congenital, Nongoitrous, 2	Lethargy, Increased circulating thyroglobulin level, Hyperbilirubinemia	OMIM:218700
Richards-Rundle Syndrome	Ketonuria	ORPHA:1399
Mitochondrial Complex Iv Deficiency, Nuclear Type 10	Ketonuria, Renal hypoplasia	OMIM:619053
Alobar Holoprosencephaly	Abnormality of the autonomic nervous system, Lethargy, Apathy, Depression	ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly	Abnormality of the autonomic nervous system, Lethargy, Apathy, Depression	ORPHA:93926
Lobar Holoprosencephaly	Abnormality of the autonomic nervous system, Lethargy, Apathy, Depression	ORPHA:93924
Semilobar Holoprosencephaly	Abnormality of the autonomic nervous system, Lethargy, Apathy, Depression	ORPHA:220386
Smith-Lemli-Opitz Syndrome	Hypopigmentation of hair, Cataract, Aganglionic megacolon, Sclerocornea, Abnormal eyelash morphol...	ORPHA:818
Diamond-Blackfan Anemia	Lethargy, Renal agenesis, Hypospadias, Horseshoe kidney	ORPHA:124
Autosomal Recessive Faciodigitogenital Syndrome	Hypopigmentation of hair, Coarse hair, Widow's peak, Dry hair	ORPHA:1974
Proteus Syndrome	Abnormality of retinal pigmentation, Central heterochromia, Generalized hyperpigmentation, Catara...	ORPHA:744
Tropical Endomyocardial Fibrosis	Hypoalbuminemia	ORPHA:75565
Alkaptonuria	Elevated urinary homogentisic acid, Nephrolithiasis, Decreased glomerular filtration rate	OMIM:203500
Eisenmenger Syndrome	Renal insufficiency, Elevated circulating C-reactive protein concentration, Hyperuricemia, Abnorm...	ORPHA:97214
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)	3-Methylglutaconic aciduria, Ethylmalonic aciduria, Aciduria	OMIM:203700
Hardikar Syndrome	Hypoplasia of the bladder, Renal insufficiency, Recurrent urinary tract infections, Hydroureter, ...	OMIM:301068
Wiedemann-Rautenstrauch Syndrome	Sparse scalp hair, Cataract, Corneal opacity, Optic disc hypoplasia, Hypertriglyceridemia, Hypogo...	ORPHA:3455
Autosomal Recessive Malignant Osteopetrosis	Abnormality of visual evoked potentials, Optic nerve compression	ORPHA:667
Degcags Syndrome	Abnormal eyebrow morphology, Hypopigmentation of hair, Abnormal eyelash morphology, Synophrys, Lo...	OMIM:619488
X-Linked Intellectual Disability, Armfield Type	Aminoaciduria, Organic aciduria, Galactosuria	ORPHA:85276
Menkes Disease	Sparse hair, Woolly hair, Hypopigmentation of hair	ORPHA:565
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy	Abnormality of visual evoked potentials, Facial palsy	ORPHA:258
Metachromatic Leukodystrophy	Decreased nerve conduction velocity, Abnormality of visual evoked potentials	ORPHA:512
Scorpion Envenomation	Increased circulating NT-proBNP concentration, Ketonuria, Increased circulating creatine kinase M...	ORPHA:466677
Alström Syndrome	Cone/cone-rod dystrophy, Optic disc pallor, Recurrent urinary tract infections, Hypertriglyceride...	ORPHA:64
Metaphyseal Chondromatosis With D-2-Hydroxyglutaric Aciduria	D-2-hydroxyglutaric aciduria, Unilateral renal agenesis	ORPHA:99646

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 Oat

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 Oat.

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

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
Oat^{tm1a(EUCOMM)Wtsi}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors, ES Cells
Oat^{tm1(KOMP)Vlcg}	Reporter-tagged deletion allele (with selection cassette)	ES Cells
Oat^{tm1e(EUCOMM)Wtsi}	Targeted, non-conditional allele	ES Cells

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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