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Gene: Cln8 MGI:1349447

Gene Summary

Name:

CLN8 transmembrane ER and ERGIC protein

Synonyms:

ceroid-lipofuscinosis, neuronal 8, Tlcd6

Order Alleles

IMPC Data Collections

Body Weight Measurements
No Embryo Imaging Data
Viability Data

IMPC Phenotype Summary

Significant

Not Significant

Not tested

View all our phenotype data below

Phenotypes

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

Phenotype	Allele	Zyg	Life Stage	P Value
enlarged spleen	Cln8^em1(IMPC)Mbp	HOM	Early adult	0.00
abnormal kidney morphology	Cln8^em1(IMPC)Mbp	HOM	Early adult	0.00
enlarged heart	Cln8^em1(IMPC)Mbp	HOM	Early adult	0.00
abnormal retina morphology	Cln8^em1(IMPC)Mbp	HOM	Early adult	6.55×10^-05
abnormal spleen morphology	Cln8^em1(IMPC)Mbp	HOM	Early adult	0.00
increased circulating phosphate level	Cln8^em1(IMPC)Mbp	HOM	Early adult	4.87×10^-05
small liver	Cln8^em1(IMPC)Mbp	HOM	Early adult	0.00
increased heart weight	Cln8^em1(IMPC)Mbp	HOM	Early adult	2.85×10^-05
enlarged kidney	Cln8^em1(IMPC)Mbp	HOM	Early adult	0.00
abnormal liver morphology	Cln8^em1(IMPC)Mbp	HOM	Early adult	0.00
abnormal heart morphology	Cln8^em1(IMPC)Mbp	HOM	Early adult	0.00
increased circulating serum albumin level	Cln8^em1(IMPC)Mbp	HOM	Early adult	1.47×10^-05
abnormal vitreous body morphology	Cln8^em1(IMPC)Mbp	HOM	Early adult	7.12×10^-05
cataract	Cln8^em1(IMPC)Mbp	HOM	Early adult	7.52×10^-05

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lacZ Expression

Expression data not available

Associated Images

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

X-ray

XRay Images Whole Body Dorso Ventral

30 Images

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X-ray

XRay Images Whole Body Lateral Orientation

10 Images

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Human diseases caused by Cln8 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 Cln8 (5 diseases)
Human diseases predicted to be associated with Cln8 (1680 diseases)

The table below shows human diseases associated to Cln8 by orthology or direct annotation.

Disease	Matching phenotypes	Source
Juvenile Neuronal Ceroid Lipofuscinosis	Cerebral atrophy, Large central visual field defect, Visual loss, Poor fine motor coordination, C...	ORPHA:79264
Ceroid Lipofuscinosis, Neuronal, 8	Cerebral atrophy, Cerebellar atrophy, Loss of ambulation, Ataxia, Increased neuronal autofluoresc...	OMIM:600143
Late Infantile Neuronal Ceroid Lipofuscinosis	Cerebral atrophy, Visual loss, Inability to walk, Cortical myoclonus, Spasticity, Cerebellar atro...	ORPHA:168491
Progressive Epilepsy-Intellectual Disability Syndrome, Finnish Type	Cerebral atrophy, Inability to walk, Cerebellar atrophy, Frequent falls, Gait ataxia, Optic disc ...	ORPHA:1947
Ceroid Lipofuscinosis, Neuronal, 8, Northern Epilepsy Variant	Cerebral atrophy, Cerebellar atrophy, Bilateral tonic-clonic seizure, Increased neuronal autofluo...	OMIM:610003

The table below shows human diseases predicted to be associated to Cln8 by phenotypic similarity.

Disease	Matching phenotypes	Source
Hereditary Liability to Pressure Palsies (HNPP)	Abnormal motor neuron morphology	DECIPHER:31
Choroidal Dystrophy, Central Areolar, 1	Chorioretinal atrophy, Choriocapillaris atrophy, Pigmentary retinopathy	OMIM:215500
Retinal Dysplasia, Primary	Falciform retinal fold, Retinal dysplasia	OMIM:312550
Charcot-Marie-Tooth Disease, Dominant Intermediate B	Axonal degeneration, Decreased number of peripheral myelinated nerve fibers, Peripheral axonal de...	OMIM:606482
Amyotrophic Lateral Sclerosis, Susceptibility To, 25	Amyotrophic lateral sclerosis	OMIM:617921
Spinal Muscular Atrophy, Segmental	Abnormal anterior horn cell morphology	OMIM:183020
Retinitis Pigmentosa 36	Bone spicule pigmentation of the retina, Macular degeneration, Attenuation of retinal blood vesse...	OMIM:610599
Night Blindness, Congenital Stationary, Type 1D	Congenital stationary night blindness, Attenuation of retinal blood vessels, Macular atrophy, Pig...	OMIM:613830
Leber Congenital Amaurosis 13	Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Optic disc pallor,...	OMIM:612712
Developmental And Epileptic Encephalopathy 14	Generalized tonic seizure, Neuronal loss in central nervous system, Gliosis, Focal motor seizure,...	OMIM:614959
Autosomal Recessive Cerebellar Ataxia-Movement Disorder Syndrome	Limb ataxia, Impaired proprioception, Progressive cerebellar ataxia, Fasciculations, Truncal atax...	ORPHA:95434
Grouped Pigmentation Of The Retina	Abnormality of retinal pigmentation	OMIM:233800
X-Linked Retinal Dysplasia	Abnormal retinal vascular morphology, Abnormality of retinal pigmentation, Retinal dysplasia	ORPHA:1852
Ceroid Lipofuscinosis, Neuronal, 7	Optic atrophy, Cerebral atrophy, Visual loss, Cerebellar atrophy, Blindness, Retinopathy, Ataxia,...	OMIM:610951
Amyotrophic Lateral Sclerosis-Parkinsonism/Dementia Complex 1	Cerebral atrophy, Parkinsonism, Paralysis, Abnormal lower motor neuron morphology, Amyotrophic la...	OMIM:105500
Cleft Lip-Retinopathy Syndrome	Retinopathy, Abnormality of retinal pigmentation	ORPHA:1995
Charcot-Marie-Tooth syndrome type 1A (CMT1A)	Impaired proprioception, Impaired temperature sensation, Hypertrophic nerve changes, Abnormal mot...	DECIPHER:29
Neurodegeneration Due To Cerebral Folate Transport Deficiency	Seizure, Neurodegeneration	OMIM:613068
Amyotrophic Lateral Sclerosis 15 With Or Without Frontotemporal Dementia	Athetosis, Dystonia, Paralysis, Amyotrophic lateral sclerosis, Axonal loss	OMIM:300857
Retinitis Pigmentosa 39	Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Rod-cone dystrophy	OMIM:613809
Bardet-Biedl Syndrome 13	Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Rod-cone dystrophy	OMIM:615990
Night Blindness, Congenital Stationary, Autosomal Dominant 1	Congenital stationary night blindness, Bone spicule pigmentation of the retina	OMIM:610445
Macular Dystrophy, Retinal, 2	Granular macular appearance, Macular dystrophy, Perifoveal ring of hyperautofluorescence, Retinal...	OMIM:608051
Choroideremia	Granular macular appearance, Bone spicule pigmentation of the retina, Chorioretinal degeneration,...	OMIM:303100
Persistent Placoid Maculopathy	Hypoplasia of the fovea, Abnormal macular morphology, Retinal pigment epithelial mottling, Choroi...	ORPHA:97341
Charcot-Marie-Tooth Disease, Type 4A	Axonal degeneration, Hypertrophic nerve changes, CNS hypomyelination, Basal lamina onion bulb for...	OMIM:214400
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 1	Cerebral atrophy, Apraxia, Neuronal loss in central nervous system, Paraparesis, Extrapyramidal d...	OMIM:105550
Amyotrophic Lateral Sclerosis 22 With Or Without Frontotemporal Dementia	Amyotrophic lateral sclerosis	OMIM:616208
Retinopathy, Pericentral Pigmentary, Dominant	Bone spicule pigmentation of the retina, Retinal dystrophy, Retinal atrophy, Retinopathy, Attenua...	OMIM:180210
Amyotrophic Lateral Sclerosis 4, Juvenile	Babinski sign, Difficulty walking, Decreased compound muscle action potential amplitude, Axonal d...	OMIM:602433
Homocarnosinosis	Abnormality of skin pigmentation, Abnormality of retinal pigmentation	OMIM:236130
Central Areolar Choroidal Dystrophy	Full-thickness macular hole, Drusen, Foveal photoreceptor outer segment loss on macular OCT, Abse...	ORPHA:75377
Sorsby Pseudoinflammatory Fundus Dystrophy	Macular dystrophy, Abnormal fundus autofluorescence imaging, Choroidal neovascularization, Chorio...	ORPHA:59181
Nephronophthisis	Abnormality of retinal pigmentation	ORPHA:655
Hepatorenocardiac Degenerative Fibrosis	Cirrhosis, Jaundice, Enlarged kidney, Elevated circulating hepatic transaminase concentration, Tu...	OMIM:619902
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 14	Abnormal lower motor neuron morphology, Vocal cord paralysis	OMIM:607641
Developmental And Epileptic Encephalopathy 71	CNS demyelination, Gliosis, Seizure	OMIM:618328
Muscular Atrophy-Ataxia-Retinitis Pigmentosa-Diabetes Mellitus Syndrome	Abnormality of retinal pigmentation	ORPHA:2579
Arnold-Chiari Malformation Type I	Abnormality of the vestibulocochlear nerve, Babinski sign, Abnormality of the twelfth cranial ner...	ORPHA:268882
Nanophthalmos	Abnormality of retinal pigmentation, Abnormal choroid morphology	ORPHA:35612
Monomelic Amyotrophy	Fasciculations, Tremor, Abnormality of peripheral nerve conduction, Degeneration of anterior horn...	ORPHA:65684
Retinitis Pigmentosa 47	Chorioretinal atrophy, Rod-cone dystrophy, Pigmentary retinopathy	OMIM:613758
Ceroid Lipofuscinosis, Neuronal, 3	Optic atrophy, Cerebral atrophy, Abnormality of extrapyramidal motor function, Macular degenerati...	OMIM:204200
Amyotrophic Lateral Sclerosis 11	Somatic sensory dysfunction, Decreased nerve conduction velocity, Upper motor neuron dysfunction,...	OMIM:612577
Retinitis Pigmentosa 30	Optic atrophy, Bone spicule pigmentation of the retina, Chorioretinal atrophy, Attenuation of ret...	OMIM:607921
Amyotrophic Lateral Sclerosis 1	Fasciculations, Spasticity, Degeneration of anterior horn cells, Amyotrophic lateral sclerosis, D...	OMIM:105400
Liberfarb Syndrome	Retinal degeneration, Bone spicule pigmentation of the retina, Retinal pigment epithelial mottlin...	OMIM:618889
Primary Lateral Sclerosis, Juvenile	Spastic gait, Babinski sign, Spastic dysarthria, Decreased compound muscle action potential ampli...	OMIM:606353
Boucher-Neuhauser Syndrome	Spinocerebellar atrophy, Retinal dystrophy, Abnormal upper motor neuron morphology, Progressive v...	OMIM:215470
Neuropathy, Hereditary Motor And Sensory, Okinawa Type	Degeneration of anterior horn cells, Gliosis, Decreased number of peripheral myelinated nerve fib...	OMIM:604484
Atypical Pantothenate Kinase-Associated Neurodegeneration	Optic atrophy, Oromandibular dystonia, Chorea, Spasticity, Tremor, Upper motor neuron dysfunction...	ORPHA:216873
Retinitis Pigmentosa 57	Bone spicule pigmentation of the retina, Cystoid macular edema, Attenuation of retinal blood vess...	OMIM:613582
Familial Drusen	Granular macular appearance, Macular dystrophy, Peripapillary chorioretinal atrophy, Choroidal ne...	ORPHA:75376
Amyotrophic Lateral Sclerosis 2, Juvenile	Spastic gait, Spastic tetraparesis, Spasticity of facial muscles, Head titubation, Ataxia, Opisth...	OMIM:205100
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome	Optic atrophy, Abnormality of retinal pigmentation	ORPHA:1574
Primary Lateral Sclerosis, Adult, 1	Spastic gait, Babinski sign, Spastic dysarthria, Abnormal upper motor neuron morphology, Spastic ...	OMIM:611637
Amyotrophic Lateral Sclerosis 5, Juvenile	Babinski sign, Fasciculations, Spasticity, Abnormal pyramidal sign, Abnormal lower motor neuron m...	OMIM:602099
Ataxia-Tapetoretinal Degeneration Syndrome	Rod-cone dystrophy, Pigmentary retinopathy	ORPHA:1178
Amyotrophic Lateral Sclerosis 16, Juvenile	Loss of ambulation, Amyotrophic lateral sclerosis, Lower limb spasticity	OMIM:614373
Progressive Cone Dystrophy	Abnormality of retinal pigmentation	ORPHA:1871
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2	Optic atrophy, Babinski sign, Inability to walk by childhood/adolescence, Steppage gait, Distal s...	ORPHA:99947
Behr Syndrome	Optic atrophy, Babinski sign, Truncal ataxia, Sensory axonal neuropathy, Tremor, Progressive spas...	OMIM:210000
Retinitis Pigmentosa 33	Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels, Retinal pigment ep...	OMIM:610359
Cerebellar Hypoplasia-Tapetoretinal Degeneration Syndrome	Optic atrophy, Abnormality of retinal pigmentation	ORPHA:2246
Spinal Muscular Atrophy, Type Iii	Limb fasciculations, Tongue fasciculations, Loss of ambulation, Degeneration of anterior horn cel...	OMIM:253400
Spinal Muscular Atrophy, Type Ii	Degeneration of anterior horn cells, Tongue fasciculations, Hand tremor	OMIM:253550
Juvenile Primary Lateral Sclerosis	Spastic gait, Spastic dysarthria, Gait imbalance, Abnormal upper motor neuron morphology, Spastic...	ORPHA:247604
Cone-Rod Dystrophy 5	Cone/cone-rod dystrophy, Macular degeneration, Retinal pigment epithelial mottling	OMIM:600977
Retinitis Pigmentosa 32	Bone spicule pigmentation of the retina, Photoreceptor layer loss on macular OCT, Pigmentary reti...	OMIM:609913
Amyotrophic Lateral Sclerosis 6 With Or Without Frontotemporal Dementia	Fasciculations, Neuronal loss in central nervous system, Amyotrophic lateral sclerosis, Gait dist...	OMIM:608030
Retinitis Pigmentosa 54	Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Rod-cone dystrophy...	OMIM:613428
Polycystic Kidney Disease 5	Enlarged kidney, Polycystic kidney dysplasia, Hepatosplenomegaly, Hyperechogenic kidneys, Reduced...	OMIM:617610
Encephalopathy, Familial, With Neuroserpin Inclusion Bodies	Cerebral atrophy, Neuronal loss in central nervous system, Gliosis, Seizure, Myoclonus	OMIM:604218
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6	Babinski sign, Difficulty walking, Lower limb spasticity, Fasciculations, Spasticity, Amyotrophic...	OMIM:613954
Retinitis Pigmentosa 42	Cystoid macular edema, Peripapillary atrophy, Reduced visual acuity, Perifoveal ring of hyperauto...	OMIM:612943
Blue Cone Monochromatism	Abnormality of retinal pigmentation	ORPHA:16
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency	Pigmentary retinopathy	OMIM:609016
Retinitis Pigmentosa 61	Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Rod-cone dystrophy	OMIM:614180
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 4	Fasciculations, Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Cerebral c...	OMIM:616439
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 3	Fasciculations, Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Cerebral c...	OMIM:616437
Huntington Disease	Seizure, Neuronal loss in central nervous system, Gliosis, Cerebellar atrophy	OMIM:143100
Retinitis Pigmentosa 96	Retinal thinning, Bone spicule pigmentation of the retina, Rod-cone dystrophy	OMIM:620228
Ceroid Lipofuscinosis, Neuronal, 1	Optic atrophy, Cerebral atrophy, Macular degeneration, Spasticity, Ataxia, Increased neuronal aut...	OMIM:256730
Retinitis Pigmentosa 40	Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Rod-cone dystrophy	OMIM:613801
Intellectual Developmental Disorder, X-Linked, Syndromic, Gustavson Type	Optic atrophy, Spasticity, Severely reduced visual acuity, Blindness	OMIM:309555
Retinitis Pigmentosa 81	Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Optic disc pallor,...	OMIM:617871
Retinitis Pigmentosa 62	Bone spicule pigmentation of the retina, Bull's eye maculopathy, Attenuation of retinal blood ves...	OMIM:614181
Narp Syndrome	Retinal arteriolar tortuosity, Babinski sign, Constriction of peripheral visual field, Corticospi...	ORPHA:644
Retinitis Pigmentosa 95	Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Perifoveal ring of...	OMIM:620102
Spastic Ataxia-Corneal Dystrophy Syndrome	Optic atrophy, Gait disturbance, Hemiplegia/hemiparesis, Ataxia, Spastic ataxia, Myopia, Spinocer...	ORPHA:2572
Progressive Bifocal Chorioretinal Atrophy	Macular atrophy, Pigmentary retinopathy, Chorioretinal dystrophy	ORPHA:75373
Optic Atrophy 3, Autosomal Dominant	Optic atrophy, Scotoma, Abnormality of extrapyramidal motor function, Tremor, Reduced visual acui...	OMIM:165300
Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy	Difficulty walking, Tongue fasciculations, Tremor, Facial palsy, Frequent falls, Myoclonus, Degen...	OMIM:159950
Neuropathy, Ataxia, And Retinitis Pigmentosa	Corticospinal tract atrophy, Retinopathy, Retinal pigment epithelial mottling, Ataxia, Rod-cone d...	OMIM:551500
Nephronophthisis 16	Situs inversus totalis, Enlarged kidney, Nephronophthisis, Periportal fibrosis, Polycystic kidney...	OMIM:615382
Cholestasis, Progressive Familial Intrahepatic, 10	Jaundice, Portal fibrosis, Hepatomegaly, Increased serum bile acid concentration, Elevated circul...	OMIM:619868
Alpha-N-Acetylgalactosaminidase Deficiency Type 3	Cataract, Hepatomegaly, Hypertrophic cardiomyopathy	ORPHA:79281
Neuropathy, Hereditary Motor And Sensory, Russe Type	Peripheral hypomyelination, Difficulty walking, Distal sensory impairment, Axonal regeneration, D...	OMIM:605285
Retinitis Pigmentosa 73	Constriction of peripheral visual field, Color vision defect, Bone spicule pigmentation of the re...	OMIM:616544
Posterior Column Ataxia With Retinitis Pigmentosa	Optic atrophy, Decreased sensory nerve conduction velocity, Hyperintensity of MRI T2 signal of th...	OMIM:609033
Machado-Joseph Disease Type 3	Babinski sign, Progressive cerebellar ataxia, Facial-lingual fasciculations, Abnormality of extra...	ORPHA:276244
Retinitis Pigmentosa 76	Retinal thinning, Bone spicule pigmentation of the retina, Hyperautofluorescent macular lesion, C...	OMIM:617123
Neutropenia, Severe Congenital, 5, Autosomal Recessive	Enlarged kidney, Hepatomegaly, Anemia, Thrombocytopenia, Splenomegaly, Leukopenia, Extramedullary...	OMIM:615285
Neuropathy, Hereditary Motor And Sensory, Type Vic, With Optic Atrophy	Optic atrophy, Color vision defect, Impaired pain sensation, Positive Romberg sign, Impaired dist...	OMIM:618511
Amyotrophic Lateral Sclerosis 23	Degeneration of anterior horn cells, Amyotrophic lateral sclerosis	OMIM:617839
Retinitis Pigmentosa 7	Chorioretinal atrophy, Attenuation of retinal blood vessels, Rod-cone dystrophy, Pigmentary retin...	OMIM:608133
Retinitis Pigmentosa 11	Constriction of peripheral visual field, Bone spicule pigmentation of the retina, Macular degener...	OMIM:600138
Stargardt Disease 1	Macular degeneration, Retinitis pigmentosa inversa, Bull's eye maculopathy	OMIM:248200
Nystagmus 6, Congenital, X-Linked	Hypopigmentation of the fundus, Retinal pigment epithelial mottling	OMIM:300814
Bietti Crystalline Dystrophy	Large central visual field defect, Retinal thinning, Constriction of peripheral visual field, Col...	ORPHA:41751
Pontocerebellar Hypoplasia Type 1	Optic atrophy, Tongue fasciculations, Spasticity, Peripheral axonal neuropathy, Cerebral cortical...	ORPHA:2254
Leber Congenital Amaurosis With Early-Onset Deafness	Retinal degeneration, Retinal pigment epithelial mottling, Peripapillary atrophy	OMIM:617879
Primary Angiitis Of The Central Nervous System	Diplopia, Paraparesis, Amaurosis fugax, Hemiparesis, Abnormal visual field test, Ataxia, Parkinso...	ORPHA:140989
Optic Atrophy 9	Optic atrophy, Red-green dyschromatopsia, Paracentral scotoma, Reduced visual acuity, Visual impa...	OMIM:616289
Amyotrophic Lateral Sclerosis, Susceptibility To, 24	Hippocampal atrophy, Spasticity, Amyotrophic lateral sclerosis, Tetraparesis, Caudate atrophy	OMIM:617892
Pigmented Paravenous Chorioretinal Atrophy	Paravenous chorioretinal atrophy, Vitreoretinopathy, Bone spicule pigmentation of the retina	OMIM:172870
Retinitis Pigmentosa 4	Bone spicule pigmentation of the retina, Retinal atrophy, Attenuation of retinal blood vessels, R...	OMIM:613731
Retinitis Pigmentosa 68	Rod-cone dystrophy, Bone spicule pigmentation of the retina, Retinal atrophy	OMIM:615725
Leukoencephalopathy, Hereditary Diffuse, With Spheroids 1	Global brain atrophy, Neuronal loss in central nervous system, Gliosis, Seizure, Corpus callosum ...	OMIM:221820
Primary Lateral Sclerosis	Spastic gait, Babinski sign, Spastic dysarthria, Abnormal upper motor neuron morphology, Spastici...	ORPHA:35689
Retinitis Pigmentosa 17	Bone spicule pigmentation of the retina, Rod-cone dystrophy	OMIM:600852
Retinitis Pigmentosa 9	Macular edema, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Macular atrophy	OMIM:180104
Frontotemporal Dementia With Motor Neuron Disease	Babinski sign, Global brain atrophy, Progressive cerebellar ataxia, Apraxia, Fasciculations, Abno...	ORPHA:275872
Bothnia Retinal Dystrophy	Increased OCT-measured foveal thickness, Macular degeneration, Pigmentary retinopathy, Abnormal f...	ORPHA:85128
Retinitis Pigmentosa 28	Bone spicule pigmentation of the retina, Rod-cone dystrophy, Optic disc pallor	OMIM:606068
Cone Rod Dystrophy	Abnormality of retinal pigmentation	ORPHA:1872
Early-Onset X-Linked Optic Atrophy	Optic atrophy, Babinski sign, Color vision defect, Decreased nerve conduction velocity, Central s...	ORPHA:98890
Retinitis Pigmentosa 69	Perifoveal hypoautofluorescence, Rod-cone dystrophy, Pigmentary retinopathy	OMIM:615780
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome	Impaired proprioception, Truncal titubation, Bone spicule pigmentation of the retina, Visual loss...	ORPHA:88628
Retinitis Pigmentosa 90	Bone spicule pigmentation of the retina, Cystoid macular edema, Attenuation of retinal blood vess...	OMIM:619007
Retinitis Pigmentosa 27	Bone spicule pigmentation of the retina, Peripapillary chorioretinal atrophy, Chorioretinal atrop...	OMIM:613750
Infantile Neuronal Ceroid Lipofuscinosis	Cerebral atrophy, Visual loss, Chorea, Spasticity, Tremor, Poor fine motor coordination, Cerebell...	ORPHA:79263
Retinitis Pigmentosa 80	Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Macular atrophy	OMIM:617781
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 7	Difficulty walking, Tremor, Vocal cord paralysis, Vocal cord paresis, Abnormal motor nerve conduc...	OMIM:158580
Amyotrophic Lateral Sclerosis 12 With Or Without Frontotemporal Dementia	Fasciculations, Tongue fasciculations, Loss of ambulation, Amyotrophic lateral sclerosis	OMIM:613435
Amyotrophic Lateral Sclerosis 19	Loss of ambulation, Amyotrophic lateral sclerosis	OMIM:615515
Thiamine Metabolism Dysfunction Syndrome 4 (Bilateral Striatal Degeneration And Progressive Polyneuropathy Type)	Paralysis, Peripheral axonal neuropathy, Difficulty walking, Distal sensory impairment	OMIM:613710
Charcot-Marie-Tooth Disease, Type 4C	Axonal degeneration, Abnormal cranial nerve morphology, Facial palsy, Basal lamina onion bulb for...	OMIM:601596
Cone-Rod Dystrophy 16	Bone spicule pigmentation of the retina, Cone/cone-rod dystrophy, Attenuation of retinal blood ve...	OMIM:614500
Cone-Rod Dystrophy 24	Macular degeneration, Macular drusen, Cone/cone-rod dystrophy, Attenuation of retinal blood vesse...	OMIM:620342
Glut1 Deficiency Syndrome 1	Babinski sign, Paroxysmal dystonia, Spasticity, Hemiparesis, Ataxia, Myoclonus, Paralysis, Choreo...	OMIM:606777
Cerebellar Ataxia, Areflexia, Pes Cavus, Optic Atrophy, And Sensorineural Hearing Loss	Bradykinesia, Optic atrophy, Visual loss, Truncal ataxia, Incoordination, Peripheral axonal neuro...	OMIM:601338
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome	Hepatomegaly, Splenomegaly	ORPHA:2274
Immunodeficiency, Common Variable, 6	Enlarged kidney, Hepatomegaly, Nephrotic range proteinuria, Abnormal T cell count, Mesangial Immu...	OMIM:613496
Retinitis Pigmentosa 87 With Choroidal Involvement	Nummular pigmentation of the fundus, Chorioretinal atrophy, Bone spicule pigmentation of the reti...	OMIM:618697
Hemimegalencephaly	Optic atrophy, Epileptic spasm, Gliosis, Focal motor seizure, Seizure, Focal tonic seizure, Atoni...	ORPHA:99802
Spastic Paraplegia 55, Autosomal Recessive	Optic atrophy, Babinski sign, Steppage gait, Difficulty walking, Distal sensory impairment, Lower...	OMIM:615035
Amyotrophic Lateral Sclerosis 9	Spasticity, Amyotrophic lateral sclerosis	OMIM:611895
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome	Eyelid myoclonus, Difficulty walking, Inability to walk, Tremor, Limb myoclonus, Waddling gait, F...	ORPHA:2590
Retinitis Pigmentosa 84	Macular coloboma, Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels, ...	OMIM:618220
Choroideremia	Abnormality of retinal pigmentation	ORPHA:180
Retinitis Pigmentosa 88	Bone spicule pigmentation of the retina, Macular degeneration, Cystoid macular edema, Attenuation...	OMIM:618826
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 3	Paralysis, Difficulty walking	OMIM:608634
Congenital Arthrogryposis With Anterior Horn Cell Disease	Cerebral atrophy, Difficulty walking, Inability to walk, Abnormal anterior horn cell morphology, ...	OMIM:611890
Retinitis Pigmentosa 19	Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels, Retinal pigment ep...	OMIM:601718
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1	Retinal dystrophy, Retinal detachment, Abnormality of skin pigmentation, Abnormality of retinal p...	OMIM:251270
Charcot-Marie-Tooth Disease Type 2B1	Axonal degeneration, Sensory axonal neuropathy, Decreased number of peripheral myelinated nerve f...	ORPHA:98856
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 5	Fasciculations, Amyotrophic lateral sclerosis	OMIM:619141
Pontocerebellar Hypoplasia, Type 1A	Limb ataxia, Fasciculations, Tongue fasciculations, Cerebral cortical atrophy, Ataxia, Degenerati...	OMIM:607596
Retinal Cone Dystrophy 4	Cone/cone-rod dystrophy, Retinal pigment epithelial mottling	OMIM:610478
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia	Fasciculations, Sensory axonal neuropathy, Abnormal motor neuron morphology, Brain atrophy, Upper...	ORPHA:52430
Retinopathy, Pericentral Pigmentary, Autosomal Recessive	Pigmentary retinopathy	OMIM:268060
Amyotrophic Lateral Sclerosis 18	Fasciculations, Spasticity, Amyotrophic lateral sclerosis	OMIM:614808
Spinocerebellar Ataxia Type 25	Babinski sign, Spastic dysarthria, Progressive cerebellar ataxia, Distal sensory impairment, Impa...	ORPHA:101111
Developmental And Epileptic Encephalopathy 54	Seizure, Tonic seizure, Bilateral tonic-clonic seizure, Delayed myelination, Atypical absence sei...	OMIM:617391
Ethanolaminosis	Cardiomegaly	OMIM:227150
Spastic Paraplegia 81, Autosomal Recessive	Optic atrophy, Babinski sign, Inability to walk, Lower limb spasticity, Cerebral visual impairmen...	OMIM:618768
Retinitis Pigmentosa 6	Rod-cone dystrophy, Pigmentary retinopathy, Chorioretinal degeneration	OMIM:312612
Epilepsy, Early-Onset, 5, With Or Without Developmental Delay	Hippocampal sclerosis, Bilateral tonic-clonic seizure, Myoclonus, Focal sensory seizure with visu...	OMIM:615400
Hypoparathyroidism, Familial Isolated, 1	Hypocalcemic seizures, Hypocalcemia, Nephrocalcinosis, Cataract, Hyperphosphatemia	OMIM:146200
Classic Glucose Transporter Type 1 Deficiency Syndrome	Hypertonia, Apraxia, Chorea, Spasticity, Hemiparesis, Dystonia, Ataxia, Extrapyramidal dyskinesia...	ORPHA:71277
Neutropenia, Severe Congenital, 9, Autosomal Dominant	Cataract, 3-Methylglutaconic aciduria, Splenomegaly	OMIM:619813
L-2-Hydroxyglutaric Aciduria	Optic atrophy, Global brain atrophy, Gliosis, Seizure, Cerebellar atrophy, Corpus callosum atroph...	OMIM:236792
Juvenile Amyotrophic Lateral Sclerosis	Tip-toe gait, Hypertonia, Difficulty walking, Oromandibular dystonia, Inability to walk, Lower li...	ORPHA:300605
Leukodystrophy, Hypomyelinating, 14	Cerebral atrophy, Spasticity, Cerebellar atrophy, Dystonia, Blindness	OMIM:617899
Polyglucosan Body Neuropathy, Adult Form	Distal sensory impairment, Orthostatic hypotension, Abnormal upper motor neuron morphology, Perip...	OMIM:263570
Stargardt Disease	Retinal thinning, Abnormality of macular pigmentation, Macular degeneration, Yellow/white lesions...	ORPHA:827
Spinal Muscular Atrophy, Type Iv	Degeneration of anterior horn cells, Tongue fasciculations, Hand tremor, Waddling gait	OMIM:271150
Galactosemia Iv	Cataract, Prolonged neonatal jaundice, Hepatomegaly, Hypergalactosemia	OMIM:618881
3-Methylglutaconic Aciduria, Type Iii	Optic atrophy, Babinski sign, Abnormality of extrapyramidal motor function, Chorea, Spasticity, A...	OMIM:258501
Eales Disease	Retinal thinning, Peripheral retinal neovascularization, Vitritis, Cystoid macular edema, Photops...	ORPHA:40923
Cone-Rod Dystrophy, X-Linked, 1	Hypoautofluorescent macular lesion, Retinal pigment epithelial mottling, Retinal pigment epitheli...	OMIM:304020
Amyotrophic Lateral Sclerosis, Juvenile, With Dementia	Amyotrophic lateral sclerosis	OMIM:205200
Leber Congenital Amaurosis 14	Retinal dystrophy, Photophobia, Falls, Congenital blindness, Reduced visual acuity, Rod-cone dyst...	OMIM:613341
Retinitis Pigmentosa 13	Bone spicule pigmentation of the retina, Asteroid hyalosis, Cystoid macular edema, Optic disc dru...	OMIM:600059
Achromatopsia	Inner retinal layer loss on macular OCT, Attenuation of retinal blood vessels, Hypoplasia of the ...	ORPHA:49382
Multiple Mitochondrial Dysfunctions Syndrome 5	Pigmentary retinopathy	OMIM:617613
Immunodeficiency 83, Susceptibility To Viral Infections	Seizure, Gliosis	OMIM:613002
Usher Syndrome, Type Iv	Retinal degeneration, Bone spicule pigmentation of the retina, Retinal atrophy, Hyperautofluoresc...	OMIM:618144
Alpers-Huttenlocher Syndrome	Spasticity, Progressive spasticity, Abnormality of vision, Paraparesis, Ataxia, Myoclonus, Spasti...	ORPHA:726
Leber Congenital Amaurosis 4	Optic disc pallor, Cone/cone-rod dystrophy, Attenuation of retinal blood vessels, Reduced visual ...	OMIM:604393
Benign Schwannoma	Abnormality of the twelfth cranial nerve, Peripheral schwannoma, Abnormal cranial nerve morpholog...	ORPHA:252164
Central Retinal Vein Occlusion	Retinal neovascularization, Macular degeneration, Cystoid macular edema, Intraretinal hemorrhage,...	ORPHA:411527
Charcot-Marie-Tooth Disease, Axonal, Type 2P	Peripheral axonal degeneration, Axonal degeneration/regeneration, Axonal degeneration	OMIM:614436
Retinitis Pigmentosa 79	Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Macular atrophy, O...	OMIM:617460
Amyotrophic Lateral Sclerosis With Polyglucosan Bodies	Amyotrophic lateral sclerosis	OMIM:205250
Hypocalcemia, Autosomal Dominant 1	Decreased glomerular filtration rate, Hypokalemia, Hypercalciuria, Hypocalcemia, Nephrolithiasis,...	OMIM:601198
Combined Oxidative Phosphorylation Defect Type 29	Global brain atrophy, Axonal degeneration, Optic neuropathy, Myoclonic spasms, Delayed myelinatio...	ORPHA:478029
Autosomal Recessive Complex Spastic Paraplegia Due To Kennedy Pathway Dysfunction	Central retinal vessel vascular tortuosity, Retinal pigment epithelial mottling, Hyporeflective s...	ORPHA:506353
Aa Amyloidosis	Acute kidney injury, Enlarged kidney, Hepatomegaly, Abnormality of the kidney, Cholestasis, Nephr...	ORPHA:85445
Spinocerebellar Ataxia, Autosomal Recessive 29	Retinal pigment epithelial mottling, Optic disc pallor	OMIM:619389
Hypermethioninemia With S-Adenosylhomocysteine Hydrolase Deficiency	Increased circulating creatine kinase MM isoform, Cardiomyopathy, Elevated circulating alanine am...	OMIM:613752
Optic Atrophy 13 With Retinal And Foveal Abnormalities	Optic atrophy, Attenuation of retinal blood vessels, Reduced visual acuity	OMIM:165510
Microphthalmia, Isolated 5	Bone spicule pigmentation of the retina, Foveoschisis, Cystoid macular edema, Optic disc drusen, ...	OMIM:611040
Charcot-Marie-Tooth Disease, Axonal, With Vocal Cord Paresis, Autosomal Recessive	Decreased distal sensory nerve action potential, Impaired pain sensation, Impaired distal vibrati...	OMIM:607706
Congenital Stationary Night Blindness	Congenital stationary night blindness with abnormal fundus, Retinal thinning, Abnormality of reti...	ORPHA:215
Leber Congenital Amaurosis 2	Photophobia, Blindness, Optic disc pallor, Fundus atrophy, Attenuation of retinal blood vessels, ...	OMIM:204100
Exudative Vitreoretinopathy 7	Retinal detachment, Exudative vitreoretinopathy, Retinal degeneration, Retinal hole, Retinal fold	OMIM:617572
Amyotrophic Lateral Sclerosis 10 With Or Without Frontotemporal Dementia	Babinski sign, Spasticity, Amyotrophic lateral sclerosis	OMIM:612069
Late-Infantile/Juvenile Krabbe Disease	Visual loss, Tetraplegia, Ataxia, Acroparesthesia, Clumsiness, Hemiplegia, Decreased nerve conduc...	ORPHA:206443
Optic Atrophy 10 With Or Without Ataxia, Impaired Intellectual Development, And Seizures	Color vision defect, Photophobia, Central scotoma, Blind-spot enlargment, Ataxia, Reduced visual ...	OMIM:616732
Lethal Congenital Contracture Syndrome 7	Paralysis, Facial diplegia, Cerebellar atrophy, Cerebral atrophy	OMIM:616286
Amyotrophic Lateral Sclerosis 8	Fasciculations, Neuronal loss in central nervous system, Loss of ambulation, Abnormal pyramidal s...	OMIM:608627
Spastic Paraplegia 75, Autosomal Recessive	Spastic gait, Babinski sign, Optic atrophy, Spastic dysarthria, Hypermetropia, Spasticity, Cerebe...	OMIM:616680
Newfoundland Rod-Cone Dystrophy	Bone spicule pigmentation of the retina, Retinal dystrophy	OMIM:607476
Neurodegeneration With Brain Iron Accumulation 4	Optic atrophy, Babinski sign, Oromandibular dystonia, Generalized dystonia, Abnormality of extrap...	OMIM:614298
Combined Oxidative Phosphorylation Deficiency 29	Optic atrophy, Global brain atrophy, Axonal degeneration, Seizure, Cerebellar atrophy, Optic neur...	OMIM:616811
Renal-Hepatic-Pancreatic Dysplasia 2	Situs inversus totalis, Enlarged kidney, Hepatomegaly, Truncus arteriosus, Cholestasis, Hypertrop...	OMIM:615415
Congenital Neuronal Ceroid Lipofuscinosis	Abnormal astrocyte morphology, Gliosis, Seizure, Cerebellar atrophy, Diffuse demyelination of the...	ORPHA:168486
Blue Diaper Syndrome	Elevated circulating hepatic transaminase concentration, Blue urine, Nephrocalcinosis, Hypercalce...	ORPHA:94086
Developmental And Epileptic Encephalopathy 79	Frontotemporal cerebral atrophy, Bilateral tonic-clonic seizure with generalized onset, Seizure, ...	OMIM:618559
Exudative Vitreoretinopathy 3	Retinal exudate, Retinal detachment, Exudative vitreoretinopathy, Retinal hole, Retinal fold	OMIM:605750
Retinitis Pigmentosa 1	Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Rod-cone dystrophy...	OMIM:180100
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1	Cerebral atrophy, Babinski sign, Caudate atrophy, Apraxia, Abnormal upper motor neuron morphology...	OMIM:221770
Renal-Hepatic-Pancreatic Dysplasia 1	Enlarged kidney, Hyperechogenic pancreas, Cholestasis, Biliary cirrhosis, Aortic valve stenosis, ...	OMIM:208540
Retinitis Pigmentosa 92	Pigmentary retinopathy	OMIM:619614
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 4	Abnormal lower motor neuron morphology, Waddling gait, Difficulty walking	OMIM:611067
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 2	Babinski sign, Cerebral cortical atrophy, Ataxia, Parkinsonism, Amyotrophic lateral sclerosis	OMIM:615911
Spastic Paraplegia 82, Autosomal Recessive	Optic atrophy, Babinski sign, Cerebral atrophy, Spasticity, Reduced visual acuity	OMIM:618770
Ophthalmoplegia-Intellectual Disability-Lingua Scrotalis Syndrome	Abnormality of retinal pigmentation, Facial palsy	ORPHA:2743
Frontotemporal Dementia	Neuronal loss in central nervous system, Amyotrophic lateral sclerosis, Parkinsonism	OMIM:600274
Leber Congenital Amaurosis 9	Optic atrophy, Macular coloboma, Macular hypopigmentation, Bone spicule pigmentation of the retin...	OMIM:608553
Developmental Delay, Impaired Growth, Dysmorphic Facies, And Axonal Neuropathy	Pigmentary retinopathy	OMIM:619090
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1	Tip-toe gait, Babinski sign, Difficulty walking, Distal sensory impairment, Axonal degeneration, ...	OMIM:302800
Retinitis Pigmentosa 78	Cystoid macular edema, Photopsia, Visual field defect, Reduced visual acuity, Optic disc pallor, ...	OMIM:617433
Macular Dystrophy, Patterned, 1	Dark choroid, Pattern dystrophy of the retina, Macular dystrophy, Choroidal neovascularization, Y...	OMIM:169150
Macular Dystrophy, Vitelliform, 5	Macular dystrophy, Central scotoma, Reduced visual acuity, Vitelliform-like macular lesions, Mode...	OMIM:616152
Spastic Paraplegia 79B, Autosomal Recessive	Visual loss, Fasciculations, Cerebellar atrophy, Spastic paraplegia, Head titubation, Ataxia, Red...	OMIM:615491
Leber Congenital Amaurosis 8	Macular coloboma, Chorioretinal atrophy, Nummular pigmentation of the fundus, Choriocapillaris at...	OMIM:613835
Mitochondrial Dna Depletion Syndrome 16B (Neuroophthalmic Type)	Optic atrophy, Premature ovarian insufficiency, Difficulty walking, Visual loss, Peripheral axona...	OMIM:619425
Retinal Dystrophy, Juvenile Cataracts, And Short Stature Syndrome	Bone spicule pigmentation of the retina, Retinal dystrophy, Attenuation of retinal blood vessels,...	OMIM:616108
Mitochondrial Complex Iii Deficiency, Nuclear Type 2	Incoordination, Cerebellar atrophy, Gait apraxia, Gait ataxia, Ataxia, Babinski sign, Limb fascic...	OMIM:615157
Leukoencephalopathy With Vanishing White Matter 1	Optic atrophy, Gliosis, Seizure, CNS demyelination, Cerebral hypomyelination	OMIM:603896
Hypotrichosis, Congenital, With Juvenile Macular Dystrophy	Macular degeneration, Subretinal deposits, Choriocapillaris atrophy, Reduced visual acuity, Blind...	OMIM:601553
Retinitis Pigmentosa 70	Constriction of peripheral visual field, Macular degeneration, Attenuation of retinal blood vesse...	OMIM:615922
Progressive Non-Fluent Aphasia	Frontotemporal cerebral atrophy, Senile plaques, Apraxia, Abnormality of extrapyramidal motor fun...	ORPHA:100070
Bornholm Eye Disease	Optic nerve hypoplasia, Abnormality of retinal pigmentation	OMIM:300843
Stargardt Disease 3	Macular dystrophy, Macular flecks, Reduced visual acuity, Macular atrophy, Visual impairment	OMIM:600110
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal	Optic atrophy, Generalized myoclonic seizure, Focal-onset seizure, Neuronal loss in central nervo...	OMIM:614498
Triokinase And Fmn Cyclase Deficiency Syndrome	Hepatomegaly, Pancreatitis, Elevated circulating alanine aminotransferase concentration, Cataract...	OMIM:618805
Vocal Cord And Pharyngeal Distal Myopathy	Decreased nerve conduction velocity, Difficulty walking, Distal sensory impairment, Vocal cord pa...	ORPHA:600
Nephrotic Syndrome, Type 7	Acute kidney injury, Hemolytic-uremic syndrome, Podocyte foot process effacement, Nephrotic syndr...	OMIM:615008
X-Linked Adrenoleukodystrophy	Paralysis, Visual loss, Incoordination, Abnormality of vision, Impotence, Gait disturbance, Parap...	ORPHA:43
Morning Glory Disc Anomaly	Retinal detachment, Abnormality of retinal pigmentation, Optic disc coloboma	ORPHA:35737
Microcephaly-Cardiomyopathy Syndrome	Abnormality of retinal pigmentation	ORPHA:2515
X-Linked Neurodegenerative Syndrome, Hamel Type	Spasticity, Blindness	ORPHA:85336
Primary Membranoproliferative Glomerulonephritis	Acute kidney injury, Drusen, Glomerular subendothelial electron-dense deposits, Nephrotic syndrom...	ORPHA:54370
Retinoschisis 1, X-Linked, Juvenile	Retinal detachment, Retinal atrophy, Retinoschisis, Peripheral cystoid retinal degeneration, Reti...	OMIM:312700
Retinopathy Of Prematurity	Vitreous hemorrhage, Tractional retinal detachment, Reduced visual acuity, Abnormal retinal vascu...	ORPHA:90050
Spinal Muscular Atrophy, X-Linked 2	Degeneration of anterior horn cells, Tongue fasciculations, Facial palsy, Decreased compound musc...	OMIM:301830
Oliver-Mcfarlane Syndrome	Central heterochromia, Retinal degeneration, Pigmentary retinopathy	OMIM:275400
Retinitis Pigmentosa 86	Bone spicule pigmentation of the retina, Cystoid macular edema, Nummular pigmentation of the fund...	OMIM:618613
Cone-Rod Dystrophy 3	Pigmentary retinopathy, Bull's eye maculopathy, Cone/cone-rod dystrophy, Attenuation of retinal b...	OMIM:604116
Charcot-Marie-Tooth Disease, Demyelinating, Type 4F	Steppage gait, Difficulty walking, Distal sensory impairment, Broad-based gait, Sensory ataxia, G...	OMIM:614895
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Enlarged kidney, Ureteral duplication, Elevated circulating hepatic transaminase concentration, H...	OMIM:608836
Retinitis Pigmentosa 12	Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Rod-cone dystrophy...	OMIM:600105
Autoimmune Hypoparathyroidism	Hypocalcemic seizures, Hypocalcemia, Calcium nephrolithiasis, Hypocalcemic tetany, Conjunctivitis...	ORPHA:36913
Cardiomyopathy, Dilated, 1I	Cardiomegaly, Dilated cardiomyopathy, Elevated circulating creatine kinase concentration	OMIM:604765
Horner Syndrome, Congenital	Paralysis, Congenital Horner syndrome	OMIM:143000
Pontocerebellar Hypoplasia, Type 4	Seizure, Gliosis, Myoclonus	OMIM:225753
Retinitis Pigmentosa 46	Attenuation of retinal blood vessels, Rod-cone dystrophy, Optic disc pallor, Pigmentary retinopathy	OMIM:612572
Retinitis Pigmentosa 71	Optic disc drusen, Attenuation of retinal blood vessels, Perifoveal ring of hyperautofluorescence...	OMIM:616394
Severe Canavan Disease	Optic atrophy, Babinski sign, Inability to walk, Decerebrate rigidity, Spasticity, Blindness	ORPHA:314911
Neuropathy, Hereditary, With Liability To Pressure Palsies	Hand paresthesia, Vocal cord paralysis, Hypoesthesia, Decreased motor nerve conduction velocity, ...	OMIM:162500
Retinitis Pigmentosa 38	Constriction of peripheral visual field, Progressive visual loss, Peripheral retinal atrophy, Rod...	OMIM:613862
Retinitis Pigmentosa 41	Bone spicule pigmentation of the retina, Macular degeneration, Pigmentary retinopathy, Attenuatio...	OMIM:612095
Nephronophthisis 2	Hyperkalemia, Chronic tubulointerstitial nephritis, Enlarged kidney, Nephronophthisis, Situs inve...	OMIM:602088
Charcot-Marie-Tooth Disease, Axonal, Type 2R	Peripheral axonal neuropathy, Decreased number of peripheral myelinated nerve fibers, Axonal dege...	OMIM:615490
Cholestasis, Progressive Familial Intrahepatic, 12	Jaundice, Hepatomegaly, Increased serum bile acid concentration, Hyperbilirubinemia, Cholestasis,...	OMIM:620010
Retinal Dystrophy With Inner Retinal Dysfunction And Ganglion Cell Abnormalities	Retinal dystrophy, Photophobia, Central scotoma, Reduced visual acuity, Optic disc pallor, Nyctal...	OMIM:616079
Spinocerebellar Ataxia 40	Pontocerebellar atrophy, Broad-based gait, Dysdiadochokinesis, Tremor, Intention tremor, Gait ata...	OMIM:616053
Mucopolysaccharidosis-Plus Syndrome	Optic atrophy, Enlarged kidney, Hepatomegaly, Macrovesicular hepatic steatosis, Anemia, Focal seg...	OMIM:617303
Peroxisome Biogenesis Disorder 8B	Cerebellar atrophy, Gait ataxia, Corpus callosum atrophy, Rigidity, Ataxia, Optic atrophy, Babins...	OMIM:614877
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 2	Paralysis	OMIM:158590
Aplasia Cutis-Myopia Syndrome	Abnormality of retinal pigmentation	ORPHA:1117
Congenital Cataracts, Facial Dysmorphism, And Neuropathy	Cerebral atrophy, Peripheral hypomyelination, Axonal degeneration, Peripheral axonal degeneration...	OMIM:604168
Macular Dystrophy, Retinal, 1, North Carolina Type	Macular dystrophy, Drusen, Central scotoma, Dyschromatopsia, Abnormality of macular pigmentation,...	OMIM:136550
Hereditary Neuropathy With Liability To Pressure Palsies	Decreased motor nerve conduction velocity, Vocal cord paralysis, Paresthesia	ORPHA:640
Retinitis Pigmentosa 50	Retinal detachment, Attenuation of retinal blood vessels, Reduced visual acuity, Retinal flecks, ...	OMIM:613194
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23	Seizure, Axonal degeneration	OMIM:618138
Genetic Recurrent Myoglobinuria	Hyperkalemia, Acute kidney injury, Exercise-induced myoglobinuria, Elevated circulating hepatic t...	ORPHA:99845
Classic Pantothenate Kinase-Associated Neurodegeneration	Tip-toe gait, Inability to walk, Spasticity, Pigmentary retinopathy, Frequent falls, Gait disturb...	ORPHA:216866
Infantile Osteopetrosis With Neuroaxonal Dysplasia	Cerebral atrophy, Brain atrophy, Seizure, Abnormal myelination	ORPHA:85179
Diabetes Insipidus, Neurohypophyseal	Gliosis	OMIM:125700
Hemochromatosis, Type 2B	Cirrhosis, Hepatomegaly, Anemia, Elevated circulating hepatic transaminase concentration, Cardiom...	OMIM:613313
Sorsby Fundus Dystrophy	Macular dystrophy, Chorioretinal atrophy, Blindness	OMIM:136900
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease	Enlarged kidney, Hepatomegaly, Periportal fibrosis, Tubulointerstitial fibrosis, Polycystic kidne...	OMIM:263200
Retinitis Pigmentosa 63	Nyctalopia, Rod-cone dystrophy, Optic disc pallor, Blurred vision	OMIM:614494
Retinitis Pigmentosa 2	Chorioretinal degeneration, Fundus atrophy, Bull's eye maculopathy, Rod-cone dystrophy, Pigmentar...	OMIM:312600
X-Linked Charcot-Marie-Tooth Disease Type 5	Optic atrophy, Abnormal nerve conduction velocity, Impaired pain sensation, Tremor, Gait disturba...	ORPHA:99014
Retinitis Pigmentosa 29	Attenuation of retinal blood vessels, Rod-cone dystrophy, Blindness	OMIM:612165
X-Linked Cerebral Adrenoleukodystrophy	Hoffmann sign, Global brain atrophy, Difficulty walking, Inability to walk, Oculomotor apraxia, L...	ORPHA:139396
Glutathione Synthetase Deficiency	Pigmentary retinopathy	OMIM:266130
Optic Atrophy 1	Optic atrophy, Tritanomaly, Central scotoma, Red-green dyschromatopsia, Ataxia, Reduced visual ac...	OMIM:165500
Eem Syndrome	Retinopathy, Macular dystrophy, Abnormality of retinal pigmentation	ORPHA:1897
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome	Cardiomegaly, Hypoalbuminemia	ORPHA:88643
Leber Congenital Amaurosis 1	Photophobia, Optic disc drusen, Blindness, Fundus atrophy, Attenuation of retinal blood vessels, ...	OMIM:204000
Cerebral Sclerosis, Diffuse, Scholz Type	Spastic paraplegia, Blindness	OMIM:302700
Autosomal Recessive Spastic Paraplegia Type 71	Abnormal myelination	ORPHA:401840
Sandhoff Disease	Ataxia, Cherry red spot of the macula, Blindness	ORPHA:796
Cone-Rod Synaptic Disorder Syndrome, Congenital Nonprogressive	Retinal thinning, Photophobia, Ataxia, Reduced visual acuity, Optic disc pallor	OMIM:618970
Cataract, Congenital, With Mental Impairment And Dentate Gyrus Atrophy	Chorea, Blindness, Gait disturbance	OMIM:607674
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy	Optic atrophy, Tritanomaly, Central scotoma, Dyschromatopsia, Spasticity, Red-green dyschromatops...	OMIM:125250
Hsd10 Disease, Infantile Type	Optic atrophy, Frontotemporal cerebral atrophy, Cerebral atrophy, Hyperkinetic movements, Visual ...	ORPHA:391428
Kearns-Sayre Syndrome	Abnormality of retinal pigmentation	ORPHA:480
Juvenile Neuronal Ceroid Lipofuscinosis	Cerebral atrophy, Large central visual field defect, Visual loss, Poor fine motor coordination, C...	ORPHA:79264
Charcot-Marie-Tooth Disease, Dominant Intermediate A	Peripheral axonal neuropathy, Axonal degeneration/regeneration, Onion bulb formation, Peripheral ...	OMIM:620378
Spastic Ataxia 2, Autosomal Recessive	Cerebral atrophy, Babinski sign, Torticollis, Fasciculations, Spasticity, Tremor, Cerebellar atro...	OMIM:611302
Galactosemia Ii	Cataract, Prolonged neonatal jaundice, Hypergalactosemia, Galactosuria	OMIM:230200
Late-Onset Retinal Degeneration	Sub-RPE deposits, Adult-onset night blindness, Visual loss, Choroidal neovascularization, Scotoma...	OMIM:605670
Primary Hypomagnesemia With Hypercalciuria And Nephrocalcinosis With Severe Ocular Involvement	Macular coloboma, Abnormality of retinal pigmentation, Chorioretinal coloboma	ORPHA:2196
Autosomal Recessive Charcot-Marie-Tooth Disease With Hoarseness	Impaired tandem gait, Chronic axonal neuropathy, Distal sensory impairment, Impaired tactile sens...	ORPHA:101097
Diprosopus	Abnormality of retinal pigmentation	ORPHA:1681
Hypoparathyroidism, Familial Isolated, 2	Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures	OMIM:618883
Cach Syndrome	Limb ataxia, Optic atrophy, Cerebral atrophy, Premature ovarian insufficiency, Secondary amenorrh...	ORPHA:135
Wolfram-Like Syndrome, Autosomal Dominant	Optic atrophy, Blind-spot enlargment, Reduced visual acuity, Severely reduced visual acuity, Opti...	OMIM:614296
Proteasome-Associated Autoinflammatory Syndrome 5	Hypertriglyceridemia, Hepatomegaly, Splenomegaly	OMIM:619175
Tyrosinemia, Type I	Enlarged kidney, Elevated circulating hepatic transaminase concentration, Hypertyrosinemia, Ascit...	OMIM:276700
Autosomal Dominant Polycystic Kidney Disease	Enlarged kidney, Elevated circulating creatinine concentration, Hematuria, Decreased glomerular f...	ORPHA:730
Spastic Paralysis, Infantile-Onset Ascending	Babinski sign, Tetraplegia, Spastic paraplegia, Spastic tetraplegia, Abnormal lower motor neuron ...	OMIM:607225
Amyotrophic Lateral Sclerosis	Babinski sign, Fasciculations, Spasticity, Motor neuron atrophy, Neurodegeneration, Paralysis, Am...	ORPHA:803
Spastic Ataxia 9, Autosomal Recessive	Hoffmann sign, Babinski sign, Premature ovarian insufficiency, Cerebellar vermis atrophy, Spastic...	OMIM:618438
Familial Exudative Vitreoretinopathy	Macular telangiectasia, Macular exudate, Retinal neovascularization, Chorioretinal atrophy, Vitre...	ORPHA:891
Retinitis Pigmentosa 77	Bone spicule pigmentation of the retina, Cystoid macular edema, Retinal atrophy, Attenuation of r...	OMIM:617304
Cone-Rod Dystrophy 20	Cone/cone-rod dystrophy, Bone spicule pigmentation of the retina, Optic disc pallor	OMIM:615973
Retinal Capillary Malformation	Retinal exudate, Progressive visual loss, Retinal capillary hemangioma, Vitreous floaters, Photop...	ORPHA:71213
Microcephaly 10, Primary, Autosomal Recessive	Cerebral atrophy, Gliosis, Cerebellar atrophy, Delayed CNS myelination	OMIM:615095
Pantothenate Kinase-Associated Neurodegeneration	Limb dystonia, Rigidity, Visual field defect, Optic atrophy, Tip-toe gait, Pallidal degeneration,...	ORPHA:157850
Retinitis Pigmentosa 83	Bone spicule pigmentation of the retina, Asteroid hyalosis, Cystoid macular edema, Vitreous float...	OMIM:618173
Immunodeficiency 115 With Autoinflammation	Intestinal lymphangiectasia, Anemia, Elevated circulating C-reactive protein concentration, Eleva...	OMIM:620632
Senior-Loken Syndrome	Abnormality of retinal pigmentation, Retinal dystrophy	ORPHA:3156
Spinocerebellar Ataxia 7	Optic atrophy, Macular degeneration, Pigmentary retinopathy	OMIM:164500
Retinitis Pigmentosa 10	Bone spicule pigmentation of the retina, Geographic atrophy, Bull's eye maculopathy, Attenuation ...	OMIM:180105
Ataxia With Vitamin E Deficiency	Hypertonia, Dysdiadochokinesis, Tremor, Gait disturbance, Hemiplegia/hemiparesis, Abnormality of ...	ORPHA:96
Retinitis Pigmentosa 58	Bone spicule pigmentation of the retina, Macular degeneration, Attenuation of retinal blood vesse...	OMIM:613617
Hepatoportal Sclerosis	Abnormal liver parenchyma morphology, Jaundice, Anemia, Elevated circulating hepatic transaminase...	ORPHA:64743
Leber Congenital Amaurosis 16	Photophobia, Optic disc pallor, Visual field defect, Reduced visual acuity, Visual impairment, Ny...	OMIM:614186
Pseudohypoparathyroidism, Type Ib	Hypocalcemia, Hyperphosphatemia, Low urinary cyclic AMP response to PTH administration	OMIM:603233
Oculocutaneous Albinism Type 4	Optic nerve misrouting, Hypopigmentation of hair, Hypopigmentation of the skin, White hair, Iris ...	ORPHA:79435
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)	Hyperkalemia, Jaundice, Hepatomegaly, Microvesicular hepatic steatosis, Cholestasis, Elevated cir...	OMIM:618528
Pseudohypoparathyroidism Type 2	Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures, Hypocalcemic tetany	ORPHA:94090
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland	Hypocalcemic seizures, Hypercalciuria, Hypocalcemia, Hypomagnesemia, Hyperphosphatemia	ORPHA:2239
Diabetes And Deafness, Maternally Inherited	Retinal degeneration, Pigmentary retinopathy	OMIM:520000
Congenital Toxoplasmosis	Jaundice, Anemia, Lymphadenopathy, Hepatomegaly, Elevated circulating hepatic transaminase concen...	ORPHA:858
Porphyria, Acute Hepatic	Paralysis, Paresthesia, Respiratory paralysis	OMIM:612740
Charcot-Marie-Tooth Disease Type 4A	Decreased nerve conduction velocity, Chronic axonal neuropathy, Inability to walk, Distal sensory...	ORPHA:99948
Retinitis Pigmentosa 45	Macular degeneration, Bone spicule pigmentation of the retina, Rod-cone dystrophy	OMIM:613767
Leber Congenital Amaurosis 12	Abnormality of macular pigmentation, Congenital blindness	OMIM:610612
Usher Syndrome Type 1	Visual loss, Scotoma, Subcortical cerebral atrophy, Cerebral cortical atrophy, Hemianopia, Ataxia...	ORPHA:231169
Paget Disease Of Bone 5, Juvenile-Onset	Angioid streaks of the fundus, Hydroxyprolinemia, Hyperuricemia, Hypercalciuria, Increased urine ...	OMIM:239000
Galactose Epimerase Deficiency	Jaundice, Hepatomegaly, Splenomegaly, Cataract, Aminoaciduria	ORPHA:79238
Dent Disease 2	Low-molecular-weight proteinuria, Hypercalciuria, Proximal tubulopathy, Elevated circulating crea...	OMIM:300555
Optic Atrophy 16	Color vision defect, Visual loss, Central scotoma, Temporal optic disc pallor, Mildly reduced vis...	OMIM:620629
Nephronophthisis 3	Polyuria, Enlarged kidney, Nephronophthisis, Hematuria, Tubulointerstitial fibrosis, Enuresis, Re...	OMIM:604387
Pseudohypoparathyroidism Type 1B	Low urinary cyclic AMP response to PTH administration, Hypocalcemic seizures, Hypocalcemia, Hypoc...	ORPHA:94089
Peroxisome Biogenesis Disorder 8A (Zellweger)	Jaundice, Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Cataract, ...	OMIM:614876
Focal Segmental Glomerulosclerosis 6	Hematuria, Focal segmental glomerulosclerosis, Nephrotic syndrome, Renal tubular atrophy, Protein...	OMIM:614131
Migraine, Familial Hemiplegic, 3	Hemiplegia, Hemiparesis, Blindness, Photophobia	OMIM:609634
Retinitis Pigmentosa 49	Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Rod-cone dystrophy...	OMIM:613756
Combined Oxidative Phosphorylation Deficiency 24	Optic atrophy, Neuronal loss in central nervous system, Gliosis, Seizure, Cerebellar atrophy, CNS...	OMIM:616239
Sarcosinemia	Tetraparesis, Congenital blindness, Optic atrophy, Ataxia	ORPHA:3129
Leber Congenital Amaurosis	Abnormality of retinal pigmentation, Abnormal optic disc morphology	ORPHA:65
Retinitis Pigmentosa 43	Bone spicule pigmentation of the retina, Pigmentary retinopathy, Attenuation of retinal blood ves...	OMIM:613810
Autosomal Spastic Paraplegia Type 58	Fasciculations, Chorea, Cerebellar atrophy, Gait ataxia, Reduced visual acuity, Tip-toe gait, Bab...	ORPHA:397946
Lethal Congenital Contracture Syndrome 8	Peripheral hypomyelination, Facial diplegia, Vocal cord paralysis, Distal sensory impairment	OMIM:616287
Adrenoleukodystrophy	Limb ataxia, Impaired vibration sensation at ankles, Visual loss, Incoordination, Truncal ataxia,...	OMIM:300100
Pick Disease Of Brain	Neuronal loss in central nervous system, Gliosis	OMIM:172700
Pseudohypoparathyroidism, Type Ic	Low urinary cyclic AMP response to PTH administration, Hypocalcemia, Hypocalcemic tetany, Catarac...	OMIM:612462
Hypotaurinemic Retinal Degeneration And Cardiomyopathy	Retinal thinning, Photoreceptor layer loss on macular OCT, Attenuation of retinal blood vessels, ...	OMIM:145350
Cavitary Optic Disc Anomalies	Visual field defect, Peripapillary atrophy, Reduced visual acuity, Nyctalopia	OMIM:611543
Malignant Hyperthermia, Susceptibility To, 1	Hyperkalemia, Myoglobinuria, Hyperphosphatemia, Elevated circulating creatine kinase concentration	OMIM:145600
Ceroid Lipofuscinosis, Neuronal, 8	Cerebral atrophy, Cerebellar atrophy, Loss of ambulation, Ataxia, Increased neuronal autofluoresc...	OMIM:600143
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1	Calcinosis, Increased renal tubular phosphate reabsorption, Angioid streaks of the fundus, Conjun...	OMIM:211900
Spinocerebellar Ataxia 17	Neuronal loss in central nervous system, Gliosis, Seizure, Cerebellar atrophy, Diffuse cerebral a...	OMIM:607136
Gm2-Gangliosidosis, Ab Variant	Cerebral atrophy, Hypertonia, Chorea, Spastic tetraparesis, Exaggerated startle response, Dystoni...	OMIM:272750
Laryngeal Adductor Paralysis	Paralysis	OMIM:150270
Friedreich Ataxia	Limb ataxia, Babinski sign, Optic atrophy, Impaired proprioception, Gait imbalance, Inability to ...	ORPHA:95
Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome	Retinal degeneration, Pigmentary retinopathy	ORPHA:3363
Focal Segmental Glomerulosclerosis 1	Anemia, Hyperlipidemia, Ascites, Focal segmental glomerulosclerosis, Hyperechogenic kidneys, Prot...	OMIM:603278
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 1	Decreased nerve conduction velocity, Axonal degeneration, Diaphragmatic paralysis, Degeneration o...	OMIM:604320
Cataract 11, Multiple Types	Chorea, Hypertonia, Blindness	OMIM:610623
Malignant Hyperthermia, Susceptibility To, 2	Hyperkalemia, Hyperphosphatemia, Elevated circulating creatine kinase concentration	OMIM:154275
Immunodeficiency 27A	Anemia, Thrombocytosis, Lymphadenopathy, Leukocytosis, Hepatosplenomegaly, Splenomegaly, Hypoalbu...	OMIM:209950
Dystonia, Childhood-Onset, With Optic Atrophy And Basal Ganglia Abnormalities	Paroxysmal dyskinesia, Babinski sign, Optic atrophy, Chorea, Spasticity, Athetosis, Blepharospasm...	OMIM:617282
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss	Jaundice, Hypocalcemia, Elevated circulating gamma-aminobutyric acid concentration, Cholestasis, ...	OMIM:619658
Vocal Cord Paralysis And Ptosis	Vocal cord paralysis	OMIM:193240
Microcephaly-Thin Corpus Callosum-Intellectual Disability Syndrome	Abnormality of retinal pigmentation	ORPHA:397951
Congenital Disorder Of Glycosylation, Type Iio	Cholestatic liver disease, Cirrhosis, Hepatomegaly, Elevated circulating hepatic transaminase con...	OMIM:616828
Retinitis Pigmentosa 35	Rod-cone dystrophy, Reduced visual acuity, Blindness, Nyctalopia	OMIM:610282
Retinitis Pigmentosa 25	Bone spicule pigmentation of the retina, Chorioretinal atrophy, Attenuation of retinal blood vess...	OMIM:602772
Hypertriglyceridemia, Transient Infantile	Hypertriglyceridemia, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Sple...	OMIM:614480
Retinitis Pigmentosa 56	Bone spicule pigmentation of the retina, Pigmentary retinopathy, Attenuation of retinal blood ves...	OMIM:613581
Cone-Rod Dystrophy 8	Macular degeneration, Abnormal optic nerve morphology, Cone/cone-rod dystrophy, Abnormality of re...	OMIM:605549
Charcot-Marie-Tooth Disease, Axonal, Type 2S	Axonal degeneration	OMIM:616155
Glycogen Storage Disease Ib	Enlarged kidney, Hepatomegaly, Pancreatitis, Decreased glomerular filtration rate, Elevated circu...	OMIM:232220
Infantile Neuroaxonal Dystrophy	Optic atrophy, Peripheral axonal neuropathy, Spasticity, Progressive spasticity, Spastic tetrapar...	ORPHA:35069
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia	Peripheral axonal degeneration, Cerebellar atrophy, Decreased number of large peripheral myelinat...	OMIM:208920
Krabbe Disease	Optic atrophy, Hypertonia, Decreased nerve conduction velocity, Decerebrate rigidity, Progressive...	OMIM:245200
Cone-Rod Dystrophy 12	Color vision defect, Central scotoma, Bull's eye maculopathy, Cone/cone-rod dystrophy, Reduced vi...	OMIM:612657
Malignant Hyperthermia, Susceptibility To, 3	Hyperkalemia, Hyperphosphatemia, Elevated circulating creatine kinase concentration	OMIM:154276
Spastic Paraplegia 9A, Autosomal Dominant	Spastic gait, Hoffmann sign, Babinski sign, Lower limb spasticity, Resting tremor, Abnormal upper...	OMIM:601162
Osteoporosis-Macrocephaly-Blindness-Joint Hyperlaxity Syndrome	Optic atrophy, Blindness	ORPHA:2787
Macular Dystrophy, Vitelliform, 3	Macular dystrophy, Color vision defect, Drusen, Choroidal neovascularization, Photophobia, Metamo...	OMIM:608161
Pseudohypoparathyroidism, Type Ii	Hypocalcemia, Hyperphosphatemia	OMIM:203330
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase	Splenomegaly, Hyperlipoproteinemia, Recurrent pancreatitis	OMIM:118830
Mutilating Hereditary Sensory Neuropathy With Spastic Paraplegia	Babinski sign, Impaired pain sensation, Sensory axonal neuropathy, Spasticity, Abnormal autonomic...	ORPHA:139578
Acute Peripheral Arterial Occlusion	Paralysis, Impaired distal tactile sensation, Paresthesia	ORPHA:90064
Retinitis Pigmentosa 3	Perifoveal hypoautofluorescence, Bone spicule pigmentation of the retina, Rod-cone dystrophy	OMIM:300029
Nephrotic Syndrome, Type 2	Hyperlipidemia, Focal segmental glomerulosclerosis, Nephrotic syndrome, Proteinuria, Hypoalbumine...	OMIM:600995
Jalili Syndrome	Optic atrophy, Abnormality of retinal pigmentation	ORPHA:1873
Laurence-Moon Syndrome	Chorioretinal atrophy, Pigmentary retinopathy	OMIM:245800
Bardet-Biedl Syndrome 18	Retinal dystrophy, Renal insufficiency, Cataract, Stage 5 chronic kidney disease, Rod-cone dystrophy	OMIM:615995
Amyotrophic Lateral Sclerosis 21	Decreased nerve conduction velocity, Distal sensory impairment, Abnormal upper motor neuron morph...	OMIM:606070
Macular Dystrophy, Vitelliform, 1	Macular dystrophy, Visual field defect, Reduced visual acuity, Vitelliform-like macular lesions, ...	OMIM:153840
Cone-Rod Dystrophy 2	Constriction of peripheral visual field, Color vision defect, Bone spicule pigmentation of the re...	OMIM:120970
Neuraminidase Deficiency	Hepatomegaly, Cardiomegaly, Vacuolated lymphocytes, Bone-marrow foam cells, Cardiomyopathy, Ascit...	OMIM:256550
Lymphoproliferative Syndrome, X-Linked, 1	Aplastic anemia, Hepatomegaly, Hemophagocytosis, Lymphadenopathy, Pancytopenia, Lymphocytosis, El...	OMIM:308240
Congenital Megacalycosis	Enlarged kidney, Hematuria, Dilatation of renal calices, Recurrent urinary tract infections, Neph...	ORPHA:93109
Galactosemia Iii	Jaundice, Hepatomegaly, Galactosuria, Hypergalactosemia, Splenomegaly, Aminoaciduria	OMIM:230350
Nephrotic Syndrome, Type 9	Glomerular sclerosis, Focal segmental glomerulosclerosis, Proteinuria, Hypoalbuminemia, Steroid-r...	OMIM:615573
Glycoprotein Storage Disease	Splenomegaly	OMIM:232900
Autosomal Recessive Spinocerebellar Ataxia-Blindness-Deafness Syndrome	Optic atrophy, Difficulty walking, Spastic dysarthria, Progressive cerebellar ataxia, Spinocerebe...	ORPHA:95433
Birdshot Chorioretinopathy	Abnormal chorioretinal morphology, Retinal thinning, Choroidal neovascularization, Retinal detach...	ORPHA:179
Ring Chromosome 14 Syndrome	Pigmentary retinopathy	OMIM:616606
Cone-Rod Dystrophy, X-Linked, 3	Color vision defect, Photophobia, Central scotoma, Retinal detachment, Abnormality of macular pig...	OMIM:300476
Joubert Syndrome 28	Optic disc pallor, Pigmentary retinopathy	OMIM:617121
Macular Dystrophy With Central Cone Involvement	Macular dystrophy, Central scotoma, High myopia, Red-green dyschromatopsia, Bull's eye maculopath...	OMIM:616170
Lethal Ataxia With Deafness And Optic Atrophy	Optic atrophy, Tetraplegia, Spinal cord posterior columns myelin loss, Ataxia, Visual impairment,...	ORPHA:1187
Optic Atrophy 12	Optic atrophy, Photophobia, Dyschromatopsia, Reduced visual acuity, Abnormal Ishihara plate test,...	OMIM:618977
Niemann-Pick Disease, Type B	Hypertriglyceridemia, Decreased HDL cholesterol concentration, Sea-blue histiocytosis, Anemia, He...	OMIM:607616
Jalili Syndrome	Bone spicule pigmentation of the retina, Cone/cone-rod dystrophy, Attenuation of retinal blood ve...	OMIM:217080
Sjögren-Larsson Syndrome	Retinopathy, Macular degeneration, Abnormality of retinal pigmentation, Generalized hyperpigmenta...	ORPHA:816
Neurodegeneration With Brain Iron Accumulation 2A	Optic atrophy, Cerebral atrophy, Neuronal loss in central nervous system, Gliosis, Seizure, Cereb...	OMIM:256600
Amyotrophic Lateral Sclerosis 20	Amyotrophic lateral sclerosis	OMIM:615426
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome	Hepatomegaly, Anemia, Splenomegaly, Persistence of hemoglobin F	ORPHA:46532
Leishmaniasis	Hepatomegaly, Anemia, Lymphadenopathy, Elevated circulating hepatic transaminase concentration, P...	ORPHA:507
Amyotrophy, Hereditary Neuralgic	Peripheral axonal degeneration, Axonal degeneration	OMIM:162100
Heimler Syndrome 1	Macular dystrophy, Retinal pigment epithelial mottling	OMIM:234580
Sporadic Creutzfeldt-Jakob Disease	Cerebral atrophy, Neuronal loss in central nervous system, Astrocytosis, Gliosis, Myoclonus	ORPHA:204
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis	Low-molecular-weight proteinuria, Hypercalciuria, Hyposthenuria, Proximal tubulopathy, Beta 2-mic...	OMIM:308990
Combined Saposin Deficiency	Optic atrophy, Hepatomegaly, Splenomegaly	OMIM:611721
Cofs Syndrome	Optic atrophy, Abnormality of retinal pigmentation	ORPHA:1466
Nephrotic Syndrome, Type 15	Minimal change glomerulonephritis, Proteinuria, Hypoalbuminemia, Steroid-resistant nephrotic synd...	OMIM:617609
Hypereosinophilic Syndrome, Idiopathic	Endocardial fibrosis, Hepatomegaly, Restrictive cardiomyopathy, Myeloproliferative disorder, Sple...	OMIM:607685
Machado-Joseph Disease Type 1	Babinski sign, Progressive cerebellar ataxia, Facial-lingual fasciculations, Abnormality of extra...	ORPHA:276238
Machado-Joseph Disease Type 2	Babinski sign, Progressive cerebellar ataxia, Facial-lingual fasciculations, Abnormality of extra...	ORPHA:276241
Paraparetic Variant Of Guillain-Barré Syndrome	Impaired distal proprioception, Peripheral axonal neuropathy, Peripheral demyelination, Paraparesis	ORPHA:231445
Primary Non-Essential Cutis Verticis Gyrata	Seizure, Gliosis	ORPHA:357225
Alg1-Cdg	Decreased liver function, Abnormality of the kidney, Cardiomyopathy, Nephrotic syndrome, Abnormal...	ORPHA:79327
Night Blindness-Skeletal Anomalies-Dysmorphism Syndrome	Abnormality of retinal pigmentation, Heterochromia iridis, Abnormal retinal vascular morphology	ORPHA:1390
Pseudohypoparathyroidism, Type Ia	Cataract, Hyperphosphatemia, Low urinary cyclic AMP response to PTH administration, Hypocalcemic ...	OMIM:103580
Spinocerebellar Ataxia Type 3	Progressive cerebellar ataxia, Abnormality of extrapyramidal motor function, Vocal cord paralysis...	ORPHA:98757
Hereditary Butyrylcholinesterase Deficiency	Paralysis	ORPHA:132
Cone-Rod Dystrophy 15	Constriction of peripheral visual field, Color vision defect, Photophobia, Attenuation of retinal...	OMIM:613660
Alg6-Cdg	Jaundice, Decreased LDL cholesterol concentration, Abnormality of the liver, Hypoalbuminemia, Ret...	ORPHA:79320
Neutrophilia, Hereditary	Neutrophilia, Splenomegaly	OMIM:162830
Intellectual Developmental Disorder And Retinitis Pigmentosa	Bone spicule pigmentation of the retina, Macular degeneration, Attenuation of retinal blood vesse...	OMIM:618195
Autosomal Recessive Spastic Paraplegia Type 69	Cerebral cortical atrophy, Abnormal myelination	ORPHA:401830
Infantile Sialic Acid Storage Disease	Hepatomegaly, Vacuolated lymphocytes, Ascites, Nephrotic syndrome, Splenomegaly, Conjugated hyper...	OMIM:269920
Kenny-Caffey Syndrome, Type 2	Anemia, Transient hypophosphatemia, Retinal calcification, Hypocalcemia, Papilledema, Development...	OMIM:127000
Hemophagocytic Lymphohistiocytosis, Familial, 4	Hypertriglyceridemia, Jaundice, Hepatomegaly, Hemophagocytosis, Anemia, Lymphadenopathy, Thromboc...	OMIM:603552
Canavan Disease	Optic atrophy, Hypertonia, Abnormality of retinal pigmentation, Visual impairment, Blindness	ORPHA:141
Retinitis Pigmentosa 51	Attenuation of retinal blood vessels, Macular degeneration, Bone spicule pigmentation of the reti...	OMIM:613464
Malignant Hyperthermia Of Anesthesia	Hyperkalemia, Acute kidney injury, Cardiomyocyte mitochondrial proliferation, Myoglobinuria, Elev...	ORPHA:423
Hyperbilirubinemia, Shunt, Primary	Jaundice, Hepatomegaly, Hyperbilirubinemia, Anemia of inadequate production, Reticulocytosis, Spl...	OMIM:237800
Peroxisomal Acyl-Coa Oxidase Deficiency	Optic atrophy, Rod-cone dystrophy, Pigmentary retinopathy	OMIM:264470
Bardet-Biedl Syndrome 3	Rod-cone dystrophy, Pigmentary retinopathy	OMIM:600151
Isolated Atp Synthase Deficiency	Optic atrophy, Tetraplegia, Cerebellar atrophy, Spastic paraplegia, Cerebral cortical atrophy, Dy...	ORPHA:254913
Optic Atrophy 15	Optic atrophy, Photophobia, Dyschromatopsia, Central scotoma, Reduced visual acuity, Optic disc p...	OMIM:620583
Carnitine Palmitoyltransferase Ii Deficiency, Infantile	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Macrovesicular hepatic ste...	OMIM:600649
Leukodystrophy, Hypomyelinating, 15	Optic atrophy, Cerebral atrophy, Visual loss, Progressive visual loss, Hypermetropia, Spasticity,...	OMIM:617951
Bile Acid Synthesis Defect, Congenital, 5	Jaundice, Portal fibrosis, Iron deficiency anemia, Hepatomegaly, Elevated circulating hepatic tra...	OMIM:616278
Combined Oxidative Phosphorylation Deficiency 14	Cerebral atrophy, Atrophy/Degeneration affecting the brainstem, Gliosis, Seizure, Cerebellar atro...	OMIM:614946
Cerebrooculofacioskeletal Syndrome 1	Brain atrophy, Gliosis, Seizure, Cerebellar atrophy, Delayed myelination, CNS demyelination, Diff...	OMIM:214150
Linear Verrucous Nevus Syndrome	Abnormality of the kidney, Aplasia/Hypoplasia of the fovea, Retinopathy, Hypophosphatemia, Catara...	ORPHA:2611
Nephronophthisis 19	Hepatomegaly, Nephronophthisis, Cholestasis, Bile duct proliferation, Hyperechogenic kidneys, Spl...	OMIM:616217
Glycogen Storage Disease Ia	Enlarged kidney, Hepatomegaly, Pancreatitis, Decreased glomerular filtration rate, Elevated circu...	OMIM:232200
Diarrhea 13	Hypoalbuminemia, Elevated circulating hepatic transaminase concentration, Hepatic steatosis	OMIM:620357
Usher Syndrome Type 3	Visual loss, Scotoma, Hemianopia, Ataxia, High hypermetropia, Nyctalopia	ORPHA:231183
Meckel Syndrome, Type 8	Pericardial effusion, Polycystic kidney dysplasia, Enlarged kidney, Hyperechogenic kidneys	OMIM:613885
Tricho-Retino-Dento-Digital Syndrome	Abnormality of retinal pigmentation	ORPHA:1264
Adducted Thumbs Syndrome	Cerebral dysmyelination, Myelin-dependent gliosis	OMIM:201550
Blepharoptosis-Myopia-Ectopia Lentis Syndrome	Abnormality of retinal pigmentation	ORPHA:1259
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 6	Peripheral axonal neuropathy, Axonal degeneration	OMIM:620011
Retinitis Pigmentosa 20	Attenuation of retinal blood vessels, Rod-cone dystrophy, Severely reduced visual acuity, Visual ...	OMIM:613794
Macrophage Activation Syndrome	Decreased liver function, Hypertriglyceridemia, Hepatomegaly, Anemia, Hemophagocytosis, Abnormal ...	ORPHA:158061
Retinitis Pigmentosa 14	Bone spicule pigmentation of the retina, Rod-cone dystrophy, Optic disc pallor, Retinal arteriola...	OMIM:600132
Aicardi-Goutieres Syndrome 9	Elevated circulating hepatic transaminase concentration, Ascites, Pericarditis, Left ventricular ...	OMIM:619487
Waardenburg-Shah Syndrome	Premature graying of hair, Aganglionic megacolon, Hypopigmentation of hair, White forelock, Abnor...	ORPHA:897
Isolated Succinate-Coq Reductase Deficiency	Babinski sign, Spasticity, Spastic tetraparesis, Blindness, Frequent falls, Lower limb hypertonia...	ORPHA:3208
Autosomal Recessive Spastic Paraplegia Type 67	Cerebral cortical atrophy, Abnormal myelination	ORPHA:401820
Autosomal Recessive Spastic Paraplegia Type 57	Optic atrophy, Abnormal myelination	ORPHA:431329
Mepan Syndrome	Optic atrophy, Cerebral atrophy, Axial dystonia, Chorea, Spasticity, Cerebellar atrophy, Craniofa...	ORPHA:508093
Impaired Intellectual Development, Truncal Obesity, Retinal Dystrophy, And Micropenis Syndrome	Spasticity, Reduced visual acuity, Retinal dystrophy, Nyctalopia	OMIM:610156
Hypercalcemia, Infantile, 2	Polyuria, Renal phosphate wasting, Hypercalciuria, Medullary nephrocalcinosis, Nephrocalcinosis, ...	OMIM:616963
Wagner Vitreoretinopathy	Optic atrophy, Peripheral tractional retinal detachment, Chorioretinal atrophy, Vitreoretinopathy...	OMIM:143200
Spinocerebellar Ataxia 25	Babinski sign, Oculomotor apraxia, Impaired pain sensation, Abolished vibration sense, Cerebellar...	OMIM:608703
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Optic atrophy, Enlarged kidney, Anemia, Patent foramen ovale, Hypertrophic cardiomyopathy, Nephro...	ORPHA:505248
Hemoglobin H Disease	HbH hemoglobin, Hepatomegaly, Reduced alpha/beta synthesis ratio, Splenomegaly, Hemolytic anemia	OMIM:613978
Infantile-Onset X-Linked Spinal Muscular Atrophy	Degeneration of anterior horn cells, Tongue fasciculations, Abnormal anterior horn cell morphology	ORPHA:1145
Hypomagnesemia 3, Renal	Nephrocalcinosis, Macroscopic hematuria, Stage 5 chronic kidney disease, Elevated circulating cre...	OMIM:248250
Spondyloepiphyseal Dysplasia, Nishimura Type	Hypocalcemia, Hyperphosphatemia	OMIM:618618
Cone-Rod Dystrophy 22	Photophobia, Hyperautofluorescent macular lesion, Bull's eye maculopathy, Attenuation of retinal ...	OMIM:619531
Severe Early-Childhood-Onset Retinal Dystrophy	Color vision defect, Bone spicule pigmentation of the retina, Optic disc drusen, Rhegmatogenous r...	ORPHA:364055
Progressive Familial Intrahepatic Cholestasis	Jaundice, Hepatomegaly, Hypocalcemia, Cholestasis, Splenomegaly	ORPHA:172
Autosomal Recessive Polycystic Kidney Disease	Enlarged kidney, Cholestasis, Ascites, Biliary hyperplasia, Splenomegaly, Oliguria, Abnormal intr...	ORPHA:731
Wolcott-Rallison Syndrome	Hepatomegaly, Jaundice, Iron deficiency anemia, Elevated circulating hepatic transaminase concent...	ORPHA:1667
Neuroleptic Malignant Syndrome	Hyperkalemia, Acute kidney injury, Urinary incontinence, Elevated circulating hepatic transaminas...	ORPHA:94093
Mantle Cell Lymphoma	Splenomegaly, Lymphadenopathy	ORPHA:52416
Hemophagocytic Lymphohistiocytosis, Familial, 1	Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hepatomegaly, Jaundice, Hemophagoc...	OMIM:267700
Leigh Syndrome	Optic atrophy, Gliosis, Seizure, CNS demyelination	OMIM:256000
Heterotaxy, Visceral, 1, X-Linked	Enlarged kidney, Biliary atresia, Pulmonic stenosis, Cardiomegaly, Right atrial isomerism, Transp...	OMIM:306955
Early-Onset Epileptic Encephalopathy And Intellectual Disability Due To Grin2A Mutation	Epileptic spasm, Focal-onset seizure, Bilateral tonic-clonic seizure, Febrile seizure (within the...	ORPHA:289266
Congenital Disorder Of Glycosylation, Type Ib	Cirrhosis, Lymphangiectasis, Hepatomegaly, Proximal tubulopathy, Renal cyst, Hypoalbuminemia, Hep...	OMIM:602579
Birt-Hogg-Dubé Syndrome	Abnormality of retinal pigmentation	ORPHA:122
Hemochromatosis, Type 4	Cirrhosis, Hepatomegaly, Anemia, Cardiomyopathy, Cataract, Increased circulating ferritin concent...	OMIM:606069
Autoinflammation With Infantile Enterocolitis	Increased circulating ferritin concentration, Anemia, Elevated circulating C-reactive protein con...	OMIM:616050
Cone-Rod Dystrophy 10	Attenuation of retinal blood vessels, Macular degeneration, Bone spicule pigmentation of the reti...	OMIM:610283
Irvan Syndrome	Optic atrophy, Retinal exudate, Photophobia, Retinal detachment, Vitreous floaters, Tractional re...	ORPHA:209943
Immunodeficiency 32B	Hepatomegaly, Anemia, Monocytopenia, Neutrophilia, Thrombocytopenia, Splenomegaly, Hypoalbuminemi...	OMIM:226990
Tick-Borne Encephalitis	Hyperkinetic movements, Abnormal glossopharyngeal nerve morphology, Myelitis, Photophobia, Abnorm...	ORPHA:297
Mitochondrial Complex I Deficiency, Nuclear Type 4	Brain atrophy, Spasticity, Ataxia, Myoclonus, Blindness	OMIM:618225
Kaposiform Lymphangiomatosis	Enlarged kidney, Anemia, Abnormality of the lymphatic system, Abnormal spleen morphology, Abnorma...	ORPHA:464329
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism	Elevated urinary delta-aminolevulinic acid, Jaundice, Splenomegaly, Nonspherocytic hemolytic anemia	OMIM:206400
Retinitis Pigmentosa 18	Scotoma, Nyctalopia, Retinal arteriolar constriction, Rod-cone dystrophy, Progressive visual fiel...	OMIM:601414
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 3	Seizure, Gliosis	OMIM:608033
Microcephaly-Cleft Palate-Abnormal Retinal Pigmentation Syndrome	Abnormality of retinal pigmentation	ORPHA:2521
Tyrosinemia Type 1	Hepatomegaly, Generalized aminoaciduria, Hepatocellular carcinoma, Acute hepatic failure, Splenom...	ORPHA:882
Infantile Refsum Disease	Optic atrophy, Constriction of peripheral visual field, Spasticity, Facial palsy, Ataxia, Rod-con...	ORPHA:772
Rabies	Vocal cord paresis, Cerebral palsy, Paresthesia	ORPHA:770
Galactose Mutarotase Deficiency	Decreased liver function, Hepatomegaly, Hypergalactosemia, Cholestasis, Cataract	ORPHA:570422
Retinal Dystrophy And Obesity	Retinal dystrophy, Retinal detachment, Retinal dots, Attenuation of retinal blood vessels, Peripa...	OMIM:616188
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency	Decreased liver function, Cirrhosis, Hepatomegaly, Elevated circulating hepatic transaminase conc...	ORPHA:367
Canavan Disease	Optic atrophy, Brain atrophy, Opisthotonus, Visual impairment, Abnormal pyramidal sign, Blindness	OMIM:271900
Familial Cervical Artery Dissection	Paralysis, Facial palsy, Paresthesia	ORPHA:36382
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts	Hepatomegaly, Ectopic kidney, Optic disc pallor, Cataract, Ventricular septal defect, Cystic rena...	OMIM:613730
Encephalopathy Due To Prosaposin Deficiency	Hepatomegaly, Splenomegaly	ORPHA:139406
Refsum Disease, Classic	Cardiomegaly, Cardiomyopathy, Elevated circulating phytanic acid concentration, Abnormal renal ph...	OMIM:266500
Morm Syndrome	Abnormality of the kidney, Retinal dystrophy, Retinal atrophy, Cataract, Micropenis	ORPHA:75858
Usher Syndrome, Type 1M	Drusen, Optic disc pallor, Nyctalopia	OMIM:618632
Mulibrey Nanism	Hepatomegaly, Astigmatism, Corneal dystrophy, Ascites, Pericardial constriction, Myocardial fibro...	OMIM:253250
Hemochromatosis, Type 2A	Cirrhosis, Hepatomegaly, Cardiomyopathy, Increased circulating iron concentration, Splenomegaly, ...	OMIM:602390
Mitochondrial Complex I Deficiency, Nuclear Type 36	Perimembranous ventricular septal defect, Hyperalaninemia, Cardiomegaly, Hyperprolinemia, Optic d...	OMIM:619170
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency	Hypertriglyceridemia, Abnormal circulating lipid concentration, Decreased HDL cholesterol concent...	ORPHA:247598
Variegate Porphyria	Paralysis	OMIM:176200
Oculocutaneous Albinism Type 1B	Hypopigmentation of hair, Hypopigmentation of the skin, Abnormal optic nerve morphology, Iris hyp...	ORPHA:79434
Nephrotic Syndrome, Type 11	Hypercholesterolemia, Minimal change glomerulonephritis, Focal segmental glomerulosclerosis, Neph...	OMIM:616730
Hemochromatosis, Type 1	Cirrhosis, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Hepatocellular ...	OMIM:235200
Paternal Uniparental Disomy Of Chromosome 1	Macular dystrophy, Enlarged kidney, Abnormal retinal morphology on macular OCT, Episodic hemolyti...	ORPHA:251004
Fanconi-Bickel Syndrome	Hypertriglyceridemia, Hepatomegaly, Generalized aminoaciduria, Increased hepatic glycogen content...	ORPHA:2088
Cholestasis-Lymphedema Syndrome	Cirrhosis, Jaundice, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Hyper...	OMIM:214900
Retinal Cone Dystrophy 3B	Scotoma, Photophobia, Cone/cone-rod dystrophy, Reduced visual acuity, Myopia, Macular atrophy, Ny...	OMIM:610356
Sporadic Adult-Onset Ataxia Of Unknown Etiology	Abnormal vestibulo-ocular reflex, Babinski sign, Akinesia, Cerebellar cortical atrophy, Visual lo...	ORPHA:247234
Temporal Arteritis	Retinal arteritis, Blindness	OMIM:187360
Carnitine Deficiency, Systemic Primary	Dicarboxylic aciduria, Hepatomegaly, Decreased circulating carnitine concentration, Microvesicula...	OMIM:212140
Anemia, Sideroblastic, 3, Pyridoxine-Refractory	Cirrhosis, Jaundice, Anemia, Hepatomegaly, Elevated circulating hepatic transaminase concentratio...	OMIM:616860
Tay-Sachs Disease	Fasciculations, Incoordination, Decerebrate rigidity, Cerebellar atrophy, Myoclonus, Clumsiness, ...	ORPHA:845
Rajab Interstitial Lung Disease With Brain Calcifications 2	Hypertriglyceridemia, Elevated circulating hepatic transaminase concentration, Hepatosplenomegaly...	OMIM:619013
Splenoportal Vascular Anomalies	Cirrhosis, Anomalous splenoportal venous system, Ascites, Hyperammonemia, Splenomegaly, Hepatic f...	OMIM:271500
Blindness-Scoliosis-Arachnodactyly Syndrome	Retinal detachment, Abnormality of retinal pigmentation	ORPHA:171844
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement	Optic atrophy, Seizure, Abnormal myelination	ORPHA:352682
Usher Syndrome	Cerebral cortical atrophy, Abnormality of retinal pigmentation, Ataxia, Visual field defect, Visu...	ORPHA:886
Optic Pathway Glioma	Optic atrophy, Visual loss, Papilledema, Visual field defect, Reduced visual acuity, Neurofibroma...	ORPHA:2086
Neuropathy, Hereditary Motor And Sensory, Type Via, With Optic Atrophy	Optic atrophy, Steppage gait, Color vision defect, Distal sensory impairment, Central scotoma, Po...	OMIM:601152
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)	Jaundice, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Generalized amin...	OMIM:251880
Malignant Migrating Focal Seizures Of Infancy	Cerebral atrophy, Epileptic spasm, Focal emotional seizure with laughing, Bilateral tonic-clonic ...	ORPHA:293181
Enhanced S-Cone Syndrome	Vitreoretinopathy, Macular edema, Pigmentary retinopathy, Retinoschisis	OMIM:268100
Cone-Rod Dystrophy 21	Photophobia, Retinal dystrophy, Reduced visual acuity, Macular atrophy, Nyctalopia	OMIM:616502
Bardet-Biedl Syndrome 21	Constriction of peripheral visual field, Retinal thinning, Hyperautofluorescent macular lesion, R...	OMIM:617406
Leukodystrophy, Demyelinating, Adult-Onset, Autosomal Dominant	Gliosis, Symmetric peripheral demyelination, Leukodystrophy, Corpus callosum atrophy	OMIM:169500
Mitochondrial Dna Depletion Syndrome 18	Axonal degeneration	OMIM:618811
Renal Dysplasia	Pelvic mass, Enlarged kidney, Urinary incontinence, Renal hypoplasia/aplasia, Abnormal nephron mo...	ORPHA:93108
Fibronectin Glomerulopathy	Glomerulopathy, Abnormal glomerular mesangium morphology, Nephrotic syndrome, Microscopic hematur...	ORPHA:84090
Alpha-Methylacyl-Coa Racemase Deficiency	Rod-cone dystrophy, Pigmentary retinopathy	OMIM:614307
Spinocerebellar Ataxia, Autosomal Recessive 27	Cerebral cortical atrophy, Gliosis, Cerebellar atrophy	OMIM:618369
Ramon Syndrome	Abnormality of retinal pigmentation	ORPHA:3019
Cystinosis	Hypokalemia, Corneal opacity, Nephropathy, Portal hypertension, Retinopathy, Proteinuria, Hypopho...	ORPHA:213
Alpha-Heavy Chain Disease	Hepatomegaly, Anemia, Lymphadenopathy, Hypocalcemia, Ascites, Splenomegaly	ORPHA:100025
Congenital Disorder Of Glycosylation, Type Il	Hepatomegaly, Polycystic kidney dysplasia, Ascites, Hypocholesterolemia, Pericardial effusion, Sp...	OMIM:608776
Retinitis Pigmentosa 72	Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels, Peripapillary atro...	OMIM:616469
Long-Olsen-Distelmaier Syndrome	Cardiomegaly, Microspherophakia, Optic nerve hypoplasia, Elevated circulating alanine aminotransf...	OMIM:620609
Choroidal Atrophy-Alopecia Syndrome	Abnormality of retinal pigmentation, Patchy atrophy of the retinal pigment epithelium	ORPHA:1433
Macular Dystrophy, Retinal, 4	Reduced visual acuity, Reduced OCT-measured foveal thickness, Choroidal neovascularization, Nycta...	OMIM:619977
Immunodeficiency 104	Splenomegaly, Hepatomegaly, Lymphadenopathy, T lymphocytopenia	OMIM:608971
Sanjad-Sakati Syndrome	Astigmatism, Hypoplasia of penis, Hypocalcemia, Corneal opacity, Hyperphosphatemia	ORPHA:2323
Retinitis Pigmentosa 60	Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels, Retinal pigment ep...	OMIM:613983
Galloway-Mowat Syndrome 8	Hematuria, Focal segmental glomerulosclerosis, Nephrotic syndrome, Renal tubular atrophy, Protein...	OMIM:618349
Spastic Paraplegia 50, Autosomal Recessive	Seizure, Gliosis, Cerebellar atrophy, Optic disc pallor	OMIM:612936
Myasthenic Syndrome, Congenital, 16	Periodic paralysis, Gait disturbance	OMIM:614198
Spastic Paraplegia 15, Autosomal Recessive	Spastic gait, Babinski sign, Lower limb spasticity, Paraplegia, Peripheral axonal neuropathy, Mac...	OMIM:270700
Adult-Onset Chronic Progressive External Ophthalmoplegia With Mitochondrial Myopathy	Abnormality of the spinocerebellar tracts, Pigmentary retinopathy	ORPHA:329336
Amyloidosis, Familial Visceral	Hepatomegaly, Hematuria, Cholestasis, Nephrotic syndrome, Splenomegaly, Proteinuria, Renal amyloi...	OMIM:105200
Pearson Syndrome	Elevated circulating hepatic transaminase concentration, Cardiomyopathy, Reticulocytosis, Bone ma...	ORPHA:699
Liver Failure, Infantile, Transient	Jaundice, Macrovesicular hepatic steatosis, Hepatomegaly, Dicarboxylic aciduria, Elevated circula...	OMIM:613070
Spinocerebellar Ataxia Type 7	Cerebral atrophy, Babinski sign, Abnormal fundus morphology, Visual loss, Photophobia, Macular de...	ORPHA:94147
Retinal Dystrophy, Iris Coloboma, And Comedogenic Acne Syndrome	Tritanomaly, Retinal dystrophy, Reduced visual acuity, Absent foveal reflex, Peripheral retinal a...	OMIM:615147
Retinitis Pigmentosa 66	Constriction of peripheral visual field, Bone spicule pigmentation of the retina, Central scotoma...	OMIM:615233
Oculocutaneous Albinism Type 2	Blue irides, Optic nerve misrouting, Macular hypopigmentation, Iris transillumination defect, Hyp...	ORPHA:79432
Hypoparathyroidism-Retardation-Dysmorphism Syndrome	Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures, Micropenis	OMIM:241410
Retinitis Punctata Albescens	Yellow/white lesions of the retina, Cystoid macular edema, Retinal atrophy, Attenuation of retina...	ORPHA:52427
Late-Onset Retinal Degeneration	Tritanomaly, Drusen, Choroidal neovascularization, Visual loss, Patchy atrophy of the retinal pig...	ORPHA:67042
Alpha-1-Antitrypsin Deficiency	Cirrhosis, Elevated circulating hepatic transaminase concentration, Hepatocellular carcinoma, Spl...	OMIM:613490
Retinitis Pigmentosa 59	Constriction of peripheral visual field, Cystoid macular edema, Spasticity, Reduced visual acuity...	OMIM:613861
Autosomal Dominant Hypocalcemia	Optic atrophy, Hypercalciuria, Hypocalcemia, Hypermagnesiuria, Nephrocalcinosis, Hypomagnesemia, ...	ORPHA:428
Retinitis Pigmentosa	Optic atrophy, Bone spicule pigmentation of the retina, Photophobia, Progressive night blindness,...	ORPHA:791
Idiopathic Steroid-Resistant Nephrotic Syndrome	Hypertriglyceridemia, Acute kidney injury, Abnormal circulating lipid concentration, Hypercholest...	ORPHA:567548
Pyruvate Dehydrogenase E1-Alpha Deficiency	Cerebral atrophy, Gliosis, Seizure, Infantile spasms, Bilateral tonic-clonic seizure, Basal gangl...	ORPHA:79243
3-Hydroxy-3-Methylglutaryl-Coa Synthase-2 Deficiency	Hepatomegaly, Dicarboxylic aciduria, Elevated circulating hepatic transaminase concentration, Inc...	OMIM:605911
Usher Syndrome, Type Iiia	Visual field defect, Rod-cone dystrophy, Reduced visual acuity, Nyctalopia	OMIM:276902
Spinocerebellar Ataxia, Autosomal Recessive 2	Cerebellar vermis atrophy, Gliosis	OMIM:213200
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Hypouricemia, Glycosuria, ...	OMIM:616026
Pheochromocytoma/Paraganglioma Syndrome 2	Vagal paraganglioma, Vocal cord paralysis, Glomus tympanicum paraganglioma, Glomus jugular tumor,...	OMIM:601650
Glossopharyngeal Neuralgia	Abnormal glossopharyngeal nerve morphology, Dysesthesia, Vocal cord paralysis, Cranial nerve comp...	ORPHA:221098
Calciphylaxis	Stage 5 chronic kidney disease, Hyperphosphatemia	ORPHA:280062
Late Infantile Neuronal Ceroid Lipofuscinosis	Cerebral atrophy, Visual loss, Inability to walk, Cortical myoclonus, Spasticity, Cerebellar atro...	ORPHA:168491
Cerebellar Ataxia-Hypogonadism Syndrome	Optic atrophy, Abnormality of retinal pigmentation	ORPHA:1173
Hemophagocytic Lymphohistiocytosis, Familial, 2	Hypertriglyceridemia, Jaundice, Hepatomegaly, Hemophagocytosis, Anemia, Pancytopenia, Lymphadenop...	OMIM:603553
Mitochondrial Complex Iv Deficiency, Nuclear Type 20	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Hyperalaninemia, Cardiomeg...	OMIM:619064
Refractory Celiac Disease	Normocytic anemia, Elevated circulating hepatic transaminase concentration, Iron deficiency anemi...	ORPHA:398063
Retinitis Pigmentosa 75	Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Rod-cone dystrophy	OMIM:617023
Juvenile Paget Disease	Optic atrophy, Abnormality of retinal pigmentation, Melanocytic nevus	ORPHA:2801
Charcot-Marie-Tooth Disease, X-Linked Recessive, 3	Steppage gait, Decreased nerve conduction velocity, Distal sensory impairment, Paraparesis	OMIM:302802
Neurocutaneous Melanocytosis	Syringomyelia, Abnormality of retinal pigmentation, Chorioretinal coloboma, Melanocytic nevus, Ge...	ORPHA:2481
Autoimmune Lymphoproliferative Syndrome, Type Iii	Autoimmune hemolytic anemia, Stage 5 chronic kidney disease, Hepatomegaly, Mediastinal lymphadeno...	OMIM:615559
Nephrotic Syndrome, Type 6	Tubulointerstitial fibrosis, Minimal change glomerulonephritis, Focal segmental glomerulosclerosi...	OMIM:614196
Sickle Cell Disease	Jaundice, Hepatomegaly, Hematuria, Cholelithiasis, Leukocytosis, Splenic infarction, Retinopathy,...	OMIM:603903
Persistent Polyclonal B-Cell Lymphocytosis	Lymphocytosis, Hepatomegaly, Splenomegaly	OMIM:606445
Vitreoretinochoroidopathy	Retinal detachment, Abnormality of chorioretinal pigmentation, Retinal arteriolar occlusion, Reti...	OMIM:193220
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency	Chronic hemolytic anemia, Anemia, Reduced red cell pyruvate kinase level, Reticulocytosis, Poikil...	ORPHA:766
Mitochondrial Complex I Deficiency, Nuclear Type 11	Pigmentary retinopathy	OMIM:618234
Microphthalmia-Brain Atrophy Syndrome	Cerebellar vermis atrophy, Spasticity, Atrophy/Degeneration affecting the brainstem, Corpus callo...	ORPHA:77299
Developmental And Epileptic Encephalopathy 3	Cerebral atrophy, Generalized myoclonic seizure, Brain atrophy, Seizure, Delayed myelination	OMIM:609304
Optic Atrophy-Ataxia-Peripheral Neuropathy-Global Developmental Delay Syndrome	Optic atrophy, Hypertonia, Central scotoma, Spasticity, Cerebellar atrophy, Gait ataxia, Diffuse ...	ORPHA:543470
Spondylometaphyseal Dysplasia, Axial	Optic atrophy, Cone/cone-rod dystrophy, Splenomegaly, Retinal degeneration, Rod-cone dystrophy	OMIM:602271
Sea-Blue Histiocyte Disease	Cirrhosis, Sea-blue histiocytosis, Elevated circulating alanine aminotransferase concentration, T...	OMIM:269600
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor	Nephroblastoma, Enlarged kidney	OMIM:618272
Obesity, Hyperphagia, And Developmental Delay	Delayed myelination, Generalized non-motor (absence) seizure, Seizure	OMIM:613886
Homocystinuria-Megaloblastic Anemia, Cble Complementation Type	Cerebral atrophy, Hypertonia, Hyperkinetic movements, Gait disturbance, Cerebral cortical atrophy...	OMIM:236270
Retinal Dystrophy With Or Without Macular Staphyloma	Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Retinal pigment ep...	OMIM:617547
Familial Hemophagocytic Lymphohistiocytosis	Cholestatic liver disease, Decreased liver function, Hypertriglyceridemia, Jaundice, Hepatomegaly...	ORPHA:540
Congenital Rubella Syndrome	Atrial septal defect, Jaundice, Hepatomegaly, Anemia, Corneal opacity, Abnormality of retinal pig...	ORPHA:290
Igg4-Related Kidney Disease	Decreased liver function, Enlarged kidney, Sclerosing cholangitis, Pericarditis, Elevated circula...	ORPHA:449395
Harderoporphyria	Hepatomegaly, Increased urine harderoporphyrin level, Increased urinary porphobilinogen, Red urin...	OMIM:618892
Full Nf2-Related Schwannomatosis	Spinal cord tumor, Somatic sensory dysfunction, Retinal hamartoma, Visual loss, Peripheral schwan...	ORPHA:637
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-	Optic atrophy, Hepatomegaly, Pancreatitis, Anemia, Cardiomyopathy, Hyperammonemia, Thrombocytopen...	ORPHA:79312
Retinitis Pigmentosa 37	Cystoid macular degeneration, Rod-cone dystrophy, Pigmentary retinopathy	OMIM:611131
Neonatal Severe Primary Hyperparathyroidism	Aminoaciduria, Hepatomegaly, Splenomegaly	ORPHA:417
Alport Syndrome 3A, Autosomal Dominant	Hematuria, Anterior polar cataract, Azotemia, Nephrotic syndrome, Microscopic hematuria, Thickene...	OMIM:104200
Red Cell Phospholipid Defect With Hemolysis	Hyperbilirubinemia, Intermittent jaundice, Splenomegaly, Reticulocytosis	OMIM:179700
Galactosemia I	Decreased liver function, Increased level of galactitol in red blood cells, Cirrhosis, Hepatomega...	OMIM:230400
Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Thin Corpus Callosum	Optic atrophy, Epileptic spasm, Atrophy/Degeneration affecting the brainstem, Gliosis, Neuronal l...	OMIM:617193
Exudative Vitreoretinopathy 1	Posterior vitreous detachment, Retinal exudate, Retinal detachment, Vitreous floaters, Blindness,...	OMIM:133780
Congenital Bile Acid Synthesis Defect Type 1	Cirrhosis, Jaundice, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Bilia...	ORPHA:79301
Coenzyme Q10 Deficiency, Primary, 3	Nephrotic syndrome, Hypoalbuminemia, Proteinuria	OMIM:614652
Hurler-Scheie Syndrome	Hepatomegaly, Abnormal heart valve morphology, Abnormality of the tonsils, Corneal opacity, Cardi...	ORPHA:93476
Cone-Rod Dystrophy 13	Color vision defect, Photophobia, Macular degeneration, Cone/cone-rod dystrophy, Reduced visual a...	OMIM:608194
Achromatopsia 7	Achromatopsia, Photophobia, Central scotoma, Hypoplasia of the fovea, Reduced visual acuity, Abse...	OMIM:616517
Carnitine Palmitoyltransferase I Deficiency	Hepatomegaly, Dicarboxylic aciduria, Elevated circulating hepatic transaminase concentration, Ren...	OMIM:255120
Bilateral Polymicrogyria	Abnormal glossopharyngeal nerve morphology, Spastic hemiparesis, Cerebellar ataxia associated wit...	ORPHA:268940
Bardet-Biedl Syndrome 6	Rod-cone dystrophy, Pigmentary retinopathy	OMIM:605231
Retinitis Pigmentosa 85	Progressive night blindness, Rod-cone dystrophy, Reduced visual acuity	OMIM:618345
Mpi-Cdg	Decreased liver function, Hepatomegaly, Portal hypertension, Hypoalbuminemia, Hepatic fibrosis	ORPHA:79319
Attrv30M Amyloidosis	Vitreous floaters, Cardiomyopathy, Abnormal renal physiology, Cardiomegaly, Nephropathy	ORPHA:85447
Hyperparathyroidism, Neonatal Severe	Polyuria, Calcinosis, Hepatomegaly, Anemia, Hypercalciuria, Hyperphosphaturia, Hypercalcemia, Spl...	OMIM:239200
Cholestasis-Lymphedema Syndrome	Cirrhosis, Jaundice, Hepatomegaly, Abnormality of the lymphatic system, Hyperlipidemia, Portal hy...	ORPHA:1414
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma	Cystoid macular degeneration, Constriction of peripheral visual field, Hypermetropia, Retinal deg...	OMIM:267760
Congenital Disorder Of Glycosylation, Type Ih	Decreased liver function, Perimembranous ventricular septal defect, Hepatomegaly, Anemia, Cholest...	OMIM:608104
Al Amyloidosis	Abnormality of the kidney, Renal interstitial amyloid deposits, Hepatomegaly, Anemia, Increased c...	ORPHA:85443
Immunodeficiency 69	Increased circulating ferritin concentration, Anemia, Hemophagocytosis, Pancytopenia, Leukocytosi...	OMIM:618963
Autosomal Dominant Kenny-Caffey Syndrome	Hypocalcemic seizures, Anemia, Retinal calcification, Papilledema, Developmental cataract, Hypoca...	ORPHA:93325
Mitochondrial Complex Iv Deficiency, Nuclear Type 6	Gliosis	OMIM:615119
Long Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency	Retinopathy, Abnormal chorioretinal morphology, Abnormality of retinal pigmentation, Chorioretina...	ORPHA:5
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of	Hepatomegaly, Dicarboxylic aciduria, Exercise-induced myoglobinuria, Periportal fibrosis, Decreas...	OMIM:201475
Cirrhotic Cardiomyopathy	Left atrial enlargement, Abnormal circulating B-type natriuretic peptide concentration, Cirrhosis...	ORPHA:57777
Thanatophoric Dysplasia, Glasgow Variant	Cataract, Anemia, Hepatosplenomegaly	OMIM:273680
Hydrops, Lactic Acidosis, And Sideroblastic Anemia	Decreased liver function, Anemia, Hematuria, Increased mean corpuscular volume, Ventricular septa...	OMIM:617021
Hemorrhagic Fever-Renal Syndrome	Hyperkalemia, Acute kidney injury, Anemia, Decreased glomerular filtration rate, Acute tubulointe...	ORPHA:340
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells	Decreased helper T cell proportion, Hypersplenism, Splenomegaly, Pancytopenia	OMIM:183350
Chromosome Xp11.3 Deletion Syndrome	Optic atrophy, Moderate myopia, Constriction of peripheral visual field, Blindness, Attenuation o...	OMIM:300578
Exudative Vitreoretinopathy 4	Posterior vitreous detachment, Retinal exudate, Tractional retinal detachment, Exudative vitreore...	OMIM:601813
Acrodysostosis 1 With Or Without Hormone Resistance	Optic atrophy, Hyperphosphatemia, Blue irides, Unilateral renal agenesis	OMIM:101800
Cerebral Creatine Deficiency Syndrome 2	Hypertonia, Lower limb spasticity, Tremor, Paraparesis, Progressive extrapyramidal movement disor...	OMIM:612736
Osteoporosis-Pseudoglioma Syndrome	Abnormal vitreous humor morphology, Retinal detachment, Exudative retinopathy, Waddling gait, Los...	ORPHA:2788
Erythroleukemia, Familial, Susceptibility To	Hepatomegaly, Anemia, Acute myeloid leukemia, Thrombocytopenia, Splenomegaly, Erythroid hyperplas...	OMIM:133180
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome	Autoimmune hemolytic anemia, Lymphadenopathy, Splenomegaly, Lymphopenia, Autoimmune thrombocytope...	ORPHA:444463
Familial Atrial Myxoma	Jaundice, Bacterial endocarditis, Cardiac myxoma, Cholestasis, Ascites, Pulmonic valve myxoma, Ca...	ORPHA:615
Genetic Steroid-Resistant Nephrotic Syndrome	Minimal change glomerulonephritis, Focal segmental glomerulosclerosis, Proteinuria, Peritonitis, ...	ORPHA:656
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 2	Babinski sign, Difficulty walking, Broad-based gait, Atrophy/Degeneration affecting the brainstem...	OMIM:616479
Optic Atrophy 7 With Or Without Auditory Neuropathy	Optic atrophy, Constriction of peripheral visual field, Dyschromatopsia, Central scotoma, Reduced...	OMIM:612989
Gaucher Disease, Atypical, Due To Saposin C Deficiency	Hepatomegaly, Anemia, Thrombocytopenia, Splenomegaly, Hypocholesterolemia, Hypersplenism	OMIM:610539
Acute Zonal Occult Outer Retinopathy	Visual loss, Central scotoma, Marcus Gunn pupil, Visual field defect, Reduced visual acuity, Reti...	ORPHA:284454
Episodic Ataxia Type 6	Photophobia, Cerebellar atrophy, Ataxia, Reduced visual acuity, Hemiplegia, Slurred speech, Diplopia	ORPHA:209967
Neonatal Adrenoleukodystrophy	Optic atrophy, Abnormality of retinal pigmentation	ORPHA:44
Mucous Membrane Pemphigoid	Blindness	ORPHA:46486
Intellectual Developmental Disorder, Autosomal Dominant 56	Bradykinesia, Pontocerebellar atrophy, Inability to walk, Lower limb spasticity, Oromotor apraxia...	OMIM:617854
Reese Retinal Dysplasia	Remnants of the hyaloid vascular system, Retinal dysplasia	OMIM:266400
Nephrotic Syndrome, Type 3	Focal segmental glomerulosclerosis, Nephrotic syndrome, Proteinuria, Hypoalbuminemia, Diffuse mes...	OMIM:610725
Cholesteryl Ester Storage Disease	Hypertriglyceridemia, Cirrhosis, Jaundice, Hepatomegaly, Splenomegaly, Hypercholesterolemia, Hepa...	ORPHA:75234
Mu-Heavy Chain Disease	Hepatomegaly, Anemia, Lymphadenopathy, Bence Jones Proteinuria, Splenomegaly, Abnormal B cell cou...	ORPHA:100024
Kufor-Rakeb Syndrome	Bradykinesia, Babinski sign, Hypertonia, Akinesia, Distal sensory impairment, Torticollis, Spasti...	OMIM:606693
Zika Virus Disease	Optic disc hypoplasia, Myelitis, Chorioretinal atrophy, Abnormal optic disc morphology, Absent fo...	ORPHA:448237
Beta-Thalassemia, Dominant Inclusion Body Type	Hepatomegaly, Decreased mean corpuscular hemoglobin concentration, Persistence of hemoglobin F, E...	OMIM:603902
Gyrate Atrophy Of Choroid And Retina	Constriction of peripheral visual field, Chorioretinal hyperpigmentation, Chorioretinal degenerat...	ORPHA:414
Hemolytic Disease Of Fetus And Newborn, Rh-Induced	Fetal ascites, Hepatomegaly, Splenomegaly	OMIM:619462
Lipodystrophy, Congenital Generalized, Type 3	Hypertriglyceridemia, Hepatomegaly, Hypercholesterolemia, Hypocalcemia, Hepatosplenomegaly, Splen...	OMIM:612526
Basal Ganglia Disease, Biotin-Thiamine Responsive	Babinski sign, Hypertonia, Truncal titubation, Inability to walk, Chorea, Facial palsy, Craniofac...	OMIM:607483
Idiopathic Camptocormia	Cerebral atrophy, Syringomyelia, Myelitis, Dystonia, Parkinsonism, Amyotrophic lateral sclerosis	ORPHA:1320
Pseudoxanthoma Elasticum-Like Skin Manifestations With Retinitis Pigmentosa	Abnormal fundus morphology, Absent retinal pigment epithelium, Abnormal optic nerve morphology, A...	ORPHA:436274
Cystinosis, Nephropathic	Recurrent corneal erosions, Generalized aminoaciduria, Retinopathy, Renal Fanconi syndrome, Corne...	OMIM:219800
Oculopharyngodistal Myopathy 3	Pigmentary retinopathy	OMIM:619473
Sandhoff Disease	Orthostatic hypotension, Impaired temperature sensation, Fasciculations, Spasticity, Upper motor ...	OMIM:268800
Hemoglobin D Disease	Anemia, HbS hemoglobin, Reduced alpha/beta synthesis ratio, Sickled erythrocytes, Decreased mean ...	ORPHA:90039
Bothnia Retinal Dystrophy	Macular degeneration, Retinal dystrophy, Nyctalopia	OMIM:607475
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3	Polyuria, Hyperphosphatemia, Hypercalcemia, Nephrolithiasis	OMIM:617994
Acrocephalopolydactylous Dysplasia	Enlarged kidney, Hepatomegaly, Cystic renal dysplasia, Ascites, Hepatic fibrosis, Pancreatic fibr...	OMIM:200995
Fanconi-Bickel Syndrome	Intrahepatic cholestasis, Hepatomegaly, Increased serum bile acid concentration, Generalized amin...	OMIM:227810
Trimethylaminuria	Trimethylaminuria, Anemia, Splenomegaly, Neutropenia	OMIM:602079
Diaphanospondylodysostosis	Enlarged kidney, Abnormal liver lobulation, Nephroblastomatosis, Nephrogenic rest, Horseshoe kidn...	OMIM:608022
Autosomal Dominant Optic Atrophy And Cataract	Optic atrophy, Tritanomaly, Central scotoma, Resting tremor, Positive Romberg sign, Extrapyramida...	ORPHA:67036
Meacham Syndrome	Enlarged kidney, Transposition of the great arteries, Dextrocardia, Cardiac total anomalous pulmo...	OMIM:608978
Cholestasis, Progressive Familial Intrahepatic, 3	Cirrhosis, Jaundice, Intrahepatic cholestasis, Portal fibrosis, Hepatomegaly, Elevated circulatin...	OMIM:602347
Spinocerebellar Ataxia, Autosomal Recessive 3	Ataxia, Blindness	OMIM:271250
Retinitis Pigmentosa	Constriction of peripheral visual field, Rod-cone dystrophy, Nyctalopia, Abnormality of fundus pi...	OMIM:268000
Chromosome Xq21 Deletion Syndrome	Constriction of peripheral visual field, Chorioretinal degeneration, Chorioretinal atrophy, Choro...	OMIM:303110
Wolman Disease	Hepatomegaly, Acute hepatic failure, Splenomegaly	OMIM:620151
Medium Chain Acyl-Coa Dehydrogenase Deficiency	Decreased liver function, Hepatomegaly, Dicarboxylic aciduria, Elevated circulating hepatic trans...	ORPHA:42
Corpus Callosum Agenesis-Neuronopathy Syndrome	Abnormality of retinal pigmentation	ORPHA:1496
Progressive Epilepsy-Intellectual Disability Syndrome, Finnish Type	Cerebral atrophy, Inability to walk, Cerebellar atrophy, Frequent falls, Gait ataxia, Optic disc ...	ORPHA:1947
Citrullinemia Type Ii	Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hepatomegaly, Pancreatitis, Elevat...	ORPHA:247585
Japanese Encephalitis	Pill-rolling tremor, Hypertonia, Paralysis, Hyperintensity of MRI T2 signal of the spinal cord, R...	ORPHA:79139
Cerebral Cavernous Malformations 3	Paralysis	OMIM:603285
Vacterl Association, X-Linked, With Or Without Hydrocephalus	Enlarged kidney, Transposition of the great arteries, Atrioventricular canal defect, Dextrocardia...	OMIM:314390
Cardiac-Urogenital Syndrome	Atrial septal defect, Enlarged kidney, Mesocardia, Penoscrotal hypospadias, Partial anomalous pul...	OMIM:618280
Mitochondrial Complex I Deficiency, Nuclear Type 39	Perimembranous ventricular septal defect, Anemia, Hypospadias, Hypertrophic cardiomyopathy, Cardi...	OMIM:620135
Combined Hamartoma Of The Retina And Retinal Pigment Epithelium	Vitreoretinopathy, Abnormal optic disc morphology, Reduced visual acuity, Retinal vascular tortuo...	ORPHA:440727
Congenital Muscular Dystrophy With Intellectual Disability	Facial palsy, Pigmentary retinopathy	ORPHA:370968
Hereditary Fructose Intolerance	Hypermagnesemia, Jaundice, Hepatomegaly, Hyperuricemia, Chronic hepatic failure, Hypophosphatemia...	ORPHA:469
Fleck Retina, Familial Benign	Retinal flecks, Visual impairment, Nyctalopia	OMIM:228980
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy	Decreased liver function, Intrahepatic cholestasis, Jaundice, Duplicated collecting system, Eleva...	OMIM:617093
Autosomal Recessive Spastic Paraplegia Type 70	Abnormal myelination	ORPHA:401835
Nanophthalmos 4	Optic disc drusen, Reduced visual acuity, Hypermetropia	OMIM:615972
Autosomal Recessive Spastic Paraplegia Type 15	Retinal flecks, Pigmentary retinopathy, Yellow/white lesions of the retina	ORPHA:100996
Jeune Syndrome	Abnormality of retinal pigmentation	ORPHA:474
Autoinflammation With Episodic Fever And Lymphadenopathy	Hepatomegaly, Lymphadenopathy, Recurrent tonsillitis, Splenomegaly, Microcytic anemia	OMIM:618852
Fundus Albipunctatus	Fundus albipunctatus, Retinal flecks, Nyctalopia	OMIM:136880
Coproporphyria, Hereditary	Elevated urinary delta-aminolevulinic acid, Jaundice, Hepatomegaly, Increased urinary porphobilin...	OMIM:121300
Fetal Cytomegalovirus Syndrome	Optic atrophy, Jaundice, Anemia, Hepatomegaly, Elevated circulating hepatic transaminase concentr...	ORPHA:294
Sjogren-Larsson Syndrome	Retinal thinning, Macular dots, Color vision defect, Photophobia, Macular degeneration, Spasticit...	OMIM:270200
Huntington Disease-Like 1	Cerebral cortical atrophy, Gliosis, Cerebellar atrophy, Seizure	ORPHA:157941
H Syndrome	Corneal arcus, Abnormality of the kidney, Enlarged kidney, Hypertriglyceridemia, Lymphadenopathy,...	ORPHA:168569
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type	Retinopathy, Retinal pigment epithelial mottling	OMIM:219900
Lymphoproliferative Syndrome, X-Linked, 2	Aplastic anemia, Hypertriglyceridemia, Hepatomegaly, Hemophagocytosis, Pancytopenia, Splenomegaly...	OMIM:300635
Primary Intestinal Lymphangiectasia	Peritoneal effusion, Intestinal lymphangiectasia, Anemia, Decreased proportion of CD3-positive T ...	ORPHA:90362
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive	Cirrhosis, Elevated circulating hepatic transaminase concentration, Decreased circulating cerulop...	OMIM:242150
Combined Oxidative Phosphorylation Deficiency 10	Optic atrophy, Hyperalaninemia, Ascites, Hypertrophic cardiomyopathy, Pericardial effusion, Hyper...	OMIM:614702
Retinal Cone Dystrophy 3A	Photophobia, Cone dystrophy, High myopia, Dyschromatopsia, Reduced visual acuity, Nyctalopia	OMIM:610024
Leber Optic Atrophy	Optic atrophy, Central retinal vessel vascular tortuosity, Visual loss, Optic neuropathy, Dystoni...	OMIM:535000
Pseudohypoparathyroidism Type 1C	Calcinosis, Low urinary cyclic AMP response to PTH administration, Hypocalcemic seizures, Hypocal...	ORPHA:79444
Mohr-Tranebjaerg Syndrome	Constriction of peripheral visual field, Photophobia, Spasticity, Tremor, Cerebral visual impairm...	OMIM:304700
Combined Oxidative Phosphorylation Deficiency 37	Optic atrophy, 3-Methylglutaconic aciduria, Decreased liver function, Chorioretinal hyperpigmenta...	OMIM:618329
Abetalipoproteinemia	Decreased HDL cholesterol concentration, Elevated circulating hepatic transaminase concentration,...	ORPHA:14
Sialidosis Type 2	Hepatomegaly, Corneal opacity, Ascites, Splenomegaly, Abnormal macular morphology, Nephropathy	ORPHA:87876
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome	Abnormality of retinal pigmentation	ORPHA:3085
Exudative Vitreoretinopathy 5	Retinal exudate, Tractional retinal detachment, Reduced visual acuity, Exudative vitreoretinopath...	OMIM:613310
Chromosome 16Q12 Duplication Syndrome	Retinal pigment epithelial mottling, Central thinning of the outer nuclear layer of the retina, T...	OMIM:619649
Desmoid Tumor	Abnormality of retinal pigmentation	ORPHA:873
Pontocerebellar Hypoplasia, Type 2A	Optic atrophy, Gliosis, Cerebral cortical atrophy, Seizure	OMIM:277470
Infantile Krabbe Disease	Optic atrophy, Delayed brainstem auditory evoked response conduction time, Decreased nerve conduc...	ORPHA:206436
Mitochondrial Complex Iv Deficiency, Nuclear Type 15	Pigmentary retinopathy	OMIM:619059
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease	Hypertriglyceridemia, Anemia, Lymphadenopathy, Hemophagocytosis, Thrombocytopenia, Hepatosplenome...	OMIM:613101
Fish-Eye Disease	Decreased HDL cholesterol concentration, Hepatomegaly, Lymphadenopathy, Corneal opacity, Splenome...	ORPHA:79292
Congenital Enterovirus Infection	Myocarditis, Anemia, Abnormal macrophage morphology, Cholestasis, Leukocytosis, Cardiomyopathy, H...	ORPHA:292
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form	Renal tubular epithelial necrosis, Myoglobinuria, Red-brown urine, Cardiomyopathy, Hyperlipidemia...	ORPHA:228308
Friedreich Ataxia	Limb ataxia, Babinski sign, Optic atrophy, Decreased sensory nerve conduction velocity, Impaired ...	OMIM:229300
Ane Syndrome	Hypogonadotropic hypogonadism, Motor neuron atrophy	ORPHA:157954
X-Linked Sideroblastic Anemia	Elevated circulating hepatic transaminase concentration, Abnormality of iron homeostasis, Anemia,...	ORPHA:75563
Uruguay Faciocardiomusculoskeletal Syndrome	Left atrial enlargement, Elevated circulating hepatic transaminase concentration, Ventricular hyp...	OMIM:300280
Refractory Anemia With Excess Blasts	Abnormal circulating albumin concentration, Acute myeloid leukemia, Abnormal circulating protein ...	ORPHA:86839
Wilson Disease	Sunflower cataract, Portal fibrosis, Ascites, Acute hepatic failure, Splenomegaly, High noncerulo...	OMIM:277900
Night Blindness, Congenital Stationary, Type 1F	Congenital stationary night blindness, High myopia, Reduced visual acuity, Retinal perforation, N...	OMIM:615058
Gyrate Atrophy Of Choroid And Retina	Chorioretinal atrophy, Macular thickening, Visual impairment, Foveoschisis, Myopia, Blindness, Ny...	OMIM:258870
3-Methylglutaconic Aciduria Type 4	Decreased liver function, 3-Methylglutaconic aciduria, Cardiomyopathy, Iris hypopigmentation, Thr...	ORPHA:67048
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease	Hypertriglyceridemia, Increased circulating ferritin concentration, Anemia, Acute myeloid leukemi...	ORPHA:158057
Mitochondrial Complex Iv Deficiency, Nuclear Type 2	Cerebral atrophy, Brain atrophy, Gliosis, Neuronal loss in central nervous system, Cerebellar atr...	OMIM:604377
Trichohepatoenteric Syndrome 1	Cholestasis, Pulmonic stenosis, Renal cortical microcysts, Splenomegaly, Jaundice, Hypospadias, I...	OMIM:222470
Coats Disease	Abnormal anterior chamber morphology, Retinal detachment, Aplasia/Hypoplasia of the iris, Abnorma...	ORPHA:190
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability	Optic atrophy, Hematuria, Retinal detachment, Corneal opacity, Posterior embryotoxon, Chorioretin...	ORPHA:1473
Autosomal Recessive Spastic Paraplegia Type 11	Orthostatic hypotension, Inability to walk, Abnormality of extrapyramidal motor function, Periphe...	ORPHA:2822
Cholesteryl Ester Storage Disease	Hypertriglyceridemia, Decreased HDL cholesterol concentration, Leukopenia, Splenomegaly, Acute he...	OMIM:278000
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 8	Global brain atrophy, Amyotrophic lateral sclerosis	OMIM:619132
Retinitis Pigmentosa 74	Rod-cone dystrophy, Pigmentary retinopathy, Optic disc pallor	OMIM:616562
Bardet-Biedl Syndrome 4	Retinal degeneration, Rod-cone dystrophy, Hypogonadism, Nyctalopia	OMIM:615982
Peroxisome Biogenesis Disorder 9B	Constriction of peripheral visual field, Ataxia, Reduced visual acuity, Rod-cone dystrophy, Nycta...	OMIM:614879
Mucopolysaccharidosis, Type Iiib	Hepatomegaly, Asymmetric septal hypertrophy, Splenomegaly, Cardiomegaly, Heparan sulfate excretio...	OMIM:252920
Night Blindness, Congenital Stationary, Type 1B	Congenital stationary night blindness, Bone spicule pigmentation of the retina	OMIM:257270
Reni Syndrome	Hypertriglyceridemia, Focal segmental glomerulosclerosis, Podocyte foot process effacement, Nephr...	OMIM:617575
Beckwith-Wiedemann Syndrome	Enlarged kidney, Hepatomegaly, Cardiomegaly, Renal cortical cysts, Vesicoureteral reflux, Cardiom...	OMIM:130650
Mitochondrial Complex Ii Deficiency, Nuclear Type 1	Optic atrophy, Pigmentary retinopathy	OMIM:252011
Combined Oxidative Phosphorylation Deficiency 33	Astigmatism, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Cardiomyopath...	OMIM:617713
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly	Hepatomegaly, Nephronophthisis, Cholestasis, Hepatic fibrosis, Splenomegaly, Chronic kidney disea...	OMIM:615630
S-Adenosylhomocysteine Hydrolase Deficiency	Elevated circulating hepatic transaminase concentration, Abnormal circulating homocysteine concen...	ORPHA:88618
Charcot-Marie-Tooth Disease Type 4C	Optic atrophy, Difficulty walking, Inability to walk, Impaired pain sensation, Tongue fasciculati...	ORPHA:99949
Usher Syndrome, Type Iid	Rod-cone dystrophy, Nyctalopia	OMIM:611383
Poliomyelitis	Hyperkinetic movements, Myelitis, Inability to walk, Fasciculations, Paraparesis, Abnormal motor ...	ORPHA:2912
Usher Syndrome Type 2	Visual loss, Scotoma, Subcortical cerebral atrophy, Cerebral cortical atrophy, Hemianopia, Ataxia...	ORPHA:231178
Hypokalemic Periodic Paralysis	Paralysis, Periodic hypokalemic paresis, Respiratory paralysis	ORPHA:681
Neurodegeneration, Childhood-Onset, With Progressive Microcephaly	Cerebral atrophy, Gliosis, Seizure, Febrile seizure (within the age range of 3 months to 6 years)...	OMIM:619847
Mucolipidosis Type Iv	Retinopathy, Abnormality of retinal pigmentation	ORPHA:578
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome	Seizure, Gliosis, Bilateral tonic-clonic seizure	ORPHA:457240
Bardet-Biedl Syndrome 9	Attenuation of retinal blood vessels, Retinal degeneration, Bone spicule pigmentation of the reti...	OMIM:615986
X-Linked Immunoneurologic Disorder	Hemiplegia/hemiparesis, Hypertonia, Nyctalopia	ORPHA:2571
Leber Congenital Amaurosis 15	Constriction of peripheral visual field, Color vision defect, Photophobia, Hypermetropia, Hemeral...	OMIM:613843
Glycogen Storage Disease Of Heart, Lethal Congenital	Enlarged kidney, Cardiomegaly, Cardiomyopathy, Ascites, Hypertrophic cardiomyopathy, Pericardial ...	OMIM:261740
Nodular Lymphocyte Predominant Hodgkin Lymphoma	Splenomegaly, Hepatomegaly, Lymphadenopathy	ORPHA:86893
Tangier Disease	Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hepatomegaly, Decreased circulatin...	OMIM:205400
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11	Retinal detachment, Optic nerve hypoplasia, Myopia, Blindness	OMIM:615181
Anemia, Hypochromic Microcytic, With Iron Overload 2	Hepatomegaly, Anemia, Hypochromia, Poikilocytosis, Sideroblastic anemia, Elevated hepatic iron co...	OMIM:615234
Early-Onset Progressive Encephalopathy-Hearing Loss-Pons Hypoplasia-Brain Atrophy Syndrome	Optic atrophy, Spasticity, Vocal cord paralysis, Cerebral visual impairment, Cerebral cortical at...	ORPHA:500144
De Sanctis-Cacchione Syndrome	Optic atrophy, Cerebral atrophy, Global brain atrophy, Axonal degeneration, Bilateral tonic-cloni...	OMIM:278800
Severe X-Linked Intellectual Disability, Gustavson Type	Optic atrophy, Hypertonia, Brain atrophy, Spasticity, Myoclonus, Blindness	ORPHA:3078
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome	Renal malrotation, Enlarged kidney, Astigmatism, Abnormal right ventricle morphology, Chronic neu...	ORPHA:500095
Glycogen Storage Disease Ixa1	Hypertriglyceridemia, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Hype...	OMIM:306000
Fanconi Renotubular Syndrome 5	Hypophosphatemic rickets, Tubulointerstitial fibrosis, Glycosuria, Proteinuria, Hypophosphatemia,...	OMIM:618913
Glycogen Storage Disease Ixb	Hyperuricemia, Hepatomegaly, Splenomegaly, Increased hepatic glycogen content	OMIM:261750
Neurodevelopmental Disorder With Seizures And Brain Abnormalities	Retinal pigment epithelial mottling	OMIM:619517
Beta-Thalassemia	Hepatomegaly, Anemia, Abnormality of iron homeostasis, Cholelithiasis, Hypertrophic cardiomyopath...	ORPHA:848
Cone-Rod Dystrophy 6	Bone spicule pigmentation of the retina, Chorioretinal atrophy, Cone/cone-rod dystrophy, Attenuat...	OMIM:601777
Molybdenum Cofactor Deficiency, Complementation Group B	Cerebral atrophy, Gliosis, Seizure, Bilateral tonic-clonic seizure, Myoclonic spasms, Diffuse cer...	OMIM:252160
Spinocerebellar Ataxia, Autosomal Recessive 21	Hepatomegaly, Hepatic bridging fibrosis, Splenomegaly, Hepatic fibrosis, Hepatic failure	OMIM:616719
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib	Hypertriglyceridemia, Hepatocellular adenoma, Hepatomegaly, Pancreatitis, Anemia, Enlarged kidney...	ORPHA:79259
Toxin-Mediated Infectious Botulism	Paralysis, Diaphragmatic paralysis, Cerebral palsy, Diplopia	ORPHA:230800
Autosomal Recessive Spastic Paraplegia Type 25	Spastic paraplegia, Abnormality of peripheral nerve conduction, Paraparesis	ORPHA:101005
Pseudohypoparathyroidism Type 1A	Calcinosis, Low urinary cyclic AMP response to PTH administration, Hypocalcemic seizures, Hypocal...	ORPHA:79443
Lissencephaly, X-Linked, 2	Seizure, Gliosis	OMIM:300215
Early-Onset Progressive Leukoencephalopathy-Central Nervous System Calcification-Deafness-Visual Impairment Syndrome	Seizure, Gliosis, Diffuse cerebral atrophy	ORPHA:3240
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome	Thrombocytopenia, Anemia, Splenomegaly, Abnormal hemoglobin	ORPHA:231393
Nephrotic Syndrome, Type 1	Glomerular sclerosis, Hypoproteinemia, Hyperlipidemia, Congenital nephrotic syndrome, Renal tubul...	OMIM:256300
Mucolipidosis Ii Alpha/Beta	Enlarged kidney, Hepatomegaly, Increased serum beta-hexosaminidase, Megalocornea, Hypertrophic ca...	OMIM:252500
Pseudo-Torch Syndrome 3	Acute kidney injury, Anemia, Lymphadenitis, Leukocytosis, Proteinuria, Cardiomegaly, Increased ci...	OMIM:618886
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome	Hypochromic microcytic anemia, HbS hemoglobin, Splenic infarction, Persistence of hemoglobin F, R...	ORPHA:251380
Sclerosing Cholangitis, Neonatal	Cirrhosis, Jaundice, Portal fibrosis, Hepatomegaly, Sclerosing cholangitis, Acholic stools, Vesic...	OMIM:617394
Lymphoid Interstitial Pneumonia	Enlarged kidney, Hepatomegaly, Mediastinal lymphadenopathy, Keratoconjunctivitis sicca	ORPHA:79128
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy	Intestinal lymphangiectasia, Anemia, Iron deficiency anemia, Hepatomegaly, Hypoproteinemia, Ascit...	OMIM:226300
Nephronophthisis 15	Retinal degeneration, Blindness	OMIM:614845
Optic Atrophy 14	Constriction of peripheral visual field, Reduced visual acuity, Optic disc pallor	OMIM:620550
Immunodeficiency 16	Coombs-positive hemolytic anemia, Splenomegaly, Pancytopenia	OMIM:615593
Dentatorubral Pallidoluysian Atrophy	Limb ataxia, Impaired proprioception, Oromandibular dystonia, Progressive cerebellar ataxia, Dyss...	ORPHA:101
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency	Tremor, Ataxia, Blindness, Retinal dystrophy	ORPHA:713
Hypophosphatemic Rickets, X-Linked Dominant	Hypophosphatemic rickets, Renal phosphate wasting, Hepatosplenomegaly, Hypophosphatemia, Abnormal...	OMIM:307800
Glycosylphosphatidylinositol Biosynthesis Defect 1	Portal vein thrombosis, Hepatomegaly, Splenomegaly, Portal hypertension	OMIM:610293
Retinitis Pigmentosa, Deafness, Mental Retardation, And Hypogonadism	Rod-cone dystrophy, Pigmentary retinopathy	OMIM:268020
Autosomal Recessive Chorioretinopathy-Microcephaly Syndrome	Optic atrophy, Abnormality of retinal pigmentation	ORPHA:2518
Arthrogryposis, Distal, Type 5	Abnormality of retinal pigmentation, Retinal fold	OMIM:108145
Trappc11-Related Limb-Girdle Muscular Dystrophy R18	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Cataract, Abnormal circula...	ORPHA:369840
Nephrotic Syndrome, Type 8	Thin glomerular basement membrane, Nephrotic syndrome, Proteinuria, Chronic kidney disease, Hypoa...	OMIM:615244
Portal Hypertension, Noncirrhotic, 1	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Splenomegaly, Portal hyper...	OMIM:617068
Madras Motor Neuron Disease	Optic atrophy, Babinski sign, Limb fasciculations, Facial palsy, Reduced visual acuity, Visual im...	ORPHA:137867
Stickler Syndrome Type 2	Abnormal vitreous humor morphology, Retinal detachment, Corneal opacity, Retinopathy, Cataract	ORPHA:90654
Retinitis Pigmentosa And Erythrocytic Microcytosis	Bone spicule pigmentation of the retina, Photoreceptor layer loss on macular OCT, Retinal atrophy...	OMIM:616959
Alpha-N-Acetylgalactosaminidase Deficiency	Tetraplegia, Spasticity, Clonus, Cerebral cortical atrophy, Blindness	ORPHA:3137
Griscelli Syndrome Type 2	Jaundice, Hepatomegaly, Lymphadenopathy, Hemophagocytosis, Pancytopenia, Hyperlipidemia, Iris hyp...	ORPHA:79477
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome	Steppage gait, Male hypogonadism, Abnormal peripheral nerve morphology by anatomical site, Infert...	ORPHA:168563
Glioblastoma	Paralysis, Visual loss	ORPHA:360
Myopia, High, With Cataract And Vitreoretinal Degeneration	Retinal detachment, Peripheral vitreoretinal degeneration, Vitreous floaters, Lattice retinal deg...	OMIM:614292
Spinocerebellar Ataxia, Autosomal Recessive 33	Broad-based gait, Truncal ataxia, Frequent falls, Intention tremor, Gait ataxia, Head titubation,...	OMIM:620208
Non-Functioning Paraganglioma	Tremor, Vocal cord paralysis, Paraganglioma of head and neck, Cranial nerve compression, Hyperten...	ORPHA:94080
Galactokinase Deficiency	Hepatomegaly, Increased level of galactitol in plasma, Hypergalactosemia, Increased level of gala...	ORPHA:79237
Vitamin B12-Unresponsive Methylmalonic Acidemia	Optic atrophy, Paraparesis, Ataxia, Choreoathetosis, Tetraparesis	ORPHA:27
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema	Jaundice, Hepatomegaly, Cholelithiasis, Increased mean corpuscular hemoglobin concentration, Conj...	OMIM:194380
Apolipoprotein C-Ii Deficiency	Hypertriglyceridemia, Hepatomegaly, Pancreatitis, Increased circulating chylomicron concentration...	OMIM:207750
Symptomatic Form Of Hfe-Related Hemochromatosis	Cirrhosis, Hepatomegaly, Abnormality of iron homeostasis, Hepatocellular carcinoma, Cardiomyopath...	ORPHA:465508
Glut1 Deficiency Syndrome 2	Reduced haptoglobin level, Splenomegaly, Hemolytic anemia, Reticulocytosis	OMIM:612126
Hereditary Hypophosphatemic Rickets With Hypercalciuria	Hypophosphatemic rickets, Increased circulating beta-C-terminal telopeptide concentration, Hyperc...	ORPHA:157215
Beckwith-Wiedemann Syndrome	Enlarged kidney, Hepatomegaly, Ureteral duplication, Abnormal pancreas morphology, Congenital meg...	ORPHA:116
Immunoneurologic Disorder, X-Linked	Spastic paraplegia, Nyctalopia	OMIM:300076
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 2	Facial palsy, Pigmentary retinopathy	OMIM:613156
Hypocalciuric Hypercalcemia, Familial, Type Iii	Hypermagnesemia, Pancreatitis, Hypocalciuria, Parathormone-independent increased renal tubular ca...	OMIM:600740
Galloway-Mowat Syndrome 6	Nephrotic syndrome, Hypoalbuminemia, Proteinuria, Focal segmental glomerulosclerosis	OMIM:618347
Congenital Disorder Of Glycosylation, Type Ia	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Proximal tubulopathy, Card...	OMIM:212065
Intellectual Developmental Disorder, X-Linked 12	Seizure, Gliosis	OMIM:300957
Ras-Associated Autoimmune Leukoproliferative Disorder	Hepatomegaly, Pancytopenia, Lymphocytosis, Splenomegaly, Hemolytic anemia, Autoimmune thrombocyto...	OMIM:614470
Lethal Hemolytic Anemia-Genital Anomalies Syndrome	Renal hypoplasia/aplasia, Anemia, Hypospadias, Hypoplasia of penis, Ascites, Abnormality of the u...	ORPHA:1046
Adams-Oliver Syndrome 6	Truncus arteriosus, Portal hypertension, Renal hypoplasia, Splenomegaly, Hepatic fibrosis, Ventri...	OMIM:616589
Hemolytic Anemia Due To Glutathione Reductase Deficiency	Cataract, Hyperbilirubinemia, Fava bean-induced hemolytic anemia, Reduced erythrocyte glutathione...	OMIM:618660
Pyruvate Kinase Deficiency Of Red Cells	Chronic hemolytic anemia, Jaundice, Reduced red cell pyruvate kinase level, Cholelithiasis, Hepat...	OMIM:266200
Familial Isolated Hyperparathyroidism	Hypercalciuria, Hyperphosphaturia, Nephrocalcinosis, Hypercalcemia, Hypophosphatemia, Renal insuf...	ORPHA:99879
Dent Disease	Tubulointerstitial fibrosis, Proximal tubulopathy, Nephrocalcinosis, Renal hypophosphatemia, Rena...	ORPHA:1652
Mast Cell Sarcoma	Hepatomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Mastocytosis, Splenomegaly	ORPHA:66661
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly	Chronic tubulointerstitial nephritis, Hepatomegaly, Elevated circulating creatinine concentration...	OMIM:614376
Vitreoretinopathy, Neovascular Inflammatory	Posterior retinal neovascularization, Peripheral retinal neovascularization, Retinal detachment, ...	OMIM:193235
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome	Enlarged kidney, Enlarged polycystic ovaries	ORPHA:90301
Hypocalcemic Vitamin D-Dependent Rickets	Hepatomegaly, Hypocalcemic seizures, Generalized aminoaciduria, Hypocalcemia, Cardiomyopathy, Leu...	ORPHA:289157
Lymphoproliferative Syndrome 1	Autoimmune hemolytic anemia, Hepatomegaly, Anemia, Hemophagocytosis, Lymphadenopathy, Pancytopeni...	OMIM:613011
Night Blindness, Congenital Stationary, Type 1H	Mild myopia, Nyctalopia, Photophobia, Hypermetropia	OMIM:617024
Congenital Muscular Dystrophy With Cerebellar Involvement	Optic atrophy, Retinal detachment, Optic nerve hypoplasia, Clonus, Abnormal pyramidal sign, Myopi...	ORPHA:370959
Papillorenal Syndrome	Stage 5 chronic kidney disease, Renal malrotation, Elevated circulating creatinine concentration,...	OMIM:120330
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis	Paralysis, Abnormal autonomic nervous system physiology	ORPHA:83601
Exercise-Induced Malignant Hyperthermia	Decreased liver function, Acute kidney injury, Hyperkalemia, Hypocalcemia, Elevated circulating c...	ORPHA:466650
Immunodeficiency 42	Splenomegaly, Hepatomegaly, Hypoplasia of the thymus	OMIM:616622
Homocystinuria-Megaloblastic Anemia, Cblg Complementation Type	Cerebral atrophy, Spasticity, Gait disturbance, Poor coordination, Blindness	OMIM:250940
Megalocornea	Corneal arcus, Iris transillumination defect, Iridodonesis, Astigmatism, Mosaic corneal dystrophy...	OMIM:309300
Combined Oxidative Phosphorylation Deficiency 55	Stage 3 chronic kidney disease, Hypophosphatemic rickets, Anemia, Proximal tubulopathy, Organic a...	OMIM:619743
Cardiomyopathy, Familial Hypertrophic, 27	Ventricular septal hypertrophy, Concentric hypertrophic cardiomyopathy, Pterygium, Hypertrophic c...	OMIM:618052
Peroxisome Biogenesis Disorder 2A (Zellweger)	Optic nerve dysplasia, Jaundice, Hepatomegaly, Intrahepatic biliary dysgenesis, Polycystic kidney...	OMIM:214110
Osteopetrosis, Autosomal Recessive 8	Optic atrophy, Hepatomegaly, Anemia, Thrombocytopenia, Splenomegaly	OMIM:615085
Fanconi Renotubular Syndrome 1	Low-molecular-weight proteinuria, Hypokalemia, Renal tubular dysfunction, Glycosuria, Hyperphosph...	OMIM:134600
Cholestasis, Progressive Familial Intrahepatic, 9	Jaundice, Intrahepatic cholestasis, Hepatomegaly, Fibro-obliterative bile-duct lesion, Portal hyp...	OMIM:619849
Gm1 Gangliosidosis	Optic atrophy, Generalized dystonia, Abnormality of extrapyramidal motor function, Decerebrate ri...	ORPHA:354
Maternal Uniparental Disomy Of Chromosome 4	Spastic gait, Chaddock reflex, Optic atrophy, Impaired proprioception, Pigmentary retinopathy, Vi...	ORPHA:96180
Coloboma Of Optic Nerve	Retinal detachment, Optic disc coloboma	OMIM:120430
Wolfram Syndrome, Mitochondrial Form	Optic atrophy, Abnormal autonomic nervous system physiology, Blindness	OMIM:598500
Pelizaeus-Merzbacher Disease, Connatal Form	Gliosis, Abnormal myelination, Cerebral hypomyelination	ORPHA:280210
Achromatopsia 2	Retinal thinning, Achromatopsia, Photophobia, Hemeralopia, Peripapillary atrophy, Hypoplasia of t...	OMIM:216900
Refsum Disease	Abnormality of vision, Retinopathy, Hemiplegia/hemiparesis, Abnormality of retinal pigmentation, ...	ORPHA:773
Joubert Syndrome 35	Oculomotor apraxia, Ataxia, Rod-cone dystrophy, Progressive visual loss, Nyctalopia	OMIM:618161
Ornithine Transcarbamylase Deficiency	Aminoaciduria, Splenomegaly, Hyperammonemia, Hepatic failure	ORPHA:664
Amyotrophic Lateral Sclerosis 26 With Or Without Frontotemporal Dementia	Amyotrophic lateral sclerosis	OMIM:619133
Cerebrotendinous Xanthomatosis	Optic atrophy, Global brain atrophy, Axonal degeneration, Gliosis, Seizure, Cerebellar atrophy, O...	ORPHA:909
Cholestasis, Progressive Familial Intrahepatic, 2	Cirrhosis, Intrahepatic cholestasis, Hepatomegaly, Hepatocellular carcinoma, Intermittent jaundic...	OMIM:601847
Rift Valley Fever	Scotoma, Photophobia, Decerebrate rigidity, Retinal hemorrhage, Paraparesis, Retinal vasculitis, ...	ORPHA:319251
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type	Hepatomegaly, Abnormality of the urinary system, Splenomegaly	ORPHA:2204
Ichthyotic Keratoderma, Spasticity, Hypomyelination, And Dysmorphic Facial Features	Constriction of peripheral visual field, Babinski sign, Photophobia, Spasticity, Tremor, Optic di...	OMIM:618527
Ceroid Lipofuscinosis, Neuronal, 8, Northern Epilepsy Variant	Cerebral atrophy, Cerebellar atrophy, Bilateral tonic-clonic seizure, Increased neuronal autofluo...	OMIM:610003
Bile Acid Synthesis Defect, Congenital, 1	Cirrhosis, Jaundice, Intrahepatic cholestasis, Giant cell hepatitis, Hepatomegaly, Elevated circu...	OMIM:607765
Bile Acid Synthesis Defect, Congenital, 3	Cirrhosis, Jaundice, Intrahepatic cholestasis, Hepatomegaly, Acholic stools, Hyperbilirubinemia, ...	OMIM:613812
Diarrhea 7, Protein-Losing Enteropathy Type	Hypoalbuminemia, Hypercholesterolemia, Hyperlipidemia	OMIM:615863
Poikiloderma, Hereditary Fibrosing, With Tendon Contractures, Myopathy, And Pulmonary Fibrosis	Cataract, Hepatomegaly, Elevated circulating creatine kinase concentration	OMIM:615704
Congenital Myopathy 8	Cardiomegaly	OMIM:618654
Combined Oxidative Phosphorylation Deficiency 8	Cardiomegaly, Hypertrophic cardiomyopathy	OMIM:614096
Peroxisome Biogenesis Disorder 11B	Cataract, Hepatosplenomegaly	OMIM:614885
Alg9-Cdg	Atrial septal defect, Enlarged kidney, Hepatomegaly, Periportal fibrosis, Abnormal left ventricul...	ORPHA:79328
Combined Oxidative Phosphorylation Deficiency 58	Optic atrophy, Epilepsia partialis continua, Gliosis, Cerebellar atrophy, Bilateral tonic-clonic ...	OMIM:620451
Gaucher Disease, Type Iiic	Hepatomegaly, Pancytopenia, Mitral valve calcification, Mitral stenosis, Splenomegaly, Aortic val...	OMIM:231005
Osteopetrosis, Autosomal Recessive 2	Optic atrophy, Facial paralysis, Blindness, Cranial nerve compression	OMIM:259710
Anemia, Congenital Dyserythropoietic, Type Ib	Jaundice, Anemia, Hepatomegaly, Anemia of inadequate production, Reticulocytosis, Poikilocytosis,...	OMIM:615631
Vitamin D-Dependent Rickets, Type 3	Hypocalcemia, Hypophosphatemia	OMIM:619073
Arachnoid Cyst	Distal sensory impairment, Inability to walk, Paresthesia, Diplopia, Facial palsy, Gait disturban...	ORPHA:2356
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia	Ataxia, Blindness, Pigmentary retinopathy, Myoclonus	OMIM:560000
Charcot-Marie-Tooth Disease Type 4B2	Optic atrophy, Decreased distal sensory nerve action potential, Tip-toe gait, Difficulty walking,...	ORPHA:99956
Metachromatic Leukodystrophy, Late Infantile Form	Optic atrophy, Babinski sign, Tip-toe gait, Decreased nerve conduction velocity, Decerebrate rigi...	ORPHA:309256
Primary Biliary Cholangitis	Abnormal circulating lipid concentration, Cirrhosis, Jaundice, Hepatomegaly, Hypercholesterolemia...	ORPHA:186
Congenital Disorder Of Glycosylation, Type Iil	Optic atrophy, Cirrhosis, Hepatomegaly, Elevated circulating hepatic transaminase concentration, ...	OMIM:614576
Pseudohyperkalemia, Familial, 2, Due To Red Cell Leak	Periodic paralysis, Hand tremor	OMIM:609153
Brown-Vialetto-Van Laere Syndrome 1	Gait imbalance, Tongue fasciculations, Truncal ataxia, Vocal cord paralysis, Knee clonus, Facial ...	OMIM:211530
Immunodeficiency 48	Hepatomegaly, Impaired lymphocyte transformation with phytohemagglutinin, Splenomegaly, Abnormal ...	OMIM:269840
Primary Sclerosing Cholangitis	Elevated circulating hepatic transaminase concentration, Cholestasis, Ascites, Acute hepatic fail...	ORPHA:171
Pineoblastoma	Retinoblastoma, Amaurosis fugax, Papilledema, Reduced visual acuity, Paralysis, Progressive visua...	ORPHA:251909
Dent Disease 1	Low-molecular-weight proteinuria, Renal phosphate wasting, Hypercalciuria, Proximal tubulopathy, ...	OMIM:300009
Gm1-Gangliosidosis, Type Iii	Opacification of the corneal stroma, Splenomegaly, Hepatomegaly, Cherry red spot of the macula	OMIM:230650
Analbuminemia	Hypoalbuminemia, Increased LDL cholesterol concentration, Elevated circulating transferrin concen...	OMIM:616000
Colchicine Poisoning	Myocarditis, Abnormal blood ion concentration, Hypokalemia, Hypocalcemia, Leukocytosis, Hyponatre...	ORPHA:31824
Juvenile Nephropathic Cystinosis	Proximal tubulopathy, Corneal crystals, Hypophosphatemia, Elevated circulating creatinine concent...	ORPHA:411634
Caroli Disease	Cirrhosis, Jaundice, Intrahepatic cholestasis, Cholangitis, Conjunctival icterus, Cholelithiasis,...	ORPHA:53035
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2	Cerebral atrophy, Gliosis, Seizure, Infantile spasms, Myoclonus, Neurodegeneration	OMIM:618321
Spinocerebellar Ataxia With Axonal Neuropathy Type 1	Hypoalbuminemia, Hypercholesterolemia	ORPHA:94124
Infantile Nephropathic Cystinosis	Low-molecular-weight proteinuria, Hypokalemia, Glycosuria, Hyperphosphaturia, Corneal crystals, R...	ORPHA:411629
Immunodeficiency 109 With Lymphoproliferation	Hypertriglyceridemia, Pancytopenia, Splenomegaly, Generalized lymphadenopathy, Absent circulating...	OMIM:620282
Hypophosphatemic Rickets, X-Linked Recessive	Low-molecular-weight proteinuria, Hypophosphatemic rickets, Renal phosphate wasting, Hypercalciur...	OMIM:300554
Spinal muscular atrophy, type I, with congenital bone fractures	Degeneration of anterior horn cells	OMIM:271225
Juvenile Sialidosis Type 2	Optic atrophy, Abnormality of the kidney, Hepatomegaly, Corneal opacity, Visceromegaly, Abnormal ...	ORPHA:93399
Night Blindness, Congenital Stationary, Type1I	Tritanomaly, Nyctalopia	OMIM:618555
Mevalonic Aciduria	Cataract, Splenomegaly	ORPHA:29
Sea-Blue Histiocytosis	Sea-blue histiocytosis, Mediastinal lymphadenopathy, Hepatomegaly, Retinopathy, Thrombocytopenia,...	ORPHA:158029
Congenitally Uncorrected Transposition Of The Great Arteries	Abnormal ventriculoarterial connection, Hepatomegaly, Ventricular septal defect, Anomalous pulmon...	ORPHA:860
Joubert Syndrome With Oculorenal Defect	Aganglionic megacolon, Retinal dystrophy, Ataxia, Chorioretinal coloboma, Visual impairment, Blin...	ORPHA:2318
Severe Oculo-Renal-Cerebellar Syndrome	Optic atrophy, Abnormality of retinal pigmentation, Hypopigmented skin patches, Abnormal retinal ...	ORPHA:2715
Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction	Optic atrophy, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Optic disc pallor	OMIM:268315
Congenital Sialidosis Type 2	Optic atrophy, Abnormality of the kidney, Hepatomegaly, Yellow/white lesions of the retina, Corne...	ORPHA:93400
Anemia, Congenital Dyserythropoietic, Type Iv	Anemia of inadequate production, Reticulocytosis, Unconjugated hyperbilirubinemia, Circulating nu...	OMIM:613673
Leber Congenital Amaurosis 3	Constriction of peripheral visual field, Visual loss, Nyctalopia	OMIM:604232
Joubert Syndrome 3	Retinal dystrophy, Pigmentary retinopathy	OMIM:608629
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1	Hypoalbuminemia, Hypercholesterolemia	OMIM:607250
Vici Syndrome	Optic atrophy, Abnormal macular morphology, Abnormality of retinal pigmentation, Hypopigmentation...	ORPHA:1493
Cataract 50 With Or Without Glaucoma	Retinal detachment, Persistent pupillary membrane, Cataract	OMIM:620253
Congenital Disorder Of Glycosylation, Type It	Hepatomegaly, Intrahepatic cholestasis, Elevated circulating hepatic transaminase concentration, ...	OMIM:614921
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 1	Renal phosphate wasting, Hypercalciuria, Nephrolithiasis, Hyperphosphaturia, Hypophosphatemia	OMIM:612286
Avian Influenza	Acute kidney injury, Elevated circulating hepatic transaminase concentration, Elevated circulatin...	ORPHA:454836
Pierson Syndrome	Posterior lenticonus, Hypoplasia of the ciliary body, Retinal detachment, Hypoproteinemia, Remnan...	OMIM:609049
Bile Acid Synthesis Defect, Congenital, 2	Jaundice, Intrahepatic cholestasis, Elevated circulating hepatic transaminase concentration, Hepa...	OMIM:235555
Coach Syndrome 1	Cirrhosis, Hepatomegaly, Nephronophthisis, Unilateral renal agenesis, Elevated circulating hepati...	OMIM:216360
Adrenomyeloneuropathy	Cerebral dysmyelination, Axonal degeneration, Atrophy of the spinal cord, Atrophy/Degeneration in...	ORPHA:139399
Babesiosis	Jaundice, Hepatomegaly, Leukopenia, Splenomegaly, Thrombocytopenia, Renal insufficiency, Hemolyti...	ORPHA:108
Anemia, Congenital Dyserythropoietic, Type Ii	Jaundice, Cholelithiasis, Anemia of inadequate production, Reticulocytosis, Splenomegaly	OMIM:224100
Autosomal Recessive Spastic Paraplegia Type 55	Optic atrophy, Babinski sign, Decreased sensory nerve conduction velocity, Distal sensory impairm...	ORPHA:320375
Cone-Rod Dystrophy 18	Foveal hyperpigmentation, Central scotoma, High myopia, Cone/cone-rod dystrophy, Foveal atrophy, ...	OMIM:615374
Fanconi Renotubular Syndrome 2	Decreased glomerular filtration rate, Renal phosphate wasting, Generalized aminoaciduria, Hyperca...	OMIM:613388
Mevalonic Aciduria	Fluctuating splenomegaly, Anemia, Lymphadenopathy, Elevated circulating hepatic transaminase conc...	OMIM:610377
Exudative Vitreoretinopathy 6	Posterior vitreous detachment, Retinal exudate, Patchy atrophy of the retinal pigment epithelium,...	OMIM:616468
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency	Normocytic anemia, Jaundice, Normochromic anemia, Cholelithiasis, Hyperbilirubinemia, Nonspherocy...	OMIM:235700
Joubert Syndrome 9	Astigmatism, Retinal dystrophy, Hepatic fibrosis, Cataract, Stage 5 chronic kidney disease	OMIM:612285
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 2	Hyperphosphaturia, Hypophosphatemia, Nephrolithiasis, Renal phosphate wasting	OMIM:612287
Tay-Sachs Disease	Hypertonia, Blindness, Cherry red spot of the macula, Exaggerated startle response	OMIM:272800
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Autoimmune hemolytic anemia, Elevated circulating hepatic transaminase concentration, Iron defici...	ORPHA:37042
Mitochondrial Complex Iv Deficiency, Nuclear Type 7	Ventricular hypertrophy, Hyperalaninemia, Hypertrophic cardiomyopathy, Hyperammonemia, Cardiomegaly	OMIM:619051
Hemoglobin C-Beta-Thalassemia Syndrome	Splenomegaly, Anemia, Microcytic anemia, Abnormal hemoglobin	ORPHA:231242
Portal Hypertension, Noncirrhotic, 2	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Hepatocellular carcinoma, ...	OMIM:619463
Retinitis Pigmentosa 89	Constriction of peripheral visual field, Retinal thinning, Hyperautofluorescent retinal lesion, R...	OMIM:618955
Amoebiasis Due To Entamoeba Histolytica	Liver abscess, Anemia, Elevated circulating hepatic transaminase concentration, Leukocytosis, Abn...	ORPHA:67
Glycogen Storage Disease Ixc	Hypertriglyceridemia, Cirrhosis, Hepatomegaly, Elevated circulating hepatic transaminase concentr...	OMIM:613027
Idiopathic Pulmonary Hemosiderosis	Hepatomegaly, Iron deficiency anemia, Hepatosplenomegaly, Cardiomegaly, Glomerulonephritis	ORPHA:99931
Asparagine Synthetase Deficiency	Hypertonia, Global brain atrophy, Limb hypertonia, Optic nerve hypoplasia, Tremor, Cerebral visua...	OMIM:615574
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)	Cirrhosis, Jaundice, Elevated circulating hepatic transaminase concentration, Hypertyrosinemia, M...	OMIM:617156
Combined Oxidative Phosphorylation Deficiency 41	Cardiomegaly, Anemia, Elevated circulating creatine kinase concentration	OMIM:618838
Joubert Syndrome 8	Pigmentary retinopathy, Optic disc pallor	OMIM:612291
Molybdenum Cofactor Deficiency, Complementation Group A	Cerebral atrophy, Gliosis, Seizure, Myoclonic spasms, Peripheral demyelination, Axonal loss	OMIM:252150
Joubert Syndrome 6	Oculomotor apraxia, Ataxia, Chorioretinal coloboma, Retinal degeneration, Blindness	OMIM:610688
Bardet-Biedl Syndrome 17	Bone spicule pigmentation of the retina, Cone/cone-rod dystrophy, Retinal degeneration, Rod-cone ...	OMIM:615994
Beta-Thalassemia Intermedia	Decreased liver function, Cirrhosis, Jaundice, Hepatomegaly, Abnormality of iron homeostasis, Cho...	ORPHA:231222
Osteopetrosis, Autosomal Recessive 4	Optic atrophy, Hepatomegaly, Anemia, Reticulocytosis, Thrombocytopenia, Splenomegaly, Optic disc ...	OMIM:611490
Immunodeficiency 84	B lymphocytopenia, Splenomegaly	OMIM:619437
Attrv122I Amyloidosis	Anemia, Increased circulating NT-proBNP concentration, Cardiac amyloidosis, Restrictive cardiomyo...	ORPHA:85451
Dehydrated Hereditary Stomatocytosis 2	Anisopoikilocytosis, Jaundice, Hepatomegaly, Increased mean corpuscular hemoglobin concentration,...	OMIM:616689
Idiopathic Panuveitis	Choroidal neovascularization, Photophobia, Cystoid macular edema, Vitreous floaters, Vitreous sno...	ORPHA:280921
Ciliary Dyskinesia, Primary, 53	Abdominal situs inversus, Situs inversus totalis, Perimembranous ventricular septal defect, Paten...	OMIM:620642
Neurooculocardiogenitourinary Syndrome	Patent foramen ovale, Ventricular septal defect, Cardiomegaly, Atrial septal defect, Peters anomaly	OMIM:618652
Gaucher Disease Type 1	Decreased HDL cholesterol concentration, Ascites, Leukopenia, Splenomegaly, Pinguecula, Pancytope...	ORPHA:77259
Immunodeficiency 52	Lymphadenopathy, Abnormal natural killer cell count, T lymphocytopenia, Splenomegaly, Abnormal B ...	OMIM:617514
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency	Hepatomegaly, Lymphadenopathy, Decreased proportion of class-switched memory B cells, Splenomegal...	OMIM:619375
Transketolase Deficiency	Hepatomegaly, Increased level of ribose in urine, Patent foramen ovale, Elevated circulating ribi...	ORPHA:488618
Angioedema, Hereditary, 1	Peripheral axonal neuropathy, Axonal degeneration	OMIM:106100
Immunodeficiency 114, Folate-Responsive	Hypertriglyceridemia, Hepatomegaly, Megaloblastic anemia, Thrombocytopenia, Splenomegaly, Lymphop...	OMIM:620603
Lowry-Wood Syndrome	Abnormality of retinal pigmentation	ORPHA:1824
Foodborne Botulism	Paralysis, Diaphragmatic paralysis, Cerebral palsy, Diplopia	ORPHA:228371
Follicular Lymphoma	Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Abnormal peritoneum morphology	ORPHA:545
Retinitis Pigmentosa-Juvenile Cataract-Short Stature-Intellectual Disability Syndrome	Constriction of peripheral visual field, Patchy atrophy of the retinal pigment epithelium, Incoor...	ORPHA:436245
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome	Posterior lenticonus, Retinal dystrophy, Microcornea, Remnants of the hyaloid vascular system, Ch...	ORPHA:231736
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome	Corneal opacity, Persistent pupillary membrane, Abnormal heart morphology, Cataract, Aplasia/Hypo...	ORPHA:1067
Myopathy With Extrapyramidal Signs	Optic atrophy, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Hypervaline...	OMIM:615673
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant	Lymphadenopathy, Decreased proportion of class-switched memory B cells, Increased proportion of t...	OMIM:615513
Hyperparathyroidism, Transient Neonatal	Enlarged kidney, Unilateral renal agenesis, Splenic cyst	OMIM:618188
Lethal Congenital Contracture Syndrome 1	Paucity of anterior horn motor neurons	OMIM:253310
Cerebroretinal Microangiopathy With Calcifications And Cysts 1	Optic atrophy, Retinal telangiectasia, Abnormality of extrapyramidal motor function, Spasticity, ...	OMIM:612199
Familial Cold Autoinflammatory Syndrome 2	Lymphadenopathy, Leukocytosis, Splenomegaly, Elevated circulating C-reactive protein concentration	OMIM:611762
Ectodermal Dysplasia-Syndactyly Syndrome 2	Cardiomegaly	OMIM:613576
Hypophosphatemic Rickets, Autosomal Dominant	Hypophosphatemic rickets, Hypophosphatemia, Renal phosphate wasting	OMIM:193100
Fructose Intolerance, Hereditary	Bicarbonaturia, Cirrhosis, Jaundice, Hepatomegaly, Elevated circulating hepatic transaminase conc...	OMIM:229600
Hypophosphatemic Rickets With Hypercalciuria, Hereditary	Hypophosphatemic rickets, Renal phosphate wasting, Hypercalciuria, Calcium nephrolithiasis, Hypop...	OMIM:241530
Systemic-Onset Juvenile Idiopathic Arthritis	Hepatomegaly, Lymphadenopathy, Elevated circulating C-reactive protein concentration, Pericarditi...	ORPHA:85414
Snakebite Envenomation	Paralysis, Pseudobulbar paralysis, Respiratory paralysis	ORPHA:449285
Xfe Progeroid Syndrome	Optic atrophy, Elevated circulating hepatic transaminase concentration, Corneal scarring, Ascites...	OMIM:610965
Acquired Idiopathic Sideroblastic Anemia	Normocytic anemia, Hepatomegaly, Acute myeloid leukemia, Normochromic anemia, Pancytopenia, Anemi...	ORPHA:75564
Cholestasis, Progressive Familial Intrahepatic, 1	Cirrhosis, Jaundice, Hepatomegaly, Cholelithiasis, Intrahepatic cholestasis with episodic jaundic...	OMIM:211600
Xq21 Microdeletion Syndrome	Optic atrophy, Abnormal chorioretinal morphology, Chorioretinal degeneration, Progressive night b...	ORPHA:1435
Amyloidosis, Finnish Type	Cardiac amyloidosis, Cardiomyopathy, Optic neuropathy, Lattice corneal dystrophy, Nephrotic syndr...	OMIM:105120
Hypophosphatemic Rickets, Autosomal Recessive, 1	Hypophosphatemic rickets, Hypophosphatemia	OMIM:241520
Alagille Syndrome 1	Hypertriglyceridemia, Elevated circulating hepatic transaminase concentration, Cholestasis, Prolo...	OMIM:118450
Griscelli Syndrome	Abnormal circulating lipid concentration, Jaundice, Hepatomegaly, Lymphadenopathy, Ascites, Bone ...	ORPHA:381
Fucosidosis	Abnormality of the gallbladder, Hepatomegaly, Corneal opacity, Mucopolysacchariduria, Cardiomegaly	ORPHA:349
Immunodeficiency 76	Lymphadenopathy, B lymphocytopenia, T lymphocytopenia, Splenomegaly, Lymphopenia	OMIM:619164
Immunodeficiency, Common Variable, 2	Hepatomegaly, Lymphadenopathy, Abnormal T cell count, Splenomegaly, Conjunctivitis, Follicular hy...	OMIM:240500
Free Sialic Acid Storage Disease	Hepatomegaly, Ascites, Nephrotic syndrome, Iris hypopigmentation, Splenomegaly, Proteinuria	ORPHA:834
Multiple Sulfatase Deficiency	Optic atrophy, Hepatomegaly, Corneal opacity, Mucopolysacchariduria, Abnormality of retinal pigme...	ORPHA:585
Hennekam Lymphangiectasia-Lymphedema Syndrome 1	Pericardial lymphangiectasia, Intestinal lymphangiectasia, Ectopic kidney, Pleural lymphangiectas...	OMIM:235510
Persistent Hyperplastic Primary Vitreous	Microcornea, Corneal opacity, Persistent pupillary membrane, Remnants of the hyaloid vascular sys...	ORPHA:91495
Generalized Pustular Psoriasis	Elevated circulating hepatic transaminase concentration, Elevated circulating C-reactive protein ...	ORPHA:247353
Prolactinoma	Male hypogonadism, Erectile dysfunction, Progressive visual loss, Sudden loss of visual acuity, D...	ORPHA:2965
Infantile Liver Failure Syndrome 3	Jaundice, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Cholestasis, Hep...	OMIM:618641
Pfapa Syndrome	Splenomegaly, Hepatomegaly, Lymphadenopathy	ORPHA:42642
Hypokalemic Periodic Paralysis, Type 2	Periodic paralysis	OMIM:613345
Chronic Bilirubin Encephalopathy	Conjunctival icterus, Prolonged neonatal jaundice, Hypernatremia, Hypoalbuminemia, Neonatal hyper...	ORPHA:529808
Acute Bilirubin Encephalopathy	Conjunctival icterus, Prolonged neonatal jaundice, Hypernatremia, Hypoalbuminemia, Neonatal hyper...	ORPHA:529799
Mcleod Syndrome	Hepatomegaly, Reduced haptoglobin level, Cardiomyopathy, Elevated circulating creatine kinase con...	OMIM:300842
Joubert Syndrome 33	Cone/cone-rod dystrophy, Splenomegaly	OMIM:617767
Anterior Segment Dysgenesis 8	Optic nerve dysplasia, Iris transillumination defect, Microphakia, Iridodonesis, Corneal stromal ...	OMIM:617319
Arterial Calcification, Generalized, Of Infancy, 2	Cardiomegaly, Nephrocalcinosis, Hypophosphatemic rickets, Right atrial enlargement	OMIM:614473
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome	Optic atrophy, Cerebral atrophy, Generalized non-motor (absence) seizure, Generalized myoclonic s...	ORPHA:404454
Familial Acute Necrotizing Encephalopathy	Seizure, Gliosis	ORPHA:88619
Osteopetrosis, Autosomal Recessive 1	Optic atrophy, Facial palsy, Facial paralysis, Visual impairment, Blindness	OMIM:259700
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities	Optic atrophy, Calcinosis, Hypokalemia, Hypocalcemia, Renal artery stenosis, Renal hypoplasia, Hy...	OMIM:617913
Albers-Schönberg Osteopetrosis	Optic atrophy, Facial palsy, Blindness, Visual impairment	ORPHA:53
Pheochromocytoma/Paraganglioma Syndrome 1	Vagal paraganglioma, Extraadrenal pheochromocytoma, Adrenal pheochromocytoma, Vocal cord paralysi...	OMIM:168000
Cryoglobulinemic Vasculitis	Glomerulopathy, Hepatomegaly, Mediastinal lymphadenopathy, Hematuria, Viral hepatitis, Splenomega...	ORPHA:91138
Cardiomyopathy, Familial Hypertrophic, 4	Ventricular septal hypertrophy, Hepatomegaly, Muscular ventricular septal defect, Ventricular hyp...	OMIM:115197
Intellectual Developmental Disorder, X-Linked, Syndromic 32	Cardiomegaly	OMIM:300886
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome	Retinal detachment, Congenital blindness	ORPHA:436182
Autosomal Dominant Hypophosphatemic Rickets	Hypocalcemia, Hyperphosphaturia, Hypophosphatemia, Iron deficiency anemia	ORPHA:89937
Metachromatic Leukodystrophy, Juvenile Form	Optic atrophy, Babinski sign, Decreased nerve conduction velocity, Decerebrate rigidity, Spastici...	ORPHA:309263
Exudative Vitreoretinopathy 2, X-Linked	Retinal detachment, High myopia, Retinal fold, Intraretinal exudate, Peripheral vitreous opacitie...	OMIM:305390
Bardet-Biedl Syndrome 1	Bone spicule pigmentation of the retina, Aganglionic megacolon, Gait imbalance, Retinal dystrophy...	OMIM:209900
Cohen Syndrome	Optic atrophy, Bone spicule pigmentation of the retina, Bull's eye maculopathy, Nyctalopia, Reduc...	OMIM:216550
Renal Tubular Acidosis, Proximal, With Ocular Abnormalities And Impaired Intellectual Development	Hypokalemia, Band keratopathy, Bicarbonate-wasting renal tubular acidosis, Hyperamylasemia, Impai...	OMIM:604278
Dehydrated Hereditary Stomatocytosis	Macrocytic anemia, Cholelithiasis, Increased mean corpuscular hemoglobin concentration, Increased...	ORPHA:3202
Charcot-Marie-Tooth Disease, Axonal, Type 2Hh	Impaired temperature sensation, Fasciculations, Impaired pain sensation, Tremor, Impaired distal ...	OMIM:619574
Congenital Pulmonary Lymphangiectasia	Hepatomegaly, Chylopericardium, Ascites, Pulmonic stenosis, Splenomegaly	ORPHA:2414
B-Cell Expansion With Nfkb And T-Cell Anergy	Increased B cell count, Splenomegaly	OMIM:616452
Erythroderma, Lethal Congenital	Hypoalbuminemia	OMIM:227090
Pseudo-Torch Syndrome 1	Decreased liver function, Jaundice, Hepatomegaly, Elevated circulating hepatic transaminase conce...	OMIM:251290
Ogden Syndrome	Left atrial enlargement, Enlarged kidney, Jaundice, Macrovesicular hepatic steatosis, Iron defici...	OMIM:300855
Leprechaunism	Enlarged kidney, Hepatomegaly, Hypokalemia, Long penis, Hypercalciuria, Hypertrophic cardiomyopat...	ORPHA:508
Igg4-Related Pachymeningitis	Visual loss, Abnormality of cervical plexus, Diplopia, Abnormal optic nerve morphology, Parapares...	ORPHA:449427
Holoprosencephaly-Craniosynostosis Syndrome	Abnormality of retinal pigmentation	ORPHA:2163
Bacterial Toxic-Shock Syndrome	Myocarditis, Renal insufficiency, Hypocalcemia, Recurrent urinary tract infections, Increased cir...	ORPHA:36234
Vitreoretinal Degeneration, Snowflake Type	Retinal detachment, Retinal dots, Corneal guttata, Optically empty vitreous, Cataract, Snowflake ...	OMIM:193230
Immunodeficiency, Common Variable, 1	Hepatomegaly, Lymphadenopathy, Decreased proportion of class-switched memory B cells, B lymphocyt...	OMIM:607594
Tafro Syndrome	Hepatomegaly, Anemia, Lymphadenopathy, Elevated circulating C-reactive protein concentration, Leu...	ORPHA:457077
African Trypanosomiasis	Fasciculations, Optic neuritis, Impotence, Impaired proprioception, Akinesia, Difficulty walking,...	ORPHA:3385
Microphthalmia/Coloboma 12	Vesicoureteral reflux, Corneal opacity, Remnants of the hyaloid vascular system, Optic nerve apla...	OMIM:120200
Cataract-Intellectual Disability-Anal Atresia-Urinary Defects Syndrome	Hypospadias, Hypoplasia of penis, Aplasia/Hypoplasia of the lens, Tetralogy of Fallot, Cataract	ORPHA:1381
Muckle-Wells Syndrome	Optic atrophy, Hepatomegaly, Anemia, Nephrotic syndrome, Splenomegaly, Renal amyloidosis, Conjunc...	ORPHA:575
Diarrhea 10, Protein-Losing Enteropathy Type	Hypertriglyceridemia, Polyuria, Hypocalcemia, Ascites, Pericardial effusion, Hyponatremia, Hypoma...	OMIM:618183
Immunodeficiency 64 With Lymphoproliferation	Autoimmune hemolytic anemia, Cervical lymphadenopathy, Mediastinal lymphadenopathy, Lymphadenopat...	OMIM:618534
Multicystic Dysplastic Kidney	Enlarged kidney, Unilateral renal agenesis, Ureterovesical junction obstruction, Vesicoureteral r...	ORPHA:1851
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity	Autoimmune hemolytic anemia, Hepatomegaly, Lymphadenopathy, Recurrent urinary tract infections, S...	OMIM:618495
Adult-Onset Still Disease	Myocarditis, Abnormal circulating lipid concentration, Increased circulating ferritin concentrati...	ORPHA:829
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)	Cerebral atrophy, Epilepsia partialis continua, Focal myoclonic seizure, Cerebral cortical neurod...	OMIM:203700
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency	Jaundice, Fava bean-induced hemolytic anemia, Leukocytosis, Reticulocytosis, Poikilocytosis, Prol...	OMIM:300908
Parkinson Disease 1, Autosomal Dominant	Gliosis, Global brain atrophy, Myoclonus	OMIM:168601
Mitochondrial Complex Iv Deficiency, Nuclear Type 3	Macrocytic anemia, Increased serum pyruvate, Cardiomyopathy, Hyperalaninemia, Splenomegaly, Hyper...	OMIM:619046
Spinal Arteriovenous Metameric Syndrome	Abnormal spinal cord morphology, Spinal arteriovenous malformation, Paraparesis	ORPHA:53721
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly	Retinal pigment epithelial mottling	OMIM:617102
Cinca Syndrome	Hepatomegaly, Anemia, Lymphadenopathy, Elevated circulating C-reactive protein concentration, Leu...	ORPHA:1451
Glycogen Storage Disease Ii	Hepatomegaly, Urinary incontinence, Increased circulating NT-proBNP concentration, Elevated circu...	OMIM:232300
Transaldolase Deficiency	Decreased liver function, Atrial septal defect, Cirrhosis, Hepatomegaly, Anemia, Pancytopenia, Pa...	OMIM:606003
Wilson Disease	Cirrhosis, Jaundice, Hepatomegaly, Anemia, Elevated circulating hepatic transaminase concentratio...	ORPHA:905
Mucopolysaccharidosis Type 3	Optic atrophy, Constriction of peripheral visual field, Hypertonia, Spasticity, Central nervous s...	ORPHA:581
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related	Cerebral cortical atrophy, Neuronal loss in central nervous system, Gliosis	OMIM:607485
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome	Jaundice, Hepatomegaly, Cholestasis, Portal hypertension, Splenomegaly	ORPHA:59303
Neonatal Lupus Erythematosus	Aplastic anemia, Hepatomegaly, Anemia, Elevated circulating hepatic transaminase concentration, P...	ORPHA:398124
Cardiomyopathy, Dilated, 1Ii	Cataract, Dilated cardiomyopathy, Elevated circulating creatine kinase concentration	OMIM:615184
Oculoskeletodental Syndrome	Hepatomegaly, Hypercalciuria, Hypocalcemia, Mucopolysacchariduria, Renal agenesis, Developmental ...	OMIM:618440
Legionnaires Disease	Myocarditis, Jaundice, Pancreatitis, Lymphadenopathy, Hematuria, Renal insufficiency, Bone marrow...	ORPHA:549
Autosomal Recessive Malignant Osteopetrosis	Hepatomegaly, Anemia, Lymphadenopathy, Optic nerve compression, Hypocalcemia, Splenomegaly, Hypop...	ORPHA:667
Timothy Syndrome	Hypocalcemia, Patent foramen ovale, Tetralogy of Fallot, Cardiomegaly, Ventricular septal defect	OMIM:601005
Laryngeal Abductor Paralysis-Intellectual Disability Syndrome	Vocal cord paralysis	ORPHA:2375
Non-Functioning Pituitary Adenoma	Male hypogonadism, Erectile dysfunction, Progressive visual loss, Sudden loss of visual acuity, D...	ORPHA:91349
Indolent Systemic Mastocytosis	Hepatomegaly, Increased proportion of CD25+ mast cells, Lymphadenopathy, Mastocytosis, Splenomega...	ORPHA:98848
Autoimmune Lymphoproliferative Syndrome	Autoimmune hemolytic anemia, Hepatomegaly, Iron deficiency anemia, Neutropenia in presence of ant...	OMIM:601859
Spherocytosis, Type 1	Jaundice, Cholelithiasis, Hyperbilirubinemia, Spherocytosis, Reticulocytosis, Splenomegaly, Hemol...	OMIM:182900
Deafness-Lymphedema-Leukemia Syndrome	Acute leukemia, Hepatomegaly, Lymphadenopathy, Abnormal neutrophil count, Myeloproliferative diso...	ORPHA:3226
Congenital Tricuspid Valve Dysplasia	Tricuspid valve prolapse, Hepatomegaly, Abnormal tricuspid valve annulus morphology, Patent foram...	ORPHA:555874
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy	Optic atrophy, 3-Methylglutaconic aciduria, Increased hepatic glycogen content, Cardiomyopathy, C...	OMIM:619259
Metachromatic Leukodystrophy, Adult Form	Optic atrophy, Babinski sign, Decreased nerve conduction velocity, Difficulty walking, Chorea, Sp...	ORPHA:309271
Oculopharyngodistal Myopathy	Paraplegia, Vocal cord paresis, Loss of ambulation, Difficulty walking	ORPHA:98897
Hypokalemic Periodic Paralysis, Type 1	Periodic paralysis	OMIM:170400
Hypotrichosis With Juvenile Macular Degeneration	Abnormality of macular pigmentation, Macular degeneration, Blindness	ORPHA:1573
Niemann-Pick Disease, Type A	Sea-blue histiocytosis, Hepatomegaly, Lymphadenopathy, Bone-marrow foam cells, Ascites, Elevated ...	OMIM:257200
Alpha-Thalassemia-Myelodysplastic Syndrome	Acute leukemia, HbH hemoglobin, Thrombocytopenia, Splenomegaly, Microcytic anemia, Neutropenia	ORPHA:231401
Laryngotracheoesophageal Cleft Type 4	Abnormal lower motor neuron morphology	ORPHA:93941
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency	Hepatomegaly, Anemia, Lymphadenopathy, Elevated circulating hepatic transaminase concentration, V...	OMIM:615895
Pheochromocytoma/Paraganglioma Syndrome 3	Chemodectoma, Adrenal pheochromocytoma, Vocal cord paralysis, Paraganglioma, Glomus jugular tumor...	OMIM:605373
Non-Specific Early-Onset Epileptic Encephalopathy	Optic atrophy, Cerebral atrophy, Brain atrophy, Seizure, Abnormal myelination, Myoclonus, Status ...	ORPHA:442835
Leukocyte Adhesion Deficiency, Type Iii	Hepatomegaly, Abnormal lymph node morphology, Anemia, Leukocytosis, Hepatosplenomegaly, Splenomeg...	OMIM:612840
Hyperlipoproteinemia, Type Id	Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hepatomegaly, Pancreatitis, Increa...	OMIM:615947
Alg12-Cdg	Muscular ventricular septal defect, Elevated circulating hepatic transaminase concentration, Hypo...	ORPHA:79324
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects	Hyperkalemia, Jaundice, Hepatomegaly, Splenomegaly, Conjugated hyperbilirubinemia, Cataract, Stom...	OMIM:608885
Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, And Migraine Headache Syndrome	Cone/cone-rod dystrophy, Splenomegaly, Pancytopenia	OMIM:614979
Myopathy, Tubular Aggregate, 1	Frequent falls, Nyctalopia	OMIM:160565
Parenteral Nutrition-Associated Cholestasis	Cirrhosis, Jaundice, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Chole...	ORPHA:567983
Tsh-Secreting Pituitary Adenoma	Erectile dysfunction, Impotence, Female hypogonadism, Hypogonadism, Decreased female libido, Decr...	ORPHA:91347
Cold Agglutinin Disease	Hepatomegaly, Lymphadenopathy, Splenomegaly, Abnormal urinary color, Hemolytic anemia	ORPHA:56425
Congenital Myopathy 15	Waddling gait, Vocal cord paralysis	OMIM:620161
Hb Bart'S Hydrops Fetalis	Hepatomegaly, Anemia, Pericarditis, Splenomegaly, Abnormal hemoglobin	ORPHA:163596
Spongiform Encephalopathy With Neuropsychiatric Features	Gliosis	OMIM:606688
Immunodeficiency 43	B lymphocytopenia, Hypoproteinemia, Decreased circulating beta-2-microglobulin level, Hypoalbumin...	OMIM:241600
Autoimmune Lymphoproliferative Syndrome, Type Iia	Autoimmune hemolytic anemia, Hepatomegaly, Iron deficiency anemia, Lymphadenopathy, Neutropenia i...	OMIM:603909
Mannosidosis, Alpha B, Lysosomal	Gliosis, Cerebellar atrophy, Corpus callosum atrophy, Cerebral cortical atrophy, Delayed myelination	OMIM:248500
Lymphoproliferative Syndrome 2	Aplastic anemia, Hepatomegaly, Hemophagocytosis, Lymphadenopathy, Pancytopenia, Ascites, Hepatosp...	OMIM:615122
Gaucher Disease, Type I	Hepatomegaly, Anemia, Pancytopenia, Aortic valve stenosis, Thrombocytopenia, Splenomegaly, Hypers...	OMIM:230800
Chylomicron Retention Disease	Hypoalbuminemia, Decreased LDL cholesterol concentration, Hypocholesterolemia, Hypotriglyceridemia	OMIM:246700
Wolfram Syndrome 1	Optic atrophy, Hydroureter, Megaloblastic anemia, Neurogenic bladder, Cardiomyopathy, Sideroblast...	OMIM:222300
Lowry-Wood Syndrome	Pigmentary retinopathy	OMIM:226960
Microcephaly-Lymphedema-Chorioretinopathy Syndrome	Optic atrophy, Hypertonia, Visual loss, Retinal dysplasia, Retinal dystrophy, Retinal detachment,...	ORPHA:2526
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency	Hypertriglyceridemia, Hepatocellular adenoma, Cirrhosis, Portal fibrosis, Hepatomegaly, Anemia, R...	ORPHA:264580
Deafness, Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome	Optic atrophy, High myopia, Cerebral atrophy, Blindness	OMIM:220500
Spastic Paraplegia, Intellectual Disability, Nystagmus, And Obesity	Spastic gait, Optic nerve dysplasia, Tip-toe gait, Cerebral atrophy, Limb hypertonia, Hypermetrop...	OMIM:617296
Denys-Drash Syndrome	Enlarged kidney, Focal segmental glomerulosclerosis, Nephrotic syndrome, Diffuse mesangial sclero...	OMIM:194080
Inhalational Botulism	Paralysis, Diplopia	ORPHA:254504
White-Sutton Syndrome	Optic atrophy, Hypermetropia, Incoordination, Subcortical cerebral atrophy, Cerebellar atrophy, C...	ORPHA:468678
Congenital Bile Acid Synthesis Defect Type 4	Cholestatic liver disease, Giant cell hepatitis, Elevated circulating hepatic transaminase concen...	ORPHA:79095
Histiocytosis-Lymphadenopathy Plus Syndrome	Corneal arcus, Hepatomegaly, Lymphadenopathy, Pancreatic hypoplasia, Pulmonic stenosis, Histiocyt...	OMIM:602782
Sporadic Pheochromocytoma/Secreting Paraganglioma	Extraadrenal pheochromocytoma, Adrenal pheochromocytoma, Tremor, Vocal cord paralysis, Cranial ne...	ORPHA:276621
Joubert Syndrome With Hepatic Defect	Cirrhosis, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Renal insuffici...	ORPHA:1454
Immunodeficiency 97 With Autoinflammation	Autoimmune hemolytic anemia, Hypertriglyceridemia, Increased circulating ferritin concentration, ...	OMIM:619802
Glycogen Storage Disease Xii	Normocytic anemia, Jaundice, Hepatomegaly, Decreased erythrocyte fructose-1,6-bisphosphate aldola...	OMIM:611881
Methylmalonate Semialdehyde Dehydrogenase Deficiency	Retinal pigment epithelial mottling	OMIM:614105
Progressive Supranuclear Palsy	Cerebral cortical atrophy, Neuronal loss in central nervous system, Gliosis	ORPHA:683
Eosinophilic Gastroenteritis	Anemia, Elevated circulating C-reactive protein concentration, Leukocytosis, Ascites, Eosinophili...	ORPHA:2070
Methanol Poisoning	Visual impairment, Blindness, Abnormal optic nerve morphology, Blurred vision	ORPHA:31825
Sturge-Weber Syndrome	Optic atrophy, Retinal detachment, Abnormality of vision, Blindness, Cerebral cortical atrophy, H...	ORPHA:3205
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism	Developmental glaucoma, Hepatomegaly, Splenic cyst, Increased circulating thyroglobulin concentra...	OMIM:610199
Autoinflammation With Arthritis And Dyskeratosis	Autoimmune hemolytic anemia, Corneal neovascularization, Hepatomegaly, Elevated circulating C-rea...	OMIM:617388
Osteopetrosis, Autosomal Recessive 3	Periodic hypokalemic paresis, Visual loss, Optic nerve compression, Visual impairment	OMIM:259730
Kawasaki Disease	Myocarditis, Cervical lymphadenopathy, Jaundice, Elevated circulating C-reactive protein concentr...	ORPHA:2331
Thyrotoxic Periodic Paralysis, Susceptibility To, 2	Periodic paralysis, Tremor	OMIM:613239
Spherocytosis, Type 4	Jaundice, Hyperbilirubinemia, Spherocytosis, Reticulocytosis, Splenomegaly, Hemolytic anemia	OMIM:612653
Hypocomplementemic Urticarial Vasculitis	Glomerulopathy, Hepatomegaly, Hematuria, Lymphadenopathy, Abnormal heart valve morphology, Ascite...	ORPHA:36412
Overhydrated Hereditary Stomatocytosis	Jaundice, Hepatomegaly, Increased mean corpuscular volume, Hyperbilirubinemia, Reticulocytosis, P...	OMIM:185000
Macular Dystrophy, Retinal, 3	Color vision defect, Hyperautofluorescent macular lesion, Central scotoma, Macular drusen, Reduce...	OMIM:608850
Congenital Lethal Erythroderma	Hypoalbuminemia	ORPHA:1954
Xeroderma Pigmentosum, Complementation Group B	Optic atrophy, Decreased nerve conduction velocity, Freckling, Pigmentary retinopathy	OMIM:610651
Autoimmune Hepatitis	Cirrhosis, Jaundice, Elevated circulating hepatic transaminase concentration, Sclerosing cholangi...	ORPHA:2137
Pseudohypoaldosteronism Type 2	Periodic paralysis	ORPHA:757
Peroxisome Biogenesis Disorder 5A (Zellweger)	Cholestasis, Renal cortical microcysts, Splenomegaly, Optic nerve dysplasia, Optic atrophy, Jaund...	OMIM:614866
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome	Rod-cone dystrophy, Pigmentary retinopathy	ORPHA:2235
Leukodystrophy, Hypomyelinating, 12	Optic atrophy, Spasticity, Cerebral visual impairment, Cerebellar atrophy, Abnormal autonomic ner...	OMIM:616683
Biliary, Renal, Neurologic, And Skeletal Syndrome	Inlet ventricular septal defect, Intrahepatic bile duct dilatation, Cholestasis, Biliary cirrhosi...	OMIM:619534
Leigh Syndrome	Optic atrophy, Sensory axonal neuropathy, Gliosis, Seizure, Cerebellar atrophy, Infantile spasms,...	ORPHA:506
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome	Hepatomegaly, Hypocalcemia, Abnormal renal morphology, Pancreatic lymphangiectasis, Hypoproteinem...	ORPHA:1655
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset	Hepatomegaly, Elevated circulating creatine kinase concentration, Hypertrophic cardiomyopathy, El...	ORPHA:308552
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly	Hepatomegaly, Hypocalcemia, Pancreatic lymphangiectasis, Hypoproteinemia, Ascites, Hydronephrosis...	OMIM:235255
Hemoglobin E Disease	Hypochromic microcytic anemia, Increased red blood cell count, Drug-sensitive hemolytic anemia, H...	ORPHA:2133
Hardikar Syndrome	Decreased liver function, Elevated circulating hepatic transaminase concentration, Intrahepatic b...	OMIM:301068
Immunodeficiency 7	Autoimmune hemolytic anemia, Hepatomegaly, Lymphadenopathy, Splenomegaly, Hypereosinophilia, Neut...	OMIM:615387
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome	Generalized hypopigmentation, Abnormality of retinal pigmentation, Multiple cafe-au-lait spots, M...	ORPHA:1969
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive	Iris coloboma, Microcornea, Corneal opacity, Retinal nonattachment, Persistent pupillary membrane...	OMIM:221900
Exfoliation Syndrome	Mydriasis, Phakodonesis, Pseudoexfoliation, Iris hypoperfusion, Anisocoria, Pigment deposition in...	OMIM:177650
Hyperkalemic Periodic Paralysis	Hypertonia, Periodic hyperkalemic paralysis, Fasciculations, Cerebral palsy, Gait disturbance, Pa...	ORPHA:682
Alpha-Thalassemia	Anisopoikilocytosis, Hemoglobin Barts, Jaundice, Anemia, Cholelithiasis, Reticulocytosis, Pericar...	ORPHA:846
Micro Syndrome	Optic atrophy, Abnormality of retinal pigmentation, Retinal coloboma	ORPHA:2510
Mucopolysaccharidosis, Type Ii	Papilledema, Abnormality of retinal pigmentation, Cervical cord compression	OMIM:309900
Cryohydrocytosis	Reticulocytosis, Splenomegaly, Stomatocytosis, Hemolytic anemia, Pseudohyperkalemia	OMIM:185020
Mccune-Albright Syndrome	Hepatocellular adenoma, Pancreatitis, Renal phosphate wasting, Pancytopenia, Cholestasis, Bone ma...	ORPHA:562
Congenital Enterocyte Heparan Sulfate Deficiency	Hypoalbuminemia, Abnormal circulating polysaccharide concentration, Abnormal circulating protein ...	ORPHA:103910
Spherocytosis, Type 2	Jaundice, Hyperbilirubinemia, Spherocytosis, Reticulocytosis, Splenomegaly, Acanthocytosis, Hemol...	OMIM:616649
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1	Pigmentary retinopathy	OMIM:600462
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly	Renal dysplasia, Polycystic kidney dysplasia, Enlarged kidney, Micropenis	OMIM:613091
Knobloch Syndrome	Abnormal vitreous humor morphology, Dextrocardia, Retinal detachment, Macular degeneration, Vitre...	ORPHA:1571
Farber Lipogranulomatosis	Lipogranulomatosis, Splenomegaly, Hepatomegaly, Cherry red spot of the macula	OMIM:228000
Kleefstra Syndrome Due To A Point Mutation	Seizure, Gliosis	ORPHA:261652
Alpha-Mannosidosis, Adult Form	Pancytopenia, Corneal opacity, Hepatosplenomegaly, Cataract, Oligosacchariduria, Optic disc pallor	ORPHA:309288
Galloway-Mowat Syndrome 1	Optic atrophy, Focal segmental glomerulosclerosis, Hypoplasia of the iris, Nephrotic syndrome, Hy...	OMIM:251300
Primary Myelofibrosis	Hepatomegaly, Anemia, Thrombocytosis, Lymphadenopathy, Pancytopenia, Leukocytosis, Portal hyperte...	ORPHA:824
Encephalocraniocutaneous Lipomatosis	Cerebral atrophy, Hypertonia, Tetraplegia, Spasticity, Subcortical cerebral atrophy, Cerebral cor...	ORPHA:2396
T-Cell Lymphoma, Subcutaneous Panniculitis-Like	Hypertriglyceridemia, Anemia, Hemophagocytosis, Pancytopenia, Splenomegaly, Increased circulating...	OMIM:618398
Isolated Complex I Deficiency	Blindness, Ataxia, Optic disc pallor, Optic neuropathy	ORPHA:2609
Primary Fanconi Renotubular Syndrome	Low-molecular-weight proteinuria, Bicarbonaturia, Hypophosphatemic rickets, Generalized aminoacid...	ORPHA:3337
Liver Disease, Severe Congenital	Left atrial enlargement, Elevated circulating hepatic transaminase concentration, Lymphocytosis, ...	OMIM:619991
Machado-Joseph Disease	Gliosis, Cerebellar atrophy	OMIM:109150
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome	Jaundice, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Increased total ...	ORPHA:309854
Budd-Chiari Syndrome	Cirrhosis, Jaundice, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Ascit...	ORPHA:131
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6	Optic atrophy, Pigmentary retinopathy, Retinal dysplasia	OMIM:613154
Drug-Induced Autoimmune Hemolytic Anemia	Autoimmune hemolytic anemia, Abnormal urinary color, Splenomegaly, Increased total bilirubin	ORPHA:90037
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure	Glomerulopathy, Normochromic anemia, Nephropathy, Focal segmental glomerulosclerosis, Nephrotic s...	OMIM:254900
Hyperparathyroidism-Jaw Tumor Syndrome	Pancreatitis, Hypercalciuria, Renal hamartoma, Nephrolithiasis, Renal cyst, Nephrocalcinosis, Hyp...	ORPHA:99880
Isolated Biliary Atresia	Decreased liver function, Cirrhosis, Jaundice, Hepatomegaly, Elevated circulating hepatic transam...	ORPHA:30391
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome	Retinal thinning, Retinal atrophy, Cone/cone-rod dystrophy, Abnormality of retinal pigmentation, ...	ORPHA:85167
Endocrine-Cerebroosteodysplasia	Enlarged kidney, Hyperechogenic kidneys, Hypospadias, Microphallus	OMIM:612651
Metaphyseal Chondrodysplasia, Jansen Type	Hypercalciuria, Hyperphosphaturia, Nephrocalcinosis, Hypercalcemia, Hypophosphatemia	OMIM:156400
Thrombocythemia 1	Thrombocytosis, Splenomegaly	OMIM:187950
Familial Hypocalciuric Hypercalcemia	Hypermagnesemia, Hypocalcemic seizures, Pancreatitis, Hypomagnesiuria, Hypocalciuria, Reduced rat...	ORPHA:405
Osteopetrosis, Autosomal Dominant 3	Hepatomegaly, Anemia, Splenomegaly	OMIM:618107
Anemia, Congenital Dyserythropoietic, Type Ia	Hepatomegaly, Hyperbilirubinemia, Macrocytic dyserythropoietic anemia, Anemia of inadequate produ...	OMIM:224120
Hemihyperplasia-Multiple Lipomatosis Syndrome	Nephroblastoma, Abnormality of the lymphatic system, Enlarged kidney	ORPHA:276280
Retinitis Pigmentosa 82 With Or Without Situs Inversus	Reduced sperm motility, Reduced visual acuity, Rod-cone dystrophy, Macular atrophy, Optic disc pa...	OMIM:615434
Hereditary Spherocytosis	Jaundice, Hepatomegaly, Anemia, Cholelithiasis, Spontaneous hemolytic crises, Increased mean corp...	ORPHA:822
Omenn Syndrome	Hepatomegaly, Anemia, Lymphadenopathy, B lymphocytopenia, Hypoproteinemia, Hypoplasia of the thym...	OMIM:603554
Hyperlipoproteinemia, Type I	Lactescent serum, Jaundice, Increased circulating chylomicron concentration, Acute pancreatitis, ...	OMIM:238600
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency	Jaundice, Cholelithiasis, Spontaneous hemolytic crises, Nonspherocytic hemolytic anemia, Impaired...	OMIM:613470
Wolman Disease	Hepatomegaly, Anemia, Bone-marrow foam cells, Ascites, Splenomegaly, Hepatic failure	ORPHA:75233
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis	Hepatomegaly, Chronic hemolytic anemia, Microvesicular hepatic steatosis, Ventricular hypertrophy...	OMIM:618278
Parathyroid Carcinoma	Pancreatitis, Hypercalciuria, Renal hamartoma, Nephrolithiasis, Renal cyst, Nephrocalcinosis, Hyp...	ORPHA:143
D-Bifunctional Protein Deficiency	Cerebral dysmyelination, Seizure, Gliosis, Cerebellar atrophy, Bilateral tonic-clonic seizure, Co...	OMIM:261515
Fixed Subaortic Stenosis	Atrioventricular canal defect, Cardiomegaly, Bacterial endocarditis, Pulmonic stenosis, Abnormal ...	ORPHA:3092
Cancer-Associated Retinopathy	Optic atrophy, Granular macular appearance, Constriction of peripheral visual field, Adult-onset ...	ORPHA:71505
Vitamin D Hydroxylation-Deficient Rickets, Type 1A	Hypocalcemia, Hypocalcemic seizures, Hypophosphatemia, Generalized aminoaciduria	OMIM:264700
3-Methylglutaconic Aciduria Type 7	3-Methylglutaconic aciduria, Infection associated neutropenia, Elevated circulating hepatic trans...	ORPHA:445038
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis	Jaundice, Hepatomegaly, Anemia of inadequate production, Exocrine pancreatic insufficiency, Splen...	OMIM:612714
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form	Anemia, Corneal erosion, Decreased circulating carnitine concentration, Decreased circulating iro...	ORPHA:89842
Hypocalcemic Vitamin D-Resistant Rickets	Hypocalcemia, Hypophosphatemia, Nephrolithiasis	ORPHA:93160
Meningioma	Difficulty walking, Bitemporal hemianopia, Slow decrease in visual acuity, Hemifacial spasm, Faci...	ORPHA:2495
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type	Hypospadias, Ascites, Hypertrophic cardiomyopathy, Hydronephrosis, Cardiomegaly, Ventricular sept...	OMIM:616897
Immunodeficiency 10	Autoimmune hemolytic anemia, Hepatomegaly, Lymphadenopathy, Recurrent urinary tract infections, A...	OMIM:612783
Intermediate Uveitis	Cystoid macular edema, Optic neuritis, Vitreous floaters, Vitreous snowballs, Band keratopathy, V...	ORPHA:279914
Spinocerebellar Ataxia With Axonal Neuropathy Type 2	Elevated circulating creatine kinase concentration, Urinary bladder sphincter dysfunction, Elevat...	ORPHA:64753
Smith-Lemli-Opitz Syndrome	Cholestatic liver disease, Splenomegaly, Hypocholesterolemia, Hepatic steatosis, Hypospadias, Cat...	OMIM:270400
Neurodevelopmental Disorder With Brain Anomalies And With Or Without Vertebral Or Cardiac Anomalies	Blindness	OMIM:618731
Syndromic Diarrhea	Bicuspid aortic valve, Cirrhosis, Hepatomegaly, Atrial septal defect, Abnormality of iron homeost...	ORPHA:84064
Mogs-Cdg	Optic atrophy, Hepatomegaly, Thrombocytopenia, Hepatosplenomegaly, Left ventricular hypertrophy, ...	ORPHA:79330
Autoinflammatory Disease, Systemic, With Vasculitis	Jaundice, Hepatomegaly, Anemia, Elevated circulating C-reactive protein concentration, Increased ...	OMIM:620376
Oculocerebrorenal Syndrome Of Lowe	Corneal opacity, Nephrocalcinosis, Multiple renal cysts, Hypophosphatemia, Chorioretinal dysplasi...	ORPHA:534
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2	Cholestatic liver disease, Hypertriglyceridemia, Cirrhosis, Hepatomegaly, Anemia, Lymphadenopathy...	OMIM:619418
Aceruloplasminemia	Macular degeneration, Retinal degeneration, Abnormality of retinal pigmentation	ORPHA:48818
Kearns-Sayre Syndrome	Pigmentary retinopathy	OMIM:530000
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance	Minimal change glomerulonephritis, Hyperlipidemia, Ascites, Focal segmental glomerulosclerosis, M...	ORPHA:567546
Multiple Sulfatase Deficiency	Hepatomegaly, Corneal opacity, Mucopolysacchariduria, Splenomegaly, Retinal degeneration	OMIM:272200
Uremic Pruritus	Hypermagnesemia, Increased blood urea nitrogen, Hypercalcemia, Chronic kidney disease, Renal hypo...	ORPHA:94059
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy	Retinal dystrophy, Retinal detachment, Corneal scarring, Chorioretinal coloboma, Cataract, Buphth...	OMIM:212550
Spherocytosis, Type 5	Jaundice, Abnormal platelet count, Spherocytosis, Reticulocytosis, Splenomegaly, Hemolytic anemia...	OMIM:612690
Sitosterolemia 1	Corneal arcus, Chronic hemolytic anemia, Giant platelets, Anemia, Reduced haptoglobin level, Elev...	OMIM:210250
Hemolytic Anemia, Cd59-Mediated, With Or Without Immune-Mediated Polyneuropathy	Paralysis	OMIM:612300
Mucopolysaccharidosis, Type Iiic	Hepatomegaly, Asymmetric septal hypertrophy, Splenomegaly, Rod-cone dystrophy, Heparan sulfate ex...	OMIM:252930
Dominant Beta-Thalassemia	Cirrhosis, Jaundice, Hypochromic microcytic anemia, Abnormality of iron homeostasis, Decreased me...	ORPHA:231226
Short Stature, Hearing Loss, Retinitis Pigmentosa, And Distinctive Facies	High myopia, Cerebellar atrophy, Cerebral cortical atrophy, Myopia, Rod-cone dystrophy, Nyctalopia	OMIM:617763
Adams-Oliver Syndrome 5	Patent foramen ovale, Right atrial enlargement, Portal vein thrombosis, Pulmonic stenosis, Spleno...	OMIM:616028
Proteus Syndrome	Retinal hamartoma, Enlarged kidney, Buphthalmos, Long penis, Retinal nonattachment, Neoplasm of t...	ORPHA:744
Helsmoortel-Van Der Aa Syndrome	Enlarged kidney, Astigmatism, Recurrent urinary tract infections, Enuresis nocturna, Abnormal hea...	OMIM:615873
Hyperferritinemia With Or Without Cataract	Decreased transferrin saturation, Abnormal transferrin saturation, Anterior subcapsular cataract,...	OMIM:600886
Hereditary Pheochromocytoma-Paraganglioma	Extraadrenal pheochromocytoma, Adrenal pheochromocytoma, Retinal capillary hemangioma, Tremor, Vo...	ORPHA:29072
Erythrocytosis, Familial, 8	Reduced erythrocyte bisphosphoglycerate mutase activity, Polycythemia, Increased circulating hemo...	OMIM:222800
Immunodeficiency 47	Normocytic anemia, Cirrhosis, Hepatomegaly, Elevated circulating hepatic transaminase concentrati...	OMIM:300972
Bietti Crystalline Corneoretinal Dystrophy	Constriction of peripheral visual field, High myopia, Progressive night blindness, Chorioretinal ...	OMIM:210370
Amoebiasis Due To Free-Living Amoebae	Visual loss, Photophobia, Facial palsy, Abnormal spinal cord morphology, Hemiparesis, Ataxia, Bli...	ORPHA:68
Neuromuscular Oculoauditory Syndrome	Decreased amplitude of sensory action potentials, Decreased nerve conduction velocity, Retinal pi...	OMIM:618733
Prolidase Deficiency	White forelock, Abnormality of retinal pigmentation	ORPHA:742
Proteus-Like Syndrome	Thymus hyperplasia, Retinal detachment, Heterochromia iridis, Splenomegaly, Cataract, Limbal derm...	ORPHA:2969
Pparg-Related Familial Partial Lipodystrophy	Hypertriglyceridemia, Cirrhosis, Hepatomegaly, Pancreatitis, Hyperuricemia, Hypertrophic cardiomy...	ORPHA:79083
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency	Hypertriglyceridemia, Hepatocellular adenoma, Cirrhosis, Hepatomegaly, Anemia, Elevated circulati...	ORPHA:79240
Hydranencephaly	Optic nerve hypoplasia, Chorioretinal atrophy, Cerebral cortical atrophy, Opisthotonus, Blindness...	ORPHA:2177
Autosomal Dominant Keratitis	Corneal neovascularization, Aniridia, Limbal stem cell deficiency, Microcornea, Abnormal corneal ...	ORPHA:2334
Thrombophilia Due To Protein S Deficiency, Autosomal Recessive	Blindness	OMIM:614514
Gm1 Gangliosidosis Type 1	Decerebrate rigidity, Spasticity, Exaggerated startle response, Diffuse cerebral atrophy, Cherry ...	ORPHA:79255
Thrombocytopenia With Beta-Thalassemia, X-Linked	Reticulocytosis, Reduced platelet alpha granules, Increased mean platelet volume, Thrombocytopeni...	OMIM:314050
Simpson-Golabi-Behmel Syndrome, Type 1	Enlarged kidney, Hepatomegaly, Transposition of the great arteries, Hypospadias, Ventricular sept...	OMIM:312870
Supranuclear Palsy, Progressive, 1	Cerebral atrophy, Senile plaques, Neuronal loss in central nervous system, Astrocytosis, Gliosis,...	OMIM:601104
Hyperkalemic Periodic Paralysis	Periodic hyperkalemic paralysis	OMIM:170500
Cantu Syndrome	Cardiomegaly, Bicuspid aortic valve, Pericardial effusion, Congenital hypertrophy of left ventricle	OMIM:239850
Cryptococcosis	Prostatitis, Abnormal cranial nerve morphology, Abnormality of vision, Blindness, Abnormal optic ...	ORPHA:1546
Vitamin D Hydroxylation-Deficient Rickets, Type 1B	Hypocalcemia, Hypophosphatemia	OMIM:600081
Kanzaki Disease	Cerebral atrophy, Peripheral axonal neuropathy, Axonal degeneration	OMIM:609242
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome	Lymphadenopathy, B lymphocytopenia, Splenomegaly, Intermittent thrombocytopenia, Abnormal CD4:CD8...	OMIM:150550
Beta-Thalassemia Major	Anisopoikilocytosis, Cirrhosis, Jaundice, Hepatomegaly, Hypochromic microcytic anemia, Abnormalit...	ORPHA:231214
Multiple Acyl-Coa Dehydrogenase Deficiency	Seizure, Gliosis	ORPHA:26791
Retinitis Pigmentosa 97	Macular degeneration, Reduced visual acuity, Rod-cone dystrophy, Amblyopia, Nyctalopia	OMIM:620422
Scheie Syndrome	Mucopolysacchariduria, Hepatomegaly, Corneal opacity, Splenomegaly	ORPHA:93474
Hypopigmentation, Organomegaly, And Delayed Myelination And Development	Reduced renal corticomedullary differentiation, Hepatomegaly, Splenomegaly	OMIM:618541
Neurodevelopmental Disorder With Hypotonia And Speech Delay, With Or Without Seizures	Generalized non-motor (absence) seizure, Epileptic spasm, Focal-onset seizure, Optic nerve hypopl...	OMIM:620455
Mitochondrial Trifunctional Protein Deficiency 1	Pigmentary retinopathy	OMIM:609015
Hypophosphatemic Bone Disease	Hypophosphatemia	OMIM:146350
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis	Gliosis, Seizure, Cerebellar atrophy, Cerebral cortical atrophy, Myoclonus, Status epilepticus	OMIM:301072
Cockayne Syndrome Type 3	Elevated circulating hepatic transaminase concentration, Retinal atrophy, Cardiomyopathy, Splenom...	ORPHA:90324
Porphyria, Acute Intermittent	Paralysis, Paresthesia, Respiratory paralysis	OMIM:176000
Ectopia Lentis Et Pupillae	Iris transillumination defect, Retinal detachment, Persistent pupillary membrane, Ectopia lentis,...	OMIM:225200
Norrie Disease	Optic atrophy, Retinal dysplasia, Retinal detachment, Blindness, Retinal fold	OMIM:310600
Hypophosphatemic Rickets And Hyperparathyroidism	Hypophosphatemic rickets, Hypercalcemia, Hypophosphatemia, Renal phosphate wasting	OMIM:612089
Oculoauricular Syndrome	Microphakia, Ocular anterior segment dysgenesis, Posterior synechiae of the anterior chamber, Ret...	OMIM:612109
Fuchs Heterochromic Iridocyclitis	Photophobia, Vitreous floaters, Chorioretinal scar, Best corrected visual acuity 0.1 LogMAR, Abno...	ORPHA:263479
Pseudohypoaldosteronism, Type Iia	Periodic hyperkalemic paralysis	OMIM:145260
Marburg Hemorrhagic Fever	Jaundice, Pancreatitis, Lymphadenopathy, Elevated circulating hepatic transaminase concentration,...	ORPHA:99826
Hurler Syndrome	Hepatomegaly, Corneal opacity, Cardiomyopathy, Dermatan sulfate excretion in urine, Enlarged tons...	OMIM:607014
Insulin-Resistance Syndrome Type B	Abnormal circulating lipid concentration, Hypotriglyceridemia, Biliary cirrhosis, Enlarged polycy...	ORPHA:2298
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis	Jaundice, Hepatomegaly, Sclerosing cholangitis, Intrahepatic biliary atresia, Cholestasis, Portal...	OMIM:607626
Stickler Syndrome, Type I	Retinal detachment, Membranous vitreous appearance, Vitreoretinopathy, Myopia, Retinal hole, Blin...	OMIM:108300
Gm1-Gangliosidosis, Type I	Hepatomegaly, Vacuolated lymphocytes, Abnormal heart valve morphology, Hypertrophic cardiomyopath...	OMIM:230500
Pituitary Carcinoma	Hemianopia, Ataxia, Reduced visual acuity, Spinal cord lesion, Abnormal central motor function, P...	ORPHA:300385
Mitochondrial Complex I Deficiency, Nuclear Type 1	Babinski sign, Tongue fasciculations, Spasticity, Cerebellar atrophy, Blindness, Optic neuropathy...	OMIM:252010
Osteopetrosis, Autosomal Recessive 5	Optic atrophy, Mydriasis, Hepatomegaly, Anemia, Hypochromic microcytic anemia, Pancytopenia, Hypo...	OMIM:259720
Lymphedema-Hypoparathyroidism Syndrome	Renal insufficiency, Mitral valve prolapse, Pulmonary lymphangiectasia, Cataract, Nephropathy	OMIM:247410
Gaucher Disease, Perinatal Lethal	Hepatomegaly, Anemia, Ascites, Thrombocytopenia, Hepatosplenomegaly, Splenomegaly, Cardiomegaly, ...	OMIM:608013
Omenn Syndrome	Hepatomegaly, Anemia, Lymphadenopathy, Abnormal lymphocyte morphology, Leukocytosis, Nephrotic sy...	ORPHA:39041
Neurodegeneration And Seizures Due To Copper Transport Defect	Glandular hypospadias, Abnormal circulating ceruloplasmin concentration, Abnormal circulating cop...	OMIM:620306
Autoinflammation With Pulmonary And Cutaneous Vasculitis	Hepatomegaly, Anemia, Splenomegaly	OMIM:620296
Thyrotoxic Periodic Paralysis, Susceptibility To, 1	Periodic paralysis	OMIM:188580
Gitelman Syndrome	Paralysis, Ataxia, Blurred vision, Paresthesia	OMIM:263800
Biotinidase Deficiency	Optic atrophy, Hepatomegaly, Organic aciduria, Hyperammonemia, Splenomegaly, Conjunctivitis	OMIM:253260
Mitochondrial Complex I Deficiency, Nuclear Type 2	Seizure, Gliosis	OMIM:618222
American Trypanosomiasis	Myocarditis, Hepatomegaly, Lymphadenopathy, Cardiomyopathy, Splenomegaly	ORPHA:3386
Alport Syndrome 2, Autosomal Recessive	Hematuria, Corneal erosion, Renal insufficiency, Nephrotic syndrome, Thickened glomerular basemen...	OMIM:203780
Secondary Intestinal Lymphangiectasia	Cirrhosis, Decreased circulating prealbumin concentration, Chylous ascites, Lymphopenia, Reduced ...	ORPHA:90363
Neurodevelopmental Disorder With Intracranial Hemorrhage, Seizures, And Spasticity	Focal-onset seizure, Abnormal CNS myelination, Seizure, Gliosis, Bilateral tonic-clonic seizure, ...	OMIM:620371
Coronary Arterial Fistula	Atrial septal defect, Cardiomegaly, Bacterial endocarditis, Patent foramen ovale, Aortic valve st...	ORPHA:2041
Familial Mediterranean Fever	Hepatomegaly, Elevated circulating C-reactive protein concentration, Leukocytosis, Nephrotic synd...	OMIM:249100
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy	Optic atrophy, Pigmentary retinopathy	ORPHA:436271
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome	Optic atrophy, Aganglionic megacolon, Spastic paraplegia, Cerebral cortical atrophy, Myopia, Blin...	ORPHA:847
Granulomatous Disease, Chronic, Autosomal Recessive, 5	Lymphadenopathy, Recurrent tonsillitis, Acute pancreatitis, Lymphadenitis, Nephrotic syndrome, He...	OMIM:618935
Ménétrier Disease	Hypoalbuminemia, Hypoproteinemia, Hypochromic microcytic anemia	ORPHA:2494
Oncogenic Osteomalacia	Hypocalcemia, Hyperphosphaturia, Hypophosphatemia, Renal phosphate wasting	ORPHA:352540
Histiocytoid Cardiomyopathy	Optic atrophy, Hepatomegaly, Corneal opacity, Congenital aphakia, Megalocornea, Renal cyst, Cardi...	ORPHA:137675
Fucosidosis	Hepatomegaly, Vacuolated lymphocytes, Glycopeptiduria, Splenomegaly, Cherry red spot of the macul...	OMIM:230000
Stromme Syndrome	Accessory spleen, Optic nerve hypoplasia, Microcornea, Hydronephrosis, Sclerocornea, Bilateral re...	OMIM:243605
Ichthyosis, Congenital, Autosomal Recessive 2	Paralysis	OMIM:242100
Combined Oxidative Phosphorylation Deficiency 15	Optic atrophy, Incoordination, Tremor, Ataxia, Unsteady gait, Reduced visual acuity, Abnormal pyr...	OMIM:614947
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7	Retinal dysplasia, Retinal detachment, Optic nerve hypoplasia, Elevated circulating creatine kina...	OMIM:614643
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay	Hypochromic microcytic anemia, B lymphocytopenia, Cardiomyopathy, Sideroblastic anemia, Nephrocal...	OMIM:616084
Acute Transverse Myelitis	Babinski sign, Impaired proprioception, Orthostatic hypotension, Paraplegia, Abnormality of extra...	ORPHA:139417
Arterial Calcification, Generalized, Of Infancy, 1	Cardiomegaly, Dilated cardiomyopathy, Hypophosphatemic rickets, Renal artery stenosis	OMIM:208000
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige	Pulmonic stenosis, Hypernatremia, Hypoalbuminemia, Multiple muscular ventricular septal defects	OMIM:615508
Dahlberg-Borer-Newcomer Syndrome	Renal insufficiency, Hypocalcemia, Mitral valve prolapse, Cataract, Nephropathy	ORPHA:1563
Q Fever	Myocarditis, Hepatomegaly, Anemia, Lymphadenopathy, Hematuria, Elevated circulating hepatic trans...	ORPHA:781
Neutral Lipid Storage Disease With Myopathy	Hypertriglyceridemia, Hepatomegaly, Chronic pancreatitis, Elevated circulating hepatic transamina...	OMIM:610717
Immunodeficiency 98 With Autoinflammation, X-Linked	Autoimmune hemolytic anemia, Hepatomegaly, Hemophagocytosis, Lymphadenopathy, B lymphocytopenia, ...	OMIM:301078
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 8	Increased mean corpuscular volume, Portal hypertension, Thrombocytopenia, Splenomegaly, Nodular r...	OMIM:620367
Bardet-Biedl Syndrome 20	Constriction of peripheral visual field, Hypermetropia, Hemeralopia, Papilledema, Male hypogonadi...	OMIM:619471
Polycythemia Vera	Increased red blood cell mass, Leukocytosis, Increased circulating hemoglobin concentration, Thro...	OMIM:263300
Congenital Disorder Of Deglycosylation 1	Gliosis, Seizure, Delayed myelination, Myoclonic seizure, Myoclonus, Delayed CNS myelination	OMIM:615273
Mitochondrial Myopathy-Cerebellar Ataxia-Pigmentary Retinopathy Syndrome	Optic disc pallor, Pigmentary retinopathy	ORPHA:502423
Aica-Ribosiduria Due To Atic Deficiency	Optic atrophy, Congenital blindness	OMIM:608688
Gastrointestinal Defects And Immunodeficiency Syndrome 2	Optic atrophy, Cerebellar atrophy, Intention tremor, Head titubation, Dystonia, Ataxia, Reduced v...	OMIM:619708
Gaucher Disease	Decreased HDL cholesterol concentration, Corneal opacity, Retinopathy, Leukopenia, Splenomegaly, ...	ORPHA:355
Ataxia-Oculomotor Apraxia 4	Hypoalbuminemia, Hypercholesterolemia, Elevated circulating alpha-fetoprotein concentration	OMIM:616267
Optic Nerve Hypoplasia, Bilateral	Optic nerve hypoplasia, Remnants of the hyaloid vascular system, Optic nerve aplasia, Reduced vis...	OMIM:165550
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation	Hepatomegaly, Aplasia of the thymus, B lymphocytopenia, Eosinophilia, Lymph node hypoplasia, Sple...	OMIM:602450
Renal Tubular Acidosis Iii	Periodic paralysis	OMIM:267200
Meckel Syndrome	Optic atrophy, Abnormal chorioretinal morphology, Situs inversus totalis, Ureteral duplication, M...	ORPHA:564
Vitamin D-Dependent Rickets, Type 2A	Hypocalcemic seizures, Hypophosphatemia	OMIM:277440
Myelofibrosis	Hepatomegaly, Hemophagocytosis, Myeloproliferative disorder, Splenomegaly, Extramedullary hematop...	OMIM:254450
Proteasome-Associated Autoinflammatory Syndrome 3	Hypertriglyceridemia, Hepatomegaly, Anemia, Lymphadenopathy, Elevated circulating hepatic transam...	OMIM:617591
Danon Disease	Myocardial necrosis, Elevated circulating creatine kinase concentration, Hypertrophic cardiomyopa...	OMIM:300257
Myopathy, Mitochondrial, And Ataxia	Pigmentary retinopathy	OMIM:617675
Aniridia 2	Optic atrophy, Aniridia, Cataract, Lens subluxation, Iris coloboma	OMIM:617141
Overhydrated Hereditary Stomatocytosis	Decreased mean corpuscular hemoglobin concentration, Intermittent jaundice, Reticulocytosis, Abno...	ORPHA:3203
Gamma-Heavy Chain Disease	Autoimmune hemolytic anemia, Hepatomegaly, Anemia, Lymphadenopathy, Abnormal lymphocyte morpholog...	ORPHA:100026
Microcephaly 20, Primary, Autosomal Recessive	Optic nerve hypoplasia, Blindness	OMIM:617914
Rajab Interstitial Lung Disease With Brain Calcifications 1	Decreased liver function, Cirrhosis, Anemia, Elevated circulating hepatic transaminase concentrat...	OMIM:613658
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia	Cholelithiasis, Chronic active hepatitis, Keratoconjunctivitis, Asplenia, Nephrocalcinosis, Catar...	OMIM:240300
Primary Triglyceride Deposit Cardiomyovasculopathy	Hepatomegaly, Pancreatitis, Vacuolated lymphocytes, Renal artery atherosclerosis, Cardiomyopathy,...	ORPHA:565612
Chediak-Higashi Syndrome	Jaundice, Neutropenia, Hemophagocytosis, Hepatomegaly, Anemia, Lymphadenopathy, Iris hypopigmenta...	OMIM:214500
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia	Splenomegaly, Intraalveolar phospholipid accumulation, Leukocytosis	OMIM:618042
Purine Nucleoside Phosphorylase Deficiency	Autoimmune hemolytic anemia, Elevated urinary inosine level, Hypouricemia, Neutropenia in presenc...	OMIM:613179
Tropical Endomyocardial Fibrosis	Left atrial enlargement, Endocardial fibrosis, Hepatomegaly, Right ventricular cardiomyopathy, Re...	ORPHA:75565
Chédiak-Higashi Syndrome	Decreased liver function, Hypertriglyceridemia, Elevated circulating hepatic transaminase concent...	ORPHA:167
Hemophagocytic Syndrome Associated With An Infection	Hypertriglyceridemia, Hepatomegaly, Anemia, Hemophagocytosis, Abnormal natural killer cell count,...	ORPHA:158048
Dysosteosclerosis	Optic atrophy, Facial paralysis, Blindness	OMIM:224300
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome	Aortic valve stenosis, Abnormal atrioventricular valve morphology, Cardiomegaly, Mitral valve pro...	ORPHA:324410
Chromosome 6Pter-P24 Deletion Syndrome	Pigmentary retinopathy	OMIM:612582
Hereditary Elliptocytosis	Jaundice, Cholelithiasis, Hyperbilirubinemia, Reticulocytosis, Poikilocytosis, Prolonged neonatal...	ORPHA:288
Isolated Right Ventricular Hypoplasia	Muscular ventricular septal defect, Patent foramen ovale, Right atrial enlargement, Cardiomegaly,...	ORPHA:439
Werner Syndrome	Premature graying of hair, Abnormality of retinal pigmentation, White forelock	ORPHA:902
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome	Limb ataxia, Hypertonia, Oculomotor apraxia, Broad-based gait, Azoospermia, Spastic paraplegia, P...	ORPHA:2072
Dpagt1-Cdg	Optic atrophy, Hypertonia, Akinesia, Global brain atrophy, Inability to walk, Tremor, Diffuse opt...	ORPHA:86309
Mitochondrial Complex Iv Deficiency, Nuclear Type 1	Optic atrophy, Pigmentary retinopathy	OMIM:220110
Ophthalmomandibulomelic Dysplasia	Blindness	ORPHA:2741
Non-24-Hour Sleep-Wake Syndrome	Blindness	ORPHA:73267
Paramyotonia Congenita Of Von Eulenburg	Periodic hypokalemic paresis	ORPHA:684
Complete Atrioventricular Septal Defect	Displacement of the papillary muscles, Hepatomegaly, Primum atrial septal defect, Right ventricul...	ORPHA:1329
Galloway-Mowat Syndrome 3	Glomerular sclerosis, Nephrotic syndrome, Diffuse mesangial sclerosis, Proteinuria, Hypoalbuminem...	OMIM:617729
Cranioectodermal Dysplasia 4	Nyctalopia, Rod-cone dystrophy, Visual impairment, Hypermetropia	OMIM:614378
Cohen Syndrome	Optic atrophy, Abnormality of skin pigmentation, Abnormality of retinal pigmentation, Chorioretin...	ORPHA:193
Combined Immunodeficiency Due To Partial Rag1 Deficiency	Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil antibodies, B lymphocytope...	ORPHA:231154
Chronic Myeloid Leukemia	Myeloproliferative disorder, Leukocytosis, Abnormal granulocyte morphology, Thrombocytopenia, Spl...	ORPHA:521
Chops Syndrome	Optic atrophy, Patent foramen ovale, Vesicoureteral reflux, Anomalous pulmonary venous return, Sp...	OMIM:616368
Developmental Malformations-Deafness-Dystonia Syndrome	Generalized dystonia, Blindness	ORPHA:79107
Amyloidosis Of Gingiva And Conjunctiva With Impaired Intellectual Development	Blindness	OMIM:204850
Combined Immunodeficiency Due To Crac Channel Dysfunction	Hepatomegaly, Lymphadenopathy, Hypoplasia of the iris, Thrombocytopenia, Splenomegaly, Hemolytic ...	ORPHA:169090
Musk, Inability To Smell	Blindness	OMIM:254150
Laryngeal Abductor Paralysis	Vocal cord paralysis	OMIM:150260
Felty Syndrome	Splenomegaly, Neutropenia	OMIM:134750
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome	Optic atrophy, Hepatomegaly, Anemia, Lymphadenopathy, Elevated circulating hepatic transaminase c...	OMIM:615688
Coloboma, Ocular, Autosomal Recessive	Retinal coloboma, Optic disc coloboma, Cataract, Lens subluxation, Iris coloboma	OMIM:216820
8P11.2 Deletion Syndrome	Retinal dystrophy, Hypoplasia of penis, Microcornea, Spherocytosis, Splenomegaly, Mitral valve pr...	ORPHA:251066
Thyrotoxic Periodic Paralysis	Respiratory paralysis, Tetraplegia, Tremor, Periodic hypokalemic paresis, Paralysis	ORPHA:79102
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2	Cardiomegaly, Pollakisuria, Elevated circulating creatine kinase concentration, Right ventricular...	ORPHA:268
Neurofibromatosis, Familial Spinal	Spinal neurofibroma, Symmetric spinal nerve root neurofibromas, Paraparesis, Plexiform neurofibro...	OMIM:162210
Multiple Myeloma	Acute kidney injury, Anemia, Lymphadenopathy, Abnormality of the bladder, Nephrotic syndrome, Hyp...	ORPHA:29073
Immunodeficiency 113 With Autoimmunity And Autoinflammation	Autoimmune hemolytic anemia, Hepatomegaly, Elevated circulating C-reactive protein concentration,...	OMIM:620565
Amyloidosis, Hereditary, Transthyretin-Related	Cardiomegaly, Urinary incontinence, Cardiomyopathy, Amyloid deposition in the vitreous humor	OMIM:105210
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13	Optic nerve dysplasia, Hydromyelia, Retinal dysplasia, Spasticity, Blindness	OMIM:615287
Fabry Disease	Abnormal circulating lipid concentration, Corneal opacity, Hyperlipidemia, Left ventricular hyper...	ORPHA:324
Congenital Syphilis	Optic atrophy, Myocarditis, Pancreatitis, Anemia, Lymphadenopathy, Chorioretinitis, Nephrotic syn...	ORPHA:499009
Coffin-Lowry Syndrome	Optic atrophy, Abnormality of retinal pigmentation	ORPHA:192
Mixed Connective Tissue Disease	Myocarditis, Hepatomegaly, Mediastinal lymphadenopathy, Keratoconjunctivitis sicca, Lymphadenopat...	ORPHA:809
Hyper-Igd Syndrome	Lymphadenopathy, Leukocytosis, Lymphadenitis, Neutrophilia, Hepatosplenomegaly, Splenomegaly, Ele...	OMIM:260920
Immunodeficiency 82 With Systemic Inflammation	Anemia, Lymphadenopathy, Elevated circulating C-reactive protein concentration, B lymphocytopenia...	OMIM:619381
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion	Typical absence seizure, Generalized myoclonic seizure, Gliosis, Seizure, Bilateral tonic-clonic ...	ORPHA:268261
Immunodeficiency With Hyper-Igm, Type 1	Cirrhosis, Hepatomegaly, Sclerosing cholangitis, Chronic hepatitis, Enlarged tonsils, Thrombocyto...	OMIM:308230
Proteasome-Associated Autoinflammatory Syndrome 4	Autoimmune hemolytic anemia, Splenomegaly, Hepatomegaly, Lymphadenopathy	OMIM:619183
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation	Autoimmune hemolytic anemia, Hepatomegaly, Lymphadenopathy, Splenomegaly, Lymphopenia, Autoimmune...	OMIM:616100
Arima Syndrome	Optic atrophy, Retinal dystrophy, Ataxia, Chorioretinal coloboma, Blindness	OMIM:243910
Fetal And Neonatal Alloimmune Thrombocytopenia	Cerebral palsy, Blindness	ORPHA:853
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1	Optic atrophy, Retinal dysplasia, Retinal detachment, Optic nerve hypoplasia, Retinal atrophy, My...	OMIM:236670
Chronic Visceral Acid Sphingomyelinase Deficiency	Decreased liver function, Hypertriglyceridemia, Cirrhosis, Hepatomegaly, Abnormal circulating lip...	ORPHA:77293
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency	Optic atrophy, Abnormality of retinal pigmentation, Retinal detachment	ORPHA:394
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2	Generalized myoclonic seizure, Neuronal loss in central nervous system, Gliosis, Cerebral cortica...	OMIM:300868
Andersen-Tawil Syndrome	Periodic paralysis, Periodic hyperkalemic paralysis, Periodic hypokalemic paresis	ORPHA:37553
Multiple Acyl-Coa Dehydrogenase Deficiency	Gliosis	OMIM:231680
Aicardi Syndrome	Optic atrophy, Retinal detachment, Abnormality of skin pigmentation, Abnormality of retinal pigme...	ORPHA:50
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome	Cerebral cortical atrophy, Visual field defect, Retinal degeneration, Rod-cone dystrophy, Nyctalopia	ORPHA:166035
Aorta Coarctation	Perimembranous ventricular septal defect, Cardiomegaly, Abnormal left ventricular outflow tract m...	ORPHA:1457
Thrombocytopenia, Anemia, And Myelofibrosis	Anisopoikilocytosis, Thrombocytopenia, Anemia, Splenomegaly	OMIM:617441
Cockayne Syndrome	Urinary incontinence, Elevated circulating hepatic transaminase concentration, Retinal atrophy, S...	ORPHA:191
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type	Cardiomegaly	OMIM:613320
Herpes Simplex Virus Stromal Keratitis	Reduced visual acuity, Blindness, Blurred vision	ORPHA:137599
Intellectual Developmental Disorder, Autosomal Dominant 54	Hyperkinetic movements, Athetoid cerebral palsy, Lower limb spasticity, Inability to walk, Vocal ...	OMIM:617799
Beck-Fahrner Syndrome	Cardiomegaly, Ventricular septal defect	OMIM:618798
Hereditary Motor And Sensory Neuropathy, Type Iic	Decreased distal sensory nerve action potential, Vocal cord paresis, Distal sensory impairment	OMIM:606071
Mitochondrial Trifunctional Protein Deficiency	Pigmentary retinopathy	ORPHA:746
Cherubism	Constriction of peripheral visual field, Marcus Gunn pupil, Optic neuropathy, Reduced visual acui...	OMIM:118400
Aniridia 1	Corneal neovascularization, Aniridia, Corneal erosion, Optic nerve hypoplasia, Cataract, Hypoplas...	OMIM:106210
Retinoblastoma	Retinoblastoma, Retinal calcification, Subretinal pigment epithelium hemorrhage, Heterochromia ir...	ORPHA:790
X-Linked Emery-Dreifuss Muscular Dystrophy	Tip-toe gait, Gait disturbance, Vocal cord paralysis, Waddling gait	ORPHA:98863
Autoimmune Hemolytic Anemia, Warm Type	Autoimmune hemolytic anemia, Jaundice, Chronic lymphatic leukemia, Splenomegaly, Abnormal urinary...	ORPHA:90033
Intellectual Developmental Disorder With Dysmorphic Facies And Ptosis	Seizure, Abnormal myelination	OMIM:617333
Emery-Dreifuss Muscular Dystrophy	Tip-toe gait, Gait disturbance, Vocal cord paralysis, Waddling gait	ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy	Tip-toe gait, Gait disturbance, Vocal cord paralysis, Waddling gait	ORPHA:98853
Congenital Analbuminemia	Hypoproteinemia, Hyperlipidemia, Hypoalbuminemia, Increased alpha-globulin, Hypercholesterolemia	ORPHA:86816
Tubulointerstitial Nephritis And Uveitis Syndrome	Renal tubular epithelial necrosis, Decreased glomerular filtration rate, Normochromic anemia, Cys...	ORPHA:91500
Lysinuric Protein Intolerance	Hepatomegaly, Pancreatitis, Hemophagocytosis, Anemia, Oroticaciduria, Intraalveolar phospholipid ...	OMIM:222700
Neutropenia, Severe Congenital, 4, Autosomal Recessive	Urachus fistula, Hepatomegaly, Anemia, Erythroid hypoplasia, Recurrent urinary tract infections, ...	OMIM:612541
Mitochondrial Complex Iii Deficiency, Nuclear Type 1	Cerebral atrophy, Gliosis, Seizure, Cerebellar atrophy, Delayed CNS myelination	OMIM:124000
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency	Pigmentary retinopathy	ORPHA:71212
Joubert Syndrome 5	Oculomotor apraxia, Retinal coloboma, Ataxia, Reduced visual acuity, Congenital blindness, Rod-co...	OMIM:610188
Osteopetrosis, Autosomal Recessive 7	Optic atrophy, Hepatomegaly, Anemia, Optic nerve compression, Hypocalcemic seizures, Splenomegaly	OMIM:612301
Triosephosphate Isomerase Deficiency	Normocytic anemia, Jaundice, Chronic hemolytic anemia, Normochromic anemia, Macrocytic anemia, Ch...	OMIM:615512
Hereditary Late-Onset Parkinson Disease	Cerebral cortical atrophy, Gliosis	ORPHA:411602
Aniridia-Intellectual Disability Syndrome	Cataract, Optic nerve hypoplasia, Ectopia lentis, Aniridia	ORPHA:1068
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z	Decreased distal sensory nerve action potential, Atrophy of the spinal cord, Abnormality of perip...	ORPHA:466768
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis	Neutrophilia, Splenomegaly, Elevated circulating C-reactive protein concentration, Hepatomegaly	OMIM:612852
Supranuclear Palsy, Progressive, 2	Neuronal loss in central nervous system, Gliosis, Granulovacuolar degeneration	OMIM:609454
Elliptocytosis 1	Elliptocytosis, Jaundice, Splenomegaly, Hemolytic anemia	OMIM:611804
Short Fifth Metacarpals-Insulin Resistance Syndrome	Spherocytosis, Splenomegaly	ORPHA:66518
Mucopolysaccharidosis Type 2	Optic atrophy, Hepatomegaly, Abnormal tricuspid valve morphology, Abnormal heart valve morphology...	ORPHA:580
Bohring-Opitz Syndrome	Optic atrophy, Annular pancreas, Cholelithiasis, Retinal atrophy, Cardiomegaly, Urinary retention...	ORPHA:97297
Hereditary Orotic Aciduria	Oroticaciduria, Anemia, Abnormality of the ureter, Orotic acid crystalluria, Splenomegaly, Aminoa...	ORPHA:30
Craniofaciofrontodigital Syndrome	Cardiomegaly, Abnormal heart valve morphology, Aortic valve stenosis, Pericardial effusion, Bicus...	ORPHA:363705
Cockayne Syndrome Type 1	Optic atrophy, Hypermelanotic macule, Absent brainstem auditory responses, Abnormality of periphe...	ORPHA:90321
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies	Retinal arteriolar tortuosity, Babinski sign, Hypermetropia, Spasticity, Cerebellar atrophy, Reti...	OMIM:175780
Congenital Microcoria	Photophobia, Hemeralopia, Axial myopia, Blurred vision, Visual impairment, Blindness, Nyctalopia	ORPHA:566
Porphyria, Congenital Erythropoietic	Jaundice, Hepatomegaly, Red urine, Cholelithiasis, Corneal scarring, Elevated circulating uroporp...	OMIM:263700
Alstrom Syndrome	Constriction of peripheral visual field, Visual loss, Photophobia, Pigmentary retinopathy, Blindn...	OMIM:203800
Gaucher Disease Type 3	Hepatomegaly, Anemia, Hematuria, Pancytopenia, Abnormal heart valve morphology, Aortic valve calc...	ORPHA:77261
Atelis Syndrome 2	Anemia, Remnants of the hyaloid vascular system, Supravalvar pulmonary stenosis, Pulmonic stenosi...	OMIM:620185
Blau Syndrome	Anemia, Lymphadenopathy, Nephropathy, Abnormal optic nerve morphology, Retinopathy, Pericarditis,...	ORPHA:90340
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 4A	Spastic tetraparesis, Cerebral palsy, Paraparesis, Dystonia, Spastic ataxia, Generalized dystonia	OMIM:620358
Chromosome 8Q21.11 Deletion Syndrome	Pigmentary retinopathy	OMIM:614230
Amoebic Keratitis	Abnormal anterior chamber morphology, Abnormal corneal epithelium morphology, Corneal ulceration,...	ORPHA:67043
Momo Syndrome	Blindness, Retinal coloboma	OMIM:157980
Lethal Congenital Contracture Syndrome 10	Cardiomegaly, Overriding aorta, Ventricular septal defect, Hypoplasia of the thymus	OMIM:617022
Ramon Syndrome	Optic disc pallor, Pigmentary retinopathy	OMIM:266270
Ophthalmomandibulomelic Dysplasia	Blindness	OMIM:164900
Familial Aortic Dissection	Cardiomegaly	ORPHA:229
Saul-Wilson Syndrome	Syringomyelia, Nyctalopia, Spinal cord compression	OMIM:618150
Behçet Disease	Photophobia, Optic neuritis, Gait disturbance, Retinopathy, Hemiparesis, Ataxia, Orchitis, Abnorm...	ORPHA:117
Autoimmune Polyendocrine Syndrome, Type Ii	Cirrhosis, Iron deficiency anemia, Band keratopathy, Keratoconjunctivitis, Asplenia, Chronic hepa...	OMIM:269200
Juvenile Polyposis Of Infancy	Anemia, Abnormal heart morphology, Hypoalbuminemia, Atrial septal defect, Refractory anemia	ORPHA:79076
Raine Syndrome	Hydronephrosis, Hydroureter, Hypophosphatemia	OMIM:259775
Opsismodysplasia	Hypophosphatemia, Renal phosphate wasting	OMIM:258480
Leprosy	Abnormal seventh cranial physiology, Steppage gait, Enlarged peripheral nerve, Impaired temperatu...	ORPHA:548
Methylmalonic Acidemia With Homocystinuria, Type Cblc	Optic atrophy, Macular coloboma, Abnormality of macular pigmentation, Atrophy of the spinal cord,...	ORPHA:79282
Brucellosis	Myocarditis, Liver abscess, Anemia, Hepatomegaly, Lymphadenopathy, Abnormal aortic valve morpholo...	ORPHA:1304
Cerebrooculonasal Syndrome	Blindness	ORPHA:66625
Mucopolysaccharidosis Type 2, Severe Form	Optic atrophy, Abnormal tricuspid valve morphology, Abnormal pulmonary valve morphology, Abnormal...	ORPHA:217085
Bardet-Biedl Syndrome	Color vision defect, Aganglionic megacolon, Retinal dystrophy, Photophobia, Hypoplasia of the ova...	ORPHA:110
Leiomyomatosis, Diffuse, With Alport Syndrome	Lenticonus, Hematuria, Renal insufficiency, Nephropathy, Microscopic hematuria, Thickened glomeru...	OMIM:308940
Anterior Segment Dysgenesis 7	Ocular anterior segment dysgenesis, Microcornea, Corneal opacity, Sclerocornea, Cataract, Buphtha...	OMIM:269400
Mitochondrial Complex Iv Deficiency, Nuclear Type 12	Elevated circulating creatine kinase concentration, Hypoalbuminemia, Aminoaciduria	OMIM:619055
Mucopolysaccharidosis Type 2, Attenuated Form	Optic atrophy, Abnormal tricuspid valve morphology, Abnormal pulmonary valve morphology, Abnormal...	ORPHA:217093
Hermansky-Pudlak Syndrome 1	Photophobia, Severely reduced visual acuity, Blindness, Ocular albinism	OMIM:203300
Chronic Granulomatous Disease	Liver abscess, Mediastinal lymphadenopathy, Hepatomegaly, Splenomegaly, Abnormality of neutrophils	ORPHA:379
Reynolds Syndrome	Calcinosis, Jaundice, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Hype...	OMIM:613471
Acute Panmyelosis With Myelofibrosis	Acute myeloid leukemia, Pancytopenia, Lymphocytosis, Bone marrow hypocellularity, Splenomegaly, A...	ORPHA:86843
Familial Tumoral Calcinosis	Hepatomegaly, Nephrocalcinosis, Splenomegaly	ORPHA:53715
Trisomy 18	Abnormality of retinal pigmentation, Spina bifida	ORPHA:3380
Williams Syndrome	Abnormal circulating lipid concentration, Hypoplasia of penis, Corneal opacity, Pulmonic stenosis...	ORPHA:904
Lipodystrophy, Congenital Generalized, Type 2	Hypertriglyceridemia, Cirrhosis, Hepatomegaly, Ventricular septal hypertrophy, Elevated circulati...	OMIM:269700
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1	Unilateral vocal cord paresis, Spinal dysraphism, Tethered cord	OMIM:617660
Generalized Arterial Calcification Of Infancy	Hypophosphatemic rickets, Angioid streaks of the fundus, Choroidal neovascularization, Ventricula...	ORPHA:51608
Andersen Cardiodysrhythmic Periodic Paralysis	Periodic paralysis, Periodic hypokalemic paresis	OMIM:170390
Bilateral Perisylvian Polymicrogyria	Limb hypertonia, Oromotor apraxia, Lower limb spasticity, Spasticity, Facial diplegia, Paraparesi...	ORPHA:98889
Familial Idiopathic Dilatation Of The Right Atrium	Hepatomegaly, Atrial septal dilatation, Abnormality of the hepatic vasculature, Right atrial enla...	ORPHA:1677
Phoar2-Enteropathy Syndrome	Hypoalbuminemia	OMIM:614441
Developmental And Epileptic Encephalopathy 95	Cardiomegaly, Hepatomegaly	OMIM:618143
Webb-Dattani Syndrome	Spasticity, Blindness	OMIM:615926
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis	Atrophy/Degeneration involving the spinal cord, Retinal pigment epithelial mottling	OMIM:607459
Anaplastic Thyroid Carcinoma	Vocal cord paralysis	ORPHA:142
Cartilage-Hair Hypoplasia	Spinal dysraphism, Aganglionic megacolon, Abnormality of retinal pigmentation	ORPHA:175
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1	Blindness	OMIM:603387
Khan-Khan-Katsanis Syndrome	Tethered cord, Pigmentary retinopathy	OMIM:618460
Momo Syndrome	Chorioretinal coloboma, Blindness	ORPHA:2563
Proteasome-Associated Autoinflammatory Syndrome 1	Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hepatomegaly, Elevated circulating...	OMIM:256040
Peroxisome Biogenesis Disorder 1A (Zellweger)	Optic disc pallor, Pigmentary retinopathy, Brushfield spots	OMIM:214100
Oculo-Palato-Cerebral Syndrome	Retinal detachment, Cataract, Remnants of the hyaloid vascular system, Leukocoria	ORPHA:2714
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects	Bicuspid aortic valve, Developmental glaucoma, Patent foramen ovale, Mitral valve prolapse, Left ...	OMIM:245600
Norrie Disease	Optic atrophy, Abnormal chorioretinal morphology, Hypertonia, Abnormal vitreous humor morphology,...	ORPHA:649
Aica-Ribosiduria	Congenital blindness	ORPHA:250977
Naxos Disease	Right ventricular cardiomyopathy, Abnormal morphology of right ventricular trabeculae, Abnormal h...	OMIM:601214
Proximal Renal Tubular Acidosis	Low-molecular-weight proteinuria, Bicarbonaturia, Global proximal tubulopathy, Hypokalemia, Hyper...	ORPHA:47159
Juvenile Polyposis Syndrome	Hypoalbuminemia, Anemia, Hypokalemia	OMIM:174900
Cantú Syndrome	Cardiomegaly, Abnormal heart valve morphology, Hypertrophic cardiomyopathy	ORPHA:1517
Glycogen Storage Disease Due To Acid Maltase Deficiency	Hepatomegaly, Elevated circulating creatine kinase concentration, Hypertrophic cardiomyopathy, El...	ORPHA:365
Lipodystrophy, Congenital Generalized, Type 1	Hypertriglyceridemia, Cirrhosis, Hepatomegaly, Elevated circulating hepatic transaminase concentr...	OMIM:608594
Microphthalmia With Linear Skin Defects Syndrome	Hypopigmented skin patches, Abnormal vitreous humor morphology, Retinal dysplasia, Retinal dystro...	ORPHA:2556
Mitochondrial Dna-Associated Leigh Syndrome	Optic atrophy, Rod-cone dystrophy, Pigmentary retinopathy	ORPHA:255210
Fuchs Endothelial Corneal Dystrophy	Visual loss, Reduced visual acuity, Nyctalopia	ORPHA:98974
Retinitis Pigmentosa With Or Without Skeletal Anomalies	Peripheral visual field loss, Retinal degeneration, Rod-cone dystrophy, Hypoautofluorescent retin...	OMIM:250410
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form	Hypoalbuminemia, Corneal opacity, Anemia	ORPHA:79396
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome	Cardiomegaly, Abnormal thymus morphology	ORPHA:2463
Anterior Segment Dysgenesis 2	Aniridia, Microcornea, Corneal opacity, Congenital aphakia, Anterior segment of eye aplasia, Scle...	OMIM:610256
Fibrous Dysplasia Of Bone	Hypercalcemia, Hypophosphatemia	ORPHA:249
Mitochondrial Complex Iv Deficiency, Nuclear Type 5	Gliosis, Generalized-onset seizure, Seizure, CNS demyelination, Peripheral demyelination	OMIM:220111
Ectodermal Dysplasia-Blindness Syndrome	Abnormality of vision, Blindness	ORPHA:1806
Congenital Lipomatous Overgrowth, Vascular Malformations, And Epidermal Nevi	Nephroblastoma, Renal hypoplasia, Splenomegaly	OMIM:612918
Rodrigues Blindness	Blindness	OMIM:268320
Diets-Jongmans Syndrome	Seizure, Gliosis	OMIM:618846
Granulomatous Disease, Chronic, Autosomal Recessive, 1	Liver abscess, Hepatomegaly, Lymphadenopathy, Lymphadenitis, Splenomegaly, Impaired oxidative bur...	OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2	Liver abscess, Hepatomegaly, Lymphadenopathy, Lymphadenitis, Splenomegaly, Impaired oxidative bur...	OMIM:233710
Farber Disease	Brain atrophy, Spasticity, Macular degeneration, Paraparesis, Cherry red spot of the macula, Myoc...	ORPHA:333
17Q11 Microdeletion Syndrome	Dural ectasia, Multiple mucosal neuromas, Progressive visual loss, Pheochromocytoma, Retinal vasc...	ORPHA:97685
Aicardi-Goutières Syndrome	Developmental glaucoma, Elevated circulating hepatic transaminase concentration, Chronic lymphati...	ORPHA:51
Double Outlet Left Ventricle	Pulmonary valve atresia, Double outlet left ventricle, Tricuspid atresia, Bicuspid pulmonary valv...	ORPHA:3427
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment	Cardiomegaly, Partial atrioventricular canal defect, Secundum atrial septal defect, Bicuspid aort...	OMIM:620066
Neurodegeneration With Brain Iron Accumulation 1	Optic atrophy, Retinal degeneration, Pigmentary retinopathy, Hyperpigmentation of the skin	OMIM:234200
Lethal Acantholytic Erosive Disorder	Cardiomegaly, Cardiomyopathy	ORPHA:158687
Granulomatous Disease, Chronic, Autosomal Recessive, 4	Liver abscess, Hepatomegaly, Lymphadenopathy, Lymphadenitis, Splenomegaly, Impaired oxidative bur...	OMIM:233690
Joubert Syndrome 21	Optic atrophy, Megalopapilla, Renal cyst, Retinopathy, Hyperechogenic kidneys, Splenomegaly	OMIM:615636
Common Variable Immunodeficiency	Elevated circulating hepatic transaminase concentration, Lymphadenopathy, Splenomegaly, Lymphopen...	ORPHA:1572
Kikuchi-Fujimoto Disease	Myocarditis, Hepatomegaly, Anemia, Lymphadenopathy, Abnormal lymph node morphology, Elevated circ...	ORPHA:50918
Oculopalatocerebral Syndrome	Remnants of the hyaloid vascular system, Leukocoria	OMIM:257910
Microphthalmia, Syndromic 2	Hypospadias, Dextrocardia, Retinal detachment, Microcornea, Remnants of the hyaloid vascular syst...	OMIM:300166
Hypercarotenemia And Vitamin A Deficiency, Autosomal Recessive	Nyctalopia	OMIM:277350
Spondylocarpotarsal Synostosis Syndrome	Abnormality of retinal pigmentation	OMIM:272460
Melas	Optic atrophy, Vitiligo, Pigmentary retinopathy	ORPHA:550
Nijmegen Breakage Syndrome	Cafe-au-lait spot, Retinal pigment epithelial mottling, Progressive vitiligo	OMIM:251260
Aphonia-Deafness-Retinal Dystrophy-Bifid Halluces-Intellectual Disability Syndrome	Optic atrophy, Unilateral vocal cord paralysis, Retinal dystrophy	ORPHA:324540
Cockayne Syndrome A	Optic atrophy, Decreased nerve conduction velocity, Retinal atrophy, Abnormal auditory evoked pot...	OMIM:216400
Cutis Laxa, Autosomal Recessive, Type Iid	Seizure, Gliosis	OMIM:617403
Congenital Erythropoietic Porphyria	Increased erythrocyte protoporphyrin concentration, Reduced haptoglobin level, Increased urinary ...	ORPHA:79277
Axenfeld-Rieger Syndrome, Type 2	Blindness	OMIM:601499
Autosomal Recessive Hypophosphatemic Rickets	Hypophosphatemic rickets, Renal phosphate wasting, Hyperphosphaturia, Abnormality of renal excret...	ORPHA:289176
Dermatoosteolysis, Kirghizian Type	Nyctalopia	ORPHA:1657
Methylmalonic Aciduria And Homocystinuria, Cblc Type	Pigmentary retinopathy	OMIM:277400
Mccune-Albright Syndrome	Blindness	OMIM:174800
Mucopolysaccharidosis, Type Iiid	Difficulty walking, Cerebellar atrophy, Visual impairment, Nyctalopia	OMIM:252940
Gitelman Syndrome	Paralysis, Blurred vision, Paresthesia	ORPHA:358
Sympathetic Ophthalmia	Retinal detachment, Vitreous floaters, Depigmented fundus, Retinal hemorrhage, Anterior chamber c...	ORPHA:79098
Paternal Uniparental Disomy Of Chromosome 6	Cardiomegaly, Hepatomegaly, Ventricular septal defect	ORPHA:96191
Pmm2-Cdg	Abnormal renal tubule morphology, Abnormal liver parenchyma morphology, Elevated circulating hepa...	ORPHA:79318
Linear Skin Defects With Multiple Congenital Anomalies 1	Pigmentary retinopathy	OMIM:309801
Alpha-N-Acetylgalactosaminidase Deficiency Type 2	Cardiomegaly, Opacification of the corneal stroma	ORPHA:79280
Distal Renal Tubular Acidosis	Paralysis	ORPHA:18
Truncus Arteriosus	Transposition of the great arteries, Abnormal heart valve morphology, Truncus arteriosus, Hypopla...	ORPHA:3384
Neurofibromatosis Type 1	Hypopigmented skin patches, Inguinal freckling, Multiple cafe-au-lait spots, Heterochromia iridis...	ORPHA:636
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies	Optic atrophy, Cerebellar cortical atrophy, Retinal dystrophy, Hypoplasia of the ovary, Optic ner...	OMIM:619321
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome	Blindness, Visual loss, Amblyopia, Hypogonadism	ORPHA:2250
Sarcoidosis, Susceptibility To, 1	Hepatomegaly, Mediastinal lymphadenopathy, Pancytopenia, Hypercalciuria, Chorioretinitis, Optic n...	OMIM:181000
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Dominant	Photophobia, Blindness	OMIM:148210
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome	Decreased glomerular filtration rate, Focal segmental glomerulosclerosis, Nephrotic syndrome, Ren...	OMIM:614748
Congenital Tracheomalacia	Abnormal heart morphology, Tetralogy of Fallot, Partial anomalous pulmonary venous return, Cardio...	ORPHA:95430
Van Esch-O'Driscoll Syndrome	Cerebral atrophy, Spina bifida occulta, Spasticity, Cerebellar atrophy, Unilateral vocal cord par...	OMIM:301030
X-Linked Hypophosphatemia	Hypophosphatemia, Renal phosphate wasting, Hypocalciuria	ORPHA:89936
Mucoepithelial Dysplasia, Hereditary	Photophobia, Blindness	OMIM:158310
Digeorge Syndrome	Anemia, Unilateral renal agenesis, Cholelithiasis, Renal insufficiency, Hypocalcemia, Truncus art...	OMIM:188400
Gabriele-De Vries Syndrome	Delayed myelination, Gliosis	ORPHA:506358
Stickler Syndrome	Abnormal vitreous humor morphology, Retinal detachment, Lattice retinal degeneration, Hemiplegia/...	ORPHA:828
Absence Of The Pulmonary Artery	Patent foramen ovale, Truncus arteriosus, Abnormal heart morphology, Tetralogy of Fallot, Cardiom...	ORPHA:980
Familial Thoracic Aortic Aneurysm And Aortic Dissection	Abnormality iris morphology, Bicuspid aortic valve, Cardiomegaly	ORPHA:91387
Paget Disease Of Bone 2, Early-Onset	Tetraparesis, Paraparesis	OMIM:602080
Cockayne Syndrome B	Optic atrophy, Decreased nerve conduction velocity, Abnormal auditory evoked potentials, Abnormal...	OMIM:133540
Interatrial Communication	Atrial septal defect, Sinus venosus atrial septal defect, Primum atrial septal defect, Secundum a...	ORPHA:1478
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1	Retinal detachment, Myopia, Blindness	OMIM:225400
Neuroocular Syndrome	Microcornea, Stellate iris, Patent foramen ovale, Remnants of the hyaloid vascular system, Hypopl...	OMIM:619539
Weill-Marchesani Syndrome 1	High myopia, Blindness	OMIM:277600
Osteoporosis-Pseudoglioma Syndrome	Retinal calcification, Vitreoretinopathy, Exudative retinopathy, Congenital blindness, Blindness	OMIM:259770
Congenital Total Pulmonary Venous Return Anomaly	Infracardiac total anomalous pulmonary venous connection, Atrial situs ambiguous, Transposition o...	ORPHA:99125
Johanson-Blizzard Syndrome	Conjunctival icterus, Ascites, Urethrovaginal fistula, Splenomegaly, Intrahepatic cholestasis, Hy...	OMIM:243800
Renpenning Syndrome 1	Cerebral atrophy, Spasticity, Blindness, Hypermetropia	OMIM:309500
Yunis-Varon Syndrome	Hypospadias, Cardiomegaly, Renal artery stenosis, Cardiomyopathy, Renovascular hypertension, Scle...	ORPHA:3472
Intellectual Developmental Disorder, X-Linked, Syndromic 34	Patent foramen ovale, Ventricular septal defect, Left ventricular noncompaction cardiomyopathy, R...	OMIM:300967
Igg4-Related Dacryoadenitis And Sialadenitis	Blindness, Optic nerve compression, Abnormal optic nerve morphology	ORPHA:79078
Plasminogen Deficiency, Type I	Blindness	OMIM:217090
Monosomy 18Q	Astrocytoma, Seizure, Abnormal myelination	ORPHA:1600
Senior-Loken Syndrome 3	Congenital blindness, Visual loss	OMIM:606995
Schinzel-Giedion Syndrome	Hypertonia, Aganglionic megacolon, Spasticity, Vocal cord paralysis, Cerebral cortical atrophy, S...	ORPHA:798
Weill-Marchesani Syndrome 2	High myopia, Blindness	OMIM:608328
Cogan Syndrome	Blindness, Reduced visual acuity, Photophobia	ORPHA:1467
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome	Paraplegia, Hemiparesis, Paraparesis	ORPHA:79124
Oculodentodigital Dysplasia	Tetraparesis, Spasticity, Ataxia, Paraparesis	OMIM:164200
Atypical Werner Syndrome	Premature graying of hair, White forelock, Abnormality of retinal pigmentation, Patchy hypo- and ...	ORPHA:79474
X-Linked Intellectual Disability With Isolated Growth Hormone Deficiency	Abnormal myelination	ORPHA:67045
Alström Syndrome	Hypertriglyceridemia, Urinary incontinence, Elevated circulating hepatic transaminase concentrati...	ORPHA:64
Igg4-Related Thyroid Disease	Vocal cord paralysis	ORPHA:64744
Corneodermatoosseous Syndrome	Hemeralopia, Photophobia, Nyctalopia	ORPHA:3194
Lipodystrophy, Familial Partial, Type 7	Orthostatic hypotension, Pigmentary retinopathy	OMIM:606721
Menke-Hennekam Syndrome 1	Tethered cord, Blindness, Hypermetropia	OMIM:618332
Hepatoerythropoietic Porphyria	Blindness, Paresthesia	ORPHA:95159
Microphthalmia, Syndromic 6	Retinal dystrophy, Female hypogonadism, Cerebral cortical atrophy, Myopia, Blindness	OMIM:607932
Acrofacial Dysostosis, Cincinnati Type	Syringomyelia, Lower limb spasticity, Vocal cord paralysis, Abnormality of coordination, Myoclonu...	OMIM:616462
Codas Syndrome	Vocal cord paresis	OMIM:600373
Holoprosencephaly 2	Single ventricle, Chorioretinal coloboma, Remnants of the hyaloid vascular system, Iris coloboma	OMIM:157170
Degcags Syndrome	Chordee, Vocal cord paralysis	OMIM:619488
Fraser Syndrome 1	Blindness	OMIM:219000
Sarcoidosis	Facial palsy, Blindness	ORPHA:797
Esophageal Atresia	Hypertonia, Vocal cord paresis	ORPHA:1199
Feingold Syndrome 1	Vocal cord paralysis	OMIM:164280
Acromelic Frontonasal Dysostosis	Optic nerve hypoplasia, Remnants of the hyaloid vascular system	OMIM:603671
Wiedemann-Rautenstrauch Syndrome	Optic atrophy, Optic disc hypoplasia, Pigmentary retinopathy	ORPHA:3455
Microphthalmia, Syndromic 1	Aganglionic megacolon, Chorioretinal coloboma, Optic disc coloboma, Blindness, Spastic diplegia	OMIM:309800
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum	Photophobia, Visual loss, Blindness	ORPHA:95455
Williams-Beuren Syndrome	Gait imbalance, Incoordination, Vocal cord paralysis, Poor coordination, Retinal arteriolar tortu...	OMIM:194050
Fraser Syndrome	Blindness	ORPHA:2052
Singleton-Merten Syndrome 1	Mitral valve calcification, Aortic valve stenosis, Aortic valve calcification, Cardiomegaly, Subv...	OMIM:182250
Orofaciodigital Syndrome Type 14	Abnormal myelination	ORPHA:434179

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.

Phenotype	Allele	Zygosity	Sex	Life Stage
Eye - MPATH pathological process term developmental dysplasia	Cln8^em1(IMPC)Mbp	HOM		Early adult
Spleen - MPATH pathological entity term steatosis	Cln8^em1(IMPC)Mbp	HOM		Early adult

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 Cln8.

No publications found that use IMPC mice or data for Cln8.

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MGI Allele	Allele Type	Produced
Cln8^{tm1a(EUCOMM)Hmgu}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors, ES Cells
Cln8^{tm1e(EUCOMM)Hmgu}	Targeted, non-conditional allele	ES Cells
Cln8^{tm1(KOMP)Vlcg}	Reporter-tagged deletion allele (with selection cassette)	ES Cells
Cln8^em1(IMPC)Mbp	Intra-exon deletion	Mice, Tissue

Sequence

Guides

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

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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Gene: Cln8 MGI:1349447

Gene Summary

IMPC Data Collections

IMPC Phenotype Summary

Phenotypes

lacZ Expression

Associated Images

X-ray

X-ray

Human diseases caused by Cln8 mutations

Histopathology

IMPC related publications

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Access Data Release 21.0 Data