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Gene: Mertk MGI:96965

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Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
MER proto-oncogene tyrosine kinase
Synonyms:
Mer,  Nyk,  Eyk,  Tyro 12,  nmf12

Order Alleles

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

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

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by Mertk mutations

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

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

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

Disease Similarity of
phenotypes		 Matching phenotypes Source
Retinitis Pigmentosa 38
Optic disc pallor, Constriction of peripheral visual field, Macular atrophy, Peripheral retinal a... OMIM:613862
Retinitis Pigmentosa
Abnormality of retinal pigmentation, Hypoplasia of penis, Blindness, Abnormal retinal vascular mo... ORPHA:791

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

Disease Similarity of
phenotypes		 Matching phenotypes Source
Retinal Dysplasia, Primary
Retinal dysplasia, Falciform retinal fold OMIM:312550
Retinitis Pigmentosa 24
Cone dystrophy, Rod-cone dystrophy OMIM:300155
Cone-Rod Dystrophy, X-Linked, 2
Cone/cone-rod dystrophy, Cone dystrophy OMIM:300085
Retinitis Pigmentosa, Late-Adult Onset
Rod-cone dystrophy OMIM:268025
Retinitis Pigmentosa, Y-Linked
Rod-cone dystrophy OMIM:400004
Retinitis Pigmentosa 55
Rod-cone dystrophy OMIM:613575
Retinitis Pigmentosa 67
Rod-cone dystrophy OMIM:615565
Platelet Responsiveness To Adrenaline, Depressed
Impaired epinephrine-induced platelet aggregation OMIM:173580
Athrombia, Essential
Impaired platelet aggregation, Prolonged bleeding time, Impaired platelet adhesion OMIM:209050
Thrombocytopenia 7
Reduced platelet alpha granules, Thrombocytopenia, Impaired ADP-induced platelet aggregation, Red... OMIM:619130
Macrothrombocytopenia, Isolated, 1, Autosomal Dominant
Impaired platelet aggregation, Macrothrombocytopenia OMIM:613112
Choroidal Dystrophy, Central Areolar, 1
Pigmentary retinopathy, Chorioretinal atrophy, Choriocapillaris atrophy OMIM:215500
Stargardt Disease 1
Macular degeneration, Retinitis pigmentosa inversa, Bull's eye maculopathy OMIM:248200
Thrombocythemia 1
Impaired collagen-induced platelet aggregation, Thrombocytosis, Impaired ADP-induced platelet agg... OMIM:187950
Retinal Dystrophy, Reticular Pigmentary, Of Posterior Pole
Drusen, Reticular pigmentary degeneration, Retinal dystrophy OMIM:267800
Macular Degeneration, Age-Related, 13
Drusen, Macular degeneration, Choroidal neovascularization, Macular scar OMIM:615439
Platelet Signal Processing Defect
Impaired collagen-induced platelet aggregation, Impaired ADP-induced platelet aggregation, Thromb... OMIM:173590
Retinitis Pigmentosa 48
Macular degeneration, Rod-cone dystrophy OMIM:613827
Retinitis Pigmentosa 36
Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Rod-cone dystro... OMIM:610599
Doyne Honeycomb Retinal Dystrophy
Reticular pigmentary degeneration, Retinal dystrophy OMIM:126600
Cone-Rod Dystrophy 7
Cone/cone-rod dystrophy, Bull's eye maculopathy, Macular atrophy OMIM:603649
Retinal Degeneration And Epilepsy
Retinal degeneration OMIM:267740
Bleeding Disorder, Platelet-Type, 24
Increased mean platelet volume, Thrombocytopenia, Impaired ADP-induced platelet aggregation, Plat... OMIM:619271
Night Blindness, Congenital Stationary, Type 1D
Congenital stationary night blindness, Pigmentary retinopathy, Macular atrophy, Attenuation of re... OMIM:613830
Bleeding Disorder, Platelet-Type, 22
Impaired platelet aggregation OMIM:618462
Macular Dystrophy, Patterned, 3
Rod-cone dystrophy, Choroidal neovascularization, Macular atrophy OMIM:617111
Macular Dystrophy, Retinal, 2
Macular dystrophy, Perifoveal ring of hyperautofluorescence, Granular macular appearance, Retinal... OMIM:608051
Sorsby Pseudoinflammatory Fundus Dystrophy
Blindness, Large central visual field defect, Retinal atrophy, Retinal pigment epithelial atrophy... ORPHA:59181
Central Areolar Choroidal Dystrophy
Macular atrophy, Foveal photoreceptor outer segment loss on macular OCT, Drusen, Visual loss, Nyc... ORPHA:75377
Hyperreflexia
Abnormality of retinal pigmentation OMIM:145290
Macular Degeneration, Early-Onset
Macular degeneration, Choroidal neovascularization OMIM:616118
Macular Dystrophy, Retinal, 1, North Carolina Type
Drusen, Macular dystrophy, Abnormality of macular pigmentation, Peripheral retinal atrophy OMIM:136550
Retinitis Pigmentosa 42
Reduced visual acuity, Perifoveal ring of hyperautofluorescence, Peripapillary atrophy, Rod-cone ... OMIM:612943
Persistent Placoid Maculopathy
Hypoplasia of the fovea, Metamorphopsia, Choroidal neovascularization, Amblyopia, Scintillating s... ORPHA:97341
Atrophia Maculosa Varioliformis Cutis, Familial
Macular atrophy OMIM:601341
Leber Congenital Amaurosis 13
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal dystrophy, Attenuation of ret... OMIM:612712
Hyperleucine-Isoleucinemia
Retinal degeneration OMIM:238340
Leber Congenital Amaurosis 19
Optic disc pallor, Retinal degeneration, Attenuation of retinal blood vessels OMIM:618513
Stargardt Disease 3
Macular dystrophy, Macular atrophy, Macular flecks OMIM:600110
Glanzmann Thrombasthenia 2
Prolonged bleeding time, Decreased platelet glycoprotein IIb-IIIa, Impaired ADP-induced platelet ... OMIM:619267
Macular Degeneration, Age-Related, 11
Macular degeneration OMIM:611953
Macular Degeneration, Age-Related, 4
Macular degeneration OMIM:610698
Macular Degeneration, Age-Related, 7
Macular degeneration OMIM:610149
Macular Degeneration, Age-Related, 2
Macular degeneration OMIM:153800
Macular Degeneration, Age-Related, 6
Macular degeneration OMIM:613757
Macular Degeneration, Age-Related, 15
Macular degeneration OMIM:615591
Stargardt Disease 4
Macular degeneration, Retinal flecks OMIM:603786
Grouped Pigmentation Of The Retina
Abnormality of retinal pigmentation OMIM:233800
Retinitis Pigmentosa Inversa With Deafness
Rod-cone dystrophy, Blindness, Retinitis pigmentosa inversa, External genital hypoplasia OMIM:268010
Choroidal Dystrophy, Central Areolar, 3
Drusen, Chorioretinal atrophy OMIM:613144
X-Linked Retinal Dysplasia
Abnormal retinal vascular morphology, Abnormality of retinal pigmentation, Retinal dysplasia ORPHA:1852
Choroideremia
Bone spicule pigmentation of the retina, Constriction of peripheral visual field, Chorioretinal d... OMIM:303100
Ceroid Lipofuscinosis, Neuronal, 6A
Increased neuronal autofluorescent lipopigment, Retinal degeneration OMIM:601780
Late-Onset Retinal Degeneration
Sub-RPE deposits, Choroidal neovascularization, Chorioretinal degeneration, Retinopathy, Retinal ... OMIM:605670
Macular Degeneration, Atrophic, X-Linked
Macular degeneration OMIM:300834
Retinopathy, Pericentral Pigmentary, Dominant
Bone spicule pigmentation of the retina, Blindness, Retinal atrophy, Retinal dystrophy, Nyctalopi... OMIM:180210
Liberfarb Syndrome
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal degeneration, Retinal pigment... OMIM:618889
Macular Dystrophy, Vitelliform, 2
Macular dystrophy, Cystoid macular degeneration, Subretinal fluid OMIM:153700
Exudative Vitreoretinopathy 7
Retinal detachment, Exudative vitreoretinopathy, Retinal hole, Retinal fold, Retinal degeneration OMIM:617572
Bietti Crystalline Dystrophy
Blindness, Constriction of peripheral visual field, Large central visual field defect, Retinal pi... ORPHA:41751
Retinitis Pigmentosa 27
Blindness, Constriction of peripheral visual field, Bone spicule pigmentation of the retina, Macu... OMIM:613750
Retinitis Pigmentosa 31
Rod-cone dystrophy, Retinal pigment epithelial atrophy, Attenuation of retinal blood vessels OMIM:609923
Cleft Lip-Retinopathy Syndrome
Abnormality of retinal pigmentation, Retinopathy ORPHA:1995
Retinitis Pigmentosa 11
Optic disc pallor, Blindness, Constriction of peripheral visual field, Bone spicule pigmentation ... OMIM:600138
Macular Dystrophy, Patterned, 2
Drusen, Pattern dystrophy of the retina, Reduced visual acuity, Foveal hyperpigmentation OMIM:608970
Optic Atrophy 9
Optic disc pallor, Red-green dyschromatopsia, Optic atrophy, Reduced visual acuity, Paracentral s... OMIM:616289
Macular Dystrophy, Retinal, 3
Macular drusen, Retinal pigment epithelial atrophy OMIM:608850
Macular Dystrophy, Vitelliform, 5
Moderately reduced visual acuity, Central scotoma, Reduced visual acuity, Vitelliform-like macula... OMIM:616152
Autoimmune Disease
Autoimmune antibody positivity, Autoimmunity OMIM:109100
Retinoschisis 1, X-Linked, Juvenile
Retinal detachment, Retinal atrophy, Retinal pigment epithelial atrophy, Mizuo phenomenon, Macula... OMIM:312700
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies
Retinal degeneration OMIM:251700
Retinal Cone Dystrophy 1
Cone/cone-rod dystrophy, Bull's eye maculopathy, Retinal degeneration OMIM:180020
Retinitis Pigmentosa 30
Bone spicule pigmentation of the retina, Nyctalopia, Chorioretinal atrophy, Optic atrophy, Rod-co... OMIM:607921
Retinitis Pigmentosa 29
Blindness, Rod-cone dystrophy, Attenuation of retinal blood vessels OMIM:612165
Charcot-Marie-Tooth Disease, Demyelinating, Type 1H
Macular degeneration OMIM:619764
Bardet-Biedl Syndrome 13
Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of retinal blood vessels OMIM:615990
Bleeding Disorder, Platelet-Type, 18
Prolonged bleeding time, Impaired ADP-induced platelet aggregation, Impaired epinephrine-induced ... OMIM:615888
Retinitis Pigmentosa 80
Blindness, Bone spicule pigmentation of the retina, Macular atrophy, Nyctalopia, Progressive visu... OMIM:617781
Retinitis Pigmentosa 39
Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of retinal blood vessels OMIM:613809
Immunodeficiency 18
Recurrent otitis media, Decreased proportion of CD3-positive T cells, Defective T cell proliferat... OMIM:615615
Retinitis Pigmentosa 73
Macular crystals, Optic disc pallor, Bone spicule pigmentation of the retina, Ring scotoma, Const... OMIM:616544
Retinitis Pigmentosa 62
Optic disc pallor, Bone spicule pigmentation of the retina, Bull's eye maculopathy, Nyctalopia, R... OMIM:614181
Retinitis Pigmentosa 4
Blindness, Retinal atrophy, Bone spicule pigmentation of the retina, Nyctalopia, Reduced visual a... OMIM:613731
Cone-Rod Dystrophy 22
Retinal pigment epithelial atrophy, Bull's eye maculopathy, Hyperautofluorescent macular lesion, ... OMIM:619531
Cone-Rod Dystrophy 24
Pericentral scotoma, Myopia, Cone/cone-rod dystrophy, Attenuation of retinal blood vessels, Macul... OMIM:620342
Retinitis Pigmentosa 32
Optic disc pallor, Bone spicule pigmentation of the retina, Pigmentary retinopathy, Photoreceptor... OMIM:609913
Deafness, Autosomal Dominant 1, With Or Without Thrombocytopenia
Impaired platelet aggregation, Macrothrombocytopenia, Thrombocytopenia OMIM:124900
Retinitis Pigmentosa 76
Bone spicule pigmentation of the retina, Constriction of peripheral visual field, Retinal thinnin... OMIM:617123
Ceroid Lipofuscinosis, Neuronal, 2
Cerebral atrophy, Increased extraneuronal autofluorescent lipopigment, Increased neuronal autoflu... OMIM:204500
Night Blindness, Congenital Stationary, Autosomal Dominant 1
Congenital stationary night blindness, Bone spicule pigmentation of the retina OMIM:610445
Retinitis Pigmentosa 33
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, R... OMIM:610359
Ceroid Lipofuscinosis, Neuronal, 7
Cerebellar atrophy, Blindness, Visual loss, Optic atrophy, Cerebral atrophy, Pigmentary retinopat... OMIM:610951
Cone-Rod Dystrophy 5
Cone/cone-rod dystrophy, Central scotoma, Retinal pigment epithelial mottling, Reduced visual acu... OMIM:600977
Bothnia Retinal Dystrophy
Large central visual field defect, Ring scotoma, Bone spicule pigmentation of the retina, Retinal... ORPHA:85128
Retinitis Pigmentosa 47
Nyctalopia, Chorioretinal atrophy, Pigmentary retinopathy, Rod-cone dystrophy, Visual impairment OMIM:613758
Retinitis Pigmentosa 68
Bone spicule pigmentation of the retina, Retinal atrophy, Nyctalopia, Reduced visual acuity, Visu... OMIM:615725
Nephronophthisis
Abnormality of retinal pigmentation ORPHA:655
Homocarnosinosis
Abnormality of skin pigmentation, Abnormality of retinal pigmentation OMIM:236130
Leber Congenital Amaurosis 12
Congenital blindness, Abnormality of macular pigmentation OMIM:610612
Best Vitelliform Macular Dystrophy
Choroideremia, Cystoid macular degeneration ORPHA:1243
Leber Congenital Amaurosis With Early-Onset Deafness
Retinal pigment epithelial mottling, Peripapillary atrophy, Retinal degeneration OMIM:617879
Muscular Atrophy-Ataxia-Retinitis Pigmentosa-Diabetes Mellitus Syndrome
Abnormality of retinal pigmentation ORPHA:2579
Macular Dystrophy, Patterned, 1
Metamorphopsia, Choroidal neovascularization, Nyctalopia, Reduced visual acuity, Absent foveal re... OMIM:169150
Cone-Rod Dystrophy, X-Linked, 1
Myopia, Retinal pigment epithelial atrophy, Retinal pigment epithelial mottling, Nyctalopia, Redu... OMIM:304020
Nanophthalmos
Abnormality of retinal pigmentation, Abnormal choroid morphology ORPHA:35612
Stargardt Disease
Retinal pigment epithelial atrophy, Retinal thinning, Abnormal foveal morphology, Retinal pigment... ORPHA:827
Retinitis Pigmentosa 35
Blindness, Rod-cone dystrophy, Reduced visual acuity, Nyctalopia OMIM:610282
Bleeding Disorder, Platelet-Type, 11
Impaired collagen-induced platelet aggregation, Prolonged bleeding time, Abnormal platelet count,... OMIM:614201
Retinitis Pigmentosa 81
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, N... OMIM:617871
Cone-Rod Dystrophy 11
Cone/cone-rod dystrophy, Macular degeneration, Bull's eye maculopathy, Macular atrophy OMIM:610381
Choroideremia
Myopia, Abnormality of retinal pigmentation, Nyctalopia, Abnormality of vision, Progressive visua... ORPHA:180
Glanzmann Thrombasthenia 1
Prolonged bleeding time, Decreased platelet glycoprotein IIb-IIIa, Impaired ADP-induced platelet ... OMIM:273800
Cone Rod Dystrophy
Abnormality of retinal pigmentation, Nyctalopia, Photophobia, Visual impairment, Color vision defect ORPHA:1872
Complement Component 4, Partial Deficiency Of
Systemic lupus erythematosus OMIM:120790
Retinitis Pigmentosa 17
Bone spicule pigmentation of the retina, Nyctalopia, Photophobia, Rod-cone dystrophy, Color visio... OMIM:600852
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10
Retinal dysplasia OMIM:615041
Retinitis Pigmentosa 70
Optic disc pallor, Macular degeneration, Rod-cone dystrophy, Retinal degeneration, Attenuation of... OMIM:615922
Peripheral Cone Dystrophy
Cone/cone-rod dystrophy, Optic disc pallor, Optic atrophy, Peripheral retinal degeneration OMIM:609021
Senior-Loken Syndrome 6
Rod-cone dystrophy, Reduced visual acuity, Visual impairment OMIM:610189
Retinitis Pigmentosa 54
Bone spicule pigmentation of the retina, Fundus atrophy, Nyctalopia, Rod-cone dystrophy, Visual i... OMIM:613428
Spastic Tetraplegia-Retinitis Pigmentosa-Intellectual Disability Syndrome
Severely reduced visual acuity, Rod-cone dystrophy ORPHA:3011
Macular Dystrophy, Vitelliform, 1
Reduced visual acuity, Visual field defect, Vitelliform-like macular lesions, Macular dystrophy, ... OMIM:153840
Sorsby Fundus Dystrophy
Macular dystrophy, Blindness, Chorioretinal atrophy OMIM:136900
Retinitis Pigmentosa 61
Bone spicule pigmentation of the retina, Nyctalopia, Rod-cone dystrophy, Visual impairment, Atten... OMIM:614180
Retinitis Pigmentosa 78
Optic disc pallor, Photopsia, Nyctalopia, Reduced visual acuity, Visual field defect, Cystoid mac... OMIM:617433
Retinitis Pigmentosa 57
Optic disc pallor, Bone spicule pigmentation of the retina, Absent foveal reflex, Rod-cone dystro... OMIM:613582
Ataxia-Tapetoretinal Degeneration Syndrome
Pigmentary retinopathy, Rod-cone dystrophy ORPHA:1178
Familial Drusen
Abnormality of retinal pigmentation, Macular drusen, Peripapillary chorioretinal atrophy, Choroid... ORPHA:75376
Retinitis Pigmentosa 7
Constriction of peripheral visual field, Nyctalopia, Adult-onset night blindness, Chorioretinal a... OMIM:608133
Retinitis Pigmentosa 90
Bone spicule pigmentation of the retina, Constriction of peripheral visual field, Retinal pigment... OMIM:619007
Pemphigus Vulgaris, Familial
Autoimmune antibody positivity, Autoimmunity OMIM:169610
Spinocerebellar Ataxia, Autosomal Recessive 12
Cerebellar atrophy, Optic atrophy, Retinal degeneration OMIM:614322
Retinitis Pigmentosa 19
Optic disc pallor, Bone spicule pigmentation of the retina, Constriction of peripheral visual fie... OMIM:601718
Platelet Disorder, Undefined
Prolonged bleeding time, Impaired platelet aggregation, Thrombocytopenia OMIM:173420
Newfoundland Rod-Cone Dystrophy
Retinal dystrophy, Scotoma, Nyctalopia, Visual impairment, Color vision defect OMIM:607476
Retinitis Pigmentosa 1
Myopia, Optic disc pallor, Constriction of peripheral visual field, Bone spicule pigmentation of ... OMIM:180100
Leber Hereditary Optic Neuropathy, Autosomal Recessive 1
Retinal telangiectasia, Central scotoma, Retinal nerve fiber edema, Central retinal vessel vascul... OMIM:619382
Usher Syndrome, Type Iv
Hyperautofluorescent macular lesion, Bone spicule pigmentation of the retina, Retinal atrophy, Re... OMIM:618144
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome
Abnormality of retinal pigmentation, Optic atrophy ORPHA:1574
Hypotrichosis, Congenital, With Juvenile Macular Dystrophy
Macular dystrophy, Blindness, Reduced visual acuity OMIM:601553
Bardet-Biedl Syndrome 6
Hypospadias, External genital hypoplasia, Pigmentary retinopathy, Rod-cone dystrophy, Vaginal atr... OMIM:605231
Retinitis Pigmentosa 63
Optic disc pallor, Nyctalopia, Rod-cone dystrophy, Blurred vision OMIM:614494
Senior-Loken Syndrome 7
Retinal degeneration OMIM:613615
Macular Dystrophy, Vitelliform, 4
Drusen, Macular dystrophy, Vitelliform-like macular lesions, Moderately reduced visual acuity OMIM:616151
Glanzmann Thrombasthenia
Prolonged bleeding time, Impaired thrombin-induced platelet aggregation, Impaired ADP-induced pla... ORPHA:849
Cone-Rod Dystrophy 16
Cone/cone-rod dystrophy, Optic disc pallor, Bone spicule pigmentation of the retina, Macular atro... OMIM:614500
Cerebellar Hypoplasia-Tapetoretinal Degeneration Syndrome
Abnormality of retinal pigmentation, Optic atrophy ORPHA:2246
Retinitis Pigmentosa 69
Constriction of peripheral visual field, Nyctalopia, Reduced visual acuity, Pigmentary retinopath... OMIM:615780
Retinitis Pigmentosa 28
Optic disc pallor, Bone spicule pigmentation of the retina, Constriction of peripheral visual fie... OMIM:606068
Progressive Cone Dystrophy
Abnormality of retinal pigmentation ORPHA:1871
Reticular Dystrophy Of Retinal Pigment Epithelium
Abnormality of retinal pigmentation, Pigmentary retinopathy OMIM:179840
Retinitis Pigmentosa 79
Optic disc pallor, Bone spicule pigmentation of the retina, Constriction of peripheral visual fie... OMIM:617460
Progressive Bifocal Chorioretinal Atrophy
Pigmentary retinopathy, Chorioretinal dystrophy, Macular atrophy ORPHA:75373
Macular Dystrophy, Vitelliform, 3
Metamorphopsia, Choroidal neovascularization, Macular atrophy, Drusen, Reduced visual acuity, Pho... OMIM:608161
Retinitis Pigmentosa 92
Constriction of peripheral visual field, Nyctalopia, Paracentral scotoma, Pigmentary retinopathy,... OMIM:619614
Retinitis Pigmentosa 96
Bone spicule pigmentation of the retina, Constriction of peripheral visual field, Retinal thinnin... OMIM:620228
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Pigmentary retinopathy OMIM:609016
Cone-Rod Dystrophy 12
Cone/cone-rod dystrophy, Bull's eye maculopathy, Central scotoma, Nyctalopia, Reduced visual acui... OMIM:612657
Retinitis Pigmentosa 13
Bone spicule pigmentation of the retina, Optic disc drusen, Perifoveal ring of hyperautofluoresce... OMIM:600059
Retinopathy Of Prematurity
Blindness, Retinal arteriolar tortuosity, Abnormal retinal vascular morphology, Abnormal macular ... ORPHA:90050
Macular Degeneration, Age-Related, 1
Macular drusen, Choroidal neovascularization, Geographic atrophy, Macular hemorrhage, Macular deg... OMIM:603075
Retinitis Pigmentosa 20
Nyctalopia, Severely reduced visual acuity, Rod-cone dystrophy, Visual impairment, Attenuation of... OMIM:613794
Macular Dystrophy, Retinal, 4
Reduced OCT-measured foveal thickness, Nyctalopia, Choroidal neovascularization, Reduced visual a... OMIM:619977
Wagner Vitreoretinopathy
Retinal pigment epithelial atrophy, Optically empty vitreous, Optic atrophy, Chorioretinal atroph... OMIM:143200
Retinitis Pigmentosa 18
Scotoma, Nyctalopia, Progressive visual field defects, Retinal arteriolar constriction, Rod-cone ... OMIM:601414
Retinitis Pigmentosa 3
Bone spicule pigmentation of the retina, Constriction of peripheral visual field, Ring scotoma, N... OMIM:300029
Retinal Dystrophy With Inner Retinal Dysfunction And Ganglion Cell Abnormalities
Optic disc pallor, Retinal dystrophy, Central scotoma, Nyctalopia, Reduced visual acuity, Photoph... OMIM:616079
Bleeding Disorder, Platelet-Type, 16
Giant platelets, Macrothrombocytopenia, Platelet anisocytosis, Impaired platelet aggregation, Thr... OMIM:187800
Bothnia Retinal Dystrophy
Macular degeneration, Retinal dystrophy OMIM:607475
Retinitis Pigmentosa 95
Optic disc pallor, Bone spicule pigmentation of the retina, Constriction of peripheral visual fie... OMIM:620102
Retinitis Pigmentosa 38
Optic disc pallor, Constriction of peripheral visual field, Macular atrophy, Peripheral retinal a... OMIM:613862
Cone-Rod Dystrophy 15
Attenuation of retinal blood vessels, Constriction of peripheral visual field, Retinal pigment ep... OMIM:613660
Blue Cone Monochromatism
Abnormality of retinal pigmentation ORPHA:16
Leber Congenital Amaurosis 4
Cone/cone-rod dystrophy, Optic disc pallor, Blindness, Macular atrophy, Nyctalopia, Reduced visua... OMIM:604393
Exudative Vitreoretinopathy 3
Retinal detachment, Retinal exudate, Exudative vitreoretinopathy, Retinal hole, Retinal fold OMIM:605750
Bestrophinopathy, Autosomal Recessive
Retinal pigment epithelial atrophy, Retinal flecks OMIM:611809
Cone-Rod Dystrophy 21
Retinal dystrophy, Macular atrophy, Nyctalopia, Reduced visual acuity, Photophobia OMIM:616502
Cone-Rod Dystrophy 2
Cone/cone-rod dystrophy, Blindness, Metamorphopsia, Constriction of peripheral visual field, Reti... OMIM:120970
Optic Atrophy 13 With Retinal And Foveal Abnormalities
Optic atrophy, Reduced visual acuity, Attenuation of retinal blood vessels OMIM:165510
Achromatopsia
Hypoplasia of the fovea, Myopia, Attenuation of retinal blood vessels, Retinal pigment epithelial... ORPHA:49382
Retinitis Pigmentosa 40
Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of retinal blood vessels OMIM:613801
Von Willebrand Disease, X-Linked Form
Prolonged bleeding time OMIM:314560
Retinitis Pigmentosa 85
Progressive night blindness, Rod-cone dystrophy, Reduced visual acuity OMIM:618345
Ophthalmoplegia, External, And Myopia
Retinal degeneration, Chorioretinal degeneration OMIM:311000
Retinitis Pigmentosa 2
Pericentral scotoma, Myopia, Constriction of peripheral visual field, Ring scotoma, Bull's eye ma... OMIM:312600
Retinal Cone Dystrophy 4
Cone/cone-rod dystrophy, Constriction of peripheral visual field, Retinal pigment epithelial mott... OMIM:610478
Retinitis Pigmentosa 71
Optic disc pallor, Nyctalopia, Optic disc drusen, Perifoveal ring of hyperautofluorescence, Rod-c... OMIM:616394
Immunodeficiency 24
Lymphopenia, Decreased CD4:CD8 ratio, Decreased circulating IgG2 level, Reduced proportion of muc... OMIM:615897
Bleeding Disorder, Platelet-Type, 13, Susceptibility To
Impaired thromboxane A2 agonist-induced platelet aggregation OMIM:614009
X-Linked Neurodegenerative Syndrome, Bertini Type
Macular degeneration ORPHA:85334
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes
T lymphocytopenia, Decreased circulating IgG level OMIM:242870
Retinitis Pigmentosa 9
Bone spicule pigmentation of the retina, Constriction of peripheral visual field, Macular atrophy... OMIM:180104
Cone-Rod Dystrophy 13
Cone/cone-rod dystrophy, Macular degeneration OMIM:608194
Retinitis Pigmentosa 88
Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Cystoid macular... OMIM:618826
Leber Congenital Amaurosis 2
Optic disc pallor, Blindness, Nyctalopia, Fundus atrophy, Reduced visual acuity, Absent foveal re... OMIM:204100
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Pancytopenia, Decreased helper T cell proportion, Hypersplenism, Splenomegaly, Cutaneous anergy OMIM:183350
Cavitary Optic Disc Anomalies
Nyctalopia, Peripapillary atrophy, Reduced visual acuity, Visual field defect OMIM:611543
Retinitis Pigmentosa 84
Bone spicule pigmentation of the retina, Macular atrophy, Macular coloboma, Nyctalopia, Visual ac... OMIM:618220
Congenital Stationary Night Blindness
Myopia, Abnormality of retinal pigmentation, Retinal thinning, Nyctalopia, Reduced visual acuity,... ORPHA:215
Pigmented Paravenous Chorioretinal Atrophy
Bone spicule pigmentation of the retina, Paravenous chorioretinal atrophy, Vitreoretinopathy OMIM:172870
Pseudo-Von Willebrand Disease
Prolonged bleeding time, Intermittent thrombocytopenia OMIM:177820
Retinitis Pigmentosa 50
Retinal detachment, Optic disc pallor, Nyctalopia, Reduced visual acuity, Retinal flecks, Rod-con... OMIM:613194
Neuropathy, Ataxia, And Retinitis Pigmentosa
Retinal pigment epithelial mottling, Rod-cone dystrophy, Retinopathy, Corticospinal tract atrophy OMIM:551500
Cone-Rod Dystrophy 20
Cone/cone-rod dystrophy, Optic disc pallor, Bone spicule pigmentation of the retina, Constriction... OMIM:615973
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma
Cystoid macular degeneration, Macular atrophy, Retinal degeneration OMIM:267760
Mental Retardation With Optic Atrophy, Deafness, And Seizures
Blindness, Optic atrophy, Severely reduced visual acuity OMIM:309555
Oculorenocerebellar Syndrome
Retinal degeneration OMIM:257970
Cone Dystrophy 3
Cone/cone-rod dystrophy, Macular atrophy, Reduced visual acuity, Photophobia, Progressive visual ... OMIM:602093
Central Retinal Vein Occlusion
Papilledema, Epiretinal membrane, Intraretinal hemorrhage, Macular edema, Macular degeneration, P... ORPHA:411527
Microphthalmia, Isolated 5
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, N... OMIM:611040
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis
Autoimmune hemolytic anemia, Pneumonia, Glomerulonephritis, Plasmacytosis, Increased circulating ... OMIM:247800
Tn Polyagglutination Syndrome
Abnormal erythrocyte morphology, Autoimmunity OMIM:300622
Leber Congenital Amaurosis 9
Attenuation of retinal blood vessels, Optic disc pallor, Bone spicule pigmentation of the retina,... OMIM:608553
Prolonged Electroretinal Response Suppression 2
Mildly reduced visual acuity, Difficulty adjusting to changes in luminance, Reduced visual acuity... OMIM:620344
Ceroid Lipofuscinosis, Neuronal, 3
Increased neuronal autofluorescent lipopigment, Increased extraneuronal autofluorescent lipopigme... OMIM:204200
Lodder-Merla Syndrome, Type 1, With Impaired Intellectual Development And Cardiac Arrhythmia
Retinal degeneration OMIM:617173
Usher Syndrome, Type Iiia
Nyctalopia, Rod-cone dystrophy, Reduced visual acuity, Visual field defect OMIM:276902
Fleck Retina, Familial Benign
Nyctalopia, Retinal flecks, Visual impairment OMIM:228980
Spinocerebellar Ataxia, Autosomal Recessive 29
Cerebellar atrophy, Optic disc pallor, Corpus callosum atrophy, Retinal pigment epithelial mottli... OMIM:619389
Oliver-Mcfarlane Syndrome
Pigmentary retinopathy, Central heterochromia, Retinal degeneration OMIM:275400
Vitreoretinopathy With Phalangeal Epiphyseal Dysplasia
Rhegmatogenous retinal detachment, Lattice retinal degeneration OMIM:619248
Retinitis Pigmentosa
Rod-cone dystrophy, Nyctalopia, Constriction of peripheral visual field, Abnormality of fundus pi... OMIM:268000
Retinal Dystrophy And Obesity
Retinal detachment, Retinal pigment epithelial atrophy, Retinal dystrophy, Retinal dots, Peripapi... OMIM:616188
Optic Atrophy 12
Optic disc pallor, Optic atrophy, Reduced visual acuity, Photophobia, Dyschromatopsia, Abnormal I... OMIM:618977
Intellectual Developmental Disorder And Retinitis Pigmentosa
Abnormal flash visual evoked potentials, Optic disc pallor, Bone spicule pigmentation of the reti... OMIM:618195
Achromatopsia 7
Hypoplasia of the fovea, Macular atrophy, Central scotoma, Reduced visual acuity, Absent foveal r... OMIM:616517
Macular Dystrophy With Central Cone Involvement
Optic disc pallor, Bull's eye maculopathy, Central scotoma, Red-green dyschromatopsia, Reduced vi... OMIM:616170
Fundus Albipunctatus
Nyctalopia, Retinal flecks, Fundus albipunctatus OMIM:136880
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1
Retinal detachment, Abnormality of retinal pigmentation, Optic disc pallor, Retinal dystrophy, Ch... OMIM:251270
Retinitis Pigmentosa 6
Constriction of peripheral visual field, Chorioretinal degeneration, Nyctalopia, Pigmentary retin... OMIM:312612
Retinal Capillary Malformation
Myopia, Blindness, Subretinal exudate, Central fundal arteriolar microaneurysms, Photopsia, Vitre... ORPHA:71213
Leber Congenital Amaurosis 1
Hepatomegaly, Blindness, Nyctalopia, Fundus atrophy, Reduced visual acuity, Optic disc drusen, Ph... OMIM:204000
Macular Degeneration, Age-Related, 3
Drusen, Macular degeneration, Decreased nerve conduction velocity, Choroidal neovascularization OMIM:608895
Tritanopia
Abnormal retinal morphology, Color vision test abnormality, Reduced visual acuity, Photophobia, T... ORPHA:88629
Immunodeficiency 105
Impaired lymphocyte transformation with phytohemagglutinin, Decreased circulating IgG level, Panc... OMIM:619924
Reese Retinal Dysplasia
Remnants of the hyaloid vascular system, Retinal dysplasia OMIM:266400
Combined Cellular And Humoral Immune Defects With Granulomas
T lymphocytopenia, Decreased circulating IgG level, B lymphocytopenia OMIM:233650
Retinopathy, Pericentral Pigmentary, Autosomal Recessive
Pigmentary retinopathy OMIM:268060
Retinitis Pigmentosa 87 With Choroidal Involvement
Pigmentary retinopathy, Bone spicule pigmentation of the retina, Chorioretinal atrophy, Nummular ... OMIM:618697
Temporal Arteritis
Blindness, Retinal arteritis OMIM:187360
Exudative Vitreoretinopathy 5
Reduced visual acuity, Exudative vitreoretinopathy, Falciform retinal fold, Visual impairment, Re... OMIM:613310
Retinal Dystrophy, Juvenile Cataracts, And Short Stature Syndrome
Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, Retinal dystrophy, R... OMIM:616108
Immunoglobulin A Deficiency 2
Abnormal lymphocyte morphology, Autoimmunity, Decreased circulating IgA level OMIM:609529
Nephronophthisis 15
Retinal degeneration OMIM:614845
Ceroid Lipofuscinosis, Neuronal, 1
Increased neuronal autofluorescent lipopigment, Optic atrophy, Cerebral atrophy, Macular degenera... OMIM:256730
Leber Congenital Amaurosis 16
Optic disc pallor, Nyctalopia, Reduced visual acuity, Visual field defect, Photophobia, Visual im... OMIM:614186
Retinal Cone Dystrophy 3B
Cone/cone-rod dystrophy, Myopia, Scotoma, Macular atrophy, Nyctalopia, Reduced visual acuity, Pho... OMIM:610356
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Inflammatory abnormality of the skin, Sinusitis, Autoimmunity, Anti-thyroid peroxidase antibody p... ORPHA:277
Retinitis Pigmentosa 12
Optic disc pallor, Bone spicule pigmentation of the retina, Nyctalopia, Reduced visual acuity, Hi... OMIM:600105
Cone Dystrophy 4
Cone/cone-rod dystrophy, Reduced visual acuity, Absent foveal reflex, Photophobia, Dyschromatopsi... OMIM:613093
Usher Syndrome, Type Iid
Nyctalopia, Rod-cone dystrophy OMIM:611383
Retinitis Pigmentosa 49
Optic disc pallor, Bone spicule pigmentation of the retina, Nyctalopia, Reduced visual acuity, Pe... OMIM:613756
Autoimmune Disease, Multisystem, Infantile-Onset, 2
Impaired lymphocyte transformation with phytohemagglutinin, Increased CD4:CD8 ratio, Autoimmunity... OMIM:617006
Developmental Delay, Impaired Growth, Dysmorphic Facies, And Axonal Neuropathy
Cerebellar atrophy, Pigmentary retinopathy, Cerebral atrophy OMIM:619090
Optic Atrophy 3, Autosomal Dominant
Reduced visual acuity, Optic disc pallor, Optic atrophy, Scotoma OMIM:165300
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Abnormal platelet function, Thrombocytopenia ORPHA:231393
Usher Syndrome, Type 1M
Left ventricular hypertrophy, Optic disc pallor, Nyctalopia, Drusen OMIM:618632
Neuropathy, Hereditary Motor And Sensory, Type Vic, With Optic Atrophy
Optic disc pallor, Optic atrophy, Reduced visual acuity, Color vision defect OMIM:618511
Multiple Mitochondrial Dysfunctions Syndrome 5
Pigmentary retinopathy OMIM:617613
Bleeding Disorder, Platelet-Type, 21
Thrombocytopenia, Impaired ADP-induced platelet aggregation, Impaired platelet aggregation, Incre... OMIM:617443
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase
Splenomegaly, Recurrent pancreatitis OMIM:118830
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant
T lymphocytopenia, Atopic dermatitis, Pneumonia, Abnormally low T cell receptor excision circle l... OMIM:618806
Nephronophthisis 14
Retinal degeneration OMIM:614844
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3
Reduced visual acuity, Visual impairment, Chorioretinal dysplasia OMIM:616335
Diabetes And Deafness, Maternally Inherited
Pigmentary retinopathy, Retinal degeneration OMIM:520000
Combined Immunodeficiency, X-Linked
Sinusitis, Pneumonia, Decreased proportion of CD8-positive T cells, Otitis media, Decreased propo... OMIM:312863
Immunodeficiency 25
Autoimmune hemolytic anemia, Eosinophilia, Increased circulating IgA level, Increased circulating... OMIM:610163
Chorioretinal Atrophy, Progressive Bifocal
Retinal detachment, Chorioretinal dystrophy, Chorioretinal atrophy OMIM:600790
Retinitis Pigmentosa 66
Optic disc pallor, Bone spicule pigmentation of the retina, Constriction of peripheral visual fie... OMIM:615233
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss
Prolonged bleeding time, Impaired ADP-induced platelet aggregation, Giant platelets, Macrothrombo... OMIM:155100
Morm Syndrome
Retinal atrophy, Retinal dystrophy ORPHA:75858
Retinitis Pigmentosa 77
Bone spicule pigmentation of the retina, Retinal atrophy, Rod-cone dystrophy, Cystoid macular ede... OMIM:617304
Retinitis Pigmentosa 86
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, N... OMIM:618613
Retinitis Pigmentosa 83
Bone spicule pigmentation of the retina, Constriction of peripheral visual field, Vitreous floate... OMIM:618173
Bardet-Biedl Syndrome 4
Rod-cone dystrophy, Retinal degeneration OMIM:615982
Leber Congenital Amaurosis 14
Optic disc pallor, Retinal dystrophy, Nyctalopia, Reduced visual acuity, Photophobia, Congenital ... OMIM:613341
Blue Cone Monochromacy
Blue cone monochromacy, Myopia, Reduced visual acuity, Photophobia, Abnormality of macular pigmen... OMIM:303700
Myopia, High, With Cataract And Vitreoretinal Degeneration
Retinal detachment, Vitreous floaters, Peripheral vitreoretinal degeneration, Lattice retinal deg... OMIM:614292
Severe Combined Immunodeficiency, X-Linked
Impaired lymphocyte transformation with phytohemagglutinin, Hepatomegaly, Skin rash, Pneumonia, R... OMIM:300400
Bardet-Biedl Syndrome 16
Rod-cone dystrophy, Retinal degeneration OMIM:615993
Severe Combined Immunodeficiency Due To Foxn1 Deficiency
T lymphocytopenia ORPHA:169095
Bornholm Eye Disease
Abnormality of retinal pigmentation, Optic nerve hypoplasia, Deuteranopia, Amblyopia, High myopia... OMIM:300843
Autosomal Recessive Complex Spastic Paraplegia Due To Kennedy Pathway Dysfunction
Retinal pigment epithelial mottling, Central retinal vessel vascular tortuosity, Hyporeflective s... ORPHA:506353
Bleeding Disorder, Platelet-Type, 8
Impaired ADP-induced platelet aggregation OMIM:609821
Cone-Rod Dystrophy 3
Cone/cone-rod dystrophy, Optic disc pallor, Attenuation of retinal blood vessels, Bull's eye macu... OMIM:604116
Ceroid Lipofuscinosis, Neuronal, 5
Cerebellar atrophy, Cerebral cortical atrophy, Increased neuronal autofluorescent lipopigment, Re... OMIM:256731
Congenital Glaucoma
Retinal detachment ORPHA:98976
Fetal Cytomegalovirus Syndrome
Splenomegaly, Hepatomegaly, Abnormality of vision, Anemia ORPHA:294
Fundus Dystrophy, Pseudoinflammatory, Recessive Form
Retinal hemorrhage, Central retinal exudate, Peripheral retinal degeneration OMIM:264420
Hashimoto Thyroiditis
Autoimmune antibody positivity, Hashimoto thyroiditis OMIM:140300
Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome
Pigmentary retinopathy, Retinal degeneration ORPHA:3363
Moyamoya Disease With Early-Onset Achalasia
Abnormal platelet aggregation, Thrombocytopenia ORPHA:401945
Retinitis Pigmentosa 41
Optic disc pallor, Bone spicule pigmentation of the retina, Nyctalopia, Peripheral visual field l... OMIM:612095
Retinitis Pigmentosa 58
Optic disc pallor, Bone spicule pigmentation of the retina, Nyctalopia, Peripheral visual field l... OMIM:613617
Exudative Vitreoretinopathy 2, X-Linked
Retinal detachment, Peripheral retinal avascularization, Subretinal exudate, Intraretinal exudate... OMIM:305390
Meckel Diverticulum
Meckel diverticulum OMIM:155140
Blood Group, Cromer System
Protein-losing enteropathy OMIM:613793
Von Willebrand Disease
Abnormality of thrombocytes, Abnormal platelet function ORPHA:903
Bardet-Biedl Syndrome 5
External genital hypoplasia, Reduced visual acuity, Hypogonadism, Macular dystrophy, Micropenis, ... OMIM:615983
Cernunnos-Xlf Deficiency
Autoimmunity, Decreased circulating antibody level, Anemia, T lymphocytopenia, B lymphocytopenia,... ORPHA:169079
Spondylometaphyseal Dysplasia, Axial
Cone/cone-rod dystrophy, Rod-cone dystrophy, Optic atrophy, Retinal degeneration OMIM:602271
Impaired Intellectual Development, Truncal Obesity, Retinal Dystrophy, And Micropenis Syndrome
Micropenis, Retinal dystrophy, Reduced visual acuity, Nyctalopia OMIM:610156
Cone-Rod Dystrophy 8
Cone/cone-rod dystrophy, Abnormality of retinal pigmentation, Blindness, Nyctalopia, Peripheral v... OMIM:605549
Retinitis Pigmentosa 60
Optic disc pallor, Bone spicule pigmentation of the retina, Constriction of peripheral visual fie... OMIM:613983
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant
Splenomegaly, Bronchiectasis, Decreased proportion of class-switched memory B cells, Increased ci... OMIM:615513
Night Blindness, Congenital Stationary, Type 1F
Retinal perforation, Nyctalopia, Reduced visual acuity, High myopia, Congenital stationary night ... OMIM:615058
Retinal Dystrophy, Iris Coloboma, And Comedogenic Acne Syndrome
Retinal dystrophy, Peripheral retinal atrophy, Nyctalopia, Reduced visual acuity, Absent foveal r... OMIM:615147
Ophthalmoplegia-Intellectual Disability-Lingua Scrotalis Syndrome
Abnormality of retinal pigmentation, Facial palsy ORPHA:2743
Retinitis Pigmentosa 10
Optic disc pallor, Bone spicule pigmentation of the retina, Constriction of peripheral visual fie... OMIM:180105
Cone-Rod Dystrophy 18
Cone/cone-rod dystrophy, Central scotoma, Reduced visual acuity, High myopia, Foveal hyperpigment... OMIM:615374
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Hemolytic anemia, Autoimmune hemolytic anemia, Autoimmunity, Autoimmune thrombocytopenia, Splenom... ORPHA:444463
Canavan Disease
Abnormality of visual evoked potentials, Abnormality of retinal pigmentation, Optic atrophy ORPHA:141
Immunodeficiency 15A
Decreased proportion of CD8-positive T cells, Chronic mucocutaneous candidiasis, Recurrent otitis... OMIM:618204
Cone-Rod Dystrophy, X-Linked, 3
Cone/cone-rod dystrophy, Myopia, Retinal detachment, Optic disc pallor, Central scotoma, Reduced ... OMIM:300476
Morning Glory Disc Anomaly
Retinal detachment, Optic disc coloboma, Abnormality of retinal pigmentation ORPHA:35737
Jalili Syndrome
Cone/cone-rod dystrophy, Optic disc pallor, Bone spicule pigmentation of the retina, Scotoma, Mac... OMIM:217080
Nystagmus 2, Congenital, Autosomal Dominant
Mildly reduced visual acuity, Reduced visual acuity, Visual impairment OMIM:164100
Bardet-Biedl Syndrome 2
Rod-cone dystrophy, Retinal degeneration OMIM:615981
Retinitis Pigmentosa 51
Bone spicule pigmentation of the retina, Nyctalopia, Reduced visual acuity, High myopia, Photopho... OMIM:613464
Wolfram-Like Syndrome, Autosomal Dominant
Optic disc pallor, Blind-spot enlargment, Optic atrophy, Reduced visual acuity, Severely reduced ... OMIM:614296
Acute Zonal Occult Outer Retinopathy
Blind-spot enlargment, Vitritis, Myopia, Retinal pigment epithelial mottling, Hemianopia, Rod-con... ORPHA:284454
Retinal Cone Dystrophy 3A
Cone dystrophy, Nyctalopia, Reduced visual acuity, High myopia, Photophobia, Dyschromatopsia OMIM:610024
Microcephaly-Cardiomyopathy Syndrome
Abnormality of retinal pigmentation ORPHA:2515
Retinitis Pigmentosa 72
Optic disc pallor, Bone spicule pigmentation of the retina, Constriction of peripheral visual fie... OMIM:616469
Retinal Arterial Macroaneurysm With Supravalvular Pulmonic Stenosis
Exudative retinal detachment, Retinal arterial macroaneurysms OMIM:614224
Irvan Syndrome
Retinal detachment, Vitreous floaters, Optic atrophy, Reduced visual acuity, Macular edema, Photo... ORPHA:209943
Cone-Rod Dystrophy 6
Cone/cone-rod dystrophy, Bone spicule pigmentation of the retina, Macular atrophy, Nyctalopia, Ch... OMIM:601777
Exudative Vitreoretinopathy 4
Blindness, Peripheral retinal avascularization, Reduced visual acuity, Posterior vitreous detachm... OMIM:601813
Vitreoretinopathy, Neovascular Inflammatory
Peripheral retinal neovascularization, Retinal detachment, Large hyperpigmented retinal spots, Po... OMIM:193235
Leber Congenital Amaurosis 8
Macular coloboma, Chorioretinal atrophy, Nummular pigmentation of the fundus, Pigmentary retinopa... OMIM:613835
Gyrate Atrophy Of Choroid And Retina
Myopia, Blindness, Nyctalopia, Foveoschisis, Chorioretinal atrophy, Macular thickening, Visual im... OMIM:258870
Retinitis Pigmentosa 59
Hepatomegaly, Constriction of peripheral visual field, Cryptorchidism, Nyctalopia, Reduced visual... OMIM:613861
Vaginal Atresia
Cervicitis, Vaginal hematocele, Abdominal mass, Pelvic mass, Transverse vaginal septum, Uterus di... ORPHA:65681
Microcephaly 20, Primary, Autosomal Recessive
Hypoplasia of the uterus, Blindness, Optic nerve hypoplasia, Vaginal atresia OMIM:617914
Immunodeficiency 50
Decreased circulating antibody level, Lymphopenia, Eczema, Neutropenia OMIM:300988
Aplasia Cutis-Myopia Syndrome
Abnormality of retinal pigmentation ORPHA:1117
Familial Exudative Vitreoretinopathy
Macular exudate, Blindness, Peripheral retinal avascularization, Rhegmatogenous retinal detachmen... ORPHA:891
Birdshot Chorioretinopathy
Retinal detachment, Optic disc pallor, Abnormal chorioretinal morphology, Choroidal neovasculariz... ORPHA:179
Bardet-Biedl Syndrome 1
Decreased testicular size, Myopia, Bone spicule pigmentation of the retina, Retinal dystrophy, Ag... OMIM:209900
Exudative Vitreoretinopathy 1
Retinal detachment, Peripheral retinal avascularization, Vitreous floaters, Exudative vitreoretin... OMIM:133780
Sandhoff Disease
Splenomegaly, Hepatomegaly, Blindness, Cherry red spot of the macula ORPHA:796
Immunodeficiency 104
Hepatomegaly, Pneumonia, Eczema, Splenomegaly, Chronic mucocutaneous candidiasis, T lymphocytopen... OMIM:608971
Tatsumi Factor Deficiency
Prolonged bleeding time OMIM:272650
Iris Pigment Layer, Cleavage Of
Peripheral retinal detachment OMIM:147610
Retinitis Pigmentosa
Abnormality of retinal pigmentation, Hypoplasia of penis, Blindness, Abnormal retinal vascular mo... ORPHA:791
Retinitis Pigmentosa 45
Macular degeneration, Bone spicule pigmentation of the retina, Rod-cone dystrophy OMIM:613767
Reticular Dysgenesis
Congenital agranulocytosis, Impaired T cell function, Lack of T cell function, Leukopenia, Hypopl... OMIM:267500
Retinitis Pigmentosa 46
Optic disc pallor, Rod-cone dystrophy, Pigmentary retinopathy, Attenuation of retinal blood vessels OMIM:612572
Bardet-Biedl Syndrome 3
External genital hypoplasia, Nyctalopia, Pigmentary retinopathy, Rod-cone dystrophy, Visual impai... OMIM:600151
Bardet-Biedl Syndrome 21
Cone/cone-rod dystrophy, Hypoplasia of the fovea, Retinal atrophy, Retinal thinning, Hyperautoflu... OMIM:617406
Combined Immunodeficiency Due To Partial Rag1 Deficiency
Autoimmune hemolytic anemia, Autoimmunity, Splenomegaly, Neutropenia in presence of anti-neutropi... ORPHA:231154
Systemic Lupus Erythematosus 16
Antinuclear antibody positivity, Perinuclear antineutrophil antibody positivity, Anti-dsDNA antib... OMIM:614420
Hypotaurinemic Retinal Degeneration And Cardiomyopathy
Retinal thinning, Peripheral retinal atrophy, Macular atrophy, Retinal pigment epithelial mottlin... OMIM:145350
Cone-Rod Dystrophy 10
Bone spicule pigmentation of the retina, Nyctalopia, Peripheral visual field loss, Photophobia, M... OMIM:610283
Retinitis Pigmentosa 43
Optic disc pallor, Bone spicule pigmentation of the retina, Nyctalopia, Peripheral visual field l... OMIM:613810
Bardet-Biedl Syndrome 12
Abdominal mass, Hydrometrocolpos, Hypogonadism, Rod-cone dystrophy, Vaginal atresia OMIM:615989
Diprosopus
Abnormality of retinal pigmentation ORPHA:1681
Retinitis Pigmentosa 25
Optic disc pallor, Bone spicule pigmentation of the retina, Constriction of peripheral visual fie... OMIM:602772
Glutathione Synthetase Deficiency
Pigmentary retinopathy OMIM:266130
Leber Congenital Amaurosis 11
Reduced visual acuity, Visual impairment OMIM:613837
Autoimmune Lymphoproliferative Syndrome
Rheumatoid factor positive, Iron deficiency anemia, Increased circulating IgG level, Platelet ant... OMIM:601859
Spinocerebellar Ataxia 7
Macular degeneration, Optic atrophy, Pigmentary retinopathy OMIM:164500
Eem Syndrome
Macular dystrophy, Abnormality of retinal pigmentation, Retinopathy ORPHA:1897
Retinitis Pigmentosa 14
Optic disc pallor, Bone spicule pigmentation of the retina, Constriction of peripheral visual fie... OMIM:600132
Retinitis Punctata Albescens
Retinal atrophy, Macular atrophy, Central scotoma, Nyctalopia, Progressive visual field defects, ... ORPHA:52427
Adult-Onset Foveomacular Vitelliform Dystrophy
Iris hypopigmentation, Visual field defect, Abnormality of vision, Retinal nonattachment, Vitelli... ORPHA:99000
Kearns-Sayre Syndrome
Abnormality of retinal pigmentation ORPHA:480
Pseudoxanthoma Elasticum-Like Skin Manifestations With Retinitis Pigmentosa
Absent retinal pigment epithelium, Nyctalopia, Abnormal fundus morphology, Abnormal optic nerve m... ORPHA:436274
Oguchi Disease
Congenital stationary night blindness, Macular degeneration, Rod-cone dystrophy, Mizuo phenomenon ORPHA:75382
Retinitis Pigmentosa 56
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, N... OMIM:613581
Osteoporosis-Macrocephaly-Blindness-Joint Hyperlaxity Syndrome
Blindness, Optic atrophy ORPHA:2787
Platelet Disorder, Familial, With Associated Myeloid Malignancy
Prolonged bleeding time, Impaired platelet aggregation, Abnormal dense granule content, Thrombocy... OMIM:601399
Retinitis Pigmentosa 93
Retinal dots, Constriction of peripheral visual field, Reduced visual acuity, Rod-cone dystrophy OMIM:619845
Retinitis Pigmentosa 89
Constriction of peripheral visual field, Retinal thinning, Micronodular cirrhosis, Nyctalopia, He... OMIM:618955
Retinitis Pigmentosa 37
Constriction of peripheral visual field, Red-green dyschromatopsia, Nyctalopia, Reduced visual ac... OMIM:611131
Optic Atrophy 10 With Or Without Ataxia, Impaired Intellectual Development, And Seizures
Optic disc pallor, Blind-spot enlargment, Central scotoma, Reduced visual acuity, Photophobia, Co... OMIM:616732
Senior-Loken Syndrome
Abnormality of retinal pigmentation, Premature ovarian insufficiency, Retinal dystrophy, Congenit... ORPHA:3156
Narp Syndrome
Abnormal visual field test, Blindness, Constriction of peripheral visual field, Optic disc pallor... ORPHA:644
Wiskott-Aldrich Syndrome 2
Eczema, Reduced natural killer cell activity, Decreased proportion of CD8-positive T cells, Defec... OMIM:614493
Coloboma Of Optic Nerve
Retinal detachment, Optic disc coloboma OMIM:120430
Chromosome Xq21 Deletion Syndrome
Constriction of peripheral visual field, Chorioretinal degeneration, Nyctalopia, Chorioretinal at... OMIM:303110
Primary Hypomagnesemia With Hypercalciuria And Nephrocalcinosis With Severe Ocular Involvement
Abnormality of retinal pigmentation, Macular coloboma, Chorioretinal coloboma ORPHA:2196
Immunodeficiency 19
Recurrent otitis media, T lymphocytopenia, Abnormal B cell morphology, Abnormal natural killer ce... OMIM:615617
Optic Atrophy 5
Optic disc pallor, Abnormality of pattern visual evoked potentials, Optic atrophy OMIM:610708
Albinism, Oculocutaneous, Type Vi
Hypoplasia of the fovea, Reduced visual acuity, Photophobia, Generalized hypopigmentation, Fair h... OMIM:113750
Corneal Dystrophy, Avellino Type
Reduced visual acuity, Visual impairment OMIM:607541
Microcephaly-Thin Corpus Callosum-Intellectual Disability Syndrome
Abnormality of retinal pigmentation, Cerebral atrophy ORPHA:397951
Nanophthalmos 4
Reduced visual acuity, Hypermetropia, Optic disc drusen OMIM:615972
Night Blindness, Congenital Stationary, Type 1G
Optic disc pallor, Constriction of peripheral visual field, Congenital stationary night blindness... OMIM:616389
Gray Platelet Syndrome
Prolonged bleeding time, Impaired thrombin-induced platelet aggregation, Abnormal number of alpha... OMIM:139090
Quebec Platelet Disorder
Thrombocytopenia, Impaired epinephrine-induced platelet aggregation OMIM:601709
Vitreoretinal Degeneration, Snowflake Type
Retinal detachment, Snowflake vitreoretinal degeneration, Optically empty vitreous, Retinal dots OMIM:193230
Mitochondrial Dna Depletion Syndrome 14 (Cardioencephalomyopathic Type)
Retinal degeneration OMIM:616896
Oculocutaneous Albinism Type 6
Abnormal iris pigmentation, Reduced visual acuity, Abnormal fundus morphology, Abnormal foveal mo... ORPHA:370097
Immunodeficiency 57 With Autoinflammation
Skin rash, Gastritis, Perianal abscess, Bronchiectasis, Decreased circulating antibody level, T l... OMIM:618108
Late-Onset Retinal Degeneration
Multifocal subretinal deposits, Choroidal neovascularization, Macular atrophy, Drusen, Red-green ... ORPHA:67042
Gyrate Atrophy Of Choroid And Retina
Myopia, Blindness, Constriction of peripheral visual field, Chorioretinal degeneration, Chorioret... ORPHA:414
Mucolipidosis Iv
Cerebellar atrophy, Optic atrophy, Retinal degeneration OMIM:252650
Immunodeficiency 102
Leukopenia, Decreased circulating IgG level, Hypothyroidism, Hepatomegaly, Partial absence of spe... OMIM:301082
Chromosome Xp11.3 Deletion Syndrome
Moderate myopia, Constriction of peripheral visual field, Blindness, Cryptorchidism, Nyctalopia, ... OMIM:300578
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive
Pneumonia, Purulent rhinitis, T lymphocytopenia, Arthritis, B lymphocytopenia, Conjunctivitis, Ot... OMIM:601457
Oculocutaneous Albinism, Type Viii
Hypoplasia of the fovea, Hypopigmentation of hair, Reduced visual acuity, Photophobia, Iris trans... OMIM:619165
Immunodeficiency 13
Lymphopenia, Recurrent pneumonia, Bronchiectasis, T lymphocytopenia, B lymphocytopenia, Recurrent... OMIM:615518
Abetalipoproteinemia
Retinopathy, Retinal degeneration OMIM:200100
Platelet Glycoprotein Iv Deficiency
Prolonged bleeding time, Giant platelets, Thrombocytopenia OMIM:608404
Chromosome 16Q12 Duplication Syndrome
Retinal pigment epithelial mottling, Nyctalopia, Reduced visual acuity, High myopia, Photophobia,... OMIM:619649
Leber Congenital Amaurosis
Abnormality of retinal pigmentation, Abnormal optic disc morphology ORPHA:65
Oculocutaneous Albinism Type 4
Hypoplasia of the fovea, Abnormality of retinal pigmentation, Hypopigmentation of hair, Albinism,... ORPHA:79435
Laurence-Moon Syndrome
Pigmentary retinopathy, Chorioretinal atrophy OMIM:245800
Agammaglobulinemia 4, Autosomal Recessive
Recurrent pneumonia, Agammaglobulinemia, Decreased circulating total IgM, Protein-losing enteropa... OMIM:613502
Åland Islands Eye Disease
Hypoplasia of the fovea, Myopia, Difficulty adjusting from light to dark, Reduced visual acuity, ... ORPHA:178333
Optic Atrophy 1
Central scotoma, Red-green dyschromatopsia, Optic atrophy, Reduced visual acuity, Centrocecal sco... OMIM:165500
Combined Hamartoma Of The Retina And Retinal Pigment Epithelium
Blindness, Reduced visual acuity, Abnormal optic disc morphology, Vitreoretinopathy, Retinal vasc... ORPHA:440727
Bleeding Disorder, Platelet-Type, 12
Impaired platelet aggregation OMIM:605735
Hsd10 Mitochondrial Disease
Optic atrophy, Cerebral cortical atrophy, Retinal degeneration OMIM:300438
Cataract 50 With Or Without Glaucoma
Retinal detachment OMIM:620253
Jalili Syndrome
Abnormality of retinal pigmentation, Optic atrophy ORPHA:1873
Bernard-Soulier Syndrome
Prolonged bleeding time, Impaired ristocetin-induced platelet aggregation, Giant platelets, Macro... OMIM:231200
Renal, Genital, And Middle Ear Anomalies
Vaginal atresia OMIM:267400
Coloboma Of Macula
Macular coloboma OMIM:120300
Retinitis Pigmentosa 75
Myopia, Bone spicule pigmentation of the retina, Nyctalopia, Peripheral visual field loss, Rod-co... OMIM:617023
Poretti-Boltshauser Syndrome
Retinal thinning, Retinal atrophy, Retinal dystrophy OMIM:615960
Cone-Rod Dystrophy 19
Cone/cone-rod dystrophy, Perifoveal ring of hyperautofluorescence, Reduced visual acuity, High my... OMIM:615860
Optic Pathway Glioma
Papilledema, Blindness, Precocious puberty, Visual loss, Optic atrophy, Reduced visual acuity, Vi... ORPHA:2086
Vitreoretinochoroidopathy
Retinal detachment, Blindness, Nyctalopia, Retinal arteriolar occlusion, Pigmentary retinopathy, ... OMIM:193220
Stickler Syndrome, Type I, Nonsyndromic Ocular
Optically empty vitreous, Rhegmatogenous retinal detachment OMIM:609508
Myopia 3, Autosomal Dominant
Retinal detachment OMIM:603221
Myopia 25, Autosomal Dominant
Retinal detachment OMIM:617238
Myopia 2, Autosomal Dominant
Retinal detachment OMIM:160700
Myopia 5, Autosomal Dominant
Retinal detachment OMIM:608474
Joubert Syndrome 28
Optic disc pallor, Pigmentary retinopathy OMIM:617121
Ras-Associated Autoimmune Leukoproliferative Disorder
Hemolytic anemia, Pancytopenia, Hepatomegaly, Autoimmunity, Autoimmune thrombocytopenia, Splenome... OMIM:614470
Sjögren-Larsson Syndrome
Retinopathy, Macular degeneration, Generalized hyperpigmentation, Abnormality of retinal pigmenta... ORPHA:816
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome
Retinal detachment, Congenital blindness, Hepatic steatosis ORPHA:436182
Von Willebrand Disease, Type 3
Prolonged bleeding time, Impaired platelet aggregation, Thrombocytopenia OMIM:277480
Heimler Syndrome 1
Macular dystrophy, Retinal pigment epithelial mottling OMIM:234580
Developmental And Epileptic Encephalopathy 28
Cerebral atrophy, Optic atrophy, Retinal degeneration OMIM:616211
Night Blindness, Congenital Stationary, Type 1B
Myopia, Bone spicule pigmentation of the retina, Nyctalopia, Hemeralopia, Congenital stationary n... OMIM:257270
Scheie Syndrome
Retinal degeneration OMIM:607016
Eales Disease
Peripheral retinal neovascularization, Blindness, Rhegmatogenous retinal detachment, Optic disc p... ORPHA:40923
Coats Disease
Abnormal retinal vascular morphology, Retinal detachment, Abnormal macular morphology ORPHA:190
Optic Atrophy 7 With Or Without Auditory Neuropathy
Optic disc pallor, Constriction of peripheral visual field, Central scotoma, Optic atrophy, Reduc... OMIM:612989
Spastic Paraplegia 82, Autosomal Recessive
Optic atrophy, Reduced visual acuity, Cerebral atrophy OMIM:618770
Immunodeficiency 81
Decreased proportion of CD4-positive T cells, Recurrent cutaneous abscess formation, Autoimmune h... OMIM:619374
Severe Early-Childhood-Onset Retinal Dystrophy
Bone spicule pigmentation of the retina, Rhegmatogenous retinal detachment, Photophobia, Retinal ... ORPHA:364055
Blepharoptosis-Myopia-Ectopia Lentis Syndrome
Abnormality of retinal pigmentation ORPHA:1259
Immunodeficiency 64 With Lymphoproliferation
Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of CD4-pos... OMIM:618534
Tricho-Retino-Dento-Digital Syndrome
Abnormality of retinal pigmentation ORPHA:1264
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Decreased proportion of CD4-positive T cells, Autoimmune thrombocytopenia, Splenomegaly, Decrease... OMIM:300853
Ring Chromosome 14 Syndrome
Pigmentary retinopathy OMIM:616606
Cofs Syndrome
Abnormality of retinal pigmentation, Optic atrophy, Cerebral cortical atrophy ORPHA:1466
Stickler Syndrome Type 2
Retinal detachment, Retinopathy, Abnormal vitreous humor morphology ORPHA:90654
T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy
T lymphocytopenia, Decreased helper T cell proportion OMIM:601705
Retinitis Pigmentosa 23
Rod-cone dystrophy, Retinal pigment epithelial atrophy, Absent foveal reflex, Attenuation of reti... OMIM:300424
Ceroid Lipofuscinosis, Neuronal, 10
Cerebellar atrophy, Retinal atrophy, Increased neuronal autofluorescent lipopigment, Rod-cone dys... OMIM:610127
Hypotrichosis With Juvenile Macular Degeneration
Macular degeneration, Freckling, Abnormality of macular pigmentation, Melanocytic nevus ORPHA:1573
Hermansky-Pudlak Syndrome 9
Abnormal platelet aggregation, Thrombocytopenia OMIM:614171
Hermansky-Pudlak Syndrome 3
Impaired platelet aggregation, Abnormal number of dense granules OMIM:614072
Retinal Dystrophy With Or Without Macular Staphyloma
Bone spicule pigmentation of the retina, Retinal dystrophy, Central scotoma, Nyctalopia, Retinal ... OMIM:617547
Sjogren-Larsson Syndrome
Macular crystals, Retinal pigment epithelial atrophy, Retinal thinning, Macular degeneration, Mac... OMIM:270200
Bardet-Biedl Syndrome 9
Bone spicule pigmentation of the retina, Rod-cone dystrophy, Retinal degeneration, Attenuation of... OMIM:615986
Alpha-Methylacyl-Coa Racemase Deficiency
Constriction of peripheral visual field, Hypergonadotropic hypogonadism, Pigmentary retinopathy, ... OMIM:614307
Spastic Paraplegia 11, Autosomal Recessive
Macular degeneration, Cerebral cortical atrophy, Retinal degeneration, Degeneration of the latera... OMIM:604360
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8
Retinal dysplasia OMIM:614830
Peroxisomal Acyl-Coa Oxidase Deficiency
Pigmentary retinopathy, Rod-cone dystrophy, Optic atrophy OMIM:264470
Immunodeficiency 85 And Autoimmunity
Decreased circulating IgG level, Eczema, Oligoarthritis, T lymphocytopenia, Decreased circulating... OMIM:619510
Immunodeficiency 76
Splenomegaly, Recurrent pneumonia, T lymphocytopenia, Colitis, B lymphocytopenia, Lymphopenia OMIM:619164
Birt-Hogg-Dubé Syndrome
Abnormality of retinal pigmentation ORPHA:122
Night Blindness-Skeletal Anomalies-Dysmorphism Syndrome
Abnormal retinal vascular morphology, Abnormality of retinal pigmentation, Heterochromia iridis ORPHA:1390
Cone-Rod Synaptic Disorder Syndrome, Congenital Nonprogressive
Photophobia, Optic disc pallor, Retinal thinning, Reduced visual acuity OMIM:618970
Eosinophilopenia
Decreased eosinophil count, Autoimmunity, Allergic rhinitis OMIM:131430
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Hemolytic anemia, Acute pancreatitis, Rheumatoid factor positive, Abscess, Eczema, Perianal absce... OMIM:618935
Birdshot Chorioretinopathy
Retinal pigment epithelial atrophy, Abnormal chorioretinal morphology, Vitritis, Vitreous floaters OMIM:605808
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Eosinophilia, Autoimmune thrombocytopenia, Increased circulating IgA level, Decreased proportion ... ORPHA:169154
Choroidal Atrophy-Alopecia Syndrome
Abnormality of retinal pigmentation, Patchy atrophy of the retinal pigment epithelium ORPHA:1433
Night Blindness, Congenital Stationary, Type 1E
Congenital stationary night blindness, Reduced visual acuity, Visual impairment, High myopia OMIM:614565
Bleeding Disorder, Platelet-Type, 17
Prolonged bleeding time, Macrothrombocytopenia, Absence of alpha granules, Impaired collagen-indu... OMIM:187900
Microcephaly-Cleft Palate-Abnormal Retinal Pigmentation Syndrome
Abnormality of retinal pigmentation ORPHA:2521
Fbln1-Related Developmental Delay-Central Nervous System Anomaly-Syndactyly Syndrome
Macular degeneration, Choroidal neovascularization, Cerebral cortical atrophy ORPHA:404451
X-Linked Neurodegenerative Syndrome, Hamel Type
Blindness ORPHA:85336
Immunodeficiency By Defective Expression Of Mhc Class Ii
Pancytopenia, Autoimmune hemolytic anemia, Sinusitis, Autoimmunity, Chronic hepatitis due to cryp... ORPHA:572
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Hepatomegaly, Splenomegaly, Pancreatic lymphangiectasis, Cryptorchidism, Pulmonary lymphangiectas... ORPHA:1655
Oculocutaneous Albinism Type 1
Hypoplasia of the fovea, White eyelashes, White eyebrow, Blue irides, Depigmented fundus, Iris tr... ORPHA:352731
Blindness-Scoliosis-Arachnodactyly Syndrome
Retinal detachment, Abnormality of retinal pigmentation ORPHA:171844
Leber Congenital Amaurosis 15
Attenuation of retinal blood vessels, Myopia, Optic disc pallor, Constriction of peripheral visua... OMIM:613843
Waardenburg-Shah Syndrome
Abnormality of retinal pigmentation, Hypopigmentation of hair, White eyelashes, White eyebrow, Ag... ORPHA:897
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To
Acute myeloid leukemia, Refractory anemia, Eczema, Systemic lupus erythematosus, Leukopenia, Mono... OMIM:616871
Diarrhea 7, Protein-Losing Enteropathy Type
Villous atrophy, Hyperlipidemia, Protein-losing enteropathy, Hypoalbuminemia, Hypercholesterolemia OMIM:615863
Early-Onset X-Linked Optic Atrophy
Optic disc pallor, Decreased nerve conduction velocity, Central scotoma, Optic atrophy, Reduced v... ORPHA:98890
Long Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Hepatomegaly, Myopia, Abnormality of retinal pigmentation, Abnormal chorioretinal morphology, Vis... ORPHA:5
Chilblain Lupus
Inflammatory abnormality of the skin, Antiphospholipid antibody positivity, Rheumatoid factor pos... ORPHA:90280
Myopia 28, Autosomal Recessive
Retinal detachment OMIM:619781
Leukodystrophy, Hypomyelinating, 14
Cerebellar atrophy, Blindness, Cerebral atrophy OMIM:617899
C1Q Deficiency 1
Autoimmunity, Systemic lupus erythematosus OMIM:613652
Congenital Pancreatic Cyst
Jaundice, Pancreatitis ORPHA:313906
Ataxia With Vitamin E Deficiency
Abnormality of visual evoked potentials, Abnormality of retinal pigmentation ORPHA:96
Cone-Rod Dystrophy And Hearing Loss 1
Macular degeneration, Retinal atrophy OMIM:617236
Complement Component C1S Deficiency
Hepatitis, Hashimoto thyroiditis, Systemic lupus erythematosus OMIM:613783
Exudative Vitreoretinopathy 6
Retinal detachment, Tractional retinal detachment, Patchy atrophy of the retinal pigment epitheli... OMIM:616468
Complement Component C1R/C1S Deficiency
Discoid lupus rash, Arthritis, Nephritis, Autoimmunity OMIM:216950
Usher Syndrome Type 1
Scotoma, Visual loss, Nyctalopia, Subcortical cerebral atrophy, Hemianopia, High hypermetropia, C... ORPHA:231169
Bietti Crystalline Corneoretinal Dystrophy
Constriction of peripheral visual field, Chorioretinal atrophy, Reduced visual acuity, High myopi... OMIM:210370
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2
Cerebellar atrophy, Optic disc pallor, Macular atrophy, Optic atrophy, Cerebral atrophy, Retinopathy OMIM:616171
Immunodeficiency 11A
Decreased proportion of CD4+CD25+ regulatory T cells, Decreased circulating antibody level, Agamm... OMIM:615206
Cerebral Sclerosis, Diffuse, Scholz Type
Blindness OMIM:302700
Immunodeficiency 52
Decreased proportion of CD4-positive T cells, Autoimmune thrombocytopenia, Splenomegaly, Increase... OMIM:617514
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis
Cerebellar atrophy, Optic disc pallor, Macular coloboma, Macular atrophy, Abnormal auditory evoke... OMIM:619260
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Decreased circulating IgG level, Pancytopenia, Decreased lymphocyte proliferation in response to ... OMIM:618986
Spastic Paraplegia 81, Autosomal Recessive
Retinal vascular tortuosity, Optic atrophy, Reduced visual acuity, Cerebral visual impairment OMIM:618768
Ramon Syndrome
Abnormality of retinal pigmentation ORPHA:3019
Enhanced S-Cone Syndrome
Pigmentary retinopathy, Retinoschisis, Vitreoretinopathy, Macular edema OMIM:268100
Thiamine-Responsive Megaloblastic Anemia Syndrome
Cone/cone-rod dystrophy, Optic atrophy, Retinal degeneration OMIM:249270
Oculocutaneous Albinism Type 1B
Hypoplasia of the fovea, Abnormality of retinal pigmentation, Hypopigmentation of hair, Albinism,... ORPHA:79434
Retinal Dystrophy And Iris Coloboma With Or Without Cataract
Retinal atrophy OMIM:616722
Tetraamelia-Multiple Malformations Syndrome
Cryptorchidism, Septo-optic dysplasia, Optic atrophy, Vaginal atresia ORPHA:3301
Inflammatory Bowel Disease (Crohn Disease) 30
Gastritis, Duodenitis, Pancolitis, Abnormal intestine morphology, Protein-losing enteropathy, Eso... OMIM:619079
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)
T lymphocytopenia DECIPHER:16
T-Cell Immunodeficiency With Thymic Aplasia
Aplasia of the thymus, Recurrent pneumonia, Bronchiectasis, Hepatosplenomegaly, T lymphocytopenia... OMIM:242700
Multiple Intestinal Atresia
Gastrointestinal atresia, Duodenal stenosis ORPHA:2300
Autoimmune Lymphoproliferative Syndrome, Type Iia
Rheumatoid factor positive, Iron deficiency anemia, Increased circulating IgG level, Platelet ant... OMIM:603909
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy
Hypoproteinemia, Small bowel diverticula, Fat malabsorption, Jejunoileal ulceration OMIM:221400
Renal Hypodysplasia/Aplasia 1
Bicornuate uterus, Vaginal atresia, Primary amenorrhea OMIM:191830
Hermansky-Pudlak Syndrome 7
Prolonged bleeding time, Impaired platelet aggregation OMIM:614076
Caspase 8 Deficiency
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... OMIM:607271
Congenital Toxoplasmosis
Hepatomegaly, Abnormality of retinal pigmentation, Cardiomegaly, Thrombocytopenia, Jaundice, Lymp... ORPHA:858
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant
Increased mean platelet volume, Thrombocytopenia, Impaired ADP-induced platelet aggregation, Impa... OMIM:153670
Optic Atrophy 8
Abnormality of pattern visual evoked potentials, Optic atrophy, Prolonged somatosensory evoked po... OMIM:616648
Idiopathic Panuveitis
Blindness, Choroidal neovascularization, Vitreous haze, Vitreous floaters, Epiretinal membrane, R... ORPHA:280921
Albinism, Oculocutaneous, Type Ii
Hypoplasia of the fovea, Myopia, Hypopigmentation of hair, Freckles in sun-exposed areas, Albinis... OMIM:203200
Aceruloplasminemia
Retinal degeneration OMIM:604290
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency
Hepatomegaly, Glomerulonephritis, Decreased proportion of marginal zone B cells, Autoimmune throm... OMIM:619375
Night Blindness, Congenital Stationary, Type 1C
Congenital stationary night blindness, Myopia, Reduced visual acuity OMIM:613216
Cerebellar Ataxia-Hypogonadism Syndrome
Abnormality of retinal pigmentation, Optic atrophy ORPHA:1173
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Cerebellar atrophy, Abnormality of retinal pigmentation, Hypergonadotropic hypogonadism, Cryptorc... ORPHA:3085
Juvenile Paget Disease
Abnormality of retinal pigmentation, Optic atrophy, Melanocytic nevus ORPHA:2801
Posterior Column Ataxia With Retinitis Pigmentosa
Blindness, Ring scotoma, Bone spicule pigmentation of the retina, Decreased sensory nerve conduct... OMIM:609033
Autoinflammatory Disease, Familial, Behcet-Like 3
Ileitis OMIM:618287
Cortical Dysplasia, Complex, With Other Brain Malformations 6
Retinal dysplasia OMIM:615771
Alg6-Cdg
Rod-cone dystrophy, Retinal degeneration ORPHA:79320
Immunodeficiency, Common Variable, 1
Hepatomegaly, Impaired T cell function, Pneumonia, Splenomegaly, Recurrent pneumonia, Neutropenia... OMIM:607594
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
Impaired lymphocyte transformation with phytohemagglutinin, Absent natural killer cells, Decrease... OMIM:600802
Diarrhea 5, With Tufting Enteropathy, Congenital
Arthritis, Villous atrophy, Crypt hyperplasia OMIM:613217
Achromatopsia 2
Hypoplasia of the fovea, Retinal thinning, Nyctalopia, Reduced visual acuity, Absent foveal refle... OMIM:216900
Immunodeficiency 70
Decreased circulating total IgG, Furuncle, Decreased circulating antibody level, Decreased circul... OMIM:618969
Hypobetalipoproteinemia, Familial, 1
Rod-cone dystrophy, Retinal degeneration OMIM:615558
Night Blindness, Congenital Stationary, Type1I
Tritanomaly, Nyctalopia OMIM:618555
Wolfram Syndrome, Mitochondrial Form
Sideroblastic anemia, Blindness, Megaloblastic anemia, Optic atrophy, Abnormal autonomic nervous ... OMIM:598500
Juvenile Arthritis
Antinuclear antibody positivity, Thrombocytosis, Leukocytosis, Skin rash OMIM:618795
Mitochondrial Complex I Deficiency, Nuclear Type 11
Pigmentary retinopathy OMIM:618234
Mckusick-Kaufman Syndrome
Aganglionic megacolon, Cryptorchidism, Transverse vaginal septum, Hydrometrocolpos, Rectovaginal ... OMIM:236700
Juvenile Neuronal Ceroid Lipofuscinosis
Cerebellar atrophy, Optic disc pallor, Cerebral atrophy, Pigmentary retinopathy, Retinal degenera... ORPHA:79264
Agammaglobulinemia 7, Autosomal Recessive
Erythema nodosum, Agammaglobulinemia, Neutropenia, Reduced natural killer cell count, Panhypogamm... OMIM:615214
Stickler Syndrome, Type V
Retinal detachment, Vitreoretinopathy OMIM:614284
Bardet-Biedl Syndrome 17
Cone/cone-rod dystrophy, Bone spicule pigmentation of the retina, Macular atrophy, Rod-cone dystr... OMIM:615994
Retinitis Pigmentosa-Juvenile Cataract-Short Stature-Intellectual Disability Syndrome
Undetectable visual evoked potentials, Patchy atrophy of the retinal pigment epithelium, Rod-cone... ORPHA:436245
Cln3 Disease
Cerebellar atrophy, Blindness, Bull's eye maculopathy, Amblyopia, Vacuolated lymphocytes, Optic a... ORPHA:228346
Ataxia-Intellectual Disability-Oculomotor Apraxia-Cerebellar Cysts Syndrome
Retinal atrophy, Retinal dystrophy ORPHA:370022
Systemic Lupus Erythematosus
Hemolytic anemia, Pericarditis, Antiphospholipid antibody positivity, Lupus nephritis, Antinuclea... OMIM:152700
Osteoporosis-Pseudoglioma Syndrome
Retinal detachment, Moderately reduced visual acuity, Isosexual precocious puberty, Visual acuity... ORPHA:2788
Neovascular Glaucoma
Retinal detachment, Abnormal posterior eye segment morphology, Retinal vascular proliferation, Vi... ORPHA:94058
3-Methylglutaconic Aciduria, Type Iii
Optic atrophy, Reduced visual acuity, Visual impairment OMIM:258501
Immunodeficiency 68
Recurrent skin infections, Abscess, Lymphadenitis, T lymphocytopenia, B lymphocytopenia, Septic a... OMIM:612260
Night Blindness, Congenital Stationary, Type 1H
Hypermetropia, Photophobia, Nyctalopia, Mild myopia OMIM:617024
Combined Immunodeficiency Due To Dock8 Deficiency
Recurrent bacterial skin infections, Pneumonia, Increased circulating IgE level, Atopic dermatiti... ORPHA:217390
Oculocutaneous Albinism Type 2
Hypoplasia of the fovea, Abnormality of retinal pigmentation, Hypopigmentation of hair, White eye... ORPHA:79432
Retinal Dystrophy With Or Without Extraocular Anomalies
Premature ovarian insufficiency, Retinal dystrophy, Reduced visual acuity, Secondary amenorrhea OMIM:617175
Usher Syndrome Type 3
Scotoma, Visual loss, Nyctalopia, Hemianopia, High hypermetropia, Iris hypopigmentation ORPHA:231183
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Decreased circulating IgG level, Hepatomegaly, Abnormal B cell count, Abnormal T cell count, Auto... ORPHA:331206
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias
Absent specific antibody response, Decreased proportion of CD4+CD25+ regulatory T cells, Autoimmu... OMIM:619846
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy
Abnormal auditory evoked potentials, Central scotoma, Red-green dyschromatopsia, Optic atrophy, R... OMIM:125250
Combined Saposin Deficiency
Splenomegaly, Hepatomegaly, Neuronal loss in central nervous system, Optic atrophy OMIM:611721
Spastic Paraplegia 15, Autosomal Recessive
Macular degeneration, Retinal degeneration OMIM:270700
Mucous Membrane Pemphigoid
Blindness ORPHA:46486
Corpus Callosum Agenesis-Neuronopathy Syndrome
Abnormality of retinal pigmentation ORPHA:1496
Migraine, Familial Hemiplegic, 3
Photophobia, Blindness OMIM:609634
Leber Congenital Amaurosis 3
Visual loss, Nyctalopia, Constriction of peripheral visual field OMIM:604232
Atypical Pantothenate Kinase-Associated Neurodegeneration
Retinopathy, Blindness, Optic atrophy ORPHA:216873
Meacham Syndrome
Hypoplasia of penis, Cryptorchidism, Abnormality of the spleen, Hydrometrocolpos, Abnormal fallop... ORPHA:3097
Retinitis Pigmentosa And Erythrocytic Microcytosis
Myopia, Optic disc pallor, Ring scotoma, Retinal atrophy, Retinal pigment epithelial atrophy, Ani... OMIM:616959
Night Blindness, Congenital Stationary, Type 2A
Congenital stationary night blindness, Reduced visual acuity, Visual impairment OMIM:300071
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome
Eczema, Decreased proportion of CD8-positive T cells, Increased circulating IgE level, Increased ... OMIM:617241
Alpha-Heavy Chain Disease
Abnormal small intestine morphology, Hypocalcemia, Dysgammaglobulinemia, Malabsorption ORPHA:100025
Neonatal Adrenoleukodystrophy
Abnormality of retinal pigmentation, Optic atrophy ORPHA:44
Cach Syndrome
Cerebellar atrophy, Blindness, Premature ovarian insufficiency, Optic atrophy, Cerebral atrophy, ... ORPHA:135
Behr Syndrome
Cerebellar atrophy, Blindness, Optic atrophy, Cerebellar vermis atrophy, Hypoplastic optic chiasm... OMIM:210000
Immunodeficiency, Common Variable, 2
Hepatomegaly, Impaired T cell function, Autoimmunity, Splenomegaly, Recurrent pneumonia, Bronchie... OMIM:240500
Corneal Dystrophy, Gelatinous Drop-Like
Photophobia, Reduced visual acuity, Visual impairment, Blurred vision OMIM:204870
Aland Island Eye Disease
Hypoplasia of the fovea, Myopia, Severely reduced visual acuity, Albinism OMIM:300600
Mitochondrial Complex Iv Deficiency, Nuclear Type 15
Pigmentary retinopathy, Brain atrophy OMIM:619059
Oculopharyngodistal Myopathy 3
Pigmentary retinopathy OMIM:619473
Lipase Deficiency, Combined
Pancreatitis OMIM:246650
Hermansky-Pudlak Syndrome 5
Prolonged bleeding time, Absent platelet dense granules, Impaired ADP-induced platelet aggregatio... OMIM:614074
Leukoencephalopathy With Vanishing White Matter 1
Blindness, Premature ovarian insufficiency, Optic atrophy, Primary amenorrhea, Secondary amenorrhea OMIM:603896
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Impaired platelet aggregation, Bone marrow hypocellularity, Thrombocytopenia OMIM:300835
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type
Retinal pigment epithelial mottling, Retinopathy OMIM:219900
Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, And Migraine Headache Syndrome
Visual loss, Splenomegaly, Pancytopenia, Cone/cone-rod dystrophy OMIM:614979
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency
Impaired lymphocyte transformation with phytohemagglutinin, Decreased circulating IgG level, Abse... ORPHA:35078
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Hepatomegaly, Autoimmune hemolytic anemia, Autoimmunity, Lymphocytic interstitial pneumonia, Sple... OMIM:618495
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia
Macrocytic anemia, Pancytopenia, Autoimmunity, Anemia of inadequate production, Megaloblastic ane... OMIM:617780
Vitamin B12-Unresponsive Methylmalonic Acidemia
Hepatomegaly, Macrocytic anemia, Anemia, Leukopenia, Pancreatitis, Thrombocytopenia ORPHA:27
Pgm3-Cdg
Rheumatoid factor positive, Abnormal CD4:CD8 ratio, Leukopenia, T lymphocytopenia, Increased circ... ORPHA:443811
Retinitis Pigmentosa, Deafness, Mental Retardation, And Hypogonadism
Cerebellar atrophy, Pigmentary retinopathy, Rod-cone dystrophy, Cerebral atrophy OMIM:268020
Diabetes Mellitus, Ketosis-Prone
Beta-cell dysfunction, Autoimmunity OMIM:612227
Visceral Myopathy 2
Necrotizing enterocolitis, Intestinal obstruction, Intestinal pseudo-obstruction, Intestinal malr... OMIM:619350
Senior-Loken Syndrome 9
Macular degeneration, Rod-cone dystrophy, Retinal dystrophy OMIM:616629
Insulin Autoimmune Syndrome
Arthralgia/arthritis, Autoimmunity, Autoimmune antibody positivity, Systemic lupus erythematosus,... ORPHA:411593
Refsum Disease, Classic
Rod-cone dystrophy, Retinal degeneration OMIM:266500
Autosomal Dominant Optic Atrophy Plus Syndrome
Absent brainstem auditory responses, Optic atrophy, Abnormal retinal nerve fiber layer morphology... ORPHA:1215
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Hepatomegaly, Anemia, Neutropenia, Pancreatitis, Thrombocytopenia ORPHA:289916
Osteopetrosis, Autosomal Recessive 8
Hepatomegaly, Facial palsy, Splenomegaly, Visual loss, Optic atrophy, Anemia, Thrombocytopenia OMIM:615085
Congenital Muscular Dystrophy With Intellectual Disability
Pigmentary retinopathy, Cerebral cortical atrophy, Facial palsy ORPHA:370968
Jeune Syndrome
Abnormality of retinal pigmentation ORPHA:474
Retinitis Pigmentosa 74
Optic disc pallor, Rod-cone dystrophy, Pigmentary retinopathy OMIM:616562
Transcobalamin Deficiency
Lymphopenia, Pancytopenia, Decreased circulating antibody level, Decreased circulating total IgM,... ORPHA:859
Severe Canavan Disease
Blindness, Optic atrophy ORPHA:314911
Idiopathic Uveal Effusion Syndrome
Metamorphopsia, Reduced visual acuity, Subretinal fluid, Visual field defect, Exudative retinal d... ORPHA:209956
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Septate vagina, Uterus didelphys, Aplasia of the uterus, Rod-cone dystrophy, Vaginal atresia ORPHA:2237
Immunodeficiency 36 With Lymphoproliferation
Decreased circulating IgG level, Autoimmunity, Splenomegaly, Bronchiectasis, Chronic lymphatic le... OMIM:616005
Late Infantile Neuronal Ceroid Lipofuscinosis
Cerebellar atrophy, Corpus callosum atrophy, Abnormal amplitude of flash visual evoked potentials... ORPHA:168491
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia
Decreased circulating total IgM, Decreased circulating IgG level, B lymphocytopenia, Abnormally l... OMIM:618987
Cancer-Associated Retinopathy
Vitritis, Photophobia, Prostate cancer, Pancreatic adenocarcinoma, Retinal atrophy, Thymoma, Para... ORPHA:71505
Desmoid Tumor
Abnormality of retinal pigmentation ORPHA:873
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Hepatomegaly, Splenomegaly, Anemia, Neutropenia, Pancreatitis, Thrombocytopenia ORPHA:79312
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11
Retinal detachment, Myopia, Blindness, Optic nerve hypoplasia OMIM:615181
Hsd10 Disease, Infantile Type
Diffuse cerebral atrophy, Optic atrophy, Cerebral atrophy, Frontotemporal cerebral atrophy, Neuro... ORPHA:391428
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome
Retinal dysplasia ORPHA:324416
Autosomal Recessive Spastic Paraplegia Type 15
Pigmentary retinopathy, Retinal flecks, Yellow/white lesions of the retina ORPHA:100996
Meckel Syndrome 12
Hypoplasia of the uterus, Vaginal atresia OMIM:616258
Pancreatic Lipase Deficiency
Fat malabsorption, Hypocholesterolemia, Steatorrhea OMIM:614338
Autosomal Recessive Chorioretinopathy-Microcephaly Syndrome
Abnormality of retinal pigmentation, Optic atrophy, Cerebral cortical atrophy ORPHA:2518
Mucolipidosis Type Iv
Abnormality of retinal pigmentation, Retinopathy ORPHA:578
Non-Specific Early-Onset Epileptic Encephalopathy
Cerebral atrophy, Optic atrophy, Brain atrophy, Retinal degeneration ORPHA:442835
Congenital Primary Aphakia
Retinal dysplasia ORPHA:83461
Adult-Onset Chronic Progressive External Ophthalmoplegia With Mitochondrial Myopathy
Pigmentary retinopathy ORPHA:329336
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome
Streak ovary, Abnormality of female external genitalia, Testicular dysgenesis, Primary amenorrhea... ORPHA:168563
Autoimmune Lymphoproliferative Syndrome, Type Iii
Increased proportion autoreactive unresponsive CD21-/low B cells, Hepatomegaly, Autoimmune hemoly... OMIM:615559
Mitochondrial Dna Depletion Syndrome 20 (Mngie Type)
Cerebellar atrophy, Macular degeneration OMIM:619780
Familial Partial Lipodystrophy, Köbberling Type
Hepatomegaly, Hepatic steatosis, Pancreatitis ORPHA:79084
Autoinflammatory Syndrome, Familial, Behcet-Like 1
Hemolytic anemia, Anterior uveitis, Skin rash, Antinuclear antibody positivity, Colitis, Lupus an... OMIM:616744
Neurocutaneous Melanocytosis
Abnormality of retinal pigmentation, Generalized hyperpigmentation, Numerous congenital melanocyt... ORPHA:2481
Foveal Hypoplasia 2
Hypoplasia of the fovea, Reduced visual acuity, Foveal hyperpigmentation, Optic nerve misrouting OMIM:609218
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency
Autoimmunity, Eczema, Abnormal immunoglobulin level, Increased T cell count, Increased circulatin... ORPHA:98813
Neurodevelopmental Disorder With Seizures And Brain Abnormalities
Retinal pigment epithelial mottling OMIM:619517
Von Willebrand Disease, Type 1
Prolonged bleeding time, Impaired platelet aggregation OMIM:193400
Hereditary Chronic Pancreatitis
Leukocytosis, Recurrent pancreatitis, Pancreatic calcification, Jaundice ORPHA:676
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome
Retinal degeneration ORPHA:542306
Lymphoproliferative Syndrome 1
Hepatomegaly, Pancytopenia, Autoimmune hemolytic anemia, Stomatitis, Autoimmunity, Autoimmune thr... OMIM:613011
Mahvash Disease
Recurrent pancreatitis, Pancreatic alpha-cell hyperplasia OMIM:619290
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Hemolytic anemia, Autoimmune hemolytic anemia, Psoriasiform dermatitis, Decreased proportion of C... OMIM:606367
Chylous Ascites
Pancreatitis ORPHA:1160
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy
Retinal detachment, Retinal dystrophy, Macular atrophy, Chorioretinal coloboma OMIM:212550
Mitochondrial Complex Ii Deficiency, Nuclear Type 1
Pigmentary retinopathy, Optic atrophy OMIM:252011
Severe Combined Immunodeficiency Due To Dclre1C Deficiency
Skin rash, Autoimmunity, Recurrent aphthous stomatitis, Otitis media, Chronic oral candidiasis, D... ORPHA:275
Krabbe Disease
Blindness, Diffuse cerebral atrophy, Autoimmune thrombocytopenia, Decreased nerve conduction velo... OMIM:245200
Unclassified Myelodysplastic Syndrome
Acute myeloid leukemia, Leukocytosis, Autoimmunity, Bone marrow hypocellularity ORPHA:98827
Gallbladder Disease 1
Cholangitis, Portal inflammation, Jaundice, Cholestasis, Hepatic fibrosis, Cholecystitis, Bile du... OMIM:600803
Retinitis Pigmentosa 82 With Or Without Situs Inversus
Optic disc pallor, Rod-cone dystrophy, Macular atrophy OMIM:615434
Zika Virus Disease
Optic disc hypoplasia, Macular atrophy, Retinal pigment epithelial mottling, Chorioretinal atroph... ORPHA:448237
Triokinase And Fmn Cyclase Deficiency Syndrome
Hepatomegaly, Hepatic steatosis, Pancreatitis, Microcytic anemia OMIM:618805
Usher Syndrome
Myopia, Blindness, Abnormality of retinal pigmentation, Nyctalopia, Decreased fertility, Visual f... ORPHA:886
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome
Rod-cone dystrophy, Abnormality of pattern visual evoked potentials, Cafe-au-lait spot, Cerebral ... ORPHA:166035
Albinism, Ocular, Type I
Hypoplasia of the fovea, Ocular albinism, Reduced visual acuity, Depigmented fundus, Photophobia,... OMIM:300500
Immunodeficiency 40
Hepatomegaly, Recurrent pneumonia, Eosinophilic granuloma, T lymphocytopenia, Interstitial pneumo... OMIM:616433
Complement Component 2 Deficiency
Systemic lupus erythematosus OMIM:217000
Congenital Bile Acid Synthesis Defect Type 1
Hepatomegaly, Splenomegaly, Jaundice, Nyctalopia, Biliary tract abnormality, Cirrhosis, Neonatal ... ORPHA:79301
Cataract 11, Multiple Types
Blindness OMIM:610623
Cholestasis, Benign Recurrent Intrahepatic, 1
Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Pancreatitis, Intermittent jaundice OMIM:243300
Acute Lung Injury
Acute pancreatitis, Increased circulating interleukin 6 concentration, Pneumonia, Elevated circul... ORPHA:178320
Infantile Refsum Disease
Hepatomegaly, Constriction of peripheral visual field, Facial palsy, Nyctalopia, Optic atrophy, R... ORPHA:772
Activated Pi3K-Delta Syndrome
Hepatomegaly, Autoimmunity, Pneumonia, Splenomegaly, Bronchiectasis, Decreased circulating antibo... ORPHA:397596
Pyruvate Dehydrogenase E2 Deficiency
Neurodegeneration, Retinal degeneration ORPHA:79244
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Decreased circulating IgG level, Lymphopenia, Hepatomegaly, Decreased proportion of naive T cells... ORPHA:276
Cataract 21, Multiple Types
Retinal detachment, Macular hypoplasia OMIM:610202
Sarcosinemia
Congenital blindness, Optic atrophy ORPHA:3129
Eosinophilic Gastroenteritis
Abnormality of the gastrointestinal tract, Allergic rhinitis, Elevated circulating C-reactive pro... ORPHA:2070
Double Uterus-Hemivagina-Renal Agenesis Syndrome
Dyspareunia, Partial vaginal septum, Metrorrhagia, Abnormal uterine cervix morphology, Dysmenorrh... ORPHA:3411
Hermansky-Pudlak Syndrome 6
Prolonged bleeding time, Impaired ADP-induced platelet aggregation, Abnormal platelet granules OMIM:614075
Joubert Syndrome 6
Retinal degeneration, Chorioretinal coloboma OMIM:610688
Cerebellar Ataxia, Areflexia, Pes Cavus, Optic Atrophy, And Sensorineural Hearing Loss
Blindness, Visual loss, Optic atrophy, Progressive visual loss, Visual impairment OMIM:601338
Immunodeficiency 17
Autoimmune hemolytic anemia, Eczema, Decreased proportion of CD8-positive T cells, Chronic decrea... OMIM:615607
Osteopetrosis, Autosomal Recessive 4
Reticulocytosis, Hepatomegaly, Optic disc pallor, Facial palsy, Splenomegaly, Thrombocytopenia, O... OMIM:611490
Oculocutaneous Albinism Type 5
Hypoplasia of the fovea, Ocular albinism, Reduced visual acuity, Abnormal fundus morphology, Phot... ORPHA:370091
Cataract, Congenital, With Mental Impairment And Dentate Gyrus Atrophy
Blindness OMIM:607674
Adult-Onset Autosomal Recessive Cerebellar Ataxia
Cerebellar atrophy, Macular degeneration ORPHA:284289
Oculocutaneous Albinism Type 1A
Hypoplasia of the fovea, Hypopigmentation of hair, Albinism, Ocular albinism, Abnormal optic nerv... ORPHA:79431
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis
Hypoplastic labia majora, Vaginal atresia, Fused labia minora OMIM:207410
Immunodeficiency 97 With Autoinflammation
Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, Colitis, Decreased circulating Ig... OMIM:619802
Congenital Rubella Syndrome
Hepatomegaly, Abnormality of retinal pigmentation, Splenomegaly, Jaundice, Anemia, Visual impairm... ORPHA:290
Macrophage Activation Syndrome
Increased inflammatory response, Increased circulating interleukin 6 concentration, Hypertriglyce... ORPHA:158061
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 2
Pigmentary retinopathy, Cerebral cortical atrophy, Facial palsy OMIM:613156
Schimke Immuno-Osseous Dysplasia
Impaired T cell function, Autoimmunity, Abnormal lymphocyte physiology, Minimal change glomerulon... ORPHA:1830
Ring Chromosome Y Syndrome
Bifid scrotum, Male infertility, Ambiguous genitalia, Streak ovary, Hypospadias, Unilateral crypt... ORPHA:261529
Secondary Short Bowel Syndrome
Abnormal small intestine morphology, Villous atrophy, Aganglionic megacolon, Small intestinal dys... ORPHA:95427
Classic Pantothenate Kinase-Associated Neurodegeneration
Optic disc pallor, Rod-cone dystrophy, Pigmentary retinopathy ORPHA:216866
Neurodegeneration With Brain Iron Accumulation 2A
Cerebellar atrophy, Decreased nerve conduction velocity, Optic atrophy, Cerebral atrophy, Neurode... OMIM:256600
Benign Recurrent Intrahepatic Cholestasis
Jaundice, Acholic stools, Cholestatic liver disease, Cirrhosis, Hepatocellular carcinoma, Choleli... ORPHA:65682
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Lymphopenia, Autoimmune hemolytic anemia, Atrophic gastritis, Hepatomegaly, Psoriasiform dermatit... OMIM:616100
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Retinal degeneration OMIM:615630
Infantile Neuronal Ceroid Lipofuscinosis
Cerebellar atrophy, Blindness, Increased neuronal autofluorescent lipopigment, Visual loss, Progr... ORPHA:79263
Refsum Disease
Abnormality of retinal pigmentation, Splenomegaly, Nyctalopia, Abnormality of vision, Progressive... ORPHA:773
Microcornea, Rod-Cone Dystrophy, Cataract, And Posterior Staphyloma 1
Rod-cone dystrophy, Reduced visual acuity OMIM:619082
Immunodeficiency 22
Pericarditis, Abscess, Autoimmunity, Anemia, Decreased circulating total IgM, Panniculitis, Decre... OMIM:615758
Inflammatory Skin And Bowel Disease, Neonatal, 1
Villous atrophy, Duodenitis, Pustule, Increased circulating IgE level, Erythroderma, Blepharitis OMIM:614328
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome
Reticulocytosis, HbS hemoglobin, Asplenia, Splenomegaly, Splenic infarction, Hypochromic microcyt... ORPHA:251380
Bile Acid Malabsorption, Primary, 1
Increased fecal bile acid, Fat malabsorption, Steatorrhea OMIM:613291
Ataxia-Pancytopenia Syndrome
Abnormal platelet function, Decreased circulating antibody level ORPHA:2585
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis
Decreased proportion of CD8-positive T cells, Decreased circulating total IgM, Decreased proporti... OMIM:611926
Cinca Syndrome
Hepatomegaly, Blindness, Abnormality of neutrophils, Splenomegaly, Leukocytosis, Retrobulbar opti... ORPHA:1451
Acute Infantile Liver Failure-Cerebellar Ataxia-Peripheral Sensory Motor Neuropathy Syndrome
Optic atrophy, Reduced visual acuity, Hepatosplenomegaly, Hepatic fibrosis, Cerebellar vermis atr... ORPHA:466794
Joubert Syndrome 22
Temporal cortical atrophy, Retinal dysplasia OMIM:615665
Adult Idiopathic Neutropenia
Abnormal neutrophil count, Monocytosis, Increased circulating IgM level, Recurrent aphthous stoma... ORPHA:2688
Chronic Diarrhea Due To Glucoamylase Deficiency
Decreased small intestinal mucosa lactase level, Abnormal small intestinal mucosa morphology, Mal... ORPHA:103907
Optic Nerve Hypoplasia, Bilateral
Optic nerve aplasia, Remnants of the hyaloid vascular system, Optic nerve hypoplasia, Morning glo... OMIM:165550
Peroxisome Biogenesis Disorder 9B
Rod-cone dystrophy, Nyctalopia, Constriction of peripheral visual field, Reduced visual acuity OMIM:614879
Arthrogryposis, Distal, Type 5
Abnormality of retinal pigmentation, Retinal fold OMIM:108145
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12
Retinal degeneration OMIM:615249
Mitochondrial Complex I Deficiency, Nuclear Type 8
Pancreatitis OMIM:618230
Mucolipidosis Iii Alpha/Beta
Retinopathy, Retinal degeneration OMIM:252600
Leigh Syndrome
Pigmentary retinopathy, Optic atrophy OMIM:256000
Isolated Atp Synthase Deficiency
Cerebellar atrophy, Hepatomegaly, Blindness, Optic atrophy, Hypogonadism, Rod-cone dystrophy, Cer... ORPHA:254913
Low Phospholipid-Associated Cholelithiasis
Liver abscess, Cholangitis, Intrahepatic cholestasis, Biliary cirrhosis, Neoplasm of the liver, S... ORPHA:69663
Vici Syndrome
Abnormality of retinal pigmentation, Optic atrophy, Hypopigmentation of the skin, Cerebral cortic... ORPHA:1493
Micro Syndrome
Abnormality of retinal pigmentation, Optic atrophy, Retinal coloboma, Abnormality of visual evoke... ORPHA:2510
Osteopetrosis, Autosomal Recessive 2
Pancytopenia, Extramedullary hematopoiesis, Blindness, Cranial nerve compression, Optic atrophy, ... OMIM:259710
Ebola Hemorrhagic Fever
Acute pancreatitis, Maculopapular exanthema, Hepatitis, Leukopenia, Increased circulating antibod... ORPHA:319218
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia
Hepatomegaly, Blindness, Pigmentary retinopathy, Mottled pigmentation of photoexposed areas OMIM:560000
Nephronophthisis 11
Retinal degeneration OMIM:613550
Canavan Disease
Blindness, Optic atrophy, Brain atrophy, Visual impairment OMIM:271900
Isolated Agammaglobulinemia
Recurrent cutaneous abscess formation, Sinusitis, Skin rash, Autoimmunity, Abnormality of neutrop... ORPHA:229717
Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction
Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Optic atrophy OMIM:268315
Severe Oculo-Renal-Cerebellar Syndrome
Abnormal retinal vascular morphology, Abnormality of retinal pigmentation, Optic atrophy, Hypopig... ORPHA:2715
Congenital Enterocyte Heparan Sulfate Deficiency
Abnormal circulating protein concentration, Abnormal circulating polysaccharide concentration, He... ORPHA:103910
Lowry-Wood Syndrome
Abnormality of retinal pigmentation ORPHA:1824
Joubert Syndrome 8
Optic disc pallor, Pigmentary retinopathy OMIM:612291
Preaxial Polydactyly-Colobomata-Intellectual Disability Syndrome
Severely reduced visual acuity, Retinal coloboma, Moderately reduced visual acuity, Chorioretinal... ORPHA:2921
Familial Hemophagocytic Lymphohistiocytosis
Increased circulating interleukin 6 concentration, Hypertriglyceridemia, Skin rash, Maculopapular... ORPHA:540
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Hepatomegaly, Leukopenia, Tubulointerstitial nephritis, Neutropenia, Pancreatitis, Thrombocytopenia OMIM:251000
Subcorneal Pustular Dermatosis
Hyperthyroidism, Autoimmunity, Pustule, Systemic lupus erythematosus, Increased circulating antib... ORPHA:48377
Immunoglobulin A Deficiency 1
Autoimmunity, Decreased circulating IgA level OMIM:137100
Senior-Loken Syndrome 4
Severely reduced visual acuity, Rod-cone dystrophy, Anemia, Amblyopia OMIM:606996
Chylomicron Retention Disease
Accumulation of lipid droplets in small-bowel enterocytes, Decreased LDL cholesterol concentratio... OMIM:246700
T-Cell Immunodeficiency With Thymic Aplasia
Decreased proportion of naive T cells, Aplasia of the thymus, Autoimmunity, Sinusitis, Pneumonia,... ORPHA:83471
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Impaired lymphocyte transformation with phytohemagglutinin, Decreased lymphocyte proliferation in... OMIM:619313
Macrophthalmia, Colobomatous, With Microcornea
Optic disc coloboma, Macular atrophy, Chorioretinal coloboma OMIM:602499
Combined Oxidative Phosphorylation Deficiency 52
Hepatic steatosis, Pancreatitis, Adrenal insufficiency OMIM:619386
Agammaglobulinemia, X-Linked
T lymphocytopenia, Decreased circulating IgE, Conjunctivitis, Neutropenia, Decreased circulating ... OMIM:300755
Adult Acute Respiratory Distress Syndrome
Increased circulating interleukin 6 concentration, Pneumonia, Abnormal circulating interleukin co... ORPHA:70578
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections
Eosinophilia, Eosinophilic infiltration of the esophagus, Eczema, Increased circulating IgE level... OMIM:243700
Hermansky-Pudlak Syndrome 11
Reduced platelet dense granules, Impaired collagen-induced platelet aggregation OMIM:619172
Legionnaires Disease
Pericarditis, Splenomegaly, Jaundice, Myocarditis, Hepatitis, Endocarditis, Bone marrow hypocellu... ORPHA:549
Propionic Acidemia
Hepatomegaly, Pancytopenia, Eczema, Anemia, Neutropenia, Pancreatitis, Thrombocytopenia OMIM:606054
Niemann-Pick Disease, Type B
Hepatomegaly, Bone-marrow foam cells, Thrombocytopenia, Splenomegaly, Abnormal macular morphology... OMIM:607616
Diarrhea 12, With Microvillus Atrophy
Villous atrophy, Microvillus inclusions, Bronchiectasis, Microvillar PAS-positive secretory granules OMIM:619445
Osteopetrosis, Autosomal Recessive 1
Hepatomegaly, Pancytopenia, Blindness, Facial palsy, Splenomegaly, Optic atrophy, Anemia, Visual ... OMIM:259700
Microphthalmia-Brain Atrophy Syndrome
Blindness, Diffuse cerebral atrophy, Corpus callosum atrophy, Atrophy/Degeneration affecting the ... ORPHA:77299
Joubert Syndrome 3
Pigmentary retinopathy, Retinal dystrophy OMIM:608629
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome
Bone spicule pigmentation of the retina, Axonal degeneration, Pigmentary retinopathy, Abnormal se... ORPHA:88628
Autosomal Recessive Spastic Paraplegia Type 11
Orthostatic hypotension, Atrophy of the spinal cord, Abnormality of pattern visual evoked potenti... ORPHA:2822
Congenital Short Bowel Syndrome
Abnormal peristalsis, Intestinal malrotation, Decreased intestinal transit time, Steatorrhea, Con... OMIM:615237
Isolated Succinate-Coq Reductase Deficiency
Left ventricular hypertrophy, Pigmentary retinopathy, Blindness, Reduced visual acuity ORPHA:3208
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Splenomegaly, Hepatomegaly, Persistence of hemoglobin F, Anemia ORPHA:46532
Bardet-Biedl Syndrome 20
Papilledema, Constriction of peripheral visual field, Bilateral cryptorchidism, Nyctalopia, Hyper... OMIM:619471
Gastrointestinal Ulceration, Recurrent, With Dysfunctional Platelets
Impaired platelet aggregation OMIM:618372
Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations
Abnormality of visual evoked potentials, Optic disc pallor, Abnormal auditory evoked potentials OMIM:617523
Albers-Schönberg Osteopetrosis
Abnormal leukocyte morphology, Blindness, Facial palsy, Optic atrophy, Visual impairment, Anemia ORPHA:53
Microphthalmia, Isolated 8
Retinal detachment, Retinal coloboma, Optic nerve hypoplasia, Hypoplastic optic chiasm OMIM:615113
Autoimmune Lymphoproliferative Syndrome
Rheumatoid factor positive, Uveitis, Increased circulating IgG level, Colitis, Lymphocytosis, Inc... ORPHA:3261
Paget Disease Of Bone 5, Juvenile-Onset
Macular scar, Retinopathy, Angioid streaks of the fundus, Retinal degeneration OMIM:239000
Optic Atrophy-Ataxia-Peripheral Neuropathy-Global Developmental Delay Syndrome
Cerebellar atrophy, Blindness, Diffuse cerebral atrophy, Central scotoma, Optic atrophy, Ambiguou... ORPHA:543470
Coats Disease
Exudative retinal detachment, Retinal telangiectasia OMIM:300216
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency
Decreased hemoglobin concentration, Blindness, Hemolytic anemia, Retinal dystrophy, Reticulocytosis ORPHA:713
Hemoglobin H Disease
Hemolytic anemia, Hepatomegaly, Splenomegaly, Reduced alpha/beta synthesis ratio, HbH hemoglobin OMIM:613978
Multiple Sulfatase Deficiency
Cerebellar atrophy, Cerebral atrophy, Retinal degeneration OMIM:272200
Epidermodysplasia Verruciformis, Susceptibility To, 5
T lymphocytopenia, Lymphopenia OMIM:618309
Apert Syndrome
Cryptorchidism, Myopia, Vaginal atresia OMIM:101200
Usher Syndrome Type 2
Myopia, Scotoma, Visual loss, Nyctalopia, Subcortical cerebral atrophy, Hemianopia, Cerebral cort... ORPHA:231178
Immunodeficiency 98 With Autoinflammation, X-Linked
Hepatomegaly, Autoimmune hemolytic anemia, Chronic oral candidiasis, Splenomegaly, B lymphocytope... OMIM:301078
Wolfram Syndrome 2
Impaired collagen-induced platelet aggregation, Decreased circulating antibody level OMIM:604928
Aica-Ribosiduria
Congenital blindness, Fused labia minora, Clitoral hypertrophy ORPHA:250977
Cohen Syndrome
Myopia, Bone spicule pigmentation of the retina, Chorioretinal dystrophy, Bull's eye maculopathy,... OMIM:216550
Cleft Palate, Proliferative Retinopathy, And Developmental Delay
Retinal neovascularization OMIM:619074
Mitochondrial Complex Iii Deficiency, Nuclear Type 11
Pancreatitis OMIM:620137
Holoprosencephaly-Craniosynostosis Syndrome
Abnormality of retinal pigmentation ORPHA:2163
Sea-Blue Histiocytosis
Hepatomegaly, Hypopigmentation of the skin, Hyperpigmentation of the skin, Splenomegaly, Mediasti... ORPHA:158029
Hemochromatosis, Type 2B
Hepatomegaly, Hyperpigmentation of the skin, Splenomegaly, Secondary amenorrhea, Hepatic fibrosis... OMIM:613313
Hemochromatosis, Type 2A
Hepatomegaly, Hypogonadotropic hypogonadism, Splenomegaly, Azoospermia, Infertility, Cirrhosis, H... OMIM:602390
Spinocerebellar Ataxia Type 7
Cone/cone-rod dystrophy, Cerebellar atrophy, Blindness, Visual loss, Reduced visual acuity, Abnor... ORPHA:94147
Mitochondrial Myopathy-Lactic Acidosis-Deafness Syndrome
Vaginal fistula ORPHA:2597
Mitochondrial Complex Iv Deficiency, Nuclear Type 19
Protein-losing enteropathy, Hyperglycinemia OMIM:619063
Peroxisomal Acyl-Coa Oxidase Deficiency
Abnormality of visual evoked potentials, Optic atrophy ORPHA:2971
Microscopic Polyangiitis
Episcleritis, Increased inflammatory response, Pericarditis, Sinusitis, Skin rash, Autoimmunity, ... ORPHA:727
Non-Functioning Pituitary Adenoma
Bitemporal hemianopia, Male hypogonadism, Hypogonadotropic hypogonadism, Anemia of inadequate pro... ORPHA:91349
Autoimmune Disease, Multisystem, Infantile-Onset, 1
Autoimmune hemolytic anemia, Autoimmunity, Eczema, Autoimmune thrombocytopenia, Neutropenia in pr... OMIM:615952
Ectopia Lentis Et Pupillae
Retinal detachment, Iris transillumination defect OMIM:225200
Diarrhea 2, With Microvillus Atrophy, With Or Without Cholestasis
Villous atrophy, Abnormal intestine morphology OMIM:251850
Hypercarotenemia And Vitamin A Deficiency, Autosomal Recessive
Nyctalopia OMIM:277350
Retinitis Pigmentosa With Or Without Skeletal Anomalies
Hypoautofluorescent retinal lesion, Cafe-au-lait spot, Rod-cone dystrophy, Retinal degeneration OMIM:250410
Hypercholanemia, Familial 1
Fat malabsorption, Increased serum bile acid concentration, Steatorrhea OMIM:607748
Citrullinemia, Type Ii, Adult-Onset
Portal inflammation, Ballooning hepatocyte degeneration, Hepatic fibrosis, Hepatocellular carcino... OMIM:603471
Prolactinoma
Bitemporal hemianopia, Blindness, Dyspareunia, Hypogonadotropic hypogonadism, Female hypogonadism... ORPHA:2965
Homocystinuria-Megaloblastic Anemia, Cblg Complementation Type
Blindness, Cerebral atrophy, Megaloblastic anemia OMIM:250940
Manitoba Oculotrichoanal Syndrome
Vaginal atresia OMIM:248450
Alstrom Syndrome
Cone/cone-rod dystrophy, Hepatomegaly, Blindness, Chronic active hepatitis, Hypergonadotropic hyp... OMIM:203800
Multiple Sulfatase Deficiency
Abnormality of retinal pigmentation, Optic atrophy, Abnormality of peripheral nerve conduction ORPHA:585
Axial Spondylometaphyseal Dysplasia
Optic atrophy, Rod-cone dystrophy, Retinal dystrophy, Peripheral retinal degeneration ORPHA:168549
Rat-Bite Fever
Pericarditis, Maculopapular exanthema, Skin rash, Erythema nodosum, Lymphadenitis, Pustule, Myoca... ORPHA:31205
Refractory Celiac Disease
Inflammatory abnormality of the skin, Villous atrophy, Malabsorption, Hypophosphatemia, Protein-l... ORPHA:398063
Werner Syndrome
Retinal degeneration OMIM:277700
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome
Liver kidney microsome type 1 antibody positivity, Antinuclear antibody positivity, Anti-liver cy... ORPHA:562639
Aica-Ribosuria Due To Atic Deficiency
Congenital blindness, Clitoral hypertrophy, Optic atrophy, Fused labia minora OMIM:608688
Neuropathy, Hereditary Motor And Sensory, Type Via, With Optic Atrophy
Decreased motor nerve conduction velocity, Optic disc pallor, Optic atrophy, Abnormality of visua... OMIM:601152
Pantothenate Kinase-Associated Neurodegeneration
Blindness, Pallidal degeneration, Bull's eye maculopathy, Acanthocytosis, Rod-cone dystrophy, Nyc... ORPHA:157850
Selective Igm Deficiency
Fasciitis, Lymphadenitis, Paraproteinemia, Recurrent cutaneous fungal infections, Decreased propo... ORPHA:331235
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1
Sinusitis, Pneumonia, Bronchiectasis, T lymphocytopenia, Increased circulating IgM level, Reduced... OMIM:242860
Mulibrey Nanism
Pigmentary retinopathy OMIM:253250
Methanol Poisoning
Blindness, Abnormal optic nerve morphology, Visual impairment, Blurred vision ORPHA:31825
Wolfram Syndrome 1
Pigmentary retinopathy, Optic atrophy, Cerebral atrophy OMIM:222300
Madras Motor Neuron Disease
Facial palsy, Optic atrophy, Reduced visual acuity, Visual impairment ORPHA:137867
Hemoglobin D Disease
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A... ORPHA:90039
Aceruloplasminemia
Macular degeneration, Abnormality of retinal pigmentation, Retinal degeneration ORPHA:48818
Sweet Syndrome
Predominantly dermal neutrophilic infiltrate, Myositis, Increased circulating interleukin 6 conce... ORPHA:3243
Systemic Capillary Leak Syndrome
Myocarditis, Leukocytosis, Pancreatitis, Pericarditis ORPHA:188
Fraser Syndrome 1
Blindness, Hypospadias, Cryptorchidism, Abnormal thymus morphology, Bicornuate uterus, Micropenis... OMIM:219000
Homocystinuria-Megaloblastic Anemia, Cble Complementation Type
Normocytic anemia, Blindness, Megaloblastic anemia, Cerebral atrophy, Cerebral cortical atrophy OMIM:236270
Xeroderma Pigmentosum, Complementation Group B
Cerebellar atrophy, Decreased nerve conduction velocity, Optic atrophy, Pigmentary retinopathy, F... OMIM:610651
Lowry-Wood Syndrome
Pigmentary retinopathy OMIM:226960
Pseudoxanthoma Elasticum
Choroidal neovascularization, Retinal hemorrhage, Angioid streaks of the fundus, Optic disc druse... OMIM:264800
Thrombophilia Due To Protein S Deficiency, Autosomal Recessive
Blindness, Anemia OMIM:614514
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly
Retinal pigment epithelial mottling OMIM:617102
Congenital Bile Acid Synthesis Defect Type 4
Giant cell hepatitis, Pigmentary retinopathy, Cholestatic liver disease, Hypogonadism, Cholelithi... ORPHA:79095
Diffuse Neonatal Hemangiomatosis
Hepatomegaly, Abnormal vagina morphology, Anemia, Ascites, Thrombocytopenia ORPHA:2123
Lethal Ataxia With Deafness And Optic Atrophy
Decreased motor nerve conduction velocity, Blindness, Abnormal erythrocyte enzyme level, Optic at... ORPHA:1187
Tetraamelia Syndrome 1
Asplenia, Hypoplasia of the fallopian tube, Vaginal atresia, Absent external genitalia OMIM:273395
Mepan Syndrome
Cerebellar atrophy, Optic atrophy, Cerebral atrophy, Abnormality of visual evoked potentials ORPHA:508093
Short-Rib Thoracic Dysplasia 15 With Polydactyly
Splenomegaly, Hepatomegaly, Hydrometrocolpos, Vaginal atresia OMIM:617088
Immunodeficiency 7
Hepatomegaly, Autoimmune hemolytic anemia, Chronic oral candidiasis, Autoimmunity, Splenomegaly, ... OMIM:615387
Hermansky-Pudlak Syndrome 4
Hypoplasia of the fovea, Absent platelet dense granules, Albinism, Ocular albinism, Reduced visua... OMIM:614073
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6
Pigmentary retinopathy, Optic atrophy, Retinal dysplasia OMIM:613154
Maternal Uniparental Disomy Of Chromosome 2
Retinal degeneration ORPHA:96179
Gamma-Heavy Chain Disease
Hepatomegaly, Autoimmune hemolytic anemia, Skin rash, Autoimmunity, Autoimmune thrombocytopenia, ... ORPHA:100026
Fraser Syndrome
Hypoplasia of penis, Small scrotum, Hypospadias, Blindness, Cryptorchidism, Bicornuate uterus, Am... ORPHA:2052
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia
Chronic active hepatitis, Female hypogonadism, Constriction of peripheral visual field, Premature... OMIM:240300
Adrenoleukodystrophy
Blindness, Visual loss, Impotence, Neurodegeneration, Hypogonadism, Hyperpigmentation of the skin OMIM:300100
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome
Cone/cone-rod dystrophy, Abnormality of retinal pigmentation, Retinal atrophy, Retinal thinning, ... ORPHA:85167
Immunodeficiency 49
Impaired lymphocyte transformation with phytohemagglutinin, Psoriasiform dermatitis, Eosinophilia... OMIM:617237
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome
Pigmentary retinopathy, Rod-cone dystrophy ORPHA:2235
Joubert Syndrome 33
Cone/cone-rod dystrophy, Splenomegaly OMIM:617767
Methylmalonate Semialdehyde Dehydrogenase Deficiency
Retinal pigment epithelial mottling OMIM:614105
Senior-Loken Syndrome 8
Retinal dystrophy, Hepatic cysts, Macular atrophy, Pancreatic cysts, Rod-cone dystrophy, Reduced ... OMIM:616307
Microsporidiosis
Myositis, Sinusitis, Cholangitis, Abnormality of the spleen, Lymphadenitis, Nephritis, Infectious... ORPHA:2552
Albinism, Oculocutaneous, Type Vii
Albinism, Reduced visual acuity, Photophobia, Iris transillumination defect, High hypermetropia OMIM:615179
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome
Multiple cafe-au-lait spots, Generalized hypopigmentation, Abnormality of retinal pigmentation, M... ORPHA:1969
Sturge-Weber Syndrome
Retinal detachment, Blindness, Abnormal retinal vascular morphology, Optic atrophy, Abnormality o... ORPHA:3205
Congenital Tufting Enteropathy
Villous atrophy, Abnormal small intestinal mucosa morphology, Elevated fecal osmolality, Malabsor... ORPHA:92050
Mitochondrial Complex I Deficiency, Nuclear Type 4
Blindness, Brain atrophy OMIM:618225
Congenital Microcoria
Blindness, Axial myopia, Iris hypopigmentation, Nyctalopia, Photophobia, Hemeralopia, Iris transi... ORPHA:566
Diarrhea 11, Malabsorptive, Congenital
Villous atrophy OMIM:618662
Fuchs Heterochromic Iridocyclitis
Papilledema, Optic disc pallor, Retinal perforation, Vitreous floaters, Epiretinal membrane, Redu... ORPHA:263479
Autosomal Recessive Cerebellar Ataxia Due To Stub1 Deficiency
Cerebellar atrophy, Parietal cortical atrophy, Retinal atrophy, Corpus callosum atrophy ORPHA:412057
Sandhoff Disease
Hepatomegaly, Blindness, Orthostatic hypotension, Cardiomegaly, Hepatosplenomegaly, Impotence, Ch... OMIM:268800
Diarrhea 9
Villous atrophy OMIM:618168
Sitosterolemia 1
Giant platelets, Impaired platelet aggregation, Thrombocytopenia OMIM:210250
Dystonia, Childhood-Onset, With Optic Atrophy And Basal Ganglia Abnormalities
Optic disc pallor, Optic atrophy, Pigmentary retinopathy OMIM:617282
Lipodystrophy, Familial Partial, Type 1
Hepatomegaly, Acute pancreatitis OMIM:608600
Primary Sclerosing Cholangitis
Abnormal eosinophil morphology, Uveitis, Hepatic fibrosis, Neoplasm of the gallbladder, Hepatomeg... ORPHA:171
Mff-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
Cerebellar atrophy, Optic disc pallor, Decreased nerve conduction velocity, Optic atrophy, Abnorm... ORPHA:485421
Hermansky-Pudlak Syndrome 1
Blindness, Hypopigmentation of hair, Freckles in sun-exposed areas, Albinism, Ocular albinism, Me... OMIM:203300
Vulvovaginal Gingival Syndrome
Abnormality of tumor necrosis factor secretion ORPHA:83453
Caroli Syndrome
Hepatomegaly, Cholangiocarcinoma, Liver abscess, Cholangitis, Portal hypertension, Hypersplenism,... ORPHA:480520
T-Cell Lymphoma, Subcutaneous Panniculitis-Like
Pancytopenia, Autoimmunity, Splenomegaly, Panniculitis, Hemophagocytosis, Anemia OMIM:618398
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2
Nyctalopia, Optic atrophy ORPHA:99947
Bardet-Biedl Syndrome
Pigmentary retinopathy ORPHA:110
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Impaired Intellectual Development Syndrome
Streak ovary, Hypospadias, Cryptorchidism, Abnormality of the uterus, Gonadoblastoma, Abnormal va... OMIM:194072
Autoimmune Polyendocrinopathy Type 4
Atrophic gastritis, Xerostomia, Leukopenia, Tubulointerstitial nephritis, Hashimoto thyroiditis, ... ORPHA:227990
Waardenburg Syndrome
Hypopigmentation of hair, Aganglionic megacolon, Hypopigmented skin patches, Abnormality of visio... ORPHA:3440
Norrie Disease
Retinal detachment, Blindness, Optic atrophy, Retinal dysplasia, Retinal fold OMIM:310600
Igg4-Related Aortitis
Increased inflammatory response, Autoimmunity, Increased circulating IgG4 level, Antinuclear anti... ORPHA:449400
Hermansky-Pudlak Syndrome 2
Prolonged bleeding time, Absent platelet dense granules, Reduced natural killer cell activity, Im... OMIM:608233
Vascular Hyalinosis
Hematochezia, Protein-losing enteropathy, Malabsorption OMIM:277175
Hermansky-Pudlak Syndrome 8
Hypoplasia of the fovea, Myopia, Optic disc pallor, Albinism, Silver-gray hair, Moderate hypermet... OMIM:614077
Autoimmune Polyendocrinopathy Type 3
Atrophic gastritis, Autoimmune hypoparathyroidism, Xerostomia, Leukopenia, Tubulointerstitial nep... ORPHA:227982
Thymoma
Myositis, Aplastic anemia, Autoimmunity, Abnormal lymphocyte proliferation, Pure red cell aplasia... ORPHA:99867
Hyperlipoproteinemia, Type Id
Hepatomegaly, Splenomegaly, Colitis, Recurrent pancreatitis, Pancreatitis OMIM:615947
Alpers-Huttenlocher Syndrome
Abnormality of vision, Blindness ORPHA:726
Immunoneurologic Disorder, X-Linked
Nyctalopia OMIM:300076
Pseudoxanthoma Elasticum, Forme Fruste
Macular degeneration, Retinal hemorrhage, Angioid streaks of the fundus OMIM:177850
Mannosidosis, Alpha B, Lysosomal
Cerebellar atrophy, Corpus callosum atrophy, Cerebral cortical atrophy, Retinal degeneration OMIM:248500
Bernard-Soulier Syndrome
Decreased platelet glycoprotein Ib-IX-V, Giant platelets, Macrothrombocytopenia, Impaired ristoce... ORPHA:274
Anemia, Hypochromic Microcytic, With Iron Overload 2
Hepatomegaly, Splenomegaly, Decreased mean corpuscular volume, Azoospermia, Hypogonadism, Poikilo... OMIM:615234
Beta-Thalassemia, Dominant Inclusion Body Type
Hepatomegaly, Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, Ery... OMIM:603902
46,Xx Difference Of Sex Development-Skeletal Anomalies Syndrome
Fused labia minora, Ambiguous genitalia, female, Primary amenorrhea, Abnormality of the uterus, A... ORPHA:2975
Antiphospholipid Syndrome, Familial
Retinal vasculitis, Retinal detachment, Vitritis, Central retinal artery occlusion OMIM:107320
Erythroleukemia, Familial, Susceptibility To
Acute myeloid leukemia, Hepatomegaly, Splenomegaly, Anemia, Erythroid hyperplasia, Leukemia, Thro... OMIM:133180
Persistent Polyclonal B-Cell Lymphocytosis
Splenomegaly, Hepatomegaly, Lymphocytosis OMIM:606445
Pancreatitis, Hereditary
Pancreatitis, Pancreatic pseudocyst, Pancreatic calcification, Exocrine pancreatic insufficiency OMIM:167800
Kearns-Sayre Syndrome
Pigmentary retinopathy OMIM:530000
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1
Pigmentary retinopathy OMIM:600462
Congenital Muscular Dystrophy With Cerebellar Involvement
Retinal detachment, Myopia, Blindness, Optic nerve hypoplasia, Optic atrophy ORPHA:370959
Cerebellar Atrophy, Visual Impairment, And Psychomotor Retardation
Cerebellar atrophy, Corpus callosum atrophy, Optic atrophy, Cerebral atrophy, Brain atrophy, Abno... OMIM:616875
Optic Atrophy 11
Myopia, Optic nerve hypoplasia, Amblyopia, Splenomegaly, Optic atrophy, Hypermetropia, Facial dip... OMIM:617302
Felty Syndrome
Episcleritis, Hepatomegaly, Pericarditis, Sinusitis, Autoimmunity, Splenomegaly, Recurrent pneumo... ORPHA:47612
Alpha-N-Acetylgalactosaminidase Deficiency
Blindness, Cerebral cortical atrophy, Cardiomegaly ORPHA:3137
Joubert Syndrome 35
Nyctalopia, Rod-cone dystrophy, Progressive visual loss OMIM:618161
Deafness-Lymphedema-Leukemia Syndrome
Hepatomegaly, Abnormal neutrophil count, Splenomegaly, Leukocytosis, Visual loss, Lymphadenopathy... ORPHA:3226
46,Xy Partial Gonadal Dysgenesis
Hypoplasia of the vagina, Hypoplasia of penis, Vanishing testis, Micropenis, Ovarian gonadoblasto... ORPHA:251510
Partial Androgen Insensitivity Syndrome
Bifid scrotum, Fused labia majora, Clitoral hypertrophy, Male infertility, Hypospadias, Bilateral... ORPHA:90797
Persistent Hyperplastic Primary Vitreous
Glial remnants anterior to the optic disc, Blindness, Hyaloid vascular remnant and retrolental ma... ORPHA:91495
Cerebral Arteriopathy, Autosomal Dominant, With Subcortical Infarcts And Leukoencephalopathy, Type 1
Abnormality of visual evoked potentials, Nonarteritic anterior ischemic optic neuropathy OMIM:125310
Pelizaeus-Merzbacher Disease
Abnormality of visual evoked potentials, Optic atrophy, Cerebral cortical atrophy ORPHA:702
Myopia 23, Autosomal Recessive
Reduced visual acuity, Visual impairment, High myopia OMIM:615431
Hyperparathyroidism 2 With Jaw Tumors
Recurrent pancreatitis, Hyperparathyroidism, Pancreatic adenocarcinoma OMIM:145001
Chediak-Higashi Syndrome
Photophobia, Leukopenia, Giant neutrophil granules, Neutropenia, Hypopigmentation of the skin, Ir... OMIM:214500
Igg4-Related Kidney Disease
Rheumatoid factor positive, Lymphadenitis, Increased circulating IgG level, Tubulointerstitial ne... ORPHA:449395
Mohr-Tranebjaerg Syndrome
Absent brainstem auditory responses, Caudate atrophy, Optic atrophy, Abnormality of visual evoked... ORPHA:52368
Cranioectodermal Dysplasia 4
Nyctalopia, Hypermetropia, Bone marrow hypocellularity, Rod-cone dystrophy, Visual impairment OMIM:614378
Albinism, Oculocutaneous, Type Ia
Hypoplasia of the fovea, Myopia, Hypopigmentation of hair, Albinism, Absent skin pigmentation, Wh... OMIM:203100
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome
Septate vagina, Uterus didelphys, Primary amenorrhea, Aplasia of the vagina, Pseudopapilledema, A... OMIM:146255
Sporadic Adult-Onset Ataxia Of Unknown Etiology
Macular degeneration, Abnormal cranial nerve morphology, Abnormal autonomic nervous system physio... ORPHA:247234
Musk, Inability To Smell
Blindness OMIM:254150
Hyperbilirubinemia, Shunt, Primary
Reticulocytosis, Hepatomegaly, Anemia of inadequate production, Splenomegaly, Jaundice, Erythroid... OMIM:237800
Pauci-Immune Glomerulonephritis
Glomerulonephritis, Antinuclear antibody positivity, Cytoplasmic antineutrophil antibody positivi... ORPHA:93126
Spinocerebellar Ataxia, Autosomal Recessive 3
Blindness OMIM:271250
Global Developmental Delay-Visual Anomalies-Progressive Cerebellar Atrophy-Truncal Hypotonia Syndrome
Corpus callosum atrophy, Optic atrophy, Cerebral atrophy, Abnormality of visual evoked potentials... ORPHA:480898
Stickler Syndrome, Type I
Retinal detachment, Myopia, Blindness, Vitreoretinopathy, Membranous vitreous appearance, Retinal... OMIM:108300
Apolipoprotein C-Ii Deficiency
Splenomegaly, Pancreatitis, Hepatomegaly OMIM:207750
X-Linked Immunoneurologic Disorder
Nyctalopia ORPHA:2571
Familial Partial Lipodystrophy, Dunnigan Type
Splenomegaly, Hepatic steatosis, Pancreatitis, Hepatomegaly ORPHA:2348
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Hepatomegaly, Pancytopenia, Abnormal lymphocyte count, Portal hypertension, Thrombocytopenia, Abn... ORPHA:79124
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Malabsorption, Xerostomia, Hamartomatous polyposis, Hematochezia, Hypokalemia, Protein-losing ent... OMIM:175500
Netherton Syndrome
Villous atrophy, Recurrent skin infections, Allergic rhinitis, Eczema, Increased circulating IgE ... OMIM:256500
Pparg-Related Familial Partial Lipodystrophy
Hepatomegaly, Splenomegaly, Cirrhosis, Hepatic steatosis, Pancreatitis ORPHA:79083
Cherubism
Constriction of peripheral visual field, Optic neuropathy, Macular scar, Reduced visual acuity, M... OMIM:118400
Immunodeficiency 26 With Or Without Neurologic Abnormalities
T lymphocytopenia, B lymphocytopenia, Recurrent aphthous stomatitis, Abnormal natural killer cell... OMIM:615966
Mitochondrial Trifunctional Protein Deficiency 1
Pigmentary retinopathy OMIM:609015
Neuromuscular Oculoauditory Syndrome
Decreased nerve conduction velocity, Chorioretinal lacunae, Decreased amplitude of sensory action... OMIM:618733
Hypomelia With Mullerian Duct Anomalies
Uterus didelphys, Longitudinal vaginal septum OMIM:146160
Immunodeficiency 16
Splenomegaly, Pancytopenia, Coombs-positive hemolytic anemia OMIM:615593
Short Stature, Hearing Loss, Retinitis Pigmentosa, And Distinctive Facies
Cerebellar atrophy, Myopia, Nyctalopia, High myopia, Rod-cone dystrophy, Cerebral cortical atrophy OMIM:617763
Severe X-Linked Intellectual Disability, Gustavson Type
Blindness, Optic atrophy, Brain atrophy ORPHA:3078
Omenn Syndrome
Hepatomegaly, Eosinophilia, Autoimmunity, Pneumonia, Splenomegaly, Leukocytosis, Thyroiditis, Ery... ORPHA:39041
X-Linked Myotubular Myopathy-Abnormal Genitalia Syndrome
Bifid scrotum, Cryptorchidism, Glandular hypospadias, Blind vagina, Micropenis, Penile hypospadia... ORPHA:456328
Papillorenal Syndrome
Retinal detachment, Morning glory anomaly, Macular hyperpigmentation, Optic disc coloboma, Chorio... OMIM:120330
Neurodegeneration With Brain Iron Accumulation 1
Optic atrophy, Pigmentary retinopathy, Neurodegeneration, Global brain atrophy, Cerebral degenera... OMIM:234200
Purine Nucleoside Phosphorylase Deficiency
Autoimmune hemolytic anemia, Autoimmunity, Autoimmune thrombocytopenia, Abnormal T cell morpholog... ORPHA:760
Mgat2-Cdg
Decreased circulating IgG level, Impaired platelet aggregation, Decreased circulating antibody level ORPHA:79329
Non-24-Hour Sleep-Wake Syndrome
Blindness ORPHA:73267
46,Xx Ovotesticular Difference Of Sex Development
Bifid scrotum, Abnormal male internal genitalia morphology, Hypoplasia of penis, Small scrotum, H... ORPHA:2138
Achalasia-Addisonianism-Alacrima Syndrome
Orthostatic hypotension, Optic atrophy, Abnormal autonomic nervous system physiology, Abnormality... OMIM:231550
Cryptococcosis
Blindness, Lymphoid leukemia, Abnormal retinal morphology, Mediastinal lymphadenopathy, Peritonit... ORPHA:1546
Prolidase Deficiency
Abnormality of retinal pigmentation, White forelock ORPHA:742
Friedreich Ataxia
Abnormality of visual evoked potentials, Decreased sensory nerve conduction velocity, Optic atrop... OMIM:229300
Androgen Insensitivity Syndrome
Female external genitalia in individual with 46,XY karyotype, Blind vagina, Primary amenorrhea, L... OMIM:300068
Amyloidosis Of Gingiva And Conjunctiva With Impaired Intellectual Development
Blindness OMIM:204850
Gm1 Gangliosidosis
Blindness, Abnormal retinal vascular morphology, Splenomegaly, Optic atrophy, Retinopathy of prem... ORPHA:354
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Intestinal obstruction, Psoriasiform dermatitis, Jejunal atresia, Intestinal malrotation, Ileal a... OMIM:243150
Tay-Sachs Disease
Cherry red spot of the macula, Blindness OMIM:272800
Tropical Calcific Pancreatitis
Neoplasm of the pancreas, Pancreatic calcification, Chronic pancreatitis OMIM:608189
Coloboma, Ocular, Autosomal Recessive
Optic disc coloboma, Retinal coloboma, Reduced visual acuity OMIM:216820
Spondyloenchondrodysplasia With Immune Dysregulation
Autoimmunity, Pneumonia, Autoimmune thrombocytopenia, Antinuclear antibody positivity, Hypothyroi... OMIM:607944
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Myositis, Anti-thyroid peroxidase antibody positivity, Iron deficiency anemia, Tubulointerstitial... ORPHA:37042
Systemic-Onset Juvenile Idiopathic Arthritis
Hepatomegaly, Pericarditis, Anterior uveitis, Skin rash, Autoimmunity, Splenomegaly, Juvenile rhe... ORPHA:85414
Megalocornea
Retinal detachment, Iris transillumination defect, Reduced visual acuity OMIM:309300
Mitchell-Riley Syndrome
Jejunal atresia, Intestinal malrotation, Malabsorption, Anteriorly placed anus, Acholic stools, H... OMIM:615710
Alg1-Cdg
Abnormality of the gastrointestinal tract, Protein-losing enteropathy, Hypoalbuminemia ORPHA:79327
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3
Retinal atrophy, Optic atrophy, Hypoplasia of the retina, Retinal dysplasia, Enlarged flash visua... OMIM:253280
Intermediate Uveitis
Macular scar, Vitreous haze, Epiretinal membrane, Vitreous floaters, Reduced visual acuity, Macul... ORPHA:279914
Sjogren Syndrome
Autoimmunity, Xerostomia, Tubulointerstitial nephritis, Keratoconjunctivitis sicca, Rheumatoid ar... OMIM:270150
Pemphigus Erythematosus
Autoimmunity, Antinuclear antibody positivity, Anti-acetylcholine receptor antibody positivity, S... ORPHA:79480
Joubert Syndrome With Oculorenal Defect
Blindness, Aganglionic megacolon, Retinal dystrophy, Chorioretinal coloboma, Visual impairment ORPHA:2318
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Hepatomegaly, Extramedullary hematopoiesis, Splenomegaly, Thrombocytopenia, Leukopenia, Neutropen... OMIM:615285
Coccidioidomycosis
Pericarditis, Osteomyelitis, Skin rash, Eosinophilia, Abscess, Pneumonia, Erythema nodosum, Abnor... ORPHA:228123
Igg4-Related Ophthalmic Disease
Sinusitis, Eosinophilia, Increased circulating IgG4 level, Cholangitis, Antinuclear antibody posi... ORPHA:449563
Autoinflammation With Episodic Fever And Lymphadenopathy
Hepatomegaly, Microcytic anemia, Splenomegaly, Recurrent tonsillitis, Lymphadenopathy OMIM:618852
Hyper-Igd Syndrome
Optic disc pallor, Neutrophilia, Lymphadenitis, Leukocytosis, Splenomegaly, Nyctalopia, Lymphaden... OMIM:260920
Infantile Neuroaxonal Dystrophy
Cerebellar atrophy, Blindness, Optic atrophy, Abnormal autonomic nervous system physiology, Abnor... ORPHA:35069
Complete Androgen Insensitivity Syndrome
Male infertility, Abnormal uterine cervix morphology, Testicular neoplasm, Bilateral cryptorchidi... ORPHA:99429
Xfe Progeroid Syndrome
Blindness, Premature ovarian insufficiency, Optic atrophy, Ascites, Visual impairment, Attenuatio... OMIM:610965
Bare Lymphocyte Syndrome, Type Ii
Viral hepatitis, Villous atrophy, Cholangitis, Malabsorption, Chronic mucocutaneous candidiasis, ... OMIM:209920
Peroxisome Biogenesis Disorder 2A (Zellweger)
Intrahepatic biliary dysgenesis, Hepatomegaly, Brushfield spots, Cryptorchidism, Jaundice, Optic ... OMIM:214110
Myopia 22, Autosomal Dominant
Reduced visual acuity, High myopia OMIM:615420
Burkitt Lymphoma
Decreased proportion of CD4-positive helper T cells, Abnormality of the spleen, Abnormality of th... ORPHA:543
Wiskott-Aldrich Syndrome
Abnormal delayed hypersensitivity skin test, Iron deficiency anemia, Inflammation of the large in... OMIM:301000
Cidec-Related Familial Partial Lipodystrophy
Hepatomegaly, Hepatic steatosis, Pancreatitis ORPHA:435651
Glycogen Storage Disease Ib
Hepatomegaly, Pancreatic fibrosis, Hepatocellular carcinoma, Splenomegaly, Gout, Inflammation of ... OMIM:232220
Late-Infantile/Juvenile Krabbe Disease
Prolonged brainstem auditory evoked potentials, Blindness, Decreased nerve conduction velocity, V... ORPHA:206443
Syndromic Multisystem Autoimmune Disease Due To Itch Deficiency
Pancytopenia, Autoimmunity, Cholangitis, Portal hypertension, Hypersplenism, Hypothyroidism, Anti... ORPHA:228426
Xq12-Q13.3 Duplication Syndrome
Abnormality of visual evoked potentials, Optic disc pallor ORPHA:314389
Congenital Disorder Of Glycosylation, Type Iif
Decreased platelet glycoprotein Ib, Macrothrombocytopenia, Thrombocytopenia OMIM:603585
Deafness, Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome
Blindness, Optic atrophy, Cerebral atrophy, High myopia OMIM:220500
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy
Pigmentary retinopathy, Optic atrophy ORPHA:436271
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked
Congenital shortened small intestine, Pyloric stenosis, Intestinal pseudo-obstruction, Intestinal... OMIM:300048
Hypopigmentation, Organomegaly, And Delayed Myelination And Development
Cerebellar atrophy, Hepatomegaly, Hypopigmentation of hair, Splenomegaly, Reduced visual acuity, ... OMIM:618541
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome
Myopia, Hypoplasia of penis, Ambiguous genitalia, Blindness, Abnormal hemoglobin, Aganglionic meg... ORPHA:847
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2
Accessory spleen, Hepatomegaly, Constriction of peripheral visual field, Macular atrophy, Microve... OMIM:619418
Neuraminidase Deficiency
Hepatomegaly, Bone-marrow foam cells, Cardiomegaly, Splenomegaly, Vacuolated lymphocytes, Progres... OMIM:256550
Duodenal Ulcer, Hyperpepsinogenemic I
Hyperpepsinogenemia I, Duodenal ulcer OMIM:126850
Autoinflammation With Infantile Enterocolitis
Villous atrophy, Skin rash, Elevated circulating C-reactive protein concentration, Increased circ... OMIM:616050
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Autoimmune hemolytic anemia, Antiphospholipid antibody positivity, Inflammatory abnormality of th... ORPHA:391487
Knobloch Syndrome
Retinal detachment, Macular degeneration, Vitreoretinopathy, Abnormal vitreous humor morphology ORPHA:1571
Hemochromatosis, Type 1
Hepatomegaly, Hypogonadotropic hypogonadism, Cardiomegaly, Splenomegaly, Azoospermia, Impotence, ... OMIM:235200
Abetalipoproteinemia
Hepatomegaly, Reticulocytosis, Blindness, Abnormality of retinal pigmentation, Scotoma, Cardiomeg... ORPHA:14
Infantile Krabbe Disease
Prolonged brainstem auditory evoked potentials, Blindness, Diffuse cerebral atrophy, Decreased ne... ORPHA:206436
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Macular coloboma, Atrophy of the spinal cord, Optic atrophy, Cerebral atrophy, Pigmentary retinop... ORPHA:79282
Mucopolysaccharidosis, Type Ii
Neurodegeneration, Papilledema, Abnormality of retinal pigmentation OMIM:309900
Chédiak-Higashi Syndrome
Large clumps of pigment irregularly distributed along hair shaft, Vacuolated lymphocytes, Photoph... ORPHA:167
Psoriasis-Related Juvenile Idiopathic Arthritis
Anterior uveitis, Psoriasiform dermatitis, Skin rash, Iridocyclitis, Oligoarthritis, Uveitis, Ent... ORPHA:85436
Griscelli Syndrome Type 2
Hepatomegaly, Pancytopenia, Hypopigmentation of hair, Partial albinism, Splenomegaly, Jaundice, L... ORPHA:79477
Coloboma, Ocular, Autosomal Dominant
Optic nerve aplasia, Remnants of the hyaloid vascular system, Morning glory anomaly, Optic disc c... OMIM:120200
Sickle Cell Disease
Hemolytic anemia, Hepatomegaly, Cardiomegaly, Splenomegaly, Jaundice, Leukocytosis, Splenic infar... OMIM:603903
Mccune-Albright Syndrome
Pancytopenia, Hyperthyroidism, Elevated circulating growth hormone concentration, Hepatitis, Chol... ORPHA:562
Cerebellar, Ocular, Craniofacial, And Genital Syndrome
Retinal degeneration OMIM:618479
Igg4-Related Pachymeningitis
Sinusitis, Eosinophilia, Increased circulating IgG4 level, Lymphadenitis, Nephritis, Pancreatitis... ORPHA:449427
Mitochondrial Myopathy-Cerebellar Ataxia-Pigmentary Retinopathy Syndrome
Optic disc pallor, Pigmentary retinopathy ORPHA:502423
Microcephaly-Lymphedema-Chorioretinopathy Syndrome
Myopia, Blindness, Retinal detachment, Retinal dystrophy, Chorioretinal dysplasia, Abnormality of... ORPHA:2526
Myopathy, Mitochondrial, And Ataxia
Pigmentary retinopathy OMIM:617675
Systemic Sclerosis
Abnormality of the gastrointestinal tract, Abnormal small intestine morphology, Pericarditis, Ost... ORPHA:90291
Hemoglobin C-Beta-Thalassemia Syndrome
Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia ORPHA:231242
Kniest Dysplasia
Retinal detachment, Rhegmatogenous retinal detachment, Lattice retinal degeneration, Vitreoretino... ORPHA:485
Autosomal Recessive Spinocerebellar Ataxia-Blindness-Deafness Syndrome
Spinocerebellar atrophy, Blindness, Optic atrophy ORPHA:95433
Progressive Encephalopathy With Leukodystrophy Due To Decr Deficiency
Pancreatitis, Aspiration pneumonia ORPHA:431361
Fish-Eye Disease
Splenomegaly, Hepatomegaly, Visual impairment, Lymphadenopathy ORPHA:79292
Lysinuric Protein Intolerance
Hepatomegaly, Decreased response to growth hormone stimulation test, Glomerulonephritis, Antinucl... ORPHA:470
Tay-Sachs Disease
Cerebellar atrophy, Blindness, Precocious puberty, Optic atrophy, Hepatosplenomegaly, Global brai... ORPHA:845
Maternal Uniparental Disomy Of Chromosome 4
Pigmentary retinopathy, Rod-cone dystrophy, Optic atrophy ORPHA:96180
Hurler Syndrome
Neurodegeneration, Retinal degeneration OMIM:607014
Proteus-Like Syndrome
Retinal detachment, Thymus hyperplasia, Myopia, Splenomegaly, Polycystic ovaries, Irregular hyper... ORPHA:2969
Autoimmune Hemolytic Anemia, Warm Type
Autoimmune hemolytic anemia, Autoimmunity, Splenomegaly, Jaundice, Systemic lupus erythematosus, ... ORPHA:90033
Aicardi-Goutieres Syndrome 9
Hemolytic anemia, Hepatic steatosis, Hepatomegaly, Acute pancreatitis, Chilblains, Portal hyperte... OMIM:619487
Scedosporiosis
Pericarditis, Osteomyelitis, Arthralgia/arthritis, Sinusitis, Pneumonia, Endocarditis, Septic art... ORPHA:449280
Maple Syrup Urine Disease
Pancreatitis OMIM:248600
Neurodevelopmental Disorder With Brain Anomalies And With Or Without Vertebral Or Cardiac Anomalies
Blindness OMIM:618731
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Pigmentary retinopathy, Mildly elevated creatine kinase, Hepatic necrosis, Increased C-peptide level ORPHA:71212
Full Nf2-Related Schwannomatosis
Blindness, Remnants of the hyaloid vascular system, Facial palsy, Amblyopia, Bilateral vestibular... ORPHA:637
Bile Acid Synthesis Defect, Congenital, 1
Giant cell hepatitis, Conjugated hyperbilirubinemia, Acholic stools, Steatorrhea, Fat malabsorpti... OMIM:607765
46,Xy Ovotesticular Difference Of Sex Development
Bifid scrotum, Ambiguous genitalia, True hermaphroditism, Abnormal labia morphology, Fused labia ... ORPHA:325345
Tropical Pancreatitis
Pancreatic adenocarcinoma, Jaundice, Chronic calcifying pancreatitis, Abnormal pancreatic duct mo... ORPHA:103918
Idiopathic Hypereosinophilic Syndrome
Inflammatory abnormality of the skin, Neutrophilia, Eosinophilia, Cholangitis, Eczema, Thrombocyt... ORPHA:3260
Mayer-Rokitansky-Kuster-Hauser Syndrome
Hypoplasia of the uterus, Aplasia of the vagina, Amenorrhea OMIM:277000
Congenital Disorder Of Glycosylation, Type Ib
Villous atrophy, Protein-losing enteropathy, Hypoalbuminemia, Steatorrhea OMIM:602579
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations
Retinal cotton wool spot, Abnormal retinal vascular morphology, Retinal neovascularization, Macul... ORPHA:247691
Microphthalmia With Linear Skin Defects Syndrome
Abnormal penis morphology, Abnormality of retinal pigmentation, Blindness, Hypospadias, Chorioret... ORPHA:2556
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Reticulocytosis, Acute colitis, Leukocytosis, Schistocytosis, Peritonitis, Microangiopathic hemol... ORPHA:90038
Pigmented Nodular Adrenocortical Disease, Primary, 2
Primary hypercortisolism, Increased circulating cortisol level, Pancreatitis OMIM:610475
Mitochondrial Complex Iv Deficiency, Nuclear Type 1
Pigmentary retinopathy, Optic atrophy OMIM:220110
X-Linked Intellectual Disability-Limb Spasticity-Retinal Dystrophy-Diabetes Insipidus Syndrome
Optic disc pallor, Retinal dystrophy, Macular coloboma, Elevated amniotic fluid alpha-fetoprotein... ORPHA:423479
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency
Chronic gastritis, Liver abscess, Cholangitis, Cholecystitis, Decreased circulating IgG level, Ps... ORPHA:183675
Mast Cell Sarcoma
Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Mastocytosis ORPHA:66661
Microphthalmia, Isolated, With Coloboma 9
Retinal detachment, Reduced visual acuity, Visual impairment, Macular coloboma OMIM:615145
Splenoportal Vascular Anomalies
Anomalous splenoportal venous system, Splenomegaly, Hepatic fibrosis, Cirrhosis, Ascites OMIM:271500
Peripheral Primitive Neuroectodermal Tumor
Neoplasm of the pancreas, Jaundice, Pancreatitis, Anemia ORPHA:370348
Acquired Generalized Lipodystrophy
Hepatomegaly, Acute pancreatitis, Autoimmunity, Panniculitis, Cirrhosis, Hepatic steatosis ORPHA:79086
Momo Syndrome
Blindness, Retinal coloboma OMIM:157980
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Hepatic steatosis, Hepatomegaly, Chronic neutropenia, Enterocolitis, Gout, Hepatocellular adenoma... ORPHA:79259
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency
Hepatic steatosis, Pancreatitis OMIM:236200
Ataxia-Telangiectasia
Decreased circulating IgG level, Sinusitis, Decreased circulating IgG2 level, Bronchiectasis, Acu... OMIM:208900
Herpes Simplex Virus Stromal Keratitis
Blindness, Reduced visual acuity ORPHA:137599
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1
Myopia, Blindness, Retinal atrophy, Retinal detachment, Optic nerve hypoplasia, Cryptorchidism, O... OMIM:236670
Primary Intestinal Lymphangiectasia
Increased stool alpha1-antitrypsin concentration, Functional abnormality of the gastrointestinal ... ORPHA:90362
Hyperlipoproteinemia, Type I
Splenomegaly, Jaundice, Pancreatitis, Hepatosplenomegaly OMIM:238600
Mullerian Aplasia And Hyperandrogenism
Abnormal external genitalia, Primary amenorrhea, Aplasia of the vagina, Aplasia of the fallopian ... OMIM:158330
Cystinosis, Nephropathic
Male infertility, Hepatomegaly, Blindness, Hypopigmentation of the skin, Hypopigmentation of hair... OMIM:219800
Glycosylphosphatidylinositol Biosynthesis Defect 1
Portal vein thrombosis, Hepatomegaly, Portal hypertension, Splenomegaly OMIM:610293
Immunodeficiency, Common Variable, 8, With Autoimmunity
Atrophic gastritis, Villous atrophy, Pneumonia, Erythema nodosum, Recurrent pneumonia, Bronchiect... OMIM:614700
Zygomycosis
Brain abscess, Fasciitis, Sinusitis, Pericarditis, Gastritis, Pustule, Myocarditis, Peritonitis, ... ORPHA:73263
Granulomatosis With Polyangiitis
Increased inflammatory response, Pericarditis, Sinusitis, Skin rash, Autoimmunity, Prostatitis, G... ORPHA:900
Pyruvate Dehydrogenase E1-Alpha Deficiency
Blindness, Cerebral atrophy ORPHA:79243
Hypocalciuric Hypercalcemia, Familial, Type I
Hyperparathyroidism, Pancreatitis OMIM:145980
Chromosome 6Pter-P24 Deletion Syndrome
Pigmentary retinopathy, Patent ductus arteriosus OMIM:612582
Alpha-Thalassemia
Hemolytic anemia, Abnormal hemoglobin, Microcytic anemia, Hypersplenism, Splenomegaly, Jaundice, ... ORPHA:846
Developmental And Epileptic Encephalopathy 3
Abnormality of visual evoked potentials, Brain atrophy, Cerebral atrophy OMIM:609304
Mpi-Cdg
Gastrointestinal hemorrhage, Protein-losing enteropathy, Hypoalbuminemia ORPHA:79319
Metachromatic Leukodystrophy, Late Infantile Form
Decreased nerve conduction velocity, Optic atrophy, Abnormality of visual evoked potentials ORPHA:309256
Griscelli Syndrome
Hepatomegaly, Abnormality of neutrophils, Splenomegaly, Jaundice, White hair, Silver-gray hair, H... ORPHA:381
Igg4-Related Thyroid Disease
Pancreatic fibrosis, Autoimmunity, Increased circulating IgG4 level, Retroperitoneal fibrosis, An... ORPHA:64744
Classic Homocystinuria
Retinal detachment, Optic atrophy, Abnormality of retinal pigmentation ORPHA:394
White-Sutton Syndrome
Cerebellar atrophy, Myopia, Blindness, Optic atrophy, Hypermetropia, Subcortical cerebral atrophy... ORPHA:468678
Gaucher Disease, Type I
Macular atrophy, Hyperpigmentation of the skin OMIM:230800
Immunodeficiency 82 With Systemic Inflammation
Decreased proportion of naive T cells, T lymphocytopenia, Colitis, Pustular rash, Bronchiectasis,... OMIM:619381
Ramon Syndrome
Optic disc pallor, Pigmentary retinopathy OMIM:266270
Autosomal Recessive Spastic Paraplegia Type 44
Abnormality of visual evoked potentials, Abnormal auditory evoked potentials, Abnormality of soma... ORPHA:320401
3-Hydroxy-3-Methylglutaric Aciduria
Hepatomegaly, Acute pancreatitis, Leukocytosis, Jaundice, Lipid accumulation in hepatocytes, Leuk... ORPHA:20
Pancreas, Annular
High intestinal obstruction, Duodenal stenosis OMIM:167750
Annular Pancreas
High intestinal obstruction, Duodenal stenosis ORPHA:675
Mitochondrial Trifunctional Protein Deficiency
Pigmentary retinopathy ORPHA:746
Pancreatic Colipase Deficiency
Fat malabsorption, Steatorrhea ORPHA:309108
Cohen Syndrome
Abnormality of skin pigmentation, Abnormality of retinal pigmentation, Chorioretinal dystrophy, O... ORPHA:193
Mccune-Albright Syndrome
Precocious puberty, Blindness, Large cafe-au-lait macules with irregular margins OMIM:174800
Cockayne Syndrome A
Cerebellar atrophy, Retinal atrophy, Abnormal auditory evoked potentials, Decreased nerve conduct... OMIM:216400
Werner Syndrome
Premature graying of hair, Abnormality of retinal pigmentation, White forelock ORPHA:902
Denys-Drash Syndrome
True hermaphroditism, Septate vagina, Gonadal tissue inappropriate for external genitalia or chro... OMIM:194080
Mucopolysaccharidosis Type 3
Hepatomegaly, Blindness, Constriction of peripheral visual field, Myopia, Cardiomegaly, Adenoidit... ORPHA:581
Tsh-Secreting Pituitary Adenoma
Bitemporal hemianopia, Abnormal visual field test, Blindness, Hypogonadotropic hypogonadism, Fema... ORPHA:91347
Metachromatic Leukodystrophy, Juvenile Form
Decreased nerve conduction velocity, Optic atrophy, Abnormality of visual evoked potentials ORPHA:309263
Retinoblastoma
Abnormality of retinal pigmentation, Subretinal pigment epithelium hemorrhage, Retinal calcificat... ORPHA:790
Lysinuric Protein Intolerance
Hepatomegaly, Splenomegaly, Anemia, Leukopenia, Hemophagocytosis, Pancreatitis, Thrombocytopenia OMIM:222700
46,Xx Sex Reversal 2
Bifid scrotum, Hypoplasia of the vagina, Small scrotum, True hermaphroditism, Ovotestis, Perineal... OMIM:278850
Hypocalciuric Hypercalcemia, Familial, Type Ii
Primary hyperparathyroidism, Pancreatitis OMIM:145981
Cerebrooculonasal Syndrome
Hypoplasia of penis, Blindness ORPHA:66625
Whim Syndrome
Abnormal small intestine morphology, Sinusitis, Severe periodontitis, Pneumonia, Lymphadenitis, R... ORPHA:51636
Coffin-Lowry Syndrome
Abnormality of retinal pigmentation, Optic atrophy, Cerebral cortical atrophy ORPHA:192
Myopathy, Tubular Aggregate, 1
Nyctalopia OMIM:160565
Marburg Hemorrhagic Fever
Lymphopenia, Reticulocytosis, Pericarditis, Maculopapular exanthema, Skin rash, Orchitis, Jaundic... ORPHA:99826
Aicardi Syndrome
Retinal detachment, Abnormality of retinal pigmentation, Optic disc coloboma, Optic atrophy, Abno... ORPHA:50
Waardenburg Syndrome, Type 1
White eyelashes, Partial albinism, White eyebrow, Blue irides, Premature graying of hair, Aplasia... OMIM:193500
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Retinal degeneration OMIM:208500
Osteopetrosis, Autosomal Recessive 9
Papilledema, Reduced visual acuity, Anemia OMIM:620366
Primary Triglyceride Deposit Cardiomyovasculopathy
Hepatomegaly, Inflammatory abnormality of the skin, Splenomegaly, Vacuolated lymphocytes, Pancrea... ORPHA:565612
Fuchs Endothelial Corneal Dystrophy
Visual loss, Nyctalopia, Reduced visual acuity ORPHA:98974
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria
Decreased nerve conduction velocity, Elevated circulating creatine kinase concentration, Abnormal... ORPHA:1933
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Villous atrophy, Glomerulonephritis, Eczema, Ileus, Increased circulating IgE level, Hepatitis, A... OMIM:304790
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Hepatomegaly, Anisocytosis, Splenomegaly, Jaundice, Hepatosplenomegaly, Decreased mean corpuscula... OMIM:616860
Ophthalmomandibulomelic Dysplasia
Blindness ORPHA:2741
Cockayne Syndrome Type 1
Hepatomegaly, Absent brainstem auditory responses, Hypermelanotic macule, Cryptorchidism, Optic a... ORPHA:90321
Citrullinemia Type Ii
Hepatomegaly, Hepatic fibrosis, Hepatocellular carcinoma, Hepatic steatosis, Pancreatitis ORPHA:247585
Trichothiodystrophy
Macular degeneration, Numerous pigmented freckles, Diffuse cerebellar atrophy, Cerebral cortical ... ORPHA:33364
Bile Acid Synthesis Defect, Congenital, 4
Giant cell hepatitis, Hematochezia, Decreased serum bile acid concentration, Hyperbilirubinemia, ... OMIM:214950
Beta-Thalassemia
Hepatomegaly, Hypogonadotropic hypogonadism, Abnormal hemoglobin, Microcytic anemia, Thrombocytop... ORPHA:848
Cerebroretinal Microangiopathy With Calcifications And Cysts 1
Blindness, Retinal telangiectasia, Optic atrophy, Anemia, Exudative retinopathy, Premature grayin... OMIM:612199
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies
Retinal dystrophy, Optic nerve hypoplasia, Leukocytosis, Nyctalopia, Optic atrophy, Hypoplasia of... OMIM:619321
Cockayne Syndrome Type 3
Optic disc pallor, Retinal atrophy, Retinal dystrophy, Retinal hemorrhage, Premature graying of h... ORPHA:90324
Chromosome 8Q21.11 Deletion Syndrome
Pigmentary retinopathy OMIM:614230
Portal Hypertension, Noncirrhotic, 1
Splenomegaly, Hepatomegaly, Portal hypertension OMIM:617068
Familial Chylomicronemia Syndrome
Acute pancreatitis, Perianal abscess, Jaundice, Hepatosplenomegaly, Recurrent pancreatitis, Hepat... ORPHA:444490
Familial Mediterranean Fever
Pericarditis, Skin rash, Orchitis, Splenomegaly, Osteoarthritis, Peritonitis, Arthritis, Erysipel... ORPHA:342
Mirizzi Syndrome
Pancreatitis, Jaundice, Cholesterol gallstones, Cholelithiasis, Abnormal ductus choledochus morph... ORPHA:521219
Isolated Complex I Deficiency
Hepatomegaly, Blindness, Optic disc pallor, Optic neuropathy ORPHA:2609
Anemia, Congenital Dyserythropoietic, Type Ii
Reticulocytosis, Anemia of inadequate production, Splenomegaly, Jaundice, Cholelithiasis OMIM:224100
Mucopolysaccharidosis Type 2
Papilledema, Abnormality of retinal pigmentation, Abnormal foveal morphology, Decreased nerve con... ORPHA:580
Autosomal Dominant Optic Atrophy And Cataract
Cerebellar atrophy, Blindness, Red-green dyschromatopsia, Central scotoma, Optic atrophy, Reduced... ORPHA:67036
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Abnormality of retinal pigmentation, Patent ductus arteriosus, Optic atrophy, Increased circulati... ORPHA:505248
Crimean-Congo Hemorrhagic Fever
Hyperhidrosis, Leukopenia, Increased circulating IgG level, Conjunctivitis, Cholecystitis, Morbil... ORPHA:99827
Müllerian Aplasia And Hyperandrogenism
Hypoplasia of the uterus, Abnormal vagina morphology, Abnormality of the ovary, Primary amenorrhea ORPHA:247768
Aprosencephaly And Cerebellar Dysgenesis
Retinal dysplasia OMIM:601374
Stevens-Johnson Syndrome
Abnormality of neutrophils, Thrombocytopenia, Conjunctivitis, Pancreatitis, Anemia ORPHA:36426
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z
Abnormality of peripheral somatosensory evoked potentials, Abnormality of retinal pigmentation, C... ORPHA:466768
Behçet Disease
Increased inflammatory response, Myositis, Pericarditis, Acne, Orchitis, Splenomegaly, Retrobulba... ORPHA:117
Trigonocephaly 1
High, narrow palate, Meckel diverticulum OMIM:190440
Martinez-Frias Syndrome
Intestinal hypoplasia, Jejunal atresia, Intestinal malrotation, Tracheoesophageal fistula, Duoden... OMIM:601346
Multiple Acyl-Coa Dehydrogenase Deficiency
Hepatomegaly, Hepatic periportal necrosis, Acute pancreatitis ORPHA:26791
Toxic Epidermal Necrolysis
Anemia, Conjunctivitis, Neutropenia, Pancreatitis, Thrombocytopenia ORPHA:537
Congenital Disorder Of Glycosylation, Type Ih
Elevated circulating creatinine concentration, Protein-losing enteropathy, Hypoalbuminemia OMIM:608104
Hemoglobin E Disease
Drug-sensitive hemolytic anemia, Abnormal hemoglobin, Anemia of inadequate production, Splenomega... ORPHA:2133
Cystic Fibrosis
Hepatomegaly, Recurrent pneumonia, Biliary cirrhosis, Bronchiectasis, Hepatosplenomegaly, Cirrhos... OMIM:219700
Axenfeld-Rieger Syndrome, Type 2
Cryptorchidism, Blindness, Hypospadias OMIM:601499
Mungan Syndrome
Barrett esophagus, Intestinal pseudo-obstruction, Megaduodenum, Hypoperistalsis OMIM:611376
Posterior Polymorphous Corneal Dystrophy
Very low visual acuity, Chorioretinal degeneration, Amblyopia, Reduced visual acuity, Photophobia... ORPHA:98973
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome
Blindness, Hypoplasia of penis, External genital hypoplasia, Amblyopia, Cryptorchidism, Visual lo... ORPHA:2250
Ophthalmomandibulomelic Dysplasia
Blindness OMIM:164900
Cockayne Syndrome
Cerebellar atrophy, Abnormality of retinal pigmentation, Optic disc pallor, Retinal atrophy, Reti... ORPHA:191
Peroxisome Biogenesis Disorder 5A (Zellweger)
Intrahepatic biliary dysgenesis, Hepatomegaly, Cerebellar atrophy, Hypospadias, Brushfield spots,... OMIM:614866
Farber Disease
Macular degeneration, Cherry red spot of the macula, Brain atrophy ORPHA:333
Gm1 Gangliosidosis Type 1
Cherry red spot of the macula, Blindness, Diffuse cerebral atrophy, Hepatosplenomegaly ORPHA:79255
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Splenomegaly, Hepatic steatosis, Pancreatitis, Hepatomegaly ORPHA:280365
Camptobrachydactyly
Septate vagina ORPHA:1319
Aregenerative Anemia
Pancytopenia, Erythroid hypoplasia, Reticulocytopenia, Bone marrow hypocellularity, Neutropenia, ... ORPHA:101096
Pierson Syndrome
Retinal detachment, Blindness, Remnants of the hyaloid vascular system, Retinal hemorrhage, High ... OMIM:609049
Immunodeficiency 31C
Villous atrophy, Osteomyelitis, Eczema, Bronchiectasis, Chronic mucocutaneous candidiasis, Gastro... OMIM:614162
Mitochondrial Complex I Deficiency, Nuclear Type 1
Cerebellar atrophy, Hepatomegaly, Blindness, Optic disc pallor, Hypospadias, Optic neuropathy, Sp... OMIM:252010
Camptobrachydactyly
Septate vagina OMIM:114150
Gm2-Gangliosidosis, Ab Variant
Blindness, Neurodegeneration, Cerebral atrophy OMIM:272750
Trichohepatoneurodevelopmental Syndrome
Hepatomegaly, Splenomegaly, Patent ductus arteriosus, Recurrent pancreatitis, Recurrent otitis me... OMIM:618268
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Bifid scrotum, Male infertility, Hypospadias, Precocious puberty in females, Bilateral cryptorchi... ORPHA:90793
Fixed Drug Eruption
Vaginal mucosal ulceration, Hyperpigmentation of the skin ORPHA:293812
Infection-Related Hemolytic Uremic Syndrome
Hemolytic anemia, Brain abscess, Acute colitis, Pneumonia, Myocarditis, Leukocytosis, Septic arth... ORPHA:544482
Seckel Syndrome 10
Acute pancreatitis, Elevated hemoglobin A1c, Elevated circulating luteinizing hormone level, Elev... OMIM:617253
Xq21 Microdeletion Syndrome
Abnormal chorioretinal morphology, Chorioretinal degeneration, Reticular pigmentary degeneration,... ORPHA:1435
Methylmalonic Aciduria And Homocystinuria, Cblc Type
Pigmentary retinopathy, Cerebral cortical atrophy OMIM:277400
Thoraco-Abdominal Enteric Duplication
Intestinal malrotation, Duodenal stenosis ORPHA:1759
Cholestasis, Progressive Familial Intrahepatic, 9
Hepatomegaly, Malformation of the hepatic ductal plate, Portal hypertension, Intrahepatic cholest... OMIM:619849
Biotinidase Deficiency
Hepatomegaly, Diffuse cerebral atrophy, Splenomegaly, Visual loss, Optic atrophy, Diffuse cerebel... OMIM:253260
Osteopetrosis, Autosomal Recessive 5
Hepatomegaly, Pancytopenia, Extramedullary hematopoiesis, Optic disc pallor, Facial palsy, Thromb... OMIM:259720
Colonic Atresia
Peptic ulcer, Colonic atresia, Duodenal stenosis ORPHA:1198
Momo Syndrome
Blindness, Chorioretinal coloboma ORPHA:2563
X-Linked Cerebral Adrenoleukodystrophy
Male hypogonadism, Blindness, Reduced visual acuity, Global brain atrophy ORPHA:139396
Congenital Bile Acid Synthesis Defect Type 2
Giant cell hepatitis, Conjugated hyperbilirubinemia, Abnormal serum bile acid concentration, Hype... ORPHA:79303
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Generalized hyperpigmentation, Female external genitalia in individual with 46,XY karyotype, Cryp... ORPHA:168558
Dysbetalipoproteinemia
Hepatic steatosis, Acute pancreatitis, Hepatomegaly, Gout, Hypothyroidism ORPHA:412
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Decreased circulating IgG level, Hepatomegaly, Decreased proportion of CD8-positive T cells, Incr... ORPHA:508533
Ectodermal Dysplasia-Blindness Syndrome
Abnormality of vision, Abnormality of skin pigmentation, Blindness ORPHA:1806
Cholestasis, Progressive Familial Intrahepatic, 2
Conjugated hyperbilirubinemia, Fat malabsorption, Hepatocellular carcinoma OMIM:601847
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Hepatomegaly, Generalized lymphadenopathy, Aplasia of the thymus, Eosinophilia, Genital ulcers, S... OMIM:602450
Peroxisome Biogenesis Disorder 1A (Zellweger)
Optic disc pallor, Brushfield spots, Patent ductus arteriosus, Pigmentary retinopathy, Cerebral c... OMIM:214100
Asparagine Synthetase Deficiency
Blindness, Caudate atrophy, Optic nerve hypoplasia, Cerebral visual impairment, Global brain atrophy OMIM:615574
Trichohepatoenteric Syndrome 2
Villous atrophy, Colitis, Decreased serum iron, Chronic hepatitis OMIM:614602
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Generalized hyperpigmentation, Female external genitalia in individual with 46,XY karyotype, Cryp... ORPHA:289548
Chronic Mucocutaneous Candidiasis
Abnormality of vision, Dyspareunia, Abnormal vagina morphology, Hepatitis ORPHA:1334
Linear Skin Defects With Multiple Congenital Anomalies 1
Hypospadias, Ovotestis, High myopia, Hypoplasia of the uterus, Pigmentary retinopathy, Chordee, M... OMIM:309801
Johanson-Blizzard Syndrome
Hypoplasia of penis, Hypospadias, Abnormality of the pancreas, Abnormal vagina morphology, Abnorm... ORPHA:2315
Vici Syndrome
Decreased circulating IgG level, Decreased circulating IgG2 level, Decreased T cell activation, C... OMIM:242840
Arima Syndrome
Hepatomegaly, Blindness, Retinal dystrophy, Optic atrophy, Hepatic fibrosis, Cirrhosis, Chorioret... OMIM:243910
Juvenile Polyposis Of Infancy
Gastrointestinal hemorrhage, High, narrow palate, Rectal prolapse, Adenomatous colonic polyposis,... ORPHA:79076
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency
Hypoplasia of the vagina, Hypospadias, Hypergonadotropic hypogonadism, Dysmenorrhea, Decreased fe... ORPHA:90796
Hermansky-Pudlak Syndrome
Hypopigmentation of hair, Partial albinism, Ocular albinism, Melanocytic nevus, Abnormal optic ne... ORPHA:79430
Alport Syndrome
Macular degeneration, Retinal flecks ORPHA:63
Interstitial Cystitis
Dyspareunia, Abnormal vagina morphology, Abnormal labia morphology, Abnormality of the menstrual ... ORPHA:37202
Mucopolysaccharidosis Type 2, Severe Form
Papilledema, Abnormality of retinal pigmentation, Abnormal foveal morphology, Splenomegaly, Nycta... ORPHA:217085
Infantile Nephropathic Cystinosis
Pigmentary retinopathy ORPHA:411629
Glycogen Storage Disease Ia
Hepatomegaly, Pancreatitis, Gout, Hepatocellular carcinoma OMIM:232200
Nijmegen Breakage Syndrome
Conjunctival telangiectasia, Retinal pigment epithelial mottling, Progressive vitiligo, Neurodege... OMIM:251260
Silver-Russell Syndrome
Abnormality of male external genitalia, Hypospadias, Precocious puberty, Cryptorchidism, Cafe-au-... ORPHA:813
Hydranencephaly
Blindness, Optic nerve hypoplasia, Chorioretinal atrophy, Abnormality of vision, Cerebral cortica... ORPHA:2177
Developmental Malformations-Deafness-Dystonia Syndrome
Blindness ORPHA:79107
Dehydrated Hereditary Stomatocytosis 2
Hepatomegaly, Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Jaundice, Increase... OMIM:616689
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction
Hypoparathyroidism, Aplasia of the thymus, Decreased response to growth hormone stimulation test,... OMIM:618223
Glycogen Storage Disease Ic
Hepatomegaly, Stomatitis, Cyclic neutropenia, Chronic pancreatitis, Gout, Inflammation of the lar... OMIM:232240
Cln5 Disease
Cerebellar atrophy, Atrophy/Degeneration affecting the central nervous system, Corpus callosum at... ORPHA:228360
Sympathetic Ophthalmia
Papilledema, Retinal detachment, Vitreous floaters, Poliosis, Vitritis, Reduced visual acuity, Re... ORPHA:79098
Mucopolysaccharidosis Type 2, Attenuated Form
Papilledema, Abnormality of retinal pigmentation, Abnormal foveal morphology, Splenomegaly, Nycta... ORPHA:217093
Hennekam Lymphangiectasia-Lymphedema Syndrome 3
Protein-losing enteropathy OMIM:618154
Diarrhea 10, Protein-Losing Enteropathy Type
Hyponatremia, Hypertriglyceridemia, Decreased circulating antibody level, Hematochezia, Hypoalbum... OMIM:618183
X-Linked Cerebral-Cerebellar-Coloboma Syndrome
Meckel diverticulum, Dysphagia ORPHA:163961
8P11.2 Deletion Syndrome
Hemolytic anemia, Hypoplasia of penis, Hypogonadotropic hypogonadism, Retinal dystrophy, Splenome... ORPHA:251066
Mogs-Cdg
Absent brainstem auditory responses, Fair hair, Optic atrophy, Decreased circulating antibody lev... ORPHA:79330
Dysosteosclerosis
Blindness, Facial paralysis, Optic atrophy OMIM:224300
Hypocalciuric Hypercalcemia, Familial, Type Iii
Primary hyperparathyroidism, Pancreatitis OMIM:600740
Igg4-Related Submandibular Gland Disease
Eosinophilia, Increased circulating IgG4 level, Autoimmunity, Cholangitis, Retroperitoneal fibros... ORPHA:449432
Mitochondrial Dna-Associated Leigh Syndrome
Pigmentary retinopathy, Rod-cone dystrophy, Optic atrophy ORPHA:255210
Meningioma
Bitemporal hemianopia, Blindness, Papilledema, Hypogonadotropic hypogonadism, Facial palsy, Slow ... ORPHA:2495
Spherocytosis, Type 5
Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Abnormal platelet count... OMIM:612690
Neurofibromatosis Type 1
Myopia, Abnormality of retinal pigmentation, Generalized hyperpigmentation, Precocious puberty, C... ORPHA:636
Tubulointerstitial Nephritis And Uveitis Syndrome
Papilledema, Abnormality of retinal pigmentation, Choroidal neovascularization, Elevated circulat... ORPHA:91500
Anemia, Congenital Dyserythropoietic, Type Iv
Decreased hemoglobin concentration, Hemolytic anemia, Circulating nucleated red blood cells, Reti... OMIM:613673
Nephronophthisis 19
Hepatomegaly, Malformation of the hepatic ductal plate, Splenomegaly, Cholestasis, Bile duct prol... OMIM:616217
Rodrigues Blindness
Blindness OMIM:268320
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome
Aplasia of the vagina, Optic nerve hypoplasia, Aplasia of the uterus, Cerebral visual impairment ORPHA:457284
Charcot-Marie-Tooth Disease, Type 4D
Decreased nerve conduction velocity, Abnormal auditory evoked potentials, Abnormality of visual e... OMIM:601455
Trisomy 18
Abnormality of retinal pigmentation ORPHA:3380
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome
Abnormality of visual evoked potentials ORPHA:1389
Bohring-Opitz Syndrome
Retinal atrophy, Optic atrophy ORPHA:97297
Toe Syndactyly, Telecanthus, And Anogenital And Renal Malformations
Septate vagina, High myopia, Bicornuate uterus, Rectovaginal fistula, Labial hypoplasia, Clitoral... OMIM:300707
Osteopetrosis With Renal Tubular Acidosis
Cranial nerve compression, Retinal atrophy, Optic atrophy, Abnormal retinal morphology ORPHA:2785
Melas
Optic atrophy, Pigmentary retinopathy, Brain atrophy, Cerebral cortical atrophy, Vitiligo ORPHA:550
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13
Blindness, Optic nerve dysplasia, Retinal dysplasia, Micropenis, Decreased testicular size OMIM:615287
Duplication Of Urethra
Bifid scrotum, Hypospadias, Septate vagina, Epispadias, Coronal hypospadias, Uterus didelphys, Ch... ORPHA:237
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1
Blindness OMIM:603387
Spondylocarpotarsal Synostosis Syndrome
Abnormality of retinal pigmentation OMIM:272460
Joubert Syndrome 5
Congenital blindness, Rod-cone dystrophy, Retinal coloboma, Reduced visual acuity OMIM:610188
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis
Retinal pigment epithelial mottling, Atrophy/Degeneration involving the spinal cord OMIM:607459
Say-Barber-Miller Syndrome
Macular degeneration, Rod-cone dystrophy, Optic atrophy ORPHA:3132
Familial Hypocalciuric Hypercalcemia
Pancreatitis, Autoimmunity ORPHA:405
Chylomicron Retention Disease
Fat malabsorption, Hypertriglyceridemia, Hypocholesterolemia, Steatorrhea ORPHA:71
Oculogastrointestinal Neurodevelopmental Syndrome
Vaginal fistula OMIM:619318
Mckusick-Kaufman Syndrome
Aganglionic megacolon, Cryptorchidism, Hydrometrocolpos, Glandular hypospadias, Urogenital sinus ... ORPHA:2473
Bartter Syndrome, Type 2, Antenatal
Impaired platelet aggregation OMIM:241200
Cockayne Syndrome B
Abnormal auditory evoked potentials, Decreased nerve conduction velocity, Optic atrophy, Cerebral... OMIM:133540
Trichothiodystrophy 3, Photosensitive
Pyloric stenosis, Meckel diverticulum, Increased circulating IgA level OMIM:616395
Proprotein Convertase 1/3 Deficiency
Villous atrophy, Malabsorption OMIM:600955
Erythrocytosis, Familial, 8
Splenomegaly, Increased hematocrit, Polycythemia, Increased hemoglobin OMIM:222800
Meacham Syndrome
Accessory spleen, Septate vagina, Male pseudohermaphroditism, Blind vagina, Bicornuate uterus, En... OMIM:608978
Cartilage-Hair Hypoplasia
Abnormality of retinal pigmentation, Aganglionic megacolon, Decreased circulating antibody level ORPHA:175
Sclerosing Cholangitis, Neonatal
Hepatomegaly, Portal hypertension, Hepatic bridging fibrosis, Splenomegaly, Jaundice, Biliary cir... OMIM:617394
Cholestasis, Progressive Familial Intrahepatic, 1
Conjugated hyperbilirubinemia, Fat malabsorption OMIM:211600
Fetal And Neonatal Alloimmune Thrombocytopenia
Blindness, Neonatal alloimmune thrombocytopenia ORPHA:853
Osteopetrosis, Autosomal Recessive 7
Hepatomegaly, Splenomegaly, Optic atrophy, Progressive visual loss, Optic nerve compression, Anemia OMIM:612301
Osteoporosis-Pseudoglioma Syndrome
Blindness, Retinal calcification, Exudative retinopathy, Vitreoretinopathy, Congenital blindness OMIM:259770
Yellow Fever
Acute pancreatitis, Neutrophilia, Skin rash, Leukocytosis, Jaundice, Pancreatic hyperplasia, Incr... ORPHA:99829
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency
Normocytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Normochromic anemia, Cholecystitis, N... OMIM:235700
Khan-Khan-Katsanis Syndrome
Pigmentary retinopathy OMIM:618460
Congenital Bile Acid Synthesis Defect Type 3
Fat malabsorption, Hyperbilirubinemia ORPHA:79302
Cogan Syndrome
Blindness, Leukocytosis, Reduced visual acuity, Photophobia, Thrombocytosis, Anemia ORPHA:1467
Pineoblastoma
Papilledema, Progressive visual field defects, Reduced visual acuity, Retinoblastoma, Amaurosis f... ORPHA:251909
Ichthyosis, Spastic Quadriplegia, And Impaired Intellectual Development
Abnormality of visual evoked potentials, Brain atrophy OMIM:614457
Autoerythrocyte Sensitization Syndrome
Thrombocytosis, Impaired platelet adhesion, Autoimmune thrombocytopenia ORPHA:324636
Progeria-Short Stature-Pigmented Nevi Syndrome
Neoplasm of the pancreas, T lymphocytopenia, Hepatic steatosis, Microcytic anemia ORPHA:2959
Pyruvate Kinase Deficiency Of Red Cells
Reticulocytosis, Decreased hemoglobin concentration, Hepatomegaly, Reduced red cell pyruvate kina... OMIM:266200
Webb-Dattani Syndrome
Cryptorchidism, Blindness OMIM:615926
Microvillus Inclusion Disease
Villous atrophy, Abnormal small intestinal villus morphology ORPHA:2290
Visceral Myopathy 1
Intestinal pseudo-obstruction, Aganglionic megacolon, Pancreatitis, Dysphagia, Megaduodenum, Micr... OMIM:155310
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Rectal prolapse, Narrow palate, Protein-losing enteropathy, Hypoalbuminemia, Intestinal lymphangi... OMIM:235510
White-Sutton Syndrome
Optic nerve hypoplasia, Patent ductus arteriosus, Cerebral atrophy, Abnormality of visual evoked ... OMIM:616364
Cog8-Cdg
Protein-losing enteropathy ORPHA:95428
Hand-Foot-Genital Syndrome
Bifid scrotum, Hypospadias, Uterus didelphys, Chordee, Longitudinal vaginal septum, Micropenis OMIM:140000
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Cleft palate, High palate, Hypocalcemia, Protein-losing enteropathy, Hypoproteinemia OMIM:235255
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency
Hypoplasia of the vagina, Clitoral hypertrophy, Hyperpigmentation of the skin, Ambiguous genitali... OMIM:202010
Norrie Disease
Retinal detachment, Blindness, Abnormal chorioretinal morphology, Remnants of the hyaloid vascula... ORPHA:649
Juvenile Polyposis Syndrome
Gastrointestinal hemorrhage, Small intestinal polyposis, Juvenile gastrointestinal polyposis, Hyp... ORPHA:2929
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome
Cone/cone-rod dystrophy, Optic disc pallor, Cerebellar atrophy, Optic atrophy, Cerebral atrophy, ... ORPHA:404454
Smith-Lemli-Opitz Syndrome
Bifid scrotum, Hepatomegaly, Cerebellar atrophy, Small scrotum, Hypospadias, Aganglionic megacolo... OMIM:270400
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities
Hypospadias, Cryptorchidism, Hypermetropia, Hydrocele testis, Chordee, High hypermetropia, Hemato... OMIM:619522
Oculoskeletodental Syndrome
Macroglossia, Hypercalcemia, Protein-losing enteropathy, Hypocalcemia OMIM:618440
Cat Eye Syndrome
Anal stenosis, Intestinal malrotation, Rectal fistula, Rectal atresia, Cleft palate, Volvulus, Me... OMIM:115470
Chronic Myeloid Leukemia
Splenomegaly, Leukocytosis, Abnormal granulocyte morphology, Myeloproliferative disorder, Thrombo... ORPHA:521
Familial Adenomatous Polyposis
Cholangiocarcinoma, Pancreatic adenocarcinoma, Thyroiditis, Neoplasm of the gallbladder, Hepatobl... ORPHA:733
Atypical Werner Syndrome
Abnormality of retinal pigmentation, Patchy hypo- and hyperpigmentation, Premature graying of hai... ORPHA:79474
Overhydrated Hereditary Stomatocytosis
Hemolytic anemia, Reticulocytosis, Decreased mean corpuscular hemoglobin concentration, Anisocyto... ORPHA:3203
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate
Micropenis, Vaginal dryness, Hypospadias, Hyperpigmentation of the skin OMIM:106260
Mucopolysaccharidosis, Type Iiid
Cerebellar atrophy, Hepatomegaly, Splenomegaly, Nyctalopia, Visual impairment OMIM:252940
Nephronophthisis-Like Nephropathy 1
Pancreatic cysts, Chronic pancreatitis OMIM:613159
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1
Retinal detachment, Myopia, Blindness OMIM:225400
Leprosy
Blindness, Abnormality of the spleen, Abnormality of the seventh cranial nerve, Testicular mass, ... ORPHA:548
Leukocyte Adhesion Deficiency
Bone marrow hypocellularity, Abnormality of neutrophil physiology, Impaired neutrophil chemotaxis... ORPHA:2968
Dermatoosteolysis, Kirghizian Type
Nyctalopia ORPHA:1657
Proteus Syndrome
Myopia, Thymus hyperplasia, Abnormality of retinal pigmentation, Generalized hyperpigmentation, C... ORPHA:744
Igg4-Related Dacryoadenitis And Sialadenitis
Blindness, Retroperitoneal fibrosis, Lymphadenopathy, Abnormal optic nerve morphology, Optic nerv... ORPHA:79078
Recessive Dystrophic Epidermolysis Bullosa Inversa
Vaginal stricture, Anemia ORPHA:79409
Spherocytosis, Type 1
Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Cholelithiasis OMIM:182900
Thrombocytopenia, Anemia, And Myelofibrosis
Anemia, Splenomegaly, Anisopoikilocytosis, Thrombocytopenia OMIM:617441
Amoebiasis Due To Free-Living Amoebae
Blindness, Facial palsy, Visual loss, Diplopia, Photophobia, Increased red blood cell count ORPHA:68
Spherocytosis, Type 4
Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis OMIM:612653
Spherocytosis, Type 2
Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Jaundice, Spherocytosis OMIM:616649
Metachromatic Leukodystrophy, Adult Form
Decreased nerve conduction velocity, Optic atrophy, Orthostatic hypotension due to autonomic dysf... ORPHA:309271
Senior-Loken Syndrome 3
Visual loss, Congenital blindness OMIM:606995
Pericardial And Diaphragmatic Defect
Meckel diverticulum, Intestinal malrotation, Abnormal gastrointestinal tract morphology ORPHA:2847
Chand Syndrome
Imperforate hymen ORPHA:1401
Pearson Syndrome
Hepatomegaly, Reticulocytosis, Pancytopenia, Pancreatic fibrosis, Hyperpigmentation of the skin, ... ORPHA:699
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly
Retinal dystrophy, Rod-cone dystrophy, Macular degeneration, Fair hair, Attenuation of retinal bl... OMIM:266920
Hyperparathyroidism-Jaw Tumor Syndrome
Pancreatic adenocarcinoma, Primary hyperparathyroidism, Pancreatitis ORPHA:99880
Mucoepithelial Dysplasia, Hereditary
Photophobia, Blindness, Eosinophilia OMIM:158310
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Reticulocytosis, Hepatomegaly, Splenomegaly, Jaundice, Increased mean corpuscular hemoglobin conc... OMIM:194380
Ruvalcaba Syndrome
Abnormality of visual evoked potentials, Hypopigmented skin patches ORPHA:3121
Parathyroid Carcinoma
Pancreatic adenocarcinoma, Primary hyperparathyroidism, Pancreatitis ORPHA:143
Cryohydrocytosis
Splenomegaly, Hemolytic anemia, Stomatocytosis, Reticulocytosis OMIM:185020
Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease
Hepatomegaly, Hypopigmentation of hair, Aganglionic megacolon, Splenomegaly, Hypopigmented skin p... ORPHA:163746
Ulnar-Mammary Syndrome
Small scrotum, Bicornuate uterus, Shawl scrotum, Micropenis, Imperforate hymen OMIM:181450
Hepatoerythropoietic Porphyria
Hemolytic anemia, Blindness, Splenomegaly, Erythroid hyperplasia, Hypopigmentation of the skin, H... ORPHA:95159
Lipodystrophy, Congenital Generalized, Type 2
Hepatomegaly, Acute pancreatitis, Elevated hemoglobin A1c, Splenomegaly, Cirrhosis, Hepatic steat... OMIM:269700
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Dominant
Photophobia, Blindness OMIM:148210
Hardikar Syndrome
Hepatomegaly, Intrahepatic bile duct cysts, Cholangitis, Portal hypertension, Hypersplenism, Port... OMIM:301068
Congenital Alveolar Capillary Dysplasia
Aganglionic megacolon, Intestinal malrotation, Tracheoesophageal fistula, Duodenal stenosis, Volv... ORPHA:210122
Overhydrated Hereditary Stomatocytosis
Hepatomegaly, Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Stomatocytosis, Increase... OMIM:185000
Lipodystrophy, Congenital Generalized, Type 1
Hepatomegaly, Acute pancreatitis, Splenomegaly, Cirrhosis, Hepatic steatosis OMIM:608594
Parenteral Nutrition-Associated Cholestasis
Villous atrophy, Conjugated hyperbilirubinemia, Abnormal circulating fatty-acid concentration, Hy... ORPHA:567983
Congenital Erythropoietic Porphyria
Hemolytic anemia, Reticulocytosis, Blindness, Hyperpigmentation of the skin, Anisocytosis, Spleno... ORPHA:79277
Wiskott-Aldrich Syndrome
Prolonged bleeding time, Thrombocytopenia, Abnormal platelet function, Abnormal platelet morphology ORPHA:906
Serkal Syndrome
Malrotation of small bowel ORPHA:139466
Lipodystrophy, Familial Partial, Type 2
Hepatomegaly, Acute pancreatitis, Hepatic steatosis OMIM:151660
Dpagt1-Cdg
Hepatomegaly, Nyctalopia, Optic atrophy, Diffuse optic disc pallor, Rod-cone dystrophy, Global br... ORPHA:86309
Sarcoidosis
Hemolytic anemia, Hepatomegaly, Blindness, Hyperpigmentation of the skin, Eosinophilia, Portal hy... ORPHA:797
Microphthalmia, Syndromic 2
Retinal detachment, Hypospadias, Remnants of the hyaloid vascular system, Septate vagina, Visual ... OMIM:300166
Elliptocytosis 1
Splenomegaly, Hemolytic anemia, Jaundice, Elliptocytosis OMIM:611804
Cerebrotendinous Xanthomatosis
Cerebellar atrophy, Optic disc pallor, Optic neuropathy, Abnormal auditory evoked potentials, Abn... ORPHA:909
Saul-Wilson Syndrome
Nyctalopia, Neutropenia OMIM:618150
Alagille Syndrome 1
Pigmentary retinopathy, Chorioretinal atrophy OMIM:118450
Plasminogen Deficiency, Type I
Blindness OMIM:217090
Blau Syndrome
Hyperpigmentation of the skin, Facial palsy, Abnormal retinal vascular morphology, Splenomegaly, ... ORPHA:90340
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum
Abnormal penis morphology, Blindness, Hyperpigmentation of the skin, Visual loss, Photophobia, Ne... ORPHA:95455
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Absent gallbladder, Micropenis, Uterus didelphys, Septate vagina OMIM:617925
Weill-Marchesani Syndrome 1
Blindness, High myopia OMIM:277600
Currarino Syndrome
Bicornuate uterus, Rectovaginal fistula, Septate vagina OMIM:176450
Stickler Syndrome
Retinal detachment, Myopia, Blindness, Abnormal vitreous humor morphology, Visual impairment ORPHA:828
Popliteal Pterygium Syndrome
Bifid scrotum, Hypoplasia of the vagina, Small scrotum, Cryptorchidism, Hypoplasia of the uterus,... OMIM:119500
Chromosome 17Q12 Deletion Syndrome
Cryptorchidism, Hypermetropia, Ovarian cyst, Aplasia of the vagina, Aplasia of the uterus, Unicor... OMIM:614527
Shwachman-Diamond Syndrome
Abnormality of the gastrointestinal tract, Sinusitis, Skin rash, Pneumonia, Eczema, Osteomyelitis... ORPHA:811
Adams-Oliver Syndrome 1
Imperforate hymen OMIM:100300
Pseudohypoparathyroidism Type 1A
Abnormal platelet function ORPHA:79443
Tarp Syndrome
Cleft palate, Tongue nodules, Glossoptosis, High palate, Meckel diverticulum OMIM:311900
Autosomal Recessive Polycystic Kidney Disease
Gastrointestinal hemorrhage, Cholangiocarcinoma, Hyponatremia, Cholangitis, Recurrent pneumonia, ... ORPHA:731
Alström Syndrome
Hypoplasia of the Leydig cells, Photophobia, Hepatic fibrosis, Micropenis, Hepatic steatosis, Hep... ORPHA:64
Osteootohepatoenteric Syndrome
Ileoileal intussusception, Villous atrophy, Increased intestinal transit time, Hypokalemia, Incre... OMIM:619377
Corneodermatoosseous Syndrome
Photophobia, Nyctalopia, Hemeralopia ORPHA:3194
Metachromatic Leukodystrophy
Abnormal stomach morphology, Abnormal duodenum morphology, Intussusception, Neoplasm of the gallb... ORPHA:512
Noonan Syndrome
Abnormal platelet function ORPHA:648
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies
Aplasia of the vagina, Aplasia of the uterus, Absent external genitalia OMIM:271520
Primary Sjögren Syndrome
Normocytic anemia, Vaginal dryness, Chronic active hepatitis, Abnormality of the peripheral nervo... ORPHA:289390
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1
Hypogonadotropic hypogonadism, Cryptorchidism, Transverse vaginal septum, Blue irides, Photophobi... OMIM:129900
Congenital Tracheal Stenosis
Abnormal stomach morphology, Tracheoesophageal fistula, Duodenal stenosis, Meckel diverticulum, A... ORPHA:141127
Musculocontractural Ehlers-Danlos Syndrome
High palate, Malrotation of small bowel, Recurrent skin infections, Cleft palate ORPHA:2953
Renpenning Syndrome 1
Blindness, Hypospadias, Phimosis, Hypermetropia, Cerebral atrophy, Decreased testicular size OMIM:309500
Microphthalmia, Syndromic 6
Myopia, Blindness, Small scrotum, Female hypogonadism, Retinal dystrophy, Cryptorchidism, Cerebra... OMIM:607932
Lipodystrophy, Familial Partial, Type 7
Pigmentary retinopathy, Orthostatic hypotension OMIM:606721
Johanson-Blizzard Syndrome
Hepatomegaly, Fair hair, Hypospadias, Portal hypertension, Septate vagina, Urethrovaginal fistula... OMIM:243800
17Q11 Microdeletion Syndrome
Blindness, Hypermelanotic macule, Precocious puberty, Retinal vascular proliferation, Abnormal ch... ORPHA:97685
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3
Hypogonadotropic hypogonadism, Cryptorchidism, Transverse vaginal septum, Blue irides, Photophobi... OMIM:604292
Scorpion Envenomation
Myocarditis, Acute pancreatitis, Hyperhidrosis ORPHA:466677
Neutral Lipid Storage Myopathy
Hepatomegaly, Hepatic steatosis, Cholecystitis, Chronic pancreatitis ORPHA:98908
Mayer-Rokitansky-Küster-Hauser Syndrome
Hypoplasia of the vagina, Aplasia of the uterus ORPHA:3109
Weill-Marchesani Syndrome 2
Blindness, High myopia OMIM:608328
Townes-Brocks Syndrome
Bifid scrotum, Hypoplasia of penis, Rectoperineal fistula, Hypospadias, Cryptorchidism, Abnormali... ORPHA:857
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Intestinal malrotation, Esophageal atresia, Tracheoesophageal fistula, Cleft palate, Congenital s... OMIM:265380
Glycerol Kinase Deficiency
Adrenal insufficiency, Chronic pancreatitis OMIM:307030
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy
Abnormality of visual evoked potentials, Highly elevated creatine kinase, Pontocerebellar atrophy... ORPHA:258
Dextrocardia
Meckel diverticulum, Intestinal malrotation ORPHA:1666
Tarp Syndrome
Glossoptosis, Tongue nodules, Cleft palate, Abnormal duodenum morphology ORPHA:2886
Liver Disease, Severe Congenital
Hyponatremia, Chronic gastritis, Pneumonia, Eczema, Elevated circulating alpha-fetoprotein concen... OMIM:619991
Ehlers-Danlos Syndrome, Musculocontractural Type, 1
Recurrent skin infections, Intestinal malrotation, Hiatus hernia, Cleft palate, High palate, Abno... OMIM:601776
Isolated Biliary Atresia
Conjugated hyperbilirubinemia, Acholic stools, Fat malabsorption ORPHA:30391
Acrocephalopolydactylous Dysplasia
Hypoplastic colon, Hypoplasia of the small intestine OMIM:200995
Fryns Syndrome
Aganglionic megacolon, Intestinal malrotation, Esophageal atresia, Cleft palate, Meckel diverticu... OMIM:229850
Pallister-Hall Syndrome
Small scrotum, Hypospadias, Precocious puberty, Cryptorchidism, Hydrometrocolpos, Aplasia/Hypopla... ORPHA:672
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Bifid scrotum, Myopia, Hypospadias, Aganglionic megacolon, Septate vagina, Asplenia, Cryptorchidi... ORPHA:261537
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Bifid scrotum, Myopia, Hypospadias, Aganglionic megacolon, Septate vagina, Asplenia, Cryptorchidi... ORPHA:261552
Mowat-Wilson Syndrome
Bifid scrotum, Myopia, Hypospadias, Aganglionic megacolon, Septate vagina, Asplenia, Cryptorchidi... ORPHA:2152
Autosomal Recessive Malignant Osteopetrosis
Abnormality of visual evoked potentials, Optic nerve compression ORPHA:667
Trichorhinophalangeal Syndrome, Type Ii
Bilateral cryptorchidism, Myopia, Hydrometrocolpos, Right ventricular hypertrophy OMIM:150230
Thrombocytopenia-Absent Radius Syndrome
Decreased circulating antibody level, Meckel diverticulum, Cleft palate, Seborrheic dermatitis OMIM:274000
Peters-Plus Syndrome
Hypoplasia of the vagina, Myopia, Hypospadias, Bilobate gallbladder, Cryptorchidism, Biliary trac... OMIM:261540
Chronic Graft Versus Host Disease
Pancytopenia, Phimosis, Abnormal vagina morphology, Photophobia, Abnormality of skin pigmentation... ORPHA:99921
Wiedemann-Rautenstrauch Syndrome
Pigmentary retinopathy, Optic atrophy, Optic disc hypoplasia ORPHA:3455
Menke-Hennekam Syndrome 1
Cryptorchidism, Blindness, Hypermetropia OMIM:618332
Fanconi Anemia
Aganglionic megacolon, Aplasia/Hypoplasia of the uvula, Tracheoesophageal fistula, Cleft palate, ... ORPHA:84
Hydrolethalus Syndrome 1
Accessory spleen, Abnormal vagina morphology, Hypospadias, Bifid uterus OMIM:236680
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)
Cerebellar atrophy, Cerebral cortical neurodegeneration, Cerebral atrophy, Abnormality of visual ... OMIM:203700
Autosomal Recessive Cutis Laxa Type 1
Pyloric stenosis, Small bowel diverticula, Recurrent pneumonia, Pyelonephritis ORPHA:90349
Viss Syndrome
Chronic gastritis, Duodenitis, Eczema, Intestinal malrotation, Cleft soft palate, Submucous cleft... OMIM:619472
Mosaic Trisomy 16
Anteriorly placed anus, Abnormality of the gastrointestinal tract, Meckel diverticulum ORPHA:1708
Aphalangy-Hemivertebrae-Urogenital-Intestinal Dysgenesis Syndrome
Abnormality of female external genitalia, Vaginal fistula, Persistent cloaca ORPHA:1112
Microphthalmia, Syndromic 1
Blindness, Hypospadias, Aganglionic megacolon, Cryptorchidism, Optic disc coloboma, Chorioretinal... OMIM:309800
Trisomy 8P
Malrotation of small bowel, Bifid uvula, Cleft palate ORPHA:264450
Autosomal Dominant Cutis Laxa
Small bowel diverticula, Bronchiectasis, Pyelonephritis ORPHA:90348
Wolf-Hirschhorn Syndrome
Malrotation of small bowel, Gastroesophageal reflux, Cleft palate OMIM:194190
Simpson-Golabi-Behmel Syndrome, Type 1
Exaggerated median tongue furrow, Intestinal malrotation, Cleft palate, Narrow palate, Macrogloss... OMIM:312870
Genitopatellar Syndrome
Anal stenosis, Malrotation of small bowel, Anteriorly placed anus, Dysphagia, Anal atresia OMIM:606170
Pallister-Killian Syndrome
Myopia, Small scrotum, Hypospadias, Cryptorchidism, Hyperpigmented streaks, Hypoplastic labia maj... OMIM:601803

Histopathology

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

There is no histopathology data for Mertk

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 Mertk.

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

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