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Gene: Epc2 MGI:1278321

Gene Summary

Name:

enhancer of polycomb homolog 2

Synonyms:

D2Ertd694e

Order Alleles

IMPC Data Collections

Body Weight Measurements
No Embryo Imaging Data
Viability Data

IMPC Phenotype Summary

Significant

Not Significant

Not tested

View all our phenotype data below

Phenotypes

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

Phenotype	Allele	Zyg	Life Stage	P Value
abnormal retina blood vessel morphology	Epc2^{tm1b(EUCOMM)Wtsi}	HET	Early adult	6.82×10^-07
abnormal retina morphology	Epc2^{tm1b(EUCOMM)Wtsi}	HET	Early adult	2.79×10^-05
abnormal vertebral arch morphology	Epc2^{tm1e(EUCOMM)Wtsi}	HET	Early adult	4.47×10^-05
abnormal retina pigmentation	Epc2^{tm1a(EUCOMM)Wtsi}	HOM	Early adult	4.95×10^-05
increased pulmonary respiratory rate	Epc2^{tm1b(EUCOMM)Wtsi}	HET	Early adult	8.39×10^-05
abnormal eye morphology	Epc2^{tm1a(EUCOMM)Wtsi}	HOM	Early adult	3.18×10^-06
increased respiratory quotient	Epc2^{tm1b(EUCOMM)Wtsi}	HET	Early adult	5.79×10^-05
increased circulating alkaline phosphatase level	Epc2^{tm1a(EUCOMM)Wtsi}	HOM	Early adult	8.85×10^-06
abnormal behavior	Epc2^{tm1b(EUCOMM)Wtsi}	HET	Early adult	6.41×10^-05
preweaning lethality, complete penetrance	Epc2^{tm1b(EUCOMM)Wtsi}	HOM	Early adult	7.56×10^-08
abnormal lens morphology	Epc2^{tm1b(EUCOMM)Wtsi}	HET	Early adult	1.59×10^-07
increased thigmotaxis	Epc2^{tm1b(EUCOMM)Wtsi}	HET	Early adult	6.41×10^-05
decreased body weight	Epc2^{tm1e(EUCOMM)Wtsi}	HET	Early adult	2.50×10^-09
increased mean corpuscular hemoglobin concentration	Epc2^{tm1e(EUCOMM)Wtsi}	HET	Early adult	6.51×10^-07
increased mean corpuscular volume	Epc2^{tm1e(EUCOMM)Wtsi}	HET	Early adult	2.08×10^-05
decreased total retina thickness	Epc2^{tm1b(EUCOMM)Wtsi}	HET	Early adult	2.28×10^-05
decreased lactate dehydrogenase level	Epc2^{tm1a(EUCOMM)Wtsi}	HOM	Early adult	3.01×10^-06
thrombocytopenia	Epc2^{tm1a(EUCOMM)Wtsi}	HOM	Early adult	2.38×10^-06
decreased locomotor activity	Epc2^{tm1b(EUCOMM)Wtsi}	HET	Early adult	6.82×10^-05
cataract	Epc2^{tm1b(EUCOMM)Wtsi}	HET	Early adult	1.53×10^-07

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lacZ Expression

Expression data not available

Associated Images

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

X-ray

XRay Images Whole Body Lateral Orientation

9 Images

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Electrocardiogram (ECG)

Waveform Image

24 Images

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X-ray

XRay Images Whole Body Dorso Ventral

9 Images

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Legacy Phenotype Associated Images

Epc2^{tm1e(EUCOMM)Wtsi}
forearm, WT, Male, WTSI

Epc2^{tm1e(EUCOMM)Wtsi}
forearm, HET, Male, WTSI

Epc2^{tm1e(EUCOMM)Wtsi}
body, WT, Male, WTSI

Epc2^{tm1e(EUCOMM)Wtsi}
head, WT, Male, WTSI

View all 189 images

Epc2^{tm1e(EUCOMM)Wtsi}
tail skin, HET, Female, WTSI

Epc2^{tm1e(EUCOMM)Wtsi}
tail skin, WT, Female, WTSI

Human diseases caused by Epc2 mutations

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

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

Human diseases associated with Epc2 (0 diseases)
Human diseases predicted to be associated with Epc2 (984 diseases)

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

The table below shows human diseases predicted to be associated to Epc2 by phenotypic similarity.

Disease	Matching phenotypes	Source
Hemoglobin D Disease	Anemia, Reduced alpha/beta synthesis ratio, HbS hemoglobin, Increased HbA2 hemoglobin, Reduced he...	ORPHA:90039
Anemia, Sideroblastic, 2, Pyridoxine-Refractory	Decreased mean corpuscular volume, Anemia, Sideroblastic anemia, Hypochromia	OMIM:205950
Hemoglobin-Delta locus	Imbalanced hemoglobin synthesis, Anemia	OMIM:142000
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1	Acute myeloid leukemia, Thrombocytopenia, Increased mean corpuscular volume	OMIM:252270
Choroidal Dystrophy, Central Areolar, 1	Chorioretinal atrophy, Choriocapillaris atrophy, Pigmentary retinopathy	OMIM:215500
Diamond-Blackfan Anemia 3	Reticulocytopenia, Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular vol...	OMIM:610629
Hemoglobin E-Beta-Thalassemia Syndrome	Anemia, Abnormal hemoglobin	ORPHA:231249
Congenital Amegakaryocytic Thrombocytopenia	Anemia, Short neck, Scoliosis, Thrombocytopenia, Abnormal hemoglobin, Abnormal form of the verteb...	ORPHA:3319
Thalassemia, Beta+, Silent Allele	Reduced beta/alpha synthesis ratio	OMIM:187550
Fetal Hemoglobin Quantitative Trait Locus 1	Persistence of hemoglobin F	OMIM:141749
Night Blindness, Congenital Stationary, Type 1D	Congenital stationary night blindness, Macular atrophy, Pigmentary retinopathy, Attenuation of re...	OMIM:613830
Hemoglobin E Disease	Increased red blood cell count, Reduced hemoglobin A, Drug-sensitive hemolytic anemia, Hypochromi...	ORPHA:2133
Retinitis Pigmentosa 36	Rod-cone dystrophy, Macular degeneration, Bone spicule pigmentation of the retina, Attenuation of...	OMIM:610599
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2	Acute myeloid leukemia, Anemia, Pancytopenia, Increased mean corpuscular volume, Thrombocytopenia...	OMIM:619041
Choroideremia	Choroideremia, Granular macular appearance, Retinal pigment epithelial mottling, Bone spicule pig...	OMIM:303100
Leber Congenital Amaurosis 13	Retinal dystrophy, Optic disc pallor, Bone spicule pigmentation of the retina, Attenuation of ret...	OMIM:612712
Retinal Dysplasia, Primary	Retinal dysplasia, Falciform retinal fold	OMIM:312550
Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities	Cataract, Rod-cone dystrophy	OMIM:300719
Intrinsic Factor Deficiency	Increased mean corpuscular volume, Increased RBC distribution width, Megaloblastic anemia, Megalo...	OMIM:261000
Nephronophthisis	Anemia, Abnormality of retinal pigmentation	ORPHA:655
Dehydrated Hereditary Stomatocytosis 2	Increased mean corpuscular hemoglobin concentration, Hemolytic anemia, Anisopoikilocytosis, Retic...	OMIM:616689
Delta-Beta-Thalassemia	Anemia, Abnormal hemoglobin, Microcytic anemia	ORPHA:231237
Acetophenetidin Sensitivity	Methemoglobinemia, Hemolytic anemia	OMIM:200300
Hemoglobin H Disease	HbH hemoglobin, Splenomegaly, Hemolytic anemia, Reduced alpha/beta synthesis ratio	OMIM:613978
Pentosuria	Abnormal circulating carbohydrate concentration, Abnormality of circulating enzyme level	ORPHA:2843
Beta-Thalassemia, Dominant Inclusion Body Type	Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, Persistence of he...	OMIM:603902
X-Linked Retinoschisis	Retinoschisis, Cataract	ORPHA:792
Hemoglobin C-Beta-Thalassemia Syndrome	Anemia, Abnormal hemoglobin, Splenomegaly, Microcytic anemia	ORPHA:231242
Bone Marrow Failure And Diabetes Mellitus Syndrome	T-cell acute lymphoblastic leukemias, Pancytopenia, Increased mean corpuscular volume	OMIM:620044
Retinopathy, Pericentral Pigmentary, Dominant	Retinopathy, Retinal atrophy, Retinal dystrophy, Bone spicule pigmentation of the retina, Attenua...	OMIM:180210
Thumb, Hypoplastic, With Choroid Coloboma, Poorly Developed Antihelix, And Deafness	Cataract, Chorioretinal coloboma	OMIM:274205
Sorsby Pseudoinflammatory Fundus Dystrophy	Retinal pigment epithelial atrophy, Pigmentary retinopathy, Hyporeflective spaces on macular OCT,...	ORPHA:59181
X-Linked Retinal Dysplasia	Retinal dysplasia, Abnormality of retinal pigmentation, Abnormal retinal vascular morphology	ORPHA:1852
Central Areolar Choroidal Dystrophy	Choriocapillaris atrophy, Hyperautofluorescent macular lesion, Retinal pigment epithelial mottlin...	ORPHA:75377
Foveal Hypoplasia-Presenile Cataract Syndrome	Cataract, Optic atrophy	ORPHA:2253
Methemoglobinemia, Beta Type	Methemoglobinemia	OMIM:617971
Methemoglobinemia, Alpha Type	Methemoglobinemia	OMIM:617973
Diamond-Blackfan Anemia 8	Increased mean corpuscular volume, Neutropenia, Macrocytic anemia	OMIM:612563
Familial Drusen	Macular drusen, Hypoautofluorescent macular lesion, Hyperautofluorescent macular lesion, Macular ...	ORPHA:75376
Anemia, Hypochromic Microcytic, With Iron Overload 1	Decreased mean corpuscular volume, Anemia, Hypochromia, Erythroid hyperplasia	OMIM:206100
Macular Dystrophy, Retinal, 2	Retinal pigment epithelial atrophy, Granular macular appearance, Perifoveal ring of hyperautofluo...	OMIM:608051
Hydrocephaly-Cerebellar Agenesis Syndrome	Cataract, Ataxia	ORPHA:1397
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis	Increased mean corpuscular volume, Elevated red cell adenosine deaminase level, Macrocytic anemia...	OMIM:300946
Grouped Pigmentation Of The Retina	Abnormality of retinal pigmentation	OMIM:233800
Cleft Lip-Retinopathy Syndrome	Retinopathy, Abnormality of retinal pigmentation	ORPHA:1995
Bardet-Biedl Syndrome 13	Rod-cone dystrophy, Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels	OMIM:615990
Familial Pseudohyperkalemia	Stomatocytosis, Episodic hemolytic anemia, Reticulocytosis, Increased mean corpuscular volume	ORPHA:90044
Persistent Placoid Maculopathy	Hypoplasia of the fovea, Retinal pigment epithelial mottling, Choroidal neovascularization, Abnor...	ORPHA:97341
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome	Anemia, Thrombocytopenia, Abnormal hemoglobin, Splenomegaly	ORPHA:231393
Sickle Cell Anemia	Hemolytic anemia, Reticulocytosis, Persistence of hemoglobin F, Chronic hemolytic anemia, Thrombo...	ORPHA:232
Hyperreflexia	Abnormality of retinal pigmentation	OMIM:145290
Retinitis Pigmentosa 39	Rod-cone dystrophy, Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels	OMIM:613809
Foveal Hypoplasia 1	Presenile cataracts, Hypoplasia of the fovea	OMIM:136520
Wagner Vitreoretinopathy	Retinal pigment epithelial atrophy, Exudative vitreoretinopathy, Optic atrophy, Vitreoretinopathy...	OMIM:143200
Liberfarb Syndrome	Retinal degeneration, Retinal pigment epithelial mottling, Optic disc pallor, Bone spicule pigmen...	OMIM:618889
Bone Marrow Failure Syndrome 6	Anemia, Lymphopenia, Persistence of hemoglobin F, Increased mean corpuscular volume, Neutropenia	OMIM:618849
Overhydrated Hereditary Stomatocytosis	Stomatocytosis, Hemolytic anemia, Abnormal mean corpuscular volume, Decreased mean corpuscular he...	ORPHA:3203
Birdshot Chorioretinopathy	Retinal thinning, Abnormal choroid morphology, Vitritis, Vitreous floaters, Choroidal neovascular...	ORPHA:179
Thrombocytopenic Purpura, Autoimmune	Thrombocytopenia	OMIM:188030
Thrombocytopenia 2	Thrombocytopenia, Leukocytosis	OMIM:188000
Night Blindness, Congenital Stationary, Autosomal Dominant 1	Congenital stationary night blindness, Bone spicule pigmentation of the retina	OMIM:610445
Iris Pigment Layer, Cleavage Of	Cataract, Peripheral retinal detachment	OMIM:147610
Alpha-Thalassemia Myelodysplasia Syndrome	Hypochromic microcytic anemia, HbH hemoglobin, Reduced alpha/beta synthesis ratio	OMIM:300448
Retinitis Pigmentosa 30	Rod-cone dystrophy, Optic atrophy, Bone spicule pigmentation of the retina, Attenuation of retina...	OMIM:607921
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome	Anemia, Splenomegaly, Persistence of hemoglobin F	ORPHA:46532
Exudative Vitreoretinopathy 6	Exudative vitreoretinopathy, Posterior vitreous detachment, Cataract, Chorioretinal atrophy, Reti...	OMIM:616468
Retinitis Pigmentosa 57	Rod-cone dystrophy, Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels...	OMIM:613582
Multiple Mitochondrial Dysfunctions Syndrome 5	Pigmentary retinopathy, Elevated circulating creatine kinase concentration	OMIM:617613
Bardet-Biedl Syndrome 18	Retinal dystrophy, Cataract, Rod-cone dystrophy	OMIM:615995
Retinitis Pigmentosa 32	Retinal degeneration, Bone spicule pigmentation of the retina, Attenuation of retinal blood vesse...	OMIM:609913
Coats Disease	Abnormal macular morphology, Aplasia/Hypoplasia of the iris, Cataract, Retinal detachment, Abnorm...	ORPHA:190
Retinitis Pigmentosa 33	Retinal pigment epithelial atrophy, Rod-cone dystrophy, Bone spicule pigmentation of the retina, ...	OMIM:610359
Homocarnosinosis	Abnormality of skin pigmentation, Abnormality of retinal pigmentation	OMIM:236130
Reticular Dystrophy Of Retinal Pigment Epithelium	Pigmentary retinopathy, Abnormality of retinal pigmentation	OMIM:179840
Optic Atrophy 3, Autosomal Dominant	Cataract, Optic disc pallor, Optic atrophy	OMIM:165300
Retinitis Pigmentosa 40	Cataract, Rod-cone dystrophy, Bone spicule pigmentation of the retina, Attenuation of retinal blo...	OMIM:613801
Bothnia Retinal Dystrophy	Retinal pigment epithelial atrophy, Increased OCT-measured foveal thickness, Rod-cone dystrophy, ...	ORPHA:85128
Spinocerebellar Ataxia, Autosomal Recessive 24	Gait ataxia, Cataract, Limb ataxia, Spastic gait	OMIM:617133
Bleeding Disorder, Platelet-Type, 9	Thrombocytopenia	OMIM:614200
Oslam Syndrome	Increased mean corpuscular volume, Abnormality of neutrophils	ORPHA:2760
Dehydrated Hereditary Stomatocytosis	Increased mean corpuscular hemoglobin concentration, Congenital hemolytic anemia, Hemolytic anemi...	ORPHA:3202
Elliptocytosis 3	Decreased mean corpuscular volume, Elliptocytosis, Chronic hemolytic anemia, Pyropoikilocytosis	OMIM:617948
Thrombocytopenia 7	Impaired arachidonic acid-induced platelet aggregation, Impaired ADP-induced platelet aggregation...	OMIM:619130
Hereditary Hyperferritinemia-Cataract Syndrome	Cataract	ORPHA:163
Cataract 35	Cataract	OMIM:609376
Cataract 36	Cataract	OMIM:613887
Cataract 29	Cataract	OMIM:115800
Nanophthalmos	Abnormality of retinal pigmentation, Abnormal choroid morphology	ORPHA:35612
Central Retinal Vein Occlusion	Abnormal anterior eye segment morphology, Macular edema, Retinal vascular tortuosity, Macular deg...	ORPHA:411527
Cataract And Congenital Ichthyosis	Cataract	OMIM:212400
Cone-Rod Dystrophy 16	Rod-cone dystrophy, Cone/cone-rod dystrophy, Macular atrophy, Bone spicule pigmentation of the re...	OMIM:614500
Diamond-Blackfan Anemia 6	Increased mean corpuscular volume, Failure to thrive, Macrocytic anemia, Persistence of hemoglobin F	OMIM:612561
Joubert Syndrome 9	Episodic tachypnea, Retinal dystrophy, Apnea, Astigmatism, Cataract	OMIM:612285
Retinitis Pigmentosa 47	Pigmentary retinopathy, Rod-cone dystrophy, Chorioretinal atrophy	OMIM:613758
Amegakaryocytic Thrombocytopenia, Congenital	Amegakaryocytic thrombocytopenia, Thrombocytopenia, Pancytopenia	OMIM:604498
Myopia, High, With Cataract And Vitreoretinal Degeneration	Lattice retinal degeneration, Peripheral vitreoretinal degeneration, Vitreous floaters, Lens subl...	OMIM:614292
Retinitis Pigmentosa 9	Rod-cone dystrophy, Macular edema, Macular atrophy, Bone spicule pigmentation of the retina, Cata...	OMIM:180104
Muscular Atrophy-Ataxia-Retinitis Pigmentosa-Diabetes Mellitus Syndrome	Abnormality of retinal pigmentation	ORPHA:2579
Retinitis Pigmentosa 84	Rod-cone dystrophy, Macular atrophy, Bone spicule pigmentation of the retina, Attenuation of reti...	OMIM:618220
Retinitis Pigmentosa 62	Rod-cone dystrophy, Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels...	OMIM:614181
Stickler Syndrome Type 2	Retinopathy, Cataract, Corneal opacity, Retinal detachment, Abnormal vitreous humor morphology	ORPHA:90654
Majeed Syndrome	Erythroid hyperplasia, Hepatosplenomegaly, Decreased mean corpuscular volume, Failure to thrive, ...	OMIM:609628
Retinitis Pigmentosa 81	Retinal pigment epithelial atrophy, Optic disc pallor, Bone spicule pigmentation of the retina, A...	OMIM:617871
Cone-Rod Dystrophy 5	Retinal pigment epithelial mottling, Macular degeneration, Cone/cone-rod dystrophy	OMIM:600977
Familial Exudative Vitreoretinopathy	Macular exudate, Vitreous hemorrhage, Tractional retinal detachment, Macular edema, Falciform ret...	ORPHA:891
Exudative Vitreoretinopathy 2, X-Linked	Exudative vitreoretinopathy, Intraretinal exudate, Retinal fold, Falciform retinal fold, Retinal ...	OMIM:305390
Dysequilibrium Syndrome	Cataract, Gait disturbance, Ataxia	ORPHA:1766
Malaria	Anemia, Retinopathy, Hyperbilirubinemia, Elevated circulating C-reactive protein concentration, T...	ORPHA:673
Exudative Vitreoretinopathy 1	Exudative vitreoretinopathy, Vitreous hemorrhage, Posterior vitreous detachment, Retinal exudate,...	OMIM:133780
Leber Congenital Amaurosis 2	Optic disc pallor, Attenuation of retinal blood vessels, Cataract, Eye poking, Fundus atrophy, Ke...	OMIM:204100
Retinitis Pigmentosa 11	Rod-cone dystrophy, Macular edema, Macular degeneration, Macular atrophy, Bone spicule pigmentati...	OMIM:600138
Retinitis Pigmentosa 87 With Choroidal Involvement	Chorioretinal atrophy, Pigmentary retinopathy, Bone spicule pigmentation of the retina, Nummular ...	OMIM:618697
Retinitis Pigmentosa 4	Rod-cone dystrophy, Retinal atrophy, Bone spicule pigmentation of the retina, Attenuation of reti...	OMIM:613731
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome	Optic atrophy, Abnormality of retinal pigmentation	ORPHA:1574
Retinitis Pigmentosa 54	Fundus atrophy, Rod-cone dystrophy, Bone spicule pigmentation of the retina, Attenuation of retin...	OMIM:613428
Congenital Dyserythropoietic Anemia Type Iii	Anemia, Poikilocytosis, Abnormal erythrocyte morphology, Anisocytosis, Increased mean corpuscular...	ORPHA:98870
Megalocornea	Mosaic corneal dystrophy, Megalocornea, Corneal arcus, Iris transillumination defect, Deep anteri...	OMIM:309300
Ataxia-Tapetoretinal Degeneration Syndrome	Rod-cone dystrophy, Pigmentary retinopathy	ORPHA:1178
Macrothrombocytopenia, Isolated, 2, Autosomal Dominant	Macrothrombocytopenia	OMIM:619840
Ceroid Lipofuscinosis, Neuronal, 3	Rod-cone dystrophy, Optic atrophy, Retinal degeneration, Macular degeneration, Cataract, Loss of ...	OMIM:204200
Vitreoretinal Degeneration, Snowflake Type	Retinal dots, Corneal guttata, Snowflake vitreoretinal degeneration, Cataract, Optically empty vi...	OMIM:193230
Retinitis Pigmentosa 95	Perifoveal ring of hyperautofluorescence, Bone spicule pigmentation of the retina, Attenuation of...	OMIM:620102
Leber Congenital Amaurosis 8	Choriocapillaris atrophy, Cataract, Eye poking, Chorioretinal atrophy, Keratoconus, Macular colob...	OMIM:613835
Retinitis Pigmentosa 76	Peripapillary atrophy, Retinal thinning, Hyperautofluorescent macular lesion, Bone spicule pigmen...	OMIM:617123
Cyanosis, Transient Neonatal	Methemoglobinemia, Anemia, Reticulocytosis	OMIM:613977
Cerebellar Hypoplasia-Tapetoretinal Degeneration Syndrome	Optic atrophy, Abnormality of retinal pigmentation	ORPHA:2246
Stargardt Disease	Retinal pigment epithelial atrophy, Abnormal foveal morphology, Retinal thinning, Abnormal choroi...	ORPHA:827
Retinitis Pigmentosa 61	Rod-cone dystrophy, Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels	OMIM:614180
Morm Syndrome	Retinal dystrophy, Cataract, Aggressive behavior, Retinal atrophy	ORPHA:75858
Progressive Bifocal Chorioretinal Atrophy	Chorioretinal dystrophy, Macular atrophy, Pigmentary retinopathy	ORPHA:75373
Neuropathy, Ataxia, And Retinitis Pigmentosa	Retinopathy, Retinal pigment epithelial mottling, Rod-cone dystrophy	OMIM:551500
Leber Congenital Amaurosis With Early-Onset Deafness	Retinal degeneration, Retinal pigment epithelial mottling, Peripapillary atrophy	OMIM:617879
Retinitis Pigmentosa 68	Retinal atrophy, Rod-cone dystrophy, Bone spicule pigmentation of the retina	OMIM:615725
Microphthalmia, Isolated 5	Retinal pigment epithelial atrophy, Optic disc drusen, Foveoschisis, Bone spicule pigmentation of...	OMIM:611040
Retinitis Pigmentosa 7	Pigmentary retinopathy, Rod-cone dystrophy, Chorioretinal atrophy, Attenuation of retinal blood v...	OMIM:608133
Retinitis Pigmentosa 13	Rod-cone dystrophy, Optic disc drusen, Asteroid hyalosis, Retinal degeneration, Bone spicule pigm...	OMIM:600059
Retinitis Pigmentosa 90	Retinal pigment epithelial atrophy, Bone spicule pigmentation of the retina, Attenuation of retin...	OMIM:619007
Methylcobalamin Deficiency Type Cble	Pancytopenia, Failure to thrive, Scoliosis, Macrocytic anemia, Increased mean corpuscular volume,...	ORPHA:2169
Bietti Crystalline Dystrophy	Retinal pigment epithelial atrophy, Choriocapillaris atrophy, Retinal thinning, Retinal pigment e...	ORPHA:41751
Pigmented Paravenous Chorioretinal Atrophy	Bone spicule pigmentation of the retina, Paravenous chorioretinal atrophy, Vitreoretinopathy	OMIM:172870
Alpha-Thalassemia	Hypochromic microcytic anemia, Reduced alpha/beta synthesis ratio	OMIM:604131
Beta-Thalassemia	Hypochromic microcytic anemia, Reduced beta/alpha synthesis ratio	OMIM:613985
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency	Increased mean corpuscular volume, Thrombocytopenia, Megaloblastic anemia, Pancytopenia	OMIM:613839
Cataract 21, Multiple Types	Cortical pulverulent cataract, Macular hypoplasia, Cerulean cataract, Microcornea, Iris coloboma,...	OMIM:610202
Progressive Cone Dystrophy	Abnormality of retinal pigmentation	ORPHA:1871
Bleeding Disorder, Platelet-Type, 16	Anemia, Impaired platelet aggregation, Thrombocytopenia, Giant platelets, Platelet anisocytosis, ...	OMIM:187800
Corneal Dystrophy, Groenouw Type I	Granular corneal dystrophy, Punctate corneal dystrophy, Cataract, Nodular corneal dystrophy	OMIM:121900
Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome	Amegakaryocytic thrombocytopenia	ORPHA:71289
Retinal Dystrophy, Juvenile Cataracts, And Short Stature Syndrome	Retinal pigment epithelial atrophy, Rod-cone dystrophy, Retinal dystrophy, Bone spicule pigmentat...	OMIM:616108
Cataract 42	Cataract, Developmental cataract	OMIM:115900
Juvenile Neuronal Ceroid Lipofuscinosis	Aspiration pneumonia, Episodic tachypnea, Retinal degeneration, Emotional lability, Apnea, Loss o...	ORPHA:79264
Beemer Lethal Malformation Syndrome	Thrombocytopenia	OMIM:209970
Joubert Syndrome 7	Neonatal breathing dysregulation, Episodic tachypnea, Retinal dystrophy, Ataxia, Central apnea, T...	OMIM:611560
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1	Retinal fold, Abnormality of skin pigmentation, Retinal dystrophy, Abnormality of retinal pigment...	OMIM:251270
Retinitis Pigmentosa 28	Rod-cone dystrophy, Bone spicule pigmentation of the retina, Optic disc pallor	OMIM:606068
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency	Pigmentary retinopathy	OMIM:609016
Achromatopsia	Retinal pigment epithelial atrophy, Abnormal macular morphology, Retinal pigment epithelial mottl...	ORPHA:49382
Ceroid Lipofuscinosis, Neuronal, 7	Retinopathy, Pigmentary retinopathy, Optic atrophy	OMIM:610951
Niemann-Pick Disease, Type B	Sea-blue histiocytosis, Anemia, Abnormal macular morphology, Increased LDL cholesterol concentrat...	OMIM:607616
Retinitis Pigmentosa 80	Macular atrophy, Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels	OMIM:617781
Retinitis Pigmentosa 88	Macular degeneration, Bone spicule pigmentation of the retina, Attenuation of retinal blood vesse...	OMIM:618826
Anemia, Sideroblastic, 3, Pyridoxine-Refractory	Anemia, Erythroid hyperplasia, Hepatosplenomegaly, Decreased mean corpuscular volume, Anisocytosi...	OMIM:616860
Blue Cone Monochromatism	Abnormality of retinal pigmentation	ORPHA:16
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome	Asplenia, Splenomegaly, HbS hemoglobin, Reticulocytosis, Persistence of hemoglobin F, Hypochromic...	ORPHA:251380
Myopia 28, Autosomal Recessive	Retinal detachment, Cataract	OMIM:619781
Retinitis Pigmentosa 17	Rod-cone dystrophy, Bone spicule pigmentation of the retina	OMIM:600852
Retinitis Pigmentosa 19	Retinal pigment epithelial atrophy, Rod-cone dystrophy, Bone spicule pigmentation of the retina, ...	OMIM:601718
Glutathione Synthetase Deficiency	Pigmentary retinopathy, Neutropenia, Hemolytic anemia	OMIM:266130
Retinitis Pigmentosa 73	Rod-cone dystrophy, Peripapillary atrophy, Macular crystals, Retinal atrophy, Bone spicule pigmen...	OMIM:616544
Retinoschisis 1, X-Linked, Juvenile	Retinal pigment epithelial atrophy, Vitreous hemorrhage, Retinal atrophy, Retinal degeneration, M...	OMIM:312700
Vitreoretinochoroidopathy	Retinal arteriolar constriction, Vitreous hemorrhage, Retinal arteriolar occlusion, Pulverulent c...	OMIM:193220
Alpha-Thalassemia	Anemia, Hemolytic anemia, Hypersplenism, Abnormal hemoglobin, Splenomegaly, Microcytic anemia	ORPHA:846
Retinitis Pigmentosa 69	Perifoveal hypoautofluorescence, Rod-cone dystrophy, Pigmentary retinopathy	OMIM:615780
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia	Hemolytic anemia, Reticulocytosis, Hepatosplenomegaly, Decreased mean corpuscular volume, Failure...	OMIM:611590
Leber Congenital Amaurosis 1	Optic disc drusen, Attenuation of retinal blood vessels, Cataract, Eye poking, Fundus atrophy, Ke...	OMIM:204000
Interstitial Pneumonitis, Desquamative, Familial	Cyanosis, Respiratory distress, Cough, Respiratory failure, Tachypnea	OMIM:263000
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension	Thrombocytopenia	OMIM:166990
Multiple Carboxylase Deficiency	Optic atrophy, Respiratory distress, Ataxia, Lethargy, Tachypnea	ORPHA:148
Leber Congenital Amaurosis 9	Optic atrophy, Retinal dots, Retinal pigment epithelial mottling, Macular atrophy, Bone spicule p...	OMIM:608553
Adult-Onset Multiple Mitochondrial Dna Deletion Syndrome Due To Dguok Deficiency	Depression, Ataxia, Cataract, Optic atrophy	ORPHA:329314
Hereditary Pulmonary Alveolar Proteinosis	Hypoxemia, Respiratory distress, Tachypnea, Crackles, Restrictive ventilatory defect, Cough, Resp...	ORPHA:264675
Eosinophilia, Familial	Anemia, Thrombocytopenia, Leukocytosis, Eosinophilia	OMIM:131400
Bleeding Disorder, Platelet-Type, 24	Impaired arachidonic acid-induced platelet aggregation, Impaired ADP-induced platelet aggregation...	OMIM:619271
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability	Posterior embryotoxon, Optic atrophy, Cataract, Iris coloboma, Corneal opacity, Chorioretinal col...	ORPHA:1473
Cone Rod Dystrophy	Abnormality of retinal pigmentation	ORPHA:1872
Hermansky-Pudlak Syndrome 9	Leukopenia, Hypopigmentation of the skin, Ocular albinism, Hypopigmentation of the fundus, Thromb...	OMIM:614171
Retinal Dystrophy And Obesity	Retinal pigment epithelial atrophy, Peripapillary atrophy, Retinal dots, Retinal dystrophy, Atten...	OMIM:616188
Usher Syndrome, Type Iv	Retinal atrophy, Retinal degeneration, Bone spicule pigmentation of the retina, Hyperautofluoresc...	OMIM:618144
Myopia 17, Autosomal Dominant	Presenile cataracts, Retinal hole	OMIM:608367
Chronic Pneumonitis Of Infancy	Cyanosis, Intercostal retractions, Hypoxemia, Reduced forced vital capacity, Respiratory distress...	ORPHA:91359
Microcornea, Rod-Cone Dystrophy, Cataract, And Posterior Staphyloma 1	Cataract, Rod-cone dystrophy, Microcornea	OMIM:619082
Retinitis Pigmentosa 6	Chorioretinal degeneration, Rod-cone dystrophy, Pigmentary retinopathy	OMIM:312612
Retinitis Pigmentosa 79	Optic disc pallor, Macular atrophy, Bone spicule pigmentation of the retina, Attenuation of retin...	OMIM:617460
Exfoliation Syndrome	Phakodonesis, Pigment deposition in the trabecular meshwork, Mydriasis, Iris hypoperfusion, Lens ...	OMIM:177650
Anemia, Hypochromic Microcytic, With Iron Overload 2	Anemia, Poikilocytosis, Decreased mean corpuscular volume, Hypochromia, Splenomegaly	OMIM:615234
Deafness, Autosomal Dominant 1, With Or Without Thrombocytopenia	Macrothrombocytopenia, Thrombocytopenia, Impaired platelet aggregation	OMIM:124900
Joubert Syndrome 30	Apnea, Retinal dystrophy, Tachypnea	OMIM:617622
Eales Disease	Iris neovascularization, Vitreous hemorrhage, Macular edema, Vitreous haze, Vitritis, Tractional ...	ORPHA:40923
Cone-Rod Dystrophy, X-Linked, 1	Retinal pigment epithelial atrophy, Retinal pigment epithelial mottling, Hypoautofluorescent macu...	OMIM:304020
Leber Congenital Amaurosis 6	Cataract, Keratoconus, Attenuation of retinal blood vessels	OMIM:613826
Thrombocytopenia 4	Thrombocytopenia, Abnormal platelet volume	OMIM:612004
Erythroleukemia, Familial, Susceptibility To	Acute myeloid leukemia, Anemia, Splenomegaly, Erythroid hyperplasia, Thrombocytopenia, Leukemia	OMIM:133180
Trichomegaly	Cataract	OMIM:190330
Congenital Stationary Night Blindness	Congenital stationary night blindness with abnormal fundus, Congenital stationary night blindness...	ORPHA:215
Microspherophakia With Hernia	Retinal detachment, Microspherophakia, Superior lens subluxation	OMIM:157150
Bleeding Disorder, Platelet-Type, 15	Platelet anisocytosis, Thrombocytopenia, Increased mean platelet volume	OMIM:615193
Autosomal Recessive Complex Spastic Paraplegia Due To Kennedy Pathway Dysfunction	Retinal pigment epithelial mottling, Hyporeflective spaces on macular OCT, Central retinal vessel...	ORPHA:506353
Atypical Rett Syndrome	Gait ataxia, Inability to walk, Episodic tachypnea, Inappropriate crying, Gait disturbance, Loss ...	ORPHA:3095
Spinocerebellar Ataxia, Autosomal Recessive 29	Retinal pigment epithelial mottling, Optic disc pallor	OMIM:619389
Holocarboxylase Synthetase Deficiency	Keratoconjunctivitis, Irritability, Respiratory distress, Ataxia, Lethargy, Tachypnea	ORPHA:79242
Bleeding Disorder, Platelet-Type, 19	Anemia, Thrombocytopenia, Macrothrombocytopenia	OMIM:616176
Anterior Segment Dysgenesis 8	Optic nerve dysplasia, Iris transillumination defect, Persistent pupillary membrane, Hypoplasia o...	OMIM:617319
Retinitis Pigmentosa 86	Retinal pigment epithelial atrophy, Bone spicule pigmentation of the retina, Attenuation of retin...	OMIM:618613
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia	Respiratory insufficiency, Optic atrophy, Respiratory distress, Ataxia, Respiratory failure, Leth...	OMIM:614299
Alpha-Methylacyl-Coa Racemase Deficiency	Rod-cone dystrophy, Ataxia, Cataract, Depression, Pigmentary retinopathy	OMIM:614307
Recurrent Respiratory Papillomatosis	Respiratory insufficiency, Respiratory distress, Recurrent pneumonia, Upper airway obstruction, D...	ORPHA:60032
Methionine Malabsorption Syndrome	Blue irides, Tachypnea	OMIM:250900
Alpha-Thalassemia-Myelodysplastic Syndrome	Neutropenia, HbH hemoglobin, Thrombocytopenia, Acute leukemia, Splenomegaly, Microcytic anemia	ORPHA:231401
Fanconi Anemia, Complementation Group G	Anemia, Multiple cafe-au-lait spots, Thrombocytopenia, Neutropenia, Leukemia	OMIM:614082
Autoimmune Interstitial Lung, Joint, And Kidney Disease	Restrictive ventilatory defect, Dyspnea, Cough, Decreased DLCO, Tachypnea	OMIM:616414
Exudative Vitreoretinopathy 4	Exudative vitreoretinopathy, Vitreous hemorrhage, Tractional retinal detachment, Posterior vitreo...	OMIM:601813
Platelet Signal Processing Defect	Thrombocytopenia, Impaired ADP-induced platelet aggregation, Impaired collagen-induced platelet a...	OMIM:173590
Ectopia Lentis Et Pupillae	Iris transillumination defect, Ectopia lentis, Cataract, Ectopia pupillae, Retinal detachment, Pe...	OMIM:225200
Staphylococcal Necrotizing Pneumonia	Pneumothorax, Pleural empyema, Hypoxemia, Respiratory distress, Tachypnea, Pleural effusion, Pneu...	ORPHA:36238
Stickler Syndrome, Type V	Retinal detachment, Cataract, Vitreoretinopathy	OMIM:614284
Oliver-Mcfarlane Syndrome	Retinal degeneration, Pigmentary retinopathy, Central heterochromia	OMIM:275400
Hypotaurinemic Retinal Degeneration And Cardiomyopathy	Photoreceptor layer loss on macular OCT, Retinal thinning, Hypotaurinemia, Retinal pigment epithe...	OMIM:145350
Cataract-Microcornea Syndrome	Microcornea, Cataract, Iris coloboma, Corneal opacity, Corneal dystrophy	ORPHA:1377
Retinopathy, Pericentral Pigmentary, Autosomal Recessive	Pigmentary retinopathy	OMIM:268060
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction	Asthma, Wheezing, Choreoathetosis, Hypoxemia, Respiratory distress, Ataxia, Oxygen desaturation o...	OMIM:610978
Retinal Cone Dystrophy 4	Retinal pigment epithelial mottling, Cone/cone-rod dystrophy	OMIM:610478
Choroideremia	Abnormality of retinal pigmentation	ORPHA:180
Retinitis Pigmentosa 2	Rod-cone dystrophy, Cataract, Chorioretinal degeneration, Fundus atrophy, Bull's eye maculopathy,...	OMIM:312600
Retinitis Pigmentosa 1	Rod-cone dystrophy, Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels...	OMIM:180100
Anemia, Sideroblastic, 5	Anemia, Reduced hematocrit, Hypochromic microcytic anemia, Thrombocytopenia, Neutropenia	OMIM:619523
Split-Hand With Congenital Nystagmus, Fundal Changes, And Cataracts	Cataract, Retinopathy	OMIM:183800
Morning Glory Disc Anomaly	Retinal detachment, Cataract, Optic disc coloboma, Abnormality of retinal pigmentation	ORPHA:35737
Myopathy, Mitochondrial Progressive, With Congenital Cataract And Developmental Delay	Cataract, Developmental cataract	OMIM:613076
Diamond-Blackfan Anemia 7	Increased mean corpuscular volume, Neutropenia, Scoliosis, Macrocytic anemia	OMIM:612562
Senior-Loken Syndrome	Retinal dystrophy, Ataxia, Cataract, Abnormality of retinal pigmentation	ORPHA:3156
Platelet Glycoprotein Iv Deficiency	Thrombocytopenia, Giant platelets	OMIM:608404
Norrie Disease	Retinal fold, Aggressive behavior, Optic atrophy, Leukocoria, Hypoplasia of the iris, Buphthalmos...	OMIM:310600
Preeclampsia/Eclampsia 1	Thrombocytopenia	OMIM:189800
Retinitis Pigmentosa 41	Rod-cone dystrophy, Macular degeneration, Bone spicule pigmentation of the retina, Attenuation of...	OMIM:612095
Mitochondrial Complex Iii Deficiency, Nuclear Type 8	Optic disc pallor, Gait disturbance, Ataxia, Loss of ambulation, Respiratory failure, Lethargy, T...	OMIM:615838
Joubert Syndrome 3	Neonatal breathing dysregulation, Episodic tachypnea, Retinal dystrophy, Ataxia, Central apnea, P...	OMIM:608629
Hemophagocytic Lymphohistiocytosis, Familial, 4	Anemia, Neutropenia, Increased circulating ferritin concentration, Hemophagocytosis, Thrombocytop...	OMIM:603552
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development	Cataract, Iris coloboma, Chorioretinal coloboma	OMIM:120433
Impaired Intellectual Development, Truncal Obesity, Retinal Dystrophy, And Micropenis Syndrome	Retinal dystrophy, Cataract	OMIM:610156
Pseudo-Von Willebrand Disease	Intermittent thrombocytopenia	OMIM:177820
Developmental Delay, Impaired Growth, Dysmorphic Facies, And Axonal Neuropathy	Pigmentary retinopathy	OMIM:619090
Anemia, Congenital Dyserythropoietic, Type Iv	Anemia, Reduced hematocrit, Hemolytic anemia, Circulating nucleated red blood cells, Weight loss,...	OMIM:613673
Usher Syndrome Type 3	Iris hypopigmentation, Ataxia, Astigmatism, Cataract, Depression, Anxiety	ORPHA:231183
Respiratory Distress Syndrome In Premature Infants	Neonatal respiratory distress, Dyspnea, Respiratory distress, Tachypnea	OMIM:267450
Immunodeficiency 96	Increased mean corpuscular volume, Increased proportion of gamma-delta T cells	OMIM:619774
Hemangioma-Thrombocytopenia Syndrome	Microangiopathic hemolytic anemia, Thrombocytopenia, Hyperkalemia	OMIM:141000
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy	Corneal scarring, Retinal dystrophy, Macular atrophy, Buphthalmos, Cataract, Iris coloboma, Chori...	OMIM:212550
Vitreoretinopathy, Neovascular Inflammatory	Large hyperpigmented retinal spots, Posterior retinal neovascularization, Vitreous hemorrhage, Pe...	OMIM:193235
Oculocutaneous Albinism Type 4	Hypopigmentation of the skin, Ocular albinism, Albinism, Iris hypopigmentation, Optic nerve misro...	ORPHA:79435
Aniridia 2	Optic atrophy, Lens subluxation, Cataract, Iris coloboma, Aniridia	OMIM:617141
Shwachman-Diamond Syndrome	Acute myeloid leukemia, Chronic neutropenia, Leukopenia, Anemia, Neutropenia, Impaired neutrophil...	ORPHA:811
Congenital Toxoplasmosis	Thrombocytopenia, Anemia, Abnormality of retinal pigmentation	ORPHA:858
Peroxisome Biogenesis Disorder 9B	Cataract, Rod-cone dystrophy, Ataxia	OMIM:614879
Cataract 9, Multiple Types	Developmental cataract, Microcornea, Cataract, Iris coloboma, Progressive cataract	OMIM:604219
Blackfan-Diamond Anemia	Acute myeloid leukemia, Leukopenia, Reticulocytopenia, Small for gestational age, Pure red cell a...	ORPHA:124
Maternally-Inherited Diabetes And Deafness	Retinopathy, Abnormal chorioretinal morphology, Ataxia, Cataract, Macular dystrophy	ORPHA:225
Methylmalonic Aciduria And Homocystinuria, Cbld Type	Increased mean corpuscular volume, Megaloblastic anemia	OMIM:277410
Acute Myelomonocytic Leukemia	Leukocytosis, Anemia, Thrombocytopenia, Eosinophilia	ORPHA:517
Upper Limb Defect-Eye And Ear Abnormalities Syndrome	Cataract, Chorioretinal coloboma	ORPHA:2489
Dk Phocomelia Syndrome	Thrombocytopenia	OMIM:223340
Joubert Syndrome With Oculorenal Defect	Retinal dystrophy, Ataxia, Apnea, Iris coloboma, Chorioretinal coloboma, Tachypnea	ORPHA:2318
Blindness-Scoliosis-Arachnodactyly Syndrome	Abnormality of retinal pigmentation, Lens subluxation, Cataract, Retinal detachment, Microphakia	ORPHA:171844
Bone Marrow Failure Syndrome 2	Leukopenia, Anemia, Thrombocytopenia	OMIM:615715
Thrombocytopenia With Beta-Thalassemia, X-Linked	Splenomegaly, Hemolytic anemia, Reticulocytosis, Increased RBC distribution width, Thrombocytopen...	OMIM:314050
Cln3 Disease	Aggressive behavior, Shuffling gait, Optic atrophy, Ataxia, Cataract, Loss of ambulation, Depress...	ORPHA:228346
16Q24.3 Microdeletion Syndrome	Increased mean corpuscular volume, Thrombocytopenia, Scoliosis, Kyphosis	ORPHA:261250
Retinitis Pigmentosa 12	Rod-cone dystrophy, Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels...	OMIM:600105
Bilateral Striopallidodentate Calcinosis	Thrombocytopenia	ORPHA:1980
Retinitis Pigmentosa 56	Retinal pigment epithelial atrophy, Rod-cone dystrophy, Bone spicule pigmentation of the retina, ...	OMIM:613581
Surfactant Metabolism Dysfunction, Pulmonary, 2	Cyanosis, Respiratory insufficiency, Pulmonary arterial hypertension, Bronchiectasis, Interstitia...	OMIM:610913
Retinitis Pigmentosa 92	Pigmentary retinopathy	OMIM:619614
Neutropenia, Severe Congenital, 5, Autosomal Recessive	Leukopenia, Anemia, Extramedullary hematopoiesis, Thrombocytopenia, Neutropenia, Splenomegaly	OMIM:615285
Oculopharyngodistal Myopathy 3	Pigmentary retinopathy, Elevated circulating creatine kinase concentration	OMIM:619473
Refractory Anemia	Neutropenia, Normocytic anemia, Erythroid hypoplasia, Macrocytic anemia, Thrombocytopenia, Anemia...	ORPHA:98826
Cone-Rod Dystrophy 3	Cone/cone-rod dystrophy, Attenuation of retinal blood vessels, Optic disc pallor, Bull's eye macu...	OMIM:604116
Microcephaly-Cardiomyopathy Syndrome	Abnormality of retinal pigmentation	ORPHA:2515
Autosomal Dominant Keratitis	Macular hypoplasia, Limbal stem cell deficiency, Abnormal corneal limbus morphology, Corneal neov...	ORPHA:2334
Acquired Idiopathic Sideroblastic Anemia	Acute myeloid leukemia, Neutropenia, Megaloblastic erythroid hyperplasia, Normocytic anemia, Eryt...	ORPHA:75564
Eem Syndrome	Retinopathy, Macular dystrophy, Abnormality of retinal pigmentation	ORPHA:1897
Congenital Primary Aphakia	Retinal dysplasia, Sclerocornea, Aplasia/Hypoplasia affecting the anterior segment of the eye, Co...	ORPHA:83461
Peroxisomal Acyl-Coa Oxidase Deficiency	Rod-cone dystrophy, Pigmentary retinopathy, Optic atrophy	OMIM:264470
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss	Impaired ADP-induced platelet aggregation, Impaired epinephrine-induced platelet aggregation, Leu...	OMIM:155100
Isolated Aniridia	Cataract, Peters anomaly, Aplasia/Hypoplasia of the macula, Aniridia	ORPHA:250923
Retinitis Pigmentosa 83	Rod-cone dystrophy, Asteroid hyalosis, Vitreous floaters, Bone spicule pigmentation of the retina...	OMIM:618173
Primary Hypomagnesemia With Hypercalciuria And Nephrocalcinosis With Severe Ocular Involvement	Macular coloboma, Chorioretinal coloboma, Abnormality of retinal pigmentation	ORPHA:2196
Roch-Leri Mesosomatous Lipomatosis	Thrombocytopenia	ORPHA:529
Retinitis Pigmentosa 46	Rod-cone dystrophy, Pigmentary retinopathy, Attenuation of retinal blood vessels, Optic disc pallor	OMIM:612572
Dwarfism With Stiff Joints And Ocular Abnormalities	Retinal detachment, Cataract	OMIM:127200
Retinitis Pigmentosa 77	Rod-cone dystrophy, Retinal atrophy, Bone spicule pigmentation of the retina, Attenuation of reti...	OMIM:617304
Giant platelet syndrome with thrombocytopenia	Thrombocytopenia, Giant platelets	OMIM:137560
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease	Anemia, Hepatosplenomegaly, Increased circulating ferritin concentration, Hemophagocytosis, Throm...	OMIM:613101
Flynn-Aird Syndrome	Cataract, Rod-cone dystrophy, Ataxia	OMIM:136300
Adult-Onset Autosomal Recessive Cerebellar Ataxia	Tortuosity of conjunctival vessels, Truncal ataxia, Macular degeneration, Progressive gait ataxia...	ORPHA:284289
Ophthalmoplegia-Intellectual Disability-Lingua Scrotalis Syndrome	Abnormality of retinal pigmentation	ORPHA:2743
Primary Pulmonary Hypoplasia	Cyanosis, Pneumothorax, Abnormal breath sound, Asthma, Hypoxemia, Apnea, Restrictive ventilatory ...	ORPHA:2257
Retinitis Pigmentosa 10	Rod-cone dystrophy, Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels...	OMIM:180105
Spinocerebellar Ataxia 7	Macular degeneration, Pigmentary retinopathy, Optic atrophy	OMIM:164500
Sjögren-Larsson Syndrome	Macular degeneration, Retinopathy, Generalized hyperpigmentation, Abnormality of retinal pigmenta...	ORPHA:816
Leber Congenital Amaurosis	Cataract, Keratoconus, Abnormal optic disc morphology, Abnormality of retinal pigmentation	ORPHA:65
Infant Acute Respiratory Distress Syndrome	Cyanosis, Nasal flaring, Hypoxemia, Respiratory failure, Pneumonia, Tachypnea	ORPHA:70587
Surfactant Metabolism Dysfunction, Pulmonary, 4	Reduced forced vital capacity, Restrictive ventilatory defect, Reduced forced expiratory volume i...	OMIM:300770
Cofs Syndrome	Optic atrophy, Abnormality of retinal pigmentation	ORPHA:1466
Bornholm Eye Disease	Abnormality of retinal pigmentation, Optic nerve hypoplasia	OMIM:300843
Jalili Syndrome	Cone/cone-rod dystrophy, Retinal pigment epithelial mottling, Macular atrophy, Bone spicule pigme...	OMIM:217080
Leber Congenital Amaurosis 16	Cataract, Optic disc pallor	OMIM:614186
Pyruvate Dehydrogenase Deficiency	Choreoathetosis, Gait disturbance, Ataxia, Dyspnea, Lethargy, Tachypnea	ORPHA:765
Retinitis Pigmentosa 43	Rod-cone dystrophy, Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels...	OMIM:613810
Aniridia-Intellectual Disability Syndrome	Cataract, Optic nerve hypoplasia, Aniridia, Ectopia lentis	ORPHA:1068
Joubert Syndrome 23	Apnea, Tachypnea	OMIM:616490
Retinitis Pigmentosa And Erythrocytic Microcytosis	Anemia, Elliptocytosis, Poikilocytosis, Decreased mean corpuscular volume, Anisocytosis	OMIM:616959
Gray Platelet Syndrome	Abnormality of thrombocytes, Thrombocytopenia, Splenomegaly	ORPHA:721
Congenital Muscular Dystrophy With Intellectual Disability	Pigmentary retinopathy, Elevated circulating creatine kinase concentration	ORPHA:370968
Dyskeratosis Congenita, Autosomal Dominant 1	Leukopenia, Anemia, Lymphopenia, Increased mean corpuscular volume, Thrombocytopenia, Aplastic an...	OMIM:127550
Fanconi Anemia, Complementation Group V	Anemia, Thrombocytopenia, Neutropenia, Elevated circulating alpha-fetoprotein concentration	OMIM:617243
Cataract 11, Multiple Types	Cataract, Developmental cataract	OMIM:610623
Avian Influenza	Conjunctivitis, Pneumothorax, Productive cough, Hypoxemia, Respiratory distress, Pleural effusion...	ORPHA:454836
Usher Syndrome Type 1	Iris hypopigmentation, Ataxia, Cataract, Depression, Anxiety	ORPHA:231169
Oculocutaneous Albinism Type 2	Hypopigmentation of the skin, Iris transillumination defect, White eyelashes, Iris hypopigmentati...	ORPHA:79432
Sea-Blue Histiocyte Disease	Sea-blue histiocytosis, Thrombocytopenia, Splenomegaly	OMIM:269600
Night Blindness-Skeletal Anomalies-Dysmorphism Syndrome	Heterochromia iridis, Abnormality of retinal pigmentation, Abnormal retinal vascular morphology	ORPHA:1390
Severe Early-Childhood-Onset Retinal Dystrophy	Retinal pigment epithelial atrophy, Optic disc drusen, Abnormal macular morphology, Retinal degen...	ORPHA:364055
Polycythemia Vera	Increased red blood cell mass, Increased hematocrit, Thrombocytosis, Leukocytosis, Thrombocytopen...	OMIM:263300
Gyrate Atrophy Of Choroid And Retina	Abnormal macular morphology, Chorioretinal hyperpigmentation, Cataract, Chorioretinal atrophy, Ch...	ORPHA:414
Acute Lung Injury	Hypoxemia, Respiratory distress, Dyspnea, Respiratory failure, Pneumonia, Tachypnea	ORPHA:178320
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome	Cataract, Rod-cone dystrophy, Retinal coloboma	OMIM:601794
Gaucher Disease, Atypical, Due To Saposin C Deficiency	Anemia, Hypersplenism, Hypocholesterolemia, Thrombocytopenia, Splenomegaly	OMIM:610539
Fetal Parvovirus Syndrome	Anemia, Thrombocytopenia	ORPHA:295
Retinitis Pigmentosa 58	Rod-cone dystrophy, Macular degeneration, Bone spicule pigmentation of the retina, Attenuation of...	OMIM:613617
Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract	Rod-cone dystrophy, Optic atrophy, Ataxia, Dysmetria, Cataract, Subcapsular cataract	OMIM:612674
Wiskott-Aldrich Syndrome 2	Thrombocytopenia, Decreased proportion of CD8-positive T cells	OMIM:614493
Congenital Disorder Of Glycosylation, Type Iik	Thrombocytopenia, Elevated circulating creatine kinase concentration	OMIM:614727
Macrothrombocytopenia, Isolated, 1, Autosomal Dominant	Macrothrombocytopenia, Impaired platelet aggregation	OMIM:613112
Acute Interstitial Pneumonia	Cyanosis, Bronchiectasis, Hypoxemia, Pleural effusion, Crackles, Dyspnea, Respiratory failure, De...	ORPHA:79126
X-Linked Cerebral-Cerebellar-Coloboma Syndrome	Apneic episodes in infancy, Chorioretinal coloboma, Episodic tachypnea	ORPHA:163961
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome	Cataract, Rod-cone dystrophy, Retinal coloboma	ORPHA:363741
Biotinidase Deficiency	Conjunctivitis, Optic atrophy, Ataxia, Apnea, Lethargy, Tachypnea	OMIM:253260
Cone-Rod Dystrophy 8	Retinal arteriolar constriction, Cone/cone-rod dystrophy, Macular degeneration, Abnormality of re...	OMIM:605549
Pontocerebellar Hypoplasia, Type 15	Chronic neutropenia, Thrombocytopenia, Anemia	OMIM:619302
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development	Retinal fold, Aggressive behavior, Optic atrophy, Microcornea, Astigmatism, Cataract, Corneal opa...	OMIM:152950
Phenylketonuria	Aggressive behavior, Cataract, Blue irides, Depression, Anxiety, Irritability, Self-mutilation	OMIM:261600
Wolfram Syndrome, Mitochondrial Form	Megaloblastic anemia, Optic atrophy, Sideroblastic anemia, Thrombocytopenia, Neutropenia	OMIM:598500
Kearns-Sayre Syndrome	Abnormality of retinal pigmentation	ORPHA:480
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts	Anemia, Dysplastic erythropoesis, Reticulocytopenia, Anisopoikilocytosis, Hepatosplenomegaly, Dec...	ORPHA:300298
Ataxia-Pancytopenia Syndrome	Acute myelomonocytic leukemia, Anemia, Pancytopenia, Thrombocytopenia, Neutropenia, Hypoplastic a...	OMIM:159550
Refractory Anemia With Excess Blasts	Acute myeloid leukemia, Abnormal mean corpuscular volume, Leukocytosis, Thrombocytopenia, Anemia ...	ORPHA:86839
Coloboma, Ocular, Autosomal Recessive	Lens subluxation, Cataract, Iris coloboma, Optic disc coloboma, Retinal coloboma	OMIM:216820
Cone-Rod Dystrophy 20	Optic disc pallor, Bone spicule pigmentation of the retina, Cone/cone-rod dystrophy	OMIM:615973
Atypical Hemolytic Uremic Syndrome	Microangiopathic hemolytic anemia, Thrombocytopenia	ORPHA:2134
Epiphyseal Dysplasia, Multiple, With Myopia And Conductive Deafness	Cataract, Retinal thinning, Asteroid hyalosis	OMIM:132450
Diabetes And Deafness, Maternally Inherited	Retinal degeneration, Pigmentary retinopathy	OMIM:520000
Retinitis Pigmentosa 49	Rod-cone dystrophy, Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels...	OMIM:613756
Autosomal Recessive Stickler Syndrome	Retinal detachment, Astigmatism, Cataract, Vitreoretinopathy	ORPHA:250984
Achondrogenesis Type 2	Cardiorespiratory arrest, Lens subluxation, Cataract, Retinal detachment, Abnormal vitreous humor...	ORPHA:93296
Autoinflammation With Infantile Enterocolitis	Anemia, Reduced natural killer cell count, Pancytopenia, Increased circulating ferritin concentra...	OMIM:616050
Retinitis Pigmentosa 25	Rod-cone dystrophy, Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels...	OMIM:602772
Cernunnos-Xlf Deficiency	Anemia, T lymphocytopenia, B lymphocytopenia, Lymphopenia, Thrombocytopenia	ORPHA:169079
Wt Limb-Blood Syndrome	Irregular hyperpigmentation, Pancytopenia, Thrombocytopenia, Leukemia, Hypoplastic anemia	OMIM:194350
Systemic Lupus Erythematosus 17	Leukopenia, Lymphopenia, Autoimmune thrombocytopenia, Optic neuritis, Thrombocytopenia	OMIM:301080
Ring Chromosome 14 Syndrome	Pigmentary retinopathy	OMIM:616606
3-Methylglutaconic Aciduria Type 4	Iris hypopigmentation, Thrombocytopenia	ORPHA:67048
Bleeding Disorder, Platelet-Type, 20	Thrombocytopenia	OMIM:616913
Von Willebrand Disease, Type 2	Thrombocytopenia	OMIM:613554
Forsythe-Wakeling Syndrome	Thrombocytopenia	OMIM:613606
Uveal Melanoma	Vitreous hemorrhage, Iris melanoma, Zonular cataract, Mydriasis, Abnormal fundus morphology, Cili...	ORPHA:39044
Congenital Rubella Syndrome	Thrombocytopenia, Splenomegaly, Anemia, Abnormality of retinal pigmentation	ORPHA:290
Citrullinemia Type I	Lethargy, Ataxia, Tachypnea	ORPHA:247525
Zika Virus Disease	Retinal pigment epithelial mottling, Abnormal optic disc morphology, Macular atrophy, Optic disc ...	ORPHA:448237
Retinitis Pigmentosa	Abnormality of retinal pigmentation, Optic atrophy, Abnormal retinal vascular morphology	ORPHA:791
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease	Acute myeloid leukemia, Anemia, Reduced natural killer cell count, Neutropenia, Hyperbilirubinemi...	ORPHA:158057
Aicardi-Goutieres Syndrome 3	Thrombocytopenia, Hepatosplenomegaly	OMIM:610329
Aplasia Cutis-Myopia Syndrome	Abnormality of retinal pigmentation	ORPHA:1117
Juvenile Paget Disease	Hyperuricemia, Melanocytic nevus, Optic atrophy, Abnormality of retinal pigmentation	ORPHA:2801
Diprosopus	Abnormality of retinal pigmentation	ORPHA:1681
Pontocerebellar Hypoplasia, Type 14	Chronic neutropenia, Thrombocytopenia	OMIM:619301
Intellectual Developmental Disorder And Retinitis Pigmentosa	Peripapillary atrophy, Macular degeneration, Bone spicule pigmentation of the retina, Attenuation...	OMIM:618195
Amoebic Keratitis	Abnormal anterior chamber morphology, Abnormal corneal epithelium morphology, Corneal stromal ede...	ORPHA:67043
Surfactant Metabolism Dysfunction, Pulmonary, 3	Cyanosis, Respiratory failure, Exertional dyspnea, Hypoxemia, Respiratory distress, Apnea, Nonspe...	OMIM:610921
Waardenburg-Shah Syndrome	Abnormal macular morphology, Premature graying of hair, White eyelashes, White eyebrow, Abnormali...	ORPHA:897
Transcobalamin Deficiency	Thrombocytopenia, Neutropenia, Pancytopenia, Lymphopenia	ORPHA:859
Beta-Thalassemia Intermedia	Increased HbA2 hemoglobin, Erythroid hyperplasia, Hepatosplenomegaly, Persistence of hemoglobin F...	ORPHA:231222
Microphthalmia, Isolated, With Coloboma 3	Iris coloboma, Cataract	OMIM:610092
Oculocutaneous Albinism Type 1B	Hypopigmentation of the skin, Melanocytic nevus, Albinism, Iris hypopigmentation, Abnormality of ...	ORPHA:79434
Retinitis Pigmentosa 3	Perifoveal hypoautofluorescence, Rod-cone dystrophy, Bone spicule pigmentation of the retina	OMIM:300029
Intermediate Uveitis	Macular edema, Vitreous haze, Posterior synechiae of the anterior chamber, Vitreous floaters, Epi...	ORPHA:279914
Lymphoproliferative Syndrome 1	Leukopenia, Anemia, Pancytopenia, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Incre...	OMIM:613011
Narp Syndrome	Retinal arteriolar tortuosity, Rod-cone dystrophy, Retinal pigment epithelial mottling, Optic dis...	ORPHA:644
Retinitis Pigmentosa 45	Macular degeneration, Rod-cone dystrophy, Bone spicule pigmentation of the retina	OMIM:613767
Retinitis Pigmentosa 51	Macular degeneration, Rod-cone dystrophy, Bone spicule pigmentation of the retina, Attenuation of...	OMIM:613464
Bernard-Soulier Syndrome	Thrombocytopenia, Macrothrombocytopenia, Impaired ristocetin-induced platelet aggregation, Giant ...	OMIM:231200
Sea-Blue Histiocytosis	Sea-blue histiocytosis, Retinopathy, Hypopigmentation of the skin, Hyperpigmentation of the skin,...	ORPHA:158029
Surfactant Metabolism Dysfunction, Pulmonary, 1	Cyanosis, Pulmonary arterial hypertension, Apnea, Dyspnea, Respiratory failure, Neonatal respirat...	OMIM:265120
Thiamine-Responsive Megaloblastic Anemia Syndrome	Optic atrophy, Cone/cone-rod dystrophy, Retinal degeneration, Sideroblastic anemia, Thiamine-resp...	OMIM:249270
Chronic Myeloid Leukemia	Abnormal granulocyte morphology, Abnormal basophil morphology, Thrombocytosis, Leukocytosis, Myel...	ORPHA:521
Nephrotic Syndrome, Type 7	Thrombocytopenia, Hemolytic anemia	OMIM:615008
Idiopathic Neonatal Atrial Flutter	Respiratory distress, Tachypnea	ORPHA:45452
Dominant Beta-Thalassemia	Hypersplenism, Reduced hemoglobin A, Decreased mean corpuscular hemoglobin concentration, Hepatos...	ORPHA:231226
Pellagra-Like Syndrome	Cataract, Ataxia	OMIM:260650
Leigh Syndrome With Leukodystrophy	Anemia, Pigmentary retinopathy, Optic atrophy	ORPHA:255241
Joubert Syndrome 1	Neonatal breathing dysregulation, Aggressive behavior, Optic disc pallor, Episodic tachypnea, Ret...	OMIM:213300
Retinitis Punctata Albescens	Retinal atrophy, Retinal pigment epithelial mottling, Yellow/white lesions of the retina, Macular...	ORPHA:52427
Thrombocytopenia 5	Anemia, Thrombocytopenia, Neutropenia	OMIM:616216
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0	Anemia, Optic atrophy, Hyperammonemia, Thrombocytopenia, Neutropenia	ORPHA:289916
Moyamoya Disease With Early-Onset Achalasia	Thrombocytopenia, Abnormal platelet aggregation	ORPHA:401945
Osteopetrosis, Autosomal Recessive 4	Anemia, Optic atrophy, Reticulocytosis, Thrombocytopenia, Optic disc pallor, Splenomegaly	OMIM:611490
Beta-Thalassemia Major	Hypersplenism, Reduced hemoglobin A, Anisopoikilocytosis, Decreased mean corpuscular hemoglobin c...	ORPHA:231214
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 2	Pigmentary retinopathy, Elevated circulating creatine kinase concentration	OMIM:613156
Chromosome Xp11.3 Deletion Syndrome	Rod-cone dystrophy, Optic atrophy, Asthma, Attenuation of retinal blood vessels, Posterior subcap...	OMIM:300578
Folate Malabsorption, Hereditary	Leukopenia, Thrombocytopenia, Neutropenia, Folate-responsive megaloblastic anemia	OMIM:229050
Posterior Column Ataxia With Retinitis Pigmentosa	Rod-cone dystrophy, Optic atrophy, Bone spicule pigmentation of the retina, Attenuation of retina...	OMIM:609033
Sitosterolemia 1	Reduced haptoglobin level, Stomatocytosis, Anemia, Giant platelets, Reticulocytosis, Impaired pla...	OMIM:210250
Enhanced S-Cone Syndrome	Macular edema, Vitreoretinopathy, Retinoschisis, Cataract, Pigmentary retinopathy	OMIM:268100
Bardet-Biedl Syndrome 9	Rod-cone dystrophy, Retinal degeneration, Bone spicule pigmentation of the retina, Attenuation of...	OMIM:615986
Stickler Syndrome, Type Ii	Retinal detachment, Cataract, Abnormal vitreous humor morphology	OMIM:604841
Oculoauricular Syndrome	Rod-cone dystrophy, Morning glory anomaly, Posterior embryotoxon, Cone/cone-rod dystrophy, Poster...	OMIM:612109
Vitamin B12-Unresponsive Methylmalonic Acidemia	Leukopenia, Anemia, Optic atrophy, Hyperammonemia, Macrocytic anemia, Thrombocytopenia	ORPHA:27
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities	Elliptocytosis, Impaired platelet aggregation, Poikilocytosis, Anisocytosis, Macrocytic anemia, T...	OMIM:300835
Thiamine-Responsive Megaloblastic Anemia Syndrome	Retinal dystrophy, Thrombocytopenia, Megaloblastic anemia, Optic atrophy	ORPHA:49827
Immunodeficiency 32B	Anemia, Monocytopenia, Neutrophilia, Eosinophilia, Impaired oxidative burst, Thrombocytopenia, Sp...	OMIM:226990
Drug-Induced Lupus Erythematosus	Anemia, Elevated circulating creatine kinase concentration, Increased blood urea nitrogen, Elevat...	ORPHA:231111
Aicardi-Goutieres Syndrome 6	Hemolytic anemia, Thrombocytopenia, Splenomegaly	OMIM:615010
Woolly Hair	Abnormal pupil morphology, Cataract, Abnormal retinal morphology	ORPHA:170
Aceruloplasminemia	Aceruloplasminemia, Retinal degeneration, Decreased circulating ceruloplasmin concentration, Decr...	ORPHA:48818
Thrombocytopenia, Anemia, And Myelofibrosis	Anemia, Thrombocytopenia, Anisopoikilocytosis, Splenomegaly	OMIM:617441
Idiopathic Aplastic Anemia	Retinal hemorrhage, Anemia, Reticulocytopenia, Pancytopenia, Thrombocytopenia, Neutropenia	ORPHA:88
Beta-Thalassemia	Anemia, Thrombocytopenia, Abnormal hemoglobin, Splenomegaly, Microcytic anemia	ORPHA:848
Thrombocytopenia With Congenital Dyserythropoietic Anemia	Poikilocytosis, Anisocytosis, Hypochromic anemia, Macrothrombocytopenia, Anemia of inadequate pro...	ORPHA:67044
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-	Anemia, Optic atrophy, Hyperammonemia, Thrombocytopenia, Neutropenia, Splenomegaly	ORPHA:79312
Jalili Syndrome	Optic atrophy, Abnormality of retinal pigmentation	ORPHA:1873
Lymphoproliferative Syndrome, X-Linked, 1	Lymphocytosis, Pancytopenia, Thrombocytopenia, Hemophagocytosis, Elevated circulating C-reactive ...	OMIM:308240
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1	Pappenheimer bodies, Sideroblastic anemia, Erythroid hyperplasia, Increased circulating ferritin ...	OMIM:600462
Fanconi Anemia, Complementation Group T	Acute myeloid leukemia, Anemia, Thrombocytopenia, Pancytopenia	OMIM:616435
Transaldolase Deficiency	Anemia, Hepatosplenomegaly, Increased serum bile acid concentration, Abnormal circulating glutami...	ORPHA:101028
Osteopetrosis, Autosomal Recessive 8	Anemia, Thrombocytopenia, Splenomegaly, Optic atrophy	OMIM:615085
Thrombotic Thrombocytopenic Purpura	Thrombocytopenia, Microangiopathic hemolytic anemia, Decreased serum creatinine, Reticulocytosis	ORPHA:54057
Hermansky-Pudlak Syndrome 5	Iris transillumination defect, Ocular albinism, Albinism, Impaired ADP-induced platelet aggregati...	OMIM:614074
Brachytelephalangic Chondrodysplasia Punctata	Asthma, Optic disc hypoplasia, Optic nerve hypoplasia, Cataract, Central apnea, Neonatal respirat...	ORPHA:79345
Hypermetabolism Due To Uncoupled Mitochondrial Oxidative Phosphorylation 2	Tachypnea	OMIM:620085
Mitochondrial Complex Iv Deficiency, Nuclear Type 15	Hyperalaninemia, Hyperglycinemia, Pigmentary retinopathy	OMIM:619059
Stickler Syndrome Type 1	Retinal detachment, Cataract, Abnormal vitreous humor morphology	ORPHA:90653
Spinal Muscular Atrophy, Distal, Autosomal Recessive, 1	Respiratory failure, Ventilator dependence with inability to wean, Inspiratory stridor, Tachypnea	OMIM:604320
Hb Bart'S Hydrops Fetalis	Anemia, Abnormal hemoglobin, Splenomegaly	ORPHA:163596
Bardet-Biedl Syndrome 3	Rod-cone dystrophy, Pigmentary retinopathy	OMIM:600151
Joubert Syndrome 28	Optic disc pallor, Pigmentary retinopathy	OMIM:617121
Laurence-Moon Syndrome	Pigmentary retinopathy, Chorioretinal atrophy	OMIM:245800
Retinitis Pigmentosa 72	Rod-cone dystrophy, Peripapillary atrophy, Bone spicule pigmentation of the retina, Attenuation o...	OMIM:616469
Retinal Dystrophy And Iris Coloboma With Or Without Congenital Cataract	Posterior synechiae of the anterior chamber, Iris coloboma, Retinal atrophy, Developmental cataract	OMIM:616722
Cone-Rod Dystrophy 10	Macular degeneration, Rod-cone dystrophy, Bone spicule pigmentation of the retina, Attenuation of...	OMIM:610283
Mitochondrial Dna Depletion Syndrome 20 (Mngie Type)	Dysmetria, Cataract, Macular degeneration	OMIM:619780
Retinitis Pigmentosa 14	Retinal arteriolar constriction, Rod-cone dystrophy, Bone spicule pigmentation of the retina, Opt...	OMIM:600132
Alpha-Mannosidosis, Adult Form	Ataxia, Cataract, Pneumonia, Corneal opacity, Depression, Anxiety, Optic disc pallor	ORPHA:309288
Methylmalonic Aciduria And Homocystinuria, Cblj Type	Pulmonary arterial hypertension, Lethargy, Tachypnea	OMIM:614857
Microcephaly-Thin Corpus Callosum-Intellectual Disability Syndrome	Abnormality of retinal pigmentation	ORPHA:397951
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2	Anemia, Thrombocytopenia, Congenital thrombocytopenia, Neutropenia	OMIM:616738
Retinal Dystrophy With Or Without Macular Staphyloma	Retinal dystrophy, Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina,...	OMIM:617547
Sengers Syndrome	Thrombocytopenia	OMIM:212350
Holocarboxylase Synthetase Deficiency	Lethargy, Irritability, Hyperventilation, Tachypnea	OMIM:253270
Acute Zonal Occult Outer Retinopathy	Retinal pigment epithelial atrophy, Macular drusen, Rod-cone dystrophy, Abnormal choroid morpholo...	ORPHA:284454
Retinitis Pigmentosa 60	Retinal pigment epithelial atrophy, Rod-cone dystrophy, Bone spicule pigmentation of the retina, ...	OMIM:613983
Idiopathic Panuveitis	Vitreous haze, Posterior synechiae of the anterior chamber, Vitreous floaters, Choroidal neovascu...	ORPHA:280921
Joubert Syndrome 5	Neonatal breathing dysregulation, Aggressive behavior, Rod-cone dystrophy, Episodic tachypnea, At...	OMIM:610188
Leishmaniasis	Leukopenia, Anemia, Abnormal macrophage morphology, Pancytopenia, Thrombocytopenia, Splenomegaly,...	ORPHA:507
Thrombocytopenia With Elevated Serum Iga And Renal Disease	Thrombocytopenia	OMIM:314000
Multisystemic Smooth Muscle Dysfunction Syndrome	Pulmonary arterial hypertension, Retinal infarction, Mydriasis, Tachypnea	OMIM:613834
Propionic Acidemia	Apnea, Lethargy, Tachypnea	OMIM:606054
Ramon Syndrome	Abnormality of retinal pigmentation	ORPHA:3019
Primary Familial Polycythemia	Abnormal hemoglobin, Polycythemia	ORPHA:90042
Histiocytoid Cardiomyopathy	Cyanosis, Megalocornea, Optic atrophy, Cough, Corneal opacity, Congenital aphakia, Lethargy, Tach...	ORPHA:137675
Mitochondrial Complex I Deficiency, Nuclear Type 11	Pigmentary retinopathy	OMIM:618234
Persistent Hyperplastic Primary Vitreous	Retinal fold, Tractional retinal detachment, Leukocoria, Macular hypoplasia, Hyaloid vascular rem...	ORPHA:91495
Joubert Syndrome	Episodic tachypnea, Gait disturbance, Ataxia, Apnea, Iris coloboma, Abnormal pattern of respiration	ORPHA:475
Autosomal Recessive Spastic Paraplegia Type 15	Retinal flecks, Yellow/white lesions of the retina, Pigmentary retinopathy	ORPHA:100996
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase	Methemoglobinemia, Polycythemia	OMIM:250800
Immunodeficiency 46	Anemia, Neutropenia, Intermittent thrombocytopenia	OMIM:616740
Cochleosaccular Degeneration-Cataract Syndrome	Cataract, Ataxia	ORPHA:3233
Slc35A1-Cdg	Thrombocytopenia, Neutropenia, Abnormal platelet granules, Giant platelets	ORPHA:238459
Canavan Disease	Optic atrophy, Abnormality of retinal pigmentation	ORPHA:141
Wolfram Syndrome 1	Megaloblastic anemia, Optic atrophy, Sideroblastic anemia, Thrombocytopenia, Pigmentary retinopathy	OMIM:222300
Hydrops, Lactic Acidosis, And Sideroblastic Anemia	Thrombocytopenia, Sideroblastic anemia	OMIM:617021
Hereditary Methemoglobinemia	Small for gestational age, Methemoglobinemia	ORPHA:621
Hemophagocytic Lymphohistiocytosis, Familial, 1	Increased total bilirubin, Leukopenia, Anemia, Increased VLDL cholesterol concentration, Increase...	OMIM:267700
Griscelli Syndrome	Leukopenia, Abnormal circulating lipid concentration, Premature graying of hair, Iris hypopigment...	ORPHA:381
Diffuse Neonatal Hemangiomatosis	Anemia, Thrombocytopenia, Hypercalcemia	ORPHA:2123
Bleeding Disorder, Platelet-Type, 21	Thrombocytopenia, Impaired ADP-induced platelet aggregation, Increased mean platelet volume, Impa...	OMIM:617443
Neonatal Acute Respiratory Distress Due To Sp-B Deficiency	Pulmonary arterial hypertension, Interstitial pneumonitis, Spontaneous neonatal pneumothorax, Neo...	ORPHA:217563
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome	Aplasia/Hypoplasia of the iris, Cataract, Corneal opacity, Persistent pupillary membrane	ORPHA:1067
Complete Atrioventricular Septal Defect	Cyanosis, Elevated pulmonary artery pressure, Intercostal retractions, Crackles, Recurrent pneumo...	ORPHA:1329
Nance-Horan Syndrome	Retinal detachment, Cataract, Microcornea	ORPHA:627
Platelet Disorder, Familial, With Associated Myeloid Malignancy	Acute myeloid leukemia, Abnormal alpha granule content, Impaired platelet aggregation, Abnormal d...	OMIM:601399
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11	Retinal detachment, Cataract, Optic nerve hypoplasia	OMIM:615181
Tricho-Retino-Dento-Digital Syndrome	Abnormality of retinal pigmentation	ORPHA:1264
Long Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency	Chorioretinal atrophy, Retinopathy, Abnormal chorioretinal morphology, Abnormality of retinal pig...	ORPHA:5
Maternal Uniparental Disomy Of Chromosome 4	Decreased LDL cholesterol concentration, Rod-cone dystrophy, Optic atrophy, Elevated circulating ...	ORPHA:96180
Choroidal Atrophy-Alopecia Syndrome	Abnormality of retinal pigmentation	ORPHA:1433
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16	HbH hemoglobin, Failure to thrive, Short neck, Microcytic anemia	ORPHA:98791
Serotonin Syndrome	Irritability, Tachypnea, Mydriasis, Anxiety	ORPHA:43116
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive	Retinal fold, Leukocoria, Posterior synechiae of the anterior chamber, Microcornea, Buphthalmos, ...	OMIM:221900
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis	Hemolytic anemia, Elliptocytosis, Reticulocytosis, Hepatosplenomegaly, Poikilocytosis, Anisocytos...	OMIM:618278
Amed Syndrome, Digenic	Acute myeloid leukemia, Leukopenia, Anemia, Hyperpigmentation of the skin, Thrombocytopenia	OMIM:619151
Aniridia 1	Corneal erosion, Hypoplasia of the iris, Retinal vascular tortuosity, Corneal neovascularization,...	OMIM:106210
Cone-Rod Dystrophy 2	Retinal pigment epithelial atrophy, Cone/cone-rod dystrophy, Bone spicule pigmentation of the ret...	OMIM:120970
Blepharoptosis-Myopia-Ectopia Lentis Syndrome	Abnormality of retinal pigmentation	ORPHA:1259
Phosphoglycerate Dehydrogenase Deficiency	Thrombocytopenia, Megaloblastic anemia	OMIM:601815
Immunodeficiency 97 With Autoinflammation	Reduced natural killer cell count, Monocytopenia, Decreased proportion of CD4+CD25+ regulatory T ...	OMIM:619802
Chédiak-Higashi Syndrome	Iris hypopigmentation, Large clumps of pigment irregularly distributed along hair shaft, Spotty h...	ORPHA:167
Mitochondrial Complex Ii Deficiency, Nuclear Type 1	Pigmentary retinopathy, Optic atrophy	OMIM:252011
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of	Respiratory arrest, Lethargy, Tachypnea	OMIM:201475
Macrophage Activation Syndrome	Abnormal natural killer cell count, Anemia, Neutropenia, Increased circulating ferritin concentra...	ORPHA:158061
Mitochondrial Complex Iv Deficiency, Nuclear Type 13	Tachypnea	OMIM:616501
Refsum Disease, Classic	Retinal degeneration, Cataract, Rod-cone dystrophy, Ataxia	OMIM:266500
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome	Abnormality of retinal pigmentation	ORPHA:3085
Neonatal Adrenoleukodystrophy	Optic atrophy, Abnormality of retinal pigmentation	ORPHA:44
Microcephaly-Cleft Palate-Abnormal Retinal Pigmentation Syndrome	Abnormality of retinal pigmentation	ORPHA:2521
Retinitis Pigmentosa 66	Rod-cone dystrophy, Bone spicule pigmentation of the retina, Optic disc pallor	OMIM:615233
Intermediate Osteopetrosis	Anemia, Optic atrophy from cranial nerve compression, Hepatosplenomegaly, Thrombocytopenia, Hypoc...	ORPHA:210110
Jeune Syndrome	Abnormality of retinal pigmentation	ORPHA:474
Arthrogryposis, Distal, Type 5	Retinal fold, Abnormality of retinal pigmentation	OMIM:108145
Anterior Segment Dysgenesis 7	Ocular anterior segment dysgenesis, Anterior synechiae of the anterior chamber, Microcornea, Buph...	OMIM:269400
Thyrocerebrorenal Syndrome	Thrombocytopenia	ORPHA:3327
Cataract 47	Cataract, Microcornea	OMIM:612018
Non-Involuting Congenital Hemangioma	Thrombocytopenia	ORPHA:141179
Retinitis Pigmentosa 75	Rod-cone dystrophy, Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels	OMIM:617023
Autoinflammatory Syndrome, Familial, Behcet-Like 1	Thrombocytopenia, Hemolytic anemia, Lymphopenia	OMIM:616744
Cerebellar Ataxia-Hypogonadism Syndrome	Optic atrophy, Abnormality of retinal pigmentation	ORPHA:1173
Birt-Hogg-Dubé Syndrome	Abnormality of retinal pigmentation	ORPHA:122
Retinitis Pigmentosa 37	Cystoid macular degeneration, Rod-cone dystrophy, Pigmentary retinopathy	OMIM:611131
Aicardi-Goutieres Syndrome 4	Thrombocytopenia, Splenomegaly, Pancytopenia, Hepatosplenomegaly	OMIM:610333
Preeclampsia	Elevated circulating creatinine concentration, Thrombocytopenia	ORPHA:275555
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4	Anemia, Microangiopathic hemolytic anemia, Increased blood urea nitrogen, Elevated circulating cr...	OMIM:612924
Joubert Syndrome 2	Neonatal breathing dysregulation, Episodic tachypnea, Retinal dystrophy, Ataxia, Chorioretinal co...	OMIM:608091
Chromosome 16Q12 Duplication Syndrome	Anisocoria, Cataract, Temporal optic disc pallor, Retinal pigment epithelial mottling	OMIM:619649
Adult-Onset Chronic Progressive External Ophthalmoplegia With Mitochondrial Myopathy	Pigmentary retinopathy	ORPHA:329336
Congenital Bile Acid Synthesis Defect Type 4	Ataxia, Cataract, Pigmentary retinopathy, Depression	ORPHA:79095
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type	Pulmonary arterial hypertension, Tachypnea	OMIM:613320
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome	Gait ataxia, Rod-cone dystrophy, Gait disturbance, Bone spicule pigmentation of the retina, Ataxi...	ORPHA:88628
Chediak-Higashi Syndrome	Leukopenia, Anemia, Hypopigmentation of the skin, Giant melanosomes in melanocytes, Ocular albini...	OMIM:214500
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3	Anemia, Microangiopathic hemolytic anemia, Increased blood urea nitrogen, Elevated circulating cr...	OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2	Anemia, Microangiopathic hemolytic anemia, Increased blood urea nitrogen, Elevated circulating cr...	OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6	Anemia, Microangiopathic hemolytic anemia, Increased blood urea nitrogen, Elevated circulating cr...	OMIM:612926
Relapsing Fever	Increased total bilirubin, Leukopenia, Anemia, Neutrophilia, Elevated circulating C-reactive prot...	ORPHA:91547
Stt3B-Cdg	Thrombocytopenia, Optic atrophy	ORPHA:370924
Neurocutaneous Melanocytosis	Melanocytic nevus, Abnormality of retinal pigmentation, Generalized hyperpigmentation, Chorioreti...	ORPHA:2481
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome	Leukopenia, Anemia, Hyperuricemia, Pancytopenia, Increased blood urea nitrogen, Hyponatremia, Thr...	OMIM:613845
Succinyl-Coa:3-Oxoacid-Coa Transferase Deficiency	Tachypnea	OMIM:245050
Car T Cell Therapy-Associated Cytokine Release Syndrome	Pleural effusion, Respiratory failure, Hypoxemia, Tachypnea	ORPHA:542323
Shwachman-Diamond Syndrome 1	Acute myeloid leukemia, Anemia, Small for gestational age, Pancytopenia, Persistence of hemoglobi...	OMIM:260400
Vogt-Koyanagi-Harada Disease	Retinal detachment, Cataract	ORPHA:3437
Bone Marrow Failure Syndrome 4	Leukopenia, Anemia, Thrombocytopenia	OMIM:618116
Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract	Cataract, Aniridia, Microcornea	OMIM:106230
Fructose-1,6-Bisphosphatase Deficiency	Episodic tachypnea, Intermittent hyperventilation, Apneic episodes in infancy, Respiratory distre...	ORPHA:348
Very Long Chain Acyl-Coa Dehydrogenase Deficiency	Episodic tachypnea, Respiratory distress, Pneumonia, Lethargy, Tachypnea	ORPHA:26793
Mitochondrial Complex Iii Deficiency, Nuclear Type 5	Episodic tachypnea	OMIM:615160
Rapidly Involuting Congenital Hemangioma	Thrombocytopenia	ORPHA:141184
Cataract 16, Multiple Types	Retinal dystrophy, Lenticonus, Posterior polar cataract, Developmental cataract	OMIM:613763
Congenital Disorder Of Glycosylation, Type Ix	Thrombocytopenia, Optic atrophy	OMIM:615597
Thrombocytopenia, X-Linked, With Or Without Dyserythropoietic Anemia	Congenital thrombocytopenia, Anemia of inadequate production, Acanthocytosis, Poikilocytosis	OMIM:300367
Microphthalmia With Brain And Digit Anomalies	Retinal dystrophy, Microcornea, Iris coloboma, Cataract, Chorioretinal coloboma, Sclerocornea	ORPHA:139471
Mitochondrial Trifunctional Protein Deficiency 1	Elevated circulating acylcarnitine concentration, Hyperammonemia, Pigmentary retinopathy, Elevate...	OMIM:609015
Gaucher Disease, Type Iii	Thrombocytopenia, Splenomegaly, Pancytopenia	OMIM:231000
Platelet Disorder, Undefined	Thrombocytopenia, Impaired platelet aggregation	OMIM:173420
Pulmonary Fibrosis-Hepatic Hyperplasia-Bone Marrow Hypoplasia Syndrome	Thrombocytopenia, Increased circulating ferritin concentration, Hepatosplenomegaly	ORPHA:210136
Babesiosis	Leukopenia, Thrombocytopenia, Splenomegaly, Hemolytic anemia	ORPHA:108
Isovaleric Acidemia	Leukopenia, Thrombocytopenia, Pancytopenia	OMIM:243500
Stuve-Wiedemann Syndrome 2	Thrombocytopenia	OMIM:619751
Cholera	Aspiration pneumonia, Irritability, Lethargy, Hyperventilation, Tachypnea	ORPHA:173
Noonan Syndrome 12	Thrombocytopenia, Lymphopenia	OMIM:618624
Stormorken Syndrome	Asplenia, Anemia, Howell-Jolly bodies, Elevated circulating creatine kinase concentration, Thromb...	OMIM:185070
Cardiocranial Syndrome, Pfeiffer Type	Episodic tachypnea	ORPHA:2872
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome	Spastic gait, Chorioretinal atrophy, Progressive cerebellar ataxia, Lethargy, Chorioretinal hypop...	ORPHA:415
Proteasome-Associated Autoinflammatory Syndrome 2	Increased CD4:CD8 ratio, B lymphocytopenia, Elevated circulating C-reactive protein concentration...	OMIM:618048
Mitochondrial Complex Iii Deficiency, Nuclear Type 10	Thrombocytopenia, Papilledema, Normochromic anemia, Elevated circulating creatine kinase concentr...	OMIM:618775
Deafness-Lymphedema-Leukemia Syndrome	Abnormal neutrophil count, Leukocytosis, Myeloproliferative disorder, Abnormal optic nerve morpho...	ORPHA:3226
Congenital Disorder Of Glycosylation, Type Iif	Thrombocytopenia, Neutropenia, Decreased platelet glycoprotein Ib, Macrothrombocytopenia	OMIM:603585
Castleman Disease	Decreased mean corpuscular volume, Weight loss, Thrombocytopenia, Anemia	ORPHA:160
Pulmonary Alveolar Microlithiasis	Cyanosis, Respiratory insufficiency, Pneumothorax, Exertional dyspnea, Bronchiectasis, Hypoxemia,...	ORPHA:60025
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency	Increased C-peptide level, Increased circulating free fatty acid level, Decreased plasma carnitin...	ORPHA:71212
Bardet-Biedl Syndrome 6	Rod-cone dystrophy, Pigmentary retinopathy	OMIM:605231
Rhabdoid Tumor	Thrombocytopenia, Hypercalcemia, Anemia	ORPHA:69077
Hemophagocytic Lymphohistiocytosis, Familial, 2	Increased total bilirubin, Leukopenia, Anemia, Pancytopenia, Hepatosplenomegaly, Increased circul...	OMIM:603553
Beta-Ketothiolase Deficiency	Apathy, Cough, Ataxia, Tachypnea	ORPHA:134
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5	Anemia, Microangiopathic hemolytic anemia, Increased blood urea nitrogen, Elevated circulating cr...	OMIM:612925
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy	Recurrent aspiration pneumonia, Retinal dystrophy, Abnormal optic disc morphology, Apnea, Subreti...	ORPHA:397715
Thrombocytopenia, Paris-Trousseau Type	Thrombocytopenia	OMIM:188025
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations	Macular edema, Apathy, Retinal cotton wool spot, Retinal neovascularization, Pneumonia, Depressio...	ORPHA:247691
Bleeding Disorder, Platelet-Type, 17	Impaired epinephrine-induced platelet aggregation, Macrothrombocytopenia, Increased RBC distribut...	OMIM:187900
Ethylene Glycol Poisoning	Cyanosis, Ataxia, Euphoria, Abnormal pattern of respiration, Episodic respiratory distress, Tachy...	ORPHA:31826
Mevalonic Aciduria	Anemia, Attenuation of retinal blood vessels, Hepatosplenomegaly, Elevated circulating creatine k...	OMIM:610377
Thyrocerebroretinal Syndrome	Thrombocytopenia	OMIM:274240
Tetanus	Respiratory distress, Tachypnea	ORPHA:3299
Primary Myelofibrosis	Anemia, Pancytopenia, Hepatosplenomegaly, Poikilocytosis, Thrombocytosis, Leukocytosis, Extramedu...	ORPHA:824
Anterior Segment Dysgenesis 2	Posterior synechiae of the anterior chamber, Aniridia, Microcornea, Cataract, Peters anomaly, Cor...	OMIM:610256
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant	Stomatocytosis, Splenomegaly, Impaired collagen-related peptide-induced platelet aggregation, Hem...	OMIM:153670
Leigh Syndrome	Pigmentary retinopathy, Optic atrophy	OMIM:256000
Isolated Agammaglobulinemia	Anemia, Thrombocytopenia, Abnormal lymphocyte morphology, Abnormality of neutrophils	ORPHA:229717
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6	Retinal dysplasia, Pigmentary retinopathy, Optic atrophy, Elevated circulating creatine kinase co...	OMIM:613154
Congenitally Uncorrected Transposition Of The Great Arteries	Cyanosis, Hypoxemia, Tachypnea	ORPHA:860
Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction	Rod-cone dystrophy, Optic atrophy, Bone spicule pigmentation of the retina, Cataract, Optic disc ...	OMIM:268315
Cohen Syndrome	Leukopenia, Optic atrophy, Bone spicule pigmentation of the retina, Chorioretinal dystrophy, Neut...	OMIM:216550
Imerslund-Gräsbeck Syndrome	Megaloblastic anemia, Anisopoikilocytosis, Abnormal hemoglobin concentration, Reticulocytosis, Pa...	ORPHA:35858
Vici Syndrome	Abnormal macular morphology, Hypopigmentation of the skin, Optic atrophy, Abnormality of retinal ...	ORPHA:1493
Desmoid Tumor	Abnormality of retinal pigmentation	ORPHA:873
Gaucher Disease, Type I	Anemia, Hypersplenism, Macular atrophy, Pancytopenia, Hyperpigmentation of the skin, Thrombocytop...	OMIM:230800
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome	B lymphocytopenia, Abnormal CD4:CD8 ratio, Neutropenia, Intermittent thrombocytopenia, Splenomegaly	OMIM:150550
3-Hydroxy-3-Methylglutaric Aciduria	Apathy, Ataxia, Apnea, Lethargy, Tachypnea	ORPHA:20
Autoimmune Lymphoproliferative Syndrome, Type Iia	Increased B cell count, Coombs-positive hemolytic anemia, Neutropenia in presence of anti-neutrop...	OMIM:603909
Charcot-Marie-Tooth Disease Type 4B2	Respiratory insufficiency, Developmental glaucoma, Tip-toe gait, Optic atrophy, Inability to walk...	ORPHA:99956
Omenn Syndrome	Anemia, Hypoplasia of the thymus, B lymphocytopenia, Severe B lymphocytopenia, Hypoproteinemia, E...	OMIM:603554
Immunodeficiency 91 And Hyperinflammation	Neutrophilia, Hepatosplenomegaly, Hemophagocytosis, Elevated circulating C-reactive protein conce...	OMIM:619644
Neurodevelopmental Disorder With Seizures And Brain Abnormalities	Retinal pigment epithelial mottling	OMIM:619517
Specific Granule Deficiency 2	Thrombocytopenia, Neutropenia, Absent neutrophil specific granules, Anemia	OMIM:617475
Ghosal Hematodiaphyseal Dysplasia	Leukopenia, Thrombocytopenia, Refractory anemia	OMIM:231095
Congenital Tricuspid Valve Dysplasia	Cyanosis, Hypoxemia, Respiratory failure, Respiratory failure requiring assisted ventilation, Tac...	ORPHA:555874
Cone-Rod Dystrophy 6	Cone/cone-rod dystrophy, Macular atrophy, Bone spicule pigmentation of the retina, Attenuation of...	OMIM:601777
Cataract 10, Multiple Types	Posterior Y-sutural cataract, Nuclear cataract, Zonular cataract, Developmental cataract	OMIM:600881
Congenital Disorder Of Glycosylation, Type Iil	Optic atrophy, Pancytopenia, Elevated circulating creatine kinase concentration, Thrombocytopenia...	OMIM:614576
Bardet-Biedl Syndrome 17	Rod-cone dystrophy, Cone/cone-rod dystrophy, Retinal degeneration, Macular atrophy, Bone spicule ...	OMIM:615994
Myh9-Related Disease	Congenital thrombocytopenia, Neutrophil inclusion bodies, Increased mean platelet volume, Giant p...	ORPHA:182050
Dyskeratosis Congenita, Autosomal Recessive 2	Reticulated skin pigmentation, Thrombocytopenia, Pancytopenia	OMIM:613987
Classic Pantothenate Kinase-Associated Neurodegeneration	Rod-cone dystrophy, Pigmentary retinopathy, Optic disc pallor	ORPHA:216866
Severe Oculo-Renal-Cerebellar Syndrome	Abnormality of retinal pigmentation, Hypopigmented skin patches, Optic atrophy, Abnormal retinal ...	ORPHA:2715
Ataxia With Vitamin E Deficiency	Abnormality of retinal pigmentation	ORPHA:96
Osteopetrosis, Autosomal Recessive 2	Anemia, Optic atrophy, Pancytopenia, Hepatosplenomegaly, Extramedullary hematopoiesis, Thrombocyt...	OMIM:259710
Mucolipidosis Type Iv	Retinopathy, Abnormality of retinal pigmentation	ORPHA:578
Reese Retinal Dysplasia	Retinal dysplasia, Remnants of the hyaloid vascular system	OMIM:266400
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency	Leukopenia, Hyperglycinemia, Methylmalonic acidemia, Hyperammonemia, Thrombocytopenia, Neutropenia	OMIM:251000
Moyamoya Disease 6 With Or Without Achalasia	Thrombocytopenia	OMIM:615750
Methylmalonate Semialdehyde Dehydrogenase Deficiency	Retinal pigment epithelial mottling, Methylmalonic acidemia	OMIM:614105
Gray Platelet Syndrome	Abnormal number of alpha granules, Impaired collagen-induced platelet aggregation, Thrombocytopen...	OMIM:139090
Systemic Lupus Erythematosus	Leukopenia, Thrombocytopenia, Hemolytic anemia	OMIM:152700
Abetalipoproteinemia	Anemia, Decreased LDL cholesterol concentration, Rod-cone dystrophy, Hyperbilirubinemia, Abnormal...	ORPHA:14
Mulibrey Nanism	Pigmentary retinopathy	OMIM:253250
Autosomal Recessive Chorioretinopathy-Microcephaly Syndrome	Optic atrophy, Abnormality of retinal pigmentation	ORPHA:2518
Pelger-Huet Anomaly	Hyposegmentation of neutrophil nuclei, Abnormality of neutrophils, Giant platelets, Thrombocytope...	OMIM:169400
Refsum Disease	Retinopathy, Splenomegaly, Abnormality of retinal pigmentation	ORPHA:773
Quebec Platelet Disorder	Thrombocytopenia, Impaired epinephrine-induced platelet aggregation	OMIM:601709
Congenital Enterovirus Infection	Leukopenia, Anemia, Abnormal macrophage morphology, Hyperammonemia, Leukocytosis, Thrombocytopeni...	ORPHA:292
Proximal Myotonic Myopathy	Cataract	ORPHA:606
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type	Retinal pigment epithelial mottling, Retinopathy	OMIM:219900
Cleft Palate, Proliferative Retinopathy, And Developmental Delay	Retinal neovascularization, Sleep apnea	OMIM:619074
Coronary Arterial Fistula	Pulmonary arterial hypertension, Orthopnea, Exertional dyspnea, Tachypnea	ORPHA:2041
Methylmalonic Aciduria, Cblb Type	Anemia, Hyperglycinemia, Methylmalonic acidemia, Pancytopenia, Hyperammonemia, Thrombocytopenia, ...	OMIM:251110
Retinitis Pigmentosa, Deafness, Mental Retardation, And Hypogonadism	Rod-cone dystrophy, Pigmentary retinopathy	OMIM:268020
Aicardi-Goutieres Syndrome 5	Thrombocytopenia	OMIM:612952
Aggressive Systemic Mastocytosis	Anemia, Hypersplenism, Pancytopenia, Hepatosplenomegaly, Increased proportion of CD25+ mast cells...	ORPHA:98850
Arima Syndrome	Optic atrophy, Retinal dystrophy, Ataxia, Dyspnea, Chorioretinal coloboma, Tachypnea	OMIM:243910
Usher Syndrome	Abnormality of retinal pigmentation, Ataxia, Astigmatism, Cataract, Depression, Anxiety	ORPHA:886
Congenital Disorder Of Glycosylation, Type Ih	Elevated circulating creatinine concentration, Thrombocytopenia, Anemia, Hypoalbuminemia	OMIM:608104
Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin	Anterior concavity of thoracic vertebrae, Persistence of hemoglobin F	OMIM:617101
Hepatoportal Sclerosis	Leukopenia, Anemia, Hypersplenism, Hyperbilirubinemia, Thrombocytopenia, Splenomegaly, Hypoalbumi...	ORPHA:64743
Immunodeficiency, Common Variable, 12, With Autoimmunity	Autoimmune hemolytic anemia, Thrombocytopenia	OMIM:616576
Methylmalonic Aciduria And Homocystinuria, Cblc Type	Megaloblastic anemia, Cystathioninemia, Methylmalonic acidemia, Hyperhomocystinemia, Hypomethioni...	OMIM:277400
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1	Microangiopathic hemolytic anemia, Reticulocytosis, Increased blood urea nitrogen, Schistocytosis...	OMIM:235400
Hermansky-Pudlak Syndrome 2	Reduced natural killer cell count, Decreased CD4:CD8 ratio, Enlarged platelet dense granules, Gen...	OMIM:608233
Acyl-Coa Dehydrogenase 9 Deficiency	Elevated circulating acylcarnitine concentration, Decreased plasma carnitine, Elevated creatine k...	ORPHA:99901
Atrial Septal Defect, Ostium Primum Type	Cyanosis, Pulmonary arterial hypertension, Exertional dyspnea, Abnormal respiratory system physio...	ORPHA:99106
Double Outlet Right Ventricle	Cyanosis, Tachypnea	ORPHA:3426
Lysosomal Acid Lipase Deficiency	Leukopenia, Anemia, Hypersplenism, Hepatosplenomegaly, Increased LDL cholesterol concentration, D...	OMIM:278000
Methylmalonic Acidemia With Homocystinuria, Type Cblc	Megaloblastic anemia, Methylmalonic acidemia, Optic atrophy, Retinal degeneration, Hyperhomocysti...	ORPHA:79282
Alg8-Cdg	Anemia, Retinopathy, Optic atrophy, Hyponatremia, Thrombocytopenia	ORPHA:79325
X-Linked Agammaglobulinemia	Anemia, Hypopigmented skin patches, Thrombocytopenia, Hypocalcemia, Neutropenia	ORPHA:47
Hemophagocytic Syndrome Associated With An Infection	Abnormal natural killer cell count, Abnormal T cell subset distribution, Anemia, Neutropenia, Pan...	ORPHA:158048
Retinitis Pigmentosa 74	Rod-cone dystrophy, Pigmentary retinopathy, Optic disc pallor	OMIM:616562
Corpus Callosum Agenesis-Neuronopathy Syndrome	Abnormality of retinal pigmentation	ORPHA:1496
Peroxisome Biogenesis Disorder 2A (Zellweger)	Optic nerve dysplasia, Brushfield spots, Hypoplasia of the thymus, Elevated circulating long chai...	OMIM:214110
Osteopetrosis, Autosomal Recessive 1	Anemia, Optic atrophy, Pancytopenia, Thrombocytopenia, Hypocalcemia, Splenomegaly	OMIM:259700
Isolated Succinate-Coq Reductase Deficiency	Pigmentary retinopathy	ORPHA:3208
Cog4-Cdg	Hepatosplenomegaly, Thrombocytopenia, Hypercholesterolemia	ORPHA:263501
Gamma-Heavy Chain Disease	Anemia, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Thrombocytopenia, Splenomegaly,...	ORPHA:100026
Methylmalonic Aciduria, Cbla Type	Anemia, Hyperglycinemia, Methylmalonic acidemia, Pancytopenia, Hyperammonemia, Thrombocytopenia, ...	OMIM:251100
Thrombotic Thrombocytopenic Purpura, Hereditary	Microangiopathic hemolytic anemia, Reticulocytosis, Increased blood urea nitrogen, Schistocytosis...	OMIM:274150
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome	Retinal thinning, Cone/cone-rod dystrophy, Retinal atrophy, Macular atrophy, Abnormality of retin...	ORPHA:85167
Neuromuscular Oculoauditory Syndrome	Retinal pigment epithelial mottling, Chorioretinal lacunae, Elevated circulating creatine kinase ...	OMIM:618733
Dengue Fever	Leukopenia, Thrombocytopenia, Hypoproteinemia	ORPHA:99828
Acquired Purpura Fulminans	Thrombocytopenia, Elevated circulating C-reactive protein concentration	ORPHA:49566
Pseudo-Torch Syndrome 3	Anemia, Congenital thrombocytopenia, Increased circulating ferritin concentration, Leukocytosis	OMIM:618886
Tufted Angioma	Anemia, Thrombocytopenia	ORPHA:1063
Aregenerative Anemia	Reticulocytopenia, Abnormal proportion of CD8-positive T cells, Erythroid hypoplasia, Pancytopeni...	ORPHA:101096
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures	Thrombocytopenia, Rod-cone dystrophy, Optic atrophy	OMIM:617710
Neonatal Lupus Erythematosus	Anemia, Neutropenia, Hemolytic anemia, Pancytopenia, Thrombocytopenia, Aplastic anemia, Splenomegaly	ORPHA:398124
Immune Thrombocytopenia	Thrombocytopenia	ORPHA:3002
Mitochondrial Myopathy-Cerebellar Ataxia-Pigmentary Retinopathy Syndrome	Optic disc pallor, Pigmentary retinopathy, Mildly elevated creatine kinase	ORPHA:502423
Familial Hemophagocytic Lymphohistiocytosis	Anemia, Neutropenia, Increased circulating ferritin concentration, Hemophagocytosis, Thrombocytop...	ORPHA:540
Night Blindness, Congenital Stationary, Type 1B	Congenital stationary night blindness, Bone spicule pigmentation of the retina	OMIM:257270
Dyskeratosis Congenita, Autosomal Dominant 2	Leukopenia, Premature graying of hair, Pancytopenia, White forelock, Reticulated skin pigmentatio...	OMIM:613989
Thrombocytopenia 3	Thrombocytopenia, Decreased mean platelet volume	OMIM:273900
Braddock-Carey Syndrome 2	Thrombocytopenia	OMIM:619981
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly	Retinal pigment epithelial mottling	OMIM:617102
Myopathy, Mitochondrial, And Ataxia	Pigmentary retinopathy, Elevated circulating creatine kinase concentration	OMIM:617675
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked	Anemia, Coombs-positive hemolytic anemia, Autoimmune thrombocytopenia, Eosinophilia, Thrombocytop...	OMIM:304790
Oculo-Palato-Cerebral Syndrome	Leukocoria, Asthma, Remnants of the hyaloid vascular system, Cataract, Retinal detachment	ORPHA:2714
Fetal Gaucher Disease	Abnormality of the spleen, Thrombocytopenia, Splenomegaly, Pancytopenia	ORPHA:85212
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia	Mottled pigmentation of photoexposed areas, Pigmentary retinopathy	OMIM:560000
Immunodeficiency 10	Autoimmune hemolytic anemia, Thrombocytopenia	OMIM:612783
Overlap Myositis	Leukopenia, Abnormal circulating lipid concentration, Thrombocytopenia, Elevated circulating crea...	ORPHA:206572
Combined Oxidative Phosphorylation Deficiency 55	Anemia, Hypophosphatemia, Mildly elevated creatine kinase, Elevated circulating creatine kinase c...	OMIM:619743
Pierson Syndrome	Retinal hemorrhage, Microcoria, Rieger anomaly, Hypoplasia of the ciliary body, Macular hypoplasi...	OMIM:609049
Agammaglobulinemia 9, Autosomal Recessive	Thrombocytopenia, Absent circulating B cells	OMIM:619693
Multiple Sulfatase Deficiency	Splenomegaly, Optic atrophy, Abnormality of retinal pigmentation	ORPHA:585
Cocaine Intoxication	Pneumothorax, Mydriasis, Wheezing, Respiratory distress, Cough, Hyperventilation, Tachypnea	ORPHA:90068
Leber Congenital Amaurosis 15	Peripapillary atrophy, Dull foveal reflex, Retinal degeneration, Attenuation of retinal blood ves...	OMIM:613843
Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To	Lethargy, Tachypnea	OMIM:615751
Felty Syndrome	Anemia, Irregular hyperpigmentation, Generalized hyperpigmentation, Thrombocytopenia, Neutropenia...	ORPHA:47612
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Leukopenia, Anemia, Optic atrophy, Abnormality of retinal pigmentation, Hepatosplenomegaly, Throm...	ORPHA:505248
Tularemia	Anemia, Thrombocytopenia, Leukocytosis	ORPHA:3392
Sting-Associated Vasculopathy, Infantile-Onset	Tachypnea	OMIM:615934
Pyruvate Carboxylase Deficiency	Tip-toe gait, Apathy, Ataxia, Abnormal pattern of respiration, Tachypnea	ORPHA:3008
Immunodeficiency 98 With Autoinflammation, X-Linked	B lymphocytopenia, Autoimmune hemolytic anemia, Hemophagocytosis, Thrombocytopenia, Neutropenia, ...	OMIM:301078
Methylmalonic Aciduria And Homocystinuria, Cblf Type	Anemia, Megaloblastic anemia, Cystathioninemia, Methylmalonic acidemia, Hyperhomocystinemia, Panc...	OMIM:277380
Micro Syndrome	Retinal coloboma, Optic atrophy, Abnormality of retinal pigmentation	ORPHA:2510
Hoyeraal-Hreidarsson Syndrome	Anemia, Premature graying of hair, Generalized hypopigmentation of hair, Generalized hyperpigment...	ORPHA:3322
Pantothenate Kinase-Associated Neurodegeneration	Rod-cone dystrophy, Optic atrophy, Retinal degeneration, Retinal flecks, Abetalipoproteinemia, Bu...	ORPHA:157850
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked	Leukopenia, Thrombocytopenia, Optic nerve hypoplasia, Elevated circulating creatine kinase concen...	OMIM:301056
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 1	Amegakaryocytic thrombocytopenia, Congenital thrombocytopenia, Aplastic anemia	OMIM:605432
Mucopolysaccharidosis-Plus Syndrome	Leukopenia, Anemia, Optic atrophy, Chorioretinal hypopigmentation, Thrombocytopenia, Neutropenia,...	OMIM:617303
Methemoglobinemia And Ambiguous Genitalia	Methemoglobinemia	OMIM:250790
Dyskeratosis Congenita, Autosomal Dominant 3	Leukopenia, Premature graying of hair, Exudative retinopathy, Pancytopenia, Reticulated skin pigm...	OMIM:613990
Microphthalmia, Syndromic 5	Retinal dystrophy, Cataract, Optic nerve hypoplasia, Microcornea	OMIM:610125
Diffuse Alveolar Hemorrhage	Elevated circulating creatinine concentration, Thrombocytopenia, Anemia, Leukocytosis	ORPHA:90060
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked	Thrombocytopenia, Increased mean platelet volume	OMIM:300048
Bacterial Toxic-Shock Syndrome	Pneumonia, Sinusitis, Respiratory distress, Tachypnea	ORPHA:36234
Xeroderma Pigmentosum, Complementation Group B	Ataxia, Cataract, Pigmentary retinopathy, Optic atrophy	OMIM:610651
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency	Abnormal natural killer cell count, Abnormal B cell count, Hepatosplenomegaly, Lymphopenia, Autoi...	ORPHA:331206
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin	Overweight, Persistence of hemoglobin F	OMIM:619769
Alstrom Syndrome	Hyperuricemia, Cone/cone-rod dystrophy, Decreased HDL cholesterol concentration, Hypertriglycerid...	OMIM:203800
Maternal Uniparental Disomy Of Chromosome 6	Thrombocytopenia, Rod-cone dystrophy	ORPHA:96181
Kearns-Sayre Syndrome	Sideroblastic anemia, Pigmentary retinopathy	OMIM:530000
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome	Hypochromic microcytic anemia, Thrombocytopenia, Increased circulating ferritin concentration	ORPHA:3240
Lig4 Syndrome	Thrombocytopenia, Pancytopenia	OMIM:606593
Prolidase Deficiency	White forelock, Splenomegaly, Abnormality of retinal pigmentation	ORPHA:742
Cohen Syndrome	Abnormality of skin pigmentation, Optic atrophy, Abnormality of retinal pigmentation, Chorioretin...	ORPHA:193
Osteopetrosis, Autosomal Recessive 5	Anemia, Optic atrophy, Hyperbilirubinemia, Pancytopenia, Hepatosplenomegaly, Hypochromic microcyt...	OMIM:259720
Vexas Syndrome	Thrombocytopenia, Elevated circulating C-reactive protein concentration, Macrocytic anemia	OMIM:301054
Neurodevelopmental Disorder With Hearing Loss, Seizures, And Brain Abnormalities	Thrombocytopenia	OMIM:616577
Aniridia And Absent Patella	Cataract, Aniridia	OMIM:106220
Eisenmenger Syndrome	Hypochromic microcytic anemia, Increased mean corpuscular volume, Iron deficiency anemia	ORPHA:97214
Thymoma	Weight loss, Leukemia, Imbalanced hemoglobin synthesis, Aplastic anemia, Pure red cell aplasia	ORPHA:99867
Systemic Mastocytosis With Associated Hematologic Neoplasm	Acute myeloid leukemia, Myeloid leukemia, Increased basophil count, Chronic lymphatic leukemia, C...	ORPHA:98849
Mucopolysaccharidosis, Type Ii	Papilledema, Splenomegaly, Abnormality of retinal pigmentation, Hepatosplenomegaly	OMIM:309900
Joubert Syndrome 8	Optic disc pallor, Pigmentary retinopathy	OMIM:612291
Letterer-Siwe Disease	Thrombocytopenia, Anemia, Neutropenia, Hepatosplenomegaly	OMIM:246400
Holoprosencephaly-Craniosynostosis Syndrome	Abnormality of retinal pigmentation	ORPHA:2163
Schimke Immuno-Osseous Dysplasia	Anemia, Multiple lentigines, Lymphopenia, Hypermelanotic macule, Hyperlipidemia, Decreased propor...	ORPHA:1830
Immunodeficiency, Common Variable, 8, With Autoimmunity	Chronic neutropenia, B lymphocytopenia, Pancytopenia, Autoimmune thrombocytopenia, Autoimmune hem...	OMIM:614700
Portal Hypertension, Noncirrhotic, 2	Thrombocytopenia, Splenomegaly	OMIM:619463
Rh Deficiency Syndrome	Hypoxemia, Tachypnea	ORPHA:71275
Snakebite Envenomation	Thrombocytopenia, Hyponatremia	ORPHA:449285
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy	Anemia, Pigmentary retinopathy, Optic atrophy	ORPHA:436271
Fanconi Anemia, Complementation Group E	Anemia, Cafe-au-lait spot, Reticulocytopenia, Pancytopenia, Hyperpigmentation of the skin, Thromb...	OMIM:600901
Cataract 5, Multiple Types	Lamellar cataract, Zonular cataract, Pulverulent cataract, Anterior polar cataract, Nuclear cataract	OMIM:116800
Hyperparathyroidism, Neonatal Severe	Dyspnea, Tachypnea	OMIM:239200
Blue Rubber Bleb Nevus	Iron deficiency anemia, Hypermelanotic macule, Thrombocytopenia	OMIM:112200
Smith-Kingsmore Syndrome	Thrombocytopenia, Cafe-au-lait spot	OMIM:616638
Lowry-Wood Syndrome	Abnormality of retinal pigmentation	ORPHA:1824
X-Linked Intellectual Disability-Limb Spasticity-Retinal Dystrophy-Diabetes Insipidus Syndrome	HbH hemoglobin, Severe failure to thrive	ORPHA:423479
Knobloch Syndrome	Macular degeneration, Vitreoretinopathy, Ectopia lentis, Cataract, Retinal detachment, Abnormal v...	ORPHA:1571
Coffin-Lowry Syndrome	Optic atrophy, Abnormality of retinal pigmentation	ORPHA:192
Orofaciodigital Syndrome Type 6	Apnea, Gait disturbance, Ataxia, Episodic tachypnea	ORPHA:2754
Chromosome 6Pter-P24 Deletion Syndrome	Pigmentary retinopathy	OMIM:612582
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis	Thrombocytopenia, Leukocytosis, Hyponatremia	ORPHA:83601
Von Willebrand Disease, Type 3	Thrombocytopenia, Impaired platelet aggregation	OMIM:277480
Werner Syndrome	White forelock, Premature graying of hair, Abnormality of retinal pigmentation	ORPHA:902
Dystonia, Childhood-Onset, With Optic Atrophy And Basal Ganglia Abnormalities	Optic disc pallor, Pigmentary retinopathy, Optic atrophy	OMIM:617282
Mitochondrial Complex Iv Deficiency, Nuclear Type 1	Anemia, Pigmentary retinopathy, Optic atrophy	OMIM:220110
Autosomal Dominant Optic Atrophy And Cataract	Optic atrophy, Cerulean cataract, Ataxia, Anterior subcapsular cataract, Posterior subcapsular ca...	ORPHA:67036
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked	Kyphosis, Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia, HbH hemoglobin, Kyph...	OMIM:301040
Transaldolase Deficiency	Anemia, Pancytopenia, Hepatosplenomegaly, Thrombocytopenia, Splenomegaly	OMIM:606003
Hereditary Folate Malabsorption	Thrombocytopenia, Megaloblastic anemia, Pancytopenia, Eosinophilia	ORPHA:90045
Fanconi Anemia, Complementation Group A	Anemia, Abnormality of skin pigmentation, Cafe-au-lait spot, Reticulocytopenia, Pancytopenia, Thr...	OMIM:227650
Acute Promyelocytic Leukemia	Leukopenia, Anemia, Pancytopenia, Leukocytosis, Thrombocytopenia, Neutropenia	ORPHA:520
Schimke Immunoosseous Dysplasia	Anemia, Abnormal T cell morphology, Lymphopenia, Pancytopenia, Hypermelanotic macule, Thrombocyto...	OMIM:242900
Dyskeratosis Congenita, Autosomal Recessive 1	Pancytopenia, Reticular hyperpigmentation, Hyperpigmentation of the skin, Thrombocytopenia, Aplas...	OMIM:224230
Pearson Syndrome	Pigmentary retinopathy, Anemia, Hyperalaninemia, Cafe-au-lait spot, Hypokalemia, Hypophosphatemia...	ORPHA:699
Peroxisome Biogenesis Disorder 5A (Zellweger)	Pigmentary retinopathy, Brushfield spots, Optic nerve dysplasia, Rod-cone dystrophy, Elevated cir...	OMIM:614866
Cockayne Syndrome Type 1	Anemia, Optic atrophy, Increased blood urea nitrogen, Hypermelanotic macule, Pigmentary retinopathy	ORPHA:90321
Neuroleptic Malignant Syndrome	Hyperphosphatemia, Hyperuricemia, Hyperkalemia, Elevated circulating creatine kinase concentratio...	ORPHA:94093
Immunodeficiency 22	Thrombocytopenia, Retinal vasculitis, Anemia, Decreased proportion of CD4-positive helper T cells	OMIM:615758
Necrotizing Enterocolitis	Thrombocytopenia, Neutropenia, Leukocytosis, Hyponatremia	ORPHA:391673
Acquired Methemoglobinemia	Methemoglobinemia	ORPHA:464453
Malignant Hyperthermia Of Anesthesia	Hypercapnia, Tachypnea	ORPHA:423
Mirage Syndrome	Leukopenia, Anemia, Hyperkalemia, Lymphopenia, Thrombocytopenia, Hyponatremia, Hypoplastic spleen	OMIM:617053
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia	Vitiligo, Asplenia, Perifoveal ring of hyperautofluorescence, Pigmentary retinopathy	OMIM:240300
Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency	Thrombocytopenia, Neutropenia, Anemia	OMIM:614520
Autosomal Dominant Cerebellar Ataxia-Deafness-Narcolepsy Syndrome	Depression, Ataxia, Cataract, Optic atrophy	ORPHA:314404
Microcephaly-Lymphedema-Chorioretinopathy Syndrome	Retinopathy, Optic atrophy, Retinal dystrophy, Abnormality of retinal pigmentation, Retinal dyspl...	ORPHA:2526
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)	Hyperbilirubinemia, Elevated circulating alpha-fetoprotein concentration, Thrombocytopenia, Splen...	OMIM:251880
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome	Rod-cone dystrophy, Pigmentary retinopathy	ORPHA:2235
Thrombocytopenia 6	Thrombocytopenia	OMIM:616937
Braddock-Carey Syndrome 1	Thrombocytopenia	OMIM:619980
Cataract 20, Multiple Types	Cortical cataract, Sutural cataract, Lamellar cataract, Membranous cataract	OMIM:116100
Boutonneuse Fever	Leukopenia, Thrombocytopenia	ORPHA:83313
Nijmegen Breakage Syndrome	Progressive vitiligo, Cafe-au-lait spot, T lymphocytopenia, B lymphocytopenia, Retinal pigment ep...	OMIM:251260
Exercise-Induced Malignant Hyperthermia	Hypocapnia, Ataxia, Crackles, Lethargy, Tachypnea	ORPHA:466650
Osteopetrosis With Renal Tubular Acidosis	Leukopenia, Anemia, Abnormal retinal morphology, Optic atrophy, Retinal atrophy, Elliptocytosis, ...	ORPHA:2785
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome	Abnormal natural killer cell count, Anemia, T lymphocytopenia, Pancytopenia, Hepatosplenomegaly, ...	ORPHA:79124
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome	Multiple cafe-au-lait spots, Melanocytic nevus, Generalized hypopigmentation, Abnormality of reti...	ORPHA:1969
Cyclic Neutropenia	Thrombocytopenia, Decreased eosinophil count, Cyclic neutropenia, Lymphopenia	ORPHA:2686
Proteasome-Associated Autoinflammatory Syndrome 3	Anemia, Lymphopenia, Thrombocytopenia, Hypertriglyceridemia, Splenomegaly	OMIM:617591
Bardet-Biedl Syndrome	Pigmentary retinopathy	ORPHA:110
Shiga Toxin-Associated Hemolytic Uremic Syndrome	Unconjugated hyperbilirubinemia, Hypokalemia, Microangiopathic hemolytic anemia, Reticulocytosis,...	ORPHA:90038
Combined Oxidative Phosphorylation Deficiency 14	Thrombocytopenia, Anemia, Elevated hepatic iron concentration	OMIM:614946
Prolidase Deficiency	Thrombocytopenia, Splenomegaly, Anemia	OMIM:170100
Scorpion Envenomation	Ataxia, Abnormal nasal mucus secretion, Mydriasis, Tachypnea	ORPHA:466677
Beemer-Ertbruggen Syndrome	Thrombocytopenia	ORPHA:1237
Lead Poisoning	Small for gestational age, Imbalanced hemoglobin synthesis, Abnormal T cell morphology, Anemia	ORPHA:330015
Noonan Syndrome 4	Thrombocytopenia, Blue irides	OMIM:610733
Norrie Disease	Abnormal pupil morphology, Self-injurious behavior, Optic atrophy, Hypoplasia of the iris, Anteri...	ORPHA:649
Fanconi Anemia, Complementation Group C	Anemia, Cafe-au-lait spot, Reticulocytopenia, Pancytopenia, Hyperpigmentation of the skin, Thromb...	OMIM:227645
Mitochondrial Trifunctional Protein Deficiency	Hypocalcemia, Pigmentary retinopathy	ORPHA:746
Autosomal Dominant Cerebellar Ataxia	Retinal degeneration, Macular degeneration, Pigmentary retinopathy	ORPHA:99
Wilson Disease	Thrombocytopenia, Splenomegaly, Anemia	ORPHA:905
Peroxisome Biogenesis Disorder 1A (Zellweger)	Pigmentary retinopathy, Brushfield spots, Optic disc pallor, Elevated circulating long chain fatt...	OMIM:214100
Arthrogryposis, Renal Dysfunction, And Cholestasis 1	Thrombocytopenia, Conjugated hyperbilirubinemia	OMIM:208085
Pearson Marrow-Pancreas Syndrome	Anemia, Reticulocytopenia, Hyperbilirubinemia, Refractory sideroblastic anemia, Sideroblastic ane...	OMIM:557000
Thrombocytopenia 1	Congenital thrombocytopenia, Decreased mean platelet volume, Intermittent thrombocytopenia	OMIM:313900
Tubulointerstitial Nephritis And Uveitis Syndrome	Vitreous hemorrhage, Reduced hematocrit, Macular edema, Normocytic anemia, Choroidal neovasculari...	ORPHA:91500
Cartilage-Hair Hypoplasia	Hypocalcemia, Neutropenia, Anemia, Abnormality of retinal pigmentation	ORPHA:175
Fanconi Anemia, Complementation Group B	Aplastic anemia, Thrombocytopenia, Optic disc hypoplasia	OMIM:300514
Sepsis In Premature Infants	Anemia, Elevated circulating C-reactive protein concentration, Leukocytosis, Thrombocytopenia, Ne...	ORPHA:90051
Congenital Erythropoietic Porphyria	Reduced haptoglobin level, Abnormal circulating porphyrin concentration, Leukopenia, Hypopigmenta...	ORPHA:79277
Gaucher Disease Type 1	Leukopenia, Anemia, Hypersplenism, Pancytopenia, Thrombocytopenia, Splenomegaly	ORPHA:77259
Lowry-Wood Syndrome	Pigmentary retinopathy	OMIM:226960
Retinoblastoma	Retinoblastoma, Vitreous hemorrhage, Retinal calcification, Subretinal pigment epithelium hemorrh...	ORPHA:790
Aicardi Syndrome	Abnormality of skin pigmentation, Optic atrophy, Abnormality of retinal pigmentation, Chorioretin...	ORPHA:50
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome	Leukopenia, Anemia, Reticulocytopenia, B lymphocytopenia, Lymphopenia, Thrombocytopenia, Neutropenia	ORPHA:508542
Catastrophic Antiphospholipid Syndrome	Coombs-positive hemolytic anemia, Thrombocytopenia, Microangiopathic hemolytic anemia, Retinal ar...	ORPHA:464343
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis	Retinal pigment epithelial mottling, Mildly elevated creatine kinase	OMIM:607459
Congenital Disorder Of Glycosylation, Type Iig	Thrombocytopenia, Anemia, Giant platelets	OMIM:611209
Cockayne Syndrome	Pigmentary retinopathy, Retinal hemorrhage, Retinal arteriolar constriction, Hyperuricemia, Optic...	ORPHA:191
Combined Immunodeficiency Due To Crac Channel Dysfunction	Hemolytic anemia, Thrombocytopenia, Splenomegaly	ORPHA:169090
Pediatric-Onset Graves Disease	Neutropenia in presence of anti-neutropil antibodies, Thrombocytopenia, Splenomegaly	ORPHA:525731
Lysinuric Protein Intolerance	Leukopenia, Anemia, Intraalveolar phospholipid accumulation, Hyperalaninemia, Hyperglycinemia, Hy...	ORPHA:470
Rajab Interstitial Lung Disease With Brain Calcifications 1	Respiratory insufficiency, Emphysema, Cough, Respiratory failure, Tachypnea	OMIM:613658
Farber Disease	Anemia, Macular degeneration, Hepatosplenomegaly, Thrombocytopenia, Cherry red spot of the macula	ORPHA:333
Alg12-Cdg	B lymphocytopenia, Retinal detachment, Hyponatremia, Hypocholesterolemia, Thrombocytopenia, Hypoa...	ORPHA:79324
Cystinosis, Nephropathic	Reduced blood urea nitrogen, Pigmentary retinopathy, Hypopigmentation of the skin, Retinopathy, H...	OMIM:219800
Neutropenia, Severe Congenital, 4, Autosomal Recessive	Leukopenia, Anemia, Hypoplasia of the thymus, Erythroid hypoplasia, Hepatosplenomegaly, Lymphopen...	OMIM:612541
Pediatric Systemic Lupus Erythematosus	Leukopenia, Thrombocytopenia, Microangiopathic hemolytic anemia, Lymphopenia	ORPHA:93552
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure	Thrombocytopenia, Normochromic anemia, Hypoalbuminemia	OMIM:254900
Rift Valley Fever	Retinal hemorrhage, Anemia, Macular edema, Retinitis, Retinal vasculitis, Thrombocytopenia	ORPHA:319251
Immunodeficiency 40	Thrombocytopenia, T lymphocytopenia	OMIM:616433
Lysinuric Protein Intolerance	Leukopenia, Anemia, Intraalveolar phospholipid accumulation, Hyperammonemia, Increased circulatin...	OMIM:222700
Cerebroretinal Microangiopathy With Calcifications And Cysts 1	Anemia, Optic atrophy, Premature graying of hair, Exudative retinopathy, Retinal telangiectasia, ...	OMIM:612199
Hepatocellular Carcinoma	Anemia, Hypokalemia, Hyperbilirubinemia, Polycythemia, Hypercalcemia, Thrombocytosis, Hyponatremi...	ORPHA:88673
Goodpasture Syndrome	Cyanosis, Exertional dyspnea, Crackles, Restrictive ventilatory defect, Cough, Increased DLCO, Ta...	OMIM:233450
Infantile Nephropathic Cystinosis	Hypokalemia, Hypophosphatemia, Pigmentary retinopathy, Abnormal blood ion concentration	ORPHA:411629
Mitochondrial Complex I Deficiency, Nuclear Type 20	Thrombocytopenia	OMIM:611126
Aortic Arch Interruption	Cyanosis, Exertional dyspnea, Tachypnea, Respiratory distress	ORPHA:2299
Fanconi Anemia, Complementation Group F	Leukopenia, Anemia, Cafe-au-lait spot, Hyperpigmentation of the skin, Thrombocytopenia	OMIM:603467
Takenouchi-Kosaki Syndrome	Thrombocytopenia, Increased mean platelet volume, Optic atrophy	OMIM:616737
Pseudo-Torch Syndrome 1	Thrombocytopenia, Splenomegaly	OMIM:251290
Melas	Vitiligo, Anemia, Pigmentary retinopathy, Optic atrophy	ORPHA:550
Classic Homocystinuria	Retinal detachment, Optic atrophy, Abnormality of retinal pigmentation	ORPHA:394
Paroxysmal Nocturnal Hemoglobinuria	Reduced haptoglobin level, Leukopenia, Anemia, Hemolytic anemia, Unconjugated hyperbilirubinemia,...	ORPHA:447
3-Methylglutaconic Aciduria, Type Viib	Leukopenia, Thrombocytopenia, Neutropenia	OMIM:616271
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome	Splenomegaly, Decreased LDL cholesterol concentration, Cone/cone-rod dystrophy, Optic atrophy, Op...	ORPHA:404454
Wilson Disease	Anemia, Hemolytic anemia, Decreased circulating ceruloplasmin concentration, Increased circulatin...	OMIM:277900
Bardet-Biedl Syndrome 1	Rod-cone dystrophy, Hyperautofluorescent macular lesion, Retinal degeneration, Retinal dystrophy,...	OMIM:209900
Ebola Hemorrhagic Fever	Leukopenia, Thrombocytopenia, Lymphopenia	ORPHA:319218
Khan-Khan-Katsanis Syndrome	Anemia, Neutropenia, Pigmentary retinopathy, Lymphopenia	OMIM:618460
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia	Lymphocytosis, Thrombocytopenia, Decreased mean platelet volume, Elevated circulating C-reactive ...	OMIM:617718
Kasabach-Merritt Syndrome	Leukopenia, Anemia, Microangiopathic hemolytic anemia, Reticulocytosis, Thrombocytopenia, Neutrop...	ORPHA:2330
Immunodeficiency With Hyper-Igm, Type 1	Hemolytic anemia, Thrombocytopenia, Neutropenia, Splenomegaly	OMIM:308230
Pseudo-Torch Syndrome 2	Thrombocytopenia	OMIM:617397
Lujo Hemorrhagic Fever	Leukopenia, Lymphopenia, Elevated circulating C-reactive protein concentration, Leukocytosis, Thr...	ORPHA:319213
Mucopolysaccharidosis Type 2	Retinopathy, Abnormal foveal morphology, Optic atrophy, Retinal degeneration, Abnormality of reti...	ORPHA:580
Microphthalmia With Linear Skin Defects Syndrome	Abnormality of skin pigmentation, Vitritis, Retinal dystrophy, Abnormality of retinal pigmentatio...	ORPHA:2556
Mogs-Cdg	Fair hair, Thrombocytopenia, Optic atrophy, Hepatosplenomegaly	ORPHA:79330
Mitochondrial Dna-Associated Leigh Syndrome	Rod-cone dystrophy, Hyperalaninemia, Optic atrophy, Pigmentary retinopathy, Low plasma citrulline	ORPHA:255210
Wars2-Related Combined Oxidative Phosphorylation Defect	Thrombocytopenia, Rod-cone dystrophy	ORPHA:572798
Trisomy 18	Abnormality of retinal pigmentation	ORPHA:3380
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome	Thrombocytopenia, High nonceruloplasmin-bound serum copper	ORPHA:457351
Neurofibromatosis Type 1	Melanocytic nevus, Generalized hyperpigmentation, Hypopigmented skin patches, Abnormality of reti...	ORPHA:636
Chromosome 8Q21.11 Deletion Syndrome	Pigmentary retinopathy	OMIM:614230
Aicardi-Goutieres Syndrome 1	Thrombocytopenia, Splenomegaly	OMIM:225750
Adams-Oliver Syndrome	Leukopenia, Thrombocytopenia	ORPHA:974
Shigellosis	Microangiopathic hemolytic anemia, Abnormal blood ion concentration, Leukocytosis, Hyponatremia, ...	ORPHA:810
Immunodeficiency 47	Leukopenia, Normocytic anemia, Decreased circulating copper concentration, Accessory spleen, Hype...	OMIM:300972
Fanconi Anemia, Complementation Group D2	Anemia, Abnormality of skin pigmentation, Cafe-au-lait spot, Reticulocytopenia, Pancytopenia, Thr...	OMIM:227646
Wiskott-Aldrich Syndrome	Anemia, Hypoplasia of the thymus, Hemolytic anemia, Abnormal platelet function, Abnormal eosinoph...	ORPHA:906
Orofaciodigital Syndrome Type 2	Apnea, Central retinal vessel vascular tortuosity, Tachypnea	ORPHA:2751
Gaucher Disease, Perinatal Lethal	Thrombocytopenia, Splenomegaly, Anemia, Hepatosplenomegaly	OMIM:608013
Mucopolysaccharidosis Type 3	Splenomegaly, Rod-cone dystrophy, Optic atrophy, Retinal degeneration, Pigmentary retinopathy	ORPHA:581
Tangier Disease	Anemia, Hepatosplenomegaly, Hypocholesterolemia, Thrombocytopenia, Hypertriglyceridemia	ORPHA:31150
Good Syndrome	Anemia, Thrombocytopenia, Abnormal leukocyte morphology	ORPHA:169105
Mucopolysaccharidosis Type 2, Severe Form	Retinopathy, Abnormal foveal morphology, Optic atrophy, Abnormality of retinal pigmentation, Hepa...	ORPHA:217085
Marburg Hemorrhagic Fever	Leukopenia, Hypokalemia, Reticulocytosis, Elevated circulating creatine kinase concentration, Lym...	ORPHA:99826
21Q22.11Q22.12 Microdeletion Syndrome	Thrombocytopenia, Periorbital hyperpigmentation, Anemia	ORPHA:261323
Mucopolysaccharidosis Type 2, Attenuated Form	Retinopathy, Abnormal foveal morphology, Optic atrophy, Abnormality of retinal pigmentation, Hepa...	ORPHA:217093
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome	Retinal hemorrhage, Hyperbilirubinemia, Thrombocytopenia, Vitreous hemorrhage	ORPHA:464321
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome	Anemia, Abnormal hemoglobin	ORPHA:847
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z	Abnormality of retinal pigmentation	ORPHA:466768
Diamond-Blackfan Anemia 21	Anemia, Thrombocytopenia, Erythroid hypoplasia	OMIM:620072
Cockayne Syndrome A	Pigmentary retinopathy, Abnormality of skin pigmentation, Optic atrophy, Retinal atrophy, Retinal...	OMIM:216400
Insulin-Resistance Syndrome Type B	Leukopenia, Abnormal circulating lipid concentration, Abnormal circulating fatty-acid concentrati...	ORPHA:2298
Ivic Syndrome	Thrombocytopenia, Leukocytosis	ORPHA:2307
Chronic Visceral Acid Sphingomyelinase Deficiency	Abnormal circulating lipid concentration, Hypersplenism, Acute promyelocytic leukemia, Autoimmune...	ORPHA:77293
Kaposiform Lymphangiomatosis	Anemia, Abnormal spleen morphology, Hepatosplenomegaly, Thrombocytopenia, Splenomegaly	ORPHA:464329
Immunodeficiency 87 And Autoimmunity	Decreased CD4:CD8 ratio, Hemolytic anemia, Hypokalemia, Decreased proportion of CD4-positive T ce...	OMIM:619573
Osteogenesis Imperfecta	Biconcave vertebral bodies, Kyphosis, Small for gestational age, Cervical kyphosis, Vertebral com...	ORPHA:666
Myhre Syndrome	Vertebral fusion, Small for gestational age, Enlarged vertebral pedicles, Short neck, Platyspondy...	OMIM:139210
Mitochondrial Complex Iv Deficiency, Nuclear Type 5	Truncal ataxia, Dysmetria, Ataxia, Tachypnea	OMIM:220111
Lathosterolosis	Thrombocytopenia, Abnormal platelet morphology, Anisopoikilocytosis	ORPHA:46059
Shwachman-Diamond Syndrome 2	Normocytic anemia, Thrombocytopenia, Neutropenia	OMIM:617941
Gaucher Disease	Anemia, Retinopathy, Abnormality of skin pigmentation, Abnormal macular morphology, Pancytopenia,...	ORPHA:355
Bone Fragility With Contractures, Arterial Rupture, And Deafness	Thrombocytopenia	OMIM:612394
Hardikar Syndrome	Pigmentary retinopathy, Hypersplenism, Hyperbilirubinemia, Hepatosplenomegaly, Thrombocytopenia, ...	OMIM:301068
Hellp Syndrome	Thrombocytopenia, Decreased mean corpuscular hemoglobin concentration, Microangiopathic hemolytic...	ORPHA:244242
Dyskeratosis Congenita	Anemia, Premature graying of hair, Abnormality of neutrophils, Hypopigmented skin patches, White ...	ORPHA:1775
Neurodegeneration With Brain Iron Accumulation 1	Optic atrophy, Retinal degeneration, Hyperpigmentation of the skin, Pigmentary retinopathy, Acant...	OMIM:234200
Fetal And Neonatal Alloimmune Thrombocytopenia	Neonatal alloimmune thrombocytopenia	ORPHA:853
Jacobsen Syndrome	Macular hypoplasia, Thrombocytopenia, Chorioretinal coloboma, Optic atrophy	OMIM:147791
Tick-Borne Encephalitis	Leukopenia, Thrombocytopenia, Elevated circulating C-reactive protein concentration, Leukocytosis	ORPHA:297
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome	T lymphocytopenia, B lymphocytopenia, Neutropenia in presence of anti-neutropil antibodies, Lymph...	ORPHA:391487
Proteus Syndrome	Irregular hyperpigmentation, Abnormality of skin pigmentation, Melanocytic nevus, Central heteroc...	ORPHA:744
Gaucher Disease, Type Ii	Thrombocytopenia, Splenomegaly, Anemia	OMIM:230900
Caroli Syndrome	Leukopenia, Hypersplenism, Hyperbilirubinemia, Leukocytosis, Thrombocytopenia, Conjugated hyperbi...	ORPHA:480520
Brucellosis	Leukopenia, Anemia, Chorioretinitis, Hypersplenism, Elevated circulating C-reactive protein conce...	ORPHA:1304
Dubowitz Syndrome	Anemia, Abnormality of skin pigmentation, Acute lymphoblastic leukemia, Abnormality of neutrophil...	ORPHA:235
Aicardi-Goutieres Syndrome 7	Anemia, Hemolytic anemia, Pancytopenia, Increased circulating ferritin concentration, Thrombocyto...	OMIM:615846
Ivic Syndrome	Thrombocytopenia, Leukocytosis	OMIM:147750
Porphyria, Congenital Erythropoietic	Hypopigmentation of the skin, Hemolytic anemia, Hyperpigmentation of the skin, Thrombocytopenia, ...	OMIM:263700
Leptospirosis	Retinal hemorrhage, Chorioretinitis, Optic neuritis, Thrombocytopenia, Hyperproteinemia, Papilled...	ORPHA:509
Diamond-Blackfan Anemia 1	Reticulocytopenia, Thrombocytosis, Thrombocytopenia, Neutropenia, Elevated red cell adenosine dea...	OMIM:105650
Atypical Werner Syndrome	Patchy hypo- and hyperpigmentation, Premature graying of hair, Retinal degeneration, Abnormality ...	ORPHA:79474
Thrombocytopenia-Absent Radius Syndrome	Thrombocytopenia	ORPHA:3320
Cockayne Syndrome B	Pigmentary retinopathy, Abnormality of skin pigmentation, Splenomegaly, Optic atrophy	OMIM:133540
Wiskott-Aldrich Syndrome	Absent microvilli on the surface of peripheral blood lymphocytes, Decreased proportion of CD8-pos...	OMIM:301000
Idiopathic Hypereosinophilic Syndrome	Anemia, Neutrophilia, Hepatosplenomegaly, Thrombocytosis, Eosinophilia, Myeloproliferative disord...	ORPHA:3260
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome	Hypocalcemia, Thrombocytopenia, Hyperbilirubinemia, Anemia	ORPHA:163979
Dyskeratosis Congenita, X-Linked	Acute myeloid leukemia, Leukopenia, Anemia, Optic atrophy, Premature graying of hair, Pancytopeni...	OMIM:305000
Cornelia De Lange Syndrome 1	Thrombocytopenia, Optic disc coloboma, Optic atrophy	OMIM:122470
Spondylocarpotarsal Synostosis Syndrome	Abnormality of retinal pigmentation	OMIM:272460
Q Fever	Thrombocytopenia, Splenomegaly, Anemia, Hepatosplenomegaly	ORPHA:781
Crimean-Congo Hemorrhagic Fever	Leukopenia, Retinal hemorrhage, Neutrophilia, Pancytopenia, Elevated circulating creatine kinase ...	ORPHA:99827
Alagille Syndrome 1	Pigmentary retinopathy, Hypertriglyceridemia, Chorioretinal atrophy, Hypercholesterolemia	OMIM:118450
Nijmegen Breakage Syndrome	Hemolytic anemia, Autoimmune hemolytic anemia, Freckling, Thrombocytopenia, Acute leukemia	ORPHA:647
Yellow Fever	Hyperbilirubinemia, Neutrophilia, Elevated circulating creatine kinase concentration, Leukocytosi...	ORPHA:99829
Hemorrhagic Fever-Renal Syndrome	Hyperphosphatemia, Anemia, Hyperkalemia, Leukocytosis, Elevated circulating creatinine concentrat...	ORPHA:340
Gaucher Disease Type 3	Anemia, Thrombocytopenia, Splenomegaly, Pancytopenia	ORPHA:77261
Stevens-Johnson Syndrome	Thrombocytopenia, Anemia, Abnormality of neutrophils	ORPHA:36426
Toxic Epidermal Necrolysis	Thrombocytopenia, Neutropenia, Anemia	ORPHA:537
Truncus Arteriosus	Cyanosis, Tachypnea	ORPHA:3384
Kikuchi-Fujimoto Disease	Leukopenia, Anemia, Lymphocytosis, Elevated circulating C-reactive protein concentration, Thrombo...	ORPHA:50918
Oculocerebrorenal Syndrome Of Lowe	Anemia, Hyponatremia, Generalized hypopigmentation, Hypokalemia, Hypophosphatemia, Chorioretinal ...	ORPHA:534
Infection-Related Hemolytic Uremic Syndrome	Hemolytic anemia, Hyperkalemia, Thrombocytopenia, Leukocytosis, Hyponatremia, Hypocalcemia	ORPHA:544482
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia	Thrombocytopenia, Decreased hemoglobin concentration	OMIM:619005
Fibular Hemimelia	Thrombocytopenia	ORPHA:93323
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome	Anemia, Lymphopenia, Severe B lymphocytopenia, Accessory spleen, Thrombocytopenia	OMIM:620005
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome	Thrombocytopenia, Increased mean platelet volume, Optic atrophy	ORPHA:487796
Ramon Syndrome	Optic disc pallor, Pigmentary retinopathy	OMIM:266270
Alport Syndrome 1, X-Linked	Thrombocytopenia	OMIM:301050
Linear Skin Defects With Multiple Congenital Anomalies 1	Pigmentary retinopathy	OMIM:309801
Fanconi Anemia	Leukopenia, Anemia, Abnormality of skin pigmentation, Irregular hyperpigmentation, Pyridoxine-res...	ORPHA:84
Proteasome-Associated Autoinflammatory Syndrome 1	Premature graying of hair, Decreased HDL cholesterol concentration, Elevated circulating C-reacti...	OMIM:256040
22Q11.2 Deletion Syndrome	Abnormality of thrombocytes, Hypoplasia of the thymus, Optic atrophy, Retinal arteriolar tortuosi...	ORPHA:567
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis	Thrombocytopenia, Splenomegaly	OMIM:301072
Primary Sjögren Syndrome	Leukopenia, Normocytic anemia, Lymphopenia, Optic neuritis, Decreased proportion of CD4-positive ...	ORPHA:289390
Cancer-Associated Retinopathy	Retinal pigment epithelial atrophy, Foveal hyporeflective spaces on macular OCT, Optic atrophy, V...	ORPHA:71505
Liver Disease, Severe Congenital	Leukopenia, Anemia, Hyperalaninemia, Elevated hepatic iron concentration, Hyperbilirubinemia, Lym...	OMIM:619991
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome	Anemia, Pancytopenia, Hepatosplenomegaly, Thrombocytopenia, Abnormality of the spleen, Papilledem...	ORPHA:2072
Thrombocytopenia-Absent Radius Syndrome	Anemia, Hepatosplenomegaly, Leukocytosis, Eosinophilia, Thrombocytopenia	OMIM:274000
Ogden Syndrome	Iron deficiency anemia, Hyperbilirubinemia, Thrombocytopenia, Polycythemia	OMIM:300855
Deeah Syndrome	Thrombocytopenia, Decreased hemoglobin concentration	OMIM:619004
Lipodystrophy, Familial Partial, Type 7	Hypertriglyceridemia, Pigmentary retinopathy, Hypercholesterolemia	OMIM:606721
Autosomal Recessive Polycystic Kidney Disease	Hypersplenism, Hepatosplenomegaly, Increased serum bile acid concentration, Hyponatremia, Thrombo...	ORPHA:731
Igg4-Related Dacryoadenitis And Sialadenitis	Abnormal optic nerve morphology, Thrombocytopenia, Optic nerve compression	ORPHA:79078
Jacobsen Syndrome	Thrombocytopenia	ORPHA:2308
Sarcoidosis	Leukopenia, Anemia, Hypopigmentation of the skin, Hemolytic anemia, Increased T cell count, Hyper...	ORPHA:797
Wiedemann-Rautenstrauch Syndrome	Pigmentary retinopathy, Hypertriglyceridemia, Optic disc hypoplasia, Optic atrophy	ORPHA:3455
Roberts Syndrome	Thrombocytopenia	ORPHA:3103
Congenital Disorder Of Glycosylation, Type Iiw	Anemia, Thrombocytopenia, Splenomegaly, Microcytic anemia	OMIM:619525
Aicardi-Goutières Syndrome	Neonatal alloimmune thrombocytopenia, Chronic lymphatic leukemia, Hepatosplenomegaly	ORPHA:51
Acute Liver Failure	Thrombocytopenia, Hyperammonemia	ORPHA:90062
Digeorge Syndrome	Anemia, Hypoplasia of the thymus, Thrombocytopenia, Hypocalcemia, Splenomegaly	OMIM:188400
Noonan Syndrome 1	Amegakaryocytic thrombocytopenia, Juvenile myelomonocytic leukemia, Cafe-au-lait spot	OMIM:163950

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 Epc2

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 Epc2.

There are 3 publications which use IMPC produced mice or data.

Title	Journal	IMPC Allele	PubMed ID
Large-scale neuroanatomical study uncovers 198 gene associations in mouse brain morphogenesis.	Nature communications (August 2019)	Epc2^{tm1e(EUCOMM)Wtsi}	PMC6671969
Mouse screen reveals multiple new genes underlying mouse and human hearing loss.	PLoS biology (April 2019)	Epc2^{tm1a(EUCOMM)Wtsi}	PMC6459510
An efficient method for generation of bi-allelic null mutant mouse embryonic stem cells and its application for investigating epigenetic modifiers.	Nucleic acids research (December 2017)	Epc2^{tm1a(EUCOMM)Wtsi}	PMC5716182

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MGI Allele	Allele Type	Produced
Epc2^{tm2a(EUCOMM)Wtsi}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors, ES Cells
Epc2^{tm34341(L1L2_Bact_P)}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors
Epc2^{tm1a(EUCOMM)Wtsi}	KO first allele (reporter-tagged insertion with conditional potential)	Mice, Targeting vectors, ES Cells
Epc2^{tm1b(EUCOMM)Wtsi}	Reporter-tagged deletion allele (with selection cassette)	Mice
Epc2^{tm1e(EUCOMM)Wtsi}	Targeted, non-conditional allele	Mice, ES Cells

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Gene: Epc2 MGI:1278321

Gene Summary

IMPC Data Collections

IMPC Phenotype Summary

Phenotypes

lacZ Expression

Associated Images

X-ray

Electrocardiogram (ECG)

X-ray

Legacy Phenotype Associated Images

Human diseases caused by Epc2 mutations

Histopathology

IMPC related publications

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Access Data Release 19.0 Data