Thalassemia, Beta+, Silent Allele |
|
Reduced beta/alpha synthesis ratio |
OMIM:187550 |
Fetal Hemoglobin Quantitative Trait Locus 1 |
|
Persistence of hemoglobin F |
OMIM:141749 |
Hemoglobin-Delta locus |
|
Anemia, Imbalanced hemoglobin synthesis |
OMIM:142000 |
Atr-16 syndrome |
|
Abnormal erythrocyte morphology |
DECIPHER:65 |
Hemoglobin E-Beta-Thalassemia Syndrome |
|
Anemia, Abnormal hemoglobin |
ORPHA:231249 |
Stargardt Disease 1 |
|
Retinitis pigmentosa inversa, Macular degeneration, Bull's eye maculopathy |
OMIM:248200 |
Acetophenetidin Sensitivity |
|
Methemoglobinemia, Hemolytic anemia |
OMIM:200300 |
Choroidal Dystrophy, Central Areolar, 1 |
|
Pigmentary retinopathy, Choriocapillaris atrophy, Chorioretinal atrophy |
OMIM:215500 |
Retinal Dysplasia, Primary |
|
Retinal dysplasia, Falciform retinal fold |
OMIM:312550 |
Retinal Dystrophy, Reticular Pigmentary, Of Posterior Pole |
|
Reticular pigmentary degeneration, Drusen, Retinal dystrophy |
OMIM:267800 |
Diamond-Blackfan Anemia-Like |
|
Steroid-responsive anemia, Pure red cell aplasia |
OMIM:617911 |
Retinitis Pigmentosa 36 |
|
Macular degeneration, Attenuation of retinal blood vessels, Bone spicule pigmentation of the reti... |
OMIM:610599 |
Macular Degeneration, Age-Related, 13 |
|
Choroidal neovascularization, Macular degeneration, Macular scar, Drusen |
OMIM:615439 |
Hemoglobin D Disease |
|
Reduced beta/alpha synthesis ratio, Reduced hemoglobin A, Imbalanced hemoglobin synthesis, Spleno... |
ORPHA:90039 |
Delta-Beta-Thalassemia |
|
Anemia, Microcytic anemia, Abnormal hemoglobin |
ORPHA:231237 |
Retinitis Pigmentosa 48 |
|
Macular degeneration, Rod-cone dystrophy |
OMIM:613827 |
Diamond-Blackfan Anemia 19 |
|
Anemia, Erythroid hypoplasia, Steroid-responsive anemia |
OMIM:618312 |
Night Blindness, Congenital Stationary, Type 1D |
|
Pigmentary retinopathy, Attenuation of retinal blood vessels, Congenital stationary night blindne... |
OMIM:613830 |
Doyne Honeycomb Retinal Dystrophy |
|
Reticular pigmentary degeneration, Retinal dystrophy |
OMIM:126600 |
Anosmia For Isobutyric Acid |
|
Partial anosmia |
OMIM:207000 |
Anosmia For Butyl Mercaptan |
|
Anosmia |
OMIM:270350 |
Anosmia, Isolated Congenital, X-Linked |
|
Anosmia |
OMIM:301700 |
Anosmia, Isolated Congenital |
|
Anosmia |
OMIM:107200 |
Isovaleric Acid, Inability To Smell |
|
Anosmia |
OMIM:243450 |
Macular Dystrophy, Patterned, 3 |
|
Choroidal neovascularization, Rod-cone dystrophy, Macular atrophy |
OMIM:617111 |
Retinal Degeneration And Epilepsy |
|
Retinal degeneration |
OMIM:267740 |
Cone-Rod Dystrophy 7 |
|
Bull's eye maculopathy, Macular atrophy, Retinal flecks, Cone/cone-rod dystrophy |
OMIM:603649 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10 |
|
Cerebellar dysplasia, Retinal dysplasia, Neural tube defect |
OMIM:615041 |
Tricuspid Atresia |
|
Hypoplasia of right ventricle, Patent foramen ovale, Ventricular septal defect, Persistent left s... |
ORPHA:1209 |
Methemoglobinemia, Beta Type |
|
Methemoglobinemia |
OMIM:617971 |
Methemoglobinemia, Alpha Type |
|
Methemoglobinemia |
OMIM:617973 |
Atrophia Maculosa Varioliformis Cutis, Familial |
|
Macular atrophy |
OMIM:601341 |
Transient Erythroblastopenia Of Childhood |
|
Anemia, Transient erythroblastopenia |
OMIM:227050 |
Macular Degeneration, Age-Related, 6 |
|
Macular degeneration |
OMIM:613757 |
Macular Degeneration, Age-Related, 15 |
|
Macular degeneration |
OMIM:615591 |
Macular Degeneration, Age-Related, 11 |
|
Macular degeneration |
OMIM:611953 |
Macular Degeneration, Age-Related, 4 |
|
Macular degeneration |
OMIM:610698 |
Macular Degeneration, Age-Related, 7 |
|
Macular degeneration |
OMIM:610149 |
Macular Degeneration, Age-Related, 2 |
|
Macular degeneration |
OMIM:153800 |
Macular Degeneration, Early-Onset |
|
Choroidal neovascularization, Macular degeneration |
OMIM:616118 |
Female Infertility Due To Oocyte Meiotic Arrest |
|
Abnormal meiosis, Female infertility, Oocyte arrest at metaphase I |
ORPHA:488191 |
Macular Dystrophy, Retinal, 2 |
|
Granular macular appearance, Perifoveal ring of hyperautofluorescence, Macular dystrophy, Retinal... |
OMIM:608051 |
Hemoglobin C-Beta-Thalassemia Syndrome |
|
Anemia, Splenomegaly, Microcytic anemia, Abnormal hemoglobin |
ORPHA:231242 |
Stargardt Disease 4 |
|
Macular degeneration, Retinal flecks |
OMIM:603786 |
Oocyte/Zygote/Embryo Maturation Arrest 4 |
|
Oocyte arrest at metaphase I, Female infertility |
OMIM:617743 |
Oocyte/Zygote/Embryo Maturation Arrest 2 |
|
Oocyte arrest at metaphase I, Female infertility |
OMIM:616780 |
Exudative Vitreoretinopathy 7 |
|
Exudative vitreoretinopathy, Retinal degeneration, Retinal detachment, Retinal hole, Retinal fold |
OMIM:617572 |
Oocyte/Zygote/Embryo Maturation Arrest 14 |
|
Female infertility, Oocyte maturation arrest |
OMIM:620276 |
Oocyte/Zygote/Embryo Maturation Arrest 5 |
|
Female infertility, Lack of oocyte pronucleus formation |
OMIM:617996 |
Stargardt Disease 3 |
|
Macular atrophy, Macular dystrophy, Macular flecks |
OMIM:600110 |
Retinoschisis 1, X-Linked, Juvenile |
|
Mizuo phenomenon, Retinal degeneration, Vitreous hemorrhage, Retinal atrophy, Retinal detachment,... |
OMIM:312700 |
Heterotaxy, Visceral, 4, Autosomal |
|
Total anomalous pulmonary venous return, Pulmonary artery atresia, Bilateral superior vena cava, ... |
OMIM:613751 |
Macular Dystrophy, Retinal, 1, North Carolina Type |
|
Abnormality of macular pigmentation, Drusen, Macular dystrophy, Peripheral retinal atrophy |
OMIM:136550 |
Leber Congenital Amaurosis 19 |
|
Optic disc pallor, Attenuation of retinal blood vessels, Retinal degeneration |
OMIM:618513 |
Nephronophthisis 9 |
|
Nephronophthisis, Polydipsia, Stage 5 chronic kidney disease, Retinal degeneration, Polyuria, Ren... |
OMIM:613824 |
Retinitis Pigmentosa 31 |
|
Retinal pigment epithelial atrophy, Attenuation of retinal blood vessels, Rod-cone dystrophy |
OMIM:609923 |
Hemoglobin H Disease |
|
Splenomegaly, Reduced alpha/beta synthesis ratio, Hemolytic anemia, HbH hemoglobin |
OMIM:613978 |
Leber Congenital Amaurosis 13 |
|
Optic disc pallor, Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina,... |
OMIM:612712 |
Late-Onset Retinal Degeneration |
|
Choroidal neovascularization, Retinopathy, Retinal degeneration, Chorioretinal degeneration, Sub-... |
OMIM:605670 |
Macular Dystrophy, Vitelliform, 2 |
|
Cystoid macular degeneration, Macular dystrophy, Subretinal fluid |
OMIM:153700 |
Macular Degeneration, Atrophic, X-Linked |
|
Macular degeneration |
OMIM:300834 |
Musk, Inability To Smell |
|
Anosmia |
OMIM:254150 |
Retinopathy, Pericentral Pigmentary, Dominant |
|
Pigmentary retinopathy, Attenuation of retinal blood vessels, Retinopathy, Retinal atrophy, Bone ... |
OMIM:180210 |
Grouped Pigmentation Of The Retina |
|
Abnormality of retinal pigmentation |
OMIM:233800 |
Hyperleucine-Isoleucinemia |
|
Retinal degeneration |
OMIM:238340 |
Oocyte/Zygote/Embryo Maturation Arrest 9 |
|
Abnormality of the menstrual cycle, Oocyte arrest at metaphase I, Female infertility |
OMIM:619011 |
Nephronophthisis 16 |
|
Aortic valve stenosis, Periportal fibrosis, Nephronophthisis, Hypertrophic cardiomyopathy, Choles... |
OMIM:615382 |
X-Linked Retinal Dysplasia |
|
Retinal dysplasia, Abnormal retinal vascular morphology, Abnormality of retinal pigmentation |
ORPHA:1852 |
Oocyte/Zygote/Embryo Maturation Arrest 21 |
|
Female infertility |
OMIM:620610 |
Oocyte/Zygote/Embryo Maturation Arrest 13 |
|
Female infertility |
OMIM:620154 |
Sorsby Pseudoinflammatory Fundus Dystrophy |
|
Choroidal neovascularization, Pigmentary retinopathy, Abnormal fundus autofluorescence imaging, H... |
ORPHA:59181 |
Beta-Thalassemia, Dominant Inclusion Body Type |
|
Persistence of hemoglobin F, Microcytic anemia, Splenomegaly, Erythrocyte inclusion bodies, Incre... |
OMIM:603902 |
Ventricular Septal Defect 1 |
|
Tetralogy of Fallot, Atrioventricular canal defect, Ventricular septal defect, Atrial septal defe... |
OMIM:614429 |
Liberfarb Syndrome |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial mottling, ... |
OMIM:618889 |
Heterotaxy, Visceral, 6, Autosomal |
|
Hypoplastic left heart, Total anomalous pulmonary venous return, Unbalanced atrioventricular cana... |
OMIM:614779 |
Oocyte/Zygote/Embryo Maturation Arrest 12 |
|
Female infertility |
OMIM:619697 |
Cayler Cardiofacial Syndrome |
|
Tetralogy of Fallot, Patent ductus arteriosus, Ventricular septal defect |
OMIM:125520 |
Alpha-Thalassemia Myelodysplasia Syndrome |
|
Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia |
OMIM:300448 |
Right Atrial Isomerism |
|
Aortopulmonary collateral arteries, Total anomalous pulmonary venous return, Pulmonary artery atr... |
OMIM:208530 |
Leber Congenital Amaurosis 10 |
|
Hyposmia |
OMIM:611755 |
Cone-Rod Dystrophy 22 |
|
Hypoautofluorescent retinal lesion, Hyperautofluorescent macular lesion, Attenuation of retinal b... |
OMIM:619531 |
Retinal Cone Dystrophy 1 |
|
Retinal degeneration, Bull's eye maculopathy, Cone/cone-rod dystrophy |
OMIM:180020 |
Laterality Defects, Autosomal Dominant |
|
Asplenia, Situs inversus totalis, Heterotaxy |
OMIM:601086 |
Cleft Lip-Retinopathy Syndrome |
|
Retinopathy, Abnormality of retinal pigmentation |
ORPHA:1995 |
Retinitis Pigmentosa 32 |
|
Pigmentary retinopathy, Attenuation of retinal blood vessels, Retinal degeneration, Photoreceptor... |
OMIM:609913 |
Premature Ovarian Failure 19 |
|
Irregular menstruation, Premature ovarian insufficiency, Female infertility, Secondary amenorrhea |
OMIM:619245 |
Genitopalatocardiac Syndrome |
|
Micrognathia, Right aortic arch, Ventricular septal defect, Renal cyst, Transposition of the grea... |
OMIM:231060 |
Senior-Loken Syndrome 4 |
|
Nephronophthisis, Polydipsia, Stage 5 chronic kidney disease, Polyuria, Rod-cone dystrophy |
OMIM:606996 |
Congenital Heart Defects, Multiple Types, 6 |
|
Total anomalous pulmonary venous return, Secundum atrial septal defect, Hypoplastic pulmonary vei... |
OMIM:613854 |
Anemia, Sideroblastic, 4 |
|
Sideroblastic anemia, Abnormal erythrocyte morphology |
OMIM:182170 |
Retinitis Pigmentosa 33 |
|
Attenuation of retinal blood vessels, Optic disc pallor, Bone spicule pigmentation of the retina,... |
OMIM:610359 |
Alpha-Thalassemia |
|
Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia |
OMIM:604131 |
Beta-Thalassemia |
|
Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia |
OMIM:613985 |
Ceroid Lipofuscinosis, Neuronal, 6A |
|
Retinal degeneration |
OMIM:601780 |
Retinitis Pigmentosa 39 |
|
Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Rod-cone dystrophy |
OMIM:613809 |
Premature Ovarian Failure 2B |
|
Premature ovarian insufficiency, Female infertility, Delayed puberty, Primary amenorrhea |
OMIM:300604 |
Choroideremia |
|
Pigmentary retinopathy, Hypopigmentation of the fundus, Retinal pigment epithelial mottling, Numm... |
OMIM:303100 |
Bardet-Biedl Syndrome 13 |
|
Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Rod-cone dystrophy |
OMIM:615990 |
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome |
|
Anemia, Splenomegaly, Thrombocytopenia, Abnormal hemoglobin |
ORPHA:231393 |
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies |
|
Retinal degeneration |
OMIM:251700 |
Thumb Agenesis, Short Stature, And Immunodeficiency |
|
Anosmia |
OMIM:274190 |
Night Blindness, Congenital Stationary, Autosomal Dominant 1 |
|
Bone spicule pigmentation of the retina, Congenital stationary night blindness |
OMIM:610445 |
Cone-Rod Dystrophy 11 |
|
Macular degeneration, Cone/cone-rod dystrophy, Macular atrophy, Bull's eye maculopathy |
OMIM:610381 |
Central Areolar Choroidal Dystrophy |
|
Hypopigmentation of the fundus, Retinal pigment epithelial mottling, Hyperautofluorescent macular... |
ORPHA:75377 |
Spermatogenic Failure 17 |
|
Male infertility |
OMIM:617214 |
Retinitis Pigmentosa 70 |
|
Macular degeneration, Attenuation of retinal blood vessels, Retinal degeneration, Rod-cone dystro... |
OMIM:615922 |
Optic Atrophy 6 |
|
Optic atrophy, Retinal degeneration |
OMIM:258500 |
Heterotaxy, Visceral, 7, Autosomal |
|
Interrupted aortic arch, Total anomalous pulmonary venous return, Pulmonary artery hypoplasia, Pu... |
OMIM:616749 |
Hydatidiform Mole, Recurrent, 3 |
|
Female infertility |
OMIM:618431 |
Hydatidiform Mole, Recurrent, 4 |
|
Female infertility |
OMIM:618432 |
Retinitis Pigmentosa 81 |
|
Optic disc pallor, Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina,... |
OMIM:617871 |
Familial Drusen |
|
Peripapillary chorioretinal atrophy, Choroidal neovascularization, Subretinal fluid, Reticular pi... |
ORPHA:75376 |
Persistent Placoid Maculopathy |
|
Hypoplasia of the fovea, Choroidal neovascularization, Retinal pigment epithelial mottling, Abnor... |
ORPHA:97341 |
Leber Congenital Amaurosis With Early-Onset Deafness |
|
Peripapillary atrophy, Retinal pigment epithelial mottling, Retinal degeneration |
OMIM:617879 |
Oocyte/Zygote/Embryo Maturation Arrest 10 |
|
Female infertility |
OMIM:619176 |
Oocyte/Zygote/Embryo Maturation Arrest 11 |
|
Female infertility |
OMIM:619643 |
Oocyte/Zygote/Embryo Maturation Arrest 6 |
|
Female infertility |
OMIM:618353 |
Progesterone Resistance |
|
Female infertility |
OMIM:264080 |
Oocyte/Zygote/Embryo Maturation Arrest 15 |
|
Female infertility |
OMIM:616814 |
Oocyte/Zygote/Embryo Maturation Arrest 3 |
|
Female infertility |
OMIM:617712 |
Oocyte/Zygote/Embryo Maturation Arrest 7 |
|
Female infertility |
OMIM:618550 |
Oocyte/Zygote/Embryo Maturation Arrest 18 |
|
Female infertility |
OMIM:620332 |
Oocyte/Zygote/Embryo Maturation Arrest 19 |
|
Female infertility |
OMIM:620333 |
Oocyte/Zygote/Embryo Maturation Arrest 1 |
|
Female infertility |
OMIM:615774 |
Retinitis Pigmentosa 68 |
|
Retinal atrophy, Bone spicule pigmentation of the retina, Rod-cone dystrophy |
OMIM:615725 |
Polycystic Kidney Disease 5 |
|
Hyperechogenic kidneys, Hepatosplenomegaly, Stage 5 chronic kidney disease, Reduced renal cortico... |
OMIM:617610 |
Macular Degeneration, Age-Related, 1 |
|
Choroidal neovascularization, Macular degeneration, Foveal hypopigmentation, Macular hemorrhage, ... |
OMIM:603075 |
Stargardt Disease |
|
Abnormality of macular pigmentation, Macular degeneration, Retinal pigment epithelial mottling, R... |
ORPHA:827 |
Best Vitelliform Macular Dystrophy |
|
Cystoid macular degeneration, Choroideremia |
ORPHA:1243 |
Peripheral Cone Dystrophy |
|
Optic atrophy, Peripheral retinal degeneration, Optic disc pallor, Cone/cone-rod dystrophy |
OMIM:609021 |
Senior-Loken Syndrome 7 |
|
Retinal degeneration |
OMIM:613615 |
Bardet-Biedl Syndrome 10 |
|
Renal cyst, Renal insufficiency, Rod-cone dystrophy, Retinal dystrophy |
OMIM:615987 |
Nephronophthisis 14 |
|
Polycystic kidney dysplasia, Nephronophthisis, Situs inversus totalis |
OMIM:614844 |
Bothnia Retinal Dystrophy |
|
Pigmentary retinopathy, Macular degeneration, Retinal pigment epithelial mottling, Abnormal choro... |
ORPHA:85128 |
Nephronophthisis |
|
Abnormality of retinal pigmentation |
ORPHA:655 |
Homocarnosinosis |
|
Abnormality of retinal pigmentation, Abnormality of skin pigmentation |
OMIM:236130 |
Cone-Rod Dystrophy 5 |
|
Macular degeneration, Retinal pigment epithelial mottling, Cone/cone-rod dystrophy |
OMIM:600977 |
Spermatogenic Failure 35 |
|
Absent sperm axoneme central pair complex, Short sperm flagella, Absent sperm flagella, Male infe... |
OMIM:618341 |
Conotruncal Heart Malformations |
|
Complete atrioventricular canal defect, Truncus arteriosus, Coarctation of aorta, Transposition o... |
OMIM:217095 |
Charcot-Marie-Tooth Disease, Demyelinating, Type 1H |
|
Macular degeneration |
OMIM:619764 |
Apnea, Obstructive Sleep |
|
Anosmia |
OMIM:107650 |
Bothnia Retinal Dystrophy |
|
Macular degeneration, Retinal dystrophy |
OMIM:607475 |
Spermatogenic Failure 20 |
|
Absent sperm flagella, Short sperm flagella, Male infertility, Coiled sperm flagella |
OMIM:617593 |
Ciliary Dyskinesia, Primary, 52 |
|
Hypoplastic left heart, Total anomalous pulmonary venous return, Mitral atresia, Abdominal situs ... |
OMIM:620570 |
Retinitis Pigmentosa 30 |
|
Optic atrophy, Attenuation of retinal blood vessels, Chorioretinal atrophy, Bone spicule pigmenta... |
OMIM:607921 |
Porencephaly, Cerebellar Hypoplasia, And Internal Malformations |
|
Tetralogy of Fallot, Situs inversus totalis, Atrial septal defect |
OMIM:601322 |
Ciliary Dyskinesia, Primary, 53 |
|
Abdominal situs inversus, Polysplenia, Situs inversus totalis, Right aortic arch, Patent foramen ... |
OMIM:620642 |
16P13.11 Microduplication Syndrome |
|
Tetralogy of Fallot, Ventricular septal defect, Coarctation of aorta, Transposition of the great ... |
ORPHA:261243 |
Fallot Complex With Severe Mental And Growth Retardation |
|
Tetralogy of Fallot, Double outlet right ventricle, Pulmonic stenosis, Ventricular septal defect |
OMIM:601127 |
Retinitis Pigmentosa 11 |
|
Macular edema, Macular degeneration, Bone spicule pigmentation of the retina, Rod-cone dystrophy,... |
OMIM:600138 |
Retinitis Pigmentosa 57 |
|
Attenuation of retinal blood vessels, Cystoid macular edema, Bone spicule pigmentation of the ret... |
OMIM:613582 |
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
|
Anemia, Splenomegaly, Persistence of hemoglobin F |
ORPHA:46532 |
Retinitis Pigmentosa 47 |
|
Pigmentary retinopathy, Chorioretinal atrophy, Rod-cone dystrophy |
OMIM:613758 |
Hemoglobin E Disease |
|
Increased red blood cell count, Reduced hemoglobin A, Drug-sensitive hemolytic anemia, Splenomega... |
ORPHA:2133 |
Retinitis Pigmentosa 13 |
|
Attenuation of retinal blood vessels, Asteroid hyalosis, Cystoid macular edema, Retinal degenerat... |
OMIM:600059 |
Tn Polyagglutination Syndrome |
|
Abnormal erythrocyte morphology |
OMIM:300622 |
Usher Syndrome, Type Iv |
|
Hyperautofluorescent macular lesion, Bone spicule pigmentation of the retina, Retinal atrophy, Re... |
OMIM:618144 |
Heterotaxy, Visceral, 2, Autosomal |
|
Bilateral superior vena cava, Left atrial isomerism, Abdominal situs inversus, Atrioventricular c... |
OMIM:605376 |
Muscular Atrophy-Ataxia-Retinitis Pigmentosa-Diabetes Mellitus Syndrome |
|
Abnormality of retinal pigmentation |
ORPHA:2579 |
Spermatogenic Failure 72 |
|
Absent sperm axoneme central pair complex, Irregularly shaped sperm tail, Reduced progressive spe... |
OMIM:619867 |
Spermatogenic Failure 34 |
|
Absent sperm axoneme central pair complex, Irregularly shaped sperm tail, Short sperm flagella, A... |
OMIM:618153 |
Spermatogenic Failure, X-Linked, 5 |
|
Irregularly shaped sperm tail, Reduced progressive sperm motility, Short sperm flagella, Absent s... |
OMIM:301099 |
Meacham Syndrome |
|
Hypoplastic left heart, Accessory spleen, Tetralogy of Fallot, Horseshoe kidney, Scimitar anomaly... |
OMIM:608978 |
Nanophthalmos |
|
Abnormality of retinal pigmentation, Abnormal choroid morphology |
ORPHA:35612 |
Oocyte/Zygote/Embryo Maturation Arrest 8 |
|
Abnormality of the menstrual cycle, Female infertility |
OMIM:619009 |
Spermatogenic Failure 46 |
|
Irregularly shaped sperm tail, Short sperm flagella, Absent sperm flagella, Reduced sperm motilit... |
OMIM:619095 |
Spermatogenic Failure 33 |
|
Irregularly shaped sperm tail, Short sperm flagella, Absent sperm flagella, Reduced sperm motilit... |
OMIM:618152 |
Spermatogenic Failure 37 |
|
Irregularly shaped sperm tail, Short sperm flagella, Absent sperm flagella, Reduced sperm motilit... |
OMIM:618429 |
Spermatogenic Failure 18 |
|
Irregularly shaped sperm tail, Short sperm flagella, Absent sperm flagella, Reduced sperm motilit... |
OMIM:617576 |
Spermatogenic Failure 27 |
|
Absent sperm axoneme central pair complex, Short sperm flagella, Absent sperm flagella, Reduced s... |
OMIM:617965 |
Retinitis Pigmentosa 4 |
|
Pigmentary retinopathy, Attenuation of retinal blood vessels, Retinal atrophy, Bone spicule pigme... |
OMIM:613731 |
Wagner Vitreoretinopathy |
|
Peripheral tractional retinal detachment, Optic atrophy, Exudative vitreoretinopathy, Vitreoretin... |
OMIM:143200 |
Heterotaxy, Visceral, 12, Autosomal |
|
Ventricular septal defect, Discordant atrioventricular connection, Single coronary artery origin,... |
OMIM:619702 |
Hypogonadotropic Hypogonadism 20 With Or Without Anosmia |
|
Anosmia |
OMIM:615270 |
Spermatogenic Failure 43 |
|
Absent sperm axoneme central pair complex, Absent sperm flagella, Reduced sperm motility, Male in... |
OMIM:618751 |
Spermatogenic Failure 49 |
|
Short sperm flagella, Absent sperm flagella, Reduced sperm motility, Male infertility, Coiled spe... |
OMIM:619144 |
Spermatogenic Failure 45 |
|
Short sperm flagella, Absent sperm flagella, Reduced sperm motility, Male infertility, Coiled spe... |
OMIM:619094 |
Spermatogenic Failure 19 |
|
Short sperm flagella, Absent sperm flagella, Reduced sperm motility, Male infertility, Coiled spe... |
OMIM:617592 |
Spermatogenic Failure 82 |
|
Reduced progressive sperm motility, Short sperm flagella, Absent sperm flagella, Male infertility... |
OMIM:620353 |
Transposition Of The Great Arteries, Dextro-Looped |
|
Transposition of the great arteries |
OMIM:608808 |
Bestrophinopathy, Autosomal Recessive |
|
Retinal pigment epithelial atrophy, Retinal flecks |
OMIM:611809 |
Spermatogenic Failure 83 |
|
Altered location of the longitudinal column in the fibrous sheath, Reduced progressive sperm moti... |
OMIM:620354 |
Heinz Body Anemias |
|
Heinz bodies, Nonspherocytic hemolytic anemia, Heinz body anemia |
OMIM:140700 |
Hypogonadotropic Hypogonadism 14 With Or Without Anosmia |
|
Anosmia |
OMIM:614858 |
Congenital Heart Defects, Multiple Types, 4 |
|
Aortic valve stenosis, Hypoplastic left heart, Tetralogy of Fallot, Atrioventricular canal defect... |
OMIM:615779 |
Retinitis Pigmentosa 90 |
|
Attenuation of retinal blood vessels, Cystoid macular edema, Bone spicule pigmentation of the ret... |
OMIM:619007 |
Spermatogenic Failure 3 |
|
Male infertility, Reduced sperm motility |
OMIM:606766 |
Spermatogenic Failure, Y-Linked, 1 |
|
Male infertility, Reduced sperm motility |
OMIM:400042 |
Spermatogenic Failure 55 |
|
Male infertility, Reduced sperm motility |
OMIM:619380 |
Spinocerebellar Ataxia, Autosomal Recessive 12 |
|
Cerebellar vermis atrophy, Optic atrophy, Cerebellar atrophy, Retinal degeneration |
OMIM:614322 |
Hypogonadotropic Hypogonadism 17 With Or Without Anosmia |
|
Hyposmia |
OMIM:615266 |
Progressive Bifocal Chorioretinal Atrophy |
|
Chorioretinal dystrophy, Pigmentary retinopathy, Macular atrophy |
ORPHA:75373 |
Retinitis Pigmentosa 54 |
|
Rod-cone dystrophy, Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina... |
OMIM:613428 |
Hyperprolactinemia |
|
Oligomenorrhea, Female infertility, Menorrhagia |
OMIM:615555 |
Oocyte/Zygote/Embryo Maturation Arrest 17 |
|
Amenorrhea, Female infertility |
OMIM:620319 |
Oocyte/Zygote/Embryo Maturation Arrest 20 |
|
Amenorrhea, Female infertility |
OMIM:620383 |
Retinitis Pigmentosa 38 |
|
Optic disc pallor, Rod-cone dystrophy, Peripheral retinal atrophy, Macular atrophy |
OMIM:613862 |
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome |
|
Optic atrophy, Abnormality of retinal pigmentation |
ORPHA:1574 |
Spermatogenic Failure 84 |
|
Irregularly shaped sperm tail, Reduced progressive sperm motility, Short sperm flagella, Bent spe... |
OMIM:620409 |
Atrial Septal Defect 4 |
|
Coarctation of aorta, Atrial septal defect, Patent foramen ovale |
OMIM:611363 |
Spermatogenic Failure 65 |
|
Irregularly shaped sperm tail, Reduced progressive sperm motility, Abnormal sperm mid-piece morph... |
OMIM:619712 |
Retinitis Pigmentosa 96 |
|
Bone spicule pigmentation of the retina, Rod-cone dystrophy, Retinal thinning |
OMIM:620228 |
Congenital Heart Defects, Multiple Types, 5 |
|
Aortic valve stenosis, Dilated cardiomyopathy, Tetralogy of Fallot, Ventricular septal defect, Bi... |
OMIM:617912 |
Spermatogenic Failure 56 |
|
Irregularly shaped sperm tail, Reduced progressive sperm motility, Short sperm flagella, Absent s... |
OMIM:619515 |
Hypoglossia With Situs Inversus |
|
Asplenia, Micrognathia, Situs inversus totalis, Polysplenia |
OMIM:612776 |
Retinitis Pigmentosa 88 |
|
Macular degeneration, Attenuation of retinal blood vessels, Cystoid macular edema, Bone spicule p... |
OMIM:618826 |
Renal-Hepatic-Pancreatic Dysplasia 1 |
|
Aortic valve stenosis, Cholestasis, Cirrhosis, Atrial septal defect, Hepatomegaly, Polycystic kid... |
OMIM:208540 |
Progressive Cone Dystrophy |
|
Abnormality of retinal pigmentation |
ORPHA:1871 |
Spermatogenic Failure, X-Linked, 3 |
|
Reduced sperm motility, Irregularly shaped sperm tail, Short sperm flagella, Oligozoospermia, Abs... |
OMIM:301059 |
Hypotrichosis, Congenital, With Juvenile Macular Dystrophy |
|
Subretinal deposits, Macular degeneration, Choriocapillaris atrophy |
OMIM:601553 |
Spermatogenic Failure 40 |
|
Immotile sperm, Short sperm flagella, Absent sperm flagella, Oligozoospermia, Male infertility, C... |
OMIM:618664 |
Spermatogenic Failure 62 |
|
Non-obstructive azoospermia, Male infertility, Spermatocyte maturation arrest |
OMIM:619673 |
Spermatogenic Failure 61 |
|
Non-obstructive azoospermia, Male infertility, Spermatocyte maturation arrest |
OMIM:619672 |
Spermatogenic Failure 88 |
|
Non-obstructive azoospermia, Male infertility, Spermatocyte maturation arrest |
OMIM:620547 |
Chondrodysplasia Punctata 1, X-Linked Recessive |
|
Depressed nasal bridge, Anosmia, Short nasal septum, Short nose |
OMIM:302950 |
Pulmonary Atresia With Ventricular Septal Defect |
|
Pulmonary artery atresia, Ventricular septal defect |
OMIM:178370 |
Diamond-Blackfan Anemia 16 |
|
Anemia, Atrial septal defect, Pulmonic stenosis |
OMIM:617408 |
Spermatogenic Failure 80 |
|
Reduced progressive sperm motility, Short sperm flagella, Absent sperm flagella, Oligozoospermia,... |
OMIM:620222 |
Spermatogenic Failure 76 |
|
Irregularly shaped sperm tail, Short sperm flagella, Oligozoospermia, Reduced sperm motility, Abs... |
OMIM:620084 |
Bardet-Biedl Syndrome 17 |
|
Polydipsia, Stage 5 chronic kidney disease, Retinal degeneration, Cone/cone-rod dystrophy, Renal ... |
OMIM:615994 |
Spermatogenic Failure 58 |
|
Irregularly shaped sperm tail, Reduced progressive sperm motility, Immotile sperm, Short sperm fl... |
OMIM:619585 |
Spermatogenic Failure 59 |
|
Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility |
OMIM:619645 |
Spermatogenic Failure 60 |
|
Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility |
OMIM:619646 |
Spermatogenic Failure 74 |
|
Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility |
OMIM:619937 |
Spermatogenic Failure 73 |
|
Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility |
OMIM:619878 |
Spermatogenic Failure 47 |
|
Immotile sperm, Short sperm flagella, Absent sperm flagella, Oligozoospermia, Male infertility |
OMIM:619102 |
Retinitis Pigmentosa 95 |
|
Optic disc pallor, Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina,... |
OMIM:620102 |
Retinitis Pigmentosa 61 |
|
Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Rod-cone dystrophy |
OMIM:614180 |
Hypogonadotropic Hypogonadism 5 With Or Without Anosmia |
|
Anosmia |
OMIM:612370 |
Ataxia-Tapetoretinal Degeneration Syndrome |
|
Pigmentary retinopathy, Rod-cone dystrophy |
ORPHA:1178 |
Nephronophthisis 11 |
|
Tubular basement membrane disintegration, Nephronophthisis, Polydipsia, Stage 5 chronic kidney di... |
OMIM:613550 |
Retinitis Pigmentosa 62 |
|
Attenuation of retinal blood vessels, Bull's eye maculopathy, Bone spicule pigmentation of the re... |
OMIM:614181 |
Spermatogenic Failure 36 |
|
Abnormal sperm morphology, Male infertility |
OMIM:618420 |
Bardet-Biedl Syndrome 16 |
|
Renal agenesis, Stage 5 chronic kidney disease, Renal insufficiency, Retinal degeneration, Renal ... |
OMIM:615993 |
Hypogonadotropic Hypogonadism 9 With Or Without Anosmia |
|
Bifid nose, Anosmia, Hyposmia |
OMIM:614838 |
Ventricular Septal Defect 3 |
|
Pulmonary artery stenosis, Patent ductus arteriosus, Atrial septal defect, Ventricular septal defect |
OMIM:614432 |
Retinitis Pigmentosa 40 |
|
Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Rod-cone dystrophy |
OMIM:613801 |
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma |
|
Cystoid macular degeneration, Retinal degeneration, Macular atrophy |
OMIM:267760 |
Cone-Rod Dystrophy 13 |
|
Macular degeneration, Cone/cone-rod dystrophy |
OMIM:608194 |
Spermatogenic Failure 79 |
|
Reduced sperm motility, Coiled sperm flagella, Male infertility, Oligozoospermia |
OMIM:620196 |
Retinitis Pigmentosa 9 |
|
Macular edema, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Macular atrophy |
OMIM:180104 |
Retinitis Pigmentosa 19 |
|
Attenuation of retinal blood vessels, Optic disc pallor, Bone spicule pigmentation of the retina,... |
OMIM:601718 |
Spermatogenic Failure 7 |
|
Immotile sperm, Reduced sperm motility, Male infertility, Oligozoospermia |
OMIM:612997 |
Cone-Rod Dystrophy 24 |
|
Pigmentary retinopathy, Macular degeneration, Attenuation of retinal blood vessels, Cone/cone-rod... |
OMIM:620342 |
RCAD (renal cysts and diabetes) |
|
Abnormality of the liver, Multiple renal cysts |
DECIPHER:47 |
Heterotaxy, Visceral, 1, X-Linked |
|
Ventricular septal defect, Atrial septal defect, Dextrocardia, Single ventricle, Left superior ve... |
OMIM:306955 |
Cerebellar Hypoplasia-Tapetoretinal Degeneration Syndrome |
|
Optic atrophy, Abnormality of retinal pigmentation |
ORPHA:2246 |
Spermatogenic Failure 10 |
|
Abnormal sperm morphology, Reduced sperm motility, Male infertility, Oligozoospermia |
OMIM:614822 |
Spermatogenic Failure 11 |
|
Male infertility, Abnormal sperm morphology, Oligozoospermia, Reduced sperm motility |
OMIM:615081 |
Hypogonadotropic Hypogonadism 18 With Or Without Anosmia |
|
Anosmia |
OMIM:615267 |
Spermatogenic Failure 42 |
|
Microcephalic sperm head, Tapered sperm head, Short sperm flagella, Absent sperm flagella, Reduce... |
OMIM:618745 |
Retinitis Pigmentosa 73 |
|
Epiretinal membrane, Peripapillary atrophy, Retinal atrophy, Bone spicule pigmentation of the ret... |
OMIM:616544 |
Spermatogenic Failure 39 |
|
Tapered sperm head, Short sperm flagella, Oligozoospermia, Reduced sperm motility, Absent sperm f... |
OMIM:618643 |
Spermatogenic Failure 54 |
|
Abnormal sperm axoneme morphology, Cryptozoospermia, Tapered sperm head, Short sperm flagella, Ol... |
OMIM:619379 |
Spermatogenic Failure 78 |
|
Microcephalic sperm head, Tapered sperm head, Male infertility |
OMIM:620170 |
Adenylate Kinase Deficiency, Hemolytic Anemia Due To |
|
Hemolytic anemia, Reduced erythrocyte adenylate kinase activity |
OMIM:612631 |
Retinitis Pigmentosa 76 |
|
Retinal thinning, Hyperautofluorescent macular lesion, Peripapillary atrophy, Cystoid macular ede... |
OMIM:617123 |
Cyanosis, Transient Neonatal |
|
Anemia, Methemoglobinemia, Reticulocytosis |
OMIM:613977 |
Ophthalmoplegia, External, And Myopia |
|
Chorioretinal degeneration, Retinal degeneration |
OMIM:311000 |
Spermatogenic Failure 1 |
|
Cryptozoospermia, Male infertility, Oligozoospermia |
OMIM:258150 |
Retinitis Pigmentosa 80 |
|
Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Macular atrophy |
OMIM:617781 |
Nephronophthisis-Like Nephropathy 2 |
|
Polydipsia, Stage 5 chronic kidney disease, Renal insufficiency, Polyuria, Tubular luminal dilata... |
OMIM:619468 |
Spermatogenic Failure 41 |
|
Tapered sperm head, Immotile sperm, Short sperm flagella, Oligozoospermia, Male infertility |
OMIM:618670 |
Retinitis Pigmentosa 84 |
|
Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Rod-cone dystrophy... |
OMIM:618220 |
Ceroid Lipofuscinosis, Neuronal, 2 |
|
Retinal degeneration |
OMIM:204500 |
Retinitis Pigmentosa 27 |
|
Peripapillary chorioretinal atrophy, Macular edema, Attenuation of retinal blood vessels, Chorior... |
OMIM:613750 |
Blue Cone Monochromatism |
|
Abnormality of retinal pigmentation |
ORPHA:16 |
Male Infertility Due To Acephalic Spermatozoa |
|
Acephalic spermatozoa, Abnormal sperm mid-piece morphology, Oligozoospermia, Reduced sperm motili... |
ORPHA:529970 |
Pigmented Paravenous Chorioretinal Atrophy |
|
Bone spicule pigmentation of the retina, Vitreoretinopathy, Paravenous chorioretinal atrophy |
OMIM:172870 |
Macular Dystrophy, Vitelliform, 3 |
|
Vitelliform-like macular lesions, Choroidal neovascularization, Macular dystrophy, Drusen, Macula... |
OMIM:608161 |
Spermatogenic Failure 48 |
|
Spermatogenesis maturation arrest, Azoospermia, Oligozoospermia, Male infertility |
OMIM:619108 |
Retinitis Pigmentosa 87 With Choroidal Involvement |
|
Pigmentary retinopathy, Nummular pigmentation of the fundus, Chorioretinal atrophy, Bone spicule ... |
OMIM:618697 |
Cone Dystrophy 3 |
|
Macular atrophy, Cone/cone-rod dystrophy |
OMIM:602093 |
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3 |
|
Hypoplastic left heart, Unilateral renal agenesis, Bilateral renal agenesis, Anomalous origin of ... |
OMIM:618845 |
Spermatogenic Failure 29 |
|
Non-obstructive azoospermia, Immotile sperm, Male infertility |
OMIM:618091 |
Diamond-Blackfan Anemia 3 |
|
Increased mean corpuscular volume, Elevated red cell adenosine deaminase activity, Persistence of... |
OMIM:610629 |
Intellectual Developmental Disorder And Retinitis Pigmentosa |
|
Macular degeneration, Attenuation of retinal blood vessels, Peripapillary atrophy, Bone spicule p... |
OMIM:618195 |
Spermatogenic Failure 5 |
|
Multiflagellar spermatozoa, Macrozoospermia, Male infertility |
OMIM:243060 |
Bardet-Biedl Syndrome 9 |
|
Polydipsia, Attenuation of retinal blood vessels, Renal insufficiency, Retinal degeneration, Poly... |
OMIM:615986 |
Retinitis Pigmentosa 7 |
|
Pigmentary retinopathy, Attenuation of retinal blood vessels, Chorioretinal atrophy, Rod-cone dys... |
OMIM:608133 |
Oculorenocerebellar Syndrome |
|
Retinal degeneration |
OMIM:257970 |
Retinal Dystrophy And Obesity |
|
Attenuation of retinal blood vessels, Retinal dots, Peripapillary atrophy, Retinal detachment, Re... |
OMIM:616188 |
Spermatogenic Failure 21 |
|
Acephalic spermatozoa, Male infertility, Reduced sperm motility |
OMIM:617644 |
Spermatogenic Failure 16 |
|
Acephalic spermatozoa, Male infertility, Reduced sperm motility |
OMIM:617187 |
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency |
|
Pigmentary retinopathy |
OMIM:609016 |
Cone-Rod Dystrophy 16 |
|
Attenuation of retinal blood vessels, Cone/cone-rod dystrophy, Beaten bronze macular sheen, Bone ... |
OMIM:614500 |
X-Linked Neurodegenerative Syndrome, Bertini Type |
|
Macular degeneration |
ORPHA:85334 |
Spermatogenic Failure 22 |
|
Cryptozoospermia, Non-obstructive azoospermia, Male infertility |
OMIM:617706 |
Hypogonadotropic Hypogonadism 21 With Or Without Anosmia |
|
Hyposmia |
OMIM:615271 |
Retinitis Pigmentosa 28 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy |
OMIM:606068 |
Senior-Loken Syndrome 1 |
|
Nephronophthisis, Polydipsia, Stage 5 chronic kidney disease, Renal insufficiency, Impaired renal... |
OMIM:266900 |
Poretti-Boltshauser Syndrome |
|
Cerebellar vermis hypoplasia, Retinal thinning, Cerebellar dysplasia, Dilated fourth ventricle, R... |
OMIM:615960 |
Morm Syndrome |
|
Retinal atrophy, Retinal dystrophy |
ORPHA:75858 |
Spermatogenic Failure 53 |
|
Tapered sperm head, Male infertility |
OMIM:619258 |
Spermatogenic Failure 87 |
|
Ruffled acrosome, Male infertility |
OMIM:620500 |
Spermatogenic Failure 31 |
|
Acephalic spermatozoa, Male infertility |
OMIM:618112 |
Spermatogenic Failure 26 |
|
Acephalic spermatozoa, Male infertility |
OMIM:617961 |
Hypogonadotropic Hypogonadism 27 Without Anosmia |
|
Anosmia |
OMIM:619755 |
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm |
|
Abnormal sperm morphology, Immotile sperm, Male infertility |
OMIM:608653 |
Spermatogenic Failure 25 |
|
Cryptozoospermia, Non-obstructive azoospermia, Male infertility, Spermatocyte maturation arrest |
OMIM:617960 |
Nystagmus 6, Congenital, X-Linked |
|
Hypopigmentation of the fundus, Retinal pigment epithelial mottling |
OMIM:300814 |
Spermatogenic Failure 57 |
|
Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility |
OMIM:619528 |
Hanac Syndrome |
|
Hematuria, Multiple renal cysts, Renal insufficiency, Retinal vascular tortuosity |
ORPHA:73229 |
Retinitis Pigmentosa 17 |
|
Bone spicule pigmentation of the retina, Rod-cone dystrophy |
OMIM:600852 |
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility |
|
Asplenia, Situs inversus totalis, Dextrocardia |
OMIM:618948 |
Body Mass Index Quantitative Trait Locus 19 |
|
Anosmia, Hyposmia |
OMIM:617885 |
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy |
|
Asplenia, Unbalanced atrioventricular canal defect, Thoracic aortic aneurysm, Dextrotransposition... |
OMIM:619657 |
Peroxisome Biogenesis Disorder 3A (Zellweger) |
|
Hepatomegaly, Polycystic kidney dysplasia, Vascular dilatation |
OMIM:614859 |
Spermatogenic Failure 70 |
|
Azoospermia, Reduced sperm motility, Male infertility, Oligozoospermia |
OMIM:619828 |
Polycystic Kidney Disease 1 With Or Without Polycystic Liver Disease |
|
Renal insufficiency, Hepatic cysts, Cerebral berry aneurysm, Mitral valve prolapse, Polycystic ki... |
OMIM:173900 |
Spermatogenic Failure 64 |
|
Abnormal sperm head morphology, Reduced progressive sperm motility, Male infertility, Oligozoospe... |
OMIM:619696 |
Congenitally Uncorrected Transposition Of The Great Arteries |
|
Interrupted aortic arch, Abnormal aortic arch morphology, Abnormal coronary artery morphology, Bi... |
ORPHA:860 |
Lodder-Merla Syndrome, Type 1, With Impaired Intellectual Development And Cardiac Arrhythmia |
|
Retinal degeneration |
OMIM:617173 |
Spermatogenic Failure 86 |
|
Acephalic spermatozoa, Acrosomal hypoplasia, Abnormal sperm head morphology, Ruffled acrosome, Ma... |
OMIM:620499 |
Microphthalmia, Isolated 5 |
|
Foveoschisis, Cystoid macular edema, Optic disc drusen, Optic disc pallor, Bone spicule pigmentat... |
OMIM:611040 |
Exudative Vitreoretinopathy 3 |
|
Retinal exudate, Exudative vitreoretinopathy, Retinal detachment, Retinal hole, Retinal fold |
OMIM:605750 |
Spermatogenic Failure 63 |
|
Reduced progressive sperm motility, Male infertility, Oligozoospermia |
OMIM:619689 |
Primary Ciliary Dyskinesia |
|
Polysplenia, Atrial situs ambiguous, Abnormal heart morphology, Abnormal atrial arrangement, Abno... |
ORPHA:244 |
Vitreoretinopathy With Phalangeal Epiphyseal Dysplasia |
|
Lattice retinal degeneration, Rhegmatogenous retinal detachment |
OMIM:619248 |
Central Retinal Vein Occlusion |
|
Pigmentary retinopathy, Macular degeneration, Macular edema, Retinal vascular tortuosity, Epireti... |
ORPHA:411527 |
Neuropathy, Ataxia, And Retinitis Pigmentosa |
|
Retinopathy, Retinal pigment epithelial mottling, Rod-cone dystrophy |
OMIM:551500 |
Retinitis Pigmentosa 69 |
|
Pigmentary retinopathy, Perifoveal hypoautofluorescence, Rod-cone dystrophy |
OMIM:615780 |
Congenital Heart Defects, Multiple Types, 9 |
|
Hypoplastic left heart, Aortopulmonary collateral arteries, Unbalanced atrioventricular canal def... |
OMIM:620294 |
Congenital Amegakaryocytic Thrombocytopenia |
|
Anemia, Abnormal hemoglobin, Thrombocytopenia |
ORPHA:3319 |
Bietti Crystalline Dystrophy |
|
Pigmentary retinopathy, Retinal pigment epithelial mottling, Retinal thinning, Choriocapillaris a... |
ORPHA:41751 |
Cardiac-Urogenital Syndrome |
|
Biventricular hypertrophy, Ventricular septal defect, Atrial septal defect, Dextrocardia, Patent ... |
OMIM:618280 |
Spermatogenic Failure 52 |
|
Azoospermia, Male infertility |
OMIM:619202 |
Spermatogenic Failure 23 |
|
Azoospermia, Male infertility |
OMIM:617707 |
Cone-Rod Dystrophy, X-Linked, 1 |
|
Retinal pigment epithelial atrophy, Hypoautofluorescent macular lesion, Retinal pigment epithelia... |
OMIM:304020 |
Spermatogenic Failure 4 |
|
Azoospermia, Male infertility |
OMIM:270960 |
Spermatogenic Failure, Y-Linked, 2 |
|
Azoospermia, Male infertility |
OMIM:415000 |
Retinitis Pigmentosa 86 |
|
Nummular pigmentation of the fundus, Attenuation of retinal blood vessels, Cystoid macular edema,... |
OMIM:618613 |
Oliver-Mcfarlane Syndrome |
|
Pigmentary retinopathy, Central heterochromia, Retinal degeneration |
OMIM:275400 |
Cone Rod Dystrophy |
|
Abnormality of retinal pigmentation |
ORPHA:1872 |
Spermatogenic Failure 50 |
|
Spermatogenesis maturation arrest, Azoospermia, Male infertility |
OMIM:619145 |
Hepatorenocardiac Degenerative Fibrosis |
|
Hepatic bridging fibrosis, Hyperechogenic kidneys, Hypertrophic cardiomyopathy, Hepatosplenomegal... |
OMIM:619902 |
Renal Hypoplasia |
|
Chronic kidney disease, Unilateral renal agenesis, Polydipsia, Glomerulomegaly, Recurrent urinary... |
ORPHA:93101 |
Polycystic Kidney Disease 7 |
|
Stage 5 chronic kidney disease, Renal atrophy, Renal insufficiency, Renal interstitial fibrosis, ... |
OMIM:620056 |
Aural Atresia, Congenital |
|
Hyposmia |
OMIM:607842 |
Distal 7Q11.23 Microdeletion Syndrome |
|
Patent ductus arteriosus, Atrial septal defect |
ORPHA:254351 |
Spermatogenic Failure 32 |
|
Non-obstructive azoospermia, Male infertility |
OMIM:618115 |
Spermatogenic Failure 71 |
|
Non-obstructive azoospermia, Male infertility |
OMIM:619831 |
Hypogonadotropic Hypogonadism 6 With Or Without Anosmia |
|
Anosmia, Hyposmia |
OMIM:612702 |
Partial Atrioventricular Septal Defect |
|
Aortic valve stenosis, Hypoplastic left heart, Bacterial endocarditis, Coronary sinus enlargement... |
ORPHA:1330 |
Megabladder, Congenital |
|
Left ventricular noncompaction cardiomyopathy, Ventricular septal defect, Bicuspid aortic valve, ... |
OMIM:618719 |
Hypogonadotropic Hypogonadism 4 With Or Without Anosmia |
|
Anosmia, Hyposmia |
OMIM:610628 |
Spermatogenic Failure 30 |
|
Spermatogenesis maturation arrest, Cryptozoospermia, Azoospermia, Male infertility |
OMIM:618110 |
Retinitis Pigmentosa 79 |
|
Optic disc pallor, Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina,... |
OMIM:617460 |
Nephronophthisis 3 |
|
Nephronophthisis, Polydipsia, Stage 5 chronic kidney disease, Renal insufficiency, Proteinuria, R... |
OMIM:604387 |
Macular Degeneration, Age-Related, 3 |
|
Decreased nerve conduction velocity, Choroidal neovascularization, Macular degeneration, Drusen |
OMIM:608895 |
Asherman Syndrome |
|
Abnormality of the menstrual cycle, Metrorrhagia, Dysmenorrhea, Decreased fertility in females, O... |
ORPHA:137686 |
Achromatopsia |
|
Inner retinal layer loss on macular OCT, Retinal pigment epithelial mottling, Abnormal macular mo... |
ORPHA:49382 |
Spondylometaphyseal Dysplasia, Axial |
|
Optic atrophy, Rhizomelia, Cone/cone-rod dystrophy, Retinal degeneration, Disproportionate short-... |
OMIM:602271 |
Campomelia, Cumming Type |
|
Pancreatic cysts, Polycystic kidney dysplasia, Polycystic liver disease, Polysplenia |
OMIM:211890 |
Renal Glucosuria |
|
Enuresis nocturna, Polydipsia, Glycosuria, Polyphagia, Polyuria |
OMIM:233100 |
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease |
|
Recurrent urinary tract infections, Stage 5 chronic kidney disease, Situs inversus totalis, Renal... |
OMIM:613095 |
Deafness-Infertility Syndrome |
|
Reduced sperm motility, Abnormal sperm head morphology, Abnormal spermatogenesis, Male infertilit... |
OMIM:611102 |
Retinitis Pigmentosa 77 |
|
Attenuation of retinal blood vessels, Cystoid macular edema, Retinal atrophy, Bone spicule pigmen... |
OMIM:617304 |
Ceroid Lipofuscinosis, Neuronal, 3 |
|
Optic atrophy, Macular degeneration, Abnormal cerebellum morphology, Retinal degeneration, Rod-co... |
OMIM:204200 |
Achromatopsia 7 |
|
Hypoplasia of the fovea, Absent foveal reflex, Macular atrophy |
OMIM:616517 |
Retinal Dystrophy, Juvenile Cataracts, And Short Stature Syndrome |
|
Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Rod-cone dystrophy... |
OMIM:616108 |
Myopia, High, With Cataract And Vitreoretinal Degeneration |
|
Lattice retinal degeneration, Retinal detachment, Vitreous floaters, Peripheral vitreoretinal deg... |
OMIM:614292 |
Nephronophthisis 1 |
|
Tubular basement membrane disintegration, Nephronophthisis, Polydipsia, Stage 5 chronic kidney di... |
OMIM:256100 |
Bardet-Biedl Syndrome 4 |
|
Renal cyst, Abnormality of the kidney, Rod-cone dystrophy, Retinal degeneration |
OMIM:615982 |
Ciliary Dyskinesia, Primary, 14 |
|
Polysplenia, Chronic sinusitis, Situs inversus totalis, Heterotaxy |
OMIM:613807 |
Indomethacin Embryofetopathy |
|
Nephropathy, Multicystic kidney dysplasia, Cardiomyopathy, Renal insufficiency, Ventricular septa... |
ORPHA:1909 |
Microphthalmia, Syndromic 9 |
|
Hypoplastic left atrium, Right aortic arch with mirror image branching, Renal hypoplasia, Renal m... |
OMIM:601186 |
Cone-Rod Dystrophy 15 |
|
Retinal pigment epithelial atrophy, Attenuation of retinal blood vessels, Rod-cone dystrophy |
OMIM:613660 |
White Forelock With Malformations |
|
Atrial septal defect, Prominent veins on trunk |
OMIM:277740 |
Nephronophthisis 15 |
|
Cerebellar vermis hypoplasia, Retinal degeneration |
OMIM:614845 |
Ceroid Lipofuscinosis, Neuronal, 7 |
|
Optic atrophy, Pigmentary retinopathy, Retinopathy |
OMIM:610951 |
Fundus Dystrophy, Pseudoinflammatory, Recessive Form |
|
Central retinal exudate, Peripheral retinal degeneration, Retinal hemorrhage |
OMIM:264420 |
Nephronophthisis 4 |
|
Nephronophthisis, Polydipsia, Stage 5 chronic kidney disease, Renal corticomedullary cysts, Tubul... |
OMIM:606966 |
Atrial Septal Defect 2 |
|
Atrioventricular canal defect, Ventricular septal defect, Atrial septal defect, Dextrocardia, Pat... |
OMIM:607941 |
Premature Ovarian Failure 22 |
|
Premature ovarian insufficiency, Female infertility, Secondary amenorrhea |
OMIM:620548 |
Partial Chromosome Y Deletion |
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Male infertility, Non-obstructive azoospermia, Oligozoospermia, Abnormal spermatogenesis |
ORPHA:1646 |
Meckel Syndrome 13 |
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Micrognathia, Polycystic kidney dysplasia |
OMIM:617562 |
Heterotaxy, Visceral, 8, Autosomal |
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Hypoplastic left heart, Aortopulmonary collateral arteries, Unbalanced atrioventricular canal def... |
OMIM:617205 |
Retinitis Pigmentosa 6 |
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Pigmentary retinopathy, Chorioretinal degeneration, Rod-cone dystrophy |
OMIM:312612 |
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1 |
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Abnormality of retinal pigmentation, Optic disc pallor, Retinal detachment, Abnormality of skin p... |
OMIM:251270 |
Woronets Trait |
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Red blood cell keratocytosis |
OMIM:194320 |
Polycystic Kidney Disease 3 With Or Without Polycystic Liver Disease |
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Dilatation of the cerebral artery, Polycystic kidney dysplasia, Hepatic cysts |
OMIM:600666 |
Ciliary Dyskinesia, Primary, 25 |
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Recurrent sinusitis, Polysplenia, Situs inversus totalis, Dextrocardia |
OMIM:615482 |
Retinopathy, Pericentral Pigmentary, Autosomal Recessive |
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Pigmentary retinopathy |
OMIM:268060 |
Cone-Rod Dystrophy 21 |
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Retinal dystrophy, Macular atrophy |
OMIM:616502 |
Type 1 Diabetes Mellitus |
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Polyphagia, Polydipsia, Polyuria |
OMIM:222100 |
Heterotaxy, Visceral, 5, Autosomal |
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Ventricular septal defect, Atrial septal defect, Dextrocardia, Single ventricle, Double inlet lef... |
OMIM:270100 |
8p23.1 deletion syndrome |
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Abnormal heart morphology, Atrial septal defect, Atrioventricular canal defect |
DECIPHER:39 |
Heterotaxy, Visceral, 11, Autosomal, With Male Infertility |
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Polysplenia, Situs inversus totalis, Partial atrioventricular canal defect, Chronic sinusitis, Pr... |
OMIM:619608 |
Renal Tubular Dysgenesis |
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Nephropathy, Proximal tubulopathy, Renotubular dysgenesis, Tetralogy of Fallot, Multiple renal cysts |
ORPHA:3033 |
Atrioventricular Septal Defect 5 |
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Hypoplastic left heart, Atrioventricular canal defect, Muscular ventricular septal defect |
OMIM:614474 |
Chromosome 16P13.3 Deletion Syndrome, Proximal |
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Hypoplastic left heart, Polysplenia, Micrognathia, Abnormality of the kidney |
OMIM:610543 |
Pentalogy Of Cantrell |
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Aplasia/Hypoplasia of the radius, Renal agenesis, Polysplenia, Tetralogy of Fallot, Abnormal peri... |
ORPHA:1335 |
Retinal Cone Dystrophy 4 |
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Retinal pigment epithelial mottling, Cone/cone-rod dystrophy |
OMIM:610478 |
Atrial Septal Defect 8 |
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Atrial septal defect, Anomalous pulmonary venous return |
OMIM:614433 |
Congenital Disorder Of Glycosylation, Type If |
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Optic atrophy, Ventriculomegaly, Renal cortical cysts |
OMIM:609180 |
Spermatogenic Failure, X-Linked, 6 |
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Absent sperm axoneme central pair complex, Microcephalic sperm head, Reduced progressive sperm mo... |
OMIM:301101 |
Fetal Trimethadione Syndrome |
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Tetralogy of Fallot, Transposition of the great arteries, Atrial septal defect, Ventricular septa... |
ORPHA:1913 |
Retinitis Pigmentosa 41 |
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Pigmentary retinopathy, Macular degeneration, Attenuation of retinal blood vessels, Bone spicule ... |
OMIM:612095 |
Choroideremia |
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Abnormality of retinal pigmentation |
ORPHA:180 |
Cutis Laxa, Autosomal Recessive, Type Ic |
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Accessory spleen, Peripheral pulmonary artery stenosis, Multiple bladder diverticula, Retrognathi... |
OMIM:613177 |
Mpdu1-Cdg |
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Optic atrophy, Ventriculomegaly, Renal cortical cysts |
ORPHA:79323 |
Peroxisome Biogenesis Disorder 9B |
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Anosmia, Total anosmia |
OMIM:614879 |
Cranioacrofacial Syndrome |
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Pulmonic stenosis, Ventricular septal defect |
OMIM:122850 |
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris |
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Tetralogy of Fallot, Micrognathia, Vesicoureteral reflux, Abnormal aortic morphology, Renal hypop... |
ORPHA:1166 |
Mesoaxial Hexadactyly And Cardiac Malformation |
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Patent ductus arteriosus, Atrial septal defect, Pulmonic stenosis, Ventricular septal defect |
OMIM:249670 |
Diabetes And Deafness, Maternally Inherited |
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Pigmentary retinopathy, Retinal degeneration |
OMIM:520000 |
Retinitis Pigmentosa 45 |
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Macular degeneration, Bone spicule pigmentation of the retina, Rod-cone dystrophy |
OMIM:613767 |
Deafness-Infertility Syndrome |
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Azoospermia, Male infertility |
ORPHA:94064 |
Oligomeganephronia |
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Unilateral renal agenesis, Abnormal nephron morphology, Polydipsia, Glomerulomegaly, Optic disc c... |
ORPHA:2260 |
Deafness, Congenital Heart Defects, And Posterior Embryotoxon |
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Tetralogy of Fallot, Peripheral pulmonary artery stenosis, Ventricular septal defect |
OMIM:617992 |
Hypogonadotropic Hypogonadism 10 With Or Without Anosmia |
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Anosmia |
OMIM:614839 |
Hypogonadotropic Hypogonadism 16 With Or Without Anosmia |
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Anosmia, Azoospermia, Hyposmia |
OMIM:614897 |
Joubert Syndrome 5 |
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Nephronophthisis, Occipital encephalocele, Retinal coloboma, Stage 5 chronic kidney disease, Rena... |
OMIM:610188 |
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy |
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Reduced natural killer cell count, Restrictive cardiomyopathy, Endocardial fibroelastosis, Hypopl... |
OMIM:619313 |
Hypogonadotropic Hypogonadism 13 With Or Without Anosmia |
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Anosmia |
OMIM:614842 |
Retinitis Pigmentosa 58 |
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Macular degeneration, Attenuation of retinal blood vessels, Bone spicule pigmentation of the reti... |
OMIM:613617 |
Joubert Syndrome 20 |
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Renal cyst, Aggressive behavior, Retinopathy, Self-mutilation |
OMIM:614970 |
Ritscher-Schinzel Syndrome 1 |
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Aortic valve stenosis, Hypoplastic left heart, Tetralogy of Fallot, Micrognathia, Ventricular sep... |
OMIM:220210 |
Aneurysm Of Interventricular Septum |
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Vascular dilatation, Abnormal ventricular septum morphology |
OMIM:105805 |
Macular Dystrophy, Retinal, 3 |
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Retinal pigment epithelial atrophy, Hyperautofluorescent macular lesion, Retinal neovascularizati... |
OMIM:608850 |
Senior-Loken Syndrome 3 |
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Nephronophthisis, Polydipsia, Stage 5 chronic kidney disease, Renal corticomedullary cysts, Polyu... |
OMIM:606995 |
Sonoda Syndrome |
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Ventricular septal defect |
OMIM:270460 |
Spermatogenic Failure 81 |
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Acrosomal hypoplasia, Reduced progressive sperm motility, Oligozoospermia, Male infertility |
OMIM:620277 |
Retinitis Pigmentosa 10 |
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Attenuation of retinal blood vessels, Bull's eye maculopathy, Bone spicule pigmentation of the re... |
OMIM:180105 |
Oguchi Disease |
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Mizuo phenomenon, Macular degeneration, Rod-cone dystrophy, Congenital stationary night blindness |
ORPHA:75382 |
Meacham Syndrome |
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Aortic valve stenosis, Hypoplastic left heart, Tetralogy of Fallot, Abnormality of the spleen, Co... |
ORPHA:3097 |
Cardiac Septal Defects With Coarctation Of The Aorta |
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Coarctation of aorta, Perimembranous ventricular septal defect, Secundum atrial septal defect |
OMIM:212090 |
Carpenter Syndrome 1 |
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Hypoplasia of the maxilla, Hydroureter, Polysplenia, Tetralogy of Fallot, Persistence of primary ... |
OMIM:201000 |
Hypogonadotropic Hypogonadism 3 With Or Without Anosmia |
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Anosmia, Hyposmia |
OMIM:244200 |
Ceroid Lipofuscinosis, Neuronal, 1 |
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Optic atrophy, Macular degeneration, Retinal degeneration |
OMIM:256730 |
Ochoa Syndrome |
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Urethral obstruction, Polydipsia, Recurrent urinary tract infections, Vesicoureteral reflux, Rena... |
ORPHA:2704 |
Bardet-Biedl Syndrome 2 |
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Hypogonadism, Obesity, Rod-cone dystrophy, Retinal degeneration |
OMIM:615981 |
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome |
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Accessory spleen, Hepatic fibrosis, Renal hypoplasia, Severe B lymphocytopenia, Small hand, Exocr... |
OMIM:620005 |
Ataxia-Intellectual Disability-Oculomotor Apraxia-Cerebellar Cysts Syndrome |
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Inferior cerebellar vermis hypoplasia, Cerebellar dysplasia, Dilated fourth ventricle, Retinal at... |
ORPHA:370022 |
Hypomagnesemia, Seizures, And Impaired Intellectual Development 2 |
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Nephrocalcinosis, Ventriculomegaly, Renal magnesium wasting, Hyperactivity, Polyuria, Self-biting... |
OMIM:618314 |
Recombinant Chromosome 8 Syndrome |
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Tetralogy of Fallot, Micrognathia, Malar flattening, Ventricular septal defect, Hydronephrosis, D... |
OMIM:179613 |
Arrhinia-Choanal Atresia-Microphthalmia Syndrome |
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Choanal atresia, Aplasia/Hypoplasia involving the nose, Abnormality of the sense of smell |
ORPHA:1135 |
Ciliary Dyskinesia, Primary, 40 |
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Unbalanced atrioventricular canal defect, Atrioventricular canal defect, Congenitally corrected t... |
OMIM:618300 |
Renal Dysplasia, Cystic, Susceptibility To |
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Hyperechogenic kidneys, Vesicoureteral reflux, Renal insufficiency, Renal dysplasia, Cystic renal... |
OMIM:601331 |
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin |
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Poikilocytosis, Oval macrocytosis, Anemia of inadequate production, Anisocytosis |
OMIM:603529 |
Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome |
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Pigmentary retinopathy, Hypogonadism, Retinal degeneration, Growth delay, Small for gestational age |
ORPHA:3363 |
Leber Congenital Amaurosis 9 |
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Optic atrophy, Retinal pigment epithelial mottling, Attenuation of retinal blood vessels, Retinal... |
OMIM:608553 |
Feingold Syndrome 1 |
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Interrupted aortic arch, Accessory spleen, Annular pancreas, Short toe, Polysplenia, Short thumb,... |
OMIM:164280 |
Cystinosis |
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Nephropathy, Aminoaciduria, Polydipsia, Renal insufficiency, Retinopathy, Renal tubular dysfuncti... |
ORPHA:213 |
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome |
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Splenic infarction, Persistence of hemoglobin F, Increased red cell sickling tendency, Reticulocy... |
ORPHA:251380 |
Hypogonadotropic Hypogonadism 15 With Or Without Anosmia |
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Anosmia |
OMIM:614880 |
Alagille Syndrome 2 |
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Cholestatic liver disease, Renal hypoplasia, Peripheral pulmonary artery stenosis, Tetralogy of F... |
OMIM:610205 |
Renal-Hepatic-Pancreatic Dysplasia 2 |
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Aortic valve stenosis, Malformation of the hepatic ductal plate, Hepatic fibrosis, Hypertrophic c... |
OMIM:615415 |
Nephronophthisis 2 |
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Nephronophthisis, Hyperechogenic kidneys, Stage 5 chronic kidney disease, Absence of renal cortic... |
OMIM:602088 |
Leber Congenital Amaurosis 4 |
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Optic disc pallor, Attenuation of retinal blood vessels, Macular atrophy, Cone/cone-rod dystrophy |
OMIM:604393 |
Criss-Cross Heart |
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Mitral stenosis, Abnormal mitral valve morphology, Ventricular septal defect, Transposition of th... |
ORPHA:1461 |
Birdshot Chorioretinopathy |
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Abnormal chorioretinal morphology, Choroidal neovascularization, Retinal thinning, Epiretinal mem... |
ORPHA:179 |
Morning Glory Disc Anomaly |
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Retinal detachment, Abnormality of retinal pigmentation, Optic disc coloboma |
ORPHA:35737 |
Meckel Syndrome |
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Accessory spleen, Asplenia, Multicystic kidney dysplasia, Micrognathia, Situs inversus totalis, C... |
ORPHA:564 |
Biliary, Renal, Neurologic, And Skeletal Syndrome |
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Unbalanced atrioventricular canal defect, Dilatation of the renal pelvis, Cholestasis, Dark urine... |
OMIM:619534 |
Hyperostosis Cranialis Interna |
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Anosmia, Hyposmia |
OMIM:144755 |
Joubert Syndrome 16 |
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Nephronophthisis, Encephalocele, Renal cyst, Retinal dystrophy, Dandy-Walker malformation |
OMIM:614465 |
Craniosynostosis-Dandy-Walker Malformation-Hydrocephalus Syndrome |
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Optic atrophy, Hydrocephalus, Dandy-Walker malformation |
ORPHA:1538 |
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy |
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Ventriculomegaly, Dilated third ventricle, Occipital encephalocele, Lateral ventricle dilatation,... |
ORPHA:397715 |
Bardet-Biedl Syndrome 21 |
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Retinal thinning, Hyperautofluorescent macular lesion, Cone/cone-rod dystrophy, Hypoplasia of the... |
OMIM:617406 |
Retinitis Pigmentosa 1 |
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Optic disc pallor, Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina,... |
OMIM:180100 |
Distal Duplication 17Q |
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Accessory spleen, Rhizomelia, Abnormal heart morphology, Micrognathia, Vesicoureteral reflux, Ren... |
ORPHA:3379 |
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2 |
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Accessory spleen, Cholestatic liver disease, Microretrognathia, Polysplenia, Exocrine pancreatic ... |
OMIM:619418 |
Hypogonadotropic Hypogonadism 25 With Anosmia |
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Anosmia |
OMIM:618841 |
Congenital Stationary Night Blindness |
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Congenital stationary night blindness with abnormal fundus, Congenital stationary night blindness... |
ORPHA:215 |
Leber Congenital Amaurosis 8 |
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Pigmentary retinopathy, Nummular pigmentation of the fundus, Choriocapillaris atrophy, Chorioreti... |
OMIM:613835 |
Newfoundland Rod-Cone Dystrophy |
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Bone spicule pigmentation of the retina, Retinal dystrophy |
OMIM:607476 |
Hemolytic Anemia With Thermal Sensitivity Of Red Cells |
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Congenital hemolytic anemia |
OMIM:235370 |
Hemoglobin--Variants For Which The Chain Carrying The Mutation Is Unknown Or Uncertain |
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Compensated hemolytic anemia |
OMIM:142309 |
Anemia, Nonspherocytic Hemolytic, Associated With Abnormality Of Red Cell Membrane |
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Nonspherocytic hemolytic anemia |
OMIM:206300 |
Blepharophimosis With Ptosis, Syndactyly, And Short Stature |
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Wide nasal bridge, Anosmia |
OMIM:210745 |
Hypogonadotropic Hypogonadism 2 With Or Without Anosmia |
|