Cephalin Lipidosis |
|
Abnormality of the spleen |
OMIM:212800 |
Testicular Torsion |
|
Testicular torsion, Torsion of appendix of testis |
OMIM:187400 |
Testicular Microlithiasis |
|
Testicular microlithiasis |
OMIM:610441 |
Hemoglobin-Delta locus |
|
Anemia, Imbalanced hemoglobin synthesis |
OMIM:142000 |
Thalassemia, Beta+, Silent Allele |
|
Reduced beta/alpha synthesis ratio |
OMIM:187550 |
Hemoglobin D Disease |
|
Decreased mean corpuscular volume, Abnormal hemoglobin, HbS hemoglobin, Splenomegaly, Reduced alp... |
ORPHA:90039 |
Fetal Hemoglobin Quantitative Trait Locus 1 |
|
Persistence of hemoglobin F |
OMIM:141749 |
Hemoglobin H Disease |
|
Hepatomegaly, Splenomegaly, Reduced alpha/beta synthesis ratio, Hemolytic anemia, HbH hemoglobin |
OMIM:613978 |
Methemoglobin Reductase Deficiency |
|
Abnormal erythrocyte morphology |
OMIM:250700 |
Atr-16 syndrome |
|
Abnormal erythrocyte morphology |
DECIPHER:65 |
Hemoglobin C-Beta-Thalassemia Syndrome |
|
Anemia, Microcytic anemia, Abnormal hemoglobin, Splenomegaly |
ORPHA:231242 |
Hemoglobin E-Beta-Thalassemia Syndrome |
|
Anemia, Abnormal hemoglobin |
ORPHA:231249 |
Tuftsin Deficiency |
|
Abnormality of the spleen |
OMIM:191150 |
Beta-Thalassemia, Dominant Inclusion Body Type |
|
Hepatomegaly, Splenomegaly, Persistence of hemoglobin F, Erythrocyte inclusion bodies, Microcytic... |
OMIM:603902 |
Diamond-Blackfan Anemia-Like |
|
Steroid-responsive anemia, Pure red cell aplasia |
OMIM:617911 |
Acetophenetidin Sensitivity |
|
Hemolytic anemia, Methemoglobinemia |
OMIM:200300 |
Diamond-Blackfan Anemia 19 |
|
Steroid-responsive anemia, Anemia, Erythroid hypoplasia |
OMIM:618312 |
Delta-Beta-Thalassemia |
|
Anemia, Microcytic anemia, Abnormal hemoglobin |
ORPHA:231237 |
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
|
Persistence of hemoglobin F, Anemia, Hepatomegaly, Splenomegaly |
ORPHA:46532 |
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome |
|
Anemia, Abnormal hemoglobin, Thrombocytopenia, Splenomegaly |
ORPHA:231393 |
Transient Erythroblastopenia Of Childhood |
|
Anemia, Transient erythroblastopenia |
OMIM:227050 |
Methemoglobinemia, Beta Type |
|
Methemoglobinemia |
OMIM:617971 |
Methemoglobinemia, Alpha Type |
|
Methemoglobinemia |
OMIM:617973 |
Hemoglobin E Disease |
|
Hypochromia, Anemia of inadequate production, Abnormal hemoglobin, Decreased mean corpuscular vol... |
ORPHA:2133 |
Alpha-Thalassemia Myelodysplasia Syndrome |
|
HbH hemoglobin, Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia |
OMIM:300448 |
Choroidal Dystrophy, Central Areolar, 1 |
|
Chorioretinal atrophy, Choriocapillaris atrophy, Pigmentary retinopathy |
OMIM:215500 |
Retinitis Pigmentosa 36 |
|
Macular degeneration, Rod-cone dystrophy, Attenuation of retinal blood vessels, Optic disc pallor... |
OMIM:610599 |
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency |
|
Hepatomegaly, Pigmentary retinopathy |
OMIM:609016 |
Anemia, Sideroblastic, Pyridoxine-Responsive, Autosomal Recessive |
|
Hypochromia, Decreased mean corpuscular volume, Hepatosplenomegaly, Sideroblastic anemia, Pyridox... |
OMIM:206000 |
Hyperinsulinemic Hypoglycemia, Familial, 2 |
|
Pancreatic islet-cell hyperplasia, Nesidioblastosis |
OMIM:601820 |
Leber Congenital Amaurosis 13 |
|
Bone spicule pigmentation of the retina, Optic disc pallor, Attenuation of retinal blood vessels,... |
OMIM:612712 |
Choroideremia |
|
Granular macular appearance, Choroideremia, Retinal pigment epithelial mottling, Chorioretinal at... |
OMIM:303100 |
Beta-Thalassemia |
|
Hypochromic microcytic anemia, Reduced beta/alpha synthesis ratio |
OMIM:613985 |
Alpha-Thalassemia |
|
Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia |
OMIM:604131 |
Alpha-Thalassemia |
|
Cholelithiasis, Abnormal hemoglobin, Splenomegaly, Hemolytic anemia, Microcytic anemia, Anemia, J... |
ORPHA:846 |
Oliver-Mcfarlane Syndrome |
|
Decreased response to growth hormone stimulation test, Retinal degeneration, Hypoplasia of penis,... |
OMIM:275400 |
Cyanosis, Transient Neonatal |
|
Methemoglobinemia, Hepatomegaly, Anemia, Reticulocytosis, Jaundice |
OMIM:613977 |
X-Linked Retinal Dysplasia |
|
Abnormality of retinal pigmentation, Abnormal retinal vascular morphology, Retinal dysplasia |
ORPHA:1852 |
Anemia, Hypochromic Microcytic, With Iron Overload 1 |
|
Hypochromia, Decreased mean corpuscular volume, Anemia, Abnormality of the liver |
OMIM:206100 |
Sorsby Pseudoinflammatory Fundus Dystrophy |
|
Abnormal fundus autofluorescence imaging, Subretinal deposits, Yellow/white lesions of the macula... |
ORPHA:59181 |
Heinz Body Anemias |
|
Nonspherocytic hemolytic anemia, Heinz bodies, Heinz body anemia |
OMIM:140700 |
Permanent Neonatal Diabetes Mellitus-Pancreatic And Cerebellar Agenesis Syndrome |
|
Optic nerve hypoplasia, Aplasia/Hypoplasia of the pancreas |
ORPHA:65288 |
Central Areolar Choroidal Dystrophy |
|
Perifoveal ring of hyperautofluorescence, Full-thickness macular hole, Absent retinal pigment epi... |
ORPHA:75377 |
Reticuloendotheliosis, X-Linked |
|
Anemia, Hepatosplenomegaly, Lymphadenopathy, Jaundice |
OMIM:312500 |
Bardet-Biedl Syndrome 13 |
|
Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels, Rod-cone dystrophy |
OMIM:615990 |
Macular Dystrophy, Retinal, 2 |
|
Perifoveal ring of hyperautofluorescence, Macular dystrophy, Granular macular appearance, Retinal... |
OMIM:608051 |
Retinopathy, Pericentral Pigmentary, Dominant |
|
Retinopathy, Attenuation of retinal blood vessels, Pigmentary retinopathy, Retinal dystrophy, Ret... |
OMIM:180210 |
Familial Drusen |
|
Perifoveal ring of hyperautofluorescence, Granular macular appearance, Abnormality of retinal pig... |
ORPHA:75376 |
Retinitis Pigmentosa 39 |
|
Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels, Rod-cone dystrophy |
OMIM:613809 |
Liberfarb Syndrome |
|
Retinal pigment epithelial mottling, Optic disc pallor, Retinal degeneration, Bone spicule pigmen... |
OMIM:618889 |
Persistent Placoid Maculopathy |
|
Abnormal macular morphology, Hypoplasia of the fovea, Choroidal neovascularization, Retinal pigme... |
ORPHA:97341 |
Hyperreflexia |
|
Abnormality of retinal pigmentation |
OMIM:145290 |
Cleft Lip-Retinopathy Syndrome |
|
Retinopathy, Abnormality of retinal pigmentation |
ORPHA:1995 |
Grouped Pigmentation Of The Retina |
|
Abnormality of retinal pigmentation |
OMIM:233800 |
Asplenia, Isolated Congenital |
|
Thrombocytosis, Asplenia, Howell-Jolly bodies |
OMIM:271400 |
Hypophosphatemic Rickets, Autosomal Recessive, 1 |
|
Hypophosphatemic rickets, Increased bone mineral density, Rickets, Craniosynostosis |
OMIM:241520 |
Diamond-Blackfan Anemia 3 |
|
Increased mean corpuscular volume, Persistence of hemoglobin F, Macrocytic anemia, Reticulocytope... |
OMIM:610629 |
Night Blindness, Congenital Stationary, Autosomal Dominant 1 |
|
Bone spicule pigmentation of the retina, Congenital stationary night blindness |
OMIM:610445 |
Retinitis Pigmentosa 32 |
|
Photoreceptor layer loss on macular OCT, Retinal degeneration, Attenuation of retinal blood vesse... |
OMIM:609913 |
Retinitis Pigmentosa 30 |
|
Rod-cone dystrophy, Chorioretinal atrophy, Attenuation of retinal blood vessels, Optic atrophy, B... |
OMIM:607921 |
Homocarnosinosis |
|
Abnormality of retinal pigmentation, Abnormality of skin pigmentation |
OMIM:236130 |
Nanophthalmos |
|
Abnormality of retinal pigmentation, Abnormal choroid morphology |
ORPHA:35612 |
Ceroid storage disease |
|
Abnormality of the spleen |
OMIM:214200 |
Congenital Amegakaryocytic Thrombocytopenia |
|
Anemia, Abnormal hemoglobin, Thrombocytopenia |
ORPHA:3319 |
Retinitis Pigmentosa 33 |
|
Rod-cone dystrophy, Attenuation of retinal blood vessels, Retinal pigment epithelial atrophy, Opt... |
OMIM:610359 |
Retinitis Pigmentosa 69 |
|
Abnormality of retinal pigmentation, Pigmentary retinopathy, Rod-cone dystrophy |
OMIM:615780 |
Nephronophthisis |
|
Abnormality of retinal pigmentation |
ORPHA:655 |
Bothnia Retinal Dystrophy |
|
Increased OCT-measured foveal thickness, Retinal degeneration, Macular degeneration, Abnormal fov... |
ORPHA:85128 |
Ataxia-Tapetoretinal Degeneration Syndrome |
|
Pigmentary retinopathy, Rod-cone dystrophy |
ORPHA:1178 |
Muscular Atrophy-Ataxia-Retinitis Pigmentosa-Diabetes Mellitus Syndrome |
|
Abnormality of retinal pigmentation |
ORPHA:2579 |
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome |
|
Optic atrophy, Abnormality of retinal pigmentation |
ORPHA:1574 |
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells |
|
Pancytopenia, Decreased helper T cell proportion, Hypersplenism, Splenomegaly |
OMIM:183350 |
Retinitis Pigmentosa |
|
Abnormality of retinal pigmentation, Abnormal retinal vascular morphology, Hypoplasia of penis, O... |
ORPHA:791 |
Central Retinal Vein Occlusion |
|
Cystoid macular edema, Macular degeneration, Papilledema, Macular edema, Retinal neovascularizati... |
ORPHA:411527 |
Cerebellar Hypoplasia-Tapetoretinal Degeneration Syndrome |
|
Optic atrophy, Abnormality of retinal pigmentation |
ORPHA:2246 |
Reticular Dystrophy Of Retinal Pigment Epithelium |
|
Abnormality of retinal pigmentation, Pigmentary retinopathy |
OMIM:179840 |
Alpha-Thalassemia-Myelodysplastic Syndrome |
|
Splenomegaly, Microcytic anemia, Neutropenia, HbH hemoglobin, Thrombocytopenia, Acute leukemia |
ORPHA:231401 |
Neuropathy, Ataxia, And Retinitis Pigmentosa |
|
Retinal pigment epithelial mottling, Retinopathy, Rod-cone dystrophy |
OMIM:551500 |
Retinitis Pigmentosa 47 |
|
Chorioretinal atrophy, Pigmentary retinopathy, Rod-cone dystrophy |
OMIM:613758 |
Choroidal Atrophy-Alopecia Syndrome |
|
Abnormality of retinal pigmentation, Supernumerary nipple |
ORPHA:1433 |
Peroxisomal Acyl-Coa Oxidase Deficiency |
|
Hepatomegaly, Rod-cone dystrophy, Pigmentary retinopathy, Optic atrophy, Diffuse hepatic steatosis |
OMIM:264470 |
Exudative Vitreoretinopathy 2, X-Linked |
|
Exudative vitreoretinopathy, Peripheral retinal avascularization, Falciform retinal fold, Retinal... |
OMIM:305390 |
Vitreoretinopathy, Neovascular Inflammatory |
|
Vitreous hemorrhage, Peripheral retinal neovascularization, Retinal detachment, Vitreoretinopathy... |
OMIM:193235 |
Retinitis Pigmentosa 54 |
|
Bone spicule pigmentation of the retina, Fundus atrophy, Attenuation of retinal blood vessels, Ro... |
OMIM:613428 |
Leber Congenital Amaurosis 1 |
|
Hepatomegaly, Attenuation of retinal blood vessels, Pigmentary retinopathy, Optic disc drusen, Fu... |
OMIM:204000 |
Ceroid Lipofuscinosis, Neuronal, 7 |
|
Optic atrophy, Retinopathy, Pigmentary retinopathy |
OMIM:610951 |
Hypophosphatasia, Adult |
|
Recurrent fractures, Osteomalacia, Pathologic fracture, Increased susceptibility to fractures, Ri... |
OMIM:146300 |
Cone-Rod Dystrophy 16 |
|
Rod-cone dystrophy, Attenuation of retinal blood vessels, Cone/cone-rod dystrophy, Optic disc pal... |
OMIM:614500 |
Cerebellar Ataxia-Hypogonadism Syndrome |
|
Abnormality of retinal pigmentation, Supernumerary nipple, Hypogonadotropic hypogonadism, Optic a... |
ORPHA:1173 |
Autosomal Recessive Complex Spastic Paraplegia Due To Kennedy Pathway Dysfunction |
|
Cleft palate, Retinal pigment epithelial mottling, Central retinal vessel vascular tortuosity, Bi... |
ORPHA:506353 |
Senior-Loken Syndrome |
|
Abnormality of retinal pigmentation, Retinal dystrophy, Congenital hepatic fibrosis |
ORPHA:3156 |
Retinitis Pigmentosa 11 |
|
Perifoveal ring of hyperautofluorescence, Rod-cone dystrophy, Macular degeneration, Macular edema... |
OMIM:600138 |
Progressive Cone Dystrophy |
|
Abnormality of retinal pigmentation |
ORPHA:1871 |
Kearns-Sayre Syndrome |
|
Abnormality of retinal pigmentation, Anterior hypopituitarism |
ORPHA:480 |
Alpha-Methylacyl-Coa Racemase Deficiency |
|
Hypergonadotropic hypogonadism, Rod-cone dystrophy, Pigmentary retinopathy, Abnormality of the liver |
OMIM:614307 |
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1 |
|
Abnormality of retinal pigmentation, Retinal detachment, Retinal dystrophy, Optic disc pallor, Ab... |
OMIM:251270 |
Ophthalmoplegia-Intellectual Disability-Lingua Scrotalis Syndrome |
|
Facial palsy, Abnormality of retinal pigmentation, Furrowed tongue |
ORPHA:2743 |
Retinitis Pigmentosa 61 |
|
Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels, Rod-cone dystrophy |
OMIM:614180 |
Achromatopsia |
|
Absent foveal reflex, Abnormal macular morphology, Retinal pigment epithelial mottling, Attenuati... |
ORPHA:49382 |
Blue Cone Monochromatism |
|
Abnormality of retinal pigmentation |
ORPHA:16 |
Exudative Vitreoretinopathy 1 |
|
Exudative vitreoretinopathy, Vitreous hemorrhage, Posterior vitreous detachment, Peripheral retin... |
OMIM:133780 |
Retinitis Pigmentosa 40 |
|
Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels, Rod-cone dystrophy |
OMIM:613801 |
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome |
|
Abnormality of retinal pigmentation, Hypergonadotropic hypogonadism, Decreased testicular size, P... |
ORPHA:3085 |
Progressive Bifocal Chorioretinal Atrophy |
|
Pigmentary retinopathy, Chorioretinal dystrophy, Macular atrophy |
ORPHA:75373 |
Stargardt Disease |
|
Yellow/white lesions of the macula, Abnormal foveal morphology, Macular degeneration, Retinal pig... |
ORPHA:827 |
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin |
|
Anemia of inadequate production, Anisocytosis, Oval macrocytosis, Poikilocytosis |
OMIM:603529 |
Hypophosphatemic Bone Disease |
|
Osteomalacia, Rickets |
OMIM:146350 |
Bietti Crystalline Dystrophy |
|
Subretinal deposits, Cystoid macular edema, Retinal pigment epithelial mottling, Retinal thinning... |
ORPHA:41751 |
Microcephaly-Cardiomyopathy Syndrome |
|
Abnormality of retinal pigmentation, High, narrow palate |
ORPHA:2515 |
Retinitis Pigmentosa 76 |
|
Cystoid macular edema, Retinal thinning, Bone spicule pigmentation of the retina, Hyperautofluore... |
OMIM:617123 |
Retinitis Pigmentosa 7 |
|
Chorioretinal atrophy, Attenuation of retinal blood vessels, Pigmentary retinopathy, Rod-cone dys... |
OMIM:608133 |
Familial Exudative Vitreoretinopathy |
|
Vitreous hemorrhage, Rhegmatogenous retinal detachment, Peripheral retinal avascularization, Chor... |
ORPHA:891 |
Retinitis Pigmentosa 90 |
|
Cystoid macular edema, Attenuation of retinal blood vessels, Retinal pigment epithelial atrophy, ... |
OMIM:619007 |
Microphthalmia, Isolated 5 |
|
Foveoschisis, Cystoid macular edema, Abnormal foveal morphology, Rod-cone dystrophy, Optic disc d... |
OMIM:611040 |
Retinitis Pigmentosa 37 |
|
Cystoid macular degeneration, Pigmentary retinopathy, Rod-cone dystrophy |
OMIM:611131 |
Congenital Muscular Dystrophy With Intellectual Disability |
|
Micropenis, Facial palsy, Pigmentary retinopathy, Cryptorchidism, Abnormality of the tongue muscle |
ORPHA:370968 |
Perlman Syndrome |
|
Abnormal pancreas morphology, Hepatomegaly, High, narrow palate, Hypoplasia of penis, Cryptorchidism |
ORPHA:2849 |
Spinocerebellar Ataxia, Autosomal Recessive 29 |
|
Retinal pigment epithelial mottling, Optic disc pallor |
OMIM:619389 |
Multiple Mitochondrial Dysfunctions Syndrome 5 |
|
Pigmentary retinopathy |
OMIM:617613 |
Laurence-Moon Syndrome |
|
Pigmentary retinopathy, Small scrotum, Micropenis |
OMIM:245800 |
Martinez-Frias Syndrome |
|
Annular pancreas, Duodenal atresia, Intestinal malrotation, Tracheoesophageal fistula, Hypospadia... |
OMIM:601346 |
Beckwith-Wiedemann Syndrome |
|
Hepatomegaly, Hepatoblastoma, Macroglossia, Pancreatic hyperplasia, Enlarged kidney, Gonadoblasto... |
OMIM:130650 |
Pigmented Paravenous Chorioretinal Atrophy |
|
Bone spicule pigmentation of the retina, Paravenous chorioretinal atrophy, Vitreoretinopathy |
OMIM:172870 |
Retinitis Pigmentosa 9 |
|
Bone spicule pigmentation of the retina, Macular edema, Rod-cone dystrophy, Macular atrophy |
OMIM:180104 |
Retinitis Pigmentosa 19 |
|
Rod-cone dystrophy, Attenuation of retinal blood vessels, Retinal pigment epithelial atrophy, Opt... |
OMIM:601718 |
Cone Rod Dystrophy |
|
Abnormality of retinal pigmentation |
ORPHA:1872 |
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor |
|
Rickets of the lower limbs, Delayed epiphyseal ossification, Sparse bone trabeculae, Thin bony co... |
OMIM:600785 |
Retinitis Pigmentosa 88 |
|
Cystoid macular edema, Macular degeneration, Attenuation of retinal blood vessels, Optic disc pal... |
OMIM:618826 |
Leber Congenital Amaurosis 2 |
|
Absent foveal reflex, Attenuation of retinal blood vessels, Pigmentary retinopathy, Fundus atroph... |
OMIM:204100 |
Leber Congenital Amaurosis 9 |
|
Retinal pigment epithelial mottling, Macular coloboma, Attenuation of retinal blood vessels, Opti... |
OMIM:608553 |
Birt-Hogg-Dubé Syndrome |
|
Abnormality of retinal pigmentation, Parathyroid adenoma |
ORPHA:122 |
Congenital Stationary Night Blindness |
|
Congenital stationary night blindness with normal fundus, Abnormality of retinal pigmentation, Re... |
ORPHA:215 |
Sickle Cell Anemia |
|
Increased mean corpuscular volume, Leukocytosis, Hypochromic anemia, Persistence of hemoglobin F,... |
ORPHA:232 |
Adenosine Triphosphate, Elevated, Of Erythrocytes |
|
Polycythemia, Reduced erythrocyte 2,3-diphosphoglycerate concentration |
OMIM:102900 |
Cone-Rod Dystrophy, X-Linked, 1 |
|
Retinal pigment epithelial mottling, Hypoautofluorescent macular lesion, Retinal pigment epitheli... |
OMIM:304020 |
Retinitis Pigmentosa 17 |
|
Bone spicule pigmentation of the retina, Rod-cone dystrophy |
OMIM:600852 |
Retinitis Pigmentosa 28 |
|
Bone spicule pigmentation of the retina, Optic disc pallor, Rod-cone dystrophy |
OMIM:606068 |
Cofs Syndrome |
|
Optic atrophy, Abnormality of retinal pigmentation, Hypogonadism |
ORPHA:1466 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 2 |
|
Macroglossia, Micropenis, Left ventricular hypertrophy, Facial palsy, Pigmentary retinopathy, Cry... |
OMIM:613156 |
Waardenburg-Shah Syndrome |
|
Premature graying of hair, Abnormality of retinal pigmentation, Abnormal macular morphology, Hypo... |
ORPHA:897 |
Diprosopus |
|
Abnormality of retinal pigmentation, Cleft palate |
ORPHA:1681 |
Developmental Delay, Impaired Growth, Dysmorphic Facies, And Axonal Neuropathy |
|
Pigmentary retinopathy |
OMIM:619090 |
Annular Pancreas |
|
Annular pancreas, High intestinal obstruction, Duodenal stenosis |
ORPHA:675 |
Pancreas, Annular |
|
Annular pancreas, High intestinal obstruction, Duodenal stenosis |
OMIM:167750 |
Retinitis Pigmentosa 87 With Choroidal Involvement |
|
Bone spicule pigmentation of the retina, Chorioretinal atrophy, Nummular pigmentation of the fund... |
OMIM:618697 |
Congenital Toxoplasmosis |
|
Abnormality of retinal pigmentation, Hepatomegaly, Jaundice, Cardiomegaly |
ORPHA:858 |
Retinitis Pigmentosa 4 |
|
Pigmentary retinopathy, Rod-cone dystrophy |
OMIM:613731 |
Choroideremia |
|
Abnormality of retinal pigmentation |
ORPHA:180 |
Retinitis Pigmentosa 6 |
|
Chorioretinal degeneration, Pigmentary retinopathy, Rod-cone dystrophy |
OMIM:312612 |
Usher Syndrome, Type Iv |
|
Bone spicule pigmentation of the retina, Hyperautofluorescent macular lesion, Retinal atrophy, Re... |
OMIM:618144 |
Hypophosphatemic Rickets, Autosomal Dominant |
|
Hypophosphatemic rickets, Osteomalacia, Rickets |
OMIM:193100 |
Pancreatic Agenesis 2 |
|
Pancreatic hypoplasia, Steatorrhea |
OMIM:615935 |
Duodenal Atresia |
|
Annular pancreas, Duodenal atresia, Abnormality of the pancreas |
ORPHA:1203 |
Leber Congenital Amaurosis 8 |
|
Chorioretinal atrophy, Nummular pigmentation of the fundus, Pigmentary retinopathy, Choriocapilla... |
OMIM:613835 |
Anemia, Congenital Dyserythropoietic, Type Iv |
|
Circulating nucleated red blood cells, Anemia of inadequate production, Hepatomegaly, Splenomegal... |
OMIM:613673 |
Cryohydrocytosis |
|
Hemolytic anemia, Reticulocytosis, Stomatocytosis, Splenomegaly |
OMIM:185020 |
Ring Chromosome 14 Syndrome |
|
High palate, Pigmentary retinopathy |
OMIM:616606 |
Matthew-Wood Syndrome |
|
Annular pancreas, Aplasia/Hypoplasia of the pancreas, Abnormal spleen morphology, Abnormality of ... |
ORPHA:2470 |
Retinitis Pigmentosa 1 |
|
Bone spicule pigmentation of the retina, Optic disc pallor, Attenuation of retinal blood vessels,... |
OMIM:180100 |
Retinopathy, Pericentral Pigmentary, Autosomal Recessive |
|
Pigmentary retinopathy |
OMIM:268060 |
Retinal Cone Dystrophy 4 |
|
Retinal pigment epithelial mottling, Cone/cone-rod dystrophy |
OMIM:610478 |
Beta-Thalassemia |
|
Cholelithiasis, Abnormal hemoglobin, Hepatomegaly, Splenomegaly, Hepatitis, Microcytic anemia, An... |
ORPHA:848 |
Axial Osteomalacia |
|
Osteomalacia, Increased bone mineral density |
OMIM:109130 |
Congenital Rubella Syndrome |
|
Abnormality of retinal pigmentation, Hepatomegaly, Splenomegaly, Patent ductus arteriosus, Jaundice |
ORPHA:290 |
Long Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency |
|
Cholestatic liver disease, Hepatomegaly, Abnormality of retinal pigmentation, Retinopathy, Chorio... |
ORPHA:5 |
Retinopathy, Pigmentary, And Mental Retardation |
|
Pigmentary retinopathy, Hypogonadism |
OMIM:268050 |
Eem Syndrome |
|
Macular dystrophy, Abnormality of retinal pigmentation, Retinopathy |
ORPHA:1897 |
Retinal Venous Beading |
|
Abnormal distribution of retinal arterioles and venules, Retinal infarction, Vitreous hemorrhage,... |
OMIM:180080 |
Jeune Syndrome |
|
Abnormality of retinal pigmentation, Abnormality of the liver |
ORPHA:474 |
Mitchell-Riley Syndrome |
|
Annular pancreas, Malabsorption, Duodenal atresia, Biliary atresia, Intestinal malrotation, Chole... |
OMIM:615710 |
African Iron Overload |
|
Abnormal pancreas morphology, Hepatomegaly, Micronodular cirrhosis, Viral hepatitis, Peritonitis,... |
ORPHA:139507 |
Neonatal Adrenoleukodystrophy |
|
Optic atrophy, Abnormality of retinal pigmentation, Abnormality of the liver |
ORPHA:44 |
Spherocytosis, Type 5 |
|
Spherocytosis, Abnormal leukocyte count, Splenomegaly, Hemolytic anemia, Abnormal platelet count,... |
OMIM:612690 |
Bardet-Biedl Syndrome 3 |
|
External genital hypoplasia, Pigmentary retinopathy, Rod-cone dystrophy |
OMIM:600151 |
Spinocerebellar Ataxia 7 |
|
Optic atrophy, Pigmentary retinopathy, Macular degeneration |
OMIM:164500 |
Microcephaly-Cleft Palate-Abnormal Retinal Pigmentation Syndrome |
|
Abnormality of retinal pigmentation, Bifid uvula, Cleft palate, Submucous cleft hard palate |
ORPHA:2521 |
Overhydrated Hereditary Stomatocytosis |
|
Splenomegaly, Anisocytosis, Abnormal mean corpuscular volume, Hemolytic anemia, Decreased mean co... |
ORPHA:3203 |
Sjögren-Larsson Syndrome |
|
Retinopathy, Generalized hyperpigmentation, Abnormality of retinal pigmentation, Macular degenera... |
ORPHA:816 |
Eiken Syndrome |
|
Delayed epiphyseal ossification, Abnormal bone ossification, Abnormal trabecular bone morphology,... |
ORPHA:79106 |
Hb Bart'S Hydrops Fetalis |
|
Anemia, Abnormal hemoglobin, Hepatomegaly, Splenomegaly |
ORPHA:163596 |
Retinitis Pigmentosa 86 |
|
Cystoid macular edema, Nummular pigmentation of the fundus, Attenuation of retinal blood vessels,... |
OMIM:618613 |
Retinitis Pigmentosa 41 |
|
Macular degeneration, Rod-cone dystrophy, Attenuation of retinal blood vessels, Pigmentary retino... |
OMIM:612095 |
Retinitis Pigmentosa 12 |
|
Bone spicule pigmentation of the retina, Optic disc pallor, Attenuation of retinal blood vessels,... |
OMIM:600105 |
Night Blindness-Skeletal Anomalies-Dysmorphism Syndrome |
|
Abnormality of retinal pigmentation, Abnormal retinal vascular morphology, Heterochromia iridis |
ORPHA:1390 |
Eales Disease |
|
Vitreous hemorrhage, Cystoid macular edema, Rhegmatogenous retinal detachment, Subhyaloid hemorrh... |
ORPHA:40923 |
Glutathione Synthetase Deficiency |
|
Pigmentary retinopathy |
OMIM:266130 |
Tyrosinemia Type 1 |
|
Rickets of the lower limbs |
ORPHA:882 |
Ramon Syndrome |
|
Abnormality of retinal pigmentation, Narrow palate |
ORPHA:3019 |
Chromosome Xp11.3 Deletion Syndrome |
|
Rod-cone dystrophy, Attenuation of retinal blood vessels, Pigmentary retinopathy, Optic atrophy, ... |
OMIM:300578 |
Retinitis Pigmentosa, Deafness, Mental Retardation, And Hypogonadism |
|
Polycystic ovaries, Hypergonadotropic hypogonadism, Pigmentary retinopathy, Rod-cone dystrophy |
OMIM:268020 |
Oculocutaneous Albinism Type 4 |
|
Abnormality of retinal pigmentation, Ocular albinism, Hypopigmentation of the skin, Hypopigmentat... |
ORPHA:79435 |
Bardet-Biedl Syndrome |
|
Hypoplasia of the ovary, Hypoplasia of penis, Pigmentary retinopathy, Hepatic fibrosis, Hypogonad... |
ORPHA:110 |
Bardet-Biedl Syndrome 6 |
|
External genital hypoplasia, Rod-cone dystrophy, Hypospadias, Pigmentary retinopathy, Vaginal atr... |
OMIM:605231 |
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome |
|
Hypoplasia of the ovary, Reduced circulating prolactin concentration, Rod-cone dystrophy, Hypogon... |
ORPHA:2235 |
Primary Hypomagnesemia With Hypercalciuria And Nephrocalcinosis With Severe Ocular Involvement |
|
Macular coloboma, Abnormality of retinal pigmentation, Chorioretinal coloboma |
ORPHA:2196 |
Retinitis Pigmentosa 92 |
|
Pigmentary retinopathy |
OMIM:619614 |
Hypercholanemia, Familial 1 |
|
Rickets |
OMIM:607748 |
Retinitis Pigmentosa 2 |
|
Rod-cone dystrophy, Pigmentary retinopathy, Fundus atrophy, Chorioretinal degeneration, Bull's ey... |
OMIM:312600 |
Renal Tubular Acidosis Iii |
|
Osteomalacia, Rickets |
OMIM:267200 |
Bone Marrow Failure Syndrome 6 |
|
Increased mean corpuscular volume, Lymphopenia, Persistence of hemoglobin F, Neutropenia, Bone ma... |
OMIM:618849 |
Bile Acid Conjugation Defect 1 |
|
Rickets |
OMIM:619232 |
Pancreatic Agenesis 1 |
|
Pancreatic hypoplasia, Pancreatic aplasia, Exocrine pancreatic insufficiency |
OMIM:260370 |
Disorder Of Bile Acid Synthesis |
|
Rickets |
ORPHA:79168 |
Cone-Rod Dystrophy 3 |
|
Attenuation of retinal blood vessels, Pigmentary retinopathy, Cone/cone-rod dystrophy, Optic disc... |
OMIM:604116 |
Hemolytic Poikilocytic Anemia Due To Reduced Ankyrin Binding Sites |
|
Nonspherocytic hemolytic anemia, Poikilocytosis, Elliptocytosis, Heinz body anemia |
OMIM:141700 |
Senior-Loken Syndrome 8 |
|
Rod-cone dystrophy, Intrahepatic bile duct dilatation, Retinal dystrophy, Hepatic cysts, Macular ... |
OMIM:616307 |
Desmoid Tumor |
|
Intestinal obstruction, Malabsorption, Abnormality of retinal pigmentation, Intestinal polyposis |
ORPHA:873 |
Bornholm Eye Disease |
|
Optic nerve hypoplasia, Abnormality of retinal pigmentation |
OMIM:300843 |
Leber Congenital Amaurosis |
|
Abnormality of retinal pigmentation, Abnormal optic disc morphology |
ORPHA:65 |
Diabetes And Deafness, Maternally Inherited |
|
Pigmentary retinopathy, Retinal degeneration |
OMIM:520000 |
Morning Glory Disc Anomaly |
|
Abnormality of retinal pigmentation, Retinal detachment, Optic disc coloboma |
ORPHA:35737 |
Vitreoretinochoroidopathy |
|
Vitreous hemorrhage, Retinal arteriolar constriction, Retinal detachment, Retinal neovascularizat... |
OMIM:193220 |
Retinitis Pigmentosa 56 |
|
Rod-cone dystrophy, Attenuation of retinal blood vessels, Pigmentary retinopathy, Retinal pigment... |
OMIM:613581 |
Retinitis Pigmentosa 46 |
|
Optic disc pallor, Attenuation of retinal blood vessels, Pigmentary retinopathy, Rod-cone dystrophy |
OMIM:612572 |
Narp Syndrome |
|
Retinal pigment epithelial mottling, Optic disc pallor, Retinal arteriolar tortuosity, Rod-cone d... |
ORPHA:644 |
Peroxisome Biogenesis Disorder 5A (Zellweger) |
|
Hepatomegaly, Cleft palate, Splenomegaly, Hepatosplenomegaly, Intrahepatic biliary dysgenesis, Pi... |
OMIM:614866 |
Hypotaurinemic Retinal Degeneration And Cardiomyopathy |
|
Photoreceptor layer loss on macular OCT, Retinal pigment epithelial mottling, Peripheral retinal ... |
OMIM:145350 |
Retinitis Pigmentosa 51 |
|
Bone spicule pigmentation of the retina, Macular degeneration, Attenuation of retinal blood vesse... |
OMIM:613464 |
Pancreatitis, Hereditary |
|
Exocrine pancreatic insufficiency, Pancreatitis, Steatorrhea, Pancreatic pseudocyst, Pancreatic c... |
OMIM:167800 |
Aceruloplasminemia |
|
Abnormality of retinal pigmentation, Abnormal pancreas morphology, Retinal degeneration, Macular ... |
ORPHA:48818 |
Retinitis Pigmentosa 43 |
|
Rod-cone dystrophy, Attenuation of retinal blood vessels, Pigmentary retinopathy, Optic disc pall... |
OMIM:613810 |
Retinitis Pigmentosa 83 |
|
Cystoid macular edema, Rod-cone dystrophy, Attenuation of retinal blood vessels, Asteroid hyalosi... |
OMIM:618173 |
Retinitis Pigmentosa 10 |
|
Rod-cone dystrophy, Attenuation of retinal blood vessels, Geographic atrophy, Optic disc pallor, ... |
OMIM:180105 |
Micro Syndrome |
|
High palate, Abnormality of retinal pigmentation, Hypoplasia of penis, Retinal coloboma, Clitoral... |
ORPHA:2510 |
Severe Early-Childhood-Onset Retinal Dystrophy |
|
Granular macular appearance, Abnormality of retinal pigmentation, Retinal degeneration, Rhegmatog... |
ORPHA:364055 |
Oculocutaneous Albinism Type 2 |
|
Abnormality of retinal pigmentation, Hyperpigmented nevi, Blue irides, Heterochromia iridis, Hypo... |
ORPHA:79432 |
Congenital Bile Acid Synthesis Defect Type 4 |
|
Cholelithiasis, Cholestatic liver disease, Giant cell hepatitis, Pigmentary retinopathy, Hypogona... |
ORPHA:79095 |
Aplasia Cutis-Myopia Syndrome |
|
Abnormality of retinal pigmentation |
ORPHA:1117 |
Vitamin D Hydroxylation-Deficient Rickets, Type 1B |
|
Recurrent fractures, Delayed epiphyseal ossification, Sparse bone trabeculae, Thin bony cortex, R... |
OMIM:600081 |
Peroxisome Biogenesis Disorder 2A (Zellweger) |
|
Hepatomegaly, Jaundice, Cleft palate, Hypoplasia of the thymus, Pigmentary retinopathy, Optic ner... |
OMIM:214110 |
Hypophosphatemic Rickets, X-Linked Recessive |
|
Delayed epiphyseal ossification, Hypophosphatemic rickets, Sparse bone trabeculae, Recurrent frac... |
OMIM:300554 |
Cone-Rod Dystrophy 8 |
|
Abnormality of retinal pigmentation, Retinal arteriolar constriction, Macular degeneration, Cone/... |
OMIM:605549 |
Ovalocytosis, Hereditary Hemolytic, With Defective Erythropoiesis |
|
Hemolytic anemia, Anemia of inadequate production, Elliptocytosis |
OMIM:166910 |
Fanconi Renotubular Syndrome 2 |
|
Osteopenia, Rickets |
OMIM:613388 |
Microcephaly-Thin Corpus Callosum-Intellectual Disability Syndrome |
|
Abnormality of retinal pigmentation |
ORPHA:397951 |
Retinitis Pigmentosa 58 |
|
Macular degeneration, Rod-cone dystrophy, Attenuation of retinal blood vessels, Optic disc pallor... |
OMIM:613617 |
Renal-Hepatic-Pancreatic Dysplasia 1 |
|
Hepatomegaly, Splenomegaly, Intestinal malrotation, Cirrhosis, Pancreatic fibrosis, Hyperechogeni... |
OMIM:208540 |
Adult-Onset Chronic Progressive External Ophthalmoplegia With Mitochondrial Myopathy |
|
High palate, Pigmentary retinopathy |
ORPHA:329336 |
Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease |
|
Exocrine pancreatic insufficiency, Hepatomegaly, Decreased sensory nerve conduction velocity, Apl... |
ORPHA:456312 |
Joubert Syndrome 28 |
|
Optic disc pallor, Pigmentary retinopathy |
OMIM:617121 |
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities |
|
Abnormal reticulocyte morphology, Anisocytosis, Macrocytic anemia, Poikilocytosis, Increased hemo... |
OMIM:300835 |
Leber Congenital Amaurosis 15 |
|
Retinal degeneration, Rod-cone dystrophy, Retinopathy, Pigmentary retinopathy, Optic disc pallor |
OMIM:613843 |
Mulibrey Nanism |
|
Microglossia, Hepatomegaly, Pigmentary retinopathy, Cardiomegaly |
OMIM:253250 |
Leigh Syndrome |
|
Optic atrophy, Hepatocellular necrosis, Pigmentary retinopathy |
OMIM:256000 |
Pyropoikilocytosis, Hereditary |
|
Hemolytic anemia, Pyropoikilocytosis, Elliptocytosis, Microspherocytosis |
OMIM:266140 |
Tropical Pancreatitis |
|
Chronic calcifying pancreatitis, Abnormal pancreatic duct morphology, Pancreatic calcification, P... |
ORPHA:103918 |
Joubert Syndrome 8 |
|
Optic disc pallor, Hepatomegaly, Pigmentary retinopathy, Prolonged neonatal jaundice |
OMIM:612291 |
Arthrogryposis, Distal, Type 5 |
|
High palate, Abnormality of retinal pigmentation |
OMIM:108145 |
Renal Tubular Acidosis, Distal, 1 |
|
Osteomalacia, Pathologic fracture |
OMIM:179800 |
Retinitis Pigmentosa 25 |
|
Rod-cone dystrophy, Chorioretinal atrophy, Attenuation of retinal blood vessels, Optic disc pallo... |
OMIM:602772 |
Retinitis Pigmentosa 49 |
|
Bone spicule pigmentation of the retina, Optic disc pallor, Attenuation of retinal blood vessels,... |
OMIM:613756 |
Oculocutaneous Albinism Type 1B |
|
Abnormality of retinal pigmentation, Hypopigmentation of the skin, Hypopigmentation of hair, Hypo... |
ORPHA:79434 |
Elliptocytosis 3 |
|
Decreased mean corpuscular volume, Elliptocytosis, Chronic hemolytic anemia, Pyropoikilocytosis, ... |
OMIM:617948 |
Posterior Column Ataxia With Retinitis Pigmentosa |
|
Decreased sensory nerve conduction velocity, Rod-cone dystrophy, Attenuation of retinal blood ves... |
OMIM:609033 |
Yellow Fever |
|
Acute pancreatitis, Pancreatic hyperplasia, Jaundice |
ORPHA:99829 |
Florid Cemento-Osseous Dysplasia |
|
Abnormal bone structure, Multiple bony cystic lesions, Mandibular osteomyelitis, Abnormal trabecu... |
ORPHA:83451 |
Hypocalcemic Vitamin D-Resistant Rickets |
|
Recurrent fractures, Bone cyst, Osteomalacia, Abnormal bone structure, Osteolysis, Coarse metaphy... |
ORPHA:93160 |
Canavan Disease |
|
Optic atrophy, Abnormality of retinal pigmentation |
ORPHA:141 |
Jalili Syndrome |
|
Optic atrophy, Abnormality of retinal pigmentation |
ORPHA:1873 |
Autosomal Recessive Spastic Paraplegia Type 15 |
|
Yellow/white lesions of the retina, Pigmentary retinopathy, Retinal flecks |
ORPHA:100996 |
Retinitis Pigmentosa 3 |
|
Bone spicule pigmentation of the retina, Perifoveal hypoautofluorescence, Rod-cone dystrophy |
OMIM:300029 |
Feingold Syndrome |
|
Annular pancreas, Duodenal atresia, Abnormality of the spleen, Patent ductus arteriosus, Esophage... |
ORPHA:1305 |
Spherocytosis, Type 3 |
|
Hemolytic anemia, Spherocytosis |
OMIM:270970 |
Leigh Syndrome With Leukodystrophy |
|
Optic atrophy, Pigmentary retinopathy |
ORPHA:255241 |
Tricho-Retino-Dento-Digital Syndrome |
|
Abnormality of retinal pigmentation |
ORPHA:1264 |
Retinitis Pigmentosa 45 |
|
Bone spicule pigmentation of the retina, Macular degeneration, Rod-cone dystrophy |
OMIM:613767 |
Multiple Sulfatase Deficiency |
|
Abnormality of retinal pigmentation, Hepatomegaly, Splenomegaly, Optic atrophy, Abnormality of pe... |
ORPHA:585 |
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia |
|
Mottled pigmentation of photoexposed areas, Hepatomegaly, Pigmentary retinopathy |
OMIM:560000 |
Oculopharyngodistal Myopathy 3 |
|
Pigmentary retinopathy |
OMIM:619473 |
Hypophosphatemic Rickets With Hypercalciuria, Hereditary |
|
Delayed epiphyseal ossification, Hypophosphatemic rickets, Sparse bone trabeculae, Recurrent frac... |
OMIM:241530 |
Retinitis Punctata Albescens |
|
Absent foveal reflex, Cystoid macular edema, Abnormality of fundus pigmentation, Retinal pigment ... |
ORPHA:52427 |
Juvenile Paget Disease |
|
Optic atrophy, Abnormality of retinal pigmentation, Melanocytic nevus |
ORPHA:2801 |
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia |
|
Cholelithiasis, Hypoparathyroidism, Perifoveal ring of hyperautofluorescence, Chronic active hepa... |
OMIM:240300 |
Blepharoptosis-Myopia-Ectopia Lentis Syndrome |
|
Abnormality of retinal pigmentation |
ORPHA:1259 |
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease |
|
Jaundice, Aplasia/Hypoplasia of the pancreas, Bicornuate uterus, Papillary cystadenoma of the epi... |
ORPHA:93111 |
Mitochondrial Complex Ii Deficiency, Nuclear Type 1 |
|
Optic atrophy, Pigmentary retinopathy |
OMIM:252011 |
Angioosteohypotrophic Syndrome |
|
Abnormal trabecular bone morphology, Thin bony cortex |
ORPHA:75508 |
Bardet-Biedl Syndrome 17 |
|
Retinal degeneration, Rod-cone dystrophy, Micropenis, Cone/cone-rod dystrophy, Macular atrophy, B... |
OMIM:615994 |
Hereditary Hypophosphatemic Rickets With Hypercalciuria |
|
Pathologic fracture, Hypophosphatemic rickets, Osteomalacia, Reduced bone mineral density |
ORPHA:157215 |
Blindness-Scoliosis-Arachnodactyly Syndrome |
|
Abnormality of retinal pigmentation, Retinal detachment |
ORPHA:171844 |
Wolfram Syndrome 1 |
|
Optic atrophy, Testicular atrophy, Pigmentary retinopathy |
OMIM:222300 |
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase |
|
Methemoglobinemia, Polycythemia |
OMIM:250800 |
Solute carrier family 4 (anion exchanger), member 1 |
|
Spherocytosis, Splenomegaly, Acanthocytosis, Hemolytic anemia, Elliptocytosis, Stomatocytosis, Re... |
OMIM:109270 |
Beta-Thalassemia Intermedia |
|
Cholelithiasis, Anemia of inadequate production, Decreased mean corpuscular volume, Abnormality o... |
ORPHA:231222 |
Congenital Alveolar Capillary Dysplasia |
|
Annular pancreas, Anal atresia, Intestinal malrotation, Tracheoesophageal fistula, Volvulus, Abse... |
ORPHA:210122 |
Vici Syndrome |
|
High palate, Abnormality of retinal pigmentation, Abnormal macular morphology, Hypopigmentation o... |
ORPHA:1493 |
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss |
|
Rickets |
OMIM:602722 |
Acute Zonal Occult Outer Retinopathy |
|
Abnormal retinal vascular morphology, Rod-cone dystrophy, Retinal pigment epithelial mottling, Ab... |
ORPHA:284454 |
Retinitis Pigmentosa 72 |
|
Rod-cone dystrophy, Attenuation of retinal blood vessels, Optic disc pallor, Bone spicule pigment... |
OMIM:616469 |
Refsum Disease |
|
Retinopathy, Abnormality of retinal pigmentation, Splenomegaly |
ORPHA:773 |
Ovalocytosis, Southeast Asian |
|
Hemolytic anemia, Elliptocytosis |
OMIM:166900 |
Primary Familial Polycythemia |
|
Polycythemia, Abnormal hemoglobin |
ORPHA:90042 |
Campomelia, Cumming Type |
|
Polycystic liver disease, Polysplenia, Pancreatic cysts |
OMIM:211890 |
Cone-Rod Dystrophy 10 |
|
Bone spicule pigmentation of the retina, Macular degeneration, Attenuation of retinal blood vesse... |
OMIM:610283 |
Retinitis Pigmentosa 14 |
|
Bone spicule pigmentation of the retina, Optic disc pallor, Retinal arteriolar constriction, Rod-... |
OMIM:600132 |
Zika Virus Disease |
|
Absent foveal reflex, Retinal pigment epithelial mottling, Chorioretinal atrophy, Abnormal optic ... |
ORPHA:448237 |
Bardet-Biedl Syndrome 1 |
|
High palate, Retinal degeneration, Rod-cone dystrophy, High, narrow palate, Vaginal atresia, Left... |
OMIM:209900 |
17Q12 Microdeletion Syndrome |
|
Pancreatic aplasia, Cryptorchidism, Shawl scrotum |
ORPHA:261265 |
Atelosteogenesis Type I |
|
Abnormal pancreatic duct morphology, Malrotation of colon, Retinal dysplasia, Cleft palate |
ORPHA:1190 |
Autosomal Dominant Hypophosphatemic Rickets |
|
Osteomalacia, Rickets |
ORPHA:89937 |
Cohen Syndrome |
|
Decreased response to growth hormone stimulation test, High, narrow palate, Optic atrophy, Bone s... |
OMIM:216550 |
Bardet-Biedl Syndrome 9 |
|
Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels, Retinal degenerati... |
OMIM:615986 |
Fanconi Renotubular Syndrome 1 |
|
Osteomalacia, Rickets |
OMIM:134600 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 15 |
|
Pigmentary retinopathy |
OMIM:619059 |
Dent Disease 1 |
|
Delayed epiphyseal ossification, Sparse bone trabeculae, Recurrent fractures, Osteomalacia, Thin ... |
OMIM:300009 |
Vitamin D Hydroxylation-Deficient Rickets, Type 1A |
|
Recurrent fractures, Delayed epiphyseal ossification, Sparse bone trabeculae, Thin bony cortex, R... |
OMIM:264700 |
Werner Syndrome |
|
Abnormality of retinal pigmentation, Ovarian neoplasm, Aplasia/Hypoplasia of the testes, Hypogona... |
ORPHA:902 |
Fanconi Renotubular Syndrome 3 |
|
Rickets |
OMIM:615605 |
Cone-Rod Dystrophy 2 |
|
Chorioretinal atrophy, Cone/cone-rod dystrophy, Retinal pigment epithelial atrophy, Macular hyper... |
OMIM:120970 |
Juvenile Neuronal Ceroid Lipofuscinosis |
|
Pigmentary retinopathy, Optic disc pallor, Retinal degeneration |
ORPHA:79264 |
Igg4-Related Submandibular Gland Disease |
|
Abnormal pancreas morphology, Sialadenitis, Prostatitis, Xerostomia, Abnormal salivary gland morp... |
ORPHA:449432 |
Peroxisome Biogenesis Disorder 1A (Zellweger) |
|
High palate, Hepatomegaly, High, narrow palate, Macroglossia, Hypospadias, Pigmentary retinopathy... |
OMIM:214100 |
Neurocutaneous Melanocytosis |
|
Abnormality of retinal pigmentation, Numerous congenital melanocytic nevi, Generalized hyperpigme... |
ORPHA:2481 |
Neurodevelopmental Disorder With Seizures And Brain Abnormalities |
|
Retinal pigment epithelial mottling |
OMIM:619517 |
Glycogen Storage Disease Ib |
|
Pancreatitis, Hepatomegaly, Splenomegaly, Pancreatic fibrosis, Hepatocellular carcinoma, Inflamma... |
OMIM:232220 |
Pancreatic And Cerebellar Agenesis |
|
Pancreatic hypoplasia, Optic nerve hypoplasia |
OMIM:609069 |
Mucopolysaccharidosis, Type Ii |
|
Abnormality of retinal pigmentation, Hepatomegaly, Macroglossia, Splenomegaly, Papilledema, Hepat... |
OMIM:309900 |
Kearns-Sayre Syndrome |
|
Hypoparathyroidism, Pigmentary retinopathy |
OMIM:530000 |
Meckel Syndrome |
|
Urethral atresia, Aplasia/Hypoplasia of the tongue, Cleft palate, Pancreatic fibrosis, Male pseud... |
ORPHA:564 |
Mody |
|
Pancreatic hypoplasia, Retinopathy, Exocrine pancreatic insufficiency, Hepatocellular adenoma |
ORPHA:552 |
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type |
|
Rickets |
OMIM:219900 |
Retinitis Pigmentosa 66 |
|
Bone spicule pigmentation of the retina, Optic disc pallor, Rod-cone dystrophy |
OMIM:615233 |
Alstrom Syndrome |
|
Chronic active hepatitis, Hepatomegaly, Decreased response to growth hormone stimulation test, Hy... |
OMIM:203800 |
Hypocalcemic Vitamin D-Dependent Rickets |
|
Delayed epiphyseal ossification, Sparse bone trabeculae, Osteomalacia, Thin bony cortex, Increase... |
ORPHA:289157 |
Prolidase Deficiency |
|
White forelock, Abnormality of retinal pigmentation, Hepatomegaly, Splenomegaly |
ORPHA:742 |
Vitamin D-Dependent Rickets, Type 2A |
|
Recurrent fractures, Delayed epiphyseal ossification, Sparse bone trabeculae, Thin bony cortex, R... |
OMIM:277440 |
Cholestasis, Progressive Familial Intrahepatic, 1 |
|
Osteopenia, Rickets |
OMIM:211600 |
Mucolipidosis Type Iv |
|
Retinopathy, Abnormality of retinal pigmentation |
ORPHA:578 |
Ataxia With Vitamin E Deficiency |
|
Abnormality of retinal pigmentation |
ORPHA:96 |
Chromosome 8Q21.11 Deletion Syndrome |
|
High palate, Cleft palate, Micropenis, Pigmentary retinopathy, Cryptorchidism |
OMIM:614230 |
Enhanced S-Cone Syndrome |
|
Retinoschisis, Macular edema, Pigmentary retinopathy, Vitreoretinopathy |
OMIM:268100 |
Cancer-Associated Retinopathy |
|
Neoplasm of the pancreas, Granular macular appearance, Uterine neoplasm, Prostate cancer, Testicu... |
ORPHA:71505 |
Retinitis Pigmentosa 74 |
|
Optic disc pallor, Pigmentary retinopathy, Rod-cone dystrophy |
OMIM:616562 |
Infantile Systemic Hyalinosis |
|
Joint stiffness, Recurrent fractures, Osteopenia, Camptodactyly of finger, Osteomalacia, Osteopor... |
ORPHA:2176 |
Cohen Syndrome |
|
Abnormality of retinal pigmentation, Aplasia/Hypoplasia of the tongue, High, narrow palate, Optic... |
ORPHA:193 |
Igg4-Related Thyroid Disease |
|
Abnormality of the pituitary gland, Sialadenitis, Euthyroid goiter, Pancreatic fibrosis, Sclerosi... |
ORPHA:64744 |
Autosomal Recessive Chorioretinopathy-Microcephaly Syndrome |
|
Optic atrophy, Abnormality of retinal pigmentation |
ORPHA:2518 |
Joubert Syndrome 3 |
|
Pigmentary retinopathy, Retinal dystrophy |
OMIM:608629 |
Dominant Beta-Thalassemia |
|
Decreased mean corpuscular volume, Splenomegaly, Extramedullary hematopoiesis, Anisocytosis, Pers... |
ORPHA:231226 |
Aicardi Syndrome |
|
Malabsorption, Abnormality of retinal pigmentation, Hiatus hernia, Hepatoblastoma, Cleft palate, ... |
ORPHA:50 |
Tropical Calcific Pancreatitis |
|
Neoplasm of the pancreas, Chronic pancreatitis, Pancreatic calcification |
OMIM:608189 |
Dextrocardia |
|
Intestinal malrotation, Abnormality of the spleen, Pancreatic hypoplasia, Abnormal reproductive s... |
ORPHA:1666 |
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy |
|
Optic atrophy, Diffuse hepatic steatosis, Hepatomegaly, Pigmentary retinopathy |
ORPHA:436271 |
Classic Pantothenate Kinase-Associated Neurodegeneration |
|
Optic disc pallor, Pigmentary retinopathy, Rod-cone dystrophy |
ORPHA:216866 |
Severe Oculo-Renal-Cerebellar Syndrome |
|
Optic atrophy, Abnormality of retinal pigmentation, Hypopigmented skin patches, Abnormal retinal ... |
ORPHA:2715 |
Methemoglobinemia And Ambiguous Genitalia |
|
Methemoglobinemia |
OMIM:250790 |
Beta-Thalassemia Major |
|
Anemia of inadequate production, Decreased mean corpuscular volume, Hepatomegaly, Splenomegaly, E... |
ORPHA:231214 |
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly |
|
Retinal degeneration, Polycystic liver disease, Pancreatic fibrosis, Hepatic fibrosis, Bile duct ... |
OMIM:208500 |
Mitochondrial Trifunctional Protein Deficiency |
|
Hypoparathyroidism, Left ventricular hypertrophy, Pigmentary retinopathy, Cholestasis, Diffuse he... |
ORPHA:746 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 1 |
|
High palate, Hepatomegaly, Pigmentary retinopathy, Optic atrophy, Increased hepatocellular lipid ... |
OMIM:220110 |
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism |
|
Hepatomegaly, Hiatus hernia, Splenomegaly, Cholestasis, Pancreatic hypoplasia, Hepatitis, Splenic... |
OMIM:610199 |
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia |
|
Rickets |
OMIM:611590 |
Isolated Succinate-Coq Reductase Deficiency |
|
Left ventricular hypertrophy, Pigmentary retinopathy |
ORPHA:3208 |
Cockayne Syndrome Type 1 |
|
Absent brainstem auditory responses, Hepatomegaly, Hypermelanotic macule, Pigmentary retinopathy,... |
ORPHA:90321 |
Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction |
|
Recurrent fractures, Rickets |
OMIM:268315 |
Microphthalmia With Linear Skin Defects Syndrome |
|
Abnormality of the anus, Abnormality of retinal pigmentation, Hypopigmented skin patches, Abnorma... |
ORPHA:2556 |
Von Hippel-Lindau Syndrome |
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Neoplasm of the pancreas, Papillary cystadenoma of the epididymis, Pheochromocytoma, Hepatic hema... |
OMIM:193300 |
Hypophosphatemic Rickets, X-Linked Dominant |
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Osteoarthritis, Hypophosphatemic rickets, Osteomalacia, Rickets |
OMIM:307800 |
Jacobsen Syndrome |
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Annular pancreas, Labial hypoplasia, Hypospadias, Clitoral hypoplasia, Optic atrophy, Pyloric ste... |
OMIM:147791 |
Chromosome 6Pter-P24 Deletion Syndrome |
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High palate, Anal atresia, Patent ductus arteriosus, Pigmentary retinopathy |
OMIM:612582 |
Dermatosparaxis Ehlers-Danlos Syndrome |
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Joint stiffness, Osteopenia, Osteomalacia, Osteoporosis, Joint hyperflexibility, Rickets |
ORPHA:1901 |
Spondyloepimetaphyseal Dysplasia, Krakow Type |
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Annular pancreas, Patent ductus arteriosus, High palate |
OMIM:618162 |
Acrocephalopolydactylous Dysplasia |
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Hypoplastic colon, Hepatomegaly, Pancreatic fibrosis, Hypoplasia of the small intestine, Enlarged... |
OMIM:200995 |
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly |
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Cleft palate, Micropenis, Intestinal malrotation, Pancreatic fibrosis, Retinal dystrophy, Hamarto... |
OMIM:263520 |
Autosomal Recessive Hypophosphatemic Rickets |
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Rickets of the lower limbs, Pseudo-fractures, Hypophosphatemic rickets, Increased bone mineral de... |
ORPHA:289176 |
Corpus Callosum Agenesis-Neuronopathy Syndrome |
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Abnormality of retinal pigmentation |
ORPHA:1496 |
Meckel Syndrome, Type 7 |
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Right ventricular hypertrophy, Hepatosplenomegaly, Cholestasis, Patent ductus arteriosus, Portal ... |
OMIM:267010 |
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome |
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Bone spicule pigmentation of the retina, Abnormal sensory nerve conduction velocity, Pigmentary r... |
ORPHA:88628 |
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease |
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Hepatomegaly, Periportal fibrosis, Splenomegaly, Enlarged kidney, Hepatic cysts, Esophageal varix... |
OMIM:263200 |
Mitochondrial Trifunctional Protein Deficiency |
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Pigmentary retinopathy, Cholestasis |
OMIM:609015 |
Mitochondrial Myopathy-Cerebellar Ataxia-Pigmentary Retinopathy Syndrome |
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Increased circulating prolactin concentration, Optic disc pallor, High palate, Pigmentary retinop... |
ORPHA:502423 |
Cone-Rod Dystrophy 6 |
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Chorioretinal atrophy, Attenuation of retinal blood vessels, Cone/cone-rod dystrophy, Macular atr... |
OMIM:601777 |
Nephronophthisis 13 |
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Pancreatic cysts, Intrahepatic bile duct dilatation, Hepatic cysts |
OMIM:614377 |
Myopathy, Mitochondrial, And Ataxia |
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Increased circulating prolactin concentration, High palate, Pigmentary retinopathy |
OMIM:617675 |
Bohring-Opitz Syndrome |
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Narrow palate, Supernumerary nipple, Intestinal malrotation, Hyperechogenic pancreas, Bilateral c... |
OMIM:605039 |
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly |
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Pancreatic fibrosis, Ambiguous genitalia |
OMIM:615503 |
Hardikar Syndrome |
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Hepatomegaly, Cholestasis, Esophageal varix, Prolonged neonatal jaundice, Bile duct proliferation... |
OMIM:301068 |
Xeroderma Pigmentosum, Complementation Group B |
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Decreased nerve conduction velocity, Pigmentary retinopathy, Optic atrophy, Freckling, Hypogonadism |
OMIM:610651 |
Feingold Syndrome 1 |
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Annular pancreas, High palate, Duodenal atresia, Tracheoesophageal fistula, Accessory spleen, Pat... |
OMIM:164280 |
Classic Homocystinuria |
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High palate, Abnormality of retinal pigmentation, Hepatomegaly, Retinal detachment, Optic atrophy... |
ORPHA:394 |
Hereditary Chronic Pancreatitis |
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Pancreatic calcification, Jaundice, Recurrent pancreatitis |
ORPHA:676 |
Trisomy 18 |
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Anal atresia, Abnormality of retinal pigmentation, Narrow palate, Cleft palate, Abnormal morpholo... |
ORPHA:3380 |
Hypophosphatemic Rickets And Hyperparathyroidism |
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Hypophosphatemic rickets, Rickets |
OMIM:612089 |
Histiocytosis-Lymphadenopathy Plus Syndrome |
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Hepatomegaly, Decreased response to growth hormone stimulation test, Splenomegaly, Hypergonadotro... |
OMIM:602782 |
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1 |
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Hepatomegaly, Steatorrhea, Pancreatic fibrosis, Hepatic fibrosis, Shawl scrotum, Hepatic steatosis |
OMIM:616263 |
Shwachman-Diamond Syndrome 2 |
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High palate, Exocrine pancreatic insufficiency, Hepatomegaly, Steatorrhea, Hyperechogenic pancreas |
OMIM:617941 |
Linear Skin Defects With Multiple Congenital Anomalies 1 |
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Anal atresia, Chordee, Hypoplasia of the uterus, Cleft palate, Micropenis, Hypospadias, Pigmentar... |
OMIM:309801 |
Cleft Palate, Proliferative Retinopathy, And Developmental Delay |
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Retinal neovascularization, Cleft palate |
OMIM:619074 |
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome |
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Abnormality of retinal pigmentation, Generalized hypopigmentation, Short hard palate, Melanocytic... |
ORPHA:1969 |
Pearson Syndrome |
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Hypoparathyroidism, Exocrine pancreatic insufficiency, Hepatomegaly, Decreased response to growth... |
ORPHA:699 |
Holoprosencephaly-Craniosynostosis Syndrome |
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Abnormality of retinal pigmentation |
ORPHA:2163 |
Coffin-Lowry Syndrome |
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Optic atrophy, Abnormality of retinal pigmentation, High palate, Narrow palate |
ORPHA:192 |
Diamond-Blackfan Anemia 6 |
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Increased mean corpuscular volume, Persistence of hemoglobin F, Macrocytic anemia |
OMIM:612561 |
Hereditary Methemoglobinemia |
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Methemoglobinemia |
ORPHA:621 |
Abetalipoproteinemia |
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Abnormality of retinal pigmentation, Hepatomegaly, Rod-cone dystrophy, Steatorrhea, Cirrhosis, He... |
ORPHA:14 |
Von Hippel-Lindau Disease |
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Neoplasm of the pancreas, Hypertensive retinopathy, Papilledema, Papillary cystadenoma of the epi... |
ORPHA:892 |
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency |
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Hepatic necrosis, Hepatic steatosis, Pigmentary retinopathy |
ORPHA:71212 |
Fanconi Anemia, Complementation Group D2 |
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Annular pancreas, Micropenis, Hypergonadotropic hypogonadism, Tracheoesophageal fistula, Patent d... |
OMIM:227646 |
Dent Disease |
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Delayed epiphyseal ossification, Sparse bone trabeculae, Recurrent fractures, Osteomalacia, Thin ... |
ORPHA:1652 |
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations |
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Abnormality of the hepatic vasculature, Abnormal retinal vascular morphology, Macular edema, Reti... |
ORPHA:247691 |
Lowry-Wood Syndrome |
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Abnormality of retinal pigmentation |
ORPHA:1824 |
Campomelia, Cumming Type |
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Hepatomegaly, Cleft palate, Abnormality of the pancreas, Abnormal intestine morphology, Pancreati... |
ORPHA:1318 |
Maternal Uniparental Disomy Of Chromosome 4 |
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Optic atrophy, Fat malabsorption, Pigmentary retinopathy, Rod-cone dystrophy |
ORPHA:96180 |
Chromosome 16Q12 Duplication Syndrome |
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Retinal pigment epithelial mottling, Temporal optic disc pallor |
OMIM:619649 |
Autosomal Dominant Cerebellar Ataxia |
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Retinal degeneration, Macular degeneration, Pigmentary retinopathy, Tongue atrophy, Azoospermia |
ORPHA:99 |
Melas |
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Hypoparathyroidism, Hypogonadotropic hypogonadism, Pigmentary retinopathy, Optic atrophy, Vitilig... |
ORPHA:550 |
Fibrous Dysplasia Of Bone |
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Fibrous dysplasia of the bones, Osteomalacia, Thin bony cortex, Abnormal bone structure, Patholog... |
ORPHA:249 |
Retinoblastoma |
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Abnormality of retinal pigmentation, Vitreous hemorrhage, Retinoblastoma, Cleft palate, Heterochr... |
ORPHA:790 |
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome |
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Abnormality of retinal pigmentation, Retinal thinning, Cone/cone-rod dystrophy, Retinal atrophy, ... |
ORPHA:85167 |
Cockayne Syndrome A |
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Hepatomegaly, Decreased nerve conduction velocity, Splenomegaly, Retinal pigment epithelial mottl... |
OMIM:216400 |
Isolated Permanent Neonatal Diabetes Mellitus |
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Pancreatic hypoplasia, Reduced pancreatic beta cells, Retinopathy |
ORPHA:99885 |
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart |
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Annular pancreas, High palate, Duodenal atresia, Multiple cafe-au-lait spots, Hypospadias, Optic ... |
OMIM:616975 |
Pancreatic Agenesis-Holoprosencephaly Syndrome |
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High palate, Pancreatic aplasia, Absent gallbladder |
ORPHA:556955 |
Cartilage-Hair Hypoplasia |
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Malabsorption, Abnormality of retinal pigmentation, Hepatomegaly, Abnormality of the pancreas, Ag... |
ORPHA:175 |
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
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Abnormality of retinal pigmentation, Macroglossia, Hepatosplenomegaly, Enlarged kidney, Optic atr... |
ORPHA:505248 |
Bile Acid Synthesis Defect, Congenital, 1 |
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Rickets |
OMIM:607765 |
Telo2-Related Intellectual Disability-Neurodevelopmental Disorder |
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Annular pancreas, Ankyloglossia, Cleft palate, Rod-cone dystrophy |
ORPHA:488642 |
Beckwith-Wiedemann Syndrome |
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Exocrine pancreatic insufficiency, Abnormal pancreas morphology, Hepatomegaly, Hepatoblastoma, Cr... |
ORPHA:116 |
Chédiak-Higashi Syndrome |
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Spotty hyperpigmentation, Abnormality of retinal pigmentation, Decreased nerve conduction velocit... |
ORPHA:167 |
Cockayne Syndrome |
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Abnormality of retinal pigmentation, Hepatomegaly, Decreased nerve conduction velocity, Retinal d... |
ORPHA:191 |
Cystinosis |
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Rickets |
ORPHA:213 |
Renal Cysts And Diabetes Syndrome |
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Exocrine pancreatic insufficiency, Hypoplasia of the uterus, Atretic vas deferens, Bicornuate ute... |
OMIM:137920 |
Ramon Syndrome |
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Optic disc pallor, Enlarged labia minora, Narrow palate, Pigmentary retinopathy |
OMIM:266270 |
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16 |
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HbH hemoglobin, Microcytic anemia |
ORPHA:98791 |
Neurofibromatosis Type 1 |
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Precocious puberty, Abnormality of retinal pigmentation, Multiple cafe-au-lait spots, Pheochromoc... |
ORPHA:636 |
Mucopolysaccharidosis Type 2 |
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Abnormality of retinal pigmentation, Hepatomegaly, Decreased nerve conduction velocity, Retinal d... |
ORPHA:580 |
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young |
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Rickets |
OMIM:616026 |
Bohring-Opitz Syndrome |
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Cholelithiasis, Annular pancreas, Cleft palate, Optic atrophy, Retinal atrophy, Cardiomegaly |
ORPHA:97297 |
Distal Monosomy 12Q |
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Annular pancreas, Pituitary adenoma, Congenital hypertrophy of left ventricle, Duodenal atresia, ... |
ORPHA:96149 |
Neuromuscular Oculoauditory Syndrome |
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Retinal pigment epithelial mottling, Decreased amplitude of sensory action potentials, Chorioreti... |
OMIM:618733 |
Pantothenate Kinase-Associated Neurodegeneration |
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Retinal degeneration, Rod-cone dystrophy, Pigmentary retinopathy, Retinal flecks, Optic atrophy, ... |
ORPHA:157850 |
Fanconi-Bickel Syndrome |
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Osteomalacia |
OMIM:227810 |
Mccune-Albright Syndrome |
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Recurrent fractures, Monostotic fibrous dysplasia, Fibrous dysplasia of the bones, Osteomalacia, ... |
ORPHA:562 |
Cockayne Syndrome B |
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Hepatomegaly, Decreased nerve conduction velocity, Splenomegaly, Micropenis, Pigmentary retinopat... |
OMIM:133540 |
Methylmalonic Acidemia With Homocystinuria, Type Cblc |
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Retinal degeneration, Abnormality of macular pigmentation, Pigmentary retinopathy, Optic atrophy,... |
ORPHA:79282 |
Lowry-Wood Syndrome |
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Pigmentary retinopathy |
OMIM:226960 |
Mucopolysaccharidosis Type 3 |
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Malabsorption, Hepatomegaly, Retinal degeneration, Rod-cone dystrophy, Splenomegaly, Macroglossia... |
ORPHA:581 |
X-Linked Hypophosphatemia |
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Reduced bone mineral density, Craniosynostosis, Arthritis, Vertebral hyperostosis, Generalized os... |
ORPHA:89936 |
Pearson Marrow-Pancreas Syndrome |
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Exocrine pancreatic insufficiency, Malabsorption, Hepatomegaly, Steatorrhea, Pancreatic fibrosis,... |
OMIM:557000 |
Rothmund-Thomson Syndrome, Type 2 |
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Annular pancreas, High palate, Premature graying of hair, Anteriorly placed anus, Hypogonadism, C... |
OMIM:268400 |
Fanconi-Bickel Syndrome |
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Osteopenia, Rickets |
ORPHA:2088 |
Congenital Bile Acid Synthesis Defect Type 2 |
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Rickets |
ORPHA:79303 |
Pancreatic Triacylglycerol Lipase Deficiency |
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Osteomalacia, Osteoporosis, Rickets |
ORPHA:309031 |
Trisomy 8P |
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Annular pancreas, Cleft palate, Micropenis, Malrotation of small bowel, Bifid uvula, Aplasia/Hypo... |
ORPHA:264450 |
Fryns Syndrome |
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