Leber Hereditary Optic Neuropathy, Modifier Of |
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Optic atrophy, Leber optic atrophy |
OMIM:308905 |
Retinitis Pigmentosa 57 |
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Optic disc pallor, Attenuation of retinal blood vessels, Cystoid macular edema, Rod-cone dystrophy |
OMIM:613582 |
Trypsinogen Deficiency |
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Hypoproteinemia |
OMIM:614044 |
Optic Atrophy 13 With Retinal And Foveal Abnormalities |
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Optic atrophy |
OMIM:165510 |
Enterokinase Deficiency |
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Hypoproteinemia |
OMIM:226200 |
Leber Congenital Amaurosis 13 |
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Bone spicule pigmentation of the retina, Optic disc pallor, Attenuation of retinal blood vessels,... |
OMIM:612712 |
Retinitis Pigmentosa 36 |
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Macular degeneration, Rod-cone dystrophy, Attenuation of retinal blood vessels, Optic disc pallor... |
OMIM:610599 |
Optic Atrophy--Spastic Paraplegia Syndrome |
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Optic atrophy |
OMIM:311100 |
Gastritis, Familial Giant Hypertrophic |
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Hypoproteinemia |
OMIM:137280 |
Friedreich Ataxia, So-Called, With Optic Atrophy And Sensorineural Deafness |
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Optic atrophy |
OMIM:136600 |
Macular Dystrophy With Central Cone Involvement |
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Optic disc pallor, Macular dystrophy, Bull's eye maculopathy |
OMIM:616170 |
Mu-Heavy Chain Disease |
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Increased circulating antibody level, Splenomegaly, Abnormal B cell count, Osteoporosis, Osteolys... |
ORPHA:100024 |
Optic Atrophy 5 |
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Optic atrophy |
OMIM:610708 |
Intracranial Hypertension, Idiopathic |
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Papilledema |
OMIM:243200 |
Glaucoma 1, Open Angle, P |
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Increased cup-to-disc ratio |
OMIM:177700 |
Optic Atrophy 2 |
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Optic atrophy |
OMIM:311050 |
Optic Atrophy, Hearing Loss, And Peripheral Neuropathy, Autosomal Dominant |
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Optic atrophy |
OMIM:165199 |
Metaphyseal Dysplasia, Anetoderma, And Optic Atrophy |
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Optic atrophy, Cranial nerve compression, Macular atrophy |
OMIM:250450 |
Retinitis Pigmentosa 71 |
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Perifoveal ring of hyperautofluorescence, Rod-cone dystrophy, Attenuation of retinal blood vessel... |
OMIM:616394 |
Rosaï-Dorfman Disease |
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Anemia, Osteolysis, Dysgammaglobulinemia |
ORPHA:158014 |
Hereditary Sensory And Autonomic Neuropathy Type 2 |
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Abnormal hip bone morphology, Reduced bone mineral density, Foot acroosteolysis, Tapered finger, ... |
ORPHA:970 |
Hyaline Fibromatosis Syndrome |
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Failure to thrive, Flexion contracture, Osteopenia, Osteoporosis, Osteolysis, Progressive flexion... |
OMIM:228600 |
Ocular Pigment Dispersion With Or Without Glaucoma |
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Optic atrophy |
OMIM:600510 |
Immunodeficiency 43 |
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Hypoalbuminemia, Hypoproteinemia |
OMIM:241600 |
Medial Condensing Osteitis Of The Clavicle |
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Limited shoulder movement, Patchy reduction of bone mineral density |
ORPHA:57196 |
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy |
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Hypoproteinemia |
OMIM:221400 |
Familial Expansile Osteolysis |
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Pathologic fracture, Osteolysis, Bowing of the long bones, Thin bony cortex |
OMIM:174810 |
Juvenile Hyaline Fibromatosis |
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Joint stiffness, Abnormal diaphysis morphology, Osteolysis, Progressive flexion contractures |
ORPHA:2028 |
Retinitis Pigmentosa 30 |
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Rod-cone dystrophy, Chorioretinal atrophy, Attenuation of retinal blood vessels, Optic atrophy, B... |
OMIM:607921 |
Leber Congenital Amaurosis 19 |
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Optic disc pallor, Attenuation of retinal blood vessels, Retinal degeneration |
OMIM:618513 |
Paget Disease Of Bone 4 |
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Osteolysis |
OMIM:606263 |
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B |
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Optic atrophy, Optic disc pallor, Peripheral axonal neuropathy |
OMIM:617087 |
Osteosarcoma |
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Abnormal femoral metaphysis morphology, Abnormal tibial metaphysis morphology, Pathologic fractur... |
ORPHA:668 |
Peripheral Cone Dystrophy |
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Optic atrophy, Peripheral retinal degeneration, Optic disc pallor, Cone/cone-rod dystrophy |
OMIM:609021 |
Retinitis Pigmentosa 38 |
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Optic disc pallor, Peripheral retinal atrophy, Rod-cone dystrophy, Macular atrophy |
OMIM:613862 |
Xanthoma Disseminatum |
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Osteolysis |
ORPHA:158003 |
Retinitis Pigmentosa 33 |
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Rod-cone dystrophy, Attenuation of retinal blood vessels, Retinal pigment epithelial atrophy, Opt... |
OMIM:610359 |
Autosomal Recessive Distal Osteolysis Syndrome |
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Short distal phalanx of finger, Osteolysis |
ORPHA:2776 |
Gorham-Stout Disease |
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Abnormality of femur morphology, Abnormal bone ossification, Abnormality of finger, Osteomyelitis... |
ORPHA:73 |
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy |
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Limitation of joint mobility, Cachexia, Camptodactyly of finger, Slender long bone, Abnormal epip... |
ORPHA:2774 |
Foveal Hypoplasia-Presenile Cataract Syndrome |
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Optic atrophy |
ORPHA:2253 |
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome |
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Hypoproteinemia, Chorioretinal coloboma |
ORPHA:1116 |
Retinitis Pigmentosa 63 |
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Optic disc pallor, Rod-cone dystrophy |
OMIM:614494 |
Dermatoosteolysis, Kirghizian Type |
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Split hand, Osteolysis, Joint contracture of the hand, Flexion contracture |
OMIM:221810 |
Enteropathy, Familial, With Villous Edema And Immunoglobulin G2 Deficiency |
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Hypoalbuminemia, Hypoproteinemia |
OMIM:600351 |
Optic Atrophy 3, Autosomal Dominant |
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Optic atrophy, Optic disc pallor |
OMIM:165300 |
Spastic Ataxia 7, Autosomal Dominant |
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Optic atrophy |
OMIM:108650 |
Eiken Syndrome |
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Delayed epiphyseal ossification, Epiphyseal dysplasia, Abnormal bone ossification, Metaphyseal ir... |
ORPHA:79106 |
Aplasia Cutis Congenita With Intestinal Lymphangiectasia |
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Hypoproteinemia |
OMIM:207731 |
Spastic Ataxia 4, Autosomal Recessive |
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Optic atrophy |
OMIM:613672 |
Retinitis Pigmentosa 70 |
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Optic disc pallor, Retinal degeneration, Rod-cone dystrophy |
OMIM:615922 |
Night Blindness, Congenital Stationary, Type 1G |
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Optic disc pallor, Congenital stationary night blindness, Rod-cone dystrophy |
OMIM:616389 |
Spastic Paraplegia 74, Autosomal Recessive |
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Optic atrophy, Peripheral axonal neuropathy |
OMIM:616451 |
Retinitis Pigmentosa 62 |
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Optic disc pallor, Rod-cone dystrophy |
OMIM:614181 |
Optic Atrophy 12 |
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Optic atrophy, Optic disc pallor |
OMIM:618977 |
Ollier Disease |
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Abnormal metaphysis morphology, Anemia, Osteolysis, Joint stiffness |
ORPHA:296 |
Spastic Paraplegia, Optic Atrophy, And Dementia |
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Optic atrophy, Optic disc pallor |
OMIM:182830 |
Wagner Vitreoretinopathy |
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Exudative vitreoretinopathy, Peripheral tractional retinal detachment, Chorioretinal atrophy, Vit... |
OMIM:143200 |
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis |
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Osteomyelitis, Arthritis, Abnormal epiphysis morphology, Osteolysis, Hyperostosis, Craniofacial o... |
ORPHA:324964 |
Cone-Rod Dystrophy 17 |
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Optic disc pallor, Cone/cone-rod dystrophy |
OMIM:615163 |
Ramon Syndrome |
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Failure to thrive, Osteolysis |
ORPHA:3019 |
Seizures, Cortical Blindness, And Microcephaly Syndrome |
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Optic atrophy |
OMIM:616632 |
Retinohepatoendocrinologic Syndrome |
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Optic disc pallor, Elevated circulating creatine kinase concentration, Cone dystrophy |
OMIM:268040 |
Lymphangiectasia, Intestinal |
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Neonatal hypoproteinemia |
OMIM:152800 |
Intellectual Developmental Disorder And Retinitis Pigmentosa |
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Optic disc pallor, Peripapillary atrophy, Macular degeneration |
OMIM:618195 |
Ribose 5-Phosphate Isomerase Deficiency |
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Optic atrophy, Increased level of D-threitol in plasma, Elevated circulating ribitol concentration |
OMIM:608611 |
Ceroid Lipofuscinosis, Neuronal, 9 |
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Optic atrophy, Rod-cone dystrophy |
OMIM:609055 |
Optic Atrophy With Demyelinating Disease Of Cns |
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Optic atrophy, Optic neuritis, Peripheral demyelination |
OMIM:165200 |
Retinitis Pigmentosa 28 |
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Bone spicule pigmentation of the retina, Optic disc pallor, Rod-cone dystrophy |
OMIM:606068 |
Hypocalcemic Vitamin D-Resistant Rickets |
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Recurrent fractures, Bone cyst, Abnormal hip bone morphology, Osteomalacia, Genu varum, Abnormal ... |
ORPHA:93160 |
Multiple Epiphyseal Dysplasia Type 1 |
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Delayed epiphyseal ossification, Coxa vara, Joint stiffness, Limitation of joint mobility, Finger... |
ORPHA:93308 |
Tenosynovial Giant Cell Tumor |
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Joint stiffness, Limitation of joint mobility, Osteolysis, Abnormal shoulder morphology, Localize... |
ORPHA:66627 |
Liberfarb Syndrome |
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Retinal pigment epithelial mottling, Optic disc pallor, Retinal degeneration, Bone spicule pigmen... |
OMIM:618889 |
Pseudoachondroplasia |
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Irregular carpal bones, Cone-shaped epiphysis, Hypoplasia of the capital femoral epiphysis, Irreg... |
ORPHA:750 |
Retinitis Pigmentosa 50 |
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Rod-cone dystrophy, Retinal detachment, Attenuation of retinal blood vessels, Retinal flecks, Opt... |
OMIM:613194 |
Pancreatic insufficiency, combined exocrine |
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Hypoproteinemia |
OMIM:260450 |
Optic Atrophy 6 |
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Optic atrophy |
OMIM:258500 |
Multiple Mitochondrial Dysfunctions Syndrome 4 |
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Optic atrophy |
OMIM:616370 |
Retinitis Pigmentosa 26 |
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Optic disc pallor, Attenuation of retinal blood vessels, Rod-cone dystrophy |
OMIM:608380 |
Aggressive Systemic Mastocytosis |
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Neutropenia, Abnormal mast cell morphology, Leukocytosis, Hepatosplenomegaly, Osteoporosis, Throm... |
ORPHA:98850 |
Retinitis Pigmentosa 11 |
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Perifoveal ring of hyperautofluorescence, Rod-cone dystrophy, Macular degeneration, Macular edema... |
OMIM:600138 |
Retinitis Pigmentosa 32 |
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Photoreceptor layer loss on macular OCT, Retinal degeneration, Attenuation of retinal blood vesse... |
OMIM:609913 |
Nephrotic Syndrome, Type 22 |
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Hypoproteinemia |
OMIM:619155 |
Nephrotic Syndrome, Type 1 |
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Hyperlipidemia, Hypoalbuminemia, Hypoproteinemia |
OMIM:256300 |
Birdshot Chorioretinopathy |
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Photoreceptor layer loss on macular OCT, Abnormal retinal vascular morphology, Macular hole, Cyst... |
ORPHA:179 |
Dermatoosteolysis, Kirghizian Type |
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Osteoarthritis, Brachydactyly, Osteolysis, Tarsal synostosis, Abnormal metaphysis morphology, Abn... |
ORPHA:1657 |
Keratoderma Hereditarium Mutilans |
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Osteolysis |
ORPHA:494 |
Ceroid Lipofuscinosis, Neuronal, 11 |
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Optic atrophy, Retinal dystrophy |
OMIM:614706 |
Paget Disease Of Bone 3 |
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Patchy osteosclerosis, Osteolysis, Fractures of the long bones |
OMIM:167250 |
Olivopontocerebellar Atrophy-Deafness Syndrome |
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Optic atrophy, Chorioretinal coloboma |
ORPHA:2732 |
Frank-Ter Haar Syndrome |
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Joint stiffness, Clinodactyly of the 5th finger, Camptodactyly of finger, Brachydactyly, Abnormal... |
ORPHA:137834 |
Osteogenesis Imperfecta-Retinopathy-Seizures-Intellectual Disability Syndrome |
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Optic atrophy |
ORPHA:2773 |
Brachyolmia Type 1, Hobaek Type |
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Sclerotic foci of metaphyses of the elbow, Osteopenia, Short femoral neck, Flattened proximal rad... |
OMIM:271530 |
Classic Hodgkin Lymphoma |
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Weight loss, Osteolysis, Splenomegaly |
ORPHA:391 |
Infantile-Onset Spinocerebellar Ataxia |
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Optic atrophy, Abnormality of the autonomic nervous system |
ORPHA:1186 |
Metaphyseal Chondrodysplasia, Schmid Type |
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Femoral bowing, Short long bone, Metaphyseal cupping of proximal phalanges, Metaphyseal irregular... |
ORPHA:174 |
Retinitis Pigmentosa 76 |
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Cystoid macular edema, Retinal thinning, Bone spicule pigmentation of the retina, Hyperautofluore... |
OMIM:617123 |
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia |
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Calvarial hyperostosis, Pathologic fracture, Abnormal long bone morphology, Osteolysis, Increased... |
ORPHA:52430 |
Congenital Analbuminemia |
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Hyperlipidemia, Hypoproteinemia, Increased alpha-globulin, Hypoalbuminemia, Hypercholesterolemia |
ORPHA:86816 |
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor |
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Rickets of the lower limbs, Delayed epiphyseal ossification, Sparse bone trabeculae, Metaphyseal ... |
OMIM:600785 |
Hemophagocytic Lymphohistiocytosis, Familial, 1 |
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Increased circulating ferritin concentration, Hypoproteinemia, Increased LDL cholesterol concentr... |
OMIM:267700 |
Retinitis Pigmentosa 88 |
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Cystoid macular edema, Macular degeneration, Attenuation of retinal blood vessels, Optic disc pal... |
OMIM:618826 |
Spasticity, Childhood-Onset, With Hyperglycinemia |
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Optic atrophy, Hyperglycinemia |
OMIM:616859 |
Cone-Rod Dystrophy 16 |
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Rod-cone dystrophy, Attenuation of retinal blood vessels, Cone/cone-rod dystrophy, Optic disc pal... |
OMIM:614500 |
Irvan Syndrome |
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Macular edema, Retinal detachment, Optic atrophy, Vitreous floaters, Tractional retinal detachmen... |
ORPHA:209943 |
Osteomyelitis, Sterile Multifocal, With Periostitis And Pustulosis |
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Periostitis, Osteomyelitis, Neutrophilia, Splenomegaly, Osteopenia, Abscess, Fused cervical verte... |
OMIM:612852 |
Felty Syndrome |
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Splenomegaly, Abnormal lymphocyte morphology, Arthritis, Osteolysis, Weight loss, Synovitis, Neut... |
ORPHA:47612 |
Gaucher Disease Type 1 |
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Increased circulating antibody level, Increased bone mineral density, Splenomegaly, Osteopenia, L... |
ORPHA:77259 |
Coloboma Of Optic Nerve |
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Retinal detachment, Optic disc coloboma |
OMIM:120430 |
Infantile Myofibromatosis |
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Abnormal metaphysis morphology, Bone cyst, Osteolysis, Limitation of joint mobility |
ORPHA:2591 |
Wolfram-Like Syndrome, Autosomal Dominant |
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Optic atrophy, Optic disc pallor |
OMIM:614296 |
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome |
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Optic atrophy, Abnormality of retinal pigmentation |
ORPHA:1574 |
Refractory Celiac Disease |
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Hypomagnesemia, Hypophosphatemia, Hypocalcemia, Hypoproteinemia, Hypoalbuminemia |
ORPHA:398063 |
Paget Disease Of Bone 2, Early-Onset |
|
Sclerosis of skull base, Short femur, Femoral bowing, Fractures of the long bones, Osteolysis, Bo... |
OMIM:602080 |
Citrullinemia Type Ii |
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Acute hyperammonemia, Hyperlipidemia, Hypoproteinemia, Decreased HDL cholesterol concentration, H... |
ORPHA:247585 |
Glaucoma 1, Open Angle, F |
|
Increased cup-to-disc ratio |
OMIM:603383 |
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum |
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Broad metacarpals, Osteopenia, Osteolysis involving bones of the lower limbs, Osteoporosis, Arthr... |
ORPHA:371428 |
Spondylometaphyseal Dysplasia, East African Type |
|
Coxa vara, Metaphyseal spurs, Metaphyseal widening, Brachydactyly, Genu varum, Rounded epiphyses,... |
OMIM:611702 |
Retinitis Pigmentosa 78 |
|
Optic disc pallor, Cystoid macular edema |
OMIM:617433 |
Ménétrier Disease |
|
Hypoalbuminemia, Hypoproteinemia |
ORPHA:2494 |
Desmoid Tumor |
|
Osteolysis, Limitation of joint mobility |
ORPHA:873 |
Usher Syndrome, Type 1M |
|
Optic disc pallor, Drusen |
OMIM:618632 |
Retinitis Pigmentosa 19 |
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Rod-cone dystrophy, Attenuation of retinal blood vessels, Retinal pigment epithelial atrophy, Opt... |
OMIM:601718 |
Retinal Dystrophy With Inner Retinal Dysfunction And Ganglion Cell Abnormalities |
|
Optic disc pallor, Retinal dystrophy |
OMIM:616079 |
Optic Atrophy 9 |
|
Optic atrophy |
OMIM:616289 |
Diastrophic Dysplasia |
|
Hip contracture, Small for gestational age, Costal cartilage calcification, Irregular epiphyses, ... |
OMIM:222600 |
Metaphyseal Dysplasia Without Hypotrichosis |
|
Metaphyseal irregularity, Cone-shaped epiphyses of the phalanges of the hand, Metaphyseal dysplas... |
OMIM:250460 |
Angioosteohypotrophic Syndrome |
|
Hypoplasia of the radius, Short humerus, Upper limb undergrowth, Abnormal trabecular bone morphol... |
ORPHA:75508 |
Maffucci Syndrome |
|
Recurrent fractures, Osteolysis |
ORPHA:163634 |
Autosomal Recessive Spastic Paraplegia Type 57 |
|
Optic atrophy, Abnormality of peripheral nerve conduction |
ORPHA:431329 |
Leber Congenital Amaurosis 4 |
|
Optic disc pallor, Attenuation of retinal blood vessels, Cone/cone-rod dystrophy, Macular atrophy |
OMIM:604393 |
Fibrous Dysplasia Of Bone |
|
Abnormality of femur morphology, Coxa vara, Fibrous dysplasia of the bones, Abnormal morphology o... |
ORPHA:249 |
Omenn Syndrome |
|
Hypoproteinemia |
OMIM:603554 |
Cerebellar Hypoplasia-Tapetoretinal Degeneration Syndrome |
|
Optic atrophy, Abnormality of retinal pigmentation |
ORPHA:2246 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6 |
|
Optic atrophy, Elevated circulating creatine kinase concentration, Retinal dysplasia |
OMIM:613154 |
Neurodegeneration With Brain Iron Accumulation |
|
Optic atrophy, Retinopathy |
ORPHA:385 |
Auditory Neuropathy And Optic Atrophy |
|
Optic atrophy, Rod-cone dystrophy |
OMIM:617717 |
Gamma-Heavy Chain Disease |
|
Splenomegaly, Rheumatoid arthritis, Autoimmune thrombocytopenia, Abnormal lymphocyte morphology, ... |
ORPHA:100026 |
Deafness, Sensorineural, With Peripheral Neuropathy And Arterial Disease |
|
Papilledema, Retinal arteriolar constriction |
OMIM:124950 |
Congenital Disorder Of Glycosylation, Type Ij |
|
Hypoproteinemia |
OMIM:608093 |
Pachydermoperiostosis |
|
Osteomyelitis, Splenomegaly, Small hand, Osteoporosis, Genu varum, Arthritis, Osteolysis, Abnorma... |
ORPHA:2796 |
Dengue Fever |
|
Hypoproteinemia |
ORPHA:99828 |
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy |
|
Hypoalbuminemia, Hypoproteinemia |
OMIM:226300 |
Hutchinson-Gilford Progeria Syndrome |
|
Generalized osteoporosis, Osteolysis |
OMIM:176670 |
Ceroid Lipofuscinosis, Neuronal, 7 |
|
Optic atrophy, Retinopathy, Pigmentary retinopathy |
OMIM:610951 |
Hemophagocytic Lymphohistiocytosis, Familial, 2 |
|
Increased circulating ferritin concentration, Hypoproteinemia, Hypertriglyceridemia, Increased to... |
OMIM:603553 |
Vitamin D Hydroxylation-Deficient Rickets, Type 1B |
|
Delayed epiphyseal ossification, Sparse bone trabeculae, Metaphyseal irregularity, Tibial bowing,... |
OMIM:600081 |
Dyssegmental Dysplasia With Glaucoma |
|
Delayed epiphyseal ossification, Wide anterior fontanel, Hip contracture, Flared metaphysis, Elbo... |
OMIM:601561 |
Macrophage Activation Syndrome |
|
Abnormality of tumor necrosis factor secretion, Increased circulating interleukin 6 concentration... |
ORPHA:158061 |
Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Hypocalcemia, Hypoproteinemia, Hyperammonemia, Elevated circulating creatine kinase concentration... |
ORPHA:26793 |
Central Retinal Vein Occlusion |
|
Cystoid macular edema, Macular degeneration, Papilledema, Macular edema, Retinal neovascularizati... |
ORPHA:411527 |
X-Linked Spinocerebellar Ataxia Type 3 |
|
Optic atrophy |
ORPHA:85297 |
Mental Retardation With Optic Atrophy, Deafness, And Seizures |
|
Optic atrophy |
OMIM:309555 |
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2 |
|
Optic atrophy, Optic disc pallor, Macular atrophy, Retinopathy |
OMIM:616171 |
Spinocerebellar Ataxia, Autosomal Recessive 12 |
|
Optic atrophy, Retinal degeneration |
OMIM:614322 |
Primary Intestinal Lymphangiectasia |
|
Hypomagnesemia, Hypocalcemia, Hypoalbuminemia, Hypoproteinemia |
ORPHA:90362 |
Nestor-Guillermo Progeria Syndrome |
|
Joint stiffness, Failure to thrive, Flexion contracture, Osteoporosis, Limited elbow movement, Pr... |
OMIM:614008 |
Retinitis Pigmentosa 86 |
|
Cystoid macular edema, Nummular pigmentation of the fundus, Attenuation of retinal blood vessels,... |
OMIM:618613 |
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A |
|
Peripheral axonal atrophy, Decreased sensory nerve conduction velocity, Onion bulb formation, Dec... |
OMIM:609260 |
Striatonigral Degeneration, Infantile |
|
Optic atrophy |
OMIM:271930 |
Chondrodysplasia Punctata, Tibia-Metacarpal Type |
|
Short tibia, Short 3rd metacarpal, Short 2nd metacarpal, Short 4th metacarpal, Short long bone, E... |
OMIM:118651 |
Usher Syndrome, Type Iiib |
|
Optic disc pallor |
OMIM:614504 |
Retinitis Pigmentosa 79 |
|
Optic disc pallor, Macular atrophy |
OMIM:617460 |
Charcot-Marie-Tooth Disease, X-Linked Recessive, 5 |
|
Segmental peripheral demyelination/remyelination, Onion bulb formation, Optic atrophy, Rod-cone d... |
OMIM:311070 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 3 |
|
Optic atrophy, Elevated circulating creatine kinase concentration |
OMIM:613151 |
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis |
|
Hip contracture, Advanced ossification of carpal bones, Flattened epiphysis, Short femoral neck, ... |
OMIM:618363 |
Familial Exudative Vitreoretinopathy |
|
Vitreous hemorrhage, Rhegmatogenous retinal detachment, Peripheral retinal avascularization, Chor... |
ORPHA:891 |
Retinitis Pigmentosa 1 |
|
Bone spicule pigmentation of the retina, Optic disc pallor, Attenuation of retinal blood vessels,... |
OMIM:180100 |
Kaposiform Lymphangiomatosis |
|
Abnormality of femur morphology, Splenomegaly, Fractures of the long bones, Hepatosplenomegaly, A... |
ORPHA:464329 |
Jalili Syndrome |
|
Optic disc pallor, Cone/cone-rod dystrophy |
OMIM:217080 |
Retinal Dystrophy And Obesity |
|
Retinal detachment, Peripapillary atrophy, Retinal dystrophy, Retinal pigment epithelial atrophy |
OMIM:616188 |
Spinocerebellar Ataxia, Autosomal Recessive 29 |
|
Retinal pigment epithelial mottling, Optic disc pallor, Peripheral axonal neuropathy |
OMIM:619389 |
Leber Hereditary Optic Neuropathy |
|
Optic atrophy, Retinal telangiectasia, Retinal vascular tortuosity |
ORPHA:104 |
Pseudoachondroplasia |
|
Fragmented epiphyses, Irregular carpal bones, Fragmented, irregular epiphyses, Small epiphyses of... |
OMIM:177170 |
Diffuse Cutaneous Systemic Sclerosis |
|
Osteolysis, Flexion contracture, Narrow foramen obturatorium, Arthritis |
ORPHA:220393 |
Merrf |
|
Optic atrophy |
ORPHA:551 |
Spastic Paraplegia 82, Autosomal Recessive |
|
Optic atrophy |
OMIM:618770 |
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly |
|
Hypocalcemia, Hypoproteinemia |
OMIM:235255 |
Mutilating Palmoplantar Keratoderma With Periorificial Keratotic Plaques |
|
Osteolysis, Ankylosis |
ORPHA:659 |
Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Short distal phalanx of finger, Flexion contracture, Acroosteolysis of distal phalanges (feet), O... |
ORPHA:90153 |
Occipital Horn Syndrome |
|
Osteopenia, Abnormality of the pubic bone, Humerus varus, Down-sloping shoulders, Abnormality of ... |
ORPHA:198 |
Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Short distal phalanx of finger, Abnormal fingertip morphology, Acroosteolysis of distal phalanges... |
ORPHA:90154 |
Leber Congenital Amaurosis 9 |
|
Retinal pigment epithelial mottling, Macular coloboma, Attenuation of retinal blood vessels, Opti... |
OMIM:608553 |
Gaucher Disease Type 3 |
|
Increased circulating antibody level, Increased bone mineral density, Splenomegaly, Osteolysis, I... |
ORPHA:77261 |
Cone-Rod Dystrophy, X-Linked, 3 |
|
Absent foveal reflex, Abnormality of macular pigmentation, Retinal detachment, Cone/cone-rod dyst... |
OMIM:300476 |
Mitochondrial Complex I Deficiency, Nuclear Type 34 |
|
Optic atrophy, Optic disc pallor |
OMIM:618776 |
Leber Congenital Amaurosis 2 |
|
Absent foveal reflex, Attenuation of retinal blood vessels, Pigmentary retinopathy, Fundus atroph... |
OMIM:204100 |
Cone-Rod Synaptic Disorder Syndrome, Congenital Nonprogressive |
|
Optic disc pallor, Retinal thinning |
OMIM:618970 |
Retinitis Pigmentosa 49 |
|
Bone spicule pigmentation of the retina, Optic disc pallor, Attenuation of retinal blood vessels,... |
OMIM:613756 |
Retinitis Pigmentosa 12 |
|
Bone spicule pigmentation of the retina, Optic disc pallor, Attenuation of retinal blood vessels,... |
OMIM:600105 |
Retinitis Pigmentosa 82 With Or Without Situs Inversus |
|
Optic disc pallor, Rod-cone dystrophy, Macular atrophy |
OMIM:615434 |
Johanson-Blizzard Syndrome |
|
Hypoproteinemia |
ORPHA:2315 |
Intellectual Developmental Disorder, X-Linked 101 |
|
Optic atrophy |
OMIM:300928 |
Hypophosphatemic Rickets With Hypercalciuria, Hereditary |
|
Delayed epiphyseal ossification, Hypophosphatemic rickets, Sparse bone trabeculae, Metaphyseal ir... |
OMIM:241530 |
Sapho Syndrome |
|
Recurrent fractures, Osteomyelitis, Arthritis, Osteolysis, Hyperostosis, Craniofacial osteosclero... |
ORPHA:793 |
Erdheim-Chester Disease |
|
Osteomyelitis, Increased bone mineral density, Abnormal epiphysis morphology, Osteolysis, Weight ... |
ORPHA:35687 |
Achondrogenesis Type 2 |
|
Abnormal bone ossification, Delayed proximal femoral epiphyseal ossification, Hypoplastic ilia, A... |
ORPHA:93296 |
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1 |
|
Abnormality of retinal pigmentation, Retinal detachment, Retinal dystrophy, Optic disc pallor, Re... |
OMIM:251270 |
Mixed Connective Tissue Disease |
|
Joint stiffness, Splenomegaly, Leukopenia, Arthritis, Hemolytic anemia, Osteolysis |
ORPHA:809 |
Nonarteritic Anterior Ischemic Optic Neuropathy, Susceptibility To |
|
Nonarteritic anterior ischemic optic neuropathy |
OMIM:258660 |
Lethal Recessive Chondrodysplasia |
|
Generalized osteosclerosis, Flared elbow metaphyses, Short long bone |
ORPHA:1423 |
Hajdu-Cheney Syndrome |
|
Short distal phalanx of finger, Recurrent fractures, Short toe, Failure to thrive, Splenomegaly, ... |
ORPHA:955 |
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency |
|
Elevated circulating creatine kinase concentration, Hypoproteinemia |
OMIM:615895 |
Early-Onset X-Linked Optic Atrophy |
|
Optic atrophy, Optic disc pallor, Decreased nerve conduction velocity |
ORPHA:98890 |
Osteoporosis-Macrocephaly-Blindness-Joint Hyperlaxity Syndrome |
|
Optic atrophy |
ORPHA:2787 |
Chromomycosis |
|
Osteolysis, Ankylosis |
ORPHA:182 |
Vitamin D Hydroxylation-Deficient Rickets, Type 1A |
|
Delayed epiphyseal ossification, Sparse bone trabeculae, Metaphyseal irregularity, Subperiosteal ... |
OMIM:264700 |
Osteosclerosis-Developmental Delay-Craniosynostosis Syndrome |
|
Optic atrophy, Facial palsy |
ORPHA:178377 |
Mitochondrial Complex I Deficiency, Nuclear Type 27 |
|
Optic atrophy |
OMIM:618248 |
Retinitis Pigmentosa 58 |
|
Macular degeneration, Rod-cone dystrophy, Attenuation of retinal blood vessels, Optic disc pallor... |
OMIM:613617 |
Retinitis Pigmentosa 46 |
|
Optic disc pallor, Attenuation of retinal blood vessels, Pigmentary retinopathy, Rod-cone dystrophy |
OMIM:612572 |
Cone-Rod Dystrophy 3 |
|
Attenuation of retinal blood vessels, Pigmentary retinopathy, Cone/cone-rod dystrophy, Optic disc... |
OMIM:604116 |
Pierson Syndrome |
|
Remnants of the hyaloid vascular system, Hypoproteinemia, Retinal detachment, Retinal hemorrhage,... |
OMIM:609049 |
H Syndrome |
|
Histiocytosis, Recurrent fractures, Hepatosplenomegaly, Camptodactyly, Osteolysis, Hallux valgus,... |
ORPHA:168569 |
Mesangial Sclerosis, Diffuse Renal, With Ocular Abnormalities |
|
Optic atrophy, Retinal arteriolar constriction |
OMIM:249660 |
Hypervitaminosis A, Susceptibility To |
|
Papilledema, Hypercalcemia |
OMIM:240150 |
Papillon-Lefèvre Syndrome |
|
Arachnodactyly, Osteolysis, Liver abscess, Recurrent cutaneous abscess formation |
ORPHA:678 |
Leber Congenital Amaurosis 14 |
|
Optic disc pallor, Rod-cone dystrophy, Retinal dystrophy |
OMIM:613341 |
Vulvovaginal Gingival Syndrome |
|
Abnormality of tumor necrosis factor secretion |
ORPHA:83453 |
Chédiak-Higashi Syndrome |
|
Increased circulating ferritin concentration, Abnormality of retinal pigmentation, Decreased nerv... |
ORPHA:167 |
Retinitis Pigmentosa 10 |
|
Rod-cone dystrophy, Attenuation of retinal blood vessels, Geographic atrophy, Optic disc pallor, ... |
OMIM:180105 |
Spondyloepimetaphyseal Dysplasia, Isidor-Toutain Type |
|
Coxa vara, Short long bone, Enlarged metaphyses, Irregular femoral epiphysis, Genu varum, Upper-l... |
OMIM:618728 |
Familial Hemophagocytic Lymphohistiocytosis |
|
Abnormality of tumor necrosis factor secretion, Increased circulating interleukin 6 concentration... |
ORPHA:540 |
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome |
|
Hypocalcemia, Hypoproteinemia |
ORPHA:1655 |
Odontochondrodysplasia 1 |
|
Cone-shaped epiphyses of the phalanges of the hand, Metaphyseal cupping, Delayed ossification of ... |
OMIM:184260 |
Retinitis Pigmentosa 41 |
|
Macular degeneration, Rod-cone dystrophy, Attenuation of retinal blood vessels, Pigmentary retino... |
OMIM:612095 |
Combined Hamartoma Of The Retina And Retinal Pigment Epithelium |
|
Retinal vascular tortuosity, Abnormal optic disc morphology, Vitreoretinopathy |
ORPHA:440727 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 8 |
|
Optic atrophy |
OMIM:619052 |
Hypophosphatemic Rickets, X-Linked Recessive |
|
Delayed epiphyseal ossification, Hypophosphatemic rickets, Sparse bone trabeculae, Metaphyseal ir... |
OMIM:300554 |
Gaucher Disease |
|
Increased circulating antibody level, Joint stiffness, Osteomyelitis, Recurrent fractures, Increa... |
ORPHA:355 |
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness |
|
Cone-shaped epiphyses of the phalanges of the hand, Delayed ossification of carpal bones, Narrow ... |
OMIM:609616 |
Coccidioidomycosis |
|
Osteomyelitis, Eosinophilia, Abscess, Abnormality of the spleen, Increased circulating IgG level,... |
ORPHA:228123 |
Spondylometaphyseal Dysplasia With Corneal Dystrophy |
|
Metaphyseal widening, Brachydactyly, Patent ductus arteriosus, Coarse metaphyseal trabecularizati... |
OMIM:618961 |
Florid Cemento-Osseous Dysplasia |
|
Abnormal bone structure, Multiple bony cystic lesions, Mandibular osteomyelitis, Abnormal trabecu... |
ORPHA:83451 |
Vitamin D-Dependent Rickets, Type 2A |
|
Delayed epiphyseal ossification, Sparse bone trabeculae, Metaphyseal irregularity, Subperiosteal ... |
OMIM:277440 |
Alpha-Mannosidosis, Infantile Form |
|
Joint stiffness, Cortical thickening of long bone diaphyses, Craniosynostosis, Osteopenia, Hepato... |
ORPHA:309282 |
Chime Syndrome |
|
Aplasia/Hypoplasia of the phalanges of the toes, Aplastic clavicle, Abnormal epiphysis morphology... |
ORPHA:3474 |
Null Syndrome |
|
Optic atrophy, Abnormality of peripheral nerve conduction, Decreased nerve conduction velocity, P... |
ORPHA:280234 |
Isolated Optic Nerve Hypoplasia/Aplasia |
|
Optic nerve hypoplasia, Peripheral vitreous opacities, Pseudopapilledema, Optic disc hypoplasia, ... |
ORPHA:137902 |
Spondyloepimetaphyseal Dysplasia Congenita, Strudwick Type |
|
Laryngotracheomalacia, Delayed ossification of carpal bones, Abnormally ossified vertebrae, Flare... |
ORPHA:93346 |
Retinitis Pigmentosa 74 |
|
Optic disc pallor, Pigmentary retinopathy, Rod-cone dystrophy |
OMIM:616562 |
Retinitis Pigmentosa 25 |
|
Rod-cone dystrophy, Chorioretinal atrophy, Attenuation of retinal blood vessels, Optic disc pallo... |
OMIM:602772 |
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome |
|
Hip contracture, Osteolysis involving bones of the lower limbs, Osteolysis, Thrombocytopenia, Ost... |
ORPHA:464321 |
Porphyria, Congenital Erythropoietic |
|
Joint contracture of the hand, Splenomegaly, Osteopenia, Pathologic fracture, Hemolytic anemia, O... |
OMIM:263700 |
Incontinentia Pigmenti |
|
Absent hand, Eosinophilia, Camptodactyly of finger, Deviation of finger, Spina bifida occulta, Os... |
ORPHA:464 |
Leber Congenital Amaurosis 16 |
|
Optic disc pallor |
OMIM:614186 |
Eales Disease |
|
Vitreous hemorrhage, Cystoid macular edema, Rhegmatogenous retinal detachment, Subhyaloid hemorrh... |
ORPHA:40923 |
Acute Lung Injury |
|
Abnormality of tumor necrosis factor secretion, Increased circulating interleukin 6 concentration... |
ORPHA:178320 |
Optic Atrophy 7 With Or Without Auditory Neuropathy |
|
Optic atrophy, Optic disc pallor |
OMIM:612989 |
Sweet Syndrome |
|
Abnormality of tumor necrosis factor secretion, Increased circulating interleukin 6 concentration... |
ORPHA:3243 |
Retinitis Pigmentosa 72 |
|
Rod-cone dystrophy, Attenuation of retinal blood vessels, Optic disc pallor, Bone spicule pigment... |
OMIM:616469 |
Adult Acute Respiratory Distress Syndrome |
|
Abnormality of tumor necrosis factor secretion, Increased circulating interleukin 6 concentration... |
ORPHA:70578 |
Papilloma Of Choroid Plexus |
|
Papilledema |
OMIM:260500 |
Multiple Sclerosis-Ichthyosis-Factor Viii Deficiency Syndrome |
|
Optic atrophy, Retrobulbar optic neuritis |
ORPHA:3151 |
Mitochondrial Dna Depletion Syndrome 16B (Neuroophthalmic Type) |
|
Optic atrophy, Peripheral axonal neuropathy |
OMIM:619425 |
Optic Atrophy 8 |
|
Optic atrophy, Abnormal auditory evoked potentials, Prolonged somatosensory evoked potentials |
OMIM:616648 |
Spondylometaphyseal Dysplasia, Schmidt Type |
|
Abnormality of the epiphysis of the femoral head, Coxa vara, Metaphyseal dysplasia, Narrow greate... |
ORPHA:93316 |
Opticocochleodentate Degeneration |
|
Optic atrophy |
OMIM:258700 |
Wildervanck Syndrome |
|
Pseudopapilledema |
OMIM:314600 |
Retinitis Pigmentosa 43 |
|
Rod-cone dystrophy, Attenuation of retinal blood vessels, Pigmentary retinopathy, Optic disc pall... |
OMIM:613810 |
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome |
|
Fibular metaphyseal irregularity, Short fourth metatarsal, Craniosynostosis, Osteopenia, Cone-sha... |
ORPHA:457395 |
Osteopetrosis, Autosomal Recessive 7 |
|
Decreased circulating IgA level, Decreased circulating IgG level, Splenomegaly, Osteopetrosis, De... |
OMIM:612301 |
Retinitis Pigmentosa 56 |
|
Rod-cone dystrophy, Attenuation of retinal blood vessels, Pigmentary retinopathy, Retinal pigment... |
OMIM:613581 |
Infantile-Onset Axonal Motor And Sensory Neuropathy-Optic Atrophy-Neurodegenerative Syndrome |
|
Abnormal peripheral action potential amplitude, Decreased nerve conduction velocity, Sensory axon... |
ORPHA:457205 |
Morning Glory Disc Anomaly |
|
Abnormality of retinal pigmentation, Retinal detachment, Optic disc coloboma |
ORPHA:35737 |
Sarcosinemia |
|
Optic atrophy, Hypersarcosinemia |
ORPHA:3129 |
Hypocalcemic Vitamin D-Dependent Rickets |
|
Delayed epiphyseal ossification, Sparse bone trabeculae, Subperiosteal bone resorption, Tibial bo... |
ORPHA:289157 |
Familial Dysautonomia |
|
Recurrent fractures, Osteolysis |
ORPHA:1764 |
Dent Disease 1 |
|
Delayed epiphyseal ossification, Sparse bone trabeculae, Metaphyseal irregularity, Tibial bowing,... |
OMIM:300009 |
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type |
|
Bowing of the legs, Metaphyseal spurs, Dysplastic iliac wing, Narrow greater sciatic notch, Femor... |
OMIM:608728 |
Leber Optic Atrophy |
|
Optic atrophy, Optic neuropathy, Central retinal vessel vascular tortuosity, Leber optic atrophy |
OMIM:535000 |
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type |
|
Metaphyseal cupping, Decreased cranial base ossification, Hypoplastic ilia, Hypoplastic pubic bon... |
OMIM:151210 |
Juvenile Glaucoma |
|
Optic neuropathy, Increased cup-to-disc ratio, Temporal optic disc pallor, Retinal arterial occlu... |
ORPHA:98977 |
Amaurosis-Hypertrichosis Syndrome |
|
Optic atrophy, Cone/cone-rod dystrophy, Retinal dystrophy |
ORPHA:1021 |
Retinitis Pigmentosa 14 |
|
Bone spicule pigmentation of the retina, Optic disc pallor, Retinal arteriolar constriction, Rod-... |
OMIM:600132 |
Brachydactyly, Type B1 |
|
Wide anterior fontanel, Joint contracture of the hand, Syndactyly, Type B brachydactyly, Aplasia/... |
OMIM:113000 |
Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Short clavicles, Flexion contracture, Acroosteolysis of distal phalanges (feet), Short phalanx of... |
OMIM:608612 |
Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome |
|
Hip contracture, Bone cyst, Flexion contracture, Osteolysis, Narrow iliac wing, Anemia |
ORPHA:3042 |
Proximal Myopathy With Extrapyramidal Signs |
|
Optic atrophy, Peripheral axonal neuropathy, Mildly elevated creatine kinase |
ORPHA:401768 |
Congenital Erythropoietic Porphyria |
|
Splenomegaly, Osteopenia, Anisocytosis, Leukopenia, Osteoporosis, Hemolytic anemia, Poikilocytosi... |
ORPHA:79277 |
Mitochondrial Complex I Deficiency, Nuclear Type 36 |
|
Hyperalaninemia, Optic disc pallor, Hyperprolinemia |
OMIM:619170 |
Retinal Dystrophy And Microvillus Inclusion Disease |
|
Optic disc pallor |
OMIM:619446 |
Chikungunya |
|
Joint stiffness, Periostitis, Arthritis, Osteolysis, Enthesitis, Stiff interphalangeal joints, Sy... |
ORPHA:324625 |
Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Short distal phalanx of finger, Joint stiffness, Short clavicles, Flexion contracture, Osteopenia... |
OMIM:248370 |
Hepatoerythropoietic Porphyria |
|
Splenomegaly, Osteopenia, Osteoporosis, Hemolytic anemia, Osteolysis, Erythroid hyperplasia |
ORPHA:95159 |
Encephalocraniocutaneous Lipomatosis |
|
Bone cyst, Osteolysis, Craniofacial hyperostosis |
ORPHA:2396 |
Autosomal Recessive Hypophosphatemic Rickets |
|
Rickets of the lower limbs, Pseudo-fractures, Hypophosphatemic rickets, Tibial bowing, Coxa vara,... |
ORPHA:289176 |
Spondyloepimetaphyseal Dysplasia, Shohat Type |
|
Delayed epiphyseal ossification, Metaphyseal irregularity, Bowing of the legs, Metaphyseal wideni... |
ORPHA:93352 |
Leber Congenital Amaurosis |
|
Abnormality of retinal pigmentation, Abnormal optic disc morphology |
ORPHA:65 |
Osteogenesis Imperfecta, Type Xvi |
|
Recurrent fractures, Small for gestational age, Osteopenia, Decreased calvarial ossification, Ang... |
OMIM:616229 |
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability |
|
Optic atrophy, Retinal detachment, Chorioretinal coloboma |
ORPHA:1473 |
Cryptococcosis |
|
Osteomyelitis, Osteolysis, Lymphoid leukemia |
ORPHA:1546 |
Mitochondrial Complex I Deficiency, Nuclear Type 33 |
|
Optic atrophy, Hyperammonemia |
OMIM:618253 |
Cholestasis With Gallstone, Ataxia, And Visual Disturbance |
|
Optic atrophy, Retinal degeneration |
OMIM:214980 |
Leber Congenital Amaurosis 15 |
|
Retinal degeneration, Rod-cone dystrophy, Retinopathy, Pigmentary retinopathy, Optic disc pallor |
OMIM:613843 |
Psoriasis-Related Juvenile Idiopathic Arthritis |
|
Abnormality of tumor necrosis factor secretion, Oligoarthritis, Finger dactylitis, Abnormal shoul... |
ORPHA:85436 |
Short Rib-Polydactyly Syndrome |
|
Cone-shaped epiphysis, Bowing of the long bones, Short long bone, Acetabular spurs, Metaphyseal s... |
ORPHA:1505 |
Rothmund-Thomson Syndrome Type 2 |
|
Short metacarpal, Metaphyseal sclerosis, Small for gestational age, Osteopenia, Synostosis involv... |
ORPHA:221016 |
Desbuquois Dysplasia 2 |
|
Epiphyseal dysplasia, Advanced ossification of carpal bones, Short clavicles, Toe clinodactyly, S... |
OMIM:615777 |
Autosomal Dominant Optic Atrophy Plus Syndrome |
|
Absent brainstem auditory responses, Temporal optic disc pallor, Abnormal retinal nerve fiber lay... |
ORPHA:1215 |
Mosaic Variegated Aneuploidy Syndrome |
|
Clinodactyly of the 5th finger, Acute lymphoblastic leukemia, Osteolysis |
ORPHA:1052 |
Rothmund-Thomson Syndrome Type 1 |
|
Short metacarpal, Metaphyseal sclerosis, Small for gestational age, Osteopenia, Aplastic anemia, ... |
ORPHA:221008 |
Kniest Dysplasia |
|
Abnormality of the epiphysis of the femoral head, Delayed epiphyseal ossification, Joint stiffnes... |
ORPHA:485 |
Mitochondrial Complex I Deficiency, Nuclear Type 28 |
|
Hyperalaninemia, Optic neuropathy, Optic atrophy |
OMIM:618249 |
Liver Disease, Severe Congenital |
|
Increased circulating ferritin concentration, Hypocalcemia, Hyperbilirubinemia, Hypoproteinemia, ... |
OMIM:619991 |
Spondyloepiphyseal Dysplasia Congenita |
|
Laryngotracheomalacia, Dysplasia of the femoral head, Reduced bone mineral density, Abnormally os... |
ORPHA:94068 |
Joubert Syndrome 28 |
|
Optic disc pallor, Pigmentary retinopathy |
OMIM:617121 |
Retinitis Pigmentosa 66 |
|
Bone spicule pigmentation of the retina, Optic disc pallor, Rod-cone dystrophy |
OMIM:615233 |
Rothmund-Thomson Syndrome |
|
Reduced bone mineral density, Small for gestational age, Osteopenia, Broad ulna, Aplasia/Hypoplas... |
ORPHA:2909 |
Gillessen-Kaesbach-Nishimura Syndrome |
|
Wide anterior fontanel, Narrow greater sciatic notch, Short long bone, Flexion contracture, Metap... |
OMIM:263210 |
Achondrogenesis, Type Ii |
|
Short tubular bones of the hand, Absent vertebral body mineralization, Hypoplastic iliac wing, Br... |
OMIM:200610 |
Spondyloepiphyseal Dysplasia-Brachydactyly And Distinctive Speech |
|
Delayed epiphyseal ossification, Short toe, Short long bone, Flexion contracture, Brachydactyly, ... |
OMIM:611717 |
Dyggve-Melchior-Clausen Disease |
|
Epiphyseal dysplasia, Metaphyseal dysplasia, Coxa vara, Failure to thrive, Abnormal hip bone morp... |
ORPHA:239 |
Coenzyme Q10 Deficiency, Primary, 2 |
|
Optic atrophy |
OMIM:614651 |
Glaucoma, Primary Closed-Angle |
|
Increased cup-to-disc ratio |
OMIM:618880 |
Jalili Syndrome |
|
Optic atrophy, Abnormality of retinal pigmentation |
ORPHA:1873 |
Wildervanck Syndrome |
|
Facial palsy, Pseudopapilledema |
ORPHA:3456 |
Metaphyseal Chondrodysplasia, Jansen Type |
|
Hip contracture, Clinodactyly of the 5th finger, Metaphyseal cupping, Osteopenia, Pathologic frac... |
OMIM:156400 |
Juvenile Paget Disease |
|
Optic atrophy, Abnormality of retinal pigmentation, Hyperuricemia |
ORPHA:2801 |
Achondroplasia |
|
Bowing of the legs, Wide anterior fontanel, Abnormal iliac wing morphology, Narrow greater sciati... |
ORPHA:15 |
Metaphyseal Dysostosis, Mental Retardation, And Conductive Deafness |
|
Metaphyseal irregularity, Broad phalanx, Metaphyseal dysplasia, Metaphyseal cupping, Coxa vara, M... |
OMIM:250420 |
Craniotelencephalic Dysplasia |
|
Optic atrophy, Septo-optic dysplasia |
ORPHA:1528 |
Retinitis Pigmentosa And Erythrocytic Microcytosis |
|
Photoreceptor layer loss on macular OCT, Retinal pigment epithelial atrophy, Decreased serum iron... |
OMIM:616959 |
Zygomycosis |
|
Splenic abscess, Osteolysis, Brain abscess, Neutropenia |
ORPHA:73263 |
Osteopetrosis, Autosomal Recessive 8 |
|
Optic atrophy, Facial palsy |
OMIM:615085 |
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type |
|
Short distal phalanx of finger, Metaphyseal irregularity, Tibial bowing, Abnormal bone ossificati... |
ORPHA:93315 |
Spastic Paraplegia, Optic Atrophy, And Neuropathy |
|
Optic atrophy, Optic disc pallor, Motor axonal neuropathy, Sensory axonal neuropathy |
OMIM:609541 |
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures |
|
Delayed proximal femoral epiphyseal ossification, Genu valgum, Hip subluxation, Short long bone, ... |
OMIM:271640 |
Gaisböck Syndrome |
|
Hyperproteinemia, Increased circulating renin level, Hypertriglyceridemia, Hyperuricemia, Hyperch... |
ORPHA:90041 |
Hemophagocytic Syndrome Associated With An Infection |
|
Increased circulating ferritin concentration, Hypertriglyceridemia, Hyperproteinemia |
ORPHA:158048 |
Osteopetrosis, Autosomal Recessive 4 |
|
Optic atrophy, Optic disc pallor, Facial palsy |
OMIM:611490 |
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome |
|
Optic atrophy, Optic disc pallor, Decreased number of peripheral myelinated nerve fibers, Periphe... |
ORPHA:320406 |
Schneckenbecken Dysplasia |
|
Metaphyseal irregularity, Advanced ossification of carpal bones, Brachydactyly, Hypoplastic scapu... |
OMIM:269250 |
Dermoid Cysts, Familial Frontonasal |
|
Papilledema |
OMIM:600679 |
Aniridia 2 |
|
Optic atrophy |
OMIM:617141 |
Dyssegmental Dysplasia, Rolland-Desbuquois Type |
|
Advanced ossification of carpal bones, Limitation of joint mobility, Joint contracture of the han... |
OMIM:224400 |
Multiple Myeloma |
|
Hyperproteinemia, Elevated circulating creatinine concentration, Hypercalcemia |
ORPHA:29073 |
Spondyloepimetaphyseal Dysplasia, X-Linked |
|
Broad phalanx, Cone-shaped epiphyses of the phalanges of the hand, Short long bone, Metaphyseal i... |
OMIM:300106 |
Aregenerative Anemia |
|
Abnormality of interleukin secretion, Abnormal proportion of CD8-positive T cells, Neutropenia, E... |
ORPHA:101096 |
Zika Virus Disease |
|
Absent foveal reflex, Retinal pigment epithelial mottling, Chorioretinal atrophy, Abnormal optic ... |
ORPHA:448237 |
Severe Early-Childhood-Onset Retinal Dystrophy |
|
Granular macular appearance, Abnormality of retinal pigmentation, Retinal degeneration, Rhegmatog... |
ORPHA:364055 |
Greenberg Dysplasia |
|
Anterior rib punctate calcifications, Tetraphocomelia, Fractured rib, Short long bone, Epiphyseal... |
OMIM:215140 |
Multiple Osteochondromas |
|
Abnormality of femur morphology, Limitation of knee mobility, Abnormal bone structure, Abnormalit... |
ORPHA:321 |
Leptospirosis |
|
Optic neuritis, Papilledema, Hyperproteinemia, Retinal hemorrhage, Chorioretinitis, Macular cotto... |
ORPHA:509 |
Sponastrime Dysplasia |
|
Genu valgum, Hip subluxation, Small epiphyses, Short long bone, Metaphyseal irregularity, Ivory e... |
ORPHA:93357 |
Alg12-Cdg |
|
Failure to thrive, Partial absence of specific antibody response to Haemophilus influenzae type b... |
ORPHA:79324 |
Dent Disease |
|
Delayed epiphyseal ossification, Sparse bone trabeculae, Metaphyseal irregularity, Bowing of the ... |
ORPHA:1652 |
Multiple Endocrine Neoplasia Type 1 |
|
Weight loss, Osteolysis, Increased susceptibility to fractures, Reduced bone mineral density |
ORPHA:652 |
Stuve-Wiedemann Syndrome 1 |
|
Femoral bowing, Ulnar deviation of finger, Contracture of the proximal interphalangeal joint of t... |
OMIM:601559 |
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia |
|
Dislocation of the femoral head, Delayed epiphyseal ossification, Metaphyseal irregularity, Flexi... |
OMIM:616007 |
Campomelic Dysplasia |
|
Poorly ossified cervical vertebrae, Recurrent fractures, Small abnormally formed scapulae, Tibial... |
ORPHA:140 |
Autosomal Recessive Spinocerebellar Ataxia-Blindness-Deafness Syndrome |
|
Elevated alpha-fetoprotein, Optic atrophy, Mildly elevated creatine kinase |
ORPHA:95433 |
17Q11 Microdeletion Syndrome |
|
Bowing of the legs, Osteopenia, Osteoporosis, Osteolysis, Diaphyseal dysplasia, Thickened cortex ... |
ORPHA:97685 |
Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive |
|
Epiphyseal dysplasia, Short metacarpal, Flexion contracture, Flared metaphysis, Short phalanx of ... |
OMIM:215150 |
Metaphyseal Dysostosis-Intellectual Disability-Conductive Deafness Syndrome |
|
Bowing of the legs, Broad phalanx, Metaphyseal dysplasia, Metaphyseal widening, Flared metaphysis... |
ORPHA:2502 |
Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction |
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Optic atrophy, Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy |
OMIM:268315 |
Spondylometaphyseal Dysplasia, Sedaghatian Type |
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Cone-shaped metacarpal epiphyses, Delayed epiphyseal ossification, Cone-shaped epiphyses of the p... |
OMIM:250220 |
Hypermobile Ehlers-Danlos Syndrome |
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Limitation of joint mobility, Osteoarthritis, Osteolysis, Hip dislocation, Joint hyperflexibility |
ORPHA:285 |
Pseudoaminopterin Syndrome |
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Overlapping toe, Clinodactyly of the 5th toe, Slender finger, Postaxial polydactyly, Clinodactyly... |
ORPHA:221120 |
Mucolipidosis Iii Alpha/Beta |
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Irregular carpal bones, Soft tissue swelling of interphalangeal joints, Craniosynostosis, Shallow... |
OMIM:252600 |
Geleophysic Dysplasia 1 |
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Joint stiffness, Coxa valga, Joint contracture of the hand, Osteopenia, Camptodactyly of finger, ... |
OMIM:231050 |
Pyknoachondrogenesis |
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Sclerosis of skull base, Abnormal iliac wing morphology, Poorly ossified vertebrae, Hypoplastic i... |
ORPHA:3003 |
Car T Cell Therapy-Associated Cytokine Release Syndrome |
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Abnormality of serum cytokine level, Abnormality of interleukin secretion, Increased serum interf... |
ORPHA:542323 |
Mucolipidosis Ii Alpha/Beta |
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Craniosynostosis, Osteopenia, Bullet-shaped phalanges of the hand, Varus deformity of humeral nec... |
OMIM:252500 |
Atelosteogenesis Type I |
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Short femur, Abnormal ossification involving the femoral head and neck, Brachydactyly, Absent or ... |
ORPHA:1190 |
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly |
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Metaphyseal irregularity, Metaphyseal dysplasia, Metaphyseal cupping, Radial bowing, Femoral bowi... |
OMIM:618019 |
Infection-Related Hemolytic Uremic Syndrome |
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Increased circulating interleukin 6 concentration, Leukocytosis, Brain abscess, Hemolytic anemia,... |
ORPHA:544482 |
Campomelic Dysplasia |
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Poorly ossified cervical vertebrae, Femoral bowing, Short 1st metacarpal, Bowing of the long bone... |
OMIM:114290 |
Juvenile Polyposis Syndrome |
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Hypoproteinemia |
ORPHA:2929 |
Combined Oxidative Phosphorylation Deficiency 29 |
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Optic atrophy, Retinopathy, Optic neuropathy, Axonal degeneration |
OMIM:616811 |
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome |
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Metaphyseal irregularity, Coxa vara, Bowing of the legs, Metaphyseal spurs, Short metacarpal, Nar... |
ORPHA:85167 |
Frank-Ter Haar Syndrome |
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Wide anterior fontanel, Osteopenia, Flared metaphysis, Osteoporosis, Short phalanx of finger, Cam... |
OMIM:249420 |
Atypical Werner Syndrome |
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Failure to thrive, Decreased body weight, Increased bone mineral density, Reduced bone mineral de... |
ORPHA:79474 |
Spondylometaphyseal Dysplasia, Algerian Type |
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Coxa vara, Hypoplasia of proximal radius, Metaphyseal dysplasia, Short tubular bones of the hand,... |
OMIM:184253 |
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type |
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Broad metacarpals, Bowing of the legs, Broad phalanx, Short metacarpal, Flared iliac wing, Triang... |
OMIM:271665 |
Hutchinson-Gilford Progeria Syndrome |
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Joint stiffness, Short clavicles, Limitation of movement at ankles, Reduced bone mineral density,... |
ORPHA:740 |
Microphthalmia With Limb Anomalies |
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Sandal gap, Bowing of the long bones, Short long bone, Clinodactyly of the 5th finger, Synostosis... |
ORPHA:1106 |
Wolfram Syndrome 2 |
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Optic atrophy, Optic neuropathy |
OMIM:604928 |
Short-Rib Thoracic Dysplasia 20 With Polydactyly |
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Wide anterior fontanel, Narrow greater sciatic notch, Postaxial polydactyly, Preaxial polydactyly... |
OMIM:617925 |
Hyperoxaluria, Primary, Type I |
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Optic neuropathy, Retinopathy, Optic atrophy, Hyperoxaluria, Choroidal neovascularization, Retina... |
OMIM:259900 |
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly |
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Acetabular spurs, Absent tibia, Metaphyseal spurs, Postaxial polydactyly, Preaxial polydactyly, F... |
OMIM:613091 |
Vascular Ehlers-Danlos Syndrome |
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Congenital hip dislocation, Osteoarthritis, Osteolysis, Joint hyperflexibility |
ORPHA:286 |
Norrie Disease |
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Optic atrophy, Retinal detachment, Retinal dysplasia, Retinal fold |
OMIM:310600 |
Idiopathic Anterior Uveitis |
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Macular edema, Increased cup-to-disc ratio |
ORPHA:280914 |
Kenny-Caffey Syndrome, Type 2 |
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Hypocalcemia, Papilledema, Retinal calcification, Hyperphosphatemia, Transient hypophosphatemia |
OMIM:127000 |
Peroxisome Biogenesis Disorder 1B |
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Optic atrophy, Hyperoxaluria, Rod-cone dystrophy |
OMIM:601539 |
Temtamy Preaxial Brachydactyly Syndrome |
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Optic atrophy, Abnormal optic disc morphology |
ORPHA:363417 |
Hypogonadotropic Hypogonadism-Severe Microcephaly-Sensorineural Hearing Loss-Dysmorphism Syndrome |
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Congenital stationary night blindness, Abnormal optic disc morphology |
ORPHA:293967 |
Cog1-Cdg |
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Failure to thrive, Osteopenia, Hepatosplenomegaly, Flat acetabular roof, Coxa valga, Short long bone |
ORPHA:263508 |
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy |
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Subretinal deposits, Abnormal optic disc morphology, Retinal dystrophy |
ORPHA:397715 |
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome |
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Retinal coloboma, Optic nerve hypoplasia, Facial palsy, Abnormal optic disc morphology |
ORPHA:508498 |
7Q11.23 Microduplication Syndrome |
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Abnormal optic disc morphology |
ORPHA:96121 |