Granulomas, Congenital Cerebral |
|
Neonatal death |
OMIM:306300 |
Genitourinary Tract Anomalies |
|
Neonatal death |
OMIM:305690 |
Hemoglobin D Disease |
|
Decreased mean corpuscular volume, Abnormal hemoglobin, HbS hemoglobin, Splenomegaly, Reduced alp... |
ORPHA:90039 |
Cataract 20, Multiple Types |
|
Membranous cataract, Cataract |
OMIM:116100 |
Hereditary Hyperferritinemia-Cataract Syndrome |
|
Cataract |
ORPHA:163 |
Cataract 29 |
|
Cataract |
OMIM:115800 |
Cataract 35 |
|
Cataract |
OMIM:609376 |
Cataract 36 |
|
Cataract |
OMIM:613887 |
Cataract 18 |
|
Cataract |
OMIM:610019 |
Hemoglobin-Delta locus |
|
Anemia, Imbalanced hemoglobin synthesis |
OMIM:142000 |
Spondyloepiphyseal Dysplasia With Atlantoaxial Instability |
|
Lumbar hyperlordosis, Atlantoaxial dislocation, Os odontoideum, Spondylolysis, Atlantoaxial insta... |
OMIM:600561 |
Hypertrophic Neuropathy And Cataract |
|
Cataract |
OMIM:239900 |
Nemaline Myopathy 9 |
|
Micrognathia, Respiratory insufficiency, Scoliosis, Arthrogryposis multiplex congenita |
OMIM:615731 |
Hemoglobin E-Beta-Thalassemia Syndrome |
|
Anemia, Abnormal hemoglobin |
ORPHA:231249 |
Cataract And Congenital Ichthyosis |
|
Cataract |
OMIM:212400 |
Pyknoachondrogenesis |
|
Stillbirth |
OMIM:265880 |
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant |
|
Kyphosis, Flexion contracture, Micrognathia, Congenital hip dislocation, Scoliosis, Arthrogryposi... |
OMIM:618291 |
Congenital Arthrogryposis With Anterior Horn Cell Disease |
|
Kyphosis, Retrognathia, Micrognathia, Microcephaly, Short neck, Scoliosis, Neonatal death, Arthro... |
OMIM:611890 |
Aniridia 3 |
|
Cataract |
OMIM:617142 |
Spondylometaphyseal Dysplasia, X-Linked |
|
Enlarged joints, Kyphosis, Sclerosis of skull base, Hip contracture, Hyperextensibility of the fi... |
OMIM:313420 |
Thalassemia, Beta+, Silent Allele |
|
Reduced beta/alpha synthesis ratio |
OMIM:187550 |
Foveal Hypoplasia-Presenile Cataract Syndrome |
|
Optic atrophy, Cataract |
ORPHA:2253 |
Corneal Dystrophy, Groenouw Type I |
|
Nodular corneal dystrophy, Granular corneal dystrophy, Cataract, Punctate corneal dystrophy |
OMIM:121900 |
Fetal Hemoglobin Quantitative Trait Locus 1 |
|
Persistence of hemoglobin F |
OMIM:141749 |
Beta-Thalassemia, Dominant Inclusion Body Type |
|
Splenomegaly, Persistence of hemoglobin F, Erythrocyte inclusion bodies, Microcytic anemia, Decre... |
OMIM:603902 |
Hemoglobin H Disease |
|
Reduced alpha/beta synthesis ratio, Hemolytic anemia, HbH hemoglobin, Splenomegaly |
OMIM:613978 |
Lethal Osteosclerotic Bone Dysplasia |
|
Respiratory distress, Retrognathia, Micrognathia, Delayed cranial suture closure, Short neck, Mic... |
ORPHA:1832 |
Delta-Beta-Thalassemia |
|
Anemia, Microcytic anemia, Abnormal hemoglobin |
ORPHA:231237 |
Hemoglobin C-Beta-Thalassemia Syndrome |
|
Anemia, Microcytic anemia, Abnormal hemoglobin, Splenomegaly |
ORPHA:231242 |
Acetophenetidin Sensitivity |
|
Hemolytic anemia, Methemoglobinemia |
OMIM:200300 |
Hydrocephaly-Cerebellar Agenesis Syndrome |
|
Cataract |
ORPHA:1397 |
Congenital Muscular Dystrophy, Ullrich Type |
|
Torticollis, Kyphosis, Spinal rigidity, Flexion contracture, Increased laxity of fingers, Microgn... |
ORPHA:75840 |
Cataract 12, Multiple Types |
|
Developmental cataract, Progressive cataract |
OMIM:611597 |
Iris Pigment Layer, Cleavage Of |
|
Peripheral retinal detachment, Cataract |
OMIM:147610 |
Hemoglobin E Disease |
|
Hypochromia, Anemia of inadequate production, Abnormal hemoglobin, Decreased mean corpuscular vol... |
ORPHA:2133 |
Pulmonary Hypoplasia, Primary |
|
Neonatal death |
OMIM:265430 |
Aldh18A1-Related De Barsy Syndrome |
|
Cataract |
ORPHA:35664 |
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome |
|
Anemia, Abnormal hemoglobin, Thrombocytopenia, Splenomegaly |
ORPHA:231393 |
Arthrogryposis, Distal, With Mental Retardation And Characteristic Facies |
|
Distal arthrogryposis, Respiratory insufficiency, Respiratory failure, Arthrogryposis multiplex c... |
OMIM:208081 |
Hemolytic Anemia Due To Glutathione Reductase Deficiency |
|
Fava bean-induced hemolytic anemia, Cataract |
OMIM:618660 |
Optic Atrophy 3, Autosomal Dominant |
|
Optic atrophy, Optic disc pallor, Cataract |
OMIM:165300 |
Trichomegaly |
|
Cataract |
OMIM:190330 |
Hernia, Anterior Diaphragmatic |
|
Neonatal death |
OMIM:306950 |
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A |
|
Reduced vital capacity, Limited knee flexion/extension, Respiratory insufficiency, Limited elbow ... |
ORPHA:266 |
Methemoglobinemia, Beta Type |
|
Methemoglobinemia |
OMIM:617971 |
Methemoglobinemia, Alpha Type |
|
Methemoglobinemia |
OMIM:617973 |
Metatropic Dysplasia |
|
Enlarged joints, Kyphosis, Kyphoscoliosis, Relatively short spine, Flexion contracture, Respirato... |
OMIM:156530 |
Megalocornea |
|
Lens subluxation, Mosaic corneal dystrophy, Megalocornea, Retinal detachment, Astigmatism, Iridod... |
OMIM:309300 |
Nathalie Syndrome |
|
Cataract |
ORPHA:2663 |
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
|
Persistence of hemoglobin F, Anemia, Splenomegaly |
ORPHA:46532 |
Hyperekplexia 4 |
|
Kyphoscoliosis, Flexion contracture, Camptodactyly, Distal arthrogryposis, Respiratory failure |
OMIM:618011 |
Cataract-Microcornea Syndrome |
|
Corneal opacity, Microcornea, Iris coloboma, Cataract, Corneal dystrophy |
ORPHA:1377 |
Congenital Muscular Dystrophy With Intellectual Disability |
|
Multiple joint contractures, Respiratory insufficiency, Microcephaly, Scoliosis, Neuropathic spin... |
ORPHA:370968 |
Neutropenia, Severe Congenital, 9, Autosomal Dominant |
|
3-Methylglutaconic aciduria, Cataract, Splenomegaly |
OMIM:619813 |
Ectopia Lentis Et Pupillae |
|
Retinal detachment, Cataract, Ectopia lentis, Persistent pupillary membrane |
OMIM:225200 |
Retinitis Pigmentosa 84 |
|
Macular coloboma, Cataract, Macular atrophy |
OMIM:618220 |
Galactosemia Ii |
|
Cataract, Galactosuria |
OMIM:230200 |
Myopathy, Areflexia, Respiratory Distress, And Dysphagia, Early-Onset |
|
Respiratory distress, Respiratory insufficiency, Camptodactyly of finger, Scoliosis, Restrictive ... |
OMIM:614399 |
Alpha-Thalassemia Myelodysplasia Syndrome |
|
HbH hemoglobin, Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia |
OMIM:300448 |
Anterior Segment Dysgenesis 8 |
|
Microphakia, Ectopia pupillae, Uveal ectropion, Optic nerve dysplasia, Hypoplasia of the iris, Ca... |
OMIM:617319 |
Fibrodysplasia Ossificans Progressiva |
|
Ectopic ossification in tendon tissue, Respiratory insufficiency, Scoliosis, Ectopic ossification... |
OMIM:135100 |
Thanatophoric Dysplasia, Glasgow Variant |
|
Anemia, Hepatosplenomegaly, Cataract |
OMIM:273680 |
Myopathy, Mitochondrial Progressive, With Congenital Cataract And Developmental Delay |
|
Cataract, Developmental cataract |
OMIM:613076 |
Muscular Dystrophy, Congenital, 1B |
|
Respiratory failure, Spinal rigidity, Achilles tendon contracture |
OMIM:604801 |
Mental Retardation, Truncal Obesity, Retinal Dystrophy, And Micropenis Syndrome |
|
Cataract, Micropenis |
OMIM:610156 |
Intellectual Developmental Disorder And Retinitis Pigmentosa |
|
Peripapillary atrophy, Optic disc pallor, Cataract, Macular degeneration |
OMIM:618195 |
Congenital Amegakaryocytic Thrombocytopenia |
|
Anemia, Abnormal hemoglobin, Thrombocytopenia |
ORPHA:3319 |
Pontocerebellar Hypoplasia, Type 1C |
|
Respiratory insufficiency, Respiratory failure, Flexion contracture |
OMIM:616081 |
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome |
|
Scoliosis, Tremor, Recurrent aspiration pneumonia, Respiratory failure, Respiratory insufficiency... |
ORPHA:2590 |
Galactosemia Iv |
|
Cataract |
OMIM:618881 |
Multiple Epiphyseal Dysplasia Type 5 |
|
Joint stiffness, Decreased hip abduction, Back pain, Osteoarthritis of the small joints of the ha... |
ORPHA:93311 |
Myopia, High, With Cataract And Vitreoretinal Degeneration |
|
Retinal detachment, Lens subluxation, Cataract |
OMIM:614292 |
Krabbe Disease, Atypical, Due To Saposin A Deficiency |
|
Respiratory insufficiency, Respiratory failure, Death in infancy, Central apnea |
OMIM:611722 |
Vacterl Association With Hydrocephalus |
|
Stillbirth, Radial club hand, Respiratory insufficiency, Abnormality of the vertebral column, Abn... |
OMIM:276950 |
Cataract 47 |
|
Glycosuria, Cataract, Microcornea |
OMIM:612018 |
Aniridia-Intellectual Disability Syndrome |
|
Optic nerve hypoplasia, Cataract, Ectopia lentis, Aniridia |
ORPHA:1068 |
Cataract 9, Multiple Types |
|
Progressive cataract, Microcornea, Iris coloboma, Cataract, Developmental cataract |
OMIM:604219 |
Pontocerebellar Hypoplasia, Type 4 |
|
Microcephaly, Congenital contracture, Respiratory failure, Death in infancy |
OMIM:225753 |
Cataract 21, Multiple Types |
|
Cerulean cataract, Retinal detachment, Microcornea, Cortical pulverulent cataract, Iris coloboma |
OMIM:610202 |
Coats Disease |
|
Abnormal anterior chamber morphology, Aplasia/Hypoplasia of the iris, Cataract, Retinal detachment |
ORPHA:190 |
Mitochondrial Dna Depletion Syndrome, Myopathic Form |
|
Respiratory distress, Respiratory insufficiency, Scoliosis, Recurrent pneumonia, Ventilator depen... |
ORPHA:254875 |
Spinal Muscular Atrophy, Type I |
|
Death in childhood, Respiratory insufficiency, Respiratory failure |
OMIM:253300 |
Hypoalphalipoproteinemia, Primary, 2 |
|
Cataract, Corneal arcus |
OMIM:618463 |
Aniridia 2 |
|
Lens subluxation, Optic atrophy, Iris coloboma, Cataract, Aniridia |
OMIM:617141 |
Cyanosis, Transient Neonatal |
|
Methemoglobinemia, Reticulocytosis, Anemia |
OMIM:613977 |
Hereditary Motor And Sensory Neuropathy, Okinawa Type |
|
Aspiration pneumonia, Cough, Respiratory failure requiring assisted ventilation, Tremor, Dyspnea,... |
ORPHA:90117 |
Nemaline Myopathy 8 |
|
Respiratory failure, Death in infancy, Flexion contracture |
OMIM:615348 |
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome |
|
Remnants of the hyaloid vascular system, Iris coloboma, Posterior lenticonus, Microcornea |
ORPHA:231736 |
Myopia 28, Autosomal Recessive |
|
Retinal detachment, Cataract |
OMIM:619781 |
Cataract-Nephropathy-Encephalopathy Syndrome |
|
Renal tubular dysfunction, Cataract |
ORPHA:1380 |
Myopathy, Myofibrillar, Fatal Infantile Hypertonic, Alpha-B Crystallin-Related |
|
Apnea, Respiratory insufficiency, Respiratory failure, Flexion contracture |
OMIM:613869 |
Morm Syndrome |
|
Cataract, Retinal atrophy, Micropenis |
ORPHA:75858 |
Atelosteogenesis, Type Ii |
|
Lacunar halos around chondrocytes, Lumbar hyperlordosis, Increased intervertebral space, Horizont... |
OMIM:256050 |
Chorea, Remitting, With Nystagmus And Cataract |
|
Cataract |
OMIM:601372 |
Microphthalmia, Isolated, With Coloboma 3 |
|
Iris coloboma, Cataract |
OMIM:610092 |
Cataract 1, Multiple Types |
|
Nuclear cataract, Posterior subcapsular cataract, Microcornea, Pulverulent cataract, Developmenta... |
OMIM:116200 |
Diamond-Blackfan Anemia 3 |
|
Increased mean corpuscular volume, Persistence of hemoglobin F, Macrocytic anemia, Reticulocytope... |
OMIM:610629 |
Developmental And Epileptic Encephalopathy 71 |
|
Respiratory insufficiency, Respiratory failure |
OMIM:618328 |
Multiple Mitochondrial Dysfunctions Syndrome 3 |
|
Retrognathia, Microcephaly, Respiratory insufficiency, Arthrogryposis multiplex congenita, Respir... |
OMIM:615330 |
3-Methylglutaconic Aciduria, Type Viii |
|
Apnea, Tremor, Death in infancy, Secondary microcephaly, Respiratory failure, Dystonia |
OMIM:617248 |
Rhizomelic Chondrodysplasia Punctata, Type 1 |
|
Kyphoscoliosis, Flexion contracture, Micrognathia, Respiratory insufficiency, Microcephaly, Coron... |
OMIM:215100 |
Alg1-Cdg |
|
Kyphosis, Scoliosis, Progressive microcephaly, Respiratory failure, Limitation of joint mobility |
ORPHA:79327 |
Reese Retinal Dysplasia |
|
Remnants of the hyaloid vascular system, Retinal dysplasia |
OMIM:266400 |
Alpha-Thalassemia |
|
Abnormal hemoglobin, Splenomegaly, Hemolytic anemia, Microcytic anemia, Anemia, Hypersplenism |
ORPHA:846 |
Imperforate Oropharynx-Costovertebral Anomalies Syndrome |
|
Respiratory distress, Hemivertebrae, Abnormal form of the vertebral bodies, Dyspnea, Respiratory ... |
ORPHA:2759 |
Wagner Vitreoretinopathy |
|
Optic atrophy, Retinal pigment epithelial atrophy, Cataract, Peripheral tractional retinal detach... |
OMIM:143200 |
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome |
|
Kyphosis, Spinal rigidity, Microcephaly, Neuropathic spinal arthropathy, Dyspnea, Respiratory fai... |
ORPHA:352447 |
Retinitis Pigmentosa 40 |
|
Bone spicule pigmentation of the retina, Cataract |
OMIM:613801 |
Muscular Dystrophy, Duchenne Type |
|
Hamstring contractures, Flexion contracture, Scoliosis, Hyperlordosis, Restrictive ventilatory de... |
OMIM:310200 |
Mitochondrial Complex I Deficiency, Nuclear Type 30 |
|
Respiratory failure, Neonatal death |
OMIM:301021 |
Muscular Dystrophy, Congenital, With Infantile Cataract And Hypogonadism |
|
Cataract |
OMIM:254000 |
Cardioneuromyopathy With Hyaline Masses And Nemaline Rods |
|
Widening of cervical spinal canal, Cervical vertebral bodies with decreased anteroposterior diame... |
OMIM:606842 |
Stickler Syndrome Type 2 |
|
Corneal opacity, Retinal detachment, Cataract |
ORPHA:90654 |
Otopalatodigital Syndrome, Type Ii |
|
Wide anterior fontanel, Sclerosis of skull base, Stillbirth, Spondylolysis, Micrognathia, Respira... |
OMIM:304120 |
Hypophosphatasia, Adult |
|
Recurrent fractures, Chondrocalcinosis, Osteomalacia, Carious teeth, Pathologic fracture, Arthrop... |
OMIM:146300 |
Cataract 15, Multiple Types |
|
Nuclear cataract, Lamellar cataract, Cataract, Developmental cataract, Cortical cataract |
OMIM:615274 |
Vitreoretinal Degeneration, Snowflake Type |
|
Corneal guttata, Retinal detachment, Cataract, Snowflake vitreoretinal degeneration |
OMIM:193230 |
Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract |
|
Cataract, Microcornea, Aniridia |
OMIM:106230 |
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability |
|
Corneal opacity, Retinal detachment, Posterior embryotoxon, Hematuria, Optic atrophy, Iris colobo... |
ORPHA:1473 |
Glycine Encephalopathy With Normal Serum Glycine |
|
Apnea, Hip contracture, Genu recurvatum, Exaggerated startle response, Flexion contracture, Retro... |
OMIM:617301 |
Beta-Thalassemia |
|
Hypochromic microcytic anemia, Reduced beta/alpha synthesis ratio |
OMIM:613985 |
Retinitis Pigmentosa 37 |
|
Cystoid macular degeneration, Cataract, Pigmentary retinopathy |
OMIM:611131 |
Alpha-Thalassemia |
|
Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia |
OMIM:604131 |
Immunodeficiency 95 |
|
Respiratory distress, Recurrent viral pneumonia, Respiratory failure |
OMIM:619773 |
Fibrodysplasia Ossificans Progressiva |
|
Spinal rigidity, Respiratory insufficiency, Synostosis of joints, Ectopic ossification in ligamen... |
ORPHA:337 |
Exudative Vitreoretinopathy 6 |
|
Retinal detachment, Cataract |
OMIM:616468 |
Butyrylcholinesterase Deficiency |
|
Respiratory failure, Respiratory failure requiring assisted ventilation |
ORPHA:132 |
Fibuloulnar Aplasia Or Hypoplasia With Renal Abnormalities |
|
Micrognathia, Respiratory insufficiency, Respiratory failure, Neonatal death |
OMIM:228940 |
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy |
|
Iris coloboma, Retinal detachment, Cataract, Macular atrophy |
OMIM:212550 |
Retinitis Pigmentosa 9 |
|
Bone spicule pigmentation of the retina, Cataract, Macular atrophy |
OMIM:180104 |
Ceroid Lipofuscinosis, Neuronal, 10 |
|
Apnea, Respiratory insufficiency, Microcephaly, Neonatal death, Respiratory failure |
OMIM:610127 |
Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy |
|
Flexion contracture, Intention tremor, Scoliosis, Tremor, Respiratory failure |
OMIM:616505 |
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency |
|
Apnea, Respiratory failure, Dystonia, Death in infancy |
OMIM:616277 |
Osteogenesis Imperfecta, Type Iv |
|
Otosclerosis, Kyphosis, Recurrent fractures, Dentinogenesis imperfecta, Reduced bone mineral dens... |
OMIM:166220 |
Postsynaptic Congenital Myasthenic Syndromes |
|
Reduced vital capacity, Scoliosis, Thoracic kyphoscoliosis, Orthopnea, Restrictive ventilatory de... |
ORPHA:98913 |
Sandestig-Stefanova Syndrome |
|
Retrognathia, Prominent metopic ridge, Short neck, Camptodactyly, Primary microcephaly, Respirato... |
OMIM:618804 |
Alpha-Thalassemia-Myelodysplastic Syndrome |
|
Splenomegaly, Microcytic anemia, Neutropenia, HbH hemoglobin, Thrombocytopenia, Acute leukemia |
ORPHA:231401 |
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy |
|
Flexion contracture, Retrognathia, Microcephaly, Camptodactyly of finger, Death in infancy, Respi... |
ORPHA:1194 |
Oculopharyngeal Myopathy With Leukoencephalopathy 1 |
|
Tremor, Respiratory failure |
OMIM:618637 |
Crisponi Syndrome |
|
Kyphosis, Flexion contracture, Micrognathia, Respiratory insufficiency, Camptodactyly of finger, ... |
ORPHA:1545 |
Anemia, Congenital Dyserythropoietic, Type Iv |
|
Circulating nucleated red blood cells, Anemia of inadequate production, Micropenis, Splenomegaly,... |
OMIM:613673 |
Dermatosparaxis Ehlers-Danlos Syndrome |
|
Joint stiffness, Joint dislocation, Retrognathia, Micrognathia, Osteopenia, Scoliosis, Osteomalac... |
ORPHA:1901 |
Hypocalcemic Vitamin D-Resistant Rickets |
|
Recurrent fractures, Bone cyst, Joint dislocation, Scoliosis, Abnormal form of the vertebral bodi... |
ORPHA:93160 |
Alkaptonuria |
|
Kyphosis, Intervertebral disc degeneration, Limitation of knee mobility, Arthritis, Low back pain... |
OMIM:203500 |
Proximal Spinal Muscular Atrophy |
|
Multiple joint contractures, Flexion contracture, Scoliosis, Thoracic kyphosis, Recurrent aspirat... |
ORPHA:70 |
Intermediate Osteopetrosis |
|
Sandwich appearance of vertebral bodies, Dental malocclusion, Cortical sclerosis, Osteomyelitis, ... |
ORPHA:210110 |
Exfoliation Syndrome |
|
Lens subluxation, Anisocoria, Mydriasis, Pseudoexfoliation, Cataract, Phakodonesis, Pigment depos... |
OMIM:177650 |
Bruck Syndrome |
|
Kyphosis, Joint stiffness, Recurrent fractures, Respiratory insufficiency, Platyspondyly, Scolios... |
ORPHA:2771 |
Retinitis Pigmentosa 4 |
|
Cataract, Pigmentary retinopathy |
OMIM:613731 |
Caffey Disease |
|
Cortical thickening of long bone diaphyses, Periosteal thickening of long tubular bones, Calvaria... |
ORPHA:1310 |
Intermediate Nemaline Myopathy |
|
Respiratory failure, Arthrogryposis multiplex congenita, Flexion contracture, Multiple prenatal f... |
ORPHA:171433 |
Cataract 10, Multiple Types |
|
Posterior Y-sutural cataract, Developmental cataract, Zonular cataract |
OMIM:600881 |
Morning Glory Disc Anomaly |
|
Abnormality of retinal pigmentation, Cataract, Retinal detachment, Optic disc coloboma |
ORPHA:35737 |
Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Wide anterior fontanel, Hyperlordosis, Restrictive ventilatory defect, Cardiorespiratory arrest, ... |
ORPHA:26791 |
Sillence Syndrome |
|
Back pain, Intervertebral disc degeneration, Platyspondyly, Scoliosis, Camptodactyly, Abnormal ve... |
ORPHA:3168 |
Persistent Hyperplastic Primary Vitreous |
|
Corneal opacity, Remnants of the hyaloid vascular system, Shallow anterior chamber, Buphthalmos, ... |
ORPHA:91495 |
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome |
|
Micrognathia, Fractures of the long bones, Congenital hip dislocation, Scoliosis, Respiratory fai... |
ORPHA:496641 |
Spinal Muscular Atrophy With Congenital Bone Fractures 2 |
|
Flexion contracture, Arthrogryposis multiplex congenita, Neonatal respiratory distress, Respirato... |
OMIM:616867 |
Leber Congenital Amaurosis 16 |
|
Optic disc pallor, Cataract |
OMIM:614186 |
Radio-Renal Syndrome |
|
Respiratory distress, Chylothorax, Retrognathia, Micrognathia, Short neck, Abnormal form of the v... |
ORPHA:3015 |
Arthrogryposis Multiplex Congenita 6 |
|
Death in childhood, Neonatal death, Death in infancy, Arthrogryposis multiplex congenita, Respira... |
OMIM:619334 |
Cone-Rod Dystrophy 16 |
|
Bone spicule pigmentation of the retina, Optic disc pallor, Cataract, Macular atrophy |
OMIM:614500 |
Sickle Cell Anemia |
|
Increased mean corpuscular volume, Leukocytosis, Hypochromic anemia, Persistence of hemoglobin F,... |
ORPHA:232 |
Senior-Loken Syndrome |
|
Chronic kidney disease, Abnormality of retinal pigmentation, Nephronophthisis, Cataract, Stage 5 ... |
ORPHA:3156 |
Renal Hypodysplasia/Aplasia 4 |
|
Respiratory failure |
OMIM:619887 |
Combined Oxidative Phosphorylation Deficiency 51 |
|
Aspiration pneumonia, Respiratory failure, Neonatal respiratory distress |
OMIM:619057 |
Autosomal Recessive Hypophosphatemic Rickets |
|
Spinal canal stenosis, Rickets of the lower limbs, Pseudo-fractures, Hypophosphatemic rickets, In... |
ORPHA:289176 |
Congenital Neuronal Ceroid Lipofuscinosis |
|
Apnea, Central sleep apnea, Microcephaly, Neonatal respiratory distress, Respiratory failure |
ORPHA:168486 |
Multiple Mitochondrial Dysfunctions Syndrome 1 |
|
Respiratory insufficiency, Pulmonary arterial hypertension, Respiratory failure |
OMIM:605711 |
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia |
|
Respiratory insufficiency, Respiratory failure, Death in infancy |
OMIM:614299 |
Combined Oxidative Phosphorylation Deficiency 28 |
|
Respiratory failure |
OMIM:616794 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6 |
|
Optic atrophy, Cataract, Retinal dysplasia |
OMIM:613154 |
Asymmetric Short Stature Syndrome |
|
Lumbar scoliosis, Fused cervical vertebrae, Micrognathia |
OMIM:108450 |
Blindness-Scoliosis-Arachnodactyly Syndrome |
|
Microphakia, Abnormality of retinal pigmentation, Lens subluxation, Retinal detachment, Cataract |
ORPHA:171844 |
Coloboma, Ocular, Autosomal Dominant |
|
Corneal opacity, Remnants of the hyaloid vascular system, Optic disc coloboma, Peters anomaly, Op... |
OMIM:120200 |
Hereditary Motor And Sensory Neuropathy, Type Iic |
|
Scoliosis, Respiratory failure, Intercostal muscle weakness, Stridor, Obstructive sleep apnea |
OMIM:606071 |
Hypophosphatemic Rickets, Autosomal Recessive, 1 |
|
Hypophosphatemic rickets, Increased bone mineral density, Rickets, Craniosynostosis |
OMIM:241520 |
Oculocerebral Hypopigmentation Syndrome Of Preus |
|
Cataract, Hypochromic anemia |
OMIM:257790 |
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria) |
|
Death in childhood, Respiratory insufficiency, Neonatal death, Death in infancy, Neonatal respira... |
OMIM:245400 |
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor |
|
Rickets of the lower limbs, Delayed epiphyseal ossification, Sparse bone trabeculae, Genu varum, ... |
OMIM:600785 |
Cataract 3, Multiple Types |
|
Developmental cataract, Nuclear pulverulent cataract, Cerulean cataract, Sutural cataract |
OMIM:601547 |
Anterior Segment Dysgenesis 7 |
|
Buphthalmos, Microcornea, Cataract, Ocular anterior segment dysgenesis, Sclerocornea |
OMIM:269400 |
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome |
|
Corneal opacity, Aplasia/Hypoplasia of the iris, Cataract, Persistent pupillary membrane |
ORPHA:1067 |
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive |
|
Corneal opacity, Remnants of the hyaloid vascular system, Shallow anterior chamber, Buphthalmos, ... |
OMIM:221900 |
Polycystic Kidney, Cataract, And Congenital Blindness |
|
Hypoplasia of the retina, Microcoria, Polycystic kidney dysplasia, Cataract |
OMIM:263100 |
Cataract 14, Multiple Types |
|
Zonular cataract |
OMIM:601885 |
Congenital Fiber-Type Disproportion Myopathy |
|
Hip contracture, Kyphoscoliosis, Flexion contracture of finger, Ankle flexion contracture, Flexio... |
ORPHA:2020 |
Leber Congenital Amaurosis 8 |
|
Nummular pigmentation of the fundus, Pigmentary retinopathy, Keratoconus, Cataract, Macular coloboma |
OMIM:613835 |
Congenital Multicore Myopathy With External Ophthalmoplegia |
|
Flexion contracture, Scoliosis, Joint laxity, Pneumonia, Abnormal respiratory system physiology, ... |
ORPHA:98905 |
Peters Anomaly |
|
Subcapsular cataract, Central opacification of the cornea, Thinning of Descemet membrane, Opacifi... |
ORPHA:708 |
Scedosporiosis |
|
Sinusitis, Osteomyelitis, Pleural empyema, Cough, Pneumonia, Arthralgia/arthritis, Abnormal respi... |
ORPHA:449280 |
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type |
|
Respiratory failure, Generalized dystonia, Central sleep apnea, Obstructive sleep apnea |
ORPHA:70472 |
Asbestos Intoxication |
|
Oxygen desaturation on exertion, Reduced vital capacity, Hypoxemia, Nonproductive cough, Wheezing... |
ORPHA:2302 |
Triosephosphate Isomerase Deficiency |
|
Respiratory distress, Kyphosis, Respiratory insufficiency, Death in adolescence, Tremor, Death in... |
OMIM:615512 |
Vitamin D Hydroxylation-Deficient Rickets, Type 1A |
|
Recurrent fractures, Delayed epiphyseal ossification, Widely patent fontanelles and sutures, Spar... |
OMIM:264700 |
Hypophosphatemic Rickets, X-Linked Dominant |
|
Spinal canal stenosis, Hypophosphatemic rickets, Osteoarthritis, Osteomalacia, Enamel hypomineral... |
OMIM:307800 |
Microcornea, Rod-Cone Dystrophy, Cataract, And Posterior Staphyloma 1 |
|
Cataract, Microcornea |
OMIM:619082 |
Coloboma, Ocular, Autosomal Recessive |
|
Lens subluxation, Retinal coloboma, Optic disc coloboma, Iris coloboma, Cataract |
OMIM:216820 |
Vitamin D-Dependent Rickets, Type 2A |
|
Recurrent fractures, Delayed epiphyseal ossification, Widely patent fontanelles and sutures, Spar... |
OMIM:277440 |
Proximal Myotonic Myopathy |
|
Cataract |
ORPHA:606 |
Cataract-Intellectual Disability-Anal Atresia-Urinary Defects Syndrome |
|
Hypospadias, Hypoplasia of penis, Cataract, Aplasia/Hypoplasia of the lens |
ORPHA:1381 |
Cataract 5, Multiple Types |
|
Nuclear cataract, Zonular cataract, Anterior polar cataract, Lamellar cataract, Pulverulent cataract |
OMIM:116800 |
Lethal Congenital Contracture Syndrome 2 |
|
Micrognathia, Respiratory failure, Arthrogryposis multiplex congenita |
OMIM:607598 |
Autosomal Dominant Keratitis |
|
Keratitis, Hypoplastic iris stroma, Corneal neovascularization, Opacification of the corneal stro... |
ORPHA:2334 |
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy |
|
Flexion contracture, Respiratory insufficiency, Scoliosis, Hyperlordosis, Aspiration, Hypoventila... |
ORPHA:258 |
Loeys-Dietz Syndrome 6 |
|
Intervertebral disc degeneration, Scoliosis, Knee osteoarthritis, Hip osteoarthritis |
OMIM:619656 |
Osteopetrosis, Autosomal Recessive 5 |
|
Stillbirth, Increased bone mineral density, Decreased osteoclast count, Osteopetrosis, Micrognath... |
OMIM:259720 |
X-Linked Skeletal Dysplasia-Intellectual Disability Syndrome |
|
Thoracic hemivertebrae, Fused cervical vertebrae, Abnormal sacrum morphology, Scoliosis |
ORPHA:1436 |
Spinal Muscular Atrophy, Distal, Autosomal Recessive, 1 |
|
Camptodactyly of finger, Tachypnea, Inspiratory stridor, Ventilator dependence with inability to ... |
OMIM:604320 |
Vitamin D Hydroxylation-Deficient Rickets, Type 1B |
|
Recurrent fractures, Delayed epiphyseal ossification, Widely patent fontanelles and sutures, Spar... |
OMIM:600081 |
Leigh Syndrome |
|
Abnormal pattern of respiration, Respiratory insufficiency, Respiratory failure, Dystonia |
OMIM:256000 |
Combined Oxidative Phosphorylation Deficiency 52 |
|
Respiratory failure, Death in infancy |
OMIM:619386 |
Amoebic Keratitis |
|
Corneal perforation, Corneal ulceration, Abnormal cornea morphology, Abnormal anterior chamber mo... |
ORPHA:67043 |
Retinal Dystrophy And Iris Coloboma With Or Without Congenital Cataract |
|
Posterior synechiae of the anterior chamber, Iris coloboma, Retinal atrophy, Developmental cataract |
OMIM:616722 |
Hypocalcemic Vitamin D-Dependent Rickets |
|
Delayed epiphyseal ossification, Sparse bone trabeculae, Wide cranial sutures, Delayed eruption o... |
ORPHA:289157 |
Neu-Laxova Syndrome |
|
Opisthotonus, Flexion contracture, Retrognathia, Micrognathia, Osteopenia, Microcephaly, Scoliosi... |
ORPHA:2671 |
Anterior Segment Dysgenesis 2 |
|
Congenital aphakia, Corneal opacity, Microcornea, Peters anomaly, Cataract, Posterior synechiae o... |
OMIM:610256 |
Norrie Disease |
|
Corneal opacity, Shallow anterior chamber, Buphthalmos, Retinal detachment, Opacification of the ... |
OMIM:310600 |
Mental Retardation, Skeletal Dysplasia, And Abducens Palsy |
|
Thoracic hemivertebrae, Fused cervical vertebrae, Prominent metopic ridge, Scoliosis |
OMIM:309620 |
Staphylococcal Necrotizing Pneumonia |
|
Respiratory distress, Nonproductive cough, Pleural empyema, Acute infectious pneumonia, Tachypnea... |
ORPHA:36238 |
Severe Neurodegenerative Syndrome With Lipodystrophy |
|
Tremor, Respiratory failure, Limb dystonia |
ORPHA:363400 |
Pneumocystosis |
|
Hypoxemia, Nonproductive cough, Respiratory insufficiency, Interstitial pneumonitis, Acute infect... |
ORPHA:723 |
Hepatic Veno-Occlusive Disease |
|
Respiratory failure |
ORPHA:890 |
Fibrous Dysplasia Of Bone |
|
Fibrous dysplasia of the bones, Abnormal lumbar spine morphology, Scoliosis, Osteomalacia, Thin b... |
ORPHA:249 |
Beta-Thalassemia |
|
Abnormal hemoglobin, Splenomegaly, Microcytic anemia, Anemia, Thrombocytopenia |
ORPHA:848 |
Myopathy, Myofibrillar, 9, With Early Respiratory Failure |
|
Nocturnal hypoventilation, Respiratory failure, Reduced vital capacity, Achilles tendon contracture |
OMIM:603689 |
Avian Influenza |
|
Respiratory distress, Miscarriage, Nonproductive cough, Tachypnea, Cough, Pneumothorax, Productiv... |
ORPHA:454836 |
X-Linked Hypophosphatemia |
|
Craniosynostosis, Reduced bone mineral density, Genu varum, Arthritis, Vertebral hyperostosis, Ge... |
ORPHA:89936 |
Mitochondrial Complex I Deficiency, Nuclear Type 18 |
|
Respiratory failure, Death in infancy |
OMIM:618240 |
Combined Oxidative Phosphorylation Deficiency 4 |
|
Microcephaly, Respiratory failure, Death in infancy, Opisthotonus |
OMIM:610678 |
Hypophosphatemic Rickets With Hypercalciuria, Hereditary |
|
Recurrent fractures, Hypophosphatemic rickets, Widely patent fontanelles and sutures, Delayed epi... |
OMIM:241530 |
Oculocerebrofacial Syndrome, Kaufman Type |
|
Respiratory distress, Retrognathia, Micrognathia, Microcephaly, Dyspnea, Respiratory failure |
ORPHA:2707 |
Ciliary Dyskinesia, Primary, 5 |
|
Respiratory insufficiency due to defective ciliary clearance, Chronic rhinitis, Recurrent sinusit... |
OMIM:608647 |
Bone Marrow Failure Syndrome 6 |
|
Increased mean corpuscular volume, Lymphopenia, Persistence of hemoglobin F, Neutropenia, Anemia |
OMIM:618849 |
Methemoglobinemia And Ambiguous Genitalia |
|
Methemoglobinemia, Hypospadias, Micropenis |
OMIM:250790 |
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6 |
|
Ankle clonus, Respiratory failure |
OMIM:613954 |
Interstitial Pneumonitis, Desquamative, Familial |
|
Respiratory distress, Respiratory failure, Cough, Tachypnea |
OMIM:263000 |
Spinocerebellar Ataxia Type 1 |
|
Postural tremor, Respiratory failure, Dystonia |
ORPHA:98755 |
Wolfram Syndrome 1 |
|
Megaloblastic anemia, Hydroureter, Pigmentary retinopathy, Thrombocytopenia, Optic atrophy, Catar... |
OMIM:222300 |
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1B |
|
Flexion contracture, Fused thoracic vertebrae, Short neck, Scoliosis, Fused cervical vertebrae, T... |
OMIM:618469 |
Isolated Aniridia |
|
Peters anomaly, Cataract, Aniridia |
ORPHA:250923 |
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14 |
|
Flexion contracture of thumb, Miscarriage, Hemivertebrae, Short neck, Hypoplasia of the maxilla, ... |
ORPHA:96334 |
Frontometaphyseal Dysplasia 1 |
|
Craniosynostosis, Increased density of long bone diaphyses, Delayed eruption of teeth, Genu valgu... |
OMIM:305620 |
Anterior Segment Dysgenesis 1 |
|
Posterior polar cataract, Opacification of the corneal stroma, Microcornea, Peters anomaly, Ocula... |
OMIM:107250 |
Surfactant Metabolism Dysfunction, Pulmonary, 3 |
|
Respiratory distress, Apnea, Hypoxemia, Neonatal death, Tachypnea, Cough, Death in infancy, Neona... |
OMIM:610921 |
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii |
|
Abnormally ossified vertebrae, Retrognathia, Micrognathia, Osteopenia, Short neck, Osteomalacia, ... |
ORPHA:2636 |
Neurodegeneration, Childhood-Onset, With Progressive Microcephaly |
|
Opisthotonus, Microcephaly, Death in childhood, Primary microcephaly, Limb dystonia, Respiratory ... |
OMIM:619847 |
Oculopalatocerebral Syndrome |
|
Remnants of the hyaloid vascular system, Leukocoria |
OMIM:257910 |
Aneurysm-Osteoarthritis Syndrome |
|
Dental malocclusion, Spondylolisthesis, Osteoarthritis of the small joints of the hand, Intervert... |
ORPHA:284984 |
Hb Bart'S Hydrops Fetalis |
|
Anemia, Abnormal hemoglobin, Splenomegaly |
ORPHA:163596 |
Peroxisome Biogenesis Disorder 4A (Zellweger) |
|
Respiratory failure, Death in infancy, Epiphyseal stippling |
OMIM:614862 |
Hypophosphatemic Rickets, X-Linked Recessive |
|
Recurrent fractures, Hypophosphatemic rickets, Delayed epiphyseal ossification, Sparse bone trabe... |
OMIM:300554 |
Immunodeficiency 54 |
|
Microcephaly, Respiratory insufficiency, Respiratory failure |
OMIM:609981 |
Short Rib-Polydactyly Syndrome |
|
Acetabular spurs, Abnormal bone ossification, Reduced bone mineral density, Absent or minimally o... |
ORPHA:1505 |
Amyotrophic Lateral Sclerosis 12 With Or Without Frontotemporal Dementia |
|
Respiratory failure |
OMIM:613435 |
Neuromyelitis Optica Spectrum Disorder |
|
Respiratory failure |
ORPHA:71211 |
Surfactant Metabolism Dysfunction, Pulmonary, 2 |
|
Respiratory distress, Hypoxemia, Respiratory insufficiency, Interstitial pneumonitis, Reduced for... |
OMIM:610913 |
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Apnea, Respiratory insufficiency, Microcephaly, Elbow flexion contracture, Knee flexion contractu... |
OMIM:608836 |
Surfactant Metabolism Dysfunction, Pulmonary, 1 |
|
Apnea, Neonatal death, Tachypnea, Death in infancy, Neonatal respiratory distress, Dyspnea, Pulmo... |
OMIM:265120 |
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion |
|
Flexion contracture of finger, Flexion contracture, Retrognathia, Wrist flexion contracture, Camp... |
ORPHA:254528 |
Central Hypoventilation Syndrome, Congenital, 3 |
|
Central hypoventilation, Apnea, Respiratory failure |
OMIM:619483 |
Acute Interstitial Pneumonia |
|
Hypoxemia, Nonproductive cough, Crackles, Decreased DLCO, Tachypnea, Pleural effusion, Bronchiect... |
ORPHA:79126 |
Aniridia And Absent Patella |
|
Cataract, Aniridia |
OMIM:106220 |
Optic Nerve Hypoplasia, Bilateral |
|
Remnants of the hyaloid vascular system, Optic nerve aplasia, Optic nerve hypoplasia |
OMIM:165550 |
Glycogen Storage Disease Due To Acid Maltase Deficiency |
|
Respiratory distress, Sleep apnea, Flexion contracture, Respiratory insufficiency, Scoliosis, Ost... |
ORPHA:365 |
Acute Lung Injury |
|
Respiratory distress, Tachypnea, Pneumonia, Hypoxemia, Dyspnea, Respiratory failure |
ORPHA:178320 |
Primary Familial Polycythemia |
|
Polycythemia, Abnormal hemoglobin |
ORPHA:90042 |
Ear-Patella-Short Stature Syndrome |
|
Respiratory distress, Craniosynostosis, Retrognathia, Micrognathia, Camptodactyly of finger, Micr... |
ORPHA:2554 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 8 |
|
Death in childhood, Respiratory failure, Tachypnea |
OMIM:615838 |
Rajab Interstitial Lung Disease With Brain Calcifications 1 |
|
Reduced bone mineral density, Osteopenia, Respiratory insufficiency, Microcephaly, Scoliosis, Tac... |
OMIM:613658 |
Infantile Systemic Hyalinosis |
|
Joint stiffness, Recurrent fractures, Osteopenia, Camptodactyly of finger, Short neck, Osteomalac... |
ORPHA:2176 |
Autosomal Dominant Hypophosphatemic Rickets |
|
Tooth abscess, Osteomalacia, Rickets |
ORPHA:89937 |
Myhre Syndrome |
|
Joint stiffness, Respiratory insufficiency, Short neck, Enlarged vertebral pedicles, Platyspondyl... |
OMIM:139210 |
Alport Syndrome 2, Autosomal Recessive |
|
Nephrotic syndrome, Nephritis, Hematuria, Cataract, Corneal erosion, Proteinuria, Anterior lentic... |
OMIM:203780 |
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia |
|
Death in childhood, Death in adolescence, Osteoporosis, Rickets |
OMIM:560000 |
Hypophosphatemic Rickets, Autosomal Dominant |
|
Hypophosphatemic rickets, Osteomalacia, Rickets |
OMIM:193100 |
Mitochondrial Complex I Deficiency, Nuclear Type 10 |
|
Central hypoventilation, Apnea, Respiratory failure |
OMIM:618233 |
Severe Congenital Nemaline Myopathy |
|
Respiratory failure, Arthrogryposis multiplex congenita, Flexion contracture, Multiple prenatal f... |
ORPHA:171430 |
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase |
|
Methemoglobinemia, Polycythemia |
OMIM:250800 |
Costello Syndrome |
|
Wide anterior fontanel, Tracheomalacia, Hyperextensibility of the finger joints, Micrognathia, Re... |
OMIM:218040 |
Cataract 30, Multiple Types |
|
Diffuse nuclear cataract, Pulverulent cataract, Posterior polar cataract |
OMIM:116300 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2 |
|
Hip contracture, Flexion contracture, Micrognathia, Microcephaly, Short neck, Metopic synostosis,... |
OMIM:300868 |
Arterial Tortuosity Syndrome |
|
Respiratory distress, Craniosynostosis, Scoliosis, Cardiorespiratory arrest, Dyspnea, Hip disloca... |
ORPHA:3342 |
Pierson Syndrome |
|
Remnants of the hyaloid vascular system, Nephrotic syndrome, Diffuse mesangial sclerosis, Uveal e... |
OMIM:609049 |
Idiopathic Pulmonary Hemosiderosis |
|
Crackles, Cough, Restrictive ventilatory defect, Dyspnea, Respiratory failure |
ORPHA:99931 |
Infant Acute Respiratory Distress Syndrome |
|
Tachypnea, Pneumonia, Hypoxemia, Respiratory failure, Nasal flaring |
ORPHA:70587 |
Cholestasis, Progressive Familial Intrahepatic, 1 |
|
Osteopenia, Epistaxis, Rickets, Wheezing |
OMIM:211600 |
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 1 |
|
Torticollis, Death in childhood, Bradypnea, Tremor, Respiratory failure |
OMIM:617186 |
Mercury Poisoning |
|
Respiratory distress, Interstitial pneumonitis, Tremor, Dyspnea, Respiratory failure, Dystonia |
ORPHA:330021 |
Mccune-Albright Syndrome |
|
Dental malocclusion, Monostotic fibrous dysplasia, Recurrent fractures, Fibrous dysplasia of the ... |
ORPHA:562 |
Atypical Werner Syndrome |
|
Increased bone mineral density, Reduced bone mineral density, Intervertebral disc degeneration, M... |
ORPHA:79474 |
Adult Acute Respiratory Distress Syndrome |
|
Abnormal blood gas level, Pneumonia, Hypoxemia, Dyspnea, Respiratory failure |
ORPHA:70578 |
Peripartum Cardiomyopathy |
|
Asthma, Paroxysmal dyspnea, Crackles, Orthopnea, Dyspnea, Exertional dyspnea, Pulmonary arterial ... |
ORPHA:563 |
Dent Disease 1 |
|
Recurrent fractures, Delayed epiphyseal ossification, Sparse bone trabeculae, Osteomalacia, Thin ... |
OMIM:300009 |
Pulmonary Alveolar Microlithiasis |
|
Oxygen desaturation on exertion, Stippled calcification in carpal bones, Nonproductive cough, Res... |
ORPHA:60025 |
Primary Ciliary Dyskinesia |
|
Airway obstruction, Wheezing, Chronic rhinitis, Chronic sinusitis, Productive cough, Neonatal res... |
ORPHA:244 |
Fanconi Renotubular Syndrome 2 |
|
Osteopenia, Rickets |
OMIM:613388 |
Papillorenal Syndrome |
|
Nephrolithiasis, Chronic kidney disease, Lens luxation, Absence of renal corticomedullary differe... |
OMIM:120330 |
Brain-Lung-Thyroid Syndrome |
|
Respiratory distress, Asthma, Intention tremor, Microcephaly, Choreoathetosis, Recurrent pneumoni... |
ORPHA:209905 |
Hypophosphatemic Bone Disease |
|
Osteomalacia, Rickets |
OMIM:146350 |
Renal Dysplasia-Limb Defects Syndrome |
|
Respiratory distress, Micrognathia, Short neck, Neonatal death, Pneumothorax, Respiratory failure |
OMIM:266910 |
Cataract 31, Multiple Types |
|
Nuclear cataract, Posterior subcapsular cataract, Anterior subcapsular cataract |
OMIM:605387 |
Disorder Of Bile Acid Synthesis |
|
Rickets |
ORPHA:79168 |
Lowe Oculocerebrorenal Syndrome |
|
Kyphosis, Joint contracture of the hand, Camptodactyly of finger, Platyspondyly, Scoliosis, Osteo... |
OMIM:309000 |
3-Methylglutaconic Aciduria Type 7 |
|
Opisthotonus, Choreoathetosis, Primary microcephaly, Pneumothorax, Respiratory failure |
ORPHA:445038 |
Loeys-Dietz Syndrome 3 |
|
Dental malocclusion, Spondylolisthesis, Craniosynostosis, Intervertebral disc degeneration, Retro... |
OMIM:613795 |
Axial Osteomalacia |
|
Osteomalacia, Increased bone mineral density |
OMIM:109130 |
Niemann-Pick Disease, Type C2 |
|
Death in childhood, Respiratory insufficiency, Death in infancy, Neonatal respiratory distress, R... |
OMIM:607625 |
Snakebite Envenomation |
|
Epistaxis, Respiratory failure, Respiratory paralysis |
ORPHA:449285 |
Bile Acid Conjugation Defect 1 |
|
Rickets |
OMIM:619232 |
Chromosome 16Q12 Duplication Syndrome |
|
Retinal pigment epithelial mottling, Anisocoria, Cataract, Temporal optic disc pallor |
OMIM:619649 |
Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction |
|
Glycosuria, Renal Fanconi syndrome, Optic atrophy, Optic disc pallor, Cataract, Bone spicule pigm... |
OMIM:268315 |
Leigh Syndrome With Cardiomyopathy |
|
Respiratory distress, Apnea, Central hypoventilation, Respiratory failure, Dystonia |
ORPHA:70474 |
Infantile Krabbe Disease |
|
Respiratory distress, Ankle clonus, Respiratory failure, Opisthotonus |
ORPHA:206436 |
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly |
|
Respiratory distress, Respiratory failure |
OMIM:617895 |
Hartsfield Syndrome |
|
Microcephaly, Hypoplasia of the frontal bone, Craniosynostosis |
OMIM:615465 |
Beta-Thalassemia Intermedia |
|
Anemia of inadequate production, Decreased mean corpuscular volume, Leukocytosis, Splenomegaly, E... |
ORPHA:231222 |
Hypercholanemia, Familial 1 |
|
Rickets |
OMIM:607748 |
Listeriosis |
|
Respiratory distress, Osteomyelitis, Back pain, Miscarriage, Tremor, Pneumonia, Stiff neck, Respi... |
ORPHA:533 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 1 |
|
Respiratory distress, Death in childhood, Exertional dyspnea, Respiratory failure, Respiratory in... |
OMIM:220110 |
Combined Oxidative Phosphorylation Defect Type 23 |
|
Stridor, Paroxysmal dyspnea, Respiratory failure |
ORPHA:444013 |
Riddle Syndrome |
|
Microcephaly, Arthritis, Recurrent sinusitis, Chronic sinusitis, Recurrent pneumonia, Restrictive... |
ORPHA:420741 |
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities |
|
Aminoaciduria, Optic atrophy, Renal hypoplasia, Cataract, Hydronephrosis |
OMIM:617913 |
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome |
|
Vestibular areflexia, Respiratory failure, Head titubation |
ORPHA:3240 |
Leigh Syndrome |
|
Multiple joint contractures, Athetosis, Choreoathetosis, Abnormal pattern of respiration, Respira... |
ORPHA:506 |
Hereditary Hypophosphatemic Rickets With Hypercalciuria |
|
Pathologic fracture, Hypophosphatemic rickets, Osteomalacia, Reduced bone mineral density |
ORPHA:157215 |
Hereditary Methemoglobinemia |
|
Methemoglobinemia |
ORPHA:621 |
Amyotrophic Lateral Sclerosis |
|
Dyspnea, Abnormal respiratory system physiology, Respiratory failure |
ORPHA:803 |
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss |
|
Rickets |
OMIM:602722 |
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16 |
|
HbH hemoglobin, Hypospadias, Microcytic anemia |
ORPHA:98791 |
Occipital Horn Syndrome |
|
Kyphosis, Delayed cranial suture closure, Osteopenia, Platyspondyly, Scoliosis, Osteomalacia, Ost... |
ORPHA:198 |
Cataract 33, Multiple Types |
|
Cortical cataract, Lamellar cataract, Nuclear cataract |
OMIM:611391 |
Diamond-Blackfan Anemia 6 |
|
Increased mean corpuscular volume, Persistence of hemoglobin F, Macrocytic anemia |
OMIM:612561 |
Combined Oxidative Phosphorylation Deficiency 3 |
|
Respiratory insufficiency, Death in childhood, Tremor, Respiratory failure, Dystonia |
OMIM:610505 |
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome |
|
Respiratory insufficiency, Pulmonary arterial hypertension, Respiratory failure |
OMIM:613845 |
Renal Tubular Acidosis Iii |
|
Osteomalacia, Rickets |
OMIM:267200 |
Car T Cell Therapy-Associated Cytokine Release Syndrome |
|
Hypoxemia, Respiratory failure, Pleural effusion, Tachypnea |
ORPHA:542323 |
Digeorge Syndrome |
|
Asthma, Chronic pulmonary obstruction, Intervertebral disc degeneration, Micrognathia, Microcepha... |
OMIM:188400 |
Oculo-Palato-Cerebral Syndrome |
|
Remnants of the hyaloid vascular system, Retinal detachment, Cataract, Leukocoria |
ORPHA:2714 |
Deafness-Lymphedema-Leukemia Syndrome |
|
Respiratory failure |
ORPHA:3226 |
Aniridia 1 |
|
Corneal neovascularization, Ectopia pupillae, Optic nerve hypoplasia, Opacification of the cornea... |
OMIM:106210 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7 |
|
Remnants of the hyaloid vascular system, Optic nerve hypoplasia, Retinal detachment, Peters anoma... |
OMIM:614643 |
Abetalipoproteinemia |
|
Osteopenia, Kyphoscoliosis, Respiratory failure |
ORPHA:14 |
Oculocerebrorenal Syndrome Of Lowe |
|
Kyphosis, Joint swelling, Taurodontia, Joint stiffness, Recurrent fractures, Micrognathia, Respir... |
ORPHA:534 |
Blackfan-Diamond Anemia |
|
Increased mean corpuscular volume, Neutropenia, Persistence of hemoglobin F, Hypospadias, Leukope... |
ORPHA:124 |
Thoracic Dysplasia-Hydrocephalus Syndrome |
|
Respiratory insufficiency, Respiratory failure |
OMIM:273730 |
Nephronophthisis 2 |
|
Respiratory insufficiency, Respiratory failure |
OMIM:602088 |
Lethal Acantholytic Erosive Disorder |
|
Camptodactyly of toe, Respiratory failure, Natal tooth |
ORPHA:158687 |
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia |
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Rickets |
OMIM:611590 |
Atelosteogenesis Type Iii |
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Laryngotracheomalacia, Knee dislocation, Micrognathia, Respiratory insufficiency, Ulnar deviation... |
ORPHA:56305 |
Oculoauricular Syndrome |
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Microphakia, Retinal coloboma, Retinal detachment, Posterior embryotoxon, Microcornea, Iris colob... |
OMIM:612109 |
Fanconi Renotubular Syndrome 1 |
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Osteomalacia, Rickets |
OMIM:134600 |
Pelizaeus-Merzbacher Disease, Connatal Form |
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Titubation, Respiratory failure |
ORPHA:280210 |
Boutonneuse Fever |
|
Respiratory failure |
ORPHA:83313 |
S-Adenosylhomocysteine Hydrolase Deficiency |
|
Microcephaly, Respiratory failure |
ORPHA:88618 |
Renal Tubular Acidosis, Distal, 1 |
|
Osteomalacia, Pathologic fracture |
OMIM:179800 |
Poliomyelitis |
|
Stiff neck, Respiratory failure, Respiratory failure requiring assisted ventilation |
ORPHA:2912 |
Leiomyomatosis, Diffuse, With Alport Syndrome |
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Abnormal renal physiology, Nephropathy, Hematuria, Lenticonus, Cataract, Renal insufficiency, Pro... |
OMIM:308940 |
Beta-Thalassemia Major |
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Anemia of inadequate production, Decreased mean corpuscular volume, Splenomegaly, Extramedullary ... |
ORPHA:231214 |
Dominant Beta-Thalassemia |
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Decreased mean corpuscular volume, Splenomegaly, Extramedullary hematopoiesis, Anisocytosis, Pers... |
ORPHA:231226 |
Nijmegen Breakage Syndrome |
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Retrognathia, Microcephaly, Short neck, Recurrent pneumonia, Respiratory failure |
ORPHA:647 |
Dent Disease |
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Recurrent fractures, Delayed epiphyseal ossification, Sparse bone trabeculae, Osteomalacia, Thin ... |
ORPHA:1652 |
Fanconi Renotubular Syndrome 3 |
|
Rickets |
OMIM:615605 |
Hypophosphatemic Rickets |
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Joint stiffness, Fibrous dysplasia of the bones, Periapical tooth abscess, Osteomalacia, Patchy v... |
ORPHA:437 |
Mitochondrial Trifunctional Protein Deficiency |
|
Respiratory insufficiency, Respiratory failure |
OMIM:609015 |
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin |
|
Persistence of hemoglobin F, Astigmatism |
OMIM:619769 |
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset |
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Respiratory distress, Respiratory insufficiency, Respiratory failure requiring assisted ventilati... |
ORPHA:308552 |
Combined Oxidative Phosphorylation Deficiency 37 |
|
Respiratory insufficiency, Secondary microcephaly, Respiratory failure |
OMIM:618329 |
Respiratory Underresponsiveness To Hypoxia And Hypercapnia |
|
Respiratory insufficiency, Respiratory failure, Hypercapnia |
OMIM:267480 |
Microphthalmia With Linear Skin Defects Syndrome |
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Respiratory distress, Abnormal dental enamel morphology, Retrognathia, Micrognathia, Microcephaly... |
ORPHA:2556 |
Cystinosis |
|
Rickets |
ORPHA:213 |
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome |
|
Kyphoscoliosis, Lumbar hyperlordosis, Joint hypermobility, Hemivertebrae, Metopic synostosis, Sag... |
ORPHA:500150 |
Alpha-Thalassemia/Mental Retardation Syndrome, Chromosome 16-Related |
|
Micropenis, Reduced alpha/beta synthesis ratio, Hypospadias, Hypochromic microcytic anemia, HbH h... |
OMIM:141750 |
Ulbright-Hodes Syndrome |
|
Respiratory distress, Micrognathia, Short neck, Ovoid thoracolumbar vertebrae, Pneumothorax, Hume... |
ORPHA:3404 |
Thoracic Dysplasia-Hydrocephalus Syndrome |
|
Respiratory failure |
ORPHA:1861 |
Mitochondrial Trifunctional Protein Deficiency |
|
Respiratory insufficiency, Respiratory failure |
ORPHA:746 |
Shwachman-Diamond Syndrome 1 |
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Neutropenia, Persistence of hemoglobin F, Pancytopenia, Anemia, Thrombocytopenia, Nephrocalcinosi... |
OMIM:260400 |
Severe Generalized Junctional Epidermolysis Bullosa |
|
Respiratory distress, Stridor, Osteoporosis, Enamel hypoplasia, Pneumonia, Pneumothorax, Dyspnea,... |
ORPHA:79404 |
Celiac Disease, Susceptibility To, 1 |
|
Enamel hypoplasia, Osteoporosis, Rickets |
OMIM:212750 |
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome |
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Camptodactyly of finger, Hypoplasia of the maxilla, Hypoplasia of the frontal bone |
ORPHA:306542 |
Bloom Syndrome |
|
Chronic pulmonary obstruction, Retrognathia, Micrognathia, Pneumonia, Rhinitis, Respiratory failure |
ORPHA:125 |
Wilson Disease |
|
Hand tremor, Chondrocalcinosis, Osteoarthritis, Osteomalacia, Osteoporosis, Tremor, Limb dystonia... |
OMIM:277900 |
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Death in childhood, Respiratory insufficiency, Tachypnea, Respiratory failure, Dystonia |
OMIM:618278 |
Isolated Exencephaly |
|
Hypoplasia of the frontal bone |
ORPHA:563612 |
Nocardiosis |
|
Respiratory distress, Osteomyelitis, Nonproductive cough, Pneumothorax, Productive cough, Pneumon... |
ORPHA:31204 |
Hemorrhagic Fever-Renal Syndrome |
|
Respiratory distress, Back pain, Cough, Respiratory failure, Pneumonia, Pleural effusion, Dyspnea... |
ORPHA:340 |
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome |
|
Abnormal hemoglobin, Hypoplasia of penis, Optic atrophy, Hydronephrosis, Anemia |
ORPHA:847 |
Geleophysic Dysplasia 3 |
|
Dyspnea, Respiratory failure, Sleep apnea, Pneumonia |
OMIM:617809 |
Congenital Bile Acid Synthesis Defect Type 2 |
|
Rickets |
ORPHA:79303 |
Fanconi-Bickel Syndrome |
|
Osteopenia, Rickets |
ORPHA:2088 |
Mitochondrial Complex I Deficiency, Nuclear Type 1 |
|
Apnea, Respiratory insufficiency, Microcephaly, Death in infancy, Respiratory failure |
OMIM:252010 |
Thymoma |
|
Aplastic anemia, Imbalanced hemoglobin synthesis, Pure red cell aplasia, Glomerulonephritis, Leuk... |
ORPHA:99867 |
Bile Acid Synthesis Defect, Congenital, 1 |
|
Rickets |
OMIM:607765 |
Congenital Tricuspid Valve Dysplasia |
|
Hypoxemia, Respiratory failure requiring assisted ventilation, Respiratory failure, Tachypnea |
ORPHA:555874 |
Acquired Methemoglobinemia |
|
Methemoglobinemia |
ORPHA:464453 |
Lead Poisoning |
|
Renal tubular dysfunction, Chronic kidney disease, Tubulointerstitial nephritis, Imbalanced hemog... |
ORPHA:330015 |
Hypophosphatemic Rickets And Hyperparathyroidism |
|
Hypophosphatemic rickets, Rickets |
OMIM:612089 |
Hypocalciuric Hypercalcemia, Familial, Type Iii |
|
Chondrocalcinosis, Osteomalacia |
OMIM:600740 |
Distal Renal Tubular Acidosis |
|
Respiratory insufficiency due to muscle weakness, Reduced bone mineral density, Osteomalacia, Inc... |
ORPHA:18 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9 |
|
Respiratory failure |
OMIM:616538 |
Malignant Atrophic Papulosis |
|
Respiratory failure, Pleural effusion |
ORPHA:679 |
Alpha-Thalassemia/Mental Retardation Syndrome, X-Linked |
|
Micropenis, Reduced alpha/beta synthesis ratio, Hypospadias, Hypochromic microcytic anemia, Hydro... |
OMIM:301040 |
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young |
|
Rickets |
OMIM:616026 |
Niemann-Pick Disease Type C |
|
Axial dystonia, Aspiration pneumonia, Intention tremor, Respiratory insufficiency, Tremor, Limb d... |
ORPHA:646 |
Fanconi-Bickel Syndrome |
|
Osteomalacia |
OMIM:227810 |
Bickerstaff Brainstem Encephalitis |
|
Hypercapnia, Respiratory failure requiring assisted ventilation, Pneumonia, Dyspnea, Respiratory ... |
ORPHA:79138 |
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type |
|
Rickets |
OMIM:219900 |
Pancreatic Triacylglycerol Lipase Deficiency |
|
Osteomalacia, Osteoporosis, Rickets |
ORPHA:309031 |
Frontofacionasal Dysplasia |
|
Hypoplasia of the frontal bone |
OMIM:229400 |
Norrie Disease |
|
Corneal opacity, Remnants of the hyaloid vascular system, Abnormal pupil morphology, Anterior cha... |
ORPHA:649 |
Autosomal Recessive Polycystic Kidney Disease |
|
Micrognathia, Recurrent pneumonia, Hypoventilation, Spontaneous pneumothorax, Respiratory failure |
ORPHA:731 |
Generalized Arterial Calcification Of Infancy |
|
Respiratory distress, Hypophosphatemic rickets, Calcification of the auricular cartilage, Stipple... |
ORPHA:51608 |
Steinert Myotonic Dystrophy |
|
Respiratory insufficiency, Respiratory failure requiring assisted ventilation, Respiratory failur... |
ORPHA:273 |
Neurofibromatosis Type 2 |
|
Cortical cataract, Remnants of the hyaloid vascular system, Posterior subcapsular cataract |
ORPHA:637 |
Neuroocular Syndrome |
|
Remnants of the hyaloid vascular system, Blue irides, Stellate iris, Microcornea, Peters anomaly,... |
OMIM:619539 |
Familial Hypocalciuric Hypercalcemia |
|
Chondrocalcinosis, Osteomalacia |
ORPHA:405 |
Infantile Nephropathic Cystinosis |
|
Rickets |
ORPHA:411629 |
Tuberous Sclerosis Complex |
|
Respiratory distress, Respiratory failure |
ORPHA:805 |
Cystinosis, Nephropathic |
|
Genu valgum, Hypophosphatemic rickets, Rickets |
OMIM:219800 |
Microphthalmia, Syndromic 2 |
|
Remnants of the hyaloid vascular system, Hypospadias, Retinal detachment, Microcornea, Iris colob... |
OMIM:300166 |
Immunodeficiency 82 With Systemic Inflammation |
|
Joint swelling, Osteomyelitis, Osteomalacia, Arthritis, Pneumonia, Bronchiectasis |
OMIM:619381 |
Primary Fanconi Renotubular Syndrome |
|
Hypophosphatemic rickets, Osteomalacia, Increased susceptibility to fractures |
ORPHA:3337 |
Holoprosencephaly 2 |
|
Remnants of the hyaloid vascular system, Iris coloboma |
OMIM:157170 |