Granulomas, Congenital Cerebral |
|
Neonatal death |
OMIM:306300 |
Genitourinary Tract Anomalies |
|
Neonatal death |
OMIM:305690 |
Hemoglobin D Disease |
|
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A... |
ORPHA:90039 |
Hereditary Hyperferritinemia-Cataract Syndrome |
|
Cataract |
ORPHA:163 |
Cataract 29 |
|
Cataract |
OMIM:115800 |
Cataract 35 |
|
Cataract |
OMIM:609376 |
Cataract 36 |
|
Cataract |
OMIM:613887 |
Hemoglobin-Delta locus |
|
Imbalanced hemoglobin synthesis, Anemia |
OMIM:142000 |
Spondyloepiphyseal Dysplasia With Atlantoaxial Instability |
|
Joint laxity, Os odontoideum, Lumbar hyperlordosis, Spondylolisthesis at L5-S1, Atlantoaxial inst... |
OMIM:600561 |
Spondylometaphyseal Dysplasia, X-Linked |
|
Hyperextensibility of the finger joints, Hip contracture, Enlarged joints, Depressed nasal bridge... |
OMIM:313420 |
Reducing Body Myopathy, X-Linked 1A, Severe, With Infantile Or Early Childhood Onset |
|
Spinal rigidity, Respiratory insufficiency due to muscle weakness, Flexion contracture, Death in ... |
OMIM:300717 |
Hypertrophic Neuropathy And Cataract |
|
Cataract |
OMIM:239900 |
Hemoglobin E-Beta-Thalassemia Syndrome |
|
Abnormal hemoglobin, Anemia |
ORPHA:231249 |
Cataract And Congenital Ichthyosis |
|
Cataract |
OMIM:212400 |
Pyknoachondrogenesis |
|
Stillbirth |
OMIM:265880 |
Congenital Arthrogryposis With Anterior Horn Cell Disease |
|
Microcephaly, Micrognathia, Kyphosis, Short neck, Respiratory insufficiency due to muscle weaknes... |
OMIM:611890 |
Lethal Osteosclerotic Bone Dysplasia |
|
Respiratory distress, Anteverted nares, Micrognathia, Microcephaly, Short neck, Dyspnea, Depresse... |
ORPHA:1832 |
Thalassemia, Beta+, Silent Allele |
|
Reduced beta/alpha synthesis ratio |
OMIM:187550 |
Foveal Hypoplasia-Presenile Cataract Syndrome |
|
Cataract, Optic atrophy |
ORPHA:2253 |
Fetal Hemoglobin Quantitative Trait Locus 1 |
|
Persistence of hemoglobin F |
OMIM:141749 |
Corneal Dystrophy, Groenouw Type I |
|
Punctate corneal dystrophy, Cataract, Nodular corneal dystrophy, Granular corneal dystrophy |
OMIM:121900 |
Beta-Thalassemia, Dominant Inclusion Body Type |
|
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, Erythrocyte inclu... |
OMIM:603902 |
Hemoglobin H Disease |
|
Splenomegaly, Hemolytic anemia, Reduced alpha/beta synthesis ratio, HbH hemoglobin |
OMIM:613978 |
Delta-Beta-Thalassemia |
|
Abnormal hemoglobin, Anemia, Microcytic anemia |
ORPHA:231237 |
Cataract 42 |
|
Cataract, Developmental cataract |
OMIM:115900 |
Hydrocephaly-Cerebellar Agenesis Syndrome |
|
Cataract |
ORPHA:1397 |
Congenital Muscular Dystrophy, Ullrich Type |
|
Torticollis, Micrognathia, Short neck, Kyphosis, Spinal rigidity, Flexion contracture, Elbow flex... |
ORPHA:75840 |
Hemoglobin C-Beta-Thalassemia Syndrome |
|
Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia |
ORPHA:231242 |
Cataract 12, Multiple Types |
|
Progressive cataract, Developmental cataract |
OMIM:611597 |
Acetophenetidin Sensitivity |
|
Hemolytic anemia, Methemoglobinemia |
OMIM:200300 |
Neutropenia, Severe Congenital, 9, Autosomal Dominant |
|
Splenomegaly, 3-Methylglutaconic aciduria, Cataract |
OMIM:619813 |
Iris Pigment Layer, Cleavage Of |
|
Cataract, Peripheral retinal detachment |
OMIM:147610 |
Hemoglobin E Disease |
|
Drug-sensitive hemolytic anemia, Abnormal hemoglobin, Anemia of inadequate production, Splenomega... |
ORPHA:2133 |
Pulmonary Hypoplasia, Primary |
|
Neonatal death |
OMIM:265430 |
Optic Atrophy 3, Autosomal Dominant |
|
Optic disc pallor, Cataract, Optic atrophy |
OMIM:165300 |
Aldh18A1-Related De Barsy Syndrome |
|
Cataract |
ORPHA:35664 |
Hemolytic Anemia Due To Glutathione Reductase Deficiency |
|
Cataract, Fava bean-induced hemolytic anemia |
OMIM:618660 |
Cataract 50 With Or Without Glaucoma |
|
Retinal detachment, Cataract, Persistent pupillary membrane |
OMIM:620253 |
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome |
|
Anemia, Splenomegaly, Abnormal hemoglobin, Thrombocytopenia |
ORPHA:231393 |
Metatropic Dysplasia |
|
Relatively short spine, Enlarged joints, Depressed nasal bridge, Kyphoscoliosis, Abnormal enchond... |
OMIM:156530 |
Trichomegaly |
|
Cataract |
OMIM:190330 |
Hernia, Anterior Diaphragmatic |
|
Neonatal death |
OMIM:306950 |
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A |
|
Reduced vital capacity, Abnormal respiratory system physiology, Respiratory insufficiency, Limite... |
ORPHA:266 |
Nathalie Syndrome |
|
Cataract |
ORPHA:2663 |
Megalocornea |
|
Iridodonesis, Retinal detachment, Cataract, Mosaic corneal dystrophy, Deep anterior chamber, Iris... |
OMIM:309300 |
Methemoglobinemia, Beta Type |
|
Methemoglobinemia |
OMIM:617971 |
Methemoglobinemia, Alpha Type |
|
Methemoglobinemia |
OMIM:617973 |
Cataract-Microcornea Syndrome |
|
Cataract, Corneal opacity, Corneal dystrophy, Microcornea, Iris coloboma |
ORPHA:1377 |
Hyperekplexia 4 |
|
Kyphoscoliosis, Flexion contracture, Respiratory failure, Distal arthrogryposis, Camptodactyly |
OMIM:618011 |
Congenital Muscular Dystrophy With Intellectual Disability |
|
Neuropathic spinal arthropathy, Multiple joint contractures, Microcephaly, Hip dislocation, Respi... |
ORPHA:370968 |
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
|
Persistence of hemoglobin F, Splenomegaly, Anemia |
ORPHA:46532 |
Congenital Myopathy 10A, Severe Variant |
|
Respiratory distress, Camptodactyly of finger, Respiratory insufficiency, Restrictive ventilatory... |
OMIM:614399 |
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome |
|
Tremor, Respiratory insufficiency due to muscle weakness, Flexion contracture, Respiratory failur... |
ORPHA:2590 |
Galactosemia Ii |
|
Cataract, Galactosuria |
OMIM:230200 |
Mitochondrial Complex I Deficiency, Nuclear Type 18 |
|
Wide anterior fontanel, Respiratory failure, Death in infancy |
OMIM:618240 |
Pontocerebellar Hypoplasia, Type 1C |
|
Joint contracture, Respiratory failure, Respiratory insufficiency, Death in childhood |
OMIM:616081 |
Anterior Segment Dysgenesis 8 |
|
Iridodonesis, Cataract, Ectopia lentis, Uveal ectropion, Optic nerve dysplasia, Hypoplasia of the... |
OMIM:617319 |
Alpha-Thalassemia Myelodysplasia Syndrome |
|
Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia |
OMIM:300448 |
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant |
|
Central apnea, Sacral dimple, Multiple joint contractures, Congenital hip dislocation, Micrognath... |
OMIM:618291 |
Myopathy, Mitochondrial Progressive, With Congenital Cataract And Developmental Delay |
|
Cataract, Developmental cataract |
OMIM:613076 |
Thanatophoric Dysplasia, Glasgow Variant |
|
Cataract, Anemia, Hepatosplenomegaly |
OMIM:273680 |
Muscular Dystrophy, Congenital, 1B |
|
Achilles tendon contracture, Respiratory failure, Spinal rigidity |
OMIM:604801 |
Congenital Myopathy 14 |
|
Hip contracture, Death in infancy, Apnea, Respiratory insufficiency due to muscle weakness, Flexi... |
OMIM:618414 |
Congenital Amegakaryocytic Thrombocytopenia |
|
Thrombocytopenia, Abnormal hemoglobin, Anemia |
ORPHA:3319 |
Fibrodysplasia Ossificans Progressiva |
|
Small cervical vertebral bodies, Progressive cervical vertebral spine fusion, Ectopic ossificatio... |
OMIM:135100 |
Multiple Epiphyseal Dysplasia Type 5 |
|
Back pain, Osteoarthritis of the small joints of the hand, Decreased hip abduction, Abnormal acet... |
ORPHA:93311 |
Vacterl Association With Hydrocephalus |
|
Radial club hand, Respiratory insufficiency, Respiratory failure, Abnormality of the vertebral co... |
OMIM:276950 |
Bardet-Biedl Syndrome 18 |
|
Renal insufficiency, Cataract, Stage 5 chronic kidney disease |
OMIM:615995 |
Galactosemia Iv |
|
Cataract |
OMIM:618881 |
Cataract 47 |
|
Microcornea, Cataract, Glycosuria |
OMIM:612018 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5 |
|
Vertebral fusion, Elbow contracture, Hyperlordosis, Microcephaly, Kyphosis, Achilles tendon contr... |
OMIM:606612 |
Aniridia-Intellectual Disability Syndrome |
|
Aniridia, Cataract, Optic nerve hypoplasia, Ectopia lentis |
ORPHA:1068 |
Cataract 9, Multiple Types |
|
Progressive cataract, Cataract, Developmental cataract, Microcornea, Iris coloboma |
OMIM:604219 |
Krabbe Disease, Atypical, Due To Saposin A Deficiency |
|
Central apnea, Death in infancy, Respiratory failure, Respiratory insufficiency |
OMIM:611722 |
Myopia 28, Autosomal Recessive |
|
Retinal detachment, Cataract |
OMIM:619781 |
Imperforate Oropharynx-Costovertebral Anomalies Syndrome |
|
Respiratory distress, Choanal atresia, Dyspnea, Hemivertebrae, Wide nasal bridge, Abnormal form o... |
ORPHA:2759 |
Pontocerebellar Hypoplasia, Type 4 |
|
Death in infancy, Congenital contracture, Respiratory failure, Microcephaly |
OMIM:225753 |
Aniridia 2 |
|
Cataract, Optic atrophy, Lens subluxation, Aniridia, Iris coloboma |
OMIM:617141 |
Spinal Muscular Atrophy, Type I |
|
Respiratory failure, Respiratory insufficiency, Death in childhood |
OMIM:253300 |
Coats Disease |
|
Aplasia/Hypoplasia of the iris, Retinal detachment, Cataract, Abnormal anterior chamber morphology |
ORPHA:190 |
Hypoalphalipoproteinemia, Primary, 2 |
|
Corneal arcus, Cataract |
OMIM:618463 |
Mitochondrial Dna Depletion Syndrome, Myopathic Form |
|
Respiratory distress, Respiratory insufficiency due to muscle weakness, Recurrent pneumonia, Resp... |
ORPHA:254875 |
Cyanosis, Transient Neonatal |
|
Reticulocytosis, Methemoglobinemia, Anemia |
OMIM:613977 |
Nemaline Myopathy 8 |
|
Death in infancy, Respiratory failure, Flexion contracture |
OMIM:615348 |
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome |
|
Microcornea, Posterior lenticonus, Remnants of the hyaloid vascular system, Iris coloboma |
ORPHA:231736 |
Ectopia Lentis Et Pupillae |
|
Retinal detachment, Cataract, Ectopia lentis, Iris transillumination defect, Ectopia pupillae, Pe... |
OMIM:225200 |
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans |
|
Respiratory distress, Central apnea, Lumbar hyperlordosis, Depressed nasal bridge, Wide anterior ... |
OMIM:616482 |
Hereditary Motor And Sensory Neuropathy, Okinawa Type |
|
Respiratory failure requiring assisted ventilation, Tremor, Dyspnea, Respiratory failure, Aspirat... |
ORPHA:90117 |
Microphthalmia, Isolated, With Coloboma 3 |
|
Cataract, Iris coloboma |
OMIM:610092 |
Cataract-Nephropathy-Encephalopathy Syndrome |
|
Renal tubular dysfunction, Cataract |
ORPHA:1380 |
Chorea, Remitting, With Nystagmus And Cataract |
|
Cataract |
OMIM:601372 |
Glycine Encephalopathy With Normal Serum Glycine |
|
Joint laxity, Hip contracture, Exaggerated startle response, Anteverted nares, Depressed nasal br... |
OMIM:617301 |
Alg1-Cdg |
|
Kyphosis, Limitation of joint mobility, Respiratory failure, Scoliosis, Progressive microcephaly |
ORPHA:79327 |
Myopia, High, With Cataract And Vitreoretinal Degeneration |
|
Retinal detachment, Cataract, Lens subluxation, Lattice retinal degeneration |
OMIM:614292 |
Reese Retinal Dysplasia |
|
Remnants of the hyaloid vascular system, Retinal dysplasia |
OMIM:266400 |
Neuropathy, Congenital Hypomyelinating, 3 |
|
Limb joint contracture, Microcephaly, Micrognathia, Flexion contracture, Respiratory insufficienc... |
OMIM:618186 |
Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy |
|
Anteverted nares, Tremor, Bulbous nose, Flexion contracture, Respiratory failure, Scoliosis, Inte... |
OMIM:616505 |
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome |
|
Reticulocytosis, HbS hemoglobin, Asplenia, Splenomegaly, Splenic infarction, Hypochromic microcyt... |
ORPHA:251380 |
Immunodeficiency 95 |
|
Respiratory distress, Respiratory failure, Recurrent viral upper respiratory tract infections, Re... |
OMIM:619773 |
Cataract 11, Multiple Types |
|
Cataract, Developmental cataract |
OMIM:610623 |
Retinitis Pigmentosa 40 |
|
Bone spicule pigmentation of the retina, Cataract |
OMIM:613801 |
Wagner Vitreoretinopathy |
|
Peripheral tractional retinal detachment, Cataract, Optic atrophy, Retinal pigment epithelial atr... |
OMIM:143200 |
Alpha-Thalassemia |
|
Hemolytic anemia, Abnormal hemoglobin, Microcytic anemia, Hypersplenism, Splenomegaly, Anemia |
ORPHA:846 |
Pyruvate Dehydrogenase E1-Alpha Deficiency |
|
Anteverted nares, Microcephaly, Tremor, Flared nostrils, Wide nasal bridge, Apneic episodes preci... |
OMIM:312170 |
Exfoliation Syndrome |
|
Cataract, Abnormal lens morphology, Anisocoria, Pseudoexfoliation, Pigment deposition in the trab... |
OMIM:177650 |
Sandestig-Stefanova Syndrome |
|
Prominent metopic ridge, Short neck, Wide nasal bridge, Respiratory failure, Camptodactyly, Prima... |
OMIM:618804 |
Hypophosphatasia, Adult |
|
Arthropathy, Recurrent fractures, Osteomalacia, Carious teeth, Rickets, Increased susceptibility ... |
OMIM:146300 |
Vitreoretinal Degeneration, Snowflake Type |
|
Retinal detachment, Snowflake vitreoretinal degeneration, Cataract, Corneal guttata |
OMIM:193230 |
Stickler Syndrome Type 2 |
|
Retinal detachment, Cataract, Corneal opacity |
ORPHA:90654 |
Ceroid Lipofuscinosis, Neuronal, 10 |
|
Apnea, Microcephaly, Wide nasal bridge, Respiratory insufficiency, Respiratory failure, Neonatal ... |
OMIM:610127 |
Muscular Dystrophy, Congenital, With Infantile Cataract And Hypogonadism |
|
Cataract |
OMIM:254000 |
Multiple Mitochondrial Dysfunctions Syndrome 3 |
|
Microcephaly, Respiratory insufficiency, Respiratory failure, Arthrogryposis multiplex congenita,... |
OMIM:615330 |
Developmental And Epileptic Encephalopathy 71 |
|
Respiratory failure, Cheyne-Stokes respiration, Respiratory insufficiency |
OMIM:618328 |
Glycine Encephalopathy 2 |
|
Respiratory failure |
OMIM:620398 |
Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract |
|
Microcornea, Cataract, Aniridia |
OMIM:106230 |
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability |
|
Retinal detachment, Cataract, Corneal opacity, Optic atrophy, Hematuria, Posterior embryotoxon, I... |
ORPHA:1473 |
Muscular Dystrophy, Duchenne Type |
|
Hypoventilation, Hyperlordosis, Respiratory insufficiency due to muscle weakness, Achilles tendon... |
OMIM:310200 |
Retinitis Pigmentosa 9 |
|
Bone spicule pigmentation of the retina, Cataract, Macular atrophy |
OMIM:180104 |
Myopathy, Myofibrillar, Fatal Infantile Hypertonic, Alpha-B Crystallin-Related |
|
Death in infancy, Respiratory failure, Apnea, Respiratory insufficiency |
OMIM:613869 |
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome |
|
Neuropathic spinal arthropathy, Spinal rigidity, Microcephaly, Kyphosis, Dyspnea, Respiratory ins... |
ORPHA:352447 |
Retinitis Pigmentosa 84 |
|
Macular atrophy, Bone spicule pigmentation of the retina, Cataract, Macular coloboma |
OMIM:618220 |
Cataract 10, Multiple Types |
|
Nuclear cataract, Zonular cataract, Posterior Y-sutural cataract, Developmental cataract |
OMIM:600881 |
Dermatosparaxis Ehlers-Danlos Syndrome |
|
Osteopenia, Joint dislocation, Depressed nasal bridge, Osteomalacia, Micrognathia, Joint stiffnes... |
ORPHA:1901 |
Beta-Thalassemia |
|
Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia |
OMIM:613985 |
Alpha-Thalassemia |
|
Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia |
OMIM:604131 |
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency |
|
Death in infancy, Respiratory failure, Apnea, Dystonia |
OMIM:616277 |
Osteogenesis Imperfecta, Type Iv |
|
Otosclerosis, Biconcave flattened vertebrae, Recurrent fractures, Kyphosis, Increased susceptibil... |
OMIM:166220 |
Butyrylcholinesterase Deficiency |
|
Respiratory failure requiring assisted ventilation, Respiratory failure |
ORPHA:132 |
Postsynaptic Congenital Myasthenic Syndromes |
|
Thoracic kyphoscoliosis, Reduced vital capacity, Orthopnea, Restrictive ventilatory defect, Respi... |
ORPHA:98913 |
Congenital Myopathy 10B, Mild Variant |
|
Elbow contracture, Hyperlordosis, Reduced forced vital capacity, Achilles tendon contracture, Kne... |
OMIM:620249 |
Congenital Myopathy 2C, Severe Infantile, Autosomal Dominant |
|
Mandibular prognathia, Respiratory distress, Thoracic scoliosis, Death in infancy, Knee contractu... |
OMIM:620278 |
Alpha-Thalassemia-Myelodysplastic Syndrome |
|
Microcytic anemia, Splenomegaly, Acute leukemia, Neutropenia, HbH hemoglobin, Thrombocytopenia |
ORPHA:231401 |
Retinitis Pigmentosa 4 |
|
Pigmentary retinopathy, Bone spicule pigmentation of the retina, Cataract, Retinal atrophy |
OMIM:613731 |
Oculopharyngeal Myopathy With Leukoencephalopathy 1 |
|
Tremor, Respiratory failure |
OMIM:618637 |
Diamond-Blackfan Anemia 3 |
|
Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume, Reticulocytopenia |
OMIM:610629 |
Radio-Renal Syndrome |
|
Respiratory distress, Depressed nasal bridge, Micrognathia, Short neck, Dyspnea, Abnormality of t... |
ORPHA:3015 |
Cataract 1, Multiple Types |
|
Microcornea, Posterior subcapsular cataract, Nuclear cataract, Pulverulent cataract |
OMIM:116200 |
Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Depressed nasal bridge, Hyperlordosis, Wide anterior fontanel, Dyspnea, Cardiorespiratory arrest,... |
ORPHA:26791 |
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy |
|
Death in infancy, Camptodactyly of finger, Microcephaly, Flexion contracture, Respiratory failure... |
ORPHA:1194 |
Hypocalcemic Vitamin D-Resistant Rickets |
|
Joint dislocation, Osteomalacia, Recurrent fractures, Bone cyst, Genu varum, Osteolysis, Abnormal... |
ORPHA:93160 |
Anemia, Congenital Dyserythropoietic, Type Iv |
|
Decreased hemoglobin concentration, Hemolytic anemia, Circulating nucleated red blood cells, Hypo... |
OMIM:613673 |
Alkaptonuria |
|
Arthropathy, Vertebral fusion, Low back pain, Kyphosis, Limited shoulder movement, Arthritis, Lim... |
OMIM:203500 |
Proximal Spinal Muscular Atrophy |
|
Hypoventilation, Neonatal respiratory distress, Multiple joint contractures, Respiratory insuffic... |
ORPHA:70 |
Microphthalmia, Isolated 5 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Cataract, Retinal pigment epithelial ... |
OMIM:611040 |
Morning Glory Disc Anomaly |
|
Retinal detachment, Cataract, Abnormality of retinal pigmentation, Optic disc coloboma |
ORPHA:35737 |
Spinal Muscular Atrophy With Congenital Bone Fractures 2 |
|
Neonatal respiratory distress, Multiple prenatal fractures, Flexion contracture, Respiratory fail... |
OMIM:616867 |
Intermediate Nemaline Myopathy |
|
Multiple prenatal fractures, Arthrogryposis multiplex congenita, Respiratory failure, Flexion con... |
ORPHA:171433 |
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome |
|
Respiratory failure requiring assisted ventilation, Dystonia, Congenital hip dislocation, Microgn... |
ORPHA:496641 |
Sillence Syndrome |
|
Back pain, Flat acetabular roof, Platyspondyly, Scoliosis, Camptodactyly, Abnormal vertebral morp... |
ORPHA:3168 |
Chondrodysplasia Punctata, Autosomal Dominant |
|
Hip contracture, Hypoplasia of the nasal bone, Knee flexion contracture, Epiphyseal stippling, Sc... |
OMIM:118650 |
Persistent Hyperplastic Primary Vitreous |
|
Glial remnants anterior to the optic disc, Cataract, Corneal opacity, Hyaloid vascular remnant an... |
ORPHA:91495 |
Cone-Rod Dystrophy 16 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Cataract, Macular atrophy |
OMIM:614500 |
Anterior Segment Dysgenesis 7 |
|
Cataract, Corneal opacity, Sclerocornea, Microcornea, Buphthalmos, Anterior synechiae of the ante... |
OMIM:269400 |
Congenital Neuronal Ceroid Lipofuscinosis |
|
Neonatal respiratory distress, Apnea, Microcephaly, Wide nasal bridge, Respiratory failure |
ORPHA:168486 |
Combined Oxidative Phosphorylation Deficiency 51 |
|
Neonatal respiratory distress, Respiratory failure, Aspiration pneumonia |
OMIM:619057 |
Cataract 3, Multiple Types |
|
Nuclear pulverulent cataract, Sutural cataract, Cerulean cataract, Developmental cataract |
OMIM:601547 |
Combined Oxidative Phosphorylation Deficiency 28 |
|
Respiratory failure |
OMIM:616794 |
Senior-Loken Syndrome |
|
Abnormality of retinal pigmentation, Cataract, Chronic kidney disease, Stage 5 chronic kidney dis... |
ORPHA:3156 |
Sickle Cell Anemia |
|
Hemolytic anemia, Reticulocytosis, Microcytic anemia, Abnormality of the spleen, Leukocytosis, Pe... |
ORPHA:232 |
Arthrogryposis Multiplex Congenita 6 |
|
Death in infancy, Respiratory failure, Death in childhood, Neonatal death, Arthrogryposis multipl... |
OMIM:619334 |
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development |
|
Hematuria, Cataract, Iris coloboma |
OMIM:120433 |
Renal Hypodysplasia/Aplasia 4 |
|
Respiratory failure |
OMIM:619887 |
Coloboma, Ocular, Autosomal Dominant |
|
Optic nerve aplasia, Remnants of the hyaloid vascular system, Corneal opacity, Optic disc colobom... |
OMIM:120200 |
Blindness-Scoliosis-Arachnodactyly Syndrome |
|
Retinal detachment, Abnormality of retinal pigmentation, Cataract, Lens subluxation, Microphakia |
ORPHA:171844 |
Cataract 14, Multiple Types |
|
Zonular cataract |
OMIM:601885 |
Pontocerebellar Hypoplasia Type 1 |
|
Arthrogryposis multiplex congenita, Respiratory failure, Progressive microcephaly, Congenital lar... |
ORPHA:2254 |
Hypophosphatemic Rickets, Autosomal Recessive, 1 |
|
Hypophosphatemic rickets, Increased bone mineral density, Rickets, Craniosynostosis |
OMIM:241520 |
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor |
|
Delayed epiphyseal ossification, Rickets, Genu varum, Genu valgum, Sparse bone trabeculae, Genera... |
OMIM:600785 |
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria) |
|
Death in infancy, Neonatal respiratory distress, Respiratory insufficiency, Respiratory failure, ... |
OMIM:245400 |
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive |
|
Cataract, Corneal opacity, Remnants of the hyaloid vascular system, Leukocoria, Microcornea, Buph... |
OMIM:221900 |
Leber Congenital Amaurosis 8 |
|
Keratoconus, Cataract, Macular coloboma, Nummular pigmentation of the fundus, Pigmentary retinopathy |
OMIM:613835 |
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome |
|
Aplasia/Hypoplasia of the iris, Cataract, Corneal opacity, Persistent pupillary membrane |
ORPHA:1067 |
Peters Anomaly |
|
Central opacification of the cornea, Developmental glaucoma, Anterior synechiae of the anterior c... |
ORPHA:708 |
Congenital Myopathy 21 With Early Respiratory Failure |
|
Dyspnea, Respiratory failure, Nocturnal hypoventilation, Spinal rigidity |
OMIM:620326 |
Autosomal Recessive Hypophosphatemic Rickets |
|
Delayed eruption of teeth, Abnormal trabecular bone morphology, Increased bone mineral density, O... |
ORPHA:289176 |
Vitamin D-Dependent Rickets, Type 2A |
|
Delayed eruption of teeth, Enlargement of the ankles, Recurrent fractures, Carious teeth, Delayed... |
OMIM:277440 |
Congenital Multicore Myopathy With External Ophthalmoplegia |
|
Joint laxity, Pneumonia, Flexion contracture, Abnormal respiratory system physiology, Respiratory... |
ORPHA:98905 |
Cataract 5, Multiple Types |
|
Pulverulent cataract, Nuclear cataract, Lamellar cataract, Anterior polar cataract, Zonular cataract |
OMIM:116800 |
Congenital Fiber-Type Disproportion Myopathy |
|
Hip contracture, Congenital hip dislocation, Kyphoscoliosis, Hyperlordosis, Micrognathia, Ankle f... |
ORPHA:2020 |
Sponastrime Dysplasia |
|
Mandibular prognathia, Obtuse angle of mandible, Aplasia of the nasal bone, Delayed epiphyseal os... |
ORPHA:93357 |
Ciliary Dyskinesia, Primary, 5 |
|
Neonatal respiratory distress, Nasal polyposis, Recurrent pneumonia, Bronchiectasis, Respiratory ... |
OMIM:608647 |
Microcornea, Rod-Cone Dystrophy, Cataract, And Posterior Staphyloma 1 |
|
Microcornea, Cataract |
OMIM:619082 |
Scedosporiosis |
|
Bronchial breath sound, Sinusitis, Arthralgia/arthritis, Osteomyelitis, Pneumonia, Abnormal respi... |
ORPHA:449280 |
Coloboma, Ocular, Autosomal Recessive |
|
Cataract, Optic disc coloboma, Retinal coloboma, Lens subluxation, Iris coloboma |
OMIM:216820 |
Asbestos Intoxication |
|
Reduced vital capacity, Reduced forced vital capacity, Nonproductive cough, Dyspnea, Wheezing, La... |
ORPHA:2302 |
Hereditary Motor And Sensory Neuropathy, Type Iic |
|
Stridor, Respiratory failure, Scoliosis, Intercostal muscle weakness |
OMIM:606071 |
Proximal Myotonic Myopathy |
|
Cataract |
ORPHA:606 |
Triosephosphate Isomerase Deficiency |
|
Respiratory distress, Death in infancy, Tremor, Kyphosis, Respiratory insufficiency due to muscle... |
OMIM:615512 |
Hypophosphatemic Rickets, X-Linked Dominant |
|
Osteomalacia, Osteoarthritis, Enamel hypomineralization, Rickets, Spinal canal stenosis, Genu val... |
OMIM:307800 |
Autosomal Dominant Keratitis |
|
Cataract, Keratitis, Abnormal corneal limbus morphology, Microcornea, Hypoplastic iris stroma, Op... |
ORPHA:2334 |
Stickler Syndrome, Type V |
|
Retinal detachment, Cataract |
OMIM:614284 |
Retinal Dystrophy And Iris Coloboma With Or Without Cataract |
|
Retinal atrophy, Posterior synechiae of the anterior chamber, Iris coloboma, Developmental cataract |
OMIM:616722 |
Cataract-Intellectual Disability-Anal Atresia-Urinary Defects Syndrome |
|
Aplasia/Hypoplasia of the lens, Hypoplasia of penis, Cataract, Hypospadias |
ORPHA:1381 |
Cataract 20, Multiple Types |
|
Lamellar cataract, Membranous cataract, Sutural cataract, Cortical cataract |
OMIM:116100 |
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy |
|
Hypoventilation, Abnormality of the temporomandibular joint, Hyperlordosis, Flexion contracture, ... |
ORPHA:258 |
Loeys-Dietz Syndrome 6 |
|
Hip osteoarthritis, Knee osteoarthritis, Scoliosis, Intervertebral disc degeneration |
OMIM:619656 |
Anterior Segment Dysgenesis 2 |
|
Cataract, Corneal opacity, Sclerocornea, Microcornea, Posterior synechiae of the anterior chamber... |
OMIM:610256 |
Lethal Congenital Contracture Syndrome 2 |
|
Arthrogryposis multiplex congenita, Respiratory failure, Micrognathia |
OMIM:607598 |
Interstitial Pneumonitis, Desquamative, Familial |
|
Respiratory distress, Recurrent upper respiratory tract infections, Tachypnea, Respiratory failur... |
OMIM:263000 |
Vitamin D Hydroxylation-Deficient Rickets, Type 1A |
|
Delayed eruption of teeth, Enlargement of the ankles, Recurrent fractures, Delayed epiphyseal oss... |
OMIM:264700 |
Peroxisome Biogenesis Disorder 4A (Zellweger) |
|
Epiphyseal stippling, Respiratory failure, Depressed nasal bridge, Death in infancy |
OMIM:614862 |
Osteopetrosis, Autosomal Recessive 5 |
|
Increased bone mineral density, Micrognathia, Microcephaly, Cranial hyperostosis, Respiratory fai... |
OMIM:259720 |
Neu-Laxova Syndrome |
|
Osteopenia, Osteomalacia, Microcephaly, Micrognathia, Trismus, Flexion contracture, Depressed nas... |
ORPHA:2671 |
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type |
|
Respiratory failure, Generalized dystonia |
ORPHA:70472 |
Hypocalcemic Vitamin D-Dependent Rickets |
|
Delayed eruption of teeth, Enlargement of the ankles, Wide cranial sutures, Osteomalacia, Delayed... |
ORPHA:289157 |
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 1 |
|
Camptodactyly of finger, Tachypnea, Respiratory failure, Inspiratory stridor, Ventilator dependen... |
OMIM:604320 |
Norrie Disease |
|
Retinal detachment, Cataract, Corneal opacity, Optic atrophy, Leukocoria, Hypoplasia of the iris,... |
OMIM:310600 |
Amoebic Keratitis |
|
Iris atrophy, Cataract, Abnormal corneal epithelium morphology, Abnormal anterior chamber morphol... |
ORPHA:67043 |
Combined Oxidative Phosphorylation Deficiency 52 |
|
Death in infancy, Respiratory failure |
OMIM:619386 |
Leigh Syndrome |
|
Respiratory failure, Abnormal pattern of respiration, Respiratory insufficiency, Dystonia |
OMIM:256000 |
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome |
|
Head titubation, Vestibular areflexia, Respiratory failure, Osteopetrosis, Dystonia |
ORPHA:3240 |
Hepatic Veno-Occlusive Disease |
|
Respiratory failure |
ORPHA:890 |
Fibrous Dysplasia Of Bone |
|
Abnormality of the cervical spine, Thin bony cortex, Osteomalacia, Fibrous dysplasia of the bones... |
ORPHA:249 |
Vitamin D Hydroxylation-Deficient Rickets, Type 1B |
|
Enlargement of the ankles, Recurrent fractures, Delayed epiphyseal ossification, Enlargement of t... |
OMIM:600081 |
Pneumocystosis |
|
Respiratory failure requiring assisted ventilation, Nonproductive cough, Dyspnea, Respiratory ins... |
ORPHA:723 |
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii |
|
Osteopenia, Abnormally ossified vertebrae, Abnormal intervertebral disk morphology, Osteomalacia,... |
ORPHA:2636 |
Severe Neurodegenerative Syndrome With Lipodystrophy |
|
Tremor, Respiratory failure, Limb dystonia |
ORPHA:363400 |
Otopalatodigital Syndrome, Type Ii |
|
Congenital hip dislocation, Depressed nasal bridge, Elbow contracture, Kyphoscoliosis, Micrognath... |
OMIM:304120 |
Staphylococcal Necrotizing Pneumonia |
|
Respiratory distress, Pneumonia, Nonproductive cough, Dyspnea, Tachypnea, Pneumothorax, Acute inf... |
ORPHA:36238 |
Myopathy, Myofibrillar, 9, With Early Respiratory Failure |
|
Achilles tendon contracture, Respiratory failure, Reduced vital capacity, Nocturnal hypoventilation |
OMIM:603689 |
Avian Influenza |
|
Respiratory distress, Miscarriage, Pneumonia, Productive cough, Nonproductive cough, Dyspnea, Tac... |
ORPHA:454836 |
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14 |
|
Mandibular prognathia, Micrognathia, Hypoplasia of the maxilla, Short neck, Flexion contracture, ... |
ORPHA:96334 |
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia |
|
Respiratory distress, Death in infancy, Tachypnea, Respiratory insufficiency, Respiratory failure |
OMIM:614299 |
Multiple Mitochondrial Dysfunctions Syndrome 1 |
|
Death in infancy, Respiratory insufficiency, Opisthotonus, Respiratory failure, Neonatal death, P... |
OMIM:605711 |
X-Linked Hypophosphatemia |
|
Odontodysplasia, Craniosynostosis, Generalized osteosclerosis, Sacroiliac joint synovitis, Limita... |
ORPHA:89936 |
Combined Oxidative Phosphorylation Deficiency 4 |
|
Death in infancy, Respiratory failure, Microcephaly, Opisthotonus |
OMIM:610678 |
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy |
|
Retinal detachment, Cataract, Macular atrophy, Corneal scarring, Buphthalmos, Iris coloboma |
OMIM:212550 |
Bone Marrow Failure Syndrome 6 |
|
Persistence of hemoglobin F, Increased mean corpuscular volume, Neutropenia, Lymphopenia, Anemia |
OMIM:618849 |
Beta-Thalassemia |
|
Abnormal hemoglobin, Microcytic anemia, Splenomegaly, Anemia, Thrombocytopenia |
ORPHA:848 |
Aneurysm-Osteoarthritis Syndrome |
|
Joint laxity, Osteoarthritis of the small joints of the hand, Camptodactyly of finger, Craniosyno... |
ORPHA:284984 |
Hypophosphatemic Rickets With Hypercalciuria, Hereditary |
|
Enlargement of the ankles, Recurrent fractures, Delayed epiphyseal ossification, Enlargement of t... |
OMIM:241530 |
Wolfram Syndrome 1 |
|
Sideroblastic anemia, Neurogenic bladder, Cataract, Hydroureter, Megaloblastic anemia, Optic atro... |
OMIM:222300 |
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion |
|
Joint laxity, Flexion contracture of finger, Depressed nasal bridge, Anteverted nares, Flexion co... |
ORPHA:254528 |
Geleophysic Dysplasia 3 |
|
Depressed nasal bridge, Anteverted nares, Limited elbow movement, Limited wrist movement, Pneumon... |
OMIM:617809 |
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6 |
|
Ankle clonus, Respiratory failure |
OMIM:613954 |
Oculocerebrofacial Syndrome, Kaufman Type |
|
Respiratory distress, Micrognathia, Microcephaly, Dyspnea, Respiratory failure, Retrognathia |
ORPHA:2707 |
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Death in infancy, Neonatal respiratory distress, Apnea, Microcephaly, Bulbous nose, Elbow flexion... |
OMIM:608836 |
Spinocerebellar Ataxia Type 1 |
|
Respiratory failure, Postural tremor, Dystonia |
ORPHA:98755 |
Isolated Aniridia |
|
Aniridia, Cataract, Peters anomaly |
ORPHA:250923 |
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis |
|
Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume |
OMIM:300946 |
Hb Bart'S Hydrops Fetalis |
|
Splenomegaly, Abnormal hemoglobin, Anemia |
ORPHA:163596 |
Oculopalatocerebral Syndrome |
|
Remnants of the hyaloid vascular system, Leukocoria |
OMIM:257910 |
Hypophosphatemic Rickets, X-Linked Recessive |
|
Enlargement of the ankles, Recurrent fractures, Osteomalacia, Delayed epiphyseal ossification, En... |
OMIM:300554 |
Immunodeficiency 54 |
|
Respiratory failure, Respiratory insufficiency, Microcephaly |
OMIM:609981 |
Neurodegeneration, Childhood-Onset, With Progressive Microcephaly |
|
Microcephaly, Opisthotonus, Death in childhood, Respiratory failure, Limb dystonia, Primary micro... |
OMIM:619847 |
Anterior Segment Dysgenesis 1 |
|
Microcornea, Opacification of the corneal stroma, Peters anomaly, Posterior polar cataract, Ocula... |
OMIM:107250 |
Surfactant Metabolism Dysfunction, Pulmonary, 3 |
|
Respiratory distress, Death in infancy, Neonatal respiratory distress, Nonspecific interstitial p... |
OMIM:610921 |
Amyotrophic Lateral Sclerosis 12 With Or Without Frontotemporal Dementia |
|
Respiratory failure |
OMIM:613435 |
Neuromyelitis Optica Spectrum Disorder |
|
Respiratory failure |
ORPHA:71211 |
Rajab Interstitial Lung Disease With Brain Calcifications 1 |
|
Osteopenia, Joint laxity, Microcephaly, Tachypnea, Rickets, Respiratory insufficiency, Reduced bo... |
OMIM:613658 |
Arterial Tortuosity Syndrome |
|
Respiratory distress, Craniosynostosis, Dyspnea, Hip dislocation, Cardiorespiratory arrest, Joint... |
ORPHA:3342 |
Surfactant Metabolism Dysfunction, Pulmonary, 2 |
|
Respiratory distress, Nonspecific interstitial pneumonia, Spontaneous pneumothorax, Reduced force... |
OMIM:610913 |
Aniridia And Absent Patella |
|
Aniridia, Cataract |
OMIM:106220 |
Tibial Muscular Dystrophy |
|
Respiratory failure |
ORPHA:609 |
Aniridia 3 |
|
Aniridia, Cataract |
OMIM:617142 |
Cataract 39, Multiple Types |
|
Lamellar cataract, Anterior polar cataract, Developmental cataract |
OMIM:615188 |
Central Hypoventilation Syndrome, Congenital, 3 |
|
Respiratory failure, Apnea, Central hypoventilation |
OMIM:619483 |
Acute Interstitial Pneumonia |
|
Crackles, Nonproductive cough, Dyspnea, Tachypnea, Bronchiectasis, Hypoxemia, Respiratory failure... |
ORPHA:79126 |
Surfactant Metabolism Dysfunction, Pulmonary, 1 |
|
Death in infancy, Neonatal respiratory distress, Apnea, Dyspnea, Tachypnea, Respiratory failure, ... |
OMIM:265120 |
Optic Nerve Hypoplasia, Bilateral |
|
Optic nerve aplasia, Remnants of the hyaloid vascular system, Optic nerve hypoplasia |
OMIM:165550 |
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities |
|
Tremor, Exaggerated startle response, Limb joint contracture, Respiratory failure |
OMIM:620327 |
Combined Oxidative Phosphorylation Deficiency 11 |
|
Death in infancy, Respiratory failure, Stillbirth, Death in childhood, Neonatal death |
OMIM:614922 |
Primary Ciliary Dyskinesia |
|
Neonatal respiratory distress, Nasal polyposis, Productive cough, Wheezing, Bronchiectasis, Nasal... |
ORPHA:244 |
Cholestasis, Progressive Familial Intrahepatic, 1 |
|
Osteopenia, Wheezing, Rickets, Epistaxis |
OMIM:211600 |
Myhre Syndrome |
|
Mandibular prognathia, Vertebral fusion, Prominent nasal bridge, Microcephaly, Hypoplasia of the ... |
OMIM:139210 |
Autosomal Dominant Hypophosphatemic Rickets |
|
Osteomalacia, Rickets, Tooth abscess |
ORPHA:89937 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 8 |
|
Respiratory failure, Tachypnea, Death in childhood |
OMIM:615838 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2 |
|
Hip contracture, Death in infancy, Anteverted nares, Depressed nasal bridge, Micrognathia, Microc... |
OMIM:300868 |
Ear-Patella-Short Stature Syndrome |
|
Respiratory distress, Camptodactyly of finger, Craniosynostosis, Micrognathia, Hypoplasia of the ... |
ORPHA:2554 |
Alport Syndrome 2, Autosomal Recessive |
|
Renal insufficiency, Cataract, Proteinuria, Corneal erosion, Stage 5 chronic kidney disease, Hema... |
OMIM:203780 |
Infantile Systemic Hyalinosis |
|
Osteopenia, Recurrent fractures, Osteomalacia, Camptodactyly of finger, Joint stiffness, Short ne... |
ORPHA:2176 |
Costello Syndrome |
|
Hyperextensibility of the finger joints, Depressed nasal bridge, Anteverted nares, Limited elbow ... |
OMIM:218040 |
Acute Lung Injury |
|
Respiratory distress, Pneumonia, Dyspnea, Tachypnea, Hypoxemia, Respiratory failure |
ORPHA:178320 |
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia |
|
Death in childhood, Death in adolescence, Osteoporosis, Rickets |
OMIM:560000 |
Hypophosphatemic Rickets, Autosomal Dominant |
|
Hypophosphatemic rickets, Rickets, Osteomalacia |
OMIM:193100 |
Exudative Vitreoretinopathy 6 |
|
Retinal detachment, Cataract, Patchy atrophy of the retinal pigment epithelium, Nuclear cataract,... |
OMIM:616468 |
Isolated Arrhinia |
|
Respiratory distress, Aplasia/Hypoplasia of the nasal septum, Underdeveloped nasal alae, Hypoplas... |
ORPHA:1134 |
Mccune-Albright Syndrome |
|
Osteomalacia, Recurrent fractures, Fibrous dysplasia of the bones, Dental malocclusion, Nasal con... |
ORPHA:562 |
Glycogen Storage Disease Due To Acid Maltase Deficiency |
|
Respiratory distress, Orthopnea, Hyperlordosis, Respiratory insufficiency due to muscle weakness,... |
ORPHA:365 |
Primary Familial Polycythemia |
|
Polycythemia, Abnormal hemoglobin |
ORPHA:90042 |
Severe Congenital Nemaline Myopathy |
|
Multiple prenatal fractures, Arthrogryposis multiplex congenita, Respiratory failure, Flexion con... |
ORPHA:171430 |
Atypical Werner Syndrome |
|
Sclerosis of hand bone, Increased bone mineral density, Micrognathia, Limitation of joint mobilit... |
ORPHA:79474 |
Pierson Syndrome |
|
Diffuse mesangial sclerosis, Retinal detachment, Rieger anomaly, Cataract, Hypoplasia of the cili... |
OMIM:609049 |
Mercury Poisoning |
|
Respiratory distress, Tremor, Dyspnea, Respiratory failure, Interstitial pneumonitis, Dystonia |
ORPHA:330021 |
Cataract 30, Multiple Types |
|
Posterior polar cataract, Diffuse nuclear cataract, Pulverulent cataract |
OMIM:116300 |
Idiopathic Pulmonary Hemosiderosis |
|
Crackles, Dyspnea, Restrictive ventilatory defect, Respiratory failure, Cough |
ORPHA:99931 |
Mitochondrial Complex I Deficiency, Nuclear Type 10 |
|
Respiratory failure, Apnea, Central hypoventilation |
OMIM:618233 |
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 1 |
|
Torticollis, Tremor, Bradypnea, Respiratory failure, Death in childhood |
OMIM:617186 |
Methemoglobinemia And Ambiguous Genitalia |
|
Methemoglobinemia, Scrotal hypospadias, Micropenis, Hypospadias |
OMIM:250790 |
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase |
|
Methemoglobinemia, Polycythemia |
OMIM:250800 |
Infant Acute Respiratory Distress Syndrome |
|
Pneumonia, Nasal flaring, Tachypnea, Hypoxemia, Respiratory failure |
ORPHA:70587 |
Snakebite Envenomation |
|
Respiratory failure, Respiratory paralysis, Epistaxis |
ORPHA:449285 |
Adult Acute Respiratory Distress Syndrome |
|
Pneumonia, Dyspnea, Hypoxemia, Respiratory failure, Abnormal blood gas level |
ORPHA:70578 |
Dent Disease 1 |
|
Enlargement of the ankles, Recurrent fractures, Osteomalacia, Delayed epiphyseal ossification, En... |
OMIM:300009 |
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly |
|
Respiratory distress, Respiratory failure, Depressed nasal bridge |
OMIM:617895 |
Papillorenal Syndrome |
|
Retinal detachment, Multicystic kidney dysplasia, Cataract, Proteinuria, Lens luxation, Absence o... |
OMIM:120330 |
Chromosome 16Q12 Duplication Syndrome |
|
Anisocoria, Retinal pigment epithelial mottling, Cataract, Temporal optic disc pallor |
OMIM:619649 |
Peripartum Cardiomyopathy |
|
Orthopnea, Crackles, Dyspnea, Asthma, Respiratory failure, Paroxysmal dyspnea, Pulmonary arterial... |
ORPHA:563 |
Autoinflammation With Pulmonary And Cutaneous Vasculitis |
|
Interstitial pneumonitis, Restrictive ventilatory defect, Respiratory failure, Recurrent upper re... |
OMIM:620296 |
Cataract 31, Multiple Types |
|
Posterior subcapsular cataract, Anterior subcapsular cataract, Nuclear cataract |
OMIM:605387 |
Hypophosphatemic Bone Disease |
|
Rickets, Osteomalacia |
OMIM:146350 |
3-Methylglutaconic Aciduria Type 7 |
|
Pneumothorax, Opisthotonus, Choreoathetosis, Respiratory failure, Primary microcephaly |
ORPHA:445038 |
Muscular Dystrophy, Congenital, With Or Without Seizures |
|
Respiratory distress, Respiratory failure |
OMIM:620166 |
Niemann-Pick Disease, Type C2 |
|
Death in infancy, Neonatal respiratory distress, Dystonia, Respiratory insufficiency, Respiratory... |
OMIM:607625 |
Brain-Lung-Thyroid Syndrome |
|
Respiratory distress, Neonatal respiratory distress, Microcephaly, Asthma, Recurrent pneumonia, C... |
ORPHA:209905 |
Pulmonary Alveolar Microlithiasis |
|
Increased pulmonary vascular resistance, Nonproductive cough, Dyspnea, Tachypnea, Pneumothorax, B... |
ORPHA:60025 |
Riddle Syndrome |
|
Pneumonia, Microcephaly, Neonatal asphyxia, Recurrent pneumonia, Arthritis, Restrictive ventilato... |
ORPHA:420741 |
Loeys-Dietz Syndrome 3 |
|
Joint laxity, Protrusio acetabuli, Craniosynostosis, Osteoarthritis, Knee osteoarthritis, Dental ... |
OMIM:613795 |
Axial Osteomalacia |
|
Increased bone mineral density, Osteomalacia |
OMIM:109130 |
Bile Acid Conjugation Defect 1 |
|
Rickets |
OMIM:619232 |
Beta-Thalassemia Intermedia |
|
Increased HbA2 hemoglobin, Extramedullary hematopoiesis, Anemia of inadequate production, Splenom... |
ORPHA:231222 |
Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Cataract, Optic atrophy, Stage 5 chro... |
OMIM:268315 |
Occipital Horn Syndrome |
|
Osteopenia, Osteomalacia, Kyphosis, Osteoporosis, Rickets, Osteolysis, Abnormality of the sense o... |
ORPHA:198 |
Cataract 15, Multiple Types |
|
Lamellar cataract, Nuclear cataract, Cortical cataract |
OMIM:615274 |
Cataract 33, Multiple Types |
|
Lamellar cataract, Nuclear cataract, Cortical cataract |
OMIM:611391 |
Infantile Krabbe Disease |
|
Ankle clonus, Respiratory failure, Respiratory distress, Opisthotonus |
ORPHA:206436 |
Hypercholanemia, Familial 1 |
|
Rickets |
OMIM:607748 |
Nijmegen Breakage Syndrome |
|
Depressed nasal bridge, Prominent nasal bridge, Prominent nose, Microcephaly, Short neck, Recurre... |
ORPHA:647 |
Fuchs Heterochromic Iridocyclitis |
|
Anterior chamber inflammatory cells, Iris atrophy, Papilledema, Cataract, Optic disc pallor, Anis... |
ORPHA:263479 |
Combined Oxidative Phosphorylation Defect Type 23 |
|
Stridor, Respiratory failure, Paroxysmal dyspnea |
ORPHA:444013 |
Fanconi Renotubular Syndrome 2 |
|
Osteopenia, Recurrent fractures, Osteomalacia, Rickets |
OMIM:613388 |
Listeriosis |
|
Back pain, Respiratory distress, Stiff neck, Osteomyelitis, Pneumonia, Miscarriage, Tremor, Respi... |
ORPHA:533 |
Hereditary Hypophosphatemic Rickets With Hypercalciuria |
|
Hypophosphatemic rickets, Pathologic fracture, Osteomalacia, Reduced bone mineral density |
ORPHA:157215 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 1 |
|
Respiratory distress, Respiratory insufficiency due to muscle weakness, Respiratory failure, Deat... |
OMIM:220110 |
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss |
|
Rickets |
OMIM:602722 |
Thoracic Dysplasia-Hydrocephalus Syndrome |
|
Respiratory failure, Depressed nasal ridge |
ORPHA:1861 |
Leigh Syndrome |
|
Multiple joint contractures, Choreoathetosis, Athetosis, Respiratory failure, Dystonia, Abnormal ... |
ORPHA:506 |
Amyotrophic Lateral Sclerosis |
|
Dyspnea, Respiratory failure, Abnormal respiratory system physiology |
ORPHA:803 |
Oculocerebrorenal Syndrome Of Lowe |
|
Mandibular prognathia, Delayed eruption of teeth, Death in infancy, Abnormal dental enamel morpho... |
ORPHA:534 |
3-Methylglutaconic Aciduria, Type Viii |
|
Death in infancy, Apnea, Tremor, Hypopnea, Respiratory failure, Secondary microcephaly, Dystonia,... |
OMIM:617248 |
Hereditary Methemoglobinemia |
|
Methemoglobinemia |
ORPHA:621 |
Nephronophthisis 2 |
|
Respiratory failure, Respiratory insufficiency |
OMIM:602088 |
Lowe Oculocerebrorenal Syndrome |
|
Osteomalacia, Camptodactyly of finger, Wrist swelling, Kyphosis, Rickets, Hip dislocation, Genu v... |
OMIM:309000 |
Hartsfield Syndrome |
|
Craniosynostosis, Wide nose, Hypoplasia of the frontal bone, Microcephaly |
OMIM:615465 |
Lethal Acantholytic Erosive Disorder |
|
Camptodactyly of toe, Natal tooth, Respiratory failure |
ORPHA:158687 |
Diamond-Blackfan Anemia 6 |
|
Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume |
OMIM:612561 |
Combined Oxidative Phosphorylation Deficiency 3 |
|
Death in infancy, Tremor, Dyspnea, Respiratory insufficiency, Death in childhood, Respiratory fai... |
OMIM:610505 |
Renal Tubular Acidosis Iii |
|
Rickets, Osteomalacia |
OMIM:267200 |
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16 |
|
Hypospadias, HbH hemoglobin, Microcytic anemia |
ORPHA:98791 |
Digeorge Syndrome |
|
Pilonidal sinus, Micrognathia, Microcephaly, Asthma, Chronic pulmonary obstruction, Recurrent pne... |
OMIM:188400 |
Car T Cell Therapy-Associated Cytokine Release Syndrome |
|
Hypoxemia, Pleural effusion, Tachypnea, Respiratory failure |
ORPHA:542323 |
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome |
|
Camptodactyly of finger, Underdeveloped nasal alae, Hypoplasia of the maxilla, Wide nasal bridge,... |
ORPHA:306542 |
Deafness-Lymphedema-Leukemia Syndrome |
|
Respiratory failure |
ORPHA:3226 |
Oculo-Palato-Cerebral Syndrome |
|
Retinal detachment, Cataract, Remnants of the hyaloid vascular system, Leukocoria |
ORPHA:2714 |
Abetalipoproteinemia |
|
Osteopenia, Respiratory failure, Kyphoscoliosis |
ORPHA:14 |
Aniridia 1 |
|
Anterior subcapsular cataract, Cataract, Optic nerve hypoplasia, Ectopia lentis, Corneal erosion,... |
OMIM:106210 |
Diamond-Blackfan Anemia |
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Acute myeloid leukemia, Hypospadias, Pure red cell aplasia, Erythroid hypoplasia, Developmental g... |
ORPHA:124 |
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome |
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Pulmonary arterial hypertension, Respiratory failure, Respiratory insufficiency |
OMIM:613845 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7 |
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Retinal detachment, Cataract, Remnants of the hyaloid vascular system, Optic nerve hypoplasia, Re... |
OMIM:614643 |
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia |
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Rickets |
OMIM:611590 |
Pelizaeus-Merzbacher Disease, Connatal Form |
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Respiratory failure, Titubation |
ORPHA:280210 |
Bone Marrow Failure Syndrome 3 |
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Acute myeloid leukemia, Pancytopenia, Aplastic anemia, Thrombocytopenia, Persistence of hemoglobi... |
OMIM:617052 |
Oculoauricular Syndrome |
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Retinal detachment, Cataract, Sclerocornea, Developmental cataract, Microcornea, Iris cyst, Poste... |
OMIM:612109 |
Boutonneuse Fever |
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Respiratory failure |
ORPHA:83313 |
S-Adenosylhomocysteine Hydrolase Deficiency |
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Respiratory failure, Microcephaly |
ORPHA:88618 |
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome |
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Lumbar hyperlordosis, Depressed nasal bridge, Kyphoscoliosis, Sagittal craniosynostosis, Hypoplas... |
ORPHA:500150 |
Renal Tubular Acidosis, Distal, 1 |
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Pathologic fracture, Osteomalacia |
OMIM:179800 |
Ulbright-Hodes Syndrome |
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Respiratory distress, Depressed nasal bridge, Micrognathia, Short neck, Humeroradial synostosis, ... |
ORPHA:3404 |
Poliomyelitis |
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Respiratory failure requiring assisted ventilation, Respiratory failure, Stiff neck |
ORPHA:2912 |
Isolated Exencephaly |
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Depressed nasal bridge, Hypoplasia of the frontal bone |
ORPHA:563612 |
Dent Disease |
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Enlargement of the ankles, Recurrent fractures, Osteomalacia, Delayed epiphyseal ossification, En... |
ORPHA:1652 |
Dominant Beta-Thalassemia |
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Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, Anisocytosis, ... |
ORPHA:231226 |
Celiac Disease, Susceptibility To, 1 |
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Enamel hypoplasia, Osteoporosis, Rickets |
OMIM:212750 |
Microphthalmia With Linear Skin Defects Syndrome |
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Respiratory distress, Wide nose, Sacral dimple, Abnormal dental enamel morphology, Micrognathia, ... |
ORPHA:2556 |
Fanconi Renotubular Syndrome 3 |
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Rickets |
OMIM:615605 |
Fanconi Renotubular Syndrome 1 |
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Rickets, Osteomalacia |
OMIM:134600 |
Beta-Thalassemia Major |
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Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, Anemia of inad... |
ORPHA:231214 |
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin |
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Persistence of hemoglobin F, Astigmatism |
OMIM:619769 |
Mitochondrial Trifunctional Protein Deficiency 1 |
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Respiratory failure, Respiratory insufficiency |
OMIM:609015 |
Combined Oxidative Phosphorylation Deficiency 37 |
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Respiratory failure, Secondary microcephaly, Respiratory insufficiency |
OMIM:618329 |
Wilson Disease |
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Limb dystonia, Osteomalacia, Tremor, Osteoarthritis, Osteoporosis, Hand tremor, Dystonia, Hyposmi... |
OMIM:277900 |
Cystinosis |
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Rickets |
ORPHA:213 |
Atelis Syndrome 2 |
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Thrombocytopenia, Remnants of the hyaloid vascular system, Anemia, Developmental cataract |
OMIM:620185 |
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset |
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Respiratory distress, Respiratory failure requiring assisted ventilation, Respiratory insufficien... |
ORPHA:308552 |
X-Linked Intellectual Disability-Limb Spasticity-Retinal Dystrophy-Diabetes Insipidus Syndrome |
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Optic disc pallor, HbH hemoglobin, Macular coloboma |
ORPHA:423479 |
Bloom Syndrome |
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Pneumonia, Micrognathia, Chronic pulmonary obstruction, Respiratory failure, Rhinitis, Retrognathia |
ORPHA:125 |
Frontofacionasal Dysplasia |
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Underdeveloped nasal alae, Bifid nose, Midline defect of the nose, Short nose, Hypoplasia of the ... |
OMIM:229400 |
Severe Generalized Junctional Epidermolysis Bullosa |
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Respiratory distress, Pneumonia, Dyspnea, Pneumothorax, Osteoporosis, Stridor, Respiratory failur... |
ORPHA:79404 |
Mitochondrial Trifunctional Protein Deficiency |
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Respiratory failure, Respiratory insufficiency |
ORPHA:746 |
Usher Syndrome, Type Ig |
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Hypoplasia of the nasal bone |
OMIM:606943 |
Fraser Syndrome 2 |
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Wide nose, Short neck, Respiratory failure, Underdeveloped nasal alae |
OMIM:617666 |
Shwachman-Diamond Syndrome 1 |
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Acute myeloid leukemia, Pancytopenia, Thrombocytopenia, Nephrocalcinosis, Persistence of hemoglob... |
OMIM:260400 |
Hemorrhagic Fever-Renal Syndrome |
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Back pain, Respiratory distress, Pneumonia, Epistaxis, Dyspnea, Respiratory failure, Cough, Pleur... |
ORPHA:340 |
Congenital Bile Acid Synthesis Defect Type 2 |
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Rickets |
ORPHA:79303 |
Bile Acid Synthesis Defect, Congenital, 1 |
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Rickets |
OMIM:607765 |
Nocardiosis |
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Respiratory distress, Osteomyelitis, Pneumonia, Productive cough, Nonproductive cough, Dyspnea, P... |
ORPHA:31204 |
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
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Dystonia, Tachypnea, Respiratory insufficiency, Respiratory failure, Death in childhood |
OMIM:618278 |
Fanconi-Bickel Syndrome |
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Osteopenia, Rickets |
ORPHA:2088 |
Mitochondrial Complex I Deficiency, Nuclear Type 1 |
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Death in infancy, Apnea, Microcephaly, Respiratory insufficiency, Respiratory failure |
OMIM:252010 |
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome |
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Hypoplasia of penis, Abnormal hemoglobin, Optic atrophy, Hydronephrosis, Anemia |
ORPHA:847 |
Thymoma |
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Aplastic anemia, Glomerulonephritis, Pure red cell aplasia, Imbalanced hemoglobin synthesis, Leuk... |
ORPHA:99867 |
Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin |
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Persistence of hemoglobin F |
OMIM:617101 |
Acquired Methemoglobinemia |
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Methemoglobinemia |
ORPHA:464453 |
Lead Poisoning |
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Chronic kidney disease, Imbalanced hemoglobin synthesis, Abnormal T cell morphology, Renal tubula... |
ORPHA:330015 |
Congenital Tricuspid Valve Dysplasia |
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Hypoxemia, Respiratory failure requiring assisted ventilation, Respiratory failure, Tachypnea |
ORPHA:555874 |
Hypocalciuric Hypercalcemia, Familial, Type Iii |
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Osteomalacia, Chondrocalcinosis |
OMIM:600740 |
Distal Renal Tubular Acidosis |
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Osteomalacia, Respiratory insufficiency due to muscle weakness, Rickets, Increased susceptibility... |
ORPHA:18 |
Diamond-Blackfan Anemia 1 |
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Macrocytic anemia, Congenital hypoplastic anemia, Primary congenital glaucoma, Reticulocytopenia,... |
OMIM:105650 |
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young |
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Rickets |
OMIM:616026 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9 |
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Respiratory failure |
OMIM:616538 |
Hypophosphatemic Rickets And Hyperparathyroidism |
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Hypophosphatemic rickets, Rickets |
OMIM:612089 |
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked |
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Hypospadias, Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia, Micropenis, HbH h... |
OMIM:301040 |
Joubert Syndrome 21 |
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Apnea, Dyspnea, Single naris, Respiratory failure, Chronic sinusitis |
OMIM:615636 |
Malignant Atrophic Papulosis |
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Pleural effusion, Respiratory failure |
ORPHA:679 |
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type |
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Rickets |
OMIM:219900 |
Fanconi-Bickel Syndrome |
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Rickets, Osteomalacia |
OMIM:227810 |
Niemann-Pick Disease Type C |
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Axial dystonia, Limb dystonia, Tremor, Respiratory insufficiency, Respiratory failure, Aspiration... |
ORPHA:646 |
Bickerstaff Brainstem Encephalitis |
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Respiratory failure requiring assisted ventilation, Pneumonia, Hypercapnia, Dyspnea, Respiratory ... |
ORPHA:79138 |
Pancreatic Triacylglycerol Lipase Deficiency |
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Osteoporosis, Osteomalacia, Rickets |
ORPHA:309031 |
Autosomal Recessive Polycystic Kidney Disease |
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Hypoventilation, Spontaneous pneumothorax, Micrognathia, Recurrent pneumonia, Depressed nasal rid... |
ORPHA:731 |
Norrie Disease |
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Retinal detachment, Aplasia/Hypoplasia of the lens, Corneal opacity, Cataract, Sclerocornea, Ecto... |
ORPHA:649 |
Generalized Arterial Calcification Of Infancy |
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Respiratory distress, Abnormality of the knee, Calcification of the auricular cartilage, Osteomal... |
ORPHA:51608 |
Full Nf2-Related Schwannomatosis |
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Posterior subcapsular cataract, Remnants of the hyaloid vascular system, Cortical cataract |
ORPHA:637 |
Steinert Myotonic Dystrophy |
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Respiratory insufficiency due to muscle weakness, Respiratory failure requiring assisted ventilat... |
ORPHA:273 |
Neuroocular Syndrome |
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Cataract, Remnants of the hyaloid vascular system, Brushfield spots, Lens coloboma, Blue irides, ... |
OMIM:619539 |
Mitochondrial Complex I Deficiency, Nuclear Type 32 |
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Respiratory failure, Death in childhood |
OMIM:618252 |
Acromelic Frontonasal Dysostosis |
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Remnants of the hyaloid vascular system, Optic nerve hypoplasia |
OMIM:603671 |
Infantile Nephropathic Cystinosis |
|
Rickets |
ORPHA:411629 |
Familial Hypocalciuric Hypercalcemia |
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Osteomalacia, Chondrocalcinosis |
ORPHA:405 |
Immunodeficiency 82 With Systemic Inflammation |
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Osteomyelitis, Osteomalacia, Pneumonia, Bronchiectasis, Arthritis, Joint swelling |
OMIM:619381 |
Cystinosis, Nephropathic |
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Hypophosphatemic rickets, Rickets, Genu valgum |
OMIM:219800 |
Tuberous Sclerosis Complex |
|
Respiratory distress, Respiratory failure |
ORPHA:805 |
Microphthalmia, Syndromic 2 |
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Retinal detachment, Remnants of the hyaloid vascular system, Hypospadias, Developmental cataract,... |
OMIM:300166 |
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 |