Granulomas, Congenital Cerebral |
|
Neonatal death |
OMIM:306300 |
Genitourinary Tract Anomalies |
|
Neonatal death |
OMIM:305690 |
Cataract 20, Multiple Types |
|
Cataract, Membranous cataract |
OMIM:116100 |
Hemoglobin D Disease |
|
Reduced alpha/beta synthesis ratio, Imbalanced hemoglobin synthesis, Sickled erythrocytes, Anemia... |
ORPHA:90039 |
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 |
Cataract 4, Multiple Types |
|
Developmental cataract |
OMIM:115700 |
Cataract 39, Multiple Types |
|
Developmental cataract |
OMIM:615188 |
Cataract 13 With Adult I Phenotype |
|
Developmental cataract |
OMIM:116700 |
Cataract 37 |
|
Developmental cataract |
OMIM:614422 |
Cataract 45 |
|
Developmental cataract |
OMIM:616851 |
Cataract 38 |
|
Developmental cataract |
OMIM:614691 |
Hemoglobin-Delta locus |
|
Imbalanced hemoglobin synthesis, Anemia |
OMIM:142000 |
Hemoglobin E-Beta-Thalassemia Syndrome |
|
Anemia, Abnormal hemoglobin |
ORPHA:231249 |
Cataract And Congenital Ichthyosis |
|
Cataract |
OMIM:212400 |
Hypertrophic Neuropathy And Cataract |
|
Cataract |
OMIM:239900 |
Cochleosaccular Degeneration With Progressive Cataracts |
|
Progressive cataract |
OMIM:120040 |
Thalassemia, Beta+, Silent Allele |
|
Reduced beta/alpha synthesis ratio |
OMIM:187550 |
Fetal Hemoglobin Quantitative Trait Locus 1 |
|
Persistence of hemoglobin F |
OMIM:141749 |
Spondyloepiphyseal Dysplasia With Atlantoaxial Instability |
|
Spondylolysis, Os odontoideum, Spondylolisthesis at L5-S1, Atlantoaxial instability, Ankle clonus... |
OMIM:600561 |
Aniridia 3 |
|
Cataract |
OMIM:617142 |
Corneal Dystrophy, Groenouw Type I |
|
Nodular corneal dystrophy, Granular corneal dystrophy, Cataract, Punctate corneal dystrophy |
OMIM:121900 |
Delta-Beta-Thalassemia |
|
Microcytic anemia, Anemia, Abnormal hemoglobin |
ORPHA:231237 |
Acetophenetidin Sensitivity |
|
Methemoglobinemia, Hemolytic anemia |
OMIM:200300 |
Beta-Thalassemia, Dominant Inclusion Body Type |
|
Splenomegaly, Persistence of hemoglobin F, Microcytic anemia, Erythrocyte inclusion bodies, Decre... |
OMIM:603902 |
Hemoglobin H Disease |
|
Reduced alpha/beta synthesis ratio, Hemolytic anemia, HbH hemoglobin, Splenomegaly |
OMIM:613978 |
Hemoglobin C-Beta-Thalassemia Syndrome |
|
Microcytic anemia, Anemia, Abnormal hemoglobin, Splenomegaly |
ORPHA:231242 |
Pyknoachondrogenesis |
|
Stillbirth |
OMIM:265880 |
Cataract 12, Multiple Types |
|
Developmental cataract, Progressive cataract |
OMIM:611597 |
Nemaline Myopathy 9 |
|
Micrognathia, Scoliosis, Arthrogryposis multiplex congenita, Respiratory insufficiency |
OMIM:615731 |
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant |
|
Micrognathia, Respiratory insufficiency due to muscle weakness, Arthrogryposis multiplex congenit... |
OMIM:618291 |
Cataract-Nephropathy-Encephalopathy Syndrome |
|
Renal tubular dysfunction, Cataract |
ORPHA:1380 |
Spondylometaphyseal Dysplasia, X-Linked |
|
Hip contracture, Respiratory insufficiency, Platyspondyly, Knee flexion contracture, Kyphosis, En... |
OMIM:313420 |
Congenital Arthrogryposis With Anterior Horn Cell Disease |
|
Micrognathia, Neonatal death, Respiratory insufficiency due to muscle weakness, Arthrogryposis mu... |
OMIM:611890 |
Hydrocephaly-Cerebellar Agenesis Syndrome |
|
Cataract |
ORPHA:1397 |
Hemolytic Anemia Due To Glutathione Reductase Deficiency |
|
Fava bean-induced hemolytic anemia, Cataract |
OMIM:618660 |
Aldh18A1-Related De Barsy Syndrome |
|
Cataract |
ORPHA:35664 |
Lethal Osteosclerotic Bone Dysplasia |
|
Micrognathia, Mandibular aplasia, Respiratory distress, Dyspnea, Retrognathia, Respiratory failur... |
ORPHA:1832 |
Trichomegaly |
|
Cataract |
OMIM:190330 |
Methemoglobinemia, Beta Type |
|
Methemoglobinemia |
OMIM:617971 |
Methemoglobinemia, Alpha Type |
|
Methemoglobinemia |
OMIM:617973 |
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome |
|
Thrombocytopenia, Anemia, Abnormal hemoglobin, Splenomegaly |
ORPHA:231393 |
Spinal Muscular Atrophy-Dandy-Walker Malformation-Cataracts Syndrome |
|
Cataract |
ORPHA:73245 |
Metatropic Dysplasia |
|
Respiratory insufficiency, Long coccyx, Arthrogryposis multiplex congenita, Platyspondyly, Kyphos... |
OMIM:156530 |
Hemoglobin E Disease |
|
Hypochromia, Hypochromic microcytic anemia, Increased red blood cell count, Abnormal hemoglobin, ... |
ORPHA:2133 |
Myopathy, Areflexia, Respiratory Distress, And Dysphagia, Early-Onset |
|
Respiratory insufficiency, Respiratory failure, Respiratory distress, Camptodactyly of finger, Re... |
OMIM:614399 |
Alpha-Thalassemia Myelodysplasia Syndrome |
|
Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia |
OMIM:300448 |
Pupillary Membrane, Persistence Of |
|
Developmental cataract, Persistent pupillary membrane, Megalocornea |
OMIM:178900 |
Cataract-Microcornea Syndrome |
|
Corneal dystrophy, Iris coloboma, Corneal opacity, Cataract, Microcornea |
ORPHA:1377 |
Galactosemia Ii |
|
Galactosuria, Cataract |
OMIM:230200 |
Nathalie Syndrome |
|
Cataract |
ORPHA:2663 |
Pulmonary Hypoplasia, Primary |
|
Neonatal death |
OMIM:265430 |
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
|
Persistence of hemoglobin F, Anemia, Splenomegaly |
ORPHA:46532 |
Thumb, Hypoplastic, With Choroid Coloboma, Poorly Developed Antihelix, And Deafness |
|
Cataract |
OMIM:274205 |
Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities |
|
Cataract |
OMIM:300719 |
Thanatophoric Dysplasia, Glasgow Variant |
|
Hepatosplenomegaly, Anemia, Cataract |
OMIM:273680 |
Arthrogryposis, Distal, With Mental Retardation And Characteristic Facies |
|
Respiratory failure, Distal arthrogryposis, Arthrogryposis multiplex congenita, Respiratory insuf... |
OMIM:208081 |
Congenital Muscular Dystrophy, Ullrich Type |
|
Micrognathia, Knee flexion contracture, Kyphosis, Hip dislocation, Spinal rigidity, Respiratory f... |
ORPHA:75840 |
Cataract 47 |
|
Microcornea, Cataract, Glycosuria |
OMIM:612018 |
Myopathy, Mitochondrial Progressive, With Congenital Cataract And Developmental Delay |
|
Developmental cataract, Cataract |
OMIM:613076 |
Alpha-N-Acetylgalactosaminidase Deficiency Type 3 |
|
Cataract |
ORPHA:79281 |
Foveal Hypoplasia-Presenile Cataract Syndrome |
|
Cataract |
ORPHA:2253 |
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A |
|
Limited elbow flexion, Abnormal respiratory system physiology, Respiratory insufficiency, Reduced... |
ORPHA:266 |
Galactosemia Iv |
|
Cataract |
OMIM:618881 |
Hernia, Anterior Diaphragmatic |
|
Neonatal death |
OMIM:306950 |
Hyperekplexia 4 |
|
Distal arthrogryposis, Kyphoscoliosis, Flexion contracture, Camptodactyly, Respiratory failure |
OMIM:618011 |
Congenital Muscular Dystrophy With Intellectual Disability |
|
Respiratory insufficiency, Decreased cervical spine mobility, Spinal deformities, Hip dislocation... |
ORPHA:370968 |
Mental Retardation, Truncal Obesity, Retinal Dystrophy, And Micropenis Syndrome |
|
Micropenis, Cataract |
OMIM:610156 |
X-Linked Retinoschisis |
|
Cataract |
ORPHA:792 |
Congenital Amegakaryocytic Thrombocytopenia |
|
Thrombocytopenia, Anemia, Abnormal hemoglobin |
ORPHA:3319 |
Cataract 1, Multiple Types |
|
Nuclear cataract, Developmental cataract, Posterior subcapsular cataract, Microcornea, Pulverulen... |
OMIM:116200 |
Muscular Dystrophy, Congenital, 1B |
|
Respiratory failure, Achilles tendon contracture, Spinal rigidity |
OMIM:604801 |
Microphthalmia, Isolated, With Coloboma 3 |
|
Cataract, Iris coloboma |
OMIM:610092 |
Fibrodysplasia Ossificans Progressiva |
|
Ectopic ossification in muscle tissue, Respiratory insufficiency, Ectopic ossification in ligamen... |
OMIM:135100 |
Microphthalmia, Isolated, With Cataract 1 |
|
Cataract |
OMIM:156850 |
Cyanosis, Transient Neonatal |
|
Reticulocytosis, Methemoglobinemia, Anemia |
OMIM:613977 |
Cataract 9, Multiple Types |
|
Developmental cataract, Progressive cataract, Iris coloboma, Cataract, Microcornea |
OMIM:604219 |
Chorea, Remitting, With Nystagmus And Cataract |
|
Cataract |
OMIM:601372 |
Genetic Hyperferritinemia Without Iron Overload |
|
Cataract |
ORPHA:254704 |
Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract |
|
Aniridia, Microcornea, Cataract |
OMIM:106230 |
Pontocerebellar Hypoplasia, Type 1C |
|
Respiratory failure, Respiratory insufficiency, Flexion contracture |
OMIM:616081 |
Beta-Thalassemia |
|
Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia |
OMIM:613985 |
Alpha-Thalassemia |
|
Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia |
OMIM:604131 |
Spastic Paraparesis And Deafness |
|
Cataract |
OMIM:312910 |
Cataract 15, Multiple Types |
|
Nuclear cataract, Developmental cataract, Lamellar cataract, Cortical cataract, Cataract |
OMIM:615274 |
Bardet-Biedl Syndrome 18 |
|
Renal insufficiency, Cataract |
OMIM:615995 |
Pontocerebellar Hypoplasia, Type 4 |
|
Respiratory failure, Death in infancy, Microcephaly, Congenital contracture |
OMIM:225753 |
Megalocornea |
|
Decreased corneal thickness, Corneal arcus, Lens subluxation, Iris transillumination defect, Irid... |
OMIM:309300 |
Krabbe Disease, Atypical, Due To Saposin A Deficiency |
|
Respiratory failure, Central apnea, Death in infancy, Respiratory insufficiency |
OMIM:611722 |
Muscular Dystrophy, Congenital, With Infantile Cataract And Hypogonadism |
|
Cataract |
OMIM:254000 |
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome |
|
Recurrent aspiration pneumonia, Respiratory insufficiency due to muscle weakness, Tremor, Respira... |
ORPHA:2590 |
Rigid Spine Syndrome |
|
Hip contracture, Pneumonia, Respiratory insufficiency, Hamstring contractures, Spinal rigidity, H... |
ORPHA:97244 |
Mitochondrial Dna Depletion Syndrome, Myopathic Form |
|
Respiratory insufficiency, Respiratory insufficiency due to muscle weakness, Respiratory distress... |
ORPHA:254875 |
Multiple Epiphyseal Dysplasia Type 5 |
|
Abnormal acetabulum morphology, Abnormal hip joint morphology, Delayed proximal femoral epiphysea... |
ORPHA:93311 |
Vacterl Association With Hydrocephalus |
|
Abnormality of the vertebral column, Respiratory insufficiency, Radial club hand, Abnormal verteb... |
OMIM:276950 |
Alpha-Thalassemia |
|
Anemia, Abnormal hemoglobin, Splenomegaly, Hypersplenism, Microcytic anemia, Hemolytic anemia |
ORPHA:846 |
Spinocerebellar Ataxia, Autosomal Recessive 24 |
|
Cataract |
OMIM:617133 |
Hereditary Motor And Sensory Neuropathy, Okinawa Type |
|
Cough, Tremor, Respiratory failure, Dyspnea, Respiratory failure requiring assisted ventilation, ... |
ORPHA:90117 |
Nemaline Myopathy 8 |
|
Respiratory failure, Death in infancy, Flexion contracture |
OMIM:615348 |
Anterior Segment Dysgenesis 8 |
|
Persistent pupillary membrane, Hypoplasia of the iris, Ectopia lentis, Microphakia, Iris transill... |
OMIM:617319 |
Iris Pigment Layer, Cleavage Of |
|
Cataract |
OMIM:147610 |
Myopathy, Myofibrillar, Fatal Infantile Hypertonic, Alpha-B Crystallin-Related |
|
Respiratory failure, Apnea, Respiratory insufficiency, Flexion contracture |
OMIM:613869 |
Cataract 10, Multiple Types |
|
Posterior Y-sutural cataract, Developmental cataract, Zonular cataract |
OMIM:600881 |
Diamond-Blackfan Anemia 3 |
|
Macrocytic anemia, Reticulocytopenia, Increased mean corpuscular volume, Persistence of hemoglobin F |
OMIM:610629 |
Cataract 41 |
|
Nuclear cataract, Developmental cataract |
OMIM:116400 |
Atelosteogenesis, Type Ii |
|
Micrognathia, Death in infancy, Increased intervertebral space, Coronal cleft vertebrae, Horizont... |
OMIM:256050 |
Developmental And Epileptic Encephalopathy 71 |
|
Respiratory failure, Respiratory insufficiency |
OMIM:618328 |
Multiple Mitochondrial Dysfunctions Syndrome 3 |
|
Respiratory insufficiency, Arthrogryposis multiplex congenita, Retrognathia, Respiratory failure,... |
OMIM:615330 |
Rhizomelic Chondrodysplasia Punctata, Type 1 |
|
Micrognathia, Coronal cleft vertebrae, Respiratory insufficiency, Epiphyseal stippling, Kyphoscol... |
OMIM:215100 |
Exfoliation Syndrome |
|
Mydriasis, Abnormality of the lens, Lens subluxation, Iris hypoperfusion, Phakodonesis, Pseudoexf... |
OMIM:177650 |
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome |
|
Spinal deformities, Respiratory insufficiency due to muscle weakness, Kyphosis, Spinal rigidity, ... |
ORPHA:352447 |
Alg1-Cdg |
|
Kyphosis, Progressive microcephaly, Limitation of joint mobility, Respiratory failure, Scoliosis |
ORPHA:79327 |
Imperforate Oropharynx-Costovertebral Anomalies Syndrome |
|
Hemivertebrae, Abnormal form of the vertebral bodies, Respiratory distress, Respiratory failure, ... |
ORPHA:2759 |
Spinal Muscular Atrophy, Type I |
|
Respiratory failure, Respiratory insufficiency |
OMIM:253300 |
Cataract 14, Multiple Types |
|
Zonular cataract |
OMIM:601885 |
3-Methylglutaconic Aciduria, Type Viii |
|
Death in infancy, Apnea, Tremor, Respiratory failure, Secondary microcephaly |
OMIM:617248 |
Cataract 3, Multiple Types |
|
Sutural cataract, Developmental cataract, Cerulean cataract, Nuclear pulverulent cataract |
OMIM:601547 |
Aniridia 2 |
|
Aniridia, Cataract |
OMIM:617141 |
Otopalatodigital Syndrome, Type Ii |
|
Nonossified fifth metatarsal, Spondylolysis, Micrognathia, Respiratory insufficiency, Delayed clo... |
OMIM:304120 |
Hypophosphatasia, Adult |
|
Carious teeth, Chondrocalcinosis, Rickets, Increased susceptibility to fractures, Pathologic frac... |
OMIM:146300 |
Alpha-Thalassemia-Myelodysplastic Syndrome |
|
Neutropenia, Acute leukemia, Splenomegaly, Microcytic anemia, Thrombocytopenia, HbH hemoglobin |
ORPHA:231401 |
Mitochondrial Complex I Deficiency, Nuclear Type 30 |
|
Respiratory failure, Neonatal death |
OMIM:301021 |
Cardioneuromyopathy With Hyaline Masses And Nemaline Rods |
|
Respiratory insufficiency, Fusion of midcervical facet joints, Cervical vertebral bodies with dec... |
OMIM:606842 |
Glycine Encephalopathy With Normal Serum Glycine |
|
Hip contracture, Apnea, Arthrogryposis multiplex congenita, Genu recurvatum, Exaggerated startle ... |
OMIM:617301 |
Leber Congenital Amaurosis 7 |
|
Keratoconus, Cataract |
OMIM:613829 |
Muscular Dystrophy, Duchenne Type |
|
Respiratory insufficiency, Hypoventilation, Hyperlordosis, Flexion contracture, Respiratory failu... |
OMIM:310200 |
Cataract 8, Multiple Types |
|
Nuclear cataract, Developmental cataract |
OMIM:115665 |
Fibrodysplasia Ossificans Progressiva |
|
Ectopic ossification in muscle tissue, Respiratory insufficiency, Abnormal vertebral morphology, ... |
ORPHA:337 |
Butyrylcholinesterase Deficiency |
|
Respiratory failure, Respiratory failure requiring assisted ventilation |
ORPHA:132 |
Ceroid Lipofuscinosis, Neuronal, 10 |
|
Respiratory insufficiency, Neonatal death, Apnea, Respiratory failure, Microcephaly |
OMIM:610127 |
Nathalie Syndrome |
|
Cataract |
OMIM:255990 |
Cataract 22, Multiple Types |
|
Nuclear cataract, Developmental cataract |
OMIM:609741 |
Fibuloulnar Aplasia Or Hypoplasia With Renal Abnormalities |
|
Respiratory failure, Micrognathia, Respiratory insufficiency, Neonatal death |
OMIM:228940 |
Osteogenesis Imperfecta, Type Iv |
|
Otosclerosis, Biconcave flattened vertebrae, Increased susceptibility to fractures, Wormian bones... |
OMIM:166220 |
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy |
|
Death in infancy, Respiratory failure, Retrognathia, Flexion contracture, Camptodactyly of finger... |
ORPHA:1194 |
Postsynaptic Congenital Myasthenic Syndromes |
|
Thoracic kyphoscoliosis, Restrictive ventilatory defect, Exertional dyspnea, Orthopnea, Reduced v... |
ORPHA:98913 |
Sandestig-Stefanova Syndrome |
|
Primary microcephaly, Respiratory failure, Retrognathia, Camptodactyly, Prominent metopic ridge, ... |
OMIM:618804 |
Renal Tubular Acidosis, Proximal, With Ocular Abnormalities And Mental Retardation |
|
Proximal renal tubular acidosis, Band keratopathy, Cataract, Bicarbonate-wasting renal tubular ac... |
OMIM:604278 |
Oculopharyngeal Myopathy With Leukoencephalopathy 1 |
|
Respiratory failure, Tremor |
OMIM:618637 |
Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy |
|
Intention tremor, Tremor, Flexion contracture, Respiratory failure, Scoliosis |
OMIM:616505 |
Crisponi Syndrome |
|
Micrognathia, Death in infancy, Respiratory insufficiency, Kyphosis, Limitation of joint mobility... |
ORPHA:1545 |
Ectopia Lentis Et Pupillae |
|
Persistent pupillary membrane, Cataract, Ectopia lentis |
OMIM:225200 |
Hypocalcemic Vitamin D-Resistant Rickets |
|
Bone cyst, Genu varum, Abnormal form of the vertebral bodies, Joint dislocation, Abnormal bone st... |
ORPHA:93160 |
Intermediate Osteopetrosis |
|
Sandwich appearance of vertebral bodies, Abnormality of bone mineral density, Generalized osteosc... |
ORPHA:210110 |
Bruck Syndrome |
|
Respiratory insufficiency, Osteoporosis, Arthrogryposis multiplex congenita, Platyspondyly, Wormi... |
ORPHA:2771 |
Cataract 11, Multiple Types |
|
Cataract |
OMIM:610623 |
Dermatosparaxis Ehlers-Danlos Syndrome |
|
Micrognathia, Abnormal joint morphology, Rickets, Osteoporosis, Joint dislocation, Osteopenia, Hi... |
ORPHA:1901 |
Proximal Myotonic Myopathy |
|
Cataract |
ORPHA:606 |
Proximal Spinal Muscular Atrophy |
|
Restrictive ventilatory defect, Neonatal respiratory distress, Recurrent aspiration pneumonia, In... |
ORPHA:70 |
Cataract 5, Multiple Types |
|
Nuclear cataract, Anterior polar cataract, Lamellar cataract, Zonular cataract, Pulverulent cataract |
OMIM:116800 |
Anterior Segment Dysgenesis 7 |
|
Buphthalmos, Sclerocornea, Cataract, Microcornea, Ocular anterior segment dysgenesis |
OMIM:269400 |
Ichthyosis-Intellectual Disability-Dwarfism-Renal Impairment Syndrome |
|
Aminoaciduria, Cataract |
ORPHA:2278 |
Coats Disease |
|
Cataract, Aplasia/Hypoplasia of the iris, Abnormal anterior chamber morphology |
ORPHA:190 |
Intermediate Nemaline Myopathy |
|
Respiratory failure, Arthrogryposis multiplex congenita, Multiple prenatal fractures, Flexion con... |
ORPHA:171433 |
Peters Anomaly |
|
Opacification of the corneal stroma, Thinning of Descemet membrane, Peters anomaly, Developmental... |
ORPHA:708 |
Aniridia-Intellectual Disability Syndrome |
|
Aniridia, Cataract, Ectopia lentis |
ORPHA:1068 |
Alkaptonuria |
|
Vertebral fusion, Intervertebral disc degeneration, Arthritis, Kyphosis, Limited hip movement, Li... |
OMIM:203500 |
Oculocerebral Hypopigmentation Syndrome Of Preus |
|
Cataract, Hypochromic anemia |
OMIM:257790 |
Sickle Cell Anemia |
|
Leukocytosis, Abnormality of the spleen, Thrombocytosis, Increased mean corpuscular volume, Iron ... |
ORPHA:232 |
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome |
|
Persistent pupillary membrane, Corneal opacity, Cataract, Aplasia/Hypoplasia of the iris |
ORPHA:1067 |
Caffey Disease |
|
Cortical thickening of long bone diaphyses, Respiratory insufficiency, Periosteal thickening of l... |
ORPHA:1310 |
Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Respiratory failure, Wide anterior fontanel, Cardiorespiratory arrest, Hyperlordosis, Restrictive... |
ORPHA:26791 |
Arthrogryposis Multiplex Congenita 6 |
|
Death in infancy, Neonatal death, Arthrogryposis multiplex congenita, Death in childhood, Respira... |
OMIM:619334 |
Microcornea, Rod-Cone Dystrophy, Cataract, And Posterior Staphyloma 1 |
|
Microcornea, Cataract |
OMIM:619082 |
Congenital Neuronal Ceroid Lipofuscinosis |
|
Neonatal respiratory distress, Apnea, Central sleep apnea, Respiratory failure, Microcephaly |
ORPHA:168486 |
Radio-Renal Syndrome |
|
Micrognathia, Abnormality of the elbow, Abnormal form of the vertebral bodies, Respiratory distre... |
ORPHA:3015 |
Hyperferritinemia With Or Without Cataract |
|
Nuclear cataract, Pulverulent cataract |
OMIM:600886 |
Autosomal Recessive Hypophosphatemic Rickets |
|
Polyarticular arthritis, Spinal canal stenosis, Genu varum, Enlargement of the wrists, Abnormal s... |
ORPHA:289176 |
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia |
|
Respiratory failure, Death in infancy, Respiratory insufficiency |
OMIM:614299 |
Amoebic Keratitis |
|
Corneal perforation, Decreased corneal sensation, Corneal stromal edema, Iris atrophy, Abnormal c... |
ORPHA:67043 |
Sillence Syndrome |
|
Abnormal vertebral morphology, Intervertebral disc degeneration, Platyspondyly, Back pain, Scolio... |
ORPHA:3168 |
Combined Oxidative Phosphorylation Deficiency 51 |
|
Respiratory failure, Neonatal respiratory distress, Aspiration pneumonia |
OMIM:619057 |
Combined Oxidative Phosphorylation Deficiency 28 |
|
Respiratory failure |
OMIM:616794 |
Galactose Epimerase Deficiency |
|
Aminoaciduria, Cataract, Splenomegaly |
ORPHA:79238 |
Multiple Mitochondrial Dysfunctions Syndrome 1 |
|
Respiratory failure, Pulmonary arterial hypertension, Respiratory insufficiency |
OMIM:605711 |
Spinal Muscular Atrophy With Congenital Bone Fractures 2 |
|
Neonatal respiratory distress, Arthrogryposis multiplex congenita, Multiple prenatal fractures, F... |
OMIM:616867 |
3-Methylglutaconic Aciduria Type 4 |
|
3-Methylglutaconic aciduria, Iris hypopigmentation, Cataract, Thrombocytopenia |
ORPHA:67048 |
Asymmetric Short Stature Syndrome |
|
Micrognathia, Lumbar scoliosis, Fused cervical vertebrae |
OMIM:108450 |
Leber Congenital Amaurosis 6 |
|
Keratoconus, Cataract |
OMIM:613826 |
Hereditary Motor And Sensory Neuropathy, Type Iic |
|
Intercostal muscle weakness, Stridor, Obstructive sleep apnea, Respiratory failure, Scoliosis |
OMIM:606071 |
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria) |
|
Neonatal respiratory distress, Death in infancy, Respiratory insufficiency, Neonatal death, Death... |
OMIM:245400 |
Asbestos Intoxication |
|
Wheezing, Restrictive ventilatory defect, Hypoxemia, Exertional dyspnea, Dyspnea, Late inspirator... |
ORPHA:2302 |
Hypophosphatemic Rickets, Autosomal Recessive, 1 |
|
Craniosynostosis, Increased bone mineral density, Hypophosphatemic rickets, Rickets |
OMIM:241520 |
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Mental Retardation |
|
Hematuria, Cataract |
OMIM:120433 |
Cataract-Intellectual Disability-Anal Atresia-Urinary Defects Syndrome |
|
Hypospadias, Hypoplasia of penis, Cataract, Aplasia/Hypoplasia of the lens |
ORPHA:1381 |
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome |
|
Micrognathia, Fractures of the long bones, Arthrogryposis multiplex congenita, Congenital hip dis... |
ORPHA:496641 |
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor |
|
Genu varum, Thin bony cortex, Generalized bone demineralization, Rickets, Delayed epiphyseal ossi... |
OMIM:600785 |
Retinitis Pigmentosa 84 |
|
Cataract |
OMIM:618220 |
Cataract 43 |
|
Subcapsular cataract |
OMIM:616279 |
Autosomal Dominant Keratitis |
|
Abnormality of the corneal limbus, Aniridia, Hypoplastic iris stroma, Limbal stem cell deficiency... |
ORPHA:2334 |
Osteopetrosis, Autosomal Recessive 5 |
|
Micrognathia, Osteopetrosis, Stillbirth, Respiratory failure, Microcephaly |
OMIM:259720 |
Congenital Fiber-Type Disproportion Myopathy |
|
Ankle flexion contracture, Micrognathia, Hypoxemia, Intercostal muscle weakness, Hip contracture,... |
ORPHA:2020 |
Leber Congenital Amaurosis 8 |
|
Cataract, Keratoconus |
OMIM:613835 |
Scedosporiosis |
|
Sinusitis, Arthralgia/arthritis, Bronchial breath sound, Abnormal respiratory system physiology, ... |
ORPHA:449280 |
Anterior Segment Dysgenesis 1 |
|
Posterior polar cataract, Peters anomaly, Opacification of the corneal stroma, Microcornea, Ocula... |
OMIM:107250 |
Kahrizi Syndrome |
|
Cataract, Iris coloboma |
OMIM:612713 |
Anterior Segment Dysgenesis 2 |
|
Anterior segment of eye aplasia, Sclerocornea, Congenital aphakia, Aniridia, Peters anomaly, Post... |
OMIM:610256 |
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability |
|
Posterior embryotoxon, Hematuria, Iris coloboma, Corneal opacity, Cataract |
ORPHA:1473 |
Myopia, High, With Cataract And Vitreoretinal Degeneration |
|
Cataract, Lens subluxation |
OMIM:614292 |
Stickler Syndrome Type 2 |
|
Corneal opacity, Cataract |
ORPHA:90654 |
Epidermolysis Bullosa Simplex 7, With Nephropathy And Deafness |
|
Reduced beta/alpha synthesis ratio, Nephritis, Stage 5 chronic kidney disease |
OMIM:609057 |
Vitamin D-Dependent Rickets, Type 2A |
|
Carious teeth, Thin bony cortex, Rickets, Enlargement of the wrists, Delayed epiphyseal ossificat... |
OMIM:277440 |
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy |
|
Intercostal muscle weakness, Respiratory insufficiency, Pulmonary arterial hypertension, Aspirati... |
ORPHA:258 |
Cataract 30, Multiple Types |
|
Posterior polar cataract, Pulverulent cataract, Diffuse nuclear cataract |
OMIM:116300 |
Methemoglobinemia And Ambiguous Genitalia |
|
Hypospadias, Micropenis, Methemoglobinemia |
OMIM:250790 |
Lethal Congenital Contracture Syndrome 2 |
|
Respiratory failure, Micrognathia, Arthrogryposis multiplex congenita |
OMIM:607598 |
Isolated Aniridia |
|
Aniridia, Cataract, Peters anomaly |
ORPHA:250923 |
Vitamin D Hydroxylation-Deficient Rickets, Type 1A |
|
Thin bony cortex, Rickets, Enlargement of the wrists, Delayed epiphyseal ossification, Delayed er... |
OMIM:264700 |
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts |
|
Cystic renal dysplasia, Ectopic kidney, Cataract |
OMIM:613730 |
Spinal Muscular Atrophy, Distal, Autosomal Recessive, 1 |
|
Tachypnea, Ventilator dependence with inability to wean, Camptodactyly of finger, Respiratory fai... |
OMIM:604320 |
Beta-Thalassemia |
|
Anemia, Abnormal hemoglobin, Splenomegaly, Microcytic anemia, Thrombocytopenia |
ORPHA:848 |
Combined Oxidative Phosphorylation Deficiency 52 |
|
Respiratory failure, Death in infancy |
OMIM:619386 |
Aniridia And Absent Patella |
|
Aniridia, Cataract |
OMIM:106220 |
X-Linked Skeletal Dysplasia-Intellectual Disability Syndrome |
|
Abnormal sacrum morphology, Thoracic hemivertebrae, Scoliosis, Fused cervical vertebrae |
ORPHA:1436 |
Frontometaphyseal Dysplasia 1 |
|
Increased density of long bone diaphyses, Ankle flexion contracture, Stridor, Partial fusion of c... |
OMIM:305620 |
Pellagra-Like Syndrome |
|
Cataract |
OMIM:260650 |
Hypocalcemic Vitamin D-Dependent Rickets |
|
Genu varum, Thin bony cortex, Rickets, Enlargement of the wrists, Increased susceptibility to fra... |
ORPHA:289157 |
Myopathy, Centronuclear, X-Linked |
|
Respiratory failure, Neonatal respiratory distress, Respiratory failure requiring assisted ventil... |
OMIM:310400 |
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type |
|
Respiratory failure, Obstructive sleep apnea, Central sleep apnea |
ORPHA:70472 |
Vitamin D Hydroxylation-Deficient Rickets, Type 1B |
|
Thin bony cortex, Rickets, Enlargement of the wrists, Delayed epiphyseal ossification, Widely pat... |
OMIM:600081 |
Cataract 16, Multiple Types |
|
Posterior polar cataract, Developmental cataract |
OMIM:613763 |
Neu-Laxova Syndrome |
|
Micrognathia, Pterygium, Opisthotonus, Rickets, Osteoporosis, Arthrogryposis multiplex congenita,... |
ORPHA:2671 |
Fibrous Dysplasia Of Bone |
|
Thin bony cortex, Fibrous dysplasia of the bones, Rickets, Abnormal bone structure, Abnormality o... |
ORPHA:249 |
Hypophosphatemic Rickets, X-Linked Dominant |
|
Spinal canal stenosis, Enamel hypomineralization, Osteomalacia, Osteoarthritis, Hypophosphatemic ... |
OMIM:307800 |
Bone Marrow Failure Syndrome 6 |
|
Neutropenia, Increased mean corpuscular volume, Anemia, Persistence of hemoglobin F, Lymphopenia |
OMIM:618849 |
Myopathy, Myofibrillar, 9, With Early Respiratory Failure |
|
Respiratory failure, Achilles tendon contracture, Nocturnal hypoventilation, Reduced vital capacity |
OMIM:603689 |
Mental Retardation, Skeletal Dysplasia, And Abducens Palsy |
|
Prominent metopic ridge, Thoracic hemivertebrae, Scoliosis, Fused cervical vertebrae |
OMIM:309620 |
Staphylococcal Necrotizing Pneumonia |
|
Hypoxemia, Pneumonia, Tachypnea, Pneumothorax, Cough, Pleural empyema, Respiratory distress, Acut... |
ORPHA:36238 |
Cataract 31, Multiple Types |
|
Nuclear cataract, Posterior subcapsular cataract, Anterior subcapsular cataract |
OMIM:605387 |
Pneumocystosis |
|
Hypoxemia, Respiratory insufficiency, Interstitial pneumonitis, Exertional dyspnea, Acute infecti... |
ORPHA:723 |
Congenital Multicore Myopathy With External Ophthalmoplegia |
|
Abnormal respiratory system physiology, Pneumonia, Flexion contracture, Respiratory failure, Scol... |
ORPHA:98905 |
Mitochondrial Complex I Deficiency, Nuclear Type 18 |
|
Respiratory failure, Death in infancy |
OMIM:618240 |
Hepatic Veno-Occlusive Disease |
|
Respiratory failure |
ORPHA:890 |
X-Linked Hypophosphatemia |
|
Genu varum, Sacroiliac joint synovitis, Rickets, Vertebral hyperostosis, Generalized osteoscleros... |
ORPHA:89936 |
Osteomalacia, Sclerosing, With Cerebral Calcification |
|
Generalized osteosclerosis, Osteomalacia, Increased bone mineral density |
OMIM:259660 |
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6 |
|
Respiratory failure, Ankle clonus |
OMIM:613954 |
Oculocerebrofacial Syndrome, Kaufman Type |
|
Micrognathia, Respiratory distress, Retrognathia, Respiratory failure, Dyspnea, Microcephaly |
ORPHA:2707 |
Hb Bart'S Hydrops Fetalis |
|
Anemia, Abnormal hemoglobin, Splenomegaly |
ORPHA:163596 |
Motor Neuron Disease With Dementia And Ophthalmoplegia |
|
Respiratory failure, Respiratory insufficiency |
OMIM:600333 |
Combined Oxidative Phosphorylation Deficiency 4 |
|
Respiratory failure, Death in infancy, Opisthotonus, Microcephaly |
OMIM:610678 |
Interstitial Pneumonitis, Desquamative, Familial |
|
Tachypnea, Respiratory distress, Respiratory failure, Cough |
OMIM:263000 |
Severe Neurodegenerative Syndrome With Lipodystrophy |
|
Respiratory failure, Tremor |
ORPHA:363400 |
Hypophosphatemic Rickets With Hypercalciuria, Hereditary |
|
Thin bony cortex, Rickets, Enlargement of the wrists, Delayed epiphyseal ossification, Widely pat... |
OMIM:241530 |
Intellectual Developmental Disorder And Retinitis Pigmentosa |
|
Cataract |
OMIM:618195 |
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1B |
|
Tarsal synostosis, Antecubital pterygium, Fused cervical vertebrae, Short neck, Flexion contractu... |
OMIM:618469 |
Cochleosaccular Degeneration-Cataract Syndrome |
|
Cataract |
ORPHA:3233 |
Cataract, Age-Related Nuclear |
|
Nuclear cataract |
OMIM:601371 |
Aneurysm-Osteoarthritis Syndrome |
|
Knee osteoarthritis, Osteoporosis, Intervertebral disc degeneration, Osteoarthritis of the small ... |
ORPHA:284984 |
Leigh Syndrome |
|
Respiratory failure, Respiratory insufficiency, Abnormal pattern of respiration |
OMIM:256000 |
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii |
|
Micrognathia, Abnormal intervertebral disk morphology, Rickets, Osteoporosis, Abnormal form of th... |
ORPHA:2636 |
Surfactant Metabolism Dysfunction, Pulmonary, 3 |
|
Hypoxemia, Neonatal respiratory distress, Death in infancy, Nonspecific interstitial pneumonia, T... |
OMIM:610921 |
Acute Interstitial Pneumonia |
|
Hypoxemia, Crackles, Bronchiectasis, Tachypnea, Decreased DLCO, Nonproductive cough, Respiratory ... |
ORPHA:79126 |
Hypophosphatemic Rickets, X-Linked Recessive |
|
Thin bony cortex, Rickets, Enlargement of the wrists, Delayed epiphyseal ossification, Recurrent ... |
OMIM:300554 |
Alport Syndrome 2, Autosomal Recessive |
|
Corneal erosion, Nephrotic syndrome, Hematuria, Nephritis, Stage 5 chronic kidney disease, Anteri... |
OMIM:203780 |
Peroxisome Biogenesis Disorder 4A (Zellweger) |
|
Respiratory failure, Death in infancy, Epiphyseal stippling |
OMIM:614862 |
Neuromyelitis Optica Spectrum Disorder |
|
Respiratory failure |
ORPHA:71211 |
Short Rib-Polydactyly Syndrome |
|
Absent or minimally ossified vertebral bodies, Abnormal pelvis bone ossification, Abnormal hand b... |
ORPHA:1505 |
Primary Familial Polycythemia |
|
Polycythemia, Abnormal hemoglobin |
ORPHA:90042 |
Polycystic Kidney, Cataract, And Congenital Blindness |
|
Microcoria, Polycystic kidney dysplasia, Cataract |
OMIM:263100 |
Cataract 33, Multiple Types |
|
Nuclear cataract, Lamellar cataract, Cortical cataract |
OMIM:611391 |
Spinocerebellar Ataxia Type 1 |
|
Respiratory failure, Postural tremor |
ORPHA:98755 |
Immunodeficiency 54 |
|
Respiratory failure, Respiratory insufficiency, Microcephaly |
OMIM:609981 |
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14 |
|
Epiphyseal stippling, Camptodactyly, Restrictive ventilatory defect, Respiratory failure, Hypopla... |
ORPHA:96334 |
Surfactant Metabolism Dysfunction, Pulmonary, 2 |
|
Hypoxemia, Respiratory insufficiency, Interstitial pneumonitis, Nonspecific interstitial pneumoni... |
OMIM:610913 |
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase |
|
Polycythemia, Methemoglobinemia |
OMIM:250800 |
Central Hypoventilation Syndrome, Congenital, 3 |
|
Respiratory failure, Central hypoventilation, Apnea |
OMIM:619483 |
Surfactant Metabolism Dysfunction, Pulmonary, 1 |
|
Neonatal respiratory distress, Death in infancy, Tachypnea, Neonatal death, Pulmonary arterial hy... |
OMIM:265120 |
Hypogonadism-Cataract Syndrome |
|
Cataract |
OMIM:240950 |
Peroxisome Biogenesis Disorder 10B |
|
Cataract, Neurogenic bladder, Nephrocalcinosis |
OMIM:617370 |
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion |
|
Wrist flexion contracture, Respiratory failure, Flexion contracture, Camptodactyly, Flexion contr... |
ORPHA:254528 |
Glycogen Storage Disease Due To Acid Maltase Deficiency |
|
Respiratory insufficiency, Respiratory insufficiency due to muscle weakness, Osteoporosis, Exerti... |
ORPHA:365 |
Avian Influenza |
|
Productive cough, Hypoxemia, Pneumonia, Tachypnea, Pneumothorax, Cough, Respiratory distress, Non... |
ORPHA:454836 |
Vitreoretinal Degeneration, Snowflake Type |
|
Corneal guttata, Cataract |
OMIM:193230 |
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Respiratory insufficiency, Elbow flexion contracture, Apnea, Knee flexion contracture, Respirator... |
OMIM:608836 |
Acute Lung Injury |
|
Hypoxemia, Pneumonia, Tachypnea, Respiratory distress, Respiratory failure, Dyspnea |
ORPHA:178320 |
Infant Acute Respiratory Distress Syndrome |
|
Hypoxemia, Pneumonia, Tachypnea, Respiratory failure, Nasal flaring, Atelectasis |
ORPHA:70587 |
Rajab Interstitial Lung Disease With Brain Calcifications 1 |
|
Thin bony cortex, Respiratory insufficiency, Rickets, Tachypnea, Cough, Reduced bone mineral dens... |
OMIM:613658 |
Myhre Syndrome |
|
Vertebral fusion, Respiratory insufficiency, Mandibular prognathia, Platyspondyly, Enlarged verte... |
OMIM:139210 |
Infantile Systemic Hyalinosis |
|
Increased susceptibility to fractures, Osteoporosis, Osteopenia, Short neck, Recurrent fractures,... |
ORPHA:2176 |
Ear-Patella-Short Stature Syndrome |
|
Micrognathia, Patellar aplasia, Mandibular aplasia, Craniosynostosis, Elbow dislocation, Joint hy... |
ORPHA:2554 |
Mitochondrial Complex I Deficiency, Nuclear Type 10 |
|
Respiratory failure, Central hypoventilation, Apnea |
OMIM:618233 |
Hypophosphatemic Rickets, Autosomal Dominant |
|
Osteomalacia, Hypophosphatemic rickets, Rickets |
OMIM:193100 |
Severe Congenital Nemaline Myopathy |
|
Respiratory failure, Arthrogryposis multiplex congenita, Multiple prenatal fractures, Flexion con... |
ORPHA:171430 |
Autosomal Dominant Hypophosphatemic Rickets |
|
Osteomalacia, Tooth abscess, Rickets |
ORPHA:89937 |
Kyrle Disease |
|
Posterior subcapsular cataract |
OMIM:149500 |
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 1 |
|
Respiratory failure, Death in infancy, Tremor |
OMIM:617186 |
Arterial Tortuosity Syndrome |
|
Craniosynostosis, Hip dislocation, Respiratory distress, Cardiorespiratory arrest, Respiratory fa... |
ORPHA:3342 |
Costello Syndrome |
|
Micrognathia, Respiratory insufficiency, Obstructive sleep apnea, Pneumothorax, Achilles tendon c... |
OMIM:218040 |
Idiopathic Pulmonary Hemosiderosis |
|
Restrictive ventilatory defect, Crackles, Cough, Respiratory failure, Dyspnea |
ORPHA:99931 |
Mccune-Albright Syndrome |
|
Fibrous dysplasia of the bones, Polyostotic fibrous dysplasia, Aneurysmal bone cyst, Monostotic f... |
ORPHA:562 |
Norrie Disease |
|
Opacification of the corneal stroma, Shallow anterior chamber, Cataract, Hypoplasia of the iris |
OMIM:310600 |
Adult Acute Respiratory Distress Syndrome |
|
Hypoxemia, Pneumonia, Abnormal blood gas level, Respiratory failure, Dyspnea |
ORPHA:70578 |
Peripartum Cardiomyopathy |
|
Paroxysmal dyspnea, Crackles, Pulmonary arterial hypertension, Exertional dyspnea, Orthopnea, Ast... |
ORPHA:563 |
Cholestasis, Progressive Familial Intrahepatic, 1 |
|
Wheezing, Epistaxis, Osteopenia, Rickets |
OMIM:211600 |
Primary Ciliary Dyskinesia |
|
Wheezing, Productive cough, Neonatal respiratory distress, Bronchiectasis, Chronic rhinitis, Chro... |
ORPHA:244 |
Pulmonary Alveolar Microlithiasis |
|
Restrictive ventilatory defect, Hypoxemia, Respiratory insufficiency, Bronchiectasis, Tachypnea, ... |
ORPHA:60025 |
Dent Disease 1 |
|
Thin bony cortex, Rickets, Enlargement of the wrists, Delayed epiphyseal ossification, Osteomalac... |
OMIM:300009 |
Cataract 40 |
|
Nuclear cataract, Sutural cataract |
OMIM:302200 |
Blindness-Scoliosis-Arachnodactyly Syndrome |
|
Microphakia, Cataract, Lens subluxation |
ORPHA:171844 |
Hartsfield Syndrome |
|
Hypoplasia of the frontal bone, Craniosynostosis, Microcephaly |
OMIM:615465 |
Fanconi Renotubular Syndrome 2 |
|
Osteopenia, Rickets |
OMIM:613388 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 8 |
|
Respiratory failure |
OMIM:615838 |
Renal Dysplasia-Limb Defects Syndrome |
|
Micrognathia, Pneumothorax, Neonatal death, Respiratory distress, Respiratory failure, Short neck |
OMIM:266910 |
Hypophosphatemic Bone Disease |
|
Osteomalacia, Rickets |
OMIM:146350 |
Loeys-Dietz Syndrome 3 |
|
Hip osteoarthritis, Pneumothorax, Knee osteoarthritis, Craniosynostosis, Intervertebral disc dege... |
OMIM:613795 |
Atypical Werner Syndrome |
|
Micrognathia, Chondrocalcinosis, Osteoporosis, Intervertebral disc degeneration, Sclerosis of han... |
ORPHA:79474 |
Disorder Of Bile Acid Synthesis |
|
Rickets |
ORPHA:79168 |
Axial Osteomalacia |
|
Osteomalacia, Increased bone mineral density |
OMIM:109130 |
Mercury Poisoning |
|
Interstitial pneumonitis, Tremor, Respiratory distress, Respiratory failure, Dyspnea |
ORPHA:330021 |
Snakebite Envenomation |
|
Respiratory failure, Epistaxis, Respiratory paralysis |
ORPHA:449285 |
Beta-Thalassemia Intermedia |
|
Leukocytosis, Erythroid hyperplasia, Proximal tubulopathy, Splenomegaly, Persistence of hemoglobi... |
ORPHA:231222 |
Wilson Disease |
|
Chondrocalcinosis, Osteoporosis, Joint hypermobility, Tremor, Osteomalacia, Osteoarthritis |
OMIM:277900 |
Bile Acid Conjugation Defect 1 |
|
Rickets |
OMIM:619232 |
Lowe Oculocerebrorenal Syndrome |
|
Wrist swelling, Rickets, Joint contracture of the hand, Platyspondyly, Pathologic fracture, Joint... |
OMIM:309000 |
Papillorenal Syndrome |
|
Horseshoe kidney, Renal hypoplasia, Renal cyst, Nephrolithiasis, Stage 5 chronic kidney disease, ... |
OMIM:120330 |
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly |
|
Respiratory failure, Respiratory distress |
OMIM:617895 |
Lethal Acantholytic Erosive Disorder |
|
Respiratory failure, Natal tooth, Camptodactyly of toe |
ORPHA:158687 |
Cataract 32, Multiple Types |
|
Anterior polar cataract |
OMIM:115650 |
Combined Oxidative Phosphorylation Defect Type 23 |
|
Respiratory failure, Paroxysmal dyspnea, Stridor |
ORPHA:444013 |
3-Methylglutaconic Aciduria Type 7 |
|
Respiratory failure, Pneumothorax, Opisthotonus, Primary microcephaly |
ORPHA:445038 |
Riddle Syndrome |
|
Pneumonia, Chronic sinusitis, Arthritis, Respiratory failure, Recurrent pneumonia, Restrictive ve... |
ORPHA:420741 |
Isolated Ectopia Lentis |
|
Cataract, Ectopia pupillae, Ectopia lentis |
ORPHA:1885 |
Brain-Lung-Thyroid Syndrome |
|
Neonatal respiratory distress, Pulmonary arterial hypertension, Intention tremor, Respiratory dis... |
ORPHA:209905 |
Diamond-Blackfan Anemia 6 |
|
Macrocytic anemia, Increased mean corpuscular volume, Persistence of hemoglobin F |
OMIM:612561 |
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome |
|
Respiratory failure, Head titubation, Vestibular areflexia |
ORPHA:3240 |
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16 |
|
Hypospadias, HbH hemoglobin, Microcytic anemia |
ORPHA:98791 |
Infantile Krabbe Disease |
|
Respiratory failure, Respiratory distress, Opisthotonus, Ankle clonus |
ORPHA:206436 |
Amyotrophic Lateral Sclerosis |
|
Respiratory failure, Dyspnea, Abnormal respiratory system physiology |
ORPHA:803 |
Coloboma, Ocular, Autosomal Recessive |
|
Cataract, Lens subluxation, Iris coloboma |
OMIM:216820 |
Hypercholanemia, Familial 1 |
|
Rickets |
OMIM:607748 |
Hereditary Hypophosphatemic Rickets With Hypercalciuria |
|
Reduced bone mineral density, Osteomalacia, Hypophosphatemic rickets, Pathologic fracture |
ORPHA:157215 |
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss |
|
Rickets |
OMIM:602722 |
Renal Tubular Acidosis Iii |
|
Osteomalacia, Rickets |
OMIM:267200 |
Blackfan-Diamond Anemia |
|
Hypospadias, Horseshoe kidney, Developmental cataract, Thrombocytosis, Neutropenia, Elevated red ... |
ORPHA:124 |
Oculocerebrorenal Syndrome Of Lowe |
|
Carious teeth, Death in infancy, Abnormal dental enamel morphology, Delayed eruption of teeth, Os... |
ORPHA:534 |
Occipital Horn Syndrome |
|
Rickets, Osteoporosis, Platyspondyly, Osteopenia, Synostosis of joints, Kyphosis, Hip dislocation... |
ORPHA:198 |
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome |
|
Hypospadias, Sclerocornea, Cataract, Microcornea, Ectopia pupillae |
OMIM:615877 |
Car T Cell Therapy-Associated Cytokine Release Syndrome |
|
Respiratory failure, Hypoxemia, Tachypnea, Pleural effusion |
ORPHA:542323 |
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia |
|
Osteoporosis, Rickets |
OMIM:560000 |
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome |
|
Respiratory failure, Pulmonary arterial hypertension, Respiratory insufficiency |
OMIM:613845 |
Abetalipoproteinemia |
|
Respiratory failure, Kyphoscoliosis, Osteopenia |
ORPHA:14 |
Leigh Syndrome With Cardiomyopathy |
|
Respiratory failure, Respiratory distress, Central hypoventilation, Apnea |
ORPHA:70474 |
Deafness-Lymphedema-Leukemia Syndrome |
|
Respiratory failure |
ORPHA:3226 |
Nephronophthisis 2 |
|
Respiratory failure, Respiratory insufficiency |
OMIM:602088 |
Listeriosis |
|
Stiff neck, Pneumonia, Back pain, Septic arthritis, Osteomyelitis, Respiratory distress, Tremor, ... |
ORPHA:533 |
Leiomyomatosis, Diffuse, With Alport Syndrome |
|
Abnormal renal physiology, Hematuria, Stage 5 chronic kidney disease, Anterior lenticonus, Lentic... |
OMIM:308940 |
Aniridia-Absent Patella Syndrome |
|
Aniridia, Cataract |
ORPHA:1069 |
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive |
|
Buphthalmos, Persistent pupillary membrane, Shallow anterior chamber, Iris coloboma, Corneal opac... |
OMIM:221900 |
Thoracic Dysplasia-Hydrocephalus Syndrome |
|
Respiratory failure, Respiratory insufficiency |
OMIM:273730 |
Atelosteogenesis Type Iii |
|
Knee dislocation, Micrognathia, Laryngotracheomalacia, Coronal cleft vertebrae, Respiratory insuf... |
ORPHA:56305 |
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia |
|
Rickets |
OMIM:611590 |
Fanconi Renotubular Syndrome 1 |
|
Osteomalacia, Rickets |
OMIM:134600 |
Combined Oxidative Phosphorylation Deficiency 3 |
|
Respiratory failure, Tremor, Respiratory insufficiency, Death in childhood |
OMIM:610505 |
Renal Tubular Acidosis, Distal, 1 |
|
Osteomalacia, Pathologic fracture |
OMIM:179800 |
Beta-Thalassemia Major |
|
Anisopoikilocytosis, Hypochromic microcytic anemia, Splenomegaly, Persistence of hemoglobin F, Hy... |
ORPHA:231214 |
Boutonneuse Fever |
|
Respiratory failure |
ORPHA:83313 |
Dominant Beta-Thalassemia |
|
Hypochromic microcytic anemia, Persistence of hemoglobin F, Splenomegaly, Hypersplenism, Hepatosp... |
ORPHA:231226 |
Poliomyelitis |
|
Respiratory failure, Stiff neck, Respiratory failure requiring assisted ventilation |
ORPHA:2912 |
Isolated Exencephaly |
|
Hypoplasia of the frontal bone |
ORPHA:563612 |
Nijmegen Breakage Syndrome |
|
Recurrent pneumonia, Retrognathia, Respiratory failure, Short neck, Microcephaly |
ORPHA:647 |
Pelizaeus-Merzbacher Disease, Connatal Form |
|
Respiratory failure, Titubation |
ORPHA:280210 |
Leigh Syndrome |
|
Multiple joint contractures, Respiratory failure, Abnormal pattern of respiration |
ORPHA:506 |
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome |
|
Hypoplasia of the maxilla, Hypoplasia of the frontal bone, Camptodactyly of finger |
ORPHA:306542 |
S-Adenosylhomocysteine Hydrolase Deficiency |
|
Respiratory failure, Microcephaly |
ORPHA:88618 |
Fanconi Renotubular Syndrome 3 |
|
Rickets |
OMIM:615605 |
Mitochondrial Trifunctional Protein Deficiency |
|
Respiratory failure, Respiratory insufficiency |
OMIM:609015 |
Dent Disease |
|
Thin bony cortex, Rickets, Enlargement of the wrists, Delayed epiphyseal ossification, Osteomalac... |
ORPHA:1652 |
Alpha-Thalassemia/Mental Retardation Syndrome, Chromosome 16-Related |
|
Hypospadias, Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia, Micropenis, HbH h... |
OMIM:141750 |
Hypophosphatemic Rickets |
|
Fibrous dysplasia of the bones, Rickets, Hyperostosis, Tooth abscess, Patchy variation in bone mi... |
ORPHA:437 |
Shwachman-Diamond Syndrome 1 |
|
Neutropenia, Nephrocalcinosis, Anemia, Persistence of hemoglobin F, Acute myeloid leukemia, Pancy... |
OMIM:260400 |
Ulbright-Hodes Syndrome |
|
Ovoid thoracolumbar vertebrae, Micrognathia, Pneumothorax, Respiratory distress, Respiratory fail... |
ORPHA:3404 |
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome |
|
Metopic synostosis, Hemivertebrae, Hyperextensible hand joints, Kyphoscoliosis, Sagittal craniosy... |
ORPHA:500150 |
Aniridia 1 |
|
Corneal erosion, Anterior subcapsular cataract, Ectopia lentis, Hypoplasia of the iris, Aniridia,... |
OMIM:106210 |
Microphthalmia With Linear Skin Defects Syndrome |
|
Micrognathia, Mandibular aplasia, Abnormal dental enamel morphology, Respiratory distress, Sacral... |
ORPHA:2556 |
Respiratory Underresponsiveness To Hypoxia And Hypercapnia |
|
Respiratory failure, Hypercapnia, Respiratory insufficiency |
OMIM:267480 |
Mitochondrial Trifunctional Protein Deficiency |
|
Respiratory failure, Respiratory insufficiency |
ORPHA:746 |
Combined Oxidative Phosphorylation Deficiency 37 |
|
Respiratory failure, Secondary microcephaly, Respiratory insufficiency |
OMIM:618329 |
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset |
|
Respiratory insufficiency, Respiratory insufficiency due to muscle weakness, Respiratory distress... |
ORPHA:308552 |
Severe Generalized Junctional Epidermolysis Bullosa |
|
Stridor, Pneumonia, Pneumothorax, Osteoporosis, Respiratory distress, Enamel hypoplasia, Respirat... |
ORPHA:79404 |
Cystinosis |
|
Rickets |
ORPHA:213 |
Bloom Syndrome |
|
Micrognathia, Chronic pulmonary obstruction, Pneumonia, Rhinitis, Retrognathia, Respiratory failure |
ORPHA:125 |
Thoracic Dysplasia-Hydrocephalus Syndrome |
|
Respiratory failure |
ORPHA:1861 |
Celiac Disease, Susceptibility To, 1 |
|
Enamel hypoplasia, Osteoporosis, Rickets |
OMIM:212750 |
Nocardiosis |
|
Productive cough, Pneumonia, Pneumothorax, Osteomyelitis, Respiratory distress, Nonproductive cou... |
ORPHA:31204 |
Thymoma |
|
Imbalanced hemoglobin synthesis, Leukemia, Pure red cell aplasia, Glomerulonephritis, Aplastic an... |
ORPHA:99867 |
Alpha-Thalassemia/Mental Retardation Syndrome, X-Linked |
|
Hypospadias, Reduced alpha/beta synthesis ratio, Hydronephrosis, Hypochromic microcytic anemia, M... |
OMIM:301040 |
Hemorrhagic Fever-Renal Syndrome |
|
Pneumonia, Epistaxis, Cough, Back pain, Respiratory distress, Respiratory failure, Dyspnea, Pleur... |
ORPHA:340 |
Geleophysic Dysplasia 3 |
|
Respiratory failure, Pneumonia, Dyspnea, Sleep apnea |
OMIM:617809 |
Mitochondrial Complex I Deficiency, Nuclear Type 1 |
|
Death in infancy, Respiratory insufficiency, Apnea, Respiratory failure, Microcephaly |
OMIM:252010 |
Fanconi-Bickel Syndrome |
|
Osteopenia, Rickets |
ORPHA:2088 |
Acquired Methemoglobinemia |
|
Methemoglobinemia |
ORPHA:464453 |
Congenital Bile Acid Synthesis Defect Type 2 |
|
Rickets |
ORPHA:79303 |
Hereditary Methemoglobinemia |
|
Methemoglobinemia |
ORPHA:621 |
Persistent Hyperplastic Primary Vitreous |
|
Buphthalmos, Persistent pupillary membrane, Shallow anterior chamber, Developmental cataract, Cor... |
ORPHA:91495 |
Oculoauricular Syndrome |
|
Iris cyst, Developmental cataract, Posterior embryotoxon, Microphakia, Sclerocornea, Iris colobom... |
OMIM:612109 |
Congenital Tricuspid Valve Dysplasia |
|
Tachypnea, Hypoxemia, Respiratory failure, Respiratory failure requiring assisted ventilation |
ORPHA:555874 |
Bile Acid Synthesis Defect, Congenital, 1 |
|
Rickets |
OMIM:607765 |
Niemann-Pick Disease, Type C2 |
|
Respiratory failure, Respiratory insufficiency |
OMIM:607625 |
Cataract 23, Multiple Types |
|
Lamellar cataract |
OMIM:610425 |
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome |
|
Anemia, Hydronephrosis, Hypoplasia of penis, Abnormal hemoglobin |
ORPHA:847 |
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young |
|
Rickets |
OMIM:616026 |
Hypophosphatemic Rickets And Hyperparathyroidism |
|
Hypophosphatemic rickets, Rickets |
OMIM:612089 |
Distal Renal Tubular Acidosis |
|
Rickets, Increased susceptibility to fractures, Respiratory insufficiency due to muscle weakness,... |
ORPHA:18 |
Hypocalciuric Hypercalcemia, Familial, Type Iii |
|
Osteomalacia, Chondrocalcinosis |
OMIM:600740 |
Autoimmune Polyendocrine Syndrome, Type Ii |
|
Asplenia, Iron deficiency anemia, Cataract, Band keratopathy, Keratoconjunctivitis |
OMIM:269200 |
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 |
Fanconi-Bickel Syndrome |
|
Osteomalacia |
OMIM:227810 |
Lead Poisoning |
|
Abnormal T cell morphology, Imbalanced hemoglobin synthesis, Renal tubular dysfunction, Tubuloint... |
ORPHA:330015 |
Frontofacionasal Dysplasia |
|
Hypoplasia of the frontal bone |
OMIM:229400 |
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type |
|
Rickets |
OMIM:219900 |
Bickerstaff Brainstem Encephalitis |
|
Pneumonia, Hypercapnia, Respiratory failure, Dyspnea, Respiratory failure requiring assisted vent... |
ORPHA:79138 |
Pancreatic Triacylglycerol Lipase Deficiency |
|
Osteomalacia, Osteoporosis, Rickets |
ORPHA:309031 |
Autosomal Recessive Polycystic Kidney Disease |
|
Micrognathia, Hypoventilation, Recurrent pneumonia, Spontaneous pneumothorax, Respiratory failure |
ORPHA:731 |
Niemann-Pick Disease Type C |
|
Respiratory insufficiency, Intention tremor, Tremor, Respiratory failure, Aspiration pneumonia |
ORPHA:646 |
Generalized Arterial Calcification Of Infancy |
|
Abnormal calcification of the carpal bones, Abnormal hip joint morphology, Stippled calcification... |
ORPHA:51608 |
Steinert Myotonic Dystrophy |
|
Respiratory insufficiency, Obstructive sleep apnea, Respiratory insufficiency due to muscle weakn... |
ORPHA:273 |
Cystinosis, Nephropathic |
|
Genu valgum, Hypophosphatemic rickets, Rickets |
OMIM:219800 |
Familial Hypocalciuric Hypercalcemia |
|
Osteomalacia, Chondrocalcinosis |
ORPHA:405 |
Infantile Nephropathic Cystinosis |
|
Rickets |
ORPHA:411629 |
Tuberous Sclerosis Complex |
|
Respiratory failure, Respiratory distress |
ORPHA:805 |
Primary Fanconi Renotubular Syndrome |
|
Increased susceptibility to fractures, Osteomalacia, Hypophosphatemic rickets |
ORPHA:3337 |
Immunodeficiency 82 With Systemic Inflammation |
|
Pneumonia, Bronchiectasis, Arthritis, Osteomyelitis, Osteomalacia, Joint swelling |
OMIM:619381 |