Major Depressive Disorder |
|
Depression |
OMIM:608516 |
Major Affective Disorder 1 |
|
Mania, Depression |
OMIM:125480 |
7q11.23 duplication syndrome |
|
Short attention span |
DECIPHER:43 |
Presenile Dementia, Kraepelin Type |
|
Dementia |
OMIM:176600 |
Monoamine Oxidase A Deficiency |
|
Cognitive impairment |
ORPHA:3057 |
Venular Insufficiency, Systemic |
|
Cyanosis |
OMIM:192700 |
Sulfhemoglobinemia, Congenital |
|
Cyanosis |
OMIM:185460 |
Attention Deficit-Hyperactivity Disorder, Susceptibility To, 7 |
|
Attention deficit hyperactivity disorder, Depression |
OMIM:613003 |
Granulomas, Congenital Cerebral |
|
Neonatal death |
OMIM:306300 |
Genitourinary Tract Anomalies |
|
Neonatal death |
OMIM:305690 |
Diffuse Palmoplantar Keratoderma-Acrocyanosis Syndrome |
|
Acrocyanosis |
ORPHA:86918 |
Obesity-Hypoventilation Syndrome |
|
Hypoventilation, Cyanosis |
OMIM:257500 |
Buschke-Ollendorff Syndrome |
|
Connective tissue nevi, Osteopoikilosis, Flexion contracture, Joint stiffness |
OMIM:166700 |
Metaphyseal Modeling Abnormality, Skin Lesions, And Spastic Paraplegia |
|
Increased bone mineral density |
OMIM:250500 |
12q14 microdeletion syndrome |
|
Osteopoikilosis |
DECIPHER:76 |
Melorheostosis With Osteopoikilosis |
|
Multiple lipomas, Osteopoikilosis, Abnormal cortical bone morphology |
ORPHA:1879 |
Osteomesopyknosis |
|
Increased bone mineral density |
OMIM:166450 |
Pyknoachondrogenesis |
|
Increased bone mineral density |
OMIM:265880 |
Methemoglobinemia, Beta Type |
|
Cyanosis |
OMIM:617971 |
Methemoglobinemia, Alpha Type |
|
Cyanosis |
OMIM:617973 |
Dentin Dysplasia |
|
Increased bone mineral density, Abnormal dental enamel morphology |
ORPHA:1653 |
Osteopoikilosis And Dacryocystitis |
|
Osteopoikilosis |
OMIM:166705 |
Osteosclerosis-Ichthyosis-Premature Ovarian Failure Syndrome |
|
Increased bone mineral density |
ORPHA:75325 |
Ossification Of The Posterior Longitudinal Ligament Of Spine |
|
Ectopic ossification, Increased bone mineral density |
OMIM:602475 |
Osteosclerotic Metaphyseal Dysplasia |
|
Increased bone mineral density, Failure to thrive, Clavicular sclerosis |
OMIM:615198 |
Lethal Congenital Contracture Syndrome 3 |
|
Neonatal death, Respiratory insufficiency |
OMIM:611369 |
Melorheostosis, Isolated |
|
Hyperostosis, Increased bone mineral density |
OMIM:155950 |
Osteomesopyknosis |
|
Increased bone mineral density, Abnormal cortical bone morphology |
ORPHA:2777 |
Central Hypoventilation Syndrome, Congenital, 3 |
|
Respiratory failure, Apnea, Central hypoventilation |
OMIM:619483 |
Mitochondrial Complex I Deficiency, Nuclear Type 9 |
|
Neonatal death, Hypoventilation, Breathing dysregulation |
OMIM:618232 |
Ribbing Disease |
|
Diaphyseal sclerosis |
OMIM:601477 |
Hypophosphatemic Rickets, Autosomal Recessive, 1 |
|
Hypophosphatemic rickets, Increased bone mineral density, Rickets, Craniosynostosis |
OMIM:241520 |
Myopathy, Myofibrillar, Fatal Infantile Hypertonic, Alpha-B Crystallin-Related |
|
Death in infancy, Respiratory failure, Apnea, Respiratory insufficiency |
OMIM:613869 |
Melorheostosis |
|
Increased bone mineral density, Joint stiffness, Atypical scarring of skin, Hyperostosis, Arthrit... |
ORPHA:2485 |
Regional Odontodysplasia |
|
Dental enamel pits, Abnormality of dental color, Gingivitis, Eruption failure, Abnormal dental pu... |
ORPHA:83450 |
Dacryocystitis-Osteopoikilosis Syndrome |
|
Increased bone mineral density, Osteopoikilosis |
ORPHA:1562 |
Crigler-Najjar Syndrome Type 2 |
|
Neonatal hyperbilirubinemia, Unconjugated hyperbilirubinemia |
ORPHA:79235 |
Dentin Dysplasia With Sclerotic Bones |
|
Dentinogenesis imperfecta limited to primary teeth, Cortical sclerosis |
OMIM:125440 |
Van Buchem Disease |
|
Increased bone mineral density, Cranial hyperostosis, Thickened cortex of long bones |
OMIM:239100 |
Hyperostosis Corticalis Generalisata |
|
Generalized osteosclerosis, Abnormal cortical bone morphology, Cranial hyperostosis |
ORPHA:3416 |
Glycine Encephalopathy 2 |
|
Respiratory failure |
OMIM:620398 |
Laryngotracheal Angioma |
|
Respiratory distress, Cyanosis, Intercostal retractions, Apnea, Wheezing, Stridor, Cough |
ORPHA:137935 |
Seizures, Benign Familial Infantile, 3 |
|
Cyanosis, Apnea |
OMIM:607745 |
Bullous Dystrophy, Hereditary Macular Type |
|
Acrocyanosis, Death in childhood |
OMIM:302000 |
Krabbe Disease, Atypical, Due To Saposin A Deficiency |
|
Central apnea, Death in infancy, Respiratory failure, Respiratory insufficiency |
OMIM:611722 |
Body Mass Index Quantitative Trait Locus 20 |
|
Increased bone mineral density, Obesity |
OMIM:618406 |
Dentin Dysplasia, Type I |
|
Pulp obliteration, Periapical bone loss, Oligodontia, Taurodontia, Short dental root, Microdontia... |
OMIM:125400 |
Spinal Muscular Atrophy, Type I |
|
Respiratory failure, Respiratory insufficiency, Death in childhood |
OMIM:253300 |
Interstitial Pneumonitis, Desquamative, Familial |
|
Respiratory distress, Cyanosis, Tachypnea, Respiratory failure, Cough |
OMIM:263000 |
Cleft Larynx, Posterior |
|
Aspiration, Cyanosis |
OMIM:215800 |
Reducing Body Myopathy, X-Linked 1A, Severe, With Infantile Or Early Childhood Onset |
|
Respiratory insufficiency due to muscle weakness, Respiratory failure, Death in adolescence |
OMIM:300717 |
Congenital Myopathy 21 With Early Respiratory Failure |
|
Dyspnea, Respiratory failure, Nocturnal hypoventilation |
OMIM:620326 |
Amelogenesis Imperfecta, Type Ij |
|
Carious teeth, Widely spaced teeth, Increased overbite, Enamel hypoplasia, Amelogenesis imperfecta |
OMIM:617297 |
Isolated Osteopoikilosis |
|
Abnormally ossified vertebrae, Increased bone mineral density, Sclerosis of foot bone, Sclerotic ... |
ORPHA:166119 |
Amelogenesis Imperfecta |
|
Abnormality of dental color, Fragile teeth, Hypomature dental enamel, Enamel hypomineralization, ... |
ORPHA:88661 |
Athabaskan Brainstem Dysgenesis Syndrome |
|
Central hypoventilation |
OMIM:601536 |
Developmental And Epileptic Encephalopathy 71 |
|
Respiratory failure, Cheyne-Stokes respiration, Respiratory insufficiency |
OMIM:618328 |
Seizures, Benign Familial Infantile, 1 |
|
Cyanosis, Apnea |
OMIM:601764 |
Chronic Pneumonitis Of Infancy |
|
Respiratory distress, Cyanosis, Intercostal retractions, Reduced forced vital capacity, Tachypnea... |
ORPHA:91359 |
Endosteal Hyperostosis, Worth Type |
|
Craniofacial hyperostosis, Clavicular sclerosis, Abnormal cortical bone morphology, Generalized o... |
ORPHA:2790 |
Cryofibrinogenemia, Familial Primary |
|
Acrocyanosis |
OMIM:123540 |
Laryngotracheoesophageal Cleft |
|
Neonatal respiratory distress, Cyanosis, Dyspnea, Stridor, Cough, Aspiration |
ORPHA:2004 |
Phosphoserine Aminotransferase Deficiency |
|
Death in infancy, Cyanotic episode, Apnea |
OMIM:610992 |
Encephalopathy, Neonatal Severe, Due To Mecp2 Mutations |
|
Apnea, Central hypoventilation, Respiratory insufficiency |
OMIM:300673 |
Hypercholanemia, Familial, 2 |
|
Increased serum bile acid concentration, Unconjugated hyperbilirubinemia |
OMIM:619256 |
Amelogenesis Imperfecta, Hypomaturation Type, Iia3 |
|
Enamel hypomineralization, Hypomature dental enamel, Amelogenesis imperfecta |
OMIM:613211 |
Edinburgh Malformation Syndrome |
|
U-Shaped upper lip vermilion, Neonatal hyperbilirubinemia |
OMIM:129850 |
Osteosclerosis-Developmental Delay-Craniosynostosis Syndrome |
|
Increased bone mineral density, Craniosynostosis |
ORPHA:178377 |
Jaundice, Familial Obstructive, Of Infancy |
|
Neonatal hyperbilirubinemia |
OMIM:308600 |
Hyperbilirubinemia, Conjugated, Type Iii |
|
Conjugated hyperbilirubinemia |
OMIM:237550 |
Hyperbilirubinemia, Transient Familial Neonatal |
|
Neonatal unconjugated hyperbilirubinemia |
OMIM:237900 |
Crigler-Najjar Syndrome, Type Ii |
|
Unconjugated hyperbilirubinemia |
OMIM:606785 |
Flynn-Aird Syndrome |
|
Increased bone mineral density, Osteoporosis, Increased bone density with cystic changes, Joint s... |
OMIM:136300 |
Trichodentoosseous Syndrome |
|
Increased bone mineral density |
OMIM:190320 |
Perry Syndrome |
|
Hypoventilation, Respiratory arrest, Central hypoventilation, Respiratory insufficiency |
OMIM:168605 |
Immunodeficiency 95 |
|
Respiratory distress, Respiratory failure, Recurrent viral pneumonia |
OMIM:619773 |
Osteosclerosis With Ichthyosis And Fractures |
|
Cortical thickening of long bone diaphyses, Increased bone mineral density, Recurrent fractures |
OMIM:166740 |
Pontocerebellar Hypoplasia, Type 1C |
|
Respiratory failure, Respiratory insufficiency, Death in childhood |
OMIM:616081 |
Perching Syndrome |
|
Respiratory distress, Cyanosis |
OMIM:617055 |
Osteochondrosis Of The Metatarsal Bone |
|
Arthritis, Thickened cortex of bones, Sclerosis of foot bone, Joint stiffness |
ORPHA:564003 |
Glutathione Peroxidase Deficiency |
|
Neonatal hyperbilirubinemia |
OMIM:614164 |
Partial Androgen Insensitivity Syndrome |
|
Bifid scrotum, Fused labia majora, Clitoral hypertrophy, Hypospadias, Elevated circulating lutein... |
ORPHA:90797 |
Sclerosteosis |
|
Craniofacial hyperostosis, Increased bone mineral density, Abnormal cortical bone morphology |
ORPHA:3152 |
Butyrylcholinesterase Deficiency |
|
Respiratory failure requiring assisted ventilation, Respiratory failure |
ORPHA:132 |
Ovarian Dysgenesis 3 |
|
Elevated circulating follicle stimulating hormone level, Elevated circulating luteinizing hormone... |
OMIM:614324 |
Cholestasis, Progressive Familial Intrahepatic, 11 |
|
Abnormal circulating bilirubin concentration, Increased serum bile acid concentration |
OMIM:619874 |
Hemolytic Anemia Due To Glutathione Reductase Deficiency |
|
Hyperbilirubinemia |
OMIM:618660 |
Surfactant Metabolism Dysfunction, Pulmonary, 1 |
|
Death in infancy, Neonatal respiratory distress, Cyanosis, Apnea, Dyspnea, Tachypnea, Respiratory... |
OMIM:265120 |
Renal Hypodysplasia/Aplasia 4 |
|
Respiratory failure |
OMIM:619887 |
Postpoliomyelitis Syndrome |
|
Hypoventilation, Respiratory insufficiency |
ORPHA:2942 |
Neuralgic Amyotrophy |
|
Acrocyanosis, Respiratory insufficiency |
ORPHA:2901 |
Hyperbilirubinemia, Rotor Type |
|
Conjugated hyperbilirubinemia |
OMIM:237450 |
Osteopetrosis, Autosomal Dominant 1 |
|
Thickened cortex of long bones, Generalized osteosclerosis, Calvarial osteosclerosis, Osteopetrosis |
OMIM:607634 |
Mueller-Weiss Syndrome |
|
Limitation of movement at ankles, Sclerosis of foot bone, Joint stiffness, Knee osteoarthritis, A... |
ORPHA:566943 |
Mitochondrial Complex I Deficiency, Nuclear Type 10 |
|
Respiratory failure, Apnea, Central hypoventilation |
OMIM:618233 |
Dubin-Johnson Syndrome |
|
Conjugated hyperbilirubinemia |
OMIM:237500 |
Breath-Holding Spells |
|
Cyanosis |
OMIM:607578 |
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A |
|
Reduced vital capacity, Abnormal respiratory system physiology, Respiratory insufficiency, Reduce... |
ORPHA:266 |
Crigler-Najjar Syndrome, Type I |
|
Unconjugated hyperbilirubinemia |
OMIM:218800 |
Myopathy, Myofibrillar, 9, With Early Respiratory Failure |
|
Reduced vital capacity, Respiratory failure, Nocturnal hypoventilation |
OMIM:603689 |
Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome |
|
Decreased response to growth hormone stimulation test, Abnormality of the dentition, Cryptorchidi... |
ORPHA:3363 |
Amelogenesis Imperfecta, Hypomaturation Type, Iia1 |
|
Carious teeth, Enamel hypomineralization, Anterior open-bite malocclusion, Yellow-brown discolora... |
OMIM:204700 |
Pulmonary Hypoplasia, Primary |
|
Neonatal death |
OMIM:265430 |
Cholestasis, Progressive Familial Intrahepatic, 12 |
|
Conjugated hyperbilirubinemia, Increased serum bile acid concentration, Hyperbilirubinemia |
OMIM:620010 |
Cryptogenic Organizing Pneumonia |
|
Respiratory distress, Bronchial breath sound, Cyanosis, Crackles, Nonproductive cough, Dyspnea, W... |
ORPHA:1302 |
Cyanosis, Transient Neonatal |
|
Jaundice, Cyanosis |
OMIM:613977 |
Amelogenesis Imperfecta, Type Iiib |
|
Enamel hypomineralization, Amelogenesis imperfecta |
OMIM:617607 |
Axial Osteomalacia |
|
Increased bone mineral density, Osteomalacia |
OMIM:109130 |
Ullrich Congenital Muscular Dystrophy 2 |
|
Nocturnal hypoventilation |
OMIM:616470 |
Amelogenesis Imperfecta, Type Ia |
|
Dental enamel pits, Taurodontia, Generalized microdontia, Enamel hypoplasia, Amelogenesis imperfecta |
OMIM:104530 |
Hereditary Motor And Sensory Neuropathy, Okinawa Type |
|
Respiratory failure requiring assisted ventilation, Dyspnea, Respiratory failure, Aspiration pneu... |
ORPHA:90117 |
Amelogenesis Imperfecta, Hypomaturation Type, Iia6 |
|
Anterior open-bite malocclusion, Enamel hypomineralization, Amelogenesis imperfecta |
OMIM:617217 |
Rotor Syndrome |
|
Conjugated hyperbilirubinemia, Hyperbilirubinemia |
ORPHA:3111 |
Perry Syndrome |
|
Central hypoventilation |
ORPHA:178509 |
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type |
|
Increased bone mineral density, Abnormal cortical bone morphology |
ORPHA:2204 |
Crigler-Najjar Syndrome Type 1 |
|
Neonatal hyperbilirubinemia, Unconjugated hyperbilirubinemia |
ORPHA:79234 |
Oligodontia |
|
Orofacial cleft, Agenesis of mandibular premolar, Oligodontia, Widely spaced teeth, Microdontia, ... |
ORPHA:99798 |
Nemaline Myopathy 8 |
|
Death in infancy, Respiratory failure |
OMIM:615348 |
Osteopetrosis, Autosomal Recessive 6 |
|
Osteopetrosis |
OMIM:611497 |
Dentin Dysplasia, Type Ii |
|
Dentinogenesis imperfecta limited to primary teeth, Pulp calcification, Thistle tube shaped pulp |
OMIM:125420 |
Muscular Dystrophy, Duchenne Type |
|
Respiratory insufficiency due to muscle weakness, Hypoventilation, Respiratory failure, Restricti... |
OMIM:310200 |
Osteopetrosis, Autosomal Dominant 2 |
|
Recurrent fractures, Mandibular osteomyelitis, Fractures of the long bones, Generalized osteoscle... |
OMIM:166600 |
Central Hypoventilation Syndrome, Congenital, 1 |
|
Hypoventilation, Apnea, Central hypoventilation, Hypercapnia, Hypoxemia, Nocturnal hypoventilation |
OMIM:209880 |
Dentinogenesis Imperfecta, Shields Type Iii |
|
Dental enamel pits, Odontodysplasia, Periapical bone loss, Anterior open-bite malocclusion, Denti... |
OMIM:125500 |
Hernia, Anterior Diaphragmatic |
|
Neonatal death |
OMIM:306950 |
High Altitude Pulmonary Edema |
|
Orthopnea, Cyanosis, Crackles, Dyspnea, Tachypnea, Hypoxemia, Cough |
ORPHA:330012 |
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome |
|
Respiratory distress, Cyanosis |
ORPHA:91130 |
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome |
|
Thin upper lip vermilion, Streak ovary, Hypergonadotropic hypogonadism, Non-obstructive azoosperm... |
ORPHA:2232 |
Amelogenesis Imperfecta, Type Iiia |
|
Anterior open-bite malocclusion, Dental malocclusion, Amelogenesis imperfecta |
OMIM:130900 |
Endosteal Hyperostosis, Autosomal Dominant |
|
Hyperostosis, Metacarpal diaphyseal endosteal sclerosis, Clavicular sclerosis, Thickened cortex o... |
OMIM:144750 |
Combined Oxidative Phosphorylation Deficiency 57 |
|
Neonatal death, Death in infancy, Apnea, Central hypoventilation |
OMIM:620167 |
Asbestos Intoxication |
|
Reduced vital capacity, Cyanosis, Reduced forced vital capacity, Nonproductive cough, Dyspnea, Wh... |
ORPHA:2302 |
Pulmonary Alveolar Proteinosis, Acquired |
|
Cyanosis, Pneumonia, Dyspnea, Inspiratory crackles, Hypoxemia, Restrictive ventilatory defect, Co... |
OMIM:610910 |
Brown-Vialetto-Van Laere Syndrome 1 |
|
Respiratory distress, Respiratory failure requiring assisted ventilation, Dyspnea, Respiratory in... |
OMIM:211530 |
Epidermolysis Bullosa With Diaphragmatic Hernia |
|
Neonatal death |
OMIM:226735 |
Dental Ankylosis |
|
Mandibular prognathia, Tooth agenesis, Abnormal dental enamel morphology |
ORPHA:1077 |
Hypophosphatasia, Adult |
|
Recurrent fractures, Osteomalacia, Rickets, Increased susceptibility to fractures, Pathologic fra... |
OMIM:146300 |
Myasthenic Syndrome, Congenital, 20, Presynaptic |
|
Stridor, Hypoventilation, Apnea |
OMIM:617143 |
Amelogenesis Imperfecta, Type Ic |
|
Enamel hypomineralization, Anterior open-bite malocclusion, Taurodontia, Yellow-brown discolorati... |
OMIM:204650 |
Amelogenesis Imperfecta, Type Ih |
|
Dental enamel pits, Anterior open-bite malocclusion, Yellow-brown discoloration of the teeth, Ena... |
OMIM:616221 |
Pneumocystosis |
|
Respiratory failure requiring assisted ventilation, Nonproductive cough, Dyspnea, Respiratory ins... |
ORPHA:723 |
Surfactant Metabolism Dysfunction, Pulmonary, 3 |
|
Respiratory distress, Death in infancy, Neonatal respiratory distress, Cyanosis, Apnea, Nonspecif... |
OMIM:610921 |
Autoinflammation With Pulmonary And Cutaneous Vasculitis |
|
Restrictive ventilatory defect, Respiratory failure, Interstitial pneumonitis, Vasculitis in the ... |
OMIM:620296 |
Cholestasis, Progressive Familial Intrahepatic, 10 |
|
Conjugated hyperbilirubinemia, Hypoalbuminemia, Increased serum bile acid concentration, Hypercho... |
OMIM:619868 |
Red Cell Phospholipid Defect With Hemolysis |
|
Hyperbilirubinemia |
OMIM:179700 |
Congenital Myopathy 14 |
|
Respiratory insufficiency due to muscle weakness, Death in infancy, Respiratory failure, Apnea |
OMIM:618414 |
Craniodiaphyseal Dysplasia, Autosomal Dominant |
|
Craniofacial hyperostosis, Craniofacial osteosclerosis, Diaphyseal sclerosis, Cortical sclerosis |
OMIM:122860 |
Limb-Mammary Syndrome |
|
Absent nipple, Cleft hard palate, Cleft lip, Cleft palate, Bilateral breast hypoplasia, Breast ap... |
ORPHA:69085 |
Laryngeal Abductor Paralysis |
|
Stridor, Cyanosis |
OMIM:150260 |
Hepatic Veno-Occlusive Disease |
|
Jaundice, Respiratory failure |
ORPHA:890 |
Lethal Osteosclerotic Bone Dysplasia |
|
Respiratory distress, Dyspnea, Respiratory failure |
ORPHA:1832 |
Hypodontia-Dysplasia Of Nails Syndrome |
|
Delayed eruption of teeth, Abnormal dental morphology, Conical tooth, Abnormality of the dentitio... |
ORPHA:2228 |
Hypophosphatemic Bone Disease |
|
Rickets, Osteomalacia |
OMIM:146350 |
Arthrogryposis Multiplex Congenita 6 |
|
Neonatal death, Death in infancy, Respiratory failure, Death in childhood |
OMIM:619334 |
Osteopetrosis, Autosomal Recessive 9 |
|
Pathologic fracture, Increased bone mineral density, Osteopetrosis, Cortical sclerosis |
OMIM:620366 |
Infant Acute Respiratory Distress Syndrome |
|
Cyanosis, Pneumonia, Nasal flaring, Tachypnea, Hypoxemia, Respiratory failure |
ORPHA:70587 |
Otodental Dysplasia |
|
Delayed eruption of teeth, Agenesis of premolar, Tooth ankylosis, Pulp calcification, Taurodontia... |
OMIM:166750 |
Malaria |
|
Hyperbilirubinemia, Elevated circulating C-reactive protein concentration |
ORPHA:673 |
Proximal Spinal Muscular Atrophy |
|
Hypoventilation, Neonatal respiratory distress, Respiratory insufficiency due to muscle weakness,... |
ORPHA:70 |
Amelogenesis Imperfecta, Hypomaturation Type, Iia2 |
|
Hypomature enamel, Anterior open-bite malocclusion, Yellow-brown discoloration of the teeth, Amel... |
OMIM:612529 |
Amelogenesis Imperfecta, Type Iiic |
|
Anterior open-bite malocclusion, Hypocalcification of dental enamel, Yellow-brown discoloration o... |
OMIM:618386 |
Dentinogenesis Imperfecta |
|
Generalized hypoplasia of dental enamel, Odontodysplasia, Selective tooth agenesis, Pulp oblitera... |
ORPHA:49042 |
Pontocerebellar Hypoplasia, Type 4 |
|
Death in infancy, Respiratory failure |
OMIM:225753 |
Surfactant Metabolism Dysfunction, Pulmonary, 2 |
|
Respiratory distress, Cyanosis, Spontaneous pneumothorax, Nonspecific interstitial pneumonia, Red... |
OMIM:610913 |
Congenital Pulmonary Lymphangiectasia |
|
Respiratory distress, Cyanosis, Chronic pulmonary obstruction, Cough, Pulmonary arterial hyperten... |
ORPHA:2414 |
Amelogenesis Imperfecta, Hypomaturation Type, Iia4 |
|
Enamel hypoplasia, Enamel hypomineralization, Amelogenesis imperfecta |
OMIM:614832 |
Florid Cemento-Osseous Dysplasia |
|
Jaw swelling, Mandibular osteomyelitis, Supernumerary tooth, Dental malocclusion, Oral ulcer, Abn... |
ORPHA:83451 |
Amelogenesis Imperfecta, Hypomaturation Type, Iia5 |
|
Carious teeth, Yellow-brown discoloration of the teeth, Amelogenesis imperfecta |
OMIM:615887 |
Intermediate Osteopetrosis |
|
Osteomyelitis, Recurrent fractures, Cortical sclerosis, Generalized osteosclerosis, Increased sus... |
ORPHA:210110 |
Haddad Syndrome |
|
Death in infancy, Central hypoventilation, Breathing dysregulation |
ORPHA:99803 |
Ceroid Lipofuscinosis, Neuronal, 10 |
|
Neonatal death, Respiratory failure, Apnea, Respiratory insufficiency |
OMIM:610127 |
Ganglioneuroma |
|
Central hypoventilation |
ORPHA:251992 |
Congenital Myopathy 10A, Severe Variant |
|
Respiratory distress, Restrictive ventilatory defect, Respiratory failure, Respiratory insufficiency |
OMIM:614399 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 23 |
|
Hypoventilation, Death in infancy |
OMIM:620275 |
Ring Chromosome Y Syndrome |
|
Bifid scrotum, Ambiguous genitalia, Streak ovary, Hypospadias, Unilateral cryptorchidism, Cryptor... |
ORPHA:261529 |
Classic Multiminicore Myopathy |
|
Intermittent episodes of respiratory insufficiency due to muscle weakness, Restrictive ventilator... |
ORPHA:324604 |
Mitochondrial Phosphate Carrier Deficiency |
|
Cyanosis, Respiratory insufficiency |
OMIM:610773 |
Combined Oxidative Phosphorylation Deficiency 51 |
|
Neonatal respiratory distress, Respiratory failure, Aspiration pneumonia |
OMIM:619057 |
Gilbert Syndrome |
|
Unconjugated hyperbilirubinemia |
OMIM:143500 |
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion |
|
Respiratory distress, Hypoventilation, Apnea, Recurrent pneumonia, Aspiration pneumonia |
ORPHA:314655 |
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency |
|
Death in infancy, Respiratory failure, Apnea |
OMIM:616277 |
Amelogenesis Imperfecta, Type If |
|
Dental enamel pits, Abnormality of dental color, Enamel hypoplasia, Amelogenesis imperfecta |
OMIM:616270 |
Ghosal Hematodiaphyseal Dysplasia |
|
Myelofibrosis, Increased bone mineral density, Hyperostosis cranialis interna |
OMIM:231095 |
Spondyloepiphyseal Dysplasia With Atlantoaxial Instability |
|
Respiratory failure |
OMIM:600561 |
Oculopharyngeal Myopathy With Leukoencephalopathy 1 |
|
Respiratory failure |
OMIM:618637 |
Paget Disease Of Bone 3 |
|
Fractures of the long bones, Osteolysis, Patchy osteosclerosis |
OMIM:167250 |
Synaptic Congenital Myasthenic Syndromes |
|
Respiratory distress, Hypoventilation, Neonatal respiratory distress, Respiratory insufficiency, ... |
ORPHA:98915 |
Congenital Myopathy 3 With Rigid Spine |
|
Restrictive ventilatory defect, Reduced vital capacity, Nocturnal hypoventilation |
OMIM:602771 |
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5 |
|
Reduced forced vital capacity, Restrictive ventilatory defect, Nocturnal hypoventilation |
OMIM:607155 |
Amelogenesis Imperfecta, Type Ie |
|
Anterior open-bite malocclusion, Enamel hypoplasia, Abnormal dentin morphology, Amelogenesis impe... |
OMIM:301200 |
Amelogenesis Imperfecta, Type Iv |
|
Enamel hypoplasia, Taurodontia, Yellow-brown discoloration of the teeth, Amelogenesis imperfecta |
OMIM:104510 |
Hypercholanemia, Familial 1 |
|
Failure to thrive, Rickets |
OMIM:607748 |
Muscular Dystrophy, Congenital, 1B |
|
Respiratory failure |
OMIM:604801 |
Congenital Arthrogryposis With Anterior Horn Cell Disease |
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Respiratory insufficiency due to muscle weakness, Respiratory failure, Neonatal death |
OMIM:611890 |
Ullrich Congenital Muscular Dystrophy 1 |
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Nocturnal hypoventilation, Respiratory insufficiency due to muscle weakness, Respiratory insuffic... |
OMIM:254090 |
Biliary Atresia, Extrahepatic |
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Atretic gallbladder, Bile duct proliferation, Unconjugated hyperbilirubinemia, Hyperbilirubinemia... |
OMIM:210500 |
Citrullinemia, Type Ii, Neonatal-Onset |
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Hypertyrosinemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Conjugated hyper... |
OMIM:605814 |
Ciliary Dyskinesia, Primary, 5 |
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Neonatal respiratory distress, Recurrent pneumonia, Bronchiectasis, Respiratory failure, Respirat... |
OMIM:608647 |
46,Xx Testicular Difference Of Sex Development |
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Ambiguous genitalia, Male hypogonadism, Decreased testicular size, Polycystic ovaries |
ORPHA:393 |
Hyperbilirubinemia, Shunt, Primary |
|
Hyperbilirubinemia |
OMIM:237800 |
Combined Oxidative Phosphorylation Deficiency 28 |
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Respiratory failure |
OMIM:616794 |
Leopard Syndrome 1 |
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Mandibular prognathia, Hypospadias, Cryptorchidism, Cleft palate, Hypoplasia of the ovary, Aplasi... |
OMIM:151100 |
Mitochondrial Dna Depletion Syndrome, Myopathic Form |
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Respiratory distress, Respiratory insufficiency due to muscle weakness, Recurrent pneumonia, Resp... |
ORPHA:254875 |
Cardiomyopathy, Dilated, 2H |
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Neonatal death, Tachypnea, Cardiorespiratory arrest |
OMIM:620203 |
Gnathodiaphyseal Dysplasia |
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Osteopenia, Osteomyelitis, Diaphyseal cortical sclerosis, Increased susceptibility to fractures |
OMIM:166260 |
Hypophosphatemic Rickets, Autosomal Dominant |
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Hypophosphatemic rickets, Rickets, Osteomalacia |
OMIM:193100 |
Epidermolysis Bullosa, Junctional 4, Intermediate |
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Carious teeth, Scarring alopecia of scalp, Dental enamel pits |
OMIM:619787 |
Classic Glucose Transporter Type 1 Deficiency Syndrome |
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Central apnea, Cyanosis |
ORPHA:71277 |
Postsynaptic Congenital Myasthenic Syndromes |
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Orthopnea, Reduced vital capacity, Cyanosis, Restrictive ventilatory defect, Respiratory failure,... |
ORPHA:98913 |
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor |
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Delayed epiphyseal ossification, Rickets, Sparse bone trabeculae, Generalized bone demineralizati... |
OMIM:600785 |
Primary Pulmonary Hypoplasia |
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Neonatal respiratory distress, Cyanosis, Apnea, Asthma, Tachypnea, Pneumothorax, Hypoxemia, Restr... |
ORPHA:2257 |
Osteopetrosis, Autosomal Recessive 4 |
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Osteopetrosis, Increased bone mineral density, Recurrent fractures |
OMIM:611490 |
Lethal Recessive Chondrodysplasia |
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Generalized osteosclerosis |
ORPHA:1423 |
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase |
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Cyanosis, Exertional dyspnea |
OMIM:250800 |
Choanal Atresia |
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Respiratory distress, Cyanosis, Upper airway obstruction, Tracheomalacia, Chronic sinusitis, Abno... |
ORPHA:137914 |
Vacterl Association With Hydrocephalus |
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Respiratory failure, Stillbirth, Respiratory insufficiency |
OMIM:276950 |
Benign Familial Infantile Epilepsy |
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Cyanosis, Apnea |
ORPHA:306 |
Staphylococcal Necrotizing Pneumonia |
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Respiratory distress, Pneumonia, Nonproductive cough, Dyspnea, Tachypnea, Pneumothorax, Hypoxemia... |
ORPHA:36238 |
Polycystic Liver Disease 1 With Or Without Kidney Cysts |
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Increased total bilirubin |
OMIM:174050 |
Autosomal Dominant Spastic Paraplegia Type 29 |
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Hyperbilirubinemia, Hernia, Hiatus hernia |
ORPHA:101009 |
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy |
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Hypoventilation, Respiratory insufficiency, Pulmonary arterial hypertension, Respiratory failure,... |
ORPHA:258 |
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria) |
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Death in infancy, Neonatal respiratory distress, Respiratory insufficiency, Respiratory failure, ... |
OMIM:245400 |
Acute Interstitial Pneumonia |
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Cyanosis, Crackles, Nonproductive cough, Dyspnea, Tachypnea, Bronchiectasis, Hypoxemia, Respirato... |
ORPHA:79126 |
Hypergonadotropic Hypogonadism And Partial Alopecia |
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Streak ovary, Hypergonadotropic hypogonadism |
OMIM:241090 |
Acute Lung Injury |
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Respiratory distress, Pneumonia, Dyspnea, Tachypnea, Hypoxemia, Respiratory failure |
ORPHA:178320 |
Lipodystrophy, Partial, Acquired, Susceptibility To |
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Polycystic ovaries, Progressive loss of facial adipose tissue, Loss of truncal subcutaneous adipo... |
OMIM:608709 |
Peripheral Motor Neuropathy-Dysautonomia Syndrome |
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Acrocyanosis |
ORPHA:2400 |
Rabin-Pappas Syndrome |
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Tracheomalacia, Hypoventilation, Retinal telangiectasia |
OMIM:620155 |
Amyotrophic Lateral Sclerosis 12 With Or Without Frontotemporal Dementia |
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Respiratory failure |
OMIM:613435 |
Spondylometaphyseal Dysplasia, X-Linked |
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Respiratory failure, Respiratory insufficiency |
OMIM:313420 |
Amelogenesis Imperfecta, Type Ik |
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Enamel hypoplasia, Amelogenesis imperfecta |
OMIM:620104 |
Typical Nemaline Myopathy |
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Nocturnal hypoventilation, Respiratory insufficiency |
ORPHA:171436 |
Hyperekplexia 4 |
|
Respiratory failure |
OMIM:618011 |
Stevenson-Carey Syndrome |
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Central hypoventilation |
OMIM:611961 |
Schnitzler Syndrome |
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Arthritis, Increased bone mineral density |
ORPHA:37748 |
Hypoadrenocorticism, Familial |
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Cyanosis, Apnea |
OMIM:240200 |
Neutropenia, Lethal Congenital, With Eosinophilia |
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Neonatal death |
OMIM:257100 |
Bethlem Myopathy |
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Hypoventilation, Reduced maximal expiratory pressure |
ORPHA:610 |
Mitochondrial Complex I Deficiency, Nuclear Type 18 |
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Death in infancy, Respiratory failure |
OMIM:618240 |
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome |
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Respiratory insufficiency due to muscle weakness, Respiratory failure, Recurrent aspiration pneum... |
ORPHA:2590 |
Osteogenesis Imperfecta, Type Xiii |
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Increased bone mineral density, Recurrent fractures, Dentinogenesis imperfecta, Osteoporosis, Red... |
OMIM:614856 |
Adult Acute Respiratory Distress Syndrome |
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Pneumonia, Dyspnea, Hypoxemia, Respiratory failure, Abnormal blood gas level |
ORPHA:70578 |
Chondrodysplasia, Blomstrand Type |
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Generalized osteosclerosis, Advanced ossification of carpal bones, Advanced tarsal ossification |
OMIM:215045 |
Avian Influenza |
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Respiratory distress, Miscarriage, Pneumonia, Productive cough, Nonproductive cough, Dyspnea, Tac... |
ORPHA:454836 |
Autoimmune Pulmonary Alveolar Proteinosis |
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Cyanosis, Crackles, Dyspnea, Hypoxemia, Restrictive ventilatory defect, Cough, Decreased DLCO |
ORPHA:747 |
Cap Myopathy |
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Central hypoventilation |
ORPHA:171881 |
Otodental Syndrome |
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Delayed eruption of teeth, Abnormal dental enamel morphology, Agenesis of premolar, Carious teeth... |
ORPHA:2791 |
Tyrosinemia Type 1 |
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Rickets of the lower limbs |
ORPHA:882 |
Plin1-Related Familial Partial Lipodystrophy |
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Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Hypertriglycer... |
ORPHA:280356 |
Isolated Polycystic Liver Disease |
|
Increased total bilirubin |
ORPHA:2924 |
Congenital Disorder Of Glycosylation, Type Iib |
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Hypoventilation |
OMIM:606056 |
Hypotonia, Hypoventilation, Impaired Intellectual Development, Dysautonomia, Epilepsy, And Eye Abnormalities |
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Hypoventilation, Recurrent pneumonia |
OMIM:618493 |
Acquired Methemoglobinemia |
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Hypoxemia, Dyspnea, Cyanosis, Respiratory distress |
ORPHA:464453 |
Osteosclerosis With Ichthyosis And Premature Ovarian Failure |
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Hypoplasia of the ovary, Osteosclerosis of the base of the skull |
OMIM:609993 |
Otopalatodigital Syndrome Type 1 |
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Increased bone mineral density, Abnormal vertebral segmentation and fusion, Limitation of joint m... |
ORPHA:90650 |
Dysosteosclerosis |
|
Craniofacial hyperostosis, Increased bone mineral density, Abnormal dental enamel morphology, Rec... |
ORPHA:1782 |
Lipoyltransferase 1 Deficiency |
|
Hyperglutaminemia, Hyperprolinemia, Increased total bilirubin |
OMIM:616299 |
Bile Acid Synthesis Defect, Congenital, 5 |
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Increased serum bile acid concentration, Increased total iron binding capacity, Hyperbilirubinemia |
OMIM:616278 |
Mogs-Cdg |
|
Respiratory distress, Hypoventilation, Apnea |
ORPHA:79330 |
Combined Oxidative Phosphorylation Defect Type 23 |
|
Stridor, Paroxysmal dyspnea, Respiratory failure, Cyanosis |
ORPHA:444013 |
Ciliary Dyskinesia, Primary, 42 |
|
Pneumonia, Reduced forced vital capacity, Chronic pulmonary obstruction, Bronchiectasis, Respirat... |
OMIM:618695 |
Epidermolysis Bullosa, Junctional 1A, Intermediate |
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Camptodactyly of finger, Oral mucosal blisters, Carious teeth, Hypodontia, Enamel hypoplasia |
OMIM:226650 |
Renal Tubular Acidosis Iii |
|
Rickets, Osteomalacia |
OMIM:267200 |
Osteopetrosis, Autosomal Recessive 1 |
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Increased bone mineral density, Osteomyelitis, Craniosynostosis, Osteopetrosis, Pathologic fractu... |
OMIM:259700 |
Hereditary Methemoglobinemia |
|
Cyanosis, Exertional dyspnea |
ORPHA:621 |
Bile Acid Conjugation Defect 1 |
|
Rickets |
OMIM:619232 |
Buerger Disease |
|
Acrocyanosis |
ORPHA:36258 |
Benign Familial Neonatal Epilepsy |
|
Circumoral cyanosis, Apnea |
ORPHA:1949 |
Stuve-Wiedemann Syndrome 2 |
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Respiratory distress, Death in adolescence, Stillbirth, Neonatal death, Pulmonary arterial hypert... |
OMIM:619751 |
Congenital Muscular Dystrophy With Intellectual Disability |
|
Respiratory failure, Respiratory insufficiency |
ORPHA:370968 |
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome |
|
Neonatal death, Respiratory insufficiency |
OMIM:601612 |
Premature Ovarian Failure 5 |
|
Streak ovary, Hypoplasia of the ovary |
OMIM:611548 |
Congenital Neuronal Ceroid Lipofuscinosis |
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Neonatal respiratory distress, Apnea, Respiratory failure |
ORPHA:168486 |
Tricho-Dento-Osseous Syndrome |
|
Increased bone mineral density, Enamel hypomineralization, Dental enamel pits |
ORPHA:3352 |
Dermatosparaxis Ehlers-Danlos Syndrome |
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Osteopenia, Inguinal hernia, Abnormality of subcutaneous fat tissue, Osteomalacia, Femoral hernia... |
ORPHA:1901 |
Idiopathic Congenital Hypothyroidism |
|
Macroglossia, Umbilical hernia, Neonatal hyperbilirubinemia |
ORPHA:95717 |
Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction |
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Hypoventilation, Apnea, Hypopnea, Restrictive ventilatory defect, Aspiration pneumonia |
OMIM:619482 |
Cholestasis, Benign Recurrent Intrahepatic, 1 |
|
Conjugated hyperbilirubinemia, Increased serum bile acid concentration |
OMIM:243300 |
Neuromyelitis Optica Spectrum Disorder |
|
Respiratory failure |
ORPHA:71211 |
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia |
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Respiratory distress, Death in infancy, Tachypnea, Respiratory insufficiency, Respiratory failure |
OMIM:614299 |
Ovarian Dysgenesis 10 |
|
Streak ovary, Elevated circulating follicle stimulating hormone level, Elevated circulating lutei... |
OMIM:619834 |
Amelo-Onycho-Hypohidrotic Syndrome |
|
Delayed eruption of teeth, Abnormality of dental color, Abnormal dental morphology, Abnormal dent... |
ORPHA:1028 |
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency |
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Hypertyrosinemia, Decreased HDL cholesterol concentration, Abnormal circulating lipid concentrati... |
ORPHA:247598 |
Osteopetrosis, Autosomal Recessive 8 |
|
Failure to thrive, Osteopetrosis |
OMIM:615085 |
Majeed Syndrome |
|
Increased bone mineral density, Osteomyelitis, Cachexia, Flexion contracture, Synovitis, Increase... |
ORPHA:77297 |
Combined Oxidative Phosphorylation Deficiency 52 |
|
Death in infancy, Respiratory failure |
OMIM:619386 |
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness |
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Increased bone mineral density, Osteopetrosis, Decreased body weight |
OMIM:617306 |
Infantile Sialic Acid Storage Disease |
|
Conjugated hyperbilirubinemia, High palate, Gingival overgrowth |
OMIM:269920 |
Larsen-Like Syndrome, Lethal Type |
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Tracheomalacia, Neonatal death, Respiratory insufficiency |
OMIM:245650 |
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome |
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Streak ovary, Abnormality of female external genitalia, Increased circulating gonadotropin level,... |
ORPHA:168563 |
Megaloblastic Anemia, Folate-Responsive |
|
Increased circulating ferritin concentration, Hyperbilirubinemia, Hyperhomocystinemia |
OMIM:601775 |
Hypocalcemic Vitamin D-Resistant Rickets |
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Recurrent fractures, Osteomalacia, Bone cyst, Osteolysis, Abnormal adipose tissue morphology, Abn... |
ORPHA:93160 |
Spinal Muscular Atrophy With Congenital Bone Fractures 2 |
|
Neonatal respiratory distress, Respiratory failure |
OMIM:616867 |
Cholestasis-Lymphedema Syndrome |
|
Conjugated hyperbilirubinemia, Hyperlipidemia |
OMIM:214900 |
Congenital Hypothyroidism Due To Transplacental Passage Of Tsh-Binding Inhibitory Antibodies |
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Conjugated hyperbilirubinemia, Umbilical hernia, Abnormal circulating thyroglobulin level, Goiter |
ORPHA:95715 |
Ovarian Dysgenesis 2 |
|
Hypoplasia of the uterus, Streak ovary, Hypergonadotropic hypogonadism |
OMIM:300510 |
Steroid Dehydrogenase Deficiency-Dental Anomalies Syndrome |
|
Supernumerary tooth, Enamel hypoplasia, Abnormal dental enamel morphology |
ORPHA:3196 |
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss |
|
Failure to thrive, Rickets |
OMIM:602722 |
Hypermethioninemia Due To Adenosine Kinase Deficiency |
|
Elevated circulating creatine kinase concentration, Elevated circulating S-adenosyl-L-methionine ... |
OMIM:614300 |
Albers-Schönberg Osteopetrosis |
|
Osteomyelitis, Recurrent fractures, Mandibular osteomyelitis, Generalized osteosclerosis, Osteoar... |
ORPHA:53 |
Prader-Willi Syndrome |
|
Hypoventilation, Cutaneous photosensitivity |
OMIM:176270 |
Diastrophic Dysplasia |
|
Joint hyperflexibility, Increased bone mineral density, Camptodactyly of finger, Joint stiffness |
ORPHA:628 |
Camurati-Engelmann Disease |
|
Reduced subcutaneous adipose tissue, Increased bone mineral density, Diaphyseal sclerosis, Cortic... |
OMIM:131300 |
Craniometaphyseal Dysplasia |
|
Craniofacial hyperostosis, Osteopetrosis |
ORPHA:1522 |
Shaheen Syndrome |
|
Carious teeth, Enamel hypoplasia |
OMIM:615328 |
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency |
|
Increased circulating ferritin concentration, Elevated transferrin saturation, Increased serum ir... |
ORPHA:766 |
Tricuspid Atresia |
|
Cyanosis |
ORPHA:1209 |
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Impaired Intellectual Development Syndrome |
|
Streak ovary, Hypospadias, Cryptorchidism, Abnormality of the uterus, Gonadoblastoma, Abnormal va... |
OMIM:194072 |
Multiple Mitochondrial Dysfunctions Syndrome 1 |
|
Death in infancy, Respiratory insufficiency, Respiratory failure, Neonatal death, Pulmonary arter... |
OMIM:605711 |
Paget Disease Of Bone 5, Juvenile-Onset |
|
Osteopenia, Increased bone mineral density, Recurrent fractures, Macular scar, Ankylosis, Osteopo... |
OMIM:239000 |
Leigh Syndrome |
|
Respiratory failure, Abnormal pattern of respiration, Respiratory insufficiency |
OMIM:256000 |
Metaphyseal Dysplasia, Braun-Tinschert Type |
|
Osteopenia, Increased bone mineral density, Sclerosis of proximal finger phalanx, Sclerosis of mi... |
ORPHA:85188 |
Spondyloepiphyseal Dysplasia Tarda |
|
Increased bone mineral density, Osteoarthritis of the distal interphalangeal joint, Abnormally os... |
ORPHA:93284 |
Dentinogenesis Imperfecta 1 |
|
Dentinogenesis imperfecta, Yellow-brown discoloration of the teeth |
OMIM:125490 |
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease |
|
Hypertriglyceridemia, Elevated circulating C-reactive protein concentration, Increased circulatin... |
ORPHA:158057 |
Beemer-Ertbruggen Syndrome |
|
Increased bone mineral density |
ORPHA:1237 |
Familial Thyroid Dyshormonogenesis |
|
Macroglossia, Umbilical hernia, Abnormal circulating thyroglobulin level, Neonatal hyperbilirubin... |
ORPHA:95716 |
Hijazi-Reis Syndrome |
|
Hyperbilirubinemia |
OMIM:301094 |
Premature Ovarian Failure 8 |
|
Streak ovary, Elevated circulating follicle stimulating hormone level, Elevated circulating lutei... |
OMIM:615723 |
Perrault Syndrome 3 |
|
Streak ovary, Hypergonadotropic hypogonadism, Elevated circulating luteinizing hormone level, Hyp... |
OMIM:614129 |
Pyruvate Dehydrogenase E1-Alpha Deficiency |
|
Respiratory failure, Apneic episodes precipitated by illness, fatigue, stress |
OMIM:312170 |
Charcot-Marie-Tooth Disease Type 4C |
|
Hypoventilation, Respiratory insufficiency |
ORPHA:99949 |
Snakebite Envenomation |
|
Epistaxis, Angioedema, Erythema, Respiratory failure, Respiratory paralysis, Ecchymosis |
ORPHA:449285 |
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome |
|
Delayed patellar ossification, Increased bone mineral density, Abnormal bone ossification |
ORPHA:163649 |
Osteopetrosis, Autosomal Recessive 2 |
|
Osteomyelitis, Recurrent fractures, Mandibular osteomyelitis, Cranial hyperostosis, Diaphyseal sc... |
OMIM:259710 |
Multiple Mitochondrial Dysfunctions Syndrome 3 |
|
Respiratory failure, Respiratory insufficiency |
OMIM:615330 |
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia |
|
Hypogonadotropic hypogonadism, Cryptorchidism, Hypoplasia of the uterus, Hypoplasia of the ovary,... |
OMIM:614841 |
Premature Ovarian Failure 10 |
|
Elevated circulating luteinizing hormone level, Azoospermia, Hypoplasia of the ovary, Elevated ci... |
OMIM:612885 |
Cleft Lip/Palate |
|
Agenesis of lateral incisor, Bilateral cleft palate, Hypoplasia of the maxilla, Velopharyngeal in... |
ORPHA:199306 |
Congenital Tracheomalacia |
|
Neonatal respiratory distress, Cyanosis, Apnea, Intercostal retractions, Pneumonia, Productive co... |
ORPHA:95430 |
Restrictive Dermopathy 2 |
|
Respiratory distress, Cyanosis |
OMIM:619793 |
Niemann-Pick Disease, Type C2 |
|
Death in infancy, Neonatal respiratory distress, Jaundice, Respiratory insufficiency, Death in ch... |
OMIM:607625 |
Intermediate Nemaline Myopathy |
|
Respiratory failure |
ORPHA:171433 |
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency |
|
Delayed eruption of teeth, Hypogonadism, Neonatal hyperbilirubinemia, Micrognathia |
ORPHA:73272 |
Perrault Syndrome 2 |
|
Streak ovary |
OMIM:614926 |
Cholestasis, Benign Recurrent Intrahepatic, 2 |
|
Conjugated hyperbilirubinemia, Cholelithiasis |
OMIM:605479 |
46,Xy Sex Reversal 7 |
|
Streak ovary, Hypoplasia of the fallopian tube, Hypoplasia of the uterus, Sex reversal, Gonadobla... |
OMIM:233420 |
Peroxisome Biogenesis Disorder 12A (Zellweger) |
|
Prominence of the premaxilla, Elevated circulating long chain fatty acid concentration, Hyperbili... |
OMIM:614886 |
Pulmonary Capillary Hemangiomatosis |
|
Cyanosis, Dyspnea, Hemothorax, Hypoxemia, Elevated pulmonary artery pressure, Decreased DLCO, Ple... |
ORPHA:199241 |
Rudiger Syndrome |
|
Inguinal hernia, Flexion contracture, Ovarian cyst, Bicornuate uterus, Micropenis |
OMIM:268650 |
Bachmann-Bupp Syndrome |
|
Cryptorchidism, Thin upper lip vermilion, High palate, Hyperbilirubinemia |
OMIM:619075 |
46,Xy Complete Gonadal Dysgenesis |
|
Male pseudohermaphroditism, Hypogonadotropic hypogonadism, Testicular dysgenesis, Polycystic ovaries |
ORPHA:242 |
Combined Oxidative Phosphorylation Deficiency 4 |
|
Death in infancy, Respiratory failure |
OMIM:610678 |
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type) |
|
Conjugated hyperbilirubinemia, Hyperkalemia, Hypoalbuminemia, Increased total bilirubin |
OMIM:618528 |
Tibial Muscular Dystrophy |
|
Respiratory failure |
ORPHA:609 |
Distal Xq28 Microduplication Syndrome |
|
Dental crowding, Short lingual frenulum, Hypoplasia of the maxilla, Thick lower lip vermilion, Hi... |
ORPHA:293939 |
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 1 |
|
Respiratory failure, Tachypnea, Inspiratory stridor, Ventilator dependence with inability to wean |
OMIM:604320 |
Pontocerebellar Hypoplasia Type 1 |
|
Respiratory failure, Congenital laryngeal stridor |
ORPHA:2254 |
Immunodeficiency 54 |
|
Respiratory failure, Respiratory insufficiency |
OMIM:609981 |
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair |
|
Decreased response to growth hormone stimulation test, Adrenocorticotropic hormone deficiency, Go... |
OMIM:609734 |
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome |
|
Respiratory insufficiency due to muscle weakness, Dyspnea, Respiratory failure |
ORPHA:352447 |
Combined Oxidative Phosphorylation Deficiency 11 |
|
Death in infancy, Respiratory failure, Stillbirth, Death in childhood, Neonatal death |
OMIM:614922 |
Neuropathy, Congenital Hypomyelinating, 3 |
|
Neonatal death, Respiratory failure, Respiratory insufficiency |
OMIM:618186 |
Hepatic Adenomas, Familial |
|
Polycystic ovaries |
OMIM:142330 |
Pulmonary Arteriovenous Malformation |
|
Cyanosis, Epistaxis, Dyspnea, Telangiectasia, Hypoxemia, Pleural empyema, Cough, Pulmonary arteri... |
ORPHA:2038 |
Neurodevelopmental Disorder With Microcephaly, Seizures, And Neonatal Cholestasis |
|
Bilateral cryptorchidism, Increased serum bile acid concentration, Hyperbilirubinemia |
OMIM:619685 |
Lipe-Related Familial Partial Lipodystrophy |
|
Loss of subcutaneous adipose tissue in limbs, Hypertriglyceridemia, Lipodystrophy, Elevated circu... |
ORPHA:435660 |
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome |
|
Hypoventilation, Cyanosis, Central hypoventilation, Asthma, Cardiorespiratory arrest |
ORPHA:293987 |
Premature Ovarian Failure 9 |
|
Hypoplasia of the ovary, Elevated circulating follicle stimulating hormone level, Elevated circul... |
OMIM:615724 |
Triosephosphate Isomerase Deficiency |
|
Respiratory distress, Death in infancy, Respiratory insufficiency due to muscle weakness, Jaundic... |
OMIM:615512 |
Idiopathic Pulmonary Hemosiderosis |
|
Crackles, Dyspnea, Restrictive ventilatory defect, Respiratory failure, Cough |
ORPHA:99931 |
Spherocytosis, Type 1 |
|
Cholelithiasis, Hyperbilirubinemia |
OMIM:182900 |
Premature Ovarian Failure 21 |
|
Streak ovary, Precocious puberty in females, Elevated circulating follicle stimulating hormone level |
OMIM:620311 |
Premature Ovarian Failure 18 |
|
Hypoplasia of the uterus, Hypoplasia of the ovary, Elevated circulating follicle stimulating horm... |
OMIM:619203 |
Craniometadiaphyseal Dysplasia, Wormian Bone Type |
|
Osteopenia, Increased bone mineral density, Thin bony cortex |
ORPHA:85184 |
Congenital Dyserythropoietic Anemia Type Iii |
|
Increased serum iron, Increased total iron binding capacity, Hyperbilirubinemia, Gingival bleeding |
ORPHA:98870 |
Imperforate Oropharynx-Costovertebral Anomalies Syndrome |
|
Respiratory distress, Dyspnea, Respiratory failure |
ORPHA:2759 |
Cholestasis, Progressive Familial Intrahepatic, 1 |
|
Osteopenia, Failure to thrive, Rickets |
OMIM:211600 |
Congenital Heart Block |
|
Pleural effusion, Cyanosis, Crackles |
ORPHA:60041 |
Normosmic Congenital Hypogonadotropic Hypogonadism |
|
Hypogonadotropic hypogonadism, Female hypogonadism, Abnormality of the dentition, Non-obstructive... |
ORPHA:432 |
Vitamin D Hydroxylation-Deficient Rickets, Type 1B |
|
Recurrent fractures, Delayed epiphyseal ossification, Rickets, Sparse bone trabeculae, Failure to... |
OMIM:600081 |
Diaphyseal Medullary Stenosis With Malignant Fibrous Histiocytoma |
|
Osteopenia, Diaphyseal cortical sclerosis, Patchy osteosclerosis, Fractures of the long bones, Os... |
OMIM:112250 |
Ovarian Dysgenesis 9 |
|
Hypoplasia of the uterus, Hypoplasia of the ovary, Elevated circulating follicle stimulating horm... |
OMIM:619665 |
Graft Versus Host Disease |
|
Fasciitis, Dupuytren contracture, Lipodystrophy, Trismus, Oral ulcer, Hyperbilirubinemia, Stomatitis |
ORPHA:39812 |
Severe Neurodegenerative Syndrome With Lipodystrophy |
|
Reduced subcutaneous adipose tissue, Respiratory failure |
ORPHA:363400 |
Congenital Muscular Dystrophy, Ullrich Type |
|
Respiratory failure |
ORPHA:75840 |
Congenital Tricuspid Valve Dysplasia |
|
Respiratory failure requiring assisted ventilation, Cyanosis, Tachypnea, Hypoxemia, Respiratory f... |
ORPHA:555874 |
Encephalopathy, Ethylmalonic |
|
Death in infancy, Acrocyanosis, Petechiae |
OMIM:602473 |
Premature Ovarian Failure 6 |
|
Hypoplasia of the uterus, Streak ovary, Elevated circulating follicle stimulating hormone level, ... |
OMIM:612310 |
Fanconi Renotubular Syndrome 2 |
|
Osteopenia, Recurrent fractures, Osteomalacia, Rickets |
OMIM:613388 |
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type) |
|
Tracheomalacia, Hypoventilation, Jaundice |
OMIM:203700 |
Scedosporiosis |
|
Bronchial breath sound, Sinusitis, Pneumonia, Abnormal respiratory system physiology, Respiratory... |
ORPHA:449280 |
Perrault Syndrome 6 |
|
Hypoplasia of the uterus, Streak ovary |
OMIM:617565 |
Werner Syndrome |
|
Increased bone mineral density, Lipoatrophy, Lipodystrophy, Joint stiffness, Osteoporosis, Slende... |
ORPHA:902 |
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type |
|
Respiratory failure |
ORPHA:70472 |
Hypophosphatemic Rickets, X-Linked Recessive |
|
Recurrent fractures, Osteomalacia, Delayed epiphyseal ossification, Rickets, Sparse bone trabecul... |
OMIM:300554 |
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6 |
|
Respiratory failure |
OMIM:613954 |
Criss-Cross Heart |
|
Cyanosis, Respiratory insufficiency |
ORPHA:1461 |
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency |
|
Cholelithiasis, Hyperbilirubinemia |
OMIM:235700 |
Fructose-1,6-Bisphosphatase Deficiency |
|
Dyspnea, Apnea, Hyperventilation |
OMIM:229700 |
Autosomal Recessive Polycystic Kidney Disease |
|
Hypoventilation, Spontaneous pneumothorax, Jaundice, Recurrent pneumonia, Respiratory failure |
ORPHA:731 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5 |
|
Restrictive ventilatory defect, Respiratory failure |
OMIM:606612 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 8 |
|
Respiratory failure, Tachypnea, Death in childhood |
OMIM:615838 |
Glycogen Storage Disease Vii |
|
Cholelithiasis, Elevated circulating creatine kinase concentration, Hyperuricemia, Increased tota... |
OMIM:232800 |
Pmm2-Cdg |
|
Mandibular prognathia, Thin upper lip vermilion, Multiple joint contractures, Lipodystrophy, Hypo... |
ORPHA:79318 |
Harderoporphyria |
|
Increased circulating ferritin concentration, Neonatal hyperbilirubinemia |
OMIM:618892 |
Peroxisome Biogenesis Disorder 4A (Zellweger) |
|
Death in infancy, Respiratory failure |
OMIM:614862 |
Renal Tubular Acidosis, Distal, 1 |
|
Pathologic fracture, Osteomalacia |
OMIM:179800 |
Van Der Woude Syndrome 2 |
|
Lip pit, Cleft upper lip, Dental malocclusion, Cleft palate, Hypodontia, Anodontia |
OMIM:606713 |
Hypogonadotropic Hypogonadism 25 With Anosmia |
|
Cryptorchidism, Micropenis, Hypoplasia of the ovary |
OMIM:618841 |
Pulmonary Alveolar Microlithiasis |
|
Cyanosis, Increased pulmonary vascular resistance, Nonproductive cough, Dyspnea, Tachypnea, Pneum... |
ORPHA:60025 |
Hypophosphatemic Rickets With Hypercalciuria, Hereditary |
|
Recurrent fractures, Delayed epiphyseal ossification, Rickets, Sparse bone trabeculae, Hypophosph... |
OMIM:241530 |
46,Xx Difference Of Sex Development-Skeletal Anomalies Syndrome |
|
Hypoplasia of the premaxilla, Fused labia minora, Micrognathia, Ambiguous genitalia, female, Abno... |
ORPHA:2975 |
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9 |
|
Respiratory distress, Death in infancy, Neonatal respiratory distress, Cyanosis, Apnea, Hypopnea,... |
OMIM:618426 |
46,Xx Ovotesticular Difference Of Sex Development |
|
Bifid scrotum, Abnormal male internal genitalia morphology, Hypoplasia of penis, Small scrotum, H... |
ORPHA:2138 |
Spherocytosis, Type 4 |
|
Hyperbilirubinemia |
OMIM:612653 |
Lipodystrophy, Familial Partial, Type 3 |
|
Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Decreased HDL ... |
OMIM:604367 |
Autosomal Dominant Hypophosphatemic Rickets |
|
Rickets, Osteomalacia |
ORPHA:89937 |
Amyotrophic Lateral Sclerosis |
|
Dyspnea, Respiratory failure, Abnormal respiratory system physiology |
ORPHA:803 |
Congenital Bile Acid Synthesis Defect Type 2 |
|
Conjugated hyperbilirubinemia, Hyperbilirubinemia, Abnormal serum bile acid concentration |
ORPHA:79303 |
Congenital Bile Acid Synthesis Defect Type 3 |
|
Bile duct proliferation, Hyperbilirubinemia |
ORPHA:79302 |
Hereditary Hypophosphatemic Rickets With Hypercalciuria |
|
Hypophosphatemic rickets, Pathologic fracture, Osteomalacia, Reduced bone mineral density |
ORPHA:157215 |
Mandibuloacral Dysplasia |
|
Loss of subcutaneous adipose tissue in limbs, Hypertriglyceridemia, Lipoatrophy, Dental crowding,... |
ORPHA:2457 |
Amelocerebrohypohidrotic Syndrome |
|
Abnormality of dental color, Yellow-brown discoloration of the teeth, Abnormal dental enamel morp... |
ORPHA:1946 |
Alg1-Cdg |
|
Respiratory failure |
ORPHA:79327 |
Perrault Syndrome 4 |
|
Increased circulating gonadotropin level, Cleft palate, Hypoplasia of the uterus, Bicornuate uter... |
OMIM:615300 |
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia |
|
Failure to thrive, Rickets |
OMIM:611590 |
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia |
|
Failure to thrive, Osteoporosis, Rickets |
OMIM:560000 |
Autosomal Recessive Hypophosphatemic Rickets |
|
Abnormal trabecular bone morphology, Increased bone mineral density, Osteomalacia, Craniosynostos... |
ORPHA:289176 |
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic |
|
Cyanosis, Apnea |
OMIM:261680 |
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans |
|
Respiratory distress, Central apnea, Respiratory failure, Neonatal death, Palmoplantar cutis laxa... |
OMIM:616482 |
Osteopathia Striata-Cranial Sclerosis Syndrome |
|
Facial hyperostosis, Increased bone mineral density, Osteopetrosis, Coarse metaphyseal trabecular... |
ORPHA:2780 |
Dilated Cardiomyopathy-Hypergonadotropic Hypogonadism Syndrome |
|
Precocious puberty, Hypergonadotropic hypogonadism, Polycystic ovaries |
ORPHA:2229 |
Frasier Syndrome |
|
Streak ovary, Hypergonadotropic hypogonadism, Increased circulating gonadotropin level, Male pseu... |
ORPHA:347 |
Peripartum Cardiomyopathy |
|
Orthopnea, Crackles, Dyspnea, Asthma, Respiratory failure, Paroxysmal dyspnea, Pulmonary arterial... |
ORPHA:563 |
Myasthenic Syndrome, Congenital, 21, Presynaptic |
|
Cyanosis, Apnea, Respiratory insufficiency |
OMIM:617239 |
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy |
|
Death in infancy, Respiratory failure |
ORPHA:1194 |
Mercury Poisoning |
|
Respiratory distress, Dyspnea, Respiratory failure, Interstitial pneumonitis |
ORPHA:330021 |
Chiari Malformation Type Ii |
|
Cyanosis, Inspiratory stridor |
OMIM:207950 |
Fanconi Renotubular Syndrome 3 |
|
Rickets |
OMIM:615605 |
Cidec-Related Familial Partial Lipodystrophy |
|
Loss of subcutaneous adipose tissue in limbs, Hypertriglyceridemia, Lipodystrophy, Loss of glutea... |
ORPHA:435651 |
Pycnodysostosis |
|
Joint laxity, Increased bone mineral density, Overweight, Generalized osteosclerosis, Increased s... |
ORPHA:763 |
Bile Acid Synthesis Defect, Congenital, 4 |
|
Decreased serum bile acid concentration, Hyperbilirubinemia |
OMIM:214950 |
Impacted Teeth, Multiple |
|
Supernumerary tooth, Multiple impacted teeth |
OMIM:308280 |
Jalili Syndrome |
|
Abnormality of dental color, Abnormal dental enamel morphology, Amelogenesis imperfecta |
ORPHA:1873 |
Gaucher Disease Type 1 |
|
Osteopenia, Increased bone mineral density, Osteoarthritis, Osteolysis, Pathologic fracture |
ORPHA:77259 |
Isolated Right Ventricular Hypoplasia |
|
Hypoxemia, Dyspnea, Cyanosis |
ORPHA:439 |
Muscular Dystrophy, Congenital, With Or Without Seizures |
|
Respiratory distress, Respiratory failure |
OMIM:620166 |
Nephronophthisis 2 |
|
Respiratory failure, Respiratory insufficiency |
OMIM:602088 |
Cholestasis, Progressive Familial Intrahepatic, 8 |
|
Elevated circulating alpha-fetoprotein concentration, Conjugated hyperbilirubinemia, Bile duct pr... |
OMIM:619662 |
Adenosine Deaminase, Elevated, Hemolytic Anemia Due To |
|
Hyperbilirubinemia |
OMIM:301083 |
Fanconi-Bickel Syndrome |
|
Reduced subcutaneous adipose tissue, Hypouricemia, Hypophosphatemia, Hypokalemia, Hypergalactosem... |
OMIM:227810 |
Bile Acid Synthesis Defect, Congenital, 2 |
|
Hyperbilirubinemia |
OMIM:235555 |
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant |
|
Central apnea, Respiratory failure, Respiratory insufficiency due to muscle weakness |
OMIM:618291 |
Infantile Systemic Hyalinosis |
|
Osteopenia, Recurrent fractures, Osteomalacia, Camptodactyly of finger, Joint stiffness, Osteopor... |
ORPHA:2176 |
Thoracic Dysplasia-Hydrocephalus Syndrome |
|
Respiratory failure |
ORPHA:1861 |
Hereditary Motor And Sensory Neuropathy, Type Iic |
|
Stridor, Respiratory failure, Intercostal muscle weakness |
OMIM:606071 |
Hemophagocytic Lymphohistiocytosis, Familial, 1 |
|
Hyponatremia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Increased VLDL chole... |
OMIM:267700 |
Car T Cell Therapy-Associated Cytokine Release Syndrome |
|
Hypoxemia, Pleural effusion, Tachypnea, Respiratory failure |
ORPHA:542323 |
Primary Ciliary Dyskinesia |
|
Neonatal respiratory distress, Productive cough, Wheezing, Bronchiectasis, Respiratory failure, C... |
ORPHA:244 |
46,Xy Partial Gonadal Dysgenesis |
|
Hypoplasia of the vagina, Hypoplasia of penis, Vanishing testis, Micropenis, Ovarian gonadoblasto... |
ORPHA:251510 |
Spherocytosis, Type 2 |
|
Hyperbilirubinemia |
OMIM:616649 |
Autoimmune Hypoparathyroidism |
|
Increased bone mineral density |
ORPHA:36913 |
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type |
|
Rickets |
OMIM:219900 |
Congenital Myasthenic Syndrome |
|
Cyanosis, Sudden episodic apnea, Intermittent episodes of respiratory insufficiency due to muscle... |
ORPHA:590 |
Presynaptic Congenital Myasthenic Syndromes |
|
Cyanosis, Sudden episodic apnea, Intermittent episodes of respiratory insufficiency due to muscle... |
ORPHA:98914 |
Anemia, Sideroblastic, 3, Pyridoxine-Refractory |
|
Conjugated hyperbilirubinemia, Increased circulating ferritin concentration, Elevated hepatic iro... |
OMIM:616860 |
Joubert Syndrome 8 |
|
Hyperventilation, Prolonged neonatal jaundice |
OMIM:612291 |
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome |
|
Hypogonadotropic hypogonadism, Reduced circulating prolactin concentration, Abnormality of the de... |
ORPHA:2235 |
Vitamin D Hydroxylation-Deficient Rickets, Type 1A |
|
Recurrent fractures, Delayed epiphyseal ossification, Rickets, Sparse bone trabeculae, Enamel hyp... |
OMIM:264700 |
Deafness-Lymphedema-Leukemia Syndrome |
|
Respiratory failure, Bruising susceptibility |
ORPHA:3226 |
Rh-Null, Regulator Type |
|
Unconjugated hyperbilirubinemia |
OMIM:268150 |
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Elevated circulating creatine kinase concentration, Elevated circulating long chain fatty acid co... |
OMIM:608836 |
Lethal Congenital Contracture Syndrome 2 |
|
Respiratory failure |
OMIM:607598 |
Obesity Due To Congenital Leptin Deficiency |
|
Hypertriglyceridemia, Hypergonadotropic hypogonadism, Pituitary hypothyroidism, Hypoplasia of the... |
ORPHA:66628 |
Vitamin D-Dependent Rickets, Type 2A |
|
Recurrent fractures, Delayed epiphyseal ossification, Rickets, Sparse bone trabeculae, Enamel hyp... |
OMIM:277440 |
Spastic Paraplegia 29, Autosomal Dominant |
|
Neonatal hyperbilirubinemia, Hiatus hernia |
OMIM:609727 |
Poems Syndrome |
|
Sclerosis of hand bone, Lipodystrophy, Sclerosis of foot bone, Weight loss, Sclerosis of skull base |
ORPHA:2905 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 1 |
|
Respiratory distress, Respiratory insufficiency due to muscle weakness, Respiratory failure, Deat... |
OMIM:220110 |
Hypocalcemic Vitamin D-Dependent Rickets |
|
Osteomalacia, Delayed epiphyseal ossification, Rickets, Increased susceptibility to fractures, Sp... |
ORPHA:289157 |
Dysostosis, Stanescu Type |
|
Massively thickened long bone cortices, Increased bone mineral density, Abnormal dental enamel mo... |
ORPHA:1798 |
3-Methylglutaconic Aciduria, Type Viii |
|
Death in infancy, Apnea, Jaundice, Hypopnea, Respiratory failure, Neonatal death, Respiratory arrest |
OMIM:617248 |
Akt2-Related Familial Partial Lipodystrophy |
|
Increased intraabdominal fat, Hypertriglyceridemia, Lipodystrophy, Polycystic ovaries |
ORPHA:79085 |
Cholestasis, Progressive Familial Intrahepatic, 6 |
|
Conjugated hyperbilirubinemia |
OMIM:619484 |
Spinocerebellar Ataxia Type 1 |
|
Respiratory failure |
ORPHA:98755 |
Sepsis In Premature Infants |
|
Cyanosis, Abnormal mucociliary clearance, Dyspnea, Jaundice, Nasal flaring, Abnormal respiratory ... |
ORPHA:90051 |
Satoyoshi Syndrome |
|
Hypoplasia of the uterus, Hypoplasia of the ovary, Abnormality of the ovary, Abnormality of the u... |
ORPHA:3130 |
Dysosteosclerosis |
|
Osteopenia, Sclerosis of hand bone, Sclerotic scapulae, Increased susceptibility to fractures, Sc... |
OMIM:224300 |
Liver Failure, Infantile, Transient |
|
Hypoalbuminemia, Hyperbilirubinemia |
OMIM:613070 |
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency |
|
Hyperbilirubinemia |
ORPHA:713 |
Hypophosphatemic Rickets, X-Linked Dominant |
|
Osteomalacia, Osteoarthritis, Enamel hypomineralization, Rickets, Hypophosphatemic rickets |
OMIM:307800 |
Congenital Myopathy 10B, Mild Variant |
|
Reduced forced vital capacity, Respiratory failure, Recurrent pneumonia |
OMIM:620249 |
Dubin-Johnson Syndrome |
|
Conjugated hyperbilirubinemia |
ORPHA:234 |
Boutonneuse Fever |
|
Respiratory failure, Petechiae |
ORPHA:83313 |
Fibrodysplasia Ossificans Progressiva |
|
Respiratory failure, Respiratory insufficiency |
OMIM:135100 |
Obesity Due To Leptin Receptor Gene Deficiency |
|
Hypertriglyceridemia, Hypergonadotropic hypogonadism, Pituitary hypothyroidism, Hypoplasia of the... |
ORPHA:179494 |
Lipodystrophy, Familial Partial, Type 2 |
|
Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Decreased HDL ... |
OMIM:151660 |
Metatropic Dysplasia |
|
Respiratory failure, Respiratory insufficiency |
OMIM:156530 |
Elliptocytosis 2 |
|
Neonatal hyperbilirubinemia |
OMIM:130600 |
Carnitine-Acylcarnitine Translocase Deficiency |
|
Cyanosis, Sudden episodic apnea, Respiratory insufficiency |
ORPHA:159 |
Drug-Induced Autoimmune Hemolytic Anemia |
|
Increased total bilirubin |
ORPHA:90037 |
Hypothyroidism Due To Tsh Receptor Mutations |
|
Increased circulating thyroglobulin level, Neonatal hyperbilirubinemia, Macroglossia, Umbilical h... |
ORPHA:90673 |
Congenital Generalized Lipodystrophy |
|
Mandibular prognathia, Overgrowth of external genitalia, Hypertriglyceridemia, Lipodystrophy, Pre... |
ORPHA:528 |
Cholestasis, Progressive Familial Intrahepatic, 5 |
|
Conjugated hyperbilirubinemia, Hyperammonemia, Elevated circulating alpha-fetoprotein concentration |
OMIM:617049 |
Lathosterolosis |
|
Thick upper lip vermilion, Bilobate gallbladder, Micrognathia, Gingival overgrowth, Abnormal circ... |
OMIM:607330 |
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly |
|
Respiratory distress, Respiratory failure |
OMIM:617895 |
Hypermanganesemia With Dystonia 1 |
|
Hypermanganesemia, Increased total iron binding capacity, Unconjugated hyperbilirubinemia |
OMIM:613280 |
Pseudohypoparathyroidism Type 1B |
|
Increased bone density with cystic changes, Increased bone mineral density, Diaphyseal sclerosis,... |
ORPHA:94089 |
Joubert Syndrome 17 |
|
Hyperventilation |
OMIM:614615 |
Cystic Echinococcosis |
|
Ovarian cyst, Hyperbilirubinemia, Abnormality of the testis size |
ORPHA:400 |
X-Linked Hypophosphatemia |
|
Odontodysplasia, Craniosynostosis, Generalized osteosclerosis, Limitation of joint mobility, Rick... |
ORPHA:89936 |
Neurodevelopmental Disorder With Poor Language And Loss Of Hand Skills |
|
Apnea, Hyperventilation |
OMIM:617903 |
Complete Atrioventricular Septal Defect |
|
Cyanosis, Intercostal retractions, Crackles, Wheezing, Tachypnea, Recurrent pneumonia, Elevated p... |
ORPHA:1329 |
Isolated Thyroid-Stimulating Hormone Deficiency |
|
Hypercholesterolemia, Neonatal hyperbilirubinemia, Pituitary hypothyroidism, Macroglossia, Macroo... |
ORPHA:90674 |
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome |
|
Pulmonary arterial hypertension, Respiratory failure, Respiratory insufficiency |
OMIM:613845 |
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 1 |
|
Bradypnea, Respiratory failure, Death in childhood |
OMIM:617186 |
Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy |
|
Respiratory failure |
OMIM:616505 |
Intrahepatic Cholestasis Of Pregnancy |
|
Increased serum bile acid concentration, Abnormal pineal melatonin secretion, Hyperbilirubinemia |
ORPHA:69665 |
Peroxisome Biogenesis Disorder 13A (Zellweger) |
|
Conjugated hyperbilirubinemia, Increased circulating very long-chain fatty acid concentration, Mi... |
OMIM:614887 |
Pituitary Hormone Deficiency, Combined, 6 |
|
Ectopic posterior pituitary, Posterior pituitary hypoplasia, Hyperbilirubinemia |
OMIM:613986 |
Wolcott-Rallison Syndrome |
|
Hyponatremia, Hyperammonemia, Hypoalbuminemia, Hyperbilirubinemia |
ORPHA:1667 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation |
|
Nocturnal hypoventilation |
ORPHA:453504 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion |
|
Nocturnal hypoventilation |
ORPHA:352665 |
Fanconi Renotubular Syndrome 1 |
|
Rickets, Osteomalacia |
OMIM:134600 |
Methemoglobinemia And Ambiguous Genitalia |
|
Cyanosis |
OMIM:250790 |
Pyruvate Kinase Deficiency Of Red Cells |
|
Cholelithiasis, Reduced haptoglobin level, Unconjugated hyperbilirubinemia |
OMIM:266200 |
Sickle Cell Anemia |
|
Pigment gallstones, Elevated circulating creatinine concentration, Unconjugated hyperbilirubinemia |
ORPHA:232 |
Arthrogryposis, Renal Dysfunction, And Cholestasis 1 |
|
Conjugated hyperbilirubinemia, Arthrogryposis multiplex congenita, Micrognathia |
OMIM:208085 |
Odontomicronychial Dysplasia |
|
Carious teeth, Premature eruption of permanent teeth, Premature loss of primary teeth, Abnormalit... |
ORPHA:1811 |
Leukocyte Adhesion Deficiency, Type Iii |
|
Osteopetrosis |
OMIM:612840 |
Congenital Myopathy 2C, Severe Infantile, Autosomal Dominant |
|
Respiratory distress, Death in infancy, Respiratory failure, Chylothorax, Death in childhood |
OMIM:620278 |
Dent Disease 1 |
|
Recurrent fractures, Osteomalacia, Delayed epiphyseal ossification, Rickets, Sparse bone trabecul... |
OMIM:300009 |
Anemia, Congenital Dyserythropoietic, Type Iv |
|
Hypospadias, Unconjugated hyperbilirubinemia, Hyperbilirubinemia, Micropenis, Reduced haptoglobin... |
OMIM:613673 |
Hepatoportal Sclerosis |
|
Hypoalbuminemia, Hyperbilirubinemia |
ORPHA:64743 |
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type) |
|
Hypertyrosinemia, Conjugated hyperbilirubinemia, Hypoalbuminemia, Hypermethioninemia, Hyperbiliru... |
OMIM:617156 |
Congenital Fibrinogen Deficiency |
|
Cyanosis, Bruising susceptibility, Subcutaneous hemorrhage |
ORPHA:335 |
Oculocerebrofacial Syndrome, Kaufman Type |
|
Respiratory distress, Dyspnea, Respiratory failure |
ORPHA:2707 |
Hereditary Elliptocytosis |
|
Cholelithiasis, Neonatal hyperbilirubinemia, Hyperbilirubinemia |
ORPHA:288 |
Ethylmalonic Encephalopathy |
|
Acrocyanosis, Petechiae |
ORPHA:51188 |
Congenitally Uncorrected Transposition Of The Great Arteries |
|
Hypoxemia, Cyanosis, Tachypnea |
ORPHA:860 |
Dehydrated Hereditary Stomatocytosis 2 |
|
Hyperbilirubinemia |
OMIM:616689 |
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form |
|
Cyanotic episode |
ORPHA:284417 |
Desmosterolosis |
|
Increased bone mineral density, Failure to thrive, Osteopetrosis |
ORPHA:35107 |
Bile Acid Synthesis Defect, Congenital, 1 |
|
Failure to thrive, Rickets |
OMIM:607765 |
Hypopigmentation, Organomegaly, And Delayed Myelination And Development |
|
Osteopetrosis |
OMIM:618541 |
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset |
|
Respiratory distress, Respiratory failure requiring assisted ventilation, Respiratory insufficien... |
ORPHA:308552 |
Lenz-Majewski Hyperostotic Dwarfism |
|
Increased bone mineral density, Inguinal hernia, Femoral hernia, Abnormal dental enamel morpholog... |
ORPHA:2658 |
Arthrogryposis, Renal Dysfunction, And Cholestasis 2 |
|
Conjugated hyperbilirubinemia, Arthrogryposis multiplex congenita |
OMIM:613404 |
Neurodegeneration, Childhood-Onset, With Progressive Microcephaly |
|
Respiratory failure, Death in childhood |
OMIM:619847 |
Otopalatodigital Syndrome Type 2 |
|
Omphalocele, Increased bone mineral density, Failure to thrive, Camptodactyly of finger, Tarsal s... |
ORPHA:90652 |
Mixed-Type Autoimmune Hemolytic Anemia |
|
Increased total bilirubin |
ORPHA:90036 |
Sandestig-Stefanova Syndrome |
|
Respiratory failure |
OMIM:618804 |
Bile Acid Synthesis Defect, Congenital, 3 |
|
Bile duct proliferation, Hyperbilirubinemia |
OMIM:613812 |
Dehydrated Hereditary Stomatocytosis |
|
Increased circulating ferritin concentration, Cholelithiasis, Abnormal blood potassium concentrat... |
ORPHA:3202 |
Mitchell-Riley Syndrome |
|
Absent gallbladder, Annular pancreas, Pancreatic hypoplasia, Hyperbilirubinemia |
OMIM:615710 |
Radio-Renal Syndrome |
|
Respiratory distress, Dyspnea, Respiratory failure, Chylothorax, Pleural effusion |
ORPHA:3015 |
Relapsing Fever |
|
Elevated circulating creatinine concentration, Elevated circulating C-reactive protein concentrat... |
ORPHA:91547 |
Osteopetrosis, Autosomal Recessive 3 |
|
Osteopetrosis, Cranial hyperostosis, Diaphyseal sclerosis |
OMIM:259730 |
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis |
|
Osteopetrosis, Increased skull ossification, Craniofacial osteosclerosis, Diaphyseal sclerosis |
OMIM:618476 |
46,Xx Gonadal Dysgenesis |
|
Streak ovary, Increased circulating gonadotropin level, Gonadal dysgenesis, Ambiguous genitalia, ... |
ORPHA:243 |
Congenital Multicore Myopathy With External Ophthalmoplegia |
|
Abnormal respiratory system physiology, Respiratory failure, Pneumonia |
ORPHA:98905 |
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome |
|
Hypoventilation, Apnea, Aspiration pneumonia, Breathing dysregulation |
ORPHA:438213 |
Atrial Septal Defect, Ostium Secundum Type |
|
Orthopnea, Cyanosis, Pneumonia, Breathing dysregulation, Increased pulmonary vascular resistance,... |
ORPHA:99103 |
Cholestasis, Progressive Familial Intrahepatic, 2 |
|
Conjugated hyperbilirubinemia |
OMIM:601847 |
Kenny-Caffey Syndrome, Type 2 |
|
Increased bone mineral density, Small for gestational age, Thickened cortex of long bones |
OMIM:127000 |
Waardenburg Syndrome Type 3 |
|
Tracheomalacia, Acrocyanosis |
ORPHA:896 |
Congenital Disorder Of Glycosylation, Type Iim |
|
Mandibular prognathia, Exaggerated cupid's bow, Neonatal hyperbilirubinemia, Fused teeth, High pa... |
OMIM:300896 |
Hypothyroidism, Congenital, Nongoitrous, 2 |
|
Increased circulating thyroglobulin level, Macroglossia, Ectopic thyroid, Hyperbilirubinemia, Umb... |
OMIM:218700 |
Pycnodysostosis |
|
Increased bone mineral density, Osteolytic defects of the distal phalanges of the hand |
OMIM:265800 |
Pyruvate Carboxylase Deficiency |
|
Hypoglutaminemia, Increased serum pyruvate, Hyperglutamatemia, Hyperammonemia, Hyperprolinemia, H... |
ORPHA:3008 |
Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Dyspnea, Restrictive ventilatory defect, Respiratory failure, Cardiorespiratory arrest |
ORPHA:26791 |
45,X/46,Xy Mixed Gonadal Dysgenesis |
|
Bifid scrotum, Micrognathia, Bilateral cryptorchidism, Epispadias, Ambiguous genitalia, female, A... |
ORPHA:1772 |
Tetrasomy 5P |
|
Respiratory distress, Pulmonary arterial hypertension, Cyanosis |
ORPHA:3309 |
Cranioectodermal Dysplasia 2 |
|
Inguinal hernia, Micrognathia, Cleft palate, Broad philtrum, Fused teeth, Bile duct proliferation... |
OMIM:613610 |
12Q14 Microdeletion Syndrome |
|
Osteopoikilosis, Failure to thrive |
ORPHA:94063 |
Atrial Septal Defect, Ostium Primum Type |
|
Cyanosis, Dyspnea, Tachypnea, Abnormal respiratory system physiology, Exertional dyspnea, Pulmona... |
ORPHA:99106 |
Osteopetrosis, Autosomal Recessive 5 |
|
Increased bone mineral density, Cranial hyperostosis, Decreased osteoclast count, Osteopetrosis |
OMIM:259720 |
Riddle Syndrome |
|
Conjunctival telangiectasia, Pneumonia, Neonatal asphyxia, Erythema, Recurrent pneumonia, Telangi... |
ORPHA:420741 |
Cholera |
|
Miscarriage, Tachypnea, Aspiration pneumonia, Palmoplantar cutis laxa, Hyperventilation |
ORPHA:173 |
Atrial Septal Defect, Coronary Sinus Type |
|
Cyanosis, Pneumonia, Increased pulmonary vascular resistance, Dyspnea, Pulmonary arterial hyperte... |
ORPHA:99104 |
Short Syndrome |
|
Delayed eruption of teeth, Inguinal hernia, Lipoatrophy, Lipodystrophy, Micrognathia, Absence of ... |
OMIM:269880 |
Ameloonychohypohidrotic Syndrome |
|
Marked delay in eruption of permanent teeth, Yellow-brown discoloration of the teeth, Hypocalcifi... |
OMIM:104570 |
Hsd10 Disease, Infantile Type |
|
Cyanosis |
ORPHA:391428 |
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome |
|
Absent gallbladder, Thin upper lip vermilion, Hypospadias, Cryptorchidism, Cleft palate, Short ph... |
ORPHA:163979 |
Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction |
|
Rickets, Recurrent fractures |
OMIM:268315 |
Peroxisome Biogenesis Disorder 5A (Zellweger) |
|
Hypospadias, Micrognathia, Conjugated hyperbilirubinemia, Cryptorchidism, Elevated circulating ph... |
OMIM:614866 |
Trichothiodystrophy |
|
Osteopenia, Increased bone mineral density, Multiple joint contractures, Craniosynostosis, Absenc... |
ORPHA:33364 |
Hypophosphatemic Rickets And Hyperparathyroidism |
|
Hypophosphatemic rickets, Rickets |
OMIM:612089 |
Ogden Syndrome |
|
Microretrognathia, Thin upper lip vermilion, Inguinal hernia, Everted upper lip vermilion, Abnorm... |
OMIM:300855 |
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type) |
|
Elevated circulating alpha-fetoprotein concentration, Hypoalbuminemia, Hyperbilirubinemia |
OMIM:251880 |
Mitochondrial Trifunctional Protein Deficiency 1 |
|
Respiratory failure, Respiratory insufficiency |
OMIM:609015 |
Bardet-Biedl Syndrome |
|
Cryptorchidism, Hypoplasia of penis, Hypoplasia of the ovary, Hypogonadism |
ORPHA:110 |
Fumarase Deficiency |
|
Reduced subcutaneous adipose tissue, High palate, Hyperbilirubinemia |
OMIM:606812 |
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young |
|
Rickets, Large for gestational age |
OMIM:616026 |
Hemophagocytic Lymphohistiocytosis, Familial, 2 |
|
Hyponatremia, Hypertriglyceridemia, Increased circulating ferritin concentration, Hypoalbuminemia... |
OMIM:603553 |
Schwartz-Jampel Syndrome |
|
Hip contracture, Increased bone mineral density, Abnormally ossified vertebrae, Inguinal hernia, ... |
ORPHA:800 |
Hypocalciuric Hypercalcemia, Familial, Type Iii |
|
Multiple lipomas, Osteomalacia, Chondrocalcinosis |
OMIM:600740 |
Chronic Bilirubin Encephalopathy |
|
Hypernatremia, Hypoalbuminemia, Neonatal hyperbilirubinemia |
ORPHA:529808 |
Acute Bilirubin Encephalopathy |
|
Hypernatremia, Hypoalbuminemia, Neonatal hyperbilirubinemia |
ORPHA:529799 |
Fructose-1,6-Bisphosphatase Deficiency |
|
Respiratory distress, Intermittent hyperventilation, Episodic tachypnea, Dyspnea, Apneic episodes... |
ORPHA:348 |
Double Outlet Right Ventricle |
|
Cyanosis, Tachypnea |
ORPHA:3426 |
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures |
|
Cyanosis, Apnea |
OMIM:619580 |
Hereditary Bullous Dystrophy, Macular Type |
|
Acrocyanosis, Pneumonia |
ORPHA:1867 |
Mirizzi Syndrome |
|
Cholesterol gallstones, Hyperbilirubinemia, Cholelithiasis, Abnormal ductus choledochus morpholog... |
ORPHA:521219 |
Glycogen Storage Disease Xii |
|
Cholelithiasis, Reduced haptoglobin level, Elevated circulating creatine kinase concentration, Hy... |
OMIM:611881 |
Cystinosis |
|
Failure to thrive, Rickets |
ORPHA:213 |
Overhydrated Hereditary Stomatocytosis |
|
Hyperbilirubinemia |
OMIM:185000 |
Eosinophilic Granulomatosis With Polyangiitis |
|
Sinusitis, Cutis marmorata, Asthma, Respiratory insufficiency, Urticaria, Cough, Acrocyanosis, Pu... |
ORPHA:183 |
Dravet Syndrome |
|
Cyanotic episode |
ORPHA:33069 |
Severe Congenital Nemaline Myopathy |
|
Respiratory failure |
ORPHA:171430 |
Fraser-Like Syndrome |
|
Ovarian cyst, Contracture of the proximal interphalangeal joint of the 2nd finger |
OMIM:229230 |
Combined Oxidative Phosphorylation Deficiency 3 |
|
Death in infancy, Dyspnea, Respiratory insufficiency, Respiratory failure, Death in childhood |
OMIM:610505 |
Wilson Disease |
|
Hypoparathyroidism, Decreased circulating ceruloplasmin concentration, Hypouricemia, Hypoalbumine... |
OMIM:277900 |
Pitt-Hopkins-Like Syndrome 2 |
|
Hyperventilation |
OMIM:614325 |
Glycine Encephalopathy With Normal Serum Glycine |
|
Respiratory failure, Apnea |
OMIM:617301 |
Desmosterolosis |
|
Generalized osteosclerosis, Failure to thrive, Joint contracture of the hand, Arthrogryposis mult... |
OMIM:602398 |
Erdheim-Chester Disease |
|
Increased bone mineral density, Osteomyelitis, Osteolysis, Weight loss |
ORPHA:35687 |
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy |
|
Conjugated hyperbilirubinemia, Decreased serum zinc, Hypoalbuminemia, Hyperammonemia |
OMIM:617093 |
Fibrous Dysplasia Of Bone |
|
Thin bony cortex, Cortical irregularity, Osteomalacia, Fibrous dysplasia of the bones, Rickets, O... |
ORPHA:249 |
Lethal Acantholytic Erosive Disorder |
|
Respiratory failure, Fragile skin |
ORPHA:158687 |
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome |
|
Acrocyanosis |
OMIM:614407 |
Pancreatic Triacylglycerol Lipase Deficiency |
|
Weight loss, Osteoporosis, Osteomalacia, Rickets |
ORPHA:309031 |
Raine Syndrome |
|
Arthrogryposis multiplex congenita, Increased bone mineral density, Enamel hypoplasia, Subperiost... |
OMIM:259775 |
Adult-Onset Cervical Dystonia, Dyt23 Type |
|
Hyperventilation |
ORPHA:420492 |
Hyperimmunoglobulinemia D With Periodic Fever |
|
Urticaria, Erythema, Acrocyanosis, Purpura |
ORPHA:343 |
Hereditary Spherocytosis |
|
Cholelithiasis, Hyperbilirubinemia |
ORPHA:822 |
3-Methylglutaconic Aciduria Type 7 |
|
Respiratory failure, Pneumothorax |
ORPHA:445038 |
Pseudohypoparathyroidism Type 1A |
|
Increased bone mineral density, Obesity, Reduced bone mineral density, Hyperostosis frontalis int... |
ORPHA:79443 |
Pseudohypoparathyroidism Type 1C |
|
Ectopic ossification, Increased bone mineral density, Enamel hypoplasia, Obesity |
ORPHA:79444 |
Pelizaeus-Merzbacher Disease, Connatal Form |
|
Respiratory failure |
ORPHA:280210 |
Autosomal Dominant Nocturnal Frontal Lobe Epilepsy |
|
Hyperventilation |
ORPHA:98784 |
Meckel Syndrome 14 |
|
Pneumothorax, Cyanosis, Cardiorespiratory arrest |
OMIM:619879 |
Holocarboxylase Synthetase Deficiency |
|
Tachypnea, Hyperventilation |
OMIM:253270 |
Arterial Tortuosity Syndrome |
|
Respiratory distress, Telangiectasia of the skin, Prematurely aged appearance, Dyspnea, Cardiores... |
ORPHA:3342 |
Brain-Lung-Thyroid Syndrome |
|
Respiratory distress, Neonatal respiratory distress, Asthma, Recurrent pneumonia, Respiratory fai... |
ORPHA:209905 |
Cowden Syndrome 5 |
|
Micrognathia, Hypoplasia of the maxilla, Furrowed tongue, Hydrocele testis, Ovarian cyst, High pa... |
OMIM:615108 |
Fanconi-Bickel Syndrome |
|
Osteopenia, Failure to thrive, Rickets |
ORPHA:2088 |
Eosinophilic Fasciitis |
|
Acrocyanosis |
ORPHA:3165 |
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome |
|
Thin upper lip vermilion, Natal tooth, Absent nipple, Aplasia of the thymus, Micrognathia, Cariou... |
OMIM:620186 |
Abetalipoproteinemia |
|
Decreased HDL cholesterol concentration, Decreased LDL cholesterol concentration, Hypoalbuminemia... |
ORPHA:14 |
Aromatase Deficiency |
|
Ovarian cyst, Hypergonadotropic hypogonadism, Female pseudohermaphroditism |
OMIM:613546 |
Mitochondrial Complex I Deficiency, Nuclear Type 1 |
|
Death in infancy, Cyanosis, Apnea, Respiratory insufficiency, Respiratory failure |
OMIM:252010 |
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome |
|
Respiratory failure |
ORPHA:3240 |
Cowden Syndrome 6 |
|
Micrognathia, Hypoplasia of the maxilla, Furrowed tongue, Hydrocele testis, Ovarian cyst, High pa... |
OMIM:615109 |
Donohue Syndrome |
|
Precocious puberty, Adipose tissue loss, Long penis, Thick lower lip vermilion, Gingival overgrow... |
OMIM:246200 |
Infantile Krabbe Disease |
|
Respiratory distress, Respiratory failure |
ORPHA:206436 |
Fallot Complex-Intellectual Disability-Growth Delay Syndrome |
|
Cyanosis |
ORPHA:3304 |
Childhood Absence Epilepsy |
|
Hyperventilation |
ORPHA:64280 |
Celiac Disease, Susceptibility To, 1 |
|
Osteoporosis, Rickets, Weight loss, Enamel hypoplasia, Failure to thrive |
OMIM:212750 |
Geleophysic Dysplasia 3 |
|
Dyspnea, Respiratory failure, Pneumonia |
OMIM:617809 |
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities |
|
Respiratory failure |
OMIM:620327 |
Rh Deficiency Syndrome |
|
Reduced haptoglobin level, Hyperbilirubinemia |
ORPHA:71275 |
Absence Of The Pulmonary Artery |
|
Orthopnea, Cyanosis, Dyspnea, Nonproductive cough, Recurrent pneumonia, Bronchiectasis, Hypocapni... |
ORPHA:980 |
Acquired Purpura Fulminans |
|
Acrocyanosis, Macular purpura |
ORPHA:49566 |
Ethylene Glycol Poisoning |
|
Cyanosis, Tachypnea, Episodic respiratory distress, Abnormal pattern of respiration |
ORPHA:31826 |
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia |
|
Hypogonadotropic hypogonadism, Abnormal spermatogenesis, Azoospermia, Ovarian cyst, Elevated circ... |
OMIM:228300 |
Mitochondrial Trifunctional Protein Deficiency |
|
Respiratory failure, Respiratory insufficiency |
ORPHA:746 |
Esophageal Atresia |
|
Respiratory distress, Cyanosis, Episodic respiratory distress, Chronic pulmonary obstruction, Res... |
ORPHA:1199 |
Malignant Atrophic Papulosis |
|
Pleural effusion, Telangiectasia of the skin, Respiratory failure |
ORPHA:679 |
Gaucher Disease |
|
Osteopenia, Increased bone mineral density, Osteomyelitis, Recurrent fractures, Joint stiffness, ... |
ORPHA:355 |
Anemia, Congenital Dyserythropoietic, Type Ia |
|
Hyperbilirubinemia |
OMIM:224120 |
Combined Oxidative Phosphorylation Deficiency 37 |
|
Respiratory failure, Respiratory insufficiency |
OMIM:618329 |
Telangiectasia, Hereditary Hemorrhagic, Type 1 |
|
Conjunctival telangiectasia, Spontaneous, recurrent epistaxis, Cyanosis, Telangiectasia of the sk... |
OMIM:187300 |
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency |
|
Decreased glucose-6-phosphate dehydrogenase level in blood, Unconjugated hyperbilirubinemia |
OMIM:300908 |
Atypical Werner Syndrome |
|
Sclerosis of hand bone, Increased bone mineral density, Lipoatrophy, Limitation of joint mobility... |
ORPHA:79474 |
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome |
|
Respiratory failure requiring assisted ventilation, Respiratory failure, Recurrent pneumonia |
ORPHA:496641 |
Lissencephaly Due To Lis1 Mutation |
|
Neonatal hyperbilirubinemia |
ORPHA:95232 |
Congenital Tracheal Stenosis |
|
Respiratory distress, Cyanosis, Neonatal asphyxia, Wheezing, Dyspnea, Upper airway obstruction |
ORPHA:141127 |
X-Linked Intellectual Disability, Nascimento Type |
|
Hypospadias, Cryptorchidism, Deep philtrum, Downturned corners of mouth, Wide mouth, Thin vermili... |
ORPHA:163956 |
Pitt-Hopkins-Like Syndrome 1 |
|
Hyperventilation |
OMIM:610042 |
Hyperoxaluria, Primary, Type I |
|
Pathologic fracture, Increased bone mineral density |
OMIM:259900 |
Mitochondrial Complex I Deficiency, Nuclear Type 32 |
|
Respiratory failure, Death in childhood |
OMIM:618252 |
Rett Syndrome |
|
Apnea, Intermittent hyperventilation |
OMIM:312750 |
S-Adenosylhomocysteine Hydrolase Deficiency |
|
Respiratory failure |
ORPHA:88618 |
Gaucher Disease Type 3 |
|
Increased bone mineral density, Osteolysis, Increased susceptibility to fractures |
ORPHA:77261 |
Alg9-Cdg |
|
Omphalocele, Microretrognathia, Thin upper lip vermilion, Lipodystrophy, Micrognathia, Wide mouth... |
ORPHA:79328 |
Degcags Syndrome |
|
Hypospadias, Hiatus hernia, Protruding tongue, Cryptorchidism, Micrognathia, Wide mouth, Chordee,... |
OMIM:619488 |
Parenteral Nutrition-Associated Cholestasis |
|
Biliary hyperplasia, Conjugated hyperbilirubinemia, Hyperlipidemia, Abnormal circulating fatty-ac... |
ORPHA:567983 |
Aicardi-Goutieres Syndrome 1 |
|
Erythema, Prolonged neonatal jaundice, Acrocyanosis, Petechiae, Purpura |
OMIM:225750 |
Neu-Laxova Syndrome |
|
Osteopenia, Osteomalacia, Flexion contracture, Osteoporosis, Rickets, Arthrogryposis multiplex co... |
ORPHA:2671 |
Autoimmune Hepatitis |
|
Increased total bilirubin |
ORPHA:2137 |
Developmental Delay, Impaired Speech, And Behavioral Abnormalities |
|
Bifid scrotum, Thin upper lip vermilion, Hypospadias, High, narrow palate, Short uvula, Broad phi... |
OMIM:619475 |
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome |
|
Enlarged polycystic ovaries, Elevated circulating growth hormone concentration, Polycystic ovaries |
ORPHA:90301 |
Sanjad-Sakati Syndrome |
|
Abnormal dental enamel morphology, Patchy osteosclerosis |
ORPHA:2323 |
Hypoparathyroidism-Retardation-Dysmorphism Syndrome |
|
Patchy osteosclerosis |
OMIM:241410 |
Dent Disease |
|
Recurrent fractures, Osteomalacia, Delayed epiphyseal ossification, Rickets, Sparse bone trabecul... |
ORPHA:1652 |
Cowden Syndrome 1 |
|
Micrognathia, Hypoplasia of the maxilla, Furrowed tongue, Hydrocele testis, Ovarian cyst, High pa... |
OMIM:158350 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9 |
|
Respiratory failure |
OMIM:616538 |
Congenital Fiber-Type Disproportion Myopathy |
|
Hypercapnia, Respiratory insufficiency due to muscle weakness, Hypoxemia, Respiratory failure, As... |
ORPHA:2020 |
Woodhouse-Sakati Syndrome |
|
Streak ovary, Hypoplasia of the fallopian tube, Decreased response to growth hormone stimulation ... |
ORPHA:3464 |
Bickerstaff Brainstem Encephalitis |
|
Respiratory failure requiring assisted ventilation, Pneumonia, Hypercapnia, Dyspnea, Respiratory ... |
ORPHA:79138 |
Genitourinary And/Or Brain Malformation Syndrome |
|
Omphalocele, Streak ovary, Hypospadias, Micrognathia, Cryptorchidism, Uterus didelphys, Gonadal d... |
OMIM:618820 |
Telangiectasia, Hereditary Hemorrhagic, Type 4 |
|
Conjunctival telangiectasia, Spontaneous, recurrent epistaxis, Cyanosis, Dyspnea, Lip telangiecta... |
OMIM:610655 |
Mccune-Albright Syndrome |
|
Recurrent fractures, Osteomalacia, Fibrous dysplasia of the bones, Polyostotic fibrous dysplasia,... |
ORPHA:562 |
Myasthenia Gravis |
|
Dyspnea, Acrocyanosis |
ORPHA:589 |
Blomstrand Lethal Chondrodysplasia |
|
Increased bone mineral density, Synostosis of joints |
ORPHA:50945 |
Poliomyelitis |
|
Respiratory failure requiring assisted ventilation, Respiratory failure |
ORPHA:2912 |
Hyperekplexia 1 |
|
Aspiration, Apnea |
OMIM:149400 |
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies |
|
Cleft soft palate, Flexion contracture, Downturned corners of mouth, Hypoplasia of the ovary, Azo... |
OMIM:619321 |
Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Respiratory distress, Pleural effusion, Cyanosis, Apnea |
OMIM:261740 |
Congenital Erythropoietic Porphyria |
|
Erythrodontia, Scarring, Increased connective tissue, Scarring alopecia of scalp, Abnormal circul... |
ORPHA:79277 |
Nocardiosis |
|
Respiratory distress, Pneumonia, Productive cough, Nonproductive cough, Dyspnea, Pneumothorax, Pl... |
ORPHA:31204 |
Hemorrhagic Fever-Renal Syndrome |
|
Respiratory distress, Pneumonia, Epistaxis, Dyspnea, Respiratory failure, Cough, Ecchymosis, Pleu... |
ORPHA:340 |
Occipital Horn Syndrome |
|
Osteopenia, Inguinal hernia, Femoral hernia, Osteomalacia, Scarring, Hiatus hernia, Osteoporosis,... |
ORPHA:198 |
Leigh Syndrome |
|
Respiratory failure, Abnormal pattern of respiration |
ORPHA:506 |
Liver Disease, Severe Congenital |
|
Hyperalaninemia, Hyponatremia, Inguinal hernia, Hypospadias, Elevated circulating alpha-fetoprote... |
OMIM:619991 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 10 |
|
Hyperventilation |
OMIM:618775 |
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Respiratory failure, Tachypnea, Respiratory insufficiency, Death in childhood |
OMIM:618278 |
Biotinidase Deficiency |
|
Respiratory distress, Apnea, Hyperventilation |
ORPHA:79241 |
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome |
|
Cyanosis |
ORPHA:488627 |
Bloom Syndrome |
|
Pneumonia, Chronic pulmonary obstruction, Telangiectasia, Respiratory failure, Rhinitis, Cutaneou... |
ORPHA:125 |
Double Outlet Left Ventricle |
|
Cyanosis, Tachypnea |
ORPHA:3427 |
Caroli Syndrome |
|
Conjugated hyperbilirubinemia, Abnormal ductus choledochus morphology, Hyperbilirubinemia |
ORPHA:480520 |
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency |
|
Bifid scrotum, Hypospadias, Precocious puberty in females, Elevated circulating luteinizing hormo... |
ORPHA:90793 |
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome |
|
Hip contracture, Hyperbilirubinemia |
ORPHA:464321 |
Cleidocranial Dysplasia 1 |
|
Increased bone mineral density, Delayed pubic bone ossification, Enamel hypoplasia, Increased sus... |
OMIM:119600 |
Isolated Biliary Atresia |
|
Atretic gallbladder, Hypopituitarism, Bile duct proliferation, Conjugated hyperbilirubinemia |
ORPHA:30391 |
Pitt-Hopkins Syndrome |
|
Acrocyanosis, Abnormal pattern of respiration, Hyperventilation |
ORPHA:2896 |
Functioning Gonadotropic Adenoma |
|
Macroorchidism, postpubertal, Decreased response to growth hormone stimulation test, Isosexual pr... |
ORPHA:91348 |
Glycogen Storage Disease Due To Acid Maltase Deficiency |
|
Respiratory distress, Orthopnea, Respiratory insufficiency due to muscle weakness, Respiratory in... |
ORPHA:365 |
Structural Heart Defects And Renal Anomalies Syndrome |
|
Death in infancy, Cyanosis |
OMIM:617478 |
Developmental And Epileptic Encephalopathy 2 |
|
Hyperventilation |
OMIM:300672 |
Joubert Syndrome 21 |
|
Dyspnea, Respiratory failure, Chronic sinusitis, Apnea |
OMIM:615636 |
Primary Biliary Cholangitis |
|
Conjugated hyperbilirubinemia, Abnormal circulating lipid concentration, Hypoalbuminemia |
ORPHA:186 |
Hardikar Syndrome |
|
Cleft soft palate, Bilateral cleft lip and palate, Bile duct proliferation, Unilateral cleft lip,... |
OMIM:301068 |
Distal Renal Tubular Acidosis |
|
Osteomalacia, Rickets, Increased susceptibility to fractures, Reduced bone mineral density, Failu... |
ORPHA:18 |
Listeriosis |
|
Respiratory distress, Miscarriage, Pneumonia, Jaundice, Respiratory failure |
ORPHA:533 |
Caroli Disease |
|
Conjugated hyperbilirubinemia, Cholelithiasis, Abnormal circulating alpha-fetoprotein concentration |
ORPHA:53035 |
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome |
|
Abnormal ductus choledochus morphology, Hyperbilirubinemia |
ORPHA:562639 |
Encephalitis Lethargica |
|
Hyperventilation |
ORPHA:83600 |
Telangiectasia, Hereditary Hemorrhagic, Type 2 |
|
Conjunctival telangiectasia, Spontaneous, recurrent epistaxis, Cyanosis, Nail bed telangiectasia,... |
OMIM:600376 |
Pearson Marrow-Pancreas Syndrome |
|
Pancreatic fibrosis, Hyperbilirubinemia |
OMIM:557000 |
Microcephalic Osteodysplastic Primordial Dwarfism, Type I |
|
Hip contracture, Shoulder flexion contracture, Micrognathia, Cryptorchidism, Flexion contracture,... |
OMIM:210710 |
Primary Hyperoxaluria |
|
Generalized osteosclerosis, Failure to thrive, Recurrent fractures |
ORPHA:416 |
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects |
|
Conjugated hyperbilirubinemia, Hyperkalemia |
OMIM:608885 |
Enamel-Renal Syndrome |
|
Delayed eruption of teeth, Abnormality of dental color, Abnormal dental enamel morphology, Gingiv... |
ORPHA:1031 |
Neurooculorenal Syndrome |
|
Ectopic posterior pituitary, Micrognathia, Conjugated hyperbilirubinemia, Cryptorchidism, Broad p... |
OMIM:620305 |
Goodpasture Syndrome |
|
Cyanosis, Crackles, Increased DLCO, Tachypnea, Restrictive ventilatory defect, Cough, Exertional ... |
OMIM:233450 |
Rajab Interstitial Lung Disease With Brain Calcifications 1 |
|
Inguinal hernia, Small scrotum, Hypoalbuminemia, Bile duct proliferation, Hypocalcemia, Unconjuga... |
OMIM:613658 |
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion |
|
Respiratory failure |
ORPHA:254528 |
Unilateral Polymicrogyria |
|
Cyanosis, Apnea, Epistaxis |
ORPHA:268943 |
Kallmann Syndrome-Heart Disease Syndrome |
|
Cyanosis |
ORPHA:2326 |
Orofaciodigital Syndrome I |
|
Microretrognathia, Median cleft lip, Hamartoma of tongue, Cleft upper lip, Pancreatic cysts, Cari... |
OMIM:311200 |
Familial Hypocalciuric Hypercalcemia |
|
Lipoma, Osteomalacia, Chondrocalcinosis |
ORPHA:405 |
Reynolds Syndrome |
|
Calcinosis, Lip telangiectasia, Hyperbilirubinemia |
OMIM:613471 |
Cocaine Intoxication |
|
Respiratory distress, Wheezing, Tachypnea, Pneumothorax, Cough, Hyperventilation |
ORPHA:90068 |
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly |
|
Pancreatic fibrosis, Bile duct proliferation, Conjugated hyperbilirubinemia, Pancreatic cysts |
OMIM:208500 |
Tarp Syndrome |
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Cyanosis, Apnea |
ORPHA:2886 |
Histiocytoid Cardiomyopathy |
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Cyanosis, Tachypnea, Cough |
ORPHA:137675 |
Mitochondrial Dna-Associated Leigh Syndrome |
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Dyspnea, Episodic respiratory distress, Apnea, Hyperventilation |
ORPHA:255210 |
Shiga Toxin-Associated Hemolytic Uremic Syndrome |
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Hyponatremia, Hypokalemia, Elevated circulating creatinine concentration, Unconjugated hyperbilir... |
ORPHA:90038 |
Fucosidosis |
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Acrocyanosis, Vascular skin abnormality |
ORPHA:349 |
Neuropathy, Hereditary Sensory And Autonomic, Type Iii |
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Decreased sensitivity to hypoxemia, Acrocyanosis |
OMIM:223900 |
Lipodystrophy, Congenital Generalized, Type 1 |
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Reduced subcutaneous adipose tissue, Mandibular prognathia, Hypertriglyceridemia, Lipodystrophy, ... |
OMIM:608594 |
Schinzel-Giedion Syndrome |
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Delayed eruption of teeth, Inguinal hernia, Streak ovary, Hypospadias, Micrognathia, Abnormality ... |
ORPHA:798 |
Osteopetrosis, Autosomal Recessive 7 |
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Abnormal trabecular bone morphology, Osteopetrosis |
OMIM:612301 |
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta |
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Pulmonary arterial hypertension, Cyanosis, Exertional dyspnea |
ORPHA:99050 |
Severe Generalized Junctional Epidermolysis Bullosa |
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Respiratory distress, Pneumonia, Dyspnea, Pneumothorax, Stridor, Respiratory failure, Fragile skin |
ORPHA:79404 |
Cntnap2-Related Developmental And Epileptic Encephalopathy |
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Intermittent hyperventilation |
ORPHA:163681 |
Aortic Arch Interruption |
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Respiratory distress, Cyanosis, Tachypnea, Exertional dyspnea |
ORPHA:2299 |
Fructose Intolerance, Hereditary |
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Bicarbonaturia, Hyperuricemia, Hyperbilirubinemia, Hypophosphatemia |
OMIM:229600 |
Lipodystrophy, Congenital Generalized, Type 2 |
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Reduced subcutaneous adipose tissue, Mandibular prognathia, Hypertriglyceridemia, Lipodystrophy, ... |
OMIM:269700 |
Cardiac Valvular Dysplasia 2 |
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Central cyanosis |
OMIM:620067 |
Neurodevelopmental Disorder With Seizures, Hypotonia, And Brain Imaging Abnormalities |
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Aspiration, Neonatal respiratory distress, Death in infancy |
OMIM:618922 |
Intellectual Developmental Disorder, Autosomal Dominant 54 |
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Apnea, Hyperventilation |
OMIM:617799 |
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency |
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Fused labia majora, Adrenal hyperplasia, High, narrow palate, Flexion contracture, Abnormal ovari... |
ORPHA:95699 |
Congenital Factor Vii Deficiency |
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Ovarian cyst, Gingival bleeding |
ORPHA:327 |
Nijmegen Breakage Syndrome |
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Respiratory failure, Cutaneous photosensitivity, Recurrent pneumonia |
ORPHA:647 |
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome |
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Central apnea, Hyperventilation |
ORPHA:522077 |
Ear-Patella-Short Stature Syndrome |
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Respiratory distress, Dyspnea, Respiratory failure |
ORPHA:2554 |
Hereditary Cryohydrocytosis With Reduced Stomatin |
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Conjugated hyperbilirubinemia |
ORPHA:168577 |
Neuropathy, Hereditary Sensory And Autonomic, Type Vi |
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Neonatal respiratory distress, Apnea, Erythema, Stridor, Aspiration |
OMIM:614653 |
Sclerosteosis 1 |
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Facial palsy secondary to cranial hyperostosis, Cortically dense long tubular bones, Sclerotic sc... |
OMIM:269500 |
Lowe Oculocerebrorenal Syndrome |
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Failure to thrive, Camptodactyly of finger, Osteomalacia, Rickets, Corneal scarring, Keloids, Pat... |
OMIM:309000 |
Intellectual Developmental Disorder, Autosomal Dominant 57 |
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Hyperventilation |
OMIM:618050 |
Tay-Sachs Disease |
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Aspiration |
OMIM:272800 |
Johanson-Blizzard Syndrome |
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Hypospadias, Urethrovaginal fistula, Septate vagina, Conjugated hyperbilirubinemia, Cryptorchidis... |
OMIM:243800 |
Intellectual Developmental Disorder With Microcephaly And Pontine And Cerebellar Hypoplasia |
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Intermittent hyperventilation |
OMIM:300749 |
Amyotrophic Lateral Sclerosis 21 |
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Respiratory insufficiency due to muscle weakness, Aspiration |
OMIM:606070 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2 |
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Death in infancy, Respiratory failure |
OMIM:300868 |
Infantile Nephropathic Cystinosis |
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Failure to thrive, Rickets |
ORPHA:411629 |
Acute Liver Failure |
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Jaundice, Abnormal respiratory system physiology, Hypocapnia, Bruising susceptibility, Abnormal p... |
ORPHA:90062 |
Congenital Disorder Of Glycosylation, Type Im |
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Aspiration, Death in infancy |
OMIM:610768 |
Williams Syndrome |
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Osteopenia, Joint laxity, Increased bone mineral density, Inguinal hernia, Failure to thrive in i... |
ORPHA:904 |
Ovarian Hyperstimulation Syndrome |
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Enlarged polycystic ovaries, Ovarian cyst, Increased circulating gonadotropin level, Hemorrhagic ... |
ORPHA:64739 |
Heterotaxy, Visceral, 7, Autosomal |
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Cyanosis |
OMIM:616749 |
Pitt-Hopkins Syndrome |
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Intermittent hyperventilation |
OMIM:610954 |
Senior-Boichis Syndrome |
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Increased total bilirubin |
ORPHA:84081 |
Primary Fanconi Renotubular Syndrome |
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Hypophosphatemic rickets, Weight loss, Osteomalacia, Increased susceptibility to fractures |
ORPHA:3337 |
Biliary, Renal, Neurologic, And Skeletal Syndrome |
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Inguinal hernia, Anterior pituitary hypoplasia, Conjugated hyperbilirubinemia, Increased circulat... |
OMIM:619534 |
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus |
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Streak ovary, Hypergonadotropic hypogonadism, Elevated circulating luteinizing hormone level, Pol... |
ORPHA:572333 |
Fraser Syndrome 2 |
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Respiratory failure |
OMIM:617666 |
Autosomal Recessive Malignant Osteopetrosis |
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Osteopetrosis, Recurrent fractures, Craniosynostosis, Reduced bone mineral density |
ORPHA:667 |
Microphthalmia With Linear Skin Defects Syndrome |
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Respiratory distress, Dyspnea, Respiratory failure, Erythema |
ORPHA:2556 |
Oculopharyngodistal Myopathy 1 |
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Respiratory distress, Hypercapnia, Reduced forced vital capacity, Respiratory insufficiency due t... |
OMIM:164310 |
Dermatomyositis |
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Telangiectasia of the skin, Erythema, Respiratory insufficiency, Acrocyanosis, Pulmonary arterial... |
ORPHA:221 |
Eisenmenger Syndrome |
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Respiratory distress, Cyanosis, Increased pulmonary vascular resistance, Wheezing, Hypoxemia, Pul... |
ORPHA:97214 |
Tuberous Sclerosis Complex |
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Respiratory distress, Respiratory failure, Generalized abnormality of skin |
ORPHA:805 |
Yellow Fever |
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Pancreatic hyperplasia, Elevated circulating creatinine concentration, Elevated circulating creat... |
ORPHA:99829 |
Niemann-Pick Disease Type C |
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Jaundice, Respiratory failure, Respiratory insufficiency, Aspiration pneumonia |
ORPHA:646 |
Myhre Syndrome |
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Respiratory failure, Respiratory insufficiency |
OMIM:139210 |
Oculocerebrorenal Syndrome Of Lowe |
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Inguinal hernia, Recurrent fractures, Osteomalacia, Joint stiffness, Abnormal dental enamel morph... |
ORPHA:534 |
Familial Adenomatous Polyposis 4 |
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Ovarian cyst, Uterine leiomyoma |
OMIM:617100 |
Paroxysmal Nocturnal Hemoglobinuria |
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Unconjugated hyperbilirubinemia, Reduced haptoglobin level, Decreased serum iron, Increased blood... |
ORPHA:447 |
Heterotaxy, Visceral, 1, X-Linked |
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Respiratory distress, Cyanosis |
OMIM:306955 |
Steinert Myotonic Dystrophy |
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Respiratory insufficiency due to muscle weakness, Respiratory failure requiring assisted ventilat... |
ORPHA:273 |
Hutchinson-Gilford Progeria Syndrome |
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Prominent superficial blood vessels, Cyanosis, Upper airway obstruction, Pulmonary arterial hyper... |
ORPHA:740 |
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14 |
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Pulmonary arterial hypertension, Respiratory failure, Miscarriage, Restrictive ventilatory defect |
ORPHA:96334 |
Costello Syndrome |
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Tracheomalacia, Respiratory failure, Pneumothorax, Respiratory insufficiency |
OMIM:218040 |
Osteopetrosis With Renal Tubular Acidosis |
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Osteopetrosis, Failure to thrive, Recurrent fractures |
ORPHA:2785 |
Schinzel-Giedion Midface Retraction Syndrome |
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Sclerosis of skull base, Failure to thrive, Increased density of long bones, Thickened cortex of ... |
OMIM:269150 |
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii |
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Osteopenia, Abnormally ossified vertebrae, Osteomalacia, Osteoporosis, Rickets |
ORPHA:2636 |
Aplasia Of Lacrimal And Salivary Glands |
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Carious teeth, Lacrimal gland hypoplasia, Lacrimal gland aplasia |
OMIM:180920 |
Congenital Total Pulmonary Venous Return Anomaly |
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Respiratory distress, Respiratory failure requiring assisted ventilation, Cyanosis, Paroxysmal dy... |
ORPHA:99125 |
Familial Dysautonomia |
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Acrocyanosis |
ORPHA:1764 |
Carney Complex |
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Leydig cell neoplasia, Ovarian serous cystadenoma, Precocious puberty, Ovarian cyst, Abnormal mor... |
ORPHA:1359 |
Cystinosis, Nephropathic |
|
Hypophosphatemic rickets, Rickets, Failure to thrive in infancy, Weight loss |
OMIM:219800 |
Postinfectious Vasculitis |
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Palpable purpura, Cutis marmorata, Pneumonia, Vasculitis in the skin, Acrocyanosis |
ORPHA:48435 |
Truncus Arteriosus |
|
Cyanosis, Tachypnea |
ORPHA:3384 |
Otopalatodigital Syndrome, Type Ii |
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Respiratory failure, Stillbirth, Respiratory insufficiency |
OMIM:304120 |
Immunodeficiency 82 With Systemic Inflammation |
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Arthritis, Osteomyelitis, Osteomalacia, Weight loss |
OMIM:619381 |
Ulbright-Hodes Syndrome |
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Respiratory distress, Respiratory failure, Pneumothorax |
ORPHA:3404 |
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome |
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Respiratory failure, Emphysema |
ORPHA:500150 |
Aicardi-Goutières Syndrome |
|
Acrocyanosis, Cutis marmorata, Prolonged neonatal jaundice |
ORPHA:51 |
Cardiac Valvular Dysplasia 1 |
|
Cyanosis |
OMIM:212093 |
Classical Ehlers-Danlos Syndrome |
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Prematurely aged appearance, Poor wound healing, Ecchymosis, Acrocyanosis, Fragile skin, Bruising... |
ORPHA:287 |
Generalized Arterial Calcification Of Infancy |
|
Respiratory distress, Pulmonary arterial hypertension, Cyanosis |
ORPHA:51608 |
Congenitally Corrected Transposition Of The Great Arteries |
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Cyanosis |
ORPHA:216694 |
Hypermobile Ehlers-Danlos Syndrome |
|
Acrocyanosis, Apnea |
ORPHA:285 |
Coffin-Lowry Syndrome |
|
Acrocyanosis, Cutis marmorata |
OMIM:303600 |
Pallister-Killian Syndrome |
|
Stillbirth, Apneic episodes in infancy, Hyperventilation |
OMIM:601803 |