Granulomas, Congenital Cerebral |
|
Neonatal death |
OMIM:306300 |
Genitourinary Tract Anomalies |
|
Neonatal death |
OMIM:305690 |
Emphysema, Congenital Lobar |
|
Respiratory distress |
OMIM:130710 |
Osteochondrosis Of The Metatarsal Bone |
|
Flattened metatarsal heads, Abnormality of the fifth metatarsal bone, Sclerosis of foot bone, Abn... |
ORPHA:564003 |
Hypomyelination Neuropathy-Arthrogryposis Syndrome |
|
Respiratory distress |
ORPHA:2680 |
Lethal Congenital Contracture Syndrome 3 |
|
Neonatal death, Respiratory insufficiency |
OMIM:611369 |
Osteogenesis Imperfecta, Type Viii |
|
Osteopenia, Joint laxity, Short metacarpal, Radial bowing, Wormian bones, Recurrent fractures, Fe... |
OMIM:610915 |
Mazabraud Syndrome |
|
Fibrous dysplasia of the bones, Bone pain, Recurrent fractures |
ORPHA:57782 |
Congenital Lobar Emphysema |
|
Respiratory distress, Emphysema |
ORPHA:1928 |
Muscular Hypertonia, Lethal |
|
Respiratory distress, Death in infancy, Pneumonia |
OMIM:254120 |
Eiken Syndrome |
|
Short palm, Abnormal trabecular bone morphology, Epiphyseal dysplasia, Abnormal acetabulum morpho... |
ORPHA:79106 |
Melorheostosis With Osteopoikilosis |
|
Hypertension, Osteopoikilosis, Abnormal cortical bone morphology, Complete duplication of the dis... |
ORPHA:1879 |
Succinic Acidemia |
|
Respiratory distress |
OMIM:600335 |
Ehlers-Danlos Syndrome, Arthrochalasia Type, 1 |
|
Osteopenia, Joint laxity, Hallux valgus, Contracture of the proximal interphalangeal joint of the... |
OMIM:130060 |
Osteoporosis, Childhood- Or Juvenile-Onset, With Developmental Delay |
|
Osteopenia, Inability to walk, Broad-based gait, Recurrent fractures |
OMIM:619884 |
Gnathodiaphyseal Dysplasia |
|
Osteopenia, Bowing of the long bones, Recurrent fractures, Mandibular osteomyelitis, Thickened co... |
ORPHA:53697 |
Hereditary Sensory And Autonomic Neuropathy Type 2 |
|
Abnormality of the knee, Tapered finger, Osteolysis, Foot acroosteolysis, Reduced bone mineral de... |
ORPHA:970 |
Osteogenesis Imperfecta, Type Xxii |
|
Bowing of the long bones, Short stature, Recurrent fractures, Multiple prenatal fractures, Abnorm... |
OMIM:619795 |
Sclerosteosis |
|
Craniofacial hyperostosis, Increased bone mineral density, Finger syndactyly, 2-3 finger syndacty... |
ORPHA:3152 |
Wormian Bone-Multiple Fractures-Dentinogenesis Imperfecta-Skeletal Dysplasia |
|
Short stature, Limitation of joint mobility, Upper limb undergrowth, Short foot, Toe clinodactyly... |
ORPHA:166277 |
Hyperostosis Corticalis Generalisata |
|
Generalized osteosclerosis, Abnormal cortical bone morphology, Cranial hyperostosis, Diaphyseal t... |
ORPHA:3416 |
Ghosal Hematodiaphyseal Dysplasia |
|
Craniofacial hyperostosis, Bowing of the long bones, Splenomegaly, Abnormal tibia morphology, Abn... |
ORPHA:1802 |
Osteoporosis-Pseudoglioma Syndrome |
|
Osteopenia, Joint laxity, Crumpled long bones, Waddling gait, Short stature, Isosexual precocious... |
ORPHA:2788 |
Grant Syndrome |
|
Joint dislocation, Bowing of the long bones, Short stature, Large fontanelles, Decreased skull os... |
ORPHA:2097 |
Monosomy 5P |
|
Finger syndactyly, Short stature, Recurrent fractures, Small hand, Joint hyperflexibility, Abnorm... |
ORPHA:281 |
Endosteal Hyperostosis, Worth Type |
|
Craniofacial hyperostosis, Generalized osteosclerosis, Clavicular sclerosis, Abnormal cortical bo... |
ORPHA:2790 |
Hypophosphatemic Rickets With Hypercalciuria, Hereditary |
|
Calcium nephrolithiasis, Bowing of the legs, Delayed epiphyseal ossification, Bone pain, Femoral ... |
OMIM:241530 |
Osteomesopyknosis |
|
Increased bone mineral density, Abnormal cortical bone morphology |
ORPHA:2777 |
Vitamin D Hydroxylation-Deficient Rickets, Type 1B |
|
Bulging epiphyses, Enlargement of the ankles, Recurrent fractures, Bowing of the legs, Delayed ep... |
OMIM:600081 |
Hypocalcemic Vitamin D-Dependent Rickets |
|
Irregular, rachitic-like metaphyses, Delayed epiphyseal ossification, Bone pain, Femoral bowing, ... |
ORPHA:289157 |
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type |
|
Increased bone mineral density, Short stature, Splenomegaly, Abnormal limb bone morphology, Abnor... |
ORPHA:2204 |
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor |
|
Bulging epiphyses, Bowing of the long bones, Delayed epiphyseal ossification, Rickets, Genu varum... |
OMIM:600785 |
Pyle Disease |
|
Metaphyseal dysplasia, Metaphyseal widening, Reduced bone mineral density, Genu valgum, Cubitus v... |
OMIM:265900 |
Spastic Paraplegia-Paget Disease Of Bone Syndrome |
|
Increased spinal bone density, Recurrent fractures, Bone pain, Gait disturbance, Spastic gait |
ORPHA:329475 |
Vitamin D Hydroxylation-Deficient Rickets, Type 1A |
|
Bowing of the legs, Delayed epiphyseal ossification, Bone pain, Femoral bowing, Tibial bowing, El... |
OMIM:264700 |
Metatropic Dysplasia |
|
Severe short stature, Camptodactyly of finger, Joint stiffness, Abnormal enchondral ossification,... |
ORPHA:2635 |
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome |
|
Short stature, Camptodactyly of finger, Hypogonadotropic hypogonadism, Ataxia, Hypoglycemia, Oste... |
ORPHA:48431 |
Vitamin D-Dependent Rickets, Type 2A |
|
Bowing of the legs, Delayed epiphyseal ossification, Bone pain, Femoral bowing, Tibial bowing, El... |
OMIM:277440 |
Cranio-Osteoarthropathy |
|
Abnormality of the knee, Joint stiffness, Osteoarthritis, Abnormal tibia morphology, Large fontan... |
ORPHA:1525 |
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia |
|
Waddling gait, Short stature, Elevated circulating creatine kinase concentration, Congestive hear... |
ORPHA:52430 |
Hypergonadotropic Hypogonadism-Cataract Syndrome |
|
Hypergonadotropic hypogonadism, Recurrent fractures, Short stature, Increased circulating gonadot... |
ORPHA:2410 |
Hypophosphatasia, Infantile |
|
Death in infancy, Elevated urine pyrophosphate, Elevated plasma pyrophosphate, Hypercalcemia, Cra... |
OMIM:241500 |
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 2 |
|
Osteopenia, Pathologic fracture, Bone cyst, Gait disturbance |
OMIM:618193 |
Hypocalcemic Vitamin D-Resistant Rickets |
|
Joint dislocation, Hyperparathyroidism, Short stature, Recurrent fractures, Osteomalacia, Bone cy... |
ORPHA:93160 |
Laryngomalacia |
|
Respiratory distress, Congenital laryngeal stridor |
OMIM:150280 |
Familial Expansile Osteolysis |
|
Bowing of the long bones, Bone pain, Osteolysis, Hydroxyprolinuria, Pathologic fracture, Thin bon... |
OMIM:174810 |
Laryngotracheal Angioma |
|
Respiratory distress, Intercostal retractions, Apnea, Wheezing, Stridor, Cough |
ORPHA:137935 |
Developmental And Epileptic Encephalopathy 30 |
|
Respiratory distress, Death in infancy |
OMIM:616341 |
Isolated Congenital Hypoglossia/Aglossia |
|
Respiratory distress, Dyspnea, Upper airway obstruction, Aspiration pneumonia |
ORPHA:141152 |
Gorham-Stout Disease |
|
Osteopenia, Torticollis, Osteomyelitis, Abnormal pelvis bone morphology, Osteolysis involving bon... |
ORPHA:73 |
Osteogenesis Imperfecta, Type V |
|
Osteopenia, Hyperextensibility of the finger joints, Wormian bones, Short stature, Recurrent frac... |
OMIM:610967 |
Lethal Congenital Contracture Syndrome Type 1 |
|
Short stature, Recurrent fractures, Limitation of joint mobility, Abnormality of the elbow, Slend... |
ORPHA:1486 |
Albers-Schönberg Osteopetrosis |
|
Abnormal leukocyte morphology, Joint dislocation, Osteomyelitis, Short stature, Recurrent fractur... |
ORPHA:53 |
Ck Syndrome |
|
Abnormal cortical bone morphology, Abnormal digit morphology, Joint hypermobility |
OMIM:300831 |
Hypophosphatemic Rickets, X-Linked Recessive |
|
Bowing of the legs, Delayed epiphyseal ossification, Bone pain, Femoral bowing, Tibial bowing, Ne... |
OMIM:300554 |
Butyrylcholinesterase Deficiency |
|
Apnea |
OMIM:617936 |
Osteogenesis Imperfecta Congenita, Microcephaly, And Cataracts |
|
Multiple prenatal fractures, Decreased calvarial ossification, Stillbirth, Disproportionate short... |
OMIM:259410 |
Intermediate Osteopetrosis |
|
Osteomyelitis, Recurrent fractures, Cortical sclerosis, Generalized osteosclerosis, Thrombocytope... |
ORPHA:210110 |
Melnick-Needles Syndrome |
|
Craniofacial hyperostosis, Bowing of the long bones, Short stature, Coxa valga, Hip dislocation, ... |
ORPHA:2484 |
Respiratory Distress Syndrome In Premature Infants |
|
Respiratory distress, Dyspnea, Neonatal respiratory distress, Tachypnea |
OMIM:267450 |
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency |
|
Osteopenia, Proteinuria, Short stature, Hypoglycemia, Hyperlipidemia, Osteoporosis, Growth delay,... |
ORPHA:369 |
Bruck Syndrome 1 |
|
Joint laxity, Hip contracture, Short stature, Protrusio acetabuli, Ankle flexion contracture, Ost... |
OMIM:259450 |
Odontochondrodysplasia 1 |
|
Respiratory distress, Genu recurvatum, Metaphyseal widening, Nephronophthisis, Short phalanx of f... |
OMIM:184260 |
Osteogenesis Imperfecta, Type Iii |
|
Recurrent fractures, Severe generalized osteoporosis, Protrusio acetabuli, Multiple prenatal frac... |
OMIM:259420 |
Osteoporosis-Macrocephaly-Blindness-Joint Hyperlaxity Syndrome |
|
Osteoporosis, Joint hyperflexibility, Wormian bones, Short distal phalanx of finger, Brachydactyly |
ORPHA:2787 |
Dent Disease 1 |
|
Bowing of the legs, Delayed epiphyseal ossification, Bone pain, Femoral bowing, Tibial bowing, Ne... |
OMIM:300009 |
Metaphyseal Dysplasia, Braun-Tinschert Type |
|
Osteopenia, Broad tibial metaphyses, Tibial bowing, Humerus varus, Exostoses of the ulna, Scleros... |
ORPHA:85188 |
Stuve-Wiedemann Syndrome 2 |
|
Respiratory distress, Death in adolescence, Stillbirth, Neonatal death, Pulmonary arterial hypert... |
OMIM:619751 |
Hereditary Hypophosphatemic Rickets With Hypercalciuria |
|
Increased circulating osteocalcin level, Waddling gait, Hyperphosphaturia, Short stature, Osteoma... |
ORPHA:157215 |
Bronchopulmonary Dysplasia |
|
Respiratory distress, Central apnea, Respiratory failure requiring assisted ventilation, Dyspnea,... |
ORPHA:70589 |
Pulmonary Hypoplasia, Primary |
|
Neonatal death |
OMIM:265430 |
Osteopenia-Intellectual Disability-Sparse Hair Syndrome |
|
Osteopenia, Recurrent fractures, Postnatal growth retardation, Delayed skeletal maturation, 2-3 t... |
ORPHA:2324 |
Weismann-Netter Syndrome |
|
Bowing of the long bones, Severe short stature, Abnormal morphology of ulna, Abnormality of the h... |
ORPHA:3344 |
Urban-Rogers-Meyer Syndrome |
|
Hypoplasia of penis, Toe syndactyly, Short stature, Camptodactyly of finger, Recurrent fractures,... |
ORPHA:3409 |
Gnathodiaphyseal Dysplasia |
|
Osteopenia, Bowing of the long bones, Osteomyelitis, Diaphyseal cortical sclerosis, Increased sus... |
OMIM:166260 |
Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome |
|
Respiratory distress |
ORPHA:171703 |
Bruck Syndrome 2 |
|
Osteopenia, Wormian bones, Short stature, Flexion contracture, Elbow flexion contracture, Knee fl... |
OMIM:609220 |
Post-Traumatic Pituitary Deficiency |
|
Osteopenia, Hypogonadotropic hypogonadism, Decreased response to growth hormone stimulation test,... |
ORPHA:95619 |
Severe Acute Respiratory Syndrome |
|
Respiratory distress, Respiratory failure requiring assisted ventilation, Dyspnea, Hypoxemia, Acu... |
ORPHA:140896 |
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum |
|
Osteopenia, Arthropathy, Premature thelarche, Sclerotic cranial sutures, Osteolysis involving bon... |
ORPHA:371428 |
Juvenile Paget Disease |
|
Bowing of the long bones, Short stature, Recurrent fractures, Cranial hyperostosis, Osteoporosis,... |
ORPHA:2801 |
Lethal Recessive Chondrodysplasia |
|
Respiratory distress, Accelerated skeletal maturation, Generalized osteosclerosis, Short long bon... |
ORPHA:1423 |
Immunodeficiency 95 |
|
Respiratory distress, Respiratory failure, Recurrent viral pneumonia |
OMIM:619773 |
Caffey Disease |
|
Respiratory insufficiency, Periosteal thickening of long tubular bones, Cortical thickening of lo... |
ORPHA:1310 |
Osteogenesis Imperfecta, Type Xiv |
|
Osteopenia, Short stature, Recurrent fractures, Femoral bowing, Increased susceptibility to fract... |
OMIM:615066 |
Hypophosphatasia, Adult |
|
Arthropathy, Recurrent fractures, Osteomalacia, Rickets, Increased susceptibility to fractures, P... |
OMIM:146300 |
Autosomal Recessive Primary Microcephaly |
|
Short stature, Unilateral renal agenesis, Growth delay, Vesicoureteral reflux, Abnormal cortical ... |
ORPHA:2512 |
Angioosteohypotrophic Syndrome |
|
Abnormal trabecular bone morphology, Hypoplasia of the ulna, Short humerus, Telangiectasia of the... |
ORPHA:75508 |
Pachydermoperiostosis |
|
Gastrointestinal hemorrhage, Osteomyelitis, Elevated circulating growth hormone concentration, Im... |
ORPHA:2796 |
Solitary Bone Cyst |
|
Abnormal tibia morphology, Bone pain, Abnormal pubic bone morphology, Unicameral bone cyst, Lytic... |
ORPHA:83468 |
Hypophosphatasia |
|
Bowing of the long bones, Short stature, Recurrent fractures, Craniosynostosis, Hypercalcemia, Em... |
ORPHA:436 |
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections |
|
Osteopenia, Recurrent fractures, Craniosynostosis, Eosinophilia, Increased circulating IgE level,... |
OMIM:147060 |
Osteogenesis Imperfecta, Type Ii |
|
Crumpled long bones, Broad long bones, Recurrent fractures, Multiple prenatal fractures, Congesti... |
OMIM:166210 |
Bruck Syndrome |
|
Bowing of the long bones, Short stature, Recurrent fractures, Joint stiffness, Osteoporosis, Resp... |
ORPHA:2771 |
Coronary Artery Disease, Autosomal Dominant 2 |
|
Hypertriglyceridemia, Impaired glucose tolerance, Sudden cardiac death, Myocardial infarction, Os... |
OMIM:610947 |
Osteogenesis Imperfecta, Type Xix |
|
Osteopenia, Severe short stature, Rhizomelia, Recurrent fractures, Bowing of the legs, Multiple p... |
OMIM:301014 |
Fibrous Dysplasia Of Bone |
|
Abnormal tibia morphology, Bone pain, Abnormal femur morphology, Coxa vara, Thyroid carcinoma, Pa... |
ORPHA:249 |
Osteogenesis Imperfecta, Type Ix |
|
Recurrent fractures, Multiple prenatal fractures, Decreased calvarial ossification, Bowing of lim... |
OMIM:259440 |
Classic Galactosemia |
|
Decreased serum insulin-like growth factor 1, Dystonia, Ataxia, Postural tremor, Hypoglycemia, Ab... |
ORPHA:79239 |
Osteogenesis Imperfecta, Type Xii |
|
Hyperextensibility of the finger joints, Short stature, Recurrent fractures, Bowing of the legs, ... |
OMIM:613849 |
Multicentric Osteolysis, Nodulosis, And Arthropathy |
|
Osteopenia, Metaphyseal widening, Metatarsal osteolysis, Camptodactyly of toe, Wrist flexion cont... |
OMIM:259600 |
Hernia, Anterior Diaphragmatic |
|
Neonatal death |
OMIM:306950 |
Propionic Acidemia |
|
Pancytopenia, Dystonia, Increased level of hippuric acid in urine, Short stature, Hypoglycemia, A... |
OMIM:606054 |
Osteosarcoma |
|
Abnormal femoral metaphysis morphology, Osteolysis, Joint swelling, Abnormal tibial metaphysis mo... |
ORPHA:668 |
Short Stature, Dauber-Argente Type |
|
Osteopenia, Long toe, Arachnodactyly, Short stature, Decreased fibular diameter, Postnatal growth... |
OMIM:619489 |
Craniometadiaphyseal Dysplasia, Wormian Bone Type |
|
Osteopenia, Increased bone mineral density, Broad femoral neck, Short tubular bones of the hand, ... |
ORPHA:85184 |
Cerebroretinal Microangiopathy With Calcifications And Cysts 1 |
|
Osteopenia, Bowing of the long bones, Short stature, Ataxia, Retinal telangiectasia, Metaphyseal ... |
OMIM:612199 |
Cerebroretinal Microangiopathy With Calcifications And Cysts 3 |
|
Gastrointestinal hemorrhage, Urinary incontinence, Recurrent fractures, Inability to walk, Death ... |
OMIM:620368 |
Epidermolysis Bullosa With Diaphragmatic Hernia |
|
Neonatal death |
OMIM:226735 |
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency |
|
Short stature, Hypoglycemia, Postnatal growth retardation, Insulin resistance, Delayed skeletal m... |
ORPHA:73272 |
Variant Abeta2M Amyloidosis |
|
Multiple bony cystic lesions, Chronic kidney disease, Reduced left ventricular ejection fraction,... |
ORPHA:314652 |
Congenital Laryngeal Web |
|
Respiratory distress, Stridor |
ORPHA:2374 |
Mycetoma |
|
Abnormality of the knee, Osteomyelitis, Bone cyst, Osteoporosis, Abnormal forearm bone morphology... |
ORPHA:2583 |
Pycnodysostosis |
|
Persistent open anterior fontanelle, Decreased response to growth hormone stimulation test, Gener... |
ORPHA:763 |
Dent Disease |
|
Enlarged epiphyses, Elevated circulating creatine kinase concentration, Bowing of the legs, Delay... |
ORPHA:1652 |
Bronchiolitis Obliterans With Obstructive Pulmonary Disease |
|
Pneumonia, Reduced forced expiratory volume in one second, Reduced forced vital capacity, Dyspnea... |
ORPHA:1303 |
Gaucher Disease Type 1 |
|
Osteopenia, Osteoarthritis, Bone pain, Leukopenia, Avascular necrosis, Increased bone mineral den... |
ORPHA:77259 |
Tenorio Syndrome |
|
Osteopenia, Joint laxity, Hypoglycemia, Apnea, Raynaud phenomenon, Recurrent pneumonia, Enuresis,... |
OMIM:616260 |
Autosomal Recessive Cutis Laxa Type 2A |
|
Abnormal bleeding, Persistent open anterior fontanelle, Congenital hip dislocation, Ataxia, Delay... |
ORPHA:357058 |
Chronic Pneumonitis Of Infancy |
|
Respiratory distress, Intercostal retractions, Reduced forced vital capacity, Tachypnea, Hypoxemi... |
ORPHA:91359 |
Spondylometaphyseal Dysplasia, Pagnamenta Type |
|
Thin bony cortex, Rhizomelia, Delayed skeletal maturation, Femoral bowing, Wormian bones, Short 4... |
OMIM:619638 |
Beta-Thalassemia Intermedia |
|
Osteopenia, Extramedullary hematopoiesis, Reduced bone mineral density, Elevated hepatic iron con... |
ORPHA:231222 |
Osteopetrosis, Autosomal Dominant 2 |
|
Recurrent fractures, Mandibular osteomyelitis, Fractures of the long bones, Generalized osteoscle... |
OMIM:166600 |
Marshall-Smith Syndrome |
|
Bowing of the long bones, Craniosynostosis, Accelerated skeletal maturation, Increased susceptibi... |
ORPHA:561 |
Proteus Syndrome |
|
Splenomegaly, Mandibular hyperostosis, Calvarial hyperostosis, Facial hyperostosis, Thin bony cortex |
OMIM:176920 |
Stüve-Wiedemann Syndrome |
|
Osteopenia, Respiratory distress, Apnea, Metaphyseal widening, Flexion contracture, Knee flexion ... |
ORPHA:3206 |
Majeed Syndrome |
|
Increased bone mineral density, Osteomyelitis, Proteinuria, Congenital hypoplastic anemia, Spleno... |
ORPHA:77297 |
Craniodiaphyseal Dysplasia, Autosomal Dominant |
|
Craniofacial hyperostosis, Short stature, Cortical sclerosis, Craniofacial osteosclerosis, Diaphy... |
OMIM:122860 |
Maffucci Syndrome |
|
Neoplasm of the adrenal cortex, Short stature, Recurrent fractures, Neoplasm of the parathyroid g... |
ORPHA:163634 |
Myasthenic Syndrome, Congenital, 6, Presynaptic |
|
Respiratory distress, Respiratory insufficiency due to muscle weakness, Sudden episodic apnea, Ap... |
OMIM:254210 |
Osteopetrosis, Autosomal Recessive 9 |
|
Increased bone mineral density, Hyperparathyroidism, Stage 3 chronic kidney disease, Cortical scl... |
OMIM:620366 |
Metaphyseal Chondrodysplasia, Jansen Type |
|
Osteopenia, Hip contracture, Bowing of the long bones, Hypoparathyroidism, Hyperphosphaturia, Hyp... |
OMIM:156400 |
Neonatal Severe Primary Hyperparathyroidism |
|
Short stature, Recurrent fractures, Abnormality of the thyroid gland, Splenomegaly, Abnormal circ... |
ORPHA:417 |
Peroxisome Biogenesis Disorder 12A (Zellweger) |
|
Short stature, Delayed closure of the anterior fontanelle, Wide anterior fontanel, Patent ductus ... |
OMIM:614886 |
Oncogenic Osteomalacia |
|
Hyperphosphaturia, Abnormal pelvis bone morphology, Abnormality of the tarsal bones, Fibrous dysp... |
ORPHA:352540 |
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1 |
|
Pathologic fracture, Bone cyst, Gait disturbance, Urinary incontinence |
OMIM:221770 |
Osteogenesis Imperfecta-Retinopathy-Seizures-Intellectual Disability Syndrome |
|
Wormian bones, Recurrent fractures |
ORPHA:2773 |
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency |
|
Short stature, Delayed skeletal maturation, Elevated circulating thyroid-stimulating hormone conc... |
ORPHA:171706 |
Kniest Dysplasia |
|
Respiratory distress, Hip contracture, Enlarged joints, Rhizomelia, Dumbbell-shaped long bone, De... |
OMIM:156550 |
Hereditary Pulmonary Alveolar Proteinosis |
|
Respiratory distress, Respiratory failure requiring assisted ventilation, Crackles, Tachypnea, Ac... |
ORPHA:264675 |
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy |
|
Respiratory distress |
OMIM:619099 |
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Osteopenia, Short femur, Fractured radius, Hypospadias, Decreased fibular diameter, Multiple pren... |
OMIM:616897 |
Infantile Systemic Hyalinosis |
|
Osteopenia, Severe short stature, Telangiectasia of the skin, Recurrent fractures, Osteomalacia, ... |
ORPHA:2176 |
Osteogenesis Imperfecta, Type Xxi |
|
Recurrent fractures, Bowing of the legs, Coxa valga, Osteoporosis, Coxa vara, Disproportionate sh... |
OMIM:619131 |
Cardiomyopathy, Dilated, 2H |
|
Neonatal death, Tachypnea, Cardiorespiratory arrest |
OMIM:620203 |
Autosomal Recessive Kenny-Caffey Syndrome |
|
Stenosis of the medullary cavity of the long bones, Hypocalcemic tetany, Postnatal growth retarda... |
ORPHA:93324 |
Combined Osteogenesis Imperfecta And Ehlers-Danlos Syndrome 1 |
|
Recurrent joint dislocation, Short stature, Recurrent fractures, Arterial rupture, Reduced bone m... |
OMIM:619115 |
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type |
|
Death in infancy, Iliac crest serration, Short stature, Wide distal femoral metaphysis, Postnatal... |
OMIM:613320 |
Osteogenesis Imperfecta, Type Iv |
|
Otosclerosis, Short stature, Recurrent fractures, Reduced bone mineral density, Increased suscept... |
OMIM:166220 |
Osteogenesis Imperfecta, Type Xiii |
|
Angulated humerus, Increased bone mineral density, Arachnodactyly, Recurrent fractures, Short sta... |
OMIM:614856 |
Florid Cemento-Osseous Dysplasia |
|
Abnormal trabecular bone morphology, Multiple bony cystic lesions, Mandibular osteomyelitis, Avas... |
ORPHA:83451 |
Osteogenesis Imperfecta, Type Xi |
|
Osteopenia, Joint laxity, Short stature, Recurrent fractures, Protrusio acetabuli, Coxa vara, Inc... |
OMIM:610968 |
Familial Nasal Acilia |
|
Respiratory distress, Dyspnea, Bronchiectasis, Chronic rhinitis, Chronic sinusitis |
ORPHA:922 |
Short Stature Due To Ghsr Deficiency |
|
Decreased serum insulin-like growth factor 1, Short stature, Hypoglycemia, Delayed skeletal matur... |
ORPHA:314811 |
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome |
|
Hypoplasia of penis, Recurrent fractures, Joint hyperflexibility, Decreased calvarial ossificatio... |
ORPHA:2772 |
Osteogenesis Imperfecta, Type Xvi |
|
Osteopenia, Prolonged bleeding time, Angulated humerus, Bowing of the long bones, Short stature, ... |
OMIM:616229 |
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2 |
|
Osteopenia, Joint laxity, Epiphyseal dysplasia, Bowing of the long bones, Short stature, Hypoplas... |
OMIM:615349 |
Diaphanospondylodysostosis |
|
Respiratory distress, Narrow pelvis bone, Multiple renal cysts, Absent or minimally ossified vert... |
ORPHA:66637 |
Isolated Growth Hormone Deficiency, Type Ia |
|
Decreased serum insulin-like growth factor 1, Severe short stature, Persistent open anterior font... |
OMIM:262400 |
Achondrogenesis Type 1A |
|
Severe short stature, Recurrent fractures, Abnormal enchondral ossification, Short foot, Short palm |
ORPHA:93299 |
Short Stature Due To Partial Ghr Deficiency |
|
Decreased serum insulin-like growth factor 1, Short stature, Hypoglycemia, Delayed skeletal matur... |
ORPHA:314802 |
Osteosclerosis With Ichthyosis And Fractures |
|
Increased bone mineral density, Recurrent fractures, Femoral bowing, Tibial bowing, Cortical thic... |
OMIM:166740 |
Osteogenesis Imperfecta, Type I |
|
Osteopenia, Otosclerosis, Recurrent fractures, Increased susceptibility to fractures, Femoral bow... |
OMIM:166200 |
Recurrent Respiratory Papillomatosis |
|
Respiratory distress, Nonproductive cough, Wheezing, Tachypnea, Dyspnea, Upper airway obstruction... |
ORPHA:60032 |
Menkes Disease |
|
Joint laxity, Decreased circulating ceruloplasmin concentration, Short stature, Metaphyseal spurs... |
OMIM:309400 |
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs |
|
Respiratory distress, Large posterior fontanelle, Delayed epiphyseal ossification, Elevated circu... |
ORPHA:226313 |
Myopathy, Myofibrillar, Fatal Infantile Hypertonic, Alpha-B Crystallin-Related |
|
Death in infancy, Respiratory failure, Apnea, Respiratory insufficiency |
OMIM:613869 |
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type |
|
Coxa vara, Reduced bone mineral density, Tibial bowing, Iron deficiency anemia, Hypoplastic iliac... |
ORPHA:93315 |
Osteopetrosis, Autosomal Recessive 4 |
|
Reticulocytosis, Increased bone mineral density, Recurrent fractures, Splenomegaly, Thrombocytope... |
OMIM:611490 |
Cardiomyopathy, Dilated, 1Gg |
|
Respiratory distress |
OMIM:613642 |
Paget Disease Of Bone 2, Early-Onset |
|
Bowing of the long bones, Short femur, Hypercalcemia, Fractures of the long bones, Bone pain, Ost... |
OMIM:602080 |
Aggressive Systemic Mastocytosis |
|
Gastrointestinal hemorrhage, Pancytopenia, Portal hypertension, Hypersplenism, Thrombocytopenia, ... |
ORPHA:98850 |
Nestor-Guillermo Progeria Syndrome |
|
Limited elbow movement, Flexion contracture, Rib osteolysis, Short stature, Osteoporosis, Wide cr... |
OMIM:614008 |
Autosomal Recessive Hypophosphatemic Rickets |
|
Abnormality of renal excretion, Bone pain, Coxa vara, Enthesitis, Tibial bowing, Hypocalcemic tet... |
ORPHA:289176 |
Ciliary Dyskinesia, Primary, 47, And Lissencephaly |
|
Respiratory distress, Bronchiectasis, Abnormal mucociliary clearance |
OMIM:619466 |
Chondroectodermal Dysplasia With Night Blindness |
|
Osteopenia, Epiphyseal dysplasia, Metaphyseal dysplasia, Abnormality of the knee, Short stature, ... |
ORPHA:319195 |
Fanconi Renotubular Syndrome 2 |
|
Osteopenia, Renal insufficiency, Proteinuria, Recurrent fractures, Osteomalacia, Short stature, R... |
OMIM:613388 |
Dysosteosclerosis |
|
Osteopenia, Sclerosis of hand bone, Sclerotic scapulae, Delayed closure of the anterior fontanell... |
OMIM:224300 |
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome |
|
Increased bone mineral density, Coxa valga, Wide anterior fontanel, Abnormality of the elbow, Fla... |
ORPHA:163649 |
Myasthenic Syndrome, Congenital, 4A, Slow-Channel |
|
Respiratory distress, Respiratory insufficiency due to muscle weakness, Sudden episodic apnea, Ap... |
OMIM:605809 |
Osteopetrosis, Autosomal Recessive 2 |
|
Pancytopenia, Osteomyelitis, Extramedullary hematopoiesis, Recurrent fractures, Mandibular osteom... |
OMIM:259710 |
Osteogenesis Imperfecta, Type Xviii |
|
Joint laxity, Thin bony cortex, Bowing of the long bones, Recurrent fractures, Femoral bowing, Wo... |
OMIM:617952 |
Cole-Carpenter Syndrome 2 |
|
Osteopenia, Wide cranial sutures, Short stature, Recurrent fractures, Postnatal growth retardatio... |
OMIM:616294 |
Pleural Mesothelioma |
|
Respiratory distress, Dyspnea, Abnormal respiratory system physiology, Cough, Pleural effusion |
ORPHA:50251 |
Osteopetrosis, Autosomal Recessive 1 |
|
Increased bone mineral density, Osteomyelitis, Femur fracture, Pancytopenia, Craniosynostosis, Th... |
OMIM:259700 |
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies |
|
Osteopenia, Epiphyseal dysplasia, Metaphyseal dysplasia, Hypospadias, Decreased response to growt... |
OMIM:614732 |
Interstitial Pneumonitis, Desquamative, Familial |
|
Respiratory distress, Respiratory failure, Tachypnea, Cough |
OMIM:263000 |
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease |
|
Increased urinary cortisol level, Paradoxical increased cortisol secretion on dexamethasone suppr... |
ORPHA:189427 |
Spinal muscular atrophy, type I, with congenital bone fractures |
|
Osteopenia, Respiratory distress, Congenital hip dislocation, Arachnodactyly, Rocker bottom foot,... |
OMIM:271225 |
Pituitary Hormone Deficiency, Combined, 4 |
|
Pituitary dwarfism, Short stature, Hypoglycemia, Severe postnatal growth retardation, Adrenal ins... |
OMIM:262700 |
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 2 |
|
Osteopenia, Hyperphosphaturia, Osteoporosis, Nephrolithiasis, Increased susceptibility to fractur... |
OMIM:612287 |
Gaucher Disease Type 3 |
|
Increased bone mineral density, Pancytopenia, Proteinuria, Ataxia, Thrombocytopenia, Splenomegaly... |
ORPHA:77261 |
Segmental Outgrowth-Lipomatosis-Arteriovenous Malformation-Epidermal Nevus Syndrome |
|
Congestive heart failure, Neoplasm of the thyroid gland, Recurrent fractures, Reduced bone minera... |
ORPHA:137608 |
Cryptogenic Organizing Pneumonia |
|
Respiratory distress, Bronchial breath sound, Crackles, Nonproductive cough, Dyspnea, Wheezing, P... |
ORPHA:1302 |
Maternal Uniparental Disomy Of Chromosome 1 |
|
Pancytopenia, Short stature, Ataxia, Delayed closure of the anterior fontanelle, Abnormal limb bo... |
ORPHA:251009 |
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Osteopenia, Prolonged bleeding following procedure, Hypoglycemic seizures, Nephrocalcinosis, Hypo... |
ORPHA:79259 |
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 1 |
|
Osteopenia, Hyperphosphaturia, Osteoporosis, Nephrolithiasis, Hypercalciuria, Increased susceptib... |
OMIM:612286 |
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 1, Autosomal Recessive |
|
Respiratory distress, Lymphocytic interstitial pneumonia |
OMIM:245590 |
Osteopetrosis, Autosomal Dominant 3 |
|
Osteopenia, Hyperparathyroidism, Recurrent fractures, Splenomegaly, Anemia |
OMIM:618107 |
Myopathy And Diabetes Mellitus |
|
Impaired vibratory sensation, Respiratory distress, Inability to walk, Achilles tendon contractur... |
ORPHA:2596 |
Insulin Autoimmune Syndrome |
|
Nonketotic hypoglycemia, Arthralgia/arthritis, Reactive hypoglycemia, Insulin-resistant diabetes ... |
ORPHA:411593 |
Stuve-Wiedemann Syndrome 1 |
|
Enlarged joints, Apnea, Knee flexion contracture, Femoral bowing, Tibial bowing, Short tibia, Sho... |
OMIM:601559 |
Caffey Disease |
|
Cortical irregularity, Bowing of the legs, Periosteal thickening of long tubular bones, Tibial bo... |
OMIM:114000 |
Geroderma Osteodysplastica |
|
Severe short stature, Recurrent fractures, Osteoporosis, Hip dislocation, Growth delay, Joint hyp... |
ORPHA:2078 |
Geroderma Osteodysplasticum |
|
Osteopenia, Hyperextensibility of the finger joints, Severe short stature, Recurrent fractures, O... |
OMIM:231070 |
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia |
|
Osteopenia, Congenital hip dislocation, Decreased response to growth hormone stimulation test, De... |
OMIM:616007 |
Cleidocranial Dysplasia |
|
Sinusitis, Coxa vara, Hypoplastic inferior ilia, Clinodactyly of the 5th finger, Spina bifida occ... |
ORPHA:1452 |
Osteogenesis Imperfecta, Type X |
|
Osteopenia, Joint laxity, Bowing of the long bones, Short femur, Short stature, Rhizomelia, Respi... |
OMIM:613848 |
Severe X-Linked Mitochondrial Encephalomyopathy |
|
Respiratory distress, Respiratory insufficiency |
ORPHA:238329 |
Pulmonary Non-Tuberculous Mycobacterial Infection |
|
Respiratory distress, Crackles, Dyspnea, Chronic pulmonary obstruction, Pneumothorax, Bronchiecta... |
ORPHA:411703 |
Spondyloepimetaphyseal Dysplasia, Irapa Type |
|
Short metacarpal, Osteoarthritis, Limitation of joint mobility, Osteoporosis, Abnormal carpal mor... |
ORPHA:93351 |
Osteogenesis Imperfecta |
|
Osteopenia, Osteoarthritis, Flexion contracture, Abnormal tibia morphology, Abnormal femur morpho... |
ORPHA:666 |
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia |
|
Joint dislocation, Decreased circulating IgG level, Short stature, Joint stiffness, Postnatal gro... |
OMIM:620210 |
Idiopathic Juvenile Osteoporosis |
|
Bone pain, Osteoporosis, Recurrent fractures, Gait disturbance |
ORPHA:85193 |
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome |
|
Hypothalamic gonadotropin-releasing hormone deficiency, Hypogonadotropic hypogonadism, Recurrent ... |
ORPHA:2235 |
Glycogen Storage Disease Ia |
|
Abnormal bleeding, Proteinuria, Short stature, Hypoglycemia, Hyperlipidemia, Osteoporosis, Nephro... |
OMIM:232200 |
Gaucher Disease |
|
Osteopenia, Joint dislocation, Elevated circulating C-reactive protein concentration, Tremor, Ost... |
ORPHA:355 |
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement |
|
Osteopenia, Abnormality of the knee, Broad-based gait, Broad hallux, Postnatal growth retardation... |
ORPHA:251028 |
Diaphyseal Medullary Stenosis With Malignant Fibrous Histiocytoma |
|
Osteopenia, Stenosis of the medullary cavity of the long bones, Diaphyseal cortical sclerosis, Pa... |
OMIM:112250 |
Bone Fragility With Contractures, Arterial Rupture, And Deafness |
|
Osteopenia, Contracture of the proximal interphalangeal joint of the 2nd finger, Overlapping fing... |
OMIM:612394 |
Calvarial Doughnut Lesions With Bone Fragility |
|
Osteopenia, Severe short stature, Recurrent fractures, Osteoporosis, Femoral bowing |
OMIM:126550 |
Gaucher Disease Type 2 |
|
Respiratory distress, Abnormal pattern of respiration, Cough |
ORPHA:77260 |
Multiple Enchondromatosis, Maffucci Type |
|
Pathologic fracture |
OMIM:614569 |
Greig Cephalopolysyndactyly Syndrome |
|
Broad hallux phalanx, Broad hallux, Hypospadias, Craniosynostosis, 1-3 toe syndactyly, Accelerate... |
OMIM:175700 |
Oculodentodigital Dysplasia |
|
Clinodactyly of the 5th finger, Finger syndactyly, Ataxia, Short hallux, Aplasia/Hypoplasia of th... |
ORPHA:2710 |
Lethal Osteosclerotic Bone Dysplasia |
|
Respiratory distress, Dyspnea, Respiratory failure |
ORPHA:1832 |
Familial Osteodysplasia, Anderson Type |
|
Recurrent fractures, Aplastic clavicle, Elbow dislocation, Bifid femur, Increased susceptibility ... |
ORPHA:2769 |
Mucolipidosis Ii Alpha/Beta |
|
Osteopenia, Increased serum beta-hexosaminidase, Metaphyseal widening, Death in childhood, Split ... |
OMIM:252500 |
Lenz-Majewski Hyperostotic Dwarfism |
|
Epispadias, Abnormal finger morphology, Symphalangism affecting the phalanges of the hand, Short ... |
ORPHA:2658 |
Hyperparathyroidism, Transient Neonatal |
|
Osteopenia, Respiratory distress, Hyperparathyroidism, Short femur, Wide cranial sutures, Recurre... |
OMIM:618188 |
Dysosteosclerosis |
|
Craniofacial hyperostosis, Increased bone mineral density, Short stature, Recurrent fractures, Ab... |
ORPHA:1782 |
Spondylodysplastic Ehlers-Danlos Syndrome |
|
Osteopenia, Joint dislocation, Multiple joint contractures, Generalized joint laxity, Flexion con... |
ORPHA:536471 |
Hereditary Sensory And Autonomic Neuropathy Type 1 |
|
Pain insensitivity, Osteomyelitis, Neuropathic arthropathy, Impaired temperature sensation, Inabi... |
ORPHA:36386 |
Brittle Cornea Syndrome |
|
Hallux valgus, Arachnodactyly, Osteoporosis, Increased susceptibility to fractures, Joint hyperfl... |
ORPHA:90354 |
Idiopathic Congenital Hypothyroidism |
|
Large posterior fontanelle, Delayed proximal femoral epiphyseal ossification, Elevated circulatin... |
ORPHA:95717 |
Neurogenic Arthrogryposis Multiplex Congenita |
|
Respiratory distress, Hip contracture, Rocker bottom foot, Ankle flexion contracture, Respiratory... |
ORPHA:1143 |
Congenital Disorder Of Glycosylation With Defective Fucosylation 1 |
|
Osteopenia, Short stature, Hypoglycemia, Patent ductus arteriosus, Hip dislocation, Nephrocalcino... |
OMIM:618005 |
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type |
|
Respiratory distress, Radial bowing, Rhizomelia, Dumbbell-shaped long bone, Hypoplastic ischia, H... |
OMIM:151210 |
H Syndrome |
|
Hallux valgus, Diabetes mellitus, Hypertriglyceridemia, Recurrent fractures, Short stature, Micro... |
ORPHA:168569 |
Paget Disease Of Bone 5, Juvenile-Onset |
|
Osteopenia, Short humerus, Increased bone mineral density, Bowing of the long bones, Increased ur... |
OMIM:239000 |
Perching Syndrome |
|
Respiratory distress |
OMIM:617055 |
Osteoglophonic Dysplasia |
|
Osteopenia, Respiratory distress, Short metatarsal, Short palm, Short phalanx of finger, Pseudoar... |
OMIM:166250 |
Mccune-Albright Syndrome |
|
Accelerated skeletal maturation, Bone pain, Abnormal femur morphology, Aneurysmal bone cyst, Hype... |
ORPHA:562 |
Osteogenesis Imperfecta, Type Xvii |
|
Joint laxity, Bowed humerus, Recurrent fractures, Short stature, Intraventricular hemorrhage, Ost... |
OMIM:616507 |
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis |
|
Osteopenia, Respiratory distress, Osteomyelitis, Neutrophilia, Abscess, Elevated circulating C-re... |
OMIM:612852 |
Progressive Pseudorheumatoid Dysplasia |
|
Arthropathy, Enlarged epiphyses, Enlarged interphalangeal joints, Waddling gait, Camptodactyly of... |
OMIM:208230 |
Pulmonary Venoocclusive Disease 2, Autosomal Recessive |
|
Decreased DLCO, Dyspnea, Pulmonary arterial hypertension, Cough |
OMIM:234810 |
Cleidocranial Dysplasia 1 |
|
Respiratory distress, Persistent open anterior fontanelle, Short middle phalanx of the 2nd finger... |
OMIM:119600 |
Osteogenesis Imperfecta, Type Vii |
|
Osteopenia, Death in infancy, Crumpled long bones, Wide cranial sutures, Short stature, Recurrent... |
OMIM:610682 |
Congenital Glucokinase-Related Hyperinsulinism |
|
Fasting hyperinsulinemia, Abnormal circulating C-peptide concentration, Hand tremor, Recurrent hy... |
ORPHA:79299 |
Prader-Willi Syndrome |
|
Osteopenia, Diabetes mellitus, Short stature, Decreased response to growth hormone stimulation te... |
ORPHA:739 |
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 4B |
|
Neonatal death, Apnea |
OMIM:615228 |
Cole-Carpenter Syndrome 1 |
|
Osteopenia, Short stature, Recurrent fractures, Reduced bone mineral density, Wormian bones, Coro... |
OMIM:112240 |
Rothmund-Thomson Syndrome |
|
Osteopenia, Abnormal trabecular bone morphology, Hypoplasia of the ulna, Calcinosis, Telangiectas... |
ORPHA:2909 |
Shashi-Pena Syndrome |
|
Short metacarpal, Hypoglycemia, Unilateral renal agenesis, Accelerated skeletal maturation, Paten... |
OMIM:617190 |
Dysplasia Epiphysealis Hemimelica |
|
Abnormal femoral neck morphology, Tarsal synostosis, Recurrent fractures, Joint stiffness, Accele... |
ORPHA:1822 |
Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Normocytic anemia, Acute myeloid leukemia, Tachycardia, Neutrophilia, Eosinophilia, Splenomegaly,... |
ORPHA:98849 |
Greenberg Dysplasia |
|
Multiple prenatal fractures, Patchy variation in bone mineral density, Tetraphocomelia, Hypoplasi... |
OMIM:215140 |
Rothmund-Thomson Syndrome Type 1 |
|
Osteopenia, Aplastic anemia, Patellar hypoplasia, Neutropenia, Hypothyroidism, Short phalanx of f... |
ORPHA:221008 |
Osteopetrosis, Autosomal Recessive 7 |
|
Abnormal trabecular bone morphology, Death in infancy, Femur fracture, Splenomegaly, Recurrent pn... |
OMIM:612301 |
Rothmund-Thomson Syndrome Type 2 |
|
Osteopenia, Joint dislocation, Aplastic anemia, Patellar hypoplasia, Neutropenia, Short phalanx o... |
ORPHA:221016 |
Paternal Uniparental Disomy Of Chromosome 1 |
|
Pain insensitivity, Membranoproliferative glomerulonephritis, Proteinuria, Recurrent fractures, C... |
ORPHA:251004 |
Gm1-Gangliosidosis, Type Ii |
|
Ataxia, Coxa valga, Joint stiffness, Splenomegaly, Patent ductus arteriosus, Gait disturbance, Se... |
OMIM:230600 |
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome |
|
Osteopenia, Respiratory distress, Multiple joint contractures, Metaphyseal widening, Multiple joi... |
ORPHA:536467 |
Van Buchem Disease |
|
Increased bone mineral density, Cranial hyperostosis, Thickened cortex of long bones |
OMIM:239100 |
Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Osteopenia, Flexion contracture, Hyperglycemia, Calcinosis, Short clavicles, Short distal phalanx... |
OMIM:248370 |
Schimmelpenning-Feuerstein-Mims Syndrome |
|
Osteopenia, Hyperphosphaturia, Short stature, Recurrent fractures, Abnormal toe morphology, Preco... |
OMIM:163200 |
Diaphanospondylodysostosis |
|
Delayed vertebral ossification, Respiratory distress, Absent in utero ossification of vertebral b... |
OMIM:608022 |
Hjv Or Hamp-Related Hemochromatosis |
|
Arthropathy, Diabetes mellitus, Increased circulating ferritin concentration, Elevated transferri... |
ORPHA:79230 |
Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Death in early adulthood, Insulin-resistant diabetes mellitus, Flexion contracture, Hyperinsuline... |
OMIM:608612 |
Mehmo Syndrome |
|
Hypoglycemia, Decreased response to growth hormone stimulation test, Inability to walk, Gait atax... |
OMIM:300148 |
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects |
|
Osteopenia, Accelerated skeletal maturation, Multiple joint dislocation, Knee dislocation, Should... |
OMIM:245600 |
Familial Dysautonomia |
|
Hyponatremia, Orthostatic hypotension, Tachycardia, Renal insufficiency, Recurrent fractures, Ata... |
ORPHA:1764 |
Mccune-Albright Syndrome |
|
Craniofacial hyperostosis, Hyperparathyroidism, Hyperthyroidism, Elevated circulating growth horm... |
OMIM:174800 |
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked |
|
Respiratory distress, Respiratory insufficiency due to muscle weakness |
OMIM:300580 |
Hypoglycemia, Leucine-Induced |
|
Ataxia, Hypoglycemia, Hyperinsulinemic hypoglycemia |
OMIM:240800 |
Congenital Myopathy 10A, Severe Variant |
|
Respiratory distress, Camptodactyly of finger, Elevated circulating creatine kinase concentration... |
OMIM:614399 |
Alg12-Cdg |
|
Proximal placement of thumb, Recurrent hypoglycemia, Hypoalbuminemia, Abnormal bone ossification,... |
ORPHA:79324 |
Renal Tubular Acidosis, Distal, 1 |
|
Impaired urinary acidification, Osteomalacia, Distal renal tubular acidosis, Elevated circulating... |
OMIM:179800 |
Surfactant Metabolism Dysfunction, Pulmonary, 3 |
|
Respiratory distress, Death in infancy, Neonatal respiratory distress, Nonspecific interstitial p... |
OMIM:610921 |
Intermediate Nemaline Myopathy |
|
Multiple prenatal fractures, Flexion contracture, Cardiomyopathy, Respiratory failure, Difficulty... |
ORPHA:171433 |
Laron Syndrome |
|
Hypoplasia of penis, Severe short stature, Hypoglycemia, Abnormality of the endocrine system, Sho... |
ORPHA:633 |
Fanconi-Bickel Syndrome |
|
Osteopenia, Bowing of the long bones, Diabetes mellitus, Hyperphosphaturia, Hypertriglyceridemia,... |
ORPHA:2088 |
Familial Thyroid Dyshormonogenesis |
|
Positive perchlorate discharge test, Large posterior fontanelle, Thyroid defect in oxidation and ... |
ORPHA:95716 |
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome |
|
Congenital hip dislocation, Chorea, Reduced bone mineral density, Shoulder dislocation, Hypotrigl... |
ORPHA:404454 |
Menkes Disease |
|
Gastrointestinal hemorrhage, Bowing of the long bones, Osteomyelitis, Hypoglycemia, Tarsal synost... |
ORPHA:565 |
Mirage Syndrome |
|
Adrenal hypoplasia, Intracranial hemorrhage, Leukopenia, Microphallus, Aspiration pneumonia, Hypo... |
OMIM:617053 |
Autosomal Dominant Hyper-Ige Syndrome |
|
Osteopenia, Osteomyelitis, Recurrent fractures, Craniosynostosis, Eosinophilia, Increased circula... |
ORPHA:2314 |
Shwachman-Diamond Syndrome 1 |
|
Acute myeloid leukemia, Myocardial necrosis, Pancytopenia, Respiratory distress, Short stature, N... |
OMIM:260400 |
Neutropenia, Lethal Congenital, With Eosinophilia |
|
Neonatal death |
OMIM:257100 |
Hyperinsulinism Due To Insr Deficiency |
|
Hypoglycemia, Insulin resistance, Fasting hyperinsulinemia, Abnormal circulating C-peptide concen... |
ORPHA:263458 |
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 5 |
|
Short stature, Elevated circulating creatine kinase concentration, Ankle flexion contracture, Hyp... |
OMIM:618120 |
Endosteal Hyperostosis, Autosomal Dominant |
|
Hyperostosis, Abnormal pelvic girdle bone morphology, Metacarpal diaphyseal endosteal sclerosis, ... |
OMIM:144750 |
Craniometadiaphyseal Dysplasia |
|
Osteopenia, Broad long bones, Short stature, Coxa valga, Wide anterior fontanel, Flared metaphysi... |
OMIM:269300 |
Short Chain Acyl-Coa Dehydrogenase Deficiency |
|
Respiratory distress, Dystonia, Ketotic hypoglycemia, Elevated circulating acylcarnitine concentr... |
ORPHA:26792 |
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young |
|
Hyperphosphaturia, Diabetes mellitus, Proteinuria, Hypouricemia, Short stature, Hypoglycemia, Ric... |
OMIM:616026 |
3-Methylglutaconic Aciduria Type 1 |
|
Progressive cerebellar ataxia, 3-Methylglutaconic aciduria, Hypoglycemia, Dystonia |
ORPHA:67046 |
Kallmann Syndrome |
|
Hypothalamic gonadotropin-releasing hormone deficiency, Hypoplasia of penis, Hypogonadotropic hyp... |
ORPHA:478 |
Cutis Laxa, Autosomal Dominant 3 |
|
Osteopenia, Joint laxity, Aortic regurgitation, Unilateral renal agenesis, Postnatal growth retar... |
OMIM:616603 |
Hao-Fountain Syndrome |
|
Hallux valgus, Large fontanelles, Clinodactyly of the 5th finger, Premature adrenarche, Micropeni... |
OMIM:616863 |
Congenital Disorder Of Glycosylation, Type Ie |
|
Respiratory distress, Ataxia, Elevated circulating creatine kinase concentration, Ankle flexion c... |
OMIM:608799 |
Campomelic Dysplasia |
|
Poorly ossified cervical vertebrae, Bowing of the long bones, Short stature, Recurrent fractures,... |
ORPHA:140 |
Autosomal Recessive Malignant Osteopetrosis |
|
Bowing of the long bones, Apnea, Recurrent fractures, Craniosynostosis, Tremor, Splenomegaly, Bon... |
ORPHA:667 |
Spondyloepiphyseal Dysplasia Congenita |
|
Respiratory distress, Waddling gait, Limited elbow movement, Hip dislocation, Coxa vara, Flattene... |
OMIM:183900 |
Neurodevelopmental Disorder With Spastic Quadriplegia And Brain Abnormalities With Or Without Seizures |
|
Respiratory distress, Inability to walk, Joint contracture |
OMIM:617977 |
Congenital Hyperinsulinism Due To Hnf4A Deficiency |
|
Tachycardia, Proteinuria, Abnormal circulating fatty-acid concentration, Tremor, Hyperinsulinemia... |
ORPHA:263455 |
Premature Aging Syndrome, Penttinen Type |
|
Brachydactyly, Recurrent fractures, Hyperextensibility of the knee, Delayed skeletal maturation, ... |
OMIM:601812 |
Silver-Russell Syndrome Due To An Imprinting Defect Of 11P15 |
|
Short stature, Hypoglycemia, Delayed closure of the anterior fontanelle, Postnatal growth retarda... |
ORPHA:231140 |
Pulmonary Hypertension, Primary, 3 |
|
Increased pulmonary vascular resistance, Dyspnea, Elevated pulmonary artery pressure, Pulmonary a... |
OMIM:615343 |
Late-Onset Isolated Acth Deficiency |
|
Hypoparathyroidism, Normocytic anemia, Orthostatic hypotension, Decreased circulating cortisol le... |
ORPHA:199299 |
Glycogen Storage Disease Ib |
|
Proteinuria, Short stature, Hypoglycemia, Splenomegaly, Hyperlipidemia, Osteoporosis, Nephrolithi... |
OMIM:232220 |
Dwarfism, Low-Birth-Weight Type, With Unresponsiveness To Growth Hormone |
|
Intrauterine growth retardation, Severe short stature, Hypoglycemia |
OMIM:223500 |
Roifman Syndrome |
|
Noncompaction cardiomyopathy, Hip contracture, Epiphyseal dysplasia, Hypogonadotropic hypogonadis... |
ORPHA:353298 |
Al-Gazali Syndrome |
|
Osteopenia, Proximal radio-ulnar synostosis, Bowed humerus, Recurrent fractures, Recurrent pneumo... |
OMIM:609465 |
Lysinuric Protein Intolerance |
|
Hypolysinemia, Recurrent fractures, Short stature, Thrombocytopenia, Splenomegaly, Increased circ... |
OMIM:222700 |
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency |
|
Hypertriglyceridemia, Short stature, Elevated circulating creatine kinase concentration, Hypoglyc... |
ORPHA:264580 |
Hamamy Syndrome |
|
Osteopenia, Syndactyly, Long toe, Hypoparathyroidism, Prolonged QRS complex, Recurrent fractures,... |
OMIM:611174 |
Grange Syndrome |
|
Aortic regurgitation, Syndactyly, Patent ductus arteriosus, Increased susceptibility to fractures... |
ORPHA:79094 |
Hyperinsulinism Due To Hnf1A Deficiency |
|
Tachycardia, Ketotic hypoglycemia, Maternal diabetes, Maturity-onset diabetes of the young, React... |
ORPHA:324575 |
X-Linked Dominant Chondrodysplasia Punctata |
|
Abnormally ossified vertebrae, Short stature, Flexion contracture, Neonatal epiphyseal stippling,... |
ORPHA:35173 |
Mohr-Tranebjaerg Syndrome |
|
Tremor, Dystonia, Increased susceptibility to fractures |
OMIM:304700 |
Frank-Ter Haar Syndrome |
|
Osteopenia, Bowing of the long bones, Delayed cranial suture closure, Metatarsus adductus, Wide a... |
OMIM:249420 |
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome |
|
Joint laxity, Broad-based gait, Diabetes mellitus, Hypoglycemia, Down-sloping shoulders, Proporti... |
ORPHA:391408 |
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures |
|
Delayed proximal femoral epiphyseal ossification, Flexion contracture, Metaphyseal widening, Larg... |
OMIM:271640 |
Coenzyme Q10 Deficiency, Primary, 8 |
|
Respiratory distress, Postnatal growth retardation, Flexion contracture, Elevated circulating cre... |
OMIM:616733 |
Distal Renal Tubular Acidosis |
|
Hypocitraturia, Bone pain, Renal cyst, Reduced bone mineral density, Nephrocalcinosis, Aminoacidu... |
ORPHA:18 |
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections |
|
Decreased circulating IgG level, Asthma, Increased circulating IgE level, Recurrent pneumonia, Br... |
OMIM:619752 |
Marbach-Rustad Progeroid Syndrome |
|
Femur fracture, Short stature, Insulin resistance, Reduced bone mineral density, Right bundle bra... |
OMIM:619322 |
Schimke Immunoosseous Dysplasia |
|
Osteopenia, Elevated circulating thyroid-stimulating hormone concentration, Abnormal T cell morph... |
OMIM:242900 |
Craniofaciofrontodigital Syndrome |
|
Osteopenia, Joint laxity, Gastrointestinal hemorrhage, Persistent fetal circulation, Short statur... |
ORPHA:363705 |
Antley-Bixler Syndrome |
|
Arachnodactyly, Camptodactyly of finger, Recurrent fractures, Craniosynostosis, Joint stiffness, ... |
ORPHA:83 |
Classic Pantothenate Kinase-Associated Neurodegeneration |
|
Generalized dystonia, Inability to walk, Opisthotonus, Increased susceptibility to fractures, Tip... |
ORPHA:216866 |
Bardet-Biedl Syndrome 16 |
|
Respiratory distress, Renal insufficiency, Short stature, Stage 5 chronic kidney disease, Renal c... |
OMIM:615993 |
Lysinuric Protein Intolerance |
|
Osteopenia, Decreased HDL cholesterol concentration, Decreased response to growth hormone stimula... |
ORPHA:470 |
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Ureteral duplication, Apnea, Elevated circulating creatine kinase concentration, Knee flexion con... |
OMIM:608836 |
Idiopathic Bronchiectasis |
|
Crackles, Productive cough, Dyspnea, Wheezing, Abnormal respiratory system physiology, Bronchiect... |
ORPHA:60033 |
Combined Oxidative Phosphorylation Deficiency 30 |
|
Respiratory distress, Death in infancy |
OMIM:616974 |
Odontochondrodysplasia |
|
Respiratory distress, Death in infancy, Bowing of the long bones, Short stature, Coxa valga, Pate... |
ORPHA:166272 |
Thyroid Lymphoma |
|
Respiratory distress, Dyspnea, Stridor, Upper airway obstruction |
ORPHA:97285 |
Combined Oxidative Phosphorylation Deficiency 52 |
|
Death in infancy, Renal insufficiency, Hypoglycemia, Elevated circulating creatine kinase concent... |
OMIM:619386 |
Insulin-Like Growth Factor I Deficiency |
|
Osteopenia, Decreased serum insulin-like growth factor 1, Short stature, Elevated circulating gro... |
OMIM:608747 |
Mucopolysaccharidosis-Plus Syndrome |
|
Respiratory distress, Metaphyseal widening, Flexion contracture, Leukopenia, Hypoalbuminemia, Dea... |
OMIM:617303 |
Chronic Visceral Acid Sphingomyelinase Deficiency |
|
Osteopenia, Decreased HDL cholesterol concentration, Abnormal bleeding, Short stature, Ataxia, Au... |
ORPHA:77293 |
Interstitial Lung Disease 2 |
|
Dyspnea, Cough, Decreased DLCO, Pulmonary arterial hypertension, Exertional dyspnea |
OMIM:178500 |
Kenny-Caffey Syndrome, Type 1 |
|
Delayed closure of the anterior fontanelle, Proportionate short stature, Hypomagnesemia, Delayed ... |
OMIM:244460 |
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 1 |
|
Osteopenia, Joint laxity, Long toe, Bowing of the long bones, Arachnodactyly, Recurrent fractures... |
OMIM:130070 |
Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction |
|
Short stature, Recurrent fractures, Rickets, Stage 5 chronic kidney disease, Renal Fanconi syndro... |
OMIM:268315 |
Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy |
|
Osteopenia, Contractures of the large joints, Elevated circulating creatine kinase concentration,... |
ORPHA:329178 |
Osteopetrosis, Autosomal Dominant 1 |
|
Generalized osteosclerosis, Abnormal pelvic girdle bone morphology, Osteopetrosis, Calvarial oste... |
OMIM:607634 |
Endocardial Fibroelastosis |
|
Hypoplasia of penis, Sandal gap, Hypoglycemia, Congestive heart failure, Restrictive cardiomyopat... |
ORPHA:2022 |
Cinca Syndrome |
|
Joint dislocation, Brachydactyly, Abnormality of neutrophils, Delayed closure of the anterior fon... |
ORPHA:1451 |
Osteootohepatoenteric Syndrome |
|
Proteinuria, Recurrent fractures, Avascular necrosis of the capital femoral epiphysis, Asthma, Gr... |
OMIM:619377 |
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome |
|
Neonatal death, Respiratory insufficiency |
OMIM:601612 |
Surfactant Metabolism Dysfunction, Pulmonary, 2 |
|
Respiratory distress, Nonspecific interstitial pneumonia, Spontaneous pneumothorax, Reduced force... |
OMIM:610913 |
Medium Chain Acyl-Coa Dehydrogenase Deficiency |
|
Elevated urinary 3-hydroxybutyric acid, Dicarboxylic aciduria, Ataxia, Elevated circulating creat... |
ORPHA:42 |
Hyperinsulinemic Hypoglycemia, Familial, 2 |
|
Pancreatic islet-cell hyperplasia, Hypoglycemia, Hyperinsulinemic hypoglycemia |
OMIM:601820 |
Meier-Gorlin Syndrome 1 |
|
Respiratory distress, Genu recurvatum, Flexion contracture, Flat glenoid fossa, Cutaneous finger ... |
OMIM:224690 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Snyder-Robinson Type |
|
Hyperextensibility of the finger joints, Broad-based gait, Short stature, Recurrent fractures, Lo... |
OMIM:309583 |
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome |
|
Respiratory distress |
ORPHA:91130 |
Sapho Syndrome |
|
Osteomyelitis, Recurrent fractures, Abnormal sacroiliac joint morphology, Craniofacial osteoscler... |
ORPHA:793 |
Hyperinsulinemic Hypoglycemia, Familial, 7 |
|
Hypoglycemia, Hyperinsulinemia, Hypoglycemic seizures, Pancreatic islet-cell hyperplasia, Hyperin... |
OMIM:610021 |
Multiple Endocrine Neoplasia Type 1 |
|
Pituitary corticotropic cell adenoma, Pituitary gonadotropic cell adenoma, Pancreatic endocrine t... |
ORPHA:652 |
Congenital Diaphragmatic Hernia |
|
Respiratory distress, Hypoxemia |
ORPHA:2140 |
Congenital Pulmonary Lymphangiectasia |
|
Respiratory distress, Chronic pulmonary obstruction, Cough, Pulmonary arterial hypertension, Pleu... |
ORPHA:2414 |
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function |
|
Large posterior fontanelle, Ectopic posterior pituitary, Decreased response to growth hormone sti... |
ORPHA:226307 |
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency |
|
Cardiomyopathy, Hypoglycemia |
OMIM:609016 |
Hajdu-Cheney Syndrome |
|
Osteopenia, Bone pain, Decreased skull ossification, Partial absence of toe, Hypospadias, Short s... |
ORPHA:955 |
Mitochondrial Complex I Deficiency, Nuclear Type 19 |
|
Hypoglycemia, Inability to walk, Respiratory insufficiency, Athetosis, Gait disturbance, Loss of ... |
OMIM:618241 |
Malaria |
|
Respiratory distress |
ORPHA:673 |
Mitochondrial Dna Depletion Syndrome, Myopathic Form |
|
Respiratory distress, Respiratory insufficiency due to muscle weakness, Recurrent pneumonia, Resp... |
ORPHA:254875 |
Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency |
|
Respiratory distress, Respiratory failure requiring assisted ventilation, Ventilator dependence w... |
ORPHA:254864 |
Rajab Interstitial Lung Disease With Brain Calcifications 1 |
|
Osteopenia, Tachypnea, Reduced bone mineral density, Hypoalbuminemia, Hypocalcemia, Cough, Emphys... |
OMIM:613658 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 4 |
|
Increased urine succinate level, Hypoglycemia, Apnea, Congestive heart failure, Decreased plasma ... |
OMIM:619048 |
Glycogen Storage Disease Vi |
|
Hypertriglyceridemia, Hypoglycemia, Postnatal growth retardation, Hyperlipidemia, Hypercholestero... |
OMIM:232700 |
Multiple Myeloma |
|
Osteopenia, Hypercalcemia, Increased circulating IgA level, Splenomegaly, Nephropathy, Elevated c... |
ORPHA:29073 |
Surfactant Metabolism Dysfunction, Pulmonary, 5 |
|
Dyspnea, Respiratory insufficiency, Exertional dyspnea |
OMIM:614370 |
Weill-Marchesani Syndrome 1 |
|
Short stature, Proportionate short stature, Joint stiffness, Broad metatarsal, Patent ductus arte... |
OMIM:277600 |
Mucopolysaccharidosis Type 3 |
|
Craniofacial hyperostosis, Ataxia, Joint stiffness, Avascular necrosis of the capital femoral epi... |
ORPHA:581 |
Moebius Syndrome |
|
Respiratory distress, Syndactyly, Brachydactyly, Hypogonadotropic hypogonadism, Split hand, Micro... |
OMIM:157900 |
Multiple Pterygium Syndrome, Lethal Type |
|
Joint dislocation, Vertebral fusion, Multiple pterygia, Akinesia, Flexion contracture, Increased ... |
OMIM:253290 |
Classic Homocystinuria |
|
Gastrointestinal hemorrhage, Arachnodactyly, Recurrent fractures, Pulmonary embolism, Joint stiff... |
ORPHA:394 |
3-Methylglutaconic Aciduria, Type Viib |
|
Abnormal bleeding, Respiratory distress, Dystonia, Rhizomelia, Ataxia, Neonatal hypoglycemia, Tre... |
OMIM:616271 |
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency |
|
Decreased circulating cortisol level, Adrenal calcification, Adrenal hypoplasia, Renal salt wasti... |
ORPHA:289548 |
Farber Disease |
|
Respiratory distress, Abnormality of the knee, Short stature, Thrombocytopenia, Short toe, Flexio... |
ORPHA:333 |
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency |
|
Decreased circulating cortisol level, Adrenal hypoplasia, Renal salt wasting, Neonatal hypoglycem... |
ORPHA:168558 |
Osteopathia Striata-Cranial Sclerosis Syndrome |
|
Increased bone mineral density, Severe short stature, Large fontanelles, High iliac wing, Aortic ... |
ORPHA:2780 |
Addison Disease |
|
Normocytic anemia, Decreased circulating cortisol level, Adrenal calcification, Adrenal hypoplasi... |
ORPHA:85138 |
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria) |
|
Death in infancy, Neonatal respiratory distress, Hypoglycemia, Lacticaciduria, Methylmalonic acid... |
OMIM:245400 |
Staphylococcal Necrotizing Pneumonia |
|
Respiratory distress, Pneumonia, Nonproductive cough, Dyspnea, Tachypnea, Pneumothorax, Acute inf... |
ORPHA:36238 |
Meconium Aspiration Syndrome |
|
Respiratory distress, Neonatal asphyxia, Wheezing, Pneumothorax, Hypoxemia, Aspiration pneumonia,... |
ORPHA:70588 |
Congenital Disorder Of Glycosylation, Type Iu |
|
Respiratory distress, Death in infancy, Neonatal respiratory distress |
OMIM:615042 |
Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency |
|
Unsteady gait, Hypoglycemia, Anemia |
OMIM:610090 |
Cutis Laxa, Autosomal Recessive, Type Iib |
|
Osteopenia, Bowing of the long bones, Congenital hip dislocation, Large fontanelles, Wormian bone... |
OMIM:612940 |
Spinal Muscular Atrophy With Congenital Bone Fractures 2 |
|
Neonatal respiratory distress, Multiple prenatal fractures, Patent ductus arteriosus, Flexion con... |
OMIM:616867 |
Primary Fanconi Renotubular Syndrome |
|
Bicarbonaturia, Bone pain, Low-molecular-weight proteinuria, Hypophosphatemic rickets, Hypouricem... |
ORPHA:3337 |
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency |
|
Hypertriglyceridemia, Short stature, Elevated circulating creatine kinase concentration, Ketotic ... |
ORPHA:79240 |
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome |
|
Nonproductive cough, Dyspnea, Chronic pulmonary obstruction, Wheezing, Bronchiectasis, Inspirator... |
ORPHA:79127 |
Multiple Pterygium Syndrome, X-Linked |
|
Joint dislocation, Vertebral fusion, Multiple pterygia, Flexion contracture, Increased susceptibi... |
OMIM:312150 |
Gomez-Lopez-Hernandez Syndrome |
|
Short stature, Decreased response to growth hormone stimulation test, Craniosynostosis, Ataxia, W... |
OMIM:601853 |
Dihydrolipoamide Dehydrogenase Deficiency |
|
Increased serum pyruvate, Ataxia, Hypoglycemia, Death in childhood, Dystonia, Hypertrophic cardio... |
OMIM:246900 |
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency |
|
Tachycardia, Maternal diabetes, Hyperinsulinemia, Hypoglycemic seizures, Syncope, Type I diabetes... |
ORPHA:276580 |
Weill-Marchesani Syndrome 2 |
|
Short metacarpal, Short stature, Proportionate short stature, Joint stiffness, Broad metatarsal, ... |
OMIM:608328 |
Hemochromatosis, Type 1 |
|
Arthropathy, Diabetes mellitus, Hypogonadotropic hypogonadism, Congestive heart failure, Splenome... |
OMIM:235200 |
Larsen-Like Syndrome, Lethal Type |
|
Tracheomalacia, Neonatal death, Respiratory insufficiency |
OMIM:245650 |
Dentin Dysplasia With Sclerotic Bones |
|
Cortical sclerosis |
OMIM:125440 |
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 1 |
|
Osteopenia, Arthropathy, Patent ductus arteriosus, Limitation of joint mobility, Osteoporosis, Cl... |
OMIM:259100 |
Mgat2-Cdg |
|
Osteopenia, Abnormal bleeding, Impaired lymphocyte transformation with phytohemagglutinin, Respir... |
ORPHA:79329 |
Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Hypoglycemia, Elevated circulating creatine kinase concentration, Elevated circulating acylcarnit... |
ORPHA:26791 |
Mandibuloacral Dysplasia |
|
Hypertriglyceridemia, Increased circulating free fatty acid level, Postnatal growth retardation, ... |
ORPHA:2457 |
Epiphyseal Dysplasia, Multiple, With Early-Onset Diabetes Mellitus |
|
Ivory epiphyses of the phalanges of the hand, Short stature, Osteoporosis, Cone-shaped epiphyses ... |
OMIM:226980 |
Solitary Fibrous Tumor |
|
Hypoglycemia, Reduced C-peptide level, Recurrent hypoglycemia, Urinary retention, Hypophosphatemi... |
ORPHA:2126 |
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency |
|
Tachycardia, Hyperinsulinemia, Hypoglycemic seizures, Decreased circulating free fatty acid level... |
ORPHA:276575 |
Glycerol Kinase Deficiency |
|
Adrenocortical hypoplasia, Increased urinary glycerol, Hypertriglyceridemia, Short stature, Hyper... |
OMIM:307030 |
Autosomal Dominant Kenny-Caffey Syndrome |
|
Stenosis of the medullary cavity of the long bones, Short stature, Delayed cranial suture closure... |
ORPHA:93325 |
Hyperinsulinemic Hypoglycemia, Familial, 8 |
|
Short stature, Hypoglycemia, Elevated circulating thyroid-stimulating hormone concentration, Hype... |
OMIM:620211 |
Wiskott-Aldrich Syndrome |
|
Abnormal eosinophil morphology, Sinusitis, Microcytic anemia, Intracranial hemorrhage, Hypoplasia... |
ORPHA:906 |
Acute Lung Injury |
|
Respiratory distress, Pneumonia, Dyspnea, Tachypnea, Hypoxemia, Respiratory failure |
ORPHA:178320 |
Ossification Anomalies-Psychomotor Developmental Delay Syndrome |
|
Postnatal growth retardation, Metaphyseal widening, Large fontanelles, Triangular shaped distal p... |
ORPHA:73230 |
Hypoinsulinemic Hypoglycemia With Hemihypertrophy |
|
Neonatal hypoglycemia, Hypoglycemia, Hypoinsulinemia, Fasting hypoglycemia |
OMIM:240900 |
Autoimmune Hypoparathyroidism |
|
Prolonged QT interval, Calcium nephrolithiasis, Increased bone mineral density, Autoimmune hypopa... |
ORPHA:36913 |
Hyperinsulinism Due To Ucp2 Deficiency |
|
Tachycardia, Reactive hypoglycemia, Hypoglycemic seizures, Decreased circulating free fatty acid ... |
ORPHA:276556 |
Familial Papillary Or Follicular Thyroid Carcinoma |
|
Recurrent fractures, Follicular thyroid carcinoma, Bone pain, Papillary thyroid carcinoma, Nodula... |
ORPHA:319487 |
Ciliary Dyskinesia, Primary, 2 |
|
Respiratory distress, Sinusitis, Bronchiectasis, Immotile cilia, Ciliary dyskinesia |
OMIM:606763 |
Fanconi-Bickel Syndrome |
|
Hyperphosphaturia, Ketonuria, Proteinuria, Osteomalacia, Hypouricemia, Postnatal growth retardati... |
OMIM:227810 |
Marshall-Smith Syndrome |
|
Large sternal ossification centers, Apnea, Accelerated skeletal maturation, Distal widening of me... |
OMIM:602535 |
Hajdu-Cheney Syndrome |
|
Osteopenia, Joint laxity, Hypospadias, Short stature, Patent ductus arteriosus, Osteoporosis, Foo... |
OMIM:102500 |
Dysostosis, Stanescu Type |
|
Bowing of the long bones, Increased bone mineral density, Persistent open anterior fontanelle, Wo... |
ORPHA:1798 |
Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Short stature, Hyperlipidemia, Flexion contracture, Limitation of joint mobility, Osteolysis, Lar... |
ORPHA:90153 |
Rhyns Syndrome |
|
Osteopenia, Renal insufficiency, Radial bowing, Short stature, Decreased response to growth hormo... |
OMIM:602152 |
Surfactant Metabolism Dysfunction, Pulmonary, 1 |
|
Death in infancy, Neonatal respiratory distress, Apnea, Dyspnea, Tachypnea, Respiratory failure, ... |
OMIM:265120 |
3-Hydroxy-3-Methylglutaryl-Coa Synthase Deficiency |
|
Hypoglycemia |
ORPHA:35701 |
Choanal Atresia |
|
Respiratory distress, Craniosynostosis, Upper airway obstruction, Polydactyly, Tracheomalacia, Ch... |
ORPHA:137914 |
Congenital Disorder Of Glycosylation, Type Iy |
|
Respiratory distress |
OMIM:300934 |
Cerebrotendinous Xanthomatosis |
|
Osteopenia, Resting tremor, Somatic sensory dysfunction, Ataxia, Abnormal tibia morphology, Abnor... |
ORPHA:909 |
Avian Influenza |
|
Respiratory distress, Miscarriage, Pneumonia, Productive cough, Nonproductive cough, Dyspnea, Tac... |
ORPHA:454836 |
Paget Disease Of Bone 6 |
|
Nephrocalcinosis, Osteoarthritis, Bone pain, Recurrent fractures |
OMIM:616833 |
Arthrogryposis, Distal, Type 2A |
|
Joint dislocation, Hip contracture, Flexion contracture of finger, Recurrent fractures, Shoulder ... |
OMIM:193700 |
Rin2 Syndrome |
|
Hypergonadotropic hypogonadism, Increased susceptibility to fractures, Bruising susceptibility, J... |
ORPHA:217335 |
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency |
|
Hypertriglyceridemia, Short stature, Hypoglycemia |
ORPHA:366 |
Infantile-Onset X-Linked Spinal Muscular Atrophy |
|
Respiratory distress, Hip contracture, Interphalangeal joint contracture of finger, Ankle flexion... |
ORPHA:1145 |
Non-Acquired Panhypopituitarism |
|
Osteopenia, Ectopic posterior pituitary, Ectopic anterior pituitary gland, Hypogonadotropic hypog... |
ORPHA:90695 |
Mitochondrial Complex I Deficiency, Nuclear Type 33 |
|
Hypospadias, Hypoglycemia, Apnea, Bronchiectasis, Hyperammonemia, Respiratory insufficiency, Aspi... |
OMIM:618253 |
Idiopathic Hypereosinophilic Syndrome |
|
Myelofibrosis, Respiratory distress, Pulmonary embolism, Intracranial hemorrhage, Cough, Neutroph... |
ORPHA:3260 |
Brachydactyly, Type B1 |
|
Type B brachydactyly, Vertebral fusion, Syndactyly, Aplasia/Hypoplasia of the distal phalanges of... |
OMIM:113000 |
Campomelic Dysplasia |
|
Respiratory distress, Apnea, Anterior tibial bowing, Delayed epiphyseal ossification, Patellar hy... |
OMIM:114290 |
Hyperoxaluria, Primary, Type I |
|
Hyperoxaluria, Increased bone mineral density, Renal insufficiency, Calcium oxalate nephrolithias... |
OMIM:259900 |
Neuropathy, Hereditary Sensory And Autonomic, Type V |
|
Arthropathy, Impaired vibratory sensation, Pain insensitivity, Osteomyelitis, Recurrent fractures... |
OMIM:608654 |
Fructose And Galactose Intolerance |
|
Hypoglycemia |
OMIM:229500 |
Dyskeratosis Congenita |
|
Diabetes mellitus, Telangiectasia of the skin, Recurrent fractures, Abnormality of neutrophils, S... |
ORPHA:1775 |
Van Maldergem Syndrome 1 |
|
Osteopenia, Joint laxity, Short fourth metatarsal, Wide cranial sutures, Hypospadias, Wide anteri... |
OMIM:601390 |
Kaposiform Lymphangiomatosis |
|
Epidural hemorrhage, Abnormal femur morphology, Cough, Ecchymosis, Abnormal bleeding, Hepatosplen... |
ORPHA:464329 |
Anaplastic Thyroid Carcinoma |
|
Respiratory distress, Dyspnea, Upper airway obstruction, Stridor, Cough |
ORPHA:142 |
Glucocorticoid Deficiency 3 |
|
Recurrent hypoglycemia |
OMIM:609197 |
Congenital Disorder Of Glycosylation, Type Ix |
|
Respiratory distress, Death in childhood |
OMIM:615597 |
Primary Hyperoxaluria |
|
Hyperoxaluria, Recurrent fractures, Aciduria, Calcium oxalate nephrolithiasis, Heart block, Gener... |
ORPHA:416 |
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 6 |
|
Respiratory distress, Paradoxical respiration, Plantar flexion contracture, Arthrogryposis-like h... |
OMIM:620011 |
Hallermann-Streiff Syndrome |
|
Recurrent fractures, Proportionate short stature, Congestive heart failure, Small hand, Abnormali... |
ORPHA:2108 |
Camptodactyly-Arthropathy-Coxa-Vara-Pericarditis Syndrome |
|
Pericarditis, Camptodactyly of finger, Wrist swelling, Polyarticular arthropathy, Bone cyst, Knee... |
ORPHA:2848 |
Gaucher Disease, Type I |
|
Pancytopenia, Epistaxis, Hypersplenism, Thrombocytopenia, Splenomegaly, Dyspnea, Bone pain, Hyper... |
OMIM:230800 |
Glycogen Storage Disease Due To Acid Maltase Deficiency |
|
Respiratory distress, Orthopnea, Transient ischemic attack, Elevated circulating creatine kinase ... |
ORPHA:365 |
Ehlers-Danlos Syndrome, Dermatosparaxis Type |
|
Osteopenia, Joint laxity, Short stature, Spontaneous neonatal pneumothorax, Delayed closure of th... |
OMIM:225410 |
N-Acetylglutamate Synthase Deficiency |
|
Respiratory distress |
OMIM:237310 |
Ritscher-Schinzel Syndrome 3 |
|
Hypoplasia of the ulna, Death in infancy, Postnatal growth retardation, Wide anterior fontanel, U... |
OMIM:619135 |
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities |
|
Respiratory distress, Overlapping toe, Inability to walk, Delayed skeletal maturation, Flexion co... |
OMIM:619383 |
Arterial Tortuosity Syndrome |
|
Respiratory distress, Myocardial infarction, Coxa vara, Clinodactyly of the 5th finger, Arachnoda... |
ORPHA:3342 |
Desbuquois Dysplasia 2 |
|
Metaphyseal widening, Knee dislocation, Short phalanx of finger, Genu varum, Joint laxity, Short ... |
OMIM:615777 |
Mitochondrial Pyruvate Carrier Deficiency |
|
Respiratory distress |
OMIM:614741 |
Congenital Insensitivity To Pain With Severe Intellectual Disability |
|
Pain insensitivity, Osteomyelitis, Rocker bottom foot, Recurrent fractures, Tibial bowing, Impair... |
ORPHA:453510 |
Potocki-Shaffer syndrome |
|
Delayed cranial suture closure |
DECIPHER:34 |
Homozygous 11P15-P14 Deletion Syndrome |
|
Renal tubular dysfunction, Hyperinsulinemia, Generalized aminoaciduria, Hypoglycemia |
OMIM:606528 |
Methylcobalamin Deficiency Type Cble |
|
Syndactyly, Macrocytic anemia, Pancytopenia, Hypomethioninemia, Hemolytic-uremic syndrome, Postna... |
ORPHA:2169 |
Combined Osteogenesis Imperfecta And Ehlers-Danlos Syndrome 2 |
|
Joint dislocation, Short stature, Recurrent fractures, Arterial rupture, Bruising susceptibility,... |
OMIM:619120 |
Coccidioidomycosis |
|
Respiratory distress, Abnormality of the spleen, Abnormal long bone morphology, Increased circula... |
ORPHA:228123 |
Pycnodysostosis |
|
Increased bone mineral density, Persistent open anterior fontanelle, Short stature, Aplastic clav... |
OMIM:265800 |
Interstitial Lung Disease 1 |
|
Nonspecific interstitial pneumonia, Crackles, Dyspnea, Restrictive ventilatory defect, Cough, Dec... |
OMIM:619611 |
Idiopathic Neonatal Atrial Flutter |
|
Respiratory distress, Tachypnea |
ORPHA:45452 |
Pseudohypoparathyroidism Type 1B |
|
Prolonged QT interval, Calcinosis, Increased bone mineral density, Short stature, Cortical subper... |
ORPHA:94089 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3 |
|
Osteopenia, Hypoplasia of the ulna, Ureteral stenosis, Hydroureter, Ataxia, Patent ductus arterio... |
OMIM:615398 |
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type) |
|
Respiratory distress, Pain insensitivity, Broad-based gait, Short stature, Ataxia, Hypoglycemia, ... |
OMIM:256810 |
Porphyria, Congenital Erythropoietic |
|
Osteopenia, Hemolytic anemia, Short stature, Splenomegaly, Red urine, Osteolysis, Elevated circul... |
OMIM:263700 |
Schwartz-Jampel Syndrome |
|
Apnea, Elevated circulating creatine kinase concentration, Coxa vara, Wrist flexion contracture, ... |
ORPHA:800 |
Spondyloocular Syndrome |
|
Osteopenia, Long toe, Arachnodactyly, Femur fracture, Overlapping toe, Short stature, Long finger... |
OMIM:605822 |
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome |
|
Tachycardia, Reactive hypoglycemia, Tremor, Hyperinsulinemia, Pancreatic islet-cell hyperplasia, ... |
ORPHA:276608 |
Familial Papillary Thyroid Carcinoma With Renal Papillary Neoplasia |
|
Recurrent fractures, Papillary thyroid carcinoma, Nodular goiter, Chronic lung disease, Goiter |
ORPHA:97290 |
Lowe Oculocerebrorenal Syndrome |
|
Elevated circulating creatine kinase concentration, Wrist swelling, Bicarbonaturia, Aminoaciduria... |
OMIM:309000 |
Erdheim-Chester Disease |
|
Increased bone mineral density, Osteomyelitis, Hypogonadotropic hypogonadism, Renal insufficiency... |
ORPHA:35687 |
Autosomal Recessive Cutis Laxa Type 1 |
|
Joint laxity, Abnormal cardiac ventricular function, Severe short stature, Congestive heart failu... |
ORPHA:90349 |
Neonatal Hemochromatosis |
|
Increased circulating ferritin concentration, Increased serum iron, Hypoglycemia |
ORPHA:446 |
Mulibrey Nanism |
|
Short stature, Congestive heart failure, Growth delay, Intrauterine growth retardation, Thickened... |
OMIM:253250 |
Hypoparathyroidism-Retardation-Dysmorphism Syndrome |
|
Decreased response to growth hormone stimulation test, Patchy osteosclerosis, Decreased circulati... |
OMIM:241410 |
Spondyloepiphyseal Dysplasia-Brachydactyly And Distinctive Speech |
|
Short metacarpal, Single interphalangeal crease of fifth finger, Hypoplastic iliac wing, Postnata... |
OMIM:611717 |
Osteogenesis Imperfecta, Type Vi |
|
Joint laxity, Protrusio acetabuli, Coxa vara, Increased susceptibility to fractures |
OMIM:613982 |
Osteoporosis-Pseudoglioma Syndrome |
|
Osteopenia, Short stature, Recurrent fractures, Metaphyseal widening, Osteoporosis, Increased sus... |
OMIM:259770 |
Adamantinoma |
|
Pathologic fracture, Bone pain, Hypercalcemia |
ORPHA:55881 |
Progressive Supranuclear Palsy-Parkinsonism Syndrome |
|
Respiratory distress |
ORPHA:240085 |
Isolated Thyroid-Stimulating Hormone Deficiency |
|
Decreased thyroid-stimulating hormone level, Large posterior fontanelle, Delayed cranial suture c... |
ORPHA:90674 |
Cutis Laxa, Autosomal Recessive, Type Iiia |
|
Wide cranial sutures, Congenital hip dislocation, Short stature, Hypoargininemia, Delayed skeleta... |
OMIM:219150 |
Tyrosinemia, Type I |
|
Gastrointestinal hemorrhage, Hypertyrosinemia, Renal insufficiency, Hypoglycemia, Elevated circul... |
OMIM:276700 |
Mitochondrial Complex I Deficiency, Nuclear Type 9 |
|
Neonatal death, Hypoventilation, Breathing dysregulation |
OMIM:618232 |
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction |
|
Respiratory distress, Neonatal respiratory distress, Crackles, Asthma, Tachypnea, Wheezing, Hypox... |
OMIM:610978 |
Craniosynostosis 6 |
|
Delayed cranial suture closure, Craniosynostosis, Right unilambdoid synostosis, Spina bifida occu... |
OMIM:616602 |
Auriculocondylar Syndrome 2A |
|
Respiratory distress, Apnea |
OMIM:614669 |
Nipah Virus Disease |
|
Respiratory distress, Cough |
ORPHA:99825 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 3 |
|
Alaninuria, Hypoglycemia |
OMIM:615158 |
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia |
|
Respiratory distress, Death in infancy, Tachypnea, Respiratory insufficiency, Respiratory failure |
OMIM:614299 |
Wilson Disease |
|
Splenomegaly, Bone pain, Anemia, Arthritis, Joint swelling, Difficulty walking, Pathologic fractu... |
ORPHA:905 |
Glycogen Storage Disease Iii |
|
Short stature, Elevated circulating creatine kinase concentration, Hypoglycemia, Hyperlipidemia, ... |
OMIM:232400 |
X-Linked Centronuclear Myopathy |
|
Respiratory distress, Respiratory failure requiring assisted ventilation, Pneumonia |
ORPHA:596 |
Van Maldergem Syndrome 2 |
|
Osteopenia, Joint laxity, Short fourth metatarsal, Wide cranial sutures, Hypospadias, Wide anteri... |
OMIM:615546 |
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2 |
|
Respiratory distress, Respiratory insufficiency due to muscle weakness |
OMIM:613561 |
Oculocerebrorenal Syndrome Of Lowe |
|
Hyperparathyroidism, Hypoammonemia, Oligosacchariduria, Nephrocalcinosis, Aminoaciduria, Hyponatr... |
ORPHA:534 |
Lowry-Maclean Syndrome |
|
Osteopenia, Hypospadias, Craniosynostosis, Osteoporosis, Growth delay, Small anterior fontanelle,... |
ORPHA:2409 |
Osteopetrosis With Renal Tubular Acidosis |
|
Pancytopenia, Short stature, Recurrent fractures, Elevated circulating creatine kinase concentrat... |
ORPHA:2785 |
Microcephaly, Short Stature, And Impaired Glucose Metabolism 2 |
|
Short stature, Down-sloping shoulders, Kinetic tremor, Delayed skeletal maturation, Renal hypopla... |
OMIM:616817 |
Pseudohypoparathyroidism Type 1A |
|
Decreased response to growth hormone stimulation test, Reduced circulating prolactin concentratio... |
ORPHA:79443 |
Rnf13-Related Severe Early-Onset Epileptic Encephalopathy |
|
Respiratory distress, Tapered finger, Delayed skeletal maturation, Flexion contracture, Hyperexte... |
ORPHA:544503 |
Metaphyseal Chondromatosis With D-2-Hydroxyglutaric Aciduria |
|
Respiratory distress, Multiple joint contractures, Metaphyseal widening, D-2-hydroxyglutaric acid... |
ORPHA:99646 |
De Barsy Syndrome |
|
Osteopenia, Congenital hip dislocation, Short stature, Delayed closure of the anterior fontanelle... |
ORPHA:2962 |
Ear-Patella-Short Stature Syndrome |
|
Respiratory distress, Hypoplasia of penis, Severe short stature, Hypospadias, Camptodactyly of fi... |
ORPHA:2554 |
Tetanus |
|
Respiratory distress, Tachycardia, Stiff neck, Elevated circulating creatine kinase concentration... |
ORPHA:3299 |
Bacterial Toxic-Shock Syndrome |
|
Respiratory distress, Sinusitis, Elevated circulating creatine kinase concentration, Tachypnea, I... |
ORPHA:36234 |
Dubowitz Syndrome |
|
Aplasia/Hypoplasia of the thumb, Abnormality of thumb phalanx, Abnormality of neutrophils, Clinod... |
ORPHA:235 |
Microcephalic Osteodysplastic Primordial Dwarfism, Type Iii |
|
Hip contracture, Severe short stature, Hypospadias, Delayed cranial suture closure, Severe genera... |
OMIM:210730 |
Hyperparathyroidism, Neonatal Severe |
|
Calcinosis, Hyperphosphaturia, Recurrent fractures, Polyuria, Hypercalcemia, Splenomegaly, Dyspne... |
OMIM:239200 |
Combined Oxidative Phosphorylation Deficiency 34 |
|
Pancytopenia, Hypergonadotropic hypogonadism, Hypoglycemia, Elevated circulating thyroid-stimulat... |
OMIM:617872 |
Lathosterolosis |
|
Toe syndactyly, Increased mean platelet volume, Acanthocytosis, Postaxial hand polydactyly, Schis... |
OMIM:607330 |
Pseudohypoparathyroidism Type 1C |
|
Decreased response to growth hormone stimulation test, Reduced circulating prolactin concentratio... |
ORPHA:79444 |
Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Respiratory distress, Hypoglycemia, Glutaric aciduria, Wide anterior fontanel, Generalized aminoa... |
OMIM:231680 |
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0 |
|
Respiratory distress, Renal insufficiency, Dystonia, Chorea, Hyperammonemia, Renal tubular dysfun... |
ORPHA:289916 |
Dominant Beta-Thalassemia |
|
Extramedullary hematopoiesis, Anisocytosis, Hypothyroidism, Hypoparathyroidism, High-output conge... |
ORPHA:231226 |
Achondroplasia |
|
Respiratory distress, Death in infancy, Brachydactyly, Radial bowing, Limited hip extension, Shor... |
OMIM:100800 |
Hemochromatosis, Neonatal |
|
Abnormal bleeding, Hypoglycemia, Increased circulating ferritin concentration, Hepatocellular nec... |
OMIM:231100 |
Isolated Atp Synthase Deficiency |
|
Respiratory distress, Short stature, Ataxia, Dilated cardiomyopathy, Renal hypoplasia, Hyperammon... |
ORPHA:254913 |
Diffuse Cutaneous Systemic Sclerosis |
|
Renal insufficiency, Telangiectasia of the skin, Congestive heart failure, Dyspnea, Flexion contr... |
ORPHA:220393 |
Pomt1-Related Limb-Girdle Muscular Dystrophy R11 |
|
Respiratory distress, Dyspnea, Cough |
ORPHA:86812 |
Hsd10 Mitochondrial Disease |
|
Elevated circulating tiglylglycine concentration, Hypertrophic cardiomyopathy, Hypoglycemia, Chor... |
OMIM:300438 |
Kenny-Caffey Syndrome, Type 2 |
|
Hypoparathyroidism, Transient hypophosphatemia, Increased bone mineral density, Severe short stat... |
OMIM:127000 |
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome |
|
Severe B lymphocytopenia, Cough, Intrauterine growth retardation, Decreased circulating IgG level... |
OMIM:620005 |
Cole-Carpenter Syndrome |
|
Crumpled long bones, Bowing of the long bones, Short stature, Recurrent fractures, Joint hyperfle... |
ORPHA:2050 |
Slc35A1-Cdg |
|
Respiratory distress, Pneumonia, Hypoxemia |
ORPHA:238459 |
Ulna Hypoplasia-Intellectual Disability Syndrome |
|
Hypoplasia of the ulna, Broad hallux phalanx, Severe short stature, Joint stiffness, Metatarsus a... |
ORPHA:2249 |
Combined Pituitary Hormone Deficiencies, Genetic Forms |
|
Osteopenia, Ectopic posterior pituitary, Decreased response to growth hormone stimulation test, A... |
ORPHA:95494 |
X-Linked Intellectual Disability, Snyder Type |
|
Long toe, Arachnodactyly, Recurrent fractures, Hypospadias, Ectopic kidney, Short stature, Inabil... |
ORPHA:3063 |
Craniopharyngioma |
|
Enlarged pituitary gland, Hypogonadotropic hypogonadism, Neoplasm of the anterior pituitary, Myoc... |
ORPHA:54595 |
Pyruvate Dehydrogenase E3 Deficiency |
|
Increased urine alpha-ketoglutarate concentration, Abnormal cardiac ventricular function, Elevate... |
ORPHA:2394 |
Insulin-Resistance Syndrome Type B |
|
Osteoarthritis, Fasting hyperinsulinemia, Leukopenia, Glucose intolerance, Increased circulating ... |
ORPHA:2298 |
Leigh Syndrome |
|
Multiple joint contractures, Chorea, Choreoathetosis, Complex organic aciduria, Neutropenia, Atax... |
ORPHA:506 |
Occipital Horn Syndrome |
|
Osteopenia, Coxa vara, Humerus varus, Short palm, Large iliac wing, Abnormality of the wrist, Ost... |
ORPHA:198 |
Severe Congenital Nemaline Myopathy |
|
Hypospadias, Multiple prenatal fractures, Flexion contracture, Large fontanelles, Respiratory fai... |
ORPHA:171430 |
Renin-Angiotensin-Aldosterone System-Blocker-Induced Angioedema |
|
Respiratory distress, Upper airway obstruction |
ORPHA:100057 |
Hypothyroidism, Congenital, Nongoitrous, 6 |
|
Broad-based gait, Congenital hip dislocation, Delayed skeletal maturation, Increased T3/T4 ratio,... |
OMIM:614450 |
Combined Oxidative Phosphorylation Deficiency 10 |
|
Hypoglycemia, Hyperammonemia, Pleural effusion, Bradycardia, Dystonia, Hyperalaninemia, Hypertrop... |
OMIM:614702 |
Infant Acute Respiratory Distress Syndrome |
|
Pneumonia, Nasal flaring, Tachypnea, Hypoxemia, Respiratory failure |
ORPHA:70587 |
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut- |
|
Respiratory distress, Renal insufficiency, Dystonia, Splenomegaly, Hyperammonemia, Anemia, Cardio... |
ORPHA:79312 |
Silver-Russell Syndrome Due To 7P11.2P13 Microduplication |
|
Prominent fingertip pads, Short stature, Hypoglycemia, Postnatal growth retardation, Delayed skel... |
ORPHA:231137 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 23 |
|
Death in infancy, Hypoventilation, Hypoglycemia, Elbow contracture, Knee contracture, Intrauterin... |
OMIM:620275 |
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures |
|
Ataxia, Hypoglycemia, Tremor, Dysmetria, Cardiomyopathy, Athetosis, Dystonia, Intrauterine growth... |
OMIM:617710 |
Intellectual Developmental Disorder With Macrocephaly, Seizures, And Speech Delay |
|
Recurrent hypoglycemia, Unsteady gait, Gait ataxia |
OMIM:618158 |
Silver-Russell Syndrome 2 |
|
Short stature, Delayed closure of the anterior fontanelle, Delayed skeletal maturation, 2-3 toe s... |
OMIM:618905 |
3-Methylglutaconic Aciduria Type 4 |
|
Cardiomyopathy, 3-Methylglutaconic aciduria, Hypoglycemia, Thrombocytopenia |
ORPHA:67048 |
Folinic Acid-Responsive Seizures |
|
Respiratory distress, Broad-based gait, Ataxia, Apnea, Chorea, Difficulty walking, Dystonia |
ORPHA:79097 |
Laryngotracheoesophageal Cleft |
|
Neonatal respiratory distress, Dyspnea, Stridor, Cough, Aspiration |
ORPHA:2004 |
Reni Syndrome |
|
Diffuse mesangial sclerosis, Hypertriglyceridemia, Proteinuria, Ataxia, Hypoglycemia, Stage 5 chr... |
OMIM:617575 |
Fgfr2-Related Bent Bone Dysplasia |
|
Osteopenia, Extramedullary hematopoiesis, Hypoplastic ischia, Bowing of the legs, Metopic depress... |
ORPHA:313855 |
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans |
|
Respiratory distress, Brain abscess, Central apnea, Severe short stature, Rhizomelia, Urinary inc... |
OMIM:616482 |
Mixed Connective Tissue Disease |
|
Gastrointestinal hemorrhage, Prolonged bleeding time, Pericarditis, Hemolytic anemia, Joint stiff... |
ORPHA:809 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 9 |
|
Postnatal growth retardation, Hypoglycemia |
OMIM:616111 |
Brown-Vialetto-Van Laere Syndrome 1 |
|
Respiratory distress, Respiratory failure requiring assisted ventilation, Dyspnea, Respiratory in... |
OMIM:211530 |
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence |
|
Respiratory distress, Syndactyly, Neonatal respiratory distress, Hypospadias, Proximal placement ... |
OMIM:217980 |
Hypoglossia With Situs Inversus |
|
Respiratory distress, Upper airway obstruction |
OMIM:612776 |
Osteogenesis Imperfecta, Type Xv |
|
Bowing of limbs due to multiple fractures, Short stature, Recurrent fractures, Joint hypermobility |
OMIM:615220 |
Acth-Independent Macronodular Adrenal Hyperplasia 2 |
|
Increased urinary cortisol level, Decreased circulating ACTH concentration, Osteoporosis, Hyperte... |
OMIM:615954 |
Combined Oxidative Phosphorylation Defect Type 39 |
|
Leg dystonia, Congenital foot contractures, Ankle clonus, Tip-toe gait, Bradycardia, Loss of ambu... |
ORPHA:565624 |
Beta-Thalassemia Major |
|
Extramedullary hematopoiesis, Hypothyroidism, Hypoparathyroidism, Anemia of inadequate production... |
ORPHA:231214 |
Combined Malonic And Methylmalonic Acidemia |
|
Dicarboxylic acidemia, Methylmalonic acidemia, Dicarboxylic aciduria, Hypoglycemia, Methylmalonic... |
ORPHA:289504 |
Mandibuloacral Dysplasia Progeroid Syndrome |
|
Osteopenia, Tricuspid regurgitation, Sandal gap, Proteinuria, Elevated hemoglobin A1c, Joint stif... |
OMIM:619127 |
Silver-Russell Syndrome 1 |
|
Syndactyly, Urethral valve, Hypospadias, Decreased response to growth hormone stimulation test, D... |
OMIM:180860 |
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 11 |
|
Clinodactyly of the 5th finger, Intrauterine growth retardation, Hypoglycemia |
ORPHA:231147 |
Marburg Hemorrhagic Fever |
|
Elevated circulating creatine kinase concentration, Nonproductive cough, Leukopenia, Hypoalbumine... |
ORPHA:99826 |
Smith-Kingsmore Syndrome |
|
Rhizomelia, Hypoglycemia, Short proximal phalanx of finger, Wide anterior fontanel, Decreased cir... |
OMIM:616638 |
Combined Oxidative Phosphorylation Deficiency 47 |
|
Toe syndactyly, Hypoglycemia, Cone-shaped epiphyses of the distal phalanges of the hand, Short pa... |
OMIM:618958 |
Pyridoxal Phosphate-Responsive Seizures |
|
Pyridoxine-responsive sideroblastic anemia, Hypoglycemia, Abnormal circulating glycine concentrat... |
ORPHA:79096 |
Celiac Disease, Susceptibility To, 1 |
|
Macrocytic anemia, Short stature, Ataxia, Postnatal growth retardation, Osteoporosis, Rickets, Th... |
OMIM:212750 |
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy) |
|
Respiratory distress |
OMIM:612075 |
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency |
|
Methylmalonic acidemia, Respiratory distress, Hypoglycemia, Cerebellar hemorrhage, Stage 5 chroni... |
OMIM:251000 |
Pigmented Nodular Adrenocortical Disease, Primary, 1 |
|
Osteopenia, Increased urinary cortisol level, Decreased circulating dehydroepiandrosterone concen... |
OMIM:610489 |
Osteofibrous Dysplasia, Susceptibility To |
|
Pathologic fracture, Pseudoarthrosis, Fibular hypoplasia |
OMIM:607278 |
Carnitine Deficiency, Systemic Primary |
|
Respiratory distress, Dicarboxylic aciduria, Elevated circulating creatine kinase concentration, ... |
OMIM:212140 |
Lujo Hemorrhagic Fever |
|
Respiratory distress, Stiff neck, Elevated circulating C-reactive protein concentration, Crackles... |
ORPHA:319213 |
2P21 Microdeletion Syndrome |
|
Hypoglycemia, Nephrolithiasis, Cystinuria, Growth delay, Hypogonadism, Hypocalcemia |
ORPHA:163693 |
Insulinoma |
|
Nonketotic hypoglycemia, Reactive hypoglycemia, Tremor, Abnormality of the pancreatic islet cells... |
ORPHA:97279 |
Myotubular Myopathy With Abnormal Genital Development |
|
Respiratory distress, Death in infancy, Neonatal death |
OMIM:300219 |
Combined Oxidative Phosphorylation Deficiency 40 |
|
Death in infancy, Decreased circulating cortisol level, Hypoglycemia, Elevated circulating creati... |
OMIM:618835 |
Combined Oxidative Phosphorylation Deficiency 42 |
|
Death in infancy, Decreased circulating cortisol level, Hypoglycemia, Elevated circulating creati... |
OMIM:618839 |
Faciocardiomelic Syndrome |
|
Osteopenia, Dysharmonic bone age, Slender long bone, Polydactyly, Hypoplastic pelvis, Thin bony c... |
OMIM:612731 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 5 |
|
Increased serum pyruvate, Hypoglycemia, Episodic tachypnea, Hyperammonemia, Elevated circulating ... |
OMIM:615160 |
Congenital Disorder Of Deglycosylation 1 |
|
Hyperalaninemia, Respiratory distress, Pain insensitivity, Elevated circulating alpha-fetoprotein... |
OMIM:615273 |
Short Stature-Wormian Bones-Dextrocardia Syndrome |
|
Short stature, Camptodactyly of finger, Patent ductus arteriosus, Midshaft hypospadias, Wormian b... |
ORPHA:2863 |
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Respiratory distress, Flexion contracture, Leukopenia, Hypoalbuminemia, Decreased circulating IgG... |
ORPHA:505248 |
Gitelman Syndrome |
|
Respiratory distress, Urinary incontinence, Maternal diabetes, Decreased urinary potassium, Tubul... |
ORPHA:358 |
Imperforate Oropharynx-Costovertebral Anomalies Syndrome |
|
Respiratory distress, Arachnodactyly, Dyspnea, Joint hyperflexibility, Respiratory failure, Clino... |
ORPHA:2759 |
Severe Generalized Junctional Epidermolysis Bullosa |
|
Urethral stricture, Respiratory distress, Abnormal blood ion concentration, Renal cyst, Ureteroce... |
ORPHA:79404 |
Dyggve-Melchior-Clausen Disease |
|
Metaphyseal widening, Flat glenoid fossa, Short metatarsal, Femoral bowing, Tibial bowing, Narrow... |
OMIM:223800 |
Fibrochondrogenesis 1 |
|
Hypoplastic scapulae, Broad long bones, Rhizomelia, Dumbbell-shaped long bone, Hypoplastic ischia... |
OMIM:228520 |
Craniosynostosis 2 |
|
Craniosynostosis, Unicoronal synostosis, Triphalangeal thumb, Metopic synostosis, Wormian bones, ... |
OMIM:604757 |
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities |
|
Short stature, Hypoglycemia, Precocious puberty, Insulin-resistant diabetes mellitus, Long penis,... |
OMIM:262190 |
Craniotubular Dysplasia, Ikegawa Type |
|
Metaphyseal dysplasia, Short stature, Broad femoral neck, Broad ischia, Diaphyseal dysplasia, Scl... |
OMIM:619727 |
Mitochondrial Trifunctional Protein Deficiency 2 |
|
Death in infancy, Tricuspid regurgitation, Increased circulating NT-proBNP concentration, Recurre... |
OMIM:620300 |
Hyperinsulinism-Hyperammonemia Syndrome |
|
Increased urine alpha-ketoglutarate concentration, Reactive hypoglycemia, Fasting hyperinsulinemi... |
ORPHA:35878 |
Gaucher Disease, Perinatal Lethal |
|
Respiratory distress, Petechiae, Apnea, Akinesia, Thrombocytopenia, Splenomegaly, Hepatosplenomeg... |
OMIM:608013 |
Pyridoxine-Dependent Epilepsy |
|
Neonatal asphyxia, Neonatal respiratory distress, Hypoglycemia |
ORPHA:3006 |
Cryptococcosis |
|
Respiratory distress, Lymphoid leukemia, Osteomyelitis, Pneumonia, Dyspnea, Osteolysis, Cough, Pl... |
ORPHA:1546 |
Melnick-Needles Syndrome |
|
Short humerus, Hypoplastic scapulae, Ureteral stenosis, Coxa valga, Flared metaphysis, Hip disloc... |
OMIM:309350 |
Polyendocrine-Polyneuropathy Syndrome |
|
Hypogonadotropic hypogonadism, Anterior pituitary hypoplasia, Ataxia, Hypoglycemia, Postnatal gro... |
ORPHA:453533 |
Glycogen Storage Disease 0, Liver |
|
Postprandial hyperglycemia, Neonatal hypoglycemia, Fasting hypoglycemia |
OMIM:240600 |
Congenital Disorder Of Glycosylation, Type Ig |
|
Respiratory distress, Short humerus, Short femur, Sandal gap, Hypospadias, Rhizomelia, Hypoglycem... |
OMIM:607143 |
Sanjad-Sakati Syndrome |
|
Hypoparathyroidism, Hypoplasia of penis, Short stature, Patchy osteosclerosis, Postnatal growth r... |
ORPHA:2323 |
Temple Syndrome |
|
Short stature, Decreased response to growth hormone stimulation test, Precocious puberty, Postnat... |
ORPHA:254516 |
Timothy Syndrome |
|
Prolonged QT interval, Hypoglycemia, Pneumonia, Patent ductus arteriosus, Ventricular tachycardia... |
OMIM:601005 |
Otopalatodigital Syndrome, Type Ii |
|
Congenital hip dislocation, Elbow contracture, Short metatarsal, Femoral bowing, Tibial bowing, S... |
OMIM:304120 |
Spondyloepimetaphyseal Dysplasia, X-Linked, With Hypomyelinating Leukodystrophy |
|
Wormian bones, Short stature, Ataxia, Metaphyseal widening, Flexion contracture, Delayed skeletal... |
OMIM:300232 |
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly |
|
Respiratory distress, Short metacarpal, Brachydactyly, Sandal gap, Short stature, Postaxial polyd... |
OMIM:617102 |
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency |
|
Prolonged QT interval, Abnormal circulating acylcarnitine concentration, Dicarboxylic aciduria, P... |
ORPHA:71212 |
Progressive Supranuclear Palsy-Corticobasal Syndrome |
|
Respiratory distress |
ORPHA:240103 |
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome |
|
Congenital hip dislocation, Ataxia, Hypoglycemia, Wide anterior fontanel, Unsteady gait, Contract... |
ORPHA:457279 |
Acquired Methemoglobinemia |
|
Respiratory distress, Dyspnea, Hypoxemia |
ORPHA:464453 |
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration |
|
Ketonuria, Ataxia, Cardiac arrest, Premature thelarche, Elevated circulating creatine kinase conc... |
OMIM:616878 |
Muscular Dystrophy, Congenital, With Or Without Seizures |
|
Respiratory distress, Ataxia, Elevated circulating creatine kinase concentration, Respiratory fai... |
OMIM:620166 |
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability |
|
Osteopenia, Respiratory distress, Congenital hip dislocation, Joint laxity, Short stature, Tapere... |
ORPHA:480880 |
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria |
|
Methylmalonic acidemia, Short humerus, Respiratory distress, Short femur, Hypospadias, Hypoglycem... |
ORPHA:17 |
Silver-Russell Syndrome Due To A Point Mutation |
|
Syndactyly, Hypospadias, Hypoglycemia, Postnatal growth retardation, Asthma, Short 5th finger, Po... |
ORPHA:397590 |
Spinal Muscular Atrophy With Congenital Bone Fractures 1 |
|
Neonatal respiratory distress, Multiple prenatal fractures, Congestive heart failure, Patent duct... |
OMIM:616866 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 12 |
|
Death in infancy, Hypoglycemia, Elevated circulating creatine kinase concentration, Intraventricu... |
OMIM:619055 |
Inhalational Anthrax |
|
Respiratory distress, Dyspnea |
ORPHA:247257 |
3-Methylglutaconic Aciduria With Deafness, Encephalopathy, And Leigh-Like Syndrome |
|
Hypoglycemia, Inability to walk, Hyperammonemia, 3-Methylglutaconic aciduria, Dystonia, Hyperalan... |
OMIM:614739 |
Microcephaly, Epilepsy, And Diabetes Syndrome 1 |
|
Osteopenia, Diabetes mellitus, Hypogonadism, Pathologic fracture, Moderate albuminuria |
OMIM:614231 |
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome |
|
Respiratory distress, Hypertension, Craniosynostosis |
ORPHA:1555 |
Apert Syndrome |
|
Limited elbow movement, Delayed epiphyseal ossification, Cutaneous finger syndactyly, Broad dista... |
OMIM:101200 |
3-Methylcrotonyl-Coa Carboxylase Deficiency |
|
Hypoglycemia, Hyperammonemia, Respiratory insufficiency, Abnormal circulating leucine concentrati... |
ORPHA:6 |
Alg9-Cdg |
|
Prominent metopic ridge, Tricuspid regurgitation, Rhizomelia, Ureteral hypoplasia, Delayed crania... |
ORPHA:79328 |
Lenz-Majewski Hyperostotic Dwarfism |
|
Hyperextensibility of the finger joints, Anterior pituitary hypoplasia, Knee flexion contracture,... |
OMIM:151050 |
Brain-Lung-Thyroid Syndrome |
|
Thyroid dysgenesis, Respiratory distress, Chorea, Elevated circulating thyroid-stimulating hormon... |
ORPHA:209905 |
Malonyl-Coa Decarboxylase Deficiency |
|
Neonatal respiratory distress, Short stature, Left ventricular noncompaction cardiomyopathy, Hypo... |
OMIM:248360 |
Hsd10 Disease, Infantile Type |
|
Hypoglycemia, Hyperammonemia, Choreoathetosis, Dystonia, Loss of ambulation, Hypertrophic cardiom... |
ORPHA:391428 |
Beare-Stevenson Cutis Gyrata Syndrome |
|
Respiratory distress, Overlapping toe, Hypospadias, Craniosynostosis, Hypertension, Limited elbow... |
OMIM:123790 |
Isobutyryl-Coa Dehydrogenase Deficiency |
|
Dicarboxylic aciduria, Ketotic hypoglycemia, Elevated circulating acylcarnitine concentration, Di... |
ORPHA:79159 |
Schinzel-Giedion Midface Retraction Syndrome |
|
Increased density of long bones, Tibial bowing, Opisthotonus, Micropenis, Ureteral stenosis, Hypo... |
OMIM:269150 |
Fructose-1,6-Bisphosphatase Deficiency |
|
Respiratory distress, Tachycardia, Increased urinary glycerol, Hypoglycemia, Episodic tachypnea, ... |
ORPHA:348 |
Microbrachycephaly-Ptosis-Cleft Lip Syndrome |
|
Brachydactyly, Severe short stature, Abnormality of the wrist, Abnormal thumb morphology, Abnorma... |
ORPHA:2511 |
Tularemia |
|
Respiratory distress, Brain abscess, Tachycardia, Pneumonia, Leukocytosis, Anemia, Increased circ... |
ORPHA:3392 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 2 |
|
Respiratory distress, Death in infancy, Inspiratory stridor, Irregular respiration |
OMIM:604377 |
Mucolipidosis Type Ii |
|
Knee flexion contracture, Abnormal long bone morphology, Telangiectases of the cheeks, Prominent ... |
ORPHA:576 |
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy |
|
Joint laxity, Hypoglycemia, Conjugated hyperbilirubinemia, Postnatal growth retardation, Hyperamm... |
OMIM:617093 |
Japanese Encephalitis |
|
Hyponatremia, Respiratory distress, Neutrophilia, Stiff neck, Genu recurvatum, Tremor, Elbow flex... |
ORPHA:79139 |
Congenital Myasthenic Syndrome |
|
Joint laxity, Waddling gait, Congenital hip dislocation, Sudden episodic apnea, Ataxia, Intermitt... |
ORPHA:590 |
Presynaptic Congenital Myasthenic Syndromes |
|
Joint laxity, Waddling gait, Congenital hip dislocation, Sudden episodic apnea, Ataxia, Intermitt... |
ORPHA:98914 |
Propionic Acidemia |
|
Hypoglycemia, Hyperammonemia, Cardiomyopathy, Organic aciduria, Arrhythmia |
ORPHA:35 |
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Respiratory distress, Abnormal blood ion concentration, Tubulointerstitial nephritis, Iron defici... |
ORPHA:37042 |
3-Methylglutaconic Aciduria Type 7 |
|
Renal insufficiency, Pneumothorax, Renal cyst, Opisthotonus, Nephrocalcinosis, Cardiomyopathy, Gr... |
ORPHA:445038 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 3 |
|
Increased serum pyruvate, Death in infancy, Macrocytic anemia, Ataxia, Splenomegaly, Hyperproline... |
OMIM:619046 |
Listeriosis |
|
Respiratory distress, Stiff neck, Liver abscess, Tremor, Abnormal cellular immune system morpholo... |
ORPHA:533 |
Pancreatic And Cerebellar Agenesis |
|
Death in infancy, Diabetes mellitus, Hypoglycemia, Apnea, Joint stiffness, Flexion contracture, S... |
OMIM:609069 |
Tetrasomy 5P |
|
Respiratory distress, Overlapping toe, Short hallux, Postnatal growth retardation, Congestive hea... |
ORPHA:3309 |
Chromosome 16Q22 Deletion Syndrome |
|
Prominent metopic ridge, Broad hallux, Hypospadias, Postnatal growth retardation, Wide anterior f... |
OMIM:614541 |
Congenital Myopathy 2C, Severe Infantile, Autosomal Dominant |
|
Respiratory distress, Death in infancy, Cerebral hemorrhage, Knee contracture, Subdural hemorrhag... |
OMIM:620278 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 22 |
|
3-hydroxydicarboxylic aciduria, Increased urine alpha-ketoglutarate concentration, Elevated circu... |
OMIM:619355 |
Polyendocrine-Polyneuropathy Syndrome |
|
Hypogonadotropic hypogonadism, Anterior pituitary hypoplasia, Elevated hemoglobin A1c, Short stat... |
OMIM:616113 |
Carnitine-Acylcarnitine Translocase Deficiency |
|
Dicarboxylic aciduria, Hypoglycemia, Cardiac arrest, Elevated circulating creatine kinase concent... |
OMIM:212138 |
Congenital Disorder Of Glycosylation, Type It |
|
Tachycardia, Decreased serum insulin-like growth factor 1, Short stature, Elevated circulating cr... |
OMIM:614921 |
Nasolacrimal Duct Cyst |
|
Intercostal retractions, Episodic respiratory distress, Stridor, Paroxysmal dyspnea, Abnormal bre... |
ORPHA:141083 |
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency |
|
Respiratory distress, Portal hypertension, Congestive heart failure, Dilated cardiomyopathy, Flex... |
ORPHA:367 |
Synaptic Congenital Myasthenic Syndromes |
|
Respiratory distress, Abnormality of the knee, Hypoventilation, Neonatal respiratory distress, Wa... |
ORPHA:98915 |
Pyknoachondrogenesis |
|
Craniofacial hyperostosis, Abnormal intramembranous ossification, Short iliac bones, Abnormal ili... |
ORPHA:3003 |
Chitayat Syndrome |
|
Hallux valgus, Respiratory distress, Short stature, Tracheomalacia, Brachydactyly |
OMIM:617180 |
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted |
|
Joint laxity, Respiratory distress, Short stature, Abnormality of thyroid physiology, Postaxial p... |
OMIM:300968 |
Stt3B-Cdg |
|
Respiratory distress |
ORPHA:370924 |
Congenital Disorder Of Glycosylation, Type Iie |
|
Death in infancy, Neurogenic bladder, Short stature, Elevated circulating creatine kinase concent... |
OMIM:608779 |
Schinzel-Giedion Syndrome |
|
Respiratory distress, Renal cyst, Tibial bowing, Myeloid leukemia, Micropenis, Streak ovary, Hypo... |
ORPHA:798 |
Houge-Janssens Syndrome 1 |
|
Intrauterine growth retardation, Congenital hip dislocation, Hypoglycemia, Gait ataxia |
OMIM:616355 |
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis |
|
Decreased circulating cortisol level, Femoral bowing, Micropenis, Decreased circulating renin lev... |
OMIM:201750 |
Aspartylglucosaminuria |
|
Aspartylglucosaminuria, Abnormal morphology of ulna, Joint stiffness, Splenomegaly, Delayed skele... |
ORPHA:93 |
Silver-Russell Syndrome |
|
Sandal gap, Hypospadias, Short stature, Precocious puberty, Postnatal growth retardation, Insulin... |
ORPHA:813 |
Kabuki Syndrome 2 |
|
Joint laxity, Short stature, Postnatal growth retardation, Hip dislocation, Horseshoe kidney, Sho... |
OMIM:300867 |
Congenital Bile Acid Synthesis Defect Type 2 |
|
Dark urine, Extramedullary hematopoiesis, Conjugated hyperbilirubinemia, Postnatal growth retarda... |
ORPHA:79303 |
D-Bifunctional Protein Deficiency |
|
Osteopenia, Splenomegaly, Delayed skeletal maturation, Split hand, Primary adrenal insufficiency,... |
OMIM:261515 |
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency |
|
Respiratory distress, Acute hyperammonemia, Ataxia, Hyperglutaminemia, Hyperammonemia, Cerebral i... |
ORPHA:927 |
Paternal 20Q13.2Q13.3 Microdeletion Syndrome |
|
Respiratory distress |
ORPHA:261304 |
Hallermann-Streiff Syndrome |
|
Wormian bones, Proportionate short stature, Metaphyseal widening, Recurrent pneumonia, Telangiect... |
OMIM:234100 |
Galactokinase Deficiency |
|
Hypergonadotropic hypogonadism, Hypoglycemia, Neonatal asphyxia, Hyperinsulinemia, Hepatosplenome... |
ORPHA:79237 |
Basilicata-Akhtar Syndrome |
|
Neonatal hypoglycemia, Precocious puberty, Short foot, Short palm, Camptodactyly, Adducted thumb |
OMIM:301032 |
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of |
|
Nonketotic hypoglycemia, Death in infancy, Dicarboxylic aciduria, Elevated circulating creatine k... |
OMIM:201475 |
Bannayan-Riley-Ruvalcaba Syndrome |
|
Neoplasm of the adrenal cortex, Angina pectoris, Short stature, Hashimoto thyroiditis, Hypoglycem... |
ORPHA:109 |
Brittle Cornea Syndrome 2 |
|
Bruising susceptibility, Gait disturbance, Recurrent fractures, Joint hypermobility |
OMIM:614170 |
Developmental And Epileptic Encephalopathy 68 |
|
Respiratory distress |
OMIM:618201 |
Shigellosis |
|
Hyponatremia, Hypoglycemia, Abscess, Pneumonia, Hemolytic-uremic syndrome, Myocarditis, Leukocyto... |
ORPHA:810 |
1p36 microdeletion syndrome |
|
Delayed cranial suture closure |
DECIPHER:18 |
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy |
|
Nonketotic hypoglycemia, Increased circulating free fatty acid level, Abnormal circulating insuli... |
ORPHA:293964 |
D-Glyceric Aciduria |
|
Neonatal respiratory distress, Hypoglycemia, Patent ductus arteriosus, Nonketotic hyperglycinemia... |
OMIM:220120 |
Rabson-Mendenhall Syndrome |
|
Fasting hyperinsulinemia, Nephrocalcinosis, Fasting hypoglycemia, Hypothyroidism, Short stature, ... |
ORPHA:769 |
Pyruvate Carboxylase Deficiency |
|
Increased serum pyruvate, Hypoglycemia, Proximal renal tubular acidosis, Athetosis, Hyperalaninemia |
OMIM:266150 |
Congenital Disorder Of Glycosylation, Type Iib |
|
Hypoventilation, Recurrent fractures, Decreased circulating antibody level, Overlapping fingers, ... |
OMIM:606056 |
Orthostatic Hypotension 1 |
|
Orthostatic hypotension, Atrial fibrillation, Reduced circulating prolactin concentration, Neonat... |
OMIM:223360 |
Mercury Poisoning |
|
Respiratory distress, Dyspnea, Respiratory failure, Interstitial pneumonitis |
ORPHA:330021 |
Hemorrhagic Fever-Renal Syndrome |
|
Respiratory distress, Anuria, Acute tubulointerstitial nephritis, Intracranial hemorrhage, Tubulo... |
ORPHA:340 |
Beta-Ketothiolase Deficiency |
|
Ketonuria, Ataxia, Hypoglycemia, Leukocytosis, Tachypnea, Hyperammonemia, Hypertension, Hyperuric... |
ORPHA:134 |
Methylmalonic Acidemia With Homocystinuria, Type Cblc |
|
Respiratory distress, Hypomethioninemia, Pulmonary embolism, Megaloblastic anemia, Hyperhomocysti... |
ORPHA:79282 |
Arboleda-Tham Syndrome |
|
Respiratory distress, Brachydactyly, Neonatal respiratory distress, Sandal gap, Deviation of the ... |
OMIM:616268 |
Dyskeratosis Congenita, Autosomal Dominant 1 |
|
Aplastic anemia, Ataxia, Thrombocytopenia, Dyspnea, Osteoporosis, Hepatic necrosis, Leukopenia, I... |
OMIM:127550 |
Autosomal Dominant Cutis Laxa |
|
Osteopenia, Joint laxity, Aortic regurgitation, Genu recurvatum, Unilateral renal agenesis, Postn... |
ORPHA:90348 |
Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Prolonged QT interval, Respiratory distress, Tachycardia, Elevated circulating creatine kinase co... |
ORPHA:26793 |
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial |
|
Impaired gluconeogenesis, Hypoglycemia |
OMIM:261650 |
Dopamine Beta-Hydroxylase Deficiency |
|
Abnormal EKG, Orthostatic hypotension, Hypoglycemia, Dyspnea, Insulin resistance, Elevated urinar... |
ORPHA:230 |
Lissencephaly Syndrome, Norman-Roberts Type |
|
Respiratory distress, Rocker bottom foot, Intrauterine growth retardation, Hypoplastic spleen, Ad... |
ORPHA:89844 |
Occipital Horn Syndrome |
|
Joint laxity, Short humerus, Orthostatic hypotension, Persistent open anterior fontanelle, Decrea... |
OMIM:304150 |
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14 |
|
Flexion contracture, Tibial bowing, Hypoplastic iliac wing, Small proximal tibial epiphyses, Shor... |
ORPHA:96334 |
Exudative Vitreoretinopathy 1 |
|
Vitreous hemorrhage, Recurrent fractures, Retinal neovascularization |
OMIM:133780 |
Pfeiffer Syndrome Type 3 |
|
Respiratory distress, Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Short hallux, Hall... |
ORPHA:93260 |
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency |
|
Ketonuria, Apnea, Elevated circulating growth hormone concentration, Neonatal hypoglycemia, Multi... |
ORPHA:79644 |
Pyruvate Carboxylase Deficiency |
|
Tremor, Tachypnea, Hyperglycemia, Hypoglutaminemia, Ataxia, Elevated plasma citrulline, Hyperlysi... |
ORPHA:3008 |
Cdags Syndrome |
|
Hypospadias, Sagittal craniosynostosis, Rectourethral fistula, Large fontanelles, Short clavicles... |
OMIM:603116 |
Donohue Syndrome |
|
Precocious puberty, Postnatal growth retardation, Delayed skeletal maturation, Long penis, Hyperi... |
OMIM:246200 |
Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome |
|
Prolonged QT interval, Abnormal EKG, Ketonuria, Ataxia, Elevated circulating creatine kinase conc... |
ORPHA:480864 |
Osteogenesis Imperfecta, Type Xx |
|
Multiple prenatal fractures, Intrauterine growth retardation, Wormian bones, Disproportionate sho... |
OMIM:618644 |
Lateral Meningocele Syndrome |
|
Vertebral fusion, Neurogenic bladder, Short stature, Patent ductus arteriosus, Sclerosis of skull... |
OMIM:130720 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 1 |
|
Respiratory distress, Hyperphosphaturia, Proteinuria, Ataxia, Respiratory insufficiency due to mu... |
OMIM:220110 |
Dilated Cardiomyopathy With Ataxia |
|
Prolonged QT interval, Hypoplasia of penis, Ataxia, Action tremor, Dilated cardiomyopathy, Hypoch... |
ORPHA:66634 |
Hypotonia-Cystinuria Syndrome |
|
Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Postnatal ... |
OMIM:606407 |
2-Methylbutyryl-Coa Dehydrogenase Deficiency |
|
Apneic episodes in infancy, Hypoglycemia, 2-ethylhydracylic aciduria |
OMIM:610006 |
Congenital Tracheomalacia |
|
Neonatal respiratory distress, Apnea, Intercostal retractions, Pneumonia, Productive cough, Dyspn... |
ORPHA:95430 |
Aymé-Gripp Syndrome |
|
Pericarditis, Prominent metopic ridge, Proteinuria, Rocker bottom foot, Craniosynostosis, Tapered... |
ORPHA:1272 |
Neuromuscular Oculoauditory Syndrome |
|
Respiratory distress, Elevated circulating creatine kinase concentration, Unsteady gait, Knee fle... |
OMIM:618733 |
Rubinstein-Taybi Syndrome 1 |
|
Respiratory distress, Premature thelarche, Flexion contracture, Hypoplastic iliac wing, Clinodact... |
OMIM:180849 |
Holocarboxylase Synthetase Deficiency |
|
Respiratory distress, Tachypnea |
ORPHA:79242 |
Riboflavin Deficiency |
|
Elevated circulating acylcarnitine concentration, Dicarboxylic aciduria, Hypoglycemia |
OMIM:615026 |
Mody |
|
Elevated hemoglobin A1c, Transient neonatal diabetes mellitus, Insulin-resistant diabetes mellitu... |
ORPHA:552 |
Saethre-Chotzen Syndrome |
|
Proximal radio-ulnar synostosis, Finger syndactyly, Hallux valgus, Short stature, Craniosynostosi... |
ORPHA:794 |
Dermatitis Herpetiformis |
|
Bone pain, Recurrent fractures, Microcytic anemia |
ORPHA:1656 |
Acute Adrenal Insufficiency |
|
Normocytic anemia, Decreased circulating cortisol level, Myocardial infarction, Adrenal hypoplasi... |
ORPHA:95409 |
Wrinkly Skin Syndrome |
|
Osteopenia, Congenital hip dislocation, Short stature, Delayed closure of the anterior fontanelle... |
ORPHA:2834 |
Congenital Enterovirus Infection |
|
Abnormal bleeding, Respiratory distress, Abnormal macrophage morphology, Myocarditis, Leukocytosi... |
ORPHA:292 |
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7 |
|
Syndactyly, Narrow joint spaces of the elbow, Hypospadias, Decreased response to growth hormone s... |
ORPHA:96182 |
Pituitary Hormone Deficiency, Combined, 2 |
|
Decreased thyroid-stimulating hormone level, Short stature, Reduced circulating prolactin concent... |
OMIM:262600 |
Cataract-Growth Hormone Deficiency-Sensory Neuropathy-Sensorineural Hearing Loss-Skeletal Dysplasia Syndrome |
|
Short stature, Decreased response to growth hormone stimulation test, Hip dislocation, Genu valgu... |
ORPHA:436174 |
Pfeiffer Syndrome Type 2 |
|
Respiratory distress, Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Short hallux, Hall... |
ORPHA:93259 |
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency |
|
Increased level of hippuric acid in urine, Hypoglycemia, Glutaric aciduria, Hyperammonemia, Anemi... |
OMIM:246450 |
Simpson-Golabi-Behmel Syndrome |
|
Bundle branch block, Ureteral duplication, Congenital hip dislocation, Hypoplasia of penis, Accel... |
ORPHA:373 |
Craniosynostosis-Anal Anomalies-Porokeratosis Syndrome |
|
Large posterior fontanelle, Hypospadias, Tarsal synostosis, Aplastic clavicle, Wide anterior font... |
ORPHA:85199 |
Microcephalic Osteodysplastic Primordial Dwarfism, Type I |
|
Delayed epiphyseal ossification, Flexion contracture, Preaxial polydactyly, Renal cyst, Knee flex... |
OMIM:210710 |
Cocaine Intoxication |
|
Respiratory distress, Prolonged QRS complex, Elevated circulating creatine kinase concentration, ... |
ORPHA:90068 |
Sifrim-Hitz-Weiss Syndrome |
|
Renal insufficiency, Wormian bones, Hypogonadotropic hypogonadism, Short stature, Tapered finger,... |
OMIM:617159 |
Hypoadrenocorticism, Familial |
|
Hyponatremia, Hypoglycemia, Apnea, Adrenal hypoplasia, Hyperkalemia, Adrenal insufficiency |
OMIM:240200 |
Generalized Arterial Calcification Of Infancy |
|
Respiratory distress, Abnormality of the knee, Hyperphosphaturia, Transient ischemic attack, Oste... |
ORPHA:51608 |
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency |
|
Hyponatremia, Decreased circulating cortisol level, Penoscrotal hypospadias, Hypospadias, Neonata... |
ORPHA:90791 |
Glycogen Storage Disease Ixb |
|
Short stature, Hypoglycemia, Splenomegaly, Growth delay, Hyperuricemia |
OMIM:261750 |
Glycogen Storage Disease Ic |
|
Renal insufficiency, Proteinuria, Cyclic neutropenia, Spider hemangioma, Hypoglycemia, Hyperlipid... |
OMIM:232240 |
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome |
|
Respiratory distress, Severe B lymphocytopenia, Overlapping toe, Arachnodactyly, Postnatal growth... |
ORPHA:83617 |
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion |
|
Respiratory distress, Hypoventilation, Apnea, Recurrent pneumonia, Aspiration pneumonia |
ORPHA:314655 |
Lateral Meningocele Syndrome |
|
Wormian bones, Joint hyperflexibility, Prominent metopic ridge, Craniofacial hyperostosis |
ORPHA:2789 |
Histidinuria-Renal Tubular Defect Syndrome |
|
Impaired histidine renal tubular absorption, Hypoglycemia, Histidinuria, Delayed skeletal maturat... |
ORPHA:2158 |
Keppen-Lubinsky Syndrome |
|
Postnatal growth retardation, Dyspnea, Flexion contracture, Recurrent pneumonia, Upper airway obs... |
ORPHA:435628 |
Neurodevelopmental Disorder With Hypotonia, Dysmorphic Facies, And Skeletal Anomalies, With Or Without Seizures |
|
Pain insensitivity, Torticollis, Broad hallux, Hypoglycemia, Tapered finger, Short thumb, Inabili... |
OMIM:620224 |
Glycogen Storage Disease Ixa1 |
|
Hypertriglyceridemia, Hypoglycemia, Splenomegaly, Growth delay, Hyperuricemia, Hypercholesterolemia |
OMIM:306000 |
Episodic Ataxia Type 1 |
|
Respiratory distress |
ORPHA:37612 |
Camptodactyly Syndrome, Guadalajara Type 3 |
|
Osteopenia, Delayed skeletal maturation, Small hand, Short foot, Micropenis, Spina bifida occulta... |
ORPHA:488434 |
Congenital Factor X Deficiency |
|
Gastrointestinal hemorrhage, Epistaxis, Subarachnoid hemorrhage, Joint hemorrhage, Prolonged blee... |
ORPHA:328 |
Immunodeficiency, Common Variable, 10 |
|
Hypoglycemia, Decreased response to growth hormone stimulation test, Asthma, Recurrent pneumonia,... |
OMIM:615577 |
Cholera |
|
Hyponatremia, Tachycardia, Abnormality of renal excretion, Miscarriage, Hypoglycemia, Tachypnea, ... |
ORPHA:173 |
Deeah Syndrome |
|
Decreased hemoglobin concentration, Death in infancy, Neonatal respiratory distress, Short statur... |
OMIM:619004 |
Congenital Myopathy 22B, Severe Fetal |
|
Respiratory distress, Hip contracture, Waddling gait, Limb joint contracture, Shoulder flexion co... |
OMIM:620369 |
Combined Oxidative Phosphorylation Deficiency 36 |
|
Hyperalaninemia, Hypoglycemia, Aciduria |
OMIM:617950 |
Holoprosencephaly |
|
Hyponatremia, Hypoplasia of penis, Diabetes mellitus, Proteinuria, Hypoglycemia, Anterior hypopit... |
ORPHA:2162 |
Glutaryl-Coa Dehydrogenase Deficiency |
|
Joint dislocation, Dystonia, Ataxia, Tremor, Glutaric aciduria, Chorea, Chronic kidney disease, S... |
ORPHA:25 |
Potocki-Shaffer Syndrome |
|
Wormian bones, 2-5 finger cutaneous syndactyly, Micropenis, Brachydactyly |
OMIM:601224 |
Carnitine-Acylcarnitine Translocase Deficiency |
|
Dicarboxylic aciduria, Elevated creatine kinase after exercise, Sudden episodic apnea, Elevated c... |
ORPHA:159 |
Curry-Jones Syndrome |
|
Wormian bones, Duplication of thumb phalanx, Unicoronal synostosis, Preaxial hand polydactyly, 2-... |
OMIM:601707 |
Grange Syndrome |
|
Syndactyly, Recurrent fractures, Renovascular hypertension, Increased susceptibility to fractures... |
OMIM:602531 |
Combined Oxidative Phosphorylation Deficiency 41 |
|
Decreased circulating cortisol level, Hypoglycemia, Elevated circulating creatine kinase concentr... |
OMIM:618838 |
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency |
|
Hyperlipidemia, Short stature, Hyperuricemia, Hypoglycemia |
ORPHA:364 |
Sotos Syndrome |
|
Joint laxity, Accelerated skeletal maturation, Patent ductus arteriosus, Long metacarpals, Genu v... |
OMIM:117550 |
Diarrhea 13 |
|
Recurrent hypoglycemia, Hypoalbuminemia |
OMIM:620357 |
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency |
|
Hyponatremia, Decreased circulating cortisol level, Hypoglycemia, Renal salt wasting, Precocious ... |
OMIM:614736 |
Q Fever |
|
Respiratory distress, Pericarditis, Osteomyelitis, Pneumonia, Myocarditis, Thrombocytopenia, Vasc... |
ORPHA:781 |
Yunis-Varon Syndrome |
|
Aplasia of the distal phalanges of the hand, Abnormal finger morphology, Aplasia of the 1st metac... |
ORPHA:3472 |
Carnitine Palmitoyltransferase Ii Deficiency, Infantile |
|
Elevated circulating creatine kinase concentration, Dilated cardiomyopathy, Ventricular tachycard... |
OMIM:600649 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 11 |
|
Hypoglycemia, Hyperammonemia |
OMIM:620137 |
Robinow Syndrome, Autosomal Recessive 1 |
|
Nephrocalcinosis, Short palm, Micropenis, Duplication of the distal phalanx of hand, Dislocated r... |
OMIM:268310 |
Triosephosphate Isomerase Deficiency |
|
Normocytic anemia, Hemolytic anemia, Macrocytic anemia, Death in infancy, Respiratory distress, T... |
OMIM:615512 |
Crimean-Congo Hemorrhagic Fever |
|
Bundle branch block, Stiff neck, Elevated circulating creatine kinase concentration, Abnormal lef... |
ORPHA:99827 |
3-Hydroxy-3-Methylglutaric Aciduria |
|
Nonketotic hypoglycemia, Ketonuria, Ataxia, Cardiac arrest, Apnea, Leukocytosis, Dilated cardiomy... |
ORPHA:20 |
Neurofibromatosis Type 1 |
|
Short stature, Recurrent fractures, Ataxia, Joint stiffness, Abnormality of the endocrine system,... |
ORPHA:636 |
Mitochondrial Trifunctional Protein Deficiency |
|
Hypoparathyroidism, Tricuspid regurgitation, Equinus calcaneus, Congestive heart failure, Respira... |
ORPHA:746 |
Sepsis In Premature Infants |
|
Abnormal bleeding, Tachycardia, Abnormal mucociliary clearance, Elevated circulating C-reactive p... |
ORPHA:90051 |
Wrinkly Skin Syndrome |
|
Osteopenia, Congenital hip dislocation, Short stature, Delayed cranial suture closure, Delayed cl... |
OMIM:278250 |
Glucocorticoid Resistance, Generalized |
|
Hypoglycemia, Increased circulating ACTH level, Hypertension, Increased circulating cortisol leve... |
OMIM:615962 |
Mitochondrial Complex I Deficiency, Nuclear Type 20 |
|
Death in infancy, Dicarboxylic aciduria, Hypoglycemia, Congestive heart failure, Dilated cardiomy... |
OMIM:611126 |
Carnitine Palmitoyl Transferase 1A Deficiency |
|
Hypoglycemia, Sudden cardiac death, Renal tubular acidosis, Arrhythmia, Transient hyperlipidemia,... |
ORPHA:156 |
Blue Diaper Syndrome |
|
Hypercalcemia, Elevated circulating thyroid-stimulating hormone concentration, Increased proinsul... |
ORPHA:94086 |
Ehlers-Danlos Syndrome, Arthrochalasia Type, 2 |
|
Hallux valgus, Hyperextensibility of the finger joints, Hip dislocation, Bladder diverticulum, Jo... |
OMIM:617821 |
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency |
|
Adrenal hyperplasia, Hypospadias, Hypoglycemia, Renal salt wasting, Adrenogenital syndrome, Hyper... |
OMIM:201910 |
Hypermobile Ehlers-Danlos Syndrome |
|
Joint dislocation, Apnea, Abnormality of the wrist, Elbow dislocation, Osteoarthritis, Limitation... |
ORPHA:285 |
Acyl-Coa Dehydrogenase 9 Deficiency |
|
Nonketotic hypoglycemia, Dicarboxylic aciduria, Elevated creatine kinase after exercise, Sudden c... |
ORPHA:99901 |
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency |
|
Decreased circulating cortisol level, Neonatal hypoglycemia, Renal salt wasting, Accelerated skel... |
ORPHA:90794 |
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9 |
|
Respiratory distress, Death in infancy, Neonatal respiratory distress, Apnea, Hypopnea, Death in ... |
OMIM:618426 |
Rhabdoid Tumor |
|
Hypercalcemia, Respiratory insufficiency, Hematuria, Hypertension, Anemia, Internal hemorrhage, T... |
ORPHA:69077 |
Restrictive Dermopathy 2 |
|
Respiratory distress |
OMIM:619793 |
Pituitary Hormone Deficiency, Combined, 6 |
|
Decreased thyroid-stimulating hormone level, Ectopic posterior pituitary, Short stature, Hypoglyc... |
OMIM:613986 |
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly |
|
Respiratory distress, Respiratory failure |
OMIM:617895 |
Isolated Complex I Deficiency |
|
Increased serum pyruvate, Diabetes mellitus, Ataxia, Hypoglycemia, Respiratory insufficiency, Pro... |
ORPHA:2609 |
Combined Oxidative Phosphorylation Deficiency 19 |
|
Respiratory distress, Stridor |
OMIM:615595 |
Sheehan Syndrome |
|
Hyponatremia, Orthostatic hypotension, Decreased circulating cortisol level, Hypoglycemia, Reduce... |
ORPHA:91355 |
Acute Liver Failure |
|
Hepatic necrosis, Hepatocellular necrosis, Intracranial hemorrhage, Hyperventilation, Abnormal bl... |
ORPHA:90062 |
Pmm2-Cdg |
|
Osteopenia, Respiratory distress, Multiple joint contractures, Elevated circulating thyroid-stimu... |
ORPHA:79318 |
Ornithine Transcarbamylase Deficiency |
|
Splenomegaly, Aminoaciduria, Hypoglycemia, Hyperammonemia |
ORPHA:664 |
Cog8-Cdg |
|
Spontaneous hematomas, Prolonged prothrombin time, Ataxia, Hypoglycemia |
ORPHA:95428 |
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies |
|
Hypoglycemia, Tapered finger, Precocious puberty, Hip dislocation, Genu valgum, Hepatosplenomegal... |
OMIM:301066 |
Costello Syndrome |
|
Hyperextensibility of the finger joints, Renal insufficiency, Short stature, Hypoglycemia, Limite... |
OMIM:218040 |
Chromosome 6Q24-Q25 Deletion Syndrome |
|
Persistent fetal circulation, Respiratory distress, Tricuspid regurgitation, Sandal gap, Patent d... |
OMIM:612863 |
Agnathia-Otocephaly Complex |
|
Respiratory distress, Tracheomalacia |
OMIM:202650 |
Oculocerebrofacial Syndrome, Kaufman Type |
|
Respiratory distress, Dyspnea, Respiratory failure |
ORPHA:2707 |
Restrictive Dermopathy 1 |
|
Ureteral duplication, Limb joint contracture, Rocker bottom foot, Adrenal hypoplasia, Hypospadias... |
OMIM:275210 |
Myotonic Dystrophy 1 |
|
Respiratory distress |
OMIM:160900 |
Familial Glucocorticoid Deficiency |
|
Decreased circulating dehydroepiandrosterone concentration, Hyponatremia, Decreased circulating c... |
ORPHA:361 |
Aica-Ribosuria Due To Atic Deficiency |
|
Elevated urinary 5-amino-4-imidazolecarboxamide-riboside level, Prominent metopic ridge, Hypoglyc... |
OMIM:608688 |
Pituitary Apoplexy |
|
Hyponatremia, Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation te... |
ORPHA:95613 |
Mitochondrial Complex I Deficiency, Nuclear Type 37 |
|
Respiratory distress, Hypospadias, Opisthotonus, Growth delay, Bradycardia, Pulmonary arterial hy... |
OMIM:619272 |
Dicarboxylic Aminoaciduria |
|
Aminoaciduria, Aspartic aciduria, Nephrolithiasis, Fasting hypoglycemia |
OMIM:222730 |
Radio-Renal Syndrome |
|
Respiratory distress, Dyspnea, Respiratory failure, Chylothorax, Pleural effusion |
ORPHA:3015 |
Mogs-Cdg |
|
Respiratory distress, Hypoventilation, Apnea, Hepatosplenomegaly, Decreased circulating antibody ... |
ORPHA:79330 |
Lessel-Kreienkamp Syndrome |
|
Wide cranial sutures, Patent ductus arteriosus, Pulmonic stenosis, Clinodactyly of the 5th finger... |
OMIM:619149 |
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic |
|
Ketonuria, Hypoglycemia, Apnea, Low plasma citrulline, Fasting hypoglycemia, Impaired gluconeogen... |
OMIM:261680 |
White-Sutton Syndrome |
|
Joint laxity, Waddling gait, Short stature, Patent ductus arteriosus, Hypoglycemic seizures, Worm... |
OMIM:616364 |
Primary Dystonia, Dyt4 Type |
|
Respiratory distress, Torticollis, Generalized dystonia, Upper limb postural tremor, Blepharospas... |
ORPHA:98805 |
Cholestasis, Progressive Familial Intrahepatic, 5 |
|
Death in infancy, Hypoglycemia, Elevated circulating alpha-fetoprotein concentration, Conjugated ... |
OMIM:617049 |
Mitochondrial Trifunctional Protein Deficiency 1 |
|
Elevated circulating creatine kinase concentration, Elevated circulating acylcarnitine concentrat... |
OMIM:609015 |
3-Methylcrotonyl-Coa Carboxylase 1 Deficiency |
|
Acute hyperammonemia, Ketonuria, Hypoglycemia, Apnea, Opisthotonus, Elevated urinary 3-methylcrot... |
OMIM:210200 |
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type) |
|
Hypoglycemia, Portal hypertension, Elevated circulating alpha-fetoprotein concentration, Splenome... |
OMIM:251880 |
Wars2-Related Combined Oxidative Phosphorylation Defect |
|
Ataxia, Neonatal hypoglycemia, Tremor, Dysmetria, Cardiomyopathy, Athetosis, Difficulty walking, ... |
ORPHA:572798 |
Glycogen Storage Disease Ixd |
|
Hypoglycemia, Elevated circulating creatine kinase concentration, Exercise-induced myoglobinuria |
OMIM:300559 |
Congenital Fibrinogen Deficiency |
|
Abnormal bleeding, Tachycardia, Internal hemorrhage, Splenic rupture, Opisthotonus, Prolonged pro... |
ORPHA:335 |
8Q24.3 Microdeletion Syndrome |
|
Respiratory distress, Ectopic posterior pituitary, Congenital hip dislocation, Bilateral renal hy... |
ORPHA:508488 |
3-Methylglutaconic Aciduria, Type Viii |
|
Death in infancy, Dystonia, Apnea, Tremor, Patent ductus arteriosus, Growth delay, Hypopnea, 3-Me... |
OMIM:617248 |
Ogden Syndrome |
|
Large posterior fontanelle, Congenital hip dislocation, Apnea, Maternal diabetes, Ventricular tac... |
OMIM:300855 |
Carnitine Palmitoyltransferase Ii Deficiency |
|
Neonatal respiratory distress, Elevated circulating creatine kinase concentration, Elevated circu... |
ORPHA:157 |
Klippel-Trénaunay Syndrome |
|
Gastrointestinal hemorrhage, Prolonged bleeding time, Pulmonary embolism, Microcytic anemia, Cong... |
ORPHA:90308 |
Glycogen Storage Disease Ixc |
|
Hypertriglyceridemia, Hypoglycemia, Postnatal growth retardation, Splenomegaly, Growth delay, Fas... |
OMIM:613027 |
Blue Rubber Bleb Nevus |
|
Pathologic fracture, Intestinal bleeding, Iron deficiency anemia, Thrombocytopenia |
OMIM:112200 |
Mitochondrial Complex I Deficiency, Nuclear Type 1 |
|
3-hydroxydicarboxylic aciduria, Death in infancy, Hypospadias, Ataxia, Hypoglycemia, Apnea, Splen... |
OMIM:252010 |
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome |
|
Hyponatremia, Decreased circulating cortisol level, Decreased serum insulin-like growth factor 1,... |
ORPHA:293978 |
Maple Syrup Urine Disease |
|
Ataxia, Increased level of hippuric acid in urine, Hypoglycemia, Elevated circulating branched ch... |
OMIM:248600 |
Hunter-Macdonald Syndrome |
|
Aortic regurgitation, Epiphyseal dysplasia, Hypospadias, Short stature, Metatarsus adductus, Pate... |
OMIM:611962 |
17Q11 Microdeletion Syndrome |
|
Osteopenia, Bowing of the legs, Elevated circulating parathyroid hormone level, Pheochromocytoma,... |
ORPHA:97685 |
Fructose-1,6-Bisphosphatase Deficiency |
|
Tachycardia, Increased urinary glycerol, Hypoglycemia, Apnea, Dyspnea, Hyperventilation |
OMIM:229700 |
Carnitine Palmitoyltransferase I Deficiency |
|
Dicarboxylic aciduria, Elevated circulating creatine kinase concentration, Hyperammonemia, Renal ... |
OMIM:255120 |
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
|
Renal insufficiency, Dicarboxylic aciduria, Neonatal respiratory distress, Elevated circulating c... |
ORPHA:228308 |
Pituitary Hormone Deficiency, Combined Or Isolated, 1 |
|
Decreased thyroid-stimulating hormone level, Short stature, Anterior pituitary hypoplasia, Reduce... |
OMIM:613038 |
Glucocorticoid Deficiency 1 |
|
Decreased circulating cortisol level, Accelerated skeletal maturation, Abnormal circulating renin... |
OMIM:202200 |
Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To |
|
Elevated urinary 3-hydroxybutyric acid, Ketonuria, Hypoglycemia, Hypoargininemia, Hyperglutaminem... |
OMIM:615751 |
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type) |
|
Hypertyrosinemia, Death in infancy, Respiratory distress, Hypoglycemia, 4-hydroxyphenylacetic aci... |
OMIM:617156 |
Eisenmenger Syndrome |
|
Respiratory distress, Elevated circulating C-reactive protein concentration, Ventricular tachycar... |
ORPHA:97214 |
Combined Oxidative Phosphorylation Deficiency 37 |
|
Hypoglycemia, Respiratory insufficiency, Prolonged prothrombin time, 3-Methylglutaconic aciduria,... |
OMIM:618329 |
Doors Syndrome |
|
Increased urine alpha-ketoglutarate concentration, Respiratory distress, Adrenal hyperplasia, Apl... |
ORPHA:79500 |
Colchicine Poisoning |
|
Hyponatremia, Respiratory distress, Renal insufficiency, Myocarditis, Congestive heart failure, L... |
ORPHA:31824 |
Infantile Liver Failure Syndrome 2 |
|
Cardiomyopathy, Prolonged prothrombin time, Hypoglycemia, Hyperammonemia |
OMIM:616483 |
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome |
|
Hypospadias, Asthma, Gait disturbance, Neonatal hypoglycemia, Decreased circulating IgA level |
ORPHA:457485 |
Intellectual Developmental Disorder, Autosomal Dominant 45 |
|
Arachnodactyly, Chorea, Heart murmur, Pulmonic stenosis, Neonatal hypoglycemia |
OMIM:617600 |
Glutaric Acidemia I |
|
Ketonuria, Hypoglycemia, Glutaric aciduria, Opisthotonus, Choreoathetosis, Dystonia, Elevated cir... |
OMIM:231670 |
Bachmann-Bupp Syndrome |
|
Clinodactyly of the 5th finger, Hypoglycemia, Hyperbilirubinemia |
OMIM:619075 |
Adnp Syndrome |
|
Joint laxity, Respiratory distress, Broad hallux, Sandal gap, Urinary incontinence, Short stature... |
ORPHA:404448 |
Coffin-Siris Syndrome 6 |
|
Wormian bones, Clinodactyly, Short stature, Brachydactyly |
OMIM:617808 |
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2 |
|
Accessory spleen, Hypertriglyceridemia, Hypoglycemia, Joint hypermobility, Neonatal hypoglycemia,... |
OMIM:619418 |
Long Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency |
|
Hypertrophic cardiomyopathy, Hypoglycemia, Hypoketotic hypoglycemia |
ORPHA:5 |
Beckwith-Wiedemann Syndrome |
|
Ureteral duplication, Accelerated skeletal maturation, Vesicoureteral reflux, Nephropathy, Polycy... |
ORPHA:116 |
Oromandibular Dystonia |
|
Respiratory distress |
ORPHA:93958 |
Thrombotic Thrombocytopenic Purpura, Hereditary |
|
Respiratory distress, Reticulocytosis, Transient ischemic attack, Proteinuria, Myocardial infarct... |
OMIM:274150 |
Ogden Syndrome |
|
Torticollis, Broad hallux, Postnatal growth retardation, Shuffling gait, Cardiogenic shock, Arrhy... |
ORPHA:276432 |
Hennekam-Beemer Syndrome |
|
Telangiectasia of the skin, Camptodactyly of finger, Mastocytosis, Short stature, Pneumonia, Resp... |
ORPHA:2135 |
3-Hydroxyacyl-Coa Dehydrogenase Deficiency |
|
Dicarboxylic aciduria, Myoglobinuria, Dilated cardiomyopathy, Hypoglycemic seizures, Hepatic necr... |
OMIM:231530 |
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset |
|
Respiratory distress, Respiratory failure requiring assisted ventilation, Respiratory insufficien... |
ORPHA:308552 |
Cardiomyopathy, Familial Hypertrophic, 4 |
|
Respiratory distress, Transient ischemic attack, Cardiac arrest, Sudden cardiac death, First degr... |
OMIM:115197 |
Pituitary Stalk Interruption Syndrome |
|
Death in infancy, Ectopic posterior pituitary, Hypoplasia of penis, Short stature, Hypoglycemia, ... |
ORPHA:95496 |
Lymphatic Malformation 7 |
|
Respiratory distress, Pleural effusion, Chylothorax |
OMIM:617300 |
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form |
|
Elevated circulating creatine kinase concentration, Elevated circulating acylcarnitine concentrat... |
ORPHA:228305 |
Diamond-Blackfan Anemia 15 With Mandibulofacial Dysostosis |
|
Respiratory distress |
OMIM:606164 |
Baraitser-Winter Cerebrofrontofacial Syndrome |
|
Prominent metopic ridge, Hydroureter, Transient ischemic attack, Duplication of thumb phalanx, Jo... |
ORPHA:2995 |
Infantile Krabbe Disease |
|
Respiratory distress, Opisthotonus, Abnormal heart rate variability, Ankle clonus, Respiratory fa... |
ORPHA:206436 |
Rodrigues Blindness |
|
Nasal flaring |
OMIM:268320 |
Orthostatic Hypotension 2 |
|
Anemia, Orthostatic hypotension, Hypoglycemia, Decreased glomerular filtration rate |
OMIM:618182 |
Lethal Short-Limb Skeletal Dysplasia, Al Gazali Type |
|
Wormian bones, Wide anterior fontanel, Shortening of all phalanges of fingers, Shortening of all ... |
OMIM:601356 |
Congenital Isolated Acth Deficiency |
|
Hyponatremia, Decreased circulating cortisol level, Adrenal hypoplasia, Hyperkalemia, Hypoglycemi... |
ORPHA:199296 |
Yunis-Varon Syndrome |
|
Congenital hip dislocation, Short metatarsal, Absent hallux, Aspiration pneumonia, Intrauterine g... |
OMIM:216340 |
Methylmalonic Aciduria, Cbla Type |
|
Methylmalonic acidemia, Respiratory distress, Pancytopenia, Ketonuria, Elevated urine 3-hydroxypr... |
OMIM:251100 |
Esophageal Atresia |
|
Respiratory distress, Maternal diabetes, Laryngotracheomalacia, Episodic respiratory distress, Ch... |
ORPHA:1199 |
Ulbright-Hodes Syndrome |
|
Abnormal penis morphology, Short humerus, Short metacarpal, Respiratory distress, Maternal diabet... |
ORPHA:3404 |
Ethylene Glycol Poisoning |
|
Prolonged QT interval, Shock, Tachycardia, Atrial fibrillation, Renal insufficiency, Ataxia, Abno... |
ORPHA:31826 |
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency |
|
Hyponatremia, Decreased circulating cortisol level, Adrenal hyperplasia, Hypoglycemia, Pneumonia,... |
ORPHA:90790 |
Acquired Purpura Fulminans |
|
Shock, Elevated circulating C-reactive protein concentration, Intracranial hemorrhage, Prolonged ... |
ORPHA:49566 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 6 |
|
Ketonuria, Hypoglycemia, Hyperammonemia, Growth delay, Hyperglycemia |
OMIM:615453 |
Nocardiosis |
|
Respiratory distress, Brain abscess, Pericarditis, Osteomyelitis, Liver abscess, Pneumonia, Produ... |
ORPHA:31204 |
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome |
|
Respiratory distress, Pulmonary arterial hypertension |
ORPHA:2519 |
Complete Atrioventricular Septal Defect |
|
Abnormal EKG, Tachycardia, Left-to-right shunt, Intercostal retractions, Crackles, Right ventricu... |
ORPHA:1329 |
Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Respiratory distress, Prolonged QRS complex, Apnea, Neonatal hypoglycemia, Left axis deviation, C... |
OMIM:261740 |
Agnathia-Holoprosencephaly-Situs Inversus Syndrome |
|
Respiratory distress |
ORPHA:990 |
Neurodegeneration And Seizures Due To Copper Transport Defect |
|
Respiratory distress, Tricuspid regurgitation, Short femur, Pneumothorax, Glandular hypospadias, ... |
OMIM:620306 |
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome |
|
Joint laxity, Arachnodactyly, Limitation of joint mobility, Gait ataxia, Metopic synostosis, Diff... |
ORPHA:457359 |
Oculopharyngodistal Myopathy 1 |
|
Respiratory distress, Paroxysmal atrial fibrillation, Ataxia, Elevated circulating creatine kinas... |
OMIM:164310 |
Immunodeficiency 59 And Hypoglycemia |
|
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... |
OMIM:233600 |
Alternating Hemiplegia Of Childhood |
|
Respiratory distress, Ataxia, Apnea, Cardiac conduction abnormality, Tremor, Chorea, Aspiration, ... |
ORPHA:2131 |
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency |
|
Ketonuria, Short stature, Ketotic hypoglycemia, Hyperlipidemia, Glycosuria, Postprandial hypergly... |
ORPHA:2089 |
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome |
|
Decreased response to growth hormone stimulation test, Aspiration pneumonia, Vesicoureteral reflu... |
ORPHA:444077 |
Microlissencephaly-Micromelia Syndrome |
|
Respiratory distress |
ORPHA:50810 |
Prader-Willi Syndrome Due To Translocation |
|
Respiratory distress, Overlapping toe, Hypogonadotropic hypogonadism, Decreased response to growt... |
ORPHA:177907 |
Hereditary Angioedema Type 1 |
|
Respiratory distress, Dyspnea, Inspiratory stridor |
ORPHA:100050 |
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation |
|
Respiratory distress, Exaggerated startle response, Broad-based gait, Ataxia, Dystonia |
ORPHA:438216 |
Gapo Syndrome |
|
Joint hypermobility, Delayed closure of the anterior fontanelle, Wide anterior fontanel, Delayed ... |
OMIM:230740 |
Histiocytoid Cardiomyopathy |
|
Wolff-Parkinson-White syndrome, Atrial flutter, Tachycardia, Atrial fibrillation, Hypoglycemia, J... |
ORPHA:137675 |
Methylmalonic Aciduria, Cblb Type |
|
Methylmalonic acidemia, Respiratory distress, Pancytopenia, Ketonuria, Thrombocytopenia, Methylma... |
OMIM:251110 |
Alström Syndrome |
|
Respiratory distress, Decreased response to growth hormone stimulation test, Urinary incontinence... |
ORPHA:64 |
Sotos Syndrome |
|
Ureteral duplication, Accelerated skeletal maturation, Tremor, Flexion contracture, Vesicouretera... |
ORPHA:821 |
Saethre-Chotzen Syndrome |
|
Hallux valgus, Syndactyly, Absent first metatarsal, Toe syndactyly, Partial duplication of the di... |
OMIM:101400 |
Biotinidase Deficiency |
|
Respiratory distress, Apnea, Hyperventilation |
ORPHA:79241 |
3-Methylcrotonyl-Coa Carboxylase 2 Deficiency |
|
Acute hyperammonemia, Ketonuria, Hypoglycemia, Hyperglycinuria, Hyperammonemia, Opisthotonus, Org... |
OMIM:210210 |
Leprechaunism |
|
Postnatal growth retardation, Insulin resistance, Long penis, Hyperinsulinemia, Hypercalciuria, C... |
ORPHA:508 |
Congenital Disorder Of Glycosylation, Type Im |
|
Death in infancy, Increased circulating free fatty acid level, Dilated cardiomyopathy, Bradycardi... |
OMIM:610768 |
Mitochondrial Dna-Associated Leigh Syndrome |
|
Ataxia, Apnea, Cardiac conduction abnormality, Dyspnea, Chorea, Low plasma citrulline, Dilated ca... |
ORPHA:255210 |
Ehlers-Danlos Syndrome, Musculocontractural Type, 1 |
|
Joint laxity, Aortic regurgitation, Joint dislocation, Tricuspid regurgitation, Arachnodactyly, D... |
OMIM:601776 |
Toxic Epidermal Necrolysis |
|
Gastrointestinal hemorrhage, Respiratory distress, Renal insufficiency, Dysuria, Sudden cardiac d... |
ORPHA:537 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 1 |
|
Hypertyrosinemia, Ataxia, Hypoglycemia, Lacticaciduria, Tubulointerstitial nephritis, Aminoacidur... |
OMIM:124000 |
Oculodentodigital Dysplasia, Autosomal Recessive |
|
Wide cranial sutures, Broad long bones, Short stature, Fifth finger distal phalanx clinodactyly, ... |
OMIM:257850 |
Diamond-Blackfan Anemia 10 |
|
Respiratory distress, Macrocytic anemia, Short stature, Ectopic kidney, Patent ductus arteriosus,... |
OMIM:613309 |
Heterotaxy, Visceral, 1, X-Linked |
|
Respiratory distress, Congenital hip dislocation, Block vertebrae, Asplenia, Patent ductus arteri... |
OMIM:306955 |
Superficial Siderosis |
|
Abnormal bleeding, Ataxia, Subarachnoid hemorrhage, Impaired temperature sensation, Impaired pain... |
ORPHA:247245 |
Mandibulofacial Dysostosis, Guion-Almeida Type |
|
Respiratory distress, Short stature, Proximal placement of thumb, Preaxial hand polydactyly, Slen... |
OMIM:610536 |
Pachyonychia Congenita |
|
Respiratory distress |
ORPHA:2309 |
Glucocorticoid Deficiency 2 |
|
Decreased circulating cortisol level, Increased circulating ACTH level, Recurrent hypoglycemia |
OMIM:607398 |
Grant Syndrome |
|
Wormian bones, Down-sloping shoulders, Tibial bowing |
OMIM:138930 |
Multiple Endocrine Neoplasia, Type I |
|
Hypoglycemia, Pancreatic islet cell adenoma, Elevated circulating growth hormone concentration, H... |
OMIM:131100 |
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of |
|
Medium chain dicarboxylic aciduria, Hyperglycinuria, Hypoglycemia |
OMIM:201450 |
Parietal Foramina 1 |
|
Wormian bones |
OMIM:168500 |
Cerebral Visual Impairment |
|
Intracranial hemorrhage, Ischemic stroke, Neonatal hypoglycemia |
ORPHA:447788 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 5 |
|
Death in infancy, Ketonuria, Hypospadias, Ataxia, Dystonia, Hypoglycemia, Tremor, Tachypnea, Hype... |
OMIM:220111 |
Plague |
|
Abnormal bleeding, Respiratory distress, Tachycardia, Hematemesis, Splenomegaly, Abnormality of t... |
ORPHA:707 |
Vascular Ehlers-Danlos Syndrome |
|
Abnormal bleeding, Joint dislocation, Congenital hip dislocation, Telangiectasia of the skin, Tra... |
ORPHA:286 |
Generalized Glucocorticoid Resistance Syndrome |
|
Increased urinary cortisol level, Adrenal hyperplasia, Hypoglycemia, Precocious puberty, Increase... |
ORPHA:786 |
Proprotein Convertase 1/3 Deficiency |
|
Decreased circulating cortisol level, Hypogonadotropic hypogonadism, Hypoinsulinemia, Reactive hy... |
OMIM:600955 |
Mowat-Wilson Syndrome |
|
Urinary incontinence, Asplenia, Flexion contracture, Calcaneovalgus deformity, Vesicoureteral ref... |
ORPHA:2152 |
Mohr Syndrome |
|
Syndactyly, Wormian bones, Short stature, Preaxial hand polydactyly, Postaxial hand polydactyly, ... |
OMIM:252100 |
Auriculocondylar Syndrome |
|
Respiratory distress |
ORPHA:137888 |
Acth Deficiency, Isolated |
|
Decreased circulating cortisol level, Fasting hypoglycemia, Adrenocorticotropic hormone deficienc... |
OMIM:201400 |
Diamond-Blackfan Anemia 1 |
|
Reticulocytopenia, Triphalangeal thumb, Neutropenia, Spina bifida occulta, Short stature, Congeni... |
OMIM:105650 |
Midface Hypoplasia, Obesity, Developmental Delay, And Neonatal Hypotonia |
|
Delayed skeletal maturation, Neonatal hypoglycemia, Brachydactyly |
OMIM:608624 |
Immunodeficiency 49 |
|
Impaired lymphocyte transformation with phytohemagglutinin, Eosinophilia, T lymphocytopenia, Abno... |
OMIM:617237 |
1P36 Deletion Syndrome |
|
Hypoplasia of penis, Hypospadias, Camptodactyly of finger, Short stature, Joint stiffness, Abnorm... |
ORPHA:1606 |
Aortic Arch Interruption |
|
Aortic regurgitation, Shock, Respiratory distress, Tricuspid regurgitation, Blood pressure substa... |
ORPHA:2299 |
Medulloblastoma |
|
Ataxia, Cerebellar hemorrhage, Cerebellar ataxia associated with quadrupedal gait, Dysmetria, Pro... |
ORPHA:616 |
Neurooculorenal Syndrome |
|
Decreased circulating cortisol level, Ectopic posterior pituitary, Short hallux, Unilateral renal... |
OMIM:620305 |
Congenital Alveolar Capillary Dysplasia |
|
Respiratory distress, Pulmonary arterial hypertension |
ORPHA:210122 |
Tuberous Sclerosis Complex |
|
Respiratory distress, Renal insufficiency, Pancreatic endocrine tumor, Pituitary adenoma, Chronic... |
ORPHA:805 |
Neurodevelopmental Disorder With Hypotonia, Craniofacial Abnormalities, And Seizures |
|
Hypoglycemia, Tapered finger, Short palm, Aortic valve stenosis, Broad thumb |
OMIM:614501 |
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies |
|
Overlapping toe, Tapered finger, Accelerated skeletal maturation, 2-3 toe syndactyly, Heart murmu... |
OMIM:618653 |
Aspartylglucosaminuria |
|
Joint laxity, Aspartylglucosaminuria, Short stature, Delayed skeletal maturation, Vacuolated lymp... |
OMIM:208400 |
Short-Rib Thoracic Dysplasia 15 With Polydactyly |
|
Respiratory distress, Short stature, Postaxial polydactyly, Splenomegaly, Postaxial hand polydact... |
OMIM:617088 |
Congenital Tracheal Stenosis |
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Respiratory distress, Neonatal asphyxia, Wheezing, Dyspnea, Upper airway obstruction |
ORPHA:141127 |
Arachnodactyly-Abnormal Ossification-Intellectual Disability Syndrome |
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Arachnodactyly, Apnea, Delayed cranial suture closure |
ORPHA:1129 |
Kasabach-Merritt Syndrome |
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Respiratory distress, Reticulocytosis, Thrombocytopenia, Anemia, Leukopenia, Prolonged prothrombi... |
ORPHA:2330 |
Coffin-Siris Syndrome 12 |
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Joint laxity, Hypospadias, Short stature, Hip subluxation, Short thumb, Slender finger, Heart mur... |
OMIM:619325 |
Isolated Arrhinia |
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Respiratory distress |
ORPHA:1134 |
Monocarboxylate Transporter 1 Deficiency |
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Ketonuria, Ketotic hypoglycemia |
OMIM:616095 |
Trisomy 10P |
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Thumb contracture, Wide cranial sutures, Short toe, Growth delay, Multiple renal cysts, Camptodac... |
ORPHA:171929 |
Scimitar Syndrome |
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Respiratory distress, Pulmonary arterial hypertension, Pneumothorax, Cough |
ORPHA:185 |
Beckwith-Wiedemann Syndrome |
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Adrenocortical cytomegaly, Prominent metopic ridge, Neonatal hypoglycemia, Accelerated skeletal m... |
OMIM:130650 |
Yellow Fever |
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Abnormal bleeding, Shock, Renal insufficiency, Anuria, Neutrophilia, Elevated circulating creatin... |
ORPHA:99829 |
Ramos-Arroyo Syndrome |
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Respiratory distress |
ORPHA:1051 |
Fructose Intolerance, Hereditary |
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Gastrointestinal hemorrhage, Transient aminoaciduria, Hyperphosphaturia, Hypoglycemia, Bicarbonat... |
OMIM:229600 |
Leptospirosis |
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Respiratory distress, Pericarditis, First degree atrioventricular block, Cellular urinary casts, ... |
ORPHA:509 |
Microphthalmia With Linear Skin Defects Syndrome |
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Abnormal penis morphology, Respiratory distress, Tricuspid regurgitation, Hypospadias, Severe sho... |
ORPHA:2556 |
Hellp Syndrome |
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Hemolytic anemia, Decreased mean corpuscular hemoglobin concentration, Proteinuria, Cerebral hemo... |
ORPHA:244242 |
Hereditary Fructose Intolerance |
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Renal insufficiency, Reactive hypoglycemia, Chronic kidney disease, Hypermagnesemia, Growth delay... |
ORPHA:469 |
Ayme-Gripp Syndrome |
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Pericarditis, Short stature, Tapered finger, Radioulnar synostosis, Camptodactyly, Delayed crania... |
OMIM:601088 |
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked |
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Respiratory distress, Rhinitis |
OMIM:305100 |
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome |
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Respiratory distress, Ureteral duplication, Neonatal insulin-dependent diabetes mellitus, Patent ... |
ORPHA:2255 |
Pallister-Killian Syndrome |
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Congenital hip dislocation, Flexion contracture, Renal cyst, Camptodactyly of 2nd-5th fingers, Ap... |
OMIM:601803 |
Hypertelorism-Hypospadias-Polysyndactyly Syndrome |
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Abnormal penis morphology, Finger syndactyly, Broad hallux phalanx, Hypospadias, Preaxial hand po... |
ORPHA:2211 |
Wac-Related Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome |
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Asthma, Nasal flaring, Pelvic kidney, Short palm, Dilatation of renal calices, Brachydactyly |
ORPHA:466943 |
Perlman Syndrome |
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Pancreatic islet-cell hyperplasia, Renal hamartoma, Hypoglycemia |
OMIM:267000 |
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum |
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Abnormal penis morphology, Respiratory distress, Respiratory failure requiring assisted ventilati... |
ORPHA:95455 |
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome |
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Respiratory distress, Neonatal respiratory distress, Respiratory acidosis |
OMIM:614748 |
Congenital Total Pulmonary Venous Return Anomaly |
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Respiratory distress, Respiratory failure requiring assisted ventilation, Paroxysmal dyspnea, Apn... |
ORPHA:99125 |
Holoprosencephaly 1 |
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Short stature, Hypoglycemia, Adrenal hypoplasia, Micropenis, Diabetes insipidus |
OMIM:236100 |
Renal Agenesis, Bilateral |
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Nonketotic hypoglycemia |
ORPHA:1848 |