Muscle Cramps, Familial |
|
Elevated circulating creatine kinase concentration |
OMIM:158400 |
Cramps, Familial Adolescent |
|
Elevated circulating creatine kinase concentration |
OMIM:218050 |
Pentosuria |
|
Abnormal circulating carbohydrate concentration, Abnormality of circulating enzyme level |
ORPHA:2843 |
Hypophosphatemic Bone Disease |
|
Rickets, Osteomalacia, Hypophosphatemia |
OMIM:146350 |
Pseudopseudohypoparathyroidism |
|
Short stature, Short distal phalanx of the 3rd finger, Ectopic ossification, Short metatarsal, Ob... |
ORPHA:79445 |
Hypoparathyroidism, Familial Isolated, 2 |
|
Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures |
OMIM:618883 |
Hypophosphatemic Rickets, Autosomal Recessive, 1 |
|
Increased bone mineral density, Craniosynostosis, Rickets, Hypophosphatemia, Hypophosphatemic ric... |
OMIM:241520 |
Hypophosphatemic Rickets, Autosomal Dominant |
|
Hypophosphatemic rickets, Rickets, Osteomalacia, Hypophosphatemia |
OMIM:193100 |
Rhizomelic Chondrodysplasia Punctata, Type 3 |
|
Short humerus, Short femur, Rhizomelia, Epiphyseal stippling, Failure to thrive |
OMIM:600121 |
Gnathodiaphyseal Dysplasia |
|
Osteopenia, Bowing of the long bones, Recurrent fractures, Mandibular osteomyelitis, Scoliosis, T... |
ORPHA:53697 |
Vitamin D-Dependent Rickets, Type 3 |
|
Osteopenia, Bowing of the legs, Flared metaphysis, Elevated circulating parathyroid hormone level... |
OMIM:619073 |
Blue Diaper Syndrome |
|
Hypercalcemia, Elevated circulating thyroid-stimulating hormone concentration, Increased body wei... |
ORPHA:94086 |
Vitamin D Hydroxylation-Deficient Rickets, Type 1B |
|
Bone pain, Bulging epiphyses, Recurrent fractures, Bowing of the legs, Enlargement of the costoch... |
OMIM:600081 |
Diarrhea 13 |
|
Hepatic steatosis, Recurrent hypoglycemia, Failure to thrive, Hypoalbuminemia |
OMIM:620357 |
Eiken Syndrome |
|
Short palm, Abnormal trabecular bone morphology, Epiphyseal dysplasia, Abnormal acetabulum morpho... |
ORPHA:79106 |
Paget Disease Of Bone 5, Juvenile-Onset |
|
Barrel-shaped chest, Osteopenia, Increased bone mineral density, Short humerus, Short stature, Re... |
OMIM:239000 |
Hyperinsulinism Due To Insr Deficiency |
|
Hypoglycemia, Insulin resistance, Fasting hyperinsulinemia, Abnormal circulating C-peptide concen... |
ORPHA:263458 |
Pseudohypoparathyroidism, Type Ii |
|
Hyperphosphatemia, Hypocalcemia |
OMIM:203330 |
Osteogenesis Imperfecta, Type Xxii |
|
Bowing of the long bones, Short stature, Recurrent fractures, Abnormal circulating calcium concen... |
OMIM:619795 |
Axial Osteomalacia |
|
Increased bone mineral density, Osteomalacia, Elevated circulating creatine kinase concentration |
OMIM:109130 |
Osteogenesis Imperfecta, Type Xix |
|
Osteopenia, Severe short stature, Rhizomelia, Recurrent fractures, Bowing of the legs, Pectus exc... |
OMIM:301014 |
Congenital Glucokinase-Related Hyperinsulinism |
|
Fasting hyperinsulinemia, Abnormal circulating C-peptide concentration, Recurrent hypoglycemia, T... |
ORPHA:79299 |
Pseudohypoparathyroidism, Type Ic |
|
Short metacarpal, Short stature, Elevated circulating thyroid-stimulating hormone concentration, ... |
OMIM:612462 |
Bruck Syndrome 1 |
|
Joint laxity, Hip contracture, Short stature, Protrusio acetabuli, Ankle flexion contracture, Kyp... |
OMIM:259450 |
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency |
|
Elevated circulating thyroid-stimulating hormone concentration, Abnormal circulating insulin conc... |
ORPHA:171706 |
Pseudohypoparathyroidism, Type Ia |
|
Short metacarpal, Short stature, Short toe, Short metatarsal, Obesity, Pseudohypoparathyroidism, ... |
OMIM:103580 |
Glycogen Storage Disease Vi |
|
Hepatomegaly, Hypertriglyceridemia, Failure to thrive in infancy, Hypoglycemia, Postnatal growth ... |
OMIM:232700 |
Metatropic Dysplasia |
|
Abnormal metaphyseal vascular invasion, Flexion contracture, Long coccyx, Halberd-shaped pelvis, ... |
OMIM:156530 |
Hypocalcemic Vitamin D-Resistant Rickets |
|
Short stature, Osteomalacia, Recurrent fractures, Abnormal thorax morphology, Bone cyst, Genu var... |
ORPHA:93160 |
Spondylometaphyseal Dysplasia, Type A4 |
|
Brachydactyly, Severe short stature, Ovoid vertebral bodies, Coxa valga, Metaphyseal sclerosis, E... |
OMIM:609052 |
Combined Oxidative Phosphorylation Deficiency 34 |
|
Hepatomegaly, Pancytopenia, Hypoglycemia, Hypergonadotropic hypogonadism, Elevated circulating th... |
OMIM:617872 |
Isolated Asymptomatic Elevation Of Creatine Phosphokinase |
|
Elevated creatine kinase after exercise, Elevated circulating creatine kinase concentration |
ORPHA:206599 |
Hypophosphatemic Rickets With Hypercalciuria, Hereditary |
|
Bulging epiphyses, Recurrent fractures, Bowing of the legs, Abnormal circulating calcium concentr... |
OMIM:241530 |
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 |
Metaphyseal Chondrodysplasia, Schmid Type |
|
Broad proximal phalanges of the hand, Short tubular bones of the hand, Bowing of the legs, Proxim... |
ORPHA:174 |
Hypophosphatasia |
|
Failure to thrive in infancy, Recurrent fractures, Hypercalcemia, Craniosynostosis, Skin dimple, ... |
ORPHA:436 |
Osteogenesis Imperfecta, Type Ix |
|
Recurrent fractures, Beaded ribs, Pectus excavatum, Multiple prenatal fractures, Kyphosis, Pectus... |
OMIM:259440 |
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome |
|
Finger syndactyly, Short stature, Delayed skeletal maturation, Abnormal rib morphology, Pectus ca... |
ORPHA:3268 |
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies |
|
Osteopenia, Epiphyseal dysplasia, Metaphyseal dysplasia, Hypospadias, Hypercalcemia, Decreased re... |
OMIM:614732 |
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3 |
|
Osteopenia, Hypercalcemia, Hyperphosphatemia, Elevated circulating parathyroid hormone level, Par... |
OMIM:617994 |
Pseudohypoparathyroidism, Type Ib |
|
Pseudohypoparathyroidism, Obesity, Hyperphosphatemia, Elevated circulating parathyroid hormone le... |
OMIM:603233 |
Hypoinsulinemic Hypoglycemia With Hemihypertrophy |
|
Hypoglycemia, Large for gestational age, Obesity, Truncal obesity, Fasting hypoglycemia, Hypoinsu... |
OMIM:240900 |
Monosomy 5P |
|
Finger syndactyly, Short stature, Recurrent fractures, Short neck, Small hand, Joint hyperflexibi... |
ORPHA:281 |
Cholestasis, Progressive Familial Intrahepatic, 10 |
|
Hepatomegaly, Conjugated hyperbilirubinemia, Splenomegaly, Jaundice, Acholic stools, Portal fibro... |
OMIM:619868 |
Hypocalcemic Vitamin D-Dependent Rickets |
|
Irregular, rachitic-like metaphyses, Delayed epiphyseal ossification, Bone pain, Deformed rib cag... |
ORPHA:289157 |
Autosomal Dominant Hypophosphatemic Rickets |
|
Hypocalcemia, Rickets, Osteomalacia, Hypophosphatemia |
ORPHA:89937 |
Vitamin D Hydroxylation-Deficient Rickets, Type 1A |
|
Bowing of the legs, Delayed epiphyseal ossification, Bone pain, Deformed rib cage, Femoral bowing... |
OMIM:264700 |
Renal Tubular Acidosis Iii |
|
Hypokalemia, Rickets, Osteomalacia |
OMIM:267200 |
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome |
|
Hypoalbuminemia, Obesity, Craniosynostosis, Congenital hypothyroidism |
ORPHA:88643 |
Rhizomelic Dysplasia, Ain-Naz Type |
|
Short humerus, Short femur, Hypoplasia of the femoral head, Rhizomelia, Wide distal femoral metap... |
OMIM:619598 |
Short Stature Due To Ghsr Deficiency |
|
Decreased serum insulin-like growth factor 1, Hypoglycemia, Abnormality of body weight, Delayed p... |
ORPHA:314811 |
Renal Tubular Acidosis, Distal, 1 |
|
Osteomalacia, Elevated circulating creatinine concentration, Hypokalemia, Hypocalcemia, Pathologi... |
OMIM:179800 |
Morbid Obesity And Spermatogenic Failure |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Insulin resistance, Obesity, Oligo... |
OMIM:615703 |
Hypophosphatemic Rickets, X-Linked Dominant |
|
Shortening of the talar neck, Short stature, Osteomalacia, Bowing of the legs, Abnormal circulati... |
OMIM:307800 |
Osteogenesis Imperfecta, Type Xiv |
|
Osteopenia, Short stature, Recurrent fractures, Femoral bowing, Increased susceptibility to fract... |
OMIM:615066 |
Hereditary Hypophosphatemic Rickets With Hypercalciuria |
|
Osteomalacia, Increased circulating beta-C-terminal telopeptide concentration, Reduced bone miner... |
ORPHA:157215 |
Hypoparathyroidism-Retardation-Dysmorphism Syndrome |
|
Decreased response to growth hormone stimulation test, Decreased circulating parathyroid hormone ... |
OMIM:241410 |
Acrodysostosis 1 With Or Without Hormone Resistance |
|
Mild postnatal growth retardation, Accelerated skeletal maturation, Neonatal epiphyseal stippling... |
OMIM:101800 |
Hyperparathyroidism 4 |
|
Osteopenia, Primary hyperparathyroidism, Parathyroid carcinoma, Hypercalcemia |
OMIM:617343 |
Thymic Neuroendocrine Tumor |
|
Osteopenia, Chronic noninfectious lymphadenopathy, Hypercalcemia, Pancreatic islet cell adenoma, ... |
ORPHA:97289 |
Hyperinsulinism Due To Hnf1A Deficiency |
|
Hepatomegaly, Small for gestational age, Ketotic hypoglycemia, Maternal diabetes, Reactive hypogl... |
ORPHA:324575 |
Osteogenesis Imperfecta, Type V |
|
Osteopenia, Hyperextensibility of the finger joints, Short stature, Recurrent fractures, Vertebra... |
OMIM:610967 |
Endosteal Hyperostosis, Worth Type |
|
Craniofacial hyperostosis, Sclerotic vertebral body, Generalized osteosclerosis, Abnormal rib mor... |
ORPHA:2790 |
Progressive Familial Intrahepatic Cholestasis |
|
Hepatomegaly, Splenomegaly, Jaundice, Cholestasis, Reduced bone mineral density, Hypocalcemia, Fa... |
ORPHA:172 |
Metatropic Dysplasia |
|
Severe short stature, Abnormal intervertebral disk morphology, Camptodactyly of finger, Micromeli... |
ORPHA:2635 |
Mazabraud Syndrome |
|
Fibrous dysplasia of the bones, Bone pain, Recurrent fractures |
ORPHA:57782 |
Fibular Hemimelia |
|
Bowing of the legs, Structural foot deformity, Tibial bowing, Increased laxity of ankles, Foot ol... |
ORPHA:93323 |
Intermediate Osteopetrosis |
|
Back pain, Sandwich appearance of vertebral bodies, Osteomyelitis, Recurrent fractures, Cortical ... |
ORPHA:210110 |
Brachyolmia Type 1, Hobaek Type |
|
Osteopenia, Back pain, Sclerotic foci of metaphyses of the elbow, Flattened proximal radial epiph... |
OMIM:271530 |
Metaphyseal Chondrodysplasia, Spahr Type |
|
Progressive leg bowing, Bowing of the long bones, Metaphyseal dysplasia, Hyperlordosis, Metaphyse... |
ORPHA:2501 |
Osteogenesis Imperfecta, Type Xxi |
|
Barrel-shaped chest, Recurrent fractures, Bowing of the legs, Pectus excavatum, Coxa valga, Osteo... |
OMIM:619131 |
Calciphylaxis |
|
Ectopic ossification, Hyperphosphatemia, Secondary hyperparathyroidism, Skin ulcer |
ORPHA:280062 |
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland |
|
Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures, Hypomagnesemia |
ORPHA:2239 |
Vitamin D-Dependent Rickets, Type 2A |
|
Thin bony cortex, Bulging epiphyses, Recurrent fractures, Bowing of the legs, Subperiosteal bone ... |
OMIM:277440 |
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 2 |
|
Osteopenia, Increased susceptibility to fractures, Osteoporosis, Hypophosphatemia |
OMIM:612287 |
Acromesomelic Dysplasia 2A |
|
Hypoplasia of the ulna, Short humerus, Short femur, Aplasia/Hypoplasia of the patella, Postaxial ... |
OMIM:200700 |
Neonatal Hemochromatosis |
|
Hypoglycemia, Increased circulating ferritin concentration, Congenital hepatic fibrosis, Increase... |
ORPHA:446 |
Osteogenesis Imperfecta, Type Ii |
|
Crumpled long bones, Broad long bones, Small for gestational age, Recurrent fractures, Beaded rib... |
OMIM:166210 |
Hypophosphatemic Rickets, X-Linked Recessive |
|
Osteomalacia, Recurrent fractures, Delayed epiphyseal ossification, Rickets, Sparse bone trabecul... |
OMIM:300554 |
Hypoparathyroidism, Familial Isolated, 1 |
|
Hypoparathyroidism, Decreased circulating parathyroid hormone level, Hyperphosphatemia, Hypocalce... |
OMIM:146200 |
Fanconi Renotubular Syndrome 2 |
|
Osteopenia, Recurrent fractures, Osteomalacia, Rickets, Hypophosphatemia |
OMIM:613388 |
Analbuminemia |
|
Osteoporosis, Elevated circulating transferrin concentration, Increased LDL cholesterol concentra... |
OMIM:616000 |
Solitary Bone Cyst |
|
Back pain, Abnormal tibia morphology, Bone pain, Abnormal pubic bone morphology, Unicameral bone ... |
ORPHA:83468 |
Melorheostosis With Osteopoikilosis |
|
Osteopoikilosis, Abnormal cortical bone morphology |
ORPHA:1879 |
Adamantinoma |
|
Pathologic fracture, Hypercalcemia |
ORPHA:55881 |
Vacuolar Myopathy With Sarcoplasmic Reticulum Protein Aggregates |
|
Elevated circulating creatine kinase concentration |
ORPHA:88635 |
Ehlers-Danlos Syndrome, Arthrochalasia Type, 1 |
|
Osteopenia, Joint laxity, Hallux valgus, Contracture of the proximal interphalangeal joint of the... |
OMIM:130060 |
Familial Isolated Hyperparathyroidism |
|
Osteopenia, Hypercalcemia, Primary hyperparathyroidism, Elevated circulating parathyroid hormone ... |
ORPHA:99879 |
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy |
|
Nonketotic hypoglycemia, Increased circulating free fatty acid level, Large for gestational age, ... |
ORPHA:293964 |
Immunodeficiency 27A |
|
Pneumonia, Splenomegaly, Leukocytosis, Weight loss, Hepatosplenomegaly, Lymphadenopathy, Enlarged... |
OMIM:209950 |
Kyphomelic Dysplasia |
|
Bowing of the long bones, Anterior rib cupping, Micromelia, Missing ribs, Lateral clavicle hook, ... |
ORPHA:1801 |
Bruck Syndrome 2 |
|
Osteopenia, Short stature, Flexion contracture, Elbow flexion contracture, Pectus carinatum, Incr... |
OMIM:609220 |
Hypermethioninemia With S-Adenosylhomocysteine Hydrolase Deficiency |
|
Increased circulating creatine kinase MM isoform, Hypoalbuminemia, Hypermethioninemia, Decreased ... |
OMIM:613752 |
Hyperinsulinemic Hypoglycemia, Familial, 2 |
|
Hypoglycemia, Large for gestational age, Nesidioblastosis, Pancreatic islet-cell hyperplasia, Hyp... |
OMIM:601820 |
Osteogenesis Imperfecta, Type Xvi |
|
Osteopenia, Multiple rib fractures, Angulated humerus, Bowing of the long bones, Rhizomelia, Shor... |
OMIM:616229 |
Spondyloepiphyseal Dysplasia Tarda |
|
Back pain, Osteoarthritis of the distal interphalangeal joint, Abnormality of the tibial plateaux... |
ORPHA:93284 |
Hypophosphatasia, Adult |
|
Recurrent fractures, Osteomalacia, Rickets, Increased susceptibility to fractures, Pathologic fra... |
OMIM:146300 |
Lipodystrophy, Congenital Generalized, Type 3 |
|
Hepatomegaly, Hypertriglyceridemia, Short stature, Diabetes mellitus, Splenomegaly, Insulin resis... |
OMIM:612526 |
Hyperinsulinemic Hypoglycemia, Familial, 8 |
|
Hypoglycemia, Elevated circulating thyroid-stimulating hormone concentration, Hyperinsulinemia, H... |
OMIM:620211 |
Gnathodiaphyseal Dysplasia |
|
Osteopenia, Bowing of the long bones, Osteomyelitis, Diaphyseal cortical sclerosis, Increased sus... |
OMIM:166260 |
Pseudoachondroplasia |
|
Limited hip extension, Distal joint laxity, Delayed epiphyseal ossification, Osteoarthritis, Gene... |
ORPHA:750 |
Spondyloepimetaphyseal Dysplasia, Irapa Type |
|
Short metacarpal, Micromelia, Osteoarthritis, Limitation of joint mobility, Abnormal rib morpholo... |
ORPHA:93351 |
Mody |
|
Elevated hemoglobin A1c, Large for gestational age, Overweight, Transient neonatal diabetes melli... |
ORPHA:552 |
Hypocalcemia, Autosomal Dominant 1 |
|
Short stature, Decreased circulating parathyroid hormone level, Hypercalciuria, Nephrolithiasis, ... |
OMIM:601198 |
Nephropathy-Deafness-Hyperparathyroidism Syndrome |
|
Hyperparathyroidism, Bone cyst, Hypercalcemia, Anemia |
ORPHA:2668 |
Pseudohypoparathyroidism Type 1C |
|
Decreased response to growth hormone stimulation test, Reduced circulating prolactin concentratio... |
ORPHA:79444 |
Insulin Autoimmune Syndrome |
|
Nonketotic hypoglycemia, Arthralgia/arthritis, Reactive hypoglycemia, Insulin-resistant diabetes ... |
ORPHA:411593 |
X-Linked Hypophosphatemia |
|
Beaded ribs, Bowing of the legs, Generalized osteosclerosis, Bone pain, Trapezoidal distal femora... |
ORPHA:89936 |
Sanjad-Sakati Syndrome |
|
Short stature, Patchy osteosclerosis, Postnatal growth retardation, Delayed skeletal maturation, ... |
ORPHA:2323 |
Paget Disease Of Bone 2, Early-Onset |
|
Sandwich appearance of vertebral bodies, Bowing of the long bones, Short femur, Hypercalcemia, Fr... |
OMIM:602080 |
Fanconi Renotubular Syndrome 1 |
|
Hypokalemia, Rickets, Osteomalacia, Hypophosphatemia |
OMIM:134600 |
Hypophosphatasia, Infantile |
|
Elevated plasma pyrophosphate, Hypercalcemia, Craniosynostosis, Bowing of the legs, Micromelia, V... |
OMIM:241500 |
Autoimmune Hypoparathyroidism |
|
Increased bone mineral density, Autoimmune hypoparathyroidism, Hyperphosphatemia, Hypocalcemia, H... |
ORPHA:36913 |
Hypermetabolism Due To Uncoupled Mitochondrial Oxidative Phosphorylation 2 |
|
Failure to thrive, Hypervalinemia, Hyperammonemia, Hyperisoleucinemia, Hyperleucinemia, Increased... |
OMIM:620085 |
Hyperostosis Corticalis Generalisata |
|
Generalized osteosclerosis, Abnormal cortical bone morphology, Cranial hyperostosis |
ORPHA:3416 |
Epiphyseal Dysplasia, Multiple, 5 |
|
Epiphyseal dysplasia, Short metacarpal, Premature osteoarthritis, Coxa vara, Genu valgum, Irregul... |
OMIM:607078 |
Mirage Syndrome |
|
Adrenal hypoplasia, Leukopenia, Microphallus, Hyponatremia, Hypospadias, Short stature, Cryptorch... |
OMIM:617053 |
Osteomesopyknosis |
|
Increased bone mineral density, Abnormal cortical bone morphology |
ORPHA:2777 |
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type |
|
Short neck, Coxa vara, Reduced bone mineral density, Pectus carinatum, Tibial bowing, Hypoplastic... |
ORPHA:93315 |
Kenny-Caffey Syndrome, Type 2 |
|
Transient hypophosphatemia, Increased bone mineral density, Severe short stature, Short stature, ... |
OMIM:127000 |
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 1 |
|
Osteopenia, Increased susceptibility to fractures, Osteoporosis, Hypophosphatemia |
OMIM:612286 |
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency |
|
Osteopenia, Hepatomegaly, Hypoglycemia, Hyperlipidemia, Osteoporosis, Increased hepatic glycogen ... |
ORPHA:369 |
Infantile Myofibromatosis |
|
Neoplasm of the pancreas, Hypercalcemia, Bone cyst, Limitation of joint mobility, Osteolysis, Sub... |
ORPHA:2591 |
Hyperinsulinemic Hypoglycemia, Familial, 6 |
|
Abnormality of the pancreatic islet cells, Hypoglycemic seizures, Asymptomatic hyperammonemia, Hy... |
OMIM:606762 |
Osteogenesis Imperfecta, Type Iii |
|
Recurrent fractures, Severe generalized osteoporosis, Protrusio acetabuli, Multiple prenatal frac... |
OMIM:259420 |
Hip Dysplasia, Beukes Type |
|
Abnormality of the epiphysis of the femoral head, Abnormal ossification involving the femoral hea... |
ORPHA:2114 |
Hyperinsulinemic Hypoglycemia, Familial, 7 |
|
Hypoglycemia, Hyperinsulinemia, Hypoglycemic seizures, Pancreatic islet-cell hyperplasia, Hyperin... |
OMIM:610021 |
Juvenile Paget Disease |
|
Abnormal clavicle morphology, Bowing of the long bones, Short stature, Recurrent fractures, Crani... |
ORPHA:2801 |
Acromesomelic Dysplasia, Maroteaux Type |
|
Beaking of vertebral bodies, Bowing of the long bones, Ovoid vertebral bodies, Joint stiffness, H... |
ORPHA:40 |
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation |
|
Maturity-onset diabetes of the young, Micrognathia, Precocious puberty, Postnatal growth retardat... |
ORPHA:254531 |
Transient Neonatal Diabetes Mellitus |
|
Small for gestational age, Maternal diabetes, Maturity-onset diabetes of the young, Transient neo... |
ORPHA:99886 |
Refractory Celiac Disease |
|
Normocytic anemia, Macrocytic anemia, Microcytic anemia, Hypomagnesemia, Increased proportion of ... |
ORPHA:398063 |
Pseudohypoparathyroidism Type 2 |
|
Calcinosis, Pseudohypoparathyroidism, Hyperphosphatemia, Elevated circulating parathyroid hormone... |
ORPHA:94090 |
Axial Spondylometaphyseal Dysplasia |
|
Osteopenia, Aplasia/Hypoplasia of the vertebrae, Thoracic scoliosis, Mild postnatal growth retard... |
ORPHA:168549 |
Ulna Metaphyseal Dysplasia Syndrome |
|
Hypercalcemia |
OMIM:191420 |
Insulin-Resistance Syndrome Type B |
|
Osteoarthritis, Fasting hyperinsulinemia, Increased body weight, Glucose intolerance, Leukopenia,... |
ORPHA:2298 |
Late-Onset Isolated Acth Deficiency |
|
Normocytic anemia, Decreased circulating cortisol level, Hashimoto thyroiditis, Hyponatremia, Hyp... |
ORPHA:199299 |
Epiphyseal Dysplasia, Multiple, 1 |
|
Epiphyseal dysplasia, Short metacarpal, Severe short stature, Ovoid vertebral bodies, Joint stiff... |
OMIM:132400 |
Solitary Fibrous Tumor |
|
Abnormal peritoneum morphology, Hypoglycemia, Reduced C-peptide level, Weight loss, Neoplasm of t... |
ORPHA:2126 |
Albers-Schönberg Osteopetrosis |
|
Osteomyelitis, Short stature, Recurrent fractures, Mandibular osteomyelitis, Generalized osteoscl... |
ORPHA:53 |
Leishmaniasis |
|
Hepatomegaly, Pancytopenia, Abnormal macrophage morphology, Thrombocytopenia, Splenomegaly, Skin ... |
ORPHA:507 |
Spondyloepimetaphyseal Dysplasia, Di Rocco Type |
|
Metaphyseal dysplasia, Short stature, Bowing of the legs, Delayed skeletal maturation, Reduced bo... |
OMIM:617974 |
Osteosclerotic Metaphyseal Dysplasia |
|
Dense metaphyseal bands, Metaphyseal dysplasia, Increased bone mineral density, Sclerotic vertebr... |
OMIM:615198 |
Familial Cervical Artery Dissection |
|
Diabetes mellitus, Abnormal circulating lipid concentration, Thin skin, Striae distensae |
ORPHA:36382 |
Neonatal Severe Primary Hyperparathyroidism |
|
Recurrent fractures, Short stature, Narrow chest, Abnormal metaphysis morphology |
ORPHA:417 |
Multiple Enchondromatosis, Maffucci Type |
|
Multiple enchondromatosis, Pathologic fracture |
OMIM:614569 |
Pseudohypoparathyroidism Type 1A |
|
Decreased response to growth hormone stimulation test, Reduced circulating prolactin concentratio... |
ORPHA:79443 |
Hypophosphatemic Rickets And Hyperparathyroidism |
|
Hyperparathyroidism, Hypercalcemia, Rickets, Parathyroid hyperplasia, Elevated circulating parath... |
OMIM:612089 |
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency |
|
Hypertriglyceridemia, Hypoglycemia |
ORPHA:366 |
Rhabdoid Tumor |
|
Hypercalcemia, Thrombocytopenia, Subcutaneous nodule, Lymphadenopathy, Weight loss, Neoplasm of t... |
ORPHA:69077 |
Temple Syndrome |
|
Hypertriglyceridemia, Small for gestational age, Short stature, Maturity-onset diabetes of the yo... |
OMIM:616222 |
Osteogenesis Imperfecta, Type Viii |
|
Osteopenia, Multiple prenatal fractures, Femoral bowing, Tibial bowing, Decreased skull ossificat... |
OMIM:610915 |
Autosomal Recessive Kenny-Caffey Syndrome |
|
Stenosis of the medullary cavity of the long bones, Postnatal growth retardation, Thin clavicles,... |
ORPHA:93324 |
Lethal Congenital Contracture Syndrome Type 1 |
|
Short stature, Recurrent fractures, Short neck, Limitation of joint mobility, Abnormal rib morpho... |
ORPHA:1486 |
Dysplasia Epiphysealis Hemimelica |
|
Abnormal femoral neck morphology, Tarsal synostosis, Recurrent fractures, Joint stiffness, Accele... |
ORPHA:1822 |
Dysosteosclerosis |
|
Osteopenia, Sclerosis of hand bone, Increased intervertebral space, Hypoplastic vertebral bodies,... |
OMIM:224300 |
Acrocapitofemoral Dysplasia |
|
Micromelia, Short proximal phalanx of thumb, Coxa vara, Short palm, Hypoplastic iliac wing, Short... |
OMIM:607778 |
Osteogenesis Imperfecta, Type Xiii |
|
Angulated humerus, Increased bone mineral density, Short stature, Recurrent fractures, Arachnodac... |
OMIM:614856 |
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency |
|
Recurrent respiratory infections, Hypoglycemia, Hyperlipidemia, Xanthomatosis, Hyperuricemia |
ORPHA:364 |
Hypercalcemia, Infantile, 2 |
|
Polyuria, Hypercalcemia, Hypercalciuria, Renal phosphate wasting, Nephrocalcinosis, Hypophosphate... |
OMIM:616963 |
Malignant Hyperthermia, Susceptibility To, 2 |
|
Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration |
OMIM:154275 |
Pituitary Adenoma 4, Acth-Secreting |
|
Impaired glucose tolerance, Pituitary adenoma, Osteoporosis, Obesity, Increased circulating ACTH ... |
OMIM:219090 |
Pparg-Related Familial Partial Lipodystrophy |
|
Hepatomegaly, Hypertriglyceridemia, Diabetes mellitus, Aplasia/Hypoplasia of the skin, Maternal d... |
ORPHA:79083 |
Pseudohypoparathyroidism Type 1B |
|
Calcinosis, Increased bone mineral density, Short stature, Cortical subperiosteal resorption of h... |
ORPHA:94089 |
Galactokinase Deficiency |
|
Hepatomegaly, Premature ovarian insufficiency, Small for gestational age, Hypergonadotropic hypog... |
ORPHA:79237 |
Geroderma Osteodysplastica |
|
Beaking of vertebral bodies, Severe short stature, Recurrent fractures, Osteoporosis, Hip disloca... |
ORPHA:2078 |
Hypercalcemia, Infantile, 1 |
|
Polyuria, Hypercalcemia, Decreased circulating parathyroid hormone level, Nephrolithiasis, Hyperc... |
OMIM:143880 |
Pseudoachondroplasia |
|
Limited hip extension, Spatulate ribs, Delayed epiphyseal ossification, Osteoarthritis, Metaphyse... |
OMIM:177170 |
3-Methylcrotonyl-Coa Carboxylase Deficiency |
|
Abnormal circulating leucine concentration, Hypoglycemia, Failure to thrive in infancy, Hyperammo... |
ORPHA:6 |
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young |
|
Hepatomegaly, Diabetes mellitus, Hypoglycemia, Hypouricemia, Large for gestational age, Rickets, ... |
OMIM:616026 |
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness |
|
Irregular vertebral endplates, Narrow greater sciatic notch, Hypoplastic iliac wing, Lumbar hyper... |
OMIM:609616 |
Metaphyseal Chondrodysplasia, Jansen Type |
|
Hypoparathyroidism, Hip contracture, Hyperphosphaturia, Bowing of the long bones, Severe short st... |
OMIM:156400 |
Erythroderma, Lethal Congenital |
|
Failure to thrive, Hypoalbuminemia |
OMIM:227090 |
Ischiocoxopodopatellar Syndrome With Or Without Pulmonary Arterial Hypertension |
|
Pes planus, Short femur, Sandal gap, Tarsal synostosis, Wide capital femoral epiphyses, Micrognat... |
OMIM:147891 |
Fibrous Dysplasia Of Bone |
|
Abnormal tibia morphology, Abnormal femur morphology, Coxa vara, Thyroid carcinoma, Patchy reduct... |
ORPHA:249 |
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency |
|
Hepatomegaly, Excessive insulin response to glucagon test, Maternal diabetes, Large for gestation... |
ORPHA:276580 |
Coronary Artery Disease, Autosomal Dominant 2 |
|
Hypertriglyceridemia, Impaired glucose tolerance, Osteoporosis, Gout, Increased LDL cholesterol c... |
OMIM:610947 |
Coronary Artery Disease, Autosomal Dominant, 1 |
|
Hypercholesterolemia, Diabetes mellitus, Obesity |
OMIM:608320 |
Autosomal Dominant Kenny-Caffey Syndrome |
|
Stenosis of the medullary cavity of the long bones, Short stature, Postnatal growth retardation, ... |
ORPHA:93325 |
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2 |
|
Osteopenia, Joint laxity, Epiphyseal dysplasia, Bowing of the long bones, Short stature, Kyphosco... |
OMIM:615349 |
Thyroid Hormone Metabolism, Abnormal, 2 |
|
Hypercholesterolemia, Elevated circulating rT3/T3 ratio, Elevated circulating reverse T3 concentr... |
OMIM:619855 |
Malignant Hyperthermia, Susceptibility To, 3 |
|
Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration |
OMIM:154276 |
Hypocalcemia, Autosomal Dominant 2 |
|
Abnormal blood phosphate concentration, Hypocalcemia |
OMIM:615361 |
Bruck Syndrome |
|
Bowing of the long bones, Short stature, Recurrent fractures, Joint stiffness, Kyphosis, Osteopor... |
ORPHA:2771 |
Osteogenesis Imperfecta, Type Xi |
|
Osteopenia, Joint laxity, Short stature, Recurrent fractures, Protrusio acetabuli, Kyphoscoliosis... |
OMIM:610968 |
Fanconi-Bickel Syndrome |
|
Osteopenia, Nephrocalcinosis, Fasting hypoglycemia, Nephropathy, Hepatomegaly, Glycosuria, Postpr... |
ORPHA:2088 |
Diarrhea 7, Protein-Losing Enteropathy Type |
|
Hypercholesterolemia, Hyperlipidemia, Failure to thrive, Hypoalbuminemia |
OMIM:615863 |
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy |
|
Short metacarpal, Rhizomelia, Ovoid vertebral bodies, Joint stiffness, Postnatal growth retardati... |
OMIM:608940 |
Osteogenesis Imperfecta, Type Vi |
|
Joint laxity, Protrusio acetabuli, Vertebral compression fracture, Coxa vara, Increased susceptib... |
OMIM:613982 |
Isolated Growth Hormone Deficiency, Type Ia |
|
Decreased serum insulin-like growth factor 1, Hypoglycemia, Reduced circulating growth hormone co... |
OMIM:262400 |
Short Stature Due To Partial Ghr Deficiency |
|
Decreased serum insulin-like growth factor 1, Hypoglycemia, Delayed puberty |
ORPHA:314802 |
Spondylo-Megaepiphyseal-Metaphyseal Dysplasia |
|
Back pain, Enlarged epiphyses, Proximal placement of thumb, Short neck, Flexion contracture, Coxa... |
OMIM:613330 |
Spondyloepimetaphyseal Dysplasia, Isidor-Toutain Type |
|
Severe short stature, Upper-limb metaphyseal irregularity, Lower-limb metaphyseal irregularity, P... |
OMIM:618728 |
Dent Disease 1 |
|
Osteomalacia, Recurrent fractures, Delayed epiphyseal ossification, Rickets, Sparse bone trabecul... |
OMIM:300009 |
Immunodeficiency 32B |
|
Recurrent respiratory infections, Hepatomegaly, Neutrophilia, Pneumonia, Eosinophilia, Thrombocyt... |
OMIM:226990 |
Hyperparathyroidism, Neonatal Severe |
|
Calcinosis, Hepatomegaly, Hyperphosphaturia, Polyuria, Hypercalcemia, Recurrent fractures, Spleno... |
OMIM:239200 |
Urban-Rogers-Meyer Syndrome |
|
Toe syndactyly, Short stature, Camptodactyly of finger, Recurrent fractures, Short neck, Kyphosis... |
ORPHA:3409 |
Fibrodysplasia Ossificans Progressiva |
|
Hallux valgus, Failure to thrive, Short hallux, Spinal rigidity, Limitation of joint mobility, Ec... |
ORPHA:337 |
Autoinflammation With Infantile Enterocolitis |
|
Pancytopenia, Elevated circulating C-reactive protein concentration, Diffuse alveolar hemorrhage,... |
OMIM:616050 |
Oculoskeletodental Syndrome |
|
Hepatomegaly, Small for gestational age, Hypercalcemia, Renal agenesis, Short stature, Splenomega... |
OMIM:618440 |
Hyperinsulinism-Hyperammonemia Syndrome |
|
Hyperinsulinemic hypoglycemia, Fasting hyperinsulinemia, Reactive hypoglycemia, Asymptomatic hype... |
ORPHA:35878 |
Spondylocostal Dysostosis 3, Autosomal Recessive |
|
Contracture of the proximal interphalangeal joint of the 2nd finger, Short stature, Kyphosis, Hyp... |
OMIM:609813 |
Rajab Interstitial Lung Disease With Brain Calcifications 2 |
|
Hypertriglyceridemia, Microcytic anemia, Hypothyroidism, Abnormal pulmonary interstitial morpholo... |
OMIM:619013 |
Hypothyroidism, Congenital, Nongoitrous, 8 |
|
Inappropriately normal thyroid-stimulating hormone level, Secondary amenorrhea, Central hypothyro... |
OMIM:301033 |
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency |
|
Hepatomegaly, Excessive insulin response to glucagon test, Large for gestational age, Hyperinsuli... |
ORPHA:276575 |
Mycetoma |
|
Back pain, Osteomyelitis, Abnormal thorax morphology, Bone cyst, Osteoporosis, Abnormal forearm b... |
ORPHA:2583 |
Pigmented Nodular Adrenocortical Disease, Primary, 2 |
|
Osteopenia, Pigmented micronodular adrenocortical disease, Paradoxical increased cortisol secreti... |
OMIM:610475 |
Oncogenic Osteomalacia |
|
Abnormal pelvis bone morphology, Abnormality of the tarsal bones, Fibrous dysplasia of the bones,... |
ORPHA:352540 |
Mpi-Cdg |
|
Hepatomegaly, Portal hypertension, Hypoalbuminemia, Hepatic fibrosis, Hyperinsulinemic hypoglycem... |
ORPHA:79319 |
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type |
|
Micromelia, Bowing of the legs, Metaphyseal widening, Femoral bowing, Narrow greater sciatic notc... |
OMIM:608728 |
Blue Diaper Syndrome |
|
Abnormal circulating tryptophan concentration, Hypercalcemia |
OMIM:211000 |
Achondrogenesis Type 1A |
|
Multiple rib fractures, Severe short stature, Recurrent fractures, Micromelia, Abnormal enchondra... |
ORPHA:93299 |
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14 |
|
Small for gestational age, Short stature, Maturity-onset diabetes of the young, Micrognathia, Pre... |
ORPHA:96184 |
Osteosclerosis With Ichthyosis And Fractures |
|
Increased bone mineral density, Recurrent fractures, Femoral bowing, Tibial bowing, Cortical thic... |
OMIM:166740 |
Laron Syndrome |
|
Hypoplasia of penis, Severe short stature, Hypoglycemia, Micrognathia, Abnormality of the endocri... |
ORPHA:633 |
Diffuse Neonatal Hemangiomatosis |
|
Hepatomegaly, Renal insufficiency, Hypercalcemia, Renal hypoplasia/aplasia, Anemia, Abnormal vagi... |
ORPHA:2123 |
Osteopetrosis, Autosomal Dominant 2 |
|
Recurrent fractures, Mandibular osteomyelitis, Fractures of the long bones, Generalized osteoscle... |
OMIM:166600 |
Angioosteohypotrophic Syndrome |
|
Abnormal trabecular bone morphology, Hypoplasia of the ulna, Short humerus, Aplasia/hypoplasia in... |
ORPHA:75508 |
Calvarial Doughnut Lesions With Bone Fragility |
|
Osteopenia, Severe short stature, Recurrent fractures, Osteoporosis, Femoral bowing, Platyspondyl... |
OMIM:126550 |
Gracile Bone Dysplasia |
|
Short stature, Asplenia, Flared metaphysis, Hypoplastic spleen, Decreased skull ossification, Sle... |
OMIM:602361 |
Diastrophic Dysplasia |
|
Abnormal clavicle morphology, Proximal placement of thumb, Micromelia, Symphalangism affecting th... |
ORPHA:628 |
Tibial Aplasia-Ectrodactyly Syndrome |
|
Finger syndactyly, Short femur, Preaxial hand polydactyly, Postaxial hand polydactyly, Limitation... |
ORPHA:3329 |
Hypoplastic Femurs And Pelvis |
|
Short femur, Hypoplastic pelvis |
OMIM:619545 |
Osteoporosis, Childhood- Or Juvenile-Onset, With Developmental Delay |
|
Osteopenia, Recurrent fractures |
OMIM:619884 |
Osteoporosis-Pseudoglioma Syndrome |
|
Osteopenia, Joint laxity, Crumpled long bones, Short stature, Metaphyseal widening, Osteoporosis,... |
ORPHA:2788 |
Spondyloepiphyseal Dysplasia, Kondo-Fu Type |
|
Short stature, Small for gestational age, Kyphosis, Reduced bone mineral density, Pectus carinatu... |
OMIM:618392 |
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome |
|
Hyponatremia, Pancytopenia, Diabetes mellitus, Hypomagnesemia, Thrombocytopenia, Leukopenia, Hype... |
OMIM:613845 |
3-Methylglutaconic Aciduria Type 1 |
|
Hepatomegaly, Failure to thrive, Hypoglycemia |
ORPHA:67046 |
Metaphyseal Chondrodysplasia, Schmid Type |
|
Metaphyseal chondrodysplasia, Metaphyseal widening, Coxa vara, Femoral bowing, Metaphyseal cuppin... |
OMIM:156500 |
Familial Expansile Osteolysis |
|
Bowing of the long bones, Bone pain, Osteolysis, Pathologic fracture, Thin bony cortex |
OMIM:174810 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 5 |
|
Increased serum pyruvate, Hypoglycemia, Small for gestational age, Hyperammonemia, Elevated circu... |
OMIM:615160 |
Hyperinsulinism Due To Ucp2 Deficiency |
|
Hepatomegaly, Reactive hypoglycemia, Large for gestational age, Hypoglycemic seizures, Decreased ... |
ORPHA:276556 |
Osteogenesis Imperfecta, Type Xviii |
|
Joint laxity, Thin bony cortex, Bowing of the long bones, Recurrent fractures, Thin ribs, Femoral... |
OMIM:617952 |
Granulomatous Slack Skin |
|
Nephrocalcinosis, Acute kidney injury, Hypercalcemia, Abnormal lymph node morphology |
ORPHA:33111 |
Malignant Hyperthermia, Susceptibility To, 1 |
|
Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration |
OMIM:145600 |
Heart Defects-Limb Shortening Syndrome |
|
Mesomelic/rhizomelic limb shortening, Accelerated skeletal maturation, Kyphosis, Disproportionate... |
ORPHA:1354 |
2P21 Microdeletion Syndrome |
|
Hypoglycemia, Nephrolithiasis, Cystinuria, Growth delay, Hypogonadism, Hypocalcemia, Failure to t... |
ORPHA:163693 |
Osteogenesis Imperfecta, Type Xii |
|
Hyperextensibility of the finger joints, Short stature, Recurrent fractures, Bowing of the legs, ... |
OMIM:613849 |
Pigmented Nodular Adrenocortical Disease, Primary, 1 |
|
Osteopenia, Increased urinary cortisol level, Decreased circulating dehydroepiandrosterone concen... |
OMIM:610489 |
Slc39A13-Related Spondylodysplastic Ehlers-Danlos Syndrome |
|
Osteopenia, Failure to thrive, Flexion contracture, Thin skin |
ORPHA:157965 |
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy |
|
Joint laxity, Hypoglycemia, Small for gestational age, Conjugated hyperbilirubinemia, Intrahepati... |
OMIM:617093 |
Addison Disease |
|
Normocytic anemia, Decreased circulating cortisol level, Adrenal calcification, Adrenal hypoplasi... |
ORPHA:85138 |
Familial Partial Lipodystrophy, Dunnigan Type |
|
Hepatomegaly, Aplasia/Hypoplasia of the skin, Diabetes mellitus, Hypertriglyceridemia, Splenomega... |
ORPHA:2348 |
Alg6-Cdg |
|
Puberty and gonadal disorders, Jaundice, Decreased LDL cholesterol concentration, Increased circu... |
ORPHA:79320 |
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency |
|
Elevated circulating creatine kinase concentration, Ketotic hypoglycemia, Dysmenorrhea, Increased... |
ORPHA:79240 |
Geroderma Osteodysplasticum |
|
Osteopenia, Hyperextensibility of the finger joints, Beaking of vertebral bodies, Severe short st... |
OMIM:231070 |
Femoral-Facial Syndrome |
|
Short femur, Short stature, Maternal diabetes, Micrognathia, Renal hypoplasia/aplasia, Cryptorchi... |
ORPHA:1988 |
Glycogen Storage Disease Ixb |
|
Hepatomegaly, Hypoglycemia, Splenomegaly, Hyperuricemia, Increased hepatic glycogen content |
OMIM:261750 |
Mandibuloacral Dysplasia |
|
Hypertriglyceridemia, Increased circulating free fatty acid level, Insulin resistance, Insulin-re... |
ORPHA:2457 |
Osteogenesis Imperfecta, Type Iv |
|
Short stature, Recurrent fractures, Biconcave flattened vertebrae, Kyphosis, Reduced bone mineral... |
OMIM:166220 |
Epiphyseal Dysplasia, Multiple, 7 |
|
Epiphyseal dysplasia, Monkey wrench femoral neck, Advanced ossification of carpal bones, Flat ace... |
OMIM:617719 |
Wormian Bone-Multiple Fractures-Dentinogenesis Imperfecta-Skeletal Dysplasia |
|
Short stature, Limitation of joint mobility, Upper limb undergrowth, Short foot, Toe clinodactyly... |
ORPHA:166277 |
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia |
|
Short stature, Elevated circulating creatine kinase concentration, Hyperlordosis, Osteolysis, Inc... |
ORPHA:52430 |
Greenberg Dysplasia |
|
Micromelia, Beaded ribs, Multiple prenatal fractures, Patchy variation in bone mineral density, T... |
OMIM:215140 |
Immunodeficiency 43 |
|
Recurrent respiratory infections, Lung abscess, Subcutaneous nodule, Bronchiectasis, Decreased ci... |
OMIM:241600 |
Hyperparathyroidism 2 With Jaw Tumors |
|
Hyperparathyroidism, Pancreatic adenocarcinoma, Hypercalcemia, Hurthle cell thyroid adenoma, Neph... |
OMIM:145001 |
Hemochromatosis, Neonatal |
|
Hypoglycemia, Increased circulating ferritin concentration, Cholestasis, Hepatocellular necrosis,... |
OMIM:231100 |
Osteopenia-Intellectual Disability-Sparse Hair Syndrome |
|
Osteopenia, Recurrent fractures, Postnatal growth retardation, Delayed skeletal maturation, 2-3 t... |
ORPHA:2324 |
Spondyloepimetaphyseal Dysplasia, Strudwick Type |
|
Brachydactyly, Severe short stature, Club-shaped proximal femur, Anterior rib cupping, Hyperlordo... |
OMIM:184250 |
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Osteopenia, Multiple rib fractures, Short femur, Fractured radius, Small for gestational age, Bea... |
OMIM:616897 |
Spondyloepimetaphyseal Dysplasia, Missouri Type |
|
Radial bowing, Rhizomelia, Irregular sclerotic endplates, Osteoarthritis, Ulnar bowing, Flared me... |
OMIM:602111 |
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency |
|
Elevated circulating creatine kinase concentration, Dysmenorrhea, Increased body weight, Hepatic ... |
ORPHA:264580 |
Acth-Independent Macronodular Adrenal Hyperplasia |
|
Osteopenia, Adrenal hyperplasia, Decreased circulating ACTH concentration, Osteoporosis, Truncal ... |
OMIM:219080 |
Spondyloepimetaphyseal Dysplasia, Irapa Type |
|
Metaphyseal dysplasia, Short metacarpal, Lumbar hyperlordosis, Hypoplastic sacrum, Capitate-hamat... |
OMIM:271650 |
Hypertriglyceridemia 2 |
|
Hypercholesterolemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia |
OMIM:619324 |
Paternal Uniparental Disomy Of Chromosome 1 |
|
Membranoproliferative glomerulonephritis, Proteinuria, Hypercalcemia, Short stature, Recurrent fr... |
ORPHA:251004 |
Glycogen Storage Disease Ixa1 |
|
Hepatomegaly, Hypertriglyceridemia, Hypoglycemia, Splenomegaly, Growth delay, Hyperuricemia, Hype... |
OMIM:306000 |
Pituitary Hormone Deficiency, Combined, 4 |
|
Pituitary dwarfism, Short stature, Hypoglycemia, Severe postnatal growth retardation, Adrenal ins... |
OMIM:262700 |
Dent Disease 2 |
|
Elevated circulating creatine kinase concentration, Hypophosphatemia |
OMIM:300555 |
Short Stature, Dauber-Argente Type |
|
Osteopenia, Long toe, Short stature, Arachnodactyly, Decreased fibular diameter, Postnatal growth... |
OMIM:619489 |
Craniodiaphyseal Dysplasia |
|
Diaphyseal thickening, Craniofacial hyperostosis, Abnormal rib morphology, Short stature |
ORPHA:1513 |
Multiple Epiphyseal Dysplasia, Al-Gazali Type |
|
Short stature, Pectus excavatum, Delayed epiphyseal ossification, Cutaneous syndactyly, Genu valg... |
ORPHA:166024 |
Spondyloepiphyseal Dysplasia Congenita |
|
Abnormally ossified vertebrae, Short femur, Limited elbow movement, Micrognathia, Abnormal foot m... |
ORPHA:94068 |
Spondyloepiphyseal Dysplasia Tarda, Kohn Type |
|
Short stature, Restricted large joint movement, Disproportionate short-trunk short stature, Platy... |
ORPHA:163665 |
Linear Verrucous Nevus Syndrome |
|
Short metacarpal, Toe syndactyly, Reduced bone mineral density, Scoliosis, Hypophosphatemia |
ORPHA:2611 |
Lymphoproliferative Syndrome, X-Linked, 1 |
|
Recurrent respiratory infections, Hepatomegaly, Pancytopenia, Aplastic anemia, Elevated circulati... |
OMIM:308240 |
Nephrotic Syndrome, Type 2 |
|
Hyperlipidemia, Hypoalbuminemia |
OMIM:600995 |
Fanconi Renotubular Syndrome 5 |
|
Glycosuria, Pulmonary fibrosis, Hypophosphatemia, Hypophosphatemic rickets, Emphysema, Lung adeno... |
OMIM:618913 |
Osteochondrosis Of The Metatarsal Bone |
|
Arthritis, Thickened cortex of bones, Sclerosis of foot bone, Joint stiffness |
ORPHA:564003 |
Myopathy, Tubular Aggregate, 2 |
|
Hypocalcemia, Elevated circulating creatine kinase concentration, Ankle flexion contracture |
OMIM:615883 |
Sclerosteosis |
|
Craniofacial hyperostosis, Increased bone mineral density, Abnormal cortical bone morphology |
ORPHA:3152 |
Hyperparathyroidism 1 |
|
Primary hyperparathyroidism, Hypercalcemia |
OMIM:145000 |
Multiple Myeloma |
|
Osteopenia, Hypercalcemia, Splenomegaly, Elevated circulating creatinine concentration, Weight lo... |
ORPHA:29073 |
Hypocalciuric Hypercalcemia, Familial, Type Iii |
|
Hypercalcemia, Hypermagnesemia, Osteomalacia, Hypophosphatemia |
OMIM:600740 |
Multiple Endocrine Neoplasia, Type I |
|
Prolactinoma, Hypoglycemia, Pancreatic islet cell adenoma, Hypercalcemia, Elevated circulating gr... |
OMIM:131100 |
Osteogenesis Imperfecta, Type Xv |
|
Short stature, Recurrent fractures, Thin ribs, Platyspondyly, Bowing of limbs due to multiple fra... |
OMIM:615220 |
3-Hydroxy-3-Methylglutaryl-Coa Synthase Deficiency |
|
Hypoglycemia |
ORPHA:35701 |
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency |
|
Hypercalcemia, Intermittent generalized erythematous papular rash, Erythematous plaque, Annular c... |
ORPHA:284426 |
Nephrotic Syndrome, Type 15 |
|
Hypoalbuminemia |
OMIM:617609 |
Congenital Generalized Lipodystrophy |
|
Hepatomegaly, Overgrowth of external genitalia, Hypertriglyceridemia, Precocious puberty in femal... |
ORPHA:528 |
Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Calcinosis, Hyperlipidemia, Insulin resistance, Delayed puberty, Osteolysis, Osteolytic defects o... |
ORPHA:90154 |
Reni Syndrome |
|
Diffuse mesangial sclerosis, Hypertriglyceridemia, Proteinuria, Hypoglycemia, Mesangial hypercell... |
OMIM:617575 |
Osteogenesis Imperfecta Congenita, Microcephaly, And Cataracts |
|
Multiple prenatal fractures, Decreased calvarial ossification, Bowing of limbs due to multiple fr... |
OMIM:259410 |
Spondylometaphyseal Dysplasia, Kozlowski Type |
|
Short tubular bones of the hand, Increased intervertebral space, Delayed epiphyseal ossification,... |
ORPHA:93314 |
Hyperparathyroidism, Neonatal Self-Limited Primary, With Hypercalciuria |
|
Hyperparathyroidism, Hypercalcemia, Hypercalciuria, Nephrocalcinosis, Renal tubular acidosis, Fai... |
OMIM:239199 |
Weismann-Netter Syndrome |
|
Bowing of the long bones, Severe short stature, Abnormal morphology of ulna, Abnormality of the h... |
ORPHA:3344 |
Dyggve-Melchior-Clausen Disease |
|
Short neck, Metaphyseal widening, Flat glenoid fossa, Short metatarsal, Pectus carinatum, Femoral... |
OMIM:223800 |
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3 |
|
Joint laxity, Hypoplasia of the ulna, Short stature, Tapered finger, Short neck, Hip dislocation,... |
OMIM:618395 |
Osteosarcoma |
|
Abnormal femoral metaphysis morphology, Osteolysis, Weight loss, Abnormal tibial metaphysis morph... |
ORPHA:668 |
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome |
|
Abnormal clavicle morphology, Bowing of the long bones, Rhizomelia, Proximal placement of thumb, ... |
ORPHA:93267 |
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis |
|
Renal insufficiency, Short stature, Hypercalciuria, Hypophosphatemia, Nephrocalcinosis, Focal seg... |
OMIM:308990 |
Spondylometaphyseal Dysplasia, A4 Type |
|
Severe short stature, Micromelia, Limitation of joint mobility, Coxa vara, Platyspondyly, Flared,... |
ORPHA:168555 |
Spondylometaphyseal Dysplasia, Kozlowski Type |
|
Irregular, rachitic-like metaphyses, Short neck, Coxa vara, Pectus carinatum, Halberd-shaped pelv... |
OMIM:184252 |
Hypergonadotropic Hypogonadism-Cataract Syndrome |
|
Short stature, Recurrent fractures, Delayed skeletal maturation, Osteoporosis, Reduced bone miner... |
ORPHA:2410 |
Gorham-Stout Disease |
|
Osteopenia, Osteomyelitis, Abnormal pelvis bone morphology, Osteolysis involving bones of the upp... |
ORPHA:73 |
Acute Adrenal Insufficiency |
|
Hyponatremia, Normocytic anemia, Decreased circulating cortisol level, Hypoglycemia, Hypercalcemi... |
ORPHA:95409 |
Focal Segmental Glomerulosclerosis 1 |
|
Pleural effusion, Hyperlipidemia, Hypoalbuminemia, Anemia |
OMIM:603278 |
Congenital Disorder Of Glycosylation, Type Ib |
|
Hepatomegaly, Hypoalbuminemia, Hepatic fibrosis, Cirrhosis, Hyperinsulinemic hypoglycemia, Failur... |
OMIM:602579 |
Dysspondyloenchondromatosis |
|
Short stature, Kyphoscoliosis, Osteoarthritis, Generalized joint laxity, Delayed skeletal maturat... |
ORPHA:85198 |
Autosomal Recessive Hypophosphatemic Rickets |
|
Abnormal trabecular bone morphology, Increased bone mineral density, Renal hypophosphatemia, Oste... |
ORPHA:289176 |
Ornithine Transcarbamylase Deficiency |
|
Splenomegaly, Hypoglycemia, Hyperammonemia |
ORPHA:664 |
Osteopetrosis, Autosomal Recessive 1 |
|
Sandwich appearance of vertebral bodies, Increased bone mineral density, Osteomyelitis, Femur fra... |
OMIM:259700 |
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency |
|
Hyponatremia, Decreased circulating cortisol level, Hypoglycemia, Precocious puberty, Hyperkalemi... |
OMIM:614736 |
Ghosal Hematodiaphyseal Dysplasia |
|
Craniofacial hyperostosis, Bowing of the long bones, Abnormal tibia morphology, Abnormal femur mo... |
ORPHA:1802 |
Nephrotic Syndrome, Type 7 |
|
Hemolytic anemia, Hypoalbuminemia, Thrombocytopenia |
OMIM:615008 |
Spondyloepiphyseal Dysplasia Tarda, X-Linked |
|
Barrel-shaped chest, Back pain, Lumbar hyperlordosis, Short neck, Postnatal growth retardation, K... |
OMIM:313400 |
Progressive Pseudorheumatoid Arthropathy Of Childhood |
|
Enlarged epiphyses, Irregularity of vertebral bodies, Abnormal circulating C-reactive protein con... |
ORPHA:1159 |
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency |
|
Hepatomegaly, Hypoglycemia |
OMIM:609016 |
Congenital Lethal Erythroderma |
|
Failure to thrive, Hypoalbuminemia |
ORPHA:1954 |
Fanconi-Bickel Syndrome |
|
Hypouricemia, Osteomalacia, Rickets, Hypophosphatemia, Hypokalemia, Hypergalactosemia, Hyperbilir... |
OMIM:227810 |
Pseudoprogeria Syndrome |
|
Failure to thrive, Decreased body weight, Thin skin, Joint stiffness |
ORPHA:2985 |
Triokinase And Fmn Cyclase Deficiency Syndrome |
|
Hepatomegaly, Failure to thrive in infancy, Microcytic anemia, Hypoalbuminemia, Hepatic steatosis... |
OMIM:618805 |
Kenny-Caffey Syndrome, Type 1 |
|
Short palm, Long clavicles, Proportionate short stature, Thin clavicles, Delayed skeletal maturat... |
OMIM:244460 |
Dysosteosclerosis |
|
Craniofacial hyperostosis, Increased bone mineral density, Short stature, Recurrent fractures, Hy... |
ORPHA:1782 |
Hemophagocytic Lymphohistiocytosis, Familial, 1 |
|
Hyponatremia, Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Increa... |
OMIM:267700 |
Propionic Acidemia |
|
Hepatomegaly, Hypoglycemia, Hyperammonemia |
ORPHA:35 |
Osteofibrous Dysplasia, Susceptibility To |
|
Pectus excavatum, Pathologic fracture, Pseudoarthrosis, Fibular hypoplasia |
OMIM:607278 |
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1 |
|
Calcinosis, Hyperostosis, Subperiosteal bone formation, Hyperphosphatemia |
OMIM:211900 |
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy |
|
Impaired lymphocyte transformation with phytohemagglutinin, Hypertriglyceridemia, Increased circu... |
OMIM:619313 |
Genetic Recurrent Myoglobinuria |
|
Dark urine, Renal insufficiency, Recurrent myoglobinuria, Exercise-induced myoglobinuria, Hyperka... |
ORPHA:99845 |
Wolcott-Rallison Syndrome |
|
Hyponatremia, Hepatomegaly, Neonatal insulin-dependent diabetes mellitus, Jaundice, Neutropenia, ... |
ORPHA:1667 |
Mccune-Albright Syndrome |
|
Abnormal femur morphology, Aneurysmal bone cyst, Hyperthyroidism, Osteomalacia, Precocious pubert... |
ORPHA:562 |
Spondyloepimetaphyseal Dysplasia, Missouri Type |
|
Knee osteoarthritis, Disproportionate short stature, Flared metaphysis, Flattened epiphysis, Femo... |
ORPHA:93356 |
Cystinosis |
|
Portal hypertension, Nephrogenic diabetes insipidus, Rickets, Hypokalemia, Hypophosphatemia, Type... |
ORPHA:213 |
Hyperinsulinemic Hypoglycemia, Familial, 5 |
|
Elevated circulating insulin:C-peptide ratio, Fasting hyperinsulinemia, Hypoglycemic seizures, Hy... |
OMIM:609968 |
Exostoses-Anetodermia-Brachydactyly Type E Syndrome |
|
Macule, Aplasia/Hypoplasia of the skin, Dermal atrophy |
ORPHA:1962 |
Dent Disease |
|
Renal hypophosphatemia, Osteomalacia, Elevated circulating creatine kinase concentration, Recurre... |
ORPHA:1652 |
Hypoglycemia, Leucine-Induced |
|
Hypoglycemia, Hyperinsulinemic hypoglycemia |
OMIM:240800 |
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Abnormal blood ion concentration, Iron deficiency anemia, Hypoalbuminemia, Hypocalcemia, Neutrope... |
ORPHA:37042 |
Osteopetrosis, Autosomal Recessive 9 |
|
Increased bone mineral density, Cortical sclerosis, Postnatal growth retardation, Elevated circul... |
OMIM:620366 |
Chylomicron Retention Disease |
|
Decreased LDL cholesterol concentration, Hypotriglyceridemia, Hypoalbuminemia, Hypocholesterolemi... |
OMIM:246700 |
Coenzyme Q10 Deficiency, Primary, 3 |
|
Hypoalbuminemia |
OMIM:614652 |
Congenital Disorder Of Glycosylation, Type Ih |
|
Hepatomegaly, Thrombocytopenia, Elevated circulating creatinine concentration, Cholestasis, Hypoa... |
OMIM:608104 |
Grant Syndrome |
|
Bowing of the long bones, Short stature, Abnormal cortical bone morphology, Abnormal rib morpholo... |
ORPHA:2097 |
Oculoskeletodental Syndrome |
|
Metaphyseal dysplasia, Short stature, Hypercalcemia, Nephrocalcinosis, Short 5th finger, Hypocalc... |
ORPHA:557003 |
Hypercholanemia, Familial 1 |
|
Rickets, Increased serum bile acid concentration, Steatorrhea |
OMIM:607748 |
Infantile Systemic Hyalinosis |
|
Osteopenia, Osteomalacia, Recurrent fractures, Camptodactyly of finger, Joint stiffness, Osteopor... |
ORPHA:2176 |
Spondyloepimetaphyseal Dysplasia, Shohat Type |
|
Bowing of the legs, Short neck, Delayed epiphyseal ossification, Metaphyseal widening, Abnormal v... |
ORPHA:93352 |
Lipodystrophy, Generalized, With Mental Retardation, Deafness, Short Stature, And Slender Bones |
|
Osteopenia, Failure to thrive, Short stature, Small for gestational age, Delayed skeletal maturat... |
OMIM:608154 |
Dwarfism, Low-Birth-Weight Type, With Unresponsiveness To Growth Hormone |
|
Hypoglycemia |
OMIM:223500 |
Sitosterolemia 2 |
|
Hypercholesterolemia, Elevated circulating sitosterol concentration |
OMIM:618666 |
Congenital Disorder Of Glycosylation, Type Ig |
|
Short humerus, Short femur, Small for gestational age, Hypospadias, Rhizomelia, Sandal gap, Small... |
OMIM:607143 |
Silver-Russell Syndrome 2 |
|
Thin skin, Neonatal hypoglycemia |
OMIM:618905 |
Homozygous 11P15-P14 Deletion Syndrome |
|
Failure to thrive, Hyperinsulinemia, Hypoglycemia |
OMIM:606528 |
Parathyroid Carcinoma |
|
Hyperparathyroidism, Parathyroid carcinoma, Hypercalcemia |
OMIM:608266 |
Spastic Paraplegia-Paget Disease Of Bone Syndrome |
|
Increased spinal bone density, Bone pain, Recurrent fractures |
ORPHA:329475 |
Greenberg Dysplasia |
|
Abnormally ossified vertebrae, Rhizomelia, Micromelia, Abnormal pelvis bone ossification, Anterio... |
ORPHA:1426 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 11 |
|
Recurrent upper respiratory tract infections, Hypoglycemia, Pancreatitis, Hyperammonemia |
OMIM:620137 |
Dyggve-Melchior-Clausen Disease |
|
Glenoid fossa hypoplasia, Short neck, Coxa vara, Pectus carinatum, Broad ribs, Rhizomelia, Iliac ... |
ORPHA:239 |
Mesomelic Dysplasia, Kantaputra Type |
|
Short stature, Camptodactyly of finger, Tarsal synostosis, Abnormality of the humerus, Abnormal r... |
ORPHA:1836 |
Glucocorticoid Deficiency 3 |
|
Recurrent hypoglycemia |
OMIM:609197 |
Orthostatic Hypotension 1 |
|
Joint hypermobility, Reduced circulating prolactin concentration, Increased blood urea nitrogen, ... |
OMIM:223360 |
Uremic Pruritus |
|
Renal hypophosphatemia, Hypercalcemia, Hypermagnesemia, Increased blood urea nitrogen, Papule |
ORPHA:94059 |
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency |
|
Elevated circulating growth hormone concentration, Large for gestational age, Abnormal response t... |
ORPHA:79644 |
Marshall-Smith Syndrome |
|
Bowing of the long bones, Craniosynostosis, Accelerated skeletal maturation, Increased susceptibi... |
ORPHA:561 |
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type) |
|
Hepatomegaly, Hypoglycemia, Elevated circulating alpha-fetoprotein concentration, Portal hyperten... |
OMIM:251880 |
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia |
|
11 pairs of ribs, Rhizomelia, Short stature, Metaphyseal cupping of proximal phalanges, Thin ribs... |
OMIM:300863 |
Focal Segmental Glomerulosclerosis 6 |
|
Hypoalbuminemia |
OMIM:614131 |
Combined Oxidative Phosphorylation Deficiency 52 |
|
Hypoglycemia, Elevated circulating creatine kinase concentration, Hyperamylasemia, Adrenal insuff... |
OMIM:619386 |
Spinocerebellar Ataxia With Axonal Neuropathy Type 1 |
|
Hypercholesterolemia, Hypoalbuminemia |
ORPHA:94124 |
Hyperinsulinemic Hypoglycemia, Familial, 1 |
|
Large for gestational age, Pancreatic islet-cell hyperplasia, Hypoglycemic seizures, Hyperinsulin... |
OMIM:256450 |
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures |
|
Short neck, Delayed proximal femoral epiphyseal ossification, Flexion contracture, Metaphyseal wi... |
OMIM:271640 |
Generalized Pustular Psoriasis |
|
Hyponatremia, Elevated circulating C-reactive protein concentration, Overweight, Leukocytosis, Ob... |
ORPHA:247353 |
Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Hyperlipidemia, Flexion contracture, Limitation of joint mobility, Osteolysis, Insulin resistance... |
ORPHA:90153 |
Nephrotic Syndrome, Type 9 |
|
Hypoalbuminemia |
OMIM:615573 |
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type |
|
Micromelia, Short neck, Narrow chest, Neonatal short-limb short stature, Severe limb shortening, ... |
OMIM:151210 |
Xanthomatosis, Susceptibility To |
|
Hypercholesterolemia |
OMIM:602247 |
Non-Functioning Paraganglioma |
|
Paraganglioma of head and neck, Hypercalcemia, Elevated urinary norepinephrine level, Elevated ur... |
ORPHA:94080 |
Opsismodysplasia |
|
Short neck, Hypoplastic vertebral bodies, Narrow chest, Short palm, Short phalanx of finger, Shor... |
OMIM:258480 |
Cole-Carpenter Syndrome 2 |
|
Osteopenia, Short stature, Recurrent fractures, Pectus excavatum, Postnatal growth retardation, K... |
OMIM:616294 |
Congenital Disorder Of Glycosylation, Type Iio |
|
Hepatomegaly, Decreased circulating ceruloplasmin concentration, Elevated circulating creatine ki... |
OMIM:616828 |
Fructose And Galactose Intolerance |
|
Hypoglycemia |
OMIM:229500 |
Congenital Enterocyte Heparan Sulfate Deficiency |
|
Abnormal circulating protein concentration, Abnormal circulating polysaccharide concentration, Hy... |
ORPHA:103910 |
Galloway-Mowat Syndrome 6 |
|
Hypothyroidism, Hypoalbuminemia, Decreased response to growth hormone stimulation test, Decreased... |
OMIM:618347 |
Silver-Russell Syndrome Due To An Imprinting Defect Of 11P15 |
|
Small for gestational age, Abnormal external genitalia, Short stature, Lower limb asymmetry, Post... |
ORPHA:231140 |
Hereditary Sensory And Autonomic Neuropathy Type 2 |
|
Abnormal cortical bone morphology, Osteolysis, Foot acroosteolysis, Reduced bone mineral density |
ORPHA:970 |
Hyperinsulinemic Hypoglycemia, Familial, 3 |
|
Diabetes mellitus, Hypoglycemic seizures, Hyperinsulinemic hypoglycemia |
OMIM:602485 |
Mucopolysaccharidosis Type 4 |
|
Bowing of the long bones, Short stature, Coxa valga, Short neck, Hyperlordosis, Delayed skeletal ... |
ORPHA:582 |
Glycogen Storage Disease Iii |
|
Hepatomegaly, Hypoglycemia, Elevated circulating creatine kinase concentration, Hyperlipidemia, H... |
OMIM:232400 |
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1 |
|
Hypercholesterolemia, Hypoalbuminemia |
OMIM:607250 |
Metaphyseal Dysostosis, Impaired Intellectual Development, And Conductive Deafness |
|
Metaphyseal widening, Flat glenoid fossa, Coxa vara, Short palm, Genu varum, Joint laxity, Lumbar... |
OMIM:250420 |
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 5 |
|
Ankle flexion contracture, Hypoglycemia, Elevated circulating creatine kinase concentration, Hype... |
OMIM:618120 |
Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency |
|
Failure to thrive, Hypoglycemia, Anemia |
OMIM:610090 |
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome |
|
Recurrent fractures, Micromelia, Abnormal rib morphology, Joint hyperflexibility, Decreased calva... |
ORPHA:2772 |
Multiple Endocrine Neoplasia Type 4 |
|
Hyperparathyroidism, Pituitary corticotropic cell adenoma, Fasting hyperinsulinemia, Elevated cir... |
ORPHA:276152 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 4 |
|
Hepatomegaly, Hypoglycemia, Decreased plasma free carnitine, Hyperalaninemia, Failure to thrive, ... |
OMIM:619048 |
Macrophage Activation Syndrome |
|
Hepatomegaly, Hypertriglyceridemia, Elevated circulating C-reactive protein concentration, Increa... |
ORPHA:158061 |
Cole-Carpenter Syndrome |
|
Crumpled long bones, Bowing of the long bones, Short stature, Recurrent fractures, Kyphosis, Abno... |
ORPHA:2050 |
Bartter Syndrome, Type 1, Antenatal |
|
Osteopenia, Hyperparathyroidism, Increased serum prostaglandin E2, Renal salt wasting, Nephrocalc... |
OMIM:601678 |
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy |
|
Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Diabetes mellitus, A... |
ORPHA:280365 |
Primary Intestinal Lymphangiectasia |
|
Peritoneal effusion, Weight loss, Intestinal lymphangiectasia, Reduced proportion of CD4+ effecto... |
ORPHA:90362 |
Dermatosparaxis Ehlers-Danlos Syndrome |
|
Osteopenia, Osteomalacia, Joint stiffness, Osteoporosis, Rickets, Joint hyperflexibility |
ORPHA:1901 |
Cutis Laxa, Autosomal Recessive, Type Iiia |
|
Joint hypermobility, Low plasma citrulline, Hyperammonemia, Hypoprolinemia, Hypoornithinemia, Thi... |
OMIM:219150 |
Absence Of Fingerprints-Congenital Milia Syndrome |
|
Milia, Camptodactyly of finger, Thin skin |
ORPHA:1658 |
Jeune Syndrome |
|
Abnormal clavicle morphology, Toe syndactyly, Short stature, Micromelia, Postaxial hand polydacty... |
ORPHA:474 |
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type |
|
Hepatomegaly, Increased bone mineral density, Splenomegaly, Aplasia/Hypoplasia of the lungs, Abno... |
ORPHA:2204 |
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form |
|
Failure to thrive, Nevus, Decreased serum iron, Skin erosion, Flexion contracture, Delayed pubert... |
ORPHA:89842 |
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency |
|
Small for gestational age, Short stature, Hypoglycemia, Micrognathia, Postnatal growth retardatio... |
ORPHA:73272 |
Acrogeria |
|
Joint hyperflexibility, Aplasia/Hypoplasia of the skin, Thin skin, Skin ulcer |
ORPHA:2500 |
X-Linked Agammaglobulinemia |
|
Osteomyelitis, Abnormality of the tonsils, Thrombocytopenia, Abnormal lung morphology, Recurrent ... |
ORPHA:47 |
Rajab Interstitial Lung Disease With Brain Calcifications 1 |
|
Osteopenia, Reduced bone mineral density, Hypoalbuminemia, Hypocalcemia, Emphysema, Hepatic steat... |
OMIM:613658 |
Pycnodysostosis |
|
Abnormal clavicle morphology, Generalized osteosclerosis, Narrow chest, Hypoplastic iliac wing, J... |
ORPHA:763 |
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss |
|
Splenomegaly, Jaundice, Cholestasis, Hepatic fibrosis, Hypocalcemia, Hepatic bridging fibrosis, E... |
OMIM:619658 |
Congenital Hyperinsulinism Due To Hnf4A Deficiency |
|
Hepatomegaly, Large for gestational age, Abnormal circulating fatty-acid concentration, Hyperinsu... |
ORPHA:263455 |
Hypochondroplasia |
|
Bowing of the long bones, Brachydactyly, Micromelia, Hyperlordosis, Short toe, Osteoarthritis, Ab... |
ORPHA:429 |
Cholesterol-Ester Transfer Protein Deficiency |
|
Hyperlipidemia, Increased HDL cholesterol concentration, Hypercholesterolemia, Hypotriglyceridemi... |
ORPHA:79506 |
Craniodiaphyseal Dysplasia, Autosomal Dominant |
|
Craniofacial hyperostosis, Thickened ribs, Short stature, Cortical sclerosis, Craniofacial osteos... |
OMIM:122860 |
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type) |
|
Hepatomegaly, Conjugated hyperbilirubinemia, Microvesicular hepatic steatosis, Jaundice, Depletio... |
OMIM:618528 |
Osteoporosis-Pseudoglioma Syndrome |
|
Barrel-shaped chest, Osteopenia, Short stature, Recurrent fractures, Kyphoscoliosis, Kyphosis, Me... |
OMIM:259770 |
Idiopathic Steroid-Resistant Nephrotic Syndrome |
|
Diffuse mesangial sclerosis, Abnormal circulating lipid concentration, Hypertriglyceridemia, Foam... |
ORPHA:567548 |
Aplasia Cutis Congenita Of Limbs, Autosomal Recessive |
|
Aplasia cutis congenita, Congenital absence of skin of limbs |
OMIM:600360 |
Ollier Disease |
|
Micromelia, Joint stiffness, Abnormal cartilage morphology, Bone pain, Osteolysis, Multiple encho... |
ORPHA:296 |
Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome |
|
Hypoplastic scapulae, Short femur, Rhizomelia, Dumbbell-shaped long bone, Micrognathia, Micromeli... |
ORPHA:440354 |
Hypotonia-Cystinuria Syndrome |
|
Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Postnatal ... |
OMIM:606407 |
Atelosteogenesis Type Ii |
|
Micromelia, Micrognathia, Tracheobronchomalacia, Short phalanx of finger, Hypoplastic cervical ve... |
ORPHA:56304 |
Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development |
|
Hypoplasia of the ulna, Short femur, Short stature, Absent thumb, Cryptorchidism, Fibular hypopla... |
OMIM:612447 |
Glycogen Storage Disease 0, Liver |
|
Postprandial hyperglycemia, Neonatal hypoglycemia, Fasting hypoglycemia |
OMIM:240600 |
Hypercholanemia, Familial, 2 |
|
Osteopenia, Increased serum bile acid concentration, Unconjugated hyperbilirubinemia |
OMIM:619256 |
Mehmo Syndrome |
|
Small for gestational age, Decreased response to growth hormone stimulation test, Hypoglycemia, O... |
OMIM:300148 |
Hyperlipoproteinemia, Type Ii, And Deafness |
|
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia |
OMIM:144300 |
Familial Osteodysplasia, Anderson Type |
|
Recurrent fractures, Aplastic clavicle, Missing ribs, Kyphosis, Abnormal rib morphology, Bifid fe... |
ORPHA:2769 |
Campomelic Dysplasia |
|
11 pairs of ribs, Poorly ossified cervical vertebrae, Bowing of the long bones, Short stature, Sm... |
ORPHA:140 |
Pearson Syndrome |
|
Decreased response to growth hormone stimulation test, Renal cyst, Abnormality of the liver, Hypo... |
ORPHA:699 |
Osteogenesis Imperfecta, Type Xvii |
|
Joint laxity, Short stature, Recurrent fractures, Bowed humerus, Kyphoscoliosis, Osteoporosis, Hi... |
OMIM:616507 |
Cholesteryl Ester Storage Disease |
|
Hepatomegaly, Hypertriglyceridemia, Adrenal calcification, Splenomegaly, Jaundice, Cirrhosis, Hyp... |
ORPHA:75234 |
Hepatoportal Sclerosis |
|
Portal hypertension, Nodular regenerative hyperplasia of liver, Portal vein thrombosis, Hypersple... |
ORPHA:64743 |
Metaphyseal Dysplasia, Braun-Tinschert Type |
|
Osteopenia, Broad tibial metaphyses, Tibial bowing, Humerus varus, Exostoses of the ulna, Scleros... |
ORPHA:85188 |
Interstitial Nephritis, Karyomegalic |
|
Glycosuria, Elevated circulating creatinine concentration, Increased blood urea nitrogen |
OMIM:614817 |
Cholestasis, Progressive Familial Intrahepatic, 5 |
|
Hypoglycemia, Elevated circulating alpha-fetoprotein concentration, Conjugated hyperbilirubinemia... |
OMIM:617049 |
Short Stature, Brussels Type |
|
Short stature, Delayed epiphyseal ossification, Growth delay, Narrow chest, Calcification of cart... |
ORPHA:2867 |
Achondrogenesis Type 1B |
|
Severe short stature, Micromelia, Abnormal enchondral ossification, Short neck, Short thorax, Abn... |
ORPHA:93298 |
Post-Traumatic Pituitary Deficiency |
|
Osteopenia, Hypogonadotropic hypogonadism, Decreased response to growth hormone stimulation test,... |
ORPHA:95619 |
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome) |
|
T lymphocytopenia, Hypocalcemia |
DECIPHER:16 |
Cholesteryl Ester Storage Disease |
|
Decreased HDL cholesterol concentration, Adrenal calcification, Bone-marrow foam cells, Leukopeni... |
OMIM:278000 |
Primary Membranoproliferative Glomerulonephritis |
|
Hypoalbuminemia |
ORPHA:54370 |
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 2 |
|
Periostosis, Hyperostosis, Hypoalbuminemia |
OMIM:614441 |
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3 |
|
Osteopenia, Joint laxity, Camptodactyly of finger, Cigarette-paper scars, Thin skin, Webbed neck,... |
OMIM:612350 |
Pyridoxal Phosphate-Responsive Seizures |
|
Pyridoxine-responsive sideroblastic anemia, Hypoglycemia, Abnormal circulating glycine concentrat... |
ORPHA:79096 |
Osteogenesis Imperfecta-Retinopathy-Seizures-Intellectual Disability Syndrome |
|
Recurrent fractures |
ORPHA:2773 |
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency |
|
Decreased circulating cortisol level, Neonatal hypoglycemia, Renal salt wasting, Ambiguous genita... |
ORPHA:90791 |
Nephrotic Syndrome, Type 11 |
|
Diffuse mesangial sclerosis, Proteinuria, Arachnodactyly, Minimal change glomerulonephritis, Micr... |
OMIM:616730 |
Hemophagocytic Lymphohistiocytosis, Familial, 2 |
|
Hyponatremia, Hepatomegaly, Pancytopenia, Hypertriglyceridemia, Increased circulating ferritin co... |
OMIM:603553 |
Mitochondrial Pyruvate Carrier Deficiency |
|
Increased serum pyruvate, Hepatomegaly, Hypoglycemia |
OMIM:614741 |
Obesity Due To Melanocortin 4 Receptor Deficiency |
|
Hypertriglyceridemia, Hyperinsulinemia, Obesity, Type II diabetes mellitus, Childhood-onset trunc... |
ORPHA:71529 |
Congenital Disorder Of Glycosylation, Type Iip |
|
Increased LDL cholesterol concentration, Hypercholesterolemia, Decreased circulating ceruloplasmi... |
OMIM:616829 |
Endocardial Fibroelastosis |
|
Hypoplasia of penis, Sandal gap, Hypoglycemia, Micrognathia, Cryptorchidism, Anterior hypopituita... |
ORPHA:2022 |
Parathyroid Carcinoma |
|
Renal insufficiency, Pancreatic adenocarcinoma, Renal hamartoma, Hypercalcemia, Testicular neopla... |
ORPHA:143 |
Mucolipidosis Iii Gamma |
|
Short stature, Increased serum beta-hexosaminidase, Joint stiffness, Flat capital femoral epiphys... |
OMIM:252605 |
Combined Oxidative Phosphorylation Deficiency 10 |
|
Hypoglycemia, Small for gestational age, Hyperammonemia, Hyperalaninemia, Pleural effusion, Failu... |
OMIM:614702 |
Melnick-Needles Syndrome |
|
Craniofacial hyperostosis, Bowing of the long bones, Short stature, Coxa valga, Short thorax, Abn... |
ORPHA:2484 |
Pyruvate Dehydrogenase E3 Deficiency |
|
Hepatomegaly, Elevated circulating branched chain amino acid concentration, Hypoglycemia, Hyperam... |
ORPHA:2394 |
Short Chain Acyl-Coa Dehydrogenase Deficiency |
|
Elevated circulating acylcarnitine concentration, Failure to thrive, Hepatic steatosis, Ketotic h... |
ORPHA:26792 |
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency |
|
Hyperlipidemia, Hyperinsulinemia, Obesity, Hyperglycemia |
ORPHA:329249 |
Cleidocranial Dysplasia |
|
Coxa vara, Narrow chest, Hypoplastic inferior ilia, Clinodactyly of the 5th finger, Spina bifida ... |
ORPHA:1452 |
Multiple Epiphyseal Dysplasia Type 5 |
|
Back pain, Abnormal upper limb epiphysis morphology, Delayed proximal femoral epiphyseal ossifica... |
ORPHA:93311 |
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome |
|
Reactive hypoglycemia, Hyperinsulinemia, Increased body weight, Pancreatic islet-cell hyperplasia... |
ORPHA:276608 |
Hemochromatosis, Type 4 |
|
Hepatomegaly, Diabetes mellitus, Impaired glucose tolerance, Increased circulating ferritin conce... |
OMIM:606069 |
Maffucci Syndrome |
|
Short stature, Recurrent fractures, Bone pain, Osteolysis, Growth delay, Multiple enchondromatosi... |
ORPHA:163634 |
Alpha-Heavy Chain Disease |
|
Hepatomegaly, Splenomegaly, Lymphadenopathy, Hypocalcemia, Anemia |
ORPHA:100025 |
Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Osteopenia, Micrognathia, Flexion contracture, Hyperglycemia, Calcinosis, Hepatomegaly, Short cla... |
OMIM:248370 |
Idiopathic Juvenile Osteoporosis |
|
Recurrent fractures, Kyphosis, Bone pain, Osteoporosis, Vertebral compression fracture |
ORPHA:85193 |
Osteoglophonic Dysplasia |
|
Osteopenia, Short neck, Short metatarsal, Short palm, Short phalanx of finger, Pseudoarthrosis, B... |
OMIM:166250 |
Diabetes Mellitus, Permanent Neonatal, 4 |
|
Small for gestational age, Elevated hemoglobin A1c, Reduced C-peptide level, Diabetic ketoacidosi... |
OMIM:618858 |
X-Linked Ehlers-Danlos Syndrome |
|
Joint hyperflexibility, Thin skin |
ORPHA:75497 |
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type |
|
Short stature, Iliac crest serration, Small for gestational age, Micromelia, Postnatal growth ret... |
OMIM:613320 |
Lipodystrophy Due To Peptidic Growth Factors Deficiency |
|
Aplasia/Hypoplasia of the skin, Cachexia, Joint stiffness, Flexion contracture, Reduced bone mine... |
ORPHA:1979 |
Atelosteogenesis Type I |
|
Short femur, Rhizomelia, Micrognathia, Abnormal ossification involving the femoral head and neck,... |
ORPHA:1190 |
Ehlers-Danlos Syndrome With Platelet Dysfunction From Fibronectin Abnormality |
|
Joint laxity, Thin skin, Striae distensae, Atypical scarring of skin |
OMIM:225310 |
Thanatophoric Dysplasia Type 1 |
|
Bowing of the long bones, Short femur, Micromelia, Joint stiffness, Hypoplastic ilia, Abnormal sa... |
ORPHA:1860 |
Cholestasis, Progressive Familial Intrahepatic, 1 |
|
Osteopenia, Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Conjugated hyperbiliru... |
OMIM:211600 |
B4Galt7-Related Spondylodysplastic Ehlers-Danlos Syndrome |
|
Osteopenia, Flexion contracture, Atypical scarring of skin, Joint hyperflexibility, Atrophic scar... |
ORPHA:75496 |
Smith-Mccort Dysplasia 1 |
|
Short neck, Short phalanx of finger, Genu varum, Barrel-shaped chest, Short metacarpal, Short sta... |
OMIM:607326 |
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 2 |
|
Osteopenia, Pathologic fracture, Bone cyst |
OMIM:618193 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 3 |
|
Hepatomegaly, Hypoglycemia |
OMIM:615158 |
Erythrocyte Lactate Transporter Defect |
|
Elevated circulating creatine kinase concentration |
OMIM:245340 |
Spondylometaphyseal Dysplasia, Pagnamenta Type |
|
Thin bony cortex, Rhizomelia, Delayed skeletal maturation, Femoral bowing, Platyspondyly, Thoraci... |
OMIM:619638 |
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial |
|
Impaired gluconeogenesis, Hypoglycemia, Hepatic steatosis |
OMIM:261650 |
Acropectorovertebral Dysplasia |
|
Finger syndactyly, Toe syndactyly, Bifid distal phalanx of the thumb, Capitate-hamate fusion, Abn... |
OMIM:102510 |
Combined Malonic And Methylmalonic Acidemia |
|
Dicarboxylic acidemia, Failure to thrive, Hypoglycemia, Methylmalonic acidemia |
ORPHA:289504 |
Kniest Dysplasia |
|
Short neck, Delayed epiphyseal ossification, Coxa vara, Tibial bowing, Abnormal cartilage collage... |
OMIM:156550 |
Autosomal Dominant Hypocalcemia |
|
Reduced bone mineral density, Hyperphosphatemia, Hypocalcemia, Hypomagnesemia |
ORPHA:428 |
Spondylometaphyseal Dysplasia, Axial |
|
Rhizomelia, Anterior rib cupping, Short stature, Proximal femoral metaphyseal irregularity, Dispr... |
OMIM:602271 |
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Osteopenia, Hypoglycemic seizures, Nephrocalcinosis, Hypothyroidism, Hepatic steatosis, Tubuloint... |
ORPHA:79259 |
Majeed Syndrome |
|
Increased bone mineral density, Osteomyelitis, Cachexia, Flexion contracture, Bone pain, Synoviti... |
ORPHA:77297 |
Weismann-Netter Syndrome |
|
Severe short stature, Anterior tibial bowing, Kyphosis, Squared iliac bones, Lateral femoral bowi... |
OMIM:112350 |
Neuroleptic Malignant Syndrome |
|
Hyponatremia, Elevated circulating creatine kinase concentration, Leukocytosis, Hyperkalemia, Hyp... |
ORPHA:94093 |
Vipoma |
|
Hepatomegaly, Follicular thyroid carcinoma, Intermittent jaundice, Neoplasm of the liver, Hypokal... |
ORPHA:97282 |
Morgagni-Stewart-Morel Syndrome |
|
Diabetes mellitus, Abnormality of the endocrine system, Abnormality of the thyroid gland, Osteoar... |
ORPHA:77296 |
Distal Myopathy, Tateyama Type |
|
Calf muscle pseudohypertrophy, Calf muscle hypoplasia, Abnormal circulating creatine kinase conce... |
ORPHA:488650 |
Multiple Pterygium Syndrome, X-Linked |
|
Vertebral fusion, Abnormal cervical curvature, Flexion contracture, Increased susceptibility to f... |
OMIM:312150 |
Galloway-Mowat Syndrome 7 |
|
Diffuse mesangial sclerosis, Hallux valgus, Proteinuria, Arachnodactyly, Short stature, Minimal c... |
OMIM:618348 |
Propionic Acidemia |
|
Hepatomegaly, Pancytopenia, Hypoglycemia, Thrombocytopenia, Osteoporosis, Hyperammonemia, Hypergl... |
OMIM:606054 |
Temple Syndrome |
|
Small for gestational age, Decreased response to growth hormone stimulation test, Short stature, ... |
ORPHA:254516 |
Schneckenbecken Dysplasia |
|
Short neck, Lateral clavicle hook, Snail-like ilia, Narrow chest, Dumbbell-shaped long bone, Adva... |
OMIM:269250 |
Holt-Oram Syndrome |
|
Abnormal clavicle morphology, Finger syndactyly, Down-sloping shoulders, Joint stiffness, Pectus ... |
ORPHA:392 |
Pelviscapular Dysplasia |
|
Congenital hip dislocation, Short femur, Hypoplastic scapulae, Hypoplastic ilia, Humeroradial syn... |
ORPHA:93333 |
Thoracolaryngopelvic Dysplasia |
|
Metaphyseal widening, Irregular chondrocostal junctions, Bell-shaped thorax, Narrow pelvis bone, ... |
OMIM:187760 |
Familial Hypocalciuric Hypercalcemia |
|
Renal hypophosphatemia, Hypercalcemia, Osteomalacia, Hypermagnesemia, Hypocalcemic seizures |
ORPHA:405 |
Atelosteogenesis, Type I |
|
Micrognathia, Short metatarsal, Tibial bowing, Knee dislocation, Vertebral hypoplasia, Short meta... |
OMIM:108720 |
Three M Syndrome 1 |
|
Scapular winging, Short stature, Small for gestational age, Short neck, Pectus excavatum, Postnat... |
OMIM:273750 |
Epiphyseal Dysplasia, Multiple, With Miniepiphyses |
|
Epiphyseal dysplasia, Generalized joint laxity, Patellar hypoplasia, Short femoral neck, Irregula... |
OMIM:609325 |
Spondyloepimetaphyseal Dysplasia, Shohat Type |
|
Micromelia, Short neck, Delayed epiphyseal ossification, Coxa vara, Narrow greater sciatic notch,... |
OMIM:602557 |
Short-Rib Thoracic Dysplasia 17 With Or Without Polydactyly |
|
Short stature, Lateral clavicle hook, Postaxial hand polydactyly, Postaxial foot polydactyly, Tri... |
OMIM:617405 |
Glucose-Galactose Malabsorption |
|
Renal insufficiency, Hypercalcemia, Nephrolithiasis, Weight loss, Hematuria, Hypernatremia, Failu... |
ORPHA:35710 |
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities |
|
Hypoglycemia, Small for gestational age, Precocious puberty, Insulin-resistant diabetes mellitus,... |
OMIM:262190 |
Medium Chain Acyl-Coa Dehydrogenase Deficiency |
|
Hepatomegaly, Hypoglycemia, Elevated circulating creatine kinase concentration, Cachexia, Hyperam... |
ORPHA:42 |
Cleidocranial Dysplasia 1 |
|
Short middle phalanx of the 2nd finger, Coxa vara, Narrow chest, Hypoplastic iliac wing, Increase... |
OMIM:119600 |
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency |
|
Hepatomegaly, Elevated circulating creatine kinase concentration, Lymphadenitis, Leukocytosis, Sp... |
OMIM:615895 |
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 |
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency |
|
Decreased circulating cortisol level, Adrenal calcification, Adrenal hypoplasia, Renal salt wasti... |
ORPHA:289548 |
Galloway-Mowat Syndrome 8 |
|
Hypoalbuminemia |
OMIM:618349 |
Glycogen Storage Disease Ixc |
|
Hepatomegaly, Hypertriglyceridemia, Hypoglycemia, Postnatal growth retardation, Splenomegaly, Gro... |
OMIM:613027 |
Hyperparathyroidism-Jaw Tumor Syndrome |
|
Renal insufficiency, Pancreatic adenocarcinoma, Renal hamartoma, Hypercalcemia, Testicular neopla... |
ORPHA:99880 |
Sporadic Pheochromocytoma/Secreting Paraganglioma |
|
Paraganglioma of head and neck, Extraadrenal pheochromocytoma, Proteinuria, Hypercalcemia, Elevat... |
ORPHA:276621 |
Spondylocostal Dysostosis 1, Autosomal Recessive |
|
Back pain, Vertebral fusion, Severe short stature, Short stature, Block vertebrae, Abnormal odont... |
OMIM:277300 |
Combined Oxidative Phosphorylation Deficiency 36 |
|
Hyperalaninemia, Failure to thrive, Hypoglycemia |
OMIM:617950 |
Prolidase Deficiency |
|
Recurrent respiratory infections, Hepatomegaly, Aplasia/Hypoplasia of the skin, Splenomegaly, Ski... |
ORPHA:742 |
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive |
|
Decreased circulating ceruloplasmin concentration, Decreased circulating copper concentration, Hy... |
OMIM:242150 |
Alg1-Cdg |
|
Limitation of joint mobility, Hypoalbuminemia |
ORPHA:79327 |
Cystinosis, Nephropathic |
|
Metaphyseal widening, Aminoaciduria, Renal Fanconi syndrome, Low-molecular-weight proteinuria, Hy... |
OMIM:219800 |
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum |
|
Osteopenia, Abnormal hand morphology, Osteolysis involving bones of the upper limbs, Osteoporosis... |
ORPHA:371428 |
Proteus Syndrome |
|
Epidermal nevus, Splenomegaly, Mandibular hyperostosis, Nevus, Calvarial hyperostosis, Lymphangio... |
OMIM:176920 |
Hypoadrenocorticism, Familial |
|
Hyponatremia, Hypoglycemia, Adrenal hypoplasia, Hyperkalemia, Adrenal insufficiency |
OMIM:240200 |
Monosomy 13Q34 |
|
Pes planus, Metrorrhagia, Hypercalcemia, Micrognathia, Postaxial hand polydactyly, Fetal pyelecta... |
ORPHA:96168 |
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly |
|
Knee flexion contracture, Femoral bowing, Short 5th metacarpal, Radial bowing, Rhizomelia, Broad ... |
OMIM:618019 |
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige |
|
Recurrent respiratory infections, Psoriasiform dermatitis, Hypoalbuminemia, Hypernatremia, Failur... |
OMIM:615508 |
Osteogenesis Imperfecta, Type X |
|
Osteopenia, Joint laxity, Bowing of the long bones, Short femur, Rhizomelia, Micromelia, Microgna... |
OMIM:613848 |
Osteogenesis Imperfecta, Type I |
|
Osteopenia, Recurrent fractures, Biconcave flattened vertebrae, Increased susceptibility to fract... |
OMIM:166200 |
Mucopolysaccharidosis, Type Iva |
|
Short neck, Epiphyseal deformities of tubular bones, Metaphyseal widening, Pectus carinatum, Flar... |
OMIM:253000 |
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome |
|
Hypoparathyroidism, Osteopenia, Hypertriglyceridemia, Hypercalcemia, Craniosynostosis, Micrognath... |
ORPHA:369837 |
Citrullinemia Type Ii |
|
Decreased HDL cholesterol concentration, Acute hyperammonemia, Hypertriglyceridemia, Hepatic stea... |
ORPHA:247585 |
Nephrotic Syndrome, Type 1 |
|
Small for gestational age, Hypothyroidism, Hyperlipidemia, Hypoalbuminemia, Hypoproteinemia |
OMIM:256300 |
Cartilage-Hair Hypoplasia |
|
Micromelia, Accelerated skeletal maturation, Short neck, Metaphyseal chondrodysplasia, Abnormal f... |
ORPHA:175 |
Maturity-Onset Diabetes Of The Young, Type 13 |
|
Diabetes mellitus, Elevated hemoglobin A1c, Maturity-onset diabetes of the young, Maternal diabet... |
OMIM:616329 |
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency |
|
Decreased HDL cholesterol concentration, Hypoalbuminemia, Hepatic steatosis, Hyperthreoninemia, H... |
ORPHA:247598 |
Isobutyryl-Coa Dehydrogenase Deficiency |
|
Elevated circulating acylcarnitine concentration, Ketotic hypoglycemia, Decreased circulating car... |
ORPHA:79159 |
Ivic Syndrome |
|
Hypoplasia of the ulna, Short femur, Limited interphalangeal movement, Limited elbow movement, Li... |
OMIM:147750 |
Hypertriglyceridemia 1 |
|
Hypertriglyceridemia, Increased VLDL cholesterol concentration, Glucose intolerance, Hypopituitar... |
OMIM:145750 |
Atelosteogenesis, Type Ii |
|
Cervical kyphosis, Micromelia, Short neck, Increased intervertebral space, Lumbar hyperlordosis, ... |
OMIM:256050 |
Fibronectin Glomerulopathy |
|
Hypoalbuminemia |
ORPHA:84090 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 12 |
|
Hypoglycemia, Elevated circulating creatine kinase concentration, Small for gestational age, Hypo... |
OMIM:619055 |
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency |
|
Hepatomegaly, Portal hypertension, Flexion contracture, Hepatosplenomegaly, Hypoalbuminemia, Cirr... |
ORPHA:367 |
Achondroplasia |
|
Brachydactyly, Radial bowing, Limited hip extension, Short femur, Rhizomelia, Bowing of the legs,... |
OMIM:100800 |
Fetal Encasement Syndrome |
|
Bilateral trilobed lung, Thin skin |
OMIM:613630 |
Pituitary Hormone Deficiency, Combined, 6 |
|
Decreased thyroid-stimulating hormone level, Ectopic posterior pituitary, Hypoglycemia, Decreased... |
OMIM:613986 |
Dihydrolipoamide Dehydrogenase Deficiency |
|
Increased serum pyruvate, Hepatomegaly, Hypoglycemia |
OMIM:246900 |
Somatostatinoma |
|
Neoplasm of the pancreas, Hepatomegaly, Diabetes mellitus, Hypercalcemia, Elevated circulating gr... |
ORPHA:97283 |
Caffey Disease |
|
Calvarial hyperostosis, Cortical thickening of long bone diaphyses, Cortical irregularity, Perios... |
ORPHA:1310 |
Multiple Endocrine Neoplasia Type 1 |
|
Pituitary corticotropic cell adenoma, Pituitary gonadotropic cell adenoma, Pancreatic endocrine t... |
ORPHA:652 |
Juvenile Hyaline Fibromatosis |
|
Aplasia/Hypoplasia of the skin, Progressive flexion contractures, Joint stiffness, Subcutaneous n... |
ORPHA:2028 |
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia |
|
Hemolytic anemia, Reticulocytosis, Rickets, Hepatosplenomegaly, Decreased mean corpuscular volume... |
OMIM:611590 |
Body Mass Index Quantitative Trait Locus 20 |
|
Increased bone mineral density, Hyperinsulinemia, Obesity |
OMIM:618406 |
Osteogenesis Imperfecta, Type Vii |
|
Osteopenia, Multiple rib fractures, Crumpled long bones, Rhizomelia, Short stature, Recurrent fra... |
OMIM:610682 |
Multiple Pterygium Syndrome, Lethal Type |
|
Vertebral fusion, Abnormal cervical curvature, Flexion contracture, Increased susceptibility to f... |
OMIM:253290 |
Osteogenesis Imperfecta |
|
Osteopenia, Cervical kyphosis, Micromelia, Osteoarthritis, Flexion contracture, Abnormal tibia mo... |
ORPHA:666 |
Diabetes Mellitus, Permanent Neonatal, 1 |
|
Diabetes mellitus, Small for gestational age, Elevated hemoglobin A1c, Reduced C-peptide level, T... |
OMIM:606176 |
3M Syndrome |
|
Congenital hip dislocation, Micromelia, Short neck, Increased vertebral height, Enlarged thorax, ... |
ORPHA:2616 |
Ossification Anomalies-Psychomotor Developmental Delay Syndrome |
|
Postnatal growth retardation, Abnormal thorax morphology, Metaphyseal widening, Abnormal form of ... |
ORPHA:73230 |
Zollinger-Ellison Syndrome |
|
Hyperparathyroidism, Pituitary corticotropic cell adenoma, Elevated circulating parathyroid hormo... |
ORPHA:913 |
Lysinuric Protein Intolerance |
|
Osteopenia, Decreased HDL cholesterol concentration, Decreased response to growth hormone stimula... |
ORPHA:470 |
Kniest Dysplasia |
|
Enlarged epiphyses, Abnormality of the epiphysis of the femoral head, Short neck, Delayed epiphys... |
ORPHA:485 |
Bacterial Toxic-Shock Syndrome |
|
Osteomyelitis, Elevated circulating creatine kinase concentration, Pneumonia, Respiratory tract i... |
ORPHA:36234 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 3 |
|
Increased serum pyruvate, Macrocytic anemia, Splenomegaly, Hyperprolinemia, Hyperalaninemia, Fail... |
OMIM:619046 |
Silver-Russell Syndrome Due To A Point Mutation |
|
Bifid scrotum, Syndactyly, Small for gestational age, Hypospadias, Hypoglycemia, Micrognathia, Po... |
ORPHA:397590 |
Pyle Disease |
|
Limited elbow extension, Thin bony cortex, Reduced bone mineral density |
OMIM:265900 |
Paternal 20Q13.2Q13.3 Microdeletion Syndrome |
|
Skin dimple, Failure to thrive, Thin skin |
ORPHA:261304 |
Spinal muscular atrophy, type I, with congenital bone fractures |
|
Osteopenia, Congenital hip dislocation, Arachnodactyly, Rocker bottom foot, Pectus excavatum, Mul... |
OMIM:271225 |
Autosomal Dominant Spondylocostal Dysostosis |
|
Severe short stature, Missing ribs, Short neck, Hyperlordosis, Abnormal sacrum morphology, Short ... |
ORPHA:1797 |
Short Syndrome |
|
Joint laxity, Small for gestational age, Insulin resistance, Insulin-resistant diabetes mellitus,... |
OMIM:269880 |
Grange Syndrome |
|
Short palm, Syndactyly, Increased susceptibility to fractures |
ORPHA:79094 |
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects |
|
Osteopenia, Accelerated skeletal maturation, Short neck, Pectus carinatum, Shoulder dislocation, ... |
OMIM:245600 |
Wilson Disease |
|
Decreased circulating ceruloplasmin concentration, Osteoarthritis, Hypoalbuminemia, Hepatic steat... |
OMIM:277900 |
Lissencephaly Syndrome, Norman-Roberts Type |
|
Microretrognathia, Rocker bottom foot, Intrauterine growth retardation, Hypoplastic spleen, Adduc... |
ORPHA:89844 |
Lethal Kniest-Like Dysplasia |
|
Abnormal ischium morphology, Broad long bones, Anterior rib cupping, Mesomelic/rhizomelic limb sh... |
ORPHA:2347 |
Arthrogryposis, Distal, Type 2A |
|
Short neck, Knee flexion contracture, Spina bifida occulta, Wrist flexion contracture, Ulnar devi... |
OMIM:193700 |
Hereditary Pheochromocytoma-Paraganglioma |
|
Paraganglioma of head and neck, Extraadrenal pheochromocytoma, Proteinuria, Hypercalcemia, Elevat... |
ORPHA:29072 |
Mucolipidosis Ii Alpha/Beta |
|
Osteopenia, Increased serum beta-hexosaminidase, Metaphyseal widening, Thoracolumbar kyphoscolios... |
OMIM:252500 |
Hemorrhagic Fever-Renal Syndrome |
|
Anuria, Proteinuria, Glomerulonephritis, Thrombocytopenia, Leukocytosis, Chronic kidney disease, ... |
ORPHA:340 |
Primary Fanconi Renotubular Syndrome |
|
Hypouricemia, Osteomalacia, Bicarbonaturia, Hypophosphatemia, Increased susceptibility to fractur... |
ORPHA:3337 |
Congenital Isolated Acth Deficiency |
|
Hyponatremia, Decreased circulating cortisol level, Adrenal hypoplasia, Hyperkalemia, Hepatitis, ... |
ORPHA:199296 |
Hypo- And Hypermelanotic Cutaneous Macules-Retarded Growth-Intellectual Disability Syndrome |
|
Abnormal rib morphology, Short stature |
ORPHA:2435 |
Eosinophilic Gastroenteritis |
|
Eosinophilia, Elevated circulating C-reactive protein concentration, Leukocytosis, Weight loss, H... |
ORPHA:2070 |
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 11 |
|
Small for gestational age, External genital hypoplasia, Hypoglycemia, Lower limb asymmetry, Clino... |
ORPHA:231147 |
Pyruvate Carboxylase Deficiency |
|
Increased serum pyruvate, Hyperalaninemia, Hypoglycemia, Hepatomegaly |
OMIM:266150 |
9Q31.1Q31.3 Microdeletion Syndrome |
|
Short stature, Tapered finger, Overweight, Small hand, Renovascular hypertension, Short clavicles... |
ORPHA:401923 |
Carnitine Palmitoyltransferase Ii Deficiency, Infantile |
|
Hepatomegaly, Elevated circulating creatine kinase concentration, Hyperammonemia, Macrovesicular ... |
OMIM:600649 |
Hyperinsulinemic Hypoglycemia, Familial, 4 |
|
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia |
OMIM:609975 |
Combined Oxidative Phosphorylation Deficiency 41 |
|
Decreased circulating cortisol level, Hypoglycemia, Elevated circulating creatine kinase concentr... |
OMIM:618838 |
Congenital Analbuminemia |
|
Small for gestational age, Hyperlipidemia, Obesity, Increased alpha-globulin, Hypoalbuminemia, Hy... |
ORPHA:86816 |
Dermoodontodysplasia |
|
Thin skin |
OMIM:125640 |
Hyperparathyroidism, Transient Neonatal |
|
Osteopenia, Hyperparathyroidism, Short femur, Recurrent fractures, Metaphyseal spurs, Femoral bow... |
OMIM:618188 |
Smith-Magenis Syndrome |
|
Pes planus, Hypertriglyceridemia, Short stature, Abnormality of the thyroid gland, Abnormal renal... |
OMIM:182290 |
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type) |
|
Hypertyrosinemia, Hypoglycemia, Conjugated hyperbilirubinemia, Microvesicular hepatic steatosis, ... |
OMIM:617156 |
Ataxia-Oculomotor Apraxia 4 |
|
Hypercholesterolemia, Hypoalbuminemia, Obesity, Elevated circulating alpha-fetoprotein concentration |
OMIM:616267 |
Diaphyseal Medullary Stenosis With Malignant Fibrous Histiocytoma |
|
Osteopenia, Stenosis of the medullary cavity of the long bones, Diaphyseal cortical sclerosis, Pa... |
OMIM:112250 |
Cooper-Jabs Syndrome |
|
Short stature, Camptodactyly of finger, Proximal placement of thumb, Missing ribs, Abnormal rib m... |
ORPHA:1488 |
Arthrochalasia Ehlers-Danlos Syndrome |
|
Joint hyperflexibility, Thin skin, Joint stiffness |
ORPHA:1899 |
Bile Acid Conjugation Defect 1 |
|
Conjugated hyperbilirubinemia, Rickets |
OMIM:619232 |
Achondrogenesis, Type Ia |
|
Abnormal femoral metaphysis morphology, Micromelia, Beaded ribs, Bowing of the legs, Abnormal han... |
OMIM:200600 |
Silver-Russell Syndrome 1 |
|
Syndactyly, Urethral valve, Small for gestational age, Hypospadias, Decreased response to growth ... |
OMIM:180860 |
Caffey Disease |
|
Cortical irregularity, Periosteal thickening of long tubular bones, Subperiosteal bone formation,... |
OMIM:114000 |
Glycogen Storage Disease Ia |
|
Hepatomegaly, Hypoglycemia, Hyperlipidemia, Delayed puberty, Osteoporosis, Gout, Xanthelasma, Xan... |
OMIM:232200 |
Spondyloepimetaphyseal Dysplasia, X-Linked, With Hypomyelinating Leukodystrophy |
|
Short neck, Metaphyseal widening, Flexion contracture, Coxa vara, Metaphyseal cupping of metacarp... |
OMIM:300232 |
Fanconi Renotubular Syndrome 3 |
|
Short stature, Bowing of the legs, Elevated circulating creatinine concentration, Rickets, Growth... |
OMIM:615605 |
Bent Bone Dysplasia Syndrome 2 |
|
Osteopenia, Short neck, Femoral bowing, Hypoplastic iliac wing, Short tibia, Ulnar bowing, Corona... |
OMIM:620076 |
Cog4-Cdg |
|
Failure to thrive in infancy, Hepatosplenomegaly, Growth delay, Cirrhosis, Hypercholesterolemia, ... |
ORPHA:263501 |
Kyphomelic Dysplasia |
|
Short humerus, Short metacarpal, Radial bowing, Short femur, Bowed humerus, Micromelia, Micrognat... |
OMIM:211350 |
Schimmelpenning-Feuerstein-Mims Syndrome |
|
Osteopenia, Short stature, Recurrent fractures, Kyphoscoliosis, Abnormal toe morphology, Abnormal... |
OMIM:163200 |
Aicardi-Goutieres Syndrome 9 |
|
Hemolytic anemia, Hepatomegaly, Acute pancreatitis, Portal hypertension, Hypothyroidism, Osteopor... |
OMIM:619487 |
Bile Acid Synthesis Defect, Congenital, 1 |
|
Hepatomegaly, Giant cell hepatitis, Conjugated hyperbilirubinemia, Intrahepatic cholestasis, Jaun... |
OMIM:607765 |
Dopamine Beta-Hydroxylase Deficiency |
|
Hypoglycemia, Insulin resistance, Hyperinsulinemia, Elevated circulating creatinine concentration... |
ORPHA:230 |
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss |
|
Growth delay, Hypokalemia, Failure to thrive, Rickets |
OMIM:602722 |
Classic Galactosemia |
|
Male infertility, Hepatomegaly, Decreased serum insulin-like growth factor 1, Premature ovarian i... |
ORPHA:79239 |
3-Methylglutaconic Aciduria With Deafness, Encephalopathy, And Leigh-Like Syndrome |
|
Hyperalaninemia, Failure to thrive, Hypoglycemia, Hyperammonemia |
OMIM:614739 |
Primary Sclerosing Cholangitis |
|
Osteopenia, Abnormal eosinophil morphology, Hypoalbuminemia, Hepatic fibrosis, Neoplasm of the ga... |
ORPHA:171 |
Riboflavin Deficiency |
|
Elevated circulating acylcarnitine concentration, Hypoglycemia |
OMIM:615026 |
Atypical Werner Syndrome |
|
Sclerosis of hand bone, Fasting hyperinsulinemia, Reduced bone mineral density, Hyperglycemia, Ab... |
ORPHA:79474 |
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 1 |
|
Osteopenia, Accelerated skeletal maturation, Flexion contracture, Pectus carinatum, Narrow chest,... |
OMIM:130070 |
Stormorken Syndrome |
|
Howell-Jolly bodies, Elevated circulating creatine kinase concentration, Short stature, Asplenia,... |
OMIM:185070 |
Smith-Magenis Syndrome |
|
Pes planus, Hypertriglyceridemia, Failure to thrive in infancy, Toe syndactyly, Short stature, Mi... |
ORPHA:819 |
Hydrops, Lactic Acidosis, And Sideroblastic Anemia |
|
Sideroblastic anemia, Extramedullary hematopoiesis, Small for gestational age, Thrombocytopenia, ... |
OMIM:617021 |
Combined Oxidative Phosphorylation Deficiency 37 |
|
Hypoglycemia, Hypoalbuminemia, Macrovesicular hepatic steatosis, Bile duct proliferation, Hyperal... |
OMIM:618329 |
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections |
|
Osteopenia, Recurrent fractures, Craniosynostosis, Scoliosis, Joint hypermobility |
OMIM:147060 |
Hypercholesterolemia, Familial, 4 |
|
Hypercholesterolemia, Hypertriglyceridemia, Decreased LDL cholesterol concentration |
OMIM:603813 |
Spondylocostal Dysostosis 5 |
|
Vertebral fusion, Low back pain, Severe short stature, Missing ribs, Short neck, Disproportionate... |
OMIM:122600 |
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy |
|
Hepatomegaly, Hypothyroidism, Intestinal lymphangiectasia, Iron deficiency anemia, Hypoalbuminemi... |
OMIM:226300 |
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome |
|
Abnormally ossified vertebrae, Radial bowing, Bowing of the long bones, Abnormal rib morphology, ... |
ORPHA:3035 |
Osteopetrosis, Autosomal Recessive 4 |
|
Increased bone mineral density, Recurrent fractures, Growth delay, Osteopetrosis, Sclerotic verte... |
OMIM:611490 |
Drug-Induced Lupus Erythematosus |
|
Elevated circulating creatine kinase concentration, Elevated circulating C-reactive protein conce... |
ORPHA:231111 |
Ehlers-Danlos Syndrome, Cardiac Valvular Type |
|
Joint laxity, Atrophic scars, Thin skin |
OMIM:225320 |
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency |
|
Ketotic hypoglycemia, Hyperlipidemia, Glycosuria, Postprandial hyperglycemia, Failure to thrive |
ORPHA:2089 |
Small Cell Carcinoma Of The Bladder |
|
Hematuria, Hypercalcemia, Recurrent urinary tract infections, Dysuria |
ORPHA:284400 |
S-Adenosylhomocysteine Hydrolase Deficiency |
|
Elevated circulating creatine kinase concentration, Abnormal circulating homocysteine concentrati... |
ORPHA:88618 |
Glycogen Storage Disease Ib |
|
Hepatomegaly, Proteinuria, Pancreatic fibrosis, Short stature, Hypoglycemia, Hepatocellular carci... |
OMIM:232220 |
Spondylodysplastic Ehlers-Danlos Syndrome |
|
Osteopenia, Multiple joint contractures, Generalized joint laxity, Flexion contracture, Metaphyse... |
ORPHA:536471 |
Grfoma |
|
Neoplasm of the thymus, Pheochromocytoma, Hepatomegaly, Intermittent jaundice, Increased circulat... |
ORPHA:97261 |
Juberg-Hayward Syndrome |
|
Severe short stature, Toe syndactyly, Short thumb, Hypoplasia of the radius, Abnormal rib morphol... |
ORPHA:2319 |
Pheochromocytoma--Islet Cell Tumor Syndrome |
|
Cafe-au-lait spot, Pheochromocytoma, Hypercalcemia |
OMIM:171420 |
Lipodystrophy, Familial Partial, Type 3 |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Maternal diabetes, Insulin resista... |
OMIM:604367 |
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome |
|
Osteopenia, Short fourth metatarsal, Short neck, Tibial metaphyseal irregularity, Coxa vara, Flat... |
ORPHA:457395 |
Neurogenic Thoracic Outlet Syndrome |
|
Abnormal rib morphology |
ORPHA:100073 |
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome |
|
Osteopenia, Multiple joint contractures, Metaphyseal widening, Anterior atlanto-occipital disloca... |
ORPHA:536467 |
Cerebroretinal Microangiopathy With Calcifications And Cysts 1 |
|
Osteopenia, Bowing of the long bones, Short stature, Postnatal growth retardation, Metaphyseal sc... |
OMIM:612199 |
Hypocalciuric Hypercalcemia, Familial, Type I |
|
Hyperparathyroidism, Hypercalcemia, Hypermagnesemia, Hypercalciuria, Nephrolithiasis, Hypocalciur... |
OMIM:145980 |
Craniometadiaphyseal Dysplasia, Wormian Bone Type |
|
Osteopenia, Increased bone mineral density, Broad femoral neck, Short tubular bones of the hand, ... |
ORPHA:85184 |
Pancreatic Triacylglycerol Lipase Deficiency |
|
Osteoporosis, Osteomalacia, Steatorrhea, Rickets |
ORPHA:309031 |
Spondyloepimetaphyseal Dysplasia, X-Linked |
|
Anterior wedging of T12, Pectus carinatum, Long fibula, Short palm, Short phalanx of finger, Broa... |
OMIM:300106 |
Isolated Klippel-Feil Syndrome |
|
Short neck, Abnormal sacrum morphology, Abnormal rib morphology, Abnormal shoulder morphology, Ab... |
ORPHA:2345 |
Multiple Epiphyseal Dysplasia Type 4 |
|
Micrognathia, Abnormal hand morphology, Metaphyseal widening, Flexion contracture, Short metatars... |
ORPHA:93307 |
Stuve-Wiedemann Syndrome 1 |
|
Short neck, Knee flexion contracture, Femoral bowing, Tibial bowing, Short tibia, Short phalanx o... |
OMIM:601559 |
Glycogen Storage Disease Ixd |
|
Hypoglycemia, Elevated circulating creatine kinase concentration |
OMIM:300559 |
Anauxetic Dysplasia 3 |
|
Beaking of vertebral bodies, Short metacarpal, Severe short stature, Thoracolumbar kyphoscoliosis... |
OMIM:618853 |
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly |
|
Congenital hip dislocation, Abnormal finger flexion crease, Aplasia/Hypoplasia of the 5th finger,... |
OMIM:228930 |
Polyendocrine-Polyneuropathy Syndrome |
|
Hypogonadotropic hypogonadism, Hypoglycemia, Anterior pituitary hypoplasia, Decreased circulating... |
ORPHA:453533 |
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency |
|
Abnormal circulating acylcarnitine concentration, Increased circulating free fatty acid level, Fa... |
ORPHA:71212 |
3-Methylglutaconic Aciduria Type 4 |
|
Failure to thrive, Hypoglycemia, Thrombocytopenia |
ORPHA:67048 |
Desbuquois Dysplasia 2 |
|
Short neck, Metaphyseal widening, Pectus carinatum, Narrow chest, Short phalanx of finger, Genu v... |
OMIM:615777 |
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency |
|
Fused labia majora, Decreased circulating cortisol level, Neonatal hypoglycemia, Renal salt wasti... |
ORPHA:90794 |
Classical-Like Ehlers-Danlos Syndrome Type 1 |
|
Joint hyperflexibility, Adrenal hypoplasia, Thin skin, Joint hypermobility |
ORPHA:230839 |
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome |
|
Pes planus, Urinary incontinence, Hypercalcemia, Micrognathia, Unilateral radial aplasia, Tapered... |
ORPHA:476126 |
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly |
|
Postaxial polydactyly, Lateral clavicle hook, Obesity, Bell-shaped thorax, Short long bone, Thora... |
OMIM:615633 |
Hypocalciuric Hypercalcemia, Familial, Type Ii |
|
Hypercalcemia, Parathormone-independent increased renal tubular calcium reabsorption, Primary hyp... |
OMIM:145981 |
Nephrotic Syndrome, Type 3 |
|
Hypoalbuminemia |
OMIM:610725 |
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia |
|
Hypercholesterolemia, Hypoalbuminemia, Elevated circulating creatine kinase concentration |
OMIM:208920 |
Proprotein Convertase 1/3 Deficiency |
|
Decreased circulating cortisol level, Hypogonadotropic hypogonadism, Reactive hypoglycemia, Obesi... |
OMIM:600955 |
Cerebroretinal Microangiopathy With Calcifications And Cysts 3 |
|
Intrauterine growth retardation, Recurrent fractures |
OMIM:620368 |
Combined Oxidative Phosphorylation Deficiency 47 |
|
Hepatomegaly, Toe syndactyly, Hypoglycemia, Cryptorchidism, Cone-shaped epiphyses of the distal p... |
OMIM:618958 |
Neu-Laxova Syndrome |
|
Osteopenia, Osteomalacia, Flexion contracture, Osteoporosis, Rickets, Arthrogryposis multiplex co... |
ORPHA:2671 |
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome |
|
Osteoporosis, Camptodactyly of finger, Hypogonadotropic hypogonadism, Hypoglycemia |
ORPHA:48431 |
Nephrotic Syndrome, Type 6 |
|
Hypoalbuminemia |
OMIM:614196 |
Alg12-Cdg |
|
Hyponatremia, Recurrent respiratory infections, Decreased serum insulin-like growth factor 1, Rec... |
ORPHA:79324 |
Autosomal Recessive Malignant Osteopetrosis |
|
Bowing of the long bones, Recurrent fractures, Craniosynostosis, Abnormal rib morphology, Bone pa... |
ORPHA:667 |
Microcephaly, Short Stature, And Impaired Glucose Metabolism 1 |
|
Joint laxity, Diabetes mellitus, Osteoporosis, Delayed thelarche, Delayed puberty, Hyperinsulinem... |
OMIM:616033 |
Obesity Due To Prohormone Convertase I Deficiency |
|
Decreased response to growth hormone stimulation test, Hyperinsulinemia, Obesity, Hypoglycemic se... |
ORPHA:71528 |
Obesity Due To Pro-Opiomelanocortin Deficiency |
|
Decreased response to growth hormone stimulation test, Hyperinsulinemia, Obesity, Hypoglycemic se... |
ORPHA:71526 |
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency |
|
Methylmalonic acidemia, Hepatomegaly, Hypoglycemia, Hyperammonemia, Leukopenia, Hyperglycinemia, ... |
OMIM:251000 |
Endosteal Hyperostosis, Autosomal Dominant |
|
Sclerotic vertebral body, Hyperostosis, Abnormal pelvic girdle bone morphology, Metacarpal diaphy... |
OMIM:144750 |
Mucopolysaccharidosis, Type Ivb |
|
Epiphyseal deformities of tubular bones, Metaphyseal widening, Flaring of rib cage, Joint laxity,... |
OMIM:253010 |
Celiac Disease, Susceptibility To, 1 |
|
Macrocytic anemia, Short stature, Postnatal growth retardation, Osteoporosis, Thyroiditis, Ricket... |
OMIM:212750 |
Carnitine Deficiency, Systemic Primary |
|
Hepatomegaly, Elevated circulating creatine kinase concentration, Microvesicular hepatic steatosi... |
OMIM:212140 |
Bone Fragility With Contractures, Arterial Rupture, And Deafness |
|
Osteopenia, Contracture of the proximal interphalangeal joint of the 2nd finger, Overlapping fing... |
OMIM:612394 |
Familial Glucocorticoid Deficiency |
|
Decreased circulating cortisol level, Ketotic hypoglycemia, Renal salt wasting, Hypoglycemic seiz... |
ORPHA:361 |
Variant Abeta2M Amyloidosis |
|
Multiple bony cystic lesions, Wrist pain, Pathologic fracture, Knee pain, Arthralgia of the hip |
ORPHA:314652 |
Spondyloepiphyseal Dysplasia-Brachydactyly And Distinctive Speech |
|
Short neck, Delayed epiphyseal ossification, Rhizo-meso-acromelic limb shortening, Flexion contra... |
OMIM:611717 |
X-Linked Sideroblastic Anemia |
|
Splenomegaly, Glucose intolerance, Anemia, Abnormality of iron homeostasis |
ORPHA:75563 |
Familial Partial Lipodystrophy, Köbberling Type |
|
Hepatomegaly, Diabetes mellitus, Insulin resistance, Hyperinsulinemia, Xanthomatosis, Hepatic ste... |
ORPHA:79084 |
Mitochondrial Complex I Deficiency, Nuclear Type 33 |
|
Small for gestational age, Hypoglycemia, Bronchiectasis, Hyperammonemia, Aspiration pneumonia, Ne... |
OMIM:618253 |
Van Buchem Disease |
|
Increased bone mineral density, Cranial hyperostosis, Thickened cortex of long bones |
OMIM:239100 |
Obesity Due To Congenital Leptin Deficiency |
|
Hypertriglyceridemia, Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant d... |
ORPHA:66628 |
Severe Hereditary Thrombophilia Due To Congenital Protein S Deficiency |
|
Aplasia/Hypoplasia of the skin, Thin skin, Skin ulcer |
ORPHA:743 |
Avian Influenza |
|
Pneumonia, Elevated circulating creatine kinase concentration, Elevated circulating C-reactive pr... |
ORPHA:454836 |
Isolated Thyroid-Stimulating Hormone Deficiency |
|
Thyroid hypoplasia, Decreased thyroid-stimulating hormone level, Reduced radioactive iodine uptak... |
ORPHA:90674 |
Ck Syndrome |
|
Abnormal cortical bone morphology, Joint hypermobility |
OMIM:300831 |
Juvenile Nephropathic Cystinosis |
|
Abnormal long bone morphology, Aminoaciduria, Renal Fanconi syndrome, Hypocalcemia, Low-molecular... |
ORPHA:411634 |
Genetic Steroid-Resistant Nephrotic Syndrome |
|
Respiratory tract infection, Peritonitis, Hypoalbuminemia |
ORPHA:656 |
Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Hepatomegaly, Small for gestational age, Elevated circulating creatine kinase concentration, Pneu... |
ORPHA:26793 |
Hemochromatosis, Type 1 |
|
Hepatomegaly, Diabetes mellitus, Hypogonadotropic hypogonadism, Increased circulating ferritin co... |
OMIM:235200 |
Congenital Enterovirus Infection |
|
Abnormal macrophage morphology, Thrombocytopenia, Leukocytosis, Hepatitis, Hyperammonemia, Choles... |
ORPHA:292 |
Diarrhea 10, Protein-Losing Enteropathy Type |
|
Hyponatremia, Hypertriglyceridemia, Recurrent upper respiratory tract infections, Elevated circul... |
OMIM:618183 |
Fibrochondrogenesis 2 |
|
Hypoplastic ischia, Hypoplastic ilia, Cupped ribs, Metaphyseal widening, Hypoplastic pubic bone, ... |
OMIM:614524 |
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis |
|
Osteomyelitis, Elevated circulating C-reactive protein concentration, Abnormal sacroiliac joint m... |
ORPHA:324964 |
Antley-Bixler Syndrome |
|
Arachnodactyly, Recurrent fractures, Craniosynostosis, Joint stiffness, Camptodactyly of finger, ... |
ORPHA:83 |
Glucagonoma |
|
Neoplasm of the pancreas, Hepatomegaly, Diabetes mellitus, Hypercalcemia, Elevated circulating gr... |
ORPHA:97280 |
Ppoma |
|
Neoplasm of the pancreas, Hepatomegaly, Hypercalcemia, Elevated circulating growth hormone concen... |
ORPHA:97278 |
Rin2 Syndrome |
|
Increased susceptibility to fractures, Abnormal sternum morphology, Scoliosis, Joint hypermobilit... |
ORPHA:217335 |
Ménétrier Disease |
|
Hypoproteinemia, Hypoalbuminemia, Hypochromic microcytic anemia, Weight loss |
ORPHA:2494 |
Al-Gazali Syndrome |
|
Osteopenia, Proximal radio-ulnar synostosis, Bowed humerus, Recurrent fractures, Bilateral talipe... |
OMIM:609465 |
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement |
|
Osteopenia, Lumbar hyperlordosis, Broad hallux, Short neck, Postnatal growth retardation, Slender... |
ORPHA:251028 |
Familial Hemophagocytic Lymphohistiocytosis |
|
Hepatomegaly, Hypertriglyceridemia, Increased circulating ferritin concentration, Thrombocytopeni... |
ORPHA:540 |
Congenital Insensitivity To Pain With Severe Intellectual Disability |
|
Osteomyelitis, Small for gestational age, Rocker bottom foot, Recurrent fractures, Tibial bowing,... |
ORPHA:453510 |
Mucolipidosis Iii Alpha/Beta |
|
Soft tissue swelling of interphalangeal joints, Short stature, Increased serum beta-hexosaminidas... |
OMIM:252600 |
Mucopolysaccharidosis-Plus Syndrome |
|
Recurrent respiratory infections, Hepatomegaly, Recurrent bronchopulmonary infections, Thrombocyt... |
OMIM:617303 |
Sillence Syndrome |
|
Back pain, Large iliac wing, Abnormal vertebral morphology, Large tarsal bones, Flat acetabular r... |
ORPHA:3168 |
Body Mass Index Quantitative Trait Locus 19 |
|
Hypertriglyceridemia, Insulin resistance, Hyperlipidemia, Hyperinsulinemia, Obesity, Increased se... |
OMIM:617885 |
Microcephaly-Cervical Spine Fusion Anomalies Syndrome |
|
Abnormal clavicle morphology, Short stature, Short neck, Pectus excavatum, Hyperlordosis, Kyphosi... |
ORPHA:2522 |
Immunodeficiency 82 With Systemic Inflammation |
|
Osteomyelitis, Decreased proportion of naive T cells, Pneumonia, Bronchitis, Elevated circulating... |
OMIM:619381 |
Spondyloepimetaphyseal Dysplasia Congenita, Strudwick Type |
|
Abnormally ossified vertebrae, Restricted large joint movement, Flared metaphysis, Hypoplastic pu... |
ORPHA:93346 |
Hsd10 Mitochondrial Disease |
|
Elevated circulating tiglylglycine concentration, Hypoglycemia |
OMIM:300438 |
Multiple Endocrine Neoplasia Type 2 |
|
Elevated circulating parathyroid hormone level, Pheochromocytoma, Elevated urinary vanillylmandel... |
ORPHA:653 |
Plin1-Related Familial Partial Lipodystrophy |
|
Hypertriglyceridemia, Hyperinsulinemia, Abnormal circulating hormone concentration, Insulin-resis... |
ORPHA:280356 |
Combined Oxidative Phosphorylation Deficiency 55 |
|
Stage 3 chronic kidney disease, Short stature, Elevated circulating creatine kinase concentration... |
OMIM:619743 |
Primary Biliary Cholangitis |
|
Portal hypertension, Conjugated hyperbilirubinemia, Abnormality of the thyroid gland, Jaundice, O... |
ORPHA:186 |
Combined Osteogenesis Imperfecta And Ehlers-Danlos Syndrome 1 |
|
Short stature, Recurrent fractures, Reduced bone mineral density, Scoliosis, Joint hypermobility |
OMIM:619115 |
Amoebiasis Due To Entamoeba Histolytica |
|
Lung abscess, Liver abscess, Leukocytosis, Weight loss, Hypoalbuminemia, Pleural empyema, Pleural... |
ORPHA:67 |
Obesity Due To Leptin Receptor Gene Deficiency |
|
Hypertriglyceridemia, Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant d... |
ORPHA:179494 |
Spondylometaphyseal Dysplasia, Sedaghatian Type |
|
Short neck, Delayed epiphyseal ossification, Long fibula, Narrow chest, Narrow greater sciatic no... |
OMIM:250220 |
Distal Renal Tubular Acidosis |
|
Osteomalacia, Rickets, Increased susceptibility to fractures, Reduced bone mineral density, Hypok... |
ORPHA:18 |
Cranio-Osteoarthropathy |
|
Arthritis, Osteoarthritis, Abnormal cortical bone morphology, Joint stiffness |
ORPHA:1525 |
Cole-Carpenter Syndrome 1 |
|
Osteopenia, Short stature, Recurrent fractures, Vertebral compression fracture, Reduced bone mine... |
OMIM:112240 |
Stiff Skin Syndrome |
|
Aplasia/Hypoplasia of the skin, Subcutaneous nodule, Limitation of joint mobility, Type II diabet... |
ORPHA:2833 |
Fibrochondrogenesis 1 |
|
Short neck, Narrow greater sciatic notch, Short palm, Clinodactyly of the 5th finger, Posterior v... |
OMIM:228520 |
Insulinomatosis And Diabetes Mellitus |
|
Impaired glucose tolerance, Insulinoma, Multiple pancreatic beta-cell adenomas, Type II diabetes ... |
OMIM:147630 |
Silver-Russell Syndrome Due To 7P11.2P13 Microduplication |
|
Prominent fingertip pads, Small for gestational age, Short stature, Hypoglycemia, Postnatal growt... |
ORPHA:231137 |
Severe Hereditary Thrombophilia Due To Congenital Protein C Deficiency |
|
Aplasia/Hypoplasia of the skin, Thin skin |
ORPHA:745 |
Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development |
|
Short stature, Craniosynostosis, Thin ribs, Slender long bone, Decreased calvarial ossification, ... |
OMIM:618265 |
Infantile Liver Failure Syndrome 2 |
|
Jaundice, Hypoglycemia, Hyperammonemia |
OMIM:616483 |
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency |
|
Hyponatremia, Endometrial carcinoma, Decreased circulating cortisol level, Adrenal hyperplasia, H... |
ORPHA:90790 |
Osteopetrosis, Autosomal Recessive 2 |
|
Osteomyelitis, Recurrent fractures, Mandibular osteomyelitis, Cranial hyperostosis, Diaphyseal sc... |
OMIM:259710 |
Osteopetrosis, Autosomal Dominant 3 |
|
Osteopenia, Recurrent fractures, Pectus carinatum |
OMIM:618107 |
Timothy Syndrome |
|
Hypoglycemia, Pneumonia, Bronchitis, Hypocalcemia, Hypothyroidism |
OMIM:601005 |
Ataxia-Telangiectasia |
|
Recurrent respiratory infections, Lymphopenia, Aplasia/Hypoplasia of the skin, Diabetes mellitus,... |
ORPHA:100 |
Eiken Syndrome |
|
Short stature, Broad femoral neck, Delayed epiphyseal ossification, Long thumb, Flat acetabular r... |
OMIM:600002 |
Fibrochondrogenesis |
|
Hypoplastic scapulae, Short stature, Camptodactyly of finger, Micromelia, Short neck, Wide anteri... |
ORPHA:2021 |
Insulinoma |
|
Nonketotic hypoglycemia, Reactive hypoglycemia, Abnormality of the pancreatic islet cells, Fastin... |
ORPHA:97279 |
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type |
|
Micromelia, Bowing of the legs, Short neck, Triangular shaped distal phalanges of the hand, Pectu... |
OMIM:271665 |
Periventricular Nodular Heterotopia |
|
Thin skin, Joint hypermobility |
ORPHA:98892 |
Autosomal Recessive Primary Microcephaly |
|
Abnormal cortical bone morphology |
ORPHA:2512 |
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form |
|
Aplasia cutis congenita on trunk or limbs, Craniosynostosis, Atrophic scars, Hypoalbuminemia, Apl... |
ORPHA:79396 |
Osteootohepatoenteric Syndrome |
|
Recurrent fractures, Avascular necrosis of the capital femoral epiphysis, Reduced bone mineral de... |
OMIM:619377 |
Dermoodontodysplasia |
|
Thin skin, Melanocytic nevus |
ORPHA:1660 |
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii |
|
Distal symphalangism, Coxa vara, Tibial bowing, Narrow chest, Hypoplastic iliac wing, Clinodactyl... |
OMIM:210720 |
Mosaic Trisomy 14 |
|
Camptodactyly of finger, Short neck, Abnormal rib morphology, Narrow chest, Failure to thrive |
ORPHA:1703 |
Acromesomelic Dysplasia 4 |
|
Thoracic scoliosis, Accelerated skeletal maturation, Short metatarsal, Short phalanx of finger, G... |
OMIM:619636 |
Lowe Oculocerebrorenal Syndrome |
|
Osteomalacia, Elevated circulating creatine kinase concentration, Elevated maternal serum alpha-f... |
OMIM:309000 |
Brachial Amelia, Cleft Lip, And Holoprosencephaly |
|
Short femur, Foot oligodactyly, Amelia |
OMIM:601357 |
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome |
|
Hepatomegaly, Diabetes mellitus, Hypertriglyceridemia, Insulin resistance, Osteoporosis, Dermal a... |
OMIM:615381 |
Intermediate Nemaline Myopathy |
|
Multiple prenatal fractures, Arthrogryposis multiplex congenita, Abnormal thorax morphology, Flex... |
ORPHA:171433 |
Sarcoidosis |
|
Abnormal lung morphology, Subcutaneous nodule, Increased T cell count, Leukopenia, Emphysema, Hyp... |
ORPHA:797 |
White Forelock With Malformations |
|
Finger syndactyly, Delayed skeletal maturation, Abnormal rib morphology, Joint hyperflexibility, ... |
ORPHA:2475 |
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic |
|
Hepatomegaly, Hypoglycemia, Low plasma citrulline, Increased hepatic echogenicity, Fasting hypogl... |
OMIM:261680 |
Polyendocrine-Polyneuropathy Syndrome |
|
Short stature, Hypogonadotropic hypogonadism, Elevated hemoglobin A1c, Anterior pituitary hypopla... |
OMIM:616113 |
Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type |
|
Osteopenia, Short fourth metatarsal, Short metacarpal, Short stature, Overlapping toe, Craniosyno... |
OMIM:616723 |
3-Methylcrotonyl-Coa Carboxylase 1 Deficiency |
|
Acute hepatic steatosis, Acute hyperammonemia, Failure to thrive, Hypoglycemia |
OMIM:210200 |
Three M Syndrome 2 |
|
Scapular winging, Severe short stature, Short stature, Small for gestational age, Lumbar hyperlor... |
OMIM:612921 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Snyder-Robinson Type |
|
Hyperextensibility of the finger joints, Short stature, Recurrent fractures, Kyphoscoliosis, Shor... |
OMIM:309583 |
Microcephalic Primordial Dwarfism, Toriello Type |
|
Severe short stature, Delayed skeletal maturation, Abnormal rib morphology, Abnormal epiphysis mo... |
ORPHA:2643 |
Malignant Hyperthermia Of Anesthesia |
|
Elevated creatine kinase after exercise, Hyperphosphatemia, Hyperkalemia |
ORPHA:423 |
Citrullinemia, Type Ii, Neonatal-Onset |
|
Hypertyrosinemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Conjugated hyper... |
OMIM:605814 |
Craniometadiaphyseal Dysplasia |
|
Osteopenia, Broad long bones, Short stature, Coxa valga, Wide anterior fontanel, Flared metaphysi... |
OMIM:269300 |
Brachytelephalangic Chondrodysplasia Punctata |
|
Cervical kyphosis, Hypoplastic cervical vertebrae, Vertebral hypoplasia, Calcaneal epiphyseal sti... |
ORPHA:79345 |
Premature Aging Syndrome, Penttinen Type |
|
Failure to thrive, Recurrent fractures, Skin nodule, Elevated circulating thyroid-stimulating hor... |
OMIM:601812 |
Hemochromatosis, Type 3 |
|
Hypogonadotropic hypogonadism, Increased circulating ferritin concentration, Elevated transferrin... |
OMIM:604250 |
Cushing Disease |
|
Increased urinary cortisol level, Diabetes mellitus, Impaired glucose tolerance, Adrenal hyperpla... |
ORPHA:96253 |
Tenorio Syndrome |
|
Osteopenia, Joint laxity, Hypoglycemia, Recurrent pneumonia, Hypoinsulinemia |
OMIM:616260 |
Pituitary Hormone Deficiency, Combined, 2 |
|
Decreased thyroid-stimulating hormone level, Reduced circulating prolactin concentration, Abnorma... |
OMIM:262600 |
Autosomal Recessive Spondylocostal Dysostosis |
|
Rib segmentation abnormalities, Finger syndactyly, Abnormal intervertebral disk morphology, Short... |
ORPHA:2311 |
Phaver Syndrome |
|
Broad hallux phalanx, Camptodactyly of finger, Joint stiffness, Short thumb, Abnormal rib morphol... |
ORPHA:2876 |
Achondrogenesis, Type Ii |
|
Barrel-shaped chest, Absent vertebral body mineralization, Broad long bones, Short tubular bones ... |
OMIM:200610 |
Stüve-Wiedemann Syndrome |
|
Osteopenia, Micromelia, Metaphyseal widening, Flexion contracture, Knee flexion contracture, Shor... |
ORPHA:3206 |
Flynn-Aird Syndrome |
|
Increased bone mineral density, Joint stiffness, Osteoporosis, Increased bone density with cystic... |
OMIM:136300 |
Colchicine Poisoning |
|
Hyponatremia, Abnormal blood ion concentration, Hypophosphatemia, Hypokalemia, Hypocalcemia, Hypo... |
ORPHA:31824 |
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome |
|
Decreased circulating cortisol level, Severe B lymphocytopenia, Decreased response to growth horm... |
ORPHA:293978 |
Gaisböck Syndrome |
|
Hypertriglyceridemia, Diabetes mellitus, Overweight, Splenomegaly, Increased mean corpuscular hem... |
ORPHA:90041 |
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome |
|
Bowing of the legs, Coxa vara, Narrow greater sciatic notch, Hypotriglyceridemia, Short phalanx o... |
ORPHA:85167 |
Carnitine Palmitoyltransferase I Deficiency |
|
Hepatomegaly, Elevated circulating creatine kinase concentration, Hyperammonemia, Transient hyper... |
OMIM:255120 |
Liver Failure, Infantile, Transient |
|
Hepatomegaly, Microvesicular hepatic steatosis, Jaundice, Hypoalbuminemia, Macrovesicular hepatic... |
OMIM:613070 |
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome |
|
Broad hallux phalanx, Toe syndactyly, Short stature, Metatarsus valgus, Aplasia/Hypoplasia of toe... |
ORPHA:3082 |
Congenital Disorder Of Glycosylation, Type Ia |
|
Osteopenia, Hepatomegaly, Hypergonadotropic hypogonadism, Hypothyroidism, Flexion contracture, Hy... |
OMIM:212065 |
Spinocerebellar Ataxia With Axonal Neuropathy Type 2 |
|
Hypercholesterolemia, Hypoalbuminemia, Elevated circulating creatine kinase concentration, Elevat... |
ORPHA:64753 |
Aplasia Cutis Congenita |
|
Aplasia cutis congenita over the scalp vertex, Skin ulcer, Abnormality of bone mineral density, C... |
ORPHA:1114 |
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome |
|
Joint laxity, Diabetes mellitus, Small for gestational age, Down-sloping shoulders, Proportionate... |
ORPHA:391408 |
Localized Dystrophic Epidermolysis Bullosa, Acral Form |
|
Milia, Erythematous plaque, Thin skin, Dermal atrophy |
ORPHA:158673 |
Silver-Russell Syndrome |
|
Micrognathia, Abnormal appendicular skeleton morphology, Recurrent hypoglycemia, Clinodactyly of ... |
ORPHA:813 |
Idiopathic Hypercalciuria |
|
Osteopenia, Abnormal circulating calcium concentration, Osteoporosis |
ORPHA:2197 |
Rothmund-Thomson Syndrome Type 1 |
|
Osteopenia, Abnormal trabecular bone morphology, Short metacarpal, Calcinosis, Small for gestatio... |
ORPHA:221008 |
Carnitine-Acylcarnitine Translocase Deficiency |
|
Hepatomegaly, Hypoglycemia, Elevated circulating creatine kinase concentration, Hyperammonemia, H... |
OMIM:212138 |
Symptomatic Form Of Fragile X Syndrome In Female Carriers |
|
Joint laxity, Hyperthyroidism, Diabetes mellitus, Thin skin, Hypothyroidism |
ORPHA:449291 |
Flynn-Aird Syndrome |
|
Cachexia, Joint stiffness, Abnormality of the thyroid gland, Bone cyst, Primary adrenal insuffici... |
ORPHA:2047 |
Multiple Osteochondromas |
|
Deformed radius, Abnormal hand morphology, Abnormal tibia morphology, Metaphyseal widening, Abnor... |
ORPHA:321 |
Hypomagnesemia 1, Intestinal |
|
Hypocalcemia, Hypomagnesemia |
OMIM:602014 |
Brittle Cornea Syndrome |
|
Hallux valgus, Arachnodactyly, Osteoporosis, Increased susceptibility to fractures, Joint hyperfl... |
ORPHA:90354 |
Otospondylomegaepiphyseal Dysplasia |
|
Short neck, Osteoarthritis, Abnormal iliac wing morphology, Tibial bowing, Abnormal long bone mor... |
ORPHA:1427 |
Craniosynostosis, Herrmann-Opitz Type |
|
Finger syndactyly, Short stature, Craniosynostosis, Micromelia, Split hand, Abnormal rib morpholo... |
ORPHA:2145 |
Nestor-Guillermo Progeria Syndrome |
|
Short stature, Limited elbow movement, Joint stiffness, Flexion contracture, Osteoporosis, Osteol... |
OMIM:614008 |
19Q13.11 Microdeletion Syndrome |
|
Recurrent respiratory infections, Cachexia, Thin skin, Aplasia cutis congenita, Failure to thrive |
ORPHA:217346 |
Exostoses With Anetodermia And Brachydactyly, Type E |
|
Dermal atrophy |
OMIM:133690 |
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2 |
|
Accessory spleen, Multiple pulmonary cysts, Hepatomegaly, Hypertriglyceridemia, Hypoglycemia, Joi... |
OMIM:619418 |
Spondylometaphyseal Dysplasia, Algerian Type |
|
Metaphyseal dysplasia, Severe short stature, Bowed humerus, Anterior rib cupping, Lumbar hyperlor... |
OMIM:184253 |
Trichohepatoenteric Syndrome 1 |
|
Hepatomegaly, Failure to thrive, Small for gestational age, Increased mean platelet volume, Abnor... |
OMIM:222470 |
Donohue Syndrome |
|
Precocious puberty, Postnatal growth retardation, Long penis, Hyperinsulinemia, Cholestasis, Ovar... |
OMIM:246200 |
Mucopolysaccharidosis Type 6 |
|
Epiphyseal dysplasia, Ovoid vertebral bodies, Joint stiffness, Short neck, Kyphosis, Disproportio... |
ORPHA:583 |
Congenital Heart Defects And Ectodermal Dysplasia |
|
Thin skin |
OMIM:617364 |
Shwachman-Diamond Syndrome 1 |
|
Short stature, Anterior rib cupping, Small for gestational age, Ovoid vertebral bodies, Metaphyse... |
OMIM:260400 |
Thanatophoric Dysplasia, Type I |
|
Bowing of the long bones, Small abnormally formed scapulae, Short neck, Hypoplastic ilia, Wide-cu... |
OMIM:187600 |
Abetalipoproteinemia |
|
Osteopenia, Decreased HDL cholesterol concentration, Failure to thrive, Reticulocytosis, Hepatome... |
ORPHA:14 |
Cushing Syndrome Due To Ectopic Acth Secretion |
|
Adrenal hyperplasia, Pancreatoblastoma, Pituitary corticotropic cell adenoma, Neoplasm of the thy... |
ORPHA:99889 |
Combined Oxidative Phosphorylation Deficiency 40 |
|
Decreased circulating cortisol level, Hypoglycemia, Elevated circulating creatine kinase concentr... |
OMIM:618835 |
Raine Syndrome |
|
Increased bone mineral density, Bowing of the long bones, Short stature, Micromelia, Short neck, ... |
OMIM:259775 |
Pituitary Stalk Interruption Syndrome |
|
Hypoplasia of penis, Ectopic posterior pituitary, Short stature, Hypoglycemia, Adrenal hypoplasia... |
ORPHA:95496 |
Combined Oxidative Phosphorylation Deficiency 42 |
|
Decreased circulating cortisol level, Hypoglycemia, Elevated circulating creatine kinase concentr... |
OMIM:618839 |
Microphthalmia, Syndromic 9 |
|
Renal malrotation, Severe short stature, Short stature, Micrognathia, Cryptorchidism, Renal hypop... |
OMIM:601186 |
Cantú Syndrome |
|
Finger syndactyly, Broad hallux phalanx, Ovoid vertebral bodies, Short hallux, Coxa valga, Accele... |
ORPHA:1517 |
Chronic Bilirubin Encephalopathy |
|
Hemolytic anemia, Hypoalbuminemia, Prolonged neonatal jaundice, Hypernatremia, Neonatal hyperbili... |
ORPHA:529808 |
Acute Bilirubin Encephalopathy |
|
Hemolytic anemia, Hypoalbuminemia, Prolonged neonatal jaundice, Hypernatremia, Neonatal hyperbili... |
ORPHA:529799 |
Aica-Ribosuria Due To Atic Deficiency |
|
Hyponatremia, Skin dimple, Hypoglycemia |
OMIM:608688 |
Low Phospholipid-Associated Cholelithiasis |
|
Liver abscess, Diabetes mellitus, Cholangitis, Overweight, Intrahepatic cholestasis, Obesity, Bil... |
ORPHA:69663 |
Mitochondrial Trifunctional Protein Deficiency 1 |
|
Small for gestational age, Elevated circulating creatine kinase concentration, Elevated circulati... |
OMIM:609015 |
Lysosomal Acid Lipase Deficiency |
|
Adrenal calcification, Bone-marrow foam cells, Renal salt wasting, Microvesicular hepatic steatos... |
ORPHA:275761 |
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria) |
|
Failure to thrive, Hypoglycemia, Hyperglycinemia, Hypertaurinemia |
OMIM:245400 |
Thanatophoric Dysplasia, Type Ii |
|
Small abnormally formed scapulae, Micromelia, Hypoplastic ilia, Wide-cupped costochondral junctio... |
OMIM:187601 |
Autosomal Recessive Cutis Laxa Type 2A |
|
Congenital hip dislocation, Postnatal growth retardation, Wide anterior fontanel, Increased susce... |
ORPHA:357058 |
Sheehan Syndrome |
|
Decreased circulating cortisol level, Reduced circulating prolactin concentration, Gonadotropin d... |
ORPHA:91355 |
Autosomal Dominant Hypohidrotic Ectodermal Dysplasia |
|
Thin skin |
ORPHA:1810 |
Orofaciodigital Syndrome Vi |
|
11 pairs of ribs, Brachydactyly, Toe syndactyly, Short femur, Mesoaxial hand polydactyly, Postaxi... |
OMIM:277170 |
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome |
|
Craniofacial hyperostosis, Short stature, Hyperlordosis, Delayed skeletal maturation, Limitation ... |
ORPHA:3068 |
Congenital Disorder Of Glycosylation, Type Iig |
|
Osteopenia, Thoracic scoliosis, Short neck, Vertebral segmentation defect, Rhizomelia, Short stat... |
OMIM:611209 |
Gaucher Disease Type 1 |
|
Osteopenia, Increased bone mineral density, Kyphosis, Osteoarthritis, Delayed skeletal maturation... |
ORPHA:77259 |
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency |
|
Hepatomegaly, Hypoglycemia, Hyperammonemia, Hyperuricemia, Anemia |
OMIM:246450 |
Infantile Nephropathic Cystinosis |
|
Abnormality of thyroid physiology, Rickets, Abnormal blood ion concentration, Hypophosphatemia, H... |
ORPHA:411629 |
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome |
|
Hepatomegaly, Micrognathia, Postnatal growth retardation, Splenomegaly, Postaxial hand polydactyl... |
ORPHA:1655 |
Rothmund-Thomson Syndrome |
|
Calcinosis, Osteopenia, Abnormal trabecular bone morphology, Hypoplasia of the ulna, Short statur... |
ORPHA:2909 |
Dysbetalipoproteinemia |
|
Decreased HDL cholesterol concentration, Hepatic steatosis, Hypertriglyceridemia, Diabetes mellit... |
ORPHA:412 |
Rothmund-Thomson Syndrome Type 2 |
|
Osteopenia, Abnormal trabecular bone morphology, Short metacarpal, Calcinosis, Small for gestatio... |
ORPHA:221016 |
Holzgreve Syndrome |
|
Abnormally ossified vertebrae, Abnormal morphology of ulna, Joint stiffness, Abnormal rib morphol... |
ORPHA:2167 |
Heme Oxygenase 1 Deficiency |
|
Hemolytic anemia, Hepatomegaly, Proteinuria, Elevated circulating C-reactive protein concentratio... |
OMIM:614034 |
Hennekam Lymphangiectasia-Lymphedema Syndrome 1 |
|
Pericardial lymphangiectasia, Thyroid lymphangiectasia, Pulmonary lymphangiectasia, Intestinal ly... |
OMIM:235510 |
Otopalatodigital Syndrome, Type I |
|
Abnormality of the fifth metatarsal bone, Femoral bowing, Broad distal phalanx of the thumb, Shor... |
OMIM:311300 |
Florid Cemento-Osseous Dysplasia |
|
Mandibular osteomyelitis, Abnormal trabecular bone morphology, Multiple bony cystic lesions, Abno... |
ORPHA:83451 |
Oculocerebrorenal Syndrome Of Lowe |
|
Hyponatremia, Hypoammonemia, Osteomalacia, Recurrent fractures, Joint stiffness, Joint hyperflexi... |
ORPHA:534 |
Porokeratosis Of Mibelli |
|
Aplasia/Hypoplasia of the skin |
ORPHA:735 |
Ring Chromosome 10 Syndrome |
|
Sandal gap, Cachexia, Tapered finger, Micrognathia, Renal hypoplasia/aplasia, Hypocalcemia, Intra... |
ORPHA:1438 |
Epiphyseal Dysplasia, Baumann Type |
|
Joint laxity, Epiphyseal dysplasia, Carpal bone aplasia, Pes planus, Hypoplasia of the femoral he... |
OMIM:610797 |
Diabetes Mellitus, Transient Neonatal, 3 |
|
Elevated hemoglobin A1c, Maternal diabetes, Reduced C-peptide level, Transient neonatal diabetes ... |
OMIM:610582 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 6 |
|
Hyperglycemia, Failure to thrive, Hypoglycemia, Hyperammonemia |
OMIM:615453 |
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria |
|
Methylmalonic acidemia, Short humerus, Hepatomegaly, Short femur, Hypospadias, Hypoglycemia, Flex... |
ORPHA:17 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3 |
|
Elevated circulating creatinine concentration, Anemia, Microangiopathic hemolytic anemia, Increas... |
OMIM:612923 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2 |
|
Elevated circulating creatinine concentration, Anemia, Microangiopathic hemolytic anemia, Increas... |
OMIM:612922 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6 |
|
Elevated circulating creatinine concentration, Anemia, Microangiopathic hemolytic anemia, Increas... |
OMIM:612926 |
Renpenning Syndrome |
|
Severe short stature, Cachexia, Joint stiffness, Pectus excavatum, Abnormal thumb morphology, Abn... |
ORPHA:3242 |
Microcephalic Osteodysplastic Primordial Dwarfism, Type I |
|
Micromelia, Micrognathia, Delayed epiphyseal ossification, Flexion contracture, Preaxial polydact... |
OMIM:210710 |
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia |
|
Hepatomegaly, Osteoporosis, Rickets, Type I diabetes mellitus, Failure to thrive |
OMIM:560000 |
Infantile-Onset X-Linked Spinal Muscular Atrophy |
|
Hip contracture, Interphalangeal joint contracture of finger, Ankle flexion contracture, Kyphosco... |
ORPHA:1145 |
Neurodegeneration And Seizures Due To Copper Transport Defect |
|
Short femur, Abnormal circulating ceruloplasmin concentration, Talipes equinovarus, Abnormal circ... |
OMIM:620306 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 9 |
|
Hypoglycemia |
OMIM:616111 |
Al Amyloidosis |
|
Hepatomegaly, Increased circulating NT-proBNP concentration, Howell-Jolly bodies, Abnormal pulmon... |
ORPHA:85443 |
Generalized Glucocorticoid Resistance Syndrome |
|
Increased urinary cortisol level, Adrenal hyperplasia, Hypoglycemia, Precocious puberty, Increase... |
ORPHA:786 |
Mohr-Tranebjaerg Syndrome |
|
Increased susceptibility to fractures |
OMIM:304700 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4 |
|
Elevated circulating creatinine concentration, Anemia, Microangiopathic hemolytic anemia, Increas... |
OMIM:612924 |
Dahlberg-Borer-Newcomer Syndrome |
|
Hypoparathyroidism, Renal insufficiency, Short stature, Hypocalcemia, Nephropathy, Hypothyroidism... |
ORPHA:1563 |
Insulin-Like Growth Factor I Deficiency |
|
Osteopenia, Short stature, Postnatal growth retardation, Delayed skeletal maturation, Decreased b... |
OMIM:608747 |
Congenital Bile Acid Synthesis Defect Type 2 |
|
Giant cell hepatitis, Hepatomegaly, Extramedullary hematopoiesis, Conjugated hyperbilirubinemia, ... |
ORPHA:79303 |
Xylt1-Cdg |
|
Joint laxity, Short stature, Coxa valga, Accelerated skeletal maturation, Flared metaphysis, Grow... |
ORPHA:370930 |
Thin Ribs-Tubular Bones-Dysmorphism Syndrome |
|
Abnormal pelvic girdle bone morphology, Intrauterine growth retardation, Slender long bone, Abnor... |
ORPHA:1506 |
Tyrosinemia Type 1 |
|
Splenomegaly, Hepatomegaly, Hepatocellular carcinoma, Rickets of the lower limbs |
ORPHA:882 |
Refractory Anemia With Excess Blasts |
|
Abnormal circulating protein concentration, Acute myeloid leukemia, Anemia of inadequate producti... |
ORPHA:86839 |
Hajdu-Cheney Syndrome |
|
Osteopenia, Joint laxity, Short stature, Kyphoscoliosis, Short neck, Tall lumbar vertebral bodies... |
OMIM:102500 |
Familial Isolated Hypoparathyroidism |
|
Hypoparathyroidism, Short stature, Abnormal circulating calcium-phosphate regulating hormone conc... |
ORPHA:2238 |
Sitosterolemia 1 |
|
Reticulocytosis, Hyperapobetalipoproteinemia, Elevated circulating sitosterol concentration, Thro... |
OMIM:210250 |
Neuhauser Syndrome |
|
Osteopenia, Pes planus, Arachnodactyly, Genu recurvatum, Short stature, Micrognathia, Genu valgum... |
OMIM:249310 |
Rheumatoid Factor-Positive Polyarticular Juvenile Idiopathic Arthritis |
|
Osteopenia, Symmetric polyarthritis, Elevated circulating C-reactive protein concentration, Limit... |
ORPHA:85435 |
Glucocorticoid Deficiency 1 |
|
Decreased circulating cortisol level, Increased circulating ACTH level, Abnormal circulating reni... |
OMIM:202200 |
Glucocorticoid Resistance, Generalized |
|
Hypoglycemia, Irregular menstruation, Increased circulating ACTH level, Increased circulating cor... |
OMIM:615962 |
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Ureteral duplication, Elevated circulating creatine kinase concentration, Knee flexion contractur... |
OMIM:608836 |
Pierre Robin Sequence With Pectus Excavatum And Rib And Scapular Anomalies |
|
Pectus excavatum, Hypoplastic distal segments of scapulae, Abnormal rib morphology, Joint hypermo... |
OMIM:602196 |
Xfe Progeroid Syndrome |
|
Failure to thrive, Hypoalbuminemia, Dermal atrophy, Cachexia |
OMIM:610965 |
Poland Syndrome |
|
Aplasia/Hypoplasia of the thumb, Short neck, Hemivertebrae, Pectus carinatum, Reduced bone minera... |
ORPHA:2911 |
Glycerol Kinase Deficiency |
|
Adrenocortical hypoplasia, Increased urinary glycerol, Hypertriglyceridemia, Small for gestationa... |
OMIM:307030 |
Congenital Disorder Of Glycosylation With Defective Fucosylation 1 |
|
Osteopenia, Short stature, Hypoglycemia, Hip dislocation, Nephrocalcinosis, Neutropenia, Limb und... |
OMIM:618005 |
Nephrotic Syndrome, Type 8 |
|
Hypoalbuminemia |
OMIM:615244 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5 |
|
Elevated circulating creatinine concentration, Anemia, Microangiopathic hemolytic anemia, Increas... |
OMIM:612925 |
Maple Syrup Urine Disease |
|
Pancreatitis, Elevated circulating branched chain amino acid concentration, Hypoglycemia, Elevate... |
OMIM:248600 |
Schimke Immuno-Osseous Dysplasia |
|
Neutropenia, Nephropathy, Nephrotic range proteinuria, Short stature, Minimal change glomerulonep... |
ORPHA:1830 |
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome |
|
Short stature, Recurrent fractures, Delayed skeletal maturation, Osteoporosis, Obesity, Reduced b... |
ORPHA:2235 |
Carnitine Palmitoyl Transferase 1A Deficiency |
|
Hepatomegaly, Hypoglycemia, Transient hyperlipidemia |
ORPHA:156 |
Cutis Laxa, Autosomal Recessive, Type Iiib |
|
Osteopenia, Flexion contracture, Osteoporosis, Elbow flexion contracture, Thin skin |
OMIM:614438 |
Hyperproinsulinemia |
|
Hyperglycemia, Hyperinsulinemia |
OMIM:616214 |
Osteopetrosis, Autosomal Recessive 5 |
|
Hepatomegaly, Pancytopenia, Extramedullary hematopoiesis, Short stature, Increased bone mineral d... |
OMIM:259720 |
Spondylocostal Dysostosis 2, Autosomal Recessive |
|
Short neck, Vertebral clefting, Rib fusion, Hemivertebrae, Disproportionate short-trunk short sta... |
OMIM:608681 |
Imperforate Oropharynx-Costovertebral Anomalies Syndrome |
|
Arachnodactyly, Missing ribs, Abnormal rib morphology, Hemivertebrae, Abnormal form of the verteb... |
ORPHA:2759 |
Tyrosinemia, Type I |
|
Hypertyrosinemia, Hepatomegaly, Renal insufficiency, Hypoglycemia, Elevated circulating alpha-fet... |
OMIM:276700 |
Megalocornea-Intellectual Disability Syndrome |
|
Osteopenia, Short stature, Tapered finger, Micrognathia, Joint hyperflexibility, Metatarsus valgu... |
ORPHA:2479 |
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal |
|
Hypertriglyceridemia, Hypospadias, External genital hypoplasia, Ovotestis, Palmoplantar keratoder... |
OMIM:610644 |
Mitochondrial Trifunctional Protein Deficiency 2 |
|
Increased circulating NT-proBNP concentration, Hypoglycemia, Elevated circulating creatine kinase... |
OMIM:620300 |
Pyknoachondrogenesis |
|
Craniofacial hyperostosis, Abnormal intramembranous ossification, Hypoplastic ischia, Short iliac... |
ORPHA:3003 |
Hereditary Fructose Intolerance |
|
Hepatomegaly, Reactive hypoglycemia, Jaundice, Hypermagnesemia, Hyperuricemia, Hypophosphatemia |
ORPHA:469 |
Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy |
|
Hyponatremia, Hypokalemia, Hypocalcemia, Hypomagnesemia |
OMIM:620152 |
Juvenile Polyposis Syndrome |
|
Hypokalemia, Failure to thrive, Hypoalbuminemia, Anemia |
OMIM:174900 |
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia |
|
Hepatomegaly, Recurrent urinary tract infections, Short stature, Joint stiffness, Postnatal growt... |
OMIM:620210 |
Occipital Horn Syndrome |
|
Osteopenia, Coxa vara, Pectus carinatum, Humerus varus, Narrow chest, Short palm, Large iliac win... |
ORPHA:198 |
Microcephaly, Short Stature, And Impaired Glucose Metabolism 2 |
|
Small for gestational age, Down-sloping shoulders, Short stature, Micrognathia, Cryptorchidism, R... |
OMIM:616817 |
Lipodystrophy, Familial Partial, Type 7 |
|
Hypertriglyceridemia, Spontaneous pneumothorax, Impaired glucose tolerance, Pulmonary arterioveno... |
OMIM:606721 |
Paget Disease Of Bone 6 |
|
Osteoarthritis, Bone pain, Recurrent fractures |
OMIM:616833 |
Sapho Syndrome |
|
Osteomyelitis, Recurrent fractures, Abnormal sacroiliac joint morphology, Abnormal thorax morphol... |
ORPHA:793 |
Beta-Thalassemia Intermedia |
|
Osteopenia, Osteoporosis, Reduced bone mineral density, Increased susceptibility to fractures, Ab... |
ORPHA:231222 |
Severe Congenital Nemaline Myopathy |
|
Multiple prenatal fractures, Abnormal thorax morphology, Flexion contracture, Thin ribs, Arthrogr... |
ORPHA:171430 |
Spondylocostal Dysostosis 4, Autosomal Recessive |
|
Vertebral fusion, Short stature, Block vertebrae, Abnormal odontoid process morphology, Missing r... |
OMIM:613686 |
Schwartz-Jampel Syndrome |
|
Elevated circulating creatine kinase concentration, Micromelia, Short neck, Coxa vara, Pectus car... |
ORPHA:800 |
Igg4-Related Retroperitoneal Fibrosis |
|
Normocytic anemia, Psoriasiform dermatitis, Elevated circulating C-reactive protein concentration... |
ORPHA:49041 |
Hyperlipidemia, Familial Combined, 3 |
|
Increased VLDL cholesterol concentration, Hyperlipidemia, Elevated circulating apolipoprotein B c... |
OMIM:144250 |
Bardet-Biedl Syndrome 20 |
|
Proteinuria, Postaxial polydactyly, Bilateral cryptorchidism, Postaxial hand polydactyly, Obesity... |
OMIM:619471 |
Immunodeficiency 47 |
|
Normocytic anemia, Accessory spleen, Hepatomegaly, Decreased circulating copper concentration, Jo... |
OMIM:300972 |
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of |
|
Nonketotic hypoglycemia, Hepatomegaly, Elevated circulating creatine kinase concentration, Hypera... |
OMIM:201475 |
Williams Syndrome |
|
Osteopenia, Hypoplasia of penis, Elevated circulating creatine kinase concentration, Micrognathia... |
ORPHA:904 |
Grange Syndrome |
|
Syndactyly, Recurrent fractures, Increased susceptibility to fractures, Finger clinodactyly, Decr... |
OMIM:602531 |
Estrogen Resistance |
|
Osteopenia, Increased circulating osteocalcin level, Impaired glucose tolerance, Hyperinsulinemia... |
OMIM:615363 |
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome |
|
Failure to thrive, Congenital hip dislocation, Limb joint contracture, Small for gestational age,... |
ORPHA:404454 |
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities |
|
Hyponatremia, Epiphyseal dysplasia, Calcinosis, Congenital hip dislocation, Osteopenia, Micrognat... |
OMIM:617913 |
Cartilage-Hair Hypoplasia |
|
Joint laxity, Metaphyseal dysplasia, Lumbar hyperlordosis, Narrow vertebral interpedicular distan... |
OMIM:250250 |
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis |
|
Bifid scrotum, Fused labia majora, Decreased circulating cortisol level, Small scrotum, Femoral b... |
OMIM:201750 |
46,Xy Sex Reversal 4 |
|
Distal symphalangism, Elevated circulating creatinine concentration, Hypergonadotropic hypogonadi... |
OMIM:154230 |
Cenani-Lenz Syndrome |
|
Hypoplasia of the ulna, Finger syndactyly, Toe syndactyly, Micromelia, Short thumb, Hypoplasia of... |
ORPHA:3258 |
Sprengel Deformity |
|
Rib segmentation abnormalities, Cervical segmentation defect, Hemivertebrae, Scoliosis, Sprengel ... |
OMIM:184400 |
Symptomatic Form Of Hfe-Related Hemochromatosis |
|
Stiff interphalangeal joints, Hyperglycemia, Hypothyroidism, Hepatomegaly, Hypogonadotropic hypog... |
ORPHA:465508 |
Meier-Gorlin Syndrome 1 |
|
Lateral clavicle hook, Flat glenoid fossa, Flexion contracture, Hemivertebrae, Pectus carinatum, ... |
OMIM:224690 |
Late-Onset Familial Hypoaldosteronism |
|
Hyponatremia, Abnormal external genitalia, Postnatal growth retardation, Hyperkalemia, Abnormal c... |
ORPHA:556037 |
Pheochromocytoma |
|
Cafe-au-lait spot, Pheochromocytoma, Hypercalcemia |
OMIM:171300 |
Thrombotic Thrombocytopenic Purpura, Hereditary |
|
Reticulocytosis, Jaundice, Schistocytosis, Elevated circulating creatinine concentration, Prolong... |
OMIM:274150 |
Congenital Heart Defects And Skeletal Malformations Syndrome |
|
Repeated pneumothoraces, Thin skin, Camptodactyly, Failure to thrive, Joint hypermobility |
OMIM:617602 |
Occipital Horn Syndrome |
|
Joint laxity, Short humerus, Decreased circulating ceruloplasmin concentration, Decreased circula... |
OMIM:304150 |
Acyl-Coa Dehydrogenase 9 Deficiency |
|
Nonketotic hypoglycemia, Elevated circulating acylcarnitine concentration, Hyperammonemia, Decrea... |
ORPHA:99901 |
Lipodystrophy, Congenital Generalized, Type 4 |
|
Osteopenia, Hepatomegaly, Hypertriglyceridemia, Elevated circulating creatine kinase concentratio... |
OMIM:613327 |
Osteopetrosis, Autosomal Dominant 1 |
|
Thickened cortex of long bones, Generalized osteosclerosis, Calvarial osteosclerosis, Osteopetrosis |
OMIM:607634 |
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function |
|
Ectopic posterior pituitary, Decreased response to growth hormone stimulation test, Reduced circu... |
ORPHA:226307 |
Abdominal Obesity-Metabolic Syndrome 3 |
|
Hypertriglyceridemia, Increased LDL cholesterol concentration, Truncal obesity, Abdominal obesity... |
OMIM:615812 |
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis |
|
Osteopenia, Osteomyelitis, Failure to thrive in infancy, Elevated circulating C-reactive protein ... |
OMIM:612852 |
Fructose-1,6-Bisphosphatase Deficiency |
|
Hepatomegaly, Hypoglycemia, Hyperuricemia, Fasting hypoglycemia, Hyperalaninemia, Hepatic steatos... |
ORPHA:348 |
Hajdu-Cheney Syndrome |
|
Osteopenia, Short neck, Bone pain, Pectus carinatum, Decreased skull ossification, Partial absenc... |
ORPHA:955 |
Poland Syndrome |
|
Syndactyly, Unilateral oligodactyly, Rib fusion, Unilateral brachydactyly, Hemivertebrae, Short r... |
OMIM:173800 |
Focal Dermal Hypoplasia |
|
Macule, Aplasia/Hypoplasia of the skin, Camptodactyly of finger, Skin nodule, Subcutaneous nodule... |
ORPHA:2092 |
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome |
|
Eunuchoid habitus, Short stature, Short neck, Abnormal rib morphology, Obesity, Hemivertebrae, Ab... |
ORPHA:2234 |
Cockayne Syndrome Type 1 |
|
Hepatomegaly, Foot joint contracture, Hypermelanotic macule, Increased blood urea nitrogen, Male ... |
ORPHA:90321 |
Chondrodysplasia Punctata 2, X-Linked Dominant |
|
Rhizomelia, Postaxial polydactyly, Short neck, Postnatal growth retardation, Kyphoscoliosis, Abno... |
OMIM:302960 |
Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Hyperlipidemia, Flexion contracture, Insulin-resistant diabetes mellitus, Hyperinsulinemia, Gluco... |
OMIM:608612 |
Peroxisome Biogenesis Disorder 12A (Zellweger) |
|
Elevated circulating long chain fatty acid concentration, Wide anterior fontanel, Abnormal cortic... |
OMIM:614886 |
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome |
|
Sandal gap, Abnormal rib morphology, Obesity, Hemivertebrae, Abnormal form of the vertebral bodie... |
ORPHA:2180 |
Pituitary Apoplexy |
|
Hyponatremia, Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation te... |
ORPHA:95613 |
Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To |
|
Hypoglycemia, Hyperglutaminemia, Low plasma citrulline, Jaundice, Hyperammonemia, Hyperprolinemia... |
OMIM:615751 |
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome |
|
Renal dysplasia, Hypoparathyroidism, Renal insufficiency, Diabetes mellitus, Unilateral renal age... |
ORPHA:2237 |
Intellectual Developmental Disorder With Macrocephaly, Seizures, And Speech Delay |
|
Recurrent hypoglycemia |
OMIM:618158 |
Intellectual Developmental Disorder, Autosomal Dominant 53 |
|
Short femur, Cryptorchidism, Genu valgum, Growth delay, Micropenis, Hydronephrosis, Joint hypermo... |
OMIM:617798 |
Leprechaunism |
|
Nephrocalcinosis, Increased circulating renin level, Recurrent infantile hypoglycemia, Fasting hy... |
ORPHA:508 |
Smith-Kingsmore Syndrome |
|
Rhizomelia, Hypoglycemia, Large for gestational age, Short proximal phalanx of finger, Cryptorchi... |
OMIM:616638 |
Saul-Wilson Syndrome |
|
Enlarged epiphyses, Short metacarpal, Short stature, Pseudoepiphyses of the metacarpals, Coxa val... |
OMIM:618150 |
Early-Onset Familial Hypoaldosteronism |
|
Hyponatremia, Abnormal external genitalia, Postnatal growth retardation, Hyperkalemia, Abnormal c... |
ORPHA:556030 |
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form |
|
Hepatomegaly, Elevated circulating creatine kinase concentration, Elevated circulating acylcarnit... |
ORPHA:228305 |
Glycogen Storage Disease Ic |
|
Hepatomegaly, Renal insufficiency, Proteinuria, Cyclic neutropenia, Hypoglycemia, Chronic pancrea... |
OMIM:232240 |
Gitelman Syndrome |
|
Urinary incontinence, Maternal diabetes, Decreased urinary potassium, Tubulointerstitial nephriti... |
ORPHA:358 |
Williams-Beuren Syndrome |
|
Osteopenia, Flexion contracture, Nephrocalcinosis, Early onset of sexual maturation, Glucose into... |
OMIM:194050 |
Marburg Hemorrhagic Fever |
|
Reticulocytosis, Lymphopenia, Hypoglycemia, Elevated circulating creatine kinase concentration, H... |
ORPHA:99826 |
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1 |
|
Pathologic fracture, Bone cyst |
OMIM:221770 |
Immunodeficiency 97 With Autoinflammation |
|
Autoimmune hemolytic anemia, Hypertriglyceridemia, Decreased proportion of CD4+CD25+ regulatory T... |
OMIM:619802 |
Thalidomide Embryopathy |
|
Aplasia/Hypoplasia of the thumb, Aplasia/hypoplasia of the humerus, Preaxial hand polydactyly, Ra... |
ORPHA:3312 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1 |
|
Reticulocytosis, Hyperlipidemia, Schistocytosis, Elevated circulating creatinine concentration, M... |
OMIM:235400 |
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency |
|
Metaphyseal chondrodysplasia, Lymphopenia, Hypoplasia of the thymus |
OMIM:200900 |
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly |
|
Hypoplasia of the ulna, Short stature, Thoracic hypoplasia, Metaphyseal spurs, Postaxial polydact... |
OMIM:613091 |
3-Methylcrotonyl-Coa Carboxylase 2 Deficiency |
|
Acute hyperammonemia, Hypoglycemia, Hyperammonemia, Hyperleucinemia, Failure to thrive |
OMIM:210210 |
Apolipoprotein C-Ii Deficiency |
|
Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Increased circulating chylomicron concentration... |
OMIM:207750 |
Rabson-Mendenhall Syndrome |
|
Fasting hyperinsulinemia, Nephrocalcinosis, Fasting hypoglycemia, Hypothyroidism, Enlarged ovarie... |
ORPHA:769 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 22 |
|
Increased serum pyruvate, Elevated circulating dodecanoylcarnitine concentration, Hypoglycemia, E... |
OMIM:619355 |
Shigellosis |
|
Hyponatremia, Hypoglycemia, Pneumonia, Failure to thrive in infancy, Leukocytosis, Peritonitis, A... |
ORPHA:810 |
Spondylometaphyseal Dysplasia, Sedaghatian Type |
|
Short metacarpal, Abnormal scapula morphology, Iliac crest serration, Accelerated skeletal matura... |
ORPHA:93317 |
Alport Syndrome 3A, Autosomal Dominant |
|
Renal insufficiency, Glomerular basement membrane lamellation, Proteinuria, Glomerulonephritis, S... |
OMIM:104200 |
Cholestasis, Progressive Familial Intrahepatic, 8 |
|
Hepatomegaly, Elevated circulating alpha-fetoprotein concentration, Portal hypertension, Conjugat... |
OMIM:619662 |
Lipodystrophy, Familial Partial, Type 2 |
|
Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Acute pancreatitis, ... |
OMIM:151660 |
Frontometaphyseal Dysplasia 1 |
|
Carpal synostosis, Limited elbow movement, Knee flexion contracture, Increased density of long bo... |
OMIM:305620 |
Schimke Immunoosseous Dysplasia |
|
Osteopenia, Bilateral cryptorchidism, Elevated circulating thyroid-stimulating hormone concentrat... |
OMIM:242900 |
Osteopetrosis, Autosomal Recessive 7 |
|
Abnormal trabecular bone morphology, Femur fracture, Osteopetrosis, Hypocalcemic seizures |
OMIM:612301 |
De Barsy Syndrome |
|
Osteopenia, Recurrent sinopulmonary infections, Generalized joint laxity, Thin skin, Emphysema, F... |
ORPHA:2962 |
Beta-Ketothiolase Deficiency |
|
Hepatomegaly, Hypoglycemia, Leukocytosis, Hyperammonemia, Weight loss, Hyperuricemia, Thrombocyto... |
ORPHA:134 |
Long Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency |
|
Hepatomegaly, Hypoglycemia, Cholestatic liver disease, Failure to thrive, Hypoketotic hypoglycemia |
ORPHA:5 |
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly |
|
Hypoplasia of the ulna, Short stature, Conjugated hyperbilirubinemia, Lateral clavicle hook, Earl... |
OMIM:208500 |
Estrogen Resistance Syndrome |
|
Osteopenia, Delayed epiphyseal ossification, Absence of secondary sex characteristics, Hyperinsul... |
ORPHA:785 |
Dentin Dysplasia With Sclerotic Bones |
|
Cortical sclerosis |
OMIM:125440 |
Immunodeficiency 52 |
|
Decreased proportion of CD4-positive T cells, Failure to thrive, Autoimmune thrombocytopenia, Spl... |
OMIM:617514 |
Exercise-Induced Malignant Hyperthermia |
|
Elevated circulating creatine kinase concentration, Hyperkalemia, Hyperphosphatemia, Hypocalcemia... |
ORPHA:466650 |
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections |
|
Scoliosis, Talipes equinovarus, Joint hypermobility, Increased susceptibility to fractures |
OMIM:619752 |
Cat-Eye Syndrome |
|
Intrauterine growth retardation, Hip dysplasia, Abnormal rib morphology, Short stature |
ORPHA:195 |
Acquired Aneurysmal Subarachnoid Hemorrhage |
|
Leukocytosis, Hyperglycemia, Hypercholesterolemia, Hypopituitarism, Hypothyroidism |
ORPHA:90065 |
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type |
|
Rhizomelia, Short stature, Hypoplastic iliac wing, Metaphyseal chondrodysplasia, Abnormality of t... |
ORPHA:163966 |
Acromesomelic Dysplasia 2C |
|
Hypoplasia of the ulna, Shortening of all middle phalanges of the fingers, Radial bowing, Cuboida... |
OMIM:201250 |
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome |
|
Osteopenia, Eunuchoid habitus, Arachnodactyly, Pectus excavatum, Delayed skeletal maturation, Thi... |
ORPHA:2463 |
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis |
|
Increased skull ossification, Craniofacial osteosclerosis, Metaphyseal widening, Diaphyseal scler... |
OMIM:618476 |
Obesity And Hypopigmentation |
|
Hepatic steatosis, Hyperinsulinemia, Obesity |
OMIM:620195 |
Spinal Muscular Atrophy With Congenital Bone Fractures 2 |
|
Multiple prenatal fractures, Arthrogryposis multiplex congenita, Flexion contracture |
OMIM:616867 |
Prader-Willi Syndrome |
|
Osteopenia, Short stature, Small hand, Osteoporosis, Increased susceptibility to fractures, Short... |
ORPHA:739 |
Immunodeficiency, Common Variable, 10 |
|
Psoriasiform dermatitis, Hypoglycemia, Decreased response to growth hormone stimulation test, Rec... |
OMIM:615577 |
Campomelic Dysplasia |
|
Thoracic scoliosis, Anterior tibial bowing, Cervical kyphosis, Delayed epiphyseal ossification, P... |
OMIM:114290 |
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly |
|
Hepatomegaly, Micrognathia, Thyroid lymphangiectasia, Splenomegaly, Postaxial hand polydactyly, C... |
OMIM:235255 |
Metaphyseal Dysostosis-Intellectual Disability-Conductive Deafness Syndrome |
|
Joint laxity, Metaphyseal dysplasia, Broad tibial metaphyses, Equinovarus deformity, Bowing of th... |
ORPHA:2502 |
Becker Nevus Syndrome |
|
Micromelia, Pectus excavatum, Kyphosis, Abnormal tibia morphology, Rib fusion, Pectus carinatum, ... |
ORPHA:64755 |
Histidinuria-Renal Tubular Defect Syndrome |
|
Impaired histidine renal tubular absorption, Hypoglycemia, Histidinuria, Short middle phalanx of ... |
ORPHA:2158 |
Mucopolysaccharidosis, Type Vii |
|
Spatulate ribs, Accelerated skeletal maturation, Short neck, Flexion contracture, Pectus carinatu... |
OMIM:253220 |
Fructose Intolerance, Hereditary |
|
Hepatomegaly, Hypoglycemia, Jaundice, Bicarbonaturia, Hypophosphatemia, Hyperuricemia, Hyperbilir... |
OMIM:229600 |
Hepatic Lipase Deficiency |
|
Hypercholesterolemia, Hypertriglyceridemia, Increased HDL cholesterol concentration |
OMIM:614025 |
Mitochondrial Trifunctional Protein Deficiency |
|
Hypoparathyroidism, Failure to thrive in infancy, Cholestasis, Hypocalcemia, Diffuse hepatic stea... |
ORPHA:746 |
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency |
|
Adrenal hyperplasia, Hypospadias, Hypoglycemia, Renal salt wasting, Adrenogenital syndrome |
OMIM:201910 |
Dicarboxylic Aminoaciduria |
|
Aminoaciduria, Aspartic aciduria, Nephrolithiasis, Fasting hypoglycemia |
OMIM:222730 |
Osteogenesis Imperfecta, Type Xx |
|
Kyphoscoliosis, Multiple prenatal fractures, Asymmetry of the thorax, Disproportionate short-limb... |
OMIM:618644 |
Glutaric Acidemia I |
|
Elevated circulating glutaric acid concentration, Failure to thrive, Hypoglycemia, Hepatomegaly |
OMIM:231670 |
Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Hepatomegaly, Hypoglycemia, Glutaric aciduria, Jaundice, Wide anterior fontanel, Generalized amin... |
OMIM:231680 |
Carnitine-Acylcarnitine Translocase Deficiency |
|
Hepatomegaly, Elevated circulating acylcarnitine concentration, Hyperammonemia, Fasting hypoglyce... |
ORPHA:159 |
Acromesomelic Dysplasia 3 |
|
Hypoplasia of the ulna, Brachydactyly, Hypergonadotropic hypogonadism, Tarsal synostosis, Elevate... |
OMIM:609441 |
Hyperlipoproteinemia, Type I |
|
Splenomegaly, Hyperlipidemia, Jaundice, Hepatosplenomegaly, Lactescent serum, Increased circulati... |
OMIM:238600 |
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia |
|
Osteopenia, Congenital hip dislocation, Decreased response to growth hormone stimulation test, Mi... |
OMIM:616007 |
Retinitis Pigmentosa |
|
Hyperinsulinemia, Obesity, Atypical scarring of skin, Hypogonadism, Type II diabetes mellitus |
ORPHA:791 |
Campomelia, Cumming Type |
|
Abnormally ossified vertebrae, Bowing of the long bones, Micromelia, Abnormal thorax morphology, ... |
ORPHA:1318 |
Alstrom Syndrome |
|
Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Chronic active hepat... |
OMIM:203800 |
Cholera |
|
Hyponatremia, Hypoglycemia, Abnormal blood ion concentration, Hypokalemia, Hypocalcemia, Aspirati... |
ORPHA:173 |
Marshall-Smith Syndrome |
|
Thoracic scoliosis, Large sternal ossification centers, Accelerated skeletal maturation, Distal w... |
OMIM:602535 |
Thyrotoxic Periodic Paralysis |
|
Episodic hypokalemia, Transient hypophosphatemia, Hyperthyroidism, Thyrotoxicosis with toxic sing... |
ORPHA:79102 |
Acro-Renal-Mandibular Syndrome |
|
Abnormal clavicle morphology, Hypoplasia of the ulna, Hypoplastic scapulae, Finger syndactyly, Sh... |
ORPHA:958 |
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease |
|
Increased urinary cortisol level, Paradoxical increased cortisol secretion on dexamethasone suppr... |
ORPHA:189427 |
Ehlers-Danlos Syndrome, Periodontal Type, 1 |
|
Joint laxity, Atrophic scars, Generalized joint laxity, Thin skin |
OMIM:130080 |
Mitochondrial Complex I Deficiency, Nuclear Type 19 |
|
Hypoglycemia |
OMIM:618241 |
Osteopetrosis With Renal Tubular Acidosis |
|
Elevated circulating creatine kinase concentration, Micrognathia, Leukopenia, Hypocalcemia, Hepat... |
ORPHA:2785 |
Otopalatodigital Syndrome Type 2 |
|
Increased bone mineral density, Bowing of the long bones, Failure to thrive, Tarsal synostosis, C... |
ORPHA:90652 |
Hamamy Syndrome |
|
Osteopenia, Syndactyly, Long toe, Recurrent fractures, Down-sloping shoulders, Craniosynostosis, ... |
OMIM:611174 |
X-Linked Dominant Chondrodysplasia Punctata |
|
Abnormally ossified vertebrae, Scarring alopecia of scalp, Abnormal lung morphology, Neonatal epi... |
ORPHA:35173 |
Segmental Outgrowth-Lipomatosis-Arteriovenous Malformation-Epidermal Nevus Syndrome |
|
Recurrent fractures, Reduced bone mineral density |
ORPHA:137608 |
Wiedemann-Rautenstrauch Syndrome |
|
Osteopenia, Decreased response to growth hormone stimulation test, Wide penis, Hypoplastic verteb... |
ORPHA:3455 |
Bachmann-Bupp Syndrome |
|
Hypoglycemia, Hyperbilirubinemia, Large for gestational age |
OMIM:619075 |
8Q24.3 Microdeletion Syndrome |
|
Ectopic posterior pituitary, Congenital hip dislocation, Micromelia, Bilateral renal hypoplasia, ... |
ORPHA:508488 |
Pyridoxine-Dependent Epilepsy |
|
Hypoglycemia |
ORPHA:3006 |
Congenital Disorder Of Glycosylation, Type Iie |
|
Hepatomegaly, Neurogenic bladder, Short stature, Elevated circulating creatine kinase concentrati... |
OMIM:608779 |
Wilson Disease |
|
Back pain, Bone pain, Increased body weight, Weight loss, Arthritis, Pathologic fracture, Failure... |
ORPHA:905 |
Shashi-Pena Syndrome |
|
Hypoglycemia, Osteoporosis, Capillary malformation, Cervical C2/C3 vertebral fusion, Nevus flamme... |
OMIM:617190 |
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency |
|
Hypertriglyceridemia, Obesity, Cholestasis, Hepatitis, Increased LDL cholesterol concentration, A... |
ORPHA:209902 |
Recon Progeroid Syndrome |
|
Joint laxity, Thrombocytopenia, Thin skin, Anemia |
OMIM:620370 |
Glass Syndrome |
|
Thin skin, Generalized osteoporosis, Camptodactyly |
OMIM:612313 |
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes |
|
Cachexia, Hypokalemia, Hypocalcemia, Hypomagnesemia, Anemia |
OMIM:175500 |
Classic Homocystinuria |
|
Arachnodactyly, Recurrent fractures, Joint stiffness, Pectus excavatum, Kyphosis, Osteoporosis, P... |
ORPHA:394 |
Multiple Synostoses Syndrome 1 |
|
Hypoplastic spinal processes, Symphalangism affecting the phalanges of the hand, Cutaneous finger... |
OMIM:186500 |
Bdv Syndrome |
|
Decreased thyroid-stimulating hormone level, Hypogonadotropic hypogonadism, Hyperinsulinemia, Obe... |
OMIM:619326 |
Holt-Oram Syndrome |
|
Syndactyly, Thoracic scoliosis, Hypoplasia of the ulna, Short humerus, Abnormal vertebral morphol... |
OMIM:142900 |
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2 |
|
Preauricular pit, Peripheral pulmonary artery stenosis, Failure to thrive, Craniosynostosis, Thin... |
OMIM:617506 |
Cardiac-Valvular Ehlers-Danlos Syndrome |
|
Hypermobility of distal interphalangeal joints, Atrophic scars, Thin skin, Joint hypermobility |
ORPHA:230851 |
Familial Renal Glucosuria |
|
Elevated hemoglobin A1c, Insulin resistance, Abnormal circulating insulin concentration, Glycosur... |
ORPHA:69076 |
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Recurrent respiratory infections, Joint stiffness, Thrombocytopenia, Flexion contracture, Hepatos... |
ORPHA:505248 |
Hsd10 Disease, Infantile Type |
|
Hypoglycemia, Hyperammonemia |
ORPHA:391428 |
Xeroderma Pigmentosum |
|
Macule, Craniofacial hyperostosis, Hypermelanotic macule, Hypopigmented skin patches, Melanocytic... |
ORPHA:910 |
Schneckenbecken Dysplasia |
|
Hypoplastic scapulae, Increased fibular diameter, Dumbbell-shaped long bone, Accelerated skeletal... |
ORPHA:3144 |
Dystrophic Epidermolysis Bullosa Pruriginosa |
|
Subcutaneous nodule, Atrophic scars, Dermal atrophy, Skin plaque, Milia, Papule |
ORPHA:89843 |
Classic Pantothenate Kinase-Associated Neurodegeneration |
|
Weight loss, Increased susceptibility to fractures |
ORPHA:216866 |
Galloway-Mowat Syndrome 3 |
|
Failure to thrive, Hypoalbuminemia, Camptodactyly |
OMIM:617729 |
Neurodevelopmental Disorder With Variable Motor And Language Impairment |
|
Cafe-au-lait spot, Thin skin, Joint hypermobility |
OMIM:617804 |
Mucopolysaccharidosis, Type X |
|
Irregular acetabular roof, Spatulate ribs, Broad clavicles, Hyperlordosis, Disproportionate short... |
OMIM:619698 |
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii |
|
Osteopenia, Abnormal intervertebral disk morphology, Micromelia, Short neck, Abnormal finger morp... |
ORPHA:2636 |
Pyruvate Carboxylase Deficiency |
|
Hypoglutaminemia, Increased serum pyruvate, Failure to thrive, Hyperglutamatemia, Hypoglycemia, H... |
ORPHA:3008 |
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly |
|
Syndactyly, Short stature, Postaxial polydactyly, Lateral clavicle hook, Preaxial polydactyly, Fe... |
OMIM:615503 |
Atrophoderma Vermiculata |
|
Hypoplastic pilosebaceous units, Periauricular skin pits, Atrophic scars, Skin pit, Hyperkeratoti... |
ORPHA:79100 |
Wiedemann-Rautenstrauch Syndrome |
|
Micrognathia, Flexion contracture, Hypoplasia of the thymus, Genu varum, Long toe, Hypospadias, S... |
OMIM:264090 |
Acquired Generalized Lipodystrophy |
|
Hepatomegaly, Acute pancreatitis, Hypertriglyceridemia, Insulin-resistant diabetes mellitus, Insu... |
ORPHA:79086 |
Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Hepatomegaly, Acute pancreatitis, Hypoglycemia, Elevated circulating creatine kinase concentratio... |
ORPHA:26791 |
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome |
|
Hypergonadotropic hypogonadism, Hyperinsulinemia, Obesity, Type II diabetes mellitus, Keloids |
ORPHA:3085 |
Neuropathy, Hereditary Sensory And Autonomic, Type V |
|
Low back pain, Osteomyelitis, Recurrent fractures, Osteoarthritis, Painless fractures due to inju... |
OMIM:608654 |
Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis |
|
Pes planus, Short femur, Short stature, Talipes, Joint hypermobility, Micrognathia, Hypercalciuri... |
OMIM:300990 |
Gaucher Disease, Type I |
|
Bone pain, Pathologic fracture, Vertebral compression fracture, Avascular necrosis, Erlenmeyer fl... |
OMIM:230800 |
Cog1-Cdg |
|
Osteopenia, Irregularity of vertebral bodies, Rhizomelia, Kyphoscoliosis, Coxa valga, Postnatal g... |
ORPHA:263508 |
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome |
|
Hemolytic anemia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Hepatit... |
ORPHA:444463 |
Carnitine Palmitoyltransferase Ii Deficiency |
|
Hepatomegaly, Elevated circulating creatine kinase concentration, Elevated circulating acylcarnit... |
ORPHA:157 |
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly |
|
Osteopenia, Recurrent respiratory infections, Hepatomegaly, Cholangitis, Craniosynostosis, Pancre... |
OMIM:266920 |
Kaufman Oculocerebrofacial Syndrome |
|
Preauricular skin tag, Failure to thrive, Thin skin, Hypocholesterolemia |
OMIM:244450 |
2-Methylbutyryl-Coa Dehydrogenase Deficiency |
|
Hypoglycemia |
OMIM:610006 |
Van Den Ende-Gupta Syndrome |
|
Glenoid fossa hypoplasia, Lateral clavicle hook, 2-3 toe cutaneous syndactyly, Knee flexion contr... |
OMIM:600920 |
Cranioectodermal Dysplasia 1 |
|
Tubulointerstitial nephritis, Hepatic fibrosis, Hypocalcemia, Joint laxity, Hepatomegaly, Rhizome... |
OMIM:218330 |
Craniofacioskeletal Syndrome |
|
Pes planus, Absent gallbladder, Hypospadias, Short stature, Micrognathia, Cryptorchidism, Hypopla... |
OMIM:300712 |
Severe Neurodegenerative Syndrome With Lipodystrophy |
|
Hepatomegaly, Hypertriglyceridemia, Insulin resistance, Hyperinsulinemia, Cirrhosis, Hepatic stea... |
ORPHA:363400 |
Aggressive Systemic Mastocytosis |
|
Bone pain, Osteoporosis, Osteolysis, Weight loss, Pathologic fracture |
ORPHA:98850 |
Secondary Intestinal Lymphangiectasia |
|
Lymphopenia, Reduced circulating transferrin concentration, Hypoalbuminemia, Cirrhosis, Hypochole... |
ORPHA:90363 |
Multiple Pterygium-Malignant Hyperthermia Syndrome |
|
Finger syndactyly, Severe short stature, Arachnodactyly, Camptodactyly of finger, Tapered finger,... |
ORPHA:2215 |
Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction |
|
Short stature, Recurrent fractures, Rickets |
OMIM:268315 |
Ellis-Van Creveld Syndrome |
|
Hypoplastic iliac wing, Capitate-hamate fusion, Postaxial hand polydactyly, Pectus carinatum, Pos... |
OMIM:225500 |
Obesity Due To Sim1 Deficiency |
|
Glucose intolerance, Hyperinsulinemia, Obesity |
ORPHA:369873 |
Autosomal Dominant Hyper-Ige Syndrome |
|
Osteopenia, Osteomyelitis, Recurrent fractures, Craniosynostosis, Joint hyperflexibility, Scoliosis |
ORPHA:2314 |
Ulna And Fibula, Absence Of, With Severe Limb Deficiency |
|
Short neck, Hemivertebrae, Pectus carinatum, Femoral bowing, Foot oligodactyly, Aplasia/Hypoplasi... |
OMIM:276820 |
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7 |
|
Syndactyly, Small for gestational age, Hypospadias, Decreased response to growth hormone stimulat... |
ORPHA:96182 |
Ritscher-Schinzel Syndrome 3 |
|
Hypoplasia of the ulna, Postnatal growth retardation, Wide anterior fontanel, Ulnar bowing, Poorl... |
OMIM:619135 |
Acrofacial Dysostosis Syndrome Of Rodriguez |
|
Thin skin |
OMIM:201170 |
Orthostatic Hypotension 2 |
|
Hypoglycemia, Anemia |
OMIM:618182 |
Alagille Syndrome 1 |
|
Multiple small medullary renal cysts, Papillary thyroid carcinoma, Vesicoureteral reflux, Hypopla... |
OMIM:118450 |
Lenz-Majewski Hyperostotic Dwarfism |
|
Joint laxity, Hyperextensibility of the finger joints, Anterior pituitary hypoplasia, Humeroradia... |
OMIM:151050 |
Familial Dysautonomia |
|
Hyponatremia, Recurrent fractures, Osteolysis, Growth delay, Scoliosis, Avascular necrosis |
ORPHA:1764 |
Mucopolysaccharidosis, Type Vi |
|
Metaphyseal widening, Flexion contracture, Pectus carinatum, Hypoplastic iliac wing, Broad ribs, ... |
OMIM:253200 |
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency |
|
Hypoplasia of the vagina, Dysmenorrhea, Reduced bone mineral density, Ambiguous genitalia, male, ... |
ORPHA:90796 |
D-Glyceric Aciduria |
|
Hypoglycemia, Nonketotic hyperglycinemia, Growth delay, Aminoaciduria, Micropenis, Failure to thrive |
OMIM:220120 |
Mucopolysaccharidosis Type 3 |
|
Abnormal clavicle morphology, Craniofacial hyperostosis, Joint stiffness, Avascular necrosis of t... |
ORPHA:581 |
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome |
|
Long toe, Hyperextensibility of the finger joints, Pes planus, Absent gallbladder, Hypospadias, R... |
ORPHA:163979 |
Malonyl-Coa Decarboxylase Deficiency |
|
Elevated urine suberic acid level, Short stature, Methylmalonic aciduria, Hypoglycemia |
OMIM:248360 |
Lissencephaly Type 3-Metacarpal Bone Dysplasia Syndrome |
|
Short metacarpal, Abnormal cartilage matrix, Epiphyseal stippling, Talipes equinovarus, Intrauter... |
ORPHA:86822 |
Glucocorticoid Deficiency 2 |
|
Recurrent hypoglycemia, Decreased circulating cortisol level, Increased circulating ACTH level |
OMIM:607398 |
Double Outlet Right Ventricle |
|
Hypoparathyroidism, Hypocalcemia, Pulmonary artery atresia, Failure to thrive, Aplasia/Hypoplasia... |
ORPHA:3426 |
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure |
|
Pleural effusion, Hypoalbuminemia, Thrombocytopenia, Normochromic anemia |
OMIM:254900 |
Sotos Syndrome |
|
Ureteral duplication, Flexion contracture, Pedal edema, Vesicoureteral reflux, Hypothyroidism, Jo... |
ORPHA:821 |
Lathosterolosis |
|
Toe syndactyly, Lumbosacral meningocele, Postaxial hand polydactyly, Osteoporosis, Growth delay, ... |
OMIM:607330 |
Combined Osteogenesis Imperfecta And Ehlers-Danlos Syndrome 2 |
|
Short stature, Recurrent fractures, Joint hypermobility |
OMIM:619120 |
Acth Deficiency, Isolated |
|
Decreased circulating cortisol level, Adrenal hypoplasia, Jaundice, Adrenocorticotropic hormone d... |
OMIM:201400 |
Dilated Cardiomyopathy With Ataxia |
|
Hypoplasia of penis, Bilateral cryptorchidism, Microvesicular hepatic steatosis, Hypochromic micr... |
ORPHA:66634 |
Galloway-Mowat Syndrome 1 |
|
Small for gestational age, Joint contracture of the hand, Hypoalbuminemia, Camptodactyly |
OMIM:251300 |
Shprintzen-Goldberg Craniosynostosis Syndrome |
|
Osteopenia, Joint laxity, Arachnodactyly, Craniosynostosis, Lateral clavicle hook, Pectus excavat... |
OMIM:182212 |
Neuropathy, Hereditary Sensory And Autonomic, Type Iii |
|
Recurrent infections due to aspiration, Elevated circulating creatinine concentration, Increased ... |
OMIM:223900 |
Basilicata-Akhtar Syndrome |
|
Precocious puberty, Camptodactyly, Nevus, Preauricular skin tag, Neonatal hypoglycemia |
OMIM:301032 |
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
|
Hepatomegaly, Renal insufficiency, Dicarboxylic aciduria, Elevated circulating creatine kinase co... |
ORPHA:228308 |
Familial Papillary Or Follicular Thyroid Carcinoma |
|
Bone pain, Recurrent fractures |
ORPHA:319487 |
Immunodeficiency 76 |
|
Splenomegaly, Lymphadenopathy, Growth delay, T lymphocytopenia, B lymphocytopenia, Lymphopenia |
OMIM:619164 |
Mosaic Trisomy 8 |
|
Short stature, Camptodactyly of finger, Short neck, Limitation of joint mobility, Abnormal rib mo... |
ORPHA:96061 |
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance |
|
Respiratory tract infection, Pleural effusion, Hyperlipidemia, Hypoalbuminemia |
ORPHA:567546 |
Congenital Disorder Of Glycosylation, Type It |
|
Hepatomegaly, Decreased serum insulin-like growth factor 1, Hypoglycemia, Elevated circulating cr... |
OMIM:614921 |
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia |
|
Hypoplastic pubic ramus, Proximal placement of thumb, Short neck, Short metatarsal, Patellar hypo... |
OMIM:609945 |
3-Methylglutaconic Aciduria Type 7 |
|
Hepatic steatosis, Renal insufficiency, Renal cyst, Nephrocalcinosis, Growth delay, 3-Methylgluta... |
ORPHA:445038 |
Alagille Syndrome |
|
Hypoplasia of the ulna, Failure to thrive, Delayed skeletal maturation, Abnormal rib morphology, ... |
ORPHA:52 |
Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome |
|
Hypoglycemia, Elevated circulating creatine kinase concentration, Elevated circulating acylcarnit... |
ORPHA:480864 |
Cataract-Growth Hormone Deficiency-Sensory Neuropathy-Sensorineural Hearing Loss-Skeletal Dysplasia Syndrome |
|
Periarticular subcutaneous nodules, Decreased response to growth hormone stimulation test, Fastin... |
ORPHA:436174 |
Hereditary Renal Hypouricemia |
|
Hypouricemia, Increased blood urea nitrogen |
ORPHA:94088 |
Congenital Disorder Of Glycosylation, Type Iib |
|
Hand clenching, Overlapping fingers, Thoracic scoliosis, Recurrent fractures |
OMIM:606056 |
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia |
|
Hypoparathyroidism, Chronic active hepatitis, Female hypogonadism, Premature ovarian insufficienc... |
OMIM:240300 |
Non-Acquired Panhypopituitarism |
|
Osteopenia, Ectopic posterior pituitary, Ectopic anterior pituitary gland, Hypogonadotropic hypog... |
ORPHA:90695 |
Catel-Manzke Syndrome |
|
Joint laxity, Short humerus, Short metacarpal, Short femur, Micrognathia, Postnatal growth retard... |
OMIM:616145 |
Camptodactyly Syndrome, Guadalajara Type 3 |
|
Osteopenia, Short neck, Delayed skeletal maturation, Abnormal rib morphology, Small hand, Short f... |
ORPHA:488434 |
Autoimmune Polyendocrinopathy Type 3 |
|
Osteopenia, Macrocytic anemia, Hypergonadotropic hypogonadism, Autoimmune hypoparathyroidism, Aut... |
ORPHA:227982 |
Autoimmune Polyendocrinopathy Type 4 |
|
Osteopenia, Macrocytic anemia, Hypergonadotropic hypogonadism, Autoimmune thrombocytopenia, Prima... |
ORPHA:227990 |
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis |
|
Lymphopenia, Autoimmune hemolytic anemia, Plasmacytosis, Glomerulonephritis |
OMIM:247800 |
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2 |
|
Vertebral segmentation defect, Abnormal rib morphology, Short stature, Short neck |
ORPHA:2578 |
Lethal Congenital Contracture Syndrome 10 |
|
Thoracic scoliosis, Stiff neck, Overlapping fingers, Short neck, Adducted thumb, Femoral bowing, ... |
OMIM:617022 |
Leigh Syndrome |
|
Multiple joint contractures, Hypoglycemia, Lacticaciduria, Methylmalonic aciduria, Generalized am... |
ORPHA:506 |
Focal Facial Dermal Dysplasia Type I |
|
Skin dimple, Atrophic scars, Spotty hypopigmentation, Aplasia cutis congenita |
ORPHA:79133 |
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1 |
|
Osteopenia, Joint laxity, Recurrent pneumonia, Osteoporosis, Thin skin, Molluscoid pseudotumors |
OMIM:225400 |
Mosaic Trisomy 9 |
|
Hypoplasia of penis, Micromelia, Micrognathia, Asplenia, Finger clinodactyly, Abnormality of the ... |
ORPHA:99776 |
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration |
|
Hypoglycemia, Elevated circulating creatine kinase concentration, Premature thelarche, Elevated c... |
OMIM:616878 |
Intermediate Generalized Junctional Epidermolysis Bullosa |
|
Scarring alopecia of scalp, Atrophic scars, Aplasia cutis congenita, Milia, Anemia |
ORPHA:79402 |
Immunodeficiency 105 |
|
Impaired lymphocyte transformation with phytohemagglutinin, Pancytopenia, Absence of lymph node g... |
OMIM:619924 |
Robinow Syndrome, Autosomal Recessive 1 |
|
Short neck, Hemivertebrae, Short palm, Thoracic hemivertebrae, Duplication of the distal phalanx ... |
OMIM:268310 |
Neurooculorenal Syndrome |
|
Hypoplasia of the bladder, Decreased circulating cortisol level, Ectopic posterior pituitary, Uni... |
OMIM:620305 |
Pancreatic And Cerebellar Agenesis |
|
Diabetes mellitus, Hypoglycemia, Joint stiffness, Flexion contracture, Pancreatic hypoplasia, Hyp... |
OMIM:609069 |
Werner Syndrome |
|
Increased bone mineral density, Aplasia/Hypoplasia of the skin, Joint stiffness, Pulmonary artery... |
ORPHA:902 |
Sclerosteosis 1 |
|
Syndactyly, Sclerotic scapulae, Broad clavicles, 2-3 finger syndactyly, Facial palsy secondary to... |
OMIM:269500 |
Paroxysmal Nocturnal Hemoglobinuria |
|
Hemolytic anemia, Reticulocytosis, Pancytopenia, Decreased serum iron, Abnormal erythrocyte enzym... |
ORPHA:447 |
Autosomal Recessive Palmoplantar Keratoderma And Congenital Alopecia |
|
Subcutaneous nodule, Atypical scarring of skin, Aplasia/Hypoplasia of the skin, Joint stiffness |
ORPHA:1366 |
Arterial Tortuosity Syndrome |
|
Joint laxity, Pulmonary artery stenosis, Flexion contracture, Thin skin |
OMIM:208050 |
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly |
|
Syndactyly, Thoracic hypoplasia, Postaxial polydactyly, Micromelia, Lateral clavicle hook, Hypopl... |
OMIM:617895 |
Multiple Pterygium Syndrome, Escobar Variant |
|
Multiple joint contractures, Short neck, Flexion contracture, Knee flexion contracture, Camptodac... |
OMIM:265000 |
Weill-Marchesani Syndrome 1 |
|
Lumbar hyperlordosis, Short stature, Proportionate short stature, Joint stiffness, Broad metatars... |
OMIM:277600 |
Lysinuric Protein Intolerance |
|
Short stature, Hypolysinemia, Recurrent fractures, Increased circulating ferritin concentration, ... |
OMIM:222700 |
Mucopolysaccharidosis, Type Iiia |
|
Thickened ribs, Joint stiffness, Ovoid thoracolumbar vertebrae, Scoliosis, Dense calvaria |
OMIM:252900 |
Short Stature, Microcephaly, And Endocrine Dysfunction |
|
Lymphopenia, Diabetes mellitus, Short stature, Unilateral renal agenesis, Ectopic kidney, Cryptor... |
OMIM:616541 |
Smith-Lemli-Opitz Syndrome |
|
Hepatomegaly, Sacral dimple, Precocious puberty, Splenomegaly, Abnormal lung lobation, Epiphyseal... |
OMIM:270400 |
Hennekam Syndrome |
|
Finger syndactyly, Mild postnatal growth retardation, Camptodactyly of finger, Craniosynostosis, ... |
ORPHA:2136 |
Basal Cell Nevus Syndrome 1 |
|
Vertebral fusion, Short distal phalanx of the thumb, Down-sloping shoulders, Kyphoscoliosis, Irre... |
OMIM:109400 |
Epidermolysis Bullosa Simplex 5C, With Pyloric Atresia |
|
Aplasia cutis congenita, Flexion contracture |
OMIM:612138 |
Acrorenal-Mandibular Syndrome |
|
Hypoplasia of the ulna, Hypoplastic scapulae, Toe syndactyly, Kyphoscoliosis, Missing ribs, Split... |
OMIM:200980 |
3-Hydroxy-3-Methylglutaric Aciduria |
|
Nonketotic hypoglycemia, Hepatomegaly, Acute pancreatitis, Leukocytosis, Jaundice, Lipid accumula... |
ORPHA:20 |
Reticular Dysgenesis |
|
Leukopenia, Congenital agranulocytosis, Lymphopenia, Hypoplasia of the thymus |
OMIM:267500 |
Perlman Syndrome |
|
Naevus flammeus of the eyelid, Abnormal pancreas morphology, Hyperinsulinemia, Hepatomegaly |
ORPHA:2849 |
Hereditary Sensory And Autonomic Neuropathy Type 1 |
|
Limb pain, Pathologic fracture, Osteomyelitis |
ORPHA:36386 |
Liver Disease, Severe Congenital |
|
Biliary hyperplasia, Leukopenia, Hypocalcemia, Lymphocytosis, Elevated hepatic iron concentration... |
OMIM:619991 |
Isolated Complex I Deficiency |
|
Increased serum pyruvate, Hepatomegaly, Diabetes mellitus, Hypoglycemia, Failure to thrive |
ORPHA:2609 |
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome |
|
Hypothyroidism, Thin skin |
ORPHA:1812 |
Lethal Congenital Contracture Syndrome 5 |
|
Small for gestational age, Elevated circulating creatine kinase concentration, Flexion contractur... |
OMIM:615368 |
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type) |
|
Hepatomegaly, Hypoglycemia, Hepatocellular carcinoma, Microvesicular hepatic steatosis, Micronodu... |
OMIM:256810 |
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14 |
|
Large for gestational age, Short neck, Flexion contracture, Hemivertebrae, Tibial bowing, Narrow ... |
ORPHA:96334 |
Familial Papillary Thyroid Carcinoma With Renal Papillary Neoplasia |
|
Recurrent fractures |
ORPHA:97290 |
Arterial Tortuosity Syndrome |
|
Joint hyperflexibility, Pulmonary artery stenosis, Thin skin, Craniosynostosis |
ORPHA:3342 |
Progressive Hemifacial Atrophy |
|
Aplasia/Hypoplasia of the skin |
ORPHA:1214 |
Methylmalonic Acidemia With Homocystinuria, Type Cblc |
|
Methylmalonic acidemia, Hypomethioninemia, Renal insufficiency, Ketonuria, Glomerulopathy, Hypogl... |
ORPHA:79282 |
Hurler Syndrome |
|
Abnormal clavicle morphology, Short stature, Camptodactyly of finger, Short neck, Limitation of j... |
ORPHA:93473 |
Gaucher Disease Type 3 |
|
Increased bone mineral density, Delayed skeletal maturation, Bone pain, Osteolysis, Increased sus... |
ORPHA:77261 |
X-Linked Intellectual Disability, Snyder Type |
|
Long toe, Short stature, Recurrent fractures, Arachnodactyly, Kyphoscoliosis, Pectus excavatum, K... |
ORPHA:3063 |
H Syndrome |
|
Hallux valgus, Hypertriglyceridemia, Short stature, Recurrent fractures, Delayed skeletal maturat... |
ORPHA:168569 |
Menkes Disease |
|
Bowing of the long bones, Osteomyelitis, Recurrent fractures, Tarsal synostosis, Pectus excavatum... |
ORPHA:565 |
Otopalatodigital Syndrome, Type Ii |
|
Congenital hip dislocation, Elbow contracture, Short neck, Short metatarsal, Femoral bowing, Tibi... |
OMIM:304120 |
Mucopolysaccharidosis, Type Iiic |
|
Thickened ribs, Kyphoscoliosis, Joint stiffness, Ovoid thoracolumbar vertebrae, Beaking of verteb... |
OMIM:252930 |
Klippel-Feil Syndrome 1, Autosomal Dominant |
|
Short neck, Abnormal rib morphology, Scoliosis, Cervical C2/C3 vertebral fusion, Sprengel anomaly... |
OMIM:118100 |
Igg4-Related Thyroid Disease |
|
Nodular goiter, Pancreatic fibrosis, Retroperitoneal fibrosis, Thyrotoxicosis with diffuse goiter... |
ORPHA:64744 |
Prune Belly Syndrome |
|
Congenital hip dislocation, Pectus excavatum, Abnormal rib morphology, Vertebral segmentation def... |
ORPHA:2970 |
Hallermann-Streiff Syndrome |
|
Recurrent fractures, Proportionate short stature, Small hand, Reduced bone mineral density, Short... |
ORPHA:2108 |
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome |
|
Abnormal renal tubular resorption, Hypercalciuria, Hepatic calcification, Hyperprostaglandinuria,... |
ORPHA:73224 |
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion |
|
Joint laxity, Long toe, Overlapping toe, Pectus excavatum, Postnatal growth retardation, Flexion ... |
ORPHA:254528 |
Oculocerebral Hypopigmentation Syndrome, Cross Type |
|
Limitation of joint mobility, Thin skin, Anemia |
ORPHA:2719 |
Infection-Related Hemolytic Uremic Syndrome |
|
Hyponatremia, Hemolytic anemia, Diabetes mellitus, Pneumonia, Respiratory tract infection, Leukoc... |
ORPHA:544482 |
Pelvis-Shoulder Dysplasia |
|
Aplasia/Hypoplasia of the scapulae, Aplasia/Hypoplasia of the fibula, Micrognathia, Prominent pro... |
ORPHA:2839 |
Maternal Uniparental Disomy Of Chromosome 2 |
|
Pes planus, Renal insufficiency, Premature ovarian insufficiency, Hypospadias, Decreased response... |
ORPHA:96179 |
3-Methylglutaconic Aciduria, Type Viib |
|
Rhizomelia, Neonatal hypoglycemia, Micrognathia, Flexion contracture, Growth delay, Leukopenia, 3... |
OMIM:616271 |
Ulerythema Ophryogenesis |
|
Hyperkeratotic papule, Erythematous papule, Dermal atrophy |
ORPHA:3406 |
Momo Syndrome |
|
Short stature, Large for gestational age, Short neck, Obesity, Femoral bowing, Large hands, Short... |
ORPHA:2563 |
Cog8-Cdg |
|
Failure to thrive, Hypoglycemia |
ORPHA:95428 |
Mucopolysaccharidosis, Type Iiib |
|
Thickened ribs, Ovoid thoracolumbar vertebrae, Dense calvaria, Joint stiffness |
OMIM:252920 |
Hereditary Acrokeratotic Poikiloderma |
|
Camptodactyly of finger, Hypopigmented skin patches, Skin ulcer, Joint hyperflexibility, Thin ski... |
ORPHA:2907 |
Porphyria, Congenital Erythropoietic |
|
Osteopenia, Short stature, Osteolysis, Elevated circulating uroporphyrin concentration, Pathologi... |
OMIM:263700 |
Transcobalamin Deficiency |
|
Pancytopenia, Methylmalonic aciduria, Neutropenia, Lymphopenia, Acute kidney injury, Thrombocytop... |
ORPHA:859 |
Superficial Epidermolytic Ichthyosis |
|
Thin skin |
ORPHA:455 |
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome |
|
Reticulocytosis, HbS hemoglobin, Asplenia, Splenomegaly, Splenic infarction, Hypochromic microcyt... |
ORPHA:251380 |
Proteasome-Associated Autoinflammatory Syndrome 3 |
|
Hepatomegaly, Failure to thrive, Hypertriglyceridemia, Thrombocytopenia, Splenomegaly, Flexion co... |
OMIM:617591 |
Xp22.3 Microdeletion Syndrome |
|
Sacral dimple, Aplasia/Hypoplasia of the skin, Hypogonadotropic hypogonadism |
ORPHA:1643 |
Pachydermoperiostosis |
|
Hepatomegaly, Osteomyelitis, Elevated circulating growth hormone concentration, Splenomegaly, Lim... |
ORPHA:2796 |
Mccune-Albright Syndrome |
|
Craniofacial hyperostosis, Polyostotic fibrous dysplasia, Pathologic fracture |
OMIM:174800 |
Multicentric Osteolysis, Nodulosis, And Arthropathy |
|
Osteopenia, Hip contracture, Interphalangeal joint contracture of finger, Ankle flexion contractu... |
OMIM:259600 |
Hypercholesterolemia, Familial, 3 |
|
Xanthelasma, Abnormal LDL cholesterol concentration, Hypercholesterolemia |
OMIM:603776 |
Kabuki Syndrome 2 |
|
Joint laxity, Short stature, Micrognathia, Postnatal growth retardation, Hip dislocation, Horsesh... |
OMIM:300867 |
Simpson-Golabi-Behmel Syndrome |
|
Ureteral duplication, Hypoplasia of penis, Congenital hip dislocation, Clinodactyly of the 5th fi... |
ORPHA:373 |
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures |
|
Short stature, Flexion contracture, Thin ribs, Decreased body weight, Mild short stature |
OMIM:614833 |
Methylmalonic Aciduria And Homocystinuria, Cblj Type |
|
Methylmalonic acidemia, Hypomethioninemia, Delayed skeletal maturation, Hyperhomocystinemia, Bell... |
OMIM:614857 |
Axial Mesodermal Dysplasia Spectrum |
|
Short stature, Short neck, Missing ribs, Abnormal rib morphology, Abnormal form of the vertebral ... |
ORPHA:1834 |
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome |
|
Large for gestational age, Hypopigmented skin patches, Capillary malformation, Cafe-au-lait spot,... |
ORPHA:457485 |
Biliary, Renal, Neurologic, And Skeletal Syndrome |
|
Osteopenia, Anterior pituitary hypoplasia, Conjugated hyperbilirubinemia, Hypoalbuminemia, Hepati... |
OMIM:619534 |
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies |
|
Superior rib anomalies, Abnormality of the cervical spine |
OMIM:307500 |
Poikiloderma With Neutropenia |
|
Joint laxity, Elevated circulating creatine kinase concentration, Joint stiffness, Recurrent bron... |
OMIM:604173 |
Myhre Syndrome |
|
Craniofacial hyperostosis, Brachydactyly, Severe short stature, Joint stiffness, Abnormal rib mor... |
ORPHA:2588 |
Seckel Syndrome 10 |
|
Skin tags, Acute pancreatitis, Hypertriglyceridemia, Diabetes mellitus, Elevated hemoglobin A1c, ... |
OMIM:617253 |
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome |
|
Proximal placement of thumb, Abnormal thumb morphology, Short thumb, Preaxial hand polydactyly, A... |
ORPHA:1120 |
Epidermolysis Bullosa, Junctional 1B, Severe |
|
Atrophic scars, Failure to thrive, Milia, Congenital localized absence of skin |
OMIM:226700 |
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1 |
|
Hyperextensibility of the finger joints, Large for gestational age, Short neck, Hemivertebrae, Na... |
OMIM:213980 |
Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Bone pain, Weight loss, Osteoporosis, Increased susceptibility to fractures |
ORPHA:98849 |
Cerebrotendinous Xanthomatosis |
|
Osteopenia, Abnormality of the vertebral spinous processes, Abnormal tibia morphology, Osteoporos... |
ORPHA:909 |
Hyperkeratosis Lenticularis Perstans |
|
Papule, Aplasia/Hypoplasia of the skin, Skin ulcer |
ORPHA:409 |
Dermatoosteolysis, Kirghizian Type |
|
Aplasia/Hypoplasia of the skin, Tarsal synostosis, Osteoarthritis, Osteolysis, Skin ulcer |
ORPHA:1657 |
Trisomy 13 |
|
Kyphosis, Postaxial hand polydactyly, Abnormal rib morphology, Abnormal pelvic girdle bone morpho... |
ORPHA:3378 |
Combined Pituitary Hormone Deficiencies, Genetic Forms |
|
Osteopenia, Ectopic posterior pituitary, Decreased response to growth hormone stimulation test, A... |
ORPHA:95494 |
Dyskeratosis Congenita |
|
Macule, Recurrent respiratory infections, Hepatomegaly, Diabetes mellitus, Aplasia/Hypoplasia of ... |
ORPHA:1775 |
Hypotrichosis-Lymphedema-Telangiectasia Syndrome |
|
Thin skin |
OMIM:607823 |
Juvenile Polyposis Of Infancy |
|
Anemia, Refractory anemia, Hypoalbuminemia, Cachexia |
ORPHA:79076 |
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures |
|
Intrauterine growth retardation, Hypoglycemia, Thrombocytopenia |
OMIM:617710 |
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency |
|
Flexion contracture, Femoral bowing, Narrow chest, Elbow ankylosis, Abnormal vertebral morphology... |
ORPHA:95699 |
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of |
|
Hepatomegaly, Hypoglycemia, Hepatic steatosis |
OMIM:201450 |
3-Hydroxyacyl-Coa Dehydrogenase Deficiency |
|
Dicarboxylic aciduria, Hypoglycemic seizures, Hepatic necrosis, Growth delay, Myoglobinuria, Hepa... |
OMIM:231530 |
Hypercholesterolemia, Familial, 2 |
|
Increased LDL cholesterol concentration, Xanthelasma, Hypercholesterolemia |
OMIM:144010 |
Helsmoortel-Van Der Aa Syndrome |
|
Joint laxity, Recurrent respiratory infections, Decreased response to growth hormone stimulation ... |
OMIM:615873 |
Hypohidrotic Ectodermal Dysplasia |
|
Failure to thrive, Thin skin |
ORPHA:238468 |
Neurodevelopmental Disorder With Hypotonia, Dysmorphic Facies, And Skeletal Anomalies, With Or Without Seizures |
|
Pes planus, Broad hallux, Hypoglycemia, Tapered finger, Micrognathia, Short thumb, Cryptorchidism... |
OMIM:620224 |
22Q11.2 Deletion Syndrome |
|
Micrognathia, Hypoplasia of the thymus, Hypocalcemia, Abnormality of the uterus, Vesicoureteral r... |
ORPHA:567 |
Congenital Disorder Of Glycosylation, Type Im |
|
Failure to thrive, Hypoketotic hypoglycemia, Increased circulating free fatty acid level |
OMIM:610768 |
Oculodentodigital Dysplasia |
|
Finger syndactyly, Neurogenic bladder, Toe syndactyly, Hypoglycemia, Camptodactyly of finger, Sho... |
ORPHA:2710 |
Autosomal Dominant Popliteal Pterygium Syndrome |
|
Finger syndactyly, Toe syndactyly, Joint stiffness, Split hand, Abnormal rib morphology, Nonketot... |
ORPHA:1300 |
Schinzel-Giedion Midface Retraction Syndrome |
|
Sacrococcygeal teratoma, Long clavicles, Increased density of long bones, Short neck, Postnatal g... |
OMIM:269150 |
Kyphoscoliotic Ehlers-Danlos Syndrome |
|
Osteopenia, Osteoporosis, Atypical scarring of skin, Thin skin, Joint hypermobility |
ORPHA:536545 |
Meckel Syndrome, Type 1 |
|
External genital hypoplasia, Adrenal hypoplasia, Micrognathia, Asplenia, Ambiguous genitalia, fem... |
OMIM:249000 |
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency |
|
Lymphopenia, Absence of lymph node germinal center, T lymphocytopenia, B lymphocytopenia, Failure... |
ORPHA:277 |
Weill-Marchesani Syndrome 2 |
|
Short metacarpal, Lumbar hyperlordosis, Short stature, Proportionate short stature, Joint stiffne... |
OMIM:608328 |
Holoprosencephaly |
|
Hyponatremia, Hypoplasia of penis, Diabetes mellitus, Failure to thrive in infancy, Proteinuria, ... |
ORPHA:2162 |
Immunodeficiency 21 |
|
Osteomyelitis, Aplastic anemia, B lymphocytopenia, Cervical intraepithelial neoplasia, Neutropeni... |
OMIM:614172 |
Ataxia With Vitamin E Deficiency |
|
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia, Xanthelasma |
OMIM:277460 |
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies |
|
Pes planus, Hepatomegaly, Hypoglycemia, Tapered finger, Precocious puberty, Hip dislocation, Obes... |
OMIM:301066 |
Kallmann Syndrome |
|
Recurrent fractures, Delayed skeletal maturation, Obesity, Reduced bone mineral density, Delayed ... |
ORPHA:478 |
Renal-Hepatic-Pancreatic Dysplasia 2 |
|
Hepatomegaly, Hepatic cysts, Malformation of the hepatic ductal plate, Asplenia, Cholestasis, Fem... |
OMIM:615415 |
Beckwith-Wiedemann Syndrome |
|
Ureteral duplication, Neonatal hypoglycemia, Large for gestational age, Vesicoureteral reflux, Ne... |
ORPHA:116 |
Cernunnos-Xlf Deficiency |
|
Anemia, T lymphocytopenia, Growth delay, B lymphocytopenia, Lymphopenia, Thrombocytopenia |
ORPHA:169079 |
Osteopathia Striata With Cranial Sclerosis |
|
Failure to thrive, Short stature, Arachnodactyly, Tracheomalacia, Pectus excavatum, Craniofacial ... |
OMIM:300373 |
Digeorge Syndrome |
|
Micrognathia, Parathyroid hypoplasia, Abnormal thymus morphology, Hypoplasia of the thymus, Hypoc... |
OMIM:188400 |
Gm1-Gangliosidosis, Type I |
|
Severe short stature, Thickened ribs, Short neck, Joint stiffness, Kyphosis, Hypoplastic vertebra... |
OMIM:230500 |
Dermatitis Herpetiformis |
|
Bone pain, Recurrent fractures |
ORPHA:1656 |
Bannayan-Riley-Ruvalcaba Syndrome |
|
Neoplasm of the adrenal cortex, Hypoglycemia, Cachexia, Subcutaneous nodule, Joint hyperflexibili... |
ORPHA:109 |
Short-Rib Thoracic Dysplasia 20 With Polydactyly |
|
Postaxial polydactyly, Short neck, Lateral clavicle hook, Wide anterior fontanel, Preaxial polyda... |
OMIM:617925 |
Craniotubular Dysplasia, Ikegawa Type |
|
Metaphyseal dysplasia, Short stature, Broad femoral neck, Increased intervertebral space, Broad i... |
OMIM:619727 |
Proximal 16P11.2 Microdeletion Syndrome |
|
Craniosynostosis, Rib fusion, Obesity, Hand polydactyly, Scoliosis, Failure to thrive, Abnormal v... |
ORPHA:261197 |
Tetraamelia-Multiple Malformations Syndrome |
|
Aplasia/Hypoplasia involving the pelvis, Abnormally ossified vertebrae, Abnormal rib morphology, ... |
ORPHA:3301 |
Renal-Hepatic-Pancreatic Dysplasia 1 |
|
Asplenia, Hepatic fibrosis, Hepatomegaly, Portal hypertension, Malformation of the hepatic ductal... |
OMIM:208540 |
Femoral-Facial Syndrome |
|
Short fourth metatarsal, Limited elbow movement, Hemivertebrae, Dysplastic sacrum, Short stature,... |
OMIM:134780 |
Craniopharyngioma |
|
Proportionate short stature, Postnatal growth retardation, Obesity, Increased susceptibility to f... |
ORPHA:54595 |
Autosomal Recessive Multiple Pterygium Syndrome |
|
Finger syndactyly, Failure to thrive, Short stature, Camptodactyly of finger, Pectus excavatum, L... |
ORPHA:2990 |
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation |
|
Hepatomegaly, Failure to thrive, Generalized lymphadenopathy, Aplasia of the thymus, Eosinophilia... |
OMIM:602450 |
Congenital Myopathy 22B, Severe Fetal |
|
Hip contracture, Scapular winging, Thoracic scoliosis, Limb joint contracture, Shoulder flexion c... |
OMIM:620369 |
Gaucher Disease |
|
Osteopenia, Increased bone mineral density, Osteomyelitis, Short stature, Recurrent fractures, El... |
ORPHA:355 |
Pseudoaminopterin Syndrome |
|
Limited elbow movement, Micrognathia, Asplenia, Patchy reduction of bone mineral density, Synosto... |
ORPHA:221120 |
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis |
|
Arachnodactyly, Rocker bottom foot, Wide anterior fontanel, Ulnar bowing, Humeroradial synostosis... |
OMIM:207410 |
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility |
|
Asplenia, Male infertility |
OMIM:618948 |
Adult Syndrome |
|
Thin skin, Skin ulcer, Melanocytic nevus |
ORPHA:978 |
Monocarboxylate Transporter 1 Deficiency |
|
Ketotic hypoglycemia |
OMIM:616095 |
Stormorken-Sjaastad-Langslet Syndrome |
|
Asplenia, Short stature, Anemia |
ORPHA:3204 |
Epidermolysis Bullosa Simplex With Pyloric Atresia |
|
Aplasia cutis congenita on trunk or limbs, Elevated circulating creatine kinase concentration, Sc... |
ORPHA:158684 |
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia |
|
Macrocytic anemia, Pancytopenia, Anemia of inadequate production, Megaloblastic anemia, Septic ar... |
OMIM:617780 |
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency |
|
Lymphopenia, Eosinophilia, Autoimmune thrombocytopenia, Decreased proportion of CD8-positive T ce... |
ORPHA:169154 |
Sotos Syndrome |
|
Joint laxity, Pes planus, Abnormality of the kidney, Cryptorchidism, Long metacarpals, Increased ... |
OMIM:117550 |
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly |
|
Rhizomelia, Postaxial polydactyly, Unicoronal synostosis, Squared iliac bones, Preaxial polydacty... |
OMIM:616300 |
Generalized Arterial Calcification Of Infancy |
|
Abnormal calcification of the carpal bones, Hypophosphatemic rickets, Osteomalacia, Fused cervica... |
ORPHA:51608 |
Warburg-Cinotti Syndrome |
|
Ankle flexion contracture, Pneumothorax, Elbow flexion contracture, Osteolytic defects of the pha... |
OMIM:618175 |
Houge-Janssens Syndrome 1 |
|
Hypoglycemia |
OMIM:616355 |
Short Fifth Metacarpals-Insulin Resistance Syndrome |
|
Splenomegaly, Spherocytosis, Hyperinsulinemia |
ORPHA:66518 |
Rapp-Hodgkin Syndrome |
|
Thin skin |
OMIM:129400 |
Cerebrocostomandibular Syndrome |
|
Rib gap, 10 pairs of ribs, 11 pairs of ribs, Congenital hip dislocation, Anomalous rib insertion ... |
OMIM:117650 |
Restrictive Dermopathy 1 |
|
Limb joint contracture, Adrenal hypoplasia, Ankylosis, Flexion contracture, Decreased calvarial o... |
OMIM:275210 |
Granulomatous Disease, Chronic, Autosomal Recessive, 5 |
|
Hemolytic anemia, Acute pancreatitis, Short stature, Abscess, Perianal abscess, Splenomegaly, Lym... |
OMIM:618935 |
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias |
|
Decreased proportion of CD4+CD25+ regulatory T cells, Follicular hyperplasia, Autoimmune thromboc... |
OMIM:619846 |
Kosaki Overgrowth Syndrome |
|
Xanthelasma, Thin skin |
OMIM:616592 |
Kagami-Ogata Syndrome |
|
Long clavicles, Kyphoscoliosis, Coxa valga, Long fingers, Flexion contracture, Thin ribs, Bell-sh... |
OMIM:608149 |
Lymphangiectasia, Intestinal |
|
Intestinal lymphangiectasia, Lymphopenia, Neonatal hypoproteinemia, Pedal edema |
OMIM:152800 |
Epidermolysis Bullosa With Congenital Localized Absence Of Skin And Deformity Of Nails |
|
Congenital localized absence of skin |
OMIM:132000 |
Kbg Syndrome |
|
Vertebral fusion, Syndactyly, Short stature, Short neck, Delayed skeletal maturation, Rib fusion,... |
OMIM:148050 |
Isotretinoin-Like Syndrome |
|
Micrognathia, Postnatal growth retardation, Hypocalcemia, Intrauterine growth retardation, Lympho... |
ORPHA:2306 |
T-Cell Immunodeficiency With Thymic Aplasia |
|
Decreased proportion of naive T cells, Aplasia of the thymus, Pneumonia, Atypical or prolonged he... |
ORPHA:83471 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 23 |
|
Hypoglycemia, Elbow contracture |
OMIM:620275 |
Kagami-Ogata Syndrome |
|
Kyphoscoliosis, Coxa valga, Postnatal growth retardation, Large for gestational age, Short neck, ... |
ORPHA:254519 |
Aspergillosis |
|
Abnormal long bone morphology, Abnormality of the vertebral column, Osteomyelitis, Abnormal rib m... |
ORPHA:1163 |
Mitochondrial Complex I Deficiency, Nuclear Type 20 |
|
Microvesicular hepatic steatosis, Dicarboxylic aciduria, Hypoglycemia, Thrombocytopenia |
OMIM:611126 |
Lipodystrophy, Congenital Generalized, Type 1 |
|
Cystic angiomatosis of bone, Hepatomegaly, Diabetes mellitus, Hypertriglyceridemia, Acute pancrea... |
OMIM:608594 |
Ataxia-Telangiectasia |
|
Lymphopenia, Diabetes mellitus, Female hypogonadism, Short stature, Elevated circulating alpha-fe... |
OMIM:208900 |
Keppen-Lubinsky Syndrome |
|
Postnatal growth retardation, Flexion contracture, Increased susceptibility to fractures, Scolios... |
ORPHA:435628 |
Ear-Patella-Short Stature Syndrome |
|
Severe short stature, Camptodactyly of finger, Aplastic clavicle, Craniosynostosis, Delayed skele... |
ORPHA:2554 |
Myhre Syndrome |
|
Short neck, Hypoplastic iliac wing, Broad ribs, Vertebral fusion, Short stature, Short toe, 2-3 t... |
OMIM:139210 |
Goodpasture Syndrome |
|
Nodular pattern on pulmonary HRCT, Weight loss, Hemosiderin-laden macrophages in bronchoalveolar ... |
OMIM:233450 |
10Q22.3Q23.3 Microduplication Syndrome |
|
Abnormal clavicle morphology, Abnormal rib morphology |
ORPHA:276422 |
Ulbright-Hodes Syndrome |
|
Short humerus, Short metacarpal, Short neck, Postnatal growth retardation, Humeroradial synostosi... |
ORPHA:3404 |
Thrombocytopenia-Absent Radius Syndrome |
|
Lateral clavicle hook, Femoral bowing, Abnormal shoulder morphology, Clinodactyly of the 5th fing... |
OMIM:274000 |
Lipodystrophy, Congenital Generalized, Type 2 |
|
Cystic angiomatosis of bone, Hepatomegaly, Hypertriglyceridemia, Acute pancreatitis, Elevated hem... |
OMIM:269700 |
Septopreoptic Holoprosencephaly |
|
Abnormal rib morphology, Abnormal vertebral morphology |
ORPHA:280195 |
Neutropenia, Severe Congenital, 4, Autosomal Recessive |
|
Leukopenia, Hypoplasia of the thymus, Neutropenia, Hepatomegaly, Perianal abscess, Cryptorchidism... |
OMIM:612541 |
Wolf-Hirschhorn Syndrome |
|
Rib segmentation abnormalities, Hypoplastic pubic ramus, Sacral dimple, Arachnodactyly, Short hal... |
ORPHA:280 |
Immunodeficiency 85 And Autoimmunity |
|
Failure to thrive in infancy, Oligoarthritis, Growth delay, T lymphocytopenia, Decreased proporti... |
OMIM:619510 |
Pgm3-Cdg |
|
Hemolytic anemia, Lymphopenia, Membranoproliferative glomerulonephritis, Abnormal proportion of C... |
ORPHA:443811 |
Intellectual Developmental Disorder, Autosomal Dominant 45 |
|
Slender build, Neonatal hypoglycemia |
OMIM:617600 |
Mandibuloacral Dysplasia Progeroid Syndrome |
|
Osteopenia, Hypertriglyceridemia, Short stature, Elevated hemoglobin A1c, Sandal gap, Joint stiff... |
OMIM:619127 |
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type |
|
Rickets |
OMIM:219900 |
Charge Syndrome |
|
Decreased response to growth hormone stimulation test, External genital hypoplasia, Micrognathia,... |
OMIM:214800 |
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies |
|
Sprengel anomaly, Abnormality of the vertebral column, Abnormal rib morphology, Short stature |
OMIM:601076 |
Adult Syndrome |
|
Dermal atrophy, Thin skin |
OMIM:103285 |
Nodular Non-Suppurative Panniculitis |
|
Hepatomegaly, Aplasia/Hypoplasia of the skin, Splenomegaly, Subcutaneous nodule, Weight loss |
ORPHA:33577 |
Desmosterolosis |
|
Increased bone mineral density, Aplasia/Hypoplasia of the skin, Splenomegaly, Anomalous pulmonary... |
ORPHA:35107 |
Legionnaires Disease |
|
Hyponatremia, Renal insufficiency, Proteinuria, Splenomegaly, Jaundice, Hepatitis, Lymphadenopath... |
ORPHA:549 |
Mucopolysaccharidosis, Type Iiid |
|
Epiphyseal dysplasia, Thoracic scoliosis, Thickened ribs, Short stature, Pilonidal sinus, Joint s... |
OMIM:252940 |
Localized Junctional Epidermolysis Bullosa |
|
Limb joint contracture, Scarring alopecia of scalp, Atypical scarring of skin, Milia, Aplasia cut... |
ORPHA:251393 |
Primary Hyperoxaluria |
|
Hyperoxaluria, Recurrent fractures, Generalized osteosclerosis, Bone pain, Failure to thrive |
ORPHA:416 |
Spinal Muscular Atrophy With Congenital Bone Fractures 1 |
|
Multiple prenatal fractures, Arthrogryposis multiplex congenita, Flexion contracture |
OMIM:616866 |
Steinert Myotonic Dystrophy |
|
Endometrial carcinoma, Diabetes mellitus, Hypergonadotropic hypogonadism, Decreased response to g... |
ORPHA:273 |
Deeah Syndrome |
|
Decreased hemoglobin concentration, Hepatomegaly, Short stature, Decreased response to growth hor... |
OMIM:619004 |
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome |
|
Limited elbow movement, Micrognathia, T lymphocytopenia, Narrow greater sciatic notch, Short phal... |
ORPHA:508533 |
Mitochondrial Complex I Deficiency, Nuclear Type 1 |
|
3-hydroxydicarboxylic aciduria, Hepatomegaly, Hypospadias, Hypoglycemia, Splenomegaly, Lacticacid... |
OMIM:252010 |
Johanson-Blizzard Syndrome |
|
Conjugated hyperbilirubinemia, Hepatic fibrosis, Hypocalcemia, Clinodactyly of the 5th finger, Mi... |
OMIM:243800 |
Laryngotracheoesophageal Cleft Type 4 |
|
Abnormal rib morphology, Cachexia, Abnormal form of the vertebral bodies |
ORPHA:93941 |
Pmm2-Cdg |
|
Osteopenia, Joint laxity, Multiple joint contractures, Hypogonadotropic hypogonadism, Elevated ci... |
ORPHA:79318 |
Asplenia, Isolated Congenital |
|
Asplenia, Thrombocytosis, Howell-Jolly bodies |
OMIM:271400 |
Hyperoxaluria, Primary, Type I |
|
Hyperoxaluria, Increased bone mineral density, Bone pain, Pathologic fracture |
OMIM:259900 |
Autoimmune Polyendocrine Syndrome, Type Ii |
|
Hyperthyroidism, Asplenia, Primary adrenal insufficiency, Hepatitis, Thymoma, Chronic hepatitis, ... |
OMIM:269200 |
Hallermann-Streiff Syndrome |
|
Small for gestational age, Proportionate short stature, Hyperlordosis, Pectus excavatum, Metaphys... |
OMIM:234100 |
Hypoglossia With Situs Inversus |
|
Asplenia, Polysplenia, Micrognathia |
OMIM:612776 |
Macrocephaly/Autism Syndrome |
|
Joint laxity, Hepatomegaly, Penile freckling, Large for gestational age, Splenomegaly, Obesity, H... |
OMIM:605309 |
Self-Improving Dystrophic Epidermolysis Bullosa |
|
Skin erosion, Atrophic scars, Aplasia cutis congenita, Milia, Anemia |
ORPHA:79411 |
Gm1-Gangliosidosis, Type Ii |
|
Hepatomegaly, Joint stiffness, Splenomegaly, Sea-blue histiocytosis, Failure to thrive, Thin bony... |
OMIM:230600 |
Alpha-Mannosidosis, Infantile Form |
|
Osteopenia, Joint laxity, Thickened ribs, Craniosynostosis, Joint stiffness, Pectus excavatum, Sh... |
ORPHA:309282 |
Combined Oxidative Phosphorylation Defect Type 39 |
|
Cryptorchidism, Congenital foot contractures, Ankle clonus, Prominent calcaneus, Neonatal hypogly... |
ORPHA:565624 |
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly |
|
Lateral clavicle hook, Preaxial hand polydactyly, Postaxial hand polydactyly, Pectus carinatum, D... |
OMIM:263520 |
Bangstad Syndrome |
|
Abnormality of the parathyroid gland, Hyperinsulinemia, Increased circulating cortisol level, Pri... |
ORPHA:1227 |
Purine Nucleoside Phosphorylase Deficiency |
|
Lymphopenia, Autoimmune hemolytic anemia, Recurrent urinary tract infections, Hypouricemia, Incre... |
OMIM:613179 |
Monosomy 9Q22.3 |
|
Accelerated skeletal maturation, Pectus excavatum, Large for gestational age, Short neck, Kyphosi... |
ORPHA:77301 |
Loeys-Dietz Syndrome |
|
Camptodactyly of finger, Craniosynostosis, Atypical scarring of skin, Joint hyperflexibility, Thi... |
ORPHA:60030 |
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome |
|
Osteopenia, Functional abnormality of the bladder, T lymphocytopenia, Short stature, Autoimmune t... |
ORPHA:391487 |
Fructose-1,6-Bisphosphatase Deficiency |
|
Hepatomegaly, Hypoglycemia |
OMIM:229700 |
Immunodeficiency 59 And Hypoglycemia |
|
Hepatomegaly, Hypoglycemia, Recurrent upper respiratory tract infections, Decreased proportion of... |
OMIM:233600 |
Sweeney-Cox Syndrome |
|
2-4 finger syndactyly, 2-5 finger cutaneous syndactyly, Micrognathia, Asplenia, Long fingers, Bil... |
OMIM:617746 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 1 |
|
Hypertyrosinemia, Hypoglycemia, Cholangitis, Microvesicular hepatic steatosis, Cholestasis, Recur... |
OMIM:124000 |
Radio-Renal Syndrome |
|
Severe short stature, Micromelia, Short neck, Hypoplasia of the radius, Abnormal rib morphology, ... |
ORPHA:3015 |
Wolf-Hirschhorn Syndrome |
|
Abnormal form of the vertebral bodies, Intrauterine growth retardation, Vertebral fusion, Short s... |
OMIM:194190 |
Short-Rib Thoracic Dysplasia 12 |
|
Hypoplastic scapulae, Bowing of the legs, Bowing of the arm, Short neck, Short toe, Short thorax,... |
OMIM:269860 |
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies |
|
Vertebral fusion, Block vertebrae, Missing ribs, Short neck, Rib fusion, Hemivertebrae, Thin ribs... |
OMIM:271520 |
Spondyloenchondrodysplasia With Immune Dysregulation |
|
Metaphyseal dysplasia, Short stature, Short iliac bones, Metaphyseal sclerosis, Autoimmune thromb... |
OMIM:607944 |
Woodhouse-Sakati Syndrome |
|
Osteopenia, Streak ovary, Decreased response to growth hormone stimulation test, Insulin-resistan... |
ORPHA:3464 |
Immunodeficiency 36 With Lymphoproliferation |
|
Short stature, Splenomegaly, Enlarged tonsils, Chronic lymphatic leukemia, Growth delay, Increase... |
OMIM:616005 |
Brittle Cornea Syndrome 2 |
|
Recurrent fractures, Joint hypermobility |
OMIM:614170 |
Lenz-Majewski Hyperostotic Dwarfism |
|
Increased bone mineral density, Cranial hyperostosis, Limitation of joint mobility, Joint hyperfl... |
ORPHA:2658 |
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation |
|
Small for gestational age, Large for gestational age, Postnatal growth retardation, Coat hanger s... |
ORPHA:254534 |
Oculocerebrocutaneous Syndrome |
|
Finger syndactyly, Congenital hip dislocation, Aplasia/Hypoplasia of the distal phalanges of the ... |
ORPHA:1647 |
Vater/Vacterl Association |
|
Syndactyly, Postnatal growth retardation, Short thumb, Absent radius, Hypoplasia of the radius, A... |
OMIM:192350 |
Trisomy 1Q |
|
Toe syndactyly, Arachnodactyly, Camptodactyly of finger, Preaxial hand polydactyly, Short thorax,... |
ORPHA:261344 |
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination |
|
Short humerus, Short femur, Tapered finger |
OMIM:618367 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency |
|
Diffuse mesangial sclerosis, Lymphopenia, Autoimmune hemolytic anemia, Severe B lymphocytopenia, ... |
OMIM:102700 |
Ethylene Glycol Poisoning |
|
Renal insufficiency, Hyperkalemia, Renal tubular epithelial necrosis, Renal tubular dysfunction, ... |
ORPHA:31826 |
Exudative Vitreoretinopathy 1 |
|
Recurrent fractures |
OMIM:133780 |
Pediatric Systemic Lupus Erythematosus |
|
Dark urine, Renal insufficiency, Proteinuria, Lymphadenopathy, Hematuria, Nephrotic syndrome, Leu... |
ORPHA:93552 |
Primary Ciliary Dyskinesia |
|
Male infertility, Female infertility, Asplenia, Clubbing, Polysplenia, Abnormal sperm motility |
ORPHA:244 |
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia |
|
Pancytopenia, Generalized lymphadenopathy, Impaired neutrophil chemotaxis, Lymphadenitis, Neutrop... |
OMIM:618986 |
Vacterl/Vater Association |
|
Finger syndactyly, Abnormal intervertebral disk morphology, Preaxial hand polydactyly, Abnormal s... |
ORPHA:887 |
Perlman Syndrome |
|
Nephrogenic rest, Hypoglycemia, Renal hamartoma, Micrognathia, Large for gestational age, Cryptor... |
OMIM:267000 |
Meckel Syndrome |
|
Accessory spleen, Ureteral duplication, Multicystic kidney dysplasia, Bowing of the long bones, P... |
ORPHA:564 |
Baller-Gerold Syndrome |
|
Limited elbow movement, Patellar hypoplasia, Spina bifida occulta, Abnormal vertebral morphology,... |
OMIM:218600 |
Autosomal Recessive Robinow Syndrome |
|
Short neck, Pectus carinatum, Vertebral segmentation defect, Clinodactyly of the 5th finger, Syno... |
ORPHA:1507 |
Autoimmune Lymphoproliferative Syndrome |
|
Thyroid carcinoma, Lymphocytosis, Increased B cell count, Elevated proportion of CD4-negative, CD... |
ORPHA:3261 |
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked |
|
Thin skin, Hypoplastic-absent sebaceous glands |
OMIM:305100 |
Cerebrofaciothoracic Dysplasia |
|
Short stature, Short neck, Rib fusion, Hemivertebrae, Vertebral segmentation defect, Narrow chest... |
ORPHA:1394 |
Immunodeficiency 31C |
|
Impaired lymphocyte transformation with phytohemagglutinin, Osteopenia, Autoimmune hemolytic anem... |
OMIM:614162 |
Chronic Visceral Acid Sphingomyelinase Deficiency |
|
Osteopenia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Short stature, Hyperli... |
ORPHA:77293 |
Dyskeratosis Congenita, Autosomal Dominant 1 |
|
Aplastic anemia, Thrombocytopenia, Osteoporosis, Hepatic necrosis, Leukopenia, Interstitial pneum... |
OMIM:127550 |
Velocardiofacial Syndrome |
|
Pulmonary artery atresia, Hypoparathyroidism, Hypocalcemia, Unilateral primary pulmonary dysgenesis |
OMIM:192430 |
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities |
|
Epiphyseal dysplasia, Metaphyseal dysplasia, Eosinophilia, Coxa valga, Disproportionate short sta... |
OMIM:617425 |
Lmna-Related Cardiocutaneous Progeria Syndrome |
|
Hypertriglyceridemia, Pulmonary carcinoid tumor, Papillary renal cell carcinoma, Abnormal intrahe... |
ORPHA:363618 |
Bone Marrow Failure Syndrome 6 |
|
Osteopenia, Persistence of hemoglobin F, Increased mean corpuscular volume, Bone marrow hypocellu... |
OMIM:618849 |
Sting-Associated Vasculopathy, Infantile-Onset |
|
Lymphopenia, Elevated circulating C-reactive protein concentration, Follicular hyperplasia, Joint... |
OMIM:615934 |
Mesomelia-Synostoses Syndrome |
|
Ulnar deviation of the hand, Progressive forearm bowing, Micromelia, Short metatarsal, Tibial bow... |
OMIM:600383 |
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency |
|
Lymphopenia, Hepatomegaly, Decreased proportion of naive T cells, Jaundice, Lymph node hypoplasia... |
ORPHA:276 |
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome |
|
Congenital hip dislocation, Hypoglycemia, Supernumerary nipple, Wide anterior fontanel, Contractu... |
ORPHA:457279 |
X-Linked Acrogigantism |
|
Decreased thyroid-stimulating hormone level, Increased body mass index, Enlarged pituitary gland,... |
ORPHA:300373 |
Neurofibromatosis Type 1 |
|
Short stature, Recurrent fractures, Joint stiffness, Kyphosis, Genu valgum, Slender long bone, Ab... |
ORPHA:636 |
Focal Facial Dermal Dysplasia Type Iii |
|
Multiple cafe-au-lait spots, Aplasia/Hypoplasia of the skin, Hypopigmented skin patches |
ORPHA:1807 |
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency |
|
Lymphopenia, Abnormal B cell count, Abnormal T cell count, Autoimmune hemolytic anemia, Eosinophi... |
ORPHA:331206 |
Vascular Ehlers-Danlos Syndrome |
|
Macule, Osteoarthritis, Pneumothorax, Subcutaneous nodule, Osteolysis, Cigarette-paper scars, Mel... |
ORPHA:286 |
Lichen Planopilaris |
|
Hypopigmented skin patches, Skin ulcer, Hepatitis, Dermal atrophy, Papule |
ORPHA:525 |
Syndromic Diarrhea |
|
Hepatomegaly, Small for gestational age, Short stature, Increased mean platelet volume, Splenomeg... |
ORPHA:84064 |
Hypermobile Ehlers-Danlos Syndrome |
|
Osteoarthritis, Subcutaneous nodule, Limitation of joint mobility, Osteolysis, Atypical scarring ... |
ORPHA:285 |
Adams-Oliver Syndrome |
|
Aplasia/Hypoplasia of the skin, Portal hypertension, Congenital hepatic fibrosis, Leukopenia, Cir... |
ORPHA:974 |
Prader-Willi Syndrome |
|
Osteopenia, Recurrent respiratory infections, Failure to thrive in infancy, Hypogonadotropic hypo... |
OMIM:176270 |
Epidermolysis Bullosa Simplex With Muscular Dystrophy |
|
Skin vesicle, Aplasia/Hypoplasia of the skin, Dermal atrophy, Papule |
ORPHA:257 |
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome |
|
11 pairs of ribs, Accessory spleen, Severe B lymphocytopenia, Craniosynostosis, Tapered finger, M... |
OMIM:620005 |
Fetal Akinesia Deformation Sequence 1 |
|
Hip contracture, Ulnar deviation of the hand, Small for gestational age, Elbow contracture, Campt... |
OMIM:208150 |
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies |
|
Hyperextensibility of the finger joints, Internally rotated shoulders, Decreased response to grow... |
OMIM:619503 |
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome |
|
Recurrent respiratory infections, Hypoalbuminemia, Abnormal pulmonary interstitial morphology |
OMIM:614748 |
Midface Hypoplasia, Obesity, Developmental Delay, And Neonatal Hypotonia |
|
Obesity, Neonatal hypoglycemia |
OMIM:608624 |
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome |
|
Postaxial hand polydactyly, Abnormal rib morphology, Abnormal sternum morphology, Short ribs, Bro... |
ORPHA:2519 |
Purine Nucleoside Phosphorylase Deficiency |
|
Lymphopenia, Autoimmune hemolytic anemia, Hypouricemia, Autoimmune thrombocytopenia, Abnormal T c... |
ORPHA:760 |
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7 |
|
Osteopenia, Portal hypertension, Cryptorchidism, Anemia, Type I diabetes mellitus, Lymphopenia, T... |
OMIM:620365 |
Trisomy 18 |
|
Short stature, Camptodactyly of finger, Cachexia, Postaxial hand polydactyly, Delayed skeletal ma... |
ORPHA:3380 |
Aplasia Cutis-Myopia Syndrome |
|
Aplasia cutis congenita, Skin ulcer |
ORPHA:1117 |
Curry-Jones Syndrome |
|
Aplasia/Hypoplasia of the skin, Hypopigmented skin patches, Craniosynostosis |
ORPHA:1553 |
Cardiofacioneurodevelopmental Syndrome |
|
Micrognathia, Asplenia, Cryptorchidism, Abdominal situs inversus, Camptodactyly, Clinodactyly of ... |
OMIM:619123 |
Neurodevelopmental Disorder With Hypotonia, Craniofacial Abnormalities, And Seizures |
|
Small for gestational age, Hypoglycemia, Tapered finger, Micrognathia, Talipes equinovarus, Short... |
OMIM:614501 |
Ablepharon Macrostomia Syndrome |
|
Camptodactyly of finger, Thin skin |
ORPHA:920 |
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1 |
|
Recurrent respiratory infections, Hypogonadotropic hypogonadism, Decreased response to growth hor... |
OMIM:129900 |
Aplasia Cutis Congenita With Intestinal Lymphangiectasia |
|
Intestinal lymphangiectasia, Lymphopenia, Hypoproteinemia |
OMIM:207731 |
T-Cell Immunodeficiency With Thymic Aplasia |
|
Failure to thrive, Aplasia of the thymus, Hepatosplenomegaly, T lymphocytopenia, Abnormally low T... |
OMIM:242700 |
Aicardi Syndrome |
|
Block vertebrae, Missing ribs, Rib fusion, Small hand, Hip dysplasia, Supernumerary ribs, Bifid r... |
ORPHA:50 |
Laterality Defects, Autosomal Dominant |
|
Asplenia |
OMIM:601086 |
Microphthalmia, Syndromic 3 |
|
Vertebral fusion, Short stature, Missing ribs, Postnatal growth retardation, Rib fusion, Hemivert... |
OMIM:206900 |
Beckwith-Wiedemann Syndrome |
|
Hepatomegaly, Overgrowth of external genitalia, Adrenocortical cytomegaly, Hepatoblastoma, Neonat... |
OMIM:130650 |
Costello Syndrome |
|
Hyperextensibility of the finger joints, Hypoglycemia, Limited elbow movement, Achilles tendon co... |
OMIM:218040 |
Frank-Ter Haar Syndrome |
|
Osteopenia, Wide anterior fontanel, Osteoporosis, Camptodactyly, Cortical irregularity |
OMIM:249420 |
Cardiospondylocarpofacial Syndrome |
|
Joint laxity, Short stature, Tarsal synostosis, Delayed skeletal maturation, Rib fusion, Cone-sha... |
OMIM:157800 |
Aicardi Syndrome |
|
Block vertebrae, Proximal placement of thumb, Missing ribs, Postnatal growth retardation, Rib fus... |
OMIM:304050 |
Tropical Endomyocardial Fibrosis |
|
Hepatomegaly, Eosinophilia, Cachexia, Splenomegaly, Hypoalbuminemia |
ORPHA:75565 |
X-Linked Myotubular Myopathy-Abnormal Genitalia Syndrome |
|
Joint hypermobility, Thin ribs |
ORPHA:456328 |
Khan-Khan-Katsanis Syndrome |
|
Ureteral duplication, Lymphopenia, Short stature, Postaxial polydactyly, Micrognathia, Renal hypo... |
OMIM:618460 |
Aspartylglucosaminuria |
|
Joint laxity, Short stature, Kyphosis, Delayed skeletal maturation, Platyspondyly, Spondylolysis,... |
OMIM:208400 |
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome |
|
Hepatomegaly, Pancytopenia, Renal artery aneurysm, Elevated circulating C-reactive protein concen... |
OMIM:615688 |
Immunodeficiency 87 And Autoimmunity |
|
Decreased proportion of CD4-positive T cells, Hemolytic anemia, Lymphopenia, Hypertriglyceridemia... |
OMIM:619573 |
Autosomal Recessive Cutis Laxa Type 1 |
|
Joint laxity, Severe short stature, Wide anterior fontanel, Hip dislocation, Intrauterine growth ... |
ORPHA:90349 |
Microcephaly, Epilepsy, And Diabetes Syndrome 1 |
|
Osteopenia, Pathologic fracture, Obesity |
OMIM:614231 |
Huriez Syndrome |
|
Aplasia/Hypoplasia of the skin |
ORPHA:384 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 5 |
|
Hypoglycemia, Small for gestational age, Increased hepatocellular lipid droplets, Microvesicular ... |
OMIM:220111 |
Mulibrey Nanism |
|
Thickened cortex of long bones |
OMIM:253250 |
Smith-Lemli-Opitz Syndrome |
|
Proximal placement of thumb, Short neck, Abnormal form of the vertebral bodies, Finger syndactyly... |
ORPHA:818 |
Robinow Syndrome |
|
Fused thoracic vertebrae, Syndactyly, Brachydactyly, Short stature, Small for gestational age, Ky... |
ORPHA:97360 |
Autosomal Dominant Centronuclear Myopathy |
|
Large for gestational age, Mildly elevated creatine kinase, Thin ribs |
ORPHA:169189 |
Pallister-Hall Syndrome |
|
Syndactyly, Mesoaxial foot polydactyly, Short stature, Toe syndactyly, Mesoaxial hand polydactyly... |
OMIM:146510 |
Cranioectodermal Dysplasia 2 |
|
Joint laxity, Syndactyly, Short stature, Rhizomelia, Craniosynostosis, Short neck, Pectus excavat... |
OMIM:613610 |
Vici Syndrome |
|
Lymphopenia, Elevated circulating creatine kinase concentration, Micrognathia, Postnatal growth r... |
OMIM:242840 |
Zttk Syndrome |
|
Short stature, Craniosynostosis, Kyphosis, Flexion contracture, Rib fusion, Small hand, Hemiverte... |
OMIM:617140 |
Schinzel-Giedion Syndrome |
|
Abnormal clavicle morphology, Sacrococcygeal teratoma, Overlapping fingers, Overlapping toe, Fail... |
ORPHA:798 |
Ciliary Dyskinesia, Primary, 1 |
|
Absent frontal sinuses, Asplenia, Male infertility |
OMIM:244400 |
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome |
|
Short humerus, Short metacarpal, Short stature, Thrombocytopenia, Reticulocytopenia, Rhizomelic a... |
ORPHA:508542 |
Pemphigus Erythematosus |
|
Focal dermal aplasia/hypoplasia, Localized skin lesion, Hypopigmented skin patches, Erythematous ... |
ORPHA:79480 |
Acute Liver Failure |
|
Hypoglycemia, Jaundice, Hepatitis, Hepatic necrosis, Hyperammonemia, Hepatocellular necrosis, Adr... |
ORPHA:90062 |
Wars2-Related Combined Oxidative Phosphorylation Defect |
|
Intrauterine growth retardation, Neonatal hypoglycemia, Positional foot deformity, Thrombocytopenia |
ORPHA:572798 |
Histiocytoid Cardiomyopathy |
|
Hepatomegaly, Failure to thrive, Hypoglycemia, Pulmonary edema |
ORPHA:137675 |
Tetraamelia Syndrome 1 |
|
Renal agenesis, Hypoplasia of the fallopian tube, Micrognathia, Asplenia, Absent external genital... |
OMIM:273395 |
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome |
|
Long clavicles, Arachnodactyly, Overlapping toe, Postnatal growth retardation, Contracture of the... |
ORPHA:83617 |
Cutis Marmorata Telangiectatica Congenita |
|
Aplasia/Hypoplasia of the skin, Blue nevus, Reduced bone mineral density, Multiple cafe-au-lait s... |
ORPHA:1556 |
Tooth Agenesis, Selective, 4 |
|
Thin skin |
OMIM:150400 |
Blue Rubber Bleb Nevus |
|
Pathologic fracture |
OMIM:112200 |
Short-Rib Thoracic Dysplasia 15 With Polydactyly |
|
Short stature, Postaxial polydactyly, Postaxial hand polydactyly, Aplasia of the epiglottis, Cone... |
OMIM:617088 |
Heterotaxy, Visceral, 1, X-Linked |
|
Absence of the sacrum, Hepatomegaly, Congenital hip dislocation, Renal agenesis, Block vertebrae,... |
OMIM:306955 |
Cerebral Visual Impairment |
|
Neonatal hypoglycemia |
ORPHA:447788 |
Monosomy 9P |
|
Proximal placement of thumb, Short neck, Abnormality of the tarsal bones, Postaxial hand polydact... |
ORPHA:261112 |
Charge Syndrome |
|
Short stature, Postnatal growth retardation, Abnormal tibia morphology, Abnormal rib morphology, ... |
ORPHA:138 |
Keutel Syndrome |
|
Recurrent respiratory infections, Pulmonary artery stenosis, Dermal atrophy, Recurrent sinusitis |
ORPHA:85202 |
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome |
|
Pleural effusion, Abnormality of the lymphatic system, Dermal atrophy |
ORPHA:69735 |
Myotubular Myopathy With Abnormal Genital Development |
|
Joint hypermobility, Thin ribs |
OMIM:300219 |
Lyme Disease |
|
Arthritis, Skin nodule, Dermal atrophy |
ORPHA:91546 |
3-Methylglutaconic Aciduria, Type Viii |
|
Jaundice, Growth delay, 3-Methylglutaric aciduria, 3-Methylglutaconic aciduria, Neutropenia, Fail... |
OMIM:617248 |
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form |
|
Osteopenia, Foot joint contracture, Flexion contracture, Osteoporosis, Anemia, Iron deficiency an... |
ORPHA:79408 |
Ablepharon-Macrostomia Syndrome |
|
Thin skin, Camptodactyly |
OMIM:200110 |
Acrofacial Dysostosis, Palagonia Type |
|
Aplasia/Hypoplasia of the skin, Dermal atrophy |
ORPHA:1787 |
Adams-Oliver Syndrome 5 |
|
Portal vein thrombosis, Splenomegaly, Hypersplenism, Cutis marmorata telangiectatica congenita, A... |
OMIM:616028 |
Pontine Tegmental Cap Dysplasia |
|
Failure to thrive, Rib fusion, Hemivertebrae, Scoliosis |
OMIM:614688 |
Spondyloocular Syndrome |
|
Osteopenia, Thin bony cortex |
OMIM:605822 |
Ectodermal Dysplasia With Natal Teeth, Turnpenny Type |
|
Cranial hyperostosis, Hypoplastic pilosebaceous units |
OMIM:601345 |
Hoyeraal-Hreidarsson Syndrome |
|
Abnormal leukocyte morphology, Anemia, Dermal atrophy, Bone marrow hypocellularity, Failure to th... |
ORPHA:3322 |
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome |
|
Sacral dimple, Tapered toe, Large for gestational age, Tapered finger, Rib fusion, Clinodactyly o... |
ORPHA:544488 |
Turner Syndrome Due To Structural X Chromosome Anomalies |
|
Osteopenia, Reduced bone mineral density, Glucose intolerance, Hepatic fibrosis, Hepatic steatosi... |
ORPHA:99413 |
Mosaic Monosomy X |
|
Osteopenia, Reduced bone mineral density, Glucose intolerance, Hepatic fibrosis, Hepatic steatosi... |
ORPHA:99228 |
Monosomy X |
|
Osteopenia, Reduced bone mineral density, Glucose intolerance, Hepatic fibrosis, Hepatic steatosi... |
ORPHA:99226 |
Turner Syndrome |
|
Osteopenia, Reduced bone mineral density, Glucose intolerance, Hepatic fibrosis, Hepatic steatosi... |
ORPHA:881 |
Severe Generalized Junctional Epidermolysis Bullosa |
|
Failure to thrive, Pneumonia, Skin erosion, Pneumothorax, Osteoporosis, Abnormal blood ion concen... |
ORPHA:79404 |
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome |
|
Joint laxity, Pes planus, Arachnodactyly, Large for gestational age, Limitation of joint mobility... |
ORPHA:457359 |
Dermatomyositis |
|
Recurrent respiratory infections, Aplasia/Hypoplasia of the skin, Abnormal eosinophil morphology,... |
ORPHA:221 |
Faciocardiomelic Syndrome |
|
Osteopenia, Thin bony cortex |
OMIM:612731 |
Feingold Syndrome 1 |
|
Accessory spleen, Micrognathia, Asplenia, Short thumb, Short toe, 4-5 toe syndactyly, 2-3 toe syn... |
OMIM:164280 |
Wiskott-Aldrich Syndrome |
|
Hemolytic anemia, Glomerulopathy, Abnormal eosinophil morphology, Microcytic anemia, Abnormality ... |
ORPHA:906 |
Glutaryl-Coa Dehydrogenase Deficiency |
|
Glutaric aciduria, Chronic kidney disease, Fasting hypoglycemia |
ORPHA:25 |
Renal Agenesis, Bilateral |
|
Nonketotic hypoglycemia, Pulmonary hypoplasia |
ORPHA:1848 |
Immunodeficiency 55 |
|
Absent natural killer cells, Short stature, Postnatal growth retardation, Lymphadenopathy, Neutro... |
OMIM:617827 |
Acute Radiation Syndrome |
|
Skin ulcer, Interstitial pneumonitis, Dermal atrophy, Granulocytopenia, Lymphopenia, Thrombocytop... |
ORPHA:454831 |
Coccidioidomycosis |
|
Osteomyelitis, Osteolysis, Abnormal long bone morphology, Arthritis, Abnormality of the vertebral... |
ORPHA:228123 |
1P36 Deletion Syndrome |
|
11 pairs of ribs, Short stature, Camptodactyly of finger, Joint stiffness, Kyphosis, Rib fusion, ... |
ORPHA:1606 |
Congenital Alveolar Capillary Dysplasia |
|
Asplenia, Absent gallbladder, Annular pancreas, Hydronephrosis |
ORPHA:210122 |
Fryns Syndrome |
|
Rocker bottom foot, Proximal placement of thumb, Large for gestational age, Short neck, Short thu... |
OMIM:229850 |
Mucopolysaccharidosis Type 2, Severe Form |
|
Thickened ribs, Short stature, Camptodactyly of finger, Flexion contracture, Limitation of joint ... |
ORPHA:217085 |
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities |
|
Joint laxity, Small scrotum, Sandal gap, Long fingers, Cutaneous syndactyly, Hypocalcemia, Toe cl... |
OMIM:620330 |
Malignant Atrophic Papulosis |
|
Peritonitis, Weight loss, Dermal atrophy, Pleural effusion, Papule |
ORPHA:679 |
Thoracic Outlet Syndrome |
|
Abnormal rib morphology |
ORPHA:97330 |
Mucopolysaccharidosis Type 2, Attenuated Form |
|
Thickened ribs, Short stature, Camptodactyly of finger, Flexion contracture, Limitation of joint ... |
ORPHA:217093 |
Reynolds Syndrome |
|
Calcinosis, Hepatomegaly, Splenomegaly, Jaundice, Biliary cirrhosis, Cholestasis, Hyperbilirubine... |
OMIM:613471 |
Encephalocraniocutaneous Lipomatosis |
|
Craniofacial hyperostosis, Abnormal cartilage morphology, Bone cyst, Osteolysis, Osteochondrosis |
ORPHA:2396 |
Restrictive Dermopathy |
|
Osteopenia, Thoracic kyphoscoliosis, Aplasia/Hypoplasia of the clavicles, Multiple joint contract... |
ORPHA:1662 |
Mowat-Wilson Syndrome Due To Monosomy 2Q22 |
|
Bifid scrotum, Urinary incontinence, Asplenia, Calcaneovalgus deformity, Flexion contracture, Ves... |
ORPHA:261537 |
Mowat-Wilson Syndrome |
|
Bifid scrotum, Urinary incontinence, Asplenia, Calcaneovalgus deformity, Flexion contracture, Ves... |
ORPHA:2152 |
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency |
|
Impaired lymphocyte transformation with phytohemagglutinin, Absent natural killer cells, Failure ... |
ORPHA:35078 |
Atelis Syndrome 2 |
|
Sacral dimple, Elevated circulating thyroid-stimulating hormone concentration, Hyperinsulinemia, ... |
OMIM:620185 |
Hutchinson-Gilford Progeria Syndrome |
|
Limitation of movement at ankles, Female hypogonadism, Hypermelanotic macule, Decreased serum lep... |
ORPHA:740 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative |
|
Impaired lymphocyte transformation with phytohemagglutinin, Lymphopenia, Absent natural killer ce... |
OMIM:600802 |
Primary Sjögren Syndrome |
|
Normocytic anemia, Renal insufficiency, Vaginal dryness, Parotitis, Glomerulonephritis, Abnormali... |
ORPHA:289390 |
Cockayne Syndrome B |
|
Hepatomegaly, Small for gestational age, Splenomegaly, Limitation of joint mobility, Osteoporosis... |
OMIM:133540 |
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome |
|
Lumbar hyperlordosis, Arachnodactyly, Failure to thrive in infancy, Proportionate short stature, ... |
ORPHA:500150 |
Townes-Brocks Syndrome |
|
Broad hallux phalanx, Toe clinodactyly, Toe syndactyly, Short stature, Preaxial hand polydactyly,... |
ORPHA:857 |
Kindler Epidermolysis Bullosa |
|
Finger syndactyly, Camptodactyly of finger, Flexion contracture, Abnormal rib morphology, Short 4... |
ORPHA:2908 |
Right Atrial Isomerism |
|
Asplenia, Abdominal situs ambiguus, Polysplenia |
OMIM:208530 |
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins |
|
Hydroureter, Hypospadias, Micrognathia, Asplenia, Dilatation of the renal pelvis, Pulmonary lymph... |
OMIM:265380 |
Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Pleural effusion, Neonatal hypoglycemia, Pulmonary edema |
OMIM:261740 |
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency |
|
Abnormality of the pancreas, Reduced bone mineral density, Long fibula, Abnormal metaphysis morph... |
ORPHA:935 |
Pallister-Hall Syndrome |
|
Large for gestational age, Hemivertebrae, Mesoaxial polydactyly, Radial bowing, Short stature, Ri... |
ORPHA:672 |
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
|
Bifid scrotum, Urinary incontinence, Asplenia, Calcaneovalgus deformity, Flexion contracture, Ves... |
ORPHA:261552 |
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy |
|
Asplenia, Toe syndactyly, Short stature |
OMIM:619657 |
Barber-Say Syndrome |
|
Failure to thrive, Aplasia/Hypoplasia of the skin |
ORPHA:1231 |
Rothmund-Thomson Syndrome, Type 2 |
|
Small for gestational age, Osteoporosis, Hypogonadism, Dermal atrophy, Annular pancreas |
OMIM:268400 |
Homozygous Familial Hypercholesterolemia |
|
Hyperlipidemia, Renal steatosis, Increased LDL cholesterol concentration, Renal artery stenosis, ... |
ORPHA:391665 |
Leukocyte Adhesion Deficiency |
|
Acute myeloid leukemia, Osteomyelitis, Lymphocytic interstitial pneumonia, Pneumonia, Impaired ne... |
ORPHA:2968 |
Dextrocardia |
|
Congenital hip dislocation, Abnormal rib morphology |
ORPHA:1666 |
Heterotaxy, Visceral, 5, Autosomal |
|
Ureteral duplication, Absence of the sacrum, Ureteral stenosis, Asplenia, Renal hypoplasia, Abdom... |
OMIM:270100 |
Aspartylglucosaminuria |
|
Arthritis, Abnormal cortical bone morphology, Joint stiffness |
ORPHA:93 |
Chromosome 1P36 Deletion Syndrome, Distal |
|
11 pairs of ribs, Camptodactyly of finger, Metatarsus adductus, Wide anterior fontanel, Delayed s... |
OMIM:607872 |
Xeroderma Pigmentosum, Complementation Group A |
|
Dermal atrophy, Erythematous papule, Hypermelanotic macule, Verrucous epidermal nevus |
OMIM:278700 |
Heterotaxy, Visceral, 2, Autosomal |
|
Asplenia, Abdominal situs inversus, Polysplenia |
OMIM:605376 |
Holoprosencephaly 1 |
|
Short stature, Hypoglycemia, Adrenal hypoplasia, Micropenis, Diabetes insipidus |
OMIM:236100 |
Toriello-Lacassie-Droste Syndrome |
|
Failure to thrive, Aplasia/Hypoplasia of the skin |
ORPHA:3339 |
Linear Skin Defects With Multiple Congenital Anomalies 3 |
|
Asymmetric, linear skin defects, Failure to thrive, Thyroid C cell hyperplasia |
OMIM:300952 |
Pseudo-Torch Syndrome 2 |
|
Thin ribs |
OMIM:617397 |
Dyskeratosis Congenita, X-Linked |
|
Acute myeloid leukemia, Pancytopenia, Thrombocytopenia, Osteoporosis, Leukopenia, Dermal atrophy,... |
OMIM:305000 |
Eec Syndrome |
|
Aplasia/Hypoplasia of the skin, Decreased response to growth hormone stimulation test, Hypoplasia... |
ORPHA:1896 |
Alström Syndrome |
|
Decreased response to growth hormone stimulation test, Elevated circulating thyroid-stimulating h... |
ORPHA:64 |
Microphthalmia With Linear Skin Defects Syndrome |
|
Sacral dimple, Aplasia/Hypoplasia of the skin, Hypopigmented skin patches, Dermal atrophy, Failur... |
ORPHA:2556 |
Pagod Syndrome |
|
Abnormal clavicle morphology, Abnormal rib morphology, Short stature |
ORPHA:991 |
Branchiooculofacial Syndrome |
|
Preauricular pit, Lower lip pit, Elbow flexion contracture, Dermoid cyst, Postauricular pit, Atyp... |
OMIM:113620 |
Kindler Syndrome |
|
Dermal atrophy, Spotty hypopigmentation, Diffuse skin atrophy |
OMIM:173650 |
17Q11 Microdeletion Syndrome |
|
Osteopenia, Thickened cortex of long bones, Osteolysis, Osteoporosis |
ORPHA:97685 |
Tumoral Calcinosis, Hyperphosphatemic, Familial, 2 |
|
Radial bowing |
OMIM:617993 |