Hypoplastic Femurs And Pelvis |
|
Short femur, Hypoplastic pelvis |
OMIM:619545 |
Coxa Vara |
|
Coxa vara |
OMIM:122750 |
Metaphyseal Anadysplasia 2 |
|
Metaphyseal widening, Bowing of the legs, Metaphyseal irregularity, Short femoral neck |
OMIM:613073 |
Hypoparathyroidism, Familial Isolated, 2 |
|
Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures |
OMIM:618883 |
Blount Disease, Infantile |
|
Abnormality of the proximal tibial epiphysis, Genu varum |
OMIM:188700 |
Upington Disease |
|
Flat capital femoral epiphysis, Arthralgia of the hip, Broad femoral neck, Premature epimetaphyse... |
ORPHA:3408 |
Rhizomelic Dysplasia, Ain-Naz Type |
|
Short femoral neck, Hypoplasia of the femoral head, Wide distal femoral metaphysis, Rhizomelia, S... |
OMIM:619598 |
Upington Disease |
|
Arthralgia of the hip, Broad femoral neck, Flattened femoral head |
OMIM:191520 |
Syndactyly Type 4 |
|
Toe syndactyly, 6 metacarpals, Foot polydactyly, Triphalangeal thumb, Hand polydactyly, 1-5 finge... |
ORPHA:93405 |
Pseudohypoparathyroidism, Type Ii |
|
Hypocalcemia, Hyperphosphatemia |
OMIM:203330 |
Rhizomelic Chondrodysplasia Punctata, Type 3 |
|
Rhizomelia, Epiphyseal stippling, Short femur, Short humerus |
OMIM:600121 |
Tibia, Hypoplasia Or Aplasia Of, With Polydactyly |
|
Absent tibia, Triphalangeal thumb, Preaxial polydactyly, Short tibia, Fibular duplication |
OMIM:188740 |
Mesomelic Dwarfism Of Hypoplastic Tibia And Radius Type |
|
Hypoplasia of the radius, Pseudoarthrosis, Short tibia |
OMIM:156230 |
Tibial Torsion, Bilateral Medial |
|
Tibial torsion, Bowing of the legs, Abnormality of tibia morphology |
OMIM:188800 |
Gollop-Wolfgang Complex |
|
Bifid femur, Ectrodactyly, Aplasia/Hypoplasia of the tibia, Aplasia/Hypoplasia of the ulna, Hand ... |
ORPHA:1986 |
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome |
|
Hand oligodactyly, Tibial bowing, Foot oligodactyly, Fibular aplasia, Short tibia, Syndactyly |
OMIM:246570 |
Osteodysplasty, Precocious, Of Danks, Mayne, And Kozlowski |
|
Abnormality of long bone morphology, Abnormality of pelvic girdle bone morphology, Short finger, ... |
OMIM:259270 |
Acromesomelic Dysplasia 2C |
|
Acromesomelia, Hypoplasia of the ulna, Shortening of all middle phalanges of the fingers, Fibular... |
OMIM:201250 |
Acrocapitofemoral Dysplasia |
|
Small finger, Genu varum, Cupped ribs, Delayed ossification of carpal bones, Cone-shaped metacarp... |
OMIM:607778 |
Acromesomelic Dysplasia 2A |
|
Acromesomelia, Pes valgus, Valgus hand deformity, Hypoplasia of the ulna, Fibular hypoplasia, Sho... |
OMIM:200700 |
Adamantinoma |
|
Hypercalcemia |
ORPHA:55881 |
Chondrodysplasia Punctata, Tibia-Metacarpal Type |
|
Short 4th metacarpal, Epiphyseal stippling, Micromelia, Limb undergrowth, Short tibia, Short long... |
OMIM:118651 |
Ulna Metaphyseal Dysplasia Syndrome |
|
Hypercalcemia |
OMIM:191420 |
Osteopathia Striata-Pigmentary Dermopathy-White Forelock Syndrome |
|
Abnormality of pelvic girdle bone morphology, Osteopathia striata, Abnormality of the metaphysis,... |
ORPHA:2779 |
Hyperinsulinemic Hypoglycemia, Familial, 7 |
|
Hypoglycemic seizures, Hypoglycemia, Hyperinsulinemia, Pancreatic islet-cell hyperplasia, Hyperin... |
OMIM:610021 |
Diastrophic Dysplasia |
|
Irregular epiphyses, Flattened epiphysis, Cervical kyphosis, Neonatal short-limb short stature, D... |
OMIM:222600 |
Coxopodopatellar Syndrome |
|
Abnormality of pelvic girdle bone morphology, Abnormality of epiphysis morphology, Abnormality of... |
ORPHA:1509 |
Metatropic Dysplasia |
|
Cupped ribs, Flared humeral metaphysis, Abnormal metaphyseal vascular invasion, Flared femoral me... |
OMIM:156530 |
Blue Diaper Syndrome |
|
Abnormal circulating tryptophan concentration, Nephrocalcinosis, Hypercalcemia |
OMIM:211000 |
Pseudoachondroplasia |
|
Genu varum, Flared femoral metaphysis, Scoliosis, Irregular carpal bones, Metaphyseal widening, F... |
OMIM:177170 |
Dyggve-Melchior-Clausen Disease |
|
Abnormality of the vertebral column, Abnormal hip bone morphology, Abnormal pelvis bone morpholog... |
ORPHA:239 |
Hypercalcemia, Infantile, 2 |
|
Nephrocalcinosis, Hypercalcemia, Hypercalciuria, Polyuria, Medullary nephrocalcinosis, Hypophosph... |
OMIM:616963 |
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis |
|
Coronal cleft vertebrae, Pes planus, Micrognathia, Disproportionate short stature, Scoliosis, Gen... |
OMIM:618363 |
Hyperparathyroidism 1 |
|
Hypercalcemia |
OMIM:145000 |
Atrial Fibrillation, Familial, 18 |
|
Palpitations, Bradycardia, Paroxysmal atrial fibrillation, Permanent atrial fibrillation |
OMIM:617280 |
Chromosome 17Q23.1-Q23.2 Duplication Syndrome |
|
Coxa valga, Talipes equinovarus, Genu valgum, Hip dysplasia, Acetabular dysplasia |
OMIM:613618 |
Autosomal Dominant Brachyolmia |
|
Short thorax, Increased vertebral height, Platyspondyly, Short stature, Abnormality of the metaph... |
ORPHA:93304 |
Pseudohypoparathyroidism Type 2 |
|
Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures, Hypocalcemic tetany |
ORPHA:94090 |
Langer Mesomelic Dysplasia |
|
Rudimentary fibula, Hypoplasia of the ulna, Short femoral neck, Hypoplasia of the radius, Microgn... |
OMIM:249700 |
Mesomelic Dysplasia, Savarirayan Type |
|
Dislocated radial head, Abnormal foot morphology, Fibular aplasia, Talipes equinovalgus, Short ti... |
OMIM:605274 |
Ischiocoxopodopatellar Syndrome With Or Without Pulmonary Arterial Hypertension |
|
Flat capital femoral epiphysis, Wide capital femoral epiphyses, Patellar hypoplasia, Pes planus, ... |
OMIM:147891 |
Blount Disease, Adolescent |
|
Genu varum, Bowing of the legs |
OMIM:259200 |
Hypocalcemia, Autosomal Dominant 1 |
|
Hypokalemia, Nephrocalcinosis, Nephrolithiasis, Increased circulating renin level, Hypercalciuria... |
OMIM:601198 |
Multiple Epiphyseal Dysplasia With Robin Phenotype |
|
Fibular hypoplasia, Micrognathia, Scoliosis, Genu valgum, Brachydactyly, Flat capital femoral epi... |
OMIM:601560 |
Osebold-Remondini Syndrome |
|
Broad toe, Carpal synostosis, Hypoplasia of the ulna, Bipartite calcaneus, Fibular hypoplasia, Ty... |
OMIM:112910 |
Acromesomelic Dysplasia, Grebe Type |
|
Brachydactyly, Bowing of the long bones, Synostosis of carpal bones, Fibular hypoplasia, Aplasia/... |
ORPHA:2098 |
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis |
|
Glycosuria, Nephrocalcinosis, Hyposthenuria, Proximal tubulopathy, Hypercalciuria, Beta 2-microgl... |
OMIM:308990 |
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland |
|
Hypomagnesemia, Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures |
ORPHA:2239 |
Blount Disease |
|
Abnormality of the proximal tibial epiphysis, Tibial bowing, Abnormality of the knee, Abnormality... |
ORPHA:2768 |
Emphysema, Hereditary Pulmonary |
|
Emphysema, Chronic pulmonary obstruction, Chronic bronchitis |
OMIM:130700 |
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy |
|
Hypoglycemic seizures, Neonatal hypoglycemia, Nonketotic hypoglycemia, Increased hepatic glycogen... |
ORPHA:293964 |
Beukes Hip Dysplasia |
|
Flat capital femoral epiphysis, Shallow acetabular fossae, Irregular capital femoral epiphysis, B... |
OMIM:142669 |
Short Stature Due To Ghsr Deficiency |
|
Decreased body weight, Hypoglycemia, Abnormality of body weight, Growth delay, Short stature, Dec... |
ORPHA:314811 |
Hyperinsulinemic Hypoglycemia, Familial, 2 |
|
Hypoglycemia, Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia |
OMIM:601820 |
Hypoparathyroidism, Familial Isolated, 1 |
|
Hypocalcemia, Hyperphosphatemia |
OMIM:146200 |
Epiphyseal Dysplasia, Multiple, With Severe Proximal Femoral Dysplasia |
|
Short femoral neck, Flared femoral metaphysis, Broad femoral neck, Proximal femoral metaphyseal i... |
OMIM:609324 |
Acheiropody |
|
Aplasia of the phalanges of the hand, Absent radius, Peromelia, Aplasia of the tarsal bones, Abse... |
OMIM:200500 |
Hemochromatosis, Type 1 |
|
Increased circulating ferritin concentration, Hypogonadotropic hypogonadism, Amenorrhea, Arrhythm... |
OMIM:235200 |
Brachyolmia Type 1, Toledo Type |
|
Broad tibial metaphyses, Precocious costochondral ossification, Short neck, Short femoral neck, I... |
OMIM:271630 |
Fibrochondrogenesis |
|
Brachydactyly, Hearing abnormality, Short neck, Abnormal form of the vertebral bodies, Low-set ea... |
ORPHA:2021 |
Mucopolysaccharidosis Type 6 |
|
Sinusitis, Recurrent upper respiratory tract infections, Short neck, Ovoid vertebral bodies, Kyph... |
ORPHA:583 |
Bronchopulmonary Dysplasia |
|
Emphysema, Abnormal respiratory system physiology, Respiratory failure requiring assisted ventila... |
ORPHA:70589 |
Retinal Dysplasia, Primary |
|
Retinal dysplasia, Falciform retinal fold |
OMIM:312550 |
Dysosteosclerosis |
|
Narrow iliac wing, Absent paranasal sinuses, Hypoplastic vertebral bodies, Sclerosis of hand bone... |
OMIM:224300 |
Spondylometaphyseal Dysplasia, Corner Fracture Type |
|
Genu varum, Metaphyseal irregularity, Ovoid vertebral bodies, Short femoral neck, Hypoplasia of t... |
OMIM:184255 |
Tibial Aplasia-Ectrodactyly Syndrome |
|
Brachydactyly, Finger syndactyly, Fibular hypoplasia, Split hand, Abnormality of fibula morpholog... |
ORPHA:3329 |
Renal Tubular Acidosis, Distal, With Nephrocalcinosis, Short Stature, Mental Retardation, And Distinctive Facies |
|
Reduced renal corticomedullary differentiation, Beta 2-microglobulinuria, Proteinuria, Renal hypo... |
OMIM:611555 |
Alpha-1-Antitrypsin Deficiency |
|
Chronic bronchitis, Dyspnea, Chronic pulmonary obstruction, Cirrhosis, Panacinar emphysema, Wheez... |
OMIM:613490 |
Idiopathic Bronchiectasis |
|
Emphysema, Abnormal respiratory system physiology, Reduced FEV1/FVC ratio, Crackles, Myocardial i... |
ORPHA:60033 |
Chondrodysplasia, Lethal, With Long Bone Angulation And Mixed Bone Density |
|
Hypoplasia of the ulna, Fibular hypoplasia, Hypoplasia of the radius, Lytic defects of humeral di... |
OMIM:601376 |
Gaucher Disease |
|
Pancytopenia, Cherry red spot of the macula, Abnormal pericardium morphology, Anemia, Hepatitis, ... |
ORPHA:355 |
Epilepsy, Idiopathic Generalized, Susceptibility To, 18 |
|
Bradycardia |
OMIM:619521 |
Rhizomelic Dysplasia, Scoliosis, And Retinitis Pigmentosa |
|
Prominent deltoid tuberosities, Short neck, Short femoral neck, Rhizomelia, Short ribs, Scoliosis... |
OMIM:610319 |
Alopecia Areata 2 |
|
Patchy alopecia, Alopecia of scalp, Alopecia totalis, Alopecia universalis |
OMIM:610753 |
Spondylometaphyseal Dysplasia, Schmidt Type |
|
Abnormality of the vertebral column, Abnormal ilium morphology, Severe short stature, Disproporti... |
ORPHA:93316 |
Lethal Faciocardiomelic Dysplasia |
|
Hypoplasia of the ulna, Fibular hypoplasia, Radial club hand, Sandal gap, Short 5th finger, Hypop... |
ORPHA:1972 |
Gaucher Disease Type 3 |
|
Abnormal myocardium morphology, Pancytopenia, Abnormal heart valve morphology, Increased bone min... |
ORPHA:77261 |
Dent Disease 2 |
|
Nephrocalcinosis, Proximal tubulopathy, Hypercalciuria, Chronic kidney disease, Low-molecular-wei... |
OMIM:300555 |
Hypotrichosis 4 |
|
Pili torti, Sparse eyebrow, Sparse body hair, Sparse eyelashes, Alopecia, Sparse hair |
OMIM:146550 |
Pseudohypoparathyroidism, Type Ib |
|
Hypocalcemia, Hyperphosphatemia |
OMIM:603233 |
Paget Disease Of Bone 5, Juvenile-Onset |
|
Macular scar, Osteoporosis, Bowing of the long bones, Increased bone mineral density, Hypercalciu... |
OMIM:239000 |
Epiphyseal Dysplasia, Multiple, 5 |
|
Irregular epiphyses, Metaphyseal irregularity, Delayed ossification of carpal bones, Short femora... |
OMIM:607078 |
Epiphyseal Dysplasia, Multiple, 7 |
|
Advanced ossification of carpal bones, Genu varum, Short femoral neck, Hypoplasia of the capital ... |
OMIM:617719 |
Vitamin D-Dependent Rickets, Type 3 |
|
Genu varum, Bowing of the legs, Osteopenia, Hypocalcemia, Growth delay, Metaphyseal cupping, Flar... |
OMIM:619073 |
Pulmonary Alveolar Microlithiasis |
|
Hypoxemia, Tachypnea, Increased pulmonary vascular resistance, Bronchitis, Respiratory tract infe... |
ORPHA:60025 |
Hypotrichosis Simplex |
|
Sparse eyebrow, Sparse body hair, Alopecia, Sparse eyelashes, Sparse scalp hair, Sparse hair |
ORPHA:55654 |
Blue Diaper Syndrome |
|
Nephrocalcinosis, Hyperphosphatemia, Hypercalcemia, Blue urine |
ORPHA:94086 |
Fibula, Recurrent Dislocation Of Head Of |
|
Abnormality of fibula morphology |
OMIM:135800 |
Mucopolysaccharidosis, Type Vi |
|
Disproportionate short-trunk short stature, Macroglossia, Inguinal hernia, Hypoplastic iliac wing... |
OMIM:253200 |
Granulomatous Slack Skin |
|
Nephrocalcinosis, Hypercalcemia, Acute kidney injury |
ORPHA:33111 |
Spondylometaphyseal Dysplasia, Kozlowski Type |
|
Delayed ossification of carpal bones, Disproportionate short-trunk short stature, Scoliosis, Abno... |
OMIM:184252 |
Myotonia With Skeletal Abnormalities And Mental Retardation |
|
Firm muscles, Vertebral wedging, Irregular femoral epiphysis, Short stature, Skeletal muscle hype... |
OMIM:255710 |
Pseudohypoparathyroidism Type 1C |
|
Decreased response to growth hormone stimulation test, Oligomenorrhea, Pseudohypoparathyroidism, ... |
ORPHA:79444 |
Hyperinsulinism Due To Insr Deficiency |
|
Hypoglycemia, Insulin resistance, Recurrent hypoglycemia, Fasting hyperinsulinemia, Hyperinsuline... |
ORPHA:263458 |
Craniometadiaphyseal Dysplasia, Wormian Bone Type |
|
Osteopenia, Increased bone mineral density, Coxa valga, Abnormal foot morphology, Broad femoral n... |
ORPHA:85184 |
Leri-Weill Dyschondrosteosis |
|
Dorsal subluxation of ulna, Hypoplasia of the ulna, Coxa valga, Abnormal femoral neck morphology,... |
OMIM:127300 |
Generalized Arterial Calcification Of Infancy |
|
Cortical nephrocalcinosis, Hypophosphatemic rickets, Osteomalacia, Stippled calcification of the ... |
ORPHA:51608 |
Hypocalcemia, Autosomal Dominant 2 |
|
Hypocalcemia |
OMIM:615361 |
Craniometadiaphyseal Dysplasia |
|
Genu varum, Absent paranasal sinuses, Coxa valga, Osteopenia, Low-set ears, Sclerosis of skull ba... |
OMIM:269300 |
Sinoatrial Node Dysfunction And Deafness |
|
Bradycardia |
OMIM:614896 |
Atypical Werner Syndrome |
|
Glycosuria, Sclerosis of hand bone, Osteoporosis, Coronary artery atherosclerosis, Telangiectasia... |
ORPHA:79474 |
Hypomagnesemia 1, Intestinal |
|
Hypocalcemia, Hypomagnesemia |
OMIM:602014 |
Parathyroid Carcinoma |
|
Hypercalcemia |
OMIM:608266 |
Pituitary Hormone Deficiency, Combined, 4 |
|
Adrenal insufficiency, Hypothyroidism, Hypoglycemia, Severe postnatal growth retardation, Pituita... |
OMIM:262700 |
Femoral-Facial Syndrome |
|
Abnormal rib morphology, Micrognathia, Polycystic kidney dysplasia, Inguinal hernia, Scoliosis, H... |
ORPHA:1988 |
Tibia, Absence Of, With Congenital Deafness |
|
Absent tibia |
OMIM:275230 |
Hypotrichosis 5 |
|
Absent pubic hair, Thin eyebrow, Sparse eyelashes, Alopecia, Absent axillary hair |
OMIM:612841 |
Laurin-Sandrow Syndrome |
|
Absent radius, Absent tibia, Triphalangeal thumb, Hand polydactyly, Broad foot, Fibular duplicati... |
OMIM:135750 |
Alopecia Areata 1 |
|
Patchy alopecia, Trachyonychia, Nail pits, Alopecia universalis, Alopecia totalis |
OMIM:104000 |
Dyschondrosteosis And Nephritis |
|
Ulnar bowing, Radial bowing, Short tibia, Short forearm |
OMIM:127350 |
Kniest-Like Dysplasia, Lethal |
|
Brachydactyly, Coronal cleft vertebrae, Metaphyseal irregularity, Short neck, Hypoplastic vertebr... |
OMIM:245190 |
Tibial Hemimelia |
|
Absent tibia |
OMIM:275220 |
Femur, Unilateral Bifid, With Monodactylous Ectrodactyly |
|
Absent tibia, Foot monodactyly, Bifid femur, Aplasia of the ulna, Split hand, Hand monodactyly |
OMIM:228250 |
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome) |
|
Hypocalcemia |
DECIPHER:16 |
Nephrolithiasis, X-Linked Recessive, With Renal Failure |
|
Nephrocalcinosis, Glomerular sclerosis, Nephrolithiasis, Proximal tubulopathy, Hypercalciuria, Ch... |
OMIM:310468 |
Symptomatic Form Of Hemochromatosis Type 1 |
|
Infertility, Hypothyroidism, Erectile dysfunction, Osteoporosis, Abnormality of iron homeostasis,... |
ORPHA:465508 |
Tibial Hemimelia-Polysyndactyly-Triphalangeal Thumb Syndrome |
|
Synostosis of carpal bones, Aplasia/Hypoplasia of the thumb, Abnormality of fibula morphology, Ap... |
ORPHA:988 |
Language Delay And Attention Deficit-Hyperactivity Disorder/Cognitive Impairment With Or Without Cardiac Arrhythmia |
|
Bradycardia, Arrhythmia, Sick sinus syndrome |
OMIM:617182 |
Gm1 Gangliosidosis Type 1 |
|
Cherry red spot of the macula, Hypoplastic vertebral bodies, Urinary glycosaminoglycan excretion,... |
ORPHA:79255 |
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency |
|
Fasting hypoglycemia, Obesity, Increased circulating T4 level, Decreased circulating free T3, Gro... |
ORPHA:171706 |
Spondylometaphyseal Dysplasia, East African Type |
|
Brachydactyly, Genu varum, Ovoid vertebral bodies, Metaphyseal spurs, Disproportionate short stat... |
OMIM:611702 |
Léri-Weill Dyschondrosteosis |
|
Abnormal hip bone morphology, Genu varum, Abnormality of the ulna, Clinodactyly of the 5th finger... |
ORPHA:240 |
Aphalangia, Partial, With Syndactyly And Duplication Of Metatarsal Iv |
|
Aplasia/Hypoplasia of toe, Short stature, Kyphoscoliosis, Cutaneous finger syndactyly, Duplicatio... |
OMIM:600384 |
Lmna-Related Cardiocutaneous Progeria Syndrome |
|
Emphysema, Mitral regurgitation, Pulmonary carcinoid tumor, Aortic root aneurysm, Congestive hear... |
ORPHA:363618 |
Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development |
|
Absent thumb, Hypoplasia of the ulna, Fibular hypoplasia, Short tibia, Short femur, Aplasia/Hypop... |
OMIM:612447 |
Pseudohypoparathyroidism Type 1A |
|
Hypertension, Decreased response to growth hormone stimulation test, Oligomenorrhea, Pseudohypopa... |
ORPHA:79443 |
Ventricular Tachycardia, Catecholaminergic Polymorphic, 2 |
|
Bradycardia, Syncope, Ventricular tachycardia |
OMIM:611938 |
Short Stature Due To Partial Ghr Deficiency |
|
Hypoglycemia, Decreased serum insulin-like growth factor 1, Delayed puberty |
ORPHA:314802 |
Osteofibrous Dysplasia, Susceptibility To |
|
Pseudoarthrosis, Fibular hypoplasia |
OMIM:607278 |
Mucopolysaccharidosis, Type X |
|
Posterior scalloping of vertebral bodies, Left ventricular hypertrophy, Spatulate ribs, Irregular... |
OMIM:619698 |
Mucolipidosis Iii Alpha/Beta |
|
Craniosynostosis, Shallow acetabular fossae, Short long bone, Short ribs, Increased serum beta-he... |
OMIM:252600 |
Spondyloepimetaphyseal Dysplasia, Isidor-Toutain Type |
|
Genu varum, Severe short stature, Platyspondyly, Irregular femoral epiphysis, Scoliosis, Postnata... |
OMIM:618728 |
Oculocerebrodental Syndrome |
|
Clinodactyly, Abnormality of the frontal hairline, Thoracic kyphosis, Nephrocalcinosis, Hypercalc... |
ORPHA:557003 |
Congenital Disorder Of Glycosylation, Type Iik |
|
Amelogenesis imperfecta, Low-set ears, Joint laxity, Osteoporosis, Growth delay, Elevated circula... |
OMIM:614727 |
Spondylometaphyseal Dysplasia, Type A4 |
|
Metaphyseal sclerosis, Severe short stature, Irregular patellae, Osteoporotic metatarsal, Metaphy... |
OMIM:609052 |
Fibular Hemimelia |
|
Fibular hypoplasia, Limited knee flexion/extension, Short tibia, Increased laxity of ankles, Shor... |
ORPHA:93323 |
Allergic Bronchopulmonary Aspergillosis |
|
Emphysema, Asthma, Cough, Bronchiectasis, Pulmonary arterial hypertension, Respiratory insufficie... |
ORPHA:1164 |
Brachyolmia Type 1, Hobaek Type |
|
Kyphosis, Short neck, Osteopenia, Intervertebral space narrowing, Short femoral neck, Disproporti... |
OMIM:271530 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 4 |
|
Hepatic steatosis, Elevated circulating alanine aminotransferase concentration, Hypoglycemia, Int... |
OMIM:619048 |
Long Qt Syndrome 15 |
|
Ventricular fibrillation, Cardiac arrest, Prolonged QT interval, Bradycardia, Prolonged QTc interval |
OMIM:616249 |
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome |
|
Emphysema, Nonproductive cough, Hypersensitivity pneumonitis, Restrictive ventilatory defect, Red... |
ORPHA:79127 |
Isolated Growth Hormone Deficiency, Type Ia |
|
Decreased response to growth hormone stimulation test, Hypoglycemia, Impaired growth-hormone resp... |
OMIM:262400 |
Mesomelic Dysplasia, Savarirayan Type |
|
Flared radial metaphysis, Narrow iliac wing, Broad tibial metaphyses, Hypoplasia of proximal radi... |
ORPHA:85170 |
Epiphyseal Dysplasia, Multiple, 4 |
|
Brachydactyly, Flat capital femoral epiphysis, Hypoplasia of the femoral head, Short metacarpal, ... |
OMIM:226900 |
Rothmund-Thomson Syndrome, Type 1 |
|
Hypothyroidism, Absent eyelashes, Osteoporosis, Absent eyebrow, Hyperkeratosis, Nail dystrophy, S... |
OMIM:618625 |
Metaphyseal Chondrodysplasia, Schmid Type |
|
Genu varum, Proximal femoral metaphyseal irregularity, Hip dysplasia, Bowing of the legs, Widened... |
ORPHA:174 |
Familial Short Qt Syndrome |
|
Ventricular fibrillation, Sudden cardiac death, Palpitations, Ventricular arrhythmia, Syncope, At... |
ORPHA:51083 |
Isolated Follicle Stimulating Hormone Deficiency |
|
Gonadotropin deficiency, Abnormal sperm morphology, Hypogonadotropic hypogonadism, Female hypogon... |
ORPHA:52901 |
Hutchinson-Gilford Progeria Syndrome |
|
Left ventricular systolic dysfunction, Abnormal mitral valve morphology, Abnormal aortic valve mo... |
ORPHA:740 |
3-Hydroxy-3-Methylglutaryl-Coa Synthase Deficiency |
|
Hypoglycemia |
ORPHA:35701 |
Alopecia Universalis |
|
Absent eyelashes, Alopecia universalis, Patchy alopecia, Absent eyebrow |
ORPHA:701 |
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome |
|
Hypogonadotropic hypogonadism, Dysmetria, Hypoglycemia, Intrauterine growth retardation, Kyphosis... |
ORPHA:48431 |
Hypotrichosis 11 |
|
Aplasia/Hypoplasia of the eyebrow, Sparse or absent eyelashes, Alopecia universalis, Absent axill... |
OMIM:615059 |
Familial Isolated Hyperparathyroidism |
|
Nephrocalcinosis, Hypercalcemia, Hypercalciuria, Infantile hypercalcemia, Hyperphosphaturia, Rena... |
ORPHA:99879 |
Spondyloepimetaphyseal Dysplasia, Missouri Type |
|
Genu varum, Metaphyseal irregularity, Flattened epiphysis, Knee osteoarthritis, Tibial bowing, Fl... |
ORPHA:93356 |
Brachyolmia Type 4 With Mild Epiphyseal And Metaphyseal Changes |
|
Brachydactyly, Bowing of the legs, Platyspondyly, Lower limb undergrowth, Short stature, Irregula... |
OMIM:612847 |
Spondyloepiphyseal Dysplasia Congenita |
|
Osteoporosis, Disproportionate short-trunk short stature, Micrognathia, Scoliosis, Genu valgum, A... |
ORPHA:94068 |
Hypophosphatasia, Infantile |
|
Elevated plasma pyrophosphate, Decreased calvarial ossification, Vertebral clefting, Rachitic ros... |
OMIM:241500 |
Rhabdoid Tumor |
|
Renal neoplasm, Hematuria, Hypercalcemia, Neoplasm of the liver, Anemia, Hypertension, Lymphadeno... |
ORPHA:69077 |
Spondyloepimetaphyseal Dysplasia With Joint Laxity |
|
Elbow flexion contracture, Abnormality of epiphysis morphology, Dislocated radial head, Hearing i... |
ORPHA:93359 |
Hyperinsulinism Due To Glucokinase Deficiency |
|
Recurrent hypoglycemia, Fasting hyperinsulinemia, Hypoketotic hypoglycemia, Type II diabetes mell... |
ORPHA:79299 |
Schimke Immunoosseous Dysplasia |
|
Coarse hair, Disproportionate short-trunk short stature, Fine hair, Anemia, Hypertension, Thrombo... |
OMIM:242900 |
Hypercalcemia, Infantile, 1 |
|
Nephrocalcinosis, Nephrolithiasis, Hypercalciuria, Polyuria, Infantile hypercalcemia, Lethargy |
OMIM:143880 |
Renal Tubular Acidosis, Distal, 1 |
|
Hypokalemia, Nephrocalcinosis, Nephrolithiasis, Elevated circulating creatinine concentration, Di... |
OMIM:179800 |
Pparg-Related Familial Partial Lipodystrophy |
|
Primary amenorrhea, Coronary artery atherosclerosis, Atherosclerosis, Hypertension, Diabetes mell... |
ORPHA:79083 |
Hypophosphatasia |
|
Bowing of the long bones, Emphysema, Craniosynostosis, Recurrent fractures, Hypercalcemia, Narrow... |
ORPHA:436 |
Eiken Syndrome |
|
Metaphyseal irregularity, Abnormal fingertip morphology, Short palm, Abnormal trabecular bone mor... |
ORPHA:79106 |
Metaphyseal Chondrodysplasia, Jansen Type |
|
Bowing of the long bones, Nephrocalcinosis, Osteopenia, Hypercalcemia, Short ribs, Clinodactyly o... |
OMIM:156400 |
Rothmund-Thomson Syndrome Type 1 |
|
Hypothyroidism, Finger symphalangism, Abnormal trabecular bone morphology, Cryptorchidism, Aplasi... |
ORPHA:221008 |
Hyperparathyroidism, Neonatal Self-Limited Primary, With Hypercalciuria |
|
Hypercalciuria, Renal tubular acidosis, Nephrocalcinosis, Hypercalcemia |
OMIM:239199 |
Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Micrognathia, Acroosteolysis of distal phalanges (feet), Hyperlipidemia, Flexion contracture, Hyp... |
OMIM:248370 |
Congenital Lobar Emphysema |
|
Emphysema, Respiratory distress |
ORPHA:1928 |
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Multiple prenatal fractures, Decreased fibular diameter, Hydronephrosis, Decreased skull ossifica... |
OMIM:616897 |
Epiphyseal Dysplasia, Multiple, With Miniepiphyses |
|
Genu varum, Patellar hypoplasia, Short femoral neck, Broad femoral neck, Irregular patellae, Epip... |
OMIM:609325 |
Primary Hypomagnesemia-Refractory Seizures-Intellectual Disability Syndrome |
|
Episodic hypokalemia, Nephrocalcinosis, Renal magnesium wasting, Renal potassium wasting, Hypomag... |
ORPHA:564178 |
Marfan Syndrome |
|
Emphysema, Ascending aortic dissection, Osteopenia, Congestive heart failure, Descending aortic d... |
ORPHA:558 |
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy |
|
Minimal subcutaneous fat, Abnormality of the nail, Muscle hypertrophy of the lower extremities, C... |
ORPHA:280365 |
Pseudohypoparathyroidism, Type Ic |
|
Brachydactyly, Enamel hypoplasia, Short metacarpal, Obesity, Osteoporosis, Short stature, Hyperph... |
OMIM:612462 |
Mandibuloacral Dysplasia Progeroid Syndrome |
|
Osteopenia, Flexion contracture, Joint stiffness, Left ventricular hypertrophy, Patent foramen ov... |
OMIM:619127 |
Intellectual Developmental Disorder With Cardiac Arrhythmia |
|
Bradycardia, Arrhythmia, Sick sinus syndrome |
OMIM:617173 |
Endove Syndrome, Limb-Only Type |
|
Aplasia of the distal phalanges of the toes, Disproportionate shortening of the tibia, 3-4 finger... |
OMIM:619217 |
Metaphyseal Chondrodysplasia, Schmid Type |
|
Genu varum, Metaphyseal sclerosis, Broad femoral neck, Distal tibial bowing, Scoliosis, Metaphyse... |
OMIM:156500 |
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor |
|
Bowing of the long bones, Genu varum, Bulging epiphyses, Metaphyseal irregularity, Sparse bone tr... |
OMIM:600785 |
Hyperinsulinemic Hypoglycemia, Familial, 5 |
|
Fasting hyperinsulinemia, Hypoglycemic seizures, Hyperinsulinemic hypoglycemia |
OMIM:609968 |
Sanjad-Sakati Syndrome |
|
Hypocalcemia, Patchy osteosclerosis, Hypoplasia of penis, Micrognathia, Severe intrauterine growt... |
ORPHA:2323 |
Microcephaly-Brachydactyly-Kyphoscoliosis Syndrome |
|
Low-set ears, Broad hallux, Atlantoaxial abnormality, Short stature, Macrotia, Broad thumb, Kypho... |
ORPHA:3433 |
Transient Neonatal Diabetes Mellitus |
|
Diabetic ketoacidosis, Hypothyroidism, Intrauterine growth retardation, Small for gestational age... |
ORPHA:99886 |
Isolated Glycerol Kinase Deficiency |
|
Cryptorchidism, Osteoporosis, Hyperlordosis, Elevated circulating creatine kinase concentration, ... |
ORPHA:408 |
Pseudohypoparathyroidism, Type Ia |
|
Brachydactyly, Enamel hypoplasia, Short metacarpal, Obesity, Osteoporosis, Short stature, Hyperph... |
OMIM:103580 |
Eiken Syndrome |
|
Clinodactyly, Flattened epiphysis, Delayed ossification of carpal bones, Type A1 brachydactyly, F... |
OMIM:600002 |
Spondyloepiphyseal Dysplasia, Stanescu Type |
|
Coxa valga, Beaking of vertebral bodies, Platyspondyly, Kyphoscoliosis, Hypoplastic ilia |
OMIM:616583 |
Pelviscapular Dysplasia |
|
Brachydactyly, Short neck, Low-set ears, Hearing impairment, Mesomelic leg shortening, Hypoplasti... |
ORPHA:93333 |
Cantú Syndrome |
|
Thick eyebrow, Osteoporosis, Curly eyelashes, Narrow chest, Short neck, Ovoid vertebral bodies, P... |
ORPHA:1517 |
Graham Little-Piccardi-Lassueur Syndrome |
|
Sparse axillary hair, Sparse scalp hair, Sparse pubic hair, Alopecia |
ORPHA:505 |
Multicentric Carpotarsal Osteolysis Syndrome |
|
Stage 5 chronic kidney disease, Osteopenia, Metatarsal osteolysis, Proteinuria, Carpal osteolysis... |
OMIM:166300 |
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency |
|
Hypoglycemia, Cardiomyopathy, Hepatomegaly |
OMIM:609016 |
Aicardi-Goutières Syndrome |
|
Hypothyroidism, Degeneration of the striatum, Neonatal alloimmune thrombocytopenia, Microcephaly,... |
ORPHA:51 |
Hypophosphatemic Rickets |
|
Fibrous dysplasia of the bones, Craniofacial osteosclerosis, Osteomalacia, Disproportionate short... |
ORPHA:437 |
Parastremmatic Dwarfism |
|
Short neck, Kyphosis, Flexion contracture, Severe short stature, Scoliosis, Genu valgum |
OMIM:168400 |
Hyperphosphatemia, Polyuria, And Seizures |
|
Hyperphosphatemia |
OMIM:239350 |
Arterial Calcification, Generalized, Of Infancy, 2 |
|
Hypophosphatemic rickets, Nephrocalcinosis |
OMIM:614473 |
Hyperparathyroidism 4 |
|
Hypercalcemia |
OMIM:617343 |
Familial Partial Lipodystrophy, Dunnigan Type |
|
Cellulitis, Abnormality of the nail, Coronary artery atherosclerosis, Atherosclerosis, Diabetes m... |
ORPHA:2348 |
Hyperinsulinemic Hypoglycemia, Familial, 3 |
|
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia, Diabetes mellitus |
OMIM:602485 |
Alkaptonuria |
|
Joint stiffness, Abnormal heart valve morphology, Arthritis, Osteoarthritis, Myocardial infarctio... |
ORPHA:56 |
Odonto-Onycho Dysplasia-Alopecia Syndrome |
|
Hypoplastic toenails, Sparse eyebrow, Sparse body hair, Alopecia, Sparse hair, Abnormal fingernai... |
ORPHA:2722 |
Osteogenesis Imperfecta, Type X |
|
Bowing of the long bones, Osteopenia, Vertebral compression fracture, Nephrolithiasis, Thin ribs,... |
OMIM:613848 |
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy |
|
Dilated cardiomyopathy, Sinus bradycardia, Atrial flutter, Cardiac arrest, Premature ventricular ... |
OMIM:616117 |
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies |
|
Intrauterine growth retardation, Hypercalcemia, Micropenis, Hypercalciuria, Postnatal growth reta... |
OMIM:614732 |
Malignant Hyperthermia, Susceptibility To, 2 |
|
Elevated circulating creatine kinase concentration, Hyperkalemia, Hyperphosphatemia |
OMIM:154275 |
Osteopathia Striata With Cranial Sclerosis |
|
Tracheomalacia, Fibular hypoplasia, Craniofacial osteosclerosis, Clinodactyly of the 5th finger, ... |
OMIM:300373 |
Multiple Synostoses Syndrome 1 |
|
Carpal synostosis, Clinodactyly of the 5th finger, Absent distal phalanges, Spinal canal stenosis... |
OMIM:186500 |
Dysspondyloenchondromatosis |
|
Abnormality of ulnar metaphysis, Abnormality of fibula morphology, Platyspondyly, Anisospondyly, ... |
ORPHA:85198 |
Pseudohypoparathyroidism Type 1B |
|
Diaphyseal sclerosis, Hypocalcemic seizures, Increased bone mineral density, Enamel hypoplasia, H... |
ORPHA:94089 |
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3 |
|
Osteopenia, Hypercalcemia, Metacarpal periosteal thickening, Hyperphosphatemia, Calvarial osteosc... |
OMIM:617994 |
Kennedy Disease |
|
Skeletal muscle atrophy, Erectile dysfunction, Abnormal circulating lipid concentration, Testicul... |
ORPHA:481 |
Rhizomelic Chondrodysplasia Punctata, Type 1 |
|
Coronal cleft vertebrae, Flexion contracture, Rhizomelia, Sensorineural hearing impairment, Epiph... |
OMIM:215100 |
Glucocorticoid Deficiency 3 |
|
Recurrent hypoglycemia |
OMIM:609197 |
Atrial Septal Defect 6 |
|
Bradycardia, Atrial fibrillation |
OMIM:613087 |
Schinzel-Giedion Syndrome |
|
Abnormality of the outer ear, Hydronephrosis, Abnormal thorax morphology, Micrognathia, Macroglos... |
ORPHA:798 |
Hypophosphatemic Bone Disease |
|
Bowing of the legs, Osteomalacia, Short stature, Hypophosphatemia, Rickets |
OMIM:146350 |
Hyperinsulinism Due To Hnf1A Deficiency |
|
Ketotic hypoglycemia, Hypoglycemic seizures, Neonatal hypoglycemia, Excessive insulin response to... |
ORPHA:324575 |
Xylt1-Cdg |
|
Clinodactyly, Short long bone, Coxa valga, Short femoral neck, Pes planus, Growth delay, Flared m... |
ORPHA:370930 |
Acrodysostosis 1 With Or Without Hormone Resistance |
|
Unilateral renal agenesis, Hypoplastic vertebral bodies, Narrow vertebral interpedicular distance... |
OMIM:101800 |
Alpha-1-Antitrypsin Deficiency |
|
Emphysema, Hepatitis, Hepatomegaly, Jaundice |
ORPHA:60 |
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia |
|
Isothenuria, Nephrocalcinosis, Hypokalemia, Distal renal tubular acidosis, Lethargy, Short stature |
OMIM:611590 |
Post-Traumatic Pituitary Deficiency |
|
Central diabetes insipidus, Hypogonadotropic hypogonadism, Infertility, Osteopenia, Hypoglycemia,... |
ORPHA:95619 |
Progressive Familial Heart Block, Type Ib |
|
Shortened PR interval, Arrhythmia, Left anterior fascicular block, Right bundle branch block, Syn... |
OMIM:604559 |
Charcot-Marie-Tooth Disease, Axonal, Type 2X |
|
Foot dorsiflexor weakness, Abnormal foot morphology, Ankle flexion contracture, Pes cavus, Kyphos... |
OMIM:616668 |
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency |
|
Hypoglycemia, Osteopenia, Increased hepatic glycogen content, Osteoporosis, Hepatomegaly, Hypertr... |
ORPHA:369 |
Polyendocrine-Polyneuropathy Syndrome |
|
Hypoglycemia, Central hypothyroidism, Cerebellar hypoplasia, Ataxia, Short stature, Postnatal gro... |
OMIM:616113 |
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss |
|
Hypokalemia, Nephrocalcinosis, Distal renal tubular acidosis, Hypercalciuria, Growth delay |
OMIM:602722 |
Flynn-Aird Syndrome |
|
Cerebral calcification, Primary adrenal insufficiency, Joint stiffness, Kyphosis, Skeletal muscle... |
ORPHA:2047 |
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome |
|
Finger syndactyly, Clinodactyly of the 5th finger, Abnormal rib morphology, Radioulnar synostosis... |
ORPHA:3268 |
Thanatophoric Dysplasia Type 1 |
|
Short greater sciatic notch, Micromelia, Narrow chest, Lethal short-limbed short stature, Brachyd... |
ORPHA:1860 |
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs |
|
Absent ossification of capital femoral epiphysis, Goiter, Bradycardia, Congenital hypothyroidism,... |
ORPHA:226313 |
46,Xx Gonadal Dysgenesis |
|
Osteopenia, Primary amenorrhea, Aplasia/hypoplasia of the uterus, Decreased serum estradiol, Atax... |
ORPHA:243 |
Atelosteogenesis Type Ii |
|
Cervical kyphosis, Sandal gap, Rhizomelic arm shortening, Micrognathia, Micromelia, Ulnar deviati... |
ORPHA:56304 |
Sarcoidosis, Susceptibility To, 2 |
|
Emphysema, Restrictive ventilatory defect, Hypoxemia, Elevated bronchoalveolar lavage fluid lymph... |
OMIM:612387 |
Short Qt Syndrome 2 |
|
Ventricular fibrillation, Bradycardia, Sudden cardiac death, Atrial fibrillation, Syncope, Shorte... |
OMIM:609621 |
His Bundle Tachycardia |
|
Arrhythmia, Cardiomyopathy, Junctional ectopic tachycardia |
ORPHA:3283 |
Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome |
|
Brachydactyly, Rhizomelia, Sensorineural hearing impairment, Hypoplastic scapulae, Micrognathia, ... |
ORPHA:440354 |
Warburg Micro Syndrome 1 |
|
Cerebral atrophy, Hypertrichosis, Agenesis of corpus callosum, Cryptorchidism, Cerebellar hypopla... |
OMIM:600118 |
Hyperinsulinemic Hypoglycemia, Familial, 1 |
|
Hypoglycemic seizures, Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia |
OMIM:256450 |
Calciphylaxis |
|
Cellulitis, Secondary hyperparathyroidism, Hyperphosphatemia, Ectopic ossification, Arterial calc... |
ORPHA:280062 |
Distal Arthrogryposis Type 1 |
|
Abnormal hip bone morphology, Talipes, Rocker bottom foot, Overlapping fingers, Adducted thumb, U... |
ORPHA:1146 |
Fibrous Dysplasia Of Bone |
|
Fibrous dysplasia of the bones, Ovarian cyst, Osteomalacia, Scoliosis, Diabetes mellitus, Rickets... |
ORPHA:249 |
Hypoparathyroidism-Retardation-Dysmorphism Syndrome |
|
Hypocalcemic seizures, Short palm, Hypocalcemia, Patchy osteosclerosis, Severe intrauterine growt... |
OMIM:241410 |
Arterial Calcification, Generalized, Of Infancy, 1 |
|
Congestive heart failure, Hypophosphatemic rickets, Myocardial infarction, Short stature, Hyperte... |
OMIM:208000 |
Hypogonadotropic Hypogonadism 20 With Or Without Anosmia |
|
Delayed puberty, Osteopenia, Osteoporosis, Hypogonadism |
OMIM:615270 |
Lethal Congenital Contracture Syndrome 10 |
|
Thoracic scoliosis, Short neck, Intrauterine growth retardation, Overlapping fingers, Micrognathi... |
OMIM:617022 |
Diffuse Neonatal Hemangiomatosis |
|
Renal hypoplasia/aplasia, Hypercalcemia, Ascites, Hydrops fetalis, Hepatomegaly, Anemia, Polyhydr... |
ORPHA:2123 |
Craniofacial Dysostosis With Diaphyseal Hyperplasia |
|
Brachydactyly, Pectus excavatum, Micromelia, Short stature, Limb undergrowth, Massively thickened... |
OMIM:122900 |
Birt-Hogg-Dubé Syndrome |
|
Emphysema, Medullary thyroid carcinoma, Parathyroid adenoma, Pneumothorax, Pulmonary sequestration |
ORPHA:122 |
Supravalvular Aortic Stenosis |
|
Supravalvular aortic stenosis, Arrhythmia |
ORPHA:3193 |
Chronic Atrial And Intestinal Dysrhythmia |
|
Atrial flutter, Mitral regurgitation, Pulmonic stenosis, Sick sinus syndrome, Atrial fibrillation... |
OMIM:616201 |
Alopecia-Intellectual Disability-Hypergonadotropic Hypogonadism Syndrome |
|
Hypergonadotropic hypogonadism, Alopecia totalis |
ORPHA:1014 |
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly |
|
Brachydactyly, Horizontal ribs, Nephrocalcinosis, Postaxial polydactyly, Lateral clavicle hook, T... |
OMIM:615633 |
Metaphyseal Dysplasia Without Hypotrichosis |
|
Genu varum, Metaphyseal irregularity, Abnormality of pelvic girdle bone morphology, Short long bo... |
OMIM:250460 |
Roussy-Lévy Syndrome |
|
Skeletal muscle atrophy, Lower limb muscle weakness, Intrinsic hand muscle atrophy, Pes cavus, Sc... |
ORPHA:3115 |
Cerebral Autosomal Recessive Arteriopathy-Subcortical Infarcts-Leukoencephalopathy |
|
Arteriosclerosis, Cervical spondylosis, Back pain, Deep cerebral white matter hyperintensities, L... |
ORPHA:199354 |
Fibular Dimelia-Diplopodia Syndrome |
|
Absent tibia |
ORPHA:1757 |
Meier-Gorlin Syndrome 1 |
|
Genu varum, Absent sternal ossification, Clinodactyly of the 5th finger, Atresia of the external ... |
OMIM:224690 |
Ectodermal Dysplasia 6, Hair/Nail Type |
|
Sparse hair, Dystrophic toenail, Thin toenail, Alopecia |
OMIM:614928 |
Charcot-Marie-Tooth Disease Type 4D |
|
Lower limb amyotrophy, Hammertoe, Abnormal foot morphology, Sensorineural hearing impairment, Upp... |
ORPHA:99950 |
Morbid Obesity And Spermatogenic Failure |
|
Infertility, Hepatic steatosis, Insulin resistance, Hypercholesterolemia, Azoospermia, Congestive... |
OMIM:615703 |
Berry Aneurysm, Cirrhosis, Pulmonary Emphysema, And Cerebral Calcification |
|
Emphysema, Hepatic failure, Portal hypertension, Short stature, Nonarteriosclerotic cerebral calc... |
OMIM:210050 |
Sclerosteosis 1 |
|
Abnormality of pelvic girdle bone morphology, Deviation of finger, Cortically dense long tubular ... |
OMIM:269500 |
Spondyloepiphyseal Dysplasia Tarda |
|
Disproportionate short-trunk short stature, Abnormality of the tibial plateaux, Scoliosis, Decrea... |
ORPHA:93284 |
Perrault Syndrome 1 |
|
Cerebellar atrophy, Primary amenorrhea, Osteoporosis, Ataxia, Gait ataxia, Short stature, Scolios... |
OMIM:233400 |
Brachydactyly-Ectrodactyly With Fibular Aplasia Or Hypoplasia |
|
Brachydactyly, Aplasia/Hypoplasia of the fibula, Short phalanx of finger, Fibular aplasia, Split ... |
OMIM:113310 |
Spondyloepimetaphyseal Dysplasia With Hypotrichosis |
|
Genu varum, Short femoral neck, Flared iliac wing, Flared humeral metaphysis, Rhizomelia, Flared ... |
OMIM:183849 |
Microcephaly, Short Stature, And Impaired Glucose Metabolism 1 |
|
Delayed thelarche, Primary amenorrhea, Short neck, Joint laxity, Osteoporosis, Dorsocervical fat ... |
OMIM:616033 |
Dwarfism, Low-Birth-Weight Type, With Unresponsiveness To Growth Hormone |
|
Severe short stature, Hypoglycemia, Intrauterine growth retardation |
OMIM:223500 |
Spondyloepiphyseal Dysplasia Tarda With Mental Retardation |
|
Coxa valga, Short greater sciatic notch |
OMIM:271620 |
Congenital Disorder Of Glycosylation, Type Ig |
|
Patent ductus arteriosus, Rhizomelia, Sensorineural hearing impairment, Sandal gap, Hypocalcemia,... |
OMIM:607143 |
Malignant Hyperthermia, Susceptibility To, 3 |
|
Elevated circulating creatine kinase concentration, Hyperkalemia, Hyperphosphatemia |
OMIM:154276 |
Endosteal Hyperostosis, Worth Type |
|
Clavicular sclerosis, Abnormal form of the vertebral bodies, Craniofacial hyperostosis, Sensorine... |
ORPHA:2790 |
Richieri Costa-Da Silva Syndrome |
|
Decreased anterioposterior diameter of lumbar vertebral bodies, Generalized bone demineralization... |
ORPHA:3101 |
Werner Syndrome |
|
Aplasia/Hypoplasia of the testes, Osteoporosis, Telangiectasia of the skin, Chondrocalcinosis, At... |
ORPHA:902 |
Thymic Neuroendocrine Tumor |
|
Osteopenia, Hypercalcemia, Neuroendocrine neoplasm, Pituitary prolactin cell adenoma, Prominent v... |
ORPHA:97289 |
Glycogen Storage Disease 0, Liver |
|
Fasting hypoglycemia, Neonatal hypoglycemia, Postprandial hyperglycemia |
OMIM:240600 |
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly |
|
Clinodactyly, Aplasia/Hypoplasia of the 5th finger, Hypoplastic iliac wing, Aplasia/Hypoplasia of... |
OMIM:228930 |
Idiopathic Congenital Hypothyroidism |
|
Delayed proximal femoral epiphyseal ossification, Decreased circulating T4 level, Prolonged neona... |
ORPHA:95717 |
Hyperphosphatasia With Mental Retardation Syndrome 6 |
|
Large earlobe, Clinodactyly, Shortening of all distal phalanges of the fingers, Flexion contractu... |
OMIM:616809 |
Microcephaly, Short Stature, And Impaired Glucose Metabolism 2 |
|
Kinetic tremor, Intrauterine growth retardation, Prominent superficial veins, Increased vertebral... |
OMIM:616817 |
Dyskeratosis Congenita, Autosomal Recessive 2 |
|
Pancytopenia, Cerebral calcification, Bone marrow hypocellularity, Nail dysplasia, Growth delay, ... |
OMIM:613987 |
Insulin Autoimmune Syndrome |
|
Fasting hypoglycemia, Nonketotic hypoglycemia, Insulin resistance, Reactive hypoglycemia, Insulin... |
ORPHA:411593 |
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Fkbp22 Deficiency |
|
Osteopenia, Skeletal muscle atrophy, Pes planus, Sensorineural hearing impairment, Hernia, Joint ... |
ORPHA:300179 |
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency |
|
Hypoglycemic seizures, Fasting hypoglycemia, Excessive insulin response to glucagon test, Hyperin... |
ORPHA:276580 |
Alopecia Totalis |
|
Alopecia of scalp, Alopecia |
ORPHA:700 |
Alopecia Universalis Congenita |
|
Alopecia universalis, Alopecia |
OMIM:203655 |
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome |
|
Small hypothenar eminence, Infertility, Primary amenorrhea, Cryptorchidism, Osteoporosis, Decreas... |
ORPHA:2232 |
Long Qt Syndrome 16 |
|
Bradycardia, Second degree atrioventricular block, T-wave alternans, Prolonged QTc interval |
OMIM:618782 |
Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Abnormal fingertip morphology, Hyperlipidemia, Insulin resistance, Aplasia/Hypoplasia of the clav... |
ORPHA:90154 |
Ghosal Hematodiaphyseal Dysplasia |
|
Bowing of the long bones, Abnormality of pelvic girdle bone morphology, Diaphyseal thickening, Ab... |
ORPHA:1802 |
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency |
|
Hypoglycemic seizures, Fasting hypoglycemia, Excessive insulin response to glucagon test, Type I ... |
ORPHA:276575 |
X-Linked Dominant Chondrodysplasia Punctata |
|
Patchy alopecia, Coarse hair, Hydronephrosis, Patellar dislocation, Hip dislocation, Lower limb a... |
ORPHA:35173 |
Hypoinsulinemic Hypoglycemia With Hemihypertrophy |
|
Large for gestational age, Neonatal hypoglycemia, Truncal obesity |
OMIM:240900 |
Hypophosphatemic Rickets, X-Linked Recessive |
|
Hypophosphatemic rickets, Osteomalacia, Fibular bowing, Rickets, Bowing of the legs, Nephrocalcin... |
OMIM:300554 |
Osteopetrosis, Autosomal Recessive 6 |
|
Cortical sclerosis of the iliac wing, Osteopetrosis, Dense metaphyseal bands, Erlenmeyer flask de... |
OMIM:611497 |
Axial Mesodermal Dysplasia Spectrum |
|
Renal cyst, Abnormality of the ureter, Abnormality of the liver, Morphological abnormality of the... |
ORPHA:1834 |
Hereditary Hypophosphatemic Rickets With Hypercalciuria |
|
Nephrolithiasis, Hypercalciuria, Hypophosphatemic rickets, Hyperphosphaturia, Growth delay, Short... |
ORPHA:157215 |
Hyperinsulinemic Hypoglycemia, Familial, 4 |
|
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia |
OMIM:609975 |
Fanconi Renotubular Syndrome 5 |
|
Emphysema, Glycosuria, Lung adenocarcinoma, Hypertension, Pulmonary fibrosis, Decreased DLCO |
OMIM:618913 |
Ulna And Fibula, Absence Of, With Severe Limb Deficiency |
|
Decreased calvarial ossification, Aplasia/Hypoplasia involving the carpal bones, Aplasia of the u... |
OMIM:276820 |
Autosomal Recessive Kenny-Caffey Syndrome |
|
Thin long bone diaphyses, Hypocalcemic seizures, Intrauterine growth retardation, Hypocalcemia, G... |
ORPHA:93324 |
Hypogonadotropic Hypogonadism 19 With Or Without Anosmia |
|
Hypogonadotropic hypogonadism, Osteopenia, Osteoporosis |
OMIM:615269 |
Spinocerebellar Ataxia 32 |
|
Infertility, Cerebellar atrophy, Azoospermia, Ataxia, Testicular atrophy |
OMIM:613909 |
Cutis Laxa-Marfanoid Syndrome |
|
Emphysema, Flexion contracture, Abnormal heart valve morphology, Congenital diaphragmatic hernia,... |
ORPHA:171719 |
Split-Hand/Foot Malformation With Long Bone Deficiency 1 |
|
Aplasia of the 3rd finger, Absent tibia, Short hallux, Aplasia/Hypoplasia of the ulna, Split hand... |
OMIM:119100 |
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull |
|
Abnormality of the diaphragm, Decreased skull ossification, Congenital diaphragmatic hernia, Test... |
OMIM:601163 |
Hypoglycemia, Leucine-Induced |
|
Hypoglycemia, Hyperinsulinemic hypoglycemia |
OMIM:240800 |
Acheiropodia |
|
Abnormality of epiphysis morphology, Absent radius, Aplasia of the ulna, Fibular aplasia, Abnorma... |
ORPHA:931 |
Diastrophic Dysplasia |
|
Camptodactyly of finger, Abnormal rib morphology, Micrognathia, Micromelia, Scoliosis, Hip dyspla... |
ORPHA:628 |
Myopathic Ehlers-Danlos Syndrome |
|
Pes planus, Increased variability in muscle fiber diameter, Tapered finger, Micrognathia, Scolios... |
ORPHA:536516 |
Alstrom Syndrome |
|
Hypothyroidism, Irregular menstruation, Diabetes insipidus, Atherosclerosis, Scoliosis, Hypertens... |
OMIM:203800 |
Kenny-Caffey Syndrome, Type 2 |
|
Transient hypophosphatemia, Small for gestational age, Increased bone mineral density, Severe sho... |
OMIM:127000 |
Hypervitaminosis A, Susceptibility To |
|
Hypercalcemia, Renal insufficiency |
OMIM:240150 |
Dent Disease 1 |
|
Glycosuria, Osteomalacia, Microscopic hematuria, Fibular bowing, Stage 5 chronic kidney disease, ... |
OMIM:300009 |
Spondylometaphyseal Dysplasia, Algerian Type |
|
Carpal bone hypoplasia, Hypoplasia of proximal radius, Short long bone, Short greater sciatic not... |
OMIM:184253 |
Rothmund-Thomson Syndrome |
|
Infertility, Abnormality of the nail, Abnormal trabecular bone morphology, Nail dysplasia, Telang... |
ORPHA:2909 |
Osteopetrosis, Autosomal Recessive 1 |
|
Pancytopenia, Craniosynostosis, Increased bone mineral density, Femur fracture, Splenomegaly, Hep... |
OMIM:259700 |
Metatropic Dysplasia |
|
Abnormal cortical bone morphology, Kyphosis, Aplasia/Hypoplasia of the lungs, Abnormal form of th... |
ORPHA:2635 |
Rare Circulatory System Disease |
|
Thoracic kyphosis, Limited wrist movement, Periostosis, Abnormal vascular morphology, Vascular ca... |
ORPHA:98028 |
Charcot-Marie-Tooth Disease, Demyelinating, Type 1A |
|
Ulnar claw, Foot dorsiflexor weakness, Hammertoe, Limb muscle weakness, Pes cavus, Distal amyotro... |
OMIM:118220 |
Spinocerebellar Ataxia Type 32 |
|
Cerebellar atrophy, Azoospermia, Testicular atrophy, Progressive cerebellar ataxia, Male infertility |
ORPHA:276183 |
Intellectual Disability-Balding-Patella Luxation-Acromicria Syndrome |
|
Acromesomelia, Pes cavus, Short toe, Protruding ear, Lumbar kyphosis in infancy, Decreased muscle... |
ORPHA:3041 |
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome |
|
Fasting hypoglycemia, Hyperinsulinemia, Pancreatic islet-cell hyperplasia, Reactive hypoglycemia,... |
ORPHA:276608 |
X-Linked Intellectual Disability, Stocco Dos Santos Type |
|
Increased serum serotonin, Recurrent respiratory infections, Hirsutism, Kyphosis |
ORPHA:85288 |
Nemaline Myopathy 7 |
|
Minicore myopathy, Nemaline bodies, Pes planus, Knee flexion contracture, Limb muscle weakness, L... |
OMIM:610687 |
Nephronophthisis 2 |
|
Nephronophthisis, Enlarged kidney, Renal cortical microcysts, Pulmonary insufficiency, Elevated c... |
OMIM:602088 |
Hypergonadotropic Hypogonadism-Cataract Syndrome |
|
Primary amenorrhea, Recurrent fractures, Delayed puberty, Osteoporosis, Secondary growth hormone ... |
ORPHA:2410 |
Glycogen Storage Disease Vi |
|
Hypoglycemia, Failure to thrive in infancy, Increased hepatic glycogen content, Hepatomegaly, Pos... |
OMIM:232700 |
Rajab Interstitial Lung Disease With Brain Calcifications 1 |
|
Pancytopenia, Hypoglycemia, Cholestasis, Bile duct proliferation, Tachypnea, Inguinal hernia, Ane... |
OMIM:613658 |
Malignant Hyperthermia, Susceptibility To, 1 |
|
Elevated circulating creatine kinase concentration, Hyperkalemia, Hyperphosphatemia |
OMIM:145600 |
Myhre Syndrome |
|
Clinodactyly, Generalized muscle hypertrophy, Radial deviation of finger, Cone-shaped epiphysis, ... |
OMIM:139210 |
Candidiasis, Familial, 1 |
|
Abnormality of the endocrine system, Alopecia |
OMIM:114580 |
Atrial Standstill |
|
Atrial standstill, Ventricular tachycardia, Arrhythmia, Congestive heart failure, Reduced ejectio... |
ORPHA:1344 |
Rothmund-Thomson Syndrome Type 2 |
|
Finger symphalangism, Osteopenia, Abnormal trabecular bone morphology, Leukemia, Cryptorchidism, ... |
ORPHA:221016 |
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome |
|
Pancytopenia, Anemia, Scoliosis, Aortic valve calcification, Thrombocytopenia, Abnormal pulmonary... |
ORPHA:2072 |
Lenz-Majewski Hyperostotic Dwarfism |
|
Chordee, Prominent scalp veins, Micrognathia, Proximal symphalangism of hands, Inguinal hernia, B... |
OMIM:151050 |
Fructose And Galactose Intolerance |
|
Hypoglycemia |
OMIM:229500 |
Scheuermann Disease |
|
Kyphosis, Morbus Scheuermann |
OMIM:181440 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 3 |
|
Hypoglycemia, Hepatomegaly |
OMIM:615158 |
Timothy Syndrome |
|
Hypothyroidism, Hypoglycemia, Pneumonia, Patent foramen ovale, Tetralogy of Fallot, Patent ductus... |
OMIM:601005 |
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris |
|
Tetralogy of Fallot, Cryptorchidism, Congenital diaphragmatic hernia, Ventricular septal defect, ... |
ORPHA:1166 |
Alopecia, Congenital |
|
Sparse hair, Alopecia |
OMIM:300042 |
Cerebrooculofacioskeletal Syndrome 1 |
|
Abnormality of the ear, Coxa valga, Elbow flexion contracture, Second metatarsal posteriorly plac... |
OMIM:214150 |
Cardiac Arrhythmia, Ankyrin-B-Related |
|
Sinus bradycardia, Sudden cardiac death, Atrial fibrillation, Prolonged QT interval, Syncope |
OMIM:600919 |
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut- |
|
Splenomegaly, Hepatomegaly, Neutropenia, Anemia, Cardiomyopathy, Respiratory distress, Pancreatit... |
ORPHA:79312 |
Cutis Laxa, Autosomal Dominant 1 |
|
Emphysema, Mitral regurgitation, Aortic regurgitation |
OMIM:123700 |
Genetic Recurrent Myoglobinuria |
|
Oliguria, Acute kidney injury, Hyperkalemia, Hypocalcemia, Recurrent myoglobinuria, Highly elevat... |
ORPHA:99845 |
Osteopetrosis, Autosomal Recessive 8 |
|
Splenomegaly, Hepatomegaly, Anemia, Failure to thrive, Osteopetrosis, Thrombocytopenia |
OMIM:615085 |
Atelosteogenesis, Type I |
|
Coronal cleft vertebrae, Vertebral hypoplasia, Talipes, Thoracic platyspondyly, 11 pairs of ribs,... |
OMIM:108720 |
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome |
|
Abnormal hip bone morphology, Pes planus, Clinodactyly of the 5th finger, Cone-shaped epiphysis, ... |
ORPHA:457395 |
Alpha-Heavy Chain Disease |
|
Hypocalcemia, Splenomegaly, Hepatomegaly, Abnormality of the small intestine, Anemia, Lymphadenop... |
ORPHA:100025 |
Hyperparathyroidism 2 With Jaw Tumors |
|
Nephrolithiasis, Hypercalcemia, Renal cortical adenoma, Polycystic kidney dysplasia, Papillary re... |
OMIM:145001 |
Progressive Pseudorheumatoid Dysplasia |
|
Genu varum, Flattened epiphysis, Enlargement of the proximal femoral epiphysis, Camptodactyly of ... |
OMIM:208230 |
Kyphomelic Dysplasia |
|
Micrognathia, Micromelia, Disproportionate short stature, Lateral clavicle hook, Ulnar bowing, Fl... |
OMIM:211350 |
Atelosteogenesis Type I |
|
Brachydactyly, Coronal cleft vertebrae, Absent or minimally ossified vertebral bodies, Low-set ea... |
ORPHA:1190 |
Spondyloepiphyseal Dysplasia Tarda, Autosomal Dominant |
|
Avascular necrosis of the capital femoral epiphysis, Short neck, Cervical subluxation, Hypoplasia... |
OMIM:184100 |
Hemochromatosis Type 2 |
|
Increased circulating ferritin concentration, Dilated cardiomyopathy, Osteoporosis, Elevated tran... |
ORPHA:79230 |
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome |
|
Cryptorchidism, Limitation of joint mobility, Cerebral artery atherosclerosis, Hyperlordosis, Cor... |
ORPHA:1192 |
Hennekam Lymphangiectasia-Lymphedema Syndrome 1 |
|
Erysipelas, Intestinal lymphangiectasia, Hydronephrosis, Hypoplastic iliac wing, Thyroid lymphang... |
OMIM:235510 |
Hypophosphatemia, Renal, With Intracerebral Calcifications |
|
Renal hypophosphatemia |
OMIM:241519 |
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness |
|
Cupped ribs, Delayed ossification of carpal bones, Pes planus, Hypoplastic iliac wing, Scoliosis,... |
OMIM:609616 |
Infantile Myofibromatosis |
|
Hypercalcemia, Abnormality of the kidney, Tracheoesophageal fistula, Chondrocalcinosis, Abnormali... |
ORPHA:2591 |
Fanconi-Bickel Syndrome |
|
Glycosuria, Hepatic failure, Diabetes mellitus, Postprandial hyperglycemia, Rickets, Bowing of th... |
ORPHA:2088 |
Fetal Encasement Syndrome |
|
Tetralogy of Fallot, Increased urinary 8-oxo-7,8-dihydroguanosine level, Horseshoe kidney, Upper ... |
OMIM:613630 |
Aapoaiv Amyloidosis |
|
Elevated circulating creatinine concentration, Proteinuria, Cardiac amyloidosis, Renal amyloidosi... |
ORPHA:439232 |
Epidermolysis Bullosa Simplex 6, Generalized, With Scarring And Hair Loss |
|
Dystrophic toenail, Sparse body hair, Onychogryposis of toenails, Alopecia, Alopecia of scalp |
OMIM:617294 |
Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant |
|
Bradycardia, Atrial fibrillation, Arrhythmia |
OMIM:614302 |
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease |
|
Enlarged kidney, Renal cyst, Portal hypertension, Pancreatic cysts, Periportal fibrosis, Splenome... |
OMIM:263200 |
Endocardial Fibroelastosis |
|
Cognitive impairment, Hypoglycemia, Sandal gap, Anterior hypopituitarism, Micrognathia |
ORPHA:2022 |
Orofaciodigital Syndrome Type 10 |
|
Hypoplasia of proximal radius, Preaxial polydactyly, Mesomelic leg shortening, Oligodactyly, Micr... |
ORPHA:2756 |
Fibular Aplasia-Ectrodactyly Syndrome |
|
Abnormality of the ulna, Split hand, Aplasia/Hypoplasia of the fibula |
ORPHA:1118 |
Isochromosomy Yq |
|
Primary gonadal insufficiency, Varicocele, Azoospermia, Decreased testicular size, Male infertili... |
ORPHA:98798 |
Acromesomelic Dysplasia, Maroteaux Type |
|
Brachydactyly, Acromesomelia, Bowing of the long bones, Ovoid vertebral bodies, Kyphosis, Abnorma... |
ORPHA:40 |
Nephropathy-Deafness-Hyperparathyroidism Syndrome |
|
Renal insufficiency, Hypercalcemia, Glomerulopathy, Proteinuria |
ORPHA:2668 |
Late-Onset Isolated Acth Deficiency |
|
Hypoglycemia, Orthostatic hypotension, Hashimoto thyroiditis, Adrenocorticotropic hormone deficie... |
ORPHA:199299 |
Hyperinsulinism Due To Ucp2 Deficiency |
|
Hypoglycemic seizures, Excessive insulin response to glucagon test, Recurrent hypoglycemia, Hyper... |
ORPHA:276556 |
Congenital Aortic Valve Stenosis |
|
Abnormal T-wave, Aortic valve atresia, Thoracic aortic aneurysm, Endocardial fibroelastosis, Dysp... |
ORPHA:3093 |
Arthrogryposis, Distal, Type 3 |
|
Distal arthrogryposis, Micrognathia, Abnormal rib cage morphology, Ulnar deviation of the hand or... |
OMIM:114300 |
Hemochromatosis, Type 2A |
|
Increased circulating ferritin concentration, Hypogonadotropic hypogonadism, Infertility, Dilated... |
OMIM:602390 |
Progressive Familial Heart Block, Type Ii |
|
Sinus bradycardia, Complete heart block with narrow QRS complexes, Sudden cardiac death, Atrioven... |
OMIM:140400 |
Serkal Syndrome |
|
Renal agenesis, Malrotation of small bowel, Abnormal penis morphology, Pulmonic stenosis, Congeni... |
ORPHA:139466 |
Perifolliculitis Capitis Abscedens Et Suffodiens, Familial |
|
Alopecia of scalp, Alopecia |
OMIM:260910 |
Stapes Ankylosis With Broad Thumbs And Toes |
|
Toe syndactyly, Congenital stapes ankylosis, Conductive hearing impairment, Broad hallux, Short d... |
OMIM:184460 |
You-Hoover-Fong Syndrome |
|
Kyphoscoliosis, Hearing impairment, Pectus excavatum |
OMIM:616954 |
Hypophosphatemic Rickets, Autosomal Recessive, 1 |
|
Craniosynostosis, Increased bone mineral density, Hypophosphatemic rickets, Hypophosphatemia, Ric... |
OMIM:241520 |
Osteomyelitis, Sterile Multifocal, With Periostitis And Pustulosis |
|
Osteopenia, Periostitis, Elevated circulating C-reactive protein concentration, Hyperkeratosis, O... |
OMIM:612852 |
Weill-Marchesani Syndrome 2 |
|
Scoliosis, Spinal canal stenosis, Proportionate short stature, Thickened helices, Brachydactyly, ... |
OMIM:608328 |
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects |
|
Brachydactyly, Tetralogy of Fallot, Vertebral clefting, 2-3 toe syndactyly, Low-set ears, Short f... |
OMIM:614701 |
Ichthyosis--Cheek--Eyebrow Syndrome |
|
Pes planus, Kyphoscoliosis, Abnormal thorax morphology |
OMIM:146720 |
Alg6-Cdg |
|
Brachydactyly, Shortening of all distal phalanges of the fingers, Low-set ears, Jaundice, Macrogl... |
ORPHA:79320 |
Alopecia, Psychomotor Epilepsy, Pyorrhea, And Mental Subnormality |
|
Alopecia universalis, Congenital alopecia totalis |
OMIM:104130 |
Growth Failure, Microcephaly, Mental Retardation, Cataracts, Large Joint Contractures, Osteoporosis, Cortical Dysplasia, And Cerebellar Atrophy |
|
Cerebellar atrophy, Contractures of the large joints, Osteoporosis, Microcephaly, Short stature, ... |
OMIM:608278 |
Functioning Gonadotropic Adenoma |
|
Infertility, Panhypopituitarism, Osteoporosis, Ovarian cyst, Adrenocorticotropic hormone deficien... |
ORPHA:91348 |
Schinzel-Giedion Midface Retraction Syndrome |
|
Opisthotonus, Hydronephrosis, Macroglossia, Sacrococcygeal teratoma, Short 1st metacarpal, Hypert... |
OMIM:269150 |
Ulna And Fibula, Hypoplasia Of |
|
Hypoplasia of the ulna, Fibular hypoplasia |
OMIM:191400 |
Roussy-Levy Hereditary Areflexic Dystasia |
|
Action tremor, Hammertoe, Pes cavus, Distal amyotrophy, Kyphoscoliosis, Upper limb postural tremor |
OMIM:180800 |
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1 |
|
Nephrocalcinosis, Decreased renal tubular phosphate excretion, Increased renal tubular phosphate ... |
OMIM:211900 |
Tibial Hemimelia |
|
Radial club hand, Mesomelic leg shortening, Short tibia, Increased laxity of ankles, Hip dysplasi... |
ORPHA:93322 |
Isochromosomy Yp |
|
Primary gonadal insufficiency, Azoospermia, Male infertility, Ambiguous genitalia, Decreased test... |
ORPHA:98797 |
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly |
|
Nephronophthisis, Renal cyst, Bifid uvula, High palate, Craniosynostosis, Cholestasis, Short femo... |
OMIM:266920 |
Senior-Loken Syndrome |
|
Stage 5 chronic kidney disease, Chronic kidney disease, Congenital hepatic fibrosis, Hypertension... |
ORPHA:3156 |
Autoimmune Hypoparathyroidism |
|
Hypocalcemic seizures, Hypocalcemia, Hyperphosphatemia, Hypocalcemic tetany, Calcium nephrolithiasis |
ORPHA:36913 |
Craniodiaphyseal Dysplasia, Autosomal Dominant |
|
Diaphyseal sclerosis, Craniofacial osteosclerosis, Hearing impairment, Craniofacial hyperostosis,... |
OMIM:122860 |
Premature Ovarian Failure 2B |
|
Premature ovarian insufficiency, Delayed puberty, Osteoporosis, Primary amenorrhea |
OMIM:300604 |
Anauxetic Dysplasia 2 |
|
Brachydactyly, Ovoid vertebral bodies, Short neck, Hypoplasia of the femoral head, Thoracolumbar ... |
OMIM:617396 |
Hypocalcemic Vitamin D-Resistant Rickets |
|
Genu varum, Abnormal hip bone morphology, Recurrent fractures, Abnormal bone structure, Hypocalce... |
ORPHA:93160 |
Spondylocostal Dysostosis 1, Autosomal Recessive |
|
Block vertebrae, Short neck, Severe short stature, Disproportionate short-trunk short stature, Ba... |
OMIM:277300 |
Coenzyme Q10 Deficiency, Primary, 8 |
|
Left ventricular hypertrophy, Flexion contracture, Elevated circulating creatinine concentration,... |
OMIM:616733 |
Charcot-Marie-Tooth Disease, Type 4B2 |
|
Ulnar claw, Foot dorsiflexor weakness, Hammertoe, Sensorineural hearing impairment, Pes cavus, Di... |
OMIM:604563 |
Maternal Uniparental Disomy Of Chromosome 9 |
|
Hamstring contractures, Short neck, Intrauterine growth retardation, Low-set ears, Abnormal verte... |
ORPHA:96183 |
Silver-Russell Syndrome Due To An Imprinting Defect Of 11P15 |
|
Decreased body weight, Hypoglycemia, Neonatal hypoglycemia, Small for gestational age, Clinodacty... |
ORPHA:231140 |
Familial Hyperprolactinemia |
|
Hemorrhagic ovarian cyst, Infertility, Osteopenia, Female hypogonadism, Amenorrhea, Menorrhagia, ... |
ORPHA:397685 |
Hyperparathyroidism, Neonatal Severe |
|
Metaphyseal irregularity, Recurrent fractures, Hypercalcemia, Hypercalciuria, Tachypnea, Polyuria... |
OMIM:239200 |
Glycerol Kinase Deficiency |
|
Adrenal insufficiency, Hypoglycemia, Cryptorchidism, Muscular dystrophy, Osteoporosis, Growth del... |
OMIM:307030 |
Familial Scheuermann Disease |
|
Kyphosis, Abnormal form of the vertebral bodies |
ORPHA:3135 |
Osteopetrosis, Autosomal Dominant 2 |
|
Fractures of the long bones, Abnormality of pelvic girdle bone morphology, Recurrent fractures, H... |
OMIM:166600 |
Orofaciodigital Syndrome Viii |
|
Syndactyly, Short tibia, Polydactyly |
OMIM:300484 |
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome |
|
Upper limb asymmetry, Finger syndactyly, Aplasia/Hypoplasia of the fibula, Clinodactyly of the 5t... |
ORPHA:2141 |
Hypocomplementemic Urticarial Vasculitis |
|
Emphysema, Restrictive ventilatory defect, Abnormal heart valve morphology, Airway obstruction, S... |
ORPHA:36412 |
Myopathy, Areflexia, Respiratory Distress, And Dysphagia, Early-Onset |
|
High palate, Restrictive ventilatory defect, Camptodactyly of finger, Muscle fiber necrosis, Gast... |
OMIM:614399 |
Small Cell Carcinoma Of The Bladder |
|
Dysuria, Hypercalcemia, Recurrent urinary tract infections, Hematuria |
ORPHA:284400 |
Renal Tubular Acidosis Iii |
|
Hypokalemia, Nephrocalcinosis, Nephrolithiasis, Bicarbonate-wasting renal tubular acidosis |
OMIM:267200 |
X-Linked Hypophosphatemia |
|
Genu varum, Cellulitis, Upper limb metaphyseal widening, Rachitic rosary, Disproportionate short ... |
ORPHA:89936 |
Long Qt Syndrome 8 |
|
Sinus bradycardia, Ventricular fibrillation, Sudden cardiac death, Syncope, Prolonged QTc interva... |
OMIM:618447 |
Long Qt Syndrome 9 |
|
Sinus bradycardia, Prolonged QT interval, Cardiac arrest, Ventricular arrhythmia |
OMIM:611818 |
Lipodystrophy, Congenital Generalized, Type 4 |
|
Lipodystrophy, Hepatic steatosis, Flexion contracture, Osteopenia, Insulin resistance, Hyperinsul... |
OMIM:613327 |
Oculoskeletodental Syndrome |
|
Renal agenesis, Short femoral neck, Hypercalcemia, Hypercalciuria, Cryptorchidism, Hypocalcemia, ... |
OMIM:618440 |
Mental Retardation, X-Linked 82 |
|
Scoliosis, Kyphosis |
OMIM:300518 |
Myotonic Dystrophy 1 |
|
Cholelithiasis, Cerebral atrophy, Atrial flutter, First degree atrioventricular block, Frontal ba... |
OMIM:160900 |
Aarskog-Scott Syndrome |
|
Widow's peak, Short neck, Cryptorchidism, Joint laxity, Shawl scrotum, Elevated circulating lutei... |
OMIM:305400 |
Vitamin D Hydroxylation-Deficient Rickets, Type 1B |
|
Bowing of the legs, Bulging epiphyses, Metaphyseal irregularity, Sparse bone trabeculae, Recurren... |
OMIM:600081 |
Coccidioidomycosis |
|
Abnormality of the vertebral column, Pleural empyema, Pancreatitis, Skin rash, Cough, Osteomyelit... |
ORPHA:228123 |
Hypophosphatemic Rickets With Hypercalciuria, Hereditary |
|
Hypophosphatemic rickets, Fibular bowing, Rickets, Bowing of the legs, Bulging of the costochondr... |
OMIM:241530 |
Spastic Paraplegia 20, Autosomal Recessive |
|
Brachydactyly, Clinodactyly, Flexion contracture, Hammertoe, Lower limb muscle weakness, Pes cavu... |
OMIM:275900 |
Spondyloepimetaphyseal Dysplasia With Multiple Dislocations |
|
Genu varum, Scoliosis, Fragmented epiphyses, Genu valgum, Hip dislocation, Abnormal metatarsal mo... |
ORPHA:93360 |
Jeune Syndrome |
|
Brachydactyly, Toe syndactyly, Abnormality of the liver, Postaxial foot polydactyly, Micromelia, ... |
ORPHA:474 |
Bone Marrow Failure Syndrome 5 |
|
Testicular atrophy, Microcephaly, Anemia, Short stature, Pure red cell aplasia, Hypogonadism |
OMIM:618165 |
Acromesomelic Dysplasia 2B |
|
Brachydactyly, Deformed tarsal bones, Deviation of finger, Fibular hypoplasia, Rhizomelia, Short ... |
OMIM:228900 |
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia |
|
Hypothalamic gonadotropin-releasing hormone deficiency, Hypogonadotropic hypogonadism, Decreased ... |
OMIM:308700 |
Poikiloderma, Hereditary Fibrosing, With Tendon Contractures, Myopathy, And Pulmonary Fibrosis |
|
Hypohidrosis, Nail dysplasia, Hepatomegaly, Scoliosis, Pulmonary fibrosis, Alopecia, Delayed puberty |
OMIM:615704 |
Partial Chromosome Y Deletion |
|
Cryptorchidism, Abnormal spermatogenesis, Non-obstructive azoospermia, Oligospermia, Male inferti... |
ORPHA:1646 |
Occipital Horn Syndrome |
|
Carotid artery tortuosity, Coarse hair, Pes planus, Hydronephrosis, Osteoporosis, Broad clavicles... |
OMIM:304150 |
Hypophosphatasia, Childhood |
|
Bowing of the legs, Elevated plasma pyrophosphate, Craniosynostosis, Low alkaline phosphatase, El... |
OMIM:241510 |
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3 |
|
Flat capital femoral epiphysis, Flattened epiphysis, Moderately short stature, Osteopenia, Campto... |
OMIM:612350 |
Kyphomelic Dysplasia |
|
Bowing of the long bones, Missing ribs, Anterior rib cupping, Abnormal form of the vertebral bodi... |
ORPHA:1801 |
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia |
|
Gonadotropin deficiency, Hypogonadotropic hypogonadism, Osteopenia, Primary amenorrhea, Azoosperm... |
OMIM:614837 |
Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Dilated cardiomyopathy, Ventricular fibrillation, Pneumonia, Patent foramen ovale, Arrhythmia, Ve... |
ORPHA:26793 |
Cataract, Microcephaly, Failure To Thrive, Kyphoscoliosis Syndrome |
|
Kyphoscoliosis, Hip dislocation, Arthrogryposis multiplex congenita |
OMIM:212540 |
Mehmo Syndrome |
|
Hypoglycemia, Birth length less than 3rd percentile, Delayed puberty, Micropenis, Inability to wa... |
OMIM:300148 |
Vacterl/Vater Association |
|
Cryptorchidism, Hydronephrosis, Anorectal anomaly, Multicystic kidney dysplasia, Tracheal stenosi... |
ORPHA:887 |
Combined Oxidative Phosphorylation Deficiency 36 |
|
Failure to thrive, Hypoglycemia |
OMIM:617950 |
Classic Galactosemia |
|
Decreased fertility in females, Hypoglycemia, Primary amenorrhea, Cryptorchidism, Abnormal erythr... |
ORPHA:79239 |
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy |
|
Brachydactyly, Cupped ribs, Metaphyseal irregularity, Hypoplastic inferior ilia, Ovoid vertebral ... |
OMIM:608940 |
Brugada Syndrome |
|
ST segment elevation, Ventricular fibrillation, Cardiac arrest, Paroxysmal ventricular tachycardi... |
ORPHA:130 |
Osteogenesis Imperfecta, Type Xiii |
|
Increased bone mineral density, Skeletal muscle atrophy, Dislocated radial head, Long eyelashes, ... |
OMIM:614856 |
Alopecia-Mental Retardation Syndrome With Convulsions And Hypergonadotropic Hypogonadism |
|
Hypergonadotropic hypogonadism, Woolly hair, Woolly scalp hair, Alopecia |
OMIM:601217 |
Oliver-Mcfarlane Syndrome |
|
Hypogonadotropic hypogonadism, Long eyebrows, Delayed puberty, Long eyelashes, Cryptorchidism, Se... |
OMIM:275400 |
Werner Syndrome |
|
Premature arteriosclerosis, Abnormal hair morphology, Osteoporosis, Short stature, Diabetes melli... |
OMIM:277700 |
Pericardial And Diaphragmatic Defect |
|
Morphological abnormality of the gastrointestinal tract, Tetralogy of Fallot, Hypoxemia, Atrial s... |
ORPHA:2847 |
Osteopetrosis, Autosomal Dominant 1 |
|
Abnormality of pelvic girdle bone morphology, Thickened cortex of long bones, Generalized osteosc... |
OMIM:607634 |
Osteopetrosis, Autosomal Recessive 2 |
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Pancytopenia, Cranial hyperostosis, Diaphyseal sclerosis, Hepatosplenomegaly, Recurrent fractures... |
OMIM:259710 |
Long Qt Syndrome 14 |
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Sinus bradycardia, Ventricular fibrillation, Cardiac arrest, T-wave alternans, Prolonged QT inter... |
OMIM:616247 |
Familial Thyroid Dyshormonogenesis |
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Positive perchlorate discharge test, Delayed proximal femoral epiphyseal ossification, Reduced ra... |
ORPHA:95716 |
Addison Disease |
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Hypoglycemia, Orthostatic hypotension, Primary adrenal insufficiency, Hashimoto thyroiditis, Thym... |
ORPHA:85138 |
Sick Sinus Syndrome 4 |
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Abnormal QT interval, Sinus bradycardia, Paroxysmal atrial fibrillation, Chronotropic incompetenc... |
OMIM:619464 |
Osteochondrosis Of The Metatarsal Bone |
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Abnormality of the third metatarsal bone, Flattened metatarsal heads, Structural foot deformity, ... |
ORPHA:564003 |
Cerebellar Ataxia And Ectodermal Dysplasia |
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Sparse hair, Alopecia |
OMIM:212835 |
Sick Sinus Syndrome 1 |
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Sinus bradycardia, Sick sinus syndrome, Absent P wave, Prolonged QT interval, Atrioventricular bl... |
OMIM:608567 |
Symphalangism, Proximal, 1A |
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Aplasia/Hypoplasia of the middle phalanges of the toes, Carpal synostosis, Short 5th metacarpal, ... |
OMIM:185800 |
Hypohidrotic Ectodermal Dysplasia-Hypothyroidism-Ciliary Dyskinesia Syndrome |
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Hypothyroidism, Hypohidrosis, Dystrophic toenail, Sparse eyebrow, Fine hair, Alopecia, Ciliary dy... |
ORPHA:1882 |
Hypophosphatemic Rickets, Autosomal Recessive, 2 |
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Short stature, Hypophosphatemic rickets, Hyperphosphaturia, Medullary nephrocalcinosis |
OMIM:613312 |
Pseudoachondroplasia |
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Genu varum, Cone-shaped epiphysis, Scoliosis, Irregular carpal bones, Abnormality of femoral epip... |
ORPHA:750 |
Bare Lymphocyte Syndrome, Type I |
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Emphysema, Bronchiolitis, Recurrent bronchitis, Bronchiectasis, Chronic sinusitis |
OMIM:604571 |
Marfan Syndrome |
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Mitral regurgitation, Emphysema, Premature osteoarthritis, Flexion contracture, Aortic regurgitat... |
OMIM:154700 |
Basal Ganglia Calcification, Idiopathic, Childhood-Onset |
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Calcification of the small brain vessels, Limb joint contracture, Microcephaly, Short stature, De... |
OMIM:114100 |
Hypocalciuric Hypercalcemia, Familial, Type Iii |
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Multiple lipomas, Parathormone-independent increased renal tubular calcium reabsorption, Multiple... |
OMIM:600740 |
Langer Mesomelic Dysplasia |
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Bowing of the long bones, Abnormality of the ulna, Short femoral neck, Aplasia/Hypoplasia of the ... |
ORPHA:2632 |
Ossification Of The Posterior Longitudinal Ligament Of Spine |
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Ectopic ossification, Diabetes mellitus, Increased bone mineral density |
OMIM:602475 |
Chondrodysplasia Punctata 2, X-Linked Dominant |
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Patchy alopecia, Elevated 8-dehydrocholesterol, Hydronephrosis, Abnormal thorax morphology, Scoli... |
OMIM:302960 |
Weismann-Netter Syndrome |
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Bowing of the long bones, Abnormal hip bone morphology, Abnormality of the ulna, Tibial bowing, A... |
ORPHA:3344 |
Nemaline Myopathy 4 |
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Nemaline bodies, Flexion contracture, Skeletal muscle atrophy, Facial diplegia, Limb muscle weakn... |
OMIM:609285 |
Axial Spondylometaphyseal Dysplasia |
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Cupped ribs, Acromesomelia, Abnormal ilium morphology, Delayed ossification of carpal bones, Apla... |
ORPHA:168549 |
Ivic Syndrome |
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Absent thumb, Small thenar eminence, Carpal synostosis, Hypoplasia of the ulna, Limited interphal... |
OMIM:147750 |
Shwachman-Diamond Syndrome 1 |
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Enlargement of the costochondral junction, Anterior rib cupping, Ovoid vertebral bodies, Metaphys... |
OMIM:260400 |
Progressive Familial Intrahepatic Cholestasis |
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Short stature, Failure to thrive, Hypocalcemia, Reduced bone mineral density |
ORPHA:172 |
Congenital Disorder Of Glycosylation, Type Ih |
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Short neck, Intrauterine growth retardation, Patent ductus arteriosus, Low-set ears, Decreased li... |
OMIM:608104 |
Epiphyseal Dysplasia, Baumann Type |
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Metaphyseal irregularity, Hypoplasia of the femoral head, Pes planus, Clinodactyly of the 5th fin... |
OMIM:610797 |
Hidrotic Ectodermal Dysplasia |
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Small nail, Hypopigmentation of hair, Absent pubic hair, Slow-growing nails, Sparse eyebrow, Anon... |
ORPHA:189 |
Niemann-Pick Disease, Type B |
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Foam cells with lamellar inclusion bodies, Splenomegaly, Hepatomegaly, Dyspnea, Recurrent respira... |
OMIM:607616 |
Normosmic Congenital Hypogonadotropic Hypogonadism |
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Primary amenorrhea, Cryptorchidism, Osteoporosis, Generalized joint laxity, Impotence, Male hypog... |
ORPHA:432 |
Alopecia-Epilepsy-Oligophrenia Syndrome Of Moynahan |
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Sparse hair, Alopecia |
OMIM:203600 |
Vitamin D-Dependent Rickets, Type 2A |
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Alopecia universalis, Fibular bowing, Rickets, Bowing of the legs, Bulging of the costochondral j... |
OMIM:277440 |
Cardiomyopathy, Dilated, 1A |
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Dilated cardiomyopathy, Second degree atrioventricular block, Sinus bradycardia, Atrial flutter, ... |
OMIM:115200 |
Kyphoscoliosis-Lateral Tongue Atrophy-Hereditary Spastic Paraplegia Syndrome |
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Lower limb amyotrophy, Proximal muscle weakness in upper limbs, Knee flexion contracture, Upper l... |
ORPHA:496689 |
Non-Acquired Panhypopituitarism |
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Infertility, Hypoglycemia, Decreased response to growth hormone stimulation test, Decreased testi... |
ORPHA:90695 |
Alport Syndrome 3, Autosomal Dominant |
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Nephrocalcinosis, Nephrotic syndrome, Hematuria, Proteinuria, Glomerulonephritis, Thickened glome... |
OMIM:104200 |
Rajab Interstitial Lung Disease With Brain Calcifications 2 |
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Restrictive ventilatory defect, Cough, Joint hypermobility, Arachnodactyly, Scoliosis, Short stat... |
OMIM:619013 |
Earlobes, Thickened, With Conductive Deafness From Incudostapedial Abnormalities |
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Abnormality of the outer ear, Congenital conductive hearing impairment, Conductive hearing impair... |
OMIM:128980 |
Spondyloepimetaphyseal Dysplasia, Handigodu Type |
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Abnormality of the vertebral column, Severe short stature, Broad femoral neck, Disproportionate s... |
ORPHA:99642 |
Arthrogryposis, Renal Dysfunction, And Cholestasis 2 |
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Talipes calcaneovalgus, Renal tubular acidosis, Nephrocalcinosis, Low-set ears, Conjugated hyperb... |
OMIM:613404 |
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome |
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Low alkaline phosphatase, Central sleep apnea, Micrognathia, Scoliosis, Renal dysplasia, Abnormal... |
ORPHA:369837 |
Mucopolysaccharidosis-Plus Syndrome |
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Coarse hair, Proteinuria, Macroglossia, Metaphyseal widening, Recurrent pneumonia, Flexion contra... |
OMIM:617303 |
46,Xy Partial Gonadal Dysgenesis |
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Primary amenorrhea, Cryptorchidism, Elevated circulating luteinizing hormone level, Osteoporosis,... |
ORPHA:251510 |
Schwartz-Jampel Syndrome, Type 1 |
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Coronal cleft vertebrae, Pes planus, Osteoporosis, Micrognathia, Inguinal hernia, Abnormality of ... |
OMIM:255800 |
Parc Syndrome |
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Absent eyelashes, Alopecia, Absent eyebrow |
OMIM:600331 |
Spinal Muscular Atrophy, Ryukyuan Type |
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Pes cavus, Kyphoscoliosis, Spin |