Hypoplastic Femurs And Pelvis |
|
Short femur, Hypoplastic pelvis |
OMIM:619545 |
Coxa Vara |
|
Coxa vara |
OMIM:122750 |
Hypoparathyroidism, Familial Isolated, 2 |
|
Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures |
OMIM:618883 |
Upington Disease |
|
Flat capital femoral epiphysis, Premature epimetaphyseal fusion, Broad femoral neck, Arthralgia o... |
ORPHA:3408 |
Blount Disease, Infantile |
|
Genu varum, Abnormality of the proximal tibial epiphysis |
OMIM:188700 |
Rhizomelic Dysplasia, Ain-Naz Type |
|
Short humerus, Short femur, Rhizomelia, Hypoplasia of the femoral head, Wide distal femoral metap... |
OMIM:619598 |
Upington Disease |
|
Flattened femoral head, Broad femoral neck, Arthralgia of the hip |
OMIM:191520 |
Syndactyly Type 4 |
|
1-5 finger syndactyly, Toe syndactyly, Camptodactyly of finger, 6 metacarpals, Hand polydactyly, ... |
ORPHA:93405 |
Pseudohypoparathyroidism, Type Ii |
|
Hyperphosphatemia, Hypocalcemia |
OMIM:203330 |
Rhizomelic Chondrodysplasia Punctata, Type 3 |
|
Short humerus, Short femur, Rhizomelia, Epiphyseal stippling |
OMIM:600121 |
Tibia, Hypoplasia Or Aplasia Of, With Polydactyly |
|
Short tibia, Preaxial polydactyly, Triphalangeal thumb, Absent tibia, Fibular duplication |
OMIM:188740 |
Mesomelic Dwarfism Of Hypoplastic Tibia And Radius Type |
|
Short tibia, Hypoplasia of the radius, Pseudoarthrosis |
OMIM:156230 |
Osteodysplasty, Precocious, Of Danks, Mayne, And Kozlowski |
|
Abnormal long bone morphology, Short toe, Short finger, Abnormal pelvic girdle bone morphology |
OMIM:259270 |
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome |
|
Syndactyly, Hand oligodactyly, Tibial bowing, Foot oligodactyly, Short tibia, Fibular aplasia |
OMIM:246570 |
Gollop-Wolfgang Complex |
|
Hand monodactyly, Bifid femur, Aplasia/Hypoplasia of the ulna, Ectrodactyly, Aplasia/Hypoplasia o... |
ORPHA:1986 |
Acromesomelic Dysplasia 2C |
|
Hypoplasia of the ulna, Shortening of all middle phalanges of the fingers, Radial bowing, Cuboida... |
OMIM:201250 |
Tibial Torsion, Bilateral Medial |
|
Bowing of the legs, Tibial torsion |
OMIM:188800 |
Sinoatrial Node Dysfunction And Deafness |
|
Increased heart rate variability, Abnormal QRS complex, Syncope, Bradycardia |
OMIM:614896 |
Pseudopseudohypoparathyroidism |
|
Short stature, Short distal phalanx of the 3rd finger, Ectopic ossification, Short metatarsal, Ob... |
ORPHA:79445 |
Adamantinoma |
|
Hypercalcemia |
ORPHA:55881 |
Ulna Metaphyseal Dysplasia Syndrome |
|
Hypercalcemia |
OMIM:191420 |
Acromesomelic Dysplasia 2A |
|
Hypoplasia of the ulna, Short humerus, Short femur, Aplasia/Hypoplasia of the patella, Postaxial ... |
OMIM:200700 |
Hyperinsulinemic Hypoglycemia, Familial, 7 |
|
Hypoglycemia, Hyperinsulinemia, Hypoglycemic seizures, Pancreatic islet-cell hyperplasia, Hyperin... |
OMIM:610021 |
Osteopathia Striata-Pigmentary Dermopathy-White Forelock Syndrome |
|
Osteopathia striata, Abnormal pelvic girdle bone morphology, Abnormal diaphysis morphology, Abnor... |
ORPHA:2779 |
Diastrophic Dysplasia |
|
Cervical kyphosis, Hypertrophic auricular cartilage, Neonatal short-limb short stature, Hypoplast... |
OMIM:222600 |
Chondrodysplasia Punctata, Tibia-Metacarpal Type |
|
Micromelia, Epiphyseal stippling, Short long bone, Short 3rd metacarpal, Limb undergrowth, Short ... |
OMIM:118651 |
Blue Diaper Syndrome |
|
Nephrocalcinosis, Abnormal circulating tryptophan concentration, Hypercalcemia |
OMIM:211000 |
Pseudoachondroplasia |
|
Genu recurvatum, Spatulate ribs, Delayed epiphyseal ossification, Metaphyseal widening, Fragmente... |
OMIM:177170 |
Metatropic Dysplasia |
|
Abnormal metaphyseal vascular invasion, Flexion contracture, Long coccyx, Halberd-shaped pelvis, ... |
OMIM:156530 |
Dyggve-Melchior-Clausen Disease |
|
Glenoid fossa hypoplasia, Short neck, Coxa vara, Pectus carinatum, Broad ribs, Rhizomelia, Iliac ... |
ORPHA:239 |
Coxopodopatellar Syndrome |
|
Abnormality of the knee, Aplasia/Hypoplasia of the patella, Abnormal pelvic girdle bone morpholog... |
ORPHA:1509 |
Hypercalcemia, Infantile, 2 |
|
Polyuria, Hypercalcemia, Hypercalciuria, Renal phosphate wasting, Nephrocalcinosis, Hypophosphate... |
OMIM:616963 |
Metaphyseal Anadysplasia 2 |
|
Micromelia, Bowing of the legs, Metaphyseal widening, Short femoral neck, Metaphyseal irregularit... |
OMIM:613073 |
Chromosome 17Q23.1-Q23.2 Duplication Syndrome |
|
Coxa valga, Genu valgum, Hip dysplasia, Talipes equinovarus, Acetabular dysplasia |
OMIM:613618 |
Hyperparathyroidism 1 |
|
Hypercalcemia |
OMIM:145000 |
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency |
|
Short attention span, Short stature, Elevated circulating thyroid-stimulating hormone concentrati... |
ORPHA:171706 |
Atrial Fibrillation, Familial, 18 |
|
Paroxysmal atrial fibrillation, First degree atrioventricular block, Permanent atrial fibrillatio... |
OMIM:617280 |
Hypocalcemia, Autosomal Dominant 2 |
|
Abnormal blood phosphate concentration, Hypocalcemia |
OMIM:615361 |
Langer Mesomelic Dysplasia |
|
Hypoplasia of the ulna, Radial bowing, Micrognathia, Hypoplasia of the radius, Short femoral neck... |
OMIM:249700 |
Hypocalcemia, Autosomal Dominant 1 |
|
Short stature, Hypercalciuria, Nephrolithiasis, Nephrocalcinosis, Hypokalemia, Hyperphosphatemia,... |
OMIM:601198 |
Mesomelic Dysplasia, Savarirayan Type |
|
Abnormal foot morphology, Talipes equinovalgus, Hip dislocation, Mesomelia, Short tibia, Dislocat... |
OMIM:605274 |
Autosomal Dominant Brachyolmia |
|
Short stature, Kyphoscoliosis, Increased vertebral height, Short thorax, Platyspondyly, Abnormal ... |
ORPHA:93304 |
Ischiocoxopodopatellar Syndrome With Or Without Pulmonary Arterial Hypertension |
|
Pes planus, Short femur, Sandal gap, Tarsal synostosis, Wide capital femoral epiphyses, Micrognat... |
OMIM:147891 |
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland |
|
Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures, Hypomagnesemia |
ORPHA:2239 |
Blount Disease |
|
Abnormality of the knee, Abnormality of the proximal tibial epiphysis, Abnormal tibial metaphysis... |
ORPHA:2768 |
Osebold-Remondini Syndrome |
|
Dysplastic distal radial epiphyses, Broad toe, Hypoplasia of the ulna, Tarsal synostosis, Type A ... |
OMIM:112910 |
Emphysema, Hereditary Pulmonary |
|
Emphysema, Chronic pulmonary obstruction, Chronic bronchitis |
OMIM:130700 |
Acromesomelic Dysplasia, Grebe Type |
|
Aplasia/Hypoplasia of the thumb, Bowing of the long bones, Brachydactyly, Tarsal synostosis, Micr... |
ORPHA:2098 |
Short Stature Due To Ghsr Deficiency |
|
Decreased serum insulin-like growth factor 1, Short stature, Hypoglycemia, Abnormality of body we... |
ORPHA:314811 |
Hyperinsulinemic Hypoglycemia, Familial, 2 |
|
Nesidioblastosis, Hypoglycemia, Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia |
OMIM:601820 |
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis |
|
Renal insufficiency, Short stature, Hypercalciuria, Hypophosphatemia, Nephrocalcinosis, Focal seg... |
OMIM:308990 |
Beukes Hip Dysplasia |
|
Flat capital femoral epiphysis, Avascular necrosis of the capital femoral epiphysis, Hip dysplasi... |
OMIM:142669 |
Hypoparathyroidism, Familial Isolated, 1 |
|
Nephrocalcinosis, Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures |
OMIM:146200 |
Bronchopulmonary Dysplasia |
|
Respiratory distress, Central apnea, Respiratory failure requiring assisted ventilation, Right ve... |
ORPHA:70589 |
Epiphyseal Dysplasia, Multiple, With Severe Proximal Femoral Dysplasia |
|
Epiphyseal dysplasia, Flat distal femoral epiphysis, Proximal femoral metaphyseal irregularity, C... |
OMIM:609324 |
Spondylo-Megaepiphyseal-Metaphyseal Dysplasia |
|
Back pain, Enlarged epiphyses, Proximal placement of thumb, Short neck, Flexion contracture, Coxa... |
OMIM:613330 |
Hypercalcemia, Infantile, 1 |
|
Polyuria, Hypercalcemia, Nephrolithiasis, Hypercalciuria, Nephrocalcinosis, Lethargy, Medullary n... |
OMIM:143880 |
Spondylometaphyseal Dysplasia, Corner Fracture Type |
|
Short stature, Ovoid vertebral bodies, Hypoplasia of the odontoid process, Coxa vara, Pectus cari... |
OMIM:184255 |
Acheiropody |
|
Carpal bone aplasia, Short humerus, Peromelia, Aplasia of the phalanges of the hand, Aplasia of t... |
OMIM:200500 |
Fibrochondrogenesis |
|
Hypoplastic scapulae, Short stature, Camptodactyly of finger, Micromelia, Short neck, Hearing abn... |
ORPHA:2021 |
Brachyolmia Type 1, Toledo Type |
|
Back pain, Broad tibial metaphyses, Kyphoscoliosis, Short neck, Childhood-onset short-trunk short... |
OMIM:271630 |
Hemochromatosis, Type 1 |
|
Hepatomegaly, Alopecia, Diabetes mellitus, Hypogonadotropic hypogonadism, Increased circulating f... |
OMIM:235200 |
Gaucher Disease |
|
Osteopenia, Osteoarthritis, Cherry red spot of the macula, Hepatomegaly, Increased bone mineral d... |
ORPHA:355 |
Retinal Dysplasia, Primary |
|
Retinal dysplasia, Falciform retinal fold |
OMIM:312550 |
Mucopolysaccharidosis, Type Vii |
|
Spatulate ribs, Short neck, Thoracolumbar kyphosis, Flexion contracture, Pectus carinatum, Coarse... |
OMIM:253220 |
Mucopolysaccharidosis Type 6 |
|
Epiphyseal dysplasia, Sinusitis, Ovoid vertebral bodies, Joint stiffness, Short neck, Kyphosis, R... |
ORPHA:583 |
Dysosteosclerosis |
|
Osteopenia, Sclerosis of hand bone, Micrognathia, Increased intervertebral space, Absent frontal ... |
OMIM:224300 |
Renal Tubular Acidosis, Distal, With Nephrocalcinosis, Short Stature, Impaired Intellectual Development, And Distinctive Facies |
|
Short stature, Proteinuria, Renal hypoplasia, Beta 2-microglobulinuria, Scoliosis, Renal cortical... |
OMIM:611555 |
Gaucher Disease Type 3 |
|
Recurrent respiratory infections, Increased bone mineral density, Mitral valve calcification, Abn... |
ORPHA:77261 |
Idiopathic Bronchiectasis |
|
Myocardial infarction, Crackles, Respiratory tract infection, Dyspnea, Wheezing, Productive cough... |
ORPHA:60033 |
Acrocapitofemoral Dysplasia |
|
Micromelia, Short proximal phalanx of thumb, Coxa vara, Pectus carinatum, Narrow chest, Short pal... |
OMIM:607778 |
Ventricular Tachycardia, Catecholaminergic Polymorphic, 2 |
|
Polymorphic ventricular tachycardia, Syncope, Ventricular tachycardia, Bradycardia |
OMIM:611938 |
Tibial Aplasia-Ectrodactyly Syndrome |
|
Finger syndactyly, Short femur, Preaxial hand polydactyly, Postaxial hand polydactyly, Split hand... |
ORPHA:3329 |
Epilepsy, Idiopathic Generalized, Susceptibility To, 18 |
|
Bradycardia |
OMIM:619521 |
Alopecia Areata 2 |
|
Alopecia of scalp, Patchy alopecia, Alopecia totalis, Alopecia universalis |
OMIM:610753 |
Atypical Werner Syndrome |
|
Sclerosis of hand bone, Abnormal cerebral vascular morphology, Fasting hyperinsulinemia, Reduced ... |
ORPHA:79474 |
Osteogenesis Imperfecta, Type X |
|
Osteopenia, Respiratory distress, Thoracic scoliosis, Micromelia, Micrognathia, Generalized joint... |
OMIM:613848 |
Pseudohypoparathyroidism, Type Ib |
|
Hyperphosphatemia, Hypocalcemia |
OMIM:603233 |
Vitamin D-Dependent Rickets, Type 3 |
|
Osteopenia, Bowing of the legs, Flared metaphysis, Growth delay, Hypocalcemia, Hypophosphatemia, ... |
OMIM:619073 |
Blue Diaper Syndrome |
|
Nephrocalcinosis, Blue urine, Hyperphosphatemia, Hypercalcemia |
ORPHA:94086 |
Pulmonary Alveolar Microlithiasis |
|
Bronchitis, Nonproductive cough, Tachypnea, Gonadal calcification, Oxygen desaturation on exertio... |
ORPHA:60025 |
Epiphyseal Dysplasia, Multiple, 5 |
|
Epiphyseal dysplasia, Short metacarpal, Coxa vara, Genu valgum, Irregular epiphyses, Small epiphy... |
OMIM:607078 |
Paget Disease Of Bone 5, Juvenile-Onset |
|
Osteopenia, Barrel-shaped chest, Increased bone mineral density, Short stature, Ankylosis, Hydrox... |
OMIM:239000 |
Lethal Faciocardiomelic Dysplasia |
|
Microretrognathia, Hypoplasia of the ulna, Sandal gap, Radial club hand, Short thumb, Hypoplasia ... |
ORPHA:1972 |
Hypotrichosis Simplex |
|
Sparse scalp hair, Alopecia, Sparse eyelashes, Sparse eyebrow, Sparse hair, Sparse body hair |
ORPHA:55654 |
Epiphyseal Dysplasia, Multiple, 7 |
|
Epiphyseal dysplasia, Monkey wrench femoral neck, Advanced ossification of carpal bones, Flat ace... |
OMIM:617719 |
Gm1 Gangliosidosis Type 1 |
|
Spatulate ribs, Pectus carinatum, Hypoplastic vertebral bodies, Flattened femoral head, Decreased... |
ORPHA:79255 |
Generalized Arterial Calcification Of Infancy |
|
Respiratory distress, Cerebral calcification, Medial calcification of large arteries, Adrenal cal... |
ORPHA:51608 |
Dent Disease 2 |
|
Short stature, Elevated circulating creatine kinase concentration, Chronic kidney disease, Hyperc... |
OMIM:300555 |
Granulomatous Slack Skin |
|
Nephrocalcinosis, Acute kidney injury, Hypercalcemia |
ORPHA:33111 |
Congenital Disorder Of Glycosylation, Type Iik |
|
Joint laxity, Epiphyseal dysplasia, Metaphyseal dysplasia, Posteriorly rotated ears, Elevated cir... |
OMIM:614727 |
Myotonia With Skeletal Abnormalities And Mental Retardation |
|
Short stature, Kyphoscoliosis, Irregular femoral epiphysis, Vertebral wedging, Pectus carinatum, ... |
OMIM:255710 |
Spondylometaphyseal Dysplasia, Kozlowski Type |
|
Irregular, rachitic-like metaphyses, Short neck, Coxa vara, Pectus carinatum, Halberd-shaped pelv... |
OMIM:184252 |
Hypomagnesemia 1, Intestinal |
|
Hypocalcemia, Hypomagnesemia |
OMIM:602014 |
Pseudohypoparathyroidism Type 1C |
|
Cerebral calcification, Decreased response to growth hormone stimulation test, Reduced circulatin... |
ORPHA:79444 |
Craniometadiaphyseal Dysplasia, Wormian Bone Type |
|
Osteopenia, Increased bone mineral density, Broad femoral neck, Short tubular bones of the hand, ... |
ORPHA:85184 |
Alopecia Universalis Congenita |
|
Absent eyebrow, Absent eyelashes, Absent pubic hair, Absent axillary hair, Alopecia universalis |
OMIM:203655 |
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis |
|
Micrognathia, Irregular vertebral endplates, Knee dislocation, Microretrognathia, Short stature, ... |
OMIM:618363 |
Lethal Congenital Contracture Syndrome 10 |
|
Omphalocele, Thoracic scoliosis, Stiff neck, Overlapping fingers, Torticollis, Overriding aorta, ... |
OMIM:617022 |
Hypotrichosis 4 |
|
Sparse scalp hair, Alopecia, Sparse eyelashes, Sparse eyebrow, Uncombable hair, Sparse body hair |
OMIM:146550 |
Pseudohypoparathyroidism Type 1B |
|
Calcinosis, Prolonged QT interval, Increased bone mineral density, Short stature, Decreased respo... |
ORPHA:94089 |
Hyperinsulinism Due To Insr Deficiency |
|
Hypoglycemia, Insulin resistance, Fasting hyperinsulinemia, Recurrent hypoglycemia, Hyperinsuline... |
ORPHA:263458 |
Craniometadiaphyseal Dysplasia |
|
Osteopenia, Broad long bones, Short stature, Coxa valga, Wide anterior fontanel, Flared metaphysi... |
OMIM:269300 |
Pseudohypoparathyroidism Type 1A |
|
Cerebral calcification, Decreased response to growth hormone stimulation test, Reduced circulatin... |
ORPHA:79443 |
Parathyroid Carcinoma |
|
Hypercalcemia |
OMIM:608266 |
Leri-Weill Dyschondrosteosis |
|
Hypoplasia of the ulna, Radial bowing, Abnormal femoral neck morphology, Dorsal subluxation of ul... |
OMIM:127300 |
Pituitary Hormone Deficiency, Combined, 4 |
|
Pituitary dwarfism, Short stature, Hypoglycemia, Severe postnatal growth retardation, Adrenal ins... |
OMIM:262700 |
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies |
|
Osteopenia, Hypospadias, Decreased response to growth hormone stimulation test, Adrenal hypoplasi... |
OMIM:614732 |
Alopecia Areata 1 |
|
Trachyonychia, Alopecia totalis, Nail pits, Patchy alopecia, Alopecia universalis |
OMIM:104000 |
Oculoskeletodental Syndrome |
|
Metaphyseal dysplasia, Short stature, Hypercalcemia, Hyperlordosis, Sensorineural hearing impairm... |
ORPHA:557003 |
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome) |
|
Hypocalcemia |
DECIPHER:16 |
Femoral-Facial Syndrome |
|
Maternal diabetes, Micrognathia, Coxa vara, Vertebral segmentation defect, Aplasia/Hypoplasia of ... |
ORPHA:1988 |
Alpha-1-Antitrypsin Deficiency |
|
Chronic bronchitis, Hepatocellular carcinoma, Splenomegaly, Dyspnea, Chronic pulmonary obstructio... |
OMIM:613490 |
Laurin-Sandrow Syndrome |
|
Syndactyly, Absent radius, Patellar aplasia, Short foot, Hand polydactyly, Triphalangeal thumb, B... |
OMIM:135750 |
Léri-Weill Dyschondrosteosis |
|
Micromelia, Abnormal tibia morphology, Abnormal carpal morphology, Abnormal femur morphology, Tib... |
ORPHA:240 |
Tibial Hemimelia |
|
Absent tibia |
OMIM:275220 |
Aphalangia, Partial, With Syndactyly And Duplication Of Metatarsal Iv |
|
Syndactyly, Short stature, Kyphoscoliosis, Aplasia/Hypoplasia of toe, Duplication of metatarsal b... |
OMIM:600384 |
Hypoinsulinemic Hypoglycemia With Hemihypertrophy |
|
Neonatal hypoglycemia, Hypoglycemia, Hypoinsulinemia, Fasting hypoglycemia |
OMIM:240900 |
Femur, Unilateral Bifid, With Monodactylous Ectrodactyly |
|
Aplasia of the ulna, Split hand, Bifid femur, Hand monodactyly, Absent tibia, Foot monodactyly |
OMIM:228250 |
Hypophosphatasia, Infantile |
|
Apnea, Micromelia, Bowing of the legs, Nephrocalcinosis, Intracranial hemorrhage, Unossified vert... |
OMIM:241500 |
Tibial Hemimelia-Polysyndactyly-Triphalangeal Thumb Syndrome |
|
Aplasia/Hypoplasia of the thumb, Patellar aplasia, Abnormal fibula morphology, Aplasia/Hypoplasia... |
ORPHA:988 |
Short Stature Due To Partial Ghr Deficiency |
|
Decreased serum insulin-like growth factor 1, Hypoglycemia, Delayed puberty |
ORPHA:314802 |
Mandibuloacral Dysplasia Progeroid Syndrome |
|
Osteopenia, Flexion contracture, Glucose intolerance, Macrovesicular hepatic steatosis, Patent fo... |
OMIM:619127 |
Mucopolysaccharidosis, Type Vi |
|
Metaphyseal widening, Flexion contracture, Pectus carinatum, Hypoplastic iliac wing, Broad ribs, ... |
OMIM:253200 |
Spondyloepiphyseal Dysplasia, Stanescu Type |
|
Short stature, Kyphoscoliosis, Coxa valga, Hypoplastic ilia, Vertebral wedging, Platyspondyly, In... |
OMIM:616583 |
Symptomatic Form Of Hfe-Related Hemochromatosis |
|
Decreased muscle mass, Hepatocellular carcinoma, Stiff interphalangeal joints, Hyperglycemia, Let... |
ORPHA:465508 |
Long Qt Syndrome 15 |
|
Ventricular ectopy, 2:1 atrioventricular block, Cardiac arrest, Polymorphic ventricular tachycard... |
OMIM:616249 |
Hutchinson-Gilford Progeria Syndrome |
|
Myocardial infarction, Osteoarthritis, Reduced bone mineral density, Intracranial hemorrhage, Lim... |
ORPHA:740 |
Mucopolysaccharidosis, Type X |
|
Irregular acetabular roof, Spatulate ribs, Broad clavicles, Hyperlordosis, Disproportionate short... |
OMIM:619698 |
Nephrolithiasis, X-Linked Recessive, With Renal Failure |
|
Renal insufficiency, Chronic kidney disease, Hypercalciuria, Nephrolithiasis, Nephrocalcinosis, P... |
OMIM:310468 |
Hyperinsulinemic Hypoglycemia, Familial, 5 |
|
Elevated circulating insulin:C-peptide ratio, Fasting hyperinsulinemia, Hypoglycemic seizures, Hy... |
OMIM:609968 |
Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development |
|
Hypoplasia of the ulna, Short femur, Absent thumb, Fibular hypoplasia, Aplasia/Hypoplasia of the ... |
OMIM:612447 |
Allergic Bronchopulmonary Aspergillosis |
|
Abnormal fingernail morphology, Asthma, Bronchiectasis, Respiratory insufficiency, Cough, Pulmona... |
ORPHA:1164 |
Fibular Hemimelia |
|
Bowing of the legs, Structural foot deformity, Tibial bowing, Increased laxity of ankles, Foot ol... |
ORPHA:93323 |
Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Osteopenia, Micrognathia, Flexion contracture, Hyperglycemia, Calcinosis, Alopecia, Short clavicl... |
OMIM:248370 |
Mucolipidosis Iii Alpha/Beta |
|
Soft tissue swelling of interphalangeal joints, Short stature, Increased serum beta-hexosaminidas... |
OMIM:252600 |
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome |
|
Respiratory tract infection, Nonproductive cough, Dyspnea, Chronic pulmonary obstruction, Hyperse... |
ORPHA:79127 |
Spondylometaphyseal Dysplasia, Type A4 |
|
Metaphyseal widening, Pectus carinatum, Narrow greater sciatic notch, Osteoporotic tarsals, Enlar... |
OMIM:609052 |
Nemaline Myopathy 5B, Autosomal Recessive, Childhood-Onset |
|
Hip contracture, Elevated circulating creatine kinase concentration, Kyphoscoliosis, Spinal rigid... |
OMIM:620386 |
Spondyloepimetaphyseal Dysplasia, Isidor-Toutain Type |
|
Severe short stature, Upper-limb metaphyseal irregularity, Lower-limb metaphyseal irregularity, P... |
OMIM:618728 |
Brachyolmia Type 1, Hobaek Type |
|
Back pain, Osteopenia, Sclerotic foci of metaphyses of the elbow, Flattened proximal radial epiph... |
OMIM:271530 |
Lmna-Related Cardiocutaneous Progeria Syndrome |
|
Ventricular hypertrophy, Mitral valve calcification, Lipoatrophy, Congestive heart failure, Emphy... |
ORPHA:363618 |
Mesomelic Dysplasia, Savarirayan Type |
|
Broad tibial metaphyses, Bowing of the long bones, Glenoid fossa hypoplasia, Hip dislocation, Hig... |
ORPHA:85170 |
Isolated Growth Hormone Deficiency, Type Ia |
|
Decreased serum insulin-like growth factor 1, Hypoglycemia, Reduced circulating growth hormone co... |
OMIM:262400 |
Hypotrichosis 11 |
|
Sparse or absent eyelashes, Alopecia universalis, Absent axillary hair, Sparse hair, Aplasia/Hypo... |
OMIM:615059 |
Metaphyseal Chondrodysplasia, Schmid Type |
|
Broad proximal phalanges of the hand, Short tubular bones of the hand, Bowing of the legs, Proxim... |
ORPHA:174 |
Werner Syndrome |
|
Skeletal muscle atrophy, Abnormal cerebral vascular morphology, Myocardial infarction, Abnormal h... |
ORPHA:902 |
Familial Short Qt Syndrome |
|
Atrial fibrillation, Sudden cardiac death, Shortened QT interval, Atrioventricular block, Syncope... |
ORPHA:51083 |
Spondyloepimetaphyseal Dysplasia, Missouri Type |
|
Knee osteoarthritis, Flared metaphysis, Flattened epiphysis, Tibial bowing, Femoral bowing, Small... |
ORPHA:93356 |
Epiphyseal Dysplasia, Multiple, 4 |
|
Epiphyseal dysplasia, Short metacarpal, Hypoplasia of the femoral head, Flat capital femoral epip... |
OMIM:226900 |
Pseudohypoparathyroidism, Type Ic |
|
Short metacarpal, Short stature, Osteoporosis, Short metatarsal, Obesity, Hyperphosphatemia, Hypo... |
OMIM:612462 |
Pseudohypoparathyroidism Type 2 |
|
Calcinosis, Hyperphosphatemia, Hypocalcemia, Hypocalcemic tetany, Hypocalcemic seizures |
ORPHA:94090 |
Marfan Syndrome |
|
Osteopenia, Pulmonary artery dilatation, Mitral valve calcification, Arthralgia/arthritis, Sponta... |
ORPHA:558 |
3-Hydroxy-3-Methylglutaryl-Coa Synthase Deficiency |
|
Hypoglycemia |
ORPHA:35701 |
Alopecia Universalis |
|
Absent eyelashes, Absent eyebrow, Patchy alopecia, Alopecia universalis |
ORPHA:701 |
Rhabdoid Tumor |
|
Renal neoplasm, Hypercalcemia, Thrombocytopenia, Respiratory insufficiency, Lymphadenopathy, Hema... |
ORPHA:69077 |
Pseudohypoparathyroidism, Type Ia |
|
Short metacarpal, Short stature, Short toe, Short metatarsal, Osteoporosis, Obesity, Subcutaneous... |
OMIM:103580 |
Brachyolmia Type 4 With Mild Epiphyseal And Metaphyseal Changes |
|
Short stature, Kyphoscoliosis, Bowing of the legs, Irregular vertebral endplates, Platyspondyly, ... |
OMIM:612847 |
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome |
|
Hypogonadotropic hypogonadism, Ataxia, Acute rhabdomyolysis, Camptodactyly of finger, Short statu... |
ORPHA:48431 |
Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy |
|
Hyponatremia, Polyuria, Nephrocalcinosis, Hypokalemia, Hypocalcemia, Hypomagnesemia |
OMIM:620152 |
Singleton-Merten Syndrome 2 |
|
Osteopenia, Short stature, Aortic valve calcification, Osteolytic defects of the phalanges of the... |
OMIM:616298 |
Parastremmatic Dwarfism |
|
Bowing of the long bones, Severe short stature, Short neck, Kyphosis, Flexion contracture, Genu v... |
OMIM:168400 |
Isolated Glycerol Kinase Deficiency |
|
Adrenocortical hypoplasia, Short stature, Elevated circulating creatine kinase concentration, Hyp... |
ORPHA:408 |
Hypophosphatasia |
|
Bowing of the long bones, Short stature, Recurrent fractures, Craniosynostosis, Hypercalcemia, Em... |
ORPHA:436 |
Spondyloepiphyseal Dysplasia Congenita |
|
Back pain, Short neck, Micrognathia, Reduced bone mineral density, Barrel-shaped chest, Abnormall... |
ORPHA:94068 |
Hyperparathyroidism, Neonatal Self-Limited Primary, With Hypercalciuria |
|
Nephrocalcinosis, Renal tubular acidosis, Hypercalcemia, Hypercalciuria |
OMIM:239199 |
Congenital Glucokinase-Related Hyperinsulinism |
|
Fasting hyperinsulinemia, Recurrent hypoglycemia, Type II diabetes mellitus, Hyperinsulinemic hyp... |
ORPHA:79299 |
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Osteopenia, Beaded ribs, Multiple prenatal fractures, Micrognathia, Short neck, Flexion contractu... |
OMIM:616897 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 4 |
|
Ventricular hypertrophy, Hepatomegaly, Apnea, Elevated circulating aspartate aminotransferase con... |
OMIM:619048 |
Primary Hypomagnesemia-Refractory Seizures-Intellectual Disability Syndrome |
|
Episodic hypokalemia, Renal magnesium wasting, Nephrocalcinosis, Hypomagnesemia, Renal potassium ... |
ORPHA:564178 |
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 |
Endove Syndrome, Limb-Only Type |
|
Short middle phalanx of the 2nd finger, Fibular hypoplasia, Disproportionate shortening of the ti... |
OMIM:619217 |
Eiken Syndrome |
|
Abnormal trabecular bone morphology, Epiphyseal dysplasia, Abnormal acetabulum morphology, Abnorm... |
ORPHA:79106 |
Pparg-Related Familial Partial Lipodystrophy |
|
Dysmenorrhea, Maternal diabetes, Prominent veins on trunk, Hepatic steatosis, Generalized hirsuti... |
ORPHA:79083 |
Schimke Immunoosseous Dysplasia |
|
Osteopenia, Short neck, Bilateral cryptorchidism, Elevated circulating thyroid-stimulating hormon... |
OMIM:242900 |
Timothy Syndrome |
|
Prolonged QT interval, Ventricular septal defect, Pneumonia, Bronchitis, Cardiomegaly, Hypothermi... |
OMIM:601005 |
Hyperphosphatasia With Impaired Intellectual Development Syndrome 6 |
|
Osteopenia, Elevated circulating creatine kinase concentration, Short neck, Knee flexion contract... |
OMIM:616809 |
Congenital Lobar Emphysema |
|
Respiratory distress, Emphysema |
ORPHA:1928 |
Metaphyseal Chondrodysplasia, Schmid Type |
|
Metaphyseal chondrodysplasia, Metaphyseal widening, Coxa vara, Femoral bowing, Metaphyseal cuppin... |
OMIM:156500 |
Rothmund-Thomson Syndrome, Type 1 |
|
Absent eyebrow, Premature ovarian insufficiency, Short stature, Thin nail, Absent eyelashes, Oste... |
OMIM:618625 |
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency |
|
Cardiomyopathy, Hypoglycemia, Hepatomegaly |
OMIM:609016 |
Renal Tubular Acidosis, Distal, 1 |
|
Impaired urinary acidification, Elevated circulating creatinine concentration, Nephrolithiasis, N... |
OMIM:179800 |
Eiken Syndrome |
|
Short stature, Broad femoral neck, Delayed epiphyseal ossification, Long thumb, Flat acetabular r... |
OMIM:600002 |
Malignant Hyperthermia, Susceptibility To, 2 |
|
Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration |
OMIM:154275 |
Alkaptonuria |
|
Mitral valve calcification, Abnormal heart valve morphology, Myocardial infarction, Joint stiffne... |
ORPHA:56 |
Sanjad-Sakati Syndrome |
|
Low-set, posteriorly rotated ears, Recurrent respiratory infections, Hypoplasia of penis, Short s... |
ORPHA:2323 |
Microcephaly-Brachydactyly-Kyphoscoliosis Syndrome |
|
Decreased muscle mass, Short stature, Broad hallux, Kyphoscoliosis, Low-set ears, Atlantoaxial ab... |
ORPHA:3433 |
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs |
|
Respiratory distress, Hypothermia, Delayed epiphyseal ossification, Elevated circulating thyroid-... |
ORPHA:226313 |
Cantú Syndrome |
|
Short neck, Low anterior hairline, Narrow chest, Broad ribs, Generalized hirsutism, Finger syndac... |
ORPHA:1517 |
Rothmund-Thomson Syndrome Type 1 |
|
Osteopenia, Aplastic anemia, Neutropenia, Sparse hair, Hypothyroidism, Calcinosis, Premature ovar... |
ORPHA:221008 |
Epiphyseal Dysplasia, Multiple, With Miniepiphyses |
|
Epiphyseal dysplasia, Genu varum, Patellar hypoplasia, Short femoral neck, Broad femoral neck, Ir... |
OMIM:609325 |
Metaphyseal Chondrodysplasia, Jansen Type |
|
Osteopenia, Hip contracture, Bowing of the long bones, Severe short stature, Hyperphosphaturia, H... |
OMIM:156400 |
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7 |
|
Osteopenia, Portal hypertension, Cryptorchidism, Thrombocytopenia, Pulmonary fibrosis, Type I dia... |
OMIM:620365 |
Metaphyseal Dysplasia Without Hypotrichosis |
|
Metaphyseal dysplasia, Short metacarpal, Cone-shaped epiphyses of the phalanges of the hand, Meta... |
OMIM:250460 |
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy |
|
Accelerated atherosclerosis, Decreased HDL cholesterol concentration, Dysmenorrhea, Precocious at... |
ORPHA:280365 |
Graham Little-Piccardi-Lassueur Syndrome |
|
Sparse pubic hair, Sparse scalp hair, Alopecia, Sparse axillary hair |
ORPHA:505 |
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome |
|
Finger syndactyly, Short stature, Abnormal rib morphology, Pectus carinatum, Radioulnar synostosi... |
ORPHA:3268 |
Hyperparathyroidism 4 |
|
Hypercalcemia |
OMIM:617343 |
Familial Isolated Hyperparathyroidism |
|
Renal insufficiency, Hyperphosphaturia, Hypercalcemia, Hypercalciuria, Nephrocalcinosis, Hypophos... |
ORPHA:99879 |
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy |
|
Atrial flutter, Tachycardia, Atrial fibrillation, Cardiac arrest, Congestive heart failure, Dilat... |
OMIM:616117 |
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency |
|
Osteopenia, Hepatomegaly, Elevated hepatic transaminase, Hypoglycemia, Short stature, Hepatocellu... |
ORPHA:369 |
Odonto-Onycho Dysplasia-Alopecia Syndrome |
|
Alopecia, Abnormal fingernail morphology, Hypoplastic toenails, Sparse eyebrow, Sparse hair, Spar... |
ORPHA:2722 |
Pelviscapular Dysplasia |
|
Brachydactyly, Hypoplastic scapulae, Abnormal pinna morphology, Short stature, Congenital hip dis... |
ORPHA:93333 |
Osteopathia Striata With Cranial Sclerosis |
|
Apnea, Micrognathia, Craniofacial osteosclerosis, Osteopathia striata, Conductive hearing impairm... |
OMIM:300373 |
Multicentric Carpotarsal Osteolysis Syndrome |
|
Osteopenia, Renal insufficiency, Ulnar deviation of the hand, Proteinuria, Congenital diaphragmat... |
OMIM:166300 |
Post-Traumatic Pituitary Deficiency |
|
Osteopenia, Hypogonadotropic hypogonadism, Decreased response to growth hormone stimulation test,... |
ORPHA:95619 |
Transient Neonatal Diabetes Mellitus |
|
Small for gestational age, Maternal diabetes, Maturity-onset diabetes of the young, Transient neo... |
ORPHA:99886 |
Schinzel-Giedion Syndrome |
|
Respiratory distress, Abnormal clavicle morphology, Micrognathia, Short neck, Renal cyst, Tibial ... |
ORPHA:798 |
Progressive Familial Heart Block, Type Ib |
|
Prolonged QT interval, Shortened PR interval, Atrioventricular block, Right bundle branch block, ... |
OMIM:604559 |
Schwartz-Jampel Syndrome, Type 1 |
|
Skeletal muscle atrophy, Congenital hip dislocation, Elevated circulating creatine kinase concent... |
OMIM:255800 |
Isolated Follicle Stimulating Hormone Deficiency |
|
Decreased serum testosterone concentration, Hyperplasia of the Leydig cells, Decreased female lib... |
ORPHA:52901 |
Hyperinsulinemic Hypoglycemia, Familial, 3 |
|
Diabetes mellitus, Hypoglycemic seizures, Hyperinsulinemic hypoglycemia |
OMIM:602485 |
Fibrous Dysplasia Of Bone |
|
Thyroid carcinoma, Patchy reduction of bone mineral density, Abnormality of the cervical spine, C... |
ORPHA:249 |
Familial Partial Lipodystrophy, Dunnigan Type |
|
Dysmenorrhea, Hepatic steatosis, Abnormality of the nail, Generalized hirsutism, Hepatomegaly, In... |
ORPHA:2348 |
Thanatophoric Dysplasia Type 1 |
|
Micromelia, Femoral bowing, Narrow chest, Abnormality of the kidney, Wide anterior fontanel, Abno... |
ORPHA:1860 |
Occipital Horn Syndrome |
|
Decreased circulating ceruloplasmin concentration, Pectus carinatum, Coarse hair, Narrow chest, B... |
OMIM:304150 |
Multiple Synostoses Syndrome 1 |
|
Hypoplastic spinal processes, Symphalangism affecting the phalanges of the hand, Cutaneous finger... |
OMIM:186500 |
Idiopathic Congenital Hypothyroidism |
|
Hypothermia, Delayed proximal femoral epiphyseal ossification, Elevated circulating thyroid-stimu... |
ORPHA:95717 |
Atrial Septal Defect 6 |
|
Atrial fibrillation, Bradycardia |
OMIM:613087 |
Xylt1-Cdg |
|
Pes planus, Short stature, Coxa valga, Flared metaphysis, Growth delay, Short long bone, Short fe... |
ORPHA:370930 |
Glucocorticoid Deficiency 3 |
|
Recurrent hypoglycemia |
OMIM:609197 |
Sarcoidosis, Susceptibility To, 2 |
|
Hepatomegaly, Splenomegaly, Dyspnea, Pneumothorax, Bronchiectasis, Abnormal pulmonary interstitia... |
OMIM:612387 |
De Barsy Syndrome |
|
Osteopenia, Decreased muscle mass, Cerebellar vermis hypoplasia, Generalized joint laxity, Promin... |
ORPHA:2962 |
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3 |
|
Osteopenia, Hypercalcemia, Hyperphosphatemia, Calvarial osteosclerosis, Metacarpal periosteal thi... |
OMIM:617994 |
Dysspondyloenchondromatosis |
|
Short stature, Kyphoscoliosis, Lower limb asymmetry, Abnormal fibula morphology, Genu valgum, Ver... |
ORPHA:85198 |
Hypophosphatemic Bone Disease |
|
Short stature, Osteomalacia, Bowing of the legs, Rickets, Hypophosphatemia |
OMIM:146350 |
Cutis Laxa-Marfanoid Syndrome |
|
Abnormal heart valve morphology, Arachnodactyly, Congenital diaphragmatic hernia, Limitation of j... |
ORPHA:171719 |
Malignant Hyperthermia, Susceptibility To, 3 |
|
Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration |
OMIM:154276 |
Acrodysostosis 1 With Or Without Hormone Resistance |
|
Mild postnatal growth retardation, Neonatal epiphyseal stippling, Short metatarsal, Hypoplastic v... |
OMIM:101800 |
Rhizomelic Chondrodysplasia Punctata, Type 1 |
|
Calcific stippling of infantile cartilaginous skeleton, Severe short stature, Rhizomelia, Alopeci... |
OMIM:215100 |
Charcot-Marie-Tooth Disease, Axonal, Type 2X |
|
Distal lower limb amyotrophy, Proximal muscle weakness in upper limbs, Postural tremor, Kyphoscol... |
OMIM:616668 |
Long Qt Syndrome 9 |
|
Prolonged QT interval, Cardiac arrest, Sinus bradycardia, Syncope, Abnormal U wave, Ventricular a... |
OMIM:611818 |
Alpha-1-Antitrypsin Deficiency |
|
Hepatomegaly, Jaundice, Emphysema, Hepatitis |
ORPHA:60 |
Perrault Syndrome 1 |
|
Cerebellar atrophy, Ataxia, Short stature, Increased circulating gonadotropin level, Osteoporosis... |
OMIM:233400 |
Long Qt Syndrome 5 |
|
Sudden cardiac death, Sinus bradycardia, Syncope, Torsade de pointes, Prolonged QTc interval, Ven... |
OMIM:613695 |
Ectodermal Dysplasia 6, Hair/Nail Type |
|
Sparse hair, Alopecia, Thin toenail, Dystrophic toenail |
OMIM:614928 |
Atrial Standstill |
|
Ventricular escape rhythm, Cardiac conduction abnormality, Atrial standstill, Congestive heart fa... |
ORPHA:1344 |
Kennedy Disease |
|
Skeletal muscle atrophy, Decreased fertility, Gait disturbance, Type II diabetes mellitus, Erecti... |
ORPHA:481 |
Short Qt Syndrome 2 |
|
Atrial fibrillation, Sudden cardiac death, Shortened QT interval, Syncope, Bradycardia, Ventricul... |
OMIM:609621 |
Birt-Hogg-Dubé Syndrome |
|
Pneumothorax, Pulmonary sequestration, Parathyroid adenoma, Emphysema, Medullary thyroid carcinoma |
ORPHA:122 |
Calciphylaxis |
|
Hyperphosphatemia, Secondary hyperparathyroidism, Cellulitis, Ectopic ossification, Arterial calc... |
ORPHA:280062 |
Flynn-Aird Syndrome |
|
Skeletal muscle atrophy, Alopecia, Cerebral calcification, Ataxia, Joint stiffness, Abnormality o... |
ORPHA:2047 |
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly |
|
Recurrent respiratory infections, Postaxial polydactyly, Lateral clavicle hook, Respiratory insuf... |
OMIM:615633 |
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss |
|
Hypercalciuria, Growth delay, Nephrocalcinosis, Hypokalemia, Distal renal tubular acidosis |
OMIM:602722 |
Atelosteogenesis Type Ii |
|
Cervical kyphosis, Micromelia, Short neck, Micrognathia, Narrow chest, Short phalanx of finger, B... |
ORPHA:56304 |
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia |
|
Isothenuria, Short stature, Nephrocalcinosis, Hypokalemia, Distal renal tubular acidosis, Lethargy |
OMIM:611590 |
Diffuse Neonatal Hemangiomatosis |
|
Hepatomegaly, Renal insufficiency, Hypercalcemia, Polyhydramnios, Renal hypoplasia/aplasia, Throm... |
ORPHA:2123 |
Hyperinsulinemic Hypoglycemia, Familial, 1 |
|
Pancreatic islet-cell hyperplasia, Hypoglycemic seizures, Hyperinsulinemic hypoglycemia |
OMIM:256450 |
Alopecia-Intellectual Disability-Hypergonadotropic Hypogonadism Syndrome |
|
Hypergonadotropic hypogonadism, Alopecia totalis |
ORPHA:1014 |
Roussy-Lévy Syndrome |
|
Skeletal muscle atrophy, Postural tremor, Kyphoscoliosis, Intrinsic hand muscle atrophy, Genu val... |
ORPHA:3115 |
Coronary Artery Disease, Autosomal Dominant 2 |
|
Impaired glucose tolerance, Sudden cardiac death, Myocardial infarction, Osteoporosis, Gout, Hype... |
OMIM:610947 |
Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome |
|
Hypoplastic scapulae, Rhizomelia, Short femur, Dumbbell-shaped long bone, Micromelia, Micrognathi... |
ORPHA:440354 |
46,Xx Gonadal Dysgenesis |
|
Osteopenia, Streak ovary, Premature ovarian insufficiency, Ataxia, Short stature, Sparse pubic ha... |
ORPHA:243 |
Aicardi-Goutières Syndrome |
|
Myositis, Multiple joint contractures, Cerebral calcification, Micropenis, Hypothyroidism, Short ... |
ORPHA:51 |
Fibular Dimelia-Diplopodia Syndrome |
|
Absent tibia |
ORPHA:1757 |
Glycogen Storage Disease 0, Liver |
|
Postprandial hyperglycemia, Neonatal hypoglycemia, Fasting hypoglycemia |
OMIM:240600 |
Long Qt Syndrome 16 |
|
Second degree atrioventricular block, Prolonged QTc interval, T-wave alternans, Bradycardia |
OMIM:618782 |
Dwarfism, Low-Birth-Weight Type, With Unresponsiveness To Growth Hormone |
|
Intrauterine growth retardation, Severe short stature, Hypoglycemia |
OMIM:223500 |
Fanconi Renotubular Syndrome 5 |
|
Genu valgum, Hypertension, Decreased DLCO, Pulmonary fibrosis, Glycosuria, Hypophosphatemic ricke... |
OMIM:618913 |
Cerebral Autosomal Recessive Arteriopathy-Subcortical Infarcts-Leukoencephalopathy |
|
Back pain, Spastic ataxia, Diffuse cerebral atrophy, Kyphoscoliosis, Cervical spondylosis, Stroke... |
ORPHA:199354 |
Hyperinsulinism Due To Hnf1A Deficiency |
|
Hepatomegaly, Tachycardia, Ketotic hypoglycemia, Maternal diabetes, Reactive hypoglycemia, Maturi... |
ORPHA:324575 |
Kenny-Caffey Syndrome, Type 2 |
|
Transient hypophosphatemia, Increased bone mineral density, Severe short stature, Short stature, ... |
OMIM:127000 |
Chronic Atrial And Intestinal Dysrhythmia |
|
Ventricular escape rhythm, Atrial flutter, Atrial fibrillation, Mitral regurgitation, Sick sinus ... |
OMIM:616201 |
Thymic Neuroendocrine Tumor |
|
Osteopenia, Pituitary null cell adenoma, Pancreatic islet cell adenoma, Hypercalcemia, Neoplasm o... |
ORPHA:97289 |
Microcephaly, Short Stature, And Impaired Glucose Metabolism 2 |
|
Prominent superficial veins, Short stature, Down-sloping shoulders, Kyphoscoliosis, Micrognathia,... |
OMIM:616817 |
Rajab Interstitial Lung Disease With Brain Calcifications 1 |
|
Osteopenia, Cerebral calcification, Tachypnea, Reduced bone mineral density, Cough, Emphysema, He... |
OMIM:613658 |
Ulna And Fibula, Absence Of, With Severe Limb Deficiency |
|
Short neck, Aplasia/hypoplasia of the extremities, Hemivertebrae, Pectus carinatum, Femoral bowin... |
OMIM:276820 |
Charcot-Marie-Tooth Disease Type 4D |
|
Postural tremor, Kyphoscoliosis, Abnormal foot morphology, Sensorineural hearing impairment, Spli... |
ORPHA:99950 |
Meier-Gorlin Syndrome 1 |
|
Respiratory distress, Genu recurvatum, Micrognathia, Lateral clavicle hook, Flexion contracture, ... |
OMIM:224690 |
Brachydactyly-Ectrodactyly With Fibular Aplasia Or Hypoplasia |
|
Brachydactyly, Aplasia/Hypoplasia of the fibula, Split foot, Short phalanx of finger, Fibular apl... |
OMIM:113310 |
Osteopetrosis, Autosomal Recessive 9 |
|
Hyperparathyroidism, Increased bone mineral density, Cortical sclerosis, Postnatal growth retarda... |
OMIM:620366 |
Spondylometaphyseal Dysplasia, Algerian Type |
|
Metaphyseal dysplasia, Lumbar hyperlordosis, Severe short stature, Anterior rib cupping, Kyphosco... |
OMIM:184253 |
Alopecia Totalis |
|
Alopecia, Alopecia of scalp |
ORPHA:700 |
Alopecia-Intellectual Disability Syndrome 1 |
|
Alopecia, Alopecia universalis |
OMIM:203650 |
Achondroplasia |
|
Respiratory distress, Limited hip extension, Bowing of the legs, Generalized joint laxity, Femora... |
OMIM:100800 |
Arterial Calcification, Generalized, Of Infancy, 1 |
|
Neonatal respiratory distress, Short stature, Coronary artery calcification, Myocardial infarctio... |
OMIM:208000 |
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 |
Hypergonadotropic Hypogonadism-Cataract Syndrome |
|
Hypergonadotropic hypogonadism, Short stature, Recurrent fractures, Increased circulating gonadot... |
ORPHA:2410 |
Nephronophthisis 2 |
|
Absence of renal corticomedullary differentiation, Situs inversus totalis, Hyperkalemia, Stage 5 ... |
OMIM:602088 |
X-Linked Dominant Chondrodysplasia Punctata |
|
Scarring alopecia of scalp, Abnormal lung morphology, Flexion contracture, Neonatal epiphyseal st... |
ORPHA:35173 |
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome |
|
Osteopenia, Sparse facial hair, Decreased serum estradiol, Aplasia of the ovary, Aplasia/hypoplas... |
ORPHA:2232 |
X-Linked Intellectual Disability, Stocco Dos Santos Type |
|
Increased serum serotonin, Kyphosis, Recurrent respiratory infections, Hirsutism |
ORPHA:85288 |
Osteopetrosis, Autosomal Recessive 6 |
|
Dense metaphyseal bands, Osteopetrosis, Erlenmeyer flask deformity of the femurs, Cortical sclero... |
OMIM:611497 |
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Fkbp22 Deficiency |
|
Osteopenia, Pes planus, Skeletal muscle atrophy, Elevated circulating creatine kinase concentrati... |
ORPHA:300179 |
Insulin Autoimmune Syndrome |
|
Nonketotic hypoglycemia, Arthralgia/arthritis, Reactive hypoglycemia, Insulin-resistant diabetes ... |
ORPHA:411593 |
Chromosome 17P13.3, Telomeric, Duplication Syndrome |
|
Contracture of the proximal interphalangeal joint of the 3rd finger, Short metacarpal, Brachydact... |
OMIM:612576 |
Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Calcinosis, Aplasia/Hypoplasia of the clavicles, Alopecia, Short stature, Abnormal fingertip morp... |
ORPHA:90154 |
Spondylometaphyseal Dysplasia, Schmidt Type |
|
Abnormality of the epiphysis of the femoral head, Micrognathia, Coxa vara, Narrow greater sciatic... |
ORPHA:93316 |
Warburg Micro Syndrome 1 |
|
Cerebellar vermis hypoplasia, Short stature, External genital hypoplasia, Kyphoscoliosis, Cryptor... |
OMIM:600118 |
Axial Mesodermal Dysplasia Spectrum |
|
Omphalocele, Congenital diaphragmatic hernia, Renal hypoplasia/aplasia, Abnormality of the spleen... |
ORPHA:1834 |
Malignant Hyperthermia, Susceptibility To, 1 |
|
Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration |
OMIM:145600 |
Spondyloepimetaphyseal Dysplasia, X-Linked, With Hypomyelinating Leukodystrophy |
|
Skeletal muscle atrophy, Short neck, Metaphyseal widening, Flexion contracture, Coxa vara, Metaph... |
OMIM:300232 |
Endosteal Hyperostosis, Worth Type |
|
Craniofacial hyperostosis, Sclerotic vertebral body, Facial palsy, Generalized osteosclerosis, Se... |
ORPHA:2790 |
Autosomal Recessive Kenny-Caffey Syndrome |
|
Stenosis of the medullary cavity of the long bones, Postnatal growth retardation, Small hand, Sho... |
ORPHA:93324 |
Calcification Of Joints And Arteries |
|
Coronary artery calcification, Iliac arterial calcification, Femoral arterial calcification, Inte... |
OMIM:211800 |
Hypoparathyroidism-Retardation-Dysmorphism Syndrome |
|
Posteriorly rotated ears, Patchy osteosclerosis, Micrognathia, Postnatal growth retardation, Smal... |
OMIM:241410 |
Ghosal Hematodiaphyseal Dysplasia |
|
Bowing of the long bones, Abnormal tibia morphology, Abnormal femur morphology, Abnormal pelvic g... |
ORPHA:1802 |
Osteopetrosis, Autosomal Recessive 1 |
|
Hepatomegaly, Pancytopenia, Increased bone mineral density, Osteomyelitis, Femur fracture, Cranio... |
OMIM:259700 |
Rothmund-Thomson Syndrome |
|
Osteopenia, Aplastic anemia, Reduced bone mineral density, Neutropenia, Sparse hair, Abnormality ... |
ORPHA:2909 |
Alstrom Syndrome |
|
Decreased HDL cholesterol concentration, Chronic active hepatitis, Decreased response to growth h... |
OMIM:203800 |
Spondyloepiphyseal Dysplasia Tarda With Mental Retardation |
|
Short greater sciatic notch, Coxa valga |
OMIM:271620 |
Diastrophic Dysplasia |
|
Abnormal clavicle morphology, Cerebral calcification, Proximal placement of thumb, Micromelia, Mi... |
ORPHA:628 |
Lipodystrophy, Congenital Generalized, Type 4 |
|
Osteopenia, Prolonged QT interval, Tachycardia, Atrial fibrillation, Hepatomegaly, Lipodystrophy,... |
OMIM:613327 |
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut- |
|
Respiratory distress, Hepatomegaly, Renal insufficiency, Thrombocytopenia, Splenomegaly, Hyperamm... |
ORPHA:79312 |
Myhre Syndrome |
|
Short neck, Hypoplastic iliac wing, Sparse hair, Broad ribs, Vertebral fusion, Short stature, Sho... |
OMIM:139210 |
Hypogonadotropic Hypogonadism 19 With Or Without Anosmia |
|
Osteopenia, Osteoporosis, Hypogonadotropic hypogonadism |
OMIM:615269 |
Spinocerebellar Ataxia 32 |
|
Cerebellar atrophy, Ataxia, Azoospermia, Infertility, Testicular atrophy |
OMIM:613909 |
Focal Segmental Glomerulosclerosis 1 |
|
Proteinuria, Edema, Hyperlipidemia, Stage 5 chronic kidney disease, Focal segmental glomeruloscle... |
OMIM:603278 |
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis |
|
Osteopenia, Respiratory distress, Osteomyelitis, Skin rash, Elevated circulating C-reactive prote... |
OMIM:612852 |
Congenital Disorder Of Glycosylation, Type Ig |
|
Respiratory distress, Short humerus, Short femur, Sandal gap, Rhizomelia, Abnormal pinna morpholo... |
OMIM:607143 |
Hereditary Hypophosphatemic Rickets With Hypercalciuria |
|
Waddling gait, Hyperphosphaturia, Short stature, Increased circulating beta-C-terminal telopeptid... |
ORPHA:157215 |
Berry Aneurysm, Cirrhosis, Pulmonary Emphysema, And Cerebral Calcification |
|
Short stature, Portal hypertension, Nonarteriosclerotic cerebral calcification, Cirrhosis, Emphys... |
OMIM:210050 |
Acheiropodia |
|
Short humerus, Aplasia of the ulna, Absent radius, Absent hand, Upper limb phocomelia, Abnormal e... |
ORPHA:931 |
Nemaline Myopathy 7 |
|
Pes planus, Lumbar hyperlordosis, Genu recurvatum, Kyphoscoliosis, Fatty replacement of skeletal ... |
OMIM:610687 |
Genetic Recurrent Myoglobinuria |
|
Dark urine, Renal insufficiency, Recurrent myoglobinuria, Exercise-induced myoglobinuria, Hyperka... |
ORPHA:99845 |
Lenz-Majewski Hyperostotic Dwarfism |
|
Hyperextensibility of the finger joints, Micrognathia, Hemivertebrae, Knee flexion contracture, C... |
OMIM:151050 |
Candidiasis, Familial, 1 |
|
Abnormality of the endocrine system, Alopecia |
OMIM:114580 |
Myopathic Ehlers-Danlos Syndrome |
|
Congenital muscular torticollis, Decreased muscle mass, Multiple joint contractures, Micrognathia... |
ORPHA:536516 |
Cardiac Arrhythmia, Ankyrin-B-Related |
|
Prolonged QT interval, Atrial fibrillation, Sudden cardiac death, Sinus bradycardia, Syncope |
OMIM:600919 |
Kyphomelic Dysplasia |
|
Micromelia, Micrognathia, Lateral clavicle hook, Femoral bowing, Tibial bowing, Short metacarpal,... |
OMIM:211350 |
Fructose And Galactose Intolerance |
|
Hypoglycemia |
OMIM:229500 |
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull |
|
Omphalocele, Congenital diaphragmatic hernia, Pulmonary hypoplasia, Decreased skull ossification,... |
OMIM:601163 |
Split-Hand/Foot Malformation With Long Bone Deficiency 1 |
|
Short hallux, Aplasia of the 3rd finger, Patellar aplasia, Split hand, Hand monodactyly, Split fo... |
OMIM:119100 |
Hypomagnesemia, Seizures, And Impaired Intellectual Development 2 |
|
Polyuria, Renal magnesium wasting, Nephrocalcinosis, Hypokalemia, Hypomagnesemia, Renal potassium... |
OMIM:618314 |
Rothmund-Thomson Syndrome Type 2 |
|
Osteopenia, Abnormal trabecular bone morphology, Plantar hyperkeratosis, Calcinosis, Aplastic ane... |
ORPHA:221016 |
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency |
|
Hepatomegaly, Tachycardia, Maternal diabetes, Episodic hyperhidrosis, Hyperinsulinemia, Hypoglyce... |
ORPHA:276580 |
Vitamin D Hydroxylation-Deficient Rickets, Type 1B |
|
Bulging epiphyses, Thin bony cortex, Recurrent fractures, Bowing of the legs, Delayed epiphyseal ... |
OMIM:600081 |
Scheuermann Disease |
|
Kyphosis, Morbus Scheuermann |
OMIM:181440 |
Aapoaiv Amyloidosis |
|
Left bundle branch block, Sinus bradycardia, Chronic pulmonary obstruction, Elevated circulating ... |
ORPHA:439232 |
Osteogenesis Imperfecta, Type Xiii |
|
Skeletal muscle atrophy, Reduced bone mineral density, Pectus carinatum, Enlarged thorax, Femoral... |
OMIM:614856 |
Infantile Myofibromatosis |
|
Neoplasm of the pancreas, Intestinal obstruction, Abnormality of the kidney, Hypercalcemia, Bone ... |
ORPHA:2591 |
Alopecia, Congenital |
|
Sparse hair, Alopecia |
OMIM:300042 |
Marfan Syndrome |
|
Bicuspid aortic valve, Equinus calcaneus, Incisional hernia, Flexion contracture, Emphysema, Tric... |
OMIM:154700 |
Spinocerebellar Ataxia Type 32 |
|
Male infertility, Cerebellar atrophy, Azoospermia, Progressive cerebellar ataxia, Testicular atrophy |
ORPHA:276183 |
Metatropic Dysplasia |
|
Low-set, posteriorly rotated ears, Abnormal intervertebral disk morphology, Severe short stature,... |
ORPHA:2635 |
Alpha-Heavy Chain Disease |
|
Hepatomegaly, Abnormal small intestine morphology, Malabsorption, Splenomegaly, Lymphadenopathy, ... |
ORPHA:100025 |
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency |
|
Hepatomegaly, Tachycardia, Episodic hyperhidrosis, Hyperinsulinemia, Hypoglycemic seizures, Synco... |
ORPHA:276575 |
Microcephaly, Short Stature, And Impaired Glucose Metabolism 1 |
|
Joint laxity, Diabetes mellitus, Short stature, Dorsocervical fat pad, Short neck, Osteoporosis, ... |
OMIM:616033 |
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris |
|
Ventricular septal defect, Congenital diaphragmatic hernia, Renal hypoplasia/aplasia, Cryptorchid... |
ORPHA:1166 |
Progressive Familial Heart Block, Type Ii |
|
Sudden cardiac death, Atrioventricular block, Complete heart block with narrow QRS complexes, Sin... |
OMIM:140400 |
Aarskog-Scott Syndrome |
|
Joint laxity, Hyperextensibility of the finger joints, Inguinal hernia, Short stature, Elevated c... |
OMIM:305400 |
Intellectual Disability-Balding-Patella Luxation-Acromicria Syndrome |
|
Hyperextensibility of the finger joints, Decreased muscle mass, Patellar hypoplasia, Protruding e... |
ORPHA:3041 |
Hypophosphatemic Rickets, X-Linked Recessive |
|
Bowing of the legs, Delayed epiphyseal ossification, Femoral bowing, Tibial bowing, Nephrocalcino... |
OMIM:300554 |
Hyperparathyroidism 2 With Jaw Tumors |
|
Hypercalcemia, Nephrolithiasis, Papillary renal cell carcinoma, Polycystic kidney dysplasia, Neph... |
OMIM:145001 |
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities |
|
Osteopenia, Epiphyseal dysplasia, Hyponatremia, Congenital hip dislocation, Calcinosis, Micrognat... |
OMIM:617913 |
Charcot-Marie-Tooth Disease, Demyelinating, Type 1A |
|
Kyphoscoliosis, Split hand, Hammertoe, Distal amyotrophy, Ulnar claw, Limb muscle weakness, Pes c... |
OMIM:118220 |
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome |
|
Short stature, Aplasia/Hypoplasia of the cerebellum, Hyperlordosis, Cryptorchidism, Limitation of... |
ORPHA:1192 |
Hypoglycemia, Leucine-Induced |
|
Hypoglycemia, Hyperinsulinemic hypoglycemia |
OMIM:240800 |
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness |
|
Irregular vertebral endplates, Narrow greater sciatic notch, Hypoplastic iliac wing, Lumbar hyper... |
OMIM:609616 |
Familial Thyroid Dyshormonogenesis |
|
Positive perchlorate discharge test, Thyroid defect in oxidation and organification of iodide, Hy... |
ORPHA:95716 |
Dent Disease 1 |
|
Bowing of the legs, Delayed epiphyseal ossification, Femoral bowing, Tibial bowing, Nephrocalcino... |
OMIM:300009 |
Weill-Marchesani Syndrome 2 |
|
Short metatarsal, Thickened helices, Broad ribs, Broad metacarpals, Short metacarpal, Lumbar hype... |
OMIM:608328 |
Acromesomelic Dysplasia, Maroteaux Type |
|
Bowing of the long bones, Ovoid vertebral bodies, Hyperlordosis, Kyphosis, Disproportionate short... |
ORPHA:40 |
Nephropathy-Deafness-Hyperparathyroidism Syndrome |
|
Glomerulopathy, Renal insufficiency, Proteinuria, Hypercalcemia |
ORPHA:2668 |
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome |
|
Abnormality of the spleen, Hepatic fibrosis, Hepatosplenomegaly, Azoospermia, Varicose veins, Pul... |
ORPHA:2072 |
Sclerosteosis 1 |
|
Syndactyly, Facial palsy, Sclerotic scapulae, Broad clavicles, 2-3 finger syndactyly, Facial pals... |
OMIM:269500 |
Atrial Fibrillation, Familial, 7 |
|
Paroxysmal atrial fibrillation, Permanent atrial fibrillation, Prolonged QTc interval, Sinus brad... |
OMIM:612240 |
Glycogen Storage Disease Vi |
|
Hepatomegaly, Hypoglycemia, Failure to thrive in infancy, Postnatal growth retardation, Increased... |
OMIM:232700 |
Hypophosphatemic Rickets, Autosomal Recessive, 1 |
|
Increased bone mineral density, Craniosynostosis, Rickets, Hypophosphatemia, Hypophosphatemic ric... |
OMIM:241520 |
Autoimmune Hypoparathyroidism |
|
Calcium nephrolithiasis, Hyperphosphatemia, Hypocalcemia, Hypocalcemic tetany, Hypocalcemic seizures |
ORPHA:36913 |
Hjv Or Hamp-Related Hemochromatosis |
|
Diabetes mellitus, Increased circulating ferritin concentration, Elevated transferrin saturation,... |
ORPHA:79230 |
Paget Disease Of Bone 2, Early-Onset |
|
Sandwich appearance of vertebral bodies, Bowing of the long bones, Short femur, Hypercalcemia, Fr... |
OMIM:602080 |
Epidermolysis Bullosa Simplex 6, Generalized Intermediate, With Or Without Cardiomyopathy |
|
Alopecia, Onychogryposis of toenails, Alopecia of scalp, Sparse body hair, Dystrophic toenail |
OMIM:617294 |
Atelosteogenesis Type I |
|
Short femur, Rhizomelia, Micrognathia, Abnormal ossification involving the femoral head and neck,... |
ORPHA:1190 |
Perifolliculitis Capitis Abscedens Et Suffodiens, Familial |
|
Alopecia, Alopecia of scalp |
OMIM:260910 |
Anauxetic Dysplasia 2 |
|
Metaphyseal dysplasia, Short stature, Thoracolumbar kyphoscoliosis, Ovoid vertebral bodies, Short... |
OMIM:617396 |
Singleton-Merten Syndrome 1 |
|
Osteopenia, Hypoplastic distal radial epiphyses, Cardiomegaly, Expanded metacarpals with widened ... |
OMIM:182250 |
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome |
|
Osteopenia, Short fourth metatarsal, Short neck, Tibial metaphyseal irregularity, Abnormality of ... |
ORPHA:457395 |
Spondyloepiphyseal Dysplasia Tarda |
|
Back pain, Osteoarthritis of the distal interphalangeal joint, Abnormality of the tibial plateaux... |
ORPHA:93284 |
Schinzel-Giedion Midface Retraction Syndrome |
|
Increased density of long bones, Short neck, Tibial bowing, Opisthotonus, Hypoplasia of first rib... |
OMIM:269150 |
Spondyloepiphyseal Dysplasia Tarda, Autosomal Dominant |
|
Barrel-shaped chest, Lumbar hyperlordosis, Kyphoscoliosis, Short neck, Avascular necrosis of the ... |
OMIM:184100 |
Oculoskeletodental Syndrome |
|
Hepatomegaly, Short stature, Hypercalcemia, Cryptorchidism, Splenomegaly, Low anterior hairline, ... |
OMIM:618440 |
Hyperinsulinemic Hypoglycemia, Familial, 8 |
|
Short stature, Hypoglycemia, Elevated circulating thyroid-stimulating hormone concentration, Hype... |
OMIM:620211 |
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects |
|
Syndactyly, Stapes ankylosis, Short stature, Highly arched eyebrow, Synophrys, Vertebral clefting... |
OMIM:614701 |
Congenital Disorder Of Glycosylation, Type Iig |
|
Osteopenia, Thoracic scoliosis, Micrognathia, Short neck, Vertebral segmentation defect, Conducti... |
OMIM:611209 |
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome |
|
Progressive neurologic deterioration, Reactive hypoglycemia, Hyperinsulinemia, Increased body wei... |
ORPHA:276608 |
Atelosteogenesis, Type I |
|
Short neck, Micrognathia, Short metatarsal, Tibial bowing, Knee dislocation, Narrow chest, Verteb... |
OMIM:108720 |
Congenital Myopathy 10A, Severe Variant |
|
Respiratory distress, Camptodactyly of finger, Facial palsy, Elevated circulating creatine kinase... |
OMIM:614399 |
Cerebrooculofacioskeletal Syndrome 1 |
|
Cerebellar atrophy, Diffuse cerebral atrophy, Kyphoscoliosis, Cryptorchidism, Basal ganglia calci... |
OMIM:214150 |
Carnitine Deficiency, Systemic Primary |
|
Respiratory distress, Hepatomegaly, Dicarboxylic aciduria, Elevated circulating creatine kinase c... |
OMIM:212140 |
Osteofibrous Dysplasia, Susceptibility To |
|
Pseudoarthrosis, Fibular hypoplasia |
OMIM:607278 |
Alg6-Cdg |
|
Abnormal circulating enzyme concentration or activity, Jaundice, Decreased LDL cholesterol concen... |
ORPHA:79320 |
Ichthyosis--Cheek--Eyebrow Syndrome |
|
Pes planus, Abnormal thorax morphology, Kyphoscoliosis |
OMIM:146720 |
Fetal Encasement Syndrome |
|
Omphalocele, Congenital diaphragmatic hernia, Upper limb undergrowth, Horseshoe kidney, Increased... |
OMIM:613630 |
Orofaciodigital Syndrome Type 10 |
|
Radial deviation of the hand, Duplication of thumb phalanx, Tarsal synostosis, Micrognathia, Shor... |
ORPHA:2756 |
Serkal Syndrome |
|
Abnormal penis morphology, Hypoplasia of the bladder, Renal agenesis, Hypospadias, Congenital dia... |
ORPHA:139466 |
Stapes Ankylosis With Broad Thumbs And Toes |
|
Stapes ankylosis, Toe syndactyly, Broad hallux, Congenital stapes ankylosis, Proximal/middle symp... |
OMIM:184460 |
Long Qt Syndrome 8 |
|
Sudden cardiac death, Sinus bradycardia, Syncope, Aborted sudden cardiac death, Prolonged QTc int... |
OMIM:618447 |
Hepatorenocardiac Degenerative Fibrosis |
|
Portal hypertension, Hypersplenism, Jaundice, Renal cyst, Hepatosplenomegaly, Hypertrophic cardio... |
OMIM:619902 |
Coccidioidomycosis |
|
Respiratory distress, Abnormal long bone morphology, Morbilliform rash, Cough, Broad ribs, Abnorm... |
ORPHA:228123 |
Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome |
|
Alopecia, Ataxia, Decreased response to growth hormone stimulation test, Cryptorchidism, Growth d... |
ORPHA:3363 |
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency |
|
Short attention span, Short stature, Hypoglycemia, Small for gestational age, Micrognathia, Postn... |
ORPHA:73272 |
Hypophosphatemic Rickets With Hypercalciuria, Hereditary |
|
Calcium nephrolithiasis, Bowing of the legs, Delayed epiphyseal ossification, Deformed rib cage, ... |
OMIM:241530 |
Functioning Gonadotropic Adenoma |
|
Osteopenia, Decreased response to growth hormone stimulation test, Pituitary gonadotropic cell ad... |
ORPHA:91348 |
Progressive Pseudorheumatoid Dysplasia |
|
Enlarged epiphyses, Enlarged interphalangeal joints, Camptodactyly of finger, Kyphoscoliosis, Enl... |
OMIM:208230 |
Fabry Disease |
|
Conjunctival telangiectasia, Bundle branch block, Atrioventricular block, Abnormal femur morpholo... |
ORPHA:324 |
Roussy-Levy Hereditary Areflexic Dystasia |
|
Upper limb postural tremor, Kyphoscoliosis, Hammertoe, Distal amyotrophy, Pes cavus, Action tremor |
OMIM:180800 |
Osteopetrosis, Autosomal Dominant 2 |
|
Recurrent fractures, Mandibular osteomyelitis, Fractures of the long bones, Generalized osteoscle... |
OMIM:166600 |
Hyperparathyroidism, Neonatal Severe |
|
Calcinosis, Hyperphosphaturia, Hypercalcemia, Recurrent fractures, Polyuria, Dyspnea, Tachypnea, ... |
OMIM:239200 |
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia |
|
Hypothalamic gonadotropin-releasing hormone deficiency, Small scrotum, Hypogonadotropic hypogonad... |
OMIM:308700 |
Hennekam Lymphangiectasia-Lymphedema Syndrome 1 |
|
Mild postnatal growth retardation, Ectopic kidney, Cutaneous finger syndactyly, Hypoalbuminemia, ... |
OMIM:235510 |
Cardiomyopathy, Familial Hypertrophic, 6 |
|
Wolff-Parkinson-White syndrome, Atrial fibrillation, Prolonged QRS complex, Congestive heart fail... |
OMIM:600858 |
Poikiloderma, Hereditary Fibrosing, With Tendon Contractures, Myopathy, And Pulmonary Fibrosis |
|
Hepatomegaly, Alopecia, Sparse eyelashes, Sparse eyebrow, Hypohidrosis, Restrictive ventilatory d... |
OMIM:615704 |
Craniodiaphyseal Dysplasia, Autosomal Dominant |
|
Craniofacial hyperostosis, Thickened ribs, Short stature, Cortical sclerosis, Craniofacial osteos... |
OMIM:122860 |
Maternal Uniparental Disomy Of Chromosome 9 |
|
Kyphoscoliosis, Short neck, Micrognathia, Hamstring contractures, Patellar dislocation, Low-set e... |
ORPHA:96183 |
Hypocalcemic Vitamin D-Resistant Rickets |
|
Short stature, Osteomalacia, Recurrent fractures, Bone cyst, Genu varum, Osteolysis, Genu valgum,... |
ORPHA:93160 |
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1 |
|
Calcinosis, Increased renal tubular phosphate reabsorption, Decreased renal tubular phosphate exc... |
OMIM:211900 |
Small Cell Carcinoma Of The Bladder |
|
Hematuria, Hypercalcemia, Recurrent urinary tract infections, Dysuria |
ORPHA:284400 |
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome |
|
Osteopenia, Respiratory distress, Multiple joint contractures, Micrognathia, Metaphyseal widening... |
ORPHA:536467 |
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease |
|
Hepatomegaly, Renal insufficiency, Hepatic cysts, Portal hypertension, Absence of renal corticome... |
OMIM:263200 |
Endocardial Fibroelastosis |
|
Sandal gap, Hypoglycemia, Micrognathia, Cognitive impairment, Anterior hypopituitarism |
ORPHA:2022 |
Fibular Aplasia-Ectrodactyly Syndrome |
|
Split hand, Abnormal morphology of ulna, Aplasia/Hypoplasia of the fibula |
ORPHA:1118 |
Fanconi-Bickel Syndrome |
|
Osteopenia, Nephrocalcinosis, Fasting hypoglycemia, Nephropathy, Elevated circulating aspartate a... |
ORPHA:2088 |
Brugada Syndrome |
|
Tachycardia, Cardiac arrest, First degree atrioventricular block, Trifascicular block, ST segment... |
ORPHA:130 |
Intellectual Developmental Disorder, X-Linked 82 |
|
Kyphosis, Scoliosis |
OMIM:300518 |
Silver-Russell Syndrome Due To An Imprinting Defect Of 11P15 |
|
Short stature, Hypoglycemia, Small for gestational age, Lower limb asymmetry, Postnatal growth re... |
ORPHA:231140 |
Osteopetrosis, Autosomal Recessive 4 |
|
Reticulocytosis, Hepatomegaly, Increased bone mineral density, Recurrent fractures, Thrombocytope... |
OMIM:611490 |
Tibial Hemimelia |
|
Aplasia of the 2nd metacarpal, Aplasia of the 4th metacarpal, Knee flexion contracture, Increased... |
ORPHA:93322 |
Sick Sinus Syndrome 1 |
|
Prolonged QT interval, Ventricular escape rhythm, Absent P wave, Atrioventricular block, Sinus br... |
OMIM:608567 |
Orofaciodigital Syndrome Viii |
|
Syndactyly, Short tibia, Polydactyly |
OMIM:300484 |
Hypophosphatemic Rickets, X-Linked Dominant |
|
Shortening of the talar neck, Short stature, Osteomalacia, Bowing of the legs, Abnormal circulati... |
OMIM:307800 |
Congenital Aortic Valve Stenosis |
|
Angina pectoris, Thoracic aortic aneurysm, Sudden cardiac death, Aortic valve calcification, Aort... |
ORPHA:3093 |
Hypophosphatasia, Childhood |
|
Elevated urine pyrophosphate, Elevated plasma pyrophosphate, Short stature, Craniosynostosis, Bow... |
OMIM:241510 |
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome |
|
Omphalocele, Finger syndactyly, Congenital diaphragmatic hernia, Aplasia/hypoplasia of the humeru... |
ORPHA:2141 |
Oliver-Mcfarlane Syndrome |
|
Hypoplasia of penis, Alopecia, Hypogonadotropic hypogonadism, Decreased response to growth hormon... |
OMIM:275400 |
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Leptodactylic Type |
|
Abnormal metatarsal morphology, Aplasia/hypoplasia of the extremities, Delayed epiphyseal ossific... |
ORPHA:93360 |
Coenzyme Q10 Deficiency, Primary, 8 |
|
Respiratory distress, Flexion contracture, Elevated circulating creatinine concentration, Hyperte... |
OMIM:616733 |
Fibrodysplasia Ossificans Progressiva |
|
Hallux valgus, Small cervical vertebral bodies, Progressive cervical vertebral spine fusion, Alop... |
OMIM:135100 |
Chondrodysplasia Punctata 2, X-Linked Dominant |
|
Short neck, Elevated 8(9)-cholestenol, Hemivertebrae, Tracheal calcification, Sparse hair, Rhizom... |
OMIM:302960 |
Hyperinsulinism Due To Ucp2 Deficiency |
|
Hepatomegaly, Tachycardia, Reactive hypoglycemia, Episodic hyperhidrosis, Hypoglycemic seizures, ... |
ORPHA:276556 |
Arthrogryposis, Distal, Type 3 |
|
Decreased muscle mass, Congenital hip dislocation, Short neck, Micrognathia, Knee flexion contrac... |
OMIM:114300 |
Hypocomplementemic Urticarial Vasculitis |
|
Hepatomegaly, Abnormal heart valve morphology, Pericardial effusion, Dyspnea, Splenomegaly, Emphy... |
ORPHA:36412 |
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3 |
|
Osteopenia, Pes planus, Short metacarpal, Short stature, Camptodactyly of finger, Kyphoscoliosis,... |
OMIM:612350 |
Osteopetrosis, Autosomal Recessive 8 |
|
Hepatomegaly, Splenomegaly, Anemia, Osteopetrosis, Failure to thrive, Thrombocytopenia |
OMIM:615085 |
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy |
|
Short metacarpal, Rhizomelia, Ovoid vertebral bodies, Postnatal growth retardation, Cupped ribs, ... |
OMIM:608940 |
Charcot-Marie-Tooth Disease, Type 4B2 |
|
Kyphoscoliosis, Sensorineural hearing impairment, Split hand, Hammertoe, Distal amyotrophy, Talip... |
OMIM:604563 |
Hypohidrotic Ectodermal Dysplasia-Hypothyroidism-Ciliary Dyskinesia Syndrome |
|
Sparse scalp hair, Alopecia, Recurrent respiratory infections, Sparse eyebrow, Hypothyroidism, Fi... |
ORPHA:1882 |
Familial Hyperprolactinemia |
|
Osteopenia, Hemorrhagic ovarian cyst, Female hypogonadism, Osteoporosis, Menorrhagia, Infertility... |
ORPHA:397685 |
Brachydactyly, Preaxial, With Hallux Varus And Thumb Abduction |
|
Short metacarpal, Short hallux, Hallux varus, Short thumb, Short metatarsal, Hitchhiker thumb, Sh... |
OMIM:112450 |
X-Linked Hypophosphatemia |
|
Beaded ribs, Bowing of the legs, Generalized osteosclerosis, Trapezoidal distal femoral condyles,... |
ORPHA:89936 |
Acromesomelic Dysplasia 2B |
|
Short metacarpal, Rhizomelia, Deformed tarsal bones, Talipes equinovalgus, Absent toe, Short meta... |
OMIM:228900 |
Hypocalciuric Hypercalcemia, Familial, Type Iii |
|
Renal insufficiency, Osteomalacia, Parathormone-independent increased renal tubular calcium reabs... |
OMIM:600740 |
Myotonic Dystrophy 1 |
|
Respiratory distress, Atrial flutter, Atrial fibrillation, Frontal balding, First degree atrioven... |
OMIM:160900 |
Weismann-Netter Syndrome |
|
Bowing of the long bones, Abnormal morphology of ulna, Abnormality of the humerus, Abnormal tibia... |
ORPHA:3344 |
Osteopetrosis, Autosomal Recessive 2 |
|
Pancytopenia, Extramedullary hematopoiesis, Osteomyelitis, Recurrent fractures, Mandibular osteom... |
OMIM:259710 |
Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Prolonged QT interval, Respiratory distress, Tachycardia, Hepatomegaly, Ventricular septal defect... |
ORPHA:26793 |
Osteochondrosis Of The Metatarsal Bone |
|
Flattened metatarsal heads, Abnormality of the fifth metatarsal bone, Sclerosis of foot bone, Abn... |
ORPHA:564003 |
Melorheostosis With Osteopoikilosis |
|
Osteopoikilosis, Hypertension, Complete duplication of the distal phalanges of the hand, Multiple... |
ORPHA:1879 |
Lodder-Merla Syndrome, Type 1, With Impaired Intellectual Development And Cardiac Arrhythmia |
|
Sick sinus syndrome, Bradycardia |
OMIM:617173 |
Bare Lymphocyte Syndrome, Type I |
|
Bronchiectasis, Bronchiolitis, Emphysema, Chronic sinusitis, Recurrent bronchitis |
OMIM:604571 |
Sick Sinus Syndrome 4 |
|
Sinoatrial block, Chronotropic incompetence, Abnormal QT interval, Paroxysmal atrial fibrillation... |
OMIM:619464 |
Renal Tubular Acidosis Iii |
|
Nephrocalcinosis, Hypokalemia, Bicarbonate-wasting renal tubular acidosis, Nephrolithiasis |
OMIM:267200 |
Hyperinsulinemic Hypoglycemia, Familial, 4 |
|
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia |
OMIM:609975 |
Vitamin D-Dependent Rickets, Type 2A |
|
Bowing of the legs, Delayed epiphyseal ossification, Deformed rib cage, Femoral bowing, Tibial bo... |
OMIM:277440 |
Kyphomelic Dysplasia |
|
Bowing of the long bones, Anterior rib cupping, Micromelia, Missing ribs, Lateral clavicle hook, ... |
ORPHA:1801 |
Developmental And Epileptic Encephalopathy 41 |
|
Nephrocalcinosis, Lethargy, Kyphoscoliosis, Inability to walk |
OMIM:617105 |
Richieri Costa-Da Silva Syndrome |
|
Decreased muscle mass, Short stature, Diastasis recti, Kyphoscoliosis, Short neck, Metatarsus add... |
ORPHA:3101 |
Spondylocostal Dysostosis 1, Autosomal Recessive |
|
Back pain, Vertebral fusion, Severe short stature, Short stature, Block vertebrae, Abnormal odont... |
OMIM:277300 |
Pericardial And Diaphragmatic Defect |
|
Neonatal respiratory distress, Bicuspid aortic valve, Intestinal malrotation, Congenital diaphrag... |
ORPHA:2847 |
Senior-Loken Syndrome |
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Congenital hepatic fibrosis, Chronic kidney disease, Stage 5 chronic kidney disease, Hypertension... |
ORPHA:3156 |
Vitamin B12-Responsive Methylmalonic Acidemia |
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Hepatomegaly, Renal insufficiency, Respiratory insufficiency, Hyperammonemia, Dehydration, Anemia |
ORPHA:28 |
Jeune Syndrome |
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Renal insufficiency, Toe syndactyly, Micromelia, Postaxial hand polydactyly, Respiratory insuffic... |
ORPHA:474 |
Wolfram Syndrome 1 |
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Sideroblastic anemia, Diabetes mellitus, Diabetes insipidus, Ataxia, Megaloblastic anemia, Cerebr... |
OMIM:222300 |
Niemann-Pick Disease, Type B |
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Recurrent respiratory infections, Hepatomegaly, Foam cells with lamellar inclusion bodies, Short ... |
OMIM:607616 |
Congenital Myopathy 23 |
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Skeletal muscle atrophy, Scapular winging, Kyphoscoliosis, Flexion contracture, Facial diplegia, ... |
OMIM:609285 |
Progressive Familial Intrahepatic Cholestasis |
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Failure to thrive, Short stature, Hypocalcemia, Reduced bone mineral density |
ORPHA:172 |
Cardiomyopathy, Dilated, 1A |
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Atrial flutter, Atrial fibrillation, First degree atrioventricular block, Sudden cardiac death, C... |
OMIM:115200 |
Arthrogryposis Multiplex Congenita 3, Myogenic Type |
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Kyphoscoliosis, Centrally nucleated skeletal muscle fibers, Kyphosis, Flexion contracture, Increa... |
OMIM:618484 |
Kallmann Syndrome With Spastic Paraplegia |
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Hypothalamic gonadotropin-releasing hormone deficiency, Hypogonadotropic hypogonadism, Ataxia, Sp... |
OMIM:308750 |
Classic Galactosemia |
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Male infertility, Hepatomegaly, Decreased serum insulin-like growth factor 1, Premature ovarian i... |
ORPHA:79239 |
Pseudoachondroplasia |
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Delayed epiphyseal ossification, Metaphyseal widening, Abnormal form of the vertebral bodies, Inc... |
ORPHA:750 |
Glycogen Storage Disease Due To Acid Maltase Deficiency |
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Respiratory distress, Elevated circulating creatine kinase concentration, Abnormal internal carot... |
ORPHA:365 |
Non-Acquired Panhypopituitarism |
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Osteopenia, Ectopic posterior pituitary, Decreased response to growth hormone stimulation test, A... |
ORPHA:90695 |
Hidrotic Ectodermal Dysplasia |
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Absent eyebrow, Alopecia, Hypopigmentation of hair, Sparse eyelashes, Brittle scalp hair, Sparse ... |
ORPHA:189 |
Vacterl/Vater Association |
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Hypoplasia of penis, Congenital diaphragmatic hernia, Ectopic kidney, Abnormality of the urethra,... |
ORPHA:887 |
Langer Mesomelic Dysplasia |
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Bowing of the long bones, Abnormal morphology of ulna, Micromelia, Aplasia/Hypoplasia of the fibu... |
ORPHA:2632 |
Epiphyseal Dysplasia, Baumann Type |
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Carpal bone aplasia, Pes planus, Epiphyseal dysplasia, Hypoplasia of the femoral head, Long finge... |
OMIM:610797 |
Late-Onset Isolated Acth Deficiency |
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Normocytic anemia, Decreased circulating cortisol level, Lethargy, Hashimoto thyroiditis, Hypopar... |
ORPHA:199299 |
Osteopetrosis, Autosomal Dominant 1 |
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Generalized osteosclerosis, Abnormal pelvic girdle bone morphology, Osteopetrosis, Calvarial oste... |
OMIM:607634 |
Axial Spondylometaphyseal Dysplasia |
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Osteopenia, Aplasia/Hypoplasia of the vertebrae, Thoracic scoliosis, Mild postnatal growth retard... |
ORPHA:168549 |
Ossification Of The Posterior Longitudinal Ligament Of Spine |
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Ectopic ossification, Increased bone mineral density, Diabetes mellitus |
OMIM:602475 |
Hyperparathyroidism, Transient Neonatal |
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Osteopenia, Respiratory distress, Femoral bowing, Narrow chest, Patent ductus arteriosus, Elevate... |
OMIM:618188 |
Spondyloepimetaphyseal Dysplasia, Handigodu Type |
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Abnormal intervertebral disk morphology, Coxa vara, Arthralgia of the hip, Lumbar hyperlordosis, ... |
ORPHA:99642 |
Mody |
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Elevated hemoglobin A1c, Large for gestational age, Overweight, Transient neonatal diabetes melli... |
ORPHA:552 |
Symphalangism, Proximal, 1A |
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Stapes ankylosis, Tarsal synostosis, Aplasia/Hypoplasia of the middle phalanges of the hand, Meta... |
OMIM:185800 |
Parc Syndrome |
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Absent eyelashes, Absent eyebrow, Alopecia |
OMIM:600331 |
Spinal Muscular Atrophy, Ryukyuan Type |
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Pes cavus, Spinal muscular atrophy, Kyphoscoliosis, Proximal amyotrophy |
OMIM:271200 |
Polyendocrine-Polyneuropathy Syndrome |
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Alopecia, Hypogonadotropic hypogonadism, Anterior pituitary hypoplasia, Hypoglycemia, Decreased c... |
ORPHA:453533 |
Alg12-Cdg |
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Proximal placement of thumb, Micrognathia, Recurrent hypoglycemia, Hypoalbuminemia, Abnormal bone... |
ORPHA:79324 |
Autosomal Dominant Kenny-Caffey Syndrome |
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Stenosis of the medullary cavity of the long bones, Short stature, Postnatal growth retardation, ... |
ORPHA:93325 |
Ventricular Tachycardia, Catecholaminergic Polymorphic, 3 |
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Prolonged QT interval, Bidirectional ventricular tachycardia, Cardiac arrest, Polymorphic ventric... |
OMIM:614021 |
Propionic Acidemia |
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Hepatomegaly, Pancytopenia, Increased level of hippuric acid in urine, Apnea, Thrombocytopenia, C... |
OMIM:606054 |
Nephronophthisis 16 |
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Renal insufficiency, Situs inversus totalis, Stage 5 chronic kidney disease, Cholestasis, Peripor... |
OMIM:615382 |
Shwachman-Diamond Syndrome 1 |
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Respiratory distress, Myocardial necrosis, Neonatal respiratory distress, Elevated hepatic transa... |
OMIM:260400 |
Ivic Syndrome |
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Hypoplasia of the ulna, Hypoplasia of deltoid muscle, Short femur, Limited interphalangeal moveme... |
OMIM:147750 |
Normosmic Congenital Hypogonadotropic Hypogonadism |
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Osteopenia, Generalized joint laxity, Male hypogonadism, Micropenis, Hypogonadotropic hypogonadis... |
ORPHA:432 |
Arterial Calcification, Generalized, Of Infancy, 2 |
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Tricuspid regurgitation, Myocardial infarction, Coronary artery calcification, Congestive heart f... |
OMIM:614473 |
46,Xy Partial Gonadal Dysgenesis |
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Hypoplasia of the vagina, Hypoplasia of penis, Vanishing testis, Decreased serum estradiol, Micro... |
ORPHA:251510 |
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency |
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Decreased circulating cortisol level, Adrenal calcification, Adrenal hypoplasia, Neonatal hypogly... |
ORPHA:289548 |
Mehmo Syndrome |
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Hypoglycemia, Decreased response to growth hormone stimulation test, Inability to walk, Gait atax... |
OMIM:300148 |
Sim1-Related Prader-Willi-Like Syndrome |
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Osteopenia, Small scrotum, External genital hypoplasia, Xerostomia, Clitoral hypoplasia, Prematur... |
ORPHA:398079 |
Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, With Or Without Atrial Dysfunction And/Or Dilated Cardiomyopathy |
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Paroxysmal atrial fibrillation, Reduced systolic function, Bidirectional ventricular tachycardia,... |
OMIM:604772 |
Rajab Interstitial Lung Disease With Brain Calcifications 2 |
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Elevated hepatic transaminase, Decreased muscle mass, Hypertriglyceridemia, Arachnodactyly, Short... |
OMIM:619013 |
Addison Disease |
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Normocytic anemia, Decreased circulating cortisol level, Adrenal calcification, Adrenal hypoplasi... |
ORPHA:85138 |
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial |
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Impaired gluconeogenesis, Hypoglycemia, Hepatic steatosis |
OMIM:261650 |
Uruguay Faciocardiomusculoskeletal Syndrome |
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Congenital hip dislocation, Elevated circulating creatine kinase concentration, Limited elbow mov... |
OMIM:300280 |
Werner Syndrome |
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Premature arteriosclerosis, Low back pain, Diabetes mellitus, Hypertriglyceridemia, Elevated hemo... |
OMIM:277700 |
Polycystic Kidney Disease 5 |
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Stage 5 chronic kidney disease, Hepatosplenomegaly, Hypertension, Polycystic kidney dysplasia, Re... |
OMIM:617610 |
Loeys-Dietz Syndrome 4 |
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Joint laxity, Pes planus, Torticollis, Inguinal hernia, Arachnodactyly, Protrusio acetabuli, Eosi... |
OMIM:614816 |
Robinow Syndrome, Autosomal Recessive 1 |
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Micrognathia, Short neck, Hemivertebrae, Nephrocalcinosis, Short palm, Thoracic hemivertebrae, Mi... |
OMIM:268310 |
Spermatogenic Failure, X-Linked, 2 |
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