| Hypoparathyroidism, Familial Isolated, 2 |
|
Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures |
OMIM:618883 |
| Syndactyly Type 4 |
|
Short tibia, Camptodactyly of finger, 6 metacarpals, Triphalangeal thumb, Hand polydactyly, Foot ... |
ORPHA:93405 |
| Pseudohypoparathyroidism, Type Ib |
|
Brachydactyly, Hypocalcemia, Hyperphosphatemia, Short metacarpal |
OMIM:603233 |
| Acromesomelic Dysplasia 2C |
|
Distal femoral bowing, Radial bowing, Hypoplasia of the radius, Short tibia, Shortening of all pr... |
OMIM:201250 |
| Acromesomelic Dysplasia 2A |
|
Short femur, Hypoplasia of the radius, Short tibia, Short humerus, Aplasia/Hypoplasia of the pate... |
OMIM:200700 |
| Pseudohypoparathyroidism Type 2 |
|
Hypocalcemia, Laryngeal dystonia, Hypocalcemic tetany, Hyperphosphatemia, Hypocalcemic seizures |
ORPHA:94090 |
| Pseudohypoparathyroidism, Type Ii |
|
Hypocalcemia, Hyperphosphatemia |
OMIM:203330 |
| Acrocapitofemoral Dysplasia |
|
Cone-shaped epiphyses of the phalanges of the hand, Hypoplasia of the radius, Cone-shaped epiphys... |
OMIM:607778 |
| Chondrodysplasia Punctata, Tibia-Metacarpal Type |
|
Short tibia, Micromelia, Short 3rd metacarpal, Limb undergrowth, Short 2nd metacarpal, Short 4th ... |
OMIM:118651 |
| Osebold-Remondini Syndrome |
|
Carpal synostosis, Short toe, Dysplastic distal radial epiphyses, Hypoplasia of the radius, Short... |
OMIM:112910 |
| Acromesomelic Dysplasia, Grebe Type |
|
Short toe, Short tibia, Aplasia of the middle phalanges of the toes, Brachydactyly, Micromelia, S... |
ORPHA:2098 |
| Pentosuria |
|
Abnormal circulating carbohydrate concentration, Abnormality of circulating enzyme level |
ORPHA:2843 |
| Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome |
|
Tibial bowing, Hand oligodactyly, Short tibia, Syndactyly, Foot oligodactyly, Fibular aplasia |
OMIM:246570 |
| Blue Diaper Syndrome |
|
Recurrent hypoglycemia, Hyperphosphatemia, Increased proinsulin:insulin ratio, Hypercalcemia |
ORPHA:94086 |
| Vitamin D-Dependent Rickets, Type 3 |
|
Bowing of the legs, Hypophosphatemia, Metaphyseal cupping, Hypocalcemia, Flared metaphysis, Genu ... |
OMIM:619073 |
| Langer Mesomelic Dysplasia |
|
Radial bowing, Hypoplasia of the radius, Micrognathia, Broad ulna, Short tibia, Rudimentary fibul... |
OMIM:249700 |
| Tibia, Hypoplasia Or Aplasia Of, With Polydactyly |
|
Preaxial polydactyly, Short tibia, Triphalangeal thumb, Fibular duplication, Absent tibia |
OMIM:188740 |
| Acheiropody |
|
Aplasia of the ulna, Absent hand, Short tibia, Lower limb peromelia, Carpal bone aplasia, Short h... |
OMIM:200500 |
| Malignant Hyperthermia, Susceptibility To, 2 |
|
Elevated circulating creatine kinase concentration, Hyperphosphatemia, Hyperkalemia |
OMIM:154275 |
| Hypophosphatemia, Renal, With Intracerebral Calcifications |
|
Short distal phalanx of finger, Renal hypophosphatemia |
OMIM:241519 |
| Leri-Weill Dyschondrosteosis |
|
Short toe, Tibial bowing, Abnormal femoral neck morphology, Radial bowing, Coxa valga, Hypoplasia... |
OMIM:127300 |
| Mesomelic Dwarfism Of Hypoplastic Tibia And Radius Type |
|
Hypoplasia of the radius, Short tibia, Pseudoarthrosis |
OMIM:156230 |
| Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland |
|
Hypomagnesemia, Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures |
ORPHA:2239 |
| Lethal Faciocardiomelic Dysplasia |
|
Microretrognathia, Hypoplasia of the radius, Radial club hand, Short tibia, Short 5th finger, Hyp... |
ORPHA:1972 |
| Malignant Hyperthermia, Susceptibility To, 3 |
|
Elevated circulating creatine kinase concentration, Hyperphosphatemia, Hyperkalemia |
OMIM:154276 |
| Léri-Weill Dyschondrosteosis |
|
Abnormality of femur morphology, Hypoplasia of the radius, Cone-shaped epiphysis, Micromelia, Abn... |
ORPHA:240 |
| Gollop-Wolfgang Complex |
|
Aplasia/Hypoplasia of the ulna, Ectrodactyly, Aplasia/Hypoplasia of the tibia, Hand monodactyly, ... |
ORPHA:1986 |
| Malignant Hyperthermia, Susceptibility To, 1 |
|
Elevated circulating creatine kinase concentration, Hyperphosphatemia, Hyperkalemia |
OMIM:145600 |
| Hypocalcemia, Autosomal Dominant 1 |
|
Hypomagnesemia, Hypokalemia, Hypocalcemia, Increased circulating renin level, Hyperphosphatemia |
OMIM:601198 |
| Fibular Hemimelia |
|
Talipes equinovalgus, Structural foot deformity, Arthralgia of the hip, Abnormality of fibula mor... |
ORPHA:93323 |
| Hypoparathyroidism, Familial Isolated, 1 |
|
Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures |
OMIM:146200 |
| Mesomelic Dysplasia, Savarirayan Type |
|
Dislocated radial head, Short tibia, Talipes equinovalgus, Mesomelia, Abnormal foot morphology, H... |
OMIM:605274 |
| Chondrodysplasia, Lethal, With Long Bone Angulation And Mixed Bone Density |
|
Short femur, Hypoplasia of the radius, Short tibia, Lytic defects of humeral diaphysis, Hypoplasi... |
OMIM:601376 |
| Hyperphosphatemia, Polyuria, And Seizures |
|
Hyperphosphatemia |
OMIM:239350 |
| Pseudohypoparathyroidism, Type Ia |
|
Short toe, Brachydactyly, Hypocalcemic tetany, Hyperphosphatemia, Short metatarsal, Short metacar... |
OMIM:103580 |
| Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development |
|
Absent thumb, Short femur, Short tibia, Hypoplasia of the ulna, Aplasia/Hypoplasia of the radius,... |
OMIM:612447 |
| Hypoparathyroidism-Retardation-Dysmorphism Syndrome |
|
Hypocalcemia, Small hand, Micrognathia, Hyperphosphatemia, Short foot, Short palm, Hypocalcemic s... |
OMIM:241410 |
| Pseudohypoparathyroidism, Type Ic |
|
Brachydactyly, Hypocalcemic tetany, Hyperphosphatemia, Short metatarsal, Short metacarpal |
OMIM:612462 |
| Endove Syndrome, Limb-Only Type |
|
Aplasia of the distal phalanges of the toes, Short middle phalanx of the 2nd finger, Cutaneous sy... |
OMIM:619217 |
| Tumoral Calcinosis, Hyperphosphatemic, Familial, 3 |
|
Metacarpal periosteal thickening, Achilles tendon calcification, Hyperphosphatemia, Hypercalcemia |
OMIM:617994 |
| Laurin-Sandrow Syndrome |
|
Hand polydactyly, Absent radius, Syndactyly, Triphalangeal thumb, Patellar aplasia, Short foot, B... |
OMIM:135750 |
| Pseudohypoparathyroidism Type 1B |
|
Hypocalcemia, Diaphyseal sclerosis, Laryngeal dystonia, Hypocalcemic tetany, Hyperphosphatemia, C... |
ORPHA:94089 |
| Orofaciodigital Syndrome Type 10 |
|
Mesomelic leg shortening, Short toe, Hypoplasia of proximal radius, Preaxial polydactyly, Microgn... |
ORPHA:2756 |
| Hypophosphatemic Rickets, X-Linked Dominant |
|
Metaphyseal irregularity, Hypophosphatemic rickets, Hypophosphatemia, Abnormal circulating calciu... |
OMIM:307800 |
| Autoimmune Hypoparathyroidism |
|
Hypocalcemia, Laryngeal dystonia, Hypocalcemic tetany, Hyperphosphatemia, Hypocalcemic seizures |
ORPHA:36913 |
| Dyschondrosteosis And Nephritis |
|
Ulnar bowing, Short tibia, Radial bowing, Short forearm |
OMIM:127350 |
| Hypophosphatemic Bone Disease |
|
Bowing of the legs, Hypophosphatemia |
OMIM:146350 |
| Maturity-Onset Diabetes Of The Young, Type 3 |
|
Maturity-onset diabetes of the young, Type II diabetes mellitus, Hyperglycemia |
OMIM:600496 |
| Maturity-Onset Diabetes Of The Young, Type 10 |
|
Diabetic ketoacidosis, Hyperglycemia, Maturity-onset diabetes of the young, Diabetes mellitus |
OMIM:613370 |
| Diabetes Mellitus, Permanent Neonatal, 4 |
|
Diabetic ketoacidosis, Elevated hemoglobin A1c, Type I diabetes mellitus, Reduced C-peptide level... |
OMIM:618858 |
| Blount Disease |
|
Abnormality of the knee, Abnormal tibial metaphysis morphology, Tibial bowing, Abnormality of the... |
ORPHA:2768 |
| Tibial Hemimelia |
|
Radial club hand, Aplasia of the 2nd metacarpal, Talipes equinovarus, Absent hallux, Polydactyly,... |
ORPHA:93322 |
| Hyperphosphatasia With Impaired Intellectual Development Syndrome 3 |
|
Hyperphosphatemia |
OMIM:614207 |
| Pseudohypoparathyroidism Type 1C |
|
Short fifth metatarsal, Hypocalcemia, Laryngeal dystonia, Brachydactyly, Short 3rd metacarpal, Sh... |
ORPHA:79444 |
| Orofaciodigital Syndrome Viii |
|
Short tibia, Syndactyly, Polydactyly |
OMIM:300484 |
| Tibial Aplasia-Ectrodactyly Syndrome |
|
Aplasia/Hypoplasia of the ulna, Abnormality of femur morphology, Ectrodactyly, Aplasia/Hypoplasia... |
ORPHA:3329 |
| Acrodysostosis 1 With Or Without Hormone Resistance |
|
Dislocated radial head, Long hallux, Cone-shaped epiphyses of the phalanges of the hand, Hypoplas... |
OMIM:101800 |
| Spondyloepimetaphyseal Dysplasia, Missouri Type |
|
Metaphyseal irregularity, Tibial bowing, Femoral bowing, Flared metaphysis, Genu varum, Flattened... |
ORPHA:93356 |
| Acrofacial Dysostosis Syndrome Of Rodriguez |
|
Overlapping toe, Talipes equinovarus, Micrognathia, Short tibia, 11 pairs of ribs, Triphalangeal ... |
OMIM:201170 |
| Tibial Hemimelia-Polysyndactyly-Triphalangeal Thumb Syndrome |
|
Aplasia/Hypoplasia of the tibia, Synostosis of carpal bones, Abnormality of fibula morphology, Pa... |
ORPHA:988 |
| Femur, Unilateral Bifid, With Monodactylous Ectrodactyly |
|
Aplasia of the ulna, Hand monodactyly, Bifid femur, Split hand, Foot monodactyly, Absent tibia |
OMIM:228250 |
| Paget Disease Of Bone 5, Juvenile-Onset |
|
Hydroxyprolinemia, Short humerus, Lateral femoral bowing, Hyperphosphatemia, Hyperuricemia, Bowin... |
OMIM:239000 |
| Vitamin D Hydroxylation-Deficient Rickets, Type 1B |
|
Metaphyseal irregularity, Tibial bowing, Hypophosphatemia, Delayed epiphyseal ossification, Bowin... |
OMIM:600081 |
| Hypophosphatemic Rickets, Autosomal Recessive, 1 |
|
Hypophosphatemic rickets, Hypophosphatemia |
OMIM:241520 |
| Calciphylaxis |
|
Hyperphosphatemia |
ORPHA:280062 |
| Sanjad-Sakati Syndrome |
|
Hypocalcemia, Small hand, Micrognathia, Hyperphosphatemia, Short foot |
ORPHA:2323 |
| Genetic Recurrent Myoglobinuria |
|
Highly elevated creatine kinase, Hypocalcemia, Hyperphosphatemia, Hyperkalemia |
ORPHA:99845 |
| Congenital Disorder Of Glycosylation, Type Ig |
|
Hypocalcemia, Talipes equinovarus, Short ribs, Hypoplasia of the radius, Short femur, Short tibia... |
OMIM:607143 |
| Pseudohypoparathyroidism Type 1A |
|
Short fifth metatarsal, Hypocalcemia, Laryngeal dystonia, Brachydactyly, Short 3rd metacarpal, Sh... |
ORPHA:79443 |
| Fanconi Renotubular Syndrome 5 |
|
Hypophosphatemic rickets, Hypophosphatemia, Glycosuria, Genu valgum |
OMIM:618913 |
| Acromesomelic Dysplasia 2B |
|
Short metatarsal, Talipes equinovalgus, Brachydactyly, Short phalanx of finger, Deviation of fing... |
OMIM:228900 |
| Split-Hand/Foot Malformation With Long Bone Deficiency 1 |
|
Aplasia/Hypoplasia of the ulna, Aplasia of the 3rd finger, Split foot, Short hallux, Hand monodac... |
OMIM:119100 |
| Diabetes Mellitus, Permanent Neonatal, 1 |
|
Elevated hemoglobin A1c, Type I diabetes mellitus, Reduced C-peptide level, Diabetes mellitus, Hy... |
OMIM:606176 |
| Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly |
|
Aplasia/Hypoplasia of the ulna, Hypoplasia of the radius, Femoral bowing, Congenital hip dislocat... |
OMIM:228930 |
| Glycogen Storage Disease 0, Liver |
|
Postprandial hyperglycemia, Neonatal hypoglycemia, Fasting hypoglycemia |
OMIM:240600 |
| Diabetes Mellitus, Transient Neonatal, 3 |
|
Transient neonatal diabetes mellitus, Elevated hemoglobin A1c, Maternal diabetes, Hyperglycemia |
OMIM:610582 |
| Mesomelic Dysplasia, Savarirayan Type |
|
Hypoplasia of proximal radius, Flared radial metaphysis, High iliac wing, Metatarsus valgus, Glen... |
ORPHA:85170 |
| Kenny-Caffey Syndrome, Type 2 |
|
Hypocalcemia, Abnormality of the medullary cavity of the long bones, Hyperphosphatemia, Transient... |
OMIM:127000 |
| Hypophosphatemic Rickets, X-Linked Recessive |
|
Metaphyseal irregularity, Hypophosphatemic rickets, Hypophosphatemia, Tibial bowing, Delayed epip... |
OMIM:300554 |
| Hypophosphatemic Rickets With Hypercalciuria, Hereditary |
|
Metaphyseal irregularity, Hypophosphatemic rickets, Hypophosphatemia, Tibial bowing, Delayed epip... |
OMIM:241530 |
| Acrodysostosis With Multiple Hormone Resistance |
|
Short toe, Hypocalcemia, Hypoplastic vertebral bodies, Absent/hypoplastic paranasal sinuses, Cone... |
ORPHA:280651 |
| Orofaciodigital Syndrome Iv |
|
Postaxial polydactyly, Micrognathia, Short tibia, Brachydactyly, Short finger, Clinodactyly, Hand... |
OMIM:258860 |
| Neuroleptic Malignant Syndrome |
|
Hypomagnesemia, Hypocalcemia, Oculogyric crisis, Elevated circulating creatine kinase concentrati... |
ORPHA:94093 |
| Vitamin D Hydroxylation-Deficient Rickets, Type 1A |
|
Metaphyseal irregularity, Tibial bowing, Hypophosphatemia, Subperiosteal bone resorption, Delayed... |
OMIM:264700 |
| Multiple Epiphyseal Dysplasia With Robin Phenotype |
|
Dislocated radial head, Coxa vara, Flat capital femoral epiphysis, Talipes equinovarus, Short fem... |
OMIM:601560 |
| Eiken Syndrome |
|
Epiphyseal dysplasia, Metaphyseal irregularity, Short toe, Delayed epiphyseal ossification, Abnor... |
ORPHA:79106 |
| Hyperproinsulinemia |
|
Hyperinsulinemia, Hyperglycemia |
OMIM:616214 |
| Tumoral Calcinosis, Hyperphosphatemic, Familial, 1 |
|
Calcinosis, Hyperphosphatemia |
OMIM:211900 |
| Hypophosphatemic Rickets, Autosomal Dominant |
|
Hypophosphatemic rickets, Hypophosphatemia, Abnormality of the lower limb |
OMIM:193100 |
| Hypercalcemia, Infantile, 2 |
|
Hypophosphatemia, Hypercalcemia |
OMIM:616963 |
| Linear Verrucous Nevus Syndrome |
|
Hypophosphatemia, Genu recurvatum, Talipes, Short metacarpal, Toe syndactyly |
ORPHA:2611 |
| Metaphyseal Dysplasia, Braun-Tinschert Type |
|
Upper limb metaphyseal widening, Humerus varus, Hypoplasia of the ulna, Flared femoral metaphysis... |
ORPHA:85188 |
| Short Rib-Polydactyly Syndrome |
|
Cone-shaped epiphysis, Micromelia, Bowing of the long bones, Short long bone, Acetabular spurs, M... |
ORPHA:1505 |
| Slc35A2-Cdg |
|
Talipes equinovarus, Increased circulating thyroglobulin level, Short tibia, Aplasia/hypoplasia i... |
ORPHA:356961 |
| Vitamin D-Dependent Rickets, Type 2A |
|
Metaphyseal irregularity, Tibial bowing, Hypophosphatemia, Subperiosteal bone resorption, Delayed... |
OMIM:277440 |
| Acheiropodia |
|
Aplasia of the ulna, Absent hand, Upper limb phocomelia, Short humerus, Abnormal epiphysis morpho... |
ORPHA:931 |
| Weismann-Netter Syndrome |
|
Abnormality of femur morphology, Tibial bowing, Abnormal morphology of ulna, Abnormal hip bone mo... |
ORPHA:3344 |
| Microcephaly-Micromelia Syndrome |
|
Forearm undergrowth, Talipes equinovarus, Micrognathia, Short tibia, Micromelia, Oligodactyly, Hu... |
OMIM:251230 |
| Dent Disease 1 |
|
Metaphyseal irregularity, Tibial bowing, Hypophosphatemia, Delayed epiphyseal ossification, Bowin... |
OMIM:300009 |
| Pseudohypoparathyroidism With Albright Hereditary Osteodystrophy |
|
Hyperphosphatemia, Abnormal hip bone morphology |
ORPHA:457059 |
| Robin Sequence With Cleft Mandible And Limb Anomalies |
|
Hypoplasia of the radius, Hip subluxation, Clinodactyly of the 5th finger, Talipes equinovarus, M... |
OMIM:268305 |
| Diabetes Mellitus, Permanent Neonatal, 2 |
|
Type I diabetes mellitus, Reduced C-peptide level, Hyperglycemia |
OMIM:618856 |
| Malignant Hyperthermia Of Anesthesia |
|
Elevated creatine kinase after exercise, Hyperphosphatemia, Hyperkalemia |
ORPHA:423 |
| Dent Disease 2 |
|
Hypophosphatemia, Elevated circulating creatine kinase concentration |
OMIM:300555 |
| Multiple Epiphyseal Dysplasia, Lowry Type |
|
Dislocated radial head, Epiphyseal dysplasia, Fragmented epiphyses, Delayed epiphyseal ossificati... |
ORPHA:166016 |
| Metaphyseal Chondrodysplasia, Jansen Type |
|
Clinodactyly of the 5th finger, Hypophosphatemia, Metaphyseal cupping, Short ribs, Micrognathia, ... |
OMIM:156400 |
| Autosomal Dominant Hypophosphatemic Rickets |
|
Bowing of the legs, Hypophosphatemia, Hypocalcemia |
ORPHA:89937 |
| Oncogenic Osteomalacia |
|
Abnormality of femur morphology, Tibial bowing, Hypophosphatemia, Hypocalcemia, Abnormality of fi... |
ORPHA:352540 |
| Fanconi Renotubular Syndrome 2 |
|
Hypophosphatemia, Glycosuria |
OMIM:613388 |
| Autosomal Dominant Hypocalcemia |
|
Writer's cramp, Hypomagnesemia, Hypocalcemia, Hyperphosphatemia |
ORPHA:428 |
| Stuve-Wiedemann Syndrome 1 |
|
Femoral bowing, Ulnar deviation of finger, Contracture of the proximal interphalangeal joint of t... |
OMIM:601559 |
| Fanconi-Bickel Syndrome |
|
Postprandial hyperglycemia, Hypophosphatemia, Glycosuria, Impaired glucose tolerance, Hypertrigly... |
ORPHA:2088 |
| Autosomal Dominant Kenny-Caffey Syndrome |
|
Cortical thickening of long bone diaphyses, Stenosis of the medullary cavity of the long bones, H... |
ORPHA:93325 |
| Laurin-Sandrow Syndrome |
|
Preaxial foot polydactyly, Absent tibia, Absent radius, Preaxial hand polydactyly, Limb duplicati... |
ORPHA:2378 |
| Hypocalcemic Vitamin D-Resistant Rickets |
|
Hypophosphatemia, Hypocalcemia, Abnormal hip bone morphology, Genu varum, Genu valgum, Abnormal m... |
ORPHA:93160 |
| Brachydactyly-Ectrodactyly With Fibular Aplasia Or Hypoplasia |
|
Split foot, Aplasia/Hypoplasia of the fibula, Brachydactyly, Short phalanx of finger, Fibular apl... |
OMIM:113310 |
| Hereditary Hypophosphatemic Rickets With Hypercalciuria |
|
Bowing of the legs, Hypophosphatemic rickets, Hypophosphatemia, Increased circulating beta-C-term... |
ORPHA:157215 |
| Atelosteogenesis Type Iii |
|
Talipes equinovarus, Hand clenching, Absent humerus, Knee dislocation, Micrognathia, Distal taper... |
ORPHA:56305 |
| Microphthalmia With Limb Anomalies |
|
Sandal gap, Bowing of the long bones, Short long bone, Clinodactyly of the 5th finger, Talipes eq... |
ORPHA:1106 |
| Orofaciodigital Syndrome Ix |
|
Hand polydactyly, Short tibia, Camptodactyly, Toe syndactyly |
OMIM:258865 |
| Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young |
|
Hypophosphatemia, Glycosuria, Hypoglycemia, Diabetes mellitus, Hypouricemia |
OMIM:616026 |
| Mesomelic Dwarfism, Reinhardt-Pfeiffer Type |
|
Abnormal morphology of ulna, Micromelia, Synostosis of carpal bones, Abnormality of tibia morphol... |
ORPHA:2634 |
| Femoral-Facial Syndrome |
|
Coxa vara, Talipes equinovarus, Aplasia/Hypoplasia of the tibia, Short femur, Micrognathia, Mater... |
ORPHA:1988 |
| Hypocalcemic Vitamin D-Dependent Rickets |
|
Delayed epiphyseal ossification, Tibial bowing, Hypophosphatemia, Subperiosteal bone resorption, ... |
ORPHA:289157 |
| Diabetes Mellitus, Transient Neonatal, 1 |
|
Transient neonatal diabetes mellitus, Hyperglycemia |
OMIM:601410 |
| Fanconi Renotubular Syndrome 1 |
|
Hypophosphatemia, Glycosuria, Hypokalemia |
OMIM:134600 |
| Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia |
|
Hypoplasia of the radius, Hypoplasia of the ulna, Talipes equinovarus, Aplasia/Hypoplasia of the ... |
OMIM:609945 |
| Type 1 Diabetes Mellitus |
|
Hyperglycemia, Decreased level of 1,5 anhydroglucitol in serum, Diabetes mellitus |
OMIM:222100 |
| Metaphyseal Acroscyphodysplasia |
|
Cone-shaped metacarpal epiphyses, Cone-shaped epiphyses of the phalanges of the hand, Short toe, ... |
OMIM:250215 |
| Faciocardiomelic Dysplasia, Lethal |
|
Hypoplasia of the radius, Micrognathia, Short 5th finger, Hypoplasia of the ulna, Talipes, Radial... |
OMIM:227270 |
| Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis |
|
Hypophosphatemia, Glycosuria |
OMIM:308990 |
| Opsismodysplasia |
|
Hypophosphatemia, Metaphyseal cupping, Hypoplastic vertebral bodies, Short metacarpal, Hypoplasti... |
OMIM:258480 |
| Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies |
|
Glucose intolerance, Hyperglycemia |
OMIM:307500 |
| Acromesomelic Dysplasia 3 |
|
Carpal synostosis, Short toe, Talipes equinovarus, Bilateral talipes equinovarus, Short 1st metac... |
OMIM:609441 |
| Tibial Hemimelia |
|
Absent tibia |
OMIM:275220 |
| Familial Isolated Hyperparathyroidism |
|
Infantile hypercalcemia, Hypophosphatemia, Hypercalcemia |
ORPHA:99879 |
| Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor |
|
Rickets of the lower limbs, Metaphyseal irregularity, Tibial bowing, Delayed epiphyseal ossificat... |
OMIM:600785 |
| Spondyloepimetaphyseal Dysplasia, Missouri Type |
|
Coxa vara, Tibial bowing, Metaphyseal cupping, Radial bowing, Flared iliac wing, Femoral bowing, ... |
OMIM:602111 |
| Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly |
|
Acetabular spurs, Absent tibia, Talipes equinovarus, Metaphyseal spurs, Short ribs, Postaxial pol... |
OMIM:613091 |
| Ulna And Fibula, Hypoplasia Of |
|
Hypoplasia of the ulna, Fibular hypoplasia |
OMIM:191400 |
| Nephrolithiasis/Osteoporosis, Hypophosphatemic, 2 |
|
Hypophosphatemia |
OMIM:612287 |
| Fibular Dimelia-Diplopodia Syndrome |
|
Absent tibia |
ORPHA:1757 |
| Clubfoot, Congenital, With Or Without Deficiency Of Long Bones And/Or Mirror-Image Polydactyly |
|
Talipes equinovarus, Bilateral talipes equinovarus, Mirror image foot polydactyly, Patellar hypop... |
OMIM:119800 |
| Transient Neonatal Diabetes Mellitus |
|
Hypoinsulinemia, Maturity-onset diabetes of the young, Diabetic ketoacidosis, Maternal diabetes, ... |
ORPHA:99886 |
| Ulnar/Fibular Ray Defect And Brachydactyly |
|
Bilateral talipes equinovarus, Brachydactyly, Postaxial oligodactyly, Lower limb asymmetry, Unila... |
OMIM:608571 |
| Hydrocephalus With Associated Malformations |
|
Tibial bowing, Micrognathia, Short lower limbs, Abnormal foot morphology, Lower limb undergrowth |
OMIM:236640 |
| Combined Oxidative Phosphorylation Deficiency 55 |
|
Hypophosphatemic rickets, Hypophosphatemia, Hypomagnesemia, Talipes equinovarus, Elevated circula... |
OMIM:619743 |
| X-Linked Hypophosphatemia |
|
Bowing of the legs, Hypophosphatemia, Trapezoidal distal femoral condyles, Flared iliac wing, Upp... |
ORPHA:89936 |
| Fanconi-Bickel Syndrome |
|
Hypouricemia, Hypophosphatemia, Glycosuria, Hypokalemia |
OMIM:227810 |
| Refractory Celiac Disease |
|
Hypomagnesemia, Hypophosphatemia, Hypocalcemia, Hypoproteinemia, Hypoalbuminemia |
ORPHA:398063 |
| Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy |
|
Metaphyseal irregularity, Tibial bowing, Metaphyseal cupping, Coxa vara, Narrow greater sciatic n... |
OMIM:608940 |
| Shox-Related Short Stature |
|
Forearm undergrowth, Tibial bowing, Micrognathia, Genu valgum, Short foot, Lower limb undergrowth... |
ORPHA:314795 |
| Nephrolithiasis/Osteoporosis, Hypophosphatemic, 1 |
|
Hypophosphatemia |
OMIM:612286 |
| Osteofibrous Dysplasia, Susceptibility To |
|
Fibular hypoplasia, Pseudoarthrosis |
OMIM:607278 |
| Lipodystrophy, Familial Partial, Type 3 |
|
Hyperinsulinemia, Type II diabetes mellitus, Decreased HDL cholesterol concentration, Maternal di... |
OMIM:604367 |
| Hypophosphatemic Rickets And Hyperparathyroidism |
|
Hypophosphatemic rickets, Hypophosphatemia, Hypercalcemia |
OMIM:612089 |
| Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia |
|
Aplasia/Hypoplasia of the thumb, Mesomelic arm shortening, Short humerus, Shoulder dislocation, G... |
OMIM:171480 |
| Cystinosis |
|
Hypophosphatemia, Type I diabetes mellitus, Hypokalemia |
ORPHA:213 |
| Ophthalmomandibulomelic Dysplasia |
|
Radial bowing, Coxa valga, Lateral humeral condyle aplasia, Ulnar deviated club hands, Mesomelia,... |
OMIM:164900 |
| Omodysplasia 1 |
|
Limited knee flexion/extension, Increased fibular diameter, Micrognathia, Limited knee flexion, S... |
OMIM:258315 |
| Exercise-Induced Malignant Hyperthermia |
|
Elevated circulating creatine kinase concentration, Hyperphosphatemia, Hyperkalemia, Hypocalcemia |
ORPHA:466650 |
| Thrombocytopenia-Absent Radius Syndrome |
|
Aplasia/Hypoplasia of the ulna, Clinodactyly of the 5th finger, Coxa valga, Finger syndactyly, Ad... |
ORPHA:3320 |
| Fibrous Dysplasia Of Bone |
|
Abnormality of femur morphology, Coxa vara, Hypophosphatemia, Abnormal morphology of ulna, Abnorm... |
ORPHA:249 |
| Osteosclerosis With Ichthyosis And Fractures |
|
Femoral bowing, Tibial bowing, Cortical thickening of long bone diaphyses |
OMIM:166740 |
| Diabetes Mellitus, Permanent Neonatal, 3 |
|
Type I diabetes mellitus, Glycosuria, Hyperglycemia, Athetosis |
OMIM:618857 |
| Grant Syndrome |
|
Micrognathia, Tibial bowing, Down-sloping shoulders |
OMIM:138930 |
| Mody |
|
Glucose intolerance, Hypoinsulinemia, Hyperinsulinemic hypoglycemia, Abnormal C-peptide level, El... |
ORPHA:552 |
| Hemorrhagic Fever-Renal Syndrome |
|
Elevated circulating creatinine concentration, Hyperphosphatemia, Hyperkalemia |
ORPHA:340 |
| Orofaciodigital Syndrome Type 2 |
|
Mesomelic leg shortening, Cone-shaped epiphyses of the phalanges of the hand, Broad first metatar... |
ORPHA:2751 |
| Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities |
|
Postprandial hyperglycemia, Hyperinsulinemia, Diabetic ketoacidosis, Hypoglycemia, Insulin-resist... |
OMIM:262190 |
| Hyperparathyroidism, Neonatal Severe |
|
Calcinosis, Metaphyseal irregularity, Hypophosphatemia, Hypercalcemia |
OMIM:239200 |
| Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly |
|
Short ribs, Brachydactyly, Postaxial polysyndactyly of foot, Postaxial hand polydactyly, Mesomeli... |
OMIM:263520 |
| Short-Rib Thoracic Dysplasia 20 With Polydactyly |
|
Narrow greater sciatic notch, Postaxial polydactyly, Short ribs, Micrognathia, Preaxial polydacty... |
OMIM:617925 |
| Colchicine Poisoning |
|
Hypomagnesemia, Hypophosphatemia, Hypokalemia, Hypocalcemia, Abnormal blood ion concentration, Hy... |
ORPHA:31824 |
| Microphthalmia With Limb Anomalies |
|
Tibial bowing, Talipes equinovarus, Hand oligodactyly, Camptodactyly of 2nd-5th fingers, Postaxia... |
OMIM:206920 |
| Dent Disease |
|
Metaphyseal irregularity, Delayed epiphyseal ossification, Bowing of the legs, Renal hypophosphat... |
ORPHA:1652 |
| Autosomal Recessive Hypophosphatemic Rickets |
|
Rickets of the lower limbs, Coxa vara, Hypophosphatemic rickets, Tibial bowing, Distal femoral bo... |
ORPHA:289176 |
| Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14 |
|
Flexion contracture of thumb, Absent glenoid fossa, Clinodactyly of the 3rd finger, Short 1st met... |
ORPHA:96334 |
| Uremic Pruritus |
|
Increased blood urea nitrogen, Hypercalcemia, Hypermagnesemia, Renal hypophosphatemia |
ORPHA:94059 |
| Thyrotoxic Periodic Paralysis |
|
Postprandial hyperglycemia, Hypomagnesemia, Episodic hypokalemia, Mildly elevated creatine kinase... |
ORPHA:79102 |
| Dyggve-Melchior-Clausen Disease |
|
Cone-shaped epiphyses of the phalanges of the hand, Femoral bowing, Rhizomelic arm shortening, Ge... |
OMIM:223800 |
| Lipodystrophy, Familial Partial, Type 1 |
|
Hypertriglyceridemia, Insulin-resistant diabetes mellitus, Hyperglycemia |
OMIM:608600 |
| Bardet-Biedl Syndrome 9 |
|
Postaxial polydactyly, Syndactyly, Brachydactyly, Polydactyly, Postaxial hand polydactyly, Postax... |
OMIM:615986 |
| Hereditary Fructose Intolerance |
|
Reactive hypoglycemia, Hypophosphatemia, Hyperuricemia, Hypermagnesemia |
ORPHA:469 |
| Juvenile Nephropathic Cystinosis |
|
Hypophosphatemia, Hypokalemia, Hypocalcemia, Glycosuria, Abnormal long bone morphology, Hypocalce... |
ORPHA:411634 |
| Eiken Syndrome |
|
Delayed epiphyseal ossification, Long hallux, Delayed tarsal ossification, Delayed ossification o... |
OMIM:600002 |
| Orofaciodigital Syndrome X |
|
Preaxial hand polydactyly, Coalescence of tarsal bones, Fibular aplasia, Hand oligodactyly |
OMIM:165590 |
| Primary Fanconi Renotubular Syndrome |
|
Hypophosphatemic rickets, Hypophosphatemia, Hypokalemia, Glycosuria, Hypoglycemia, Decreased plas... |
ORPHA:3337 |
| Atelosteogenesis, Type I |
|
Aplasia/Hypoplasia of the ulna, 11 pairs of ribs, Rhizomelia, Clubbing, Multinucleated giant chon... |
OMIM:108720 |
| Brachymesomelia-Renal Syndrome |
|
Hypoplasia of the radius, Micrognathia, Mesomelic arm shortening, Fibular hypoplasia, Ulnar bowing |
OMIM:113470 |
| Acrofacial Dysostosis, RodrÃguez Type |
|
Aplasia/Hypoplasia of the ulna, Microretrognathia, Talipes equinovarus, Hand oligodactyly, Radiou... |
ORPHA:1788 |
| Hypocalciuric Hypercalcemia, Familial, Type Iii |
|
Hypophosphatemia, Hypercalcemia, Hypermagnesemia |
OMIM:600740 |
| Otopalatodigital Syndrome, Type Ii |
|
Radial deviation of the 2nd finger, Femoral bowing, Congenital hip dislocation, Rudimentary fibul... |
OMIM:304120 |
| Tibia, Absence Or Hypoplasia Of, With Polydactyly, Retrocerebellar Arachnoid Cyst, And Other Anomalies |
|
Radial bowing, Talipes equinovarus, Aplasia/Hypoplasia of the tibia, Postaxial foot polydactyly, ... |
OMIM:601027 |
| Acro-Renal-Mandibular Syndrome |
|
Split foot, Hypoplasia of the radius, Micrognathia, Rudimentary fibula, Rudimentary to absent tib... |
ORPHA:958 |
| Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Glucose intolerance, Short clavicles, Hyperlipidemia, Hyperinsulinemia, Micrognathia, Acroosteoly... |
OMIM:608612 |
| Fibrochondrogenesis 1 |
|
Short palm, Clinodactyly of the 5th finger, Narrow greater sciatic notch, Short ribs, Small hand,... |
OMIM:228520 |
| Raine Syndrome |
|
Long hallux, Hypophosphatemia, Micrognathia, Micromelia, Brachydactyly, Bowing of the long bones |
OMIM:259775 |
| Insulin-Resistance Syndrome Type B |
|
Postprandial hyperglycemia, Glucose intolerance, Hyperinsulinemia, Type II diabetes mellitus, Abn... |
ORPHA:2298 |
| Kyphomelic Dysplasia |
|
Tibial bowing, Radial bowing, Talipes equinovarus, Short femur, Femoral bowing, Micrognathia, Sho... |
OMIM:211350 |
| Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Short distal phalanx of finger, Short clavicles, Hyperlipidemia, Hyperinsulinemia, Micrognathia, ... |
OMIM:248370 |
| Infantile Nephropathic Cystinosis |
|
Abnormal blood ion concentration, Hypophosphatemia, Glycosuria, Hypokalemia |
ORPHA:411629 |
| Cystinosis, Nephropathic |
|
Hypomagnesemia, Hypophosphatemic rickets, Hypophosphatemia, Hypokalemia, Metaphyseal widening, Gl... |
OMIM:219800 |
| Autosomal Recessive Malignant Osteopetrosis |
|
Hypophosphatemia, Hypocalcemia, Tremor, Abnormal epiphysis morphology, Bowing of the long bones, ... |
ORPHA:667 |
| Occipital Horn Syndrome |
|
Coxa vara, Large iliac wing, Coxa valga, Aplasia/hypoplasia of the humerus, Abnormality of the pu... |
ORPHA:198 |
| Craniosynostosis With Fibular Aplasia |
|
Fibular aplasia |
OMIM:218550 |
| Fructose Intolerance, Hereditary |
|
Hypophosphatemia, Hyperbilirubinemia, Glycosuria, Hypoglycemia, Bicarbonaturia, Hyperuricemia |
OMIM:229600 |
| Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly |
|
Metaphyseal irregularity, Cone-shaped epiphyses of the phalanges of the hand, Short ribs, Early o... |
OMIM:208500 |
| Familial Hypocalciuric Hypercalcemia |
|
Renal hypophosphatemia, Hypercalcemia, Hypermagnesemia, Infantile hypercalcemia, Hypocalcemic sei... |
ORPHA:405 |
| Phocomelia, Schinzel Type |
|
Aplasia of the ulna, Ectrodactyly, Radial bowing, Hand oligodactyly, Hypoplasia of the radius, Mi... |
ORPHA:2879 |
| Boomerang Dysplasia |
|
Hypoplastic iliac body, Fibular aplasia, Absent radius |
OMIM:112310 |
| Thrombocytopenia-Absent Radius Syndrome |
|
Absent thumb, Hypoplasia of the radius, Femoral bowing, Hypoplasia of the ulna, Patellar dislocat... |
OMIM:274000 |
| Alport Syndrome 3, Autosomal Dominant |
|
Azotemia, Hypophosphatemia |
OMIM:104200 |
| Mccune-Albright Syndrome |
|
Abnormality of femur morphology, Hypophosphatemia |
ORPHA:562 |
| Acrorenal-Mandibular Syndrome |
|
Split foot, Hypoplasia of the radius, Micrognathia, Hand polydactyly, Rudimentary fibula, Rudimen... |
OMIM:200980 |
| Campomelic Dysplasia |
|
Small abnormally formed scapulae, Tibial bowing, Talipes equinovarus, Femoral bowing, Micrognathi... |
ORPHA:140 |
| Pearson Syndrome |
|
Hypomagnesemia, Hypophosphatemia, Hypocalcemia, Hypokalemia, Glycosuria, Diabetes mellitus, Hyper... |
ORPHA:699 |
| Dend Syndrome |
|
Elevated hemoglobin A1c, Clinodactyly of the 4th finger, Hyperglycemia |
ORPHA:79134 |
| Schneckenbecken Dysplasia |
|
Hypoplastic vertebral bodies, Short ribs, Increased fibular diameter, Hypoplastic ilia, Micromeli... |
ORPHA:3144 |
| Acromelic Frontonasal Dysplasia |
|
Patellar hypoplasia, Preaxial foot polydactyly, Talipes equinovarus, Aplasia/Hypoplasia of the tibia |
ORPHA:1827 |
| Oculocerebrorenal Syndrome Of Lowe |
|
Hypophosphatemia, Hypokalemia, Hypoammonemia, Micrognathia, Genu valgum, Abnormal epiphysis morph... |
ORPHA:534 |
| Hydrolethalus Syndrome 1 |
|
Talipes equinovarus, Micrognathia, Proximal tibial hypoplasia, Upper limb undergrowth, Postaxial ... |
OMIM:236680 |
| Hypophosphatemic Rickets |
|
Abnormal lower limb bone morphology, Hypophosphatemia, Hypercalcemia, Bowing of the long bones |
ORPHA:437 |
| Ulna And Fibula, Absence Of, With Severe Limb Deficiency |
|
Hypoplasia of the radius, Femoral bowing, Aplasia/Hypoplasia of the phalanges of the hand, Carpal... |
OMIM:276820 |
| Campomelic Dysplasia |
|
Femoral bowing, Short 1st metacarpal, 11 pairs of ribs, Bowing of the long bones, Anterior tibial... |
OMIM:114290 |
| Hyperparathyroidism-Jaw Tumor Syndrome |
|
Infantile hypercalcemia, Hypophosphatemia, Hypercalcemia |
ORPHA:99880 |
| Parathyroid Carcinoma |
|
Infantile hypercalcemia, Hypophosphatemia, Hypercalcemia |
ORPHA:143 |
| Cranioectodermal Dysplasia 1 |
|
Short distal phalanx of finger, Short toe, Hypocalcemia, Short ribs, Short humerus, Brachydactyly... |
OMIM:218330 |
| Camptodactyly Syndrome, Guadalajara, Type I |
|
Absent ethmoidal sinuses, Short metatarsal, Camptodactyly of 2nd-5th fingers, Brachydactyly, Shor... |
OMIM:211910 |
| Orofaciodigital Syndrome Type 4 |
|
Aplasia/Hypoplasia of the tibia, Finger syndactyly, Micrognathia, Preaxial hand polydactyly, Camp... |
ORPHA:2753 |
| Charge Syndrome |
|
Absent tibia, Hypocalcemia, Bilateral talipes equinovarus, Absent radius, Micrognathia, Down-slop... |
OMIM:214800 |
