Spondyloepiphyseal Dysplasia, Nishimura Type |
|
Delayed epiphyseal ossification, Small hand, Hyperphosphatemia, Hypocalcemia, Brachydactyly, Cone... |
OMIM:618618 |
Chondrodysplasia Punctata, Tibia-Metacarpal Type |
|
Short 3rd metacarpal, Short tibia, Micromelia, Epiphyseal stippling, Short 4th metacarpal, Limb u... |
OMIM:118651 |
Acromesomelic Dysplasia 2A |
|
Acromesomelia, Short tibia, Aplasia/Hypoplasia involving the metacarpal bones, Distal tibiofibula... |
OMIM:200700 |
Pseudohypoparathyroidism, Type Ia |
|
Hyperphosphatemia, Short toe, Short finger, Hypocalcemic tetany, Subcutaneous ossification, Brach... |
OMIM:103580 |
Intellectual Developmental Disorder, Autosomal Recessive 3 |
|
Short attention span, Hyperactivity |
OMIM:608443 |
Attention Deficit-Hyperactivity Disorder |
|
Attention deficit hyperactivity disorder, Hyperactivity |
OMIM:143465 |
Syndactyly Type 4 |
|
Toe syndactyly, Short tibia, Camptodactyly of finger, Hand polydactyly, Triphalangeal thumb, Foot... |
ORPHA:93405 |
Pseudohypoparathyroidism Type 1B |
|
Depression, Hyperphosphatemia, Hypocalcemic tetany, Increased bone density with cystic changes, H... |
ORPHA:94089 |
Potocki-Lupski syndrome (17p11.2 duplication syndrome) |
|
Short attention span, Hyperactivity |
DECIPHER:19 |
Autoimmune Hypoparathyroidism |
|
Depression, Hyperphosphatemia, Hypocalcemic tetany, Confusion, Hypocalcemia, Irritability, Increa... |
ORPHA:36913 |
Fibular Hemimelia |
|
Toe syndactyly, Finger syndactyly, Short tibia, Limited knee flexion/extension, Difficulty walkin... |
ORPHA:93323 |
Acromesomelic Dysplasia 2C |
|
Shortening of all middle phalanges of the fingers, Hip dislocation, Short tibia, Radial bowing, S... |
OMIM:201250 |
Pseudohypoparathyroidism, Type Ic |
|
Hyperphosphatemia, Hypocalcemic tetany, Hypocalcemia, Brachydactyly, Cognitive impairment, Osteop... |
OMIM:612462 |
Hypoparathyroidism, Familial Isolated, 1 |
|
Hypocalcemic seizures, Hyperphosphatemia, Hypocalcemia, Irritability |
OMIM:146200 |
Osebold-Remondini Syndrome |
|
Mesomelia, Short tibia, Short toe, Type A brachydactyly, Radial deviation of finger, Carpal synos... |
OMIM:112910 |
Pseudohypoparathyroidism, Type Ib |
|
Short metacarpal, Brachydactyly, Hyperphosphatemia, Hypocalcemia |
OMIM:603233 |
Vitamin D-Dependent Rickets, Type 3 |
|
Osteopenia, Metaphyseal cupping, Flared metaphysis, Hypocalcemia, Hypophosphatemia, Genu varum, B... |
OMIM:619073 |
Pseudohypoparathyroidism Type 1C |
|
Short fifth metatarsal, Broad distal phalanx of the thumb, Depression, Hyperphosphatemia, Short 3... |
ORPHA:79444 |
Hypoparathyroidism, Familial Isolated, 2 |
|
Hypocalcemic seizures, Hyperphosphatemia, Hypocalcemia |
OMIM:618883 |
Acromesomelic Dysplasia, Grebe Type |
|
Synostosis of carpal bones, Short tibia, Micromelia, Short toe, Aplasia of the middle phalanges o... |
ORPHA:2098 |
Pseudohypoparathyroidism Type 1A |
|
Hyperphosphatemia, Polyphagia, Calcinosis, Short metacarpal, Choreoathetosis, Broad distal phalan... |
ORPHA:79443 |
Leri-Weill Dyschondrosteosis |
|
Abnormal femoral neck morphology, Short tibia, Radial bowing, Short toe, Abnormal metatarsal morp... |
OMIM:127300 |
Blue Diaper Syndrome |
|
Hypercalcemia, Increased proinsulin:insulin ratio, Hyperphosphatemia, Recurrent hypoglycemia |
ORPHA:94086 |
Léri-Weill Dyschondrosteosis |
|
Short tibia, Radial bowing, Abnormal tibia morphology, Genu valgum, Patellar aplasia, Diaphyseal ... |
ORPHA:240 |
Langer Mesomelic Dysplasia |
|
Short tibia, Radial bowing, Rudimentary fibula, Rhizomelic arm shortening, Micrognathia, Broad ul... |
OMIM:249700 |
Pseudohypoparathyroidism Type 2 |
|
Hypocalcemic tetany, Hypocalcemic seizures, Hyperphosphatemia, Hypocalcemia |
ORPHA:94090 |
Acrocapitofemoral Dysplasia |
|
Short tibia, Radial bowing, Hypoplastic iliac wing, Dysplasia of the femoral head, Cone-shaped ep... |
OMIM:607778 |
Vitamin D Hydroxylation-Deficient Rickets, Type 1B |
|
Delayed epiphyseal ossification, Rickets, Bulging epiphyses, Difficulty walking, Fibular bowing, ... |
OMIM:600081 |
Lethal Faciocardiomelic Dysplasia |
|
Short 5th finger, Microretrognathia, Short tibia, Short thumb, Sandal gap, Radial club hand, Fibu... |
ORPHA:1972 |
Malignant Hyperthermia, Susceptibility To, 2 |
|
Hyperkalemia, Hyperphosphatemia, Elevated circulating creatine kinase concentration |
OMIM:154275 |
Vitamin D Hydroxylation-Deficient Rickets, Type 1A |
|
Delayed epiphyseal ossification, Subperiosteal bone resorption, Rickets, Bulging epiphyses, Diffi... |
OMIM:264700 |
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3 |
|
Osteopenia, Hyperphosphatemia, Polydipsia, Metacarpal periosteal thickening, Calvarial osteoscler... |
OMIM:617994 |
Hypophosphatemic Rickets, X-Linked Dominant |
|
Shortening of the talar neck, Abnormal pelvic girdle bone morphology, Rickets, Osteomalacia, Trap... |
OMIM:307800 |
Malignant Hyperthermia, Susceptibility To, 3 |
|
Hyperkalemia, Hyperphosphatemia, Elevated circulating creatine kinase concentration |
OMIM:154276 |
Pseudohypoparathyroidism, Type Ii |
|
Hyperphosphatemia, Hypocalcemia |
OMIM:203330 |
Hypocalcemia, Autosomal Dominant 1 |
|
Hyperphosphatemia, Hypomagnesemia, Hypocalcemia, Hypokalemia, Increased circulating renin level |
OMIM:601198 |
Hypoparathyroidism-Retardation-Dysmorphism Syndrome |
|
Patchy osteosclerosis, Small hand, Hyperphosphatemia, Micrognathia, Hypocalcemia, Short foot, Hyp... |
OMIM:241410 |
Vitamin D-Dependent Rickets, Type 2A |
|
Delayed epiphyseal ossification, Subperiosteal bone resorption, Rickets, Bulging epiphyses, Diffi... |
OMIM:277440 |
Paget Disease Of Bone 5, Juvenile-Onset |
|
Osteopenia, Hyperphosphatemia, Hyperuricemia, Lateral femoral bowing, Bowing of the long bones, H... |
OMIM:239000 |
Hypophosphatemic Rickets With Hypercalciuria, Hereditary |
|
Delayed epiphyseal ossification, Rickets, Bulging epiphyses, Difficulty walking, Hypophosphatemic... |
OMIM:241530 |
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland |
|
Hypocalcemic seizures, Hyperphosphatemia, Hypocalcemia, Hypomagnesemia |
ORPHA:2239 |
Genetic Recurrent Myoglobinuria |
|
Hyperphosphatemia, Fatigable weakness of swallowing muscles, Difficulty walking, Hypocalcemia, Hy... |
ORPHA:99845 |
Malignant Hyperthermia, Susceptibility To, 1 |
|
Hyperkalemia, Hyperphosphatemia, Elevated circulating creatine kinase concentration |
OMIM:145600 |
Smith-Magenis syndrome |
|
Brachydactyly, Motor stereotypy, Hyperactivity, Self-mutilation |
DECIPHER:8 |
Acheiropody |
|
Lower limb peromelia, Short tibia, Absent radius, Fibular aplasia, Absent hand, Carpal bone aplas... |
OMIM:200500 |
Mesomelic Dysplasia, Savarirayan Type |
|
Short forearm, Short tibia, Abnormal foot morphology, Talipes equinovalgus, Mesomelic leg shorten... |
OMIM:605274 |
Autosomal Dominant Hypocalcemia |
|
Depression, Hyperphosphatemia, Hypomagnesemia, Emotional lability, Fatigable weakness, Hypocalcem... |
ORPHA:428 |
Hypocalcemic Vitamin D-Resistant Rickets |
|
Coarse metaphyseal trabecularization, Osteomalacia, Osteolysis, Abnormal hip bone morphology, Gen... |
ORPHA:93160 |
Acrodysostosis 1 With Or Without Hormone Resistance |
|
Hyperphosphatemia, Calvarial hyperostosis, Long hallux, Cone-shaped epiphyses of the phalanges of... |
OMIM:101800 |
Fraxe Intellectual Disability |
|
Stereotypical body rocking, Recurrent hand flapping, Impulsivity, Aggressive behavior, Hyperactiv... |
ORPHA:100973 |
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome |
|
Finger aplasia, Short tibia, Foot oligodactyly, Fibular aplasia, Tibial bowing, Syndactyly |
OMIM:246570 |
Hypophosphatemic Rickets, X-Linked Recessive |
|
Delayed epiphyseal ossification, Rickets, Bulging epiphyses, Osteomalacia, Femoral bowing, Fibula... |
OMIM:300554 |
Hypophosphatemic Rickets, Autosomal Recessive, 1 |
|
Rickets, Hypophosphatemic rickets, Hypophosphatemia, Craniosynostosis, Increased bone mineral den... |
OMIM:241520 |
Sanjad-Sakati Syndrome |
|
Patchy osteosclerosis, Small hand, Hyperphosphatemia, Micrognathia, Hypocalcemia, Short foot |
ORPHA:2323 |
Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development |
|
Aplasia/Hypoplasia of the radius, Absent thumb, Short tibia, Fibular hypoplasia, Hypoplasia of th... |
OMIM:612447 |
Slc35A2-Cdg |
|
Aplasia/hypoplasia involving bones of the extremities, Osteopenia, Short tibia, Camptodactyly of ... |
ORPHA:356961 |
Linear Verrucous Nevus Syndrome |
|
Genu recurvatum, Mental deterioration, Toe syndactyly, Talipes, Hypophosphatemia, Reduced bone mi... |
ORPHA:2611 |
Eiken Syndrome |
|
Abnormal fingertip morphology, Epiphyseal dysplasia, Delayed epiphyseal ossification, High iliac ... |
ORPHA:79106 |
Calciphylaxis |
|
Ectopic ossification, Hyperphosphatemia |
ORPHA:280062 |
Glycine Encephalopathy 1 |
|
Hyperglycinemia, Irritability, Aggressive behavior, Hyperactivity, Restlessness, Impulsivity |
OMIM:605899 |
Orofaciodigital Syndrome Type 10 |
|
Polysyndactyly of hallux, Radial deviation of the hand, Short tibia, Short toe, Preaxial polydact... |
ORPHA:2756 |
Hypophosphatemic Bone Disease |
|
Osteomalacia, Hypophosphatemia, Rickets, Bowing of the legs |
OMIM:146350 |
Pandas |
|
Depression, Abnormal fear-induced behavior, Oppositional defiant disorder, Obsessive-compulsive t... |
ORPHA:66624 |
Bilateral Parasagittal Parieto-Occipital Polymicrogyria |
|
Abnormal fear-induced behavior, Pseudobulbar paralysis, Abnormal digit morphology, Aggressive beh... |
ORPHA:208441 |
Hartnup Disorder |
|
Emotional lability, Attention deficit hyperactivity disorder, Hyperactivity, Episodic ataxia |
OMIM:234500 |
Hyperprolinemia, Type I |
|
Hyperprolinemia, Aggressive behavior, Hyperactivity, Ataxia, Motor stereotypy |
OMIM:239500 |
Intellectual Developmental Disorder, X-Linked 109 |
|
Stereotypical body rocking, Recurrent hand flapping, Agitation, Aggressive behavior, Hyperactivit... |
OMIM:309548 |
Hypocalcemic Vitamin D-Dependent Rickets |
|
Delayed epiphyseal ossification, Subperiosteal bone resorption, Rickets, Osteomalacia, Difficulty... |
ORPHA:289157 |
Neuroleptic Malignant Syndrome |
|
Hyperphosphatemia, Hypernatremia, Hypomagnesemia, Hypocalcemia, Hyperuricemia, Elevated circulati... |
ORPHA:94093 |
Orofaciodigital Syndrome Viii |
|
Syndactyly, Short tibia, Polydactyly |
OMIM:300484 |
Endove Syndrome, Limb-Only Type |
|
Cutaneous syndactyly of toes, Aplasia of the distal phalanges of the toes, Short middle phalanx o... |
OMIM:619217 |
Dent Disease 1 |
|
Delayed epiphyseal ossification, Rickets, Glycosuria, Bulging epiphyses, Osteomalacia, Femoral bo... |
OMIM:300009 |
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1 |
|
Hyperphosphatemia, Hyperostosis, Subperiosteal bone formation, Calcinosis, Hypercalcemia |
OMIM:211900 |
Kenny-Caffey Syndrome, Type 2 |
|
Hyperphosphatemia, Hypocalcemia, Abnormality of the medullary cavity of the long bones, Thickened... |
OMIM:127000 |
Tibia, Hypoplasia Or Aplasia Of, With Polydactyly |
|
Short tibia, Preaxial polydactyly, Triphalangeal thumb, Absent tibia, Fibular duplication |
OMIM:188740 |
Tibial Hemimelia |
|
Aplasia of the 2nd metacarpal, Short tibia, Radial club hand, Cutaneous finger syndactyly, Talipe... |
ORPHA:93322 |
Hereditary Hypophosphatemic Rickets With Hypercalciuria |
|
Increased circulating beta-C-terminal telopeptide concentration, Osteomalacia, Hypophosphatemic r... |
ORPHA:157215 |
Fibrous Dysplasia Of Bone |
|
Osteomalacia, Difficulty walking, Abnormal tibia morphology, Bowing of the long bones, Hypophosph... |
ORPHA:249 |
Developmental And Epileptic Encephalopathy 43 |
|
Attention deficit hyperactivity disorder, Hyperactivity, Impulsivity, Ataxia |
OMIM:617113 |
Acrofacial Dysostosis Syndrome Of Rodriguez |
|
Short tibia, Clinodactyly, Oligodactyly, Overlapping toe, Micrognathia, 11 pairs of ribs, Fibular... |
OMIM:201170 |
Oncogenic Osteomalacia |
|
Abnormal foot morphology, Abnormality of the tarsal bones, Abnormal femur morphology, Hypocalcemi... |
ORPHA:352540 |
Cystinosis |
|
Type I diabetes mellitus, Polydipsia, Rickets, Hypokalemia, Hypophosphatemia, Gait disturbance, M... |
ORPHA:213 |
Stuve-Wiedemann Syndrome 1 |
|
Short tibia, Micrognathia, Metaphyseal rarefaction, Talipes, Bowing of the long bones, Hypoplasti... |
OMIM:601559 |
Hypophosphatemic Rickets, Autosomal Dominant |
|
Rickets, Osteomalacia, Hypophosphatemic rickets, Abnormality of the lower limb, Hypophosphatemia |
OMIM:193100 |
Metaphyseal Chondrodysplasia, Jansen Type |
|
Osteopenia, Metaphyseal cupping, Clubbing of fingers, Micrognathia, Hip contracture, Knee flexion... |
OMIM:156400 |
Congenital Disorder Of Glycosylation, Type Ig |
|
Rhizomelia, Short tibia, Hypoglycemia, Sandal gap, Hypocalcemia, Short humerus, Short ribs, Talip... |
OMIM:607143 |
Landau-Kleffner Syndrome |
|
Depression, Memory impairment, Gait ataxia, Emotional lability, Short attention span, Aggressive ... |
ORPHA:98818 |
Encephalopathy, Progressive, With Or Without Lipodystrophy |
|
Ataxia, Mental deterioration, Hyperactivity, Hypertriglyceridemia |
OMIM:615924 |
Metaphyseal Dysplasia, Braun-Tinschert Type |
|
Radial bowing, Sclerosis of middle finger phalanx, Broad long bones, Humerus varus, Fibular bowin... |
ORPHA:85188 |
Gollop-Wolfgang Complex |
|
Aplasia/Hypoplasia of the tibia, Bifid femur, Ectrodactyly, Aplasia/Hypoplasia of the ulna, Hand ... |
ORPHA:1986 |
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor |
|
Delayed epiphyseal ossification, Rickets, Bulging epiphyses, Rickets of the lower limbs, Genu val... |
OMIM:600785 |
Lennox-Gastaut Syndrome |
|
Mental deterioration, Falls, Irritability, Aggressive behavior, Hyperactivity |
ORPHA:2382 |
Autosomal Dominant Kenny-Caffey Syndrome |
|
Hyperphosphatemia, Hypocalcemic tetany, Decreased skull ossification, Stenosis of the medullary c... |
ORPHA:93325 |
Phenylketonuria |
|
Depression, Self-mutilation, Irritability, Aggressive behavior, Attention deficit hyperactivity d... |
OMIM:261600 |
Neurodevelopmental Disorder With Microcephaly And Movement Abnormalities |
|
Talipes equinovalgus, Gait ataxia, Self-mutilation, Hyperactivity, External tibial torsion, Coxa ... |
OMIM:620445 |
Chromosome 17P13.3, Telomeric, Duplication Syndrome |
|
3-4 finger syndactyly, Short tibia, Short toe, Absent hallux, Oligodactyly, Ectrodactyly, Contrac... |
OMIM:612576 |
Intellectual Developmental Disorder, Autosomal Recessive 38 |
|
Sandal gap, Recurrent hand flapping, Self-mutilation, Aggressive behavior, Diminished ability to ... |
OMIM:615516 |
Fanconi Renotubular Syndrome 5 |
|
Hypophosphatemia, Hypophosphatemic rickets, Glycosuria, Genu valgum |
OMIM:618913 |
Autosomal Dominant Hypophosphatemic Rickets |
|
Rickets, Osteomalacia, Hypocalcemia, Hypophosphatemia, Bowing of the legs |
ORPHA:89937 |
Usmani-Riazuddin Syndrome, Autosomal Dominant |
|
Self-injurious behavior, Depression, Short finger, 2-3 toe syndactyly, Aggressive behavior, Pes p... |
OMIM:619467 |
Malignant Hyperthermia Of Anesthesia |
|
Hyperkalemia, Hyperphosphatemia, Hypercapnia, Elevated creatine kinase after exercise |
ORPHA:423 |
Fanconi-Bickel Syndrome |
|
Postprandial hyperglycemia, Osteopenia, Rickets, Glycosuria, Bowing of the long bones, Hypophosph... |
ORPHA:2088 |
Juvenile Huntington Disease |
|
Broad-based gait, Depression, Gait ataxia, Irritability, Hyperactivity, Ataxia, Dementia, Progres... |
ORPHA:248111 |
Dent Disease 2 |
|
Hypophosphatemia, Cognitive impairment, Elevated circulating creatine kinase concentration |
OMIM:300555 |
Hypomagnesemia 3, Renal |
|
Hyperphosphatemia, Increased circulating beta-C-terminal telopeptide concentration, Polydipsia, H... |
OMIM:248250 |
Laurin-Sandrow Syndrome |
|
Patellar aplasia, Broad foot, Hand polydactyly, Triphalangeal thumb, Absent tibia, Absent radius,... |
OMIM:135750 |
Orofaciodigital Syndrome Iv |
|
Toe syndactyly, Short tibia, Clinodactyly, Short finger, Micrognathia, Postaxial polydactyly, Han... |
OMIM:258860 |
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome |
|
Broad-based gait, Shuffling gait, Abnormal fear-induced behavior, Irritability, Aggressive behavi... |
ORPHA:3077 |
Microcephaly-Micromelia Syndrome |
|
Absent thumb, Short tibia, Micromelia, Oligodactyly, Micrognathia, Humeroradial synostosis, Missi... |
OMIM:251230 |
Tibial Aplasia-Ectrodactyly Syndrome |
|
Aplasia/Hypoplasia of the tibia, Finger syndactyly, Ectrodactyly, Preaxial hand polydactyly, Abno... |
ORPHA:3329 |
Bent Bone Dysplasia Syndrome 2 |
|
Osteopenia, Hypoplastic acetabulae, Short 1st metacarpal, Short tibia, Hypoplastic iliac wing, Fe... |
OMIM:620076 |
Exercise-Induced Malignant Hyperthermia |
|
Hyperphosphatemia, Confusion, Hypocalcemia, Elevated circulating creatine kinase concentration, H... |
ORPHA:466650 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type |
|
Attention deficit hyperactivity disorder, Hyperactivity, Impulsivity |
OMIM:301008 |
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly |
|
Aplasia/Hypoplasia of fingers, Toe syndactyly, Finger syndactyly, Radial bowing, Clinodactyly, Hy... |
OMIM:228930 |
X-Linked Hypophosphatemia |
|
Flattening of the talar dome, Shortening of the talar neck, Abnormal epiphysis morphology, Ricket... |
ORPHA:89936 |
Weismann-Netter Syndrome |
|
Aplasia/Hypoplasia of the radius, Abnormal tibia morphology, Abnormal hip bone morphology, Abnorm... |
ORPHA:3344 |
Microphthalmia With Limb Anomalies |
|
Toe syndactyly, Synostosis of carpal bones, Finger syndactyly, Postaxial foot polydactyly, Short ... |
ORPHA:1106 |
Neurodegeneration And Seizures Due To Copper Transport Defect |
|
Abnormal circulating copper concentration, Short tibia, Abnormal circulating ceruloplasmin concen... |
OMIM:620306 |
Robin Sequence With Cleft Mandible And Limb Anomalies |
|
Short tibia, Micrognathia, Talipes equinovarus, Short hallux, Mesomelic arm shortening, Short met... |
OMIM:268305 |
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young |
|
Hypouricemia, Rickets, Glycosuria, Hypoglycemia, Hypophosphatemia, Diabetes mellitus |
OMIM:616026 |
Brachydactyly, Type A1, C |
|
Short distal phalanx of finger, Short 1st metacarpal, Short middle phalanx of the 2nd finger, Fib... |
OMIM:615072 |
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 2 |
|
Osteoporosis, Osteopenia, Hypophosphatemia |
OMIM:612287 |
Porphyria Due To Ala Dehydratase Deficiency |
|
Ankle flexion contracture, Depression, Abnormal fear-induced behavior, Difficulty walking, Confus... |
ORPHA:100924 |
Femoral-Facial Syndrome |
|
Aplasia/Hypoplasia of the tibia, Abnormal pelvic girdle bone morphology, Preaxial foot polydactyl... |
ORPHA:1988 |
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia |
|
Broad thumb, Toe syndactyly, Shallow acetabular fossae, Hypoplastic iliac wing, Micrognathia, Tal... |
OMIM:609945 |
Orofaciodigital Syndrome Ix |
|
Camptodactyly, Hand polydactyly, Toe syndactyly, Short tibia |
OMIM:258865 |
Fanconi Renotubular Syndrome 2 |
|
Osteopenia, Rickets, Glycosuria, Osteomalacia, Hypophosphatemia |
OMIM:613388 |
Autosomal Recessive Hypophosphatemic Rickets |
|
Renal hypophosphatemia, Abnormal trabecular bone morphology, Pseudo-fractures, Lower limb asymmet... |
ORPHA:289176 |
Fanconi Renotubular Syndrome 1 |
|
Rickets, Glycosuria, Osteomalacia, Hypokalemia, Hypophosphatemia |
OMIM:134600 |
Familial Isolated Hyperparathyroidism |
|
Generalized osteoporosis, Osteopenia, Hypophosphatemia, Hypercalcemia |
ORPHA:99879 |
Multiple Epiphyseal Dysplasia, Lowry Type |
|
Epiphyseal dysplasia, Delayed epiphyseal ossification, Rhizomelia, Small epiphyses, Micrognathia,... |
ORPHA:166016 |
Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly |
|
Self-injurious behavior, Memory impairment, Inappropriate behavior, Aggressive behavior, Attentio... |
OMIM:619827 |
Split-Hand/Foot Malformation With Long Bone Deficiency 1 |
|
Patellar aplasia, Short hallux, Absent tibia, Split hand, Aplasia/Hypoplasia of the ulna, Aplasia... |
OMIM:119100 |
Hypercalcemia, Infantile, 2 |
|
Hypophosphatemia, Hypercalcemia |
OMIM:616963 |
Hemorrhagic Fever-Renal Syndrome |
|
Hyperphosphatemia, Confusion, Elevated circulating creatinine concentration, Hyperkalemia, Agitation |
ORPHA:340 |
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 1 |
|
Osteoporosis, Osteopenia, Hypophosphatemia |
OMIM:612286 |
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly |
|
Rhizomelia, Microretrognathia, Short tibia, Unicoronal synostosis, Preaxial polydactyly, Hypoplas... |
OMIM:616300 |
Acromesomelic Dysplasia 2B |
|
Deformed tarsal bones, Rhizomelia, Deviation of finger, Talipes equinovalgus, Fibular aplasia, Ma... |
OMIM:228900 |
Dyggve-Melchior-Clausen Disease |
|
Epiphyseal dysplasia, Hypoplasia of the odontoid process, Difficulty walking, Genu valgum, Metaph... |
ORPHA:239 |
Dent Disease |
|
Renal hypophosphatemia, Delayed epiphyseal ossification, Rickets, Glycosuria, Bulging epiphyses, ... |
ORPHA:1652 |
Opsismodysplasia |
|
Hypoplastic ischia, Rhizomelia, Hypoplasia of the odontoid process, Metaphyseal cupping, Hypoplas... |
OMIM:258480 |
Laurin-Sandrow Syndrome |
|
Toe syndactyly, Finger syndactyly, Mirror image polydactyly, Preaxial hand polydactyly, Limb dupl... |
ORPHA:2378 |
Refractory Celiac Disease |
|
Hypoalbuminemia, Hypomagnesemia, Hypocalcemia, Hypophosphatemia, Osteoporosis, Hypoproteinemia |
ORPHA:398063 |
Acrodysostosis 2 With Or Without Hormone Resistance |
|
Cone-shaped epiphysis, Hyperactivity, Brachydactyly, Short metatarsal, Advanced ossification of c... |
OMIM:614613 |
Atelosteogenesis Type Iii |
|
Hand clenching, Absent humerus, Short tibia, Knee dislocation, Short tubular bones of the hand, F... |
ORPHA:56305 |
2Q23.1 Microdeletion Syndrome |
|
Self-injurious behavior, Sandal gap, Polyphagia, Motor stereotypy, Hyperactivity, Ataxia, Clinoda... |
ORPHA:228402 |
Fanconi-Bickel Syndrome |
|
Hypouricemia, Postprandial hyperglycemia, Rickets, Glycosuria, Osteomalacia, Hyperbilirubinemia, ... |
OMIM:227810 |
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency |
|
Insulin resistance, Neonatal hyperbilirubinemia, Clinodactyly, Hypoglycemia, Micrognathia, Short ... |
ORPHA:73272 |
Hyperlysinemia, Type I |
|
Hypoornithinemia, Short attention span, Hyperlysinemia, Hyperactivity, Cognitive impairment, Dysd... |
OMIM:238700 |
Hypocalciuric Hypercalcemia, Familial, Type Iii |
|
Hypermagnesemia, Depression, Osteomalacia, Hypophosphatemia, Hypercalcemia |
OMIM:600740 |
Combined Oxidative Phosphorylation Deficiency 55 |
|
Hypomagnesemia, Hypophosphatemic rickets, Elevated circulating creatine kinase concentration, Tal... |
OMIM:619743 |
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis |
|
Hypophosphatemia, Glycosuria |
OMIM:308990 |
Infantile Nephropathic Cystinosis |
|
Polydipsia, Glycosuria, Rickets, Hypokalemia, Hypophosphatemia, Cognitive impairment, Abnormal bl... |
ORPHA:411629 |
Tibial Hemimelia-Polysyndactyly-Triphalangeal Thumb Syndrome |
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Aplasia/Hypoplasia of the tibia, Synostosis of carpal bones, Patellar aplasia, Aplasia/Hypoplasia... |
ORPHA:988 |
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly |
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Cone-shaped epiphysis, Metaphyseal spurs, Preaxial polydactyly, Acetabular spurs, Femoral bowing,... |
OMIM:613091 |
Femur, Unilateral Bifid, With Monodactylous Ectrodactyly |
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Bifid femur, Aplasia of the ulna, Absent tibia, Split hand, Hand monodactyly, Foot monodactyly |
OMIM:228250 |
Mesomelic Dysplasia, Savarirayan Type |
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High iliac wing, Hypoplasia of proximal radius, Fibular aplasia, Glenoid fossa hypoplasia, Metata... |
ORPHA:85170 |
Symptomatic Form Of Fragile X Syndrome In Female Carriers |
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Self-injurious behavior, Abnormal temper tantrums, Depression, Recurrent hand flapping, Short att... |
ORPHA:449291 |
Spondyloepimetaphyseal Dysplasia, Missouri Type |
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Rhizomelia, Metaphyseal cupping, Radial bowing, Flared metaphysis, Small epiphyses, Femoral bowin... |
OMIM:602111 |
Citrullinemia Type Ii |
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Hypoalbuminemia, Mania, Memory impairment, Decreased HDL cholesterol concentration, Confusion, Ab... |
ORPHA:247585 |
Uremic Pruritus |
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Renal hypophosphatemia, Hypermagnesemia, Depression, Increased blood urea nitrogen, Hypercalcemia |
ORPHA:94059 |
Neurodevelopmental Disorder With Poor Growth And Behavioral Abnormalities |
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2-3 toe cutaneous syndactyly, Depression, Short attention span, Aggressive behavior, Attention de... |
OMIM:620242 |
Orofaciodigital Syndrome Type 2 |
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Polysyndactyly of hallux, Finger syndactyly, Short tibia, Complete duplication of hallux phalanx,... |
ORPHA:2751 |
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14 |
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Hypoplastic scapulae, Short tibia, Thumb contracture, Hypoplastic iliac wing, Micrognathia, Small... |
ORPHA:96334 |
Hyperparathyroidism, Neonatal Severe |
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Metaphyseal irregularity, Polydipsia, Hypophosphatemia, Calcinosis, Hypercalcemia |
OMIM:239200 |
Short-Rib Thoracic Dysplasia 20 With Polydactyly |
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Short tibia, Preaxial polydactyly, Micrognathia, Fibular hypoplasia, Short ribs, Postaxial polyda... |
OMIM:617925 |
Hypophosphatemic Rickets And Hyperparathyroidism |
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Hypophosphatemia, Hypophosphatemic rickets, Hypercalcemia, Rickets |
OMIM:612089 |
Cystinosis, Nephropathic |
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Decreased circulating carnitine concentration, Polydipsia, Glycosuria, Rickets, Hypomagnesemia, H... |
OMIM:219800 |
Cntnap2-Related Developmental And Epileptic Encephalopathy |
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Abnormal temper tantrums, Mental deterioration, Preaxial polydactyly, Pes cavus, Low frustration ... |
ORPHA:163681 |
Occipital Horn Syndrome |
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Osteomalacia, Humerus varus, Genu valgum, Pes planus, Abnormal fibula morphology, Short palm, Dys... |
ORPHA:198 |
Intellectual Developmental Disorder, Autosomal Dominant 45 |
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Recurrent hand flapping, Arachnodactyly, Attention deficit hyperactivity disorder, Pes planus, Hy... |
OMIM:617600 |
Juvenile Nephropathic Cystinosis |
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Hypouricemia, Polydipsia, Glycosuria, Elevated circulating creatinine concentration, Hypocalcemic... |
ORPHA:411634 |
Caffey Disease |
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Cortical irregularity, Periosteal thickening of long tubular bones, Tibial bowing, Subperiosteal ... |
OMIM:114000 |
X-Linked Adrenoleukodystrophy |
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Leg muscle stiffness, Disinhibition, Aggressive behavior, Attention deficit hyperactivity disorde... |
ORPHA:43 |
Acromesomelic Dysplasia 3 |
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Aplasia of the proximal phalanx of the 2nd finger, Widened proximal tibial metaphyses, Short 1st ... |
OMIM:609441 |
3-Hydroxy-3-Methylglutaryl-Coa Synthase-2 Deficiency |
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Increased circulating free fatty acid level, Hypophosphatemia, Hypoglycemia |
OMIM:605911 |
Mesomelic Dwarfism, Reinhardt-Pfeiffer Type |
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Ulnar deviation of finger, Synostosis of carpal bones, Micromelia, Abnormal tibia morphology, Fib... |
ORPHA:2634 |
Omodysplasia 1 |
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Rhizomelia, Short tibia, Limited knee flexion/extension, Micrognathia, Short humerus, Fibular hyp... |
OMIM:258315 |
Faciocardiomelic Dysplasia, Lethal |
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Short 5th finger, Radial deviation of the hand, Short thumb, Micrognathia, Fibular hypoplasia, Ta... |
OMIM:227270 |
X-Linked Cerebral Adrenoleukodystrophy |
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Mental deterioration, Memory impairment, Difficulty walking, Inability to walk, Confusion, Short ... |
ORPHA:139396 |
Mccune-Albright Syndrome |
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Aneurysmal bone cyst, Osteomalacia, Monostotic fibrous dysplasia, Abnormal femur morphology, Fibr... |
ORPHA:562 |
Clubfoot, Congenital, With Or Without Deficiency Of Long Bones And/Or Mirror-Image Polydactyly |
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Patellar hypoplasia, Preaxial foot polydactyly, Mirror image foot polydactyly, Talipes equinovaru... |
OMIM:119800 |
Insulin-Like Growth Factor I Deficiency |
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Osteopenia, Micrognathia, Short attention span, Hyperactivity, Clinodactyly of the 5th finger |
OMIM:608747 |
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly |
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Polysyndactyly of hallux, Postaxial polysyndactyly of foot, Preaxial hand polydactyly, Short ribs... |
OMIM:263520 |
Raine Syndrome |
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Micromelia, Long hallux, Micrognathia, Bowing of the long bones, Hypophosphatemia, Brachydactyly,... |
OMIM:259775 |
Microphthalmia With Limb Anomalies |
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2-3 toe cutaneous syndactyly, Finger aplasia, Capitate-hamate fusion, Toe syndactyly, Postaxial f... |
OMIM:206920 |
Pituitary Adenoma 4, Acth-Secreting |
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Abnormal fear-induced behavior, Glucose intolerance, Emotional lability, Hypokalemia, Osteoporosi... |
OMIM:219090 |
Intellectual Developmental Disorder With Autistic Features And Language Delay, With Or Without Seizures |
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Craniosynostosis, Attention deficit hyperactivity disorder, Spastic ataxia, Motor stereotypy |
OMIM:618906 |
Thrombocytopenia-Absent Radius Syndrome |
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Broad thumb, Finger syndactyly, Tibial torsion, Absent radius, Fibular aplasia, Micrognathia, Apl... |
ORPHA:3320 |
Colchicine Poisoning |
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Hypomagnesemia, Hypocalcemia, Hypokalemia, Hyponatremia, Hypophosphatemia, Abnormal blood ion con... |
ORPHA:31824 |
Eiken Syndrome |
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Delayed epiphyseal ossification, Broad femoral neck, Clinodactyly, Long hallux, Broad metatarsal,... |
OMIM:600002 |
Pitt-Hopkins-Like Syndrome 1 |
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Aggressive behavior, Attention deficit hyperactivity disorder, Hyperactivity, Ataxia, Progressive... |
OMIM:610042 |
Hypomagnesemia, Seizures, And Impaired Intellectual Development 2 |
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Hypokalemia, Hyperactivity, Self-biting, Hypomagnesemia |
OMIM:618314 |
Oculocerebrorenal Syndrome Of Lowe |
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Self-injurious behavior, Depression, Abnormal epiphysis morphology, Osteomalacia, Micrognathia, G... |
ORPHA:534 |
Acheiropodia |
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Abnormal epiphysis morphology, Fibular aplasia, Absent hand, Short humerus, Upper limb phocomelia... |
ORPHA:931 |
Ophthalmomandibulomelic Dysplasia |
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Lateral humeral condyle aplasia, Radial bowing, Ulnar deviated club hands, Fibular hypoplasia, Co... |
OMIM:164900 |
Primary Fanconi Renotubular Syndrome |
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Hypouricemia, Decreased circulating carnitine concentration, Glycosuria, Hypoglycemia, Osteomalac... |
ORPHA:3337 |
Multiple Mitochondrial Dysfunctions Syndrome 7 |
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Hypernatremia, Hypoglycemia, Hyperglycemia, Hyperglycinemia, Agitation, Cyanosis, Ankle clonus, I... |
OMIM:620423 |
Neurodegeneration With Brain Iron Accumulation 2B |
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Mental deterioration, Talipes calcaneovalgus, Gait ataxia, Emotional lability, Dysmetria, Short a... |
OMIM:610217 |
Acromelic Frontonasal Dysostosis |
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Short tibia, Patellar hypoplasia, Preaxial hand polydactyly, Preaxial foot polydactyly, Mesomelic... |
OMIM:603671 |
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency |
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Depression, Abnormal circulating biopterin concentration, Abnormal circulating neopterin concentr... |
OMIM:612716 |
Hereditary Fructose Intolerance |
|
Hypermagnesemia, Hypophosphatemia, Reactive hypoglycemia, Hyperuricemia |
ORPHA:469 |
Atelosteogenesis, Type I |
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Radial bowing, Fibular aplasia, Micrognathia, Talipes, Talipes equinovarus, Aplasia/Hypoplasia of... |
OMIM:108720 |
Pearson Syndrome |
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Glycosuria, Hypomagnesemia, Hypocalcemia, Hypokalemia, Hypophosphatemia, Hyperalaninemia, Ataxia,... |
ORPHA:699 |
Autosomal Recessive Malignant Osteopetrosis |
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Abnormal epiphysis morphology, Reduced bone mineral density, Hypocalcemia, Bowing of the long bon... |
ORPHA:667 |
Acro-Renal-Mandibular Syndrome |
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Hypoplastic scapulae, Finger syndactyly, Rudimentary fibula, Micrognathia, Rudimentary to absent ... |
ORPHA:958 |
Brachydactyly-Ectrodactyly With Fibular Aplasia Or Hypoplasia |
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Fibular aplasia, Brachydactyly, Short phalanx of finger, Aplasia/Hypoplasia of the fibula, Split ... |
OMIM:113310 |
Hyperparathyroidism-Jaw Tumor Syndrome |
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Polydipsia, Hypercalcemia, Hypophosphatemia, Osteoporosis, Dysphagia |
ORPHA:99880 |
Thyrotoxic Periodic Paralysis |
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Episodic hypokalemia, Postprandial hyperglycemia, Hypomagnesemia, Transient hypophosphatemia, Hyp... |
ORPHA:79102 |
Parathyroid Carcinoma |
|
Polydipsia, Hypercalcemia, Hypophosphatemia, Osteoporosis, Dysphagia |
ORPHA:143 |
Acrofacial Dysostosis, RodrÃguez Type |
|
Finger aplasia, Abnormal pelvic girdle bone morphology, Aplasia/Hypoplasia of the radius, Microre... |
ORPHA:1788 |
Fibular Dimelia-Diplopodia Syndrome |
|
Absent tibia |
ORPHA:1757 |
Fibrochondrogenesis 1 |
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Hypoplastic ischia, Hypoplastic scapulae, Small hand, Rhizomelia, Broad long bones, Fibular hypop... |
OMIM:228520 |
Tibial Hemimelia |
|
Absent tibia |
OMIM:275220 |
Omodysplasia 2 |
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Broad femoral neck, Short 1st metacarpal, Rhizomelic arm shortening, Micrognathia, Short humerus,... |
OMIM:164745 |
Argininemia |
|
Hyperammonemia, Hyperargininemia, Irritability, Hyperactivity, Anorexia, Spastic gait |
OMIM:207800 |
Osteofibrous Dysplasia, Susceptibility To |
|
Pseudoarthrosis, Fibular hypoplasia |
OMIM:607278 |
Campomelic Dysplasia |
|
Small abnormally formed scapulae, 11 pairs of ribs, Micrognathia, Femoral bowing, Tibial bowing, ... |
ORPHA:140 |
Familial Hypocalciuric Hypercalcemia |
|
Renal hypophosphatemia, Hypermagnesemia, Osteomalacia, Hypocalcemic seizures, Hypercalcemia |
ORPHA:405 |
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly |
|
Metaphyseal irregularity, Irregular epiphyses, Hypoplastic iliac wing, Hypoplastic pelvis, Early ... |
OMIM:208500 |
Choreoacanthocytosis |
|
Mental deterioration, Equinovarus deformity, Emotional lability, Hair-pulling, Loss of ambulation... |
ORPHA:2388 |
Acrorenal-Mandibular Syndrome |
|
Hypoplastic scapulae, Toe syndactyly, Rudimentary fibula, Micrognathia, Rudimentary to absent tib... |
OMIM:200980 |
Neurodegeneration With Brain Iron Accumulation 1 |
|
Phonic tics, Mental deterioration, Depression, Abnormal foot morphology, Akinesia, Obsessive-comp... |
OMIM:234200 |
Acromelic Frontonasal Dysplasia |
|
Aplasia/Hypoplasia of the tibia, Talipes equinovarus, Preaxial foot polydactyly, Patellar hypoplasia |
ORPHA:1827 |
Fructose Intolerance, Hereditary |
|
Glycosuria, Hypoglycemia, Hyperbilirubinemia, Hyperuricemia, Hypophosphatemia, Bicarbonaturia |
OMIM:229600 |
Campomelic Dysplasia |
|
Delayed epiphyseal ossification, Hypoplastic scapulae, Hypoplastic cervical vertebrae, Shortening... |
OMIM:114290 |
Alport Syndrome 3A, Autosomal Dominant |
|
Hypophosphatemia, Azotemia |
OMIM:104200 |
Phocomelia, Schinzel Type |
|
Finger aplasia, Radial bowing, Micromelia, Aplasia/Hypoplasia involving the pelvis, Abnormal tibi... |
ORPHA:2879 |
Ulna And Fibula, Absence Of, With Severe Limb Deficiency |
|
Radial bowing, Aplasia/Hypoplasia of the pubic bone, Fibular aplasia, Humeroradial synostosis, Ap... |
OMIM:276820 |
Hydrolethalus Syndrome 1 |
|
Preaxial hand polydactyly, Upper limb undergrowth, Micrognathia, Talipes equinovarus, Duplication... |
OMIM:236680 |
Cranioectodermal Dysplasia 1 |
|
Short distal phalanx of finger, Rhizomelia, Clinodactyly, Short toe, Radial deviation of finger, ... |
OMIM:218330 |
Kinsship Syndrome |
|
Osteopenia, Bruxism, Micrognathia, Fibular hypoplasia, Polydactyly, Coxa valga, Pes planus, Dislo... |
OMIM:619297 |
Schneckenbecken Dysplasia |
|
Hypoplastic ilia, Hypoplastic scapulae, Micromelia, Fibular hypoplasia, Short ribs, Hypoplastic v... |
ORPHA:3144 |
Otopalatodigital Syndrome, Type Ii |
|
Broad thumb, Toe syndactyly, Radial bowing, Rudimentary fibula, Overlapping fingers, Micrognathia... |
OMIM:304120 |
Charge Syndrome |
|
Bifid femur, Short thumb, Hand monodactyly, Micrognathia, Hypocalcemia, Self-mutilation, Down-slo... |
OMIM:214800 |
Orofaciodigital Syndrome Type 4 |
|
Aplasia/Hypoplasia of the tibia, Finger syndactyly, Micromelia, Preaxial hand polydactyly, Campto... |
ORPHA:2753 |
Osteopathia Striata With Cranial Sclerosis |
|
Craniofacial osteosclerosis, Fibular aplasia, Micrognathia, Sclerosis of skull base, Fibular hypo... |
OMIM:300373 |
Histidinemia |
|
Hyperactivity, Hyperhistidinemia |
ORPHA:2157 |