Rhizomelic Chondrodysplasia Punctata, Type 3 |
|
Epiphyseal stippling, Short humerus, Rhizomelia, Short femur |
OMIM:600121 |
Eiken Syndrome |
|
Short phalanx of finger, Thin bony cortex, Short toe, Metaphyseal irregularity, Abnormal bone oss... |
ORPHA:79106 |
Chondrodysplasia, Lethal, With Long Bone Angulation And Mixed Bone Density |
|
Short tibia, Absent ossification of thoracic vertebral bodies, Hypoplasia of the radius, Lytic de... |
OMIM:601376 |
Fibular Hemimelia |
|
Short tibia, Hip subluxation, Limited knee flexion/extension, Hypoplastic acetabulae, Toe syndact... |
ORPHA:93323 |
Acrocapitofemoral Dysplasia |
|
Short tibia, Flared iliac wing, Short proximal phalanx of finger, Short femur, Enlargement of the... |
OMIM:607778 |
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor |
|
Thin bony cortex, Genu valgum, Metaphyseal irregularity, Generalized bone demineralization, Genu ... |
OMIM:600785 |
Rhizomelic Dysplasia, Ain-Naz Type |
|
Short femoral neck, Wide distal femoral metaphysis, Rhizomelia, Hip dysplasia, Limitation of join... |
OMIM:619598 |
Acromesomelic Dysplasia 2A |
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Short tibia, Short phalanx of finger, Flexion contracture, Aplasia/Hypoplasia involving the metac... |
OMIM:200700 |
Hip Dysplasia, Beukes Type |
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Broad femoral neck, Abnormal bone ossification, Abnormality of the epiphysis of the femoral head,... |
ORPHA:2114 |
Paget Disease Of Bone 2, Early-Onset |
|
Increased susceptibility to fractures, Short femur, Femoral bowing, Osteolysis, Sclerosis of skul... |
OMIM:602080 |
Epiphyseal Dysplasia, Multiple, 5 |
|
Broad femoral neck, Metaphyseal irregularity, Genu valgum, Coxa vara, Short metacarpal, Short fem... |
OMIM:607078 |
Epiphyseal Dysplasia, Multiple, 1 |
|
Short phalanx of finger, Broad femoral neck, Genu valgum, Short femoral neck, Avascular necrosis ... |
OMIM:132400 |
Hypophosphatasia, Adult |
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Increased susceptibility to fractures, Recurrent fractures, Osteomalacia, Abnormal foot morpholog... |
OMIM:146300 |
Tibial Aplasia-Ectrodactyly Syndrome |
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Aplasia/Hypoplasia of the tibia, Omphalocele, Preaxial hand polydactyly, Finger syndactyly, Patel... |
ORPHA:3329 |
Spondyloepimetaphyseal Dysplasia With Hypotrichosis |
|
Genu varum, Short femoral neck, Coxa vara, Decreased hip abduction, Rhizomelia, Flared iliac wing... |
OMIM:183849 |
Angioosteohypotrophic Syndrome |
|
Thin bony cortex, Upper limb undergrowth, Abnormal trabecular bone morphology, Hypoplasia of the ... |
ORPHA:75508 |
Brachyolmia Type 1, Hobaek Type |
|
Short femoral neck, Short long bone, Short iliac bones, Flat acetabular roof, Sclerotic foci of m... |
OMIM:271530 |
Epiphyseal Dysplasia, Multiple, 7 |
|
Genu varum, Advanced ossification of carpal bones, Short femoral neck, Flat acetabular roof, Epip... |
OMIM:617719 |
Osteosclerosis With Ichthyosis And Fractures |
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Recurrent fractures, Increased bone mineral density, Cortical thickening of long bone diaphyses, ... |
OMIM:166740 |
Vitamin D Hydroxylation-Deficient Rickets, Type 1B |
|
Thin bony cortex, Metaphyseal irregularity, Recurrent fractures, Bulging epiphyses, Tibial bowing... |
OMIM:600081 |
Ischiocoxopodopatellar Syndrome With Or Without Pulmonary Arterial Hypertension |
|
Patellar hypoplasia, Patellar aplasia, Coxa vara, Patellar dislocation, Micrognathia, Flat capita... |
OMIM:147891 |
Spondyloepiphyseal Dysplasia Congenita |
|
Genu valgum, Upper limb undergrowth, Short femoral neck, Limited elbow movement, Short long bone,... |
ORPHA:94068 |
Epiphyseal Stippling-Osteoclastic Hyperplasia Syndrome |
|
Genu varum, Abnormal bone ossification, Epiphyseal stippling, Coarse metaphyseal trabecularizatio... |
ORPHA:1952 |
Pseudoachondroplasia |
|
Short phalanx of finger, Irregular carpal bones, Limb undergrowth, Irregular acetabular roof, Lim... |
ORPHA:750 |
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Flexion contracture, Fractured radius, Short ribs, Micrognathia, Short femur, Adducted thumb, Fla... |
OMIM:616897 |
Spondyloepiphyseal Dysplasia, Kondo-Fu Type |
|
Short femoral neck, Delayed ossification of carpal bones, Inguinal hernia, Brachydactyly, Reduced... |
OMIM:618392 |
Hypophosphatemic Rickets, X-Linked Recessive |
|
Thin bony cortex, Metaphyseal irregularity, Recurrent fractures, Bulging epiphyses, Osteomalacia,... |
OMIM:300554 |
Hypophosphatemic Rickets, Autosomal Recessive, 1 |
|
Rickets, Increased bone mineral density, Hypophosphatemic rickets, Craniosynostosis |
OMIM:241520 |
Hypocalcemic Vitamin D-Resistant Rickets |
|
Genu varum, Genu valgum, Recurrent fractures, Osteomalacia, Coarse metaphyseal trabecularization,... |
ORPHA:93160 |
Metaphyseal Chondrodysplasia, Schmid Type |
|
Short tubular bones of the hand, Limb undergrowth, Metaphyseal cupping of proximal phalanges, Met... |
ORPHA:174 |
Osteogenesis Imperfecta, Type X |
|
Thin bony cortex, Genu valgum, Dentinogenesis imperfecta, Generalized joint laxity, Rhizomelia, M... |
OMIM:613848 |
Hypophosphatemic Bone Disease |
|
Rickets, Bowing of the legs, Osteomalacia |
OMIM:146350 |
Hypophosphatemic Rickets With Hypercalciuria, Hereditary |
|
Thin bony cortex, Metaphyseal irregularity, Recurrent fractures, Bulging epiphyses, Tibial bowing... |
OMIM:241530 |
Osteogenesis Imperfecta, Type Xiv |
|
Increased susceptibility to fractures, Recurrent fractures, Osteopenia, Femoral bowing |
OMIM:615066 |
Hypophosphatemic Rickets, X-Linked Dominant |
|
Shortening of the talar neck, Trapezoidal distal femoral condyles, Metaphyseal irregularity, Genu... |
OMIM:307800 |
Hyperparathyroidism, Transient Neonatal |
|
Recurrent fractures, Short long bone, Short ribs, Splenic cyst, Short femur, Femoral bowing, Ingu... |
OMIM:618188 |
Atelosteogenesis Type I |
|
Absent or minimally ossified vertebral bodies, Rhizomelia, Short long bone, Micrognathia, Short f... |
ORPHA:1190 |
Slc39A13-Related Spondylodysplastic Ehlers-Danlos Syndrome |
|
Broad femoral neck, Flexion contracture, Tapered finger, Short femoral neck, Flat capital femoral... |
ORPHA:157965 |
Gnathodiaphyseal Dysplasia |
|
Increased susceptibility to fractures, Osteomyelitis, Diaphyseal cortical sclerosis, Osteopenia, ... |
OMIM:166260 |
Vitamin D Hydroxylation-Deficient Rickets, Type 1A |
|
Thin bony cortex, Metaphyseal irregularity, Enamel hypoplasia, Recurrent fractures, Bulging epiph... |
OMIM:264700 |
Vitamin D-Dependent Rickets, Type 2A |
|
Thin bony cortex, Metaphyseal irregularity, Enamel hypoplasia, Recurrent fractures, Bulging epiph... |
OMIM:277440 |
Hypophosphatemic Rickets, Autosomal Dominant |
|
Rickets, Abnormality of the lower limb, Hypophosphatemic rickets, Osteomalacia |
OMIM:193100 |
Femoral-Facial Syndrome |
|
Aplasia/Hypoplasia of the tibia, Coxa vara, Hip dysplasia, Preaxial foot polydactyly, Micrognathi... |
ORPHA:1988 |
Tyrosinemia Type 1 |
|
Splenomegaly, Rickets of the lower limbs |
ORPHA:882 |
Dermatosparaxis Ehlers-Danlos Syndrome |
|
Coxa valga, Avascular necrosis of the capital femoral epiphysis, Coxa vara, Osteomalacia, Abnorma... |
ORPHA:1901 |
Dent Disease 1 |
|
Thin bony cortex, Metaphyseal irregularity, Recurrent fractures, Bulging epiphyses, Osteomalacia,... |
OMIM:300009 |
Metaphyseal Dysplasia, Braun-Tinschert Type |
|
Thin bony cortex, Broad tibial metaphyses, Increased bone mineral density, Broad femoral head, Fi... |
ORPHA:85188 |
Atelosteogenesis Type Ii |
|
Short phalanx of finger, Micrognathia, Elbow flexion contracture, Camptodactyly, Short femur, Met... |
ORPHA:56304 |
Florid Cemento-Osseous Dysplasia |
|
Abnormal trabecular bone morphology, Mandibular osteomyelitis, Abnormal bone structure, Abnormal ... |
ORPHA:83451 |
Weismann-Netter Syndrome |
|
Anemia, Abnormality of the humerus, Tibial bowing, Abnormal cortical bone morphology, Femoral bow... |
ORPHA:3344 |
Ivic Syndrome |
|
Triphalangeal thumb, Absent thumb, Upper limb undergrowth, Limited elbow movement, Short 1st meta... |
OMIM:147750 |
Thanatophoric Dysplasia Type 1 |
|
Hypoplastic ilia, Wide anterior fontanel, Micromelia, Short femur, Femoral bowing, Abnormal sacro... |
ORPHA:1860 |
Hypocalcemic Vitamin D-Dependent Rickets |
|
Thin bony cortex, Genu varum, Increased susceptibility to fractures, Enamel hypoplasia, Osteomala... |
ORPHA:289157 |
Hypoplastic Femurs And Pelvis |
|
Hypoplastic pelvis, Short femur |
OMIM:619545 |
Bruck Syndrome 2 |
|
Knee flexion contracture, Increased susceptibility to fractures, Flexion contracture, Elbow flexi... |
OMIM:609220 |
Lipodystrophy, Generalized, With Mental Retardation, Deafness, Short Stature, And Slender Bones |
|
Genu valgum, Short femoral neck, Slender long bones with narrow diaphyses, Metaphyseal striations... |
OMIM:608154 |
Pelviscapular Dysplasia |
|
Mesomelic leg shortening, Hypoplastic ilia, Humeroradial synostosis, Elbow flexion contracture, S... |
ORPHA:93333 |
Axial Osteomalacia |
|
Increased bone mineral density, Osteomalacia |
OMIM:109130 |
Disorder Of Bile Acid Synthesis |
|
Rickets |
ORPHA:79168 |
Achondroplasia |
|
Genu varum, Short femoral neck, Generalized joint laxity, Short ribs, Rhizomelia, Radial bowing, ... |
OMIM:100800 |
Hypercholanemia, Familial 1 |
|
Rickets |
OMIM:607748 |
Bile Acid Conjugation Defect 1 |
|
Rickets |
OMIM:619232 |
Hereditary Hypophosphatemic Rickets With Hypercalciuria |
|
Osteomalacia, Bowing of the legs, Hypophosphatemic rickets, Pathologic fracture, Reduced bone min... |
ORPHA:157215 |
Atelosteogenesis, Type I |
|
Vertebral hypoplasia, Micrognathia, Distal tapering femur, Short femur, Limb undergrowth, Knee di... |
OMIM:108720 |
Autosomal Dominant Hypophosphatemic Rickets |
|
Rickets, Iron deficiency anemia, Bowing of the legs, Osteomalacia |
ORPHA:89937 |
Calvarial Doughnut Lesions With Bone Fragility |
|
Osteoporosis, Recurrent fractures, Osteopenia, Femoral bowing |
OMIM:126550 |
X-Linked Hypophosphatemia |
|
Abnormal lower-limb metaphysis morphology, Flared iliac wing, Sacroiliac joint synovitis, Reduced... |
ORPHA:89936 |
Kyphomelic Dysplasia |
|
Short metacarpal, Radial bowing, Micrognathia, Flat acetabular roof, Ulnar bowing, Limitation of ... |
OMIM:211350 |
Multiple Epiphyseal Dysplasia Type 4 |
|
Skewfoot, Broad foot, Flexion contracture, Micrognathia, Elbow flexion contracture, Stiff ankle, ... |
ORPHA:93307 |
Fanconi Renotubular Syndrome 3 |
|
Rickets, Bowing of the legs |
OMIM:615605 |
Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development |
|
Short tibia, Absent thumb, Short femur, Hypoplasia of the ulna, Aplasia/Hypoplasia of the radius,... |
OMIM:612447 |
Autosomal Recessive Hypophosphatemic Rickets |
|
Genu varum, Coxa vara, Rickets of the lower limbs, Abnormal trabecular bone morphology, Increased... |
ORPHA:289176 |
Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome |
|
Dumbbell-shaped long bone, Rhizomelia, Micrognathia, Micromelia, Short femur, Femoral bowing, Bra... |
ORPHA:440354 |
Osteogenesis Imperfecta, Type Xviii |
|
Thin bony cortex, Recurrent fractures, Micrognathia, Joint laxity, Femoral bowing, Joint hypermob... |
OMIM:617952 |
Spondylometaphyseal Dysplasia, Kozlowski Type |
|
Short tubular bones of the hand, Flared iliac wing, Absent epiphyses of the phalanges of the hand... |
ORPHA:93314 |
Renal Tubular Acidosis, Distal, 1 |
|
Pathologic fracture, Osteomalacia |
OMIM:179800 |
Infantile Systemic Hyalinosis |
|
Camptodactyly of finger, Increased susceptibility to fractures, Recurrent fractures, Osteomalacia... |
ORPHA:2176 |
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia |
|
Hemolytic anemia, Reticulocytosis, Hepatosplenomegaly, Rickets, Decreased mean corpuscular volume |
OMIM:611590 |
Renal Tubular Acidosis Iii |
|
Rickets, Osteomalacia |
OMIM:267200 |
Fanconi Renotubular Syndrome 2 |
|
Rickets, Recurrent fractures, Osteopenia, Osteomalacia |
OMIM:613388 |
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss |
|
Rickets |
OMIM:602722 |
Melorheostosis, Isolated |
|
Increased bone mineral density, Hyperostosis |
OMIM:155950 |
Camptodactyly-Arthropathy-Coxa-Vara-Pericarditis Syndrome |
|
Camptodactyly of finger, Short femoral neck, Coxa vara, Flattened femoral head, Camptodactyly of ... |
ORPHA:2848 |
Brachial Amelia, Cleft Lip, And Holoprosencephaly |
|
Omphalocele, Amelia, Foot oligodactyly, Short femur |
OMIM:601357 |
Osteogenesis Imperfecta, Type Viii |
|
Dentinogenesis imperfecta, Recurrent fractures, Short metacarpal, Femoral retroversion, Wide ante... |
OMIM:610915 |
Cholestasis, Progressive Familial Intrahepatic, 1 |
|
Rickets, Splenomegaly, Osteopenia |
OMIM:211600 |
Fibrous Dysplasia Of Bone |
|
Thin bony cortex, Coxa vara, Osteomalacia, Abnormality of the humerus, Abnormal morphology of the... |
ORPHA:249 |
Dent Disease |
|
Thin bony cortex, Metaphyseal irregularity, Recurrent fractures, Bulging epiphyses, Osteomalacia,... |
ORPHA:1652 |
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly |
|
Toe syndactyly, Aplasia/hypoplasia of the femur, Postaxial hand polydactyly, Talipes equinovarus,... |
OMIM:228930 |
Congenital Disorder Of Glycosylation, Type Ig |
|
Short tibia, Rhizomelia, Short ribs, Hypoplasia of the radius, Short femur, Sandal gap, Short hum... |
OMIM:607143 |
Osteogenesis Imperfecta, Type Iv |
|
Increased susceptibility to fractures, Dentinogenesis imperfecta, Bowing of limbs due to multiple... |
OMIM:166220 |
Spondyloepimetaphyseal Dysplasia, Shohat Type |
|
Genu varum, Metaphyseal irregularity, Fibular overgrowth, Coxa vara, Short femoral neck, Vertebra... |
OMIM:602557 |
Rothmund-Thomson Syndrome |
|
Broad ulna, Increased susceptibility to fractures, Anemia, Neutropenia, Abnormal trabecular bone ... |
ORPHA:2909 |
Rothmund-Thomson Syndrome Type 2 |
|
Short phalanx of finger, Abnormal trabecular bone morphology, Metaphyseal striations, Aplastic an... |
ORPHA:221016 |
Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction |
|
Rickets, Recurrent fractures |
OMIM:268315 |
Thalidomide Embryopathy |
|
Triphalangeal thumb, Aplasia/Hypoplasia of the thumb, Radial club hand, Preaxial hand polydactyly... |
ORPHA:3312 |
Osteopetrosis, Autosomal Recessive 7 |
|
Anemia, Abnormal trabecular bone morphology, Osteopetrosis, Femur fracture, Splenomegaly |
OMIM:612301 |
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia |
|
Rickets, Osteoporosis |
OMIM:560000 |
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type |
|
Rickets |
OMIM:219900 |
Occipital Horn Syndrome |
|
Coxa valga, Large iliac wing, Scarring, Hip dislocation, Osteolysis, Short palm, Aplasia/hypoplas... |
ORPHA:198 |
Epiphyseal Dysplasia, Baumann Type |
|
Metaphyseal irregularity, Genu valgum, Aplasia of metacarpal bones, Narrow pelvis bone, Clinodact... |
OMIM:610797 |
Rothmund-Thomson Syndrome Type 1 |
|
Short phalanx of finger, Genu varum, Abnormality of the radial head, Anemia, Metaphyseal sclerosi... |
ORPHA:221008 |
Microcephalic Osteodysplastic Primordial Dwarfism, Type I |
|
Flexion contracture, Micrognathia, Elbow flexion contracture, Hip dislocation, Short femur, Limb ... |
OMIM:210710 |
Catel-Manzke Syndrome |
|
Short toe, Genu valgum, Short metacarpal, Micrognathia, Camptodactyly, Clinodactyly of the 5th fi... |
OMIM:616145 |
Intellectual Developmental Disorder, Autosomal Dominant 53 |
|
Genu valgum, Joint hypermobility, Short femur |
OMIM:617798 |
Osteogenesis Imperfecta, Type I |
|
Increased susceptibility to fractures, Dentinogenesis imperfecta, Recurrent fractures, Joint hype... |
OMIM:166200 |
Familial Osteodysplasia, Anderson Type |
|
Increased susceptibility to fractures, Aplastic clavicle, Recurrent fractures, Aplasia/hypoplasia... |
ORPHA:2769 |
Orofaciodigital Syndrome Vi |
|
11 pairs of ribs, Preaxial hand polydactyly, Toe syndactyly, Preaxial foot polydactyly, Central Y... |
OMIM:277170 |
Fanconi Renotubular Syndrome 1 |
|
Rickets, Osteomalacia |
OMIM:134600 |
Hypophosphatemic Rickets And Hyperparathyroidism |
|
Rickets, Hypophosphatemic rickets |
OMIM:612089 |
Bile Acid Synthesis Defect, Congenital, 1 |
|
Rickets, Splenomegaly |
OMIM:607765 |
Fanconi-Bickel Syndrome |
|
Reduced subcutaneous adipose tissue, Osteomalacia |
OMIM:227810 |
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia |
|
Short phalanx of finger, Aplasia/hypoplasia of the femur, Toe syndactyly, Flared iliac wing, Micr... |
OMIM:609945 |
Metaphyseal Dysostosis-Intellectual Disability-Conductive Deafness Syndrome |
|
Metaphyseal dysplasia, Genu varum, Broad foot, Short foot, Broad tibial metaphyses, Short femoral... |
ORPHA:2502 |
Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis |
|
Anemia, Elliptocytosis, Micrognathia, Clinodactyly of the 5th finger, Pes planus, Joint hypermobi... |
OMIM:300990 |
Fanconi-Bickel Syndrome |
|
Rickets, Bowing of the long bones, Osteopenia |
ORPHA:2088 |
Hypocalciuric Hypercalcemia, Familial, Type Iii |
|
Multiple lipomas, Chondrocalcinosis, Osteomalacia |
OMIM:600740 |
Mccune-Albright Syndrome |
|
Monostotic fibrous dysplasia, Recurrent fractures, Osteomalacia, Aneurysmal bone cyst, Pancytopen... |
ORPHA:562 |
Cystinosis |
|
Rickets |
ORPHA:213 |
Congenital Bile Acid Synthesis Defect Type 2 |
|
Rickets, Extramedullary hematopoiesis |
ORPHA:79303 |
Hypophosphatemic Rickets |
|
Bowing of the long bones, Osteomalacia, Abnormal lower limb bone morphology, Enthesitis, Odontody... |
ORPHA:437 |
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young |
|
Rickets |
OMIM:616026 |
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria |
|
Polydactyly, Flexion contracture, Short humerus, Short femur |
ORPHA:17 |
Ulna And Fibula, Absence Of, With Severe Limb Deficiency |
|
Humeroradial synostosis, Aplasia/hypoplasia of the femur, Elbow flexion contracture, Hip dislocat... |
OMIM:276820 |
Wiedemann-Rautenstrauch Syndrome |
|
Camptodactyly of finger, 2-3 toe syndactyly, Hypoplastic ilia, Hip dysplasia, Reduced subcutaneou... |
ORPHA:3455 |
Pancreatic Triacylglycerol Lipase Deficiency |
|
Rickets, Iron deficiency anemia, Osteoporosis, Osteomalacia |
ORPHA:309031 |
Neu-Laxova Syndrome |
|
Broad foot, Flexion contracture, Osteomalacia, Micrognathia, Arthrogryposis multiplex congenita, ... |
ORPHA:2671 |
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii |
|
Aplastic clavicle, Abnormal finger morphology, Large iliac wing, Aplasia/hypoplasia of the femur,... |
ORPHA:2636 |
Pelvis-Shoulder Dysplasia |
|
Camptodactyly of finger, Aplasia/Hypoplasia of the fibula, Hypoplastic pubic bone, Mesomelic/rhiz... |
ORPHA:2839 |
Celiac Disease, Susceptibility To, 1 |
|
Enamel hypoplasia, Rickets, Thrombocytosis, Macrocytic anemia, Iron deficiency anemia, Osteoporosis |
OMIM:212750 |
8Q24.3 Microdeletion Syndrome |
|
Short 5th finger, Short middle phalanx of the 5th finger, Hip dysplasia, Clinodactyly of the 5th ... |
ORPHA:508488 |
Wiedemann-Rautenstrauch Syndrome |
|
Genu varum, Flexion contracture, Hypoplasia of the thymus, Hypoplastic ilia, Slender long bone, M... |
OMIM:264090 |
Distal Renal Tubular Acidosis |
|
Increased susceptibility to fractures, Hemolytic anemia, Osteomalacia, Rickets, Reduced bone mine... |
ORPHA:18 |
Lowe Oculocerebrorenal Syndrome |
|
Camptodactyly of finger, Finger swelling, Genu valgum, Enamel hypoplasia, Joint contracture of th... |
OMIM:309000 |
Familial Hypocalciuric Hypercalcemia |
|
Chondrocalcinosis, Lipoma, Osteomalacia |
ORPHA:405 |
Wilson Disease |
|
Pedal edema, Splenomegaly, Anemia, Chondrocalcinosis, Hemolytic anemia, Osteomalacia, Joint hyper... |
OMIM:277900 |
Rajab Interstitial Lung Disease With Brain Calcifications 1 |
|
Thin bony cortex, Anemia, Joint laxity, Pancytopenia, Rickets, Inguinal hernia, Osteopenia, Reduc... |
OMIM:613658 |
Primary Fanconi Renotubular Syndrome |
|
Increased susceptibility to fractures, Hypophosphatemic rickets, Osteomalacia |
ORPHA:3337 |
Infantile Nephropathic Cystinosis |
|
Rickets |
ORPHA:411629 |
Femoral-Facial Syndrome |
|
Hypoplastic acetabulae, Preaxial hand polydactyly, Limited elbow movement, Humeroradial synostosi... |
OMIM:134780 |
Oculocerebrorenal Syndrome Of Lowe |
|
Genu valgum, Anemia, Recurrent fractures, Patellar dislocation, Osteomalacia, Arthritis, Microgna... |
ORPHA:534 |
Cystinosis, Nephropathic |
|
Genu valgum, Splenomegaly, Rickets, Hypophosphatemic rickets, Metaphyseal widening |
OMIM:219800 |
Immunodeficiency 82 With Systemic Inflammation |
|
Anemia, Reduced natural killer cell count, Osteomyelitis, T lymphocytopenia, B lymphocytopenia, O... |
OMIM:619381 |
Generalized Arterial Calcification Of Infancy |
|
Abnormality of the knee, Stippled calcification of the shoulder, Osteomalacia, Abnormal hip joint... |
ORPHA:51608 |