Gene Summary

phosphate regulating endopeptidase homolog, X-linked

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

IMPC Phenotype Summary

Not Significant
Not tested


The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

Phenotype System Allele Zyg Sex Life Stage P Value
decreased circulating calcium level Phexnot yet available HOM Early adult 8.81×10-05
decreased body weight Phexnot yet available HOM Early adult 4.39×10-08
abnormal ulna morphology Phexnot yet available HOM Early adult 5.74×10-11
abnormal vertebrae morphology Phexnot yet available HOM Early adult 4.04×10-08
decreased blood urea nitrogen level Phexnot yet available HOM Early adult 3.94×10-09
increased circulating alkaline phosphatase level Phexnot yet available HOM Early adult 1.09×10-19
abnormal body size Phexnot yet available HOM Early adult 5.95×10-06
abnormal joint morphology Phexnot yet available HOM Early adult 5.74×10-11
abnormal vertebral arch morphology Phexnot yet available HOM Early adult 4.04×10-08
increased circulating potassium level Phexnot yet available HOM Early adult 1.78×10-06
abnormal tail morphology Phexnot yet available HOM Early adult 5.95×10-06
abnormal radius morphology Phexnot yet available HOM Early adult 5.74×10-11
abnormal femur morphology Phexnot yet available HOM Early adult 5.74×10-11
decreased circulating phosphate level Phexnot yet available HOM Early adult 2.41×10-09
abnormal tail movements Phexnot yet available HOM   Early adult 2.36×10-06
decreased circulating amylase level Phexnot yet available HOM Early adult 1.08×10-08
decreased body length Phexnot yet available HOM Early adult 2.35×10-07
decreased circulating triglyceride level Phexnot yet available HOM Early adult 1.00×10-07
abnormal tibia morphology Phexnot yet available HOM Early adult 5.74×10-11
Phexnot yet available HOM Early adult 5.95×10-06

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lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

Phenotype associated images not available

Human diseases caused by Phex mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

The table below shows human diseases associated to Phex by orthology or direct annotation.

The table below shows human diseases predicted to be associated to Phex by phenotypic similarity.

Disease Similarity of
Matching phenotypes Source
Abnormal urine carbohydrate level, Abnormality of circulating enzyme level, Abnormal circulating ... ORPHA:2843
Eiken Syndrome
Short phalanx of finger, Metaphyseal irregularity, Thin bony cortex, Delayed epiphyseal ossificat... ORPHA:79106
Hypophosphatemic Bone Disease
Hypophosphatemia, Rickets, Bowing of the legs, Osteomalacia OMIM:146350
Acrocapitofemoral Dysplasia
Scoliosis, Narrow chest, Flared iliac wing, Ovoid vertebral bodies, Short distal phalanx of finge... OMIM:607778
Familial Isolated Hyperparathyroidism
Hypophosphatemia, Hyperphosphaturia, Parathyroid adenoma, Hypercalciuria, Hypercalcemia, Primary ... ORPHA:99879
Chondrodysplasia, Lethal, With Long Bone Angulation And Mixed Bone Density
Hypoplasia of the radius, Short femur, Lumbar platyspondyly, Lytic defects of humeral diaphysis, ... OMIM:601376
Hypophosphatemia, Renal, With Intracerebral Calcifications
Renal phosphate wasting, Renal hypophosphatemia OMIM:241519
Hypocalcemic Vitamin D-Resistant Rickets
Hypophosphatemia, Hypocalcemia, Genu valgum, Osteolysis, Scoliosis, Abnormal form of the vertebra... ORPHA:93160
Hypophosphatemic Rickets, X-Linked Recessive
Bulging epiphyses, Metaphyseal irregularity, Hypercalciuria, Bowing of the legs, Chronic kidney d... OMIM:300554
Hypocalciuric Hypercalcemia, Familial, Type I
Hypermagnesemia, Hypocalciuria, Hypercalciuria, Nephrolithiasis, Hypercalcemia, Pancreatitis, Par... OMIM:145980
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 1
Hypophosphatemia, Renal phosphate wasting, Hyperphosphaturia, Hypercalciuria, Nephrolithiasis OMIM:612286
Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Hypophosphatemia, Bulging epiphyses, Enlargement of the ankles, Metaphyseal irregularity, Sparse ... OMIM:600081
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 2
Hypophosphatemia, Renal phosphate wasting, Nephrolithiasis, Hyperphosphaturia OMIM:612287
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis
Hypophosphatemia, Nephrocalcinosis, Low-molecular-weight proteinuria, Hyposthenuria, Focal segmen... OMIM:308990
Dent Disease 1
Bulging epiphyses, Metaphyseal irregularity, Hypercalciuria, Bowing of the legs, Chronic kidney d... OMIM:300009
Hypercalcemia, Infantile, 2
Hypophosphatemia, Renal phosphate wasting, Polyuria, Hypercalciuria, Hypercalcemia, Medullary nep... OMIM:616963
Acromesomelic Dysplasia, Hunter-Thompson Type
Radial bowing, Hypoplasia of the radius, Elbow dislocation, Abnormally shaped carpal bones, Hypop... OMIM:201250
Vitamin D-Dependent Rickets, Type 3
Hypophosphatemia, Hypocalcemia, Metaphyseal cupping, Bowing of the legs, Flared metaphysis, Genu ... OMIM:619073
Endosteal Hyperostosis, Autosomal Dominant
Metacarpal diaphyseal endosteal sclerosis, Sclerotic vertebral body, Metatarsal diaphyseal endost... OMIM:144750
Hypophosphatemic Rickets, Autosomal Dominant
Hypophosphatemia, Renal phosphate wasting, Rickets, Hypophosphatemic rickets, Osteomalacia, Abnor... OMIM:193100
Hypophosphatemic Rickets, X-Linked Dominant
Hypophosphatemia, Metaphyseal irregularity, Flattening of the talar dome, Hypophosphatemic ricket... OMIM:307800
Hypophosphatemic Rickets, Autosomal Recessive, 1
Hypophosphatemia, Craniosynostosis, Rickets, Hypophosphatemic rickets, Increased bone mineral den... OMIM:241520
Chondrodysplasia, Grebe Type
Hypoplasia of the radius, Short femur, Postaxial hand polydactyly, Short phalanx of finger, Hypop... OMIM:200700
Rhizomelic Chondrodysplasia Punctata, Type 3
Epiphyseal stippling, Rhizomelia, Short femur, Short humerus OMIM:600121
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor
Bulging epiphyses, Genu valgum, Generalized bone demineralization, Metaphyseal irregularity, Spar... OMIM:600785
Osebold-Remondini Syndrome
Dysplastic distal radial epiphyses, Hypoplasia of the radius, Decreased finger mobility, Tarsal s... OMIM:112910
Fibular Hemimelia
Hip subluxation, Craniosynostosis, Joint laxity, Structural foot deformity, Bowing of the legs, J... ORPHA:93323
Multiple Epiphyseal Dysplasia With Robin Phenotype
Scoliosis, Genu valgum, Dislocated radial head, Short femur, Talipes equinovarus, Rhizomelia, Irr... OMIM:601560
Spondyloperipheral Dysplasia-Short Ulna Syndrome
Hip dysplasia, Type E brachydactyly, Limited elbow extension, Delayed pubic bone ossification, Ab... ORPHA:1856
Hyperparathyroidism, Neonatal Self-Limited Primary, With Hypercalciuria
Renal tubular acidosis, Hypercalciuria, Hypercalcemia, Nephrocalcinosis, Hyperparathyroidism OMIM:239199
Osteochondrosis Of The Metatarsal Bone
Abnormality of the fifth metatarsal bone, Chondritis, Abnormality of the fourth metatarsal bone, ... ORPHA:564003
Leri-Weill Dyschondrosteosis
Scoliosis, Limited wrist movement, Dorsal subluxation of ulna, Abnormality of the metacarpal bone... OMIM:127300
Ghosal Hematodiaphyseal Dysplasia
Abnormality of tibia morphology, Abnormal form of the vertebral bodies, Craniofacial hyperostosis... ORPHA:1802
Fanconi Renotubular Syndrome 1
Hypophosphatemia, Lacticaciduria, Rickets, Aminoaciduria, Glycosuria, Osteomalacia, Hypokalemia, ... OMIM:134600
Langer Mesomelic Dysplasia
Radial bowing, Hypoplasia of the radius, Rudimentary fibula, Madelung deformity, Hypoplasia of th... OMIM:249700
Hypophosphatemic Rickets With Hypercalciuria, Hereditary
Hypophosphatemia, Bulging epiphyses, Enlargement of the ankles, Metaphyseal irregularity, Sparse ... OMIM:241530
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Hypophosphatemia, Bulging epiphyses, Fibular bowing, Subperiosteal bone resorption, Enlargement o... OMIM:264700
Chondrodysplasia Punctata, Tibia-Metacarpal Type
Short 4th metacarpal, Short 3rd metacarpal, Epiphyseal stippling, Coronal cleft vertebrae, Limb u... OMIM:118651
Hypocalcemic Vitamin D-Dependent Rickets
Hypophosphatemia, Hypocalcemia, Enlargement of the ankles, Subperiosteal bone resorption, Sparse ... ORPHA:289157
Brachyolmia Type 1, Hobaek Type
Scoliosis, Squared-off platyspondyly, Short iliac bones, Short neck, Flattened proximal radial ep... OMIM:271530
Brachydactyly Type A1
Short hallux, Scoliosis, Distal symphalangism of hands, Short middle phalanx of finger, Cone-shap... ORPHA:93388
Spondylometaphyseal Dysplasia, Corner Fracture Type
Scoliosis, Metaphyseal irregularity, Pectus carinatum, Ovoid vertebral bodies, Coxa vara, Hyperco... OMIM:184255
Upington Disease
Premature epimetaphyseal fusion, Arthralgia of the hip, Flat capital femoral epiphysis, Broad fem... ORPHA:3408
Abnormality of urine homeostasis OMIM:260800
Hypocalciuric Hypercalcemia, Familial, Type Ii
Hypermagnesemia, Hypocalciuria, Hypercalcemia, Primary hyperparathyroidism, Pancreatitis, Paratho... OMIM:145981
Nephropathy-Deafness-Hyperparathyroidism Syndrome
Bone cyst, Glomerulopathy, Hypercalcemia, Renal insufficiency, Hyperparathyroidism, Proteinuria ORPHA:2668
Hypophosphatemic Rickets And Hyperparathyroidism
Hypophosphatemia, Parathyroid hyperplasia, Renal phosphate wasting, Hypophosphatemic rickets, Hyp... OMIM:612089
Metaphyseal Chondrodysplasia, Spahr Type
Hip dysplasia, Scoliosis, Hyperlordosis, Metaphyseal chondrodysplasia, Abnormality of epiphysis m... ORPHA:2501
Lethal Faciocardiomelic Dysplasia
Radial club hand, Hypoplasia of the radius, Microretrognathia, Hypoplasia of the ulna, Bilateral ... ORPHA:1972
Osteopathia Striata-Pigmentary Dermopathy-White Forelock Syndrome
Coarse metaphyseal trabecularization, Osteopathia striata, Abnormal diaphysis morphology, Abnorma... ORPHA:2779
Auditory Neuropathy, Autosomal Dominant, 1
Absence of acoustic reflex, Abnormal auditory evoked potentials, Sensorineural hearing impairment... OMIM:609129
Dent Disease 2
Hypophosphatemia, Low-molecular-weight proteinuria, Proximal tubulopathy, Aminoaciduria, Hypercal... OMIM:300555
Hereditary Hypophosphatemic Rickets With Hypercalciuria
Hypophosphatemia, Hypophosphatemic rickets, Increased circulating beta-C-terminal telopeptide lev... ORPHA:157215
Vitamin D-Dependent Rickets, Type 2A
Hypophosphatemia, Bulging epiphyses, Fibular bowing, Subperiosteal bone resorption, Enlargement o... OMIM:277440
Hyperparathyroidism 4
Parathyroid carcinoma, Nephrolithiasis, Hypercalcemia, Primary hyperparathyroidism OMIM:617343
Rhizomelic Dysplasia, Patterson-Lowry Type
Platyspondyly, Deformed humeral heads, Short metatarsal, Rhizomelia, Short humerus, Coxa vara, Sh... OMIM:601438
Ophthalmomandibulomelic Dysplasia
Radial bowing, Decreased mobility 3rd-5th fingers, Lateral humeral condyle aplasia, Elbow disloca... OMIM:164900
Mesomelic Dysplasia, Savarirayan Type
Broad tibial metaphyses, Elbow dislocation, Bowing of the long bones, Narrow iliac wing, Mesomeli... ORPHA:85170
Rhizomelic Chondrodysplasia Punctata, Type 5
Talipes equinovarus, Metaphyseal irregularity, Swan neck-like deformities of the fingers, Metaphy... OMIM:616716
Skeletal Defects, Genital Hypoplasia, And Mental Retardation
Short femur, Hypoplasia of the ulna, Aplasia/Hypoplasia of the radius, Fibular hypoplasia, Absent... OMIM:612447
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3
Scoliosis, Dislocated radial head, Multiple joint dislocation, Platyspondyly, Metaphyseal irregul... OMIM:618395
Metaphyseal Acroscyphodysplasia
Irregular phalanges, Scoliosis, Craniosynostosis, Short phalanx of finger, Cone-shaped epiphyses ... OMIM:250215
Craniodiaphyseal Dysplasia
Cranial hyperostosis, Diaphyseal dysplasia, Facial hyperostosis, Diaphyseal sclerosis OMIM:218300
Dent Disease
Bulging epiphyses, Hematuria, Metaphyseal irregularity, Renal hypophosphatemia, Hypercalciuria, B... ORPHA:1652
Spondylometaphyseal Dysplasia, Type A4
Platyspondyly, Metaphyseal sclerosis, Metaphyseal irregularity, Osteoporotic metatarsal, Pectus c... OMIM:609052
Femur-Fibula-Ulna Complex
Humeroradial synostosis, Finger syndactyly, Split hand, Abnormality of the elbow, Short humerus, ... ORPHA:2019
Syndactyly Type 4
6 metacarpals, Camptodactyly of finger, Hand polydactyly, Toe syndactyly, 1-5 finger syndactyly, ... ORPHA:93405
Spondyloperipheral Dysplasia
Broad thumb, Short metatarsal, Short distal phalanx of the 2nd finger, Short distal phalanx of fi... OMIM:271700
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland
Hypocalcemia, Hypercalciuria, Congenital hypoparathyroidism, Hypomagnesemia, Parathyroid agenesis... ORPHA:2239
Renal Tubular Acidosis Iii
Bicarbonate-wasting renal tubular acidosis, Rickets, Osteomalacia, Hypokalemia, Nephrocalcinosis,... OMIM:267200
Osteofibrous Dysplasia, Susceptibility To
Fibular hypoplasia, Pectus excavatum, Pseudoarthrosis OMIM:607278
Secondary Hypoparathyroidism Due To Impaired Parathormon Secretion
Abnormal circulating calcium concentration, Abnormality of the parathyroid gland, Secondary hyper... ORPHA:140286
Fanconi Renotubular Syndrome 2
Hypophosphatemia, Generalized aminoaciduria, Rickets, Proximal tubulopathy, Glycosuria, Hypercalc... OMIM:613388
Autosomal Dominant Hypophosphatemic Rickets
Hypophosphatemia, Hypocalcemia, Hyperphosphaturia, Rickets, Osteomalacia, Bowing of the legs ORPHA:89937
Deafness, Autosomal Recessive 9
Absent brainstem auditory responses, Sensorineural hearing impairment, Absence of acoustic reflex OMIM:601071
Mesomelic Dwarfism, Reinhardt-Pfeiffer Type
Abnormality of tibia morphology, Synostosis of carpal bones, Elbow dislocation, Hypoplasia of the... ORPHA:2634
Spondylometaphyseal Dysplasia, East African Type
Metaphyseal widening, Ovoid vertebral bodies, Short long bone, Coxa vara, Genu varum, Rounded epi... OMIM:611702
Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia
Mesomelic arm shortening, Short 2nd metacarpal, Lateral clavicle hook, Radioulnar synostosis, Elb... OMIM:171480
Hyperparathyroidism 2 With Jaw Tumors
Parathyroid carcinoma, Hurthle cell thyroid adenoma, Papillary renal cell carcinoma, Recurrent pa... OMIM:145001
Metaphyseal Dysplasia, Spahr Type
Genu valgum, Metaphyseal sclerosis, Metaphyseal chondrodysplasia, Metaphyseal dysplasia, Short lo... OMIM:250400
Léri-Weill Dyschondrosteosis
Limited wrist movement, Abnormality of tibia morphology, Dorsal subluxation of ulna, Elbow disloc... ORPHA:240
Fibrous Dysplasia Of Bone
Scoliosis, Abnormality of tibia morphology, Pathologic fracture, Hypercalcemia, Abnormal lumbar s... ORPHA:249
Rhizomelic Chondrodysplasia Punctata, Type 2
Scoliosis, Stippled calcification proximal humeral epiphyses, Rhizomelia, Flexion contracture, Ir... OMIM:222765
Mesomelic Dysplasia, Savarirayan Type
Dislocated radial head, Delayed closure of the anterior fontanelle, Mesomelia, Talipes equinovalg... OMIM:605274
Hypocalciuric Hypercalcemia, Familial, Type Iii
Hypophosphatemia, Hypermagnesemia, Hypocalciuria, Osteomalacia, Hypercalcemia, Primary hyperparat... OMIM:600740
Spondyloepimetaphyseal Dysplasia, Irapa Type
Short metatarsal, Pes planus, Abnormality of the carpal bones, Abnormality of the metaphysis, Abn... ORPHA:93351
Upington Disease
Arthralgia of the hip, Flattened femoral head, Broad femoral neck OMIM:191520
Faciocardiomelic Dysplasia, Lethal
Radial deviation of the hand, Hypoplasia of the radius, Talipes, Hypoplasia of the ulna, Single t... OMIM:227270
Congenital Radioulnar Synostosis
Dislocated radial head, Abnormal morphology of the radius, Radioulnar synostosis, Congenital hip ... ORPHA:3269
Acromesomelic Dysplasia, Grebe Type
Postaxial hand polydactyly, Tarsal synostosis, Synostosis of carpal bones, Bowing of the long bon... ORPHA:2098
Weismann-Netter Syndrome
Scoliosis, Squared iliac bones, Abnormality of tibia morphology, Abnormal form of the vertebral b... ORPHA:3344
Osteodysplasty, Precocious, Of Danks, Mayne, And Kozlowski
Abnormality of long bone morphology, Abnormality of pelvic girdle bone morphology, Short finger, ... OMIM:259270
Hypomagnesemia 2, Renal
Hypocalciuria, Hypokalemia, Renal magnesium wasting, Hypomagnesemia, Renal insufficiency OMIM:154020
Hhhh Syndrome
Hemiatrophy, Hemiparesis OMIM:306960
Parathyroid Carcinoma
Parathyroid carcinoma, Hypercalcemia, Hyperparathyroidism OMIM:608266
Dyggve-Melchior-Clausen Syndrome, X-Linked
Hypoplastic sacrum, Distal ulnar hypoplasia, Genu valgum, Prominent sternum, Scoliosis, Short nec... OMIM:304950
Hip Dysplasia, Beukes Type
Hip dysplasia, Scoliosis, Abnormal bone ossification, Abnormal ossification involving the femoral... ORPHA:2114
Bartter Syndrome, Type 3
Hypocalciuria, Hypotension, Renal potassium wasting, Hyperactive renin-angiotensin system, Polyur... OMIM:607364
Endosteal Hyperostosis, Worth Type
Sclerotic vertebral body, Abnormal form of the vertebral bodies, Craniofacial hyperostosis, Gener... ORPHA:2790
Metaphyseal Chondrodysplasia, Schmid Type
Metaphyseal irregularity, Bowing of the legs, Waddling gait, Femoral bowing, Hip dysplasia, Ulnar... ORPHA:174
Mesomelic Dwarfism Of Hypoplastic Tibia And Radius Type
Short tibia, Hypoplasia of the radius, Pseudoarthrosis OMIM:156230
Epiphyseal Dysplasia, Multiple, 7
Platyspondyly, Flat acetabular roof, Monkey wrench femoral neck, Genu varum, Short femoral neck, ... OMIM:617719
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome
Finger syndactyly, Upper limb asymmetry, Aplasia/Hypoplasia of the radius, Abnormal scapula morph... ORPHA:2141
Osteomalacia, Sclerosing, With Cerebral Calcification
Osteomalacia, Generalized osteosclerosis, Increased bone mineral density OMIM:259660
X-Linked Hypophosphatemia
Craniosynostosis, Flared iliac wing, Generalized osteosclerosis, Rachitic rosary, Bowing of the l... ORPHA:89936
Autosomal Recessive Hypophosphatemic Rickets
Craniosynostosis, Abnormal trabecular bone morphology, Polyarticular arthritis, Hypophosphatemic ... ORPHA:289176
Ulna And Fibula, Hypoplasia Of
Fibular hypoplasia, Hypoplasia of the ulna OMIM:191400
Autosomal Recessive Kenny-Caffey Syndrome
Hypocalcemia, Hypocalcemic tetany, Cortical thickening of long bone diaphyses, Thin ribs, Stenosi... ORPHA:93324
Metaphyseal Anadysplasia 2
Metaphyseal widening, Short femoral neck, Bowing of the legs, Metaphyseal irregularity OMIM:613073
Multiple Synostoses Syndrome 1
Fusion of midphalangeal joints, Tarsal synostosis, Lower limb undergrowth, Waddling gait, Short l... OMIM:186500
Spondyloepimetaphyseal Dysplasia, Handigodu Type
Hip subluxation, Flattened femoral head, Waddling gait, Short femoral neck, Hump-shaped mound of ... ORPHA:99642
Hypercholanemia, Familial 1
Rickets, Steatorrhea, Increased serum bile acid concentration, Failure to thrive OMIM:607748
Rhizomelic Dysplasia, Patterson-Lowry Type
Hyperlordosis, Genu valgum, Deformed humeral heads, Abnormal form of the vertebral bodies, Rhizom... ORPHA:2831
Tibial Aplasia-Ectrodactyly Syndrome
Preaxial hand polydactyly, Postaxial hand polydactyly, Short femur, Abnormality of femur morpholo... ORPHA:3329
Mental Retardation Syndrome, Mietens-Weber Type
Dislocated radial head, Pes planus, Absent proximal radial epiphyses, Forearm undergrowth, Elbow ... OMIM:249600
Boomerang Dysplasia
Abnormality of tibia morphology, Abnormality of femur morphology, Abnormal bone ossification, Poo... ORPHA:1263
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Hyperphosphaturia, Hypouricemia, Aminoaciduria, Hypoglycemia, Glycosuria, Diabetes mellitus, Neph... OMIM:616026
Absent hand, Upper limb phocomelia, Abnormality of epiphysis morphology, Aplasia of the ulna, Sho... ORPHA:931
Scoliosis, Irregular carpal bones, Short phalanx of finger, Metaphyseal irregularity, Joint laxit... ORPHA:750
Familial Parathyroid Adenoma
Hypophosphatemia, Parathyroid carcinoma, Parathyroid hyperplasia, Renal insufficiency, Hyperphosp... ORPHA:99877
Ulnar Hypoplasia
Radial bowing, Distal ulnar hypoplasia, Hypoplasia of the radius, Mesomelic arm shortening, Radia... OMIM:191440
Albers-Schönberg Osteopetrosis
Hypocalcemia, Genu valgum, Macrocephaly, Carious teeth, Abnormality of epiphysis morphology, Recu... ORPHA:53
Epiphyseal Dysplasia, Multiple, With Severe Proximal Femoral Dysplasia
Flat distal femoral epiphysis, Genu valgum, Proximal femoral metaphyseal irregularity, Platyspond... OMIM:609324
Distal Osteosclerosis
Hyperostosis, Craniofacial osteosclerosis, Diaphyseal sclerosis OMIM:126250
Fanconi Renotubular Syndrome 3
Hyperphosphaturia, Rickets, Aminoaciduria, Glycosuria, Bowing of the legs, Proteinuria OMIM:615605
Spinal Dysplasia, Anhalt Type
Narrow anterio-posterior vertebral body diameter, Osteoarthritis of the small joints of the hand,... OMIM:601344
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly
Aplasia/Hypoplasia of the 5th finger, Congenital hip dislocation, Femoral bowing, Aplasia/Hypopla... OMIM:228930
Fibrochondrogenesis 1
Camptodactyly, Hypoplastic ischia, Narrow greater sciatic notch, Short neck, Thin clavicles, Post... OMIM:228520
Spondyloepiphyseal Dysplasia Congenita
Scoliosis, Flat acetabular roof, Waddling gait, Small epiphyses, Short femoral neck, Short neck, ... ORPHA:94068
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss
Rickets, Distal renal tubular acidosis, Hypercalciuria, Hypokalemia, Failure to thrive, Nephrocal... OMIM:602722
Metatropic Dysplasia
Scoliosis, Camptodactyly of finger, Abnormality of the ribs, Hypoplastic cervical vertebrae, Abno... ORPHA:2635
Gurrieri Syndrome
Hypoplastic acetabulae, Decreased anterioposterior diameter of lumbar vertebral bodies, Hypoplast... OMIM:601187
Femoral-Facial Syndrome
Hip dysplasia, Scoliosis, Short femur, Radioulnar synostosis, Sprengel anomaly, Preaxial foot pol... ORPHA:1988
Spondyloepimetaphyseal Dysplasia, Isidor-Toutain Type
Scoliosis, Platyspondyly, Enlarged metaphyses, Lower-limb metaphyseal irregularity, Short long bo... OMIM:618728
Du Pan Syndrome
Fibular aplasia, Short metatarsal, Short phalanx of finger, Rhizomelia, Talipes equinovalgus, Fib... OMIM:228900
Holt-Oram Syndrome
Small thenar eminence, Limited elbow extension, Hypoplasia of the radius, Abnormal vertebral morp... OMIM:142900
Helix Syndrome
Hypohidrosis, Hypermagnesemia, Hypocalciuria, Polyuria, Xerostomia, Hypokalemia, Nephrolithiasis,... OMIM:617671
Spondyloepimetaphyseal Dysplasia, Shohat Type
Vertebral hypoplasia, Platyspondyly, Delayed epiphyseal ossification, Metaphyseal irregularity, C... OMIM:602557
Ulnar Hypoplasia With Mental Retardation
Talipes equinovarus, Bilateral ulnar hypoplasia, Limitation of knee mobility, Limited elbow movement OMIM:276821
Hyperostosis Corticalis Generalisata
Cranial hyperostosis, Abnormal cortical bone morphology, Generalized osteosclerosis, Diaphyseal t... ORPHA:3416
Axial Osteomalacia
Elevated circulating creatine kinase concentration, Osteomalacia, Renal cyst, Increased bone mine... OMIM:109130
Multiple Osteochondromas
Radial bowing, Genu valgum, Scoliosis, Abnormality of tibia morphology, Osteolysis, Elbow disloca... ORPHA:321
Omodysplasia 2
Dislocated radial head, Hypoplastic distal humeri, Limited elbow flexion/extension, Short 1st met... OMIM:164745
Acrofacial Dysostosis, Rodríguez Type
Radioulnar synostosis, Finger syndactyly, Microretrognathia, Abnormal form of the vertebral bodie... ORPHA:1788
Symbrachydactyly Of Hands And Feet
Scoliosis, Aplasia/Hypoplasia of the radius, Aplasia/Hypoplasia of the thumb, Abnormality of the ... ORPHA:1570
Rhizomelic Dysplasia, Scoliosis, And Retinitis Pigmentosa
Scoliosis, Short neck, Broad ribs, Biconcave vertebral bodies, Rhizomelia, Short humerus, Short r... OMIM:610319
Spondyloepimetaphyseal Dysplasia, Missouri Type
Radial bowing, Limited elbow extension, Pear-shaped vertebrae, Platyspondyly, Flared iliac wing, ... OMIM:602111
Chondrocalcinosis Due To Apatite Crystal Deposition
Osteoarthritis of the small joints of the hand, Costal cartilage calcification, Chondrocalcinosis OMIM:118610
Hereditary Sensory And Autonomic Neuropathy Type 2
Foot acroosteolysis, Abnormality of the knee, Wormian bones, Osteolysis, Hyperlordosis, Abnormali... ORPHA:970
Hypophosphatemia, Squared iliac bones, Anterior rib cupping, Scoliosis, Short neck, Narrow chest,... OMIM:258480
Pseudohypoparathyroidism, Type Ib
Hypocalcemia, Pseudohypoparathyroidism, Low urinary cyclic AMP response to PTH administration, El... OMIM:603233
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis
Scoliosis, Osteolysis, Abnormal vertebral morphology, Abnormality of epiphysis morphology, Cranio... ORPHA:324964
Ulnar Hypoplasia With Lobster-Claw Deformity Of Feet
Short finger, Syndactyly, Split foot, Hypoplasia of the ulna OMIM:314360
Hyperparathyroidism 1
Hypercalcemia, Primary hyperparathyroidism OMIM:145000
Pseudohypoparathyroidism, Type Ii
Pseudohypoparathyroidism, Hypocalcemia, Hyperphosphatemia, Elevated circulating parathyroid hormo... OMIM:203330
Ulnar/Fibular Ray Defect And Brachydactyly
Toe syndactyly, Postaxial oligodactyly, Fibular hypoplasia, Lower limb asymmetry, Bilateral talip... OMIM:608571
Langer Mesomelic Dysplasia
Abnormality of epiphysis morphology, Mesomelic/rhizomelic limb shortening, Bowing of the long bon... ORPHA:2632
Absent hand, Absent forearm, Carpal bone aplasia, Lower limb peromelia, Aplasia of the ulna, Shor... OMIM:200500
Dermatosparaxis Ehlers-Danlos Syndrome
Hip dysplasia, Osteoporosis, Scoliosis, Rickets, Joint hyperflexibility, Abnormal joint morpholog... ORPHA:1901
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome
Scoliosis, Radioulnar synostosis, Finger syndactyly, Pectus carinatum, Abnormality of the elbow, ... ORPHA:3268
Adrenocortical Hypofunction, Chronic Primary Congenital
Hypernatriuria, Adrenal insufficiency OMIM:103230
Blount Disease, Adolescent
Bowing of the legs, Osteochondritis Dissecans, Genu varum OMIM:259200
Melorheostosis With Osteopoikilosis
Complete duplication of the distal phalanges of the hand, Abnormal cortical bone morphology, Oste... ORPHA:1879
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type
Limited elbow extension, Platyspondyly, Thoracic hypoplasia, Irregular epiphyses, Ovoid vertebral... OMIM:608728
Renal Tubular Acidosis, Distal, 1
Hypocalcemia, Renal tubular acidosis, Osteomalacia, Pathologic fracture, Nephrocalcinosis OMIM:179800
Hypophosphatemic Rickets, Autosomal Recessive, 2
Hypophosphatemic rickets, Hyperphosphaturia, Medullary nephrocalcinosis OMIM:613312
Lipodystrophy-Intellectual Disability-Deafness Syndrome
Slender build, Slender long bones with narrow diaphyses, Dense metaphyseal bands, Small for gesta... ORPHA:50811
Cortical Defects, Wormian Bones, And Dentinogenesis Imperfecta
Limited elbow extension, Delayed closure of the anterior fontanelle, Wormian bones, Hyperostosis,... OMIM:604922
Adenine Phosphoribosyltransferase Deficiency
Dysuria, Acute kidney injury, Urinary hesitancy, Uric acid nephrolithiasis, Recurrent urinary tra... ORPHA:976
Spondyloepimetaphyseal Dysplasia With Hypotrichosis
Proximal femoral metaphyseal irregularity, Decreased hip abduction, Flared iliac wing, Rhizomelia... OMIM:183849
Kyphomelic Dysplasia
Radial bowing, Anterior rib cupping, Lateral clavicle hook, Short femur, Platyspondyly, Micrognat... OMIM:211350
2-3 finger syndactyly, Finger syndactyly, Craniofacial hyperostosis, Abnormal cortical bone morph... ORPHA:3152
Ulna Metaphyseal Dysplasia Syndrome
Abnormality of the vertebral column, Hypercalcemia, Coxa valga OMIM:191420
Ulna Hypoplasia-Intellectual Disability Syndrome
Hypoplasia of the radius, Broad thumb, Elbow dislocation, Talipes, Broad hallux phalanx, Hypoplas... ORPHA:2249
Linear Verrucous Nevus Syndrome
Hypophosphatemia, Scoliosis, Toe syndactyly, Talipes, Genu recurvatum, Reduced bone mineral densi... ORPHA:2611
Atelosteogenesis, Type I
Short metatarsal, Narrow chest, Elbow dislocation, Thoracic platyspondyly, Multinucleated giant c... OMIM:108720
Metaphyseal Anadysplasia
Abnormality of epiphysis morphology, Bowing of the long bones, Aplasia/Hypoplasia of the radius, ... ORPHA:1040
Hyperparathyroidism, Neonatal Severe
Hypophosphatemia, Hyperphosphaturia, Polyuria, Aminoaciduria, Calcinosis, Hypercalciuria, Hyperca... OMIM:239200
Patterson Pseudoleprechaunism Syndrome
Irregular acetabular roof, Genu valgum, Small cervical vertebral bodies, Joint swelling, Cervical... OMIM:169170
Hypophosphatasia, Adult
Rickets, Recurrent fractures, Osteomalacia, Pathologic fracture, Increased susceptibility to frac... OMIM:146300
Fanconi-Bickel Syndrome
Hypophosphatemia, Hyperphosphaturia, Hypouricemia, Generalized aminoaciduria, Glycosuria, Osteoma... OMIM:227810
Oncogenic Osteomalacia
Hypophosphatemia, Hypocalcemia, Abnormality of the tarsal bones, Abnormal vertebral morphology, A... ORPHA:352540
Metaphyseal Chondrodysplasia, Jansen Type
Hypophosphatemia, Clubbing of fingers, Metaphyseal chondrodysplasia, Micrognathia, Bowing of the ... OMIM:156400
Epiphyseal Dysplasia, Multiple, 1
Genu valgum, Short phalanx of finger, Generalized joint laxity, Hip osteoarthritis, Irregular epi... OMIM:132400
Hypophosphatemic Rickets
Hyperostosis, Hypercalciuria, Hypercalcemia, Joint stiffness, Elevated circulating parathyroid ho... ORPHA:437
Avascular Necrosis Of Femoral Head, Primary, 1
Avascular necrosis of the capital femoral epiphysis, Generalized osteoporosis OMIM:608805
Intellectual Disability-Spasticity-Ectrodactyly Syndrome
Finger syndactyly, Bilateral single transverse palmar creases, Abnormal hip bone morphology, Clin... ORPHA:1891
Nephropathy, Deafness, And Hyperparathyroidism
Parathyroid hyperplasia, Renal insufficiency, Hyperparathyroidism, Nephropathy OMIM:256120
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Scoliosis, Talipes equinovarus, Lateral clavicle hook, Absent tibia, Thoracic hypoplasia, Preaxia... OMIM:613091
Tibial Torsion, Bilateral Medial
Scoliosis, Abnormality of tibia morphology, Bowing of the legs, Tibial torsion OMIM:188800
Limited elbow extension, Aplasia/hypoplasia of the extremities, Lumbar hyperlordosis, Short long ... OMIM:146000
Myopathy, Tubular Aggregate, 2
Hypocalcemia, Areflexia of lower limbs, Flexion contracture, Spinal rigidity, Falls, Elevated cir... OMIM:615883
Ulnar Hypoplasia-Split Foot Syndrome
Split hand, Split foot, Hypoplasia of the ulna, Aplasia/Hypoplasia of the radius ORPHA:1122
Mueller-Weiss Syndrome
Fragmented, irregular epiphyses, Limitation of movement at ankles, Difficulty walking, Pes planus... ORPHA:566943
Metaphyseal Dysplasia Without Hypotrichosis
Abnormality of the vertebral column, Metaphyseal irregularity, Joint laxity, Metaphyseal cupping ... OMIM:250460
Otoonychoperoneal Syndrome
Macrotia, Prominent superior crus of antihelix, Posteriorly rotated ears, Low-set ears, Aplasia/H... OMIM:259780
Thoracomelic Dysplasia
Hyperlordosis, Genu valgum, Narrow chest, Elbow dislocation, Gait disturbance, Bell-shaped thorax... ORPHA:1803
Gnathodiaphyseal Dysplasia
Scoliosis, Bowing of the long bones, Recurrent fractures, Osteopenia, Mandibular osteomyelitis, T... ORPHA:53697
Fanconi-Bickel Syndrome
Hypophosphatemia, Hyperphosphaturia, Generalized aminoaciduria, Rickets, Bowing of the long bones... ORPHA:2088
Acromesomelic Dysplasia, Demirhan Type
Aplasia of the proximal phalanges of the hand, Tarsal synostosis, Short phalanx of finger, Short ... OMIM:609441
Müllerian Duct Anomalies-Limb Anomalies Syndrome
Postaxial hand polydactyly, Split hand, Abnormality of the elbow, Short humerus, Abnormality of t... ORPHA:2491
Hypoparathyroidism, Familial Isolated, 2
Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures OMIM:618883
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness
Scoliosis, Pes planus, Flat acetabular roof, Narrow greater sciatic notch, Cone-shaped epiphyses ... OMIM:609616
Spondyloepimetaphyseal Dysplasia, Irapa Type
Hypoplastic sacrum, Limited elbow extension, Genu valgum, Upper limb undergrowth, Short metatarsa... OMIM:271650
3M Syndrome
Scoliosis, Congenital hip dislocation, Enlarged thorax, Abnormality of the elbow, Horizontal ribs... ORPHA:2616
Phosphoserine Phosphatase Deficiency
Intrauterine growth retardation, Hypertonia, Postnatal growth retardation OMIM:614023
Multiple Endocrine Neoplasia, Type Iia
Palpitations, Elevated urinary dopamine, Increased circulating cortisol level, Pheochromocytoma, ... OMIM:171400
Acro-Renal-Mandibular Syndrome
Abnormal clavicle morphology, Scoliosis, Rudimentary fibula, Hypoplasia of the radius, Short neck... ORPHA:958
Fibular Aplasia-Complex Brachydactyly Syndrome
Abnormality of tibia morphology, Abnormal thumb morphology, Tarsal synostosis, Abnormality of epi... ORPHA:2639
Acrofacial Dysostosis Syndrome Of Rodriguez
Triphalangeal thumb, Oligodactyly, Absent forearm, Overlapping toe, Fibular hypoplasia, Clinodact... OMIM:201170
Epiphyseal Dysplasia, Multiple, 6
Flat distal femoral epiphysis, Abnormality of the knee, Irregular epiphyses, Irregular vertebral ... OMIM:614135
Eiken Syndrome
Broad ribs, Delayed ossification of carpal bones, Broad metatarsal, Short middle phalanx of finge... OMIM:600002
Prader-Willi Habitus, Osteopenia, And Camptodactyly
Osteoporosis, Enlarged epiphyses, Camptodactyly, Joint contracture of the hand, Osteopenia, Obesity OMIM:264010
Czech Dysplasia
Scoliosis, Platyspondyly, Short toe, Short metatarsal, Thoracic kyphosis, Narrow iliac wing, Narr... OMIM:609162
Otopalatodigital Syndrome, Type Ii
Wormian bones, Nonossified fifth metatarsal, Delayed closure of the anterior fontanelle, Broad th... OMIM:304120
Fibular Aplasia-Ectrodactyly Syndrome
Split hand, Aplasia/Hypoplasia of the fibula, Abnormality of the ulna ORPHA:1118
Epiphyseal Dysplasia, Multiple, 3
Limited elbow extension, Abnormal hip joint morphology, Delayed epiphyseal ossification, Limited ... OMIM:600969
Thrombocytopenia-Absent Radius Syndrome
Scoliosis, Fibular aplasia, Broad thumb, Finger syndactyly, Adducted thumb, Fused cervical verteb... ORPHA:3320
Fanconi Renotubular Syndrome 5
Hypophosphatemia, Genu valgum, Tubulointerstitial fibrosis, Hypophosphatemic rickets, Aminoacidur... OMIM:618913
Short Stature, Auditory Canal Atresia, Mandibular Hypoplasia, And Skeletal Abnormalities
Dislocated radial head, Scapulohumeral synostosis, Rhizomelia, Hypoplastic scapulae, Flexion cont... OMIM:602471
Kyphomelic Dysplasia
Anterior rib cupping, Lateral clavicle hook, Short thorax, Narrow chest, Abnormal form of the ver... ORPHA:1801
Epiphyseal Dysplasia, Multiple, 5
Genu valgum, Hypoplasia of the capital femoral epiphysis, Metaphyseal irregularity, Delayed ossif... OMIM:607078
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia
Rickets, Distal renal tubular acidosis, Isothenuria, Hypokalemia, Failure to thrive, Nephrocalcin... OMIM:611590
Microphthalmia With Limb Anomalies
Postaxial hand polydactyly, Toe syndactyly, Fused fourth and fifth metacarpals, Growth delay, Foo... OMIM:206920
Metatropic Dysplasia
Scoliosis, Arthrogryposis multiplex congenita, Narrow chest, Dumbbell-shaped metaphyses, Absent p... OMIM:156530
Osteopetrosis, Autosomal Recessive 1
Hypocalcemia, Craniosynostosis, Femur fracture, Sandwich appearance of vertebral bodies, Osteopet... OMIM:259700
Pelviscapular Dysplasia
Humeroradial synostosis, Short femur, Short neck, Congenital hip dislocation, Hypoplastic scapula... ORPHA:93333
Multiple Epiphyseal Dysplasia, Beighton Type
Lumbar platyspondyly, Abnormal hip joint morphology, Flattened femoral head, Thoracic platyspondy... ORPHA:166011
Progressive Familial Intrahepatic Cholestasis
Hypocalcemia, Reduced bone mineral density, Failure to thrive ORPHA:172
Schneckenbecken Dysplasia
Lateral clavicle hook, Short neck, Advanced tarsal ossification, Narrow chest, Abnormal form of t... ORPHA:3144
Ulnar Hemimelia
Scoliosis, Radial club hand, Short forearm, Limited shoulder movement, Duplication of phalanx of ... ORPHA:93320
Multiple Epiphyseal Dysplasia Type 1
Hip dysplasia, Genu valgum, Finger joint hypermobility, Gait disturbance, Short long bone, Coxa v... ORPHA:93308
Seizures, Sensorineural Deafness, Ataxia, Mental Retardation, And Electrolyte Imbalance
Hypocalciuria, Renal potassium wasting, Polyuria, Enuresis, Hyperaldosteronism, Increased circula... OMIM:612780
Buschke-Ollendorff Syndrome
Craniosynostosis, Palmoplantar keratoderma, Abnormality of epiphysis morphology, Flexion contract... ORPHA:1306
Campomelic Dysplasia
Scoliosis, Short neck, Poorly ossified cervical vertebrae, Narrow chest, Hypoplastic inferior ili... ORPHA:140
Hypoparathyroidism, Familial Isolated, 1
Hypocalcemia, Decreased circulating parathyroid hormone level, Hypoparathyroidism, Hyperphosphatemia OMIM:146200
Ossification Anomalies-Psychomotor Developmental Delay Syndrome
Clubbing of fingers, Generalized bone demineralization, Abnormal bone ossification, Narrow chest,... ORPHA:73230
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome
Foot oligodactyly, Tibial bowing, Syndactyly, Hand oligodactyly, Short tibia, Fibular aplasia, Ab... OMIM:246570
Epiphyseal Dysplasia, Multiple, 4
Hip dysplasia, Scoliosis, Limited elbow flexion, Epiphyseal dysplasia, Double-layered patella, Sh... OMIM:226900
Familial Hypocalciuric Hypercalcemia
Hypermagnesemia, Hypomagnesiuria, Hypocalciuria, Renal hypophosphatemia, Osteomalacia, Hypercalce... ORPHA:405
Idiopathic Hypercalciuria
Renal calcium wasting, Osteoporosis, Calcium oxalate nephrolithiasis, Hypercalciuria, Osteopenia ORPHA:2197
Van Bogaert-Hozay Syndrome
Distal ulnar hypoplasia, Micrognathia, Osteolytic defects of the phalanges of the hand OMIM:277150
Ischiocoxopodopatellar Syndrome With Or Without Pulmonary Arterial Hypertension
Short femur, Tarsal synostosis, Talocalcaneal synostosis, Pes planus, Sandal gap, Wide capital fe... OMIM:147891
Camurati-Engelmann Disease, Type 2
Hyperostosis, Thoracolumbar scoliosis, Waddling gait, Hip contracture, Knee flexion contracture, ... OMIM:606631
Scoliosis, Hyperlordosis, Abnormality of femur morphology, Abnormal form of the vertebral bodies,... ORPHA:429
Kenny-Caffey Syndrome, Type 1
Hypocalcemia, Delayed closure of the anterior fontanelle, Slender long bone, Thin ribs, Small han... OMIM:244460
Arms, Malformation Of
Hypoplasia of the radius, Radioulnar synostosis, Hypoplasia of the ulna OMIM:107900
Endove Syndrome, Limb-Only Type
Cutaneous syndactyly of toes, Aplasia of the distal phalanges of the toes, Short middle phalanx o... OMIM:619217
Trochlea Of The Humerus, Aplasia Of
Short humerus OMIM:191000
Brachymesomelia-Renal Syndrome
Mesomelic arm shortening, Hypoplasia of the radius, Micrognathia, Fibular hypoplasia, Ulnar bowin... OMIM:113470
Campomelic Dysplasia
Talipes equinovarus, Hypoplastic cervical vertebrae, Poorly ossified cervical vertebrae, Thoracic... OMIM:114290
Metaphyseal Chondrodysplasia, Schmid Type
Irregular acetabular roof, Platyspondyly, Metaphyseal chondrodysplasia, Short middle phalanx of f... OMIM:156500
Thymic Neuroendocrine Tumor
Increased circulating cortisol level, Pituitary prolactin cell adenoma, Neuroendocrine neoplasm, ... ORPHA:97289
Ectopic ossification in muscle tissue, Increased bone mineral density, Hyperostosis, Joint stiffn... ORPHA:2485
Congenital Absence Of Upper Arm And Forearm With Hand Present
Abnormality of the vertebral column, Upper limb phocomelia, Polydactyly, Abnormal thorax morpholo... ORPHA:294975
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Lateral clavicle hook, Hand polydactyly, Short phalanx of finger, Metaphyseal irregularity, Hypop... OMIM:208500
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Craniosynostosis, Broad thumb, Short metatarsal, Short phalanx of finger, Flared iliac wing, Spli... OMIM:609945
Progressive Pseudorheumatoid Arthropathy Of Childhood
Abnormal ilium morphology, Scoliosis, Irregularity of vertebral bodies, Abnormal hip joint morpho... ORPHA:1159
Atelosteogenesis Type Iii
Elbow dislocation, Club-shaped distal femur, Absent radius, Micrognathia, Coronal cleft vertebrae... ORPHA:56305
Rheumatoid Factor-Positive Polyarticular Juvenile Idiopathic Arthritis
Abnormality of limb bone morphology, Joint swelling, Abnormality of epiphysis morphology, Synovit... ORPHA:85435
Upper Limb Mesomelic Dysplasia
Radial bowing, Hypoplasia of the ulna, Ulnar deviation of finger ORPHA:2497
Congenital Disorder Of Glycosylation, Type Ig
Hypocalcemia, Hypoplasia of the radius, Short femur, Rhizomelia, Short humerus, Sandal gap, Short... OMIM:607143
Seckel Syndrome 1
Enamel hypoplasia, Proportionate short stature, Pes planus, Postnatal growth retardation, Sandal ... OMIM:210600
Ectopic ossification, Secondary hyperparathyroidism, Hyperphosphatemia, Stage 5 chronic kidney di... ORPHA:280062
Stuve-Wiedemann Syndrome
Scoliosis, Short phalanx of finger, Pathologic fracture, Micrognathia, Elbow flexion contracture,... OMIM:601559
Tyrosinemia Type 1
Generalized aminoaciduria, Rickets of the lower limbs ORPHA:882
Holoprosencephaly, Semilobar, With Craniosynostosis
Lambdoidal craniosynostosis, Short distal phalanx of finger, Coronal craniosynostosis, Hypoplasti... OMIM:601370
Mietens Syndrome
Hip dysplasia, Hypoplasia of the radius, Elbow dislocation, Talipes, Elbow ankylosis, Hypoplasia ... ORPHA:2557
Primary Fanconi Renotubular Syndrome
Increased urinary potassium, Weight loss, Hypercalciuria, Renal sodium wasting, Chronic kidney di... ORPHA:3337
Microcephaly-Micromelia Syndrome
Oligodactyly, Humeroradial synostosis, Craniosynostosis, Short neck, Narrow chest, Forearm underg... OMIM:251230
Brachyolmia Type 1, Toledo Type
Squared-off platyspondyly, Broad tibial metaphyses, Gait disturbance, Back pain, Irregular verteb... OMIM:271630
Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome
Short femur, Narrow chest, Rhizomelia, Hypoplastic scapulae, Dumbbell-shaped long bone, Brachydac... ORPHA:440354
Multiple Endocrine Neoplasia, Type Iv
Pancreatic endocrine tumor, Elevated circulating growth hormone concentration, Hypothyroidism, Re... OMIM:610755
Mesomelic Dysplasia, Kantaputra Type
Cubitus valgus, Camptodactyly of finger, Tarsal synostosis, Abnormality of the ankles, Synostosis... ORPHA:1836
Dyschondrosteosis And Nephritis
Radial bowing, Short forearm, Madelung deformity, Short tibia, Ulnar bowing OMIM:127350
Brachydactylous Dwarfism, Mseleni Type
Platyspondyly, Osteoarthritis of the elbow, Protrusio acetabuli, Stiff shoulders, Hip osteoarthri... ORPHA:2619
Gitelman Syndrome
Palpitations, Hypocalciuria, Hypotension, Nocturia, Renal potassium wasting, Polyuria, Enuresis, ... OMIM:263800
Bartter Syndrome, Type 1, Antenatal
Renal juxtaglomerular cell hypertrophy/hyperplasia, Increased urinary potassium, Hypercalciuria, ... OMIM:601678
Lipoid Congenital Adrenal Hyperplasia
Hypospadias, Adrenogenital syndrome, Congenital adrenal hyperplasia, Renal salt wasting OMIM:201710
Hypoplasia of the radius, Epiphyseal stippling, Short metatarsal, Short toe, Abnormal form of the... ORPHA:950
Phocomelia-Ectrodactyly-Deafness-Sinus Arrhythmia Syndrome
Radial club hand, Upper limb phocomelia, Hypoplasia of the ulna, Short humerus, Aplasia/Hypoplasi... ORPHA:2878
Scoliosis, Irregular carpal bones, Short phalanx of finger, Metaphyseal irregularity, Joint laxit... OMIM:177170
Atelosteogenesis Type Ii
Short phalanx of finger, Narrow chest, Elbow dislocation, Hitchhiker thumb, Camptodactyly, Sandal... ORPHA:56304
Spondyloepiphyseal Dysplasia Tarda, Kohn Type
Abnormal ilium morphology, Platyspondyly, Abnormality of the knee, Abnormal vertebral morphology,... ORPHA:163665
Ivic Syndrome
Small thenar eminence, Limited wrist movement, Hypoplasia of the radius, Short femur, Upper limb ... OMIM:147750
Gollop-Wolfgang Complex
Aplasia/Hypoplasia of the tibia, Hand monodactyly, Ectrodactyly, Aplasia/Hypoplasia of the ulna, ... ORPHA:1986
Bile Acid Conjugation Defect 1
Rickets, Conjugated hyperbilirubinemia OMIM:619232
Grant Syndrome
Wormian bones, Abnormality of the glenoid fossa, Narrow chest, Joint hyperflexibility, Sprengel a... ORPHA:2097
Multiple Metaphyseal Dysplasia
Hyperlordosis, Broad distal phalanx of finger, Abnormality of tibia morphology, Abnormality of ep... ORPHA:93430
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Hypocalcemia, Platyspondyly, Kyphosis, Osteopetrosis, Ataxia, Metaphyseal widening OMIM:618476
Cenani-Lenz Syndactyly Syndrome
Micrognathia, Hypoplasia of the radius, Syndactyly, Hypoplasia of the ulna OMIM:212780
Oculocerebrodental Syndrome
Enamel hypoplasia, Hypocalcemia, Conductive hearing impairment, Metaphyseal dysplasia, Hearing im... ORPHA:557003
Dyggve-Melchior-Clausen Disease
Iliac crest serration, Hyperactivity, Short neck, Atlantoaxial instability, Limited elbow extensi... ORPHA:239
Chromosome 17Q23.1-Q23.2 Duplication Syndrome
Hip dysplasia, Genu valgum, Acetabular dysplasia, Talipes equinovarus, Coxa valga OMIM:613618
Ulnar/Fibula Ray Defect-Brachydactyly Syndrome
Postaxial oligodactyly, Aplasia/Hypoplasia of the fibula, Short foot, Talipes equinovarus, Brachy... ORPHA:52056
Infantile Systemic Hyalinosis
Osteoporosis, Camptodactyly of finger, Chronic diarrhea, Recurrent fractures, Steatorrhea, Osteom... ORPHA:2176
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome
Aplasia of the proximal phalanges of the hand, Finger syndactyly, Hypoplasia of the ulna, Short l... ORPHA:2256
Bowing of the long bones, Abnormal joint morphology OMIM:156250
Primary Parathyroid Hyperplasia
Hypophosphatemia, Parathyroid hyperplasia, Osteoporosis, Shortened QT interval, Hypercalciuria, H... ORPHA:99878
Insulin-Like Growth Factor I Deficiency
Decreased body weight, Radial deviation of finger, Clinodactyly, Osteopenia, Micrognathia OMIM:608747
Orofaciodigital Syndrome Type 10
Mesomelic arm shortening, Radial deviation of the hand, Prominent calcaneus, Fibular aplasia, Tar... ORPHA:2756
Epiphyseal Dysplasia, Multiple, With Miniepiphyses
Generalized joint laxity, Lumbar hyperlordosis, Irregular patellae, Patellar hypoplasia, Genu var... OMIM:609325
Joint hypermobility, Abnormality of long bone morphology, Hip subluxation, Craniosynostosis, Hyps... ORPHA:356961
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Wormian bones, Platyspondyly, Short femur, Short neck, Thoracic hypoplasia, Beaded ribs, Flexion ... OMIM:616897
Larsen-Like Osseous Dysplasia-Short Stature Syndrome
Hip dysplasia, Scoliosis, Abnormal form of the vertebral bodies, Abnormality of the metacarpal bo... ORPHA:2370
Deafness, X-Linked 6
Hearing impairment, Cochlear malformation OMIM:300914
Scoliosis, Sclerotic vertebral body, Abnormal form of the vertebral bodies, Kyphosis, Abnormal co... ORPHA:2777
Short Rib-Polydactyly Syndrome
Abnormal ilium morphology, Abnormality of long bone morphology, Narrow chest, Polydactyly, Horizo... ORPHA:1505
Multiple Epiphyseal Dysplasia Type 4
Scoliosis, Short metatarsal, Ulnar deviation of the hand, Acetabular dysplasia, Joint stiffness, ... ORPHA:93307
Lipodystrophy, Generalized, With Mental Retardation, Deafness, Short Stature, And Slender Bones
Slender build, Genu valgum, Congenital generalized lipodystrophy, Hypoplasia of the maxilla, Slen... OMIM:608154
Ring Chromosome 10 Syndrome
Hypocalcemia, Abnormality of the antihelix, Aganglionic megacolon, Sandal gap, Low-set ears, Cach... ORPHA:1438
Atelosteogenesis Type I
Scoliosis, Platyspondyly, Short femur, Abnormal ossification involving the femoral head and neck,... ORPHA:1190
Progressive Pseudorheumatoid Dysplasia
Enlarged interphalangeal joints, Joint swelling, Joint stiffness, Waddling gait, Osteoarthritis, ... OMIM:208230
Immunodeficiency 43
Radial bowing, Hypoproteinemia, Hypoplasia of the ulna, Hypoalbuminemia OMIM:241600
Pseudohypoparathyroidism Type 1B
Hypocalcemia, Cortical subperiosteal resorption of humeral metaphyses, Increased bone density wit... ORPHA:94089
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis
Scoliosis, Pes planus, Small epiphyses, Short femoral neck, Advanced ossification of carpal bones... OMIM:618363
Spondylometaphyseal Dysplasia, Kozlowski Type
Irregular acetabular roof, Platyspondyly, Enlarged joints, Pectus carinatum, Carpal bone hypoplas... OMIM:184252
Spondyloepimetaphyseal Dysplasia, Missouri Type
Metaphyseal irregularity, Tibial bowing, Flared metaphysis, Flattened epiphysis, Genu varum, Shor... ORPHA:93356
Jeune Syndrome
Abnormal clavicle morphology, Abnormality of the ribs, Short thorax, Postaxial hand polydactyly, ... ORPHA:474
Hypophosphatemia, Rickets, Aminoaciduria, Nephropathy, Hypokalemia, Failure to thrive, Renal insu... ORPHA:213
Acromesomelic Dysplasia, Maroteaux Type
Scoliosis, Hyperlordosis, Abnormal form of the vertebral bodies, Beaking of vertebral bodies, Kyp... ORPHA:40
Autosomal Dominant Omodysplasia
Elbow dislocation, Rhizomelia, Short 1st metacarpal, Short humerus, Micrognathia, Patellar disloc... ORPHA:93328
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy
Scoliosis, Platyspondyly, Metaphyseal irregularity, Hypoplastic inferior ilia, Rhizomelia, Short ... OMIM:608940
Pacman Dysplasia
Epiphyseal stippling, Bowing of the long bones OMIM:167220
Multiple Epiphyseal Dysplasia Due To Collagen 9 Anomaly
Abnormality of the knee, Genu valgum, Reduced arm span, Abnormality of the ankles, Abnormality of... ORPHA:166002
Squared iliac bones, Broad thumb, Abnormality of epiphysis morphology, Hypoplastic pubic bone, Br... ORPHA:2746
Hypoplastic Tibiae-Postaxial Polydactyly Syndrome
Triphalangeal thumb, Camptodactyly of finger, Postaxial hand polydactyly, Preaxial hand polydacty... ORPHA:3332
Duchenne And Becker Muscular Dystrophy
Scoliosis, Hyperlordosis, Gait disturbance, Slender long bone, Reduced bone mineral density, Join... ORPHA:262
Weismann-Netter Syndrome
Scoliosis, Squared iliac bones, Kyphosis, Fibular bowing, Horizontal sacrum, Calvarial hyperostos... OMIM:112350
Nephrolithiasis, X-Linked Recessive, With Renal Failure
Low-molecular-weight proteinuria, Tubulointerstitial fibrosis, Proximal tubulopathy, Glomerular s... OMIM:310468
Cousin Syndrome
Camptodactyly, Hypoplastic ischia, Wrist flexion contracture, Micrognathia, Anterior rounding of ... OMIM:260660
Lethal Kniest-Like Dysplasia
Platyspondyly, Coronal cleft vertebrae, Mesomelic/rhizomelic limb shortening, Abnormality of the ... ORPHA:2347
Infantile Liver Failure Syndrome 3
Platyspondyly, Beaking of vertebral bodies, Abnormality of the epiphysis of the femoral head, Tal... OMIM:618641
Spondyloepimetaphyseal Dysplasia, X-Linked
Short phalanx of finger, Broad long bone diaphyses, Metaphyseal irregularity, Flared iliac wing, ... OMIM:300106
Spondyloepimetaphyseal Dysplasia, Di Rocco Type
Irregular acetabular roof, Platyspondyly, Delayed ossification of carpal bones, Metaphyseal dyspl... OMIM:617974
Fibrodysplasia Ossificans Progressiva
Scoliosis, Small cervical vertebral bodies, Short hallux, Short 1st metacarpal, Progressive cervi... OMIM:135100
Cenani-Lenz Syndrome
Oligodactyly, Scoliosis, Hypoplasia of the radius, Toe syndactyly, Radioulnar synostosis, Elbow d... ORPHA:3258
Occipital Horn Syndrome
Scoliosis, Large iliac wing, Pes planus, Abnormality of fibula morphology, Aplastic clavicle, Hip... ORPHA:198
Alport Syndrome 3, Autosomal Dominant
Hypophosphatemia, Renal insufficiency, Azotemia, Hematuria, Glomerulonephritis, Glomerular baseme... OMIM:104200
Diastrophic Dysplasia
Hypoplastic cervical vertebrae, Hitchhiker thumb, Short finger, Irregular epiphyses, Short long b... OMIM:222600
Spondyloepimetaphyseal Dysplasia, Shohat Type
Scoliosis, Hyperlordosis, Platyspondyly, Delayed epiphyseal ossification, Abnormal vertebral morp... ORPHA:93352
Epiphyseal Dysplasia, Multiple, 2
Irregular epiphyses, Epiphyseal dysplasia, Flattened epiphysis, Genu varum, Knee osteoarthritis, ... OMIM:600204
Exostoses, Multiple, Type I
Genu valgum, Scapular exostoses, Madelung-like forearm deformities, Rib exostoses, Coxa vara, Pro... OMIM:133700
Medullary Sponge Kidney
Hypercalciuria, Hematuria, Nephrolithiasis, Distal renal tubular acidosis ORPHA:1309
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations
Scoliosis, Generalized bone demineralization, Short phalanx of finger, Shield chest, Elbow disloc... OMIM:143095
Orofaciodigital Syndrome Viii
Polydactyly, Short tibia, Syndactyly OMIM:300484
Achondrogenesis, Type Ia
Hypoplasia of the radius, Abnormal hand bone ossification, Short neck, Barrel-shaped chest, Hypop... OMIM:200600
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Hypocalcemia, Short palm, Postnatal growth retardation, Severe intrauterine growth retardation, L... OMIM:241410
Chromosome 3Q29 Deletion Syndrome
Gait ataxia, Macrotia, Low-set ears, Posteriorly rotated ears, Small for gestational age, Failure... OMIM:609425
Hypocalcemia, Autosomal Dominant 1
Abnormal renal physiology, Hypocalcemia, Increased circulating renin level, Hypercalciuria, Hypok... OMIM:601198
Atelosteogenesis, Type Ii
Scoliosis, Hitchhiker thumb, Short greater sciatic notch, Sandal gap, Flat acetabular roof, Short... OMIM:256050
Ulna Metaphyseal Dysplasia Syndrome
Abnormal form of the vertebral bodies, Aplasia/Hypoplasia of the radius, Abnormality of the metac... ORPHA:1837
Coxopodopatellar Syndrome
Hip dysplasia, Abnormality of the knee, Abnormality of epiphysis morphology, Aplasia/Hypoplasia o... ORPHA:1509
Pyle Disease
Scoliosis, Genu valgum, Limited elbow extension, Platyspondyly, Hypoplastic frontal sinuses, Meta... OMIM:265900
Enamel-Renal Syndrome
Impaired renal concentrating ability, Abnormal calcium-phosphate regulating hormone level, Hypoca... ORPHA:1031
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type
Disc-like vertebral bodies, Narrow chest, Hypoplastic ilia, Decreased cranial base ossification, ... OMIM:151210
Craniodiaphyseal Dysplasia
Craniofacial hyperostosis, Abnormality of the ribs, Diaphyseal thickening ORPHA:1513
Spondylometaphyseal Dysplasia, Schmidt Type
Genu valgum, Platyspondyly, Hypoplastic pelvis, Short long bone, Metaphyseal dysplasia, Joint dis... ORPHA:93316
Dysostosis Multiplex, Ain-Naz Type
Scoliosis, Difficulty walking, Hypoplastic iliac wing, Hemivertebrae, Flat acetabular roof, Gleno... OMIM:619345
Polydactyly, Postaxial, With Dental And Vertebral Anomalies
Postaxial hand polydactyly, Tarsal synostosis, Toe syndactyly, Broad toe, Short middle phalanx of... OMIM:263540
Spondylometaphyseal Dysplasia, Algerian Type
Anterior rib cupping, Genu valgum, Platyspondyly, Hypoplastic pelvis, Carpal bone hypoplasia, Fla... OMIM:184253
Hyperparathyroidism, Primary, Caused By Water Clear Cell Hyperplasia
Primary hyperparathyroidism OMIM:600166
Spondyloepimetaphyseal Dysplasia, Strudwick Type
Scoliosis, Genu valgum, Delayed pubic bone ossification, Club-shaped proximal femur, Hyperlordosi... OMIM:184250
Spondylometaphyseal Dysplasia, Axial
Anterior rib cupping, Proximal femoral metaphyseal irregularity, Platyspondyly, Rhizomelia, Thora... OMIM:602271
Colchicine Poisoning
Hypophosphatemia, Hypocalcemia, Cardiogenic shock, Arrhythmia, Hypovolemia, Hypotension, Hyponatr... ORPHA:31824
Skeletal Dysplasia And Progressive Central Nervous System Degeneration, Lethal
Hypoplasia of the radius, Short neck, Hypoplastic pelvis, Prominent palmar flexion creases, Rhizo... OMIM:602613
Distal Renal Tubular Acidosis
Hypocitraturia, Low-molecular-weight proteinuria, Hyperphosphaturia, Rickets, Renal potassium was... ORPHA:18
Platyspondyly, Delayed closure of the anterior fontanelle, Absent frontal sinuses, Progressive bo... OMIM:224300
Dyggve-Melchior-Clausen Disease
Scoliosis, Short metatarsal, Shield chest, Carpal bone hypoplasia, Camptodactyly, Pes planus, Tho... OMIM:223800
Melnick-Needles Syndrome
Scoliosis, Abnormality of the ribs, Short thorax, Anisospondyly, Narrow chest, Craniofacial hyper... ORPHA:2484
Metaphyseal Acroscyphodysplasia
Scoliosis, Abnormality of femur morphology, Bowing of the long bones, Cone-shaped epiphysis, Join... ORPHA:1240
Acrorenal-Mandibular Syndrome
Rudimentary fibula, Hypoplasia of the radius, Hand polydactyly, Toe syndactyly, Narrow chest, Spl... OMIM:200980
Hypercalciuria, Absorptive, 2
Hypercalciuria, Calcium oxalate nephrolithiasis OMIM:143870
Craniosynostosis With Fibular Aplasia
Craniosynostosis, Fibular aplasia, Single transverse palmar crease OMIM:218550
Exostoses, Multiple, Type Ii
Genu valgum, Scapular exostoses, Madelung-like forearm deformities, Rib exostoses, Coxa vara, Pro... OMIM:133701
Caffey Disease
Periosteal thickening of long tubular bones, Tibial bowing, Bowing of the legs, Cortical irregula... OMIM:114000
Cardiogenic Shock
Low pulse pressure, Right ventricular failure, Hypotension, Elevated circulating creatinine conce... ORPHA:97292
Wilson Disease
Osteoporosis, Joint hypermobility, Hyperphosphaturia, Proteinuria, Aminoaciduria, Glycosuria, Hyp... OMIM:277900
Craniosynostosis-Mental Retardation-Clefting Syndrome
Craniosynostosis, Forearm undergrowth, Lower limb undergrowth OMIM:218650
Greenberg Dysplasia
Epiphyseal stippling, Short phalanx of finger, Sandal gap, Abnormal pelvis bone ossification, Abn... OMIM:215140
Deafness, Autosomal Recessive 4, With Enlarged Vestibular Aqueduct
Sensorineural hearing impairment, Incomplete partition of the cochlea type II, Enlarged vestibula... OMIM:600791
Gorham-Stout Disease
Osteolysis, Abnormal bone ossification, Abnormality of finger, Patchy reduction of bone mineral d... ORPHA:73
Thanatophoric Dysplasia Type 1
Platyspondyly, Abnormal sacroiliac joint morphology, Short femur, Narrow chest, Split hand, Hypop... ORPHA:1860
Tibial Hemimelia
Radial club hand, Tarsal synostosis, Polydactyly, Split hand, Hemivertebrae, Metatarsus adductus,... ORPHA:93322
Acrocapitofemoral Dysplasia
Scoliosis, Hyperlordosis, Short thorax, Narrow chest, Flared iliac wing, Pectus carinatum, Short ... ORPHA:63446
Heart Defects-Limb Shortening Syndrome
Abnormality of the ribs, Narrow chest, Mesomelic/rhizomelic limb shortening, Abnormal form of the... ORPHA:1354
Pseudohypoparathyroidism Type 2
Hypocalcemia, Pseudohypoparathyroidism, Hypocalcemic tetany, Elevated circulating parathyroid hor... ORPHA:94090
Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome
Hip dysplasia, Clinodactyly of the 5th finger, Radioulnar synostosis, Finger syndactyly ORPHA:71289
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies
Cryptorchidism, Adrenal hypoplasia, Hypercalciuria, Hypercalcemia, Hypospadias, Micropenis, Decre... OMIM:614732
Camurati-Engelmann Disease
Scoliosis, Abnormality of tibia morphology, Pes planus, Hyperostosis, Waddling gait, Abnormality ... ORPHA:1328
Brachydactyly-Ectrodactyly With Fibular Aplasia Or Hypoplasia
Short phalanx of finger, Aplasia/Hypoplasia of the fibula, Split foot, Fibular aplasia, Brachydac... OMIM:113310
Fibuloulnar Aplasia Or Hypoplasia With Renal Abnormalities
Micrognathia, Mesomelia, Syndactyly, Hypoplasia of the ulna OMIM:228940
Multiple Endocrine Neoplasia Type 4
Hyperinsulinemic hypoglycemia, Increased circulating cortisol level, Elevated circulating growth ... ORPHA:276152
Dysplastic Cortical Hyperostosis
Abnormality of limb bone morphology, Abnormal cortical bone morphology, Limb undergrowth, Increas... ORPHA:2204
Thoracolaryngopelvic Dysplasia
Scoliosis, Hypoplastic pelvis, Hypoplastic iliac wing, Horizontal ribs, Short ribs, Bell-shaped t... OMIM:187760
Mesomelic Dwarfism-Cleft Palate-Camptodactyly Syndrome
Camptodactyly of finger, Abnormality of epiphysis morphology, Elbow dislocation, Abnormal metacar... ORPHA:2631
Hyperparathyroidism-Jaw Tumor Syndrome
Hypophosphatemia, Osteoporosis, Renal insufficiency, Nephrocalcinosis, Shortened QT interval, Par... ORPHA:99880
Occipital Horn Syndrome
Osteoporosis, Limited elbow extension, Genu valgum, Platyspondyly, Joint laxity, Narrow chest, Br... OMIM:304150
Shox-Related Short Stature
Scoliosis, Cubitus valgus, Genu valgum, Short neck, Ulnar radial head dislocation, Madelung defor... ORPHA:314795
Disorder Of Bile Acid Synthesis
Rickets ORPHA:79168
Mccune-Albright Syndrome
Hyperparathyroidism, Elevated circulating growth hormone concentration, Increased circulating cor... OMIM:174800
Fraxe Intellectual Disability
Clumsiness, Intrauterine growth retardation, Prominent ear helix, Recurrent hand flapping, Hypera... ORPHA:100973
Smith-Magenis syndrome
Stereotypy, Brachydactyly, Short stature DECIPHER:8
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Hand polydactyly, Abnormality of the vertebral column, Abnormal vertebral morphology, Short humer... OMIM:314390
Cono-Spondylar Dysplasia
Scoliosis, Kyphosis, Short humerus, Short 4th toe, Short lower limbs, Cone-shaped epiphyses of th... ORPHA:420794
Diastrophic Dwarfism
Scoliosis, Elbow dislocation, Abnormality of the metacarpal bones, Increased bone mineral density... ORPHA:628
Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive, Leroy-Spranger Type
Scoliosis, Genu valgum, Platyspondyly, Decreased hip abduction, Thoracic kyphosis, Irregular vert... OMIM:609223
Primary Hypomagnesemia With Refractory Seizures And Intellectual Disability
Renal potassium wasting, Renal magnesium wasting, Episodic hypokalemia, Hypomagnesemia, Nephrocal... ORPHA:564178
Solitary Bone Cyst
Abnormal ilium morphology, Prominent calcaneus, Abnormality of tibia morphology, Abnormal form of... ORPHA:83468
Spondyloepiphyseal Dysplasia Tarda
Scoliosis, Limited wrist movement, Localized osteoporosis, Joint swelling, Thoracic kyphosis, Fla... ORPHA:93284
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 2
Hyperostosis, Clubbing, Hypoalbuminemia, Periostosis OMIM:614441
Distal Arthrogryposis Type 1
Overlapping fingers, Rocker bottom foot, Camptodactyly of finger, Talipes, Abnormal hip bone morp... ORPHA:1146
Andersen Cardiodysrhythmic Periodic Paralysis
Enamel hypoplasia, Short metatarsal, Short phalanx of finger, Joint laxity, Clinodactyly of the 5... OMIM:170390
Beukes Hip Dysplasia
Hip dysplasia, Shallow acetabular fossae, Avascular necrosis of the capital femoral epiphysis, Os... OMIM:142669
Short-Rib Thoracic Dysplasia 2 With Or Without Polydactyly
Postaxial hand polydactyly, Rhizomelia, Mesomelia, Short foot, Short metacarpal, Brachydactyly OMIM:611263
Van Den Ende-Gupta Syndrome
Distal ulnar hypoplasia, Craniosynostosis, Narrow foot, Ulnar bowing, Elbow flexion contracture, ... OMIM:600920
Richieri Costa-Da Silva Syndrome
Genu valgum, Beaking of vertebral bodies, Decreased anterioposterior diameter of lumbar vertebral... ORPHA:3101
Acrodysostosis 1 With Or Without Hormone Resistance
Scoliosis, Dislocated radial head, Epiphyseal stippling, Short metatarsal, Short phalanx of finge... OMIM:101800
Osteogenesis Imperfecta, Type V
Joint hypermobility, Wormian bones, Platyspondyly, Biconcave vertebral bodies, Pes planus, Recurr... OMIM:610967
Boomerang Dysplasia
Hypoplastic iliac body, Absent radius, Fibular aplasia OMIM:112310
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia
Osteoporosis, Rickets, Proximal tubulopathy, Polyuria, Failure to thrive OMIM:560000
Microphthalmia With Limb Anomalies
Hypoplasia of the premaxilla, Tarsal synostosis, Broad thumb, Abnormality of the metacarpal bones... ORPHA:1106
Diamond-Blackfan Anemia 11
Hypoplasia of the radius, Radioulnar synostosis, Forearm reduction defects, Hypoplasia of the uln... OMIM:614900
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome
Scoliosis, Postaxial hand polydactyly, Elbow dislocation, Abnormal form of the vertebral bodies, ... ORPHA:2916
Melnick-Needles Syndrome
Narrow chest, Pes planus, Short distal phalanx of finger, Short clavicles, Cone-shaped epiphyses ... OMIM:309350
Laurin-Sandrow Syndrome
Absent tibia, Hand polydactyly, Fibular duplication, Short foot, Absent radius, Syndactyly, Patel... OMIM:135750
Kuskokwim Syndrome
Abnormal clavicle morphology, Scoliosis, Talipes, Abnormal form of the vertebral bodies, Gait dis... ORPHA:1149
Parathyroid Carcinoma
Hypophosphatemia, Parathyroid carcinoma, Renal insufficiency, Nephrocalcinosis, Osteoporosis, Sho... ORPHA:143
Wormian Bone-Multiple Fractures-Dentinogenesis Imperfecta-Skeletal Dysplasia
Wormian bones, Upper limb undergrowth, Abnormal cortical bone morphology, Pathologic fracture, To... ORPHA:166277
Cleidorhizomelic Syndrome
Rhizomelia, Short middle phalanx of the 5th finger, Clinodactyly of the 5th finger, Brachydactyly... ORPHA:1453
Pendred Syndrome
Goiter, Hypothyroidism, Nephropathy, Thyroid carcinoma, Hyperparathyroidism ORPHA:705
Short Ulna-Dysmorphism-Hypotonia-Intellectual Disability Syndrome
Clinodactyly, Micrognathia, Hypoplasia of the ulna ORPHA:357175
Hyperaldosteronism, Familial, Type Iii
Polyuria, Hyperaldosteronism, Hypertension, Hypercalciuria, Decreased circulating renin level, Hy... OMIM:613677
Cartilage-Hair Hypoplasia
Scoliosis, Hypocalcemia, Abnormality of the metaphysis, Abnormality of the ribs, Short neck, Hype... ORPHA:175
Lethal Congenital Contracture Syndrome Type 1
Short neck, Abnormal form of the vertebral bodies, Abnormality of the elbow, Recurrent fractures,... ORPHA:1486
Spondyloepiphyseal Dysplasia Tarda With Mental Retardation
Anterior beaking of lumbar vertebrae, Platyspondyly, Short greater sciatic notch, Coxa valga OMIM:271620
Heart-Hand Syndrome Type 2
Abnormal clavicle morphology, Short 4th metacarpal, Hand polydactyly, Hemiatrophy, Abnormality of... ORPHA:1350
Kenny-Caffey Syndrome, Type 2
Hypocalcemia, Abnormality of the medullary cavity of the long bones, Transient hypophosphatemia, ... OMIM:127000
Hemorrhagic Fever-Renal Syndrome
Abnormal renal tubule morphology, Hypoproteinemia, Arrhythmia, Gastrointestinal hemorrhage, Intra... ORPHA:340
Acromesomelic Dysplasia, Hunter-Thompson Type
Scoliosis, Tarsal synostosis, Abnormality of the ankles, Elbow dislocation, Abnormally shaped car... ORPHA:968
Epiphyseal Chondrodysplasia, Miura Type
Scoliosis, Finger clinodactyly, Broad hallux, Long hallux, Osteopenia, Arachnodactyly, Epiphyseal... OMIM:615923
Ritscher-Schinzel Syndrome 3
Shortening of all distal phalanges of the fingers, Epiphyseal stippling, Poorly ossified vertebra... OMIM:619135
Pelvis-Shoulder Dysplasia
Hypoplastic ischia, Acetabular dysplasia, Waddling gait, Micrognathia, Fifth finger distal phalan... ORPHA:2839
Mccune-Albright Syndrome
Hypophosphatemia, Renal phosphate wasting, Increased circulating cortisol level, Hyperphosphaturi... ORPHA:562
Spondylometaphyseal Dysplasia, A4 Type
Platyspondyly, Coxa vara, Flared, irregular rib ends, Limitation of joint mobility, Short palm, M... ORPHA:168555
Osteolytic defects of the distal phalanges of the hand, Wormian bones, Scoliosis, Absent frontal ... OMIM:265800
Diffuse Cutaneous Systemic Sclerosis
Osteolysis, Flexion contracture, Hypertensive crisis, Telangiectasia of the skin, Xerostomia, Oli... ORPHA:220393
Anauxetic Dysplasia 1
Platyspondyly, Delayed ossification of carpal bones, Hypoplastic ilia, Short finger, Rhizomelia, ... OMIM:607095
Kniest-Like Dysplasia, Lethal
Platyspondyly, Coronal cleft vertebrae, Metaphyseal irregularity, Short diaphyses, Rhizomelia, Hy... OMIM:245190
Neurologic Disease, Infantile Multisystem, With Osseous Fragility
Osteoporosis, Hip dislocation, Hip subluxation, Recurrent fractures OMIM:256720
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Abnormal clavicle morphology, Platyspondyly, Abnormality of the ribs, Short neck, Narrow chest, A... ORPHA:93267
Spondylometaphyseal Dysplasia, Kozlowski Type
Scoliosis, Genu valgum, Short thorax, Enlarged joints, Platyspondyly, Narrow chest, Abnormality o... ORPHA:93314
Sanjad-Sakati Syndrome
Hypocalcemia, Abnormal dental enamel morphology, Low-set, posteriorly rotated ears, Postnatal gro... ORPHA:2323
Spondyloepiphyseal Dysplasia, Stanescu Type
Platyspondyly, Beaking of vertebral bodies, Hypoplastic ilia, Joint stiffness, Kyphoscoliosis, St... OMIM:616583
Bile Acid Synthesis Defect, Congenital, 1
Rickets, Hyperbilirubinemia, Steatorrhea, Hypocholesterolemia, Failure to thrive OMIM:607765
Mental Retardation, Autosomal Recessive 35
Clinodactyly, Micrognathia, Hypoplasia of the ulna OMIM:615162
Trigonocephaly 2
Microcephaly, Trigonocephaly, Metopic synostosis OMIM:614485
Intellectual Developmental Disorder, Autosomal Recessive 69
Microcephaly, Hyperplasia of the maxilla OMIM:618383
Enthesitis-Related Juvenile Idiopathic Arthritis
Abnormal femoral neck/head morphology, Abnormal hip joint morphology, Abnormal metatarsal morphol... ORPHA:85438
Hypocalcemia, Autosomal Dominant 2
Hypocalcemia OMIM:615361
Pelvic Hypoplasia With Lower-Limb Arthrogryposis
Scoliosis, Congenital foot contractures, Arthrogryposis multiplex congenita, Scapular winging, Na... OMIM:602484
Mucolipidosis Type Iii
Hyperlordosis, Large iliac wing, Abnormal form of the vertebral bodies, Craniofacial hyperostosis... ORPHA:577
Fibula, Recurrent Dislocation Of Head Of
Abnormality of fibula morphology OMIM:135800
Epiphyseal Stippling-Osteoclastic Hyperplasia Syndrome