Gene Summary

Name:
parathyroid hormone
Synonyms:
N/A

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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 Pthtm1a(EUCOMM)Wtsi HOM Early adult 5.72×10-06
abnormal retina morphology Pthtm1a(EUCOMM)Wtsi HOM   Early adult 7.97×10-05
increased bone mineral density Pthtm1a(EUCOMM)Wtsi HOM   Early adult 9.83×10-05

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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.

X-ray

XRay Images Skull Dorso Ventral Orientation

14 Images

X-ray

XRay Images Whole Body Lateral Orientation

14 Images

X-ray

XRay Images Forepaw

14 Images

Anti-nuclear antibody assay

Images

6 Images

X-ray

XRay Images Whole Body Dorso Ventral

14 Images

X-ray

XRay Images Skull Lateral Orientation

14 Images

Legacy Phenotype Associated Images

View all 70 images

Human diseases caused by Pth 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 Pth by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Hypoparathyroidism, Familial Isolated, 1
Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures OMIM:146200

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

Disease Similarity of
phenotypes
Matching phenotypes Source
Retinal Dysplasia, Primary
Falciform retinal fold, Retinal dysplasia OMIM:312550
Epiphyseal Dysplasia, Multiple, 1
Genu valgum, Irregular epiphyses, Hip osteoarthritis, Small epiphyses, Delayed epiphyseal ossific... OMIM:132400
Pseudoachondroplasia
Abnormal form of the vertebral bodies, Short long bone, Flat acetabular roof, Increased laxity of... ORPHA:750
Spondyloepimetaphyseal Dysplasia, Irapa Type
Abnormal metaphysis morphology, Abnormal carpal morphology, Genu valgum, Platyspondyly, Short met... ORPHA:93351
Osteochondrosis Of The Metatarsal Bone
Pedal edema, Flattened metatarsal heads, Abnormality of the third metatarsal bone, Arthritis, Str... ORPHA:564003
Eiken Syndrome
Abnormal bone ossification, High iliac wing, Absence of the sacrum, Metaphyseal irregularity, Fib... ORPHA:79106
Pseudopseudohypoparathyroidism
Short 4th metacarpal, Short metatarsal, Ectopic ossification, Brachydactyly, Short distal phalanx... ORPHA:79445
Spondyloperipheral Dysplasia-Short Ulna Syndrome
Hypoplasia of the ulna, Limited elbow extension, Type E brachydactyly, Irregular epiphyses, Delay... ORPHA:1856
Brachydactyly Type C
Clinodactyly of the 5th finger, Short metatarsal, Aplasia/Hypoplasia of the 1st metacarpal, Pseud... ORPHA:93384
Spondylometaphyseal Dysplasia, Kozlowski Type
Short tubular bones of the hand, Short greater sciatic notch, Flat acetabular roof, Flared iliac ... ORPHA:93314
Epiphyseal Dysplasia, Multiple, 5
Genu valgum, Irregular epiphyses, Small epiphyses, Arthralgia of the hip, Delayed ossification of... OMIM:607078
Brachydactyly, Type A1
Thin proximal phalanges with broad epiphyses of the hand, Proportionate shortening of all digits,... OMIM:112500
Hypoparathyroidism, Familial Isolated, 2
Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures OMIM:618883
Metaphyseal Dysplasia Without Hypotrichosis
Metaphyseal striations, Cone-shaped epiphyses of the phalanges of the hand, Abnormality of the ve... OMIM:250460
Metaphyseal Modeling Abnormality, Skin Lesions, And Spastic Paraplegia
Increased bone mineral density OMIM:250500
12q14 microdeletion syndrome
Osteopoikilosis DECIPHER:76
Ghosal Hematodiaphyseal Dysplasia
Abnormal metaphysis morphology, Diaphyseal undertubulation, Abnormal femur morphology, Abnormal t... ORPHA:1802
Epiphyseal Dysplasia, Multiple, 3
Limited elbow extension, Irregular epiphyses, Small epiphyses, Delayed epiphyseal ossification, S... OMIM:600969
Spondyloepimetaphyseal Dysplasia, Irapa Type
Limited elbow extension, Hypoplastic sacrum, Genu valgum, Platyspondyly, Short metatarsal, Upper ... OMIM:271650
Hypocalcemia, Autosomal Dominant 2
Hypocalcemia, Abnormal blood phosphate concentration OMIM:615361
Skeletal Dysplasia With Delayed Epiphyseal And Carpal Bone Ossification
Clinodactyly of the 5th finger, Broad middle phalanx of finger, Delayed epiphyseal ossification, ... OMIM:182255
Multiple Epiphyseal Dysplasia Type 4
Skewfoot, Stiff ankle, Short metacarpal, Joint stiffness, Broad femoral neck, Abnormal forearm bo... ORPHA:93307
Chondrodysplasia Punctata, Tibia-Metacarpal Type
Short 4th metacarpal, Epiphyseal stippling, Short 2nd metacarpal, Short long bone, Micromelia, Sh... OMIM:118651
Hypophosphatemic Rickets, Autosomal Recessive, 1
Rickets, Hypophosphatemic rickets, Increased bone mineral density, Hypophosphatemia, Craniosynost... OMIM:241520
Desbuquois Dysplasia 1
Sandal gap, Hyperlordosis, Flat acetabular roof, Kyphosis, Broad femoral neck, Bifid distal phala... OMIM:251450
Pyknoachondrogenesis
Increased bone mineral density OMIM:265880
Pseudopseudohypoparathyroidism
Short metatarsal, Short metacarpal, Osteoporosis, Pseudohypoparathyroidism, Brachydactyly, Short ... OMIM:612463
Pseudoachondroplasia
Short long bone, Short metacarpal, Kyphosis, Metaphyseal irregularity, Short distal phalanx of fi... OMIM:177170
Talo-Patello-Scaphoid Osteolysis
Short 4th metacarpal, Synovitis, Osteolysis of patellae, Osteolysis of talus, Osteolysis of scaph... ORPHA:50809
Osteomesopyknosis
Increased bone mineral density OMIM:166450
Epiphyseal Dysplasia, Multiple, 4
Flat capital femoral epiphysis, Double-layered patella, Scoliosis, Short metacarpal, Hypoplasia o... OMIM:226900
Hypomagnesemia 1, Intestinal
Hypocalcemia, Hypomagnesemia OMIM:602014
Brachydactyly-Preaxial Hallux Varus Syndrome
Radial club hand, Short metatarsal, Short metacarpal, Broad thumb, Micrognathia, Brachydactyly, P... ORPHA:1278
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)
Hypocalcemia DECIPHER:16
Spondyloperipheral Dysplasia
Rhizomelic leg shortening, Cone-shaped epiphyses of the phalanges of the hand, Short distal phala... OMIM:271700
Wahab Syndrome
Short metacarpal, Camptodactyly, Short foot, Short palm, Syndactyly, Short thumb, Adducted thumb,... OMIM:615170
Metaphyseal Dysplasia With Maxillary Hypoplasia With Or Without Brachydactyly
Flared metaphysis, Short middle phalanx of the 5th finger, Multiple small vertebral fractures, Os... OMIM:156510
Ruvalcaba Syndrome
Delayed puberty, Limited elbow extension, Short metatarsal, Scoliosis, Short metacarpal, Kyphosis... OMIM:180870
Brachyolmia Type 1, Hobaek Type
Short iliac bones, Osteopenia, Squared-off platyspondyly, Lumbar hypolordosis, Platyspondyly, Int... OMIM:271530
Epiphyseal Dysplasia, Multiple, 7
Monkey wrench femoral neck, Vertebral wedging, Flat acetabular roof, Epiphyseal dysplasia, Hypopl... OMIM:617719
Osteopoikilosis And Dacryocystitis
Osteopoikilosis OMIM:166705
Trichorhinophalangeal Syndrome, Type Iii
Osteopenia, Short finger, Cone-shaped epiphyses of the middle phalanges of the hand, Short metata... OMIM:190351
Spondyloepimetaphyseal Dysplasia, Di Rocco Type
Reduced bone mineral density, Delayed ossification of carpal bones, Irregular acetabular roof, Me... OMIM:617974
Adamantinoma
Pathologic fracture, Hypercalcemia ORPHA:55881
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome
Rocker bottom foot, Kyphoscoliosis, Abnormal hip bone morphology, Short long bone, Hyperlordosis,... ORPHA:457395
Chondrodysplasia With Joint Dislocations, Gpapp Type
Limited elbow extension, Capitate-hamate fusion, Genu valgum, Intervertebral space narrowing, Irr... OMIM:614078
Van Buchem Disease
Increased bone mineral density, Cranial hyperostosis, Optic atrophy from cranial nerve compressio... OMIM:239100
Melorheostosis, Isolated
Increased bone mineral density, Hyperostosis OMIM:155950
Acrodysostosis
Abnormal femur morphology, Abnormal form of the vertebral bodies, Short metacarpal, Hypogonadism,... ORPHA:950
Odontochondrodysplasia 1
Biconvex vertebral bodies, Cone-shaped epiphyses of the phalanges of the hand, Delayed ossificati... OMIM:184260
Endosteal Hyperostosis, Worth Type
Diaphyseal undertubulation, Clavicular sclerosis, Sclerotic vertebral body, Abnormal cortical bon... ORPHA:2790
Stargardt Disease 1
Macular degeneration, Retinitis pigmentosa inversa, Bull's eye maculopathy OMIM:248200
Brachydactyly Type E
Aplasia/Hypoplasia of the distal phalanx of the hallux, Type E brachydactyly, Short metatarsal, S... ORPHA:93387
Jackson-Weiss Syndrome
Short first metatarsal, 2-3 toe syndactyly, Calcaneonavicular fusion, Broad proximal phalanx of t... OMIM:123150
Osteomesopyknosis
Sclerotic vertebral body, Abnormal cortical bone morphology, Abnormal form of the vertebral bodie... ORPHA:2777
Rhizomelic Dysplasia, Patterson-Lowry Type
Rhizomelia, Short metatarsal, Deformed humeral heads, Short metacarpal, Coxa vara, Short humerus,... OMIM:601438
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3
Osteopenia, Elevated circulating parathyroid hormone level, Calvarial osteosclerosis, Achilles te... OMIM:617994
Buschke-Ollendorff Syndrome
Joint stiffness, Flexion contracture, Osteopoikilosis OMIM:166700
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor
Rickets, Elevated circulating parathyroid hormone level, Genu valgum, Fibular bowing, Generalized... OMIM:600785
Dyggve-Melchior-Clausen Disease
Narrow greater sciatic notch, Multicentric ossification of proximal humeral epiphyses, Cone-shape... OMIM:223800
Spondylometaphyseal Dysplasia, Type A4
Narrow greater sciatic notch, Sclerotic humeral metaphysis, Metaphyseal sclerosis, Osteoporotic t... OMIM:609052
Acrodysostosis 2 With Or Without Hormone Resistance
Short metatarsal, Short metacarpal, Congenital hypothyroidism, Short phalanx of finger, Diabetes ... OMIM:614613
Pseudohypoparathyroidism, Type Ia
Short finger, Elevated circulating parathyroid hormone level, Short metatarsal, Short metacarpal,... OMIM:103580
Smith-Mccort Dysplasia 2
Limited elbow extension, Genu valgum, Platyspondyly, Short metatarsal, Hyperlordosis, Flat acetab... OMIM:615222
Brachydactyly, Type C
Pseudoepiphysis of the 2nd finger, Triangular shaped middle phalanx of the 2nd finger, Ulnar devi... OMIM:113100
Ossification Of The Posterior Longitudinal Ligament Of Spine
Increased bone mineral density, Ectopic ossification OMIM:602475
Weismann-Netter Syndrome
Abnormal fibula morphology, Abnormal femur morphology, Abnormal tibia morphology, Abnormal hip bo... ORPHA:3344
Hoxha-Aliu Syndrome
Contracture of the proximal interphalangeal joint of the 4th finger, Absent fifth metatarsal, Sho... OMIM:620662
Metaphyseal Chondrodysplasia, Schmid Type
Short tubular bones of the hand, Distal femoral metaphyseal irregularity, Femoral bowing, Short l... ORPHA:174
Osteosclerosis-Ichthyosis-Premature Ovarian Failure Syndrome
Increased bone mineral density ORPHA:75325
Brachydactyly, Preaxial, With Hallux Varus And Thumb Abduction
Short metatarsal, Short hallux, Hitchhiker thumb, Short metacarpal, Hallux varus, Short thumb, Sh... OMIM:112450
Brachydactyly-Syndactyly, Zhao Type
Hallux valgus, Short fifth metatarsal, Short middle phalanx of the 5th finger, Symphalangism affe... ORPHA:93409
Spondylometaphyseal Dysplasia, Pagnamenta Type
Short 4th metacarpal, Rhizomelia, Femoral bowing, Thoracic kyphosis, Broad thumb, Platyspondyly, ... OMIM:619638
Gnathodiaphyseal Dysplasia
Osteopenia, Scoliosis, Bowing of the long bones, Thickened cortex of long bones, Mandibular osteo... ORPHA:53697
Acromesomelic Dysplasia 1
Cone-shaped epiphyses of the phalanges of the hand, Short metacarpal, Broad metatarsal, Joint hyp... OMIM:602875
Hereditary Sensory And Autonomic Neuropathy Type 2
Reduced bone mineral density, Abnormal cortical bone morphology, Abnormal hip bone morphology, Hy... ORPHA:970
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3
Osteopenia, Kyphoscoliosis, Platyspondyly, Flat capital femoral epiphysis, Flared metaphysis, Dis... OMIM:612350
Melorheostosis With Osteopoikilosis
Complete duplication of the distal phalanges of the hand, Abnormal cortical bone morphology, Oste... ORPHA:1879
Brachydactylous Dwarfism, Mseleni Type
Osteopenia, Osteoarthritis of the elbow, Abnormality of the wrist, Hip osteoarthritis, Abnormal f... ORPHA:2619
Acromicric Dysplasia
Short long bone, Short metacarpal, Short foot, Short palm, Short phalanx of finger, Ovoid vertebr... OMIM:102370
Pseudohypoparathyroidism, Type Ii
Hypocalcemia, Hyperphosphatemia OMIM:203330
Dacryocystitis-Osteopoikilosis Syndrome
Increased bone mineral density, Osteopoikilosis ORPHA:1562
Hypophosphatemic Rickets And Hyperparathyroidism
Rickets, Elevated circulating parathyroid hormone level, Hypophosphatemic rickets, Parathyroid hy... OMIM:612089
Pyle Disease
Limited elbow extension, Genu valgum, Cubitus valgus, Reduced bone mineral density, Scoliosis, Hy... OMIM:265900
Hyperostosis Corticalis Generalisata
Diaphyseal undertubulation, Cranial hyperostosis, Abnormal cortical bone morphology, Generalized ... ORPHA:3416
Dentin Dysplasia
Increased bone mineral density ORPHA:1653
Smith-Mccort Dysplasia 1
Beaking of vertebral bodies, Genu valgum, Irregular epiphyses, Hypoplastic acetabulae, Scoliosis,... OMIM:607326
Brachydactyly Type A2
Aplasia/Hypoplasia of the middle phalanx of the 2nd finger, Clinodactyly of the 5th finger, Short... ORPHA:93396
Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type
Limited elbow extension, Osteopenia, Carpal bone hypoplasia, Small epiphyses, Craniosynostosis, S... OMIM:616723
Sclerosteosis
Diaphyseal undertubulation, Abnormal cortical bone morphology, Craniofacial hyperostosis, Finger ... ORPHA:3152
Otospondylomegaepiphyseal Dysplasia
Sandal gap, Tibial bowing, Short metacarpal, Abnormally ossified vertebrae, Dumbbell-shaped femur... ORPHA:1427
Chromosome 8Q22.1 Duplication Syndrome
Pes cavus, Cubitus valgus, Short metatarsal, Cervical C2/C3 vertebral fusion, Genu recurvatum, Li... OMIM:151200
Vitamin D-Dependent Rickets, Type 3
Osteopenia, Hypophosphatemia, Hypocalcemia OMIM:619073
Pseudohypoparathyroidism, Type Ic
Elevated circulating thyroid-stimulating hormone concentration, Elevated circulating parathyroid ... OMIM:612462
Roifman-Chitayat Syndrome
Osteopenia, Short metatarsal, Arthritis, Short metacarpal, Short neck, Cone-shaped epiphysis OMIM:613328
Acromicric Dysplasia
Abnormal femur morphology, Short metacarpal, Joint stiffness, Short palm, Ovoid vertebral bodies,... ORPHA:969
Brachydactyly, Type A1, B
Radial deviation of finger, Cone-shaped epiphyses of the phalanges of the hand, Type A brachydact... OMIM:607004
Angioosteohypotrophic Syndrome
Hypoplasia of the ulna, Abnormality of the hand, Hypoplasia of the radius, Abnormal foot morpholo... ORPHA:75508
Metatropic Dysplasia
Abnormal metaphysis morphology, Clinodactyly of the 5th finger, Abnormal cortical bone morphology... ORPHA:2635
Osteopetrosis, Autosomal Recessive 9
Hyperkalemia, Osteopetrosis, Increased bone mineral density, Cortical sclerosis, Papilledema, Pat... OMIM:620366
Ulnar Hemimelia
Limited elbow movement, Dislocated radial head, Congenital finger flexion contractures, Upper lim... ORPHA:93320
Acrocapitofemoral Dysplasia
Cone-shaped epiphyses of the phalanges of the hand, Hypoplastic iliac wing, Delayed ossification ... OMIM:607778
Short-Rib Thoracic Dysplasia 2 With Or Without Polydactyly
Rhizomelia, Postaxial hand polydactyly, Short metacarpal, Mesomelia, Brachydactyly, Broad palm, S... OMIM:611263
Metatropic Dysplasia
Narrow greater sciatic notch, Kyphoscoliosis, Relatively short spine, Short ribs, Long coccyx, Fl... OMIM:156530
Greenberg Dysplasia
Abnormal bone ossification, Rhizomelia, Abnormal form of the vertebral bodies, Abnormal pelvis bo... ORPHA:1426
Saul-Wilson Syndrome
Platyspondyly, Short metatarsal, Madelung deformity, Cone-shaped epiphyses of the phalanges of th... OMIM:618150
Flynn-Aird Syndrome
Increased bone mineral density, Osteoporosis, Joint stiffness, Rod-cone dystrophy, Increased bone... OMIM:136300
Progressive Osseous Heteroplasia
Limitation of joint mobility, Ectopic ossification in muscle tissue, Osteoarthritis, Brachydactyl... ORPHA:2762
Satoyoshi Syndrome
Genu valgum, Osteolytic defects of the phalanges of the hand, Short metatarsal, Short metacarpal,... OMIM:600705
Acromesomelic Dysplasia, Hunter-Thompson Type
Bilateral single transverse palmar creases, Tarsal synostosis, Abnormally shaped carpal bones, Sc... ORPHA:968
Osteosclerotic Metaphyseal Dysplasia
Increased bone mineral density, Clavicular sclerosis OMIM:615198
Pseudohypoparathyroidism Type 2
Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures, Hypocalcemic tetany ORPHA:94090
Czech Dysplasia
Short metatarsal, Flat capital femoral epiphysis, Intervertebral space narrowing, Narrow iliac wi... OMIM:609162
Ritscher-Schinzel Syndrome 3
Hypoplasia of the ulna, Short first metatarsal, Ulnar bowing, Epiphyseal stippling, Wide anterior... OMIM:619135
Osteosclerosis-Developmental Delay-Craniosynostosis Syndrome
Increased bone mineral density, Craniosynostosis, Optic atrophy ORPHA:178377
Myopathy, Tubular Aggregate, 2
Hypocalcemia, Ankle flexion contracture, Elevated circulating creatine kinase concentration OMIM:615883
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness
Narrow greater sciatic notch, Beaking of vertebral bodies, Mesomelic arm shortening, Cone-shaped ... OMIM:609616
Spondyloepiphyseal Dysplasia-Brachydactyly And Distinctive Speech
Anterior scalloping of vertebral bodies, Hypoplastic iliac wing, Short long bone, Short metacarpa... OMIM:611717
Multiple Epiphyseal Dysplasia Type 1
Genu valgum, Knee joint hypermobility, Arthralgia of the hip, Delayed epiphyseal ossification, Sh... ORPHA:93308
Spondyloepiphyseal Dysplasia Tarda
Kyphoscoliosis, Limited elbow movement, Spurred metaphyses of the upper limbs, Enlarged metaphyse... ORPHA:93284
Metaphyseal Dysplasia, Braun-Tinschert Type
Exostoses of the ulna, Tibial bowing, Wide proximal femoral metaphysis, Broad femoral neck, Hypop... ORPHA:85188
Adams-Oliver Syndrome 3
Short 5th toe, Short metatarsal, Absent toe, 2-3 toe syndactyly, Short palm, Short distal phalanx... OMIM:614814
Fibrodysplasia Ossificans Progressiva
Abnormality of the first metatarsal bone, Spinal rigidity, Abnormal vertebral morphology, Clinoda... ORPHA:337
Metacarpal 4-5 Fusion
2-3 toe cutaneous syndactyly, 4-5 metacarpal synostosis, Clinodactyly of the 5th finger, Short 5t... OMIM:309630
Progressive Pseudorheumatoid Arthropathy Of Childhood
Wrist swelling, Hyperlordosis, Generalized osteoporosis, Broad femoral neck, Abnormality of hand ... ORPHA:1159
Exudative Vitreoretinopathy 7
Retinal detachment, Exudative vitreoretinopathy, Retinal degeneration, Retinal hole, Retinal fold OMIM:617572
Progressive Familial Intrahepatic Cholestasis
Hypocalcemia, Reduced bone mineral density ORPHA:172
Renal Tubular Acidosis, Distal, 1
Hypokalemia, Hypocalcemia, Osteomalacia, Pathologic fracture, Elevated circulating creatinine con... OMIM:179800
Epiphyseal Dysplasia, Multiple, With Severe Proximal Femoral Dysplasia
Abnormality of the hand, Flared femoral metaphysis, Genu valgum, Flat distal femoral epiphysis, A... OMIM:609324
Pde4D Haploinsufficiency Syndrome
Short metacarpal, Broad metatarsal, Joint hypermobility, Cone-shaped epiphysis, Caudal interpedic... ORPHA:439822
Brachydactyly Type B
Finger syndactyly, Short metacarpal, Synostosis of carpal bones, 2nd-5th toe middle phalangeal hy... ORPHA:93383
Heart-Hand Syndrome Type 2
Short 4th metacarpal, Abnormality of the wrist, Abnormal shoulder morphology, Abnormal metacarpal... ORPHA:1350
Syndactyly Type 2
Clinodactyly of the 5th finger, Abnormal metacarpal morphology, Mesoaxial polydactyly, Sandal gap... ORPHA:93403
Acromesomelic Dysplasia 2A
Hypoplasia of the ulna, Hypoplasia of the radius, Fibular hypoplasia, Aplasia/Hypoplasia of metat... OMIM:200700
Cohen Syndrome
Delayed puberty, Decreased response to growth hormone stimulation test, Genu valgum, Cubitus valg... OMIM:216550
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland
Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures, Hypomagnesemia ORPHA:2239
Brachyolmia Type 1, Toledo Type
Kyphoscoliosis, Abnormal odontoid process morphology, Squared-off platyspondyly, Precocious costo... OMIM:271630
Diastrophic Dysplasia
Kyphoscoliosis, Short finger, Genu valgum, Irregular epiphyses, Hitchhiker thumb, Scoliosis, Shor... OMIM:222600
Hyperparathyroidism 4
Osteopenia, Hypercalcemia OMIM:617343
Stickler Syndrome, Type Iv
Genu valgum, Platyspondyly, Flat capital femoral epiphysis, Intervertebral space narrowing, Hypop... OMIM:614134
Acrodysostosis 1 With Or Without Hormone Resistance
Decreased growth hormone responses to growth hormone-releasing hormone challenge, Cone-shaped epi... OMIM:101800
Osteogenesis Imperfecta, Type Viii
Osteopenia, Platyspondyly, Vertebral compression fracture, Slender long bone, Femoral retroversio... OMIM:610915
Acromesomelic Dysplasia 4
Sandal gap, Short metacarpal, Mesomelia, Metaphyseal irregularity, Prominent deltoid tuberosities... OMIM:619636
Atelosteogenesis, Type I
Clubbing, Tibial bowing, Short metacarpal, Short humerus, Thoracic platyspondyly, Fibular aplasia... OMIM:108720
Hip Dysplasia, Beukes Type
Abnormal bone ossification, Abnormality of bone mineral density, Scoliosis, Kyphosis, Coxa vara, ... ORPHA:2114
Spondyloepimetaphyseal Dysplasia, Isidor-Toutain Type
Anemia, Lower-limb metaphyseal irregularity, Enlarged metaphyses, Scoliosis, Short long bone, Upp... OMIM:618728
Spondyloepimetaphyseal Dysplasia, Handigodu Type
Broad femoral neck, Abnormality of the hand, Hump-shaped mound of bone in central and posterior p... ORPHA:99642
Retinoschisis 1, X-Linked, Juvenile
Retinal detachment, Retinal atrophy, Retinoschisis, Peripheral cystoid retinal degeneration, Reti... OMIM:312700
Ollier Disease
Abnormal metaphysis morphology, Anemia, Platyspondyly, Micromelia, Precocious puberty, Joint stif... ORPHA:296
Exudative Vitreoretinopathy 3
Retinal exudate, Retinal detachment, Exudative vitreoretinopathy, Retinal hole, Retinal fold OMIM:605750
Progressive Pseudorheumatoid Dysplasia
Kyphoscoliosis, Abnormal foot morphology, Sclerotic vertebral endplates, Platyspondyly, Enlarged ... OMIM:208230
Acromesomelic Dysplasia 2B
Fibular aplasia, Fibular hypoplasia, Deformed tarsal bones, Rhizomelia, Short metatarsal, Absent ... OMIM:228900
Trichorhinophalangeal Syndrome, Type I
Osteopenia, Cone-shaped epiphyses of the middle phalanges of the hand, Ivory epiphyses of the dis... OMIM:190350
Short Stature, Onychodysplasia, Facial Dysmorphism, And Hypotrichosis
Osteopenia, Breast hypoplasia, Hypoplastic sacrum, Rhizomelia, Short metatarsal, Short metacarpal... OMIM:614813
Epiphyseal Stippling-Osteoclastic Hyperplasia Syndrome
Abnormal bone ossification, Epiphyseal stippling, Bowing of the long bones, Coarse metaphyseal tr... ORPHA:1952
Multiple Endocrine Neoplasia, Type Iib
Pes cavus, Pheochromocytoma, Scoliosis, Hyperlordosis, Kyphosis, Elevated circulating calcitonin ... OMIM:162300
Frontometaphyseal Dysplasia
Limited elbow movement, Limitation of knee mobility, Dislocated radial head, Short metacarpal, Wr... ORPHA:1826
Exostoses, Multiple, Type Ii
Genu valgum, Protuberances at ends of long bones, Short metacarpal, Madelung-like forearm deformi... OMIM:133701
Exostoses, Multiple, Type I
Genu valgum, Protuberances at ends of long bones, Short metacarpal, Madelung-like forearm deformi... OMIM:133700
Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive, Leroy-Spranger Type
Genu valgum, Flat capital femoral epiphysis, Intervertebral space narrowing, Scoliosis, Thoracic ... OMIM:609223
Wormian Bone-Multiple Fractures-Dentinogenesis Imperfecta-Skeletal Dysplasia
Abnormal cortical bone morphology, Upper limb undergrowth, Limitation of joint mobility, Toe clin... ORPHA:166277
Osteoglophonic Dysplasia
Short metacarpal, Broad metatarsal, Broad thumb, Craniosynostosis, Rhizomelia, Short palm, Short ... OMIM:166250
Isolated Osteopoikilosis
Sclerotic foci in hand bones, Abnormal bone ossification, Sclerotic foci within carpal bones, Tar... ORPHA:166119
Maffucci Syndrome
Neoplasm of the parathyroid gland, Ovarian neoplasm, Neoplasm of the adrenal cortex, Scoliosis, P... ORPHA:163634
Autosomal Recessive Kenny-Caffey Syndrome
Hypocalcemic seizures, Calvarial osteosclerosis, Hypocalcemia, Decreased skull ossification, Cort... ORPHA:93324
Slc39A13-Related Spondylodysplastic Ehlers-Danlos Syndrome
Abnormal metaphysis morphology, Osteopenia, Platyspondyly, Flat capital femoral epiphysis, Broad ... ORPHA:157965
Osteogenesis Imperfecta, Type Xxii
Reduced bone mineral density, Slender long bone, Bowing of the long bones, Multiple small vertebr... OMIM:619795
Hypertension And Brachydactyly Syndrome
Short phalanx of finger, Cone-shaped epiphysis, Type E brachydactyly, Short metacarpal OMIM:112410
Leri-Weill Dyschondrosteosis
Limited elbow movement, Tibial bowing, Increased carrying angle, Mesomelia, Coxa valga, Hypoplasi... OMIM:127300
Brachydactyly, Type E, With Atrial Septal Defect, Type Ii
Short 4th metacarpal, Type E brachydactyly, Short metatarsal OMIM:113301
Osteogenesis Imperfecta, Type V
Osteopenia, Anterior radial head dislocation, Platyspondyly, Vertebral wedging, Hyperextensibilit... OMIM:610967
Brachydactyly-Nystagmus-Cerebellar Ataxia
Short metacarpal, Short metatarsal, Brachydactyly OMIM:113400
Intellectual Disability-Facial Dysmorphism-Hand Anomalies Syndrome
Cervical C2/C3 vertebral fusion, Osseous finger syndactyly, 3-4 finger cutaneous syndactyly, Tria... ORPHA:370010
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type
Abnormal cortical bone morphology, Increased bone mineral density, Limb undergrowth, Splenomegaly... ORPHA:2204
Linear Verrucous Nevus Syndrome
Reduced bone mineral density, Talipes, Genu recurvatum, Scoliosis, Short metacarpal, Toe syndactyly ORPHA:2611
Split-Hand/Foot Malformation 4
Aplasia/Hypoplasia of metatarsal bones, Triphalangeal thumb, Aplasia/Hypoplasia of the phalanges ... OMIM:605289
Spondyloepimetaphyseal Dysplasia, X-Linked
Cone-shaped epiphyses of the phalanges of the hand, Delayed ossification of carpal bones, Short l... OMIM:300106
Acromesomelic Dysplasia 2C
Hypoplasia of the ulna, Hypoplasia of the radius, Fibular hypoplasia, Abnormally shaped carpal bo... OMIM:201250
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly
Short metatarsal, Sandal gap, Cone-shaped epiphyses of the phalanges of the hand, Flat acetabular... OMIM:617102
Marinesco-Sjogren Syndrome
Cubitus valgus, Short metatarsal, Scoliosis, Short metacarpal, Kyphosis, Hypergonadotropic hypogo... OMIM:248800
Brachydactyly, Type E2
Short metacarpal, Short metatarsal, Brachydactyly OMIM:613382
Polydactyly, Postaxial, Type A7
Short fifth metatarsal, 2-3 toe cutaneous syndactyly, Postaxial hand polydactyly, Postaxial foot ... OMIM:617642
Jackson-Weiss Syndrome
Abnormal fibula morphology, Short metatarsal, 2-3 toe syndactyly, Broad metatarsal, Split foot, S... ORPHA:1540
Summitt Syndrome
Short 4th metacarpal, Genu valgum, Clinodactyly of the 5th finger, Finger syndactyly, Short palm,... ORPHA:3210
Desbuquois Dysplasia 2
Short long bone, Flat acetabular roof, Short metacarpal, Broad thumb, Joint hypermobility, Genu v... OMIM:615777
Spondyloepimetaphyseal Dysplasia Congenita, Strudwick Type
Restricted large joint movement, Abnormal vertebral morphology, Maternal diabetes, Small epiphyse... ORPHA:93346
Pseudohypoparathyroidism Type 1C
Short 4th metacarpal, Decreased response to growth hormone stimulation test, Elevated circulating... ORPHA:79444
Hypocalcemic Vitamin D-Resistant Rickets
Abnormal metaphysis morphology, Genu valgum, Osteolysis, Abnormal hip bone morphology, Abnormal f... ORPHA:93160
Spondylometaphyseal Dysplasia With Corneal Dystrophy
Beaking of vertebral bodies, Lumbar platyspondyly, Increased intervertebral space, Short long bon... OMIM:618961
Late-Onset Retinal Degeneration
Sub-RPE deposits, Choroidal neovascularization, Chorioretinal degeneration, Retinopathy, Retinal ... OMIM:605670
Anauxetic Dysplasia 3
Beaking of vertebral bodies, Hip subluxation, Genu valgum, Platyspondyly, Broad middle phalanx of... OMIM:618853
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Aplasia/hypoplasia of the femur, Proximal placement of thumb, Hypoplastic pubic ramus, Dislocated... OMIM:609945
Multiple Epiphyseal Dysplasia, Beighton Type
Lumbar platyspondyly, Abnormal hand metaphysis morphology, Joint stiffness, Biconcave vertebral b... ORPHA:166011
Multiple Endocrine Neoplasia Type 1
Adrenocortical abnormality, Neoplasm of the pancreas, Reduced bone mineral density, Pheochromocyt... ORPHA:652
Osteogenesis Imperfecta, Type Xxiii
Osteopenia, Genu valgum, Reduced bone mineral density, Broad femoral head, Severe platyspondyly, ... OMIM:620639
Spondyloepiphyseal Dysplasia, Nishimura Type
Hypocalcemia, Hyperphosphatemia, Delayed epiphyseal ossification OMIM:618618
Albers-Schönberg Osteopetrosis
Optic atrophy, Hypocalcemia, Arthritis, Recurrent fractures, Osteoarthritis, Generalized osteoscl... ORPHA:53
X-Linked Retinal Dysplasia
Abnormal retinal vascular morphology, Abnormality of retinal pigmentation, Retinal dysplasia ORPHA:1852
Spondyloepiphyseal Dysplasia Tarda, Kohn Type
Restricted large joint movement, Abnormal vertebral morphology, Abnormal ilium morphology, Bilate... ORPHA:163665
Heyn-Sproul-Jackson Syndrome
11 pairs of ribs, Broad metacarpals, Short metacarpal, Short phalanx of finger, Broad phalanx OMIM:618724
Greenberg Dysplasia
Short ribs, Short long bone, Short metacarpal, Decreased skull ossification, Multiple prenatal fr... OMIM:215140
Larsen Syndrome
Multiple carpal ossification centers, Spondylolysis, Knee dislocation, Short metacarpal, Dislocat... OMIM:150250
Spondyloepiphyseal Dysplasia, Stanescu Type
Kyphoscoliosis, Beaking of vertebral bodies, Internal tibial torsion, Stiff neck, Vertebral wedgi... OMIM:616583
Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy
Hypocalcemia, Hyponatremia, Hypomagnesemia, Hypokalemia OMIM:620152
Dysspondyloenchondromatosis
Kyphoscoliosis, Abnormal fibula morphology, Abnormal ulnar metaphysis morphology, Genu valgum, Pl... ORPHA:85198
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly
Aplasia/hypoplasia of the femur, Hypoplastic iliac wing, Femoral bowing, Hypoplastic pelvis, Apla... OMIM:228930
Familial Expansile Osteolysis
Thin bony cortex, Pathologic fracture, Bowing of the long bones, Osteolysis OMIM:174810
Acromegaloid Facial Appearance Syndrome
Micrognathia, Large hands, Joint hypermobility, Tapered finger, Short 5th metacarpal OMIM:102150
Patent Ductus Arteriosus And Bicuspid Aortic Valve With Hand Anomalies
Short finger, Clinodactyly of the 5th finger, Short toe, Brachydactyly, Patent ductus arteriosus,... OMIM:604381
Paternal Uniparental Disomy Of Chromosome X
Decreased testicular size, Short neck, Cubitus valgus, Short metacarpal ORPHA:261524
Trichorhinophalangeal Syndrome Type 1
Clinodactyly of the 5th finger, Short metatarsal, Scoliosis, Hyperlordosis, Short metacarpal, Cam... ORPHA:77258
Hand-Foot-Genital Syndrome
Clinodactyly of the 5th finger, Proximal placement of thumb, Short first metatarsal, Short hallux... OMIM:140000
Spondyloepimetaphyseal Dysplasia, Shohat Type
Generalized bone demineralization, Short long bone, Hyperlordosis, Metaphyseal irregularity, Abno... ORPHA:93352
Spondylometaphyseal Dysplasia, Kozlowski Type
Narrow greater sciatic notch, Kyphoscoliosis, Carpal bone hypoplasia, Abnormal foot morphology, C... OMIM:184252
Craniodiaphyseal Dysplasia, Autosomal Dominant
Optic atrophy, Craniofacial hyperostosis, Diaphyseal sclerosis, Cortical sclerosis, Papilledema, ... OMIM:122860
Chondroectodermal Dysplasia With Night Blindness
Osteopenia, Equinovarus deformity, Talipes calcaneovarus, Fractures of the long bones, Wide humer... ORPHA:319195
Ulna Metaphyseal Dysplasia Syndrome
Hypercalcemia OMIM:191420
Blue Diaper Syndrome
Abnormal circulating tryptophan concentration, Hypercalcemia OMIM:211000
Lethal Congenital Contracture Syndrome Type 1
Abnormal cortical bone morphology, Abnormal hip bone morphology, Slender long bone, Abnormal form... ORPHA:1486
Multiple Osteochondromas
Abnormal femur morphology, Limitation of knee mobility, Abnormal lower limb bone morphology, Defo... ORPHA:321
Spondylometaphyseal Dysplasia, X-Linked
Short finger, Platyspondyly, Hyperextensibility of the finger joints, Kyphosis, Thoracolumbar sco... OMIM:313420
Hypochondroplasia
Limited elbow extension, Flared metaphysis, Short long bone, Aplasia/hypoplasia of the extremitie... OMIM:146000
Familial Drusen
Granular macular appearance, Macular dystrophy, Peripapillary chorioretinal atrophy, Choroidal ne... ORPHA:75376
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Leptodactylic Type
Kyphoscoliosis, Kyphosis, Slender metacarpals, Metaphyseal irregularity, Joint hypermobility, Gen... ORPHA:93360
Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Rickets, Fibular bowing, Enlargement of the wrists, Delayed epiphyseal ossification, Enlargement ... OMIM:600081
Ck Syndrome
Abnormal cortical bone morphology, Scoliosis, Hyperlordosis, Abnormal digit morphology, Kyphosis,... OMIM:300831
Lissencephaly Type 3-Metacarpal Bone Dysplasia Syndrome
Abnormal cartilage matrix, Epiphyseal stippling, Abnormal bone structure, Short metacarpal, Short... ORPHA:86822
Autosomal Dominant Hypophosphatemic Rickets
Rickets, Osteomalacia, Hypophosphatemia, Hypocalcemia ORPHA:89937
Hypoparathyroidism, Familial Isolated, 1
Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures OMIM:146200
Temtamy Preaxial Brachydactyly Syndrome
Tarsal synostosis, Short metatarsal, Hitchhiker thumb, Short metacarpal, Syndactyly, Brachydactyl... OMIM:605282
Metaphyseal Chondrodysplasia, Schmid Type
Femoral bowing, Broad femoral neck, Abnormal proximal femoral metaphysis morphology, Distal tibia... OMIM:156500
Retinopathy, Pericentral Pigmentary, Dominant
Bone spicule pigmentation of the retina, Retinal dystrophy, Retinal atrophy, Retinopathy, Attenua... OMIM:180210
Pseudohypoparathyroidism Type 1A
Reduced bone mineral density, Short metacarpal, Short 4th metacarpal, Decreased response to growt... ORPHA:79443
Cranio-Osteoarthropathy
Abnormal tibia morphology, Abnormal cortical bone morphology, Arthritis, Deviation of finger, Joi... ORPHA:1525
Rhizomelic Dysplasia, Patterson-Lowry Type
Genu valgum, Rhizomelia, Abnormal form of the vertebral bodies, Hyperlordosis, Deformed humeral h... ORPHA:2831
Brachydactyly-Arterial Hypertension Syndrome
Short phalanx of finger, Short metacarpal, Brachydactyly ORPHA:1276
Spondyloepimetaphyseal Dysplasia, Strudwick Type
Narrow greater sciatic notch, Genu valgum, Delayed pubic bone ossification, Metaphyseal dappling,... OMIM:184250
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly
Short long bone, Femoral bowing, Hyperlordosis, Kyphosis, Metaphyseal irregularity, Joint hypermo... OMIM:618019
Axial Osteomalacia
Increased bone mineral density, Osteomalacia, Elevated circulating creatine kinase concentration OMIM:109130
Dentin Dysplasia With Sclerotic Bones
Cortical sclerosis OMIM:125440
Osteosclerosis With Ichthyosis And Fractures
Increased bone mineral density, Recurrent fractures, Cortical thickening of long bone diaphyses OMIM:166740
Multiple Endocrine Neoplasia Type 4
Abnormality of the endocrine system, Pituitary growth hormone cell adenoma, Pituitary corticotrop... ORPHA:276152
Roifman Syndrome
Biconvex vertebral bodies, Clinodactyly of the 5th finger, Single transverse palmar crease, Short... OMIM:616651
Caffey Disease
Scoliosis, Calvarial hyperostosis, Cortical irregularity, Periosteal thickening of long tubular b... ORPHA:1310
Pseudohypoparathyroidism Type 1B
Hypocalcemic seizures, Diaphyseal sclerosis, Increased bone mineral density, Hypocalcemia, Hypoca... ORPHA:94089
Osteopetrosis, Autosomal Dominant 1
Osteopetrosis, Calvarial osteosclerosis, Thickened cortex of long bones, Generalized osteoscleros... OMIM:607634
Endosteal Hyperostosis, Autosomal Dominant
Clavicular sclerosis, Sclerotic vertebral body, Metacarpal diaphyseal endosteal sclerosis, Hypero... OMIM:144750
Split-Hand/Foot Malformation 2
Finger syndactyly, Split hand, Short metacarpal, Split foot, Short phalanx of finger OMIM:313350
Intermediate Osteopetrosis
Optic atrophy from cranial nerve compression, Abnormality of bone mineral density, Recurrent frac... ORPHA:210110
Upper Limb Defect-Eye And Ear Abnormalities Syndrome
Short thumb, Cryptorchidism, Short metacarpal ORPHA:2489
Atelosteogenesis, Type Ii
Sandal gap, Bifid humerus, Short greater sciatic notch, Flat acetabular roof, Dumbbell-shaped fem... OMIM:256050
Chst3-Related Skeletal Dysplasia
Kyphoscoliosis, Genu valgum, Irregular epiphyses, Rhizomelia, Small epiphyses, Cubitus valgus, Ab... ORPHA:263463
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3
Hypoplasia of the ulna, Carpal bone hypoplasia, Platyspondyly, Joint hypermobility, Dislocated ra... OMIM:618395
Hypophosphatemic Rickets, X-Linked Recessive
Rickets, Hypophosphatemic rickets, Fibular bowing, Enlargement of the wrists, Delayed epiphyseal ... OMIM:300554
Postaxial Oligodactyly, Tetramelic
Aplasia of the 5th metacarpal, Lunate-triquetral fusion, Single transverse palmar crease, Absent ... OMIM:176240
Atelosteogenesis Type Ii
Sandal gap, Tracheobronchomalacia, Short ribs, Short metacarpal, Short lower limbs, Dumbbell-shap... ORPHA:56304
Osteopetrosis, Autosomal Recessive 1
Optic atrophy, Femur fracture, Osteopetrosis, Calvarial osteosclerosis, Increased bone mineral de... OMIM:259700
Kenny-Caffey Syndrome, Type 2
Transient hypophosphatemia, Increased bone mineral density, Hypocalcemia, Retinal calcification, ... OMIM:127000
Autoimmune Hypoparathyroidism
Hypocalcemic seizures, Increased bone mineral density, Hypocalcemia, Hypocalcemic tetany, Hyperph... ORPHA:36913
Mueller-Weiss Syndrome
Knee osteoarthritis, Arthritis, Limitation of movement at ankles, Joint stiffness, Sclerosis of f... ORPHA:566943
Spondyloepimetaphyseal Dysplasia, Shohat Type
Narrow greater sciatic notch, Short ribs, Splenomegaly, Metaphyseal irregularity, Joint hypermobi... OMIM:602557
Patent Ductus Arteriosus-Bicuspid Aortic Valve-Hand Anomalies Syndrome
Clinodactyly of the 5th finger, Abnormal hand morphology, Patent ductus arteriosus, Short digit, ... ORPHA:228190
Weill-Marchesani Syndrome 2
Short finger, Flexion contracture of toe, Short metatarsal, Broad phalanges of the hand, Scoliosi... OMIM:608328
Bruck Syndrome 1
Ankle flexion contracture, Platyspondyly, Vertebral wedging, Scoliosis, Elbow flexion contracture... OMIM:259450
Hyperparathyroidism 1
Hypercalcemia OMIM:145000
Distal Deletion 10Q
2-3 toe cutaneous syndactyly, Pes valgus, Clinodactyly of the 5th finger, Short metatarsal, Sanda... ORPHA:96148
Craniometadiaphyseal Dysplasia, Wormian Bone Type
Short tubular bones of the hand, Osteopenia, Abnormal foot morphology, Abnormal diaphysis morphol... ORPHA:85184
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type
Triangular shaped distal phalanges of the hand, Short long bone, Short ribs, Short metacarpal, Fl... OMIM:271665
Spondylometaphyseal Dysplasia, Sedaghatian Type
Narrow greater sciatic notch, Cone-shaped epiphyses of the phalanges of the hand, Short ribs, Sho... OMIM:250220
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures
Kyphoscoliosis, Broad distal phalanx of finger, Dislocated radial head, Short long bone, Large il... OMIM:271640
Hypophosphatemic Rickets, X-Linked Dominant
Rickets, Elevated circulating parathyroid hormone level, Genu valgum, Fibular bowing, Hypophospha... OMIM:307800
Boomerang Dysplasia
Decreased response to growth hormone stimulation test, Abnormal femur morphology, Abnormal tibia ... ORPHA:1263
Hypophosphatemic Rickets With Hypercalciuria, Hereditary
Rickets, Hypophosphatemic rickets, Fibular bowing, Enlargement of the wrists, Delayed epiphyseal ... OMIM:241530
Birdshot Chorioretinopathy
Abnormal chorioretinal morphology, Retinal thinning, Choroidal neovascularization, Vitritis, Cyst... ORPHA:179
Pseudohypoparathyroidism, Type Ib
Hypocalcemia, Hyperphosphatemia OMIM:603233
Andersen Cardiodysrhythmic Periodic Paralysis
Short mandibular rami, Clinodactyly of the 5th toe, Clinodactyly of the 5th finger, Short metatar... OMIM:170390
Melorheostosis
Increased bone mineral density, Arthritis, Hyperostosis, Joint stiffness, Ectopic ossification in... ORPHA:2485
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome
Abnormal bone ossification, Platyspondyly, Abnormal femoral neck/head morphology, Abnormality of ... ORPHA:163649
C Syndrome
Radial deviation of finger, Patent ductus arteriosus, Dislocated radial head, Scoliosis, Postaxia... OMIM:211750
Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive
Beaking of vertebral bodies, Large tarsal bones, Flared metaphysis, Short long bone, Aplasia/Hypo... OMIM:215150
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Subperiosteal bone resorption, Rickets, Elevated circulating parathyroid hormone level, Fibular b... OMIM:264700
Brachydactyly, Type E1
Type E brachydactyly, Short metatarsal, Short clavicles, Short metacarpal, Brachydactyly OMIM:113300
Achondrogenesis Type 2
Abnormal bone ossification, Delayed pubic bone ossification, Short long bone, Short ribs, Hypopla... ORPHA:93296
Van Maldergem Syndrome 1
Osteopenia, Short 4th metacarpal, Abnormal foot morphology, Sacral dimple, Tracheomalacia, Short ... OMIM:601390
Spondyloepiphyseal Dysplasia Congenita
Limited elbow movement, Spinal rigidity, Reduced bone mineral density, Short long bone, Flat acet... ORPHA:94068
Epiphyseal Dysplasia, Multiple, With Early-Onset Diabetes Mellitus
Ivory epiphyses of the toes, Cone-shaped epiphyses of the phalanges of the hand, Hyperlordosis, T... OMIM:226980
Vitamin D-Dependent Rickets, Type 2A
Subperiosteal bone resorption, Rickets, Elevated circulating parathyroid hormone level, Fibular b... OMIM:277440
Ruvalcaba Syndrome
Delayed puberty, Clinodactyly of the 5th finger, Proximal placement of thumb, Abnormal vertebral ... ORPHA:3121
Trichodentoosseous Syndrome
Increased bone mineral density OMIM:190320
Caffey Disease
Subperiosteal bone formation, Calvarial hyperostosis, Tibial bowing, Periosteal thickening of lon... OMIM:114000
Grant Syndrome
Abnormal cortical bone morphology, Abnormal pelvic girdle bone morphology, Bowing of the long bon... ORPHA:2097
Lethal Short-Limb Skeletal Dysplasia, Al Gazali Type
Wide anterior fontanel, Bilateral talipes equinovarus, Mesomelia, Limb undergrowth, Shortening of... OMIM:601356
Van Maldergem Syndrome 2
Osteopenia, Short 4th metacarpal, Hip subluxation, Sacral dimple, Tracheomalacia, Short clavicles... OMIM:615546
Weaver Syndrome
Radial deviation of finger, Hypoplastic iliac wing, Short ribs, Prominent fingertip pads, Limited... OMIM:277590
Body Mass Index Quantitative Trait Locus 20
Increased bone mineral density OMIM:618406
Otopalatodigital Syndrome, Type I
Broad distal phalanx of finger, Sandal gap, Dislocated radial head, Femoral bowing, Lateral femor... OMIM:311300
Gorham-Stout Disease
Osteopenia, Abnormal bone ossification, Abnormal femur morphology, Osteolysis involving bones of ... ORPHA:73
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss
Hypocalcemia, Elevated circulating gamma-aminobutyric acid concentration OMIM:619658
Odontotrichoungual-Digital-Palmar Syndrome
Short first metatarsal, Single transverse palmar crease, Short distal phalanx of toe, Brachydacty... OMIM:601957
Spondyloepiphyseal Dysplasia, Maroteaux Type
Kyphoscoliosis, Genu valgum, Generalized osteoporosis, Short palm, Atlantoaxial instability, Shor... OMIM:184095
Autosomal Recessive Axonal Neuropathy With Neuromyotonia
Pes cavus, Distal lower limb muscle weakness, Abnormal foot morphology, Split hand, Weakness of t... ORPHA:324442
Osteoarthritis With Mild Chondrodysplasia
Beaking of vertebral bodies, Hip osteoarthritis, Knee osteoarthritis, Heberden's node, Joint stif... OMIM:604864
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis
Kyphoscoliosis, Genu valgum, Small epiphyses, Joint hypermobility, Scoliosis, Short long bone, Kn... OMIM:618363
Zechi-Ceide Syndrome
Short distal phalanx of finger, Long foot, Short metatarsal, Sandal gap OMIM:612916
Kniest Dysplasia
Rhizomelia, Flared metaphysis, Splayed epiphyses, Delayed epiphyseal ossification, Abnormal carti... OMIM:156550
Autosomal Recessive Hypophosphatemic Rickets
Pseudo-fractures, Hypophosphatemic rickets, Sclerotic vertebral endplates, Rickets of the lower l... ORPHA:289176
Lethal Recessive Chondrodysplasia
Short long bone, Flared elbow metaphyses, Micromelia, Micrognathia, Limb undergrowth, Generalized... ORPHA:1423
Otopalatodigital Syndrome, Type Ii
Rocker bottom foot, Kyphoscoliosis, Spondylolysis, Femoral bowing, Short ribs, Tibial bowing, Sho... OMIM:304120
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Narrow greater sciatic notch, Limited elbow movement, Enlarged metaphyses, Short metacarpal, Kyph... ORPHA:508533
Rhizomelic Dysplasia, Ain-Naz Type
Rhizomelia, Wide distal femoral metaphysis, Limitation of joint mobility, Hypoplasia of the femor... OMIM:619598
Multicentric Osteolysis, Nodulosis, And Arthropathy
Kyphoscoliosis, Ankylosis of feet small joints, Thin metacarpal cortices, Wrist flexion contractu... OMIM:259600
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type
Abnormal bone ossification, Reduced bone mineral density, Biconvex vertebral bodies, Hypoplastic ... ORPHA:93315
Fibrodysplasia Ossificans Progressiva
Abnormality of the first metatarsal bone, Clinodactyly of the 5th finger, Short hallux, Ectopic o... OMIM:135100
Hand-Foot-Genital Syndrome
Sacral dimple, Clinodactyly of the 5th finger, Proximal placement of thumb, Short first metatarsa... ORPHA:2438
Hypocalcemia, Autosomal Dominant 1
Hypokalemia, Hypocalcemia, Increased circulating renin level, Hypomagnesemia, Hyperphosphatemia OMIM:601198
Axial Spondylometaphyseal Dysplasia
Narrow greater sciatic notch, Hypoplastic iliac wing, Delayed ossification of carpal bones, Short... ORPHA:168549
Short Stature-Brachydactyly-Obesity-Global Developmental Delay Syndrome
Patellar hypoplasia, Abnormality of the endocrine system, Short fourth metatarsal, Pseudohypopara... ORPHA:464288
Chondrodysplasia-Difference Of Sex Development Syndrome
Abnormal shoulder morphology, Short metacarpal, Abnormal pelvic girdle bone morphology, Micromeli... ORPHA:1422
Melnick-Needles Syndrome
Abnormal metaphysis morphology, Osteolytic defects of the phalanges of the hand, Abnormal cortica... ORPHA:2484
Dentinogenesis Imperfecta-Short Stature-Hearing Loss-Intellectual Disability Syndrome
Platyspondyly, Cone-shaped epiphysis, Osteoporosis ORPHA:71267
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations
Bilateral single transverse palmar creases, Kyphoscoliosis, Multiple carpal ossification centers,... OMIM:143095
Acromesomelic Dysplasia, Grebe Type
Fibular hypoplasia, Tarsal synostosis, Aplasia/Hypoplasia of the thumb, Postaxial hand polydactyl... ORPHA:2098
Osteogenesis Imperfecta, Type Ix
Scoliosis, Kyphosis, Decreased calvarial ossification, Multiple prenatal fractures, Short lower l... OMIM:259440
Osteopetrosis, Autosomal Recessive 4
Optic atrophy, Osteopetrosis, Increased bone mineral density, Recurrent fractures, Optic disc pallor OMIM:611490
Metaphyseal Dysostosis-Intellectual Disability-Conductive Deafness Syndrome
Equinovarus deformity, Aplasia/Hypoplasia of metatarsal bones, Flared metaphysis, Narrow iliac wi... ORPHA:2502
Hall-Riggs Syndrome
Scoliosis, Osteoporosis, Kyphosis, Metaphyseal dysplasia, Brachydactyly, Irregular vertebral endp... OMIM:234250
Fibrous Dysplasia Of Bone
Abnormal femur morphology, Precocious puberty in females, Abnormality of the endocrine system, Ov... ORPHA:249
Sillence Syndrome
Large iliac wing, Flat acetabular roof, Broad metatarsal, Broad thumb, Abnormal morphology of the... ORPHA:3168
Bruck Syndrome
Scoliosis, Bowing of the long bones, Osteoporosis, Kyphosis, Joint stiffness, Platyspondyly, Arth... ORPHA:2771
Verloove Vanhorick-Brubakk Syndrome
Tarsal synostosis, Abnormal femur morphology, Abnormal metacarpal morphology, Abnormal form of th... ORPHA:3429
Osteopetrosis, Autosomal Dominant 2
Osteopetrosis, Hip osteoarthritis, Recurrent fractures, Fractures of the long bones, Generalized ... OMIM:166600
Paget Disease Of Bone 5, Juvenile-Onset
Osteopenia, Angioid streaks of the fundus, Hydroxyprolinemia, Hyperuricemia, Increased bone miner... OMIM:239000
Cri-Du-Chat Syndrome
Short metatarsal, Single transverse palmar crease, Scoliosis, High axial triradius, Short metacar... OMIM:123450
Osteogenesis Imperfecta, Type Xxi
Platyspondyly, Scoliosis, Osteoporosis, Coxa vara, Coxa valga, Joint hypermobility, Pes planus, B... OMIM:619131
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy
Narrow greater sciatic notch, Short finger, Rhizomelia, Flared metaphysis, Metaphyseal cupping, S... OMIM:608940
Anauxetic Dysplasia 1
Limited elbow extension, Short finger, Rhizomelia, Platyspondyly, Small epiphyses, Flared metaphy... OMIM:607095
Pelger-Huet Anomaly
Polydactyly, Short 4th metacarpal, Pes cavus, Giant platelets, Upper limb undergrowth, Kyphosis, ... OMIM:169400
Multiple Endocrine Neoplasia Type 2
Kyphoscoliosis, Elevated circulating parathyroid hormone level, Pheochromocytoma, Thyroid C cell ... ORPHA:653
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome
Narrow greater sciatic notch, Rhizomelia, Platyspondyly, Flared metaphysis, Scoliosis, Short long... ORPHA:85167
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type
Narrow greater sciatic notch, Limited elbow extension, Irregular epiphyses, Dysplastic iliac wing... OMIM:608728
Leukodystrophy, Hypomyelinating, 26, With Chondrodysplasia
Small epiphyses, Joint hypermobility, Scoliosis, Short long bone, Lumbar scoliosis, Knee dislocat... OMIM:620269
Rubinstein-Taybi Syndrome 2
Short 5th toe, Short first metatarsal, Prominent fingertip pads, Broad thumb, Micrognathia, Broad... OMIM:613684
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia
Rhizomelia, 11 pairs of ribs, Metaphyseal cupping, Hypoplastic iliac wing, Hypoplasia of the calc... OMIM:300863
Chromosome 2Q37 Deletion Syndrome
Type E brachydactyly, Short metacarpal, Short fourth metatarsal, Hypothyroidism, Short phalanx of... OMIM:600430
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Delayed puberty, Rocker bottom foot, Abnormal ovarian morphology, Proximal tibial and fibular fus... ORPHA:95699
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1
Osteopenia, Clinodactyly of the 5th finger, 11 pairs of ribs, Sandal gap, Spina bifida occulta, S... OMIM:617877
Second Metatarsal-Metacarpal Syndrome
Synostosis of carpals/tarsals, Platyspondyly, Abnormal metacarpal morphology OMIM:269630
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Abnormal metaphysis morphology, Rhizomelia, Proximal placement of thumb, Platyspondyly, Bowing of... ORPHA:93267
Codas Syndrome
Abnormal form of the vertebral bodies, Scoliosis, Abnormal pelvic girdle bone morphology, Short m... ORPHA:1458
Shashi-Pena Syndrome
Deep palmar crease, Cervical C2/C3 vertebral fusion, Scoliosis, Short metacarpal, Osteoporosis, K... OMIM:617190
Geroderma Osteodysplastica
Beaking of vertebral bodies, Abnormal bone ossification, Talipes, Platyspondyly, Vertebral compre... ORPHA:2078
Kniest Dysplasia
Enlarged metaphyses, Short long bone, Dumbbell-shaped long bone, Joint stiffness, Dumbbell-shaped... ORPHA:485
Zollinger-Ellison Syndrome
Glucagonoma, Elevated circulating parathyroid hormone level, Neuroendocrine neoplasm, Adrenocorti... ORPHA:913
Alpha-Heavy Chain Disease
Hypocalcemia ORPHA:100025
Brachydactyly, Type B1
Hypoplastic sacrum, Aplasia/Hypoplasia of the distal phalanges of the hand, Wide anterior fontane... OMIM:113000
Hypophosphatemic Bone Disease
Rickets, Osteomalacia, Bowing of the legs OMIM:146350
Cantu Syndrome
Platyspondyly, Short hallux, Cuboid-shaped vertebral bodies, Osteoporosis, Short neck, Metaphysea... OMIM:239850
Lipodystrophy, Congenital Generalized, Type 3
Hypertriglyceridemia, Hypercholesterolemia, Hypocalcemia OMIM:612526
Mesomelia-Synostoses Syndrome
Narrow foot, Carpometacarpal synostosis, Abnormal vertebral morphology, Short metatarsal, Metacar... OMIM:600383
Kenny-Caffey Syndrome, Type 1
Hypocalcemia, Hypomagnesemia, Calvarial osteosclerosis, Decreased skull ossification OMIM:244460
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly
Clinodactyly of the 2nd finger, Cone-shaped epiphyses of the phalanges of the hand, Short ribs, C... OMIM:266920
Brachydactyly Type A1
Hypoplasia of the ulna, Clinodactyly of the 5th finger, Distal symphalangism of hands, Short hall... ORPHA:93388
Spondyloepimetaphyseal Dysplasia, Missouri Type
Limited elbow extension, Rhizomelia, Platyspondyly, Small epiphyses, Ulnar bowing, Metaphyseal cu... OMIM:602111
Retinitis Pigmentosa 70
Macular degeneration, Attenuation of retinal blood vessels, Retinal degeneration, Rod-cone dystro... OMIM:615922
Gm1-Gangliosidosis, Type Ii
Beaking of vertebral bodies, Sea-blue histiocytosis, Platyspondyly, Scoliosis, Joint stiffness, H... OMIM:230600
Spondyloepiphyseal Dysplasia, Kimberley Type
Platyspondyly, Genu valgum, Flat capital femoral epiphysis, Genu varum OMIM:608361
Dent Disease 1
Rickets, Fibular bowing, Enlargement of the wrists, Delayed epiphyseal ossification, Enlargement ... OMIM:300009
Martsolf Syndrome 1
Slender ulna, Short metacarpal, Broad femoral neck, Joint hypermobility, Osteopathia striata, Sho... OMIM:212720
Proteus Syndrome
Kyphoscoliosis, Calvarial hyperostosis, Mandibular hyperostosis, Spinal canal stenosis, Hypertrop... OMIM:176920
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type
Short long bone, Short ribs, Flat acetabular roof, Hypoplastic ischia, Dumbbell-shaped long bone,... OMIM:151210
Spondyloepiphyseal Dysplasia Tarda With Mental Retardation
Platyspondyly, Anterior beaking of lumbar vertebrae, Coxa valga, Short greater sciatic notch OMIM:271620
Osteogenesis Imperfecta, Type Xviii
Vertebral compression fracture, Femoral bowing, Bowing of the long bones, Generalized osteoporosi... OMIM:617952
Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive
Flattened metacarpal heads, Hip osteoarthritis, Flattened metatarsal heads, Osteoarthritis, Platy... OMIM:271600
Spondylometaphyseal Dysplasia, A4 Type
Limitation of joint mobility, Coxa vara, Micromelia, Short palm, Platyspondyly ORPHA:168555
Nephropathy-Deafness-Hyperparathyroidism Syndrome
Bone cyst, Hypercalcemia ORPHA:2668
Phocomelia-Ectrodactyly-Deafness-Sinus Arrhythmia Syndrome
Hypoplasia of the ulna, Abnormality of the wrist, Radial club hand, Ulnar bowing, Aplasia/Hypopla... ORPHA:2878
Acheiropody
Fibular aplasia, Aplasia of the ulna, Aplasia of the tarsal bones, Carpal bone aplasia, Absent to... OMIM:200500
Odontochondrodysplasia
Abnormal metaphysis morphology, Square pelvis bone, Platyspondyly, Scoliosis, Bowing of the long ... ORPHA:166272
Zechi-Ceide Syndrome
Short distal phalanx of finger, Long foot, Short metatarsal, Sandal gap ORPHA:217017
Synostoses, Tarsal, Carpal, And Digital
Tarsal synostosis, Short metacarpal, Carpal synostosis, Metacarpophalangeal synostosis, Aplasia/H... OMIM:186400
Brachyolmia Type 4 With Mild Epiphyseal And Metaphyseal Changes
Kyphoscoliosis, Premature pubarche, Lumbar scoliosis, Lower limb undergrowth, Brachydactyly, Irre... OMIM:612847
2P21 Microdeletion Syndrome
Hypocalcemia ORPHA:163693
Blomstrand Lethal Chondrodysplasia
Rhizomelia, Platyspondyly, Flared metaphysis, Metaphyseal cupping, Increased bone mineral density... ORPHA:50945
Hypocalcemic Vitamin D-Dependent Rickets
Rickets, Increased susceptibility to fractures, Elevated circulating parathyroid hormone level, E... ORPHA:289157
Schwartz-Jampel Syndrome, Type 1
Kyphoscoliosis, Flexion contracture of toe, Wrist flexion contracture, Anterior bowing of long bo... OMIM:255800
Autosomal Dominant Brachyolmia
Abnormal metaphysis morphology, Increased vertebral height, Platyspondyly, Kyphoscoliosis ORPHA:93304
Mucopolysaccharidosis, Type Iva
Genu valgum, Lumbar kyphosis, Anterior beaking of lumbar vertebrae, Platyspondyly, Scoliosis, Hyp... OMIM:253000
Pitt-Hopkins Syndrome
Narrow foot, Pes valgus, Sacral dimple, Single transverse palmar crease, Short fifth metatarsal, ... OMIM:610954
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Optic atrophy, Osteopetrosis, Diaphyseal sclerosis, Hypocalcemia, Increased skull ossification, C... OMIM:618476
Codas Syndrome
Generalized joint hypermobility, Genu valgum, Proximal placement of thumb, Delayed ossification o... OMIM:600373
Calvarial Doughnut Lesions With Bone Fragility
Osteopenia, Scoliosis, Femoral bowing, Osteoporosis, Platyspondyly, Recurrent fractures OMIM:126550
Osteogenesis Imperfecta, Type Xvi
Osteopenia, Rhizomelia, Platyspondyly, Vertebral compression fracture, Angulated humerus, Short l... OMIM:616229
Epiphyseal Dysplasia, Baumann Type
Genu valgum, Clinodactyly of the 5th finger, Carpal bone aplasia, Hypoplasia of the femoral head,... OMIM:610797
Microcephaly, Short Stature, And Limb Abnormalities
Hypoplasia of the radius, Clinodactyly of the 5th finger, 11 pairs of ribs, Patellar hypoplasia, ... OMIM:617604
Exudative Vitreoretinopathy 4
Osteopenia, Posterior vitreous detachment, Retinal exudate, Tractional retinal detachment, Exudat... OMIM:601813
Familial Exudative Vitreoretinopathy
Macular telangiectasia, Reduced bone mineral density, Macular exudate, Retinal neovascularization... ORPHA:891
Osteopetrosis, Autosomal Recessive 6
Osteopetrosis OMIM:611497
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome
Platyspondyly, Kyphosis, Osteoporosis ORPHA:2786
Bruck Syndrome 2
Osteopenia, Femoral bowing, Elbow flexion contracture, Flexion contracture, Knee flexion contract... OMIM:609220
Refractory Celiac Disease
Hypocalcemia, Hypoproteinemia, Osteoporosis, Hypomagnesemia, Hypophosphatemia, Hypoalbuminemia ORPHA:398063
Geleophysic Dysplasia 1
Osteopenia, Short long bone, Wrist flexion contracture, Short foot, Irregular capital femoral epi... OMIM:231050
Retinitis Pigmentosa 13
Bone spicule pigmentation of the retina, Asteroid hyalosis, Cystoid macular edema, Optic disc dru... OMIM:600059
Microcephalic Osteodysplastic Dysplasia, Saul-Wilson Type
Cone-shaped epiphyses of the phalanges of the hand, Irregularity of vertebral bodies, Short palm,... ORPHA:85172
Parathyroid Carcinoma
Hypercalcemia OMIM:608266
Urban-Rogers-Meyer Syndrome
Flexion contracture of toe, Clinodactyly of the 5th finger, Abnormal diaphysis morphology, Recurr... ORPHA:3409
Spondyloepimetaphyseal Dysplasia, Sponastrime Type
Kyphoscoliosis, Delayed ossification of carpal bones, Biconcave vertebral bodies, Mesomelia, Meta... OMIM:271510
Ulna And Fibula, Absence Of, With Severe Limb Deficiency
Aplasia/hypoplasia of the femur, Carpal bone aplasia, Aplasia/Hypoplasia of the phalanges of the ... OMIM:276820
Familial Isolated Hyperparathyroidism
Osteopenia, Generalized osteoporosis, Hypercalcemia, Hypophosphatemia ORPHA:99879
Dysosteosclerosis
Abnormal metaphysis morphology, Craniofacial hyperostosis, Increased bone mineral density, Hypopl... ORPHA:1782
Coffin-Lowry Syndrome
Broad finger, Abnormal diaphysis morphology, Craniofacial hyperostosis, Abnormal form of the vert... ORPHA:192
Symphalangism, Proximal, 1A
Tarsal synostosis, Distal symphalangism of hands, Proximal symphalangism of hands, Carpal synosto... OMIM:185800
Acrootoocular Syndrome
Kyphoscoliosis, Short finger, Decreased response to growth hormone stimulation test, Sandal gap, ... ORPHA:2980
Hydrocephalus-Obesity-Hypogonadism Syndrome
Short 4th metacarpal, Cubitus valgus, Abnormality of the hypothalamus-pituitary axis, Hypergonado... ORPHA:2183
Spondylometaphyseal Dysplasia, Axial
Narrow greater sciatic notch, Rhizomelia, Scoliosis, Coxa vara, Splenomegaly, Short femoral neck,... OMIM:602271
Kyphomelic Dysplasia
Ulnar bowing, Bowed humerus, Flared metaphysis, Dumbbell-shaped humerus, Tibial bowing, Femoral b... OMIM:211350
Frontometaphyseal Dysplasia 2
Delayed puberty, Finger clinodactyly, Fused cervical vertebrae, Short metatarsal, Flared metaphys... OMIM:617137
Angel-Shaped Phalango-Epiphyseal Dysplasia
Hip osteoarthritis, Joint hypermobility, Short middle phalanx of the 5th finger, Short middle pha... ORPHA:63442
Rothmund-Thomson Syndrome Type 1
Finger symphalangism, Abnormal ulnar metaphysis morphology, Aplastic anemia, Osteopenia, Anemia, ... ORPHA:221008
Schneckenbecken Dysplasia
Snail-like ilia, Short ribs, Flat acetabular roof, Short long bone, Dumbbell-shaped long bone, Bi... OMIM:269250
Opsismodysplasia
Rhizomelia, Metaphyseal cupping, Hypoplastic pubic bone, Scoliosis, Short long bone, Flat acetabu... OMIM:258480
Exudative Vitreoretinopathy 1
Posterior vitreous detachment, Retinal exudate, Retinal detachment, Vitreous floaters, Ectopic fo... OMIM:133780
Spondylometaphyseal Dysplasia, Schmidt Type
Narrow greater sciatic notch, Short iliac bones, Abnormal metaphysis morphology, Abnormality of t... ORPHA:93316
X-Linked Hypophosphatemia
Reduced bone mineral density, Flared iliac wing, Abnormal epiphysis morphology, Craniosynostosis,... ORPHA:89936
Dyggve-Melchior-Clausen Disease
Abnormal hip bone morphology, Abnormal femoral head morphology, Short long bone, Limited knee ext... ORPHA:239
Dermatosparaxis Ehlers-Danlos Syndrome
Rickets, Osteopenia, Scoliosis, Osteoporosis, Coxa vara, Joint stiffness, Micrognathia, Hip dyspl... ORPHA:1901
Spondyloepimetaphyseal Dysplasia, Guo-Campeau Type
Proximal placement of thumb, Clinodactyly of the 2nd finger, Dislocated radial head, Absent toe, ... OMIM:620663
Florid Cemento-Osseous Dysplasia
Multiple bony cystic lesions, Abnormal bone structure, Abnormal trabecular bone morphology, Mandi... ORPHA:83451
Atelosteogenesis Type I
Abnormal fibula morphology, Absent or minimally ossified vertebral bodies, Rhizomelia, Abnormal p... ORPHA:1190
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome
Pes planus, Abnormality of the endocrine system, Short metacarpal, Micrognathia, Brachydactyly, M... ORPHA:166035
Rothmund-Thomson Syndrome Type 2
Aplastic anemia, Aplasia/hypoplasia involving bones of the upper limbs, Short metacarpal, Patholo... ORPHA:221016
Spondyloepiphyseal Dysplasia Tarda, X-Linked
Irregular epiphyses, Hip osteoarthritis, Hypoplastic iliac wing, Scoliosis, Limitation of joint m... OMIM:313400
2Q37 Microdeletion Syndrome
Bilateral single transverse palmar creases, Clinodactyly of the 5th finger, Tracheomalacia, Finge... ORPHA:1001
Otospondylomegaepiphyseal Dysplasia, Autosomal Dominant
Epiphyseal dysplasia, Platyspondyly, Enlarged epiphyses, Premature osteoarthritis OMIM:184840
Bent Bone Dysplasia Syndrome 2
Osteopenia, Butterfly vertebrae, Ulnar bowing, Bowed humerus, Hypoplastic iliac wing, Hypoplastic... OMIM:620076
Mucopolysaccharidosis, Type Ivb
Genu valgum, Platyspondyly, Scoliosis, Hyperlordosis, Osteoporosis, Bilateral talipes equinovarus... OMIM:253010
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures, Patchy osteosclerosis OMIM:241410
Spondyloepiphyseal Dysplasia, Kimberley Type
Abnormal epiphysis morphology, Platyspondyly, Osteoarthritis, Micromelia ORPHA:93283
Infantile Systemic Hyalinosis
Osteopenia, Abnormality of the adrenal glands, Osteomalacia, Osteoporosis, Micromelia, Joint stif... ORPHA:2176
Femoral-Facial Syndrome
Limited elbow movement, Aplasia/hypoplasia of the femur, Short humerus, Syndactyly, Absent verteb... OMIM:134780
Developmental And Epileptic Encephalopathy 95
Short 4th metacarpal, Clinodactyly of the 5th finger, Multiple joint contractures, Single transve... OMIM:618143
Osteogenesis Imperfecta, Type Xiii
Kyphoscoliosis, Reduced bone mineral density, Limitation of knee mobility, Wide distal femoral me... OMIM:614856
Ventricular Extrasystoles With Syncopal Episodes-Perodactyly-Robin Sequence Syndrome
Short 4th metacarpal, Tapered finger, Camptodactyly of finger, Aplasia/Hypoplasia of the distal p... ORPHA:3201
Moebius Syndrome
Radial deviation of finger, Split hand, Abnormal pelvic girdle bone morphology, Camptodactyly, Ar... OMIM:157900
Spondylocarpotarsal Synostosis Syndrome
Hyperlordosis, Short metacarpal, Tarsal synostosis, Bowed humerus, Scoliosis, Block vertebrae, Ca... OMIM:272460
Dysosteosclerosis
Short ribs, Broad femoral neck, Hypoplastic vertebral bodies, Absent paranasal sinuses, Clavicula... OMIM:224300
Abnormal Hair, Joint Laxity, And Developmental Delay
Clinodactyly of the 5th toe, Short fifth metatarsal, 2-3 toe syndactyly, Increased carrying angle... OMIM:261990
Bardet-Biedl Syndrome 17
Polydactyly, Mesoaxial polydactyly, Postaxial hand polydactyly, Short fourth metatarsal, Hypogona... OMIM:615994
Spondylocamptodactyly Syndrome
Platyspondyly, Camptodactyly of finger, Scoliosis ORPHA:3180
Ghosal Hematodiaphyseal Dysplasia
Increased bone mineral density, Hyperostosis cranialis interna, Myelofibrosis OMIM:231095
Pachydermoperiostosis
Palmoplantar keratoderma, Osteolysis, Anemia, Abnormal cortical bone morphology, Arthritis, Scoli... ORPHA:2796
Osteogenesis Imperfecta, Type X
Osteopenia, Genu valgum, Fibular bowing, Rhizomelia, Vertebral compression fracture, Platyspondyl... OMIM:613848
Hereditary Hypophosphatemic Rickets With Hypercalciuria
Increased circulating osteocalcin level, Reduced bone mineral density, Hypophosphatemic rickets, ... ORPHA:157215
Hypophosphatasia, Adult
Rickets, Abnormal foot morphology, Pathologic fracture, Osteomalacia, Recurrent fractures, Increa... OMIM:146300
Mucopolysaccharidosis Type 4
Abnormal metaphysis morphology, Genu valgum, Reduced bone mineral density, Platyspondyly, Scolios... ORPHA:582
Achondroplasia
Narrow greater sciatic notch, Limited elbow extension, Short proximal phalanx of finger, Cervical... ORPHA:15
Robin Sequence With Cleft Mandible And Limb Anomalies
Mesomelic arm shortening, Proximal placement of thumb, Short metacarpal, Short 5th finger, 4-5 me... OMIM:268305
Cantú Syndrome
Abnormal metaphysis morphology, Deep plantar creases, Platyspondyly, Short hallux, Finger syndact... ORPHA:1517
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities
Narrow greater sciatic notch, Kyphoscoliosis, Platyspondyly, Dislocated radial head, Single trans... OMIM:617425
Tibial Hemimelia
Aplasia of the 4th metacarpal, Proximal tibial and fibular fusion, Oligodactyly, Increased laxity... ORPHA:93322
Spondyloepiphyseal Dysplasia Congenita
Limited elbow movement, Delayed pubic bone ossification, Limitation of knee mobility, Delayed cal... OMIM:183900
Paget Disease Of Bone 3
Fractures of the long bones, Osteolysis, Patchy osteosclerosis OMIM:167250
Osteogenesis Imperfecta, Type Xvii
Kyphoscoliosis, Reduced bone mineral density, Platyspondyly, Thin metacarpal cortices, Vertebral ... OMIM:616507
Avascular Necrosis Of Femoral Head, Primary, 2
Platyspondyly, Avascular necrosis of the capital femoral epiphysis OMIM:617383
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2
Osteopenia, Increased susceptibility to fractures, Kyphoscoliosis, Platyspondyly, Talipes equinov... OMIM:615349
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3
Sacral dimple, Short long bone, Vertebral segmentation defect, Patent ductus arteriosus, Talipes ... OMIM:618845
Autosomal Recessive Stickler Syndrome
Genu valgum, Platyspondyly, Epiphyseal dysplasia, Micrognathia, Irregular vertebral endplates, Ab... ORPHA:250984
Variegate Porphyria, Childhood-Onset
Short finger, Short metacarpal OMIM:620483
Exudative Vitreoretinopathy 2, X-Linked
Retinal detachment, Retinal fold, Intraretinal exudate, Peripheral vitreous opacities, Exudative ... OMIM:305390
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type
Wide distal femoral metaphysis, Delayed epiphyseal ossification, Metaphyseal cupping, Short long ... OMIM:613320
Metaphyseal Dysostosis, Impaired Intellectual Development, And Conductive Deafness
Short long bone, Short ribs, Metaphyseal irregularity, Joint hypermobility, Genu varum, Metaphyse... OMIM:250420
Osteogenesis Imperfecta, Type Ii
Absent ossification of calvaria, Crumpled long bones, Tibial bowing, Abnormal pelvic girdle bone ... OMIM:166210
Oncogenic Osteomalacia
Hypocalcemia, Hypophosphatemia, Pathologic fracture, Fibrous dysplasia of the bones, Increased su... ORPHA:352540
Stüve-Wiedemann Syndrome
Absent patellar reflexes, Flexion contracture of finger, Sacral dimple, Scoliosis, Elbow flexion ... ORPHA:3206
Pseudodiastrophic Dysplasia
Rhizomelia, Scoliosis, Platyspondyly, Phalangeal dislocation, Elbow dislocation, Talipes equinovarus ORPHA:85174
Acrofacial Dysostosis, Palagonia Type
Short 4th metacarpal, Spina bifida occulta, Abnormal form of the vertebral bodies, Finger syndact... ORPHA:1787
Reese Retinal Dysplasia
Remnants of the hyaloid vascular system, Retinal dysplasia OMIM:266400
Chromosome 17P13.3, Telomeric, Duplication Syndrome
Finger symphalangism, Contracture of the proximal interphalangeal joint of the 4th finger, Absent... OMIM:612576
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies
Osteopenia, Craniosynostosis, Hypercalcemia OMIM:614732