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Gene: Pth MGI:97799

Gene Summary

Name:

parathyroid hormone

Synonyms:

N/A

Order Alleles

IMPC Data Collections

Body Weight Measurements
No Embryo Imaging Data
Viability Data

IMPC Phenotype Summary

Significant

Not Significant

Not tested

View all our phenotype data below

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	Allele	Zyg	Life Stage	P Value
abnormal retina morphology	Pth^{tm1a(EUCOMM)Wtsi}	HOM	Early adult	7.97×10^-05
decreased circulating calcium level	Pth^{tm1a(EUCOMM)Wtsi}	HOM	Early adult	5.72×10^-06
increased bone mineral density	Pth^{tm1a(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 Whole Body Lateral Orientation

14 Images

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X-ray

XRay Images Forepaw

14 Images

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X-ray

XRay Images Skull Lateral Orientation

14 Images

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Anti-nuclear antibody assay

Images

6 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

14 Images

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X-ray

XRay Images Whole Body Dorso Ventral

14 Images

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Legacy Phenotype Associated Images

Pth^{tm1a(EUCOMM)Wtsi}
HOM, Female, WTSI

Pth^{tm1a(EUCOMM)Wtsi}
HOM, Male, WTSI

Pth^{tm1a(EUCOMM)Wtsi}
HOM, Female, WTSI

View all 70 images

Pth^{tm1a(EUCOMM)Wtsi}
abnormal retinal pigmentation, HOM, Male, WTSI

Pth^{tm1a(EUCOMM)Wtsi}
right eye, HOM, Female, WTSI

Pth^{tm1a(EUCOMM)Wtsi}
abnormal retinal pigmentation, HOM, Male, WTSI

Pth^{tm1a(EUCOMM)Wtsi}
abnormal retinal pigmentation, HOM, Female, WTSI

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.

Human diseases associated with Pth (1 diseases)
Human diseases predicted to be associated with Pth (869 diseases)

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		Hypocalcemic seizures, Hyperphosphatemia, Hypocalcemia	OMIM:146200

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

Disease	Matching phenotypes	Source
Retinal Dysplasia, Primary	Retinal dysplasia, Falciform retinal fold	OMIM:312550
Epiphyseal Dysplasia, Multiple, 1	Delayed epiphyseal ossification, Hip osteoarthritis, Epiphyseal dysplasia, Broad femoral neck, Ir...	OMIM:132400
Pseudoachondroplasia	Delayed epiphyseal ossification, Hypoplasia of the odontoid process, Genu valgum, Wind-swept defo...	ORPHA:750
Spondyloepimetaphyseal Dysplasia, Irapa Type	Platyspondyly, Synostosis of carpal bones, Limitation of joint mobility, Abnormal epiphysis morph...	ORPHA:93351
Osteochondrosis Of The Metatarsal Bone	Abnormality of the fifth metatarsal bone, Abnormal metatarsal epiphysis morphology, Abnormality o...	ORPHA:564003
Eiken Syndrome	Delayed epiphyseal ossification, Abnormal fingertip morphology, Epiphyseal dysplasia, Limited elb...	ORPHA:79106
Pseudopseudohypoparathyroidism	Short 5th finger, Ectopic ossification, Short distal phalanx of the thumb, Short 5th metacarpal, ...	ORPHA:79445
Spondyloperipheral Dysplasia-Short Ulna Syndrome	Aplasia/hypoplasia involving bones of the extremities, Platyspondyly, Arthralgia of the hip, Broa...	ORPHA:1856
Brachydactyly Type C	Ulnar deviation of finger, Cone-shaped epiphysis, Stippling of the epiphysis of the distal phalan...	ORPHA:93384
Spondylometaphyseal Dysplasia, Kozlowski Type	Delayed epiphyseal ossification, Abnormal ilium morphology, Hypoplasia of the odontoid process, R...	ORPHA:93314
Epiphyseal Dysplasia, Multiple, 5	Epiphyseal dysplasia, Metaphyseal irregularity, Arthralgia of the hip, Broad femoral neck, Hypopl...	OMIM:607078
Brachydactyly, Type A1	Short distal phalanx of finger, Proportionate shortening of all digits, Distal symphalangism of h...	OMIM:112500
Hypoparathyroidism, Familial Isolated, 2	Hypocalcemic seizures, Hyperphosphatemia, Hypocalcemia	OMIM:618883
Metaphyseal Dysplasia Without Hypotrichosis	Abnormal pelvic girdle bone morphology, Metaphyseal cupping of metacarpals, 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	Craniofacial hyperostosis, Abnormal pelvic girdle bone morphology, Abnormal form of the vertebral...	ORPHA:1802
Epiphyseal Dysplasia, Multiple, 3	Delayed epiphyseal ossification, Epiphyseal dysplasia, Irregular epiphyses, Abnormal hip joint mo...	OMIM:600969
Spondyloepimetaphyseal Dysplasia, Irapa Type	Platyspondyly, Capitate-hamate fusion, Broad femoral neck, Hypoplastic sacrum, Upper limb undergr...	OMIM:271650
Hypocalcemia, Autosomal Dominant 2	Abnormal blood phosphate concentration, Hypocalcemia	OMIM:615361
Skeletal Dysplasia With Delayed Epiphyseal And Carpal Bone Ossification	Delayed epiphyseal ossification, Broad middle phalanx of finger, Cone-shaped epiphysis, Short 1st...	OMIM:182255
Multiple Epiphyseal Dysplasia Type 4	Limitation of joint mobility, Radial bowing, Hypoplastic cervical vertebrae, Premature osteoarthr...	ORPHA:93307
Chondrodysplasia Punctata, Tibia-Metacarpal Type	Short 3rd metacarpal, Short tibia, Micromelia, Epiphyseal stippling, Short 4th metacarpal, Limb u...	OMIM:118651
Hypophosphatemic Rickets, Autosomal Recessive, 1	Rickets, Hypophosphatemic rickets, Hypophosphatemia, Craniosynostosis, Increased bone mineral den...	OMIM:241520
Desbuquois Dysplasia 1	Radial deviation of the 2nd finger, Broad first metatarsal, Talipes equinovarus, Short neck, Pes ...	OMIM:251450
Pyknoachondrogenesis	Increased bone mineral density	OMIM:265880
Pseudopseudohypoparathyroidism	Pseudohypoparathyroidism, Short neck, Brachydactyly, Osteoporosis, Short metatarsal, Short metaca...	OMIM:612463
Pseudoachondroplasia	Delayed epiphyseal ossification, Atlantoaxial dislocation, Hypoplasia of the odontoid process, Ra...	OMIM:177170
Talo-Patello-Scaphoid Osteolysis	Osteolysis of talus, Osteolysis of scaphoids, Osteolysis of patellae, Synovitis, Short 4th metaca...	ORPHA:50809
Osteomesopyknosis	Increased bone mineral density	OMIM:166450
Epiphyseal Dysplasia, Multiple, 4	Epiphyseal dysplasia, Limited elbow flexion, Hypoplasia of the femoral head, Talipes equinovarus,...	OMIM:226900
Hypomagnesemia 1, Intestinal	Hypocalcemia, Hypomagnesemia	OMIM:602014
Brachydactyly-Preaxial Hallux Varus Syndrome	Broad thumb, Preaxial hand polydactyly, Radial club hand, Micrognathia, Brachydactyly, Short meta...	ORPHA:1278
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)	Hypocalcemia	DECIPHER:16
Spondyloperipheral Dysplasia	Broad thumb, Absent styloid process of ulna, Short neck, Flat acetabular roof, Short distal phala...	OMIM:271700
Wahab Syndrome	Short thumb, Clinodactyly, Camptodactyly, Adducted thumb, Ankylosis, Short foot, Short metacarpal...	OMIM:615170
Metaphyseal Dysplasia With Maxillary Hypoplasia With Or Without Brachydactyly	Platyspondyly, Multiple small vertebral fractures, Flared metaphysis, Short 5th metacarpal, Short...	OMIM:156510
Ruvalcaba Syndrome	Small hand, Kyphosis, Micromelia, Limited elbow extension, Cryptorchidism, Delayed puberty, Short...	OMIM:180870
Brachyolmia Type 1, Hobaek Type	Platyspondyly, Osteopenia, Short iliac bones, Flattened proximal radial epiphyses, Kyphosis, Squa...	OMIM:271530
Epiphyseal Dysplasia, Multiple, 7	Epiphyseal dysplasia, Platyspondyly, Vertebral wedging, Hypoplasia of the capital femoral epiphys...	OMIM:617719
Osteopoikilosis And Dacryocystitis	Osteopoikilosis	OMIM:166705
Trichorhinophalangeal Syndrome, Type Iii	Osteopenia, Cone-shaped epiphyses of the middle phalanges of the hand, Short finger, Avascular ne...	OMIM:190351
Spondyloepimetaphyseal Dysplasia, Di Rocco Type	Platyspondyly, Irregular acetabular roof, Metaphyseal dysplasia, Reduced bone mineral density, Ge...	OMIM:617974
Adamantinoma	Pathologic fracture, Hypercalcemia	ORPHA:55881
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome	Overlapping toe, Genu valgum, Carpal bone hypoplasia, Short neck, Pes planus, Thoracolumbar scoli...	ORPHA:457395
Chondrodysplasia With Joint Dislocations, Gpapp Type	Coronal craniosynostosis, Patellar dislocation, Short toe, Knee dislocation, Genu valgum, Limited...	OMIM:614078
Van Buchem Disease	Thickened cortex of long bones, Optic atrophy from cranial nerve compression, Increased bone mine...	OMIM:239100
Melorheostosis, Isolated	Increased bone mineral density, Hyperostosis	OMIM:155950
Odontochondrodysplasia 1	Flat acetabular roof, Cone-shaped epiphyses of the phalanges of the hand, Short metacarpal, Genu ...	OMIM:184260
Acrodysostosis	Cryptorchidism, Bowing of the long bones, Abnormal metacarpal morphology, Abnormal morphology of ...	ORPHA:950
Endosteal Hyperostosis, Worth Type	Sclerotic vertebral body, Craniofacial hyperostosis, Abnormal form of the vertebral bodies, Abnor...	ORPHA:2790
Stargardt Disease 1	Retinitis pigmentosa inversa, Macular degeneration, Bull's eye maculopathy	OMIM:248200
Brachydactyly Type E	Short distal phalanx of finger, Aplasia/Hypoplasia of the distal phalanx of the hallux, Type E br...	ORPHA:93387
Jackson-Weiss Syndrome	Coronal craniosynostosis, Broad hallux, Short first metatarsal, 2-3 toe syndactyly, Broad first m...	OMIM:123150
Osteomesopyknosis	Sclerotic vertebral body, Abnormal form of the vertebral bodies, Abnormal cortical bone morpholog...	ORPHA:2777
Rhizomelic Dysplasia, Patterson-Lowry Type	Platyspondyly, Rhizomelia, Deformed humeral heads, Short humerus, Brachydactyly, Coxa vara, Short...	OMIM:601438
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3	Osteopenia, Elevated circulating parathyroid hormone level, Metacarpal periosteal thickening, Cal...	OMIM:617994
Buschke-Ollendorff Syndrome	Joint stiffness, Flexion contracture, Osteopoikilosis	OMIM:166700
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor	Delayed epiphyseal ossification, Rickets, Bulging epiphyses, Elevated circulating parathyroid hor...	OMIM:600785
Dyggve-Melchior-Clausen Disease	Hypoplastic scapulae, Hypoplasia of the odontoid process, Limitation of joint mobility, Hypoplast...	OMIM:223800
Pseudohypoparathyroidism, Type Ia	Elevated circulating parathyroid hormone level, Short toe, Short finger, Hypogonadism, Pseudohypo...	OMIM:103580
Spondylometaphyseal Dysplasia, Type A4	Platyspondyly, Irregular patellae, Hypoplasia of the capital femoral epiphysis, Metaphyseal scler...	OMIM:609052
Acrodysostosis 2 With Or Without Hormone Resistance	Cone-shaped epiphysis, Spinal canal stenosis, Congenital hypothyroidism, Cryptorchidism, Brachyda...	OMIM:614613
Smith-Mccort Dysplasia 2	Platyspondyly, Hypoplasia of the odontoid process, Broad femoral neck, Genu valgum, Limited elbow...	OMIM:615222
Brachydactyly, Type C	Angel-shaped phalanx, Ulnar deviation of the 2nd finger, Triangular epiphysis of the proximal pha...	OMIM:113100
Ossification Of The Posterior Longitudinal Ligament Of Spine	Increased bone mineral density, Ectopic ossification	OMIM:602475
Weismann-Netter Syndrome	Aplasia/Hypoplasia of the radius, Abnormal form of the vertebral bodies, Abnormal tibia morpholog...	ORPHA:3344
Hoxha-Aliu Syndrome	Abnormal vertebral morphology, Overlapping toe, Absent fifth metatarsal, Broad foot, Patellar dis...	OMIM:620662
Metaphyseal Chondrodysplasia, Schmid Type	Abnormal vertebral morphology, Radial metaphyseal irregularity, Genu varum, Irregular vertebral e...	ORPHA:174
Osteosclerosis-Ichthyosis-Premature Ovarian Failure Syndrome	Increased bone mineral density	ORPHA:75325
Brachydactyly, Preaxial, With Hallux Varus And Thumb Abduction	Short distal phalanx of finger, Short thumb, Hallux varus, Short hallux, Hitchhiker thumb, Short ...	OMIM:112450
Brachydactyly-Syndactyly, Zhao Type	Short fifth metatarsal, Toe syndactyly, Short 5th metacarpal, Short middle phalanx of the 2nd fin...	ORPHA:93409
Spondylometaphyseal Dysplasia, Pagnamenta Type	Platyspondyly, Rhizomelia, Broad thumb, Short 5th metacarpal, Femoral bowing, Short 4th metacarpa...	OMIM:619638
Gnathodiaphyseal Dysplasia	Osteopenia, Mandibular osteomyelitis, Bowing of the long bones, Thickened cortex of long bones, S...	ORPHA:53697
Acromesomelic Dysplasia 1	Radial bowing, Long hallux, Beaking of vertebral bodies, Broad phalanx, Cone-shaped epiphyses of ...	OMIM:602875
Hereditary Sensory And Autonomic Neuropathy Type 2	Foot acroosteolysis, Abnormality of the ankle, Abnormal epiphysis morphology, Abnormal hip bone m...	ORPHA:970
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3	Platyspondyly, Osteopenia, Joint contracture of the hand, Broad femoral neck, Flared metaphysis, ...	OMIM:612350
Melorheostosis With Osteopoikilosis	Osteopoikilosis, Abnormal cortical bone morphology, Complete duplication of the distal phalanges ...	ORPHA:1879
Brachydactylous Dwarfism, Mseleni Type	Platyspondyly, Osteopenia, Hip osteoarthritis, Abnormality of the ankle, Osteoarthritis of the el...	ORPHA:2619
Acromicric Dysplasia	Cone-shaped epiphysis, Fifth metacarpal with ulnar notch, Ovoid vertebral bodies, Short long bone...	OMIM:102370
Pseudohypoparathyroidism, Type Ii	Hyperphosphatemia, Hypocalcemia	OMIM:203330
Dacryocystitis-Osteopoikilosis Syndrome	Increased bone mineral density, Osteopoikilosis	ORPHA:1562
Hypophosphatemic Rickets And Hyperparathyroidism	Hyperparathyroidism, Rickets, Elevated circulating parathyroid hormone level, Hypophosphatemic ri...	OMIM:612089
Hyperostosis Corticalis Generalisata	Generalized osteosclerosis, Abnormal cortical bone morphology, Cranial hyperostosis, Diaphyseal u...	ORPHA:3416
Pyle Disease	Platyspondyly, Absent paranasal sinuses, Genu valgum, Limited elbow extension, Cubitus valgus, Th...	OMIM:265900
Dentin Dysplasia	Increased bone mineral density	ORPHA:1653
Smith-Mccort Dysplasia 1	Platyspondyly, Hypoplastic scapulae, Hypoplastic acetabulae, Limitation of joint mobility, Hypopl...	OMIM:607326
Brachydactyly Type A2	Aplasia/Hypoplasia of the middle phalanx of the 2nd finger, Short middle phalanx of finger, Type ...	ORPHA:93396
Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type	Platyspondyly, Osteopenia, Proximal femoral epiphysiolysis, Short fourth metatarsal, Overlapping ...	OMIM:616723
Pseudohypoparathyroidism, Type Ic	Elevated circulating parathyroid hormone level, Elevated circulating thyroid-stimulating hormone ...	OMIM:612462
Otospondylomegaepiphyseal Dysplasia	Epiphyseal dysplasia, Abnormal vertebral morphology, Limitation of joint mobility, Fibular bowing...	ORPHA:1427
Sclerosteosis	Craniofacial hyperostosis, Finger syndactyly, Curved distal phalanges of the hand, Abnormal corti...	ORPHA:3152
Chromosome 8Q22.1 Duplication Syndrome	Genu recurvatum, Broad thumb, Limitation of joint mobility, Interphalangeal joint contracture of ...	OMIM:151200
Vitamin D-Dependent Rickets, Type 3	Osteopenia, Hypophosphatemia, Hypocalcemia	OMIM:619073
Roifman-Chitayat Syndrome	Osteopenia, Cone-shaped epiphysis, Short neck, Arthritis, Short metatarsal, Short metacarpal	OMIM:613328
Acromicric Dysplasia	Small hand, Fifth metacarpal with ulnar notch, Abnormal epiphysis morphology, Joint stiffness, Ab...	ORPHA:969
Brachydactyly, Type A1, B	Short distal phalanx of finger, Radial deviation of finger, Clinodactyly, Type A brachydactyly, S...	OMIM:607004
Angioosteohypotrophic Syndrome	Abnormal trabecular bone morphology, Upper limb undergrowth, Abnormal foot morphology, Aplasia/hy...	ORPHA:75508
Metatropic Dysplasia	Scoliosis, Coarse metaphyseal trabecularization, Abnormal enchondral ossification, Hypoplastic ce...	ORPHA:2635
Osteopetrosis, Autosomal Recessive 9	Cortical sclerosis, Pathologic fracture, Elevated circulating creatinine concentration, Papillede...	OMIM:620366
Ulnar Hemimelia	Abnormal upper limb bone morphology, Hypoplastic scapulae, Short forearm, Radial bowing, Abnormal...	ORPHA:93320
Acrocapitofemoral Dysplasia	Short tibia, Radial bowing, Hypoplastic iliac wing, Dysplasia of the femoral head, Cone-shaped ep...	OMIM:607778
Short-Rib Thoracic Dysplasia 2 With Or Without Polydactyly	Rhizomelia, Brachydactyly, Broad palm, Postaxial hand polydactyly, Short foot, Short metacarpal, ...	OMIM:611263
Metatropic Dysplasia	Epiphyseal dysplasia, Hypoplasia of the odontoid process, Caudal appendage, Genu valgum, Flat ace...	OMIM:156530
Greenberg Dysplasia	Platyspondyly, Rhizomelia, Abnormal pelvis bone ossification, Micromelia, Abnormal form of the ve...	ORPHA:1426
Saul-Wilson Syndrome	Platyspondyly, Short distal phalanx of finger, Pseudoepiphyses of the metacarpals, Hypoplasia of ...	OMIM:618150
Flynn-Aird Syndrome	Joint stiffness, Increased bone density with cystic changes, Rod-cone dystrophy, Osteoporosis, In...	OMIM:136300
Progressive Osseous Heteroplasia	Limitation of joint mobility, Abnormality of the parathyroid gland, Ectopic ossification in muscl...	ORPHA:2762
Satoyoshi Syndrome	Genu valgum, Osteolytic defects of the phalanges of the hand, Pes planus, Brachydactyly, Short me...	OMIM:600705
Acromesomelic Dysplasia, Hunter-Thompson Type	Acromesomelia, Abnormal pelvic girdle bone morphology, Hip dislocation, Abnormality of the ankle,...	ORPHA:968
Pseudohypoparathyroidism Type 2	Hypocalcemic tetany, Hypocalcemic seizures, Hyperphosphatemia, Hypocalcemia	ORPHA:94090
Osteosclerotic Metaphyseal Dysplasia	Increased bone mineral density, Clavicular sclerosis	OMIM:615198
Czech Dysplasia	Platyspondyly, Limitation of joint mobility, Short toe, Intervertebral space narrowing, Flat capi...	OMIM:609162
Ritscher-Schinzel Syndrome 3	Short 1st metacarpal, Short first metatarsal, Epiphyseal stippling, Micrognathia, Cryptorchidism,...	OMIM:619135
Osteosclerosis-Developmental Delay-Craniosynostosis Syndrome	Craniosynostosis, Optic atrophy, Increased bone mineral density	ORPHA:178377
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness	Platyspondyly, Scoliosis, Hypoplastic iliac wing, Enlarged epiphyses of the phalanges of the hand...	OMIM:609616
Spondyloepiphyseal Dysplasia-Brachydactyly And Distinctive Speech	Delayed epiphyseal ossification, Hypoplastic iliac wing, Carpal bone hypoplasia, Short neck, Shor...	OMIM:611717
Myopathy, Tubular Aggregate, 2	Ankle flexion contracture, Hypocalcemia, Elevated circulating creatine kinase concentration	OMIM:615883
Multiple Epiphyseal Dysplasia Type 1	Delayed epiphyseal ossification, Limitation of joint mobility, Arthralgia of the hip, Joint stiff...	ORPHA:93308
Spondyloepiphyseal Dysplasia Tarda	Enlarged metaphyses, Finger swelling, Limitation of joint mobility, Hypoplasia of the odontoid pr...	ORPHA:93284
Metaphyseal Dysplasia, Braun-Tinschert Type	Radial bowing, Sclerosis of middle finger phalanx, Broad long bones, Humerus varus, Fibular bowin...	ORPHA:85188
Adams-Oliver Syndrome 3	Short distal phalanx of finger, Short 5th toe, 2-3 toe syndactyly, Short metatarsal, Absent toe, ...	OMIM:614814
Fibrodysplasia Ossificans Progressiva	Synostosis of joints, Abnormal vertebral morphology, Limitation of joint mobility, Ectopic ossifi...	ORPHA:337
Metacarpal 4-5 Fusion	2-3 toe cutaneous syndactyly, Short 5th metacarpal, Clinodactyly of the 5th finger, 4-5 metacarpa...	OMIM:309630
Progressive Pseudorheumatoid Arthropathy Of Childhood	Abnormal ilium morphology, Joint contracture of the hand, Limitation of joint mobility, Genu valg...	ORPHA:1159
Exudative Vitreoretinopathy 7	Exudative vitreoretinopathy, Retinal degeneration, Retinal detachment, Retinal hole, Retinal fold	OMIM:617572
Progressive Familial Intrahepatic Cholestasis	Reduced bone mineral density, Hypocalcemia	ORPHA:172
Renal Tubular Acidosis, Distal, 1	Osteomalacia, Pathologic fracture, Elevated circulating creatinine concentration, Hypocalcemia, H...	OMIM:179800
Epiphyseal Dysplasia, Multiple, With Severe Proximal Femoral Dysplasia	Epiphyseal dysplasia, Platyspondyly, Broad femoral neck, Arthralgia of the hip, Flared femoral me...	OMIM:609324
Pde4D Haploinsufficiency Syndrome	Micrognathia, Cryptorchidism, Broad foot, Pes planus, Broad phalanx, Bilateral coxa valga, Short ...	ORPHA:439822
Brachydactyly Type B	Short distal phalanx of finger, Synostosis of carpal bones, Finger syndactyly, Type B brachydacty...	ORPHA:93383
Heart-Hand Syndrome Type 2	Aplasia/Hypoplasia of the radius, Micromelia, Abnormal shoulder morphology, Short 5th metacarpal,...	ORPHA:1350
Syndactyly Type 2	Postaxial foot polydactyly, Sandal gap, Camptodactyly of finger, Preaxial foot polydactyly, 2-3 t...	ORPHA:93403
Acromesomelic Dysplasia 2A	Acromesomelia, Short tibia, Aplasia/Hypoplasia involving the metacarpal bones, Distal tibiofibula...	OMIM:200700
Cohen Syndrome	Decreased response to growth hormone stimulation test, Leukopenia, Genu valgum, Micrognathia, Lum...	OMIM:216550
Brachyolmia Type 1, Toledo Type	Abnormal odontoid process morphology, Precocious costochondral ossification, Lumbar hyperlordosis...	OMIM:271630
Diastrophic Dysplasia	Ulnar deviation of finger, Cervical kyphosis, Hypoplastic cervical vertebrae, Short finger, Irreg...	OMIM:222600
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland	Hypocalcemic seizures, Hyperphosphatemia, Hypocalcemia, Hypomagnesemia	ORPHA:2239
Stickler Syndrome, Type Iv	Epiphyseal dysplasia, Platyspondyly, Hypoplastic iliac wing, Irregular femoral epiphysis, Genu va...	OMIM:614134
Hyperparathyroidism 4	Osteopenia, Hypercalcemia	OMIM:617343
Acrodysostosis 1 With Or Without Hormone Resistance	Long hallux, Cryptorchidism, Decreased growth hormone responses to growth hormone-releasing hormo...	OMIM:101800
Osteogenesis Imperfecta, Type Viii	Platyspondyly, Osteopenia, Kyphosis, Radial bowing, Slender long bone, Femoral bowing, Tibial bow...	OMIM:610915
Acromesomelic Dysplasia 4	Radial bowing, Prominent deltoid tuberosities, Genu valgum, Beaking of vertebral bodies, Broad to...	OMIM:619636
Atelosteogenesis, Type I	Radial bowing, Elbow dislocation, Fibular aplasia, Micrognathia, Cryptorchidism, Talipes, Talipes...	OMIM:108720
Hip Dysplasia, Beukes Type	Scoliosis, Abnormal epiphysis morphology, Broad femoral neck, Kyphosis, Abnormality of the epiphy...	ORPHA:2114
Spondyloepimetaphyseal Dysplasia, Isidor-Toutain Type	Enlarged metaphyses, Platyspondyly, Lower-limb metaphyseal irregularity, Irregular femoral epiphy...	OMIM:618728
Spondyloepimetaphyseal Dysplasia, Handigodu Type	Limited hip movement, Dysplasia of the femoral head, Hip contracture, Abnormality of the knee, Pr...	ORPHA:99642
Retinoschisis 1, X-Linked, Juvenile	Mizuo phenomenon, Retinal degeneration, Vitreous hemorrhage, Retinal atrophy, Retinal detachment,...	OMIM:312700
Ollier Disease	Precocious puberty, Platyspondyly, Micromelia, Abnormal cartilage morphology, Joint stiffness, An...	ORPHA:296
Exudative Vitreoretinopathy 3	Retinal exudate, Exudative vitreoretinopathy, Retinal detachment, Retinal hole, Retinal fold	OMIM:605750
Progressive Pseudorheumatoid Dysplasia	Platyspondyly, Joint contracture of the hand, Camptodactyly of finger, Abnormal foot morphology, ...	OMIM:208230
Acromesomelic Dysplasia 2B	Deformed tarsal bones, Rhizomelia, Deviation of finger, Talipes equinovalgus, Fibular aplasia, Ma...	OMIM:228900
Trichorhinophalangeal Syndrome, Type I	Osteopenia, Cone-shaped epiphyses of the middle phalanges of the hand, Clinodactyly, Swelling of ...	OMIM:190350
Short Stature, Onychodysplasia, Facial Dysmorphism, And Hypotrichosis	Osteopenia, Small hand, Cone-shaped epiphysis, Short distal phalanx of finger, Clinodactyly, Rhiz...	OMIM:614813
Epiphyseal Stippling-Osteoclastic Hyperplasia Syndrome	Coarse metaphyseal trabecularization, Epiphyseal stippling, Bowing of the long bones, Abnormal bo...	ORPHA:1952
Multiple Endocrine Neoplasia, Type Iib	Elevated circulating calcitonin concentration, Proximal femoral epiphysiolysis, Pheochromocytoma,...	OMIM:162300
Frontometaphyseal Dysplasia	Joint contracture of the hand, Short distal phalanx of the thumb, Broad thumb, Micrognathia, Limi...	ORPHA:1826
Wormian Bone-Multiple Fractures-Dentinogenesis Imperfecta-Skeletal Dysplasia	Toe clinodactyly, Limitation of joint mobility, Upper limb undergrowth, Pathologic fracture, Abno...	ORPHA:166277
Exostoses, Multiple, Type Ii	Genu valgum, Protuberances at ends of long bones, Coxa vara, Pelvic bone exostoses, Short metacar...	OMIM:133701
Exostoses, Multiple, Type I	Genu valgum, Protuberances at ends of long bones, Coxa vara, Pelvic bone exostoses, Short metacar...	OMIM:133700
Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive, Leroy-Spranger Type	Platyspondyly, Broad femoral neck, Lumbar hyperlordosis, Genu valgum, Thoracic kyphosis, Interver...	OMIM:609223
Osteoglophonic Dysplasia	Hypoplastic scapulae, Broad thumb, Cryptorchidism, Broad foot, Bowing of the long bones, Short ne...	OMIM:166250
Isolated Osteopoikilosis	Sclerotic foci within carpal bones, Tarsal sclerosis, Limitation of joint mobility, Abnormal pelv...	ORPHA:166119
Maffucci Syndrome	Pituitary adenoma, Multiple enchondromatosis, Osteolysis, Goiter, Neoplasm of the parathyroid gla...	ORPHA:163634
Autosomal Recessive Kenny-Caffey Syndrome	Hypocalcemic tetany, Hypocalcemia, Decreased skull ossification, Calvarial osteosclerosis, Cortic...	ORPHA:93324
Slc39A13-Related Spondylodysplastic Ehlers-Danlos Syndrome	Platyspondyly, Osteopenia, Broad femoral neck, Thenar muscle atrophy, Abnormal metaphysis morphol...	ORPHA:157965
Osteogenesis Imperfecta, Type Xxii	Multiple small vertebral fractures, Slender long bone, Decreased circulating osteocalcin level, B...	OMIM:619795
Osteogenesis Imperfecta, Type V	Platyspondyly, Osteopenia, Abnormal pelvic girdle bone morphology, Vertebral wedging, Anterior ra...	OMIM:610967
Hypertension And Brachydactyly Syndrome	Short phalanx of finger, Type E brachydactyly, Cone-shaped epiphysis, Short metacarpal	OMIM:112410
Leri-Weill Dyschondrosteosis	Increased carrying angle, Abnormal femoral neck morphology, Short tibia, Radial bowing, Abnormal ...	OMIM:127300
Brachydactyly, Type E, With Atrial Septal Defect, Type Ii	Short 4th metacarpal, Type E brachydactyly, Short metatarsal	OMIM:113301
Brachydactyly-Nystagmus-Cerebellar Ataxia	Short metatarsal, Short metacarpal, Brachydactyly	OMIM:113400
Intellectual Disability-Facial Dysmorphism-Hand Anomalies Syndrome	Short distal phalanx of finger, Short distal phalanx of the thumb, Short 3rd metacarpal, Short to...	ORPHA:370010
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type	Abnormal cortical bone morphology, Splenomegaly, Limb undergrowth, Abnormal limb bone morphology,...	ORPHA:2204
Linear Verrucous Nevus Syndrome	Genu recurvatum, Toe syndactyly, Talipes, Scoliosis, Reduced bone mineral density, Short metacarpal	ORPHA:2611
Split-Hand/Foot Malformation 4	Aplasia/Hypoplasia of the phalanges of the toes, Ectrodactyly, Aplasia/Hypoplasia involving the m...	OMIM:605289
Spondyloepimetaphyseal Dysplasia, X-Linked	Hypoplasia of the odontoid process, Broad long bones, Broad phalanx, Flat acetabular roof, Short ...	OMIM:300106
Acromesomelic Dysplasia 2C	Acromesomelia, Shortening of all middle phalanges of the fingers, Short tibia, Short thumb, Radia...	OMIM:201250
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly	Angel-shaped phalanx, Short distal phalanx of finger, Sandal gap, Cone-shaped epiphyses of the ph...	OMIM:617102
Marinesco-Sjogren Syndrome	Kyphosis, Cubitus valgus, Pes planus, Hypergonadotropic hypogonadism, Short metatarsal, Scoliosis...	OMIM:248800
Brachydactyly, Type E2	Short metatarsal, Short metacarpal, Brachydactyly	OMIM:613382
Polydactyly, Postaxial, Type A7	Short fifth metatarsal, Postaxial hand polydactyly, Postaxial foot polydactyly, 2-3 toe cutaneous...	OMIM:617642
Jackson-Weiss Syndrome	Toe syndactyly, Preaxial foot polydactyly, Symphalangism affecting the phalanges of the hand, 2-3...	ORPHA:1540
Summitt Syndrome	Finger syndactyly, Camptodactyly of finger, Genu valgum, Clinodactyly of the 5th finger, Short 4t...	ORPHA:3210
Desbuquois Dysplasia 2	Epiphyseal dysplasia, Broad thumb, Broad foot, Short neck, Pes planus, Advanced ossification of c...	OMIM:615777
Spondyloepimetaphyseal Dysplasia Congenita, Strudwick Type	Aplasia/hypoplasia involving bones of the extremities, Abnormal vertebral morphology, Platyspondy...	ORPHA:93346
Hypocalcemic Vitamin D-Resistant Rickets	Hyperparathyroidism, Coarse metaphyseal trabecularization, Abnormal form of the vertebral bodies,...	ORPHA:93160
Pseudohypoparathyroidism Type 1C	Short fifth metatarsal, Broad distal phalanx of the thumb, Ectopic ossification, Short 3rd metaca...	ORPHA:79444
Spondylometaphyseal Dysplasia With Corneal Dystrophy	Lumbar platyspondyly, Coarse metaphyseal trabecularization, Thoracic platyspondyly, Increased int...	OMIM:618961
Late-Onset Retinal Degeneration	Choroidal neovascularization, Retinopathy, Retinal degeneration, Chorioretinal degeneration, Sub-...	OMIM:605670
Anauxetic Dysplasia 3	Broad middle phalanx of finger, Platyspondyly, Metaphyseal cupping, Short middle phalanx of finge...	OMIM:618853
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia	Broad thumb, Toe syndactyly, Shallow acetabular fossae, Hypoplastic iliac wing, Micrognathia, Cry...	OMIM:609945
Multiple Epiphyseal Dysplasia, Beighton Type	Limitation of joint mobility, Genu valgum, Intervertebral space narrowing, Reduced proximal inter...	ORPHA:166011
Multiple Endocrine Neoplasia Type 1	Increased serum serotonin, Increased circulating cortisol level, Pituitary prolactin cell adenoma...	ORPHA:652
Osteogenesis Imperfecta, Type Xxiii	Osteopenia, Shallow acetabular fossae, Recurrent fractures, Genu valgum, Broad femoral head, Seve...	OMIM:620639
Spondyloepiphyseal Dysplasia, Nishimura Type	Delayed epiphyseal ossification, Hyperphosphatemia, Hypocalcemia	OMIM:618618
Albers-Schönberg Osteopetrosis	Optic atrophy, Mandibular osteomyelitis, Osteomyelitis, Hypocalcemia, Generalized osteosclerosis,...	ORPHA:53
X-Linked Retinal Dysplasia	Retinal dysplasia, Abnormal retinal vascular morphology, Abnormality of retinal pigmentation	ORPHA:1852
Spondyloepiphyseal Dysplasia Tarda, Kohn Type	Platyspondyly, Abnormal ilium morphology, Abnormal vertebral morphology, Abnormality of the ankle...	ORPHA:163665
Heyn-Sproul-Jackson Syndrome	11 pairs of ribs, Broad phalanx, Short phalanx of finger, Short metacarpal, Broad metacarpals	OMIM:618724
Greenberg Dysplasia	Fractured rib, Postaxial foot polydactyly, Supernumerary vertebral ossification centers, Hepatosp...	OMIM:215140
Larsen Syndrome	Hypoplastic cervical vertebrae, Elbow dislocation, Cryptorchidism, Talipes equinovarus, Beaking o...	OMIM:150250
Dysspondyloenchondromatosis	Platyspondyly, Anisospondyly, Scoliosis, Lower limb asymmetry, Genu valgum, Metaphyseal enchondro...	ORPHA:85198
Spondyloepiphyseal Dysplasia, Stanescu Type	Platyspondyly, Hypoplastic ilia, Vertebral wedging, Stiff neck, Joint stiffness, Internal tibial ...	OMIM:616583
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly	Aplasia/Hypoplasia of fingers, Toe syndactyly, Finger syndactyly, Radial bowing, Clinodactyly, Hy...	OMIM:228930
Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy	Hypokalemia, Hyponatremia, Hypocalcemia, Hypomagnesemia	OMIM:620152
Acromegaloid Facial Appearance Syndrome	Short 5th metacarpal, Micrognathia, Joint hypermobility, Large hands, Tapered finger	OMIM:102150
Patent Ductus Arteriosus And Bicuspid Aortic Valve With Hand Anomalies	Short toe, Short finger, Short 5th metacarpal, Brachydactyly, Clinodactyly of the 5th finger, Pat...	OMIM:604381
Familial Expansile Osteolysis	Pathologic fracture, Bowing of the long bones, Osteolysis, Thin bony cortex	OMIM:174810
Paternal Uniparental Disomy Of Chromosome X	Decreased testicular size, Short neck, Cubitus valgus, Short metacarpal	ORPHA:261524
Trichorhinophalangeal Syndrome Type 1	Short distal phalanx of finger, Cone-shaped epiphysis, Camptodactyly of finger, Shortening of all...	ORPHA:77258
Hand-Foot-Genital Syndrome	Short 5th finger, Shortening of all middle phalanges of the fingers, Short 1st metacarpal, Ulnar ...	OMIM:140000
Spondylometaphyseal Dysplasia, Kozlowski Type	Platyspondyly, Hypoplasia of the odontoid process, Dumbbell-shaped femur, Flared metaphysis, Irre...	OMIM:184252
Spondyloepimetaphyseal Dysplasia, Shohat Type	Delayed epiphyseal ossification, Abnormal vertebral morphology, Premature osteoarthritis, Hepatos...	ORPHA:93352
Craniodiaphyseal Dysplasia, Autosomal Dominant	Optic atrophy, Craniofacial hyperostosis, Craniofacial osteosclerosis, Cortical sclerosis, Papill...	OMIM:122860
Chondroectodermal Dysplasia With Night Blindness	Epiphyseal dysplasia, Osteopenia, Platyspondyly, Fractures of the long bones, Equinovarus deformi...	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	Limitation of joint mobility, Slender long bone, Abnormal form of the vertebral bodies, Abnormal ...	ORPHA:1486
Multiple Osteochondromas	Limitation of joint mobility, Abnormal tibia morphology, Limited hip movement, Abnormal hand morp...	ORPHA:321
Spondylometaphyseal Dysplasia, X-Linked	Platyspondyly, Short finger, Sclerosis of skull base, Knee flexion contracture, Hip contracture, ...	OMIM:313420
Hypochondroplasia	Flared metaphysis, Lumbar hyperlordosis, Limited elbow extension, Trident hand, Aplasia/hypoplasi...	OMIM:146000
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Leptodactylic Type	Delayed epiphyseal ossification, Epiphyseal dysplasia, Premature osteoarthritis, Genu valgum, Abn...	ORPHA:93360
Familial Drusen	Peripapillary chorioretinal atrophy, Choroidal neovascularization, Subretinal fluid, Reticular pi...	ORPHA:75376
Ck Syndrome	Micrognathia, Abnormal cortical bone morphology, Abnormal digit morphology, Joint hypermobility, ...	OMIM:300831
Lissencephaly Type 3-Metacarpal Bone Dysplasia Syndrome	Short distal phalanx of finger, Epiphyseal stippling, Talipes equinovarus, Abnormal cartilage mat...	ORPHA:86822
Vitamin D Hydroxylation-Deficient Rickets, Type 1B	Delayed epiphyseal ossification, Rickets, Bulging epiphyses, Enlargement of the wrists, Fibular b...	OMIM:600081
Autosomal Dominant Hypophosphatemic Rickets	Hypophosphatemia, Rickets, Hypocalcemia, Osteomalacia	ORPHA:89937
Hypoparathyroidism, Familial Isolated, 1	Hypocalcemic seizures, Hyperphosphatemia, Hypocalcemia	OMIM:146200
Temtamy Preaxial Brachydactyly Syndrome	Clinodactyly, Carpal synostosis, Radioulnar synostosis, Brachydactyly, Short metatarsal, Hitchhik...	OMIM:605282
Metaphyseal Chondrodysplasia, Schmid Type	Broad middle phalanx of finger, Distal tibial bowing, Genu valgum, Genu varum, Irregular vertebra...	OMIM:156500
Pseudohypoparathyroidism Type 1A	Short neck, Short metacarpal, Broad distal phalanx of the thumb, Ectopic ossification, Short 3rd ...	ORPHA:79443
Cranio-Osteoarthropathy	Clubbing of toes, Deviation of finger, Abnormal tibia morphology, Joint stiffness, Abnormal corti...	ORPHA:1525
Retinopathy, Pericentral Pigmentary, Dominant	Pigmentary retinopathy, Attenuation of retinal blood vessels, Retinopathy, Retinal atrophy, Bone ...	OMIM:180210
Dentin Dysplasia With Sclerotic Bones	Cortical sclerosis	OMIM:125440
Rhizomelic Dysplasia, Patterson-Lowry Type	Rhizomelia, Deviation of finger, Abnormal form of the vertebral bodies, Genu valgum, Deformed hum...	ORPHA:2831
Brachydactyly-Arterial Hypertension Syndrome	Short metacarpal, Short phalanx of finger, Brachydactyly	ORPHA:1276
Spondyloepimetaphyseal Dysplasia, Strudwick Type	Platyspondyly, Hypoplasia of the odontoid process, Scoliosis, Clinodactyly, Genu valgum, Delayed ...	OMIM:184250
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly	Radial bowing, Genu valgum, Thoracolumbar scoliosis, Metaphyseal dysplasia, Ovoid vertebral bodie...	OMIM:618019
Axial Osteomalacia	Increased bone mineral density, Osteomalacia, Elevated circulating creatine kinase concentration	OMIM:109130
Osteosclerosis With Ichthyosis And Fractures	Cortical thickening of long bone diaphyses, Increased bone mineral density, Recurrent fractures	OMIM:166740
Multiple Endocrine Neoplasia Type 4	Increased circulating cortisol level, Pituitary prolactin cell adenoma, Increased urinary cortiso...	ORPHA:276152
Pseudohypoparathyroidism Type 1B	Hyperphosphatemia, Hypocalcemic tetany, Increased bone density with cystic changes, Hypocalcemia,...	ORPHA:94089
Roifman Syndrome	Biconvex vertebral bodies, Short toe, Irregular femoral epiphysis, Splenomegaly, Hip contracture,...	OMIM:616651
Caffey Disease	Cortical irregularity, Periosteal thickening of long tubular bones, Calvarial hyperostosis, Corti...	ORPHA:1310
Osteopetrosis, Autosomal Dominant 1	Thickened cortex of long bones, Generalized osteosclerosis, Osteopetrosis, Calvarial osteoscleros...	OMIM:607634
Endosteal Hyperostosis, Autosomal Dominant	Sclerotic vertebral body, Metatarsal diaphyseal endosteal sclerosis, Abnormal pelvic girdle bone ...	OMIM:144750
Split-Hand/Foot Malformation 2	Finger syndactyly, Split hand, Short phalanx of finger, Short metacarpal, Split foot	OMIM:313350
Intermediate Osteopetrosis	Cortical sclerosis, Osteomyelitis, Increased susceptibility to fractures, Abnormality of bone min...	ORPHA:210110
Upper Limb Defect-Eye And Ear Abnormalities Syndrome	Short metacarpal, Short thumb, Cryptorchidism	ORPHA:2489
Atelosteogenesis, Type Ii	Micrognathia, Increased intervertebral space, Talipes equinovarus, Short neck, Short greater scia...	OMIM:256050
Chst3-Related Skeletal Dysplasia	Rhizomelia, Abnormal form of the vertebral bodies, Irregular epiphyses, Small epiphyses, Genu val...	ORPHA:263463
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3	Platyspondyly, Short femoral neck, Knee dislocation, Joint hypermobility, Narrow vertebral interp...	OMIM:618395
Postaxial Oligodactyly, Tetramelic	Postaxial foot polydactyly, Cone-shaped epiphysis, Radial bowing, Postaxial oligodactyly, Lunate-...	OMIM:176240
Hypophosphatemic Rickets, X-Linked Recessive	Delayed epiphyseal ossification, Rickets, Bulging epiphyses, Osteomalacia, Enlargement of the wri...	OMIM:300554
Atelosteogenesis Type Ii	Hypoplastic cervical vertebrae, Elbow dislocation, Equinovarus deformity, Genu valgum, Micrognath...	ORPHA:56304
Autoimmune Hypoparathyroidism	Hyperphosphatemia, Hypocalcemic tetany, Hypocalcemia, Increased bone mineral density, Hypocalcemi...	ORPHA:36913
Osteopetrosis, Autosomal Recessive 1	Optic atrophy, Pathologic fracture, Osteomyelitis, Hypocalcemia, Femur fracture, Osteopetrosis, C...	OMIM:259700
Kenny-Caffey Syndrome, Type 2	Hyperphosphatemia, Hypocalcemia, Thickened cortex of long bones, Papilledema, Transient hypophosp...	OMIM:127000
Mueller-Weiss Syndrome	Sclerosis of foot bone, Joint stiffness, Limitation of movement at ankles, Knee osteoarthritis, A...	ORPHA:566943
Spondyloepimetaphyseal Dysplasia, Shohat Type	Delayed epiphyseal ossification, Narrow vertebral interpedicular distance, Short neck, Genu varum...	OMIM:602557
Weill-Marchesani Syndrome 2	Broad phalanges of the hand, Short finger, Elbow flexion contracture, Spinal canal stenosis, Join...	OMIM:608328
Patent Ductus Arteriosus-Bicuspid Aortic Valve-Hand Anomalies Syndrome	Short 5th metacarpal, Abnormal hand morphology, Short digit, Clinodactyly of the 5th finger, Pate...	ORPHA:228190
Bruck Syndrome 1	Platyspondyly, Ankle flexion contracture, Vertebral wedging, Elbow flexion contracture, Increased...	OMIM:259450
Distal Deletion 10Q	2-3 toe cutaneous syndactyly, Clinodactyly, Prominent fingertip pads, Sandal gap, Lumbar hyperlor...	ORPHA:96148
Hyperparathyroidism 1	Hypercalcemia	OMIM:145000
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures	Epiphyseal dysplasia, Radial bowing, Carpal synostosis, Genu valgum, Micrognathia, Talipes equino...	OMIM:271640
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type	Hypoplasia of the odontoid process, Broad long bones, Micrognathia, Short neck, Broad phalanx, Sh...	OMIM:271665
Spondylometaphyseal Dysplasia, Sedaghatian Type	Delayed epiphyseal ossification, Widened greater sciatic notch, Talipes equinovarus, Short neck, ...	OMIM:250220
Craniometadiaphyseal Dysplasia, Wormian Bone Type	Osteopenia, Broad femoral neck, Overtubulated long bones, Abnormal diaphysis morphology, Short tu...	ORPHA:85184
Hypophosphatemic Rickets, X-Linked Dominant	Shortening of the talar neck, Abnormal pelvic girdle bone morphology, Rickets, Elevated circulati...	OMIM:307800
Boomerang Dysplasia	Finger syndactyly, Micromelia, Abnormal tibia morphology, Decreased response to growth hormone st...	ORPHA:1263
Hypophosphatemic Rickets With Hypercalciuria, Hereditary	Delayed epiphyseal ossification, Decreased circulating parathyroid hormone level, Rickets, Bulgin...	OMIM:241530
Birdshot Chorioretinopathy	Abnormal chorioretinal morphology, Choroidal neovascularization, Retinal thinning, Epiretinal mem...	ORPHA:179
Pseudohypoparathyroidism, Type Ib	Hyperphosphatemia, Hypocalcemia	OMIM:603233
Andersen Cardiodysrhythmic Periodic Paralysis	Small hand, Toe syndactyly, Scoliosis, Slender long bone, Micrognathia, Joint hypermobility, Clin...	OMIM:170390
Melorheostosis	Joint stiffness, Ectopic ossification in muscle tissue, Hyperostosis, Arthritis, Increased bone m...	ORPHA:2485
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome	Platyspondyly, Slender finger, Anisospondyly, Hemiatrophy of upper limb, Thoracic kyphosis, Micro...	ORPHA:163649
C Syndrome	Hip dislocation, Toe syndactyly, Fused sternal ossification centers, Postaxial foot polydactyly, ...	OMIM:211750
Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive	Epiphyseal dysplasia, Platyspondyly, Aplasia/Hypoplasia of the capital femoral epiphysis, Flared ...	OMIM:215150
Brachydactyly, Type E1	Type E brachydactyly, Short clavicles, Brachydactyly, Short metatarsal, Short metacarpal	OMIM:113300
Vitamin D Hydroxylation-Deficient Rickets, Type 1A	Delayed epiphyseal ossification, Subperiosteal bone resorption, Rickets, Bulging epiphyses, Eleva...	OMIM:264700
Achondrogenesis Type 2	Hypoplastic ilia, Unossified sacrum, Micromelia, Absent vertebral body mineralization, Delayed pu...	ORPHA:93296
Van Maldergem Syndrome 1	Osteopenia, Tracheomalacia, Clinodactyly, Abnormal foot morphology, Sacral dimple, Cutaneous fing...	OMIM:601390
Spondyloepiphyseal Dysplasia Congenita	Dysplasia of the femoral head, Genu valgum, Micrognathia, Limited elbow movement, Short neck, Fla...	ORPHA:94068
Epiphyseal Dysplasia, Multiple, With Early-Onset Diabetes Mellitus	Epiphyseal dysplasia, Hypoplasia of the odontoid process, Insulin-resistant diabetes mellitus, Iv...	OMIM:226980
Trichodentoosseous Syndrome	Increased bone mineral density	OMIM:190320
Ruvalcaba Syndrome	Small hand, Cone-shaped epiphysis, Synostosis of carpal bones, Micromelia, Kyphosis, Abnormal ver...	ORPHA:3121
Vitamin D-Dependent Rickets, Type 2A	Delayed epiphyseal ossification, Subperiosteal bone resorption, Rickets, Bulging epiphyses, Eleva...	OMIM:277440
Caffey Disease	Cortical irregularity, Periosteal thickening of long tubular bones, Tibial bowing, Joint hypermob...	OMIM:114000
Grant Syndrome	Abnormality of the glenoid fossa, Abnormal pelvic girdle bone morphology, Micrognathia, Abnormal ...	ORPHA:2097
Lethal Short-Limb Skeletal Dysplasia, Al Gazali Type	Platyspondyly, Shortening of all phalanges of fingers, Limb undergrowth, Shortening of all metaca...	OMIM:601356
Van Maldergem Syndrome 2	Osteopenia, Cutaneous syndactyly of toes, Clinodactyly, Tracheomalacia, Sacral dimple, Cutaneous ...	OMIM:615546
Weaver Syndrome	Joint contracture of the hand, Broad thumb, Clinodactyly, Hypoplastic iliac wing, Overlapping toe...	OMIM:277590
Body Mass Index Quantitative Trait Locus 20	Increased bone mineral density	OMIM:618406
Otopalatodigital Syndrome, Type I	Toe syndactyly, Synostosis of carpal bones, Absent frontal sinuses, Short hallux, Dislocated radi...	OMIM:311300
Gorham-Stout Disease	Osteopenia, Cortical irregularity, Osteomyelitis, Pathologic fracture, Abnormal femur morphology,...	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 distal phalanx of finger, Short 1st metacarpal, Short first metatarsal, Prominent interdigi...	OMIM:601957
Autosomal Recessive Axonal Neuropathy With Neuromyotonia	Peroneal muscle atrophy, Camptodactyly of finger, Abnormal foot morphology, Absent Achilles refle...	ORPHA:324442
Spondyloepiphyseal Dysplasia, Maroteaux Type	Platyspondyly, Atlantoaxial instability, Genu valgum, Kyphoscoliosis, Short neck, Pes planus, Gen...	OMIM:184095
Osteoarthritis With Mild Chondrodysplasia	Platyspondyly, Hip osteoarthritis, Schmorl's node, Joint stiffness, Knee osteoarthritis, Beaking ...	OMIM:604864
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis	Microretrognathia, Scoliosis, Knee dislocation, Small epiphyses, Genu valgum, Micrognathia, Hip c...	OMIM:618363
Zechi-Ceide Syndrome	Long foot, Short distal phalanx of finger, Short metatarsal, Sandal gap	OMIM:612916
Kniest Dysplasia	Delayed epiphyseal ossification, Platyspondyly, Rhizomelia, Limitation of joint mobility, Tracheo...	OMIM:156550
Autosomal Recessive Hypophosphatemic Rickets	Abnormal trabecular bone morphology, Pseudo-fractures, Lower limb asymmetry, Osteomalacia, Ricket...	ORPHA:289176
Lethal Recessive Chondrodysplasia	Micromelia, Micrognathia, Flared elbow metaphyses, Generalized osteosclerosis, Limb undergrowth, ...	ORPHA:1423
Otopalatodigital Syndrome, Type Ii	Toe syndactyly, Broad thumb, Radial bowing, Rudimentary fibula, Overlapping fingers, Radial devia...	OMIM:304120
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome	Enlarged metaphyses, Abnormal ilium morphology, Postaxial foot polydactyly, Broad phalanges of th...	ORPHA:508533
Rhizomelic Dysplasia, Ain-Naz Type	Platyspondyly, Rhizomelia, Limitation of joint mobility, Wide distal femoral metaphysis, Short hu...	OMIM:619598
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type	Abnormal vertebral morphology, Limitation of joint mobility, Clinodactyly, Hypoplastic iliac wing...	ORPHA:93315
Multicentric Osteolysis, Nodulosis, And Arthropathy	Distal tapering of metatarsals, Finger swelling, Micrognathia, Interphalangeal joint erosions, Hi...	OMIM:259600
Fibrodysplasia Ossificans Progressiva	Broad femoral neck, Short 1st metacarpal, Small cervical vertebral bodies, Ectopic ossification i...	OMIM:135100
Axial Spondylometaphyseal Dysplasia	Abnormal ilium morphology, Hypoplastic iliac wing, Abnormal metacarpal morphology, Flat acetabula...	ORPHA:168549
Hand-Foot-Genital Syndrome	Short distal phalanx of finger, Shortening of all middle phalanges of the fingers, Synostosis of ...	ORPHA:2438
Short Stature-Brachydactyly-Obesity-Global Developmental Delay Syndrome	Patellar hypoplasia, Cryptorchidism, Pseudohypoparathyroidism, Short neck, Brachydactyly, Short f...	ORPHA:464288
Hypocalcemia, Autosomal Dominant 1	Hyperphosphatemia, Hypomagnesemia, Hypocalcemia, Hypokalemia, Increased circulating renin level	OMIM:601198
Dentinogenesis Imperfecta-Short Stature-Hearing Loss-Intellectual Disability Syndrome	Platyspondyly, Osteoporosis, Cone-shaped epiphysis	ORPHA:71267
Chondrodysplasia-Difference Of Sex Development Syndrome	Abnormal pelvic girdle bone morphology, Increased skull ossification, Micromelia, Broad long bone...	ORPHA:1422
Osteogenesis Imperfecta, Type Ix	Platyspondyly, Kyphosis, Bowing of limbs due to multiple fractures, Decreased calvarial ossificat...	OMIM:259440
Melnick-Needles Syndrome	Craniofacial hyperostosis, Short distal phalanx of finger, Anisospondyly, Cone-shaped epiphyses o...	ORPHA:2484
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations	Elbow dislocation, Genu valgum, Bilateral single transverse palmar creases, Intervertebral space ...	OMIM:143095
Acromesomelic Dysplasia, Grebe Type	Synostosis of carpal bones, Short tibia, Short toe, Aplasia of the middle phalanges of the toes, ...	ORPHA:2098
Osteopetrosis, Autosomal Recessive 4	Optic atrophy, Optic disc pallor, Osteopetrosis, Increased bone mineral density, Recurrent fractures	OMIM:611490
Metaphyseal Dysostosis-Intellectual Disability-Conductive Deafness Syndrome	Short femoral neck, Flared metaphysis, Short palm, Equinovarus deformity, Aplasia/Hypoplasia of m...	ORPHA:2502
Hall-Riggs Syndrome	Platyspondyly, Brachydactyly, Metaphyseal dysplasia, Osteoporosis, Scoliosis, Kyphosis, Irregular...	OMIM:234250
Fibrous Dysplasia Of Bone	Increased circulating cortisol level, Osteomalacia, Abnormal tibia morphology, Ovarian cyst, Bowi...	ORPHA:249
Sillence Syndrome	Abnormal vertebral morphology, Broad thumb, Intervertebral disk degeneration, Flat acetabular roo...	ORPHA:3168
Bruck Syndrome	Platyspondyly, Kyphosis, Joint stiffness, Bowing of the long bones, Talipes equinovarus, Osteopor...	ORPHA:2771
Osteopetrosis, Autosomal Dominant 2	Hip osteoarthritis, Mandibular osteomyelitis, Fractures of the long bones, Generalized osteoscler...	OMIM:166600
Verloove Vanhorick-Brubakk Syndrome	Abnormal pelvic girdle bone morphology, Finger syndactyly, Abnormality of the parathyroid gland, ...	ORPHA:3429
Pelger-Huet Anomaly	Short 3rd metacarpal, Giant platelets, Upper limb undergrowth, Short 5th metacarpal, Pes cavus, P...	OMIM:169400
Osteogenesis Imperfecta, Type Xxi	Platyspondyly, Bowing of the arm, Joint hypermobility, Pes valgus, Pes planus, Coxa vara, Osteopo...	OMIM:619131
Cri-Du-Chat Syndrome	Microretrognathia, Cryptorchidism, Single transverse palmar crease, Short neck, Pes planus, Metat...	OMIM:123450
Paget Disease Of Bone 5, Juvenile-Onset	Osteopenia, Hyperphosphatemia, Increased bone mineral density, Retinopathy, Hyperuricemia, Angioi...	OMIM:239000
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy	Platyspondyly, Metaphyseal cupping, Rhizomelia, Scoliosis, Flared metaphysis, Short finger, Joint...	OMIM:608940
Anauxetic Dysplasia 1	Platyspondyly, Hypoplastic ilia, Rhizomelia, Atlantoaxial dislocation, Short toe, Flared metaphys...	OMIM:607095
Multiple Endocrine Neoplasia Type 2	Thyroid C cell hyperplasia, Elevated circulating calcitonin concentration, Elevated circulating p...	ORPHA:653
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome	Ivory epiphyses, Hypoplastic ilia, Rhizomelia, Platyspondyly, Abnormal epiphysis morphology, Meta...	ORPHA:85167
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type	Platyspondyly, Metaphyseal spurs, Micromelia, Irregular epiphyses, Small epiphyses, Femoral bowin...	OMIM:608728
Leukodystrophy, Hypomyelinating, 26, With Chondrodysplasia	Hypoplastic cervical vertebrae, Elbow dislocation, Knee dislocation, Small epiphyses, Joint hyper...	OMIM:620269
Rubinstein-Taybi Syndrome 2	Broad thumb, Prominent fingertip pads, Short 5th toe, Broad hallux, Short first metatarsal, Micro...	OMIM:613684
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia	Platyspondyly, Metaphyseal cupping of metacarpals, Metaphyseal cupping, Rhizomelia, Distal shorte...	OMIM:300863
Chromosome 2Q37 Deletion Syndrome	Short toe, Type E brachydactyly, Hypothyroidism, Short fourth metatarsal, Short phalanx of finger...	OMIM:600430
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1	Osteopenia, Short toe, Sandal gap, Short 5th metacarpal, 11 pairs of ribs, Clinodactyly of the 5t...	OMIM:617877
Second Metatarsal-Metacarpal Syndrome	Synostosis of carpals/tarsals, Platyspondyly, Abnormal metacarpal morphology	OMIM:269630
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency	Abnormal vertebral morphology, Hypoplastic scapulae, Elevated circulating luteinizing hormone lev...	ORPHA:95699
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome	Platyspondyly, Rhizomelia, Abnormal epiphysis morphology, Micrognathia, Abnormal metaphysis morph...	ORPHA:93267
Codas Syndrome	Congenital hip dislocation, Abnormal pelvic girdle bone morphology, Abnormal epiphysis morphology...	ORPHA:1458
Shashi-Pena Syndrome	Kyphosis, Cervical C2/C3 vertebral fusion, Patent ductus arteriosus, Deep palmar crease, Osteopor...	OMIM:617190
Geroderma Osteodysplastica	Platyspondyly, Abnormal epiphysis morphology, Abnormal form of the vertebral bodies, Recurrent fr...	ORPHA:2078
Kniest Dysplasia	Delayed epiphyseal ossification, Enlarged metaphyses, Hypoplasia of the odontoid process, Aplasia...	ORPHA:485
Zollinger-Ellison Syndrome	Hyperparathyroidism, Thyroid adenoma, Pituitary adenoma, Increased circulating cortisol level, Pi...	ORPHA:913
Alpha-Heavy Chain Disease	Hypocalcemia	ORPHA:100025
Brachydactyly, Type B1	Joint contracture of the hand, Broad thumb, Hypoplastic sacrum, Aplasia/Hypoplasia of the distal ...	OMIM:113000
Hypophosphatemic Bone Disease	Bowing of the legs, Rickets, Osteomalacia	OMIM:146350
Cantu Syndrome	Platyspondyly, Erlenmeyer flask deformity of the femurs, Broad hallux, Ovoid vertebral bodies, Br...	OMIM:239850
Mesomelia-Synostoses Syndrome	Mesomelia, Abnormal vertebral morphology, Tarsometatarsal synostosis, Microretrognathia, Micromel...	OMIM:600383
Kenny-Caffey Syndrome, Type 1	Decreased skull ossification, Hypocalcemia, Calvarial osteosclerosis, Hypomagnesemia	OMIM:244460
Lipodystrophy, Congenital Generalized, Type 3	Hypercholesterolemia, Hypocalcemia, Hypertriglyceridemia	OMIM:612526
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly	Clinodactyly of the 2nd finger, Absent middle phalanx of 5th finger, Hepatosplenomegaly, Microgna...	OMIM:266920
Brachydactyly Type A1	Cone-shaped epiphysis, Distal symphalangism of hands, Short thumb, Talipes equinovarus, Short hal...	ORPHA:93388
Spondyloepimetaphyseal Dysplasia, Missouri Type	Pear-shaped vertebrae, Platyspondyly, Metaphyseal cupping, Rhizomelia, Radial bowing, Flared meta...	OMIM:602111
Retinitis Pigmentosa 70	Macular degeneration, Attenuation of retinal blood vessels, Retinal degeneration, Rod-cone dystro...	OMIM:615922
Gm1-Gangliosidosis, Type Ii	Platyspondyly, Thoracolumbar kyphosis, Sea-blue histiocytosis, Joint stiffness, Splenomegaly, Hyp...	OMIM:230600
Spondyloepiphyseal Dysplasia, Kimberley Type	Platyspondyly, Genu valgum, Flat capital femoral epiphysis, Genu varum	OMIM:608361
Martsolf Syndrome 1	Micrognathia, Cryptorchidism, Talipes equinovarus, Pes planus, Broad fingertip, Finger joint hype...	OMIM:212720
Proteus Syndrome	Mandibular hyperostosis, Hypertrophy of skin of soles, Facial hyperostosis, Splenomegaly, Kyphosc...	OMIM:176920
Dent Disease 1	Delayed epiphyseal ossification, Rickets, Bulging epiphyses, Osteomalacia, Enlargement of the wri...	OMIM:300009
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type	Radial bowing, Severe limb shortening, Short neck, Flat acetabular roof, Hypoplastic ischia, Ovoi...	OMIM:151210
Spondyloepiphyseal Dysplasia Tarda With Impaired Intellectual Development	Platyspondyly, Short greater sciatic notch, Anterior beaking of lumbar vertebrae, Coxa valga	OMIM:271620
Osteogenesis Imperfecta, Type Xviii	Femoral bowing, Micrognathia, Biconcave vertebral bodies, Joint hypermobility, Bowing of the long...	OMIM:617952
Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive	Platyspondyly, Hip osteoarthritis, Osteoarthritis, Flattened metatarsal heads, Flattened metacarp...	OMIM:271600
Spondylometaphyseal Dysplasia, A4 Type	Platyspondyly, Limitation of joint mobility, Micromelia, Coxa vara, Short palm	ORPHA:168555
Nephropathy-Deafness-Hyperparathyroidism Syndrome	Hypercalcemia, Bone cyst	ORPHA:2668
Phocomelia-Ectrodactyly-Deafness-Sinus Arrhythmia Syndrome	Ectrodactyly, Radial club hand, Abnormality of the wrist, Asymmetric radial dysplasia, Ulnar bowi...	ORPHA:2878
Acheiropody	Lower limb peromelia, Absent forearm, Short tibia, Absent radius, Fibular aplasia, Absent hand, C...	OMIM:200500
Odontochondrodysplasia	Platyspondyly, Cone-shaped epiphysis, Square pelvis bone, Micromelia, Joint hypermobility, Bowing...	ORPHA:166272
Synostoses, Tarsal, Carpal, And Digital	Aplasia/Hypoplasia of the middle phalanges of the hand, Carpal synostosis, Metacarpophalangeal sy...	OMIM:186400
Zechi-Ceide Syndrome	Long foot, Short distal phalanx of finger, Short metatarsal, Sandal gap	ORPHA:217017
Brachyolmia Type 4 With Mild Epiphyseal And Metaphyseal Changes	Platyspondyly, Lower limb undergrowth, Kyphoscoliosis, Lumbar scoliosis, Irregular vertebral endp...	OMIM:612847
2P21 Microdeletion Syndrome	Hypocalcemia	ORPHA:163693
Blomstrand Lethal Chondrodysplasia	Synostosis of joints, Aplastic clavicle, Metaphyseal cupping, Rhizomelia, Abnormal epiphysis morp...	ORPHA:50945
Schwartz-Jampel Syndrome, Type 1	Joint contracture of the hand, Micrognathia, Hip contracture, Bowing of the long bones, Talipes e...	OMIM:255800
Hypocalcemic Vitamin D-Dependent Rickets	Delayed epiphyseal ossification, Subperiosteal bone resorption, Hypochromic anemia, Rickets, Elev...	ORPHA:289157
Autosomal Dominant Brachyolmia	Platyspondyly, Increased vertebral height, Abnormal metaphysis morphology, Kyphoscoliosis	ORPHA:93304
Mucopolysaccharidosis, Type Iva	Platyspondyly, Constricted iliac wing, Hypoplasia of the odontoid process, Kyphosis, Genu valgum,...	OMIM:253000
Pitt-Hopkins Syndrome	Short fifth metatarsal, Small hand, Clinodactyly, Prominent fingertip pads, Supernumerary nipple,...	OMIM:610954
Codas Syndrome	Congenital hip dislocation, Absent epiphyses, Hypoplasia of the odontoid process, Scoliosis, Genu...	OMIM:600373
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis	Optic atrophy, Craniofacial osteosclerosis, Increased skull ossification, Hypocalcemia, Osteopetr...	OMIM:618476
Calvarial Doughnut Lesions With Bone Fragility	Platyspondyly, Osteopenia, Femoral bowing, Osteoporosis, Scoliosis, Recurrent fractures	OMIM:126550
Osteogenesis Imperfecta, Type Xvi	Platyspondyly, Osteopenia, Rhizomelia, Microretrognathia, Joint hypermobility, Bowing of the long...	OMIM:616229
Epiphyseal Dysplasia, Baumann Type	Epiphyseal dysplasia, Ulnar deviation of finger, Carpal bone aplasia, Genu valgum, Joint hypermob...	OMIM:610797
Microcephaly, Short Stature, And Limb Abnormalities	Patellar hypoplasia, 11 pairs of ribs, Patellar aplasia, Radioulnar synostosis, Brachydactyly, Hy...	OMIM:617604
Exudative Vitreoretinopathy 4	Retinal exudate, Osteopenia, Exudative vitreoretinopathy, Posterior vitreous detachment, Traction...	OMIM:601813
Familial Exudative Vitreoretinopathy	Macular edema, Vitreoretinopathy, Subretinal fluid, Epiretinal membrane, Tractional retinal detac...	ORPHA:891
Osteopetrosis, Autosomal Recessive 6	Osteopetrosis	OMIM:611497
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome	Platyspondyly, Osteoporosis, Kyphosis	ORPHA:2786
Bruck Syndrome 2	Platyspondyly, Osteopenia, Elbow flexion contracture, Femoral bowing, Increased susceptibility to...	OMIM:609220
Refractory Celiac Disease	Hypoalbuminemia, Hypomagnesemia, Hypocalcemia, Hypophosphatemia, Osteoporosis, Hypoproteinemia	ORPHA:398063
Geleophysic Dysplasia 1	Platyspondyly, Osteopenia, Joint contracture of the hand, Cone-shaped epiphysis, Short metacarpal...	OMIM:231050
Microcephalic Osteodysplastic Dysplasia, Saul-Wilson Type	Platyspondyly, Small hand, Hypoplasia of the odontoid process, Talipes equinovarus, Irregularity ...	ORPHA:85172
Retinitis Pigmentosa 13	Attenuation of retinal blood vessels, Asteroid hyalosis, Cystoid macular edema, Retinal degenerat...	OMIM:600059
Urban-Rogers-Meyer Syndrome	Toe syndactyly, Abnormal epiphysis morphology, Kyphosis, Abnormal diaphysis morphology, Camptodac...	ORPHA:3409
Parathyroid Carcinoma	Hypercalcemia	OMIM:608266
Spondyloepimetaphyseal Dysplasia, Sponastrime Type	Genu valgum, Narrow vertebral interpedicular distance, Lumbar interpedicular narrowing, Neutropen...	OMIM:271510
Ulna And Fibula, Absence Of, With Severe Limb Deficiency	Radial bowing, Aplasia/Hypoplasia of the pubic bone, Fibular aplasia, Humeroradial synostosis, Ap...	OMIM:276820
Familial Isolated Hyperparathyroidism	Generalized osteoporosis, Osteopenia, Hypophosphatemia, Hypercalcemia	ORPHA:99879
Dysosteosclerosis	Platyspondyly, Craniofacial hyperostosis, Coarse metaphyseal trabecularization, Hypoplastic verte...	ORPHA:1782
Coffin-Lowry Syndrome	Craniofacial hyperostosis, Short distal phalanx of finger, Pseudoepiphyses of the metacarpals, Ky...	ORPHA:192
Symphalangism, Proximal, 1A	Distal symphalangism of hands, Carpal synostosis, Aplasia/Hypoplasia of the middle phalanges of t...	OMIM:185800
Acrootoocular Syndrome	Small hypothenar eminence, Short toe, Sandal gap, Short finger, Decreased response to growth horm...	ORPHA:2980
Hydrocephalus-Obesity-Hypogonadism Syndrome	Short 4th metacarpal, Short neck, Cubitus valgus, Abnormality of the hypothalamus-pituitary axis,...	ORPHA:2183
Spondylometaphyseal Dysplasia, Axial	Platyspondyly, Rhizomelia, Proximal femoral metaphyseal irregularity, Splenomegaly, Narrow greate...	OMIM:602271
Kyphomelic Dysplasia	Platyspondyly, Limitation of joint mobility, Radial bowing, Flared metaphysis, Micromelia, Dumbbe...	OMIM:211350
Frontometaphyseal Dysplasia 2	Congenital hip dislocation, Broad thumb, Finger clinodactyly, Elbow contracture, Flared metaphysi...	OMIM:617137
Angel-Shaped Phalango-Epiphyseal Dysplasia	Hip osteoarthritis, Abnormal epiphysis morphology, Short 1st metacarpal, Joint hypermobility, Hip...	ORPHA:63442
Rothmund-Thomson Syndrome Type 1	Abnormal trabecular bone morphology, Osteopenia, Aplastic anemia, Patellar hypoplasia, Hypogonadi...	ORPHA:221008
Schneckenbecken Dysplasia	Platyspondyly, Hypoplastic scapulae, Short ribs, Narrow vertebral interpedicular distance, Short ...	OMIM:269250
Opsismodysplasia	Metaphyseal cupping, Hypoplasia of the odontoid process, Rhizomelia, Hypoplastic vertebral bodies...	OMIM:258480
Exudative Vitreoretinopathy 1	Retinal exudate, Exudative vitreoretinopathy, Ectopic fovea, Posterior vitreous detachment, Vitre...	OMIM:133780
Spondylometaphyseal Dysplasia, Schmidt Type	Platyspondyly, Abnormal ilium morphology, Irregular iliac crest, Scoliosis, Short iliac bones, Ab...	ORPHA:93316
X-Linked Hypophosphatemia	Limitation of joint mobility, Genu valgum, Bowing of the long bones, Tooth abscess, Genu varum, V...	ORPHA:89936
Dyggve-Melchior-Clausen Disease	Epiphyseal dysplasia, Hypoplasia of the odontoid process, Genu valgum, Short neck, Beaking of ver...	ORPHA:239
Dermatosparaxis Ehlers-Danlos Syndrome	Osteopenia, Rickets, Osteomalacia, Joint stiffness, Avascular necrosis of the capital femoral epi...	ORPHA:1901
Spondyloepimetaphyseal Dysplasia, Guo-Campeau Type	Clinodactyly of the 2nd finger, Micrognathia, Pes planus, Diaphyseal undertubulation, Patellar di...	OMIM:620663
Florid Cemento-Osseous Dysplasia	Abnormal trabecular bone morphology, Multiple bony cystic lesions, Mandibular osteomyelitis, Abno...	ORPHA:83451
Atelosteogenesis Type I	Platyspondyly, Rhizomelia, Abnormal pancreatic duct morphology, Absent or minimally ossified vert...	ORPHA:1190
Spondyloepiphyseal Dysplasia Tarda, X-Linked	Platyspondyly, Hip osteoarthritis, Hump-shaped mound of bone in central and posterior portions of...	OMIM:313400
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome	Micrognathia, Cryptorchidism, Metaphyseal chondrodysplasia, Hallux valgus, Pes planus, Brachydact...	ORPHA:166035
Rothmund-Thomson Syndrome Type 2	Aplastic anemia, Patellar aplasia, Aplasia/hypoplasia involving bones of the upper limbs, Cryptor...	ORPHA:221016
2Q37 Microdeletion Syndrome	Small hand, Toe syndactyly, Finger syndactyly, Tracheomalacia, Supernumerary nipple, Bilateral si...	ORPHA:1001
Bent Bone Dysplasia Syndrome 2	Platyspondyly, Osteopenia, Hypoplastic acetabulae, Short 1st metacarpal, Short tibia, Hypoplastic...	OMIM:620076
Hypoparathyroidism-Retardation-Dysmorphism Syndrome	Patchy osteosclerosis, Hypocalcemic seizures, Hyperphosphatemia, Hypocalcemia	OMIM:241410
Otospondylomegaepiphyseal Dysplasia, Autosomal Dominant	Epiphyseal dysplasia, Premature osteoarthritis, Platyspondyly, Enlarged epiphyses	OMIM:184840
Mucopolysaccharidosis, Type Ivb	Platyspondyly, Constricted iliac wing, Hypoplasia of the odontoid process, Kyphosis, Hypoplasia o...	OMIM:253010
Spondyloepiphyseal Dysplasia, Kimberley Type	Platyspondyly, Abnormal epiphysis morphology, Micromelia, Osteoarthritis	ORPHA:93283
Infantile Systemic Hyalinosis	Osteopenia, Micromelia, Aplasia/Hypoplasia of the thymus, Camptodactyly of finger, Osteomalacia, ...	ORPHA:2176
Abnormal Hair, Joint Laxity, And Developmental Delay	Short fifth metatarsal, Increased carrying angle, Joint hypermobility, 2-3 toe syndactyly, Clinod...	OMIM:261990
Femoral-Facial Syndrome	Toe syndactyly, Micrognathia, Humeroradial synostosis, Cryptorchidism, Limited elbow movement, Ra...	OMIM:134780
Osteogenesis Imperfecta, Type Xiii	Platyspondyly, Wide distal femoral metaphysis, Recurrent fractures, Femoral bowing, Wide pubic sy...	OMIM:614856
Developmental And Epileptic Encephalopathy 95	Short distal phalanx of finger, Short fourth metatarsal, Multiple joint contractures, Cryptorchid...	OMIM:618143
Ventricular Extrasystoles With Syncopal Episodes-Perodactyly-Robin Sequence Syndrome	Short distal phalanx of finger, Short toe, Camptodactyly of finger, Short 4th metacarpal, Aplasia...	ORPHA:3201
Moebius Syndrome	Hand clenching, Abnormal pelvic girdle bone morphology, Clinodactyly, Radial deviation of finger,...	OMIM:157900
Spondylocarpotarsal Synostosis Syndrome	Epiphyseal dysplasia, Hypoplasia of the odontoid process, Carpal synostosis, C2-C3 subluxation, T...	OMIM:272460
Dysosteosclerosis	Absent paranasal sinuses, Sclerosis of hand bone, Micrognathia, Increased intervertebral space, A...	OMIM:224300
Bardet-Biedl Syndrome 17	Postaxial foot polydactyly, Hypogonadism, Mesoaxial hand polydactyly, Polydactyly, Brachydactyly,...	OMIM:615994
Spondylocamptodactyly Syndrome	Platyspondyly, Scoliosis, Camptodactyly of finger	ORPHA:3180
Ghosal Hematodiaphyseal Dysplasia	Myelofibrosis, Increased bone mineral density, Hyperostosis cranialis interna	OMIM:231095
Hereditary Hypophosphatemic Rickets With Hypercalciuria	Decreased circulating parathyroid hormone level, Osteomalacia, Pathologic fracture, Hypophosphate...	ORPHA:157215
Pachydermoperiostosis	Small hand, Clubbing of toes, Limitation of joint mobility, Abnormal epiphysis morphology, Palmop...	ORPHA:2796
Osteogenesis Imperfecta, Type X	Platyspondyly, Osteopenia, Rhizomelia, Micromelia, Genu valgum, Fibular bowing, Micrognathia, Tib...	OMIM:613848
Hypophosphatasia, Adult	Rickets, Osteomalacia, Pathologic fracture, Abnormal foot morphology, Increased susceptibility to...	OMIM:146300
Mucopolysaccharidosis Type 4	Platyspondyly, Abnormal epiphysis morphology, Spinal canal stenosis, Genu valgum, Abnormal metaph...	ORPHA:582
Achondroplasia	Thoracolumbar kyphosis, Hip joint hypermobility, Rhizomelia, Kyphosis, Cervical spinal canal sten...	ORPHA:15
Robin Sequence With Cleft Mandible And Limb Anomalies	Short tibia, Micrognathia, Talipes equinovarus, Short hallux, Small thenar eminence, Mesomelic ar...	OMIM:268305
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities	Epiphyseal dysplasia, Platyspondyly, Thoracolumbar kyphosis, Hypoplasia of the capital femoral ep...	OMIM:617425
Cantú Syndrome	Platyspondyly, Short distal phalanx of finger, Finger syndactyly, Deep plantar creases, Ovoid ver...	ORPHA:1517
Spondyloepiphyseal Dysplasia Congenita	Platyspondyly, Hypoplasia of the odontoid process, Kyphosis, Atlantoaxial instability, Limited hi...	OMIM:183900
Tibial Hemimelia	Aplasia of the 2nd metacarpal, Short tibia, Radial club hand, Cutaneous finger syndactyly, Crypto...	ORPHA:93322
Paget Disease Of Bone 3	Patchy osteosclerosis, Fractures of the long bones, Osteolysis	OMIM:167250
Osteogenesis Imperfecta, Type Xvii	Platyspondyly, Thin metacarpal cortices, Recurrent fractures, Joint hypermobility, Kyphoscoliosis...	OMIM:616507
Avascular Necrosis Of Femoral Head, Primary, 2	Platyspondyly, Avascular necrosis of the capital femoral epiphysis	OMIM:617383
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3	Vertebral segmentation defect, Talipes equinovarus, Short long bone, Vertebral fusion, Patent duc...	OMIM:618845
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2	Epiphyseal dysplasia, Osteopenia, Hypoplastic ilia, Platyspondyly, Flared metaphysis, Carpal syno...	OMIM:615349
Autosomal Recessive Stickler Syndrome	Epiphyseal dysplasia, Platyspondyly, Abnormal epiphysis morphology, Genu valgum, Micrognathia, Jo...	ORPHA:250984
Variegate Porphyria, Childhood-Onset	Short metacarpal, Short finger	OMIM:620483
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type	Delayed epiphyseal ossification, Metaphyseal cupping, Micromelia, Wide distal femoral metaphysis,...	OMIM:613320
Exudative Vitreoretinopathy 2, X-Linked	Exudative vitreoretinopathy, Peripheral retinal avascularization, Retinal vascular tortuosity, Su...	OMIM:305390
Metaphyseal Dysostosis, Impaired Intellectual Development, And Conductive Deafness	Genu valgum, Broad foot, Carpal bone hypoplasia, Metaphyseal dysplasia, Broad phalanx, Short foot...	OMIM:250420
Osteogenesis Imperfecta, Type Ii	Platyspondyly, Abnormal pelvic girdle bone morphology, Broad long bones, Tibial bowing, Limb unde...	OMIM:166210
Stüve-Wiedemann Syndrome	Limitation of joint mobility, Genu valgum, Bowing of the long bones, Talipes equinovarus, Flexion...	ORPHA:3206
Oncogenic Osteomalacia	Pathologic fracture, Fibrous dysplasia of the bones, Hypocalcemia, Increased susceptibility to fr...	ORPHA:352540
Pseudodiastrophic Dysplasia	Platyspondyly, Rhizomelia, Elbow dislocation, Phalangeal dislocation, Talipes equinovarus, Scoliosis	ORPHA:85174
Acrofacial Dysostosis, Palagonia Type	Small hand, Finger syndactyly, Abnormal form of the vertebral bodies, Micrognathia, Short 4th met...	ORPHA:1787
Reese Retinal Dysplasia	Retinal dysplasia, Remnants of the hyaloid vascular system	OMIM:266400
Chromosome 17P13.3, Telomeric, Duplication Syndrome	3-4 finger syndactyly, Short toe, Short tibia, Absent hallux, Oligodactyly, Ectrodactyly, Contrac...	OMIM:612576
Hypophosphatemic Rickets, Autosomal Dominant	Abnormality of the lower limb, Hypophosphatemic rickets, Rickets, Osteomalacia	OMIM:193100
Pseudodiastrophic Dysplasia	Platyspondyly, Rhizomelia, Hypoplasia of the odontoid process, Elbow dislocation, Tongue-like lum...	OMIM:264180
Short-Rib Thoracic Dysplasia 18 With Polydactyly	Platyspondyly, Radial bowing, Micromelia, Preaxial polydactyly, Vertebral wedging, Micrognathia, ...	OMIM:617866
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies	Osteopenia, Hypercalcemia, Craniosynostosis	OMIM:614732
Rhyns Syndrome	Osteopenia, Radial bowing, Decreased response to growth hormone stimulation test, Brachydactyly, ...	OMIM:602152
Short Stature, Impaired Intellectual Development, Microcephaly, Hypotonia, And Ocular Anomalies	Prominent fingertip pads, Overlapping toe, Bilateral camptodactyly, Short fourth metatarsal, Hip ...	OMIM:619557
Hyperparathyroidism-Jaw Tumor Syndrome	Elevated circulating parathyroid hormone level, Pancreatic adenocarcinoma, Abnormal parathyroid m...	ORPHA:99880
Autosomal Dominant Hypocalcemia	Optic atrophy, Hyperphosphatemia, Hypomagnesemia, Hypocalcemia, Reduced bone mineral density	ORPHA:428
Oculoskeletodental Syndrome	Hypercalcemia, Hypocalcemia	ORPHA:557003
Mccune-Albright Syndrome	Increased circulating cortisol level, Increased circulating prolactin concentration, Osteomalacia...	ORPHA:562
Retinitis Pigmentosa With Or Without Skeletal Anomalies	Short distal phalanx of finger, Micrognathia, Metaphyseal chondrodysplasia, Brachydactyly, Metaph...	OMIM:250410
Hypercalcemia, Infantile, 2	Hypophosphatemia, Hypercalcemia	OMIM:616963
Parathyroid Carcinoma	Elevated circulating parathyroid hormone level, Parathyroid carcinoma, Pancreatic adenocarcinoma,...	ORPHA:143
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1	Hyperphosphatemia, Hyperostosis, Angioid streaks of the fundus, Subperiosteal bone formation, Cal...	OMIM:211900
Ring Chromosome 10 Syndrome	Hypocalcemia	ORPHA:1438
Geroderma Osteodysplasticum	Platyspondyly, Osteopenia, Femoral bowing, Increased susceptibility to fractures, Tibial bowing, ...	OMIM:231070
Osteopetrosis, Autosomal Recessive 5	Optic atrophy, Cranial hyperostosis, Hyperbilirubinemia, Hypocalcemia, Optic disc pallor, Osteope...	OMIM:259720
Stuve-Wiedemann Syndrome 2	Bowing of the long bones, Thrombocytopenia, Short long bone, Camptodactyly, Scoliosis	OMIM:619751
Acrocephalopolydactyly	Genu recurvatum, Hepatosplenomegaly, Short neck, Limb undergrowth, Brachydactyly, Short long bone	ORPHA:221054
Sponastrime Dysplasia	Delayed epiphyseal ossification, Shallow acetabular fossae, Genu valgum, Broad foot, Pes planus, ...	ORPHA:93357
Familial Osteodysplasia, Anderson Type	Aplastic clavicle, Bifid femur, Kyphosis, Elbow dislocation, Abnormal form of the vertebral bodie...	ORPHA:2769
Spondylometaphyseal Dysplasia, Algerian Type	Platyspondyly, Hypoplasia of proximal radius, Short tubular bones of the hand, Flared femoral met...	OMIM:184253
Paget Disease Of Bone 2, Early-Onset	Fractures of the long bones, Sclerosis of skull base, Increased susceptibility to fractures, Oste...	OMIM:602080
Lethal Kniest-Like Dysplasia	Platyspondyly, Hypoplastic ilia, Flared metaphysis, Broad long bones, Abnormal cartilage morpholo...	ORPHA:2347
Tuberous Sclerosis Complex	Pituitary adenoma, Pheochromocytoma, Parathyroid hyperplasia, Carcinoid tumor, Parathyroid adenom...	ORPHA:805
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type	Platyspondyly, Osteopenia, Flared metaphysis, Decreased fibular diameter, Micrognathia, Decreased...	OMIM:616897
Familial Isolated Hypoparathyroidism	Hypocalcemia	ORPHA:2238
X-Linked Agammaglobulinemia	Osteomyelitis, Hypocalcemia, Arthritis	ORPHA:47
Fanconi Renotubular Syndrome 3	Rickets, Bowing of the legs	OMIM:615605
Autosomal Recessive Primary Microcephaly	Abnormal cortical bone morphology	ORPHA:2512
Hypotonia-Cystinuria Syndrome	Hypocalcemia	OMIM:606407
Spondyloepimetaphyseal Dysplasia, X-Linked, With Hypomyelinating Leukodystrophy	Platyspondyly, Metaphyseal cupping of metacarpals, Hypoplasia of the odontoid process, Cone-shape...	OMIM:300232
Ivic Syndrome	Carpal synostosis, Hypoplasia of deltoid muscle, Limited elbow movement, Radioulnar synostosis, C...	OMIM:147750
Congenital Absence/Hypoplasia Of Fingers Excluding Thumb, Unilateral	Short metacarpal, Abnormal metacarpal morphology, Short thumb, Duplication of the distal phalanx ...	ORPHA:973
Peters-Plus Syndrome	Square pelvis bone, Micrognathia, Cryptorchidism, Broad foot, Limited elbow movement, Short neck,...	OMIM:261540
Occipital Horn Syndrome	Synostosis of joints, Osteomalacia, Humerus varus, Genu valgum, Pes planus, Abnormal fibula morph...	ORPHA:198
Dyssegmental Dysplasia, Rolland-Desbuquois Type	Joint contracture of the hand, Limitation of joint mobility, Micromelia, Equinovarus deformity, B...	OMIM:224400
Dent Disease	Delayed epiphyseal ossification, Rickets, Bulging epiphyses, Osteomalacia, Enlargement of the wri...	ORPHA:1652
Spondyloepimetaphyseal Dysplasia, Aggrecan Type	Platyspondyly, Rhizomelia, Broad thumb, Short finger, Irregular epiphyses, Lumbar hyperlordosis, ...	OMIM:612813
Thanatophoric Dysplasia Type 1	Platyspondyly, Hypoplastic ilia, Kyphosis, Micromelia, Joint stiffness, Femoral bowing, Bowing of...	ORPHA:1860
Rothmund-Thomson Syndrome	Abnormal trabecular bone morphology, Osteopenia, Aplasia/Hypoplasia of the radius, Aplastic anemi...	ORPHA:2909
Hypophosphatasia, Infantile	Platyspondyly, Unossified vertebral bodies, Metaphyseal cupping, Micromelia, Increased susceptibi...	OMIM:241500
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia	Delayed epiphyseal ossification, Hypoplasia of the odontoid process, Dislocation of the femoral h...	OMIM:616007
Pitt-Hopkins Syndrome	Small hand, Finger clinodactyly, Supernumerary nipple, Narrow foot, Cryptorchidism, Single transv...	ORPHA:2896
Vitreoretinal Degeneration, Snowflake Type	Snowflake vitreoretinal degeneration, Retinal detachment, Retinal dots, Optically empty vitreous	OMIM:193230
Trisomy 8P	Short fifth metatarsal, Short 1st metacarpal, Clinodactyly of the 2nd finger, Clinodactyly of hal...	ORPHA:264450
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes	Hypokalemia, Hypocalcemia, Hypomagnesemia	OMIM:175500
Basal Cell Nevus Syndrome 1	Palmar pits, Short distal phalanx of the thumb, Plantar pits, Vertebral wedging, Ovarian carcinom...	OMIM:109400
Pallister-Hall Syndrome	Toe syndactyly, Postaxial foot polydactyly, Distal shortening of limbs, Cryptorchidism, Hip dislo...	OMIM:146510
Tyrosinemia Type 1	Rickets of the lower limbs, Splenomegaly	ORPHA:882
Yunis-Varon Syndrome	Hypoplastic scapulae, Toe syndactyly, Clinodactyly, Micrognathia, Cryptorchidism, Bilateral singl...	OMIM:216340
Gracile Bone Dysplasia	Hypocalcemia, Decreased skull ossification	OMIM:602361
Neurodevelopmental Disorder With Ataxia, Hypotonia, And Microcephaly	Short 3rd metacarpal, Short thumb, Short 4th toe, 2-4 toe cutaneous syndactyly, Short 5th metacar...	OMIM:618569
Metaphyseal Chondrodysplasia, Jansen Type	Osteopenia, Metaphyseal cupping, Pathologic fracture, Micrognathia, Knee flexion contracture, Hip...	OMIM:156400
Sanjad-Sakati Syndrome	Patchy osteosclerosis, Hyperphosphatemia, Hypocalcemia	ORPHA:2323
Gillessen-Kaesbach-Nishimura Syndrome	Micrognathia, Decreased skull ossification, Narrow greater sciatic notch, Short neck, Ulnar devia...	OMIM:263210
ERI1-related disease	Platyspondyly, Osteopenia, Slender metacarpals, Oligodactyly, Clinodactyly of the 5th finger, Lim...	OMIM:608739
Brachydactyly, Type B2	Short distal phalanx of finger, Cutaneous syndactyly of toes, Distal symphalangism of hands, Shor...	OMIM:611377
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities	Osteopenia, Optic atrophy, Hypocalcemia, Hypokalemia, Hyponatremia, Calcinosis	OMIM:617913
Schnitzler Syndrome	Increased bone mineral density, Arthritis	ORPHA:37748
Focal Dermal Hypoplasia	Toe syndactyly, Midclavicular aplasia, Supernumerary nipple, Cryptorchidism, Foot polydactyly, Sh...	OMIM:305600
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects	Enlarged metaphyses, Genu valgum, Micrognathia, Radioulnar synostosis, Talipes equinovarus, Broad...	OMIM:245600
Granulomatous Slack Skin	Hypercalcemia	ORPHA:33111
Thanatophoric Dysplasia	Platyspondyly, Abnormal ilium morphology, Kyphosis, Micromelia, Joint stiffness, Joint hypermobil...	ORPHA:2655
Nicolaides-Baraitser Syndrome	Broad distal phalanx of finger, Sandal gap, Broad 2nd toe, Cryptorchidism, Single transverse palm...	OMIM:601358
Weill-Marchesani Syndrome 1	Broad phalanges of the hand, Spinal canal stenosis, Joint stiffness, Lumbar hyperlordosis, Brachy...	OMIM:277600
Osteopetrosis, Autosomal Recessive 2	Optic atrophy, Mandibular osteomyelitis, Cranial hyperostosis, Osteomyelitis, Osteopetrosis, Decr...	OMIM:259710
Anonychia-Ectrodactyly	Aplasia of metacarpal bones, Split hand	OMIM:106900
Microcephalic Osteodysplastic Primordial Dwarfism, Type I	Delayed epiphyseal ossification, Enlarged metaphyses, Elbow dislocation, Micrognathia, Cryptorchi...	OMIM:210710
Congenital Disorder Of Glycosylation, Type Iig	Small hand, Shallow acetabular fossae, Giant platelets, Micrognathia, Cryptorchidism, Talipes equ...	OMIM:611209
Genetic Recurrent Myoglobinuria	Hyperkalemia, Hyperphosphatemia, Hypocalcemia, Highly elevated creatine kinase	ORPHA:99845
Otopalatodigital Syndrome Type 1	Synostosis of carpal bones, Limitation of joint mobility, Increased bone mineral density, Abnorma...	ORPHA:90650
Spondyloenchondrodysplasia With Immune Dysregulation	Platyspondyly, Rheumatoid arthritis, Short iliac bones, Scoliosis, Lymphopenia, Sclerosis of skul...	OMIM:607944
Fibrochondrogenesis 1	Hypoplastic ischia, Platyspondyly, Joint contracture of the hand, Small hand, Hypoplastic scapula...	OMIM:228520
Generalized Pustular Psoriasis	Hypoalbuminemia, Hypocalcemia, Hyponatremia, Arthritis, Elevated circulating C-reactive protein c...	ORPHA:247353
Colchicine Poisoning	Hypomagnesemia, Hypocalcemia, Hypokalemia, Hyponatremia, Hypophosphatemia, Abnormal blood ion con...	ORPHA:31824
Fibrochondrogenesis 2	Platyspondyly, Hypoplastic ilia, Metaphyseal cupping, Micrognathia, Short ribs, Hypoplastic pubic...	OMIM:614524
Lowry-Wood Syndrome	Epiphyseal dysplasia, Platyspondyly, Abnormal epiphysis morphology, Elbow dislocation, Irregular ...	ORPHA:1824
Pseudoaminopterin Syndrome	Synostosis of carpal bones, Overlapping toe, Micrognathia, Cryptorchidism, Limited elbow movement...	ORPHA:221120
Platyspondylic Dysplasia, Torrance Type	Platyspondyly, Short distal phalanx of finger, Hypoplastic scapulae, Metaphyseal cupping, Microme...	ORPHA:85166
Spondyloepiphyseal Dysplasia Tarda, Autosomal Dominant	Platyspondyly, Hypoplasia of the odontoid process, Avascular necrosis of the capital femoral epip...	OMIM:184100
Chondrodysplasia, Blomstrand Type	Advanced tarsal ossification, Advanced ossification of carpal bones, Generalized osteosclerosis	OMIM:215045
Tarsal-Carpal Coalition Syndrome	Distal symphalangism of hands, Radial deviation of finger, Short 1st metacarpal, Carpal synostosi...	OMIM:186570
Refsum Disease, Classic	Short fourth metatarsal, Pes cavus	OMIM:266500
Schimke Immunoosseous Dysplasia	Platyspondyly, Osteopenia, Shallow acetabular fossae, Elevated circulating thyroid-stimulating ho...	OMIM:242900
Refsum Disease	Abnormal epiphysis morphology, Abnormal foot morphology, Pes cavus, Splenomegaly, Short metacarpa...	ORPHA:773
Intellectual Developmental Disorder With Short Stature, Facial Anomalies, And Speech Defects	Short clavicles, Short 4th metacarpal, Microretrognathia, Joint hypermobility	OMIM:606220
Brachydactyly, Type A1, C	Short distal phalanx of finger, Short 1st metacarpal, Short middle phalanx of the 2nd finger, Fib...	OMIM:615072
Peroxisome Biogenesis Disorder 12A (Zellweger)	Cholelithiasis, Abnormal cortical bone morphology, Patent ductus arteriosus, Wide anterior fontanel	OMIM:614886
Oculoskeletodental Syndrome	Elbow flexion contracture, Hypercalcemia, Hypocalcemia	OMIM:618440
Hypophosphatasia	Craniosynostosis, Hypercalcemia, Recurrent fractures	ORPHA:436
Gm1-Gangliosidosis, Type Iii	Platyspondyly, Hypoplastic acetabulae, Pes cavus, Splenomegaly, Flared iliac wing, Anterior beaki...	OMIM:230650
Acromesomelic Dysplasia 3	Aplasia of the proximal phalanx of the 2nd finger, Widened proximal tibial metaphyses, Elevated c...	OMIM:609441
Nivelon-Nivelon-Mabille Syndrome	Micromelia, Trapezoidal vertebral body, Brachydactyly, Short phalanx of finger, Short metacarpal	OMIM:600092
Frank-Ter Haar Syndrome	Osteopenia, Kyphosis, Flared metaphysis, Cortical irregularity, Micrognathia, Anterior concavity ...	OMIM:249420
Lenz-Majewski Hyperostotic Dwarfism	Aplastic clavicle, Limitation of joint mobility, Finger syndactyly, Cranial hyperostosis, Facial ...	ORPHA:2658
Timothy Syndrome	Hypocalcemia	OMIM:601005
Autosomal Dominant Kenny-Caffey Syndrome	Hyperphosphatemia, Hypocalcemic tetany, Decreased skull ossification, Papilledema, Calvarial oste...	ORPHA:93325
Achondrogenesis, Type Ii	Microretrognathia, Broad long bones, Short tubular bones of the hand, Hypoplastic iliac wing, Abs...	OMIM:200610
Odontochondrodysplasia 2 With Hearing Loss And Diabetes	Precocious puberty, Osteopenia, Type I diabetes mellitus, Platyspondyly, Scoliosis, Short toe, Cl...	OMIM:619269
Osteopetrosis, Autosomal Recessive 8	Optic atrophy, Osteopetrosis	OMIM:615085
Stickler Syndrome Type 1	Platyspondyly, Abnormal epiphysis morphology, Abnormal vertebral epiphysis morphology, Joint hype...	ORPHA:90653
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii	Osteomalacia, Micrognathia, Cryptorchidism, Bilateral single transverse palmar creases, Short nec...	ORPHA:2636
Small Cell Carcinoma Of The Bladder	Hypercalcemia	ORPHA:284400
Campomelic Dysplasia	Small abnormally formed scapulae, Hip dislocation, Kyphosis, Tracheomalacia, 11 pairs of ribs, Fe...	ORPHA:140
Hyperoxaluria, Primary, Type I	Optic atrophy, Choroidal neovascularization, Retinal crystals, Pathologic fracture, Hyperoxaluria...	OMIM:259900
Congenital Disorder Of Glycosylation, Type Ig	Retinal detachment, Hypocalcemia	OMIM:607143
Hypercholanemia, Familial 1	Rickets	OMIM:607748
Bile Acid Conjugation Defect 1	Rickets	OMIM:619232
Cole-Carpenter Syndrome 2	Lambdoidal craniosynostosis, Osteopenia, Coronal craniosynostosis, Microretrognathia, Platyspondy...	OMIM:616294
Osteogenesis Imperfecta, Type Iv	Femoral bowing present at birth, straightening with time, Kyphosis, Increased susceptibility to f...	OMIM:166220
Spondylodysplastic Ehlers-Danlos Syndrome	Abnormal vertebral morphology, Subluxation of the small joints of the hand, Dysplasia of the femo...	ORPHA:536471
Laron Syndrome	Decreased serum insulin-like growth factor 1, Delayed menarche, Limb undergrowth, Short long bone	OMIM:262500
Acrocraniofacial Dysostosis	Short distal phalanx of finger, Ulnar deviation of finger, Broad thumb, Short 1st metacarpal, Abn...	ORPHA:949
Bangstad Syndrome	Type I diabetes mellitus, Deviation of finger, Increased circulating cortisol level, Abnormality ...	ORPHA:1227
Coloboma Of Optic Nerve	Retinal detachment, Optic disc coloboma	OMIM:120430
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome	Rhizomelic arm shortening, Lymphopenia, Leukopenia, Short humerus, Reticulocytopenia, B lymphocyt...	ORPHA:508542
Combined Oxidative Phosphorylation Deficiency 47	Platyspondyly, Toe syndactyly, Cryptorchidism, Cone-shaped epiphyses of the distal phalanges of t...	OMIM:618958
Spondylo-Ocular Syndrome	Platyspondyly, Joint hypermobility, Short neck, Pes planus, Osteoporosis, Abnormal intervertebral...	ORPHA:85194
Achondroplasia	Radial bowing, Narrow vertebral interpedicular distance, Genu varum, Femoral bowing, Limited elbo...	OMIM:100800
Intellectual Developmental Disorder, X-Linked, Syndromic, Snyder-Robinson Type	Long hallux, Cryptorchidism, Single transverse palmar crease, Narrow palm, Long palm, Talipes equ...	OMIM:309583
Bcard Syndrome	Platyspondyly, Osteopenia, Contracture of the proximal interphalangeal joint of the 2nd finger, P...	OMIM:612394
Short Fifth Metacarpals-Insulin Resistance Syndrome	Short 5th metacarpal, Hyperinsulinemia, Spherocytosis, Splenomegaly	ORPHA:66518
Primary Intestinal Lymphangiectasia	Hypoalbuminemia, Hypoproteinemia, Hypocalcemia, Hypomagnesemia	ORPHA:90362
Diastrophic Dysplasia	Joint hypermobility, Increased bone mineral density, Joint stiffness, Camptodactyly of finger	ORPHA:628
Pfeiffer Syndrome Type 1	Toe syndactyly, Broad thumb, Finger syndactyly, Bicoronal synostosis, Aplasia/Hypoplasia of the t...	ORPHA:93258
Spondyloepiphyseal Dysplasia-Brachydactyly-Speech Disorder Syndrome	Aplasia/Hypoplasia involving the pelvis, Broad long bones, Rhizo-meso-acromelic limb shortening, ...	ORPHA:163654
Hyperparathyroidism, Transient Neonatal	Osteopenia, Fractured rib, Hyperparathyroidism, Metaphyseal spurs, Femoral bowing, Splenic cyst, ...	OMIM:618188
Infantile Myofibromatosis	Limitation of joint mobility, Hypercalcemia, Osteolysis, Bone cyst	ORPHA:2591
45,X/46,Xy Mixed Gonadal Dysgenesis	Bilateral cryptorchidism, Decreased serum testosterone concentration, Micrognathia, Streak ovary,...	ORPHA:1772
Stuve-Wiedemann Syndrome 1	Short tibia, Micrognathia, Metaphyseal rarefaction, Bowing of the long bones, Talipes, Hypoplasti...	OMIM:601559
Dahlberg-Borer-Newcomer Syndrome	Hypocalcemia	ORPHA:1563
Tricho-Retino-Dento-Digital Syndrome	Short 5th metacarpal, Abnormality of the hand, Brachydactyly	ORPHA:1264
Cleidocranial Dysplasia 1	Hypoplastic scapulae, Absent paranasal sinuses, Hypoplastic iliac wing, Micrognathia, Delayed pub...	OMIM:119600
Celiac Disease, Susceptibility To, 1	Osteoporosis, Rickets, Hypocalcemia	OMIM:212750
Spondylometaphyseal Dysplasia, Sedaghatian Type	Platyspondyly, Cone-shaped epiphysis, Rhizomelic arm shortening, Iliac crest serration, Metaphyse...	ORPHA:93317
Renal Tubular Acidosis, Proximal	Rickets, Osteomalacia	OMIM:179830
Thanatophoric Dysplasia Type 2	Platyspondyly, Limitation of joint mobility, Micromelia, Kyphosis, Joint hypermobility, Brachydac...	ORPHA:93274
Oculodentodigital Dysplasia	Toe syndactyly, Palmoplantar keratoderma, Finger syndactyly, Cranial hyperostosis, Camptodactyly ...	ORPHA:2710
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia	Rickets, Hepatosplenomegaly, Reticulocytosis, Decreased mean corpuscular volume, Hemolytic anemia	OMIM:611590
Catel-Manzke Syndrome	Hyperphalangy of the 2nd finger, Short toe, Ulnar deviation of the 2nd finger, Genu valgum, Micro...	OMIM:616145
Proteus-Like Syndrome	Genu recurvatum, Lower limb asymmetry, Thymus hyperplasia, Abnormality of the parathyroid gland, ...	ORPHA:2969
Thanatophoric Dysplasia, Type I	Small abnormally formed scapulae, Hypoplastic ilia, Platyspondyly, Flared metaphysis, Femoral bow...	OMIM:187600
Blue Diaper Syndrome	Hypercalcemia, Hyperphosphatemia	ORPHA:94086
Osteopetrosis, Autosomal Recessive 7	Abnormal trabecular bone morphology, Splenomegaly, Femur fracture, Osteopetrosis, Anemia	OMIM:612301
Brachyolmia Type 3	Platyspondyly, Radial deviation of finger, Clinodactyly, Proximal femoral metaphyseal irregularit...	OMIM:113500
Fanconi Renotubular Syndrome 2	Osteopenia, Rickets, Elevated circulating parathyroid hormone level, Osteomalacia, Recurrent frac...	OMIM:613388
Nance-Horan Syndrome	Short metacarpal	ORPHA:627
Hyperparathyroidism, Neonatal Self-Limited Primary, With Hypercalciuria	Hypercalcemia	OMIM:239199
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome	Atlantoaxial dislocation, Dysplasia of the femoral head, Micrognathia, Arachnodactyly, Radioulnar...	ORPHA:536467
Mucolipidosis Iii Alpha/Beta	Shallow acetabular fossae, Limitation of joint mobility, Irregular carpal bones, Spondylolisthesi...	OMIM:252600
Cholestasis, Progressive Familial Intrahepatic, 1	Osteopenia, Cholelithiasis, Rickets, Splenomegaly	OMIM:211600
Robinow Syndrome, Autosomal Recessive 1	Bifid distal phalanx of toe, Small hand, Broad thumb, Clinodactyly, Radial bowing, Thoracic hemiv...	OMIM:268310
Trichothiodystrophy 6, Nonphotosensitive	Coronal craniosynostosis, Increased bone mineral density	OMIM:616943
Very Long Chain Acyl-Coa Dehydrogenase Deficiency	Increased circulating free fatty acid level, Hyperammonemia, Hypocalcemia, Elevated circulating c...	ORPHA:26793
Spondyloocular Syndrome	Platyspondyly, Osteopenia, Overlapping toe, Arachnodactyly, Femur fracture, Long toe, Pes planus,...	OMIM:605822
Autosomal Recessive Malignant Osteopetrosis	Optic nerve compression, Hypocalcemia, Hypophosphatemia, Osteopetrosis, Craniosynostosis, Reduced...	ORPHA:667
Diarrhea 10, Protein-Losing Enteropathy Type	Hypoalbuminemia, Hypomagnesemia, Hypocalcemia, Hyponatremia, Hypertriglyceridemia	OMIM:618183
Chromosome 8Q21.11 Deletion Syndrome	Micrognathia, Cryptorchidism, Short neck, Absent palmar crease, Camptodactyly, Short metacarpal, ...	OMIM:614230
Thanatophoric Dysplasia, Type Ii	Small abnormally formed scapulae, Hypoplastic ilia, Platyspondyly, Micromelia, Flared metaphysis,...	OMIM:187601
Mitochondrial Trifunctional Protein Deficiency	Pigmentary retinopathy, Hypocalcemia	ORPHA:746
Cholera	Hypokalemia, Abnormal blood ion concentration, Hyponatremia, Hypocalcemia	ORPHA:173
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type	Platyspondyly, Metaphyseal cupping of metacarpals, Rhizomelia, Abnormality of the calcaneus, Hypo...	ORPHA:163966
Pyknoachondrogenesis	Abnormal intramembranous ossification, Craniofacial hyperostosis, Unossified sacrum, Short iliac ...	ORPHA:3003
Brachyolmia, Maroteaux Type	Platyspondyly, Scoliosis, Abnormal form of the vertebral bodies	ORPHA:93302
Bacterial Toxic-Shock Syndrome	Hypoalbuminemia, Elevated circulating creatinine concentration, Osteomyelitis, Hypocalcemia, Elev...	ORPHA:36234
Paternal Uniparental Disomy Of Chromosome 1	Abnormal retinal morphology on macular OCT, Increased blood urea nitrogen, Macular dystrophy, Cra...	ORPHA:251004
Enthesitis-Related Juvenile Idiopathic Arthritis	Sacroiliac arthritis, Abnormal thoracic spine morphology, Abnormal metatarsal morphology, Knee os...	ORPHA:85438
Chilton-Okur-Chung Neurodevelopmental Syndrome	Short fifth metatarsal, Slender finger, Cone-shaped epiphysis, Short finger, Micrognathia, Crypto...	OMIM:619841
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia	Osteoporosis, Type I diabetes mellitus, Rickets	OMIM:560000
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss	Rickets	OMIM:602722
Stickler Syndrome, Type I	Abnormal femoral epiphysis morphology, Platyspondyly, Joint stiffness, Irregular femoral epiphysi...	OMIM:108300
Renal Tubular Acidosis Iii	Rickets, Osteomalacia	OMIM:267200
Osteoporosis-Pseudoglioma Syndrome	Platyspondyly, Osteopenia, Kyphosis, Pathologic fracture, Increased susceptibility to fractures, ...	OMIM:259770
Neuroleptic Malignant Syndrome	Hyperphosphatemia, Hypomagnesemia, Hypocalcemia, Hyperuricemia, Elevated circulating creatine kin...	ORPHA:94093
Campomelic Dysplasia	Delayed epiphyseal ossification, Hypoplastic scapulae, Hypoplastic cervical vertebrae, Shortening...	OMIM:114290
Diffuse Neonatal Hemangiomatosis	Hypercalcemia	ORPHA:2123
Trisomy 20P	Platyspondyly, Finger syndactyly, Abnormal form of the vertebral bodies, Preaxial hand polydactyl...	ORPHA:261318
Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures	Short distal phalanx of finger, Pseudohypoparathyroidism, Cubitus valgus, Short neck, Brachydacty...	OMIM:617157
Cartilage-Hair Hypoplasia	Limited elbow extension, Hypocalcemia, Abnormality of retinal pigmentation, Joint hypermobility, ...	ORPHA:175
Bartsocas-Papas Syndrome 1	Hypoplastic scapulae, Absent thumb, Short thumb, Bilateral cryptorchidism, Oligodactyly, Hypoplas...	OMIM:263650
Duane-Radial Ray Syndrome	Radial deviation of the hand, Absent thumb, Short thumb, Sandal gap, Shoulder dislocation, Preaxi...	OMIM:607323
Gm1 Gangliosidosis	Platyspondyly, Coarse metaphyseal trabecularization, Abnormal epiphysis morphology, Abnormal diap...	ORPHA:354
Dyssegmental Dysplasia, Silverman-Handmaker Type	Hypoplastic ilia, Anisospondyly, Limitation of joint mobility, Micromelia, Broad long bones, Club...	ORPHA:1865
Craniometaphyseal Dysplasia	Craniofacial hyperostosis, Osteopetrosis	ORPHA:1522
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness	Increased bone mineral density, Osteopetrosis	OMIM:617306
Hypocalciuric Hypercalcemia, Familial, Type Iii	Hypermagnesemia, Hypophosphatemia, Hypercalcemia, Osteomalacia	OMIM:600740
Spondyloepimetaphyseal Dysplasia, Genevieve Type	Platyspondyly, Short femoral neck, Flared metaphysis, Irregular epiphyses, Small epiphyses, Joint...	OMIM:610442
Pheochromocytoma--Islet Cell Tumor Syndrome	Hypertensive retinopathy, Hypercalcemia	OMIM:171420
Osteogenesis Imperfecta	Abnormal tibia morphology, Enlarged vertebral pedicles, Genu valgum, Micrognathia, Decreased skul...	ORPHA:666
Fanconi-Bickel Syndrome	Bowing of the long bones, Osteopenia, Rickets, Diabetes mellitus	ORPHA:2088
Microphthalmia With Limb Anomalies	Synostosis of joints, Toe syndactyly, Synostosis of carpal bones, Postaxial foot polydactyly, Sho...	ORPHA:1106
Juvenile Nephropathic Cystinosis	Hypouricemia, Elevated circulating creatinine concentration, Hypocalcemic tetany, Hypocalcemia, H...	ORPHA:411634
Osteogenesis Imperfecta, Type I	Osteopenia, Femoral bowing, Increased susceptibility to fractures, Biconcave flattened vertebrae,...	OMIM:166200
Hall-Riggs Syndrome	Platyspondyly, Abnormal epiphysis morphology, Joint stiffness, Limb undergrowth, Brachydactyly, S...	ORPHA:2107
Diaphyseal Medullary Stenosis With Malignant Fibrous Histiocytoma	Patchy osteosclerosis, Osteopenia, Diaphyseal cortical sclerosis, Fractures of the long bones, Pa...	OMIM:112250
Camurati-Engelmann Disease	Sclerosis of skull base, Optic nerve compression, Cortical thickening of long bone diaphyses, Inc...	OMIM:131300
Osteopetrosis With Renal Tubular Acidosis	Optic atrophy, Hypocalcemia, Elevated circulating creatine kinase concentration, Retinal atrophy,...	ORPHA:2785
Faciocardiomelic Syndrome	Osteopenia, Slender long bone, Hypoplastic pelvis, Micrognathia, Polydactyly, Cuboid-shaped verte...	OMIM:612731
Mucopolysaccharidosis, Type Vii	Platyspondyly, Thoracolumbar kyphosis, Hypoplasia of the odontoid process, Limitation of joint mo...	OMIM:253220
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome	Finger syndactyly, Aplasia of the proximal phalanges of the hand, Micrognathia, Cryptorchidism, H...	ORPHA:2256
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Hypoalbuminemia, Hypomagnesemia, Osteomyelitis, Hypocalcemia, Decreased circulating prealbumin co...	ORPHA:37042
Townes-Brocks Syndrome 1	Broad thumb, Preaxial hand polydactyly, 3-4 toe syndactyly, Pseudoepiphyses of second metacarpal,...	OMIM:107480
Secondary Hypoparathyroidism Due To Impaired Parathormon Secretion	Abnormality of the parathyroid gland, Secondary hyperparathyroidism	ORPHA:140286
Beemer-Ertbruggen Syndrome	Increased bone mineral density	ORPHA:1237
Non-Functioning Paraganglioma	Hypertensive retinopathy, Hypercalcemia	ORPHA:94080
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly	Hypoproteinemia, Hypocalcemia	OMIM:235255
Craniometadiaphyseal Osteosclerosis With Hip Dysplasia	Coarse metaphyseal trabecularization, Flared metaphysis, Ectopic anterior pituitary gland, Sandwi...	OMIM:620558
Craniotubular Dysplasia, Ikegawa Type	Platyspondyly, Broad femoral neck, Sclerosis of skull base, Increased intervertebral space, Diaph...	OMIM:619727
Cystinosis	Type I diabetes mellitus, Rickets, Hypothyroidism, Delayed puberty, Nephrogenic diabetes insipidus	ORPHA:213
Hypercalcemia, Infantile, 1	Hypercalcemia	OMIM:143880
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii	Ivory epiphyses, Hypoplastic scapulae, Radial bowing, Hypoplastic iliac wing, Type II diabetes me...	OMIM:210720
Majeed Syndrome	Osteomyelitis, Increased susceptibility to fractures, Synovitis, Increased bone mineral density, ...	ORPHA:77297
Schwartz-Jampel Syndrome	Arthrogryposis multiplex congenita, Elbow dislocation, Genu valgum, Micrognathia, Hip contracture...	ORPHA:800
Camptodactyly Syndrome, Guadalajara Type 3	Osteopenia, Small hand, Broad femoral neck, Distal shortening of limbs, Thickened cortex of long ...	ORPHA:488434
Neu-Laxova Syndrome	Osteopenia, Rickets, Micromelia, Osteomalacia, Hypogonadism, Micrognathia, Broad foot, Large hand...	ORPHA:2671
Double Outlet Right Ventricle	Hypocalcemia	ORPHA:3426
Rajab Interstitial Lung Disease With Brain Calcifications 1	Hypoalbuminemia, Osteopenia, Rickets, Hypocalcemia, Joint hypermobility, Thin bony cortex, Unconj...	OMIM:613658
Mucolipidosis Ii Alpha/Beta	Bullet-shaped phalanges of the hand, Atlantoaxial dislocation, Hypoplastic scapulae, Hypoplasia o...	OMIM:252500
14Q22Q23 Microdeletion Syndrome	Toe syndactyly, Finger syndactyly, Diabetes insipidus, Short 5th metacarpal, Micrognathia, Crypto...	ORPHA:264200
Familial Hypocalciuric Hypercalcemia	Renal hypophosphatemia, Hypermagnesemia, Osteomalacia, Hypocalcemic seizures, Hypercalcemia	ORPHA:405
Turner Syndrome Due To Structural X Chromosome Anomalies	Hyperinsulinemia, Genu valgum, Micrognathia, Type II diabetes mellitus, Short neck, Pes planus, S...	ORPHA:99413
Hypocalciuric Hypercalcemia, Familial, Type I	Hypermagnesemia, Hypercalcemia	OMIM:145980
Mosaic Monosomy X	Hyperinsulinemia, Genu valgum, Micrognathia, Type II diabetes mellitus, Short neck, Pes planus, S...	ORPHA:99228
Monosomy X	Hyperinsulinemia, Genu valgum, Micrognathia, Type II diabetes mellitus, Short neck, Pes planus, S...	ORPHA:99226
Turner Syndrome	Hyperinsulinemia, Genu valgum, Micrognathia, Type II diabetes mellitus, Short neck, Pes planus, S...	ORPHA:881
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome	Hypocalcemic seizures, Hypocalcemia, Rod-cone dystrophy	ORPHA:2237
Osteopathia Striata-Cranial Sclerosis Syndrome	Increased bone mineral density, Osteopetrosis, Coarse metaphyseal trabecularization, Facial hyper...	ORPHA:2780
Ulbright-Hodes Syndrome	Abnormal forearm bone morphology, Fibular aplasia, Micrognathia, Humeroradial synostosis, Short h...	ORPHA:3404
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome	Hypocalcemic tetany, Hypocalcemia, Hypomagnesemia	ORPHA:73224
Werner Syndrome	Osteoporosis, Joint stiffness, Abnormality of retinal pigmentation, Increased bone mineral density	ORPHA:902
Uremic Pruritus	Renal hypophosphatemia, Hypermagnesemia, Hypercalcemia, Increased blood urea nitrogen	ORPHA:94059
Digeorge Syndrome	Cholelithiasis, Scoliosis, Parathyroid hypoplasia, Micrognathia, Splenomegaly, Ovarian cyst, Trun...	OMIM:188400
Osteopetrosis, Autosomal Recessive 3	Optic nerve compression, Diaphyseal sclerosis, Osteopetrosis, Cranial hyperostosis	OMIM:259730
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 2	Joint stiffness, Bicoronal synostosis, 11 pairs of ribs, Joint hypermobility, Brachydactyly, Shor...	OMIM:619184
Floating-Harbor Syndrome	Broad thumb, Short 1st metacarpal, Ivory epiphyses of the distal phalanges of the hand, Short 5th...	OMIM:136140
Cardiomyopathy-Cataract-Hip Spine Disease Syndrome	Platyspondyly, Joint stiffness, Abnormal intervertebral disk morphology, Osteoarthritis	ORPHA:1345
Moebius Syndrome	Aplasia/Hypoplasia of the radius, Finger syndactyly, Breast aplasia, Absent hand, Aplasia/Hypopla...	ORPHA:570
Rhabdoid Tumor	Hypercalcemia	ORPHA:69077
Tricho-Dento-Osseous Syndrome	Increased bone mineral density	ORPHA:3352
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome	Hypoproteinemia, Hypocalcemia	ORPHA:1655
Garg-Mishra Progeroid Syndrome	Platyspondyly, Slender long bone, Slender metacarpals, Micrognathia, Ovoid vertebral bodies, Broa...	OMIM:620601
Spondyloenchondrodysplasia	Platyspondyly, Hypoplastic ilia, Short distal phalanx of finger, Granuloma, Decreased response to...	ORPHA:1855
Thymic Neuroendocrine Tumor	Osteopenia, Hypercalcemia	ORPHA:97289
Hypomagnesemia 3, Renal	Increased circulating beta-C-terminal telopeptide concentration, Hyperphosphatemia, Rickets, Hypo...	OMIM:248250
Myhre Syndrome	Precocious puberty, Craniofacial hyperostosis, Platyspondyly, Abnormal epiphysis morphology, Hypo...	ORPHA:2588
Trichorhinophalangeal Syndrome, Type Ii	Osteopenia, 2-4 toe syndactyly, Bilateral cryptorchidism, Avascular necrosis of the capital femor...	OMIM:150230
Marshall Syndrome	Platyspondyly, Hypoplastic ilia, Radial bowing, Irregular femoral epiphysis, Clinodactyly of the ...	OMIM:154780
Hypocalciuric Hypercalcemia, Familial, Type Ii	Hypermagnesemia, Hypercalcemia	OMIM:145981
Cranioectodermal Dysplasia 1	Hypocalcemia, Joint hypermobility, Sagittal craniosynostosis, Osteoporosis, Retinal dystrophy	OMIM:218330
Pycnodysostosis	Coronal craniosynostosis, Increased susceptibility to fractures, Joint hypermobility, Generalized...	ORPHA:763
Fanconi Renotubular Syndrome 1	Rickets, Osteomalacia	OMIM:134600
Baller-Gerold Syndrome	Lambdoidal craniosynostosis, Abnormal vertebral morphology, Carpal synostosis, Micrognathia, Pate...	OMIM:218600
Velocardiofacial Syndrome	Hypocalcemia, Retinal vascular tortuosity	OMIM:192430
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly	Postaxial polydactyly, Cryptorchidism, Brachydactyly, Short long bone	OMIM:615633
Brachyolmia Type 2	Platyspondyly	OMIM:613678
Hyperparathyroidism 2 With Jaw Tumors	Hypercalcemia	OMIM:145001
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly	Rhizomelia, Microretrognathia, Short tibia, Unicoronal synostosis, Preaxial polydactyly, Hypoplas...	OMIM:616300
Ulnar-Mammary Syndrome	Ectopic posterior pituitary, Hypoplastic scapulae, Short 5th toe, Anterior pituitary hypoplasia, ...	OMIM:181450
Aspartylglucosaminuria	Abnormal vertebral morphology, Joint stiffness, Abnormal cortical bone morphology, Splenomegaly, ...	ORPHA:93
Schimke Immuno-Osseous Dysplasia	Platyspondyly, Shallow acetabular fossae, Abnormal proportion of naive CD4 T cells, Lymphopenia, ...	ORPHA:1830
Morquio Syndrome C	Platyspondyly	OMIM:252300
Primary Hyperoxaluria	Optic atrophy, Choroidal neovascularization, Hyperoxaluria, Retinopathy, Generalized osteoscleros...	ORPHA:416
Lowe Oculocerebrorenal Syndrome	Platyspondyly, Joint contracture of the hand, Finger swelling, Rickets, Wrist swelling, Kyphosis,...	OMIM:309000
Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction	Rickets, Recurrent fractures	OMIM:268315
Ethylene Glycol Poisoning	Hyperkalemia, Hypocalcemia	ORPHA:31826
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency	Hypercalcemia, Elevated creatine kinase after exercise	ORPHA:284426
Pallister-Hall Syndrome	Broad thumb, Toe syndactyly, Radial bowing, Polydactyly affecting the 4th finger, Hypopituitarism...	ORPHA:672
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly	Cone-shaped epiphysis, Metaphyseal spurs, Preaxial polydactyly, Acetabular spurs, Femoral bowing,...	OMIM:613091
Bile Acid Synthesis Defect, Congenital, 1	Rickets, Splenomegaly	OMIM:607765
Pearson Syndrome	Pigmentary retinopathy, Hypomagnesemia, Hypocalcemia, Hypokalemia, Hypophosphatemia, Hyperalaninemia	ORPHA:699
Xylt1-Cdg	Broad thumb, Clinodactyly, Flared metaphysis, Joint hypermobility, Short clavicles, Pes planus, S...	ORPHA:370930
Short-Rib Thoracic Dysplasia 4 With Or Without Polydactyly	Scoliosis, Brachydactyly, Short long bone, Polydactyly	OMIM:613819
Osteogenesis Imperfecta, Type Xv	Platyspondyly, Bowing of limbs due to multiple fractures, Joint hypermobility, Scoliosis, Recurre...	OMIM:615220
Hyperparathyroidism, Neonatal Severe	Hypophosphatemia, Hypercalcemia, Recurrent fractures, Calcinosis	OMIM:239200
Charge Syndrome	Lymphopenia, Micrognathia, Cryptorchidism, Absent radius, Hypoparathyroidism, Bilateral talipes e...	OMIM:214800
Alg12-Cdg	Sandal gap, Ulnar deviation of the wrist, Overlapping fingers, Clinodactyly of the 5th finger, Mi...	ORPHA:79324
Short-Rib Thoracic Dysplasia 20 With Polydactyly	Short tibia, Preaxial polydactyly, Micrognathia, Absent gallbladder, Fibular hypoplasia, Decrease...	OMIM:617925
Infantile Liver Failure Syndrome 3	Platyspondyly, Abnormality of the epiphysis of the femoral head, Abnormal acetabulum morphology, ...	OMIM:618641
Occipital Horn Syndrome	Platyspondyly, Genu valgum, Limited elbow extension, Short humerus, Joint hypermobility, Short cl...	OMIM:304150
Glucose-Galactose Malabsorption	Hypercalcemia, Hypernatremia	ORPHA:35710
Gaucher Disease	Osteopenia, Abnormal macular morphology, Increased circulating ferritin concentration, Osteolysis...	ORPHA:355
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young	Rickets, Diabetes mellitus	OMIM:616026
Trichothiodystrophy	Osteopenia, Macular degeneration, Multiple joint contractures, Retinal degeneration, Craniosynost...	ORPHA:33364
Dysostosis, Stanescu Type	Increased bone mineral density, Massively thickened long bone cortices	ORPHA:1798
Metaphyseal Chondromatosis With D-2-Hydroxyglutaric Aciduria	Lumbar scoliosis, Short neck, Abnormal bone ossification, Metaphyseal dysplasia, Genu varum, Irre...	ORPHA:99646
Igg4-Related Thyroid Disease	Hypocalcemia	ORPHA:64744
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type	Rickets	OMIM:219900
Cog1-Cdg	Osteopenia, Rhizomelia, Hepatosplenomegaly, Micrognathia, Butterfly vertebrae, Vertebral segmenta...	ORPHA:263508
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans	Platyspondyly, Rhizomelia, Brain abscess, Kyphosis, Lumbar hyperlordosis, Femoral bowing, Tibial ...	OMIM:616482
Dental Anomalies And Short Stature	Platyspondyly, Herniation of intervertebral nuclei, Intervertebral space narrowing, Narrow verteb...	OMIM:601216
Alpha-Mannosidosis, Infantile Form	Platyspondyly, Osteopenia, Cranial hyperostosis, Talipes valgus, Joint stiffness, Genu valgum, He...	ORPHA:309282
Gm1 Gangliosidosis Type 1	Platyspondyly, Beaking of vertebral bodies T12-L3, Hepatosplenomegaly, Broad long bone diaphyses,...	ORPHA:79255
Lethal Congenital Contracture Syndrome 10	Stiff neck, Overlapping fingers, Femoral bowing, Micrognathia, Thoracic scoliosis, Talipes equino...	OMIM:617022
Coffin-Lowry Syndrome	Bifid sternum, Kyphosis, Single transverse palmar crease, Tapered finger, Pes planus, Drumstick t...	OMIM:303600
Acrofrontofacionasal Dysostosis 1	Short distal phalanx of finger, Broad thumb, Short metacarpal, Acetabular dysplasia	OMIM:201180
Congenital Bile Acid Synthesis Defect Type 2	Rickets, Extramedullary hematopoiesis	ORPHA:79303
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome	Hyperbilirubinemia, Hypocalcemia, Hyperextensibility of the finger joints	ORPHA:163979
Poems Syndrome	Sclerosis of foot bone, Sclerosis of skull base, Papilledema, Sclerosis of hand bone	ORPHA:2905
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly	Genu valgum, Splenomegaly, Short ribs, Brachydactyly, Short long bone, Postaxial hand polydactyly...	OMIM:615630
Infection-Related Hemolytic Uremic Syndrome	Hyponatremia, Hyperkalemia, Septic arthritis, Hypocalcemia	ORPHA:544482
Mucopolysaccharidosis, Type X	Platyspondyly, Irregular acetabular roof, Genu valgum, Beaking of vertebral bodies, Hyperlordosis...	OMIM:619698
Hennekam Syndrome	Craniosynostosis, Hypocalcemia, Camptodactyly of finger	ORPHA:2136
Gitelman Syndrome	Hypermagnesemia, Hypomagnesemia, Gout, Hypocalcemia, Hypokalemia	ORPHA:358
Desmosterolosis	Increased bone mineral density, Osteopetrosis	ORPHA:35107
Short-Rib Thoracic Dysplasia 12	Hypoplastic scapulae, Short toe, Short finger, Bowing of the arm, Splenomegaly, Broad foot, Short...	OMIM:269860
Raine Syndrome	Increased bone mineral density, Hypophosphatemia, Arthrogryposis multiplex congenita, Subperioste...	OMIM:259775
Myhre Syndrome	Platyspondyly, Cone-shaped epiphysis, Limitation of joint mobility, Clinodactyly, Short toe, Shor...	OMIM:139210
Oculocerebrorenal Syndrome Of Lowe	Osteomalacia, Genu valgum, Micrognathia, Cryptorchidism, Patellar dislocation, Hip dislocation, A...	ORPHA:534
Dyssegmental Dysplasia, Silverman-Handmaker Type	Anisospondyly, Micromelia, Micrognathia, Cryptorchidism, Bowing of the long bones, Talipes equino...	OMIM:224410
Saethre-Chotzen Syndrome	Lambdoidal craniosynostosis, Coronal craniosynostosis, Partial duplication of the distal phalanx ...	OMIM:101400
22Q11.2 Deletion Syndrome	Optic atrophy, Multiple suture craniosynostosis, Retinal arteriolar tortuosity, Hypocalcemia, Joi...	ORPHA:567
Holt-Oram Syndrome	Hypoplastic scapulae, Short forearm, Radial bowing, Elbow dislocation, Micrognathia, Ulnar deviat...	OMIM:142900
Multiple Endocrine Neoplasia, Type Iv	Hyperparathyroidism, Pituitary adenoma, Hashimoto thyroiditis, Hypothyroidism, Carcinoid tumor, E...	OMIM:610755
Multiple Myeloma	Osteopenia, Pathologic fracture, Elevated circulating creatinine concentration, Hyperproteinemia,...	ORPHA:29073
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly	Short distal phalanx of finger, Hypoplastic scapulae, Micromelia, Polydactyly, Bowing of the long...	OMIM:614091
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1	Progressive congenital scoliosis, Osteopenia, Congenital hip dislocation, Platyspondyly, Joint hy...	OMIM:225400
Pheochromocytoma	Hypertensive retinopathy, Hypercalcemia	OMIM:171300
Floating-Harbor Syndrome	Precocious puberty, Clinodactyly, Short thumb, Avascular necrosis of the capital femoral epiphysi...	ORPHA:2044
Craniofacioskeletal Syndrome	Hypocalcemia	OMIM:300712
Late-Onset Isolated Acth Deficiency	Hyponatremia, Hypercalcemia, Generalized bone demineralization, Hyperuricemia	ORPHA:199299
Leukocyte Adhesion Deficiency, Type Iii	Osteopetrosis	OMIM:612840
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency	Platyspondyly, Adrenal cortical sclerosis, Growth arrest lines, Abnormal pelvic girdle bone morph...	OMIM:102700
Hypopigmentation, Organomegaly, And Delayed Myelination And Development	Osteopetrosis	OMIM:618541
Sporadic Pheochromocytoma/Secreting Paraganglioma	Hypertensive retinopathy, Hypercalcemia	ORPHA:276621
Otopalatodigital Syndrome Type 2	Synostosis of carpal bones, Camptodactyly of finger, Carpal synostosis, Increased bone mineral de...	ORPHA:90652
Pycnodysostosis	Increased bone mineral density, Osteolytic defects of the distal phalanges of the hand	OMIM:265800
Exercise-Induced Malignant Hyperthermia	Hyperkalemia, Hyperphosphatemia, Hypocalcemia, Elevated circulating creatine kinase concentration	ORPHA:466650
Desmosterolosis	Joint contracture of the hand, Abnormal circulating cholesterol concentration, Generalized osteos...	OMIM:602398
Birt-Hogg-Dubé Syndrome	Medullary thyroid carcinoma, Parathyroid adenoma	ORPHA:122
Ellis-Van Creveld Syndrome	Postaxial foot polydactyly, Hypoplastic iliac wing, Acetabular spurs, Genu valgum, Cryptorchidism...	OMIM:225500
Pancreatic Triacylglycerol Lipase Deficiency	Osteoporosis, Iron deficiency anemia, Rickets, Osteomalacia	ORPHA:309031
Kindler Epidermolysis Bullosa	Palmoplantar keratoderma, Finger syndactyly, Camptodactyly of finger, Short 5th metacarpal, Short...	ORPHA:2908
Alkaptonuria	Calcification of cartilage, Joint stiffness, Hemolytic anemia, Black pigment gallstones, Increase...	ORPHA:56
12Q14 Microdeletion Syndrome	Osteopoikilosis	ORPHA:94063
Stickler Syndrome	Platyspondyly, Microretrognathia, Abnormal epiphysis morphology, Proximal femoral epiphysiolysis,...	ORPHA:828
Bartter Syndrome, Type 1, Antenatal	Osteopenia, Hyperchloriduria, Increased serum prostaglandin E2, Hypomagnesemia, Hypokalemia, Hype...	OMIM:601678
Liver Disease, Severe Congenital	Increased circulating ferritin concentration, Hyperbilirubinemia, Hypocalcemia, Hyperammonemia, J...	OMIM:619991
Atypical Werner Syndrome	Limitation of joint mobility, Sclerosis of hand bone, Abnormality of retinal pigmentation, Retina...	ORPHA:79474
Alg9-Cdg	Rhizomelia, Microretrognathia, Flared metaphysis, Micrognathia, Talipes equinovarus, Narrow great...	ORPHA:79328
Chand Syndrome	Short fifth metatarsal	ORPHA:1401
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies	Hypomagnesemia, Elbow flexion contracture, Hypocalcemia, Knee flexion contracture, Joint hypermob...	OMIM:619503
Multiple Endocrine Neoplasia, Type Iia	Thyroid C cell hyperplasia, Hyperparathyroidism, Increased circulating cortisol level, Pheochromo...	OMIM:171400
Spinal Cord Injury	Hypercalcemia	ORPHA:90058
Fanconi-Bickel Syndrome	Rickets, Osteomalacia	OMIM:227810
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly	Preaxial polydactyly, Acetabular spurs, Femoral bowing, Short ribs, Postaxial polydactyly, Brachy...	OMIM:615503
Ablepharon-Macrostomia Syndrome	Toe syndactyly, Cutaneous finger syndactyly, Talipes equinovarus, Hypoplastic nipples, Camptodact...	OMIM:200110
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome	Osteopenia, Joint hypermobility, Hypertriglyceridemia, Craniosynostosis, Hypercalcemia	ORPHA:369837
Erdheim-Chester Disease	Increased bone mineral density, Osteolysis, Osteomyelitis	ORPHA:35687
Hereditary Pheochromocytoma-Paraganglioma	Retinal capillary hemangioma, Hypertensive retinopathy, Hypercalcemia	ORPHA:29072
Hemolytic Uremic Syndrome, Atypical, 8, With Rhizomelic Short Stature	Lymphopenia, Leukopenia, Neutropenia, Short long bone, Anemia, Schistocytosis, Thrombocytopenia, ...	OMIM:301110
Multiple Endocrine Neoplasia, Type I	Thyroid adenoma, Pituitary adenoma, Increased circulating cortisol level, Pituitary prolactin cel...	OMIM:131100
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly	Platyspondyly, Polysyndactyly of hallux, Postaxial polysyndactyly of foot, Preaxial hand polydact...	OMIM:263520
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities	Optic nerve hypoplasia, Hypocalcemia, Joint hypermobility	OMIM:620330
Distal Renal Tubular Acidosis	Rickets, Osteomalacia, Reduced bone mineral density, Increased susceptibility to fractures, Hemol...	ORPHA:18
Cystinosis, Nephropathic	Male hypogonadism, Rickets, Genu valgum, Hypophosphatemic rickets, Splenomegaly, Primary hypothyr...	OMIM:219800
Gaucher Disease Type 3	Increased bone mineral density, Increased susceptibility to fractures, Osteolysis	ORPHA:77261
Vipoma	Follicular thyroid carcinoma, Pituitary adenoma, Increased circulating cortisol level, Increased ...	ORPHA:97282
Monosomy 13Q34	Hypercalcemia	ORPHA:96168
Addison Disease	Hyperuricemia, Hyponatremia, Generalized bone demineralization, Hyperkalemia, Hypercalcemia, Incr...	ORPHA:85138
Wilson Disease	Osteomalacia, Splenomegaly, Joint hypermobility, Anemia, Osteoarthritis, Thrombocytopenia, Hypopa...	OMIM:277900
Grfoma	Cholelithiasis, Intestinal carcinoid, Pituitary adenoma, Increased circulating cortisol level, In...	ORPHA:97261
Encephalocraniocutaneous Lipomatosis	Craniofacial hyperostosis, Bone cyst, Osteolysis, Abnormal cartilage morphology	ORPHA:2396
Somatostatinoma	Pituitary adenoma, Increased circulating cortisol level, Increased circulating prolactin concentr...	ORPHA:97283
Robinow Syndrome, Autosomal Dominant 1	Mesomelia, Bifid distal phalanx of toe, Small hand, Broad thumb, Rhizomelia, Clinodactyly, Radial...	OMIM:180700
Sclerosteosis 1	Optic atrophy, Facial palsy secondary to cranial hyperostosis, Sclerotic scapulae, Papilledema, C...	OMIM:269500
Acute Adrenal Insufficiency	Hyperuricemia, Hyponatremia, Hyperkalemia, Hypercalcemia, Increased circulating renin level	ORPHA:95409
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome	Hypercalcemia	ORPHA:476126
Infantile Nephropathic Cystinosis	Abnormality of thyroid physiology, Rickets	ORPHA:411629
Congenital Disorder Of Glycosylation, Type Iiaa	Bilateral talipes equinovarus, Short long bone, Knee flexion contracture, Patent ductus arteriosu...	OMIM:620454
Glucagonoma	Pituitary adenoma, Increased circulating cortisol level, Increased circulating prolactin concentr...	ORPHA:97280
Ppoma	Cholelithiasis, Intestinal carcinoid, Pituitary adenoma, Increased circulating cortisol level, In...	ORPHA:97278
Microsporidiosis	Brain abscess, Abnormality of the parathyroid gland, Osteomyelitis, Abnormality of the spleen, De...	ORPHA:2552
Generalized Arterial Calcification Of Infancy	Calcification of the auricular cartilage, Osteomalacia, Adrenal calcification, Abnormal hip joint...	ORPHA:51608
Short-Rib Thoracic Dysplasia 21 Without Polydactyly	Small pituitary gland, Trident pelvis, Short humerus, Bowed humerus, Brachydactyly, Short long bo...	OMIM:619479
Short-Rib Thoracic Dysplasia 15 With Polydactyly	Cone-shaped epiphysis, Splenomegaly, Short ribs, Postaxial polydactyly, Short clavicles, Aplasia ...	OMIM:617088
T-Cell Immunodeficiency With Thymic Aplasia	Hypocalcemic tetany	ORPHA:83471
Fontaine Progeroid Syndrome	Platyspondyly, Coronal craniosynostosis, Short distal phalanx of finger, Absent nipple, Micrognat...	OMIM:612289
Neurofibromatosis, Type I	Pheochromocytoma, Tibial pseudarthrosis, Genu valgum, Parathyroid adenoma, Scoliosis	OMIM:162200
Williams Syndrome	Synostosis of joints, Osteopenia, Abnormal circulating lipid concentration, Retinal arteriolar to...	ORPHA:904
Immunodeficiency 82 With Systemic Inflammation	Reduced natural killer cell count, Osteomalacia, Osteomyelitis, Decreased proportion of naive T c...	OMIM:619381
Aspartylglucosaminuria	Platyspondyly, Spondylolysis, Pathologic fracture, Spondylolisthesis, Joint hypermobility, Beakin...	OMIM:208400
Primary Fanconi Renotubular Syndrome	Hypophosphatemic rickets, Increased susceptibility to fractures, Osteomalacia	ORPHA:3337
Johanson-Blizzard Syndrome	Joint hypermobility, Conjugated hyperbilirubinemia, Hypocalcemia, Increased VLDL cholesterol conc...	OMIM:243800
Heterotaxy, Visceral, 1, X-Linked	Congenital hip dislocation, Block vertebrae, Absence of the sacrum, Polysplenia, Short long bone,...	OMIM:306955
Williams-Beuren Syndrome	Osteopenia, Retinal arteriolar tortuosity, Joint hypermobility, Radioulnar synostosis, Osteoporos...	OMIM:194050
Schinzel-Giedion Midface Retraction Syndrome	Thickened cortex of long bones, Sclerosis of skull base, Increased density of long bones	OMIM:269150
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome	Abnormal vertebral morphology, Platyspondyly, Abnormality of the vertebral column, Ectrodactyly, ...	ORPHA:2273
Sarcoidosis	Hypercalcemia, Bone cyst	ORPHA:797
Beckwith-Wiedemann Syndrome	Polycythemia, Abnormal pancreas morphology, Adrenocortical cytomegaly, Cryptorchidism, Pseudohypo...	ORPHA:116
Pmm2-Cdg	Platyspondyly, Osteopenia, Elevated circulating thyroid-stimulating hormone concentration, Increa...	ORPHA:79318
Sotos Syndrome	Ankle flexion contracture, Hip contracture, Joint hypermobility, Bilateral camptodactyly, Cranios...	ORPHA:821

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Pth

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Pth.

There are 7 publications which use IMPC produced mice or data.

Title	Journal	IMPC Allele	PubMed ID
A Genome-Wide Screen in Mice To Identify Cell-Extrinsic Regulators of Pulmonary Metastatic Colonisation.	G3 (Bethesda, Md.) (June 2020)	Ncf4^tm2Pth Pth^{tm1a(EUCOMM)Wtsi} Pth1r^{tm1a(EUCOMM)Hmgu} Pth2r^{tm2a(KOMP)Wtsi} Pthlh^{tm1a(KOMP)Wtsi}	PMC7263671
Functional analysis of candidate genes from genome-wide association studies of hearing.	Hearing research (January 2020)	Pthlh^{tm1a(KOMP)Wtsi}	PMC6996162
High-throughput phenotyping reveals expansive genetic and structural underpinnings of immune variation.	Nature immunology (December 2019)	Pth^{tm1a(EUCOMM)Wtsi} Pth1r^{tm1a(EUCOMM)Hmgu}	PMC7338221
Large-scale neuroanatomical study uncovers 198 gene associations in mouse brain morphogenesis.	Nature communications (August 2019)	Pth^{tm1a(EUCOMM)Wtsi} Pth1r^{tm1a(EUCOMM)Hmgu} Pth2r^{tm2a(KOMP)Wtsi} Pthlh^{tm1a(KOMP)Wtsi}	PMC6671969
Mouse screen reveals multiple new genes underlying mouse and human hearing loss.	PLoS biology (April 2019)	Pth^{tm1a(EUCOMM)Wtsi} Pth1r^{tm1a(EUCOMM)Hmgu} Pthlh^{tm1a(KOMP)Wtsi} Pth2r^{tm2a(KOMP)Wtsi}	PMC6459510
Genome wide in vivo mouse screen data from studies to assess host regulation of metastatic colonisation.	Scientific data (September 2017)	Pth^{tm1a(EUCOMM)Wtsi} Pth1r^{tm1a(EUCOMM)Hmgu} Pth2r^{tm2a(KOMP)Wtsi} Pthlh^{tm1a(KOMP)Wtsi}	PMC5827107
Highly variable penetrance of abnormal phenotypes in embryonic lethal knockout mice.	Wellcome open research (January 2016)	Pth1r^{tm1a(EUCOMM)Hmgu}	PMC5159622

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MGI Allele	Allele Type	Produced
Pth^{tm1e(EUCOMM)Wtsi}	Targeted, non-conditional allele	ES Cells
Pth^{tm1(KOMP)Vlcg}	Reporter-tagged deletion allele (with selection cassette)	ES Cells
Pth^{tm1a(EUCOMM)Wtsi}	KO first allele (reporter-tagged insertion with conditional potential)	Mice, Targeting vectors, ES Cells

Sequence

Guides

Sequence	Guide sequence	pam	chr	start	stop	strand	Genome build	gRNA Concentration	Truncated Guide	Reversed	Sanger service	Guide format	Guide source

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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Gene: Pth MGI:97799

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