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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
increased bone mineral density	Pth^{tm1a(EUCOMM)Wtsi}	HOM	Early adult	9.83×10^-05
decreased circulating calcium level	Pth^{tm1a(EUCOMM)Wtsi}	HOM	Early adult	5.72×10^-06

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lacZ Expression

Expression data not available

Associated Images

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

X-ray

XRay Images Forepaw

14 Images

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X-ray

XRay Images Whole Body Lateral Orientation

14 Images

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X-ray

XRay Images Skull Lateral Orientation

14 Images

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X-ray

XRay Images Whole Body Dorso Ventral

14 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

14 Images

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Anti-nuclear antibody assay

Images

6 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 (853 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		Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures	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	Epiphyseal dysplasia, Short metacarpal, Pes planus, Ovoid vertebral bodies, Joint stiffness, Avas...	OMIM:132400
Pseudoachondroplasia	Limited hip extension, Distal joint laxity, Delayed epiphyseal ossification, Metaphyseal widening...	ORPHA:750
Spondyloepimetaphyseal Dysplasia, Irapa Type	Pes planus, Short metacarpal, Micromelia, Osteoarthritis, Limitation of joint mobility, Abnormal ...	ORPHA:93351
Osteochondrosis Of The Metatarsal Bone	Flattened metatarsal heads, Abnormality of the fifth metatarsal bone, Sclerosis of foot bone, Abn...	ORPHA:564003
Eiken Syndrome	Delayed epiphyseal ossification, Limited elbow flexion, Abnormal bone ossification, Short palm, S...	ORPHA:79106
Spondyloperipheral Dysplasia-Short Ulna Syndrome	Hypoplasia of the ulna, Broad hallux, Ovoid vertebral bodies, Talipes, Abnormality of the vertebr...	ORPHA:1856
Brachydactyly Type C	Stippling of the epiphysis of the distal phalanx of the thumb, Short metatarsal, Symphalangism af...	ORPHA:93384
Spondylometaphyseal Dysplasia, Kozlowski Type	Short tubular bones of the hand, Increased intervertebral space, Delayed epiphyseal ossification,...	ORPHA:93314
Epiphyseal Dysplasia, Multiple, 5	Epiphyseal dysplasia, Short metacarpal, Premature osteoarthritis, Coxa vara, Genu valgum, Irregul...	OMIM:607078
Brachydactyly, Type A1	Flattened metatarsal heads, Short metacarpal, Brachydactyly, Proportionate shortening of all digi...	OMIM:112500
Hypoparathyroidism, Familial Isolated, 2	Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures	OMIM:618883
Metaphyseal Dysplasia Without Hypotrichosis	Joint laxity, Metaphyseal dysplasia, Short metacarpal, Cone-shaped epiphyses of the phalanges of ...	OMIM:250460
Metaphyseal Modeling Abnormality, Skin Lesions, And Spastic Paraplegia	Increased bone mineral density	OMIM:250500
Epiphyseal Dysplasia, Multiple, 3	Epiphyseal dysplasia, Short metacarpal, Delayed epiphyseal ossification, Limited elbow extension,...	OMIM:600969
12q14 microdeletion syndrome	Osteopoikilosis	DECIPHER:76
Ghosal Hematodiaphyseal Dysplasia	Craniofacial hyperostosis, Bowing of the long bones, Splenomegaly, Abnormal tibia morphology, Abn...	ORPHA:1802
Spondyloepimetaphyseal Dysplasia, Irapa Type	Metaphyseal dysplasia, Short metacarpal, Lumbar hyperlordosis, Hypoplastic sacrum, Capitate-hamat...	OMIM:271650
Skeletal Dysplasia With Delayed Epiphyseal And Carpal Bone Ossification	Delayed epiphyseal ossification, Cone-shaped epiphysis, Short middle phalanx of finger, Delayed o...	OMIM:182255
Hypocalcemia, Autosomal Dominant 2	Abnormal blood phosphate concentration, Hypocalcemia	OMIM:615361
Multiple Epiphyseal Dysplasia Type 4	Cervical kyphosis, Micrognathia, Abnormal hand morphology, Metaphyseal widening, Flexion contract...	ORPHA:93307
Pseudopseudohypoparathyroidism	Short distal phalanx of the 3rd finger, Abnormality of the endocrine system, Short metatarsal, El...	ORPHA:79445
Hypophosphatemic Rickets, Autosomal Recessive, 1	Increased bone mineral density, Craniosynostosis, Rickets, Hypophosphatemia, Hypophosphatemic ric...	OMIM:241520
Pyknoachondrogenesis	Increased bone mineral density	OMIM:265880
Desbuquois Dysplasia 1	Triangular shaped phalanges of the hand, Short neck, Metaphyseal widening, Osteoarthritis, Short ...	OMIM:251450
Brachyolmia Type 1, Hobaek Type	Back pain, Osteopenia, Sclerotic foci of metaphyses of the elbow, Flattened proximal radial epiph...	OMIM:271530
Pseudoachondroplasia	Limited hip extension, Genu recurvatum, Delayed epiphyseal ossification, Metaphyseal widening, Os...	OMIM:177170
Pseudopseudohypoparathyroidism	Short metacarpal, Short neck, Short metatarsal, Osteoporosis, Pseudohypoparathyroidism, Brachydac...	OMIM:612463
Talo-Patello-Scaphoid Osteolysis	Osteolysis of talus, Osteolysis of scaphoids, Synovitis, Short 4th metacarpal, Osteolysis of pate...	ORPHA:50809
Talo-Patello-Scaphoid Osteolysis, Synovitis, And Short Fourth Metacarpals	Osteolysis of talus, Osteolysis of scaphoids, Synovitis, Short 4th metacarpal, Osteolysis of pate...	OMIM:609655
Chondrodysplasia Punctata, Tibia-Metacarpal Type	Micromelia, Epiphyseal stippling, Short long bone, Coronal cleft vertebrae, Short 3rd metacarpal,...	OMIM:118651
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3	Osteopenia, Achilles tendon calcification, Elevated circulating parathyroid hormone level, Parath...	OMIM:617994
Osteomesopyknosis	Increased bone mineral density	OMIM:166450
Trichorhinophalangeal Syndrome, Type Iii	Osteopenia, Short metacarpal, Avascular necrosis of the capital femoral epiphysis, Short metatars...	OMIM:190351
Epiphyseal Dysplasia, Multiple, 4	Epiphyseal dysplasia, Short metacarpal, Hypoplasia of the femoral head, Flat capital femoral epip...	OMIM:226900
Hypomagnesemia 1, Intestinal	Hypocalcemia, Hypomagnesemia	OMIM:602014
Van Buchem Disease	Increased bone mineral density, Cranial hyperostosis, Thickened cortex of long bones, Optic atrop...	OMIM:239100
Brachydactyly-Preaxial Hallux Varus Syndrome	Short metacarpal, Micrognathia, Preaxial hand polydactyly, Radial club hand, Short metatarsal, Br...	ORPHA:1278
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)	Hypocalcemia	DECIPHER:16
Wahab Syndrome	Syndactyly, Short metacarpal, Short thumb, Ankylosis, Short foot, Short palm, Clinodactyly, Campt...	OMIM:615170
Spondyloperipheral Dysplasia	Short distal phalanx of the 4th finger, Short neck, Short metatarsal, Irregular vertebral endplat...	OMIM:271700
Metaphyseal Dysplasia With Maxillary Hypoplasia With Or Without Brachydactyly	Metaphyseal dysplasia, Short middle phalanx of the 2nd finger, Multiple small vertebral fractures...	OMIM:156510
Ruvalcaba Syndrome	Short metacarpal, Micromelia, Kyphosis, Cryptorchidism, Limited elbow extension, Small hand, Shor...	OMIM:180870
Stargardt Disease 1	Macular degeneration, Retinitis pigmentosa inversa, Bull's eye maculopathy	OMIM:248200
Epiphyseal Dysplasia, Multiple, 7	Epiphyseal dysplasia, Monkey wrench femoral neck, Advanced ossification of carpal bones, Flat ace...	OMIM:617719
Osteopoikilosis And Dacryocystitis	Osteopoikilosis	OMIM:166705
Spondyloepimetaphyseal Dysplasia, Di Rocco Type	Metaphyseal dysplasia, Bowing of the legs, Reduced bone mineral density, Platyspondyly, Delayed o...	OMIM:617974
Chondrodysplasia With Joint Dislocations, Gpapp Type	Short metacarpal, Micrognathia, Recurrent patellar dislocation, Capitate-hamate fusion, Short toe...	OMIM:614078
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome	Osteopenia, Short fourth metatarsal, Short neck, Tibial metaphyseal irregularity, Coxa vara, Flat...	ORPHA:457395
Endosteal Hyperostosis, Worth Type	Craniofacial hyperostosis, Sclerotic vertebral body, Generalized osteosclerosis, Abnormal form of...	ORPHA:2790
Adamantinoma	Pathologic fracture, Hypercalcemia	ORPHA:55881
Melorheostosis, Isolated	Hyperostosis, Increased bone mineral density	OMIM:155950
Odontochondrodysplasia 1	Genu recurvatum, Micromelia, Metaphyseal widening, Short phalanx of finger, Genu varum, Short met...	OMIM:184260
Brachydactyly Type E	Short metacarpal, Aplasia/Hypoplasia of the distal phalanx of the hallux, Short metatarsal, Upper...	ORPHA:93387
Osteomesopyknosis	Increased bone mineral density, Sclerotic vertebral body, Kyphosis, Abnormal form of the vertebra...	ORPHA:2777
Rhizomelic Dysplasia, Patterson-Lowry Type	Short humerus, Short metacarpal, Rhizomelia, Short metatarsal, Coxa vara, Deformed humeral heads,...	OMIM:601438
Intermediate Osteopetrosis	Osteomyelitis, Recurrent fractures, Cortical sclerosis, Generalized osteosclerosis, Increased sus...	ORPHA:210110
Buschke-Ollendorff Syndrome	Osteopoikilosis, Flexion contracture, Joint stiffness	OMIM:166700
Dyggve-Melchior-Clausen Disease	Short neck, Metaphyseal widening, Flat glenoid fossa, Short metatarsal, Tibial bowing, Femoral bo...	OMIM:223800
Spondylometaphyseal Dysplasia, Type A4	Brachydactyly, Ovoid vertebral bodies, Coxa valga, Metaphyseal sclerosis, Metaphyseal widening, B...	OMIM:609052
Smith-Mccort Dysplasia 2	Pes planus, Short metacarpal, Enlarged interphalangeal joints, Broad femoral neck, Short neck, Br...	OMIM:615222
Brachydactyly, Type C	Triangular shaped middle phalanx of the 2nd finger, Hypersegmentation of proximal phalanx of seco...	OMIM:113100
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor	Bulging epiphyses, Bowing of the long bones, Thin bony cortex, Rickets of the lower limbs, Delaye...	OMIM:600785
Pseudohypoparathyroidism, Type Ia	Short metacarpal, Short neck, Short toe, Short metatarsal, Osteoporosis, Pseudohypoparathyroidism...	OMIM:103580
Jackson-Weiss Syndrome	Broad hallux, Calcaneonavicular fusion, Hallux varus, Craniosynostosis, Broad first metatarsal, 2...	OMIM:123150
Weismann-Netter Syndrome	Bowing of the long bones, Abnormal morphology of ulna, Abnormality of the humerus, Kyphosis, Abno...	ORPHA:3344
Ossification Of The Posterior Longitudinal Ligament Of Spine	Ectopic ossification, Increased bone mineral density	OMIM:602475
Metaphyseal Chondrodysplasia, Schmid Type	Broad proximal phalanges of the hand, Bowing of the legs, Short tubular bones of the hand, Proxim...	ORPHA:174
Acrodysostosis 2 With Or Without Hormone Resistance	Short metacarpal, Diabetes mellitus, Cryptorchidism, Short metatarsal, Advanced ossification of c...	OMIM:614613
Osteosclerosis-Ichthyosis-Premature Ovarian Failure Syndrome	Increased bone mineral density	ORPHA:75325
Brachydactyly, Preaxial, With Hallux Varus And Thumb Abduction	Short metacarpal, Short hallux, Hallux varus, Short thumb, Short metatarsal, Hitchhiker thumb, Sh...	OMIM:112450
Acrodysostosis	Hypoplasia of the ulna, Short metacarpal, Abnormal morphology of the radius, Abnormal morphology ...	ORPHA:950
Brachydactyly-Syndactyly, Zhao Type	Hallux valgus, Toe syndactyly, Short fifth metatarsal, Short middle phalanx of the 2nd finger, Sy...	ORPHA:93409
Spondylometaphyseal Dysplasia, Pagnamenta Type	Pes planus, Thin bony cortex, Rhizomelia, Femoral bowing, Platyspondyly, Thoracic kyphosis, Short...	OMIM:619638
Gnathodiaphyseal Dysplasia	Osteopenia, Bowing of the long bones, Recurrent fractures, Mandibular osteomyelitis, Scoliosis, T...	ORPHA:53697
Acromesomelic Dysplasia 1	Short metatarsal, Short phalanx of finger, Long hallux, Broad metacarpals, Joint laxity, Short me...	OMIM:602875
Hereditary Sensory And Autonomic Neuropathy Type 2	Abnormality of the knee, Hyperlordosis, Tapered finger, Osteolysis, Foot acroosteolysis, Reduced ...	ORPHA:970
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3	Osteopenia, Joint laxity, Short metacarpal, Pes planus, Camptodactyly of finger, Kyphoscoliosis, ...	OMIM:612350
Pyle Disease	Metaphyseal dysplasia, Metaphyseal widening, Hypoplastic frontal sinuses, Genu valgum, Reduced bo...	OMIM:265900
Melorheostosis With Osteopoikilosis	Complete duplication of the distal phalanges of the hand, Osteopoikilosis, Abnormal cortical bone...	ORPHA:1879
Acromicric Dysplasia	Short metacarpal, Ovoid vertebral bodies, Cone-shaped epiphysis, Short foot, Short long bone, Sho...	OMIM:102370
Hyperostosis Corticalis Generalisata	Generalized osteosclerosis, Abnormal cortical bone morphology, Cranial hyperostosis, Diaphyseal t...	ORPHA:3416
Hypophosphatemic Rickets And Hyperparathyroidism	Hyperparathyroidism, Parathyroid hyperplasia, Rickets, Elevated circulating parathyroid hormone l...	OMIM:612089
Pseudohypoparathyroidism, Type Ii	Hyperphosphatemia, Hypocalcemia	OMIM:203330
Smith-Mccort Dysplasia 1	Short metacarpal, Multicentric femoral head ossification, Iliac crest serration, Hypoplastic scap...	OMIM:607326
Dacryocystitis-Osteopoikilosis Syndrome	Increased bone mineral density, Osteopoikilosis	ORPHA:1562
Dentin Dysplasia	Increased bone mineral density	ORPHA:1653
Sclerosteosis	Finger syndactyly, Craniofacial hyperostosis, Increased bone mineral density, 2-3 finger syndacty...	ORPHA:3152
Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type	Osteopenia, Short metacarpal, Short fourth metatarsal, Overlapping toe, Thoracolumbar scoliosis, ...	OMIM:616723
Brachydactyly Type A2	Aplasia/Hypoplasia of the middle phalanx of the 2nd finger, Short foot, Short middle phalanx of f...	ORPHA:93396
Pseudohypoparathyroidism, Type Ic	Short metacarpal, Short neck, Elevated circulating thyroid-stimulating hormone concentration, Sho...	OMIM:612462
Chromosome 8Q22.1 Duplication Syndrome	Hallux valgus, Short metacarpal, Enlarged interphalangeal joints, Genu recurvatum, Interphalangea...	OMIM:151200
Acromicric Dysplasia	Short metacarpal, Ovoid vertebral bodies, Joint stiffness, Small hand, Abnormal femur morphology,...	ORPHA:969
Vitamin D-Dependent Rickets, Type 3	Osteopenia, Hypocalcemia, Hypophosphatemia	OMIM:619073
Roifman-Chitayat Syndrome	Osteopenia, Short metacarpal, Short neck, Short metatarsal, Cone-shaped epiphysis, Arthritis	OMIM:613328
Metatropic Dysplasia	Abnormal intervertebral disk morphology, Camptodactyly of finger, Micromelia, Abnormal enchondral...	ORPHA:2635
Brachydactyly, Type A1, B	Type A brachydactyly, Cone-shaped epiphyses of the phalanges of the hand, Short middle phalanx of...	OMIM:607004
Angioosteohypotrophic Syndrome	Hypoplasia of the ulna, Short humerus, Abnormal trabecular bone morphology, Aplasia/hypoplasia in...	ORPHA:75508
Metatropic Dysplasia	Abnormal metaphyseal vascular invasion, Flexion contracture, Long coccyx, Narrow greater sciatic ...	OMIM:156530
Acrocapitofemoral Dysplasia	Micromelia, Short proximal phalanx of thumb, Coxa vara, Short palm, Hypoplastic iliac wing, Short...	OMIM:607778
Brachydactylous Dwarfism, Mseleni Type	Osteopenia, Protrusio acetabuli, Abnormal femoral head morphology, Short toe, Limitation of joint...	ORPHA:2619
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy	Short metacarpal, Rhizomelia, Ovoid vertebral bodies, Joint stiffness, Metaphyseal widening, Coxa...	OMIM:608940
Osteopetrosis, Autosomal Recessive 9	Papilledema, Increased bone mineral density, Cortical sclerosis, Hyperkalemia, Elevated circulati...	OMIM:620366
Short-Rib Thoracic Dysplasia 2 With Or Without Polydactyly	Short metacarpal, Rhizomelia, Postaxial hand polydactyly, Broad palm, Short foot, Mesomelia, Brac...	OMIM:611263
Progressive Osseous Heteroplasia	Abnormality of the parathyroid gland, Limitation of joint mobility, Osteoarthritis, Ectopic ossif...	ORPHA:2762
Acromesomelic Dysplasia, Hunter-Thompson Type	Short metacarpal, Brachydactyly, Bilateral single transverse palmar creases, Tarsal synostosis, C...	ORPHA:968
Flynn-Aird Syndrome	Increased bone mineral density, Joint stiffness, Osteoporosis, Increased bone density with cystic...	OMIM:136300
Saul-Wilson Syndrome	Enlarged epiphyses, Short metacarpal, Pseudoepiphyses of the metacarpals, Coxa valga, Micrognathi...	OMIM:618150
Ulnar Hemimelia	Glenoid fossa hypoplasia, Limited elbow movement, Osteoarthritis, Abnormal calcification of the c...	ORPHA:93320
Czech Dysplasia	Narrow femoral neck, Short metacarpal, Flat capital femoral epiphysis, Short toe, Flexion contrac...	OMIM:609162
Osteosclerotic Metaphyseal Dysplasia	Increased bone mineral density, Clavicular sclerosis	OMIM:615198
Osteosclerosis-Developmental Delay-Craniosynostosis Syndrome	Increased bone mineral density, Optic atrophy, Craniosynostosis	ORPHA:178377
Diastrophic Dysplasia	Hip contracture, Lumbar hyperlordosis, Cervical kyphosis, Kyphoscoliosis, Costal cartilage calcif...	OMIM:222600
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness	Broad toe, Pes planus, Lumbar hyperlordosis, Enlarged metacarpal epiphyses, Enlarged epiphyses of...	OMIM:609616
Myopathy, Tubular Aggregate, 2	Hypocalcemia, Elevated circulating creatine kinase concentration, Ankle flexion contracture	OMIM:615883
Satoyoshi Syndrome	Pes planus, Short metacarpal, Short metatarsal, Osteolytic defects of the phalanges of the hand, ...	OMIM:600705
Metaphyseal Dysplasia, Braun-Tinschert Type	Osteopenia, Broad tibial metaphyses, Humerus varus, Tibial bowing, Exostoses of the ulna, Scleros...	ORPHA:85188
Ritscher-Schinzel Syndrome 3	Hypoplasia of the ulna, Micrognathia, Cryptorchidism, Ulnar bowing, Wide anterior fontanel, Short...	OMIM:619135
Adams-Oliver Syndrome 3	Absent toe, Short metatarsal, 2-3 toe syndactyly, Short palm, Short distal phalanx of finger, Sho...	OMIM:614814
Multiple Epiphyseal Dysplasia Type 1	Brachydactyly, Abnormal acetabulum morphology, Joint stiffness, Avascular necrosis of the capital...	ORPHA:93308
Fibrodysplasia Ossificans Progressiva	Hallux valgus, Short hallux, Spinal rigidity, Limitation of joint mobility, Ectopic ossification ...	ORPHA:337
Spondyloepiphyseal Dysplasia-Brachydactyly And Distinctive Speech	Short neck, Delayed epiphyseal ossification, Rhizo-meso-acromelic limb shortening, Flexion contra...	OMIM:611717
Greenberg Dysplasia	Abnormal leukocyte morphology, Abnormally ossified vertebrae, Rhizomelia, Micromelia, Micrognathi...	ORPHA:1426
Metacarpal 4-5 Fusion	Clinodactyly of the 5th finger, 2-3 toe cutaneous syndactyly, 4-5 metacarpal synostosis, Short 5t...	OMIM:309630
Exudative Vitreoretinopathy 7	Retinal detachment, Exudative vitreoretinopathy, Retinal hole, Retinal fold, Retinal degeneration	OMIM:617572
Brachydactyly Type B	Type B brachydactyly, Finger syndactyly, Short metacarpal, 2nd-5th toe middle phalangeal hypoplas...	ORPHA:93383
Otospondylomegaepiphyseal Dysplasia	Short neck, Micrognathia, Osteoarthritis, Abnormal iliac wing morphology, Tibial bowing, Abnormal...	ORPHA:1427
Renal Tubular Acidosis, Distal, 1	Osteomalacia, Elevated circulating creatinine concentration, Hypokalemia, Hypocalcemia, Pathologi...	OMIM:179800
Epiphyseal Dysplasia, Multiple, With Severe Proximal Femoral Dysplasia	Epiphyseal dysplasia, Flat distal femoral epiphysis, Irregularity of vertebral bodies, Abnormalit...	OMIM:609324
Pde4D Haploinsufficiency Syndrome	Micrognathia, Short metatarsal, Irregular vertebral endplates, Elevated circulating parathyroid h...	ORPHA:439822
Syndactyly Type 2	Mesoaxial polydactyly, Sandal gap, Camptodactyly of finger, 2-3 toe syndactyly, Symphalangism aff...	ORPHA:93403
Heart-Hand Syndrome Type 2	Aplasia/Hypoplasia of the thumb, Abnormal morphology of ulna, Micromelia, Joint stiffness, Abnorm...	ORPHA:1350
Progressive Familial Intrahepatic Cholestasis	Hypocalcemia, Reduced bone mineral density	ORPHA:172
Cohen Syndrome	Pes planus, Short metacarpal, Thoracic scoliosis, Lumbar hyperlordosis, Single transverse palmar ...	OMIM:216550
Acromesomelic Dysplasia 2A	Hypoplasia of the ulna, Short humerus, Short femur, Aplasia/Hypoplasia of the patella, Postaxial ...	OMIM:200700
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland	Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures, Hypomagnesemia	ORPHA:2239
Osteogenesis Imperfecta, Type Viii	Osteopenia, Joint laxity, Short metacarpal, Radial bowing, Recurrent fractures, Femoral retrovers...	OMIM:610915
Trichorhinophalangeal Syndrome, Type I	Osteopenia, Pes planus, Short metacarpal, Ivory epiphyses of the distal phalanges of the hand, Sw...	OMIM:190350
Spondyloepimetaphyseal Dysplasia, Handigodu Type	Abnormal intervertebral disk morphology, Coxa vara, Arthralgia of the hip, Lumbar hyperlordosis, ...	ORPHA:99642
Hip Dysplasia, Beukes Type	Abnormality of the epiphysis of the femoral head, Abnormal ossification involving the femoral hea...	ORPHA:2114
Acromesomelic Dysplasia 4	Thoracic scoliosis, Short metatarsal, Short phalanx of finger, Genu varum, Short metacarpal, Radi...	OMIM:619636
Hyperparathyroidism 4	Osteopenia, Hypercalcemia	OMIM:617343
Progressive Pseudorheumatoid Arthropathy Of Childhood	Enlarged epiphyses, Irregularity of vertebral bodies, Wrist swelling, Coxa vara, Abnormal shoulde...	ORPHA:1159
Acrodysostosis 1 With Or Without Hormone Resistance	Neonatal epiphyseal stippling, Short metatarsal, Elevated circulating thyroid-stimulating hormone...	OMIM:101800
Atelosteogenesis, Type I	Short neck, Micrognathia, Short metatarsal, Tibial bowing, Knee dislocation, Vertebral hypoplasia...	OMIM:108720
Ollier Disease	Micromelia, Joint stiffness, Precocious puberty, Abnormal cartilage morphology, Osteolysis, Multi...	ORPHA:296
Progressive Pseudorheumatoid Dysplasia	Enlarged epiphyses, Enlarged interphalangeal joints, Camptodactyly of finger, Kyphoscoliosis, Joi...	OMIM:208230
Maffucci Syndrome	Neoplasm of the adrenal cortex, Recurrent fractures, Neoplasm of the parathyroid gland, Pituitary...	ORPHA:163634
Brachyolmia Type 1, Toledo Type	Back pain, Broad tibial metaphyses, Kyphoscoliosis, Short neck, Precocious costochondral ossifica...	OMIM:271630
Retinoschisis 1, X-Linked, Juvenile	Retinal detachment, Retinal atrophy, Retinal pigment epithelial atrophy, Mizuo phenomenon, Macula...	OMIM:312700
Exudative Vitreoretinopathy 3	Retinal detachment, Retinal exudate, Exudative vitreoretinopathy, Retinal hole, Retinal fold	OMIM:605750
Acromesomelic Dysplasia 2B	Short metacarpal, Brachydactyly, Rhizomelia, Deformed tarsal bones, Talipes equinovalgus, Short m...	OMIM:228900
Epiphyseal Stippling-Osteoclastic Hyperplasia Syndrome	Bowing of the long bones, Coarse metaphyseal trabecularization, Patent ductus arteriosus, Epiphys...	ORPHA:1952
Short Stature, Onychodysplasia, Facial Dysmorphism, And Hypotrichosis	Osteopenia, Short metacarpal, Brachydactyly, Hypoplastic sacrum, Rhizomelia, Diabetes mellitus, S...	OMIM:614813
Spondyloepiphyseal Dysplasia Tarda	Back pain, Abnormality of the tibial plateaux, Osteoarthritis of the distal interphalangeal joint...	ORPHA:93284
Multiple Endocrine Neoplasia, Type Iib	Joint laxity, Hyperlordosis, Kyphosis, Pheochromocytoma, Scoliosis, Elevated circulating calciton...	OMIM:162300
Frontometaphyseal Dysplasia	Single transverse palmar crease, Limited elbow movement, Micrognathia, Metaphyseal widening, Shor...	ORPHA:1826
Exostoses, Multiple, Type Ii	Short metacarpal, Pelvic bone exostoses, Protuberances at ends of long bones, Coxa vara, Genu val...	OMIM:133701
Exostoses, Multiple, Type I	Short metacarpal, Pelvic bone exostoses, Protuberances at ends of long bones, Coxa vara, Genu val...	OMIM:133700
Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive, Leroy-Spranger Type	Lumbar hyperlordosis, Decreased hip abduction, Flat capital femoral epiphysis, Genu valgum, Irreg...	OMIM:609223
Wormian Bone-Multiple Fractures-Dentinogenesis Imperfecta-Skeletal Dysplasia	Limitation of joint mobility, Upper limb undergrowth, Short foot, Toe clinodactyly, Pathologic fr...	ORPHA:166277
Slc39A13-Related Spondylodysplastic Ehlers-Danlos Syndrome	Osteopenia, Tapered finger, Flat capital femoral epiphysis, Thenar muscle atrophy, Flexion contra...	ORPHA:157965
Autosomal Recessive Kenny-Caffey Syndrome	Cortical thickening of long bone diaphyses, Hypocalcemia, Hypocalcemic tetany, Decreased skull os...	ORPHA:93324
Osteogenesis Imperfecta, Type Xxii	Bowing of the long bones, Recurrent fractures, Multiple prenatal fractures, Multiple small verteb...	OMIM:619795
Leri-Weill Dyschondrosteosis	Abnormal femoral neck morphology, Abnormal metatarsal morphology, Limited elbow movement, Abnorma...	OMIM:127300
Hypertension And Brachydactyly Syndrome	Cone-shaped epiphysis, Short metacarpal, Short phalanx of finger, Type E brachydactyly	OMIM:112410
Brachydactyly, Type E, With Atrial Septal Defect, Type Ii	Short metatarsal, Type E brachydactyly, Short 4th metacarpal	OMIM:113301
Osteogenesis Imperfecta, Type V	Osteopenia, Hyperextensibility of the finger joints, Pes planus, Recurrent fractures, Vertebral w...	OMIM:610967
Brachydactyly-Nystagmus-Cerebellar Ataxia	Short metacarpal, Short metatarsal, Brachydactyly	OMIM:113400
Isolated Osteopoikilosis	Abnormally ossified vertebrae, Increased bone mineral density, Sclerosis of foot bone, Sclerotic ...	ORPHA:166119
Spondyloepimetaphyseal Dysplasia, X-Linked	Anterior wedging of T12, Long fibula, Short palm, Short phalanx of finger, Broad metacarpals, Gen...	OMIM:300106
Osteoglophonic Dysplasia	Osteopenia, Short neck, Short metatarsal, Short palm, Short phalanx of finger, Pseudoarthrosis, B...	OMIM:166250
Intellectual Disability-Facial Dysmorphism-Hand Anomalies Syndrome	Brachydactyly, Single transverse palmar crease, Bifid distal phalanx of the thumb, Triangular sha...	ORPHA:370010
Linear Verrucous Nevus Syndrome	Short metacarpal, Toe syndactyly, Genu recurvatum, Talipes, Reduced bone mineral density, Scoliosis	ORPHA:2611
Split-Hand/Foot Malformation 4	Syndactyly, Aplasia/Hypoplasia of the phalanges of the hand, Split hand, Aplasia/Hypoplasia of th...	OMIM:605289
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type	Increased bone mineral density, Splenomegaly, Abnormal limb bone morphology, Limb undergrowth, Ab...	ORPHA:2204
Acromesomelic Dysplasia 2C	Hypoplasia of the ulna, Shortening of all middle phalanges of the fingers, Radial bowing, Single ...	OMIM:201250
Marinesco-Sjogren Syndrome	Pes planus, Short metacarpal, Hypergonadotropic hypogonadism, Coxa valga, Kyphosis, Flexion contr...	OMIM:248800
Brachydactyly, Type E2	Short metacarpal, Short metatarsal, Brachydactyly	OMIM:613382
Polydactyly, Postaxial, Type A7	Postaxial foot polydactyly, Postaxial hand polydactyly, Short fifth metatarsal, 2-3 toe cutaneous...	OMIM:617642
Spondyloepimetaphyseal Dysplasia, Isidor-Toutain Type	Upper-limb metaphyseal irregularity, Lower-limb metaphyseal irregularity, Enlarged metaphyses, Ir...	OMIM:618728
Pseudohypoparathyroidism Type 1C	Short metacarpal, Short fifth metatarsal, Increased bone mineral density, Decreased response to g...	ORPHA:79444
Desbuquois Dysplasia 2	Single transverse palmar crease, Short neck, Metaphyseal widening, Knee dislocation, Short phalan...	OMIM:615777
Summitt Syndrome	Finger syndactyly, Camptodactyly of finger, Craniosynostosis, Genu valgum, Short palm, Clinodacty...	ORPHA:3210
Multiple Epiphyseal Dysplasia, Beighton Type	Thoracic scoliosis, Osteoarthritis, Coxa vara, Pedal edema, Double-layered patella, Abnormal hip ...	ORPHA:166011
Hypocalcemic Vitamin D-Resistant Rickets	Hyperparathyroidism, Osteomalacia, Recurrent fractures, Bone cyst, Genu varum, Osteolysis, Abnorm...	ORPHA:93160
Spondylometaphyseal Dysplasia With Corneal Dystrophy	Brachydactyly, Increased intervertebral space, Thoracic platyspondyly, Metaphyseal widening, Squa...	OMIM:618961
Albers-Schönberg Osteopetrosis	Osteomyelitis, Recurrent fractures, Mandibular osteomyelitis, Generalized osteosclerosis, Osteoar...	ORPHA:53
Late-Onset Retinal Degeneration	Sub-RPE deposits, Choroidal neovascularization, Chorioretinal degeneration, Retinopathy, Retinal ...	OMIM:605670
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly	Short metacarpal, Brachydactyly, Sandal gap, Postaxial polydactyly, Short metatarsal, Cone-shaped...	OMIM:617102
Jackson-Weiss Syndrome	Broad hallux phalanx, Toe syndactyly, Short metatarsal, 2-3 toe syndactyly, Symphalangism affecti...	ORPHA:1540
Multiple Endocrine Neoplasia Type 1	Pituitary corticotropic cell adenoma, Pituitary gonadotropic cell adenoma, Pancreatic endocrine t...	ORPHA:652
Anauxetic Dysplasia 3	Beaking of vertebral bodies, Short metacarpal, Thoracolumbar kyphoscoliosis, Joint hypermobility,...	OMIM:618853
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia	Hypoplastic pubic ramus, Proximal placement of thumb, Short neck, Micrognathia, Short metatarsal,...	OMIM:609945
X-Linked Retinal Dysplasia	Abnormal retinal vascular morphology, Abnormality of retinal pigmentation, Retinal dysplasia	ORPHA:1852
Spondyloepimetaphyseal Dysplasia Congenita, Strudwick Type	Abnormally ossified vertebrae, Restricted large joint movement, Maternal diabetes, Micrognathia, ...	ORPHA:93346
Dysspondyloenchondromatosis	Kyphoscoliosis, Lower limb asymmetry, Osteoarthritis, Generalized joint laxity, Abnormal fibula m...	ORPHA:85198
Spondyloepiphyseal Dysplasia Tarda, Kohn Type	Abnormality of the knee, Restricted large joint movement, Platyspondyly, Abnormality of the ankle...	ORPHA:163665
Heyn-Sproul-Jackson Syndrome	11 pairs of ribs, Short metacarpal, Broad phalanx, Short phalanx of finger, Broad metacarpals	OMIM:618724
Acromegaloid Facial Appearance Syndrome	Micrognathia, Tapered finger, Large hands, Short 5th metacarpal, Joint hypermobility	OMIM:102150
Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy	Hyponatremia, Hypokalemia, Hypocalcemia, Hypomagnesemia	OMIM:620152
Spondyloepiphyseal Dysplasia, Stanescu Type	Stiff neck, Kyphoscoliosis, Coxa valga, Hypoplastic ilia, Joint stiffness, Vertebral wedging, Pla...	OMIM:616583
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly	Congenital hip dislocation, Abnormal finger flexion crease, Aplasia/Hypoplasia of the 5th finger,...	OMIM:228930
Familial Expansile Osteolysis	Pathologic fracture, Bowing of the long bones, Osteolysis, Thin bony cortex	OMIM:174810
Chondroectodermal Dysplasia With Night Blindness	Osteopenia, Epiphyseal dysplasia, Metaphyseal dysplasia, Abnormality of the knee, Equinovarus def...	ORPHA:319195
Greenberg Dysplasia	Micromelia, Micrognathia, Multiple prenatal fractures, Patchy variation in bone mineral density, ...	OMIM:215140
Spondylometaphyseal Dysplasia, Kozlowski Type	Irregular, rachitic-like metaphyses, Short neck, Kyphoscoliosis, Hypoplasia of the odontoid proce...	OMIM:184252
Craniodiaphyseal Dysplasia, Autosomal Dominant	Craniofacial hyperostosis, Papilledema, Cortical sclerosis, Craniofacial osteosclerosis, Optic at...	OMIM:122860
Larsen Syndrome	Cervical kyphosis, Short metatarsal, Knee dislocation, Spina bifida occulta, Hypoplastic cervical...	OMIM:150250
Blue Diaper Syndrome	Abnormal circulating tryptophan concentration, Hypercalcemia	OMIM:211000
Ck Syndrome	Hyperlordosis, Micrognathia, Kyphosis, Scoliosis, Abnormal cortical bone morphology, Abnormal dig...	OMIM:300831
Trichorhinophalangeal Syndrome Type 1	Short metacarpal, Camptodactyly of finger, Hyperlordosis, Avascular necrosis of the capital femor...	ORPHA:77258
Bruck Syndrome 1	Joint laxity, Hip contracture, Protrusio acetabuli, Ankle flexion contracture, Kyphosis, Osteopor...	OMIM:259450
Lissencephaly Type 3-Metacarpal Bone Dysplasia Syndrome	Short metacarpal, Abnormal cartilage matrix, Epiphyseal stippling, Talipes equinovarus, Arthrogry...	ORPHA:86822
Multiple Osteochondromas	Deformed radius, Abnormal hand morphology, Abnormal tibia morphology, Metaphyseal widening, Abnor...	ORPHA:321
Lethal Congenital Contracture Syndrome Type 1	Recurrent fractures, Short neck, Micrognathia, Abnormality of the elbow, Limitation of joint mobi...	ORPHA:1486
Ulna Metaphyseal Dysplasia Syndrome	Hypercalcemia	OMIM:191420
Hand-Foot-Genital Syndrome	Shortening of all middle phalanges of the fingers, Short hallux, Proximal placement of thumb, Hal...	OMIM:140000
Patent Ductus Arteriosus And Bicuspid Aortic Valve With Hand Anomalies	Short toe, Patent ductus arteriosus, Short finger, Clinodactyly of the 5th finger, Short 5th meta...	OMIM:604381
Spondylometaphyseal Dysplasia, X-Linked	Hip contracture, Hyperextensibility of the finger joints, Thoracolumbar scoliosis, Tapered finger...	OMIM:313420
Paternal Uniparental Disomy Of Chromosome X	Cubitus valgus, Short metacarpal, Decreased testicular size, Short neck	ORPHA:261524
Spondyloepimetaphyseal Dysplasia, Shohat Type	Bowing of the legs, Short neck, Delayed epiphyseal ossification, Metaphyseal widening, Abnormal v...	ORPHA:93352
Pseudohypoparathyroidism Type 1A	Decreased response to growth hormone stimulation test, Reduced circulating prolactin concentratio...	ORPHA:79443
Temtamy Preaxial Brachydactyly Syndrome	Syndactyly, Short metacarpal, Hitchhiker thumb, Tarsal synostosis, Short metatarsal, Radioulnar s...	OMIM:605282
Familial Drusen	Abnormality of retinal pigmentation, Macular drusen, Peripapillary chorioretinal atrophy, Choroid...	ORPHA:75376
Hypoparathyroidism, Familial Isolated, 1	Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures	OMIM:146200
Vitamin D Hydroxylation-Deficient Rickets, Type 1B	Bulging epiphyses, Thin bony cortex, Enlargement of the ankles, Recurrent fractures, Bowing of th...	OMIM:600081
Autosomal Dominant Hypophosphatemic Rickets	Hypocalcemia, Rickets, Osteomalacia, Hypophosphatemia	ORPHA:89937
Endosteal Hyperostosis, Autosomal Dominant	Sclerotic vertebral body, Hyperostosis, Abnormal pelvic girdle bone morphology, Metacarpal diaphy...	OMIM:144750
Metaphyseal Chondrodysplasia, Schmid Type	Irregular acetabular roof, Metaphyseal chondrodysplasia, Metaphyseal widening, Coxa vara, Femoral...	OMIM:156500
Rhizomelic Dysplasia, Patterson-Lowry Type	Short humerus, Short metacarpal, Rhizomelia, Hyperlordosis, Coxa vara, Genu valgum, Deviation of ...	ORPHA:2831
Retinopathy, Pericentral Pigmentary, Dominant	Bone spicule pigmentation of the retina, Retinal atrophy, Retinal dystrophy, Pigmentary retinopat...	OMIM:180210
Cranio-Osteoarthropathy	Abnormality of the knee, Joint stiffness, Abnormal tibia morphology, Osteoarthritis, Clubbing of ...	ORPHA:1525
Brachydactyly-Arterial Hypertension Syndrome	Short metacarpal, Short phalanx of finger, Brachydactyly	ORPHA:1276
Spondyloepimetaphyseal Dysplasia, Strudwick Type	Pes planus, Brachydactyly, Club-shaped proximal femur, Hyperlordosis, Hypoplasia of the odontoid ...	OMIM:184250
Osteosclerosis With Ichthyosis And Fractures	Cortical thickening of long bone diaphyses, Increased bone mineral density, Recurrent fractures	OMIM:166740
Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia	Aplasia/Hypoplasia of the thumb, Short humerus, Absent radius, Elbow dislocation, Ulnar bowing, S...	OMIM:171480
Roifman Syndrome	Hip contracture, Short metacarpal, Biconvex vertebral bodies, Single transverse palmar crease, Eo...	OMIM:616651
Axial Osteomalacia	Increased bone mineral density, Osteomalacia, Elevated circulating creatine kinase concentration	OMIM:109130
Multiple Endocrine Neoplasia Type 4	Hyperparathyroidism, Pituitary corticotropic cell adenoma, Fasting hyperinsulinemia, Elevated cir...	ORPHA:276152
Split-Hand/Foot Malformation 2	Finger syndactyly, Short metacarpal, Split hand, Split foot, Short phalanx of finger	OMIM:313350
Melorheostosis	Increased bone mineral density, Joint stiffness, Hyperostosis, Arthritis, Ectopic ossification in...	ORPHA:2485
Dentin Dysplasia With Sclerotic Bones	Cortical sclerosis	OMIM:125440
Caffey Disease	Periosteal thickening of long tubular bones, Cortical thickening of long bone diaphyses, Scoliosi...	ORPHA:1310
Chst3-Related Skeletal Dysplasia	Short metacarpal, Rhizomelia, Kyphoscoliosis, Abnormality of the elbow, Flexion contracture, Abno...	ORPHA:263463
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly	Femoral bowing, Knee flexion contracture, Short 5th metacarpal, Radial bowing, Broad hallux, Thor...	OMIM:618019
Osteopetrosis, Autosomal Dominant 1	Thickened cortex of long bones, Generalized osteosclerosis, Calvarial osteosclerosis, Osteopetrosis	OMIM:607634
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Leptodactylic Type	Abnormal metatarsal morphology, Aplasia/hypoplasia of the extremities, Delayed epiphyseal ossific...	ORPHA:93360
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3	Joint laxity, Hypoplasia of the ulna, Pes planus, Tapered finger, Short neck, Hip dislocation, Ir...	OMIM:618395
Atelosteogenesis, Type Ii	Cervical kyphosis, Micromelia, Short neck, Increased intervertebral space, Micrognathia, Lumbar h...	OMIM:256050
Hypophosphatemic Rickets, X-Linked Dominant	Shortening of the talar neck, Osteomalacia, Bowing of the legs, Osteoarthritis, Rickets, Spinal c...	OMIM:307800
Hypophosphatemic Rickets, X-Linked Recessive	Bulging epiphyses, Thin bony cortex, Enlargement of the ankles, Osteomalacia, Recurrent fractures...	OMIM:300554
Postaxial Oligodactyly, Tetramelic	Radial bowing, Aplasia of the 5th metacarpal, Single transverse palmar crease, Absent fifth metat...	OMIM:176240
Upper Limb Defect-Eye And Ear Abnormalities Syndrome	Short thumb, Short metacarpal, Cryptorchidism	ORPHA:2489
Pseudohypoparathyroidism Type 2	Calcinosis, Hyperphosphatemia, Hypocalcemia, Hypocalcemic tetany, Hypocalcemic seizures	ORPHA:94090
Weill-Marchesani Syndrome 2	Short metacarpal, Lumbar hyperlordosis, Thin bony cortex, Joint stiffness, Patent ductus arterios...	OMIM:608328
Mueller-Weiss Syndrome	Limitation of movement at ankles, Sclerosis of foot bone, Joint stiffness, Knee osteoarthritis, A...	ORPHA:566943
Spondyloepimetaphyseal Dysplasia, Shohat Type	Micromelia, Short neck, Delayed epiphyseal ossification, Coxa vara, Narrow greater sciatic notch,...	OMIM:602557
Spondylometaphyseal Dysplasia, Sedaghatian Type	Short neck, Delayed epiphyseal ossification, Long fibula, Narrow greater sciatic notch, Short pha...	OMIM:250220
Craniometadiaphyseal Dysplasia, Wormian Bone Type	Osteopenia, Increased bone mineral density, Thin bony cortex, Coxa valga, Short tubular bones of ...	ORPHA:85184
Distal Deletion 10Q	Pes planus, Scapular winging, Lumbar hyperlordosis, Sandal gap, Single transverse palmar crease, ...	ORPHA:96148
Autoimmune Hypoparathyroidism	Increased bone mineral density, Hyperphosphatemia, Hypocalcemia, Hypocalcemic tetany, Hypocalcemi...	ORPHA:36913
Atelosteogenesis Type Ii	Cervical kyphosis, Micromelia, Short neck, Micrognathia, Tracheobronchomalacia, Short phalanx of ...	ORPHA:56304
Osteopetrosis, Autosomal Recessive 1	Increased bone mineral density, Osteomyelitis, Craniosynostosis, Optic atrophy, Osteopetrosis, Hy...	OMIM:259700
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures	Short neck, Micrognathia, Metaphyseal widening, Delayed proximal femoral epiphyseal ossification,...	OMIM:271640
Boomerang Dysplasia	Finger syndactyly, Abnormal morphology of the radius, Abnormally ossified vertebrae, Abnormal mor...	ORPHA:1263
Hyperparathyroidism 1	Hypercalcemia	OMIM:145000
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome	Increased bone mineral density, Ovoid vertebral bodies, Coxa valga, Short neck, Micrognathia, Wid...	ORPHA:163649
Hypophosphatemic Rickets With Hypercalciuria, Hereditary	Bulging epiphyses, Thin bony cortex, Enlargement of the ankles, Recurrent fractures, Decreased ci...	OMIM:241530
Birdshot Chorioretinopathy	Retinal detachment, Optic disc pallor, Abnormal chorioretinal morphology, Choroidal neovasculariz...	ORPHA:179
Andersen Cardiodysrhythmic Periodic Paralysis	Joint laxity, Short metacarpal, Toe syndactyly, Scapular winging, Hyperthyroidism, Micrognathia, ...	OMIM:170390
Patent Ductus Arteriosus-Bicuspid Aortic Valve-Hand Anomalies Syndrome	Abnormal hand morphology, Patent ductus arteriosus, Clinodactyly of the 5th finger, Short digit, ...	ORPHA:228190
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type	Micromelia, Bowing of the legs, Short neck, Micrognathia, Triangular shaped distal phalanges of t...	OMIM:271665
Pseudohypoparathyroidism, Type Ib	Hyperphosphatemia, Hypocalcemia	OMIM:603233
Epiphyseal Dysplasia, Multiple, With Early-Onset Diabetes Mellitus	Ivory epiphyses of the phalanges of the hand, Irregular vertebral endplates, Hyperlordosis, Hypop...	OMIM:226980
Brachydactyly, Type E1	Short metacarpal, Short metatarsal, Short clavicles, Type E brachydactyly, Brachydactyly	OMIM:113300
C Syndrome	Fused sternal ossification centers, Short metacarpal, Toe syndactyly, Micromelia, Micrognathia, C...	OMIM:211750
Vitamin D Hydroxylation-Deficient Rickets, Type 1A	Bulging epiphyses, Thin bony cortex, Enlargement of the ankles, Recurrent fractures, Bowing of th...	OMIM:264700
Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive	Epiphyseal dysplasia, Lumbar hyperlordosis, Large tarsal bones, Micrognathia, Flexion contracture...	OMIM:215150
Van Maldergem Syndrome 1	Osteopenia, Joint laxity, Short fourth metatarsal, Sacral dimple, Tracheomalacia, Micrognathia, W...	OMIM:601390
Vitamin D-Dependent Rickets, Type 2A	Bulging epiphyses, Thin bony cortex, Enlargement of the ankles, Recurrent fractures, Bowing of th...	OMIM:277440
Trichodentoosseous Syndrome	Increased bone mineral density	OMIM:190320
Ruvalcaba Syndrome	Short metacarpal, Brachydactyly, Proximal placement of thumb, Micromelia, Kyphosis, Cryptorchidis...	ORPHA:3121
Lethal Short-Limb Skeletal Dysplasia, Al Gazali Type	Shortening of all metacarpals, Wide anterior fontanel, Shortening of all phalanges of fingers, Pl...	OMIM:601356
Otopalatodigital Syndrome, Type I	Abnormality of the fifth metatarsal bone, Absent frontal sinuses, Femoral bowing, Broad distal ph...	OMIM:311300
Grant Syndrome	Bowing of the long bones, Micrognathia, Joint hyperflexibility, Abnormal pelvic girdle bone morph...	ORPHA:2097
Caffey Disease	Joint hypermobility, Bowing of the legs, Tibial bowing, Periosteal thickening of long tubular bon...	OMIM:114000
Spondyloepiphyseal Dysplasia Congenita	Back pain, Limited elbow movement, Short neck, Micrognathia, Reduced bone mineral density, Abnorm...	ORPHA:94068
Osteoarthritis With Mild Chondrodysplasia	Heberden's node, Joint stiffness, Knee osteoarthritis, Schmorl's node, Irregular vertebral endpla...	OMIM:604864
Kenny-Caffey Syndrome, Type 2	Papilledema, Increased bone mineral density, Transient hypophosphatemia, Retinal calcification, H...	OMIM:127000
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss	Hypocalcemia, Elevated circulating gamma-aminobutyric acid concentration	OMIM:619658
Van Maldergem Syndrome 2	Osteopenia, Joint laxity, Short fourth metatarsal, Sacral dimple, Ulnar deviation of the hand, Tr...	OMIM:615546
Body Mass Index Quantitative Trait Locus 20	Increased bone mineral density	OMIM:618406
Autosomal Recessive Axonal Neuropathy With Neuromyotonia	Short third metatarsal, Hand muscle atrophy, Thoracic scoliosis, Camptodactyly of finger, Peronea...	ORPHA:324442
Odontotrichoungual-Digital-Palmar Syndrome	Single transverse palmar crease, Short first metatarsal, Prominent interdigital folds, Short dist...	OMIM:601957
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis	Microretrognathia, Hip contracture, Pes planus, Kyphoscoliosis, Coxa valga, Hyperlordosis, Microg...	OMIM:618363
Achondrogenesis Type 2	Delayed vertebral ossification, Absent vertebral body mineralization, Micromelia, Hypoplastic ili...	ORPHA:93296
Rhizomelic Dysplasia, Ain-Naz Type	Short humerus, Short femur, Hypoplasia of the femoral head, Rhizomelia, Wide distal femoral metap...	OMIM:619598
Weaver Syndrome	Short fourth metatarsal, Single transverse palmar crease, Calcaneovalgus deformity, Hypoplastic i...	OMIM:277590
Lethal Recessive Chondrodysplasia	Micromelia, Micrognathia, Generalized osteosclerosis, Short long bone, Flared elbow metaphyses, L...	ORPHA:1423
Gorham-Stout Disease	Osteopenia, Abnormal pelvis bone morphology, Osteomyelitis, Osteolysis involving bones of the upp...	ORPHA:73
Axial Spondylometaphyseal Dysplasia	Osteopenia, Aplasia/Hypoplasia of the vertebrae, Thoracic scoliosis, Proximal femoral metaphyseal...	ORPHA:168549
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type	Short neck, Coxa vara, Tibial bowing, Reduced bone mineral density, Iron deficiency anemia, Hypop...	ORPHA:93315
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome	Limited elbow movement, Micrognathia, Increased intervertebral space, Thoracolumbar kyphosis, T l...	ORPHA:508533
Fibrodysplasia Ossificans Progressiva	Hallux valgus, Small cervical vertebral bodies, Progressive cervical vertebral spine fusion, Ecto...	OMIM:135100
Multicentric Osteolysis, Nodulosis, And Arthropathy	Osteopenia, Micrognathia, Metaphyseal widening, Metatarsal osteolysis, Camptodactyly of toe, Wris...	OMIM:259600
Zechi-Ceide Syndrome	Sandal gap, Long foot, Short metatarsal, Short distal phalanx of finger	OMIM:612916
Chondrodysplasia-Difference Of Sex Development Syndrome	Short metacarpal, Broad long bones, Micromelia, Increased skull ossification, Abnormal shoulder m...	ORPHA:1422
Kniest Dysplasia	Hip contracture, Rhizomelia, Dumbbell-shaped long bone, Short neck, Abnormal cartilage collagen, ...	OMIM:156550
Hypocalcemia, Autosomal Dominant 1	Hypokalemia, Hyperphosphatemia, Increased circulating renin level, Hypocalcemia, Hypomagnesemia	OMIM:601198
Otopalatodigital Syndrome, Type Ii	Congenital hip dislocation, Elbow contracture, Short neck, Micrognathia, Short metatarsal, Tibial...	OMIM:304120
Hand-Foot-Genital Syndrome	Shortening of all middle phalanges of the fingers, Sacral dimple, Short hallux, Proximal placemen...	ORPHA:2438
Acromesomelic Dysplasia, Grebe Type	Aplasia/Hypoplasia of the thumb, Bowing of the long bones, Brachydactyly, Tarsal synostosis, Micr...	ORPHA:2098
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations	Limited hip extension, Genu recurvatum, Short neck, Flexion contracture, Tibial bowing, Irregular...	OMIM:143095
Dentinogenesis Imperfecta-Short Stature-Hearing Loss-Intellectual Disability Syndrome	Cone-shaped epiphysis, Platyspondyly, Osteoporosis	ORPHA:71267
Hall-Riggs Syndrome	Metaphyseal dysplasia, Kyphosis, Osteoporosis, Irregular vertebral endplates, Platyspondyly, Scol...	OMIM:234250
Melnick-Needles Syndrome	Craniofacial hyperostosis, Bowing of the long bones, Coxa valga, Micrognathia, Hip dislocation, C...	ORPHA:2484
Short Stature-Brachydactyly-Obesity-Global Developmental Delay Syndrome	Short fourth metatarsal, Short neck, Abnormality of the endocrine system, Cryptorchidism, Pseudoh...	ORPHA:464288
Osteogenesis Imperfecta, Type Ix	Recurrent fractures, Multiple prenatal fractures, Kyphosis, Platyspondyly, Decreased calvarial os...	OMIM:259440
Osteopetrosis, Autosomal Recessive 4	Optic disc pallor, Increased bone mineral density, Recurrent fractures, Optic atrophy, Osteopetrosis	OMIM:611490
Metaphyseal Dysostosis-Intellectual Disability-Conductive Deafness Syndrome	Joint laxity, Metaphyseal dysplasia, Broad tibial metaphyses, Equinovarus deformity, Bowing of th...	ORPHA:2502
Osteopetrosis, Autosomal Dominant 2	Recurrent fractures, Mandibular osteomyelitis, Fractures of the long bones, Generalized osteoscle...	OMIM:166600
Sillence Syndrome	Back pain, Large iliac wing, Abnormal vertebral morphology, Large tarsal bones, Flat acetabular r...	ORPHA:3168
Fibrous Dysplasia Of Bone	Abnormal tibia morphology, Abnormal femur morphology, Coxa vara, Thyroid carcinoma, Patchy reduct...	ORPHA:249
Osteogenesis Imperfecta, Type Xxi	Pes planus, Recurrent fractures, Coxa valga, Bowing of the legs, Osteoporosis, Coxa vara, Platysp...	OMIM:619131
Bruck Syndrome	Bowing of the long bones, Recurrent fractures, Joint stiffness, Kyphosis, Osteoporosis, Platyspon...	ORPHA:2771
Anauxetic Dysplasia 1	Joint laxity, Hip contracture, Lumbar hyperlordosis, Rhizomelia, Short neck, Hypoplastic ilia, Sh...	OMIM:607095
Paget Disease Of Bone 5, Juvenile-Onset	Osteopenia, Increased bone mineral density, Recurrent fractures, Macular scar, Ankylosis, Hydroxy...	OMIM:239000
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type	Dysplastic iliac wing, Lumbar hyperlordosis, Metaphyseal spurs, Ovoid vertebral bodies, Bowing of...	OMIM:608728
Verloove Vanhorick-Brubakk Syndrome	Finger syndactyly, Tarsal synostosis, Micrognathia, Cryptorchidism, Abnormality of the parathyroi...	ORPHA:3429
Pelger-Huet Anomaly	Abnormality of neutrophils, Kyphosis, Hyposegmentation of neutrophil nuclei, Giant platelets, Neu...	OMIM:169400
Multiple Endocrine Neoplasia Type 2	Joint laxity, Paraganglioma of head and neck, Kyphoscoliosis, Hyperlordosis, Thyroid C cell hyper...	ORPHA:653
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome	Ivory epiphyses, Short metacarpal, Bowing of the long bones, Rhizomelia, Metaphyseal spurs, Ovoid...	ORPHA:85167
Leukodystrophy, Hypomyelinating, 26, With Chondrodysplasia	Joint laxity, Coxa valga, Elbow dislocation, Advanced ossification of carpal bones, Knee dislocat...	OMIM:620269
Rubinstein-Taybi Syndrome 2	Syndactyly, Broad hallux, Micrognathia, Short first metatarsal, Short 5th toe, Prominent fingerti...	OMIM:613684
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia	11 pairs of ribs, Rhizomelia, Metaphyseal cupping of proximal phalanges, Metaphyseal cupping of m...	OMIM:300863
Cri-Du-Chat Syndrome	Microretrognathia, Syndactyly, Short metacarpal, Pes planus, Single transverse palmar crease, Sho...	OMIM:123450
Chromosome 2Q37 Deletion Syndrome	Short metacarpal, Short fourth metatarsal, Hypothyroidism, Short toe, Short phalanx of finger, Ty...	OMIM:600430
Codas Syndrome	Short metacarpal, Congenital hip dislocation, Abnormal form of the vertebral bodies, Coronal clef...	ORPHA:1458
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome	Bowing of the long bones, Rhizomelia, Proximal placement of thumb, Short neck, Micrognathia, Plat...	ORPHA:93267
Second Metatarsal-Metacarpal Syndrome	Platyspondyly, Synostosis of carpals/tarsals, Abnormal metacarpal morphology	OMIM:269630
Geroderma Osteodysplastica	Beaking of vertebral bodies, Pes planus, Recurrent fractures, Talipes, Hip dislocation, Osteoporo...	ORPHA:2078
Zollinger-Ellison Syndrome	Increased urinary cortisol level, Hyperparathyroidism, Pituitary null cell adenoma, Elevated circ...	ORPHA:913
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency	Decreased circulating cortisol level, Adrenal hyperplasia, Decreased circulating dehydroepiandros...	ORPHA:95699
Shashi-Pena Syndrome	Short metacarpal, Kyphosis, Patent ductus arteriosus, Osteoporosis, Deep palmar crease, Scoliosis...	OMIM:617190
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1	Osteopenia, 11 pairs of ribs, Sandal gap, Short toe, Clinodactyly of the 5th finger, Spina bifida...	OMIM:617877
Brachydactyly, Type B1	Type B brachydactyly, Syndactyly, Vertebral fusion, Hypoplastic sacrum, Thoracolumbar scoliosis, ...	OMIM:113000
Autosomal Recessive Hypophosphatemic Rickets	Abnormal trabecular bone morphology, Increased bone mineral density, Osteomalacia, Rickets of the...	ORPHA:289176
Cantu Syndrome	Broad hallux, Ovoid vertebral bodies, Short hallux, Coxa valga, Short neck, Metaphyseal widening,...	OMIM:239850
Kniest Dysplasia	Enlarged epiphyses, Abnormality of the epiphysis of the femoral head, Short neck, Aplasia/hypopla...	ORPHA:485
Hypophosphatemic Bone Disease	Rickets, Osteomalacia, Bowing of the legs	OMIM:146350
Mesomelia-Synostoses Syndrome	Microretrognathia, Ulnar deviation of the hand, Progressive forearm bowing, Micromelia, Micrognat...	OMIM:600383
Alpha-Heavy Chain Disease	Hypocalcemia	ORPHA:100025
Hypocalcemic Vitamin D-Dependent Rickets	Enlargement of the ankles, Osteomalacia, Irregular, rachitic-like metaphyses, Subperiosteal bone ...	ORPHA:289157
Spondyloepimetaphyseal Dysplasia, Missouri Type	Radial bowing, Rhizomelia, Irregular sclerotic endplates, Ulnar bowing, Osteoarthritis, Flared me...	OMIM:602111
Kenny-Caffey Syndrome, Type 1	Decreased skull ossification, Calvarial osteosclerosis, Hypocalcemia, Hypomagnesemia	OMIM:244460
Brachydactyly Type A1	Hypoplasia of the ulna, Short hallux, Short thumb, Short foot, Cone-shaped epiphysis, Short middl...	ORPHA:93388
Lipodystrophy, Congenital Generalized, Type 3	Hypercholesterolemia, Hypertriglyceridemia, Hypocalcemia	OMIM:612526
Proteus Syndrome	Kyphoscoliosis, Splenomegaly, Mandibular hyperostosis, Spinal canal stenosis, Hypertrophy of skin...	OMIM:176920
Pseudohypoparathyroidism Type 1B	Calcinosis, Increased bone mineral density, Diaphyseal sclerosis, Hyperphosphatemia, Increased bo...	ORPHA:94089
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly	Osteopenia, Short neck, Micrognathia, Short metatarsal, Clinodactyly of the 5th finger, Short pha...	OMIM:266920
Retinitis Pigmentosa 70	Optic disc pallor, Macular degeneration, Rod-cone dystrophy, Retinal degeneration, Attenuation of...	OMIM:615922
Gm1-Gangliosidosis, Type Ii	Coxa valga, Joint stiffness, Splenomegaly, Patent ductus arteriosus, Hypoplastic vertebral bodies...	OMIM:230600
Dent Disease 1	Bulging epiphyses, Thin bony cortex, Enlargement of the ankles, Osteomalacia, Recurrent fractures...	OMIM:300009
Osteogenesis Imperfecta, Type Xviii	Joint laxity, Bowing of the long bones, Thin bony cortex, Recurrent fractures, Joint hypermobilit...	OMIM:617952
Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive	Flattened metatarsal heads, Osteoarthritis, Platyspondyly, Hip osteoarthritis, Flattened metacarp...	OMIM:271600
Spondyloepiphyseal Dysplasia, Kimberley Type	Flat capital femoral epiphysis, Platyspondyly, Genu varum, Genu valgum	OMIM:608361
Spondylometaphyseal Dysplasia, A4 Type	Micromelia, Limitation of joint mobility, Coxa vara, Platyspondyly, Short palm	ORPHA:168555
Spondyloepiphyseal Dysplasia Tarda With Mental Retardation	Short greater sciatic notch, Platyspondyly, Anterior beaking of lumbar vertebrae, Coxa valga	OMIM:271620
Synostoses, Tarsal, Carpal, And Digital	Short metacarpal, Tarsal synostosis, Aplasia/Hypoplasia of the middle phalanges of the hand, Meta...	OMIM:186400
Martsolf Syndrome 1	Thoracic scoliosis, Micrognathia, Osteopathia striata, Finger joint hypermobility, Short palm, Sh...	OMIM:212720
Phocomelia-Ectrodactyly-Deafness-Sinus Arrhythmia Syndrome	Aplasia/Hypoplasia of the thumb, Short humerus, Hypoplasia of the ulna, Radial club hand, Ulnar b...	ORPHA:2878
Acheiropody	Carpal bone aplasia, Short humerus, Peromelia, Aplasia of the phalanges of the hand, Aplasia of t...	OMIM:200500
Brachyolmia Type 4 With Mild Epiphyseal And Metaphyseal Changes	Premature pubarche, Kyphoscoliosis, Bowing of the legs, Irregular vertebral endplates, Platyspond...	OMIM:612847
Blomstrand Lethal Chondrodysplasia	Short metacarpal, Bowing of the long bones, Increased bone mineral density, Rhizomelia, Aplastic ...	ORPHA:50945
Nephropathy-Deafness-Hyperparathyroidism Syndrome	Bone cyst, Hypercalcemia	ORPHA:2668
Odontochondrodysplasia	Bowing of the long bones, Micromelia, Coxa valga, Patent ductus arteriosus, Cone-shaped epiphysis...	ORPHA:166272
2P21 Microdeletion Syndrome	Hypocalcemia	ORPHA:163693
Calvarial Doughnut Lesions With Bone Fragility	Osteopenia, Recurrent fractures, Osteoporosis, Femoral bowing, Platyspondyly, Scoliosis	OMIM:126550
Schwartz-Jampel Syndrome, Type 1	Congenital hip dislocation, Cervical kyphosis, Micromelia, Bowing of the legs, Short neck, Microg...	OMIM:255800
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type	Micromelia, Short neck, Severe limb shortening, Radial bowing, Rhizomelia, Dumbbell-shaped long b...	OMIM:151210
Hypochondroplasia	Brachydactyly, Widened interpedicular distance, Lumbar hyperlordosis, Aplasia/hypoplasia of the e...	OMIM:146000
Zechi-Ceide Syndrome	Sandal gap, Long foot, Short metatarsal, Short distal phalanx of finger	ORPHA:217017
Autosomal Dominant Brachyolmia	Increased vertebral height, Abnormal metaphysis morphology, Platyspondyly, Kyphoscoliosis	ORPHA:93304
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis	Increased skull ossification, Craniofacial osteosclerosis, Optic atrophy, Diaphyseal sclerosis, O...	OMIM:618476
Epiphyseal Dysplasia, Baumann Type	Carpal bone aplasia, Epiphyseal dysplasia, Joint laxity, Pes planus, Hypoplasia of the femoral he...	OMIM:610797
Microcephaly, Short Stature, And Limb Abnormalities	11 pairs of ribs, Short metacarpal, Brachydactyly, Hypoplasia of the radius, Patellar aplasia, Pa...	OMIM:617604
Pitt-Hopkins Syndrome	Pes planus, Short fourth metatarsal, Short fifth metatarsal, Overlapping toe, Sacral dimple, Sing...	OMIM:610954
Codas Syndrome	Short humerus, Short metacarpal, Congenital hip dislocation, Metaphyseal dysplasia, Proximal plac...	OMIM:600373
Osteopetrosis, Autosomal Recessive 6	Osteopetrosis	OMIM:611497
Familial Exudative Vitreoretinopathy	Macular exudate, Macular telangiectasia, Peripheral retinal avascularization, Rhegmatogenous reti...	ORPHA:891
Exudative Vitreoretinopathy 4	Osteopenia, Peripheral retinal avascularization, Posterior vitreous detachment, Vitreous hemorrha...	OMIM:601813
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome	Kyphosis, Platyspondyly, Osteoporosis	ORPHA:2786
Bruck Syndrome 2	Osteopenia, Flexion contracture, Elbow flexion contracture, Femoral bowing, Increased susceptibil...	OMIM:609220
Microcephalic Osteodysplastic Dysplasia, Saul-Wilson Type	Irregularity of vertebral bodies, Hypoplasia of the odontoid process, Small hand, Cone-shaped epi...	ORPHA:85172
Refractory Celiac Disease	Hypomagnesemia, Osteoporosis, Hypoalbuminemia, Hypocalcemia, Hypophosphatemia, Hypoproteinemia	ORPHA:398063
Osteogenesis Imperfecta, Type Xvi	Angulated humerus, Osteopenia, Bowing of the long bones, Microretrognathia, Rhizomelia, Recurrent...	OMIM:616229
Retinitis Pigmentosa 13	Bone spicule pigmentation of the retina, Optic disc drusen, Perifoveal ring of hyperautofluoresce...	OMIM:600059
Mucopolysaccharidosis, Type Iva	Joint laxity, Ulnar deviation of the wrist, Ovoid vertebral bodies, Coxa valga, Epiphyseal deform...	OMIM:253000
Familial Isolated Hyperparathyroidism	Osteopenia, Hypercalcemia, Generalized osteoporosis, Hypophosphatemia	ORPHA:99879
Urban-Rogers-Meyer Syndrome	Toe syndactyly, Camptodactyly of finger, Recurrent fractures, Short neck, Micrognathia, Kyphosis,...	ORPHA:3409
Rothmund-Thomson Syndrome Type 1	Osteopenia, Abnormal trabecular bone morphology, Short metacarpal, Plantar hyperkeratosis, Aplast...	ORPHA:221008
Parathyroid Carcinoma	Hypercalcemia	OMIM:608266
Spondyloepimetaphyseal Dysplasia, Sponastrime Type	Osteopenia, Metaphyseal widening, Laryngotracheomalacia, Coxa vara, Thoracic kyphosis, Neutropeni...	OMIM:271510
Dysosteosclerosis	Craniofacial hyperostosis, Increased bone mineral density, Recurrent fractures, Hypoplastic verte...	ORPHA:1782
Symphalangism, Proximal, 1A	Tarsal synostosis, Aplasia/Hypoplasia of the middle phalanges of the hand, Metacarpophalangeal sy...	OMIM:185800
Ulna And Fibula, Absence Of, With Severe Limb Deficiency	Short neck, Aplasia/hypoplasia of the extremities, Hemivertebrae, Femoral bowing, Foot oligodacty...	OMIM:276820
Hydrocephalus-Obesity-Hypogonadism Syndrome	Hypergonadotropic hypogonadism, Short neck, Cubitus valgus, Abnormality of the hypothalamus-pitui...	ORPHA:2183
Acrootoocular Syndrome	Short metacarpal, Small hypothenar eminence, Sandal gap, Abnormal finger flexion crease, Kyphosco...	ORPHA:2980
Coffin-Lowry Syndrome	Craniofacial hyperostosis, Short metacarpal, Brachydactyly, Pseudoepiphyses of the metacarpals, P...	ORPHA:192
Angel-Shaped Phalango-Epiphyseal Dysplasia	Hip osteoarthritis, Joint hyperflexibility, Hip dysplasia, Short middle phalanx of finger, Abnorm...	ORPHA:63442
Kyphomelic Dysplasia	Short humerus, Short metacarpal, Radial bowing, Short femur, Bowed humerus, Micromelia, Micrognat...	OMIM:211350
Geleophysic Dysplasia 1	Short palm, Osteopenia, Camptodactyly of finger, Coxa valga, Joint stiffness, Short foot, Short l...	OMIM:231050
Opsismodysplasia	Short metacarpal, Rhizomelia, Short neck, Hypoplasia of the odontoid process, Squared iliac bones...	OMIM:258480
Frontometaphyseal Dysplasia 2	Hip contracture, Short metacarpal, Congenital hip dislocation, Ulnar deviation of the hand, Elbow...	OMIM:617137
Rothmund-Thomson Syndrome Type 2	Osteopenia, Aplastic anemia, Patellar hypoplasia, Neutropenia, Short phalanx of finger, Genu varu...	ORPHA:221016
Exudative Vitreoretinopathy 1	Retinal detachment, Peripheral retinal avascularization, Recurrent fractures, Vitreous floaters, ...	OMIM:133780
Spondylometaphyseal Dysplasia, Axial	Rhizomelia, Splenomegaly, Proximal femoral metaphyseal irregularity, Coxa vara, Platyspondyly, Na...	OMIM:602271
Femoral-Facial Syndrome	Short fourth metatarsal, Limited elbow movement, Micrognathia, Maternal diabetes, Hemivertebrae, ...	OMIM:134780
Schneckenbecken Dysplasia	Hypoplastic scapulae, Ovoid vertebral bodies, Dumbbell-shaped long bone, Short neck, Snail-like i...	OMIM:269250
X-Linked Hypophosphatemia	Bowing of the legs, Generalized osteosclerosis, Trapezoidal distal femoral condyles, Reduced bone...	ORPHA:89936
Florid Cemento-Osseous Dysplasia	Mandibular osteomyelitis, Abnormal trabecular bone morphology, Multiple bony cystic lesions, Abno...	ORPHA:83451
Spondyloepiphyseal Dysplasia Tarda, X-Linked	Back pain, Lumbar hyperlordosis, Short neck, Hypoplastic iliac wing, Kyphosis, Limitation of join...	OMIM:313400
Spondyloepiphyseal Dysplasia, Kimberley Type	Platyspondyly, Osteoarthritis, Abnormal epiphysis morphology, Micromelia	ORPHA:93283
Bent Bone Dysplasia Syndrome 2	Osteopenia, Ulnar deviation of the hand, Bowed humerus, Short neck, Ulnar bowing, Femoral bowing,...	OMIM:620076
Dysosteosclerosis	Osteopenia, Sclerosis of hand bone, Micrognathia, Increased intervertebral space, Absent frontal ...	OMIM:224300
Idiopathic Hypercalciuria	Osteopenia, Abnormal circulating calcium concentration, Osteoporosis	ORPHA:2197
Dermatosparaxis Ehlers-Danlos Syndrome	Osteopenia, Osteomalacia, Coxa valga, Avascular necrosis of the capital femoral epiphysis, Microg...	ORPHA:1901
Osteogenesis Imperfecta, Type Xiii	Angulated humerus, Increased bone mineral density, Arachnodactyly, Recurrent fractures, Kyphoscol...	OMIM:614856
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome	Hallux valgus, Pes planus, Short metacarpal, Craniosynostosis, Micrognathia, Abnormality of the e...	ORPHA:166035
Spondylometaphyseal Dysplasia, Schmidt Type	Metaphyseal dysplasia, Abnormality of the knee, Irregular iliac crest, Abnormality of the epiphys...	ORPHA:93316
Hypoparathyroidism-Retardation-Dysmorphism Syndrome	Hypocalcemic seizures, Hypocalcemia, Patchy osteosclerosis, Hyperphosphatemia	OMIM:241410
Ventricular Extrasystoles With Syncopal Episodes-Perodactyly-Robin Sequence Syndrome	Camptodactyly of finger, Aplasia/Hypoplasia of the distal phalanges of the toes, Tapered finger, ...	ORPHA:3201
Moebius Syndrome	Syndactyly, Brachydactyly, Pes planus, Hypogonadotropic hypogonadism, Short neck, Micrognathia, S...	OMIM:157900
Atelosteogenesis Type I	Short femur, Rhizomelia, Micrognathia, Abnormal ossification involving the femoral head and neck,...	ORPHA:1190
Infantile Systemic Hyalinosis	Osteopenia, Camptodactyly of finger, Osteomalacia, Short neck, Micromelia, Recurrent fractures, J...	ORPHA:2176
2Q37 Microdeletion Syndrome	Finger syndactyly, Short metacarpal, Toe syndactyly, Bilateral single transverse palmar creases, ...	ORPHA:1001
Bardet-Biedl Syndrome 17	Mesoaxial polydactyly, Short fourth metatarsal, Mesoaxial hand polydactyly, Postaxial hand polyda...	OMIM:615994
Developmental And Epileptic Encephalopathy 95	Joint laxity, Short digit, Short fourth metatarsal, Multiple joint contractures, Single transvers...	OMIM:618143
Otospondylomegaepiphyseal Dysplasia, Autosomal Dominant	Epiphyseal dysplasia, Enlarged epiphyses, Premature osteoarthritis, Platyspondyly	OMIM:184840
Spondylocarpotarsal Synostosis Syndrome	Short neck, Coxa vara, Vertebral segmentation defect, Clinodactyly of the 5th finger, Vertebral f...	OMIM:272460
Spondylocamptodactyly Syndrome	Platyspondyly, Camptodactyly of finger, Scoliosis	ORPHA:3180
Abnormal Hair, Joint Laxity, And Developmental Delay	Short fourth metatarsal, Short fifth metatarsal, Joint hypermobility, 2-3 toe syndactyly, Increas...	OMIM:261990
Mucopolysaccharidosis, Type Ivb	Joint laxity, Ulnar deviation of the wrist, Ovoid vertebral bodies, Coxa valga, Epiphyseal deform...	OMIM:253010
Pachydermoperiostosis	Osteomyelitis, Elevated circulating growth hormone concentration, Splenomegaly, Limitation of joi...	ORPHA:2796
Ghosal Hematodiaphyseal Dysplasia	Myelofibrosis, Increased bone mineral density, Hyperostosis cranialis interna	OMIM:231095
Hereditary Hypophosphatemic Rickets With Hypercalciuria	Increased circulating osteocalcin level, Osteomalacia, Decreased circulating parathyroid hormone ...	ORPHA:157215
Robin Sequence With Cleft Mandible And Limb Anomalies	Proximal placement of thumb, Micrognathia, Aplasia of the epiglottis, Clinodactyly of the 5th fin...	OMIM:268305
Cantú Syndrome	Finger syndactyly, Broad hallux phalanx, Ovoid vertebral bodies, Short hallux, Coxa valga, Short ...	ORPHA:1517
Hypophosphatasia, Adult	Recurrent fractures, Osteomalacia, Abnormal foot morphology, Rickets, Increased susceptibility to...	OMIM:146300
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities	Epiphyseal dysplasia, Metaphyseal dysplasia, Single transverse palmar crease, Kyphoscoliosis, Cox...	OMIM:617425
Osteogenesis Imperfecta, Type Xvii	Joint laxity, Bowed humerus, Recurrent fractures, Kyphoscoliosis, Hip dislocation, Osteoporosis, ...	OMIM:616507
Dyggve-Melchior-Clausen Disease	Glenoid fossa hypoplasia, Short neck, Coxa vara, Iliac crest serration, Rhizomelia, Hypoplasia of...	ORPHA:239
Paget Disease Of Bone 3	Fractures of the long bones, Osteolysis, Patchy osteosclerosis	OMIM:167250
Mucopolysaccharidosis Type 4	Bowing of the long bones, Coxa valga, Short neck, Hyperlordosis, Kyphosis, Spinal canal stenosis,...	ORPHA:582
Tibial Hemimelia	Hemivertebrae, Aplasia of the 2nd metacarpal, Aplasia of the 4th metacarpal, Knee flexion contrac...	ORPHA:93322
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2	Osteopenia, Epiphyseal dysplasia, Bowing of the long bones, Joint laxity, Kyphoscoliosis, Hypopla...	OMIM:615349
Osteogenesis Imperfecta, Type X	Osteopenia, Joint laxity, Bowing of the long bones, Short femur, Thoracic scoliosis, Rhizomelia, ...	OMIM:613848
Spondyloepiphyseal Dysplasia Congenita	Lumbar hyperlordosis, Ovoid vertebral bodies, Limited elbow movement, Short neck, Hypoplasia of t...	OMIM:183900
Autosomal Recessive Stickler Syndrome	Epiphyseal dysplasia, Micrognathia, Genu valgum, Irregular vertebral endplates, Platyspondyly, Jo...	ORPHA:250984
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type	Iliac crest serration, Micromelia, Short neck, Wide distal femoral metaphysis, Delayed epiphyseal...	OMIM:613320
Achondroplasia	Lumbar hyperlordosis, Rhizomelia, Hip joint hypermobility, Bowing of the legs, Short proximal pha...	ORPHA:15
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3	Vertebral fusion, Sacral dimple, Patent ductus arteriosus, Short long bone, Vertebral segmentatio...	OMIM:618845
Exudative Vitreoretinopathy 2, X-Linked	Retinal detachment, Peripheral retinal avascularization, Subretinal exudate, Intraretinal exudate...	OMIM:305390
Osteogenesis Imperfecta, Type Ii	Crumpled long bones, Broad long bones, Recurrent fractures, Absent ossification of calvaria, Mult...	OMIM:166210
Pseudodiastrophic Dysplasia	Rhizomelia, Phalangeal dislocation, Elbow dislocation, Platyspondyly, Talipes equinovarus, Scoliosis	ORPHA:85174
Geroderma Osteodysplasticum	Beaking of vertebral bodies, Hyperextensibility of the finger joints, Osteopenia, Recurrent fract...	OMIM:231070
Chromosome 17P13.3, Telomeric, Duplication Syndrome	Short metacarpal, Brachydactyly, Short toe, Split hand, Short tibia, Finger symphalangism, Contra...	OMIM:612576
Oncogenic Osteomalacia	Fibrous dysplasia of the bones, Increased susceptibility to fractures, Hypocalcemia, Hypophosphat...	ORPHA:352540
Reese Retinal Dysplasia	Remnants of the hyaloid vascular system, Retinal dysplasia	OMIM:266400
Short-Rib Thoracic Dysplasia 18 With Polydactyly	Radial bowing, Single transverse palmar crease, Postaxial polydactyly, Micromelia, Micrognathia, ...	OMIM:617866
Metaphyseal Dysostosis, Impaired Intellectual Development, And Conductive Deafness	Metaphyseal widening, Flat glenoid fossa, Coxa vara, Short palm, Genu varum, Joint laxity, Lumbar...	OMIM:250420
Spondyloepiphyseal Dysplasia, Maroteaux Type	Platyspondyly, Genu valgum	OMIM:184095
Stüve-Wiedemann Syndrome	Osteopenia, Micromelia, Metaphyseal widening, Flexion contracture, Knee flexion contracture, Hypo...	ORPHA:3206
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies	Osteopenia, Hypercalcemia, Craniosynostosis	OMIM:614732
Acrofacial Dysostosis, Palagonia Type	Finger syndactyly, Short neck, Micrognathia, Small hand, Abnormal form of the vertebral bodies, S...	ORPHA:1787
Rhyns Syndrome	Osteopenia, Radial bowing, Decreased response to growth hormone stimulation test, Osteoporosis, P...	OMIM:602152
Hypophosphatemic Rickets, Autosomal Dominant	Hypophosphatemic rickets, Abnormality of the lower limb, Rickets, Osteomalacia	OMIM:193100
Pseudodiastrophic Dysplasia	Lumbar hyperlordosis, Rhizomelia, Phalangeal dislocation, Short neck, Micrognathia, Hypoplasia of...	OMIM:264180
Autosomal Dominant Hypocalcemia	Optic atrophy, Reduced bone mineral density, Hyperphosphatemia, Hypocalcemia, Hypomagnesemia	ORPHA:428
Hyperparathyroidism-Jaw Tumor Syndrome	Pancreatic adenocarcinoma, Testicular neoplasm, Primary hyperparathyroidism, Osteoporosis, Abnorm...	ORPHA:99880
Fanconi Renotubular Syndrome 3	Rickets, Bowing of the legs	OMIM:615605
Paget Disease Of Bone 2, Early-Onset	Hypercalcemia, Fractures of the long bones, Osteolysis, Increased susceptibility to fractures, Sc...	OMIM:602080
Retinitis Pigmentosa With Or Without Skeletal Anomalies	Metaphyseal dysplasia, Short metacarpal, Craniosynostosis, Micrognathia, Metaphyseal chondrodyspl...	OMIM:250410
Hypercalcemia, Infantile, 2	Hypercalcemia, Hypophosphatemia	OMIM:616963
Oculoskeletodental Syndrome	Hypercalcemia, Hypocalcemia	ORPHA:557003
Short Stature, Impaired Intellectual Development, Microcephaly, Hypotonia, And Ocular Anomalies	Short fourth metatarsal, Overlapping toe, Kyphosis, Bilateral camptodactyly, Scoliosis, Prominent...	OMIM:619557
Mccune-Albright Syndrome	Abnormal femur morphology, Aneurysmal bone cyst, Hyperthyroidism, Osteomalacia, Precocious pubert...	ORPHA:562
Parathyroid Carcinoma	Pancreatic adenocarcinoma, Testicular neoplasm, Primary hyperparathyroidism, Osteoporosis, Abnorm...	ORPHA:143
Ring Chromosome 10 Syndrome	Hypocalcemia	ORPHA:1438
Osteopetrosis, Autosomal Recessive 5	Optic disc pallor, Increased bone mineral density, Cranial hyperostosis, Optic atrophy, Decreased...	OMIM:259720
Familial Osteodysplasia, Anderson Type	Recurrent fractures, Aplastic clavicle, Missing ribs, Elbow dislocation, Kyphosis, Bifid femur, A...	ORPHA:2769
Lethal Kniest-Like Dysplasia	Abnormal ischium morphology, Broad long bones, Short neck, Hypoplastic ilia, Mesomelic/rhizomelic...	ORPHA:2347
Spondylometaphyseal Dysplasia, Algerian Type	Metaphyseal dysplasia, Lumbar hyperlordosis, Bowed humerus, Kyphoscoliosis, Short tubular bones o...	OMIM:184253
Rothmund-Thomson Syndrome	Osteopenia, Hypoplasia of the ulna, Abnormal trabecular bone morphology, Plantar hyperkeratosis, ...	ORPHA:2909
Familial Isolated Hypoparathyroidism	Hypocalcemia	ORPHA:2238
Sponastrime Dysplasia	Delayed epiphyseal ossification, Osteopathia striata, Metaphyseal widening, Generalized joint lax...	ORPHA:93357
Tuberous Sclerosis Complex	Pancreatic endocrine tumor, Pituitary adenoma, Parathyroid hyperplasia, Pheochromocytoma, Parathy...	ORPHA:805
Acrocephalopolydactyly	Genu recurvatum, Short neck, Hepatosplenomegaly, Short long bone, Limb undergrowth, Brachydactyly	ORPHA:221054
Ivic Syndrome	Limited elbow movement, Preaxial polydactyly, Triphalangeal thumb, Hypoplasia of the ulna, Limite...	OMIM:147750
Contractural Arachnodactyly, Congenital	Osteopenia, Short neck, Micrognathia, Knee flexion contracture, Wrist flexion contracture, Arachn...	OMIM:121050
Stuve-Wiedemann Syndrome 2	Bowing of the long bones, Short long bone, Scoliosis, Camptodactyly, Thrombocytopenia	OMIM:619751
Congenital Absence/Hypoplasia Of Fingers Excluding Thumb, Unilateral	Short thumb, Short metacarpal, Duplication of the distal phalanx of the 5th finger, Abnormal meta...	ORPHA:973
Hypotonia-Cystinuria Syndrome	Hypocalcemia	OMIM:606407
Thanatophoric Dysplasia Type 1	Bowing of the long bones, Short femur, Micromelia, Joint stiffness, Hypoplastic ilia, Abnormal sa...	ORPHA:1860
X-Linked Agammaglobulinemia	Arthritis, Osteomyelitis, Hypocalcemia	ORPHA:47
Occipital Horn Syndrome	Osteopenia, Coxa vara, Humerus varus, Short palm, Large iliac wing, Abnormality of the wrist, Ost...	ORPHA:198
Autosomal Recessive Primary Microcephaly	Abnormal cortical bone morphology	ORPHA:2512
Peters-Plus Syndrome	Single transverse palmar crease, Proximal placement of thumb, Short neck, Limited elbow movement,...	OMIM:261540
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type	Osteopenia, Short femur, Fractured radius, Decreased fibular diameter, Short neck, Micrognathia, ...	OMIM:616897
Spondyloepimetaphyseal Dysplasia, X-Linked, With Hypomyelinating Leukodystrophy	Kyphoscoliosis, Short neck, Hypoplasia of the odontoid process, Metaphyseal widening, Flexion con...	OMIM:300232
Hypophosphatasia, Infantile	Craniosynostosis, Bowing of the legs, Micromelia, Vertebral clefting, Increased susceptibility to...	OMIM:241500
Vitreoretinal Degeneration, Snowflake Type	Retinal detachment, Snowflake vitreoretinal degeneration, Optically empty vitreous, Retinal dots	OMIM:193230
Dent Disease	Enlarged epiphyses, Bulging epiphyses, Thin bony cortex, Enlargement of the ankles, Osteomalacia,...	ORPHA:1652
Tyrosinemia Type 1	Splenomegaly, Rickets of the lower limbs	ORPHA:882
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes	Hypokalemia, Hypocalcemia, Hypomagnesemia	OMIM:175500
Metaphyseal Chondrodysplasia, Jansen Type	Osteopenia, Hip contracture, Bowing of the long bones, Hypoparathyroidism, Micrognathia, Metaphys...	OMIM:156400
Pitt-Hopkins Syndrome	Pes planus, Single transverse palmar crease, Supernumerary nipple, Tapered finger, Short neck, Cr...	ORPHA:2896
Trisomy 8P	Short fourth metatarsal, Short fifth metatarsal, Overlapping toe, Sacral dimple, Clinodactyly of ...	ORPHA:264450
Basal Cell Nevus Syndrome 1	Vertebral fusion, Ovarian fibroma, Down-sloping shoulders, Kyphoscoliosis, Palmar pits, Plantar p...	OMIM:109400
Dyssegmental Dysplasia, Rolland-Desbuquois Type	Bowing of the long bones, Broad long bones, Micromelia, Short neck, Micrognathia, Equinovarus def...	OMIM:224400
Sanjad-Sakati Syndrome	Hyperphosphatemia, Hypocalcemia, Patchy osteosclerosis	ORPHA:2323
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia	Osteopenia, Congenital hip dislocation, Decreased response to growth hormone stimulation test, Mi...	OMIM:616007
Yunis-Varon Syndrome	Congenital hip dislocation, Anterior concavity of thoracic vertebrae, Single transverse palmar cr...	OMIM:216340
Brachydactyly, Type B2	Tarsal synostosis, Proximal placement of thumb, Aplasia/Hypoplasia of the distal phalanges of the...	OMIM:611377
Gracile Bone Dysplasia	Decreased skull ossification, Hypocalcemia	OMIM:602361
Gillessen-Kaesbach-Nishimura Syndrome	Ulnar deviation of the hand, Short neck, Micrognathia, Wide anterior fontanel, Metaphyseal wideni...	OMIM:263210
Weill-Marchesani Syndrome 1	Thin bony cortex, Lumbar hyperlordosis, Joint stiffness, Patent ductus arteriosus, Spinal canal s...	OMIM:277600
Schnitzler Syndrome	Arthritis, Increased bone mineral density	ORPHA:37748
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities	Osteopenia, Hyponatremia, Calcinosis, Optic atrophy, Hypokalemia, Hypocalcemia	OMIM:617913
Spondyloepimetaphyseal Dysplasia, Aggrecan Type	Joint laxity, Lumbar hyperlordosis, Rhizomelia, Short neck, Metaphyseal widening, Irregular epiph...	OMIM:612813
Focal Dermal Hypoplasia	Congenital hip dislocation, Osteopathia striata, Short metatarsal, Foot oligodactyly, Spina bifid...	OMIM:305600
Neurodevelopmental Disorder With Ataxia, Hypotonia, And Microcephaly	Tapered finger, Short 3rd toe, Short thumb, Hypothyroidism, Split hand, Intrinsic hand muscle atr...	OMIM:618569
Anonychia-Ectrodactyly	Split hand, Aplasia of metacarpal bones	OMIM:106900
Granulomatous Slack Skin	Hypercalcemia	ORPHA:33111
Chondrodysplasia, Blomstrand Type	Generalized osteosclerosis, Advanced ossification of carpal bones, Advanced tarsal ossification	OMIM:215045
Osteopetrosis, Autosomal Recessive 2	Osteomyelitis, Recurrent fractures, Mandibular osteomyelitis, Cranial hyperostosis, Optic atrophy...	OMIM:259710
Thanatophoric Dysplasia	Micromelia, Joint stiffness, Abnormal sacroiliac joint morphology, Kyphosis, Patent ductus arteri...	ORPHA:2655
Microcephalic Osteodysplastic Primordial Dwarfism, Type I	Single transverse palmar crease, Micromelia, Short neck, Micrognathia, Delayed epiphyseal ossific...	OMIM:210710
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects	Osteopenia, Short neck, Micrognathia, Knee dislocation, Shoulder dislocation, Dislocated radial h...	OMIM:245600
Hyperoxaluria, Primary, Type I	Hyperoxaluria, Increased bone mineral density, Choroidal neovascularization, Retinal crystals, Op...	OMIM:259900
Otopalatodigital Syndrome Type 1	Increased bone mineral density, Abnormal vertebral segmentation and fusion, Limitation of joint m...	ORPHA:90650
Fibrochondrogenesis 1	Hypoplastic scapulae, Broad long bones, Rhizomelia, Dumbbell-shaped long bone, Hypoplastic ischia...	OMIM:228520
Gm1-Gangliosidosis, Type Iii	Kyphosis, Flared iliac wing, Platyspondyly, Scoliosis, Anterior beaking of lumbar vertebrae, Hypo...	OMIM:230650
Tarsal-Carpal Coalition Syndrome	Tarsal synostosis, Cubitus valgus, Humeroradial synostosis, Progressive fusion 2nd-5th pip joints...	OMIM:186570
Generalized Pustular Psoriasis	Hyponatremia, Elevated circulating C-reactive protein concentration, Arthritis, Hypoalbuminemia, ...	ORPHA:247353
Spondyloepiphyseal Dysplasia Tarda, Autosomal Dominant	Lumbar hyperlordosis, Kyphoscoliosis, Short neck, Avascular necrosis of the capital femoral epiph...	OMIM:184100
Genetic Recurrent Myoglobinuria	Highly elevated creatine kinase, Hyperphosphatemia, Hyperkalemia, Hypocalcemia	ORPHA:99845
Colchicine Poisoning	Hyponatremia, Abnormal blood ion concentration, Hypophosphatemia, Hypokalemia, Hypocalcemia, Hypo...	ORPHA:31824
Lowry-Wood Syndrome	Epiphyseal dysplasia, Joint stiffness, Elbow dislocation, Coxa vara, Irregular epiphyses, Platysp...	ORPHA:1824
Platyspondylic Dysplasia, Torrance Type	Bowing of the long bones, Hypoplastic scapulae, Micromelia, Abnormal carpal morphology, Hypoplasi...	ORPHA:85166
Refsum Disease	Short metacarpal, Abnormal foot morphology, Splenomegaly, Hammertoe, Abnormal epiphysis morpholog...	ORPHA:773
Nicolaides-Baraitser Syndrome	Long toe, Hallux valgus, Short metacarpal, Sandal gap, Single transverse palmar crease, Broad 2nd...	OMIM:601358
Intellectual Developmental Disorder With Short Stature, Facial Anomalies, And Speech Defects	Microretrognathia, Short 4th metacarpal, Short clavicles, Joint laxity	OMIM:606220
Pseudoaminopterin Syndrome	Single transverse palmar crease, Limited elbow movement, Micrognathia, Asplenia, Patchy reduction...	ORPHA:221120
Refsum Disease, Classic	Short fourth metatarsal, Pes cavus	OMIM:266500
Schimke Immunoosseous Dysplasia	Osteopenia, Pancytopenia, Lumbar hyperlordosis, Ovoid vertebral bodies, Short neck, Bilateral cry...	OMIM:242900
Spondyloenchondrodysplasia With Immune Dysregulation	Metaphyseal dysplasia, Lumbar hyperlordosis, Kyphoscoliosis, Short iliac bones, Metaphyseal scler...	OMIM:607944
Congenital Disorder Of Glycosylation, Type Iig	Osteopenia, Thoracic scoliosis, Single transverse palmar crease, Short neck, Micrognathia, Verteb...	OMIM:611209
Hypophosphatasia	Hypercalcemia, Recurrent fractures, Craniosynostosis	ORPHA:436
Acromesomelic Dysplasia 3	Hypoplasia of the ulna, Brachydactyly, Hypergonadotropic hypogonadism, Tarsal synostosis, Elevate...	OMIM:609441
Nivelon-Nivelon-Mabille Syndrome	Short metacarpal, Micromelia, Trapezoidal vertebral body, Short phalanx of finger, Brachydactyly	OMIM:600092
Fibrochondrogenesis 2	Micrognathia, Hypoplastic ilia, Metaphyseal widening, Hypoplastic pubic bone, Short long bone, Pl...	OMIM:614524
Frank-Ter Haar Syndrome	Short palm, Osteopenia, Bowing of the long bones, Anterior concavity of thoracic vertebrae, Kypho...	OMIM:249420
Lenz-Majewski Hyperostotic Dwarfism	Finger syndactyly, Increased bone mineral density, Aplastic clavicle, Abnormal metacarpal morphol...	ORPHA:2658
Peroxisome Biogenesis Disorder 12A (Zellweger)	Cholelithiasis, Patent ductus arteriosus, Abnormal cortical bone morphology, Wide anterior fontanel	OMIM:614886
Osteopetrosis, Autosomal Recessive 8	Optic atrophy, Osteopetrosis	OMIM:615085
Stickler Syndrome Type 1	Osteoarthritis, Joint hyperflexibility, Platyspondyly, Abnormal epiphysis morphology, Abnormal ve...	ORPHA:90653
Autosomal Dominant Kenny-Caffey Syndrome	Papilledema, Retinal calcification, Cortical thickening of long bone diaphyses, Hyperphosphatemia...	ORPHA:93325
Achondrogenesis, Type Ii	Microretrognathia, Absent vertebral body mineralization, Broad long bones, Short tubular bones of...	OMIM:200610
Campomelic Dysplasia	Poorly ossified cervical vertebrae, 11 pairs of ribs, Bowing of the long bones, Small abnormally ...	ORPHA:140
Oculoskeletodental Syndrome	Hypercalcemia, Elbow flexion contracture, Hypocalcemia	OMIM:618440
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii	Osteopenia, Abnormal intervertebral disk morphology, Micromelia, Short neck, Micrognathia, Abnorm...	ORPHA:2636
Timothy Syndrome	Hypocalcemia	OMIM:601005
Congenital Disorder Of Glycosylation, Type Ig	Retinal detachment, Hypocalcemia	OMIM:607143
Small Cell Carcinoma Of The Bladder	Hypercalcemia	ORPHA:284400
Odontochondrodysplasia 2 With Hearing Loss And Diabetes	Osteopenia, Precocious puberty, Short toe, Cone-shaped epiphyses of the phalanges of the hand, Pl...	OMIM:619269
Hypercholanemia, Familial 1	Rickets	OMIM:607748
Bile Acid Conjugation Defect 1	Rickets	OMIM:619232
Robinow Syndrome, Autosomal Recessive 1	Short neck, Micrognathia, Hemivertebrae, Short palm, Thoracic hemivertebrae, Duplication of the d...	OMIM:268310
Pallister-Hall Syndrome	Thyroid dysgenesis, Decreased circulating cortisol level, Decreased response to growth hormone st...	OMIM:146510
Osteogenesis Imperfecta, Type Iv	Biconcave flattened vertebrae, Recurrent fractures, Kyphosis, Reduced bone mineral density, Incre...	OMIM:166220
Short Fifth Metacarpals-Insulin Resistance Syndrome	Splenomegaly, Spherocytosis, Hyperinsulinemia, Short 5th metacarpal	ORPHA:66518
Acrocraniofacial Dysostosis	Craniosynostosis, Tapered finger, Coxa valga, Micrognathia, Abnormal form of the vertebral bodies...	ORPHA:949
Laron Syndrome	Limb undergrowth, Decreased serum insulin-like growth factor 1, Short long bone, Delayed menarche	OMIM:262500
Spondylo-Ocular Syndrome	Pes planus, Abnormal intervertebral disk morphology, Short neck, Osteoporosis, Joint hyperflexibi...	ORPHA:85194
Bone Fragility With Contractures, Arterial Rupture, And Deafness	Osteopenia, Contracture of the proximal interphalangeal joint of the 2nd finger, Decreased palmar...	OMIM:612394
Spondylodysplastic Ehlers-Danlos Syndrome	Osteopenia, Multiple joint contractures, Single transverse palmar crease, Micrognathia, Metaphyse...	ORPHA:536471
Cole-Carpenter Syndrome 2	Osteopenia, Microretrognathia, Recurrent fractures, Kyphosis, Platyspondyly, Lambdoidal craniosyn...	OMIM:616294
Coloboma Of Optic Nerve	Retinal detachment, Optic disc coloboma	OMIM:120430
Diastrophic Dysplasia	Joint hyperflexibility, Increased bone mineral density, Camptodactyly of finger, Joint stiffness	ORPHA:628
Infantile Myofibromatosis	Hypercalcemia, Bone cyst, Osteolysis, Limitation of joint mobility	ORPHA:2591
Dahlberg-Borer-Newcomer Syndrome	Hypocalcemia	ORPHA:1563
Combined Oxidative Phosphorylation Deficiency 47	Toe syndactyly, Short neck, Cryptorchidism, Platyspondyly, Cone-shaped epiphyses of the distal ph...	OMIM:618958
Achondroplasia	Limited hip extension, Bowing of the legs, Generalized joint laxity, Femoral bowing, Narrow great...	OMIM:100800
Tricho-Retino-Dento-Digital Syndrome	Abnormality of the hand, Short 5th metacarpal, Brachydactyly	ORPHA:1264
Bangstad Syndrome	Abnormality of the parathyroid gland, Hyperinsulinemia, Polycystic ovaries, Deviation of finger, ...	ORPHA:1227
Intellectual Developmental Disorder, X-Linked, Syndromic, Snyder-Robinson Type	Hyperextensibility of the finger joints, Long palm, Single transverse palmar crease, Kyphoscolios...	OMIM:309583
Celiac Disease, Susceptibility To, 1	Osteoporosis, Hypocalcemia, Rickets	OMIM:212750
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome	Short humerus, Short metacarpal, Thrombocytopenia, Reticulocytopenia, Rhizomelic arm shortening, ...	ORPHA:508542
Hyperparathyroidism, Transient Neonatal	Osteopenia, Hyperparathyroidism, Short femur, Metaphyseal spurs, Recurrent fractures, Patent duct...	OMIM:618188
Thanatophoric Dysplasia Type 2	Micromelia, Kyphosis, Patent ductus arteriosus, Limitation of joint mobility, Joint hyperflexibil...	ORPHA:93274
45,X/46,Xy Mixed Gonadal Dysgenesis	Hallux valgus, Streak ovary, Unilateral cryptorchidism, Micrognathia, Bilateral cryptorchidism, H...	ORPHA:1772
Spondylometaphyseal Dysplasia, Sedaghatian Type	Short metacarpal, Iliac crest serration, Metaphyseal chondrodysplasia, Cone-shaped epiphysis, Rhi...	ORPHA:93317
Cleidocranial Dysplasia 1	Micrognathia, Short middle phalanx of the 2nd finger, Absent frontal sinuses, Coxa vara, Hypoplas...	OMIM:119600
Primary Intestinal Lymphangiectasia	Hypoproteinemia, Hypoalbuminemia, Hypocalcemia, Hypomagnesemia	ORPHA:90362
Spondyloepiphyseal Dysplasia-Brachydactyly-Speech Disorder Syndrome	Broad long bones, Abnormal metatarsal morphology, Short neck, Cryptorchidism, Cuboid-shaped verte...	ORPHA:163654
Oculodentodigital Dysplasia	Finger syndactyly, Toe syndactyly, Camptodactyly of finger, Short hallux, Aplasia/Hypoplasia of t...	ORPHA:2710
Mucolipidosis Iii Alpha/Beta	Soft tissue swelling of interphalangeal joints, Craniosynostosis, Irregular carpal bones, Split h...	OMIM:252600
Stuve-Wiedemann Syndrome 1	Single transverse palmar crease, Short neck, Micrognathia, Tibial bowing, Femoral bowing, Knee fl...	OMIM:601559
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia	Hemolytic anemia, Reticulocytosis, Rickets, Hepatosplenomegaly, Decreased mean corpuscular volume	OMIM:611590
Proteus-Like Syndrome	Thymus hyperplasia, Genu recurvatum, Lower limb asymmetry, Splenomegaly, Abnormality of the parat...	ORPHA:2969
Catel-Manzke Syndrome	Joint laxity, Short humerus, Short metacarpal, Short femur, Single transverse palmar crease, Shor...	OMIM:616145
Brachyolmia Type 3	Short neck, Kyphosis, Proximal femoral metaphyseal irregularity, Platyspondyly, Short femoral nec...	OMIM:113500
Nance-Horan Syndrome	Short metacarpal	ORPHA:627
Blue Diaper Syndrome	Hyperphosphatemia, Hypercalcemia	ORPHA:94086
Autosomal Recessive Malignant Osteopetrosis	Recurrent fractures, Craniosynostosis, Reduced bone mineral density, Osteopetrosis, Hypocalcemia,...	ORPHA:667
Thanatophoric Dysplasia, Type I	Bowing of the long bones, Small abnormally formed scapulae, Short neck, Hypoplastic ilia, Flared ...	OMIM:187600
Osteopetrosis, Autosomal Recessive 7	Abnormal trabecular bone morphology, Femur fracture, Splenomegaly, Osteopetrosis, Anemia	OMIM:612301
Cholestasis, Progressive Familial Intrahepatic, 1	Osteopenia, Cholelithiasis, Rickets, Splenomegaly	OMIM:211600
Fanconi Renotubular Syndrome 2	Osteopenia, Recurrent fractures, Osteomalacia, Rickets, Elevated circulating parathyroid hormone ...	OMIM:613388
Hyperparathyroidism, Neonatal Self-Limited Primary, With Hypercalciuria	Hypercalcemia	OMIM:239199
Mitochondrial Trifunctional Protein Deficiency	Pigmentary retinopathy, Hypocalcemia	ORPHA:746
Thanatophoric Dysplasia, Type Ii	Small abnormally formed scapulae, Micromelia, Hypoplastic ilia, Flared metaphysis, Short greater ...	OMIM:187601
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome	Osteopenia, Multiple joint contractures, Micrognathia, Metaphyseal widening, Arachnodactyly, Oste...	ORPHA:536467
Very Long Chain Acyl-Coa Dehydrogenase Deficiency	Elevated circulating creatine kinase concentration, Increased circulating free fatty acid level, ...	ORPHA:26793
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type	Short palm, Rhizomelia, Micrognathia, Metaphyseal chondrodysplasia, Abnormality of the calcaneus,...	ORPHA:163966
Cholera	Hyponatremia, Hypocalcemia, Hypokalemia, Abnormal blood ion concentration	ORPHA:173
Chromosome 8Q21.11 Deletion Syndrome	Syndactyly, Short metacarpal, Micrognathia, Short neck, Cryptorchidism, Camptodactyly, Absent pal...	OMIM:614230
Pyknoachondrogenesis	Craniofacial hyperostosis, Abnormal intramembranous ossification, Micromelia, Short iliac bones, ...	ORPHA:3003
Bacterial Toxic-Shock Syndrome	Osteomyelitis, Elevated circulating creatine kinase concentration, Elevated circulating creatinin...	ORPHA:36234
Paternal Uniparental Disomy Of Chromosome 1	Hypercalcemia, Recurrent fractures, Craniosynostosis, Abnormal retinal morphology on macular OCT,...	ORPHA:251004
Chilton-Okur-Chung Neurodevelopmental Syndrome	Pes planus, Short fourth metatarsal, Short fifth metatarsal, Single transverse palmar crease, Ant...	OMIM:619841
Enthesitis-Related Juvenile Idiopathic Arthritis	Back pain, Abnormal metatarsal morphology, Knee osteoarthritis, Enthesitis, Abnormal shoulder mor...	ORPHA:85438
Osteoporosis-Pseudoglioma Syndrome	Osteopenia, Recurrent fractures, Kyphoscoliosis, Kyphosis, Metaphyseal widening, Osteoporosis, Ti...	OMIM:259770
Brachyolmia, Maroteaux Type	Platyspondyly, Scoliosis, Abnormal form of the vertebral bodies	ORPHA:93302
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss	Rickets	OMIM:602722
Stickler Syndrome, Type I	Arachnodactyly, Micrognathia, Joint stiffness, Kyphosis, Irregular femoral epiphysis, Osteoarthri...	OMIM:108300
Diarrhea 10, Protein-Losing Enteropathy Type	Hyponatremia, Hypertriglyceridemia, Hypoalbuminemia, Hypocalcemia, Hypomagnesemia	OMIM:618183
Spondyloocular Syndrome	Long toe, Osteopenia, Pes planus, Overlapping toe, Arachnodactyly, Femur fracture, Unilateral cry...	OMIM:605822
Renal Tubular Acidosis Iii	Rickets, Osteomalacia	OMIM:267200
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia	Type I diabetes mellitus, Osteoporosis, Rickets	OMIM:560000
Neuroleptic Malignant Syndrome	Hyponatremia, Elevated circulating creatine kinase concentration, Hyperkalemia, Hyperphosphatemia...	ORPHA:94093
Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures	Short metacarpal, Sacral dimple, Short neck, Short metatarsal, Pseudohypoparathyroidism, Cubitus ...	OMIM:617157
Campomelic Dysplasia	Thoracic scoliosis, Anterior tibial bowing, Cervical kyphosis, Micrognathia, Delayed epiphyseal o...	OMIM:114290
Diffuse Neonatal Hemangiomatosis	Hypercalcemia	ORPHA:2123
Duane-Radial Ray Syndrome	Syndactyly, Hypoplasia of the ulna, Short humerus, Sandal gap, Radial deviation of the hand, Pes ...	OMIM:607323
Gm1 Gangliosidosis	Camptodactyly of finger, Hyperlordosis, Joint stiffness, Kyphosis, Patent ductus arteriosus, Sple...	ORPHA:354
Bartsocas-Papas Syndrome 1	Syndactyly, Short metacarpal, Hypoplastic scapulae, Absent thumb, Absent radius, Short thumb, Uln...	OMIM:263650
Trisomy 20P	Finger syndactyly, Camptodactyly of finger, Talipes, Short neck, Micrognathia, Preaxial hand poly...	ORPHA:261318
Craniometaphyseal Dysplasia	Craniofacial hyperostosis, Osteopetrosis	ORPHA:1522
Spondyloepimetaphyseal Dysplasia, Genevieve Type	Joint laxity, Short neck, Flared metaphysis, Advanced ossification of carpal bones, Flat acetabul...	OMIM:610442
Osteopetrosis With Renal Tubular Acidosis	Retinal atrophy, Recurrent fractures, Abnormal retinal morphology, Elevated circulating creatine ...	ORPHA:2785
Hypocalciuric Hypercalcemia, Familial, Type Iii	Hypercalcemia, Hypermagnesemia, Osteomalacia, Hypophosphatemia	OMIM:600740
Pheochromocytoma--Islet Cell Tumor Syndrome	Hypertensive retinopathy, Hypercalcemia	OMIM:171420
Fanconi-Bickel Syndrome	Osteopenia, Bowing of the long bones, Diabetes mellitus, Rickets	ORPHA:2088
Osteogenesis Imperfecta	Osteopenia, Cervical kyphosis, Micromelia, Micrognathia, Abnormal tibia morphology, Flexion contr...	ORPHA:666
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness	Increased bone mineral density, Osteopetrosis	OMIM:617306
Cartilage-Hair Hypoplasia	Abnormality of retinal pigmentation, Abnormally ossified vertebrae, Joint hyperflexibility, Hypoc...	ORPHA:175
Juvenile Nephropathic Cystinosis	Hyponatremia, Hypouricemia, Elevated circulating creatinine concentration, Hypokalemia, Hypocalce...	ORPHA:411634
Hall-Riggs Syndrome	Joint stiffness, Platyspondyly, Abnormal epiphysis morphology, Scoliosis, Limb undergrowth, Abnor...	ORPHA:2107
Dyssegmental Dysplasia, Silverman-Handmaker Type	Broad long bones, Micromelia, Bowing of the legs, Hypoplastic ilia, Short neck, Anisospondyly, Mi...	ORPHA:1865
Microphthalmia With Limb Anomalies	Micrognathia, Abnormal form of the vertebral bodies, Tibial bowing, Camptodactyly of 2nd-5th fing...	ORPHA:1106
Faciocardiomelic Syndrome	Osteopenia, Micrognathia, Cuboid-shaped vertebral bodies, Slender long bone, Polydactyly, Hypopla...	OMIM:612731
Osteogenesis Imperfecta, Type I	Osteopenia, Biconcave flattened vertebrae, Recurrent fractures, Femoral bowing, Increased suscept...	OMIM:166200
Diaphyseal Medullary Stenosis With Malignant Fibrous Histiocytoma	Osteopenia, Diaphyseal cortical sclerosis, Patchy osteosclerosis, Fractures of the long bones, Os...	OMIM:112250
Camurati-Engelmann Disease	Increased bone mineral density, Diaphyseal sclerosis, Cortical thickening of long bone diaphyses,...	OMIM:131300
Mucopolysaccharidosis, Type Vii	Anterior beaking of lower thoracic vertebrae, Short neck, Metatarsus adductus, Thoracolumbar kyph...	OMIM:253220
Townes-Brocks Syndrome 1	2-4 finger syndactyly, Pseudoepiphyses of second metacarpal, 1-2 toe syndactyly, Talipes, Preaxia...	OMIM:107480
Craniotubular Dysplasia, Ikegawa Type	Metaphyseal dysplasia, Thin bony cortex, Increased intervertebral space, Broad ischia, Diaphyseal...	OMIM:619727
Non-Functioning Paraganglioma	Hypertensive retinopathy, Hypercalcemia	ORPHA:94080
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly	Hypoproteinemia, Hypocalcemia	OMIM:235255
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii	Distal symphalangism, Coxa vara, Tibial bowing, Hypoplastic iliac wing, Clinodactyly of the 5th f...	OMIM:210720
Secondary Hypoparathyroidism Due To Impaired Parathormon Secretion	Abnormality of the parathyroid gland, Secondary hyperparathyroidism	ORPHA:140286
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome	Hypoplasia of the ulna, Finger syndactyly, Aplasia/Hypoplasia of the fibula, Micrognathia, Crypto...	ORPHA:2256
Beemer-Ertbruggen Syndrome	Increased bone mineral density	ORPHA:1237
Hypercalcemia, Infantile, 1	Hypercalcemia	OMIM:143880
Cystinosis	Nephrogenic diabetes insipidus, Rickets, Delayed puberty, Type I diabetes mellitus, Hypothyroidism	ORPHA:213
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Osteomyelitis, Abnormal blood ion concentration, Hypoalbuminemia, Hypocalcemia, Hypomagnesemia, D...	ORPHA:37042
Camptodactyly Syndrome, Guadalajara Type 3	Osteopenia, Short neck, Small hand, Short foot, Spina bifida occulta, Thickened cortex of long bo...	ORPHA:488434
Schwartz-Jampel Syndrome	Micromelia, Short neck, Micrognathia, Coxa vara, Wrist flexion contracture, Abnormally ossified v...	ORPHA:800
Majeed Syndrome	Increased bone mineral density, Osteomyelitis, Flexion contracture, Synovitis, Increased suscepti...	ORPHA:77297
Double Outlet Right Ventricle	Hypocalcemia	ORPHA:3426
14Q22Q23 Microdeletion Syndrome	Finger syndactyly, Toe syndactyly, Diabetes insipidus, Anterior pituitary hypoplasia, Adrenal hyp...	ORPHA:264200
Neu-Laxova Syndrome	Osteopenia, Osteomalacia, Micromelia, Micrognathia, Flexion contracture, Osteoporosis, Rickets, L...	ORPHA:2671
Hypocalciuric Hypercalcemia, Familial, Type I	Hypermagnesemia, Hypercalcemia	OMIM:145980
Osteopathia Striata-Cranial Sclerosis Syndrome	Facial hyperostosis, Increased bone mineral density, Osteopetrosis, Coarse metaphyseal trabecular...	ORPHA:2780
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome	Rod-cone dystrophy, Hypocalcemia, Hypocalcemic seizures	ORPHA:2237
Mucolipidosis Ii Alpha/Beta	Osteopenia, Micrognathia, Metaphyseal widening, Thoracolumbar kyphoscoliosis, Hypoplasia of the o...	OMIM:252500
Rajab Interstitial Lung Disease With Brain Calcifications 1	Osteopenia, Joint laxity, Rickets, Reduced bone mineral density, Hypoalbuminemia, Hypocalcemia, U...	OMIM:613658
Turner Syndrome Due To Structural X Chromosome Anomalies	Osteopenia, Short neck, Micrognathia, Reduced bone mineral density, Dermatoglyphic ridges abnorma...	ORPHA:99413
Mosaic Monosomy X	Osteopenia, Short neck, Micrognathia, Reduced bone mineral density, Dermatoglyphic ridges abnorma...	ORPHA:99228
Monosomy X	Osteopenia, Short neck, Micrognathia, Reduced bone mineral density, Dermatoglyphic ridges abnorma...	ORPHA:99226
Turner Syndrome	Osteopenia, Short neck, Micrognathia, Reduced bone mineral density, Dermatoglyphic ridges abnorma...	ORPHA:881
Ulbright-Hodes Syndrome	Short humerus, Short metacarpal, Maternal diabetes, Short neck, Micrognathia, Cryptorchidism, Hum...	ORPHA:3404
Moebius Syndrome	Aplasia/Hypoplasia of the thumb, Finger syndactyly, Brachydactyly, Hypogonadotropic hypogonadism,...	ORPHA:570
Uremic Pruritus	Hypermagnesemia, Renal hypophosphatemia, Hypercalcemia, Increased blood urea nitrogen	ORPHA:94059
Cardiomyopathy-Cataract-Hip Spine Disease Syndrome	Platyspondyly, Abnormal intervertebral disk morphology, Osteoarthritis, Joint stiffness	ORPHA:1345
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome	Hypocalcemic tetany, Hypocalcemia, Hypomagnesemia	ORPHA:73224
Rhabdoid Tumor	Hypercalcemia	ORPHA:69077
Osteopetrosis, Autosomal Recessive 3	Osteopetrosis, Cranial hyperostosis, Diaphyseal sclerosis, Optic nerve compression	OMIM:259730
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 2	11 pairs of ribs, Joint hypermobility, Joint stiffness, Short long bone, Scoliosis, Short palm, T...	OMIM:619184
Floating-Harbor Syndrome	11 pairs of ribs, Joint laxity, Brachydactyly, Ivory epiphyses of the distal phalanges of the han...	OMIM:136140
Werner Syndrome	Abnormality of retinal pigmentation, Increased bone mineral density, Osteoporosis, Joint stiffness	ORPHA:902
Gaucher Disease Type 1	Osteopenia, Increased bone mineral density, Osteoarthritis, Osteolysis, Pathologic fracture	ORPHA:77259
Tricho-Dento-Osseous Syndrome	Increased bone mineral density	ORPHA:3352
Digeorge Syndrome	Pilonidal sinus, Parathyroid agenesis, Decreased circulating parathyroid hormone level, Micrognat...	OMIM:188400
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome	Hypoproteinemia, Hypocalcemia	ORPHA:1655
Spondyloenchondrodysplasia	Metaphyseal dysplasia, Pancytopenia, Autoimmune hemolytic anemia, Decreased response to growth ho...	ORPHA:1855
Familial Hypocalciuric Hypercalcemia	Renal hypophosphatemia, Hypercalcemia, Osteomalacia, Hypermagnesemia, Hypocalcemic seizures	ORPHA:405
Trichorhinophalangeal Syndrome, Type Ii	Osteopenia, Syndactyly, Short metacarpal, Scapular winging, Thoracolumbar scoliosis, Single trans...	OMIM:150230
Marshall Syndrome	Radial bowing, Coxa valga, Hypoplastic ilia, Micrognathia, Ulnar bowing, Irregular femoral epiphy...	OMIM:154780
Baller-Gerold Syndrome	Limited elbow movement, Micrognathia, Patellar hypoplasia, Spina bifida occulta, Abnormal vertebr...	OMIM:218600
Hypocalciuric Hypercalcemia, Familial, Type Ii	Hypermagnesemia, Hypercalcemia	OMIM:145981
Fanconi Renotubular Syndrome 1	Rickets, Osteomalacia	OMIM:134600
Cranioectodermal Dysplasia 1	Joint laxity, Retinal dystrophy, Sagittal craniosynostosis, Osteoporosis, Hypocalcemia	OMIM:218330
Myhre Syndrome	Craniofacial hyperostosis, Brachydactyly, Joint stiffness, Precocious puberty, Cryptorchidism, Pl...	ORPHA:2588
Pycnodysostosis	Joint laxity, Increased bone mineral density, Generalized osteosclerosis, Increased susceptibilit...	ORPHA:763
Velocardiofacial Syndrome	Retinal vascular tortuosity, Hypocalcemia	OMIM:192430
Thymic Neuroendocrine Tumor	Osteopenia, Hypercalcemia	ORPHA:97289
Brachyolmia Type 2	Platyspondyly	OMIM:613678
Ulnar-Mammary Syndrome	Deformed radius, Ectopic posterior pituitary, Anterior pituitary hypoplasia, Aplasia of the 3rd m...	OMIM:181450
Hyperparathyroidism 2 With Jaw Tumors	Hypercalcemia	OMIM:145001
Schimke Immuno-Osseous Dysplasia	Wide capital femoral epiphyses, Lumbar hyperlordosis, Ovoid vertebral bodies, Abnormality of thyr...	ORPHA:1830
Aspartylglucosaminuria	Pes planus, Abnormal morphology of ulna, Joint stiffness, Splenomegaly, Arthritis, Scoliosis, Ant...	ORPHA:93
Morquio Syndrome C	Platyspondyly	OMIM:252300
Hyperparathyroidism, Neonatal Severe	Calcinosis, Hypercalcemia, Recurrent fractures, Hypophosphatemia	OMIM:239200
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly	Microretrognathia, Rhizomelia, Postaxial polydactyly, Cryptorchidism, Patent ductus arteriosus, S...	OMIM:616300
Primary Hyperoxaluria	Optic disc pallor, Hyperoxaluria, Choroidal neovascularization, Recurrent fractures, Generalized ...	ORPHA:416
Ethylene Glycol Poisoning	Hyperkalemia, Hypocalcemia	ORPHA:31826
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency	Elevated creatine kinase after exercise, Hypercalcemia	ORPHA:284426
Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction	Rickets, Recurrent fractures	OMIM:268315
Bile Acid Synthesis Defect, Congenital, 1	Splenomegaly, Rickets	OMIM:607765
Glucose-Galactose Malabsorption	Hypernatremia, Hypercalcemia	ORPHA:35710
Pallister-Hall Syndrome	Adrenal hypoplasia, Hemivertebrae, Gonadotropin deficiency, Microretrognathia, Mesoaxial polydact...	ORPHA:672
Pearson Syndrome	Hypophosphatemia, Pigmentary retinopathy, Hypokalemia, Hypocalcemia, Hypomagnesemia, Hyperalaninemia	ORPHA:699
Gaucher Disease	Osteopenia, Increased bone mineral density, Osteomyelitis, Recurrent fractures, Elevated circulat...	ORPHA:355
Osteogenesis Imperfecta, Type Xv	Recurrent fractures, Platyspondyly, Bowing of limbs due to multiple fractures, Scoliosis, Joint h...	OMIM:615220
Lowe Oculocerebrorenal Syndrome	Camptodactyly of finger, Osteomalacia, Wrist swelling, Kyphosis, Cryptorchidism, Hip dislocation,...	OMIM:309000
Xylt1-Cdg	Joint laxity, Pes planus, Coxa valga, Flared metaphysis, Short long bone, Short femoral neck, Sho...	ORPHA:370930
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly	Hypoplasia of the ulna, Metaphyseal spurs, Postaxial polydactyly, Metaphyseal widening, Preaxial ...	OMIM:613091
Short-Rib Thoracic Dysplasia 4 With Or Without Polydactyly	Short long bone, Polydactyly, Scoliosis, Brachydactyly	OMIM:613819
Infantile Liver Failure Syndrome 3	Abnormal acetabulum morphology, Abnormality of the epiphysis of the femoral head, Splenomegaly, H...	OMIM:618641
Occipital Horn Syndrome	Joint laxity, Short humerus, Pes planus, Pelvic bone exostoses, Coxa valga, Capitate-hamate fusio...	OMIM:304150
Short-Rib Thoracic Dysplasia 20 With Polydactyly	Absent gallbladder, Postaxial polydactyly, Short neck, Micrognathia, Wide anterior fontanel, Prea...	OMIM:617925
Charge Syndrome	Abnormal palmar dermatoglyphics, Decreased response to growth hormone stimulation test, Micrognat...	OMIM:214800
Metaphyseal Chondromatosis With D-2-Hydroxyglutaric Aciduria	Multiple joint contractures, Short neck, Metaphyseal widening, Irregular vertebral endplates, Met...	ORPHA:99646
Alg12-Cdg	Decreased serum insulin-like growth factor 1, Sandal gap, Ulnar deviation of the wrist, Proximal ...	ORPHA:79324
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type	Rickets	OMIM:219900
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young	Diabetes mellitus, Rickets	OMIM:616026
Trichothiodystrophy	Osteopenia, Increased bone mineral density, Multiple joint contractures, Craniosynostosis, Macula...	ORPHA:33364
Dysostosis, Stanescu Type	Massively thickened long bone cortices, Increased bone mineral density	ORPHA:1798
Cog1-Cdg	Osteopenia, Irregularity of vertebral bodies, Rhizomelia, Kyphoscoliosis, Short neck, Coxa valga,...	ORPHA:263508
Alpha-Mannosidosis, Infantile Form	Osteopenia, Joint laxity, Pancytopenia, Craniosynostosis, Short neck, Joint stiffness, Cranial hy...	ORPHA:309282
Poems Syndrome	Sclerosis of hand bone, Papilledema, Sclerosis of skull base, Sclerosis of foot bone	ORPHA:2905
Coffin-Lowry Syndrome	Hyperextensibility of the finger joints, Short metacarpal, Bifid sternum, Pes planus, Single tran...	OMIM:303600
Igg4-Related Thyroid Disease	Hypocalcemia	ORPHA:64744
Dental Anomalies And Short Stature	Platyspondyly, Herniation of intervertebral nuclei, Scoliosis, Narrow vertebral interpedicular di...	OMIM:601216
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans	Brain abscess, Lumbar hyperlordosis, Rhizomelia, Kyphosis, Wide anterior fontanel, Tibial bowing,...	OMIM:616482
Lethal Congenital Contracture Syndrome 10	Thoracic scoliosis, Stiff neck, Short neck, Micrognathia, Femoral bowing, Short long bone, Hypopl...	OMIM:617022
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome	Hyperextensibility of the finger joints, Hypocalcemia, Hyperbilirubinemia	ORPHA:163979
Congenital Bile Acid Synthesis Defect Type 2	Extramedullary hematopoiesis, Rickets	ORPHA:79303
Mucopolysaccharidosis, Type X	Hyperlordosis, Genu valgum, Hip dysplasia, Posterior scalloping of vertebral bodies, Platyspondyl...	OMIM:619698
Acrofrontofacionasal Dysostosis 1	Short metacarpal, Acetabular dysplasia, Broad thumb, Short distal phalanx of finger	OMIM:201180
Isotretinoin-Like Syndrome	Hypocalcemia	ORPHA:2306
Gm1 Gangliosidosis Type 1	Hepatosplenomegaly, Hypoplastic vertebral bodies, Flared iliac wing, Short long bone, Platyspondy...	ORPHA:79255
Late-Onset Isolated Acth Deficiency	Hyponatremia, Hypercalcemia, Hyperkalemia, Hyperuricemia, Generalized bone demineralization	ORPHA:199299
Hennekam Syndrome	Hypocalcemia, Camptodactyly of finger, Craniosynostosis	ORPHA:2136
Infection-Related Hemolytic Uremic Syndrome	Hyponatremia, Septic arthritis, Hyperkalemia, Hypocalcemia	ORPHA:544482
Gitelman Syndrome	Hypermagnesemia, Gout, Hypokalemia, Hypocalcemia, Hypomagnesemia	ORPHA:358
Desmosterolosis	Increased bone mineral density, Osteopetrosis	ORPHA:35107
Short-Rib Thoracic Dysplasia 12	Hypoplastic scapulae, Bowing of the legs, Short neck, Splenomegaly, Short toe, Patent ductus arte...	OMIM:269860
22Q11.2 Deletion Syndrome	Retinal arteriolar tortuosity, Optic atrophy, Multiple suture craniosynostosis, Joint hyperflexib...	ORPHA:567
Saethre-Chotzen Syndrome	Hallux valgus, Syndactyly, Absent first metatarsal, Toe syndactyly, Partial duplication of the di...	OMIM:101400
Oculocerebrorenal Syndrome Of Lowe	Hyperparathyroidism, Micrognathia, Osteomalacia, Cryptorchidism, Joint hyperflexibility, Hyperald...	ORPHA:534
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1	Osteopenia, Joint laxity, Pes planus, Congenital hip dislocation, Arachnodactyly, Protrusio aceta...	OMIM:225400
Raine Syndrome	Arthrogryposis multiplex congenita, Increased bone mineral density, Subperiosteal bone formation,...	OMIM:259775
Multiple Endocrine Neoplasia, Type Iv	Hyperparathyroidism, Elevated circulating growth hormone concentration, Pancreatic endocrine tumo...	OMIM:610755
Myhre Syndrome	Vertebral fusion, Overlapping toe, Short neck, Joint stiffness, Cryptorchidism, Short toe, Patent...	OMIM:139210
Multiple Myeloma	Osteopenia, Hypercalcemia, Elevated circulating creatinine concentration, Hyperproteinemia, Patho...	ORPHA:29073
Alkaptonuria	Joint stiffness, Cartilage destruction, Osteoarthritis, Reduced bone mineral density, Arthritis, ...	ORPHA:56
Dyssegmental Dysplasia, Silverman-Handmaker Type	Bowing of the long bones, Micromelia, Micrognathia, Cryptorchidism, Short long bone, Talipes equi...	OMIM:224410
Pheochromocytoma	Hypertensive retinopathy, Hypercalcemia	OMIM:171300
Craniofacioskeletal Syndrome	Hypocalcemia	OMIM:300712
Leukocyte Adhesion Deficiency, Type Iii	Osteopetrosis	OMIM:612840
Floating-Harbor Syndrome	11 pairs of ribs, Short metacarpal, Brachydactyly, Kyphoscoliosis, Short neck, Avascular necrosis...	ORPHA:2044
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly	Syndactyly, Bowing of the long bones, Hypoplastic scapulae, Postaxial polydactyly, Micromelia, Fl...	OMIM:614091
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome	Increased circulating ferritin concentration, Osteopetrosis	ORPHA:3240
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency	Adrenal cortical sclerosis, Autoimmune hemolytic anemia, Severe B lymphocytopenia, Aplasia of the...	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	Increased bone mineral density, Camptodactyly of finger, Tarsal synostosis, Carpal synostosis, Ab...	ORPHA:90652
Pycnodysostosis	Increased bone mineral density, Osteolytic defects of the distal phalanges of the hand	OMIM:265800
Exercise-Induced Malignant Hyperthermia	Hypocalcemia, Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration	ORPHA:466650
Desmosterolosis	Generalized osteosclerosis, Abnormal circulating cholesterol concentration, Arthrogryposis multip...	OMIM:602398
Birt-Hogg-Dubé Syndrome	Parathyroid adenoma, Medullary thyroid carcinoma	ORPHA:122
Wilson Disease	Hypoparathyroidism, Hemolytic anemia, Osteomalacia, Thrombocytopenia, Osteoarthritis, Splenomegal...	OMIM:277900
Pancreatic Triacylglycerol Lipase Deficiency	Iron deficiency anemia, Osteoporosis, Osteomalacia, Rickets	ORPHA:309031
Ellis-Van Creveld Syndrome	Capitate-hamate fusion, Postaxial hand polydactyly, Cryptorchidism, Genu valgum, Postaxial foot p...	OMIM:225500
Bartter Syndrome, Type 1, Antenatal	Osteopenia, Hyperchloriduria, Increased serum prostaglandin E2, Hypercalcemia, Hypochloremia, Hyp...	OMIM:601678
12Q14 Microdeletion Syndrome	Osteopoikilosis	ORPHA:94063
Liver Disease, Severe Congenital	Joint laxity, Hyponatremia, Elevated circulating alpha-fetoprotein concentration, Increased circu...	OMIM:619991
Atypical Werner Syndrome	Sclerosis of hand bone, Abnormality of retinal pigmentation, Increased bone mineral density, Hype...	ORPHA:79474
Kindler Epidermolysis Bullosa	Finger syndactyly, Camptodactyly of finger, Flexion contracture, Anemia, Palmoplantar keratoderma...	ORPHA:2908
Multiple Endocrine Neoplasia, Type I	Pancreatic islet cell adenoma, Elevated circulating growth hormone concentration, Pituitary adeno...	OMIM:131100
Stickler Syndrome	Arachnodactyly, Protrusio acetabuli, Micrognathia, Kyphosis, Osteoarthritis, Hip dislocation, Spi...	ORPHA:828
Alg9-Cdg	Microretrognathia, Ulnar deviation of the hand, Rhizomelia, Short neck, Micrognathia, Wide anteri...	ORPHA:79328
Ablepharon-Macrostomia Syndrome	Short metacarpal, Toe syndactyly, Cutaneous finger syndactyly, Talipes equinovarus, Hypoplastic n...	OMIM:200110
Chand Syndrome	Short fifth metatarsal	ORPHA:1401
Multiple Endocrine Neoplasia, Type Iia	Hyperparathyroidism, Thyroid C cell hyperplasia, Increased circulating cortisol level, Pheochromo...	OMIM:171400
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly	Syndactyly, Pancreatic fibrosis, Postaxial polydactyly, Preaxial polydactyly, Femoral bowing, Sho...	OMIM:615503
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome	Osteopenia, Hypertriglyceridemia, Hypercalcemia, Craniosynostosis, Joint hypermobility	ORPHA:369837
Fanconi-Bickel Syndrome	Rickets, Osteomalacia	OMIM:227810
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies	Joint laxity, Hip contracture, Hyperextensibility of the finger joints, Flexion contracture, Elbo...	OMIM:619503
Hereditary Pheochromocytoma-Paraganglioma	Retinal capillary hemangioma, Hypertensive retinopathy, Hypercalcemia	ORPHA:29072
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly	Pancreatic fibrosis, Preaxial hand polydactyly, Postaxial hand polydactyly, Disproportionate shor...	OMIM:263520
Erdheim-Chester Disease	Increased bone mineral density, Osteomyelitis, Osteolysis	ORPHA:35687
Distal Renal Tubular Acidosis	Hemolytic anemia, Osteomalacia, Rickets, Increased susceptibility to fractures, Reduced bone mine...	ORPHA:18
Cystinosis, Nephropathic	Diabetes mellitus, Splenomegaly, Metaphyseal widening, Rickets, Genu valgum, Primary hypothyroidi...	OMIM:219800
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities	Joint laxity, Hypocalcemia, Optic nerve hypoplasia	OMIM:620330
Gaucher Disease Type 3	Increased bone mineral density, Osteolysis, Increased susceptibility to fractures	ORPHA:77261
Addison Disease	Hyponatremia, Hypercalcemia, Hyperkalemia, Increased circulating renin level, Hyperuricemia, Gene...	ORPHA:85138
Grfoma	Neoplasm of the pancreas, Elevated circulating growth hormone concentration, Neoplasm of the thym...	ORPHA:97261
Vipoma	Neoplasm of the pancreas, Diabetes mellitus, Follicular thyroid carcinoma, Elevated circulating g...	ORPHA:97282
Monosomy 13Q34	Hypercalcemia	ORPHA:96168
Somatostatinoma	Neoplasm of the pancreas, Diabetes mellitus, Elevated circulating growth hormone concentration, A...	ORPHA:97283
Acute Adrenal Insufficiency	Hyponatremia, Hypercalcemia, Hyperkalemia, Increased circulating renin level, Hyperuricemia	ORPHA:95409
Sclerosteosis 1	Papilledema, Sclerotic scapulae, Optic atrophy, Facial palsy secondary to cranial hyperostosis, C...	OMIM:269500
Robinow Syndrome, Autosomal Dominant 1	Broad toe, Brachydactyly, Sacral dimple, Rhizomelia, Limited elbow extension and supination, Shor...	OMIM:180700
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome	Hypercalcemia	ORPHA:476126
Encephalocraniocutaneous Lipomatosis	Craniofacial hyperostosis, Abnormal cartilage morphology, Bone cyst, Osteolysis	ORPHA:2396
Infantile Nephropathic Cystinosis	Rickets, Abnormality of thyroid physiology	ORPHA:411629
Glucagonoma	Neoplasm of the pancreas, Diabetes mellitus, Elevated circulating growth hormone concentration, A...	ORPHA:97280
Ppoma	Neoplasm of the pancreas, Elevated circulating growth hormone concentration, Abnormality of the t...	ORPHA:97278
Microsporidiosis	Brain abscess, Osteomyelitis, Abnormality of the spleen, Abnormality of the parathyroid gland, Th...	ORPHA:2552
Short-Rib Thoracic Dysplasia 15 With Polydactyly	Postaxial polydactyly, Splenomegaly, Postaxial hand polydactyly, Patent ductus arteriosus, Aplasi...	OMIM:617088
Generalized Arterial Calcification Of Infancy	Abnormality of the knee, Calcification of the auricular cartilage, Osteomalacia, Adrenal calcific...	ORPHA:51608
Short-Rib Thoracic Dysplasia 21 Without Polydactyly	Short humerus, Trident pelvis, Bowed humerus, Flexion contracture, Short long bone, Small pituita...	OMIM:619479
Neurofibromatosis, Type I	Tibial pseudarthrosis, Genu valgum, Pheochromocytoma, Scoliosis, Parathyroid adenoma	OMIM:162200
T-Cell Immunodeficiency With Thymic Aplasia	Hypocalcemic tetany	ORPHA:83471
Fontaine Progeroid Syndrome	Syndactyly, Absent nipple, Craniosynostosis, Micrognathia, Cryptorchidism, Patent ductus arterios...	OMIM:612289
Williams Syndrome	Osteopenia, Joint laxity, Increased bone mineral density, Abnormal circulating lipid concentratio...	ORPHA:904
Immunodeficiency 82 With Systemic Inflammation	Osteomyelitis, Decreased proportion of naive T cells, Osteomalacia, Splenomegaly, Arthritis, T ly...	OMIM:619381
Aspartylglucosaminuria	Joint laxity, Kyphosis, Hypoplastic frontal sinuses, Vacuolated lymphocytes, Platyspondyly, Spond...	OMIM:208400
Primary Fanconi Renotubular Syndrome	Hypophosphatemic rickets, Osteomalacia, Increased susceptibility to fractures	ORPHA:3337
Johanson-Blizzard Syndrome	Joint laxity, Hypocalcemia, Conjugated hyperbilirubinemia, Increased VLDL cholesterol concentration	OMIM:243800
Williams-Beuren Syndrome	Osteopenia, Joint laxity, Hypercalcemia, Retinal arteriolar tortuosity, Flexion contracture, Oste...	OMIM:194050
Schinzel-Giedion Midface Retraction Syndrome	Sclerosis of skull base, Increased density of long bones, Thickened cortex of long bones	OMIM:269150
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome	Abnormal pelvis bone morphology, Camptodactyly of finger, Abnormality of the hand, Kyphosis, Cryp...	ORPHA:2273
Sarcoidosis	Bone cyst, Hypercalcemia	ORPHA:797
Beckwith-Wiedemann Syndrome	Adrenocortical cytomegaly, Polycythemia, Cryptorchidism, Adrenocortical carcinoma, Wide anterior ...	ORPHA:116
Pmm2-Cdg	Osteopenia, Joint laxity, Pes planus, Multiple joint contractures, Hypogonadotropic hypogonadism,...	ORPHA:79318
Sotos Syndrome	Joint laxity, Hip contracture, Hypercalcemia, Ankle flexion contracture, Craniosynostosis, Bilate...	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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All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

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

Gene Summary

IMPC Data Collections

IMPC Phenotype Summary

Phenotypes

lacZ Expression

Associated Images

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X-ray

Anti-nuclear antibody assay

Legacy Phenotype Associated Images

Human diseases caused by Pth mutations

Histopathology

IMPC related publications

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Access Data Release 20.1 Data