Gene Summary

Name:
collagen, type I, alpha 2
Synonyms:
Col1a-2,  Cola2,  Cola-2

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
decreased lymphocyte cell number Col1a2tm1b(EUCOMM)Wtsi HOM Early adult 3.72×10-05
enlarged heart Col1a2tm1b(EUCOMM)Wtsi HOM Early adult 0.00
increased large unstained cell number Col1a2tm1b(EUCOMM)Wtsi HOM Early adult 1.22×10-07
decreased circulating amylase level Col1a2tm1b(EUCOMM)Wtsi HOM   Early adult 5.18×10-05
increased heart weight Col1a2tm1b(EUCOMM)Wtsi HOM Early adult 2.38×10-07
abnormal tibia morphology Col1a2tm1b(EUCOMM)Wtsi HOM Early adult 3.53×10-05
enlarged spleen Col1a2tm1b(EUCOMM)Wtsi HOM Early adult 0.00
decreased grip strength Col1a2tm1b(EUCOMM)Wtsi HOM Early adult 1.36×10-10
increased neutrophil cell number Col1a2tm1b(EUCOMM)Wtsi HOM Early adult 1.45×10-06
increased circulating alkaline phosphatase level Col1a2tm1b(EUCOMM)Wtsi HOM Early adult 5.40×10-16
increased bone mineral density Col1a2tm1b(EUCOMM)Wtsi HOM Early adult 2.49×10-06
dilated heart left ventricle Col1a2tm1b(EUCOMM)Wtsi HOM Early adult 1.07×10-07
abnormal femur morphology Col1a2tm1b(EUCOMM)Wtsi HOM Early adult 6.11×10-07
decreased total body fat amount Col1a2tm1b(EUCOMM)Wtsi HOM Early adult 8.95×10-05
decreased blood urea nitrogen level Col1a2tm1b(EUCOMM)Wtsi HOM Early adult 1.55×10-05
increased leukocyte cell number Col1a2tm1b(EUCOMM)Wtsi HOM Early adult 5.95×10-05
increased bone mineral content Col1a2tm1b(EUCOMM)Wtsi HOM Early adult 3.04×10-07

Download data as:  TSV  XLS

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lacZ Expression

An assay measuring the expression of lacZ shows the tissue where the gene is expressed.

Anatomy Images Zygosity Mutant Expr
Aorta  Wholemount images heterozygote 100% (4 of 4)
Bone  Wholemount images heterozygote 100% (4 of 4)
Brain  Wholemount images heterozygote 100% (4 of 4)
Brainstem  Wholemount images heterozygote 100% (4 of 4)
Cartilage tissue  Wholemount images heterozygote 100% (4 of 4)
Cerebellum  Wholemount images heterozygote 100% (4 of 4)
Esophagus  Wholemount images heterozygote 75% (3 of 4)
Gall bladder  Wholemount images heterozygote 100% (4 of 4)
Hippocampus  Wholemount images heterozygote 50% (2 of 4)
Hypothalamus  Wholemount images heterozygote 100% (4 of 4)
Kidney  Wholemount images heterozygote 50% (2 of 4)
Large intestine  Wholemount images heterozygote 25% (1 of 4)
Lower urinary tract  Wholemount images heterozygote 100% (4 of 4)
Lung  Wholemount images heterozygote 50% (2 of 4)
Olfactory lobe  Wholemount images heterozygote 50% (2 of 4)
Oral epithelium  Wholemount images heterozygote 50% (2 of 4)
Ovary  Wholemount images heterozygote 50% (2 of 4)
Oviduct  Wholemount images heterozygote 50% (2 of 4)
Peripheral nervous system  Wholemount images heterozygote 0.0% (0 of 4)
Pituitary gland  Wholemount images heterozygote 25% (1 of 4)
Prostate gland  Wholemount images heterozygote 25% (1 of 4)
Skin  Wholemount images heterozygote 75% (3 of 4)
Small intestine  Wholemount images heterozygote 50% (2 of 4)
Spinal cord  Wholemount images heterozygote 50% (2 of 4)
Stomach  Wholemount images heterozygote 50% (2 of 4)
Testis  Wholemount images heterozygote 50% (2 of 4)
Thyroid gland  Wholemount images heterozygote 25% (1 of 4)
Trachea  Wholemount images heterozygote 50% (2 of 4)
Uterus  Wholemount images heterozygote 50% (2 of 4)
Vas deferens  Wholemount images heterozygote Not available
Vascular system  Wholemount images heterozygote 50% (2 of 4)
Adrenal gland N/A heterozygote 0.0% (0 of 4)
Brown adipose tissue N/A heterozygote 0.0% (0 of 4)
Cecum N/A heterozygote 0.0% (0 of 2)
Cerebral cortex N/A heterozygote 0.0% (0 of 4)
Eye N/A heterozygote 0.0% (0 of 4)
Heart N/A heterozygote 0.0% (0 of 4)
Liver N/A heterozygote 0.0% (0 of 4)
Lymph node N/A heterozygote 0.0% (0 of 4)
Mammary gland N/A heterozygote 0.0% (0 of 4)
Pancreas N/A heterozygote 0.0% (0 of 4)
Parathyroid gland N/A heterozygote 0.0% (0 of 4)
Peyer's patch N/A heterozygote 0.0% (0 of 4)
Skeletal muscle N/A heterozygote 25% (1 of 4)
Spleen N/A heterozygote 0.0% (0 of 4)
Striatum N/A heterozygote 0.0% (0 of 4)
Thymus N/A heterozygote 0.0% (0 of 4)
Trigeminal V nerve N/A heterozygote 0.0% (0 of 2)
White adipose tissue N/A heterozygote 0.0% (0 of 4)

An assay measuring the expression of lacZ shows the tissue where the gene is expressed.

Anatomy Images Zygosity Mutant Expr
Brain N/A heterozygote Ambiguous
Brain N/A homozygote Ambiguous
Ear N/A heterozygote Ambiguous
Ear N/A homozygote Ambiguous
Embryo N/A heterozygote Ambiguous
Embryo N/A homozygote Ambiguous
Eye N/A heterozygote Ambiguous
Eye N/A homozygote Ambiguous
Footplate N/A heterozygote Ambiguous
Footplate N/A homozygote Ambiguous
Forebrain N/A heterozygote Ambiguous
Forebrain N/A homozygote Ambiguous
Forelimb N/A heterozygote Ambiguous
Forelimb N/A homozygote Ambiguous
Handplate N/A heterozygote Ambiguous
Handplate N/A homozygote Ambiguous
Head N/A heterozygote Ambiguous
Head N/A homozygote Ambiguous
Heart N/A heterozygote Ambiguous
Heart N/A homozygote Ambiguous
Hindbrain N/A heterozygote Ambiguous
Hindbrain N/A homozygote Ambiguous
Hindlimb N/A heterozygote Ambiguous
Hindlimb N/A homozygote Ambiguous
Liver N/A heterozygote Ambiguous
Liver N/A homozygote Ambiguous
Lung N/A heterozygote Ambiguous
Lung N/A homozygote Ambiguous
Mandibular process N/A heterozygote Ambiguous
Mandibular process N/A homozygote Ambiguous
Maxillary process N/A heterozygote Ambiguous
Maxillary process N/A homozygote Ambiguous
Midbrain N/A heterozygote Ambiguous
Midbrain N/A homozygote Ambiguous
Oral cavity N/A heterozygote Ambiguous
Oral cavity N/A homozygote Ambiguous
Skin N/A heterozygote Ambiguous
Skin N/A homozygote Ambiguous
Tail somite N/A heterozygote Ambiguous
Tail somite N/A homozygote Ambiguous
Tail N/A heterozygote Ambiguous
Tail N/A homozygote Ambiguous

Background staining occurs in wild type mice and embryos at an incidental rate.

Anatomy Background staining in controls (WT)
adrenal gland 0.0%
aorta 0.0%
bone 0.0%
brain 0.0%
brainstem 0.0%
brown adipose tissue 0.0%
cartilage tissue 0.0%
cecum 0.0%
cerebellum 0.0%
cerebral cortex 0.0%
esophagus 0.0%
eye 0.0%
gall bladder 0.0%
heart 0.0%
hippocampus 0.0%
hypothalamus 0.0%
kidney 0.0%
large intestine 0.0%
liver 0.0%
lower urinary tract 0.0%
lung 0.0%
lymph node 0.0%
mammary gland 0.0%
olfactory lobe 0.0%
oral epithelium 0.0%
ovary 0.0%
oviduct 0.0%
pancreas 0.0%
parathyroid gland 0.0%
peripheral nervous system 0.0%
peyers patch 0.0%
pituitary gland 0.0%
prostate gland 0.0%
skeletal muscle 0.0%
skin 0.0%
small intestine 0.0%
spinal cord 0.0%
spleen 0.0%
stomach 0.0%
striatum 0.0%
testis 0.0%
thymus 0.0%
thyroid gland 0.0%
trachea 0.0%
trigeminal v nerve 0.0%
uterus 0.0%
vas deferens Unavailable
vascular system 0.0%
white adipose tissue 0.0%

Background staining occurs in wild type mice and embryos at an incidental rate.

Background staining occurs in wild type embryos at a measurable rate.

Anatomy Background staining in controls(WT)
brain 0.0%
ear 0.0%
embryo 0.0%
eye 0.0%
footplate 0.0%
forebrain 0.0%
forelimb 0.0%
handplate 0.0%
head 0.0%
heart 0.0%
hindbrain 0.0%
hindlimb 0.0%
liver 0.0%
lung 0.0%
mandibular process 0.0%
maxillary process 0.0%
midbrain 0.0%
oral cavity 0.0%
skin 0.0%
tail 0.0%
tail somite group 0.0%

Associated Images

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

X-ray

XRay Images Skull Dorso Ventral Orientation

11 Images

Adult LacZ

LacZ Images Wholemount

13 Images

X-ray

XRay Images Skull Lateral Orientation

11 Images

Eye Morphology

VIP of left fundus

14 Images

X-ray

XRay Images Whole Body Dorso Ventral

11 Images

X-ray

XRay Images Whole Body Lateral Orientation

11 Images

Eye Morphology

VIP of left eye

14 Images

Eye Morphology

VIP of right eye

14 Images

Eye Morphology

VIP of right fundus

13 Images

X-ray

XRay Images Forepaw

11 Images

Immunophenotyping

Panel B FCS file(s)

6 Images

Immunophenotyping

Panel A FCS file(s)

6 Images

Human diseases caused by Col1a2 mutations

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

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

The table below shows human diseases predicted to be associated to Col1a2 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Osteomesopyknosis
Increased bone mineral density OMIM:166450
Metaphyseal Modeling Abnormality, Skin Lesions, And Spastic Paraplegia
Increased bone mineral density OMIM:250500
12q14 microdeletion syndrome
Osteopoikilosis DECIPHER:76
Granulomas, Congenital Cerebral
Neonatal death OMIM:306300
Genitourinary Tract Anomalies
Neonatal death OMIM:305690
Metaphyseal Chondrodysplasia, Spahr Type
Progressive leg bowing, Bowing of the long bones, Metaphyseal dysplasia, Hyperlordosis, Metaphyse... ORPHA:2501
Pyknoachondrogenesis
Increased bone mineral density OMIM:265880
Gnathodiaphyseal Dysplasia
Osteopenia, Bowing of the long bones, Recurrent fractures, Mandibular osteomyelitis, Scoliosis, T... ORPHA:53697
Melorheostosis With Osteopoikilosis
Osteopoikilosis, Abnormal cortical bone morphology ORPHA:1879
Osteomesopyknosis
Increased bone mineral density, Abnormal cortical bone morphology ORPHA:2777
Osteosclerosis-Ichthyosis-Premature Ovarian Failure Syndrome
Increased bone mineral density ORPHA:75325
Buschke-Ollendorff Syndrome
Osteopoikilosis, Flexion contracture, Joint stiffness OMIM:166700
Osteosclerotic Metaphyseal Dysplasia
Increased bone mineral density, Failure to thrive, Clavicular sclerosis OMIM:615198
Ossification Of The Posterior Longitudinal Ligament Of Spine
Ectopic ossification, Increased bone mineral density OMIM:602475
Osteochondrosis Of The Metatarsal Bone
Flattened metatarsal heads, Abnormality of the fifth metatarsal bone, Sclerosis of foot bone, Abn... ORPHA:564003
Dentin Dysplasia
Increased bone mineral density ORPHA:1653
Osteopoikilosis And Dacryocystitis
Osteopoikilosis OMIM:166705
Hyperostosis Corticalis Generalisata
Generalized osteosclerosis, Abnormal cortical bone morphology, Cranial hyperostosis ORPHA:3416
Spondyloepimetaphyseal Dysplasia, Di Rocco Type
Waddling gait, Metaphyseal dysplasia, Bowing of the legs, Delayed skeletal maturation, Reduced bo... OMIM:617974
Van Buchem Disease
Increased bone mineral density, Cranial hyperostosis, Thickened cortex of long bones OMIM:239100
Ghosal Hematodiaphyseal Dysplasia
Craniofacial hyperostosis, Bowing of the long bones, Abnormal tibia morphology, Abnormal femur mo... ORPHA:1802
Melorheostosis, Isolated
Hyperostosis, Increased bone mineral density OMIM:155950
Brachyolmia Type 1, Hobaek Type
Osteopenia, Back pain, Sclerotic foci of metaphyses of the elbow, Flattened proximal radial epiph... OMIM:271530
Parastremmatic Dwarfism
Bowing of the long bones, Short neck, Kyphosis, Flexion contracture, Genu valgum, Scoliosis OMIM:168400
Metaphyseal Dysplasia, Spahr Type
Waddling gait, Progressive leg bowing, Metaphyseal dysplasia, Bowing of the legs, Metaphyseal scl... OMIM:250400
Ribbing Disease
Diaphyseal sclerosis OMIM:601477
Melorheostosis
Increased bone mineral density, Joint stiffness, Hyperostosis, Arthritis, Ectopic ossification in... ORPHA:2485
Hip Dysplasia, Beukes Type
Abnormality of the epiphysis of the femoral head, Abnormal ossification involving the femoral hea... ORPHA:2114
Endosteal Hyperostosis, Worth Type
Craniofacial hyperostosis, Sclerotic vertebral body, Generalized osteosclerosis, Abnormal form of... ORPHA:2790
Dacryocystitis-Osteopoikilosis Syndrome
Increased bone mineral density, Osteopoikilosis ORPHA:1562
Eiken Syndrome
Epiphyseal dysplasia, Absence of the sacrum, Abnormal acetabulum morphology, Abnormal trabecular ... ORPHA:79106
Ehlers-Danlos Syndrome, Arthrochalasia Type, 1
Hallux valgus, Osteopenia, Joint laxity, Contracture of the proximal interphalangeal joint of the... OMIM:130060
Dentin Dysplasia With Sclerotic Bones
Cortical sclerosis OMIM:125440
Dysplasia Of Head Of Femur, Meyer Type
Multicentric femoral head ossification, Congenital hip dislocation, Leukocytosis, Delayed femoral... ORPHA:168621
Body Mass Index Quantitative Trait Locus 20
Increased bone mineral density, Obesity OMIM:618406
Bruck Syndrome 1
Joint laxity, Hip contracture, Protrusio acetabuli, Ankle flexion contracture, Kyphosis, Osteopor... OMIM:259450
Hereditary Sensory And Autonomic Neuropathy Type 2
Abnormality of the knee, Tapered finger, Hyperlordosis, Osteolysis, Foot acroosteolysis, Reduced ... ORPHA:970
Epiphyseal Stippling-Osteoclastic Hyperplasia Syndrome
Bowing of the long bones, Coarse metaphyseal trabecularization, Epiphyseal stippling, Coronal cle... ORPHA:1952
Sclerosteosis
Craniofacial hyperostosis, Increased bone mineral density, Abnormal cortical bone morphology ORPHA:3152
Osteosclerosis With Ichthyosis And Fractures
Cortical thickening of long bone diaphyses, Increased bone mineral density, Recurrent fractures OMIM:166740
Pacman Dysplasia
Epiphyseal stippling, Bowing of the long bones OMIM:167220
Trichodentoosseous Syndrome
Increased bone mineral density OMIM:190320
Pyle Disease
Metaphyseal dysplasia, Metaphyseal widening, Reduced bone mineral density, Genu valgum, Platyspon... OMIM:265900
Weismann-Netter Syndrome
Bowing of the long bones, Abnormal morphology of ulna, Abnormality of the humerus, Kyphosis, Abno... ORPHA:3344
Metaphyseal Chondrodysplasia, Schmid Type
Broad proximal phalanges of the hand, Bowing of the legs, Short tubular bones of the hand, Proxim... ORPHA:174
Acromesomelic Dysplasia, Maroteaux Type
Bowing of the long bones, Ovoid vertebral bodies, Joint stiffness, Hyperlordosis, Kyphosis, Abnor... ORPHA:40
Osteogenesis Imperfecta, Type Xxii
Bowing of the long bones, Recurrent fractures, Multiple prenatal fractures, Multiple small verteb... OMIM:619795
Metatropic Dysplasia
Abnormal intervertebral disk morphology, Camptodactyly of finger, Micromelia, Abnormal enchondral... ORPHA:2635
Osteosclerosis-Developmental Delay-Craniosynostosis Syndrome
Increased bone mineral density, Craniosynostosis ORPHA:178377
Hypophosphatemic Rickets, Autosomal Recessive, 1
Hypophosphatemic rickets, Increased bone mineral density, Rickets, Craniosynostosis OMIM:241520
Pseudoachondroplasia
Limited hip extension, Distal joint laxity, Metaphyseal widening, Delayed epiphyseal ossification... ORPHA:750
Solitary Bone Cyst
Back pain, Abnormal tibia morphology, Bone pain, Pathologic fracture, Abnormal form of the verteb... ORPHA:83468
Osteopathia Striata-Pigmentary Dermopathy-White Forelock Syndrome
Osteopathia striata, Abnormal pelvic girdle bone morphology, Abnormal diaphysis morphology, Abnor... ORPHA:2779
Osteogenesis Imperfecta, Type Xix
Osteopenia, Rhizomelia, Recurrent fractures, Bowing of the legs, Multiple prenatal fractures, Ver... OMIM:301014
Winchester Syndrome
Arthropathy, Kyphosis, Osteolysis involving tarsal bones, Carpal osteolysis, Broad metacarpals, G... OMIM:277950
Monosomy 5P
Finger syndactyly, Recurrent fractures, Short neck, Small hand, Joint hyperflexibility, Abnormali... ORPHA:281
Osteopenia And Sparse Hair
Osteopenia, Joint laxity OMIM:259690
Mazabraud Syndrome
Fibrous dysplasia of the bones, Bone pain, Recurrent fractures ORPHA:57782
Metaphyseal Dysplasia, Braun-Tinschert Type
Osteopenia, Broad tibial metaphyses, Humerus varus, Tibial bowing, Exostoses of the ulna, Scleros... ORPHA:85188
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type
Increased bone mineral density, Abnormal cortical bone morphology ORPHA:2204
Osteogenesis Imperfecta, Type V
Osteopenia, Hyperextensibility of the finger joints, Wormian bones, Recurrent fractures, Vertebra... OMIM:610967
Osteogenesis Imperfecta, Type Xiv
Osteopenia, Recurrent fractures, Increased susceptibility to fractures, Femoral bowing, Scoliosis OMIM:615066
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor
Bowing of the long bones, Bulging epiphyses, Thin bony cortex, Rickets of the lower limbs, Delaye... OMIM:600785
Osteopetrosis, Autosomal Dominant 1
Thickened cortex of long bones, Generalized osteosclerosis, Calvarial osteosclerosis, Osteopetrosis OMIM:607634
Epiphyseal Dysplasia, Multiple, 1
Waddling gait, Epiphyseal dysplasia, Short metacarpal, Ovoid vertebral bodies, Joint stiffness, A... OMIM:132400
Flynn-Aird Syndrome
Increased bone mineral density, Osteoporosis, Increased bone density with cystic changes, Joint s... OMIM:136300
Hypochondroplasia
Bowing of the long bones, Brachydactyly, Micromelia, Hyperlordosis, Short toe, Osteoarthritis, Ab... ORPHA:429
Pseudoachondroplasia
Limited hip extension, Genu recurvatum, Metaphyseal widening, Delayed epiphyseal ossification, Os... OMIM:177170
Bruck Syndrome
Bowing of the long bones, Recurrent fractures, Joint stiffness, Kyphosis, Osteoporosis, Platyspon... ORPHA:2771
Osteoporosis, Childhood- Or Juvenile-Onset, With Developmental Delay
Osteopenia, Inability to walk, Broad-based gait, Recurrent fractures OMIM:619884
Metatropic Dysplasia
Abnormal metaphyseal vascular invasion, Enlarged joints, Flexion contracture, Long coccyx, Halber... OMIM:156530
Hypocalcemic Vitamin D-Resistant Rickets
Joint dislocation, Osteomalacia, Recurrent fractures, Bone cyst, Genu varum, Osteolysis, Abnormal... ORPHA:93160
Spondylometaphyseal Dysplasia, Kozlowski Type
Short tubular bones of the hand, Increased intervertebral space, Metaphyseal widening, Delayed ep... ORPHA:93314
Progressive Pseudorheumatoid Dysplasia
Arthropathy, Enlarged epiphyses, Metaphyseal widening, Osteoarthritis, Coxa vara, Sclerotic verte... OMIM:208230
Osteogenesis Imperfecta, Type Ix
Recurrent fractures, Multiple prenatal fractures, Kyphosis, Decreased calvarial ossification, Pla... OMIM:259440
Gnathodiaphyseal Dysplasia
Osteopenia, Bowing of the long bones, Osteomyelitis, Diaphyseal cortical sclerosis, Increased sus... OMIM:166260
Isolated Osteopoikilosis
Abnormally ossified vertebrae, Increased bone mineral density, Sclerosis of foot bone, Sclerotic ... ORPHA:166119
Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Bulging epiphyses, Enlargement of the ankles, Thin bony cortex, Recurrent fractures, Bowing of th... OMIM:600081
Mueller-Weiss Syndrome
Limitation of movement at ankles, Sclerosis of foot bone, Joint stiffness, Knee osteoarthritis, A... ORPHA:566943
Multiple Epiphyseal Dysplasia Type 1
Waddling gait, Abnormal acetabulum morphology, Joint stiffness, Avascular necrosis of the capital... ORPHA:93308
Osteopetrosis, Autosomal Recessive 6
Osteopetrosis OMIM:611497
Spastic Paraplegia 18B, Autosomal Recessive
Kyphosis, Inability to walk, Ankle clonus, Gait disturbance, Scoliosis, Joint contracture OMIM:611225
Scheuermann Disease
Kyphosis, Osteochondrosis, Morbus Scheuermann OMIM:181440
Intermediate Osteopetrosis
Back pain, Sandwich appearance of vertebral bodies, Osteomyelitis, Recurrent fractures, Cortical ... ORPHA:210110
Spondyloepiphyseal Dysplasia, Kondo-Fu Type
Waddling gait, Kyphosis, Reduced bone mineral density, Delayed ossification of carpal bones, Shor... OMIM:618392
Bruck Syndrome 2
Osteopenia, Flexion contracture, Elbow flexion contracture, Femoral bowing, Increased susceptibil... OMIM:609220
Osteogenesis Imperfecta, Type Xi
Osteopenia, Joint laxity, Protrusio acetabuli, Recurrent fractures, Kyphoscoliosis, Coxa vara, In... OMIM:610968
Spondylometaphyseal Dysplasia, Pagnamenta Type
Thin bony cortex, Rhizomelia, Delayed skeletal maturation, Femoral bowing, Platyspondyly, Thoraci... OMIM:619638
Endosteal Hyperostosis, Autosomal Dominant
Hyperostosis, Metacarpal diaphyseal endosteal sclerosis, Clavicular sclerosis, Thickened cortex o... OMIM:144750
Familial Expansile Osteolysis
Bowing of the long bones, Bone pain, Osteolysis, Pathologic fracture, Thin bony cortex OMIM:174810
Spondylo-Megaepiphyseal-Metaphyseal Dysplasia
Back pain, Enlarged epiphyses, Proximal placement of thumb, Short neck, Flexion contracture, Coxa... OMIM:613330
Osteopetrosis, Autosomal Dominant 2
Recurrent fractures, Mandibular osteomyelitis, Fractures of the long bones, Generalized osteoscle... OMIM:166600
Osteogenesis Imperfecta, Type Xxi
Recurrent fractures, Coxa valga, Bowing of the legs, Osteoporosis, Coxa vara, Platyspondyly, Scol... OMIM:619131
Osteogenesis Imperfecta, Type Iii
Recurrent fractures, Protrusio acetabuli, Severe generalized osteoporosis, Multiple prenatal frac... OMIM:259420
Hypogonadotropic Hypogonadism 19 With Or Without Anosmia
Osteopenia, Osteoporosis OMIM:615269
Osteoporosis-Pseudoglioma Syndrome
Osteopenia, Joint laxity, Crumpled long bones, Waddling gait, Metaphyseal widening, Osteoporosis,... ORPHA:2788
Tibial Torsion, Bilateral Medial
Bowing of the legs, Scoliosis, Tibial torsion OMIM:188800
Lethal Congenital Contracture Syndrome Type 1
Recurrent fractures, Short neck, Abnormality of the elbow, Limitation of joint mobility, Abnormal... ORPHA:1486
Ck Syndrome
Hyperlordosis, Kyphosis, Scoliosis, Abnormal cortical bone morphology, Abnormal digit morphology,... OMIM:300831
Spastic Paraplegia-Paget Disease Of Bone Syndrome
Increased spinal bone density, Recurrent fractures, Bone pain, Gait disturbance, Spastic gait ORPHA:329475
Wormian Bone-Multiple Fractures-Dentinogenesis Imperfecta-Skeletal Dysplasia
Limitation of joint mobility, Upper limb undergrowth, Short foot, Toe clinodactyly, Wormian bones... ORPHA:166277
Metaphyseal Anadysplasia
Bowing of the long bones, Abnormal morphology of ulna, Joint stiffness, Aplasia/Hypoplasia of the... ORPHA:1040
Diastrophic Dysplasia
Joint dislocation, Bowing of the long bones, Increased bone mineral density, Camptodactyly of fin... ORPHA:628
Progressive Pseudorheumatoid Arthropathy Of Childhood
Enlarged epiphyses, Irregularity of vertebral bodies, Wrist swelling, Coxa vara, Abnormal shoulde... ORPHA:1159
Mycetoma
Back pain, Abnormality of the knee, Osteomyelitis, Bone cyst, Osteoporosis, Abnormal forearm bone... ORPHA:2583
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type
Short neck, Coxa vara, Tibial bowing, Reduced bone mineral density, Abnormal bone ossification, H... ORPHA:93315
Idiopathic Juvenile Osteoporosis
Recurrent fractures, Kyphosis, Osteoporosis, Bone pain, Gait disturbance, Vertebral compression f... ORPHA:85193
Epiphyseal Dysplasia, Multiple, 7
Epiphyseal dysplasia, Monkey wrench femoral neck, Advanced ossification of carpal bones, Flat ace... OMIM:617719
Osteogenesis Imperfecta, Type Iv
Recurrent fractures, Biconcave flattened vertebrae, Kyphosis, Reduced bone mineral density, Incre... OMIM:166220
Hypophosphatemic Rickets With Hypercalciuria, Hereditary
Bulging epiphyses, Enlargement of the ankles, Thin bony cortex, Recurrent fractures, Bowing of th... OMIM:241530
Osteopetrosis, Autosomal Recessive 9
Pathologic fracture, Increased bone mineral density, Osteopetrosis, Cortical sclerosis OMIM:620366
Axial Osteomalacia
Increased bone mineral density, Osteomalacia OMIM:109130
Blount Disease, Adolescent
Genu varum, Osteochondritis dissecans, Bowing of the legs OMIM:259200
Osteogenesis Imperfecta, Type Vi
Joint laxity, Protrusio acetabuli, Vertebral compression fracture, Coxa vara, Increased susceptib... OMIM:613982
Dysplasia Epiphysealis Hemimelica
Abnormal femoral neck morphology, Tarsal synostosis, Recurrent fractures, Joint stiffness, Accele... ORPHA:1822
Osteogenesis Imperfecta, Type Xviii
Joint laxity, Bowing of the long bones, Thin bony cortex, Recurrent fractures, Joint hypermobilit... OMIM:617952
Metaphyseal Acroscyphodysplasia
Joint dislocation, Brachydactyly, Cone-shaped metacarpal epiphyses, Bowing of the long bones, Mic... ORPHA:1240
Diastrophic Dysplasia
Hip contracture, Lumbar hyperlordosis, Cervical kyphosis, Kyphoscoliosis, Costal cartilage calcif... OMIM:222600
Craniodiaphyseal Dysplasia, Autosomal Dominant
Craniofacial hyperostosis, Craniofacial osteosclerosis, Diaphyseal sclerosis, Cortical sclerosis OMIM:122860
Urban-Rogers-Meyer Syndrome
Toe syndactyly, Camptodactyly of finger, Recurrent fractures, Short neck, Kyphosis, Osteoporosis,... ORPHA:3409
Brachyolmia Type 1, Toledo Type
Back pain, Broad tibial metaphyses, Kyphoscoliosis, Short neck, Precocious costochondral ossifica... OMIM:271630
Otopalatodigital Syndrome Type 1
Bowing of the long bones, Increased bone mineral density, Sandal gap, Short hallux, Proximal plac... ORPHA:90650
Paget Disease Of Bone 2, Early-Onset
Sandwich appearance of vertebral bodies, Bowing of the long bones, Short femur, Fractures of the ... OMIM:602080
Hypophosphatasia, Adult
Arthropathy, Recurrent fractures, Osteomalacia, Rickets, Increased susceptibility to fractures, P... OMIM:146300
Hypophosphatemic Rickets, X-Linked Recessive
Bulging epiphyses, Enlargement of the ankles, Thin bony cortex, Osteomalacia, Recurrent fractures... OMIM:300554
Cranio-Osteoarthropathy
Abnormality of the knee, Joint stiffness, Abnormal tibia morphology, Osteoarthritis, Clubbing of ... ORPHA:1525
Intellectual Developmental Disorder With Short Stature And Variable Skeletal Anomalies
Overlapping toe, Short thumb, Kyphosis, Camptodactyly, Clinodactyly of the 5th finger, Arrhythmia OMIM:618453
Calvarial Doughnut Lesions With Bone Fragility
Osteopenia, Recurrent fractures, Osteoporosis, Femoral bowing, Platyspondyly, Scoliosis OMIM:126550
Gorham-Stout Disease
Osteopenia, Abnormal pelvis bone morphology, Osteomyelitis, Osteolysis involving bones of the upp... ORPHA:73
Osteogenesis Imperfecta, Type Xii
Hyperextensibility of the finger joints, Recurrent fractures, Bowing of the legs, Osteoporosis, S... OMIM:613849
Geroderma Osteodysplasticum
Osteopenia, Hyperextensibility of the finger joints, Beaking of vertebral bodies, Recurrent fract... OMIM:231070
Spondylometaphyseal Dysplasia, Kozlowski Type
Enlarged joints, Irregular, rachitic-like metaphyses, Short neck, Coxa vara, Halberd-shaped pelvi... OMIM:184252
Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive, Leroy-Spranger Type
Decreased hip abduction, Lumbar hyperlordosis, Flat capital femoral epiphysis, Genu valgum, Irreg... OMIM:609223
Spondyloepiphyseal Dysplasia, Stanescu Type
Waddling gait, Stiff neck, Kyphoscoliosis, Joint stiffness, Hypoplastic ilia, Coxa valga, Vertebr... OMIM:616583
Mesomelic Dwarfism-Cleft Palate-Camptodactyly Syndrome
Bowing of the long bones, Camptodactyly of finger, Elbow dislocation, Abnormal metacarpal morphol... ORPHA:2631
Caffey Disease
Periosteal thickening of long tubular bones, Cortical thickening of long bone diaphyses, Scoliosi... ORPHA:1310
Spondylometaphyseal Dysplasia, X-Linked
Hip contracture, Hyperextensibility of the finger joints, Enlarged joints, Thoracolumbar scoliosi... OMIM:313420
Osteogenesis Imperfecta, Type Ii
Crumpled long bones, Broad long bones, Wormian bones, Recurrent fractures, Multiple prenatal frac... OMIM:166210
Grant Syndrome
Joint dislocation, Bowing of the long bones, Decreased skull ossification, Joint hyperflexibility... ORPHA:2097
Schnitzler Syndrome
Hepatomegaly, Increased bone mineral density, Splenomegaly, Leukocytosis, Lymphadenopathy, Arthri... ORPHA:37748
Smith-Mccort Dysplasia 1
Waddling gait, Short metacarpal, Multicentric femoral head ossification, Iliac crest serration, H... OMIM:607326
Paget Disease Of Bone 3
Fractures of the long bones, Osteolysis, Patchy osteosclerosis OMIM:167250
Osteogenesis Imperfecta, Type Viii
Osteopenia, Joint laxity, Short metacarpal, Radial bowing, Recurrent fractures, Femoral retrovers... OMIM:610915
Albers-Schönberg Osteopetrosis
Joint dislocation, Osteomyelitis, Recurrent fractures, Mandibular osteomyelitis, Generalized oste... ORPHA:53
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia
Waddling gait, Hyperlordosis, Congestive heart failure, Osteolysis, Increased susceptibility to f... ORPHA:52430
Fetal Cytomegalovirus Syndrome
Splenomegaly, Hepatomegaly, Anemia ORPHA:294
Osteoporosis
Osteoporosis OMIM:166710
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Leptodactylic Type
Abnormal metatarsal morphology, Delayed epiphyseal ossification, Generalized joint laxity, Multip... ORPHA:93360
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Bulging epiphyses, Enlargement of the ankles, Thin bony cortex, Recurrent fractures, Bowing of th... OMIM:264700
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2
Osteopenia, Epiphyseal dysplasia, Bowing of the long bones, Joint laxity, Kyphoscoliosis, Hypopla... OMIM:615349
Osteogenesis Imperfecta, Type Xvii
Joint laxity, Bowed humerus, Recurrent fractures, Kyphoscoliosis, Intraventricular hemorrhage, Hi... OMIM:616507
Vitamin D-Dependent Rickets, Type 2A
Bulging epiphyses, Enlargement of the ankles, Thin bony cortex, Recurrent fractures, Bowing of th... OMIM:277440
Metaphyseal Dysplasia Without Hypotrichosis
Joint laxity, Metaphyseal dysplasia, Short metacarpal, Cone-shaped epiphyses of the phalanges of ... OMIM:250460
Mucopolysaccharidosis Type 4
Joint dislocation, Bowing of the long bones, Coxa valga, Short neck, Hyperlordosis, Kyphosis, Del... ORPHA:582
Dysspondyloenchondromatosis
Joint dislocation, Enlarged joints, Kyphoscoliosis, Osteoarthritis, Generalized joint laxity, Del... ORPHA:85198
Geroderma Osteodysplastica
Beaking of vertebral bodies, Recurrent fractures, Hip dislocation, Osteoporosis, Abnormal form of... ORPHA:2078
Multiple Epiphyseal Dysplasia, Beighton Type
Thoracic scoliosis, Osteoarthritis, Coxa vara, Double-layered patella, Abnormal hip joint morphol... ORPHA:166011
Caffey Disease
Cortical irregularity, Periosteal thickening of long tubular bones, Subperiosteal bone formation,... OMIM:114000
Hypocalcemic Vitamin D-Dependent Rickets
Enlargement of the ankles, Wide cranial sutures, Osteomalacia, Irregular, rachitic-like metaphyse... ORPHA:289157
Dysosteosclerosis
Osteopenia, Sclerosis of hand bone, Clavicular sclerosis, Sclerotic scapulae, Delayed closure of ... OMIM:224300
Pulmonary Hypoplasia, Primary
Neonatal death OMIM:265430
Oncogenic Osteomalacia
Abnormal pelvis bone morphology, Abnormality of the tarsal bones, Fibrous dysplasia of the bones,... ORPHA:352540
Ghosal Hematodiaphyseal Dysplasia
Myelofibrosis, Increased bone mineral density, Hyperostosis cranialis interna OMIM:231095
Osteogenesis Imperfecta, Type Xiii
Angulated humerus, Increased bone mineral density, Arachnodactyly, Recurrent fractures, Joint hyp... OMIM:614856
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 2
Congenital hip dislocation, Irregular vertebral endplates, Posterior scalloping of vertebral bodi... OMIM:603546
Immunodeficiency 18
Decreased proportion of CD3-positive T cells, Lymphopenia OMIM:615615
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type
Dysplastic iliac wing, Waddling gait, Lumbar hyperlordosis, Metaphyseal spurs, Micromelia, Bowing... OMIM:608728
Spondylocostal Dysostosis 3, Autosomal Recessive
Contracture of the proximal interphalangeal joint of the 2nd finger, Kyphosis, Hypoplasia of the ... OMIM:609813
Hypophosphatemic Rickets, X-Linked Dominant
Shortening of the talar neck, Osteomalacia, Bowing of the legs, Osteoarthritis, Rickets, Spinal c... OMIM:307800
Weismann-Netter Syndrome
Anterior tibial bowing, Kyphosis, Squared iliac bones, Lateral femoral bowing, Fibular bowing, Ho... OMIM:112350
Spondyloepimetaphyseal Dysplasia, Irapa Type
Short metacarpal, Micromelia, Osteoarthritis, Limitation of joint mobility, Abnormal carpal morph... ORPHA:93351
Schwartz-Jampel Syndrome, Type 1
Congenital hip dislocation, Cervical kyphosis, Micromelia, Bowing of the legs, Short neck, Metaph... OMIM:255800
Multiple Epiphyseal Dysplasia Type 5
Back pain, Abnormal upper limb epiphysis morphology, Delayed proximal femoral epiphyseal ossifica... ORPHA:93311
Melnick-Needles Syndrome
Craniofacial hyperostosis, Bowing of the long bones, Coxa valga, Anisospondyly, Hip dislocation, ... ORPHA:2484
Desbuquois Dysplasia 1
Joint dislocation, Triangular shaped phalanges of the hand, Short neck, Metaphyseal widening, Ost... OMIM:251450
Ethanolaminosis
Cardiomegaly OMIM:227150
Spondyloepimetaphyseal Dysplasia, Matrilin-3 Type
Waddling gait, Lumbar hyperlordosis, Enlarged joints, Bowing of the legs, Limb undergrowth, Limit... ORPHA:156728
Osteogenesis Imperfecta, Type Xvi
Angulated humerus, Osteopenia, Bowing of the long bones, Rhizomelia, Recurrent fractures, Short l... OMIM:616229
Osteopetrosis, Autosomal Recessive 4
Osteopetrosis, Increased bone mineral density, Recurrent fractures OMIM:611490
Lethal Recessive Chondrodysplasia
Generalized osteosclerosis ORPHA:1423
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 2
Osteopenia, Pathologic fracture, Bone cyst, Gait disturbance OMIM:618193
Spondyloepimetaphyseal Dysplasia, Shohat Type
Bowing of the legs, Short neck, Metaphyseal widening, Delayed epiphyseal ossification, Abnormal v... ORPHA:93352
Marshall-Smith Syndrome
Bowing of the long bones, Craniosynostosis, Accelerated skeletal maturation, Increased susceptibi... ORPHA:561
Osteopetrosis, Autosomal Recessive 1
Hepatomegaly, Increased bone mineral density, Osteomyelitis, Pancytopenia, Femur fracture, Cranio... OMIM:259700
Spondyloepiphyseal Dysplasia Tarda
Back pain, Abnormality of the tibial plateaux, Osteoarthritis of the distal interphalangeal joint... ORPHA:93284
Infantile Sialic Acid Storage Disease
Osteopenia, Hepatomegaly, Cardiomegaly, Conjugated hyperbilirubinemia, Splenomegaly, Vacuolated l... OMIM:269920
Osteosarcoma
Abnormal femoral metaphysis morphology, Osteolysis, Joint swelling, Abnormal tibial metaphysis mo... ORPHA:668
Cardiomyopathy, Dilated, 1I
Dilated cardiomyopathy, Elevated circulating creatine kinase concentration, Cardiomegaly OMIM:604765
Neutrophilia, Hereditary
Splenomegaly, Neutrophilia OMIM:162830
Chondroectodermal Dysplasia With Night Blindness
Osteopenia, Metaphyseal dysplasia, Epiphyseal dysplasia, Abnormality of the knee, Fractures of th... ORPHA:319195
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Osteopenia, Arthropathy, Abnormal hand morphology, Sclerotic cranial sutures, Osteolysis involvin... ORPHA:371428
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2A, Childhood Onset, Autosomal Dominant
Waddling gait, Hip contracture, Broad-based gait, Hyperlordosis, Kyphosis, Achilles tendon contra... OMIM:615290
Epiphyseal Dysplasia, Multiple, 5
Epiphyseal dysplasia, Short metacarpal, Premature osteoarthritis, Coxa vara, Genu valgum, Irregul... OMIM:607078
Combined Osteogenesis Imperfecta And Ehlers-Danlos Syndrome 1
Recurrent joint dislocation, Recurrent fractures, Arterial rupture, Reduced bone mineral density,... OMIM:619115
Metachondromatosis
Abnormal joint morphology, Bowing of the long bones OMIM:156250
Metaphyseal Chondrodysplasia, Schmid Type
Metaphyseal chondrodysplasia, Metaphyseal widening, Coxa vara, Femoral bowing, Metaphyseal cuppin... OMIM:156500
Dysosteosclerosis
Craniofacial hyperostosis, Increased bone mineral density, Recurrent fractures, Hypoplastic verte... ORPHA:1782
Juvenile Paget Disease
Bowing of the long bones, Recurrent fractures, Cranial hyperostosis, Osteoporosis, Hypertension, ... ORPHA:2801
Hypophosphatasia, Infantile
Micromelia, Bowing of the legs, Craniosynostosis, Vertebral clefting, Increased susceptibility to... OMIM:241500
Spondyloepiphyseal Dysplasia Congenita
Back pain, Limited elbow movement, Short neck, Reduced bone mineral density, Waddling gait, Abnor... ORPHA:94068
Multicentric Osteolysis, Nodulosis, And Arthropathy
Osteopenia, Metaphyseal widening, Metatarsal osteolysis, Camptodactyly of toe, Wrist flexion cont... OMIM:259600
Dent Disease 1
Bulging epiphyses, Enlargement of the ankles, Thin bony cortex, Osteomalacia, Recurrent fractures... OMIM:300009
Bethlem Myopathy 2
Distal joint laxity, Kyphosis, Flexion contracture, Hip dislocation, Scoliosis OMIM:616471
Hernia, Anterior Diaphragmatic
Neonatal death OMIM:306950
Kyphomelic Dysplasia
Bowing of the long bones, Micromelia, Joint stiffness, Limitation of joint mobility, Flat acetabu... ORPHA:1801
Osteoporosis, Juvenile
Osteoporosis OMIM:259750
Thoracomelic Dysplasia
Short neck, Elbow dislocation, Hyperlordosis, Abnormal fibula morphology, Genu valgum, Joint hype... ORPHA:1803
Craniometadiaphyseal Dysplasia, Wormian Bone Type
Osteopenia, Increased bone mineral density, Thin bony cortex, Coxa valga, Short tubular bones of ... ORPHA:85184
Familial Osteodysplasia, Anderson Type
Recurrent fractures, Aplastic clavicle, Elbow dislocation, Kyphosis, Bifid femur, Increased susce... ORPHA:2769
Osteopetrosis, Autosomal Recessive 8
Failure to thrive, Osteopetrosis OMIM:615085
Hall-Riggs Syndrome
Metaphyseal dysplasia, Kyphosis, Delayed skeletal maturation, Osteoporosis, Irregular vertebral e... OMIM:234250
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Bowing of the long bones, Rhizomelia, Proximal placement of thumb, Short neck, Platyspondyly, Abn... ORPHA:93267
Alpha-Mannosidosis
Craniofacial hyperostosis, Bowing of the long bones, Short neck, Kyphosis, Delayed skeletal matur... ORPHA:61
Epiphyseal Chondrodysplasia, Miura Type
Osteopenia, Epiphyseal dysplasia, Broad hallux, Arachnodactyly, Fifth finger distal phalanx clino... OMIM:615923
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Hepatomegaly, Splenomegaly, Persistence of hemoglobin F, Abnormal bone structure, Anemia ORPHA:46532
Osteogenesis Imperfecta, Type I
Osteopenia, Recurrent fractures, Biconcave flattened vertebrae, Femoral bowing, Increased suscept... OMIM:166200
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 8
Hip contracture, Hyperlordosis, Kyphosis, Elbow flexion contracture, Knee flexion contracture, Ta... OMIM:600175
Stuve-Wiedemann Syndrome 2
Bowing of the long bones, Congestive heart failure, Short long bone, Scoliosis, Camptodactyly, Pu... OMIM:619751
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections
Osteopenia, Recurrent fractures, Craniosynostosis, Scoliosis, Joint hypermobility OMIM:147060
Contractural Arachnodactyly, Congenital
Osteopenia, Short neck, Knee flexion contracture, Wrist flexion contracture, Arachnodactyly, Ulna... OMIM:121050
Osteogenesis Imperfecta-Retinopathy-Seizures-Intellectual Disability Syndrome
Wormian bones, Recurrent fractures ORPHA:2773
Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures
Waddling gait, Broad-based gait, Lumbar hyperlordosis, Ataxia, Kyphosis, Inability to walk, Hip d... OMIM:616756
Fibrous Dysplasia Of Bone
Abnormal tibia morphology, Bone pain, Abnormal femur morphology, Coxa vara, Patchy reduction of b... ORPHA:249
Osteopenia-Intellectual Disability-Sparse Hair Syndrome
Osteopenia, Recurrent fractures, Delayed skeletal maturation, 2-3 toe syndactyly, Joint hyperflex... ORPHA:2324
Multiple Epiphyseal Dysplasia, Lowry Type
Epiphyseal dysplasia, Brachydactyly, Rhizomelia, Delayed epiphyseal ossification, Fragmented epip... ORPHA:166016
Intellectual Developmental Disorder, X-Linked 82
Kyphosis, Scoliosis OMIM:300518
Achondrogenesis Type 1A
Recurrent fractures, Micromelia, Abnormal enchondral ossification, Short neck, Short foot, Short ... ORPHA:93299
Spondyloepimetaphyseal Dysplasia, Missouri Type
Waddling gait, Radial bowing, Rhizomelia, Irregular sclerotic endplates, Ulnar bowing, Osteoarthr... OMIM:602111
Infantile Systemic Hyalinosis
Osteopenia, Telangiectasia of the skin, Camptodactyly of finger, Micromelia, Osteomalacia, Recurr... ORPHA:2176
Rhizomelic Syndrome, Urbach Type
Abnormality of the knee, Brachydactyly, Rhizomelia, Short neck, Abnormality of the humerus, Preax... ORPHA:3098
Majeed Syndrome
Hepatomegaly, Increased bone mineral density, Osteomyelitis, Congenital hypoplastic anemia, Splen... ORPHA:77297
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness
Broad toe, Lumbar hyperlordosis, Enlarged metacarpal epiphyses, Enlarged epiphyses of the phalang... OMIM:609616
Proteus Syndrome
Kyphoscoliosis, Mandibular hyperostosis, Spinal canal stenosis, Calvarial hyperostosis, Facial hy... OMIM:176920
Dyggve-Melchior-Clausen Disease
Short neck, Metaphyseal widening, Flat glenoid fossa, Short metatarsal, Tibial bowing, Femoral bo... OMIM:223800
Angioosteohypotrophic Syndrome
Hypoplasia of the ulna, Short humerus, Abnormal trabecular bone morphology, Telangiectasia of the... ORPHA:75508
Rheumatoid Factor-Positive Polyarticular Juvenile Idiopathic Arthritis
Osteopenia, Symmetric polyarthritis, Abnormal limb bone morphology, Limitation of joint mobility,... ORPHA:85435
Fibular Hemimelia
Bowing of the legs, Tibial bowing, Increased laxity of ankles, Foot oligodactyly, Abnormal bone o... ORPHA:93323
Odontochondrodysplasia
Bowing of the long bones, Micromelia, Coxa valga, Cone-shaped epiphysis, Joint hyperflexibility, ... ORPHA:166272
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Osteopenia, Hepatomegaly, Hypersplenism, Thrombocytopenia, Splenomegaly, Hypocholesterolemia, Erl... OMIM:610539
Mucopolysaccharidosis, Type Iva
Short neck, Epiphyseal deformities of tubular bones, Metaphyseal widening, Anterior beaking of lu... OMIM:253000
Chondrodysplasia, Blomstrand Type
Generalized osteosclerosis, Advanced ossification of carpal bones, Advanced tarsal ossification OMIM:215045
Arthrogryposis, Distal, Type 4
Osteopenia, 2-5 finger cutaneous syndactyly, Kyphosis, Camptodactyly of 2nd-5th fingers, Distal a... OMIM:609128
Autosomal Recessive Primary Microcephaly
Abnormal cortical bone morphology ORPHA:2512
Hypergonadotropic Hypogonadism-Cataract Syndrome
Delayed skeletal maturation, Osteoporosis, Recurrent fractures, Reduced bone mineral density ORPHA:2410
Cerebroretinal Microangiopathy With Calcifications And Cysts 1
Osteopenia, Bowing of the long bones, Ataxia, Retinal telangiectasia, Metaphyseal sclerosis, Oste... OMIM:612199
Multiple Epiphyseal Dysplasia Type 4
Cervical kyphosis, Accelerated skeletal maturation, Abnormal hand morphology, Metaphyseal widenin... ORPHA:93307
Pycnodysostosis
Persistent open anterior fontanelle, Generalized osteosclerosis, Hypoplastic iliac wing, Joint la... ORPHA:763
Pachydermoperiostosis
Gastrointestinal hemorrhage, Osteomyelitis, Limitation of joint mobility, Osteoporosis, Small han... ORPHA:2796
Gaucher Disease Type 1
Osteopenia, Hepatomegaly, Increased bone mineral density, Pancytopenia, Hypersplenism, Thrombocyt... ORPHA:77259
Ulnar Hemimelia
Glenoid fossa hypoplasia, Limited elbow movement, Osteoarthritis, Abnormal calcification of the c... ORPHA:93320
Leri Pleonosteosis
Genu recurvatum, Camptodactyly of finger, Joint stiffness, Elbow dislocation, Abnormal finger mor... ORPHA:2900
Immunodeficiency 24
Lymphopenia, Decreased proportion of memory B cells, Decreased CD4:CD8 ratio, Reduced proportion ... OMIM:615897
Osteoporosis-Pseudoglioma Syndrome
Osteopenia, Recurrent fractures, Kyphoscoliosis, Kyphosis, Metaphyseal widening, Osteoporosis, In... OMIM:259770
Hydrocephaly-Tall Stature-Joint Laxity Syndrome
Aortic regurgitation, Arachnodactyly, Kyphosis, Joint hyperflexibility, Shoulder dislocation, Gai... ORPHA:2181
Dysostosis, Stanescu Type
Bowing of the long bones, Increased bone mineral density, Persistent open anterior fontanelle, Wo... ORPHA:1798
Leukocyte Adhesion Deficiency, Type Iii
Hepatomegaly, Extramedullary hematopoiesis, Splenomegaly, Leukocytosis, Hepatosplenomegaly, Abnor... OMIM:612840
Mesomelic Limb Shortening And Bowing
Camptodactyly of finger, Bowing of the legs, Mesomelic arm shortening, Mesomelic leg shortening, ... OMIM:249710
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Ataxia, Camptodactyly of finger, Kyphosis, Osteoporosis, Dysmetria, Scoliosis, Abnormality of the... ORPHA:48431
Immunodeficiency 69
Pancytopenia, Splenomegaly, Increased circulating ferritin concentration, Leukocytosis, Hepatospl... OMIM:618963
Dermatosparaxis Ehlers-Danlos Syndrome
Osteopenia, Joint dislocation, Osteomalacia, Coxa valga, Avascular necrosis of the capital femora... ORPHA:1901
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis
Hip contracture, Kyphoscoliosis, Coxa valga, Hyperlordosis, Accelerated skeletal maturation, Adva... OMIM:618363
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness
Increased bone mineral density, Osteopetrosis, Decreased body weight OMIM:617306
Campomelic Dysplasia
Poorly ossified cervical vertebrae, Bowing of the long bones, Small abnormally formed scapulae, R... ORPHA:140
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive
Anemia, Leukocytosis, Elevated circulating C-reactive protein concentration OMIM:619398
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations
Joint dislocation, Arthropathy, Limited hip extension, Genu recurvatum, Short neck, Flexion contr... OMIM:143095
Glycoprotein Storage Disease
Splenomegaly, Gout OMIM:232900
Persistent Polyclonal B-Cell Lymphocytosis
Splenomegaly, Hepatomegaly, Lymphocytosis OMIM:606445
Brittle Cornea Syndrome
Hallux valgus, Arachnodactyly, Osteoporosis, Increased susceptibility to fractures, Joint hyperfl... ORPHA:90354
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures
Short neck, Metaphyseal widening, Delayed proximal femoral epiphyseal ossification, Flexion contr... OMIM:271640
Spondylodysplastic Ehlers-Danlos Syndrome
Osteopenia, Joint dislocation, Multiple joint contractures, Metaphyseal widening, Generalized joi... ORPHA:536471
Hereditary Hypophosphatemic Rickets With Hypercalciuria
Waddling gait, Osteomalacia, Bowing of the legs, Bone pain, Reduced bone mineral density, Hypopho... ORPHA:157215
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Osteopenia, Short femur, Fractured radius, Wormian bones, Decreased fibular diameter, Multiple pr... OMIM:616897
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome
Cubitus valgus, Joint hyperflexibility, Kyphosis, Gait disturbance ORPHA:1875
Congenital Disorder Of Glycosylation, Type Iik
Joint laxity, Metaphyseal dysplasia, Epiphyseal dysplasia, Kyphoscoliosis, Osteoporosis, Diaphyse... OMIM:614727
Mucopolysaccharidosis, Type Ivb
Epiphyseal deformities of tubular bones, Metaphyseal widening, Joint laxity, Ataxia, Hyperlordosi... OMIM:253010
Odontochondrodysplasia 1
Genu recurvatum, Micromelia, Metaphyseal widening, Short phalanx of finger, Genu varum, Short met... OMIM:184260
Osteogenesis Imperfecta Congenita, Microcephaly, And Cataracts
Multiple prenatal fractures, Decreased calvarial ossification, Wormian bones, Bowing of limbs due... OMIM:259410
Neonatal Severe Primary Hyperparathyroidism
Abnormal metaphysis morphology, Recurrent fractures ORPHA:417
Gm1-Gangliosidosis, Type Ii
Ataxia, Joint stiffness, Thoracolumbar kyphosis, Coxa valga, Hypoplastic vertebral bodies, Platys... OMIM:230600
Vitamin D-Dependent Rickets, Type 3
Osteopenia, Bowing of the legs, Flared metaphysis, Metaphyseal cupping, Genu varum OMIM:619073
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Metaphyseal chondrodysplasia, Lymphopenia, Hypoplasia of the thymus OMIM:200900
Spondyloepimetaphyseal Dysplasia, X-Linked
Anterior wedging of T12, Long fibula, Short palm, Short phalanx of finger, Broad metacarpals, Gen... OMIM:300106
Grange Syndrome
Aortic regurgitation, Syndactyly, Increased susceptibility to fractures, Hypertension, Short palm ORPHA:79094
Chst3-Related Skeletal Dysplasia
Waddling gait, Short metacarpal, Enlarged joints, Rhizomelia, Kyphoscoliosis, Flexion contracture... ORPHA:263463
Richieri Costa-Da Silva Syndrome
Joint dislocation, Kyphoscoliosis, Short neck, Metatarsus adductus, Inability to walk, Limitation... ORPHA:3101
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
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3
Osteopenia, Joint laxity, Short metacarpal, Waddling gait, Camptodactyly of finger, Kyphoscoliosi... OMIM:612350
Mucolipidosis Iii Gamma
Aortic regurgitation, Joint stiffness, Flat capital femoral epiphysis, Short neck, Hyperlordosis,... OMIM:252605
Myopathic Ehlers-Danlos Syndrome
Multiple joint contractures, Flexion contracture, Knee flexion contracture, Congenital contractur... ORPHA:536516
Cole-Carpenter Syndrome 2
Osteopenia, Wide cranial sutures, Recurrent fractures, Kyphosis, Platyspondyly, Lambdoidal cranio... OMIM:616294
Craniometaphyseal Dysplasia
Craniofacial hyperostosis, Osteopetrosis ORPHA:1522
X-Linked Hypophosphatemia
Bowing of the legs, Generalized osteosclerosis, Bone pain, Trapezoidal distal femoral condyles, R... ORPHA:89936
Intellectual Developmental Disorder, X-Linked, Syndromic, Stocco Dos Santos Type
Kyphosis, Small hand, Hip dislocation, Short foot, Talipes equinovarus, Scoliosis OMIM:300434
Diaphyseal Medullary Stenosis With Malignant Fibrous Histiocytoma
Osteopenia, Stenosis of the medullary cavity of the long bones, Diaphyseal cortical sclerosis, Bo... OMIM:112250
Osteogenesis Imperfecta, Type X
Osteopenia, Joint laxity, Bowing of the long bones, Short femur, Rhizomelia, Thoracic scoliosis, ... OMIM:613848
Cole-Carpenter Syndrome
Crumpled long bones, Bowing of the long bones, Recurrent fractures, Kyphosis, Abnormal form of th... ORPHA:2050
Beemer-Ertbruggen Syndrome
Increased bone mineral density ORPHA:1237
Immunodeficiency 53
Impaired lymphocyte transformation with phytohemagglutinin, Neutrophilia OMIM:617585
Cerebroretinal Microangiopathy With Calcifications And Cysts 3
Gastrointestinal hemorrhage, Inability to walk, Recurrent fractures OMIM:620368
Stuve-Wiedemann Syndrome 1
Enlarged joints, Short neck, Tibial bowing, Femoral bowing, Knee flexion contracture, Short tibia... OMIM:601559
Dermatoosteolysis, Kirghizian Type
Tarsal synostosis, Abnormality of the wrist, Osteoarthritis, Osteolysis, Abnormal diaphysis morph... ORPHA:1657
Cole-Carpenter Syndrome 1
Osteopenia, Recurrent fractures, Vertebral compression fracture, Reduced bone mineral density, Sc... OMIM:112240
Langer Mesomelic Dysplasia
Bowing of the long bones, Abnormal morphology of ulna, Micromelia, Aplasia/Hypoplasia of the fibu... ORPHA:2632
Cleidocranial Dysplasia
Hypoplastic scapulae, Wormian bones, Down-sloping shoulders, Recurrent fractures, Tapered finger,... ORPHA:1452
Paget Disease Of Bone 5, Juvenile-Onset
Osteopenia, Short humerus, Bowing of the long bones, Increased bone mineral density, Recurrent fr... OMIM:239000
Multiple Pterygium Syndrome, Lethal Type
Joint dislocation, Vertebral fusion, Abnormal cervical curvature, Multiple pterygia, Akinesia, Fl... OMIM:253290
Spondyloepimetaphyseal Dysplasia, Strudwick Type
Club-shaped proximal femur, Hyperlordosis, Metaphyseal dappling, Hypoplasia of the odontoid proce... OMIM:184250
Osteopetrosis, Autosomal Recessive 2
Pancytopenia, Osteomyelitis, Extramedullary hematopoiesis, Recurrent fractures, Mandibular osteom... OMIM:259710
Metaphyseal Chondrodysplasia, Jansen Type
Osteopenia, Hip contracture, Bowing of the long bones, Waddling gait, Metaphyseal chondrodysplasi... OMIM:156400
Autosomal Recessive Hypophosphatemic Rickets
Abnormal trabecular bone morphology, Increased bone mineral density, Osteomalacia, Rickets of the... ORPHA:289176
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B
Kyphosis, Difficulty walking, Talipes equinovarus, Scoliosis OMIM:617087
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome
Kyphosis, Platyspondyly, Osteoporosis ORPHA:2786
Zimmermann-Laband Syndrome 3
Aplasia of the distal phalanx of the 5th toe, Kyphosis, Flexion contracture, Absent distal phalan... OMIM:618658
Cleidorhizomelic Syndrome
Rhizomelia, Short middle phalanx of the 5th finger, Clinodactyly of the 5th finger, Diaphyseal th... ORPHA:1453
Frank-Ter Haar Syndrome
Genu recurvatum, Camptodactyly of finger, Joint stiffness, Kyphosis, Osteolysis, Scoliosis, Abnor... ORPHA:137834
Mitochondrial Complex I Deficiency, Nuclear Type 11
Wolff-Parkinson-White syndrome, Kyphosis, Congestive heart failure, Osteoporosis, Scoliosis, Hype... OMIM:618234
Congenital Arthrogryposis With Anterior Horn Cell Disease
Rocker bottom foot, Short neck, Kyphosis, Inability to walk, Hip dysplasia, Talipes equinovarus, ... OMIM:611890
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3
Joint laxity, Hypoplasia of the ulna, Tapered finger, Short neck, Multiple joint dislocation, Hip... OMIM:618395
Spondyloepiphyseal Dysplasia Tarda, X-Linked
Back pain, Lumbar hyperlordosis, Short neck, Kyphosis, Limitation of joint mobility, Coxa vara, H... OMIM:313400
Hemophagocytic Lymphohistiocytosis, Familial, 4
Hepatomegaly, Hypertriglyceridemia, Increased circulating ferritin concentration, Thrombocytopeni... OMIM:603552
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset
Hyperlordosis, Spinal rigidity, Kyphosis, Short neck, Flexion contracture, Dilated cardiomyopathy... OMIM:300718
Congenital Muscular Dystrophy, Ullrich Type
Long toe, Short neck, Spinal rigidity, Kyphosis, Flexion contracture, Hip dislocation, Elbow flex... ORPHA:75840
Variant Abeta2M Amyloidosis
Multiple bony cystic lesions, Reduced left ventricular ejection fraction, Wrist pain, Pathologic ... ORPHA:314652
Hypereosinophilic Syndrome, Idiopathic
Hepatomegaly, Eosinophilia, Splenomegaly, Endocardial fibrosis, Myeloproliferative disorder, Rest... OMIM:607685
Neuraminidase Deficiency
Hepatomegaly, Inguinal hernia, Bone-marrow foam cells, Cardiomegaly, Splenomegaly, Vacuolated lym... OMIM:256550
Osteosclerosis With Ichthyosis And Premature Ovarian Failure
Subperiosteal bone formation, Osteosclerosis of the base of the skull OMIM:609993
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement
Osteopenia, Abnormality of the knee, Broad-based gait, Lumbar hyperlordosis, Broad hallux, Short ... ORPHA:251028
Hypophosphatasia
Bowing of the long bones, Abnormal metaphysis morphology, Recurrent fractures, Craniosynostosis ORPHA:436
Myasthenic Syndrome, Congenital, 25, Presynaptic
Spinal rigidity, Kyphosis, Flexion contracture, Scoliosis, Joint hypermobility OMIM:618323
Osteopetrosis, Autosomal Recessive 5
Hepatomegaly, Increased bone mineral density, Extramedullary hematopoiesis, Pancytopenia, Thrombo... OMIM:259720
Spondyloepiphyseal Dysplasia Congenita
Waddling gait, Lumbar hyperlordosis, Ovoid vertebral bodies, Limited elbow movement, Short neck, ... OMIM:183900
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects
Osteopenia, Short neck, Accelerated skeletal maturation, Multiple joint dislocation, Knee disloca... OMIM:245600
Ras-Associated Autoimmune Leukoproliferative Disorder
Hemolytic anemia, Pancytopenia, Hepatomegaly, Follicular hyperplasia, Autoimmune thrombocytopenia... OMIM:614470
Stüve-Wiedemann Syndrome
Osteopenia, Bowing of the long bones, Sacral dimple, Camptodactyly of finger, Micromelia, Recurre... ORPHA:3206
Multiple Enchondromatosis, Maffucci Type
Pathologic fracture OMIM:614569
Spondyloepimetaphyseal Dysplasia, Missouri Type
Knee osteoarthritis, Flared metaphysis, Flattened epiphysis, Tibial bowing, Femoral bowing, Small... ORPHA:93356
Prenatal Bowing
Bowing of the long bones OMIM:264050
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Hemolytic anemia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Hepatit... ORPHA:444463
Immunodeficiency 27A
Hypoplasia of the femoral head, Splenomegaly, Leukocytosis, Lymphadenopathy, Hepatosplenomegaly, ... OMIM:209950
Eosinophilia, Familial
Eosinophilia, Thrombocytopenia, Leukocytosis, Myocardial eosinophilic infiltration, Anemia OMIM:131400
Spondyloperipheral Dysplasia
Short distal phalanx of the 4th finger, Short neck, Short metatarsal, Irregular vertebral endplat... OMIM:271700
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Hypoalbuminemia, Craniosynostosis, Cardiomegaly ORPHA:88643
Léri-Weill Dyschondrosteosis
Micromelia, Abnormal tibia morphology, Abnormal carpal morphology, Abnormal femur morphology, Tib... ORPHA:240
Multiple Pterygium Syndrome, X-Linked
Joint dislocation, Vertebral fusion, Abnormal cervical curvature, Multiple pterygia, Flexion cont... OMIM:312150
X-Linked Intellectual Disability, Stocco Dos Santos Type
Congenital bilateral hip dislocation, Kyphosis, Talipes equinovarus ORPHA:85288
Mu-Heavy Chain Disease
Hepatomegaly, Abnormal B cell count, Splenomegaly, Osteoporosis, Osteolysis, Lymphadenopathy, Anemia ORPHA:100024
Cryptorchidism-Arachnodactyly-Intellectual Disability Syndrome
Arachnodactyly, Joint stiffness, Kyphosis, Delayed skeletal maturation, Scoliosis ORPHA:1548
Bone Fragility With Contractures, Arterial Rupture, And Deafness
Osteopenia, Contracture of the proximal interphalangeal joint of the 2nd finger, Elbow flexion co... OMIM:612394
Osteogenesis Imperfecta
Osteopenia, Cervical kyphosis, Micromelia, Abnormal tibia morphology, Flexion contracture, Osteoa... ORPHA:666
Joubert Syndrome 18
Joint laxity, Bowing of the long bones, Trident pelvis, Postaxial polydactyly, Kyphoscoliosis, Ta... OMIM:614815
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome
Bowing of the long bones, Radial bowing, Abnormally ossified vertebrae, Abnormal fibula morpholog... ORPHA:3035
Juvenile Hyaline Fibromatosis
Abnormal diaphysis morphology, Progressive flexion contractures, Osteolysis, Joint stiffness ORPHA:2028
Hemochromatosis, Type 3
Increased circulating ferritin concentration, Elevated transferrin saturation, Arthritis, Cardiom... OMIM:604250
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome
Osteopenia, Multiple joint contractures, Metaphyseal widening, Multiple joint dislocation, Anteri... ORPHA:536467
Multiple Osteochondromas
Deformed radius, Abnormal hand morphology, Abnormal tibia morphology, Metaphyseal widening, Abnor... ORPHA:321
Tricho-Dento-Osseous Syndrome
Increased bone mineral density ORPHA:3352
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia
Hepatomegaly, Ventricular septal defect, Joint stiffness, Splenomegaly, Reduced bone mineral dens... OMIM:620210
Kniest Dysplasia
Enlarged joints, Short neck, Delayed epiphyseal ossification, Coxa vara, Tibial bowing, Genu varu... OMIM:156550
Brachyolmia Type 4 With Mild Epiphyseal And Metaphyseal Changes
Kyphoscoliosis, Bowing of the legs, Irregular vertebral endplates, Platyspondyly, Lumbar scoliosi... OMIM:612847
Greenberg Dysplasia
Micromelia, Multiple prenatal fractures, Patchy variation in bone mineral density, Tetraphocomeli... OMIM:215140
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Hypersplenism, Splenomegaly, Pancytopenia, Decreased helper T cell proportion OMIM:183350
Hypogonadotropic Hypogonadism 20 With Or Without Anosmia
Osteopenia, Osteoporosis OMIM:615270
Spinal muscular atrophy, type I, with congenital bone fractures
Osteopenia, Congenital hip dislocation, Arachnodactyly, Rocker bottom foot, Multiple prenatal fra... OMIM:271225
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly
Joint dislocation, Femoral bowing, Knee flexion contracture, Short 5th metacarpal, Radial bowing,... OMIM:618019
Osteoglophonic Dysplasia
Osteopenia, Short neck, Short metatarsal, Short palm, Pseudoarthrosis, Short phalanx of finger, B... OMIM:166250
Osteogenesis Imperfecta, Type Xv
Recurrent fractures, Platyspondyly, Bowing of limbs due to multiple fractures, Scoliosis, Joint h... OMIM:615220
Cdkl5-Deficiency Disorder
Hallux valgus, Broad proximal phalanges of the hand, Kyphosis, Gait disturbance, Scoliosis, Diffi... ORPHA:505652
Otospondylomegaepiphyseal Dysplasia
Enlarged joints, Short neck, Osteoarthritis, Abnormal iliac wing morphology, Tibial bowing, Abnor... ORPHA:1427
Osteogenesis Imperfecta, Type Vii
Osteopenia, Crumpled long bones, Wide cranial sutures, Rhizomelia, Protrusio acetabuli, Femoral r... OMIM:610682
Mucolipidosis Ii Alpha/Beta
Osteopenia, Metaphyseal widening, Thoracolumbar kyphoscoliosis, Hypoplasia of the odontoid proces... OMIM:252500
Ruvalcaba Syndrome
Short metacarpal, Micromelia, Kyphosis, Limited elbow extension, Short metatarsal, Small hand, Sh... OMIM:180870
Immunodeficiency 104
Splenomegaly, Hepatomegaly, T lymphocytopenia, Lymphadenopathy OMIM:608971
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 1
Long toe, Osteopenia, Bowing of the long bones, Joint laxity, Arachnodactyly, Phalangeal dislocat... OMIM:130070
Hypophosphatemic Bone Disease
Rickets, Osteomalacia, Bowing of the legs OMIM:146350
Acromesomelic Dysplasia, Grebe Type
Aplasia/Hypoplasia of the thumb, Bowing of the long bones, Brachydactyly, Tarsal synostosis, Micr... ORPHA:2098
Masa Syndrome
Hyperlordosis, Kyphosis, Shuffling gait, Talipes equinovarus, Adducted thumb OMIM:303350