Gene: Col1a2 MGI:88468

Log in to follow

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
increased bone mineral density Col1a2tm1b(EUCOMM)Wtsi HOM Early adult 2.49×10-06
increased circulating alkaline phosphatase level Col1a2tm1b(EUCOMM)Wtsi HOM Early adult 9.95×10-17
increased neutrophil cell number Col1a2tm1b(EUCOMM)Wtsi HOM Early adult 1.36×10-06
increased bone mineral content Col1a2tm1b(EUCOMM)Wtsi HOM Early adult 3.04×10-07
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 4.34×10-05
abnormal femur morphology Col1a2tm1b(EUCOMM)Wtsi HOM Early adult 6.09×10-07
abnormal radius morphology Col1a2tm1b(EUCOMM)Wtsi HOM   Early adult 9.97×10-05
short tibia Col1a2tm1b(EUCOMM)Wtsi HOM   Early adult 2.78×10-08
decreased total body fat amount Col1a2tm1b(EUCOMM)Wtsi HOM Early adult 8.95×10-05
decreased lymphocyte cell number Col1a2tm1b(EUCOMM)Wtsi HOM Early adult 4.04×10-05
dilated heart left ventricle Col1a2tm1b(EUCOMM)Wtsi HOM Early adult 1.00×10-07
enlarged heart Col1a2tm1b(EUCOMM)Wtsi HOM Early adult 0.00
increased large unstained cell number Col1a2tm1b(EUCOMM)Wtsi HOM Early adult 1.03×10-07
increased spleen weight Col1a2tm1b(EUCOMM)Wtsi HOM Early adult 6.12×10-07
abnormal tibia morphology Col1a2tm1b(EUCOMM)Wtsi HOM Early adult 3.52×10-05
decreased mean platelet volume Col1a2tm1b(EUCOMM)Wtsi HOM Early adult 8.77×10-05
enlarged spleen Col1a2tm1b(EUCOMM)Wtsi HOM Early adult 0.00
decreased grip strength Col1a2tm1b(EUCOMM)Wtsi HOM Early adult 2.47×10-11
abnormal ulna morphology Col1a2tm1b(EUCOMM)Wtsi HOM   Early adult 9.97×10-05
decreased circulating amylase level Col1a2tm1b(EUCOMM)Wtsi HOM   Early adult 6.97×10-05
increased heart weight Col1a2tm1b(EUCOMM)Wtsi HOM   Early adult 3.46×10-07
abnormal optic disk morphology Col1a2tm1b(EUCOMM)Wtsi HOM Early adult 9.90×10-05

Download data as:  TSV  XLS

Select physiological systems to view:
Viewing: all phenotypes
Select physiological systems to view:
Viewing: all phenotypes

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
N/A heterozygote Ambiguous
N/A homozygote Ambiguous
N/A heterozygote Ambiguous
N/A homozygote Ambiguous
N/A heterozygote Ambiguous
N/A homozygote Ambiguous
N/A heterozygote Ambiguous
N/A homozygote Ambiguous
N/A heterozygote Ambiguous
N/A homozygote Ambiguous
N/A heterozygote Ambiguous
N/A homozygote Ambiguous
N/A heterozygote Ambiguous
N/A homozygote Ambiguous
N/A heterozygote Ambiguous
N/A homozygote Ambiguous
N/A heterozygote Ambiguous
N/A homozygote Ambiguous
N/A heterozygote Ambiguous
N/A homozygote Ambiguous
N/A heterozygote Ambiguous
N/A homozygote Ambiguous
N/A heterozygote Ambiguous
N/A homozygote Ambiguous
N/A heterozygote Ambiguous
N/A homozygote Ambiguous
N/A heterozygote Ambiguous
N/A homozygote Ambiguous
N/A heterozygote Ambiguous
N/A homozygote Ambiguous
N/A heterozygote Ambiguous
N/A homozygote Ambiguous
N/A heterozygote Ambiguous
N/A homozygote Ambiguous
N/A heterozygote Ambiguous
N/A homozygote Ambiguous
N/A heterozygote Ambiguous
N/A homozygote Ambiguous
N/A heterozygote Ambiguous
N/A homozygote Ambiguous
N/A heterozygote Ambiguous
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 0.68% (4 of 584)
aorta 0.17% (1 of 584)
bone 0.0%
brain 0.68% (4 of 584)
brainstem 0.34% (2 of 584)
brown adipose tissue 0.0%
cartilage tissue 0.17% (1 of 584)
cecum 2.97% (11 of 370)
cerebellum 0.51% (3 of 584)
cerebral cortex 0.34% (2 of 584)
esophagus 1.72% (7 of 408)
eye 0.0%
gall bladder 0.0%
heart 0.34% (2 of 584)
hippocampus 0.51% (3 of 584)
hypothalamus 0.34% (2 of 584)
kidney 3.6% (21 of 584)
large intestine 1.71% (10 of 584)
liver 0.0%
lower urinary tract 0.17% (1 of 584)
lung 0.34% (2 of 584)
lymph node 0.17% (1 of 584)
mammary gland 0.0%
olfactory lobe 0.34% (2 of 584)
oral epithelium 0.0%
ovary 0.17% (1 of 584)
oviduct 0.0%
pancreas 0.86% (5 of 584)
parathyroid gland 0.18% (1 of 562)
peripheral nervous system 0.34% (2 of 584)
peyers patch 0.0%
pituitary gland 0.17% (1 of 584)
prostate gland 2.05% (12 of 584)
skeletal muscle 0.0%
skin 0.17% (1 of 584)
small intestine 1.54% (9 of 584)
spinal cord 0.51% (3 of 584)
spleen 0.51% (3 of 584)
stomach 2.05% (12 of 584)
striatum 0.51% (3 of 584)
testis 1.03% (6 of 584)
thymus 0.17% (1 of 584)
thyroid gland 2.74% (16 of 584)
trachea 0.51% (3 of 584)
trigeminal v nerve 0.0%
uterus 0.0%
vas deferens 3.67% (14 of 381)
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 1.18% (6 of 507)
ear 0.2% (1 of 507)
embryo 0.2% (1 of 508)
eye 0.2% (1 of 507)
footplate 0.2% (1 of 507)
forebrain 0.2% (1 of 507)
forelimb 0.2% (1 of 507)
handplate 0.2% (1 of 507)
head 0.99% (5 of 507)
heart 0.2% (1 of 507)
hindbrain 1.18% (6 of 507)
hindlimb 0.2% (1 of 507)
liver 0.2% (1 of 502)
lung 0.2% (1 of 502)
mandibular process 0.2% (1 of 507)
maxillary process 0.2% (1 of 507)
midbrain 0.2% (1 of 507)
oral cavity 0.2% (1 of 502)
skin 0.2% (1 of 507)
tail 0.2% (1 of 507)
tail somite group 0.2% (1 of 507)

Associated Images

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

X-ray

XRay Images Whole Body Dorso Ventral

11 Images

X-ray

XRay Images Whole Body Lateral Orientation

11 Images

Adult LacZ

LacZ Images Wholemount

33 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

11 Images

Embryo LacZ

LacZ images wholemount

8 Images

X-ray

XRay Images Forepaw

11 Images

Histopathology

Images

6 Images

X-ray

XRay Images Skull Lateral Orientation

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
Buschke-Ollendorff Syndrome
Flexion contracture, Joint stiffness, Osteopoikilosis OMIM:166700
12q14 microdeletion syndrome
Osteopoikilosis DECIPHER:76
Metaphyseal Modeling Abnormality, Skin Lesions, And Spastic Paraplegia
Increased bone mineral density OMIM:250500
Osteomesopyknosis
Increased bone mineral density OMIM:166450
Ribbing Disease
Diaphyseal sclerosis OMIM:601477
Genitourinary Tract Anomalies
Neonatal death OMIM:305690
Granulomas, Congenital Cerebral
Neonatal death OMIM:306300
Metaphyseal Chondrodysplasia, Spahr Type
Scoliosis, Hyperlordosis, Hip dysplasia, Metaphyseal chondrodysplasia, Abnormality of epiphysis m... ORPHA:2501
Pyknoachondrogenesis
Increased bone mineral density OMIM:265880
Gnathodiaphyseal Dysplasia
Scoliosis, Bowing of the long bones, Recurrent fractures, Osteopenia, Mandibular osteomyelitis, T... ORPHA:53697
Melorheostosis With Osteopoikilosis
Abnormal cortical bone morphology, Osteopoikilosis ORPHA:1879
Osteomesopyknosis
Abnormal cortical bone morphology, Increased bone mineral density ORPHA:2777
Ossification Of The Posterior Longitudinal Ligament Of Spine
Ectopic ossification, Increased bone mineral density OMIM:602475
Osteosclerosis-Ichthyosis-Premature Ovarian Failure Syndrome
Increased bone mineral density ORPHA:75325
Osteochondrosis Of The Metatarsal Bone
Abnormality of the fifth metatarsal bone, Abnormality of the fourth metatarsal bone, Flattened me... ORPHA:564003
Dentin Dysplasia
Increased bone mineral density ORPHA:1653
Multiple Epiphyseal Dysplasia, Lowry Type
Scoliosis, Genu valgum, Abnormal bone ossification, Elbow dislocation, Rhizomelia, Flattened epip... ORPHA:166016
Hyperostosis Corticalis Generalisata
Cranial hyperostosis, Generalized osteosclerosis, Abnormal cortical bone morphology ORPHA:3416
Osteopoikilosis And Dacryocystitis
Osteopoikilosis OMIM:166705
Melorheostosis, Isolated
Hyperostosis, Increased bone mineral density OMIM:155950
Ghosal Hematodiaphyseal Dysplasia
Abnormality of tibia morphology, Abnormal form of the vertebral bodies, Craniofacial hyperostosis... ORPHA:1802
Osteomalacia, Sclerosing, With Cerebral Calcification
Osteomalacia, Generalized osteosclerosis, Increased bone mineral density OMIM:259660
Brachyolmia Type 1, Hobaek Type
Scoliosis, Squared-off platyspondyly, Short iliac bones, Short neck, Flattened proximal radial ep... OMIM:271530
Van Buchem Disease
Cranial hyperostosis, Thickened cortex of long bones, Increased bone mineral density OMIM:239100
Melorheostosis
Ectopic ossification in muscle tissue, Increased bone mineral density, Hyperostosis, Joint stiffn... ORPHA:2485
Endosteal Hyperostosis, Worth Type
Sclerotic vertebral body, Abnormal form of the vertebral bodies, Craniofacial hyperostosis, Gener... ORPHA:2790
Dentin Dysplasia With Sclerotic Bones
Cortical sclerosis OMIM:125440
Eiken Syndrome
Cubitus valgus, Abnormal bone ossification, Delayed epiphyseal ossification, Short phalanx of fin... ORPHA:79106
Hip Dysplasia, Beukes Type
Scoliosis, Hip dysplasia, Abnormal bone ossification, Abnormal ossification involving the femoral... ORPHA:2114
Craniodiaphyseal Dysplasia
Cranial hyperostosis, Facial hyperostosis, Diaphyseal sclerosis OMIM:218300
Bruck Syndrome 1
Osteoporosis, Platyspondyly, Scoliosis, Protrusio acetabuli, Joint laxity, Kyphosis, Coxa vara, P... OMIM:259450
Hereditary Sensory And Autonomic Neuropathy Type 2
Foot acroosteolysis, Wormian bones, Abnormality of the knee, Osteolysis, Hyperlordosis, Abnormali... ORPHA:970
Dacryocystitis-Osteopoikilosis Syndrome
Osteopoikilosis, Increased bone mineral density ORPHA:1562
Body Mass Index Quantitative Trait Locus 20
Obesity, Increased bone mineral density OMIM:618406
Sclerosteosis
Craniofacial hyperostosis, Abnormal cortical bone morphology, Increased bone mineral density ORPHA:3152
Epiphyseal Stippling-Osteoclastic Hyperplasia Syndrome
Epiphyseal stippling, Abnormal bone ossification, Coronal cleft vertebrae, Bowing of the long bon... ORPHA:1952
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type
Scoliosis, Genu valgum, Hyperlordosis, Metaphyseal irregularity, Kyphosis, Ovoid vertebral bodies... ORPHA:93315
Fibular Hemimelia
Craniosynostosis, Hip subluxation, Joint laxity, Structural foot deformity, Bowing of the legs, J... ORPHA:93323
Pacman Dysplasia
Epiphyseal stippling, Bowing of the long bones OMIM:167220
Ehlers-Danlos Syndrome, Arthrochalasia Type, 1
Scoliosis, Joint laxity, Kyphosis, Increased susceptibility to fractures, Congenital bilateral hi... OMIM:130060
Pseudoachondroplasia
Scoliosis, Irregular carpal bones, Short phalanx of finger, Metaphyseal irregularity, Joint laxit... ORPHA:750
Metatropic Dysplasia
Scoliosis, Camptodactyly of finger, Hypoplastic cervical vertebrae, Abnormal enchondral ossificat... ORPHA:2635
Osteosclerosis With Ichthyosis And Fractures
Recurrent fractures, Cortical thickening of long bone diaphyses, Increased bone mineral density OMIM:166740
Trichodentoosseous Syndrome
Increased bone mineral density OMIM:190320
Acromesomelic Dysplasia, Maroteaux Type
Scoliosis, Hyperlordosis, Abnormal form of the vertebral bodies, Beaking of vertebral bodies, Joi... ORPHA:40
Neurologic Disease, Infantile Multisystem, With Osseous Fragility
Osteoporosis, Hip dislocation, Hip subluxation, Recurrent fractures OMIM:256720
Metaphyseal Chondrodysplasia, Schmid Type
Metaphyseal irregularity, Bowing of the legs, Waddling gait, Femoral bowing, Hip dysplasia, Ulnar... ORPHA:174
Weismann-Netter Syndrome
Scoliosis, Squared iliac bones, Abnormality of tibia morphology, Abnormal form of the vertebral b... ORPHA:3344
Osteosclerosis-Developmental Delay-Craniosynostosis Syndrome
Craniosynostosis, Increased bone mineral density ORPHA:178377
Hypophosphatemic Rickets, Autosomal Recessive, 1
Rickets, Hypophosphatemic rickets, Craniosynostosis, Increased bone mineral density OMIM:241520
Osteopathia Striata-Pigmentary Dermopathy-White Forelock Syndrome
Coarse metaphyseal trabecularization, Osteopathia striata, Abnormal diaphysis morphology, Abnorma... ORPHA:2779
Osteopetrosis, Autosomal Dominant 1
Osteopetrosis, Calvarial osteosclerosis, Generalized osteosclerosis, Thickened cortex of long bones OMIM:607634
Metaphyseal Dysplasia, Spahr Type
Genu valgum, Metaphyseal sclerosis, Metaphyseal chondrodysplasia, Metaphyseal dysplasia, Waddling... OMIM:250400
Solitary Bone Cyst
Prominent calcaneus, Abnormal ilium morphology, Abnormality of tibia morphology, Abnormal form of... ORPHA:83468
Spondyloepimetaphyseal Dysplasia With Joint Laxity
Scoliosis, Dislocated radial head, Limited elbow extension, Platyspondyly, Hip dysplasia, Joint l... ORPHA:93359
Monosomy 5P
Scoliosis, Finger syndactyly, Joint hyperflexibility, Recurrent fractures, Small hand, Abnormalit... ORPHA:281
Mazabraud Syndrome
Recurrent fractures, Bone pain, Fibrous dysplasia of the bones ORPHA:57782
Parastremmatic Dwarfism
Scoliosis, Genu valgum, Kyphosis, Flexion contracture, Short neck OMIM:168400
Distal Osteosclerosis
Hyperostosis, Craniofacial osteosclerosis, Diaphyseal sclerosis OMIM:126250
Metatropic Dysplasia
Scoliosis, Arthrogryposis multiplex congenita, Dumbbell-shaped metaphyses, Absent primary metaphy... OMIM:156530
Osteogenesis Imperfecta, Type V
Wormian bones, Joint hypermobility, Platyspondyly, Biconcave vertebral bodies, Recurrent fracture... OMIM:610967
Epiphyseal Dysplasia, Multiple, 1
Genu valgum, Delayed epiphyseal ossification, Short phalanx of finger, Generalized joint laxity, ... OMIM:132400
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor
Bulging epiphyses, Genu valgum, Generalized bone demineralization, Delayed epiphyseal ossificatio... OMIM:600785
Dysplastic Cortical Hyperostosis
Abnormal cortical bone morphology, Increased bone mineral density ORPHA:2204
Congenital Radioulnar Synostosis
Dislocated radial head, Abnormal morphology of the radius, Radioulnar synostosis, Congenital hip ... ORPHA:3269
Metaphyseal Anadysplasia
Abnormality of epiphysis morphology, Bowing of the long bones, Aplasia/Hypoplasia of the radius, ... ORPHA:1040
Osteogenesis Imperfecta, Type Xiv
Scoliosis, Recurrent fractures, Increased susceptibility to fractures, Osteopenia, Femoral bowing OMIM:615066
Pseudoachondroplasia
Scoliosis, Irregular carpal bones, Short phalanx of finger, Metaphyseal irregularity, Joint laxit... OMIM:177170
Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Enlargement of the ankles, Bulging epiphyses, Delayed epiphyseal ossification, Metaphyseal irregu... OMIM:600081
Hypochondroplasia
Scoliosis, Hyperlordosis, Abnormality of femur morphology, Abnormal form of the vertebral bodies,... ORPHA:429
Osteogenesis Imperfecta, Type Xix
Scoliosis, Biconcave vertebral bodies, Rhizomelia, Recurrent fractures, Osteopenia, Vertebral wed... OMIM:301014
Hypogonadotropic Hypogonadism 19 With Or Without Anosmia
Osteoporosis, Osteopenia OMIM:615269
Progressive Pseudorheumatoid Dysplasia
Enlarged interphalangeal joints, Joint swelling, Joint stiffness, Waddling gait, Osteoarthritis, ... OMIM:208230
Isolated Osteopoikilosis
Generalized osteosclerosis ORPHA:166119
Hypogonadotropic Hypogonadism 21 With Or Without Anosmia
Osteoporosis, Osteopenia OMIM:615271
Hypocalcemic Vitamin D-Resistant Rickets
Scoliosis, Genu valgum, Osteolysis, Abnormal form of the vertebral bodies, Bone cyst, Gait distur... ORPHA:93160
Flynn-Aird Syndrome
Osteoporosis, Joint stiffness, Increased bone density with cystic changes, Increased bone mineral... OMIM:136300
Intermediate Osteopetrosis
Cortical sclerosis, Erlenmeyer flask deformity of the femurs, Sandwich appearance of vertebral bo... ORPHA:210110
Acrocapitofemoral Dysplasia
Flared iliac wing, Short distal phalanx of finger, Cone-shaped epiphysis of the 1st metacarpal, C... OMIM:607778
Bruck Syndrome
Osteoporosis, Wormian bones, Platyspondyly, Arthrogryposis multiplex congenita, Scoliosis, Kyphos... ORPHA:2771
Endosteal Hyperostosis, Autosomal Dominant
Metacarpal diaphyseal endosteal sclerosis, Metatarsal diaphyseal endosteal sclerosis, Hyperostosi... OMIM:144750
Osteopenia And Sparse Hair
Osteopenia, Joint laxity OMIM:259690
Gnathodiaphyseal Dysplasia
Bowing of the long bones, Diaphyseal cortical sclerosis, Increased susceptibility to fractures, O... OMIM:166260
Osteogenesis Imperfecta, Type Ix
Scoliosis, Wormian bones, Platyspondyly, Decreased calvarial ossification, Kyphosis, Recurrent fr... OMIM:259440
Syndactyly Type 4
6 metacarpals, Camptodactyly of finger, Hand polydactyly, Toe syndactyly, 1-5 finger syndactyly, ... ORPHA:93405
Prader-Willi Habitus, Osteopenia, And Camptodactyly
Osteoporosis, Camptodactyly, Joint contracture of the hand, Osteopenia, Obesity OMIM:264010
Progressive Pseudorheumatoid Arthropathy Of Childhood
Scoliosis, Irregularity of vertebral bodies, Abnormal ilium morphology, Abnormal hip joint morpho... ORPHA:1159
Multiple Epiphyseal Dysplasia Type 1
Hip dysplasia, Genu valgum, Finger joint hypermobility, Knee pain, Gait disturbance, Avascular ne... ORPHA:93308
Mueller-Weiss Syndrome
Fragmented, irregular epiphyses, Limitation of movement at ankles, Abnormality of the os navicula... ORPHA:566943
Chondrodysplasia, Lethal, With Long Bone Angulation And Mixed Bone Density
Hypoplasia of the radius, Short femur, Lytic defects of humeral diaphysis, Absent ossification of... OMIM:601376
Spondyloepimetaphyseal Dysplasia, Di Rocco Type
Irregular acetabular roof, Platyspondyly, Delayed ossification of carpal bones, Metaphyseal dyspl... OMIM:617974
Lethal Faciocardiomelic Dysplasia
Radial club hand, Hypoplasia of the radius, Microretrognathia, Hypoplasia of the ulna, Bilateral ... ORPHA:1972
Chondrodysplasia, Grebe Type
Hypoplasia of the radius, Short femur, Postaxial hand polydactyly, Short phalanx of finger, Flexi... OMIM:200700
Osteopetrosis, Autosomal Recessive 6
Osteopetrosis OMIM:611497
Osteosclerotic Metaphyseal Dysplasia
Clavicular sclerosis OMIM:615198
Hypogonadotropic Hypogonadism 20 With Or Without Anosmia
Osteoporosis, Osteopenia OMIM:615270
Scheuermann Disease
Osteochondrosis, Kyphosis, Morbus Scheuermann OMIM:181440
Léri-Weill Dyschondrosteosis
Limited wrist movement, Abnormality of tibia morphology, Dorsal subluxation of ulna, Elbow disloc... ORPHA:240
Bruck Syndrome 2
Wormian bones, Platyspondyly, Flexion contracture, Osteopenia, Pterygium, Increased susceptibilit... OMIM:609220
Spondylometaphyseal Dysplasia, Corner Fracture Type
Scoliosis, Metaphyseal irregularity, Ovoid vertebral bodies, Coxa vara, Hyperconvex vertebral bod... OMIM:184255
Osteogenesis Imperfecta, Type Ii
Wormian bones, Platyspondyly, Pulmonary insufficiency, Broad long bones, Recurrent fractures, Abs... OMIM:166210
Tibial Torsion, Bilateral Medial
Scoliosis, Abnormality of tibia morphology, Bowing of the legs, Tibial torsion OMIM:188800
Acromesomelic Dysplasia, Hunter-Thompson Type
Radial bowing, Hypoplasia of the radius, Elbow dislocation, Abnormally shaped carpal bones, Hypop... OMIM:201250
Leri-Weill Dyschondrosteosis
Radial bowing, Limited wrist movement, Hypoplasia of the radius, Short 4th metacarpal, Abnormal m... OMIM:127300
Ck Syndrome
Scoliosis, Joint hypermobility, Hyperlordosis, Kyphosis, Abnormal cortical bone morphology, Abnor... OMIM:300831
Familial Expansile Osteolysis
Osteolysis, Bowing of the long bones, Bone pain, Pathologic fracture, Thin bony cortex OMIM:174810
Epiphyseal Dysplasia, Multiple, 7
Platyspondyly, Flat acetabular roof, Monkey wrench femoral neck, Genu varum, Short femoral neck, ... OMIM:617719
Osteogenesis Imperfecta, Type Xxi
Osteoporosis, Wormian bones, Joint hypermobility, Scoliosis, Platyspondyly, Recurrent fractures, ... OMIM:619131
Osteopetrosis, Autosomal Recessive 1
Hypocalcemia, Craniosynostosis, Femur fracture, Osteopetrosis, Facial paralysis, Increased bone m... OMIM:259700
Osteopetrosis, Autosomal Dominant 2
Hip osteoarthritis, Recurrent fractures, Osteopetrosis, Generalized osteosclerosis, Fractures of ... OMIM:166600
Osteogenesis Imperfecta, Type Iii
Scoliosis, Wormian bones, Protrusio acetabuli, Biconcave vertebral bodies, Decreased calvarial os... OMIM:259420
Osebold-Remondini Syndrome
Dysplastic distal radial epiphyses, Hypoplasia of the radius, Decreased finger mobility, Tarsal s... OMIM:112910
Osteogenesis Imperfecta, Type Xi
Scoliosis, Protrusio acetabuli, Joint laxity, Biconcave vertebral bodies, Coxa vara, Increased su... OMIM:610968
Lethal Congenital Contracture Syndrome Type 1
Abnormal form of the vertebral bodies, Abnormality of the elbow, Recurrent fractures, Abnormal co... ORPHA:1486
Wormian Bone-Multiple Fractures-Dentinogenesis Imperfecta-Skeletal Dysplasia
Wormian bones, Upper limb undergrowth, Abnormal cortical bone morphology, Pathologic fracture, To... ORPHA:166277
Geroderma Osteodysplasticum
Osteoporosis, Wormian bones, Platyspondyly, Biconcave vertebral bodies, Beaking of vertebral bodi... OMIM:231070
Osteoporosis-Pseudoglioma Syndrome
Abnormal femoral neck/head morphology, Wormian bones, Osteoporosis, Joint laxity, Loss of ability... ORPHA:2788
Chondrodysplasia Punctata, Tibia-Metacarpal Type
Short 4th metacarpal, Short 3rd metacarpal, Epiphyseal stippling, Limb undergrowth, Short long bo... OMIM:118651
Metaphyseal Acroscyphodysplasia
Scoliosis, Accelerated skeletal maturation, Abnormality of femur morphology, Bowing of the long b... ORPHA:1240
Hypophosphatemic Rickets With Hypercalciuria, Hereditary
Enlargement of the ankles, Bulging epiphyses, Delayed epiphyseal ossification, Metaphyseal irregu... OMIM:241530
Multiple Osteochondromas
Radial bowing, Genu valgum, Scoliosis, Abnormality of tibia morphology, Osteolysis, Elbow disloca... ORPHA:321
Osteogenesis Imperfecta, Type Iv
Scoliosis, Wormian bones, Kyphosis, Recurrent fractures, Reduced bone mineral density, Increased ... OMIM:166220
Albers-Schönberg Osteopetrosis
Hypocalcemia, Genu valgum, Abnormality of epiphysis morphology, Recurrent fractures, Generalized ... ORPHA:53
Diastrophic Dwarfism
Scoliosis, Camptodactyly of finger, Hip dysplasia, Hypoplastic cervical vertebrae, Elbow dislocat... ORPHA:628
Dysplasia Epiphysealis Hemimelica
Accelerated skeletal maturation, Genu valgum, Tarsal synostosis, Abnormality of epiphysis morphol... ORPHA:1822
Spastic Paraplegia-Paget Disease Of Bone Syndrome
Gait disturbance, Recurrent fractures, Bone pain, Increased spinal bone density, Spastic gait ORPHA:329475
Spondyloepiphyseal Dysplasia, Kondo-Fu Type
Delayed ossification of carpal bones, Kyphosis, Brachydactyly, Waddling gait OMIM:618392
Mycetoma
Abnormality of the knee, Osteoporosis, Abnormal form of the vertebral bodies, Bone cyst, Back pai... ORPHA:2583
Idiopathic Juvenile Osteoporosis
Osteoporosis, Kyphosis, Gait disturbance, Recurrent fractures, Bone pain, Vertebral compression f... ORPHA:85193
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type
Limited elbow extension, Platyspondyly, Ovoid vertebral bodies, Irregular epiphyses, Narrow iliac... OMIM:608728
Blount Disease, Adolescent
Bowing of the legs, Osteochondritis Dissecans, Genu varum OMIM:259200
Otopalatodigital Syndrome Type 1
Short hallux, Abnormality of the tarsal bones, Synostosis of carpal bones, Elbow dislocation, Bow... ORPHA:90650
Gorham-Stout Disease
Osteolysis, Abnormal bone ossification, Abnormality of finger, Patchy reduction of bone mineral d... ORPHA:73
Brachyolmia Type 1, Toledo Type
Squared-off platyspondyly, Broad tibial metaphyses, Gait disturbance, Back pain, Irregular verteb... OMIM:271630
Pelger-Huet Anomaly
Short 4th metacarpal, Short 3rd metacarpal, Upper limb undergrowth, Ventricular septal defect, Ab... OMIM:169400
Craniodiaphyseal Dysplasia, Autosomal Dominant
Cortical sclerosis, Craniofacial osteosclerosis, Craniofacial hyperostosis, Diaphyseal sclerosis OMIM:122860
Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive, Leroy-Spranger Type
Scoliosis, Genu valgum, Platyspondyly, Decreased hip abduction, Thoracic kyphosis, Irregular vert... OMIM:609223
Cranio-Osteoarthropathy
Abnormality of the knee, Abnormality of tibia morphology, Joint swelling, Abnormal cortical bone ... ORPHA:1525
Axial Osteomalacia
Osteomalacia, Increased bone mineral density OMIM:109130
Hypophosphatasia, Adult
Chondrocalcinosis, Rickets, Recurrent fractures, Osteomalacia, Pathologic fracture, Increased sus... OMIM:146300
Hypophosphatemic Rickets, X-Linked Recessive
Enlargement of the ankles, Bulging epiphyses, Delayed epiphyseal ossification, Metaphyseal irregu... OMIM:300554
Osteogenesis Imperfecta, Type Vi
Protrusio acetabuli, Joint laxity, Biconcave vertebral bodies, Beaking of vertebral bodies, Coxa ... OMIM:613982
Intellectual Developmental Disorder With Short Stature And Variable Skeletal Anomalies
Arrhythmia, Overlapping toe, Camptodactyly, Kyphosis, Short thumb, Clinodactyly of the 5th finger OMIM:618453
Epiphyseal Dysplasia, Multiple, 2
Irregular epiphyses, Epiphyseal dysplasia, Waddling gait, Flattened epiphysis, Genu varum, Knee o... OMIM:600204
Spondylometaphyseal Dysplasia, X-Linked
Platyspondyly, Enlarged joints, Short finger, Kyphosis, Sclerosis of skull base, Thoracolumbar sc... OMIM:313420
Osteogenesis Imperfecta, Type Xviii
Wormian bones, Joint hypermobility, Joint laxity, Biconcave vertebral bodies, Bowing of the long ... OMIM:617952
Brachydactylous Dwarfism, Mseleni Type
Platyspondyly, Osteoarthritis of the elbow, Protrusio acetabuli, Stiff shoulders, Hip osteoarthri... ORPHA:2619
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Enlargement of the ankles, Bulging epiphyses, Subperiosteal bone resorption, Delayed epiphyseal o... OMIM:264700
Spondyloepiphyseal Dysplasia Tarda
Scoliosis, Limited wrist movement, Localized osteoporosis, Joint swelling, Thoracic kyphosis, Fla... ORPHA:93284
Macroepiphyseal Dysplasia With Osteoporosis, Wrinkled Skin, And Aged Appearance
Osteoporosis, Enlarged joints, Joint laxity, Recurrent fractures, Epiphyseal dysplasia OMIM:248010
Urban-Rogers-Meyer Syndrome
Osteoporosis, Camptodactyly of finger, Toe syndactyly, Short neck, Abnormality of epiphysis morph... ORPHA:3409
Multiple Epiphyseal Dysplasia, Beighton Type
Lumbar platyspondyly, Abnormal hip joint morphology, Flattened femoral head, Thoracic platyspondy... ORPHA:166011
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia
Thrombocytopenia, Lymphocytosis, Decreased mean platelet volume, Lymphadenopathy OMIM:617718
Osteopetrosis And Infantile Neuroaxonal Dystrophy
Osteopetrosis OMIM:600329
Spondyloepimetaphyseal Dysplasia With Hypotrichosis
Proximal femoral metaphyseal irregularity, Decreased hip abduction, Flared iliac wing, Rhizomelia... OMIM:183849
Vitamin D-Dependent Rickets, Type 2A
Enlargement of the ankles, Bulging epiphyses, Subperiosteal bone resorption, Delayed epiphyseal o... OMIM:277440
Smith-Mccort Dysplasia 1
Scoliosis, Genu valgum, Atlantoaxial instability, Multicentric femoral head ossification, Platysp... OMIM:607326
Calvarial Doughnut Lesions With Bone Fragility
Osteoporosis, Platyspondyly, Scoliosis, Recurrent fractures, Osteopenia, Femoral bowing OMIM:126550
Acromesomelic Dysplasia, Grebe Type
Postaxial hand polydactyly, Tarsal synostosis, Synostosis of carpal bones, Bowing of the long bon... ORPHA:2098
Spondyloepimetaphyseal Dysplasia, Irapa Type
Osteoporosis, Genu valgum, Platyspondyly, Upper limb undergrowth, Short metatarsal, Synostosis of... ORPHA:93351
Achondroplasia
Limited elbow extension, Limited hip extension, Generalized joint laxity, Trident hand, Rhizomeli... OMIM:100800
Mesomelic Dwarfism-Cleft Palate-Camptodactyly Syndrome
Camptodactyly of finger, Elbow dislocation, Abnormality of epiphysis morphology, Abnormal metacar... ORPHA:2631
Osteoporosis
Osteoporosis OMIM:166710
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 2
Scoliosis, Congenital hip dislocation, Metaphyseal irregularity, Joint laxity, Posterior scallopi... OMIM:603546
Osteopetrosis With Renal Tubular Acidosis
Genu valgum, Abnormality of epiphysis morphology, Recurrent fractures, Osteopetrosis, Thrombocyto... ORPHA:2785
Lichtenstein Syndrome
Osteoporosis, Increased susceptibility to fractures, Metacarpophalangeal joint contracture, Ulnar... OMIM:246550
Grant Syndrome
Wormian bones, Abnormality of the glenoid fossa, Joint hyperflexibility, Bowing of the long bones... ORPHA:2097
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia
Hyperlordosis, Abnormality of long bone morphology, Osteolysis, Abnormality of the vertebral colu... ORPHA:52430
Dysspondyloenchondromatosis
Scoliosis, Genu valgum, Platyspondyly, Enlarged joints, Metaphyseal enchondromatosis, Anisospondy... ORPHA:85198
Langer Mesomelic Dysplasia
Radial bowing, Hypoplasia of the radius, Rudimentary fibula, Madelung deformity, Hypoplasia of th... OMIM:249700
Fetal Cytomegalovirus Syndrome
Hepatomegaly, Anemia, Splenomegaly ORPHA:294
Mucopolysaccharidosis Type 4
Scoliosis, Genu valgum, Hyperlordosis, Platyspondyly, Abnormality of epiphysis morphology, Joint ... ORPHA:582
Osteogenesis Imperfecta, Type Viii
Radial bowing, Wormian bones, Scoliosis, Platyspondyly, Joint laxity, Kyphosis, Recurrent fractur... OMIM:610915
Paget Disease Of Bone 3
Osteolysis, Fractures of the long bones, Patchy osteosclerosis OMIM:167250
Caffey Disease
Scoliosis, Periosteal thickening of long tubular bones, Cortical thickening of long bone diaphyse... ORPHA:1310
Pyle Disease
Scoliosis, Genu valgum, Limited elbow extension, Platyspondyly, Reduced bone mineral density, Met... OMIM:265900
Hypocalcemic Vitamin D-Dependent Rickets
Enlargement of the ankles, Subperiosteal bone resorption, Delayed epiphyseal ossification, Ricket... ORPHA:289157
Spondyloepimetaphyseal Dysplasia With Multiple Dislocations
Scoliosis, Multiple joint dislocation, Hip subluxation, Joint laxity, Metaphyseal irregularity, D... ORPHA:93360
Osteopetrosis, Autosomal Recessive 2
Genu valgum, Extramedullary hematopoiesis, Recurrent fractures, Osteopetrosis, Facial paralysis, ... OMIM:259710
Desbuquois Dysplasia 1
Scoliosis, Short metatarsal, Joint laxity, Phalangeal dislocation, Broad first metatarsal, Sandal... OMIM:251450
Spondylometaphyseal Dysplasia, Kozlowski Type
Irregular acetabular roof, Platyspondyly, Enlarged joints, Carpal bone hypoplasia, Severe carpal ... OMIM:184252
Caffey Disease
Cortical irregularity, Calvarial hyperostosis, Periosteal thickening of long tubular bones OMIM:114000
Geroderma Osteodysplastica
Osteoporosis, Scoliosis, Platyspondyly, Abnormal bone ossification, Abnormal form of the vertebra... ORPHA:2078
Infantile Sialic Acid Storage Disease
Metaphyseal irregularity, Vacuolated lymphocytes, Conjugated hyperbilirubinemia, Hepatomegaly, Ca... OMIM:269920
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis
Scoliosis, Genu valgum, Hyperlordosis, Accelerated skeletal maturation, Coronal cleft vertebrae, ... OMIM:618363
Dysosteosclerosis
Platyspondyly, Delayed closure of the anterior fontanelle, Sclerosis of hand bone, Progressive bo... OMIM:224300
Paget Disease Of Bone 2, Early-Onset
Osteolysis, Bowing of the long bones, Bone pain, Increased susceptibility to fractures, Fractures... OMIM:602080
Schnitzler Syndrome
Leukocytosis, Increased bone mineral density, Hepatomegaly, Anemia, Splenomegaly, Lymphadenopathy... ORPHA:37748
Pulmonary Hypoplasia, Primary
Neonatal death OMIM:265430
Oncogenic Osteomalacia
Abnormality of the tarsal bones, Abnormal vertebral morphology, Abnormal pelvis bone morphology, ... ORPHA:352540
Cortical Defects, Wormian Bones, And Dentinogenesis Imperfecta
Limited elbow extension, Delayed closure of the anterior fontanelle, Wormian bones, Hyperostosis,... OMIM:604922
Ghosal Hematodiaphyseal Dysplasia
Myelofibrosis, Hyperostosis cranialis interna, Increased bone mineral density OMIM:231095
Osteopetrosis, Autosomal Recessive 8
Osteopetrosis, Failure to thrive OMIM:615085
Epiphyseal Chondrodysplasia, Miura Type
Scoliosis, Finger clinodactyly, Broad hallux, Long hallux, Osteopenia, Arachnodactyly, Epiphyseal... OMIM:615923
Multiple Epiphyseal Dysplasia Type 5
Abnormal hip joint morphology, Joint stiffness, Arthralgia of the hip, Hip dysplasia, Genu valgum... ORPHA:93311
Spondyloepimetaphyseal Dysplasia, Matrilin-3 Type
Limited elbow extension, Enlarged joints, Limb undergrowth, Lumbar hyperlordosis, Bowing of the l... ORPHA:156728
Diastrophic Dysplasia
Costal cartilage calcification, Hypoplastic cervical vertebrae, Hitchhiker thumb, Short finger, I... OMIM:222600
Epiphyseal Dysplasia, Multiple, 5
Genu valgum, Metaphyseal irregularity, Delayed ossification of carpal bones, Irregular epiphyses,... OMIM:607078
Lethal Recessive Chondrodysplasia
Generalized osteosclerosis ORPHA:1423
Spondylocostal Dysostosis 3, Autosomal Recessive
Scoliosis, Supernumerary vertebral ossification centers, Kyphosis, Slender finger, Vertebral segm... OMIM:609813
Weismann-Netter Syndrome
Scoliosis, Squared iliac bones, Kyphosis, Fibular bowing, Horizontal sacrum, Calvarial hyperostos... OMIM:112350
Bethlem Myopathy 2
Hip dislocation, Flexion contracture, Joint laxity, Kyphosis OMIM:616471
Hypophosphatemic Rickets, X-Linked Dominant
Metaphyseal irregularity, Flattening of the talar dome, Hypophosphatemic rickets, Bone pain, Tibi... OMIM:307800
Melnick-Needles Syndrome
Scoliosis, Anisospondyly, Craniofacial hyperostosis, Joint hyperflexibility, Bowing of the long b... ORPHA:2484
Spondylometaphyseal Dysplasia, Axial
Proximal femoral metaphyseal irregularity, Rhizomelia, Retinal degeneration, Coxa vara, Narrow gr... OMIM:602271
Osteogenesis Imperfecta, Type Xiii
Osteoporosis, Joint hypermobility, Decreased body weight, Increased bone mineral density OMIM:614856
Pycnodysostosis
Hyperlordosis, Wormian bones, Osteolysis, Abnormality of the vertebral column, Abnormal vertebral... ORPHA:763
Osteosarcoma
Osteolysis, Joint swelling, Abnormality of the femoral metaphysis, Abnormality of the tibial meta... ORPHA:668
Metaphyseal Anadysplasia 2
Metaphyseal widening, Short femoral neck, Bowing of the legs, Metaphyseal irregularity OMIM:613073
Short Rib-Polydactyly Syndrome
Abnormal ilium morphology, Abnormality of long bone morphology, Polydactyly, Abnormal pelvis bone... ORPHA:1505
Metaphyseal Dysplasia Without Hypotrichosis
Joint laxity, Metaphyseal irregularity, Abnormality of the vertebral column, Metaphyseal cupping ... OMIM:250460
Stuve-Wiedemann Syndrome
Scoliosis, Short phalanx of finger, Pathologic fracture, Pulmonary arterial hypertension, Short n... OMIM:601559
Chondrodysplasia, Blomstrand Type
Advanced ossification of carpal bones, Advanced tarsal ossification, Generalized osteosclerosis OMIM:215045
Spondyloepimetaphyseal Dysplasia, Shohat Type
Scoliosis, Generalized bone demineralization, Joint laxity, Metaphyseal irregularity, Bowing of t... ORPHA:93352
Osteopetrosis, Autosomal Recessive 4
Reticulocytosis, Recurrent fractures, Osteopetrosis, Thrombocytopenia, Hepatomegaly, Facial palsy... OMIM:611490
Spondyloepiphyseal Dysplasia, Stanescu Type
Platyspondyly, Beaking of vertebral bodies, Hypoplastic ilia, Joint stiffness, Kyphoscoliosis, St... OMIM:616583
Kyphomelic Dysplasia
Abnormal form of the vertebral bodies, Bowing of the long bones, Large hands, Flat acetabular roo... ORPHA:1801
Buschke-Ollendorff Syndrome
Craniosynostosis, Abnormality of epiphysis morphology, Abnormal bone structure, Flexion contractu... ORPHA:1306
Pycnodysostosis
Osteolytic defects of the distal phalanges of the hand, Increased bone mineral density OMIM:265800
Epiphyseal Dysplasia, Multiple, 4
Scoliosis, Hip dysplasia, Hypoplasia of the femoral head, Limited elbow flexion, Epiphyseal dyspl... OMIM:226900
Marshall-Smith Syndrome
Scoliosis, Accelerated skeletal maturation, Craniosynostosis, Joint hyperflexibility, Bowing of t... ORPHA:561
Hypophosphatasia, Infantile
Platyspondyly, Craniosynostosis, Intracranial hemorrhage, Decreased calvarial ossification, Metap... OMIM:241500
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 2
Osteopenia, Bone cyst, Pathologic fracture, Gait disturbance OMIM:618193
Ceroid Lipofuscinosis, Neuronal, 9
Optic atrophy, Rod-cone dystrophy, Vacuolated lymphocytes OMIM:609055
Chondroectodermal Dysplasia With Night Blindness
Abnormality of the knee, Osteoporosis, Platyspondyly, Metaphyseal irregularity, Difficulty walkin... ORPHA:319195
Thoracomelic Dysplasia
Hyperlordosis, Genu valgum, Elbow dislocation, Joint hyperflexibility, Gait disturbance, Limb und... ORPHA:1803
Dysosteosclerosis
Platyspondyly, Craniofacial hyperostosis, Recurrent fractures, Irregular vertebral endplates, Inc... ORPHA:1782
Mitochondrial Complex I Deficiency, Nuclear Type 11
Osteoporosis, Scoliosis, Kyphosis, Congestive heart failure, Hypertrophic cardiomyopathy OMIM:618234
Metachondromatosis
Bowing of the long bones, Abnormal joint morphology OMIM:156250
Larsen-Like Osseous Dysplasia-Short Stature Syndrome
Scoliosis, Hip dysplasia, Abnormal form of the vertebral bodies, Abnormality of the metacarpal bo... ORPHA:2370
Eye Defects-Arachnodactyly-Cardiopathy Syndrome
Radioulnar synostosis, Craniofacial hyperostosis, Bowing of the long bones, Sandal gap, Abnormal ... ORPHA:2725
Dent Disease 1
Enlargement of the ankles, Bulging epiphyses, Delayed epiphyseal ossification, Metaphyseal irregu... OMIM:300009
Czech Dysplasia
Scoliosis, Platyspondyly, Short metatarsal, Thoracic kyphosis, Flexion contracture, Narrow iliac ... OMIM:609162
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Osteoporosis, Arthropathy, Sclerotic cranial sutures, Osteolysis, Abnormal form of the vertebral ... ORPHA:371428
Osteopetrosis, Autosomal Recessive 5
Hypocalcemia, Micrognathia, Extramedullary hematopoiesis, Hyperbilirubinemia, Osteopetrosis, Panc... OMIM:259720
Multiple Epiphyseal Dysplasia Type 4
Short metatarsal, Ulnar deviation of the hand, Acetabular dysplasia, Joint stiffness, Double-laye... ORPHA:93307
Spondyloepiphyseal Dysplasia Congenita
Scoliosis, Flat acetabular roof, Waddling gait, Small epiphyses, Short femoral neck, Short neck, ... ORPHA:94068
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Platyspondyly, Abnormality of epiphysis morphology, Rhizomelia, Bowing of the long bones, Decreas... ORPHA:93267
Immunodeficiency 18
Decreased proportion of CD3-positive T cells, Lymphopenia OMIM:615615
Juvenile Paget Disease
Osteoporosis, Bowing of the long bones, Recurrent fractures, Hypertension, Coarse metaphyseal tra... ORPHA:2801
Familial Osteodysplasia, Anderson Type
Scoliosis, Elbow dislocation, Abnormal form of the vertebral bodies, Kyphosis, Recurrent fracture... ORPHA:2769
Craniometadiaphyseal Dysplasia, Wormian Bone Type
Wormian bones, Overtubulated long bones, Increased bone mineral density, Abnormal diaphysis morph... ORPHA:85184
Neuronopathy, Distal Hereditary Motor, Type Viii
Scoliosis, Hyperlordosis, Arthrogryposis multiplex congenita, Kyphosis, Hip contracture, Knee fle... OMIM:600175
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B
Scoliosis, Kyphosis, Difficulty walking OMIM:617087
Ulnar Hemimelia
Radial club hand, Short forearm, Limited shoulder movement, Duplication of phalanx of 3rd finger,... ORPHA:93320
Hernia, Anterior Diaphragmatic
Neonatal death OMIM:306950
Spondyloepimetaphyseal Dysplasia, Isidor-Toutain Type
Scoliosis, Platyspondyly, Enlarged metaphyses, Lower-limb metaphyseal irregularity, Short long bo... OMIM:618728
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome
Hepatomegaly, Splenomegaly ORPHA:2274
Spondylometaphyseal Dysplasia, Kozlowski Type
Scoliosis, Genu valgum, Platyspondyly, Enlarged joints, Abnormality of epiphysis morphology, Kyph... ORPHA:93314
Osteopenia-Myopia-Hearing Loss-Intellectual Disability-Facial Dysmorphism Syndrome
Osteopenia, Down-sloping shoulders, Recurrent fractures ORPHA:91133
Duchenne And Becker Muscular Dystrophy
Scoliosis, Hyperlordosis, Gait disturbance, Slender long bone, Reduced bone mineral density, Join... ORPHA:262
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Persistence of hemoglobin F, Hepatomegaly, Anemia, Splenomegaly, Abnormal bone structure ORPHA:46532
Mesomelic Dwarfism Of Hypoplastic Tibia And Radius Type
Short tibia, Hypoplasia of the radius, Pseudoarthrosis OMIM:156230
Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures
Scoliosis, Inability to walk, Dystonia, Kyphosis, Ataxia, Lumbar hyperlordosis, Waddling gait, Ta... OMIM:616756
Osteoporosis, Juvenile
Osteoporosis OMIM:259750
Combined Osteogenesis Imperfecta And Ehlers-Danlos Syndrome 1
Scoliosis, Joint hypermobility, Recurrent fractures, Reduced bone mineral density, Recurrent join... OMIM:619115
Slc35A2-Cdg
Camptodactyly of finger, Abnormality of long bone morphology, Craniosynostosis, Hip subluxation, ... ORPHA:356961
Alpha-Mannosidosis
Scoliosis, Hip dysplasia, Synostosis of joints, Craniofacial hyperostosis, Hypoplastic inferior i... ORPHA:61
Majeed Syndrome
Hypochromic microcytic anemia, Metaphyseal irregularity, Leukocytosis, Congenital hypoplastic ane... ORPHA:77297
Epiphyseal Dysplasia, Multiple, With Miniepiphyses
Generalized joint laxity, Lumbar hyperlordosis, Irregular patellae, Patellar hypoplasia, Genu var... OMIM:609325
Achondrogenesis Type 1A
Abnormal enchondral ossification, Recurrent fractures, Short foot, Short neck, Short palm, Microm... ORPHA:93299
Hyper-Ige Recurrent Infection Syndrome 1, Autosomal Dominant
Scoliosis, Joint hypermobility, Craniosynostosis, Recurrent fractures, Osteopenia OMIM:147060
Hall-Riggs Mental Retardation Syndrome
Osteoporosis, Scoliosis, Platyspondyly, Kyphosis, Irregular vertebral endplates, Metaphyseal dysp... OMIM:234250
Spondyloepimetaphyseal Dysplasia, Missouri Type
Radial bowing, Limited elbow extension, Pear-shaped vertebrae, Platyspondyly, Flared iliac wing, ... OMIM:602111
Skeletal Defects, Genital Hypoplasia, And Mental Retardation
Short femur, Hypoplasia of the ulna, Aplasia/Hypoplasia of the radius, Fibular hypoplasia, Absent... OMIM:612447
Arthrogryposis, Distal, Type 4
Scoliosis, Camptodactyly, Deviation of the 2nd toe, Fibular deviation of toes, Tibial deviation o... OMIM:609128
Multiple Epiphyseal Dysplasia Due To Collagen 9 Anomaly
Abnormality of the knee, Genu valgum, Abnormality of epiphysis morphology, Abnormal patella morph... ORPHA:166002
Osteogenesis Imperfecta-Retinopathy-Seizures-Intellectual Disability Syndrome
Wormian bones, Recurrent fractures ORPHA:2773
Immunodeficiency 8
Lymphopenia OMIM:615401
Cerebroretinal Microangiopathy With Calcifications And Cysts 1
Osteoporosis, Genu valgum, Metaphyseal sclerosis, Scoliosis, Dystonia, Intestinal bleeding, Bowin... OMIM:612199
Fibrous Dysplasia Of Bone
Scoliosis, Abnormality of tibia morphology, Bone pain, Pathologic fracture, Abnormal lumbar spine... ORPHA:249
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness
Mesomelic arm shortening, Distal ulnar epiphyseal stippling, Scoliosis, Platyspondyly, Broad toe,... OMIM:609616
Osteopenia-Intellectual Disability-Sparse Hair Syndrome
Joint hyperflexibility, 2-3 toe syndactyly, Recurrent fractures, Osteopenia, Delayed skeletal mat... ORPHA:2324
Apolipoprotein A-I Deficiency
Splenomegaly, Anemia, Decreased HDL cholesterol concentration, Abnormality of the liver, Lymphade... ORPHA:425
Acheiropody
Absent hand, Absent forearm, Carpal bone aplasia, Lower limb peromelia, Aplasia of the ulna, Shor... OMIM:200500
Immunodeficiency 40
Lymphopenia OMIM:616433
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome
Radial bowing, Bowing of the long bones, Omphalocele, Tibial bowing, Abnormally ossified vertebra... ORPHA:3035
Dyggve-Melchior-Clausen Disease
Scoliosis, Short metatarsal, Carpal bone hypoplasia, Camptodactyly, Thoracic kyphosis, Iliac cres... OMIM:223800
Mental Retardation, X-Linked 82
Scoliosis, Kyphosis OMIM:300518
Rheumatoid Factor-Positive Polyarticular Juvenile Idiopathic Arthritis
Abnormality of limb bone morphology, Joint swelling, Abnormality of epiphysis morphology, Synovit... ORPHA:85435
Storage Pool Platelet Disease
Decreased mean platelet volume, Acute leukemia OMIM:185050
Infantile Systemic Hyalinosis
Osteoporosis, Camptodactyly of finger, Recurrent fractures, Telangiectasia of the skin, Osteomala... ORPHA:2176
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Hypoplasia of the thymus, Lymphopenia, Metaphyseal chondrodysplasia OMIM:200900
Congenital Bowing Of Long Bones
Hyperlordosis, Bowing of the long bones ORPHA:2292
Symbrachydactyly Of Hands And Feet
Aplasia/Hypoplasia of the radius, Aplasia/Hypoplasia of the thumb, Abnormality of the humerus, Ab... ORPHA:1570
Spastic Paraplegia 18, Autosomal Recessive
Scoliosis, Gait disturbance, Kyphosis OMIM:611225
Richieri Costa-Da Silva Syndrome
Inability to walk, Genu valgum, Generalized bone demineralization, Beaking of vertebral bodies, D... ORPHA:3101
Congenital Disorder Of Glycosylation, Type Ig
Hypocalcemia, Hypoplasia of the radius, Short femur, Rhizomelia, Short humerus, Sandal gap, Short... OMIM:607143
Wiskott-Aldrich Syndrome
Iron deficiency anemia, Decreased mean platelet volume, Decreased proportion of CD8-positive T ce... OMIM:301000
Spondylo-Megaepiphyseal-Metaphyseal Dysplasia
Genu valgum, Delayed pubic bone ossification, Metaphyseal irregularity, Enlarged epiphyses, Hypop... OMIM:613330
Ethanolaminosis
Cardiomegaly OMIM:227150
Cutis Laxa, Autosomal Recessive, Type Iib
Scoliosis, Joint hypermobility, Congenital hip dislocation, Bowing of the long bones, Osteopenia OMIM:612940
Contractural Arachnodactyly, Congenital
Scoliosis, Camptodactyly, Metatarsus adductus, Congenital kyphoscoliosis, Wrist flexion contractu... OMIM:121050
Neonatal Severe Primary Hyperparathyroidism
Abnormality of the metaphysis, Recurrent fractures, Hepatomegaly, Splenomegaly ORPHA:417
Familial Scheuermann Disease
Kyphosis, Abnormal form of the vertebral bodies ORPHA:3135
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant
Overlapping fingers, Scoliosis, Arthrogryposis multiplex congenita, Congenital hip dislocation, K... OMIM:618291
Osteogenesis Imperfecta, Type I
Wormian bones, Joint hypermobility, Recurrent fractures, Increased susceptibility to fractures, O... OMIM:166200
Metaphyseal Chondrodysplasia, Schmid Type
Irregular acetabular roof, Platyspondyly, Metaphyseal chondrodysplasia, Short middle phalanx of f... OMIM:156500
Immunodeficiency 27A
Thrombocytosis, Leukocytosis, Salmonella osteomyelitis, Histiocytosis, Hypoalbuminemia, Anemia, S... OMIM:209950
Neutrophilia, Hereditary
Neutrophilia, Hepatosplenomegaly OMIM:162830
Autosomal Recessive Hypophosphatemic Rickets
Craniosynostosis, Abnormal trabecular bone morphology, Hypophosphatemic rickets, Sclerotic verteb... ORPHA:289176
Myasthenic Syndrome, Congenital, 25, Presynaptic
Scoliosis, Joint hypermobility, Kyphosis, Flexion contracture, Spinal rigidity OMIM:618323
Orofaciodigital Syndrome Type 10
Mesomelic arm shortening, Radial deviation of the hand, Prominent calcaneus, Oligodactyly, Tarsal... ORPHA:2756
Spondyloepimetaphyseal Dysplasia, Irapa Type
Hypoplastic sacrum, Genu valgum, Limited elbow extension, Upper limb undergrowth, Short metatarsa... OMIM:271650
Odontochondrodysplasia
Scoliosis, Platyspondyly, Square pelvis bone, Joint hyperflexibility, Bowing of the long bones, C... ORPHA:166272
Leri Pleonosteosis
Scoliosis, Camptodactyly of finger, Cubitus valgus, Broad thumb, Abnormality of finger, Elbow dis... ORPHA:2900
Wiskott-Aldrich Syndrome, Autosomal Dominant
Iron deficiency anemia, Decreased mean platelet volume, Hemolytic anemia, Lymphopenia, Thrombocyt... OMIM:600903
Liberfarb Syndrome
Retinal pigment epithelial mottling, Retinal degeneration, Delayed epiphyseal ossification, Metap... OMIM:618889
Odontochondrodysplasia 1
Scoliosis, Joint hypermobility, Short phalanx of finger, Flared iliac wing, Flat acetabular roof,... OMIM:184260
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome
Cubitus valgus, Kyphosis, Joint hyperflexibility, Gait disturbance ORPHA:1875
Rhizomelic Syndrome, Urbach Type
Abnormality of the knee, Preaxial hand polydactyly, Short neck, Abnormal form of the vertebral bo... ORPHA:3098
Neuraminidase Deficiency
Bone-marrow foam cells, Epiphyseal stippling, Vacuolated lymphocytes, Hepatomegaly, Inguinal hern... OMIM:256550
Spondyloepimetaphyseal Dysplasia, Shohat Type
Vertebral hypoplasia, Platyspondyly, Joint laxity, Metaphyseal irregularity, Central vertebral hy... OMIM:602557
Spondyloepimetaphyseal Dysplasia, Strudwick Type
Scoliosis, Genu valgum, Club-shaped proximal femur, Delayed pubic bone ossification, Hyperlordosi... OMIM:184250
Thrombocytopenia 1
Joint hemorrhage, Decreased mean platelet volume, Intermittent thrombocytopenia, Congenital throm... OMIM:313900
Pachydermoperiostosis
Osteoporosis, Scoliosis, Osteolysis, Joint swelling, Gastrointestinal hemorrhage, Abnormality of ... ORPHA:2796
Specific Granule Deficiency 2
Absent neutrophil specific granules, Neutropenia, Sandal gap, Thrombocytopenia, Anemia, Osteopeni... OMIM:617475
Congenital Disorder Of Glycosylation, Type Iik
Osteoporosis, Joint laxity, Metaphyseal dysplasia, Kyphoscoliosis, Diaphyseal dysplasia, Epiphyse... OMIM:614727
Xk Aprosencephaly Syndrome
Abnormal morphology of the radius, Atrial septal defect, Ventricular septal defect ORPHA:3469
Greenberg Dysplasia
Epiphyseal stippling, Short phalanx of finger, Sandal gap, Abnormal pelvis bone ossification, Mul... OMIM:215140
Mesomelic Dysplasia, Savarirayan Type
Dislocated radial head, Mesomelia, Talipes equinovalgus, Short tibia, Hip dislocation, Fibular ap... OMIM:605274
Intellectual Developmental Disorder, X-Linked, Syndromic, Stocco Dos Santos Type
Scoliosis, Kyphosis, Small hand, Short foot, Hyperactivity, Talipes equinovarus, Hip dislocation OMIM:300434
Paget Disease Of Bone 5, Juvenile-Onset
Osteoporosis, Ankylosis, Kyphosis, Bowing of the long bones, Recurrent fractures, Increased bone ... OMIM:239000
Dysostosis, Stanescu Type
Scoliosis, Wormian bones, Hyperlordosis, Massively thickened long bone cortices, Abnormality of e... ORPHA:1798
Gaucher Disease Type 1
Cirrhosis, Osteolysis, Pericardial effusion, Pedal edema, Increased bone mineral density, Pancyto... ORPHA:77259
Metaphyseal Dysplasia, Anetoderma, And Optic Atrophy
Macular atrophy, Metaphyseal dysplasia, Optic atrophy, Cranial nerve compression OMIM:250450
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations
Scoliosis, Generalized bone demineralization, Short phalanx of finger, Elbow dislocation, Tricusp... OMIM:143095
Boomerang Dysplasia
Abnormality of tibia morphology, Abnormal bone ossification, Abnormality of femur morphology, Poo... ORPHA:1263
Chst3-Related Skeletal Dysplasia
Scoliosis, Genu valgum, Cubitus valgus, Enlarged joints, Abnormal form of the vertebral bodies, R... ORPHA:263463
X-Linked Hypophosphatemia
Craniosynostosis, Flared iliac wing, Generalized osteosclerosis, Bone pain, Bowing of the legs, V... ORPHA:89936
Hereditary Hypophosphatemic Rickets With Hypercalciuria
Hypophosphatemic rickets, Bone pain, Reduced bone mineral density, Osteomalacia, Bowing of the le... ORPHA:157215
Vitamin D-Dependent Rickets, Type 3
Metaphyseal cupping, Bowing of the legs, Flared metaphysis, Genu varum, Osteopenia OMIM:619073
Congenital Arthrogryposis With Anterior Horn Cell Disease
Scoliosis, Rocker bottom foot, Hip dysplasia, Arthrogryposis multiplex congenita, Dystonia, Inabi... OMIM:611890
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset
Scoliosis, Hyperlordosis, Kyphosis, Flexion contracture, Spinal rigidity, Dilated cardiomyopathy,... OMIM:300718
Diamond-Blackfan Anemia 11
Hypoplasia of the radius, Radioulnar synostosis, Forearm reduction defects, Abnormal digit morpho... OMIM:614900
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome
Craniosynostosis, Carpal bone hypoplasia, Flattened femoral head, Thoracic platyspondyly, Toe cli... ORPHA:457395
Mucopolysaccharidosis, Type Iva
Osteoporosis, Genu valgum, Scoliosis, Hyperlordosis, Platyspondyly, Joint laxity, Constricted ili... OMIM:253000
Glycoprotein Storage Disease
Gout, Splenomegaly OMIM:232900
Osteogenesis Imperfecta Congenita, Microcephaly, And Cataracts
Wormian bones, Decreased calvarial ossification, Multiple prenatal fractures, Bowing of limbs due... OMIM:259410
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Osteoporosis, Camptodactyly of finger, Scoliosis, Kyphosis, Ataxia, Abnormality of the cervical s... ORPHA:48431
Mucopolysaccharidosis, Type Ivb
Osteoporosis, Genu valgum, Scoliosis, Hyperlordosis, Platyspondyly, Joint laxity, Constricted ili... OMIM:253010
Immunodeficiency 69
Increased circulating ferritin concentration, Thrombocytosis, Leukocytosis, Pancytopenia, Anemia,... OMIM:618963
X-Linked Intellectual Disability, Stocco Dos Santos Type
Talipes equinovarus, Kyphosis, Congenital bilateral hip dislocation, Hyperactivity ORPHA:85288
Leukocyte Adhesion Deficiency, Type Iii
Leukocytosis, Extramedullary hematopoiesis, Osteopetrosis, Hepatomegaly, Anemia, Splenomegaly, Ab... OMIM:612840
Ulnar Hypoplasia
Radial bowing, Distal ulnar hypoplasia, Radial dysplasia, Mesomelic arm shortening, Hypoplasia of... OMIM:191440
Orofaciodigital Syndrome Viii
Polydactyly, Short tibia, Syndactyly OMIM:300484
Myopathic Ehlers-Danlos Syndrome
Scoliosis, Joint hypermobility, Toe walking, Elbow flexion contracture, Hyperlordosis, Patellar s... ORPHA:536516
Spondylometaphyseal Dysplasia, Schmidt Type
Genu valgum, Platyspondyly, Hypoplastic pelvis, Metaphyseal dysplasia, Short long bone, Joint dis... ORPHA:93316
Hydrocephaly-Tall Stature-Joint Laxity Syndrome
Scoliosis, Aortic regurgitation, Joint hyperflexibility, Kyphosis, Gait disturbance, Shoulder dis... ORPHA:2181
Dyschondrosteosis And Nephritis
Radial bowing, Short forearm, Madelung deformity, Short tibia, Ulnar bowing OMIM:127350
Campomelic Dysplasia
Scoliosis, Poorly ossified cervical vertebrae, Hypoplastic inferior ilia, Kyphosis, Bowing of the... ORPHA:140
Neurodevelopmental Disorder With Cerebellar Hypoplasia And Spasticity
Optic atrophy, Overlapping toe OMIM:618572
Shashi-Pena Syndrome
Osteoporosis, Scoliosis, Kyphosis, Accelerated skeletal maturation OMIM:617190
Hypergonadotropic Hypogonadism-Cataract Syndrome
Osteoporosis, Reduced bone mineral density, Recurrent fractures, Delayed skeletal maturation ORPHA:2410
Thrombocytopenia 3
Thrombocytopenia, Decreased mean platelet volume OMIM:273900
Sitosterolemia 1
Impaired platelet aggregation, Hypercholesterolemia, Episodic hemolytic anemia, Chronic hemolytic... OMIM:210250
Mesomelic Limb Shortening And Bowing
Mesomelic arm shortening, Camptodactyly of finger, Bowing of the legs, Bowing of the arm, Mesomel... OMIM:249710
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3
Dislocated radial head, Camptodactyly of finger, Platyspondyly, Short phalanx of finger, Joint la... OMIM:612350
Langer Mesomelic Dysplasia
Mesomelic/rhizomelic limb shortening, Abnormality of epiphysis morphology, Bowing of the long bon... ORPHA:2632
Autosomal Recessive Primary Microcephaly
Abnormal cortical bone morphology ORPHA:2512
Brittle Cornea Syndrome
Osteoporosis, Scoliosis, Hip dysplasia, Abnormality of epiphysis morphology, Joint hyperflexibili... ORPHA:90354
Dermatosparaxis Ehlers-Danlos Syndrome
Osteoporosis, Scoliosis, Hip dysplasia, Rickets, Joint hyperflexibility, Abnormal joint morpholog... ORPHA:1901
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures
Hip subluxation, Large iliac wing, Joint laxity, Flared iliac wing, Ovoid vertebral bodies, Metat... OMIM:271640
Hemophagocytic Lymphohistiocytosis, Familial, 4
Increased circulating ferritin concentration, Hemophagocytosis, Neutropenia, Thrombocytopenia, Hy... OMIM:603552
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome
Foot oligodactyly, Tibial bowing, Syndactyly, Hand oligodactyly, Short tibia, Fibular aplasia, Ab... OMIM:246570
Dermatoosteolysis, Kirghizian Type
Scoliosis, Osteolysis, Tarsal synostosis, Abnormal diaphysis morphology, Abnormality of the wrist... ORPHA:1657
Metaphyseal Acroscyphodysplasia
Irregular phalanges, Scoliosis, Accelerated skeletal maturation, Craniosynostosis, Short phalanx ... OMIM:250215
Niemann-Pick Disease, Type B
Bone-marrow foam cells, Abnormal macular morphology, Sea-blue histiocytosis, Hypertriglyceridemia... OMIM:607616
Hypoplastic Tibiae-Postaxial Polydactyly Syndrome
Triphalangeal thumb, Camptodactyly of finger, Postaxial hand polydactyly, Preaxial hand polydacty... ORPHA:3332
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 1
Radial bowing, Ulnar bowing, Congenital thrombocytopenia, Syndactyly, Aplastic anemia, Amegakaryo... OMIM:605432
Otospondylomegaepiphyseal Dysplasia