|
Symbol Name ID |
Bgn
biglycan MGI:88158 |
| * | Aspects of the system are reported to show a normal phenotype. |
| Darker colors indicate more annotations |
| Human Phenotypes | Frontal bossing |
Dolichocephaly |
Hypoplasia of the maxilla |
Malar flattening |
Relative macrocephaly |
Genu varum |
Broad long bone diaphyses |
Broad distal phalanx of finger |
Cone-shaped epiphyses of the phalanges of the hand |
Short phalanx of finger |
Arachnodactyly |
Broad phalanx |
Brachydactyly |
Cone-shaped metacarpal epiphyses |
Prominent styloid process of ulna |
Cone-shaped distal radial epiphysis |
Coxa valga |
Long fibula |
Short foot |
Metaphyseal irregularity |
Long ulna |
Short metacarpal |
Broad metacarpals |
Short palm |
Flat acetabular roof |
Delayed ossification of carpal bones |
Limited elbow extension |
Joint contracture |
Camptodactyly |
Joint hypermobility |
Cone-shaped epiphyses fused within their metaphyses |
Broad long bones |
Short long bone |
Flared iliac wing |
Narrow pelvis bone |
Short clavicles |
Posterior rib cupping |
Abnormal sternum morphology |
Pectus carinatum |
Lumbar hyperlordosis |
Kyphosis |
Hypoplasia of the odontoid process |
Platyspondyly |
Anterior wedging of T11 |
Anterior wedging of T12 |
Cervical spine instability |
Disproportionate short-trunk short stature |
Joint dislocation |
Spondyloepimetaphyseal dysplasia |
| Disease(s) Associated with BGN | |||||||||||||||||||||||||||||||||||||||||||||||||
| Meester-Loeys syndrome | |||||||||||||||||||||||||||||||||||||||||||||||||
| X-linked spondyloepimetaphyseal dysplasia |
| Mouse Phenotypes | skeleton phenotype |
osteoarthritis |
abnormal femur morphology |
short femur |
abnormal tendon collagen fibril morphology |
abnormal long bone diaphysis morphology |
abnormal long bone epiphysis morphology |
abnormal long bone metaphysis morphology |
abnormal bone collagen fibril morphology |
decreased bone mineral content |
decreased compact bone thickness |
decreased osteoblast cell number |
abnormal trabecular bone morphology |
osteoporosis |
abnormal bone ossification |
|
| Availability | Mouse Genotype | |||||||||||||||
| Bgntm1Mfy/Bgntm1Mfy | * | |||||||||||||||
| Bgntm1Mfy/Y | ||||||||||||||||
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO) |
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last database update 04/30/2024 MGI 6.23 |
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