|
Symbol Name ID |
Idua
iduronidase, alpha-L MGI:96418 |
| Darker colors indicate more annotations |
| Human Phenotypes | Frontal bossing |
Cranial hyperostosis |
Calvarial hyperostosis |
Dolichocephaly |
Micrognathia |
Mandibular prognathia |
J-shaped sella turcica |
Macrocephaly |
Short neck |
Abnormal diaphysis morphology |
Genu valgum |
Diaphyseal undertubulation |
Camptodactyly of finger |
Contracture of the distal interphalangeal joint of the fingers |
Hypoplasia of the femoral head |
Coxa valga |
Metaphyseal widening |
Abnormality of the elbow |
Flexion contracture |
Limitation of joint mobility |
Joint stiffness |
Hand pain |
Abnormality of the skeletal system |
Abnormal epiphysis morphology |
Flared iliac wing |
Narrow pelvis bone |
Abnormal clavicle morphology |
Short clavicles |
Abnormal rib morphology |
Kyphosis |
Scoliosis |
Hypoplasia of the odontoid process |
Abnormal vertebral morphology |
Biconcave vertebral bodies |
C1-C2 subluxation |
Spinal canal stenosis |
Spondylolisthesis |
Dysostosis multiplex |
Skeletal dysplasia |
| Disease(s) Associated with IDUA | |||||||||||||||||||||||||||||||||||||||
| mucopolysaccharidosis Ih | |||||||||||||||||||||||||||||||||||||||
| mucopolysaccharidosis Ih/s | |||||||||||||||||||||||||||||||||||||||
| Scheie syndrome |
| Mouse Phenotypes | abnormal basicranium morphology |
abnormal foramen magnum morphology |
increased cranium width |
abnormal zygomatic arch morphology |
abnormal incisor morphology |
abnormal mandibular condyloid process morphology |
abnormal zygomatic bone morphology |
spiral ligament degeneration |
hip dislocation |
short femur |
increased diameter of femur |
abnormal tibia morphology |
abnormal long bone morphology |
abnormal long bone diaphysis morphology |
abnormal long bone hypertrophic chondrocyte zone |
abnormal axial skeleton morphology |
abnormal rib morphology |
kyphosis |
abnormal vertebrae morphology |
abnormal cervical vertebrae morphology |
increased bone mineral density of femur |
increased bone mineral density |
increased trabecular bone volume |
increased osteoblast cell number |
increased bone trabecula number |
decreased bone trabecular spacing |
abnormal chondrocyte morphology |
|
| Availability | Mouse Genotype | |||||||||||||||||||||||||||
| Iduam1Btlr/Iduam1Btlr | ||||||||||||||||||||||||||||
| Iduatm1.1Kmke/Iduatm1.1Kmke | ||||||||||||||||||||||||||||
| Iduatm1Clk/Iduatm1Clk | ||||||||||||||||||||||||||||
| Iduatm1Efn/Iduatm1Efn | ||||||||||||||||||||||||||||
| Iduaem1Btlr/Iduam1Btlr | ||||||||||||||||||||||||||||
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 04/23/2024 MGI 6.23 |
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