HPO ID | HPO Term |
---|---|
HP:0003236 | Elevated circulating creatine kinase concentration |
HP:0006785 | Limb-girdle muscular dystrophy |
HP:0002091 | Restrictive ventilatory defect |
HP:0011462 | Young adult onset |
HP:0003691 | Scapular winging |
HP:0000007 | Autosomal recessive inheritance |
HP:0008994 | Proximal muscle weakness in lower limbs |
HP:0003677 | Slowly progressive |
HP:0012548 | Fatty replacement of skeletal muscle |
HP:0002093 | Respiratory insufficiency |
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Supported by JST NBDC Grant Number JPMJND2204
Partly supported by NIH Common Fund Grant #1U01GM125267-01
GlyCosmos Portal v4.0.0
Last updated: August 19, 2024