UniProt ID | Protein Name | Source |
---|---|---|
O15305 | Phosphomannomutase 2 | |
O75352 | Mannose-P-dolichol utilization defect 1 protein |
HPO ID | HPO Term |
---|---|
HP:0002813 | Abnormal limb bone morphology |
HP:0003186 | Inverted nipples |
HP:0005871 | Metaphyseal chondrodysplasia |
HP:0009125 | Lipodystrophy |
HP:0011024 | Abnormality of the gastrointestinal tract |
HP:0011968 | Feeding difficulties |
HP:0012110 | Hypoplasia of the pons |
HP:0012157 | Subcortical cerebral atrophy |
HP:0012305 | Coarctation of the descending aortic arch |
HP:0012379 | Abnormal circulating enzyme concentration or activity |
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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