HPO ID | HPO Term |
---|---|
HP:0003256 | Abnormality of the coagulation cascade |
HP:0002079 | Hypoplasia of the corpus callosum |
HP:0011967 | Decreased circulating copper concentration |
HP:0001410 | Decreased liver function |
HP:0010818 | Generalized tonic seizure |
HP:0002506 | Diffuse cerebral atrophy |
HP:0001249 | Intellectual disability |
HP:0002510 | Spastic tetraplegia |
HP:0010837 | Decreased circulating ceruloplasmin concentration |
HP:0001999 | Abnormal facial shape |
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Supported by JST NBDC Grant Number JPMJND2204
Partly supported by NIH Common Fund Grant #1U01GM125267-01
GlyCosmos Portal v4.1.0
Last updated: December 9, 2024