PHGDH deficiency, infantile/juvenile form
serine deficiency that has material basis in deficiency of phosphoglycerate dehydrogenase which results in a disruption of L-serine biosynthesis
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PHGDH deficiency, infantile/juvenile form
Summary
PHGDH deficiency, infantile/juvenile form is a rare disease[1].
Key Facts
- PHGDH deficiency, infantile/juvenile form's instance of is recorded as rare disease[2].
- PHGDH deficiency, infantile/juvenile form's instance of is recorded as class of disease[3].
- PHGDH deficiency, infantile/juvenile form is a type of serine deficiency[4].
- PHGDH deficiency, infantile/juvenile form is a type of 3-phosphoglycerate dehydrogenase deficiency[5].
- PHGDH deficiency, infantile/juvenile form is a type of genetic syndromic intellectual disability[6].
- PHGDH deficiency, infantile/juvenile form's genetic association is recorded as PHGDH[7].
- PHGDH deficiency, infantile/juvenile form's exact match is recorded as http://purl.obolibrary.org/obo/DOID_0050722[8].
- PHGDH deficiency, infantile/juvenile form's exact match is recorded as http://identifiers.org/doid/DOID:0050722[9].
- PHGDH deficiency, infantile/juvenile form's exact match is recorded as http://www.orpha.net/ORDO/Orphanet_79351[10].
- PHGDH deficiency, infantile/juvenile form's on focus list of Wikimedia project is recorded as WikiProject Medicine[11].