has material basis in germline mutation in disease has basis in disruption of disease caused by disruption of ALDH4A1 L-glutamate gamma-semialdehyde dehydrogenase activity hyperprolinemia type 2 https://github.com/monarch-initiative/mondo/issues/7145 https://rarediseases.info.nih.gov/diseases/1798/delta-1-pyrroline-5-carboxylate-dehydrogenase-deficiency https://rarediseases.info.nih.gov/diseases/6710/hyperprolinemia-type-2 https://www.malacards.org/card/hyperprolinemia_type_ii MEDGEN:419175 type 2 hyperprolinemia OMIM:239510 hyperprolinemia caused by mutation in ALDH4A1 1 alpha pyrroline-5-carboxylate dehydrogenase deficiency UMLS:C2931835 delta-1-pyrroline-5-carboxylate dehydrogenase deficiency MedDRA:10058514 ALDH4A1 hyperprolinemia MESH:C538385 MedDRA:10058512 DOID:0080543 hyperprolinemia type 2 1-pyrroline-5-carboxylate dehydrogenase activity disease MONDO:0009401 HYRPRO2 hyperprolinemia, type II Hyperprolinemia type 2 is an autosomal recessive proline metabolism disorder due to pyroline-5-carboxylate dehydrogenase deficiency. The condition is often benign but clinical signs may include seizures, intellectual deficit and mild developmental delay. GARD:0006710 disorder of 1-pyrroline-5-carboxylate dehydrogenase activity HPII Orphanet:79101 delta1-pyrroline-5-carboxylate dehydrogenase deficiency SCTID:717181004 hyperprolinemia