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- B41e5da9cd45ecb379be9d38c70504082 hasDbXref "Orphanet:1578" @default.
- B41e5da9cd45ecb379be9d38c70504082 type Axiom @default.
- B41e5da9cd45ecb379be9d38c70504082 annotatedProperty IAO_0000115 @default.
- B41e5da9cd45ecb379be9d38c70504082 annotatedSource MONDO_0009908 @default.
- B41e5da9cd45ecb379be9d38c70504082 annotatedTarget "Pterin-4 alpha-carbinolamine dehydratase 1 (PCBD1) deficiency is considered a transient and benign form of hyperphenylalaninemia due to tetrahydrobiopterin deficiency, characterized by muscular hypotonia, irritability (detected by EEG), slow acquisition of psychomotor skills, age-dependent movement disorders, including dystonia and an accompanying excretion of 7-substituted pterins. Neurological developement is normal with dietary control of blood phenyalanine. PCBD1 is inherited in an autosomal recessive manner." @default.