eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| maternal phenylketonuria | ||||
| Disease ID | 1383 |
|---|---|
| Disease | maternal phenylketonuria |
| Definition | A condition occurring in untreated or partially treated females with PHENYLKETONURIA when they become pregnant. This may result in damages to the FETUS, including MICROCEPHALY; MENTAL RETARDATION; congenital heart disease; FETAL GROWTH RETARDATION; and CRANIOFACIAL ABNORMALITIES. (From Am J Med Genet 1997 Mar 3;69(1):89-95) |
| Synonym | in phenylketonuria, pregnancy in phenylketonurias, pregnancy maternal phenylalanine hydroxylase defic dis maternal phenylalanine hydroxylase deficiency disease maternal phenylketonuria (disorder) maternal pku phenylalanine-hydroxylase deficiency disease, maternal phenylketonuria in pregnancy phenylketonuria pregnancy phenylketonuria, maternal phenylketonuria, maternal [disease/finding] phenylketonuria, pregnancy in phenylketonurias, pregnancy in pku maternal pku, maternal pregn phenylketonuria pregnancy in phenylketonuria pregnancy in phenylketonurias |
| Orphanet | |
| DOID | |
| UMLS | C0085547 |
| MeSH | |
| SNOMED-CT | |
| Comorbidity | UMLS | Disease | Sentences' Count(Total Sentences:3) |
| Curated Gene | Entrez_id | Symbol | Resource(Total Genes:1) |
| Inferring Gene | (Waiting for update.) |
| Text Mined Gene | (Waiting for update.) |
| Locus | Symbol | Locus(Total Locus:1) PAH | 12q23.2 |
| Disease ID | 1383 |
|---|---|
| Disease | maternal phenylketonuria |
| Integrated Phenotype | (Waiting for update.) |
| Text Mined Phenotype | HPO | Name | Sentences' Count(Total Phenotypes:3) |
| Disease ID | 1383 |
|---|---|
| Disease | maternal phenylketonuria |
| Manually Symptom | UMLS | Name(Total Manually Symptoms:7) |
| Text Mined Symptom | (Waiting for update.) |
Manually Genotype(Total Text Mining Genotypes:0) |
|---|
| (Waiting for update.) |
Text Mining Genotype(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
All Snps(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
GWASdb Annotation(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
GWASdb Snp Trait(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
Mapped by lexical matching(Total Items:0) |
|---|
| (Waiting for update.) |
Mapped by homologous gene(Total Items:0) |
|---|
| (Waiting for update.) |
| Disease ID | 1383 |
|---|---|
| Disease | maternal phenylketonuria |
| Case | (Waiting for update.) |