loading...| Preferred Name |
PROTOPORPHYRIA, ERYTHROPOIETIC, X-LINKED |
| Synonyms |
ERYTHROHEPATIC PROTOPORPHYRIA, X-LINKED |
| ID |
http://purl.bioontology.org/ontology/OMIM/300752 |
| altLabel |
ERYTHROHEPATIC PROTOPORPHYRIA, X-LINKED PROTOPORPHYRIA, ERYTHROPOIETIC, X-LINKED DOMINANT XLEPP XLDPP |
| cui |
C2677889 |
| Gene Locus |
Xp11.21 |
| Gene Symbol |
XLEPP SIDBA1 XLSA ALAS2 ANH1 ASB |
| Has manifestation |
http://purl.bioontology.org/ontology/OMIM/MTHU042261 http://purl.bioontology.org/ontology/OMIM/MTHU015589 http://purl.bioontology.org/ontology/OMIM/MTHU041486 http://purl.bioontology.org/ontology/OMIM/MTHU037301 |
| MIMTYPEMEANING |
Phenotype description, molecular basis known. |
| notation |
300752 |
| OMIM Entry Type |
3 |
| OMIM MimType Value |
pound |
| prefLabel |
PROTOPORPHYRIA, ERYTHROPOIETIC, X-LINKED |
| Scope Statement |
Onset in early childhood [MISCELLANEOUS] Caused by mutation in the delta-aminolevulinate synthase 2 gene (ALAS2, 301300.0015) [MOLECULAR BASIS] Some females with the mutation may be unaffected or mildly affected due to skewed X-chromosome inactivation [MISCELLANEOUS] |
| tui |
T047 |
| Delete | Mapping To | Ontology | Source |
|---|---|---|---|
| http://purl.bioontology.org/ontology/MESH/C567464 | Medical Subject Headings / 医学主题词表 | CUI |