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loading...| Preferred Name |
ALPHA-FETOPROTEIN DEFICIENCY |
|
| Synonyms |
AFPD |
|
| ID |
http://purl.bioontology.org/ontology/OMIM/615969 |
|
| altLabel |
AFPD |
|
| cui |
C1863081 |
|
| Gene Locus |
4q11-q13 |
|
| Gene Symbol |
AFP HPAFP AFPD |
|
| Has manifestation | ||
| MIMTYPEMEANING |
Phenotype description, molecular basis known. |
|
| notation |
615969 |
|
| OMIM Entry Type |
3 |
|
| OMIM MimType Value |
pound |
|
| prefLabel |
ALPHA-FETOPROTEIN DEFICIENCY |
|
| Scope Statement |
Benign condition [MISCELLANEOUS] Major fetal plasma protein produced by yolk sac and liver [MISCELLANEOUS] Caused by mutation in the alpha-fetoprotein gene (AFP, 104150.0002) [MOLECULAR BASIS] |
|
| tui |
T047 |
Create mapping
| Delete | Mapping To | Ontology | Source |
|---|---|---|---|
| http://purl.bioontology.org/ontology/MESH/C566300 | MESH | CUI | |
| http://phenomebrowser.net/ontologies/mesh/mesh.owl#C566300 | RH-MESH | LOOM | |
| http://purl.bioontology.org/ontology/MESH/C566300 | MESH | LOOM |