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loading...| Preferred Name |
ANENCEPHALY 1 |
|
| Synonyms |
ANPH |
|
| ID |
http://purl.bioontology.org/ontology/OMIM/206500 |
|
| altLabel |
ANPH ANPH1 |
|
| cui |
C0002902 C5561928 |
|
| Gene Locus |
5q22.3 |
|
| Gene Symbol |
ANPH1 RBCC728 TRIM36 |
|
| Has manifestation |
http://purl.bioontology.org/ontology/OMIM/MTHU058304 |
|
| MIMTYPEMEANING |
Phenotype description, molecular basis known. |
|
| notation |
206500 |
|
| OMIM Entry Type |
3 |
|
| OMIM MimType Value |
pound |
|
| prefLabel |
ANENCEPHALY 1 |
|
| Scope Statement |
One patient with a confirmed TRIM36 mutation has been reported (last curated July 2017) [MISCELLANEOUS] Caused by mutation in the tripartite motif-containing protein 36 gene (TRIM36, 609317.0001) [MOLECULAR BASIS] Onset in utero [MISCELLANEOUS] Death in utero or perinatally [MISCELLANEOUS] |
|
| tui |
T019 |
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