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loading...| Preferred Name |
ANENCEPHALY 1 |
| Synonyms |
ANPH |
| ID |
http://purl.bioontology.org/ontology/OMIM/206500 |
| altLabel |
ANPH ANPH1 |
| cui |
C5561928 C0002902 |
| Gene Locus |
5q22.3 |
| Gene Symbol |
TRIM36 RBCC728 ANPH1 |
| Has manifestation |
http://purl.bioontology.org/ontology/OMIM/MTHU011716 |
| MIMTYPEMEANING |
Phenotype description, molecular basis known. |
| notation |
206500 |
| OMIM Entry Type |
3 |
| OMIM MimType Value |
pound |
| prefLabel |
ANENCEPHALY 1 |
| Scope Statement |
Onset in utero [MISCELLANEOUS] Death in utero or perinatally [MISCELLANEOUS] 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] |
| tui |
T019 |
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