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loading...| Preferred Name |
SPERMATOGENIC FAILURE 41 |
| Synonyms |
SPGF41 |
| ID |
http://purl.bioontology.org/ontology/OMIM/618670 |
| altLabel |
SPGF41 |
| cui |
C5231455 |
| Gene Locus |
10q22.2 |
| Gene Symbol |
CFAP70 SPGF41 TTC18 |
| Has manifestation |
http://purl.bioontology.org/ontology/OMIM/MTHU061096 http://purl.bioontology.org/ontology/OMIM/MTHU061100 http://purl.bioontology.org/ontology/OMIM/MTHU005257 |
| MIMTYPEMEANING |
Phenotype description, molecular basis known. |
| notation |
618670 |
| OMIM Entry Type |
3 |
| OMIM MimType Value |
pound |
| prefLabel |
SPERMATOGENIC FAILURE 41 |
| Scope Statement |
Caused by mutation in the cilia- and flagella-associated protein-70 gene (CFAP70, 618661.0001) [MOLECULAR BASIS] Intracytoplasmic sperm injection may result in successful pregnancy [MISCELLANEOUS] Based on report of 1 patient with a splice site mutation (last curated November 2019) [MISCELLANEOUS] |
| tui |
T047 |
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| Delete | Mapping To | Ontology | Source |
|---|---|---|---|
| http://purl.obolibrary.org/obo/MONDO_0032863 | Mondo Disease Ontology / Mondo疾病本体 | LOOM | |
| http://purl.obolibrary.org/obo/DOID_0111912 | Human Disease Ontology / 人类疾病本体 | LOOM |