Jump to:
Spinner 000000 16px loading...
Preferred Name

SPERMATOGENIC FAILURE 40
Synonyms

SPGF40
ID

http://purl.bioontology.org/ontology/OMIM/618664
altLabel

SPGF40
cui

C5231451
Gene Locus

2q35
Gene Symbol

SPGF40

CCDC108

CFAP65
Has manifestation

http://purl.bioontology.org/ontology/OMIM/MTHU066645

http://purl.bioontology.org/ontology/OMIM/MTHU066475

http://purl.bioontology.org/ontology/OMIM/MTHU061098

http://purl.bioontology.org/ontology/OMIM/MTHU066647

http://purl.bioontology.org/ontology/OMIM/MTHU066641

http://purl.bioontology.org/ontology/OMIM/MTHU062330

http://purl.bioontology.org/ontology/OMIM/MTHU006969

http://purl.bioontology.org/ontology/OMIM/MTHU070785

http://purl.bioontology.org/ontology/OMIM/MTHU012040

http://purl.bioontology.org/ontology/OMIM/MTHU066648

http://purl.bioontology.org/ontology/OMIM/MTHU066638

http://purl.bioontology.org/ontology/OMIM/MTHU061097

http://purl.bioontology.org/ontology/OMIM/MTHU056414

http://purl.bioontology.org/ontology/OMIM/MTHU066640

http://purl.bioontology.org/ontology/OMIM/MTHU066646

http://purl.bioontology.org/ontology/OMIM/MTHU064775

http://purl.bioontology.org/ontology/OMIM/MTHU070784

http://purl.bioontology.org/ontology/OMIM/MTHU066639
MIMTYPEMEANING

Phenotype description, molecular basis known.
notation

618664
OMIM Entry Type

3
OMIM MimType Value

pound
prefLabel

SPERMATOGENIC FAILURE 40
Scope Statement

Rare patients report symptoms consistent with primary ciliary dyskinesia (PCD), but a definitive diagnosis of PCD has not been confirmed in patients with CFAP65-associated infertility [MISCELLANEOUS]

Caused by mutation in the cilia- and flagella-associated protein-65 gene (CFAP65, 614270.0001) [MOLECULAR BASIS]
tui

T047
Add comment
Add proposal
Delete Subject Author Type Created
No notes to display
Create New Mapping

Delete Mapping To Ontology Source
http://purl.obolibrary.org/obo/DOID_0111918 Human Disease Ontology / 人类疾病本体 LOOM
http://purl.obolibrary.org/obo/MONDO_0032859 Mondo Disease Ontology / Mondo疾病本体 LOOM