Human Disease Ontology / 人类疾病本体

Last uploaded: September 7, 2023
Preferred Name

spermatogenic failure 40

Synonyms

SPGF40

Definitions

A spermatogenic failure characterized by multiple morphologic abnormalities of the flagella resulting in severely reduced to absent sperm motility and abnormalities of the sperm head that has_material_basis_in homozygous or compound heterozygous mutation in the CFAP65 gene on chromosome 2q35.

ID

http://purl.obolibrary.org/obo/DOID_0111918

database_cross_reference

OMIM:618664

definition

A spermatogenic failure characterized by multiple morphologic abnormalities of the flagella resulting in severely reduced to absent sperm motility and abnormalities of the sperm head that has_material_basis_in homozygous or compound heterozygous mutation in the CFAP65 gene on chromosome 2q35.

has exact synonym

SPGF40

has material basis in

http://purl.obolibrary.org/obo/GENO_0000148

has_obo_namespace

disease_ontology

id

DOID:0111918

label

spermatogenic failure 40

notation

DOID:0111918

prefLabel

spermatogenic failure 40

subClassOf

http://purl.obolibrary.org/obo/DOID_0050737

http://purl.obolibrary.org/obo/DOID_0111910

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http://purl.bioontology.org/ontology/OMIM/618664 Online Mendelian Inheritance in Man / 在线人类孟德尔遗传数据库 LOOM
http://purl.obolibrary.org/obo/MONDO_0032859 Mondo Disease Ontology / Mondo疾病本体 LOOM