About: congenital bilateral aplasia of the vas deferens

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About: congenital bilateral aplasia of the vas deferens Goto Sponge NotDistinct Permalink

An Entity of Type : wikibase:Item, within Data Space : wikidata.demo.openlinksw.com associated with source document(s)

human disease

Attributes	Values
rdf:type	Item
description	human disease (en) хвороба людини (uk)
exact match	wds:Q53923559-91279AC6-B52C-44AF-8EF1-1107582CED4E wds:Q53923559-BDDE7877-A113-47AF-85D7-148AE50C3AA2 wds:Q53923559-D585F757-08EB-4A76-B6BB-8B8F37F1544B
exact match	http://purl.obolibrary.org/obo/DOID_0111862 http://identifiers.org/doid/DOID:0111862 http://www.orpha.net/ORDO/Orphanet_48
Mondo ID	wds:Q53923559-D93ABF5A-76A8-424D-8BC8-BC93FBD53D07
Disease Ontology ID	wds:Q53923559-5BC2B841-7360-486B-A432-DFA9B3C19BF9
Mondo ID	http://purl.obolibrary.org/obo/MONDO_0010178
Disease Ontology ID	http://purl.obolibrary.org/obo/DOID_DOID:0111862
Mondo ID	MONDO_0010178
Disease Ontology ID	DOID:0111862
rdfs:label	Kongenitale bilaterale Aplasie des Vas deferens (de) Wrodzony brak nasieniowodów (pl) congenital bilateral aplasia of the vas deferens (en) aplasie congénitale bilatérale des canaux déférents (fr) Ausencia bilateral congénita de conductos deferentes (es)
skos:prefLabel	Kongenitale bilaterale Aplasie des Vas deferens (de) Wrodzony brak nasieniowodów (pl) congenital bilateral aplasia of the vas deferens (en) aplasie congénitale bilatérale des canaux déférents (fr) Ausencia bilateral congénita de conductos deferentes (es)
name	Kongenitale bilaterale Aplasie des Vas deferens (de) Wrodzony brak nasieniowodów (pl) congenital bilateral aplasia of the vas deferens (en) aplasie congénitale bilatérale des canaux déférents (fr) Ausencia bilateral congénita de conductos deferentes (es)
instance of	wds:Q53923559-04922B0A-D39B-49BD-87D6-71114E12B0D2 wds:Q53923559-213D3998-0952-46DB-BA5B-7398B0C65CC4 wds:Q53923559-E7D66682-386C-4D77-BC4B-6DF11736601F
instance of	class of disease rare disease developmental defect during embryogenesis
subclass of	wds:Q53923559-4BE9C9FF-B0B7-4E33-8753-21DB3D7B6BA1 wds:Q53923559-77a64116-4eec-84c3-7b85-4229779f1b6b wds:Q53923559-9A68298F-C316-4D10-95BB-40057B73A121
subclass of	azoospermia congenital aplasia of the vas deferens X-linked disease
Google Knowledge Graph ID	wds:Q53923559-32F21AF7-0FD6-413B-ABD1-BA56A51D64EA
KEGG ID	wds:Q53923559-2AC9A012-5435-48A3-8EF7-1B0361D1E3DC
Google Knowledge Graph ID	http://g.co/kg/g/11bc5vzl4r
KEGG ID	http://www.kegg.jp/entry/H01033
Google Knowledge Graph ID	/g/11bc5vzl4r
KEGG ID	H01033
UniProt disease ID	wds:Q53923559-15f621df-40f3-2ee1-eaf2-aa13518adcbc
genetic association	wds:Q53923559-6CFE275C-E3FA-4B44-9924-A63E304B59AF
GARD rare disease ID	wds:Q53923559-93c24e40-4974-c0bb-2ac5-63cb341ea5a6
OMIM ID	wds:Q53923559-6f8629ef-4f0e-df2b-be1c-67b75eb3d5f4
UniProt disease ID	DI-01389
genetic association	CFTR
GARD rare disease ID	5461
OMIM ID	277180
skos:altLabel	ABCD (fr) CBAVD (en) Cavd (en) Congenital Bilateral Aplasia of the Vas Deferens (en) VAS DEFERENS, CONGENITAL BILATERAL APLASIA OF (en) congenital bilateral absence of the vas deferens (en) congenital bilateral absence of vas deferens (en) VAS DEFERENS, CONGENITAL BILATERAL APLASIA OF; CBAVD (en)
NCI Thesaurus ID	wds:Q53923559-2e0b84bf-4f25-ffc9-5338-03a86cec1101
UMLS CUI	wds:Q53923559-693BFBBD-10D2-4F0F-BF29-2ABF5EF213CA
MeSH descriptor ID	wds:Q53923559-9e4ed546-400c-29c6-cfa5-dc870a3fb114
MeSH descriptor ID	http://id.nlm.nih.gov/mesh/C535984
NCI Thesaurus ID	C129303
UMLS CUI	C0403814
MeSH descriptor ID	C535984
is owl:sameAs of	congenital bilateral aplasia of the vas deferens
is about of	https://pl.wikipedia.org/wiki/Wrodzony_brak_nasieniowod%C3%B3w https://www.wikidata.org/wiki/Special:EntityData/Q53923559 https://de.wikipedia.org/wiki/Kongenitale_bilaterale_Aplasie_des_Vas_deferens https://es.wikipedia.org/wiki/Ausencia_bilateral_cong%C3%A9nita_de_conductos_deferentes
is subclass of of	X-linked congenital bilateral absence of vas deferens autosomal recessive congenital bilateral absence of vas deferens
is subclass of of	wds:Q102293922-E0AA58C0-2850-47DA-8747-2E873051EEB7 wds:Q102296714-6B829EAF-AA32-464C-95D7-D534837F78BE
is main subject of	Nasal potential difference in congenital bilateral absence of the vas deferens A novel splice site mutation in the first exon of the cystic fibrosis transmembrane regulator (CFTR) gene identified in a CBAVD patient Pulmonary Function and Clinical Observations in Men With Congenital Bilateral Absence of the Vas Deferens The complex relationships between cystic fibrosis and congenital bilateral absence of the vas deferens: clinical, electrophysiological and genetic data The genetic basis of congenital bilateral absence of the vas deferens and cystic fibrosis Cystic fibrosis and infertility caused by congenital bilateral absence of the vas deferens and related clinical entities Nasal epithelial ion transport and genetic analysis of infertile men with congenital bilateral absence of the vas deferens Molecular diagnosis of congenital bilateral absence of the vas deferens: analyses of the CFTR gene in 64 French patients Congenital bilateral absence of vas deferens in the absence of cystic fibrosis Unilateral renal agenesis associated with congenital bilateral absence of the vas deferens: phenotypic findings and genetic considerations Detection of cystic fibrosis transmembrane conductance regulator (CFTR) gene rearrangements enriches the mutation spectrum in congenital bilateral absence of the vas deferens and impacts on genetic counselling Frequent occurrence of the CFTR intron 8 (TG)n 5T allele in men with congenital bilateral absence of the vas deferens CFTR p.Arg117His associated with CBAVD and other CFTR-related disorders CFTR mutations in men with congenital bilateral absence of the vas deferens (CBAVD): a systemic review and meta-analysis Congenital bilateral absence of the vas deferens (CBAVD) and cystic fibrosis transmembrane regulator (CFTR): correlation between genotype and phenotype Comprehensive and rapid genotyping of mutations and haplotypes in congenital bilateral absence of the vas deferens and other cystic fibrosis transmembrane conductance regulator-related disorders A T3 allele in the CFTR gene exacerbates exon 9 skipping in vas deferens and epididymal cell lines and is associated with Congenital Bilateral Absence of Vas Deferens (CBAVD). Cystic fibrosis phenotype evaluation and paternity outcome in 50 males with congenital bilateral absence of vas deferens Cystic fibrosis mutation screening in CBAVD patients and men with obstructive azoospermia or severe oligozoospermia Cystic fibrosis transmembrane conductance regulator gene screening and clinical correlation in Taiwanese males with congenital bilateral absence of the vas deferens

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