National Drug File - Reference Terminology - Acrocallosal Syndrome [Disease/Finding] - Classes

Last uploaded: July 6, 2018

Preferred Name	Acrocallosal Syndrome [Disease/Finding]
Synonyms	Acrocallosal Syndrome
ID	http://purl.bioontology.org/ontology/NDFRT/N0000181177
altLabel	Acrocallosal Syndrome Hallux Duplication, Postaxial Polydactyly, and Absence of Corpus Callosum
cui	C0796147
MESH DEFINITION	Autosomal recessive syndrome characterized by hypogenesis or agenesis of CORPUS CALLOSUM. Clinical features include MENTAL RETARDATION; CRANIOFACIAL ABNORMALITIES; digital malformations, and growth retardation.
MESH DUI	D055673
MeSH name	Acrocallosal Syndrome
MESH UI	M0519414
NDFRT kind	DISEASE_KIND
notation	N0000181177
NUI	N0000181177
prefLabel	Acrocallosal Syndrome [Disease/Finding]
tui	T047
subClassOf	http://purl.bioontology.org/ontology/NDFRT/N0000183381

Delete	Subject	Author	Type	Created
No notes to display

Mapping To	Ontology	Source
http://purl.bioontology.org/ontology/MSHFRE/D055673	MSHFRE	CUI
http://purl.bioontology.org/ontology/MDRFRE/10083865	MDRFRE	CUI
http://purl.bioontology.org/ontology/MESH/D055673	MESH	CUI
http://purl.bioontology.org/ontology/OMIM/611254	OMIM	CUI
http://purl.bioontology.org/ontology/MDRGER/10083865	MDRGER	CUI
http://purl.bioontology.org/ontology/MEDDRA/10083865	MEDDRA	CUI
http://purl.bioontology.org/ontology/OMIM/200990	OMIM	CUI
http://purl.bioontology.org/ontology/SCTSPA/715951007	SCTSPA	CUI
http://purl.bioontology.org/ontology/SNOMEDCT/715951007	SNOMEDCT	CUI