Online Mendelian Inheritance in Man

Last uploaded: January 31, 2024

Preferred Name	Alpha-L-fucosidase deficiency
Synonyms
ID	http://purl.bioontology.org/ontology/OMIM/MTHU012937
cui	C0016788
Manifestation of	http://purl.bioontology.org/ontology/OMIM/230000
notation	MTHU012937
prefLabel	Alpha-L-fucosidase deficiency
tui	T047
subClassOf	http://purl.bioontology.org/ontology/OMIM/MTHU000012

Delete	Subject	Author	Type	Created
No notes to display

Mapping To	Ontology	Source
http://purl.bioontology.org/ontology/NDFRT/N0000001296	NDFRT	CUI
http://purl.bioontology.org/ontology/RCD/C31y1	RCD	CUI
http://purl.bioontology.org/ontology/SCTSPA/64716005	SCTSPA	CUI
http://purl.bioontology.org/ontology/SNMI/D6-72300	SNMI	CUI
http://purl.bioontology.org/ontology/SNOMEDCT/64716005	SNOMEDCT	CUI
http://purl.bioontology.org/ontology/ICD10CM/E77.1	ICD10CM	CUI
http://purl.bioontology.org/ontology/CSP/1849-8519	CRISP	CUI
http://purl.bioontology.org/ontology/MSHFRE/D005645	MSHFRE	CUI
http://purl.bioontology.org/ontology/MESH/D005645	MESH	CUI