FNS-Harmony

Last uploaded: November 2, 2023

Preferred Name	Boucher-Neuhauser syndrome
Synonyms
Definitions	A syndrome characterized by spinocerebellar ataxia, hypogonadotropic hypogonadism, and chorioretinal dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in PNPLA6 on 19p13.2.
ID	http://purl.obolibrary.org/obo/DOID_0111265
definition	A syndrome characterized by spinocerebellar ataxia, hypogonadotropic hypogonadism, and chorioretinal dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in PNPLA6 on 19p13.2.
imported from	http://purl.obolibrary.org/obo/doid.owl
label	Boucher-Neuhauser syndrome
prefixIRI	DOID:0111265
prefLabel	Boucher-Neuhauser syndrome
subClassOf	http://purl.obolibrary.org/obo/DOID_0050737 http://purl.obolibrary.org/obo/DOID_225

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Mapping To	Ontology	Source
http://purl.obolibrary.org/obo/DOID_0111265	DOID	SAME_URI
http://purl.obolibrary.org/obo/DOID_0111265	HHEAR	SAME_URI
http://purl.obolibrary.org/obo/DOID_0111265	NIFSTD	SAME_URI
http://purl.obolibrary.org/obo/DOID_0111265	DOID	SAME_URI
http://purl.obolibrary.org/obo/DOID_0111265	DOID	LOOM
http://purl.obolibrary.org/obo/DOID_0111265	DOID	LOOM
http://purl.bioontology.org/ontology/OMIM/215470	OMIM	LOOM
http://identifiers.org/omim/215470	REXO	LOOM
http://identifiers.org/omim/215470	GEXO	LOOM
http://identifiers.org/omim/215470	RETO	LOOM
http://purl.obolibrary.org/obo/DOID_0111265	HHEAR	LOOM
http://purl.obolibrary.org/obo/DOID_0111265	NIFSTD	LOOM