Human Disease Ontology

Last uploaded: September 28, 2024

Preferred Name	Boucher-Neuhauser syndrome
Synonyms	ataxia-hypogonadism-choroidal dystrophy syndrome
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
database_cross_reference	UMLS_CUI:C1859093 SNOMEDCT_US_2023_03_01:715984007 ORDO:1180 MIM:215470 MESH:C565850 GARD:944
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.
has material basis in	http://purl.obolibrary.org/obo/GENO_0000148
has_exact_synonym	ataxia-hypogonadism-choroidal dystrophy syndrome
has_obo_namespace	disease_ontology
id	DOID:0111265
in_subset	http://purl.obolibrary.org/obo/doid#DO_rare_slim
label	Boucher-Neuhauser syndrome
notation	DOID:0111265
prefLabel	Boucher-Neuhauser syndrome
subClassOf	http://purl.obolibrary.org/obo/DOID_225 http://purl.obolibrary.org/obo/DOID_0050737

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Mapping To	Ontology	Source
http://purl.obolibrary.org/obo/DOID_0111265	HHEAR	SAME_URI
http://purl.obolibrary.org/obo/DOID_0111265	DDSS	SAME_URI
http://purl.obolibrary.org/obo/DOID_0111265	NIFSTD	SAME_URI
http://purl.obolibrary.org/obo/DOID_0111265	FNS-H	SAME_URI
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	DDSS	LOOM
http://purl.obolibrary.org/obo/DOID_0111265	NIFSTD	LOOM
http://purl.obolibrary.org/obo/DOID_0111265	FNS-H	LOOM