Boucher-Neuhauser syndrome - Ontology Report

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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.

Term:	Boucher-Neuhauser syndrome	go back to main search page
Accession:	DOID:0111265	browse the term
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. (DO)
Synonyms:	exact_synonym:	BNHS; ataxia-hypogonadism-choroidal dystrophy syndrome; chorioretinal dystrophy, spinocerebellar ataxia, and hypogonadotropic hypogonadism
	primary_id:	MESH:C565850
	alt_id:	MIM:215470
	xref:	GARD:944; ORDO:1180

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Genes (2)

Boucher-Neuhauser syndrome

Symbol

Object Name

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

Mcoln1

mucolipin TRP cation channel 1

ISO

ClinVar Annotator: match by term: Ataxia-hypogonadism-choroidal dystrophy syndrome

ClinVar

PMID:25741868 PMID:26467025 PMID:28492532

NCBI chr12:1,560,341...1,574,252
Ensembl chr12:1,560,359...1,574,252

Pnpla6

patatin-like phospholipase domain containing 6

ISO

CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Ataxia-hypogonadism-choroidal dystrophy syndrome | ClinVar Annotator: match by term: Chorioretinal dystrophy, spinocerebellar ataxia and hypogonadotropic hypogonadism

OMIM
CTD
ClinVar

PMID:3963113 PMID:8053762 PMID:9321767 PMID:16199547 PMID:18313024 More...

NCBI chr12:1,574,387...1,603,735
Ensembl chr12:1,560,363...1,603,734

Term paths to the root

Path 1
Term	Annotations
disease	19099
syndrome	11271
Boucher-Neuhauser syndrome	2
Path 2
Term	Annotations
disease	19099
disease of anatomical entity	18440
nervous system disease	14334
Neurologic Manifestations	10420
sensory system disease	7331
eye disease	3696
retinal disease	1401
retinal degeneration	854
fundus dystrophy	703
Boucher-Neuhauser syndrome	2

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RGD DISEASE ONTOLOGY - ANNOTATIONS