Scheuermann's disease - Ontology Report

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:	Scheuermann's disease	go back to main search page
Accession:	DOID:13300	browse the term
Definition:	An osteochondrosis that results_in abnormal bone growth and curvature located_in thoracic vertebral column. (DO)
Synonyms:	exact_synonym:	Adolescent Kyphosis; Juvenile Kyphosis; Juvenile Osteochondrosis of Spine; Scheuermann Juvenile Kyphosis; Scheuermann Kyphoses; Scheuermann Kyphosis; Scheuermann disease; Scheuermann juvenile kyphoses; Scheuermann's kyphoses; Scheuermann's kyphosis; Scheuermanns Disease; Scheuermanns kyphosis; Sherman's disease; adolescent kyphoses; juvenile kyphoses; juvenile osteochondritis of the spine; juvenile osteochondrosis of Scheurermann; spine juvenile osteochondroses; spine juvenile osteochondrosis
	primary_id:	MESH:D012544
	alt_id:	OMIM:181440
	xref:	GARD:7610; ICD10CM:M42.0; ICD10CM:M42.00; ICD9CM:732.0; NCI:C34999
For additional species annotation, visit the Alliance of Genome Resources.

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Genes (2)

Scheuermann's disease

Symbol

Object Name

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

Clec3b

C-type lectin domain family 3, member B

ISS

OMIM:181440

MouseDO

NCBI chr 8:122,810,120...122,815,837
Ensembl chr 8:122,810,149...122,815,835

Nfix

nuclear factor I X

ISS

OMIM:181440

MouseDO

NCBI chr19:23,355,388...23,450,360
Ensembl chr19:23,355,498...23,448,265

Term paths to the root

Path 1
Term	Annotations
disease	18969
disease of anatomical entity	18249
musculoskeletal system disease	8306
bone disease	4302
osteochondrosis	6
Spinal Osteochondrosis	2
Scheuermann's disease	2
Path 2
Term	Annotations
disease	18969
disease of anatomical entity	18249
musculoskeletal system disease	8306
connective tissue disease	5787
bone disease	4302
spinal disease	1135
Spinal Curvatures	83
kyphosis	27
Scheuermann's disease	2

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RGD DISEASE ONTOLOGY - ANNOTATIONS