Schmid metaphyseal chondrodysplasia - 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:	Schmid metaphyseal chondrodysplasia	go back to main search page
Accession:	DOID:0080021	browse the term
Definition:	A metaphyseal dysplasia that results_in dwarfism and bowed legs. (DO)
Synonyms:	exact_synonym:	COL10A1-RELATED CONDITION; Japanese type spondylometaphyseal dysplasia; MCDS; Schmid type metaphyseal dysplasia; dwarfism, Schmid metaphyseal chondrodysplasia
	primary_id:	MESH:C537352
	alt_id:	OMIA:001718; OMIM:156500
	xref:	GARD:7029

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Genes (2)

Schmid metaphyseal chondrodysplasia

Symbol

Object Name

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

Col10a1

collagen type X alpha 1 chain

ISO
ISS

CTD Direct Evidence: marker/mechanism
OMIM:156500
ClinVar Annotator: match by term: COL10A1-related condition | ClinVar Annotator: match by term: SPONDYLOMETAPHYSEAL DYSPLASIA, JAPANESE TYPE

OMIM
CTD
MouseDO
ClinVar

PMID:7607655 PMID:7749409 PMID:7936797 PMID:8004099 PMID:8012364 More...

NCBI chr20:38,183,103...38,189,488
Ensembl chr20:38,182,494...38,189,494

Nt5dc1

5'-nucleotidase domain containing 1

ISO

ClinVar Annotator: match by term: COL10A1-related condition | ClinVar Annotator: match by term: SPONDYLOMETAPHYSEAL DYSPLASIA, JAPANESE TYPE

ClinVar

PMID:7607655 PMID:7749409 PMID:7936797 PMID:8004099 PMID:8012364 More...

NCBI chr20:38,105,677...38,208,613
Ensembl chr20:38,105,678...38,208,591

Term paths to the root

Path 1
Term	Annotations
disease	18976
Developmental Disease	14397
bone development disease	2307
osteochondrodysplasia	861
Metaphyseal Chondrodysplasia	7
Schmid metaphyseal chondrodysplasia	2
Path 2
Term	Annotations
disease	18976
disease of anatomical entity	18260
musculoskeletal system disease	8304
connective tissue disease	5786
bone disease	4302
bone development disease	2307
osteochondrodysplasia	861
Metaphyseal Chondrodysplasia	7
Schmid metaphyseal chondrodysplasia	2

Gene Annotator (Functional Annotation) unavailable	Gene Annotator (Annotation Distribution) unavailable	Variant Visualizer (Genomic Variants) unavailble Variant Visualizer (Genomic Variants) unavailable
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InterViewer (Protein-Protein Interactions) unavailable	Gviewer (Genome Viewer) unavailable	Variant Visualizer (Damaging Variants) unavailble Variant Visualizer (Damaging Variants) unavailable
InterViewer (Protein-Protein Interactions)	GViewer (Genome Viewer)	Variant Visualizer (Damaging Variants)

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RGD DISEASE ONTOLOGY - ANNOTATIONS