chondrodysplasia Blomstrand type - 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:	chondrodysplasia Blomstrand type	go back to main search page
Accession:	DOID:0060387	browse the term
Definition:	An osteochondrodysplasia that is characterized by rapid endochondral bone maturation, short limbs, dwarfism and prenatal lethality, has_material_basis_in autosomal recessive inheritance of mutation in the PTH1R gene. (DO)
Synonyms:	exact_synonym:	BOCD; Blomstrand lethal chondrodysplasia; Blomstrand lethal osteochondrodysplasia; Blomstrand osteochondrodysplasia; Blomstrand syndrome; lethal congenital dwarfism with accelerated skeletal maturation
	primary_id:	MESH:C537914
	alt_id:	OMIM:215045
	xref:	GARD:914; NCI:C131420; ORDO:50945

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Genes (2)

chondrodysplasia Blomstrand type

Symbol

Object Name

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

Myl3

myosin, light polypeptide 3

ISO

ClinVar Annotator: match by term: Chondrodysplasia Blomstrand type

ClinVar

NCBI chr 9:110,592,746...110,598,870
Ensembl chr 9:110,570,929...110,598,866

Pth1r

parathyroid hormone 1 receptor

ISO

ClinVar Annotator: match by term: Blomstrand lethal osteochondrodysplasia | ClinVar Annotator: match by term: Chondrodysplasia Blomstrand type
CTD Direct Evidence: marker/mechanism

OMIM
ClinVar
CTD

PMID:3975110 PMID:9268097 PMID:9536098 PMID:9649554 PMID:9745456 More...

NCBI chr 9:110,551,132...110,576,213
Ensembl chr 9:110,551,153...110,576,213

Term paths to the root

Path 1
Term	Annotations
disease	16109
Developmental Disease	13808
bone development disease	2300
osteochondrodysplasia	865
chondrodysplasia Blomstrand type	2
Path 2
Term	Annotations
disease	16109
disease of anatomical entity	15665
musculoskeletal system disease	7969
connective tissue disease	5423
bone disease	3932
bone development disease	2300
osteochondrodysplasia	865
Osteochondroma	27
Osteochondromatosis	26
hereditary multiple exostoses	26
chondrodysplasia Blomstrand type	2

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RGD DISEASE ONTOLOGY - ANNOTATIONS