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chondrodysplasia Blomstrand type

^ http://purl.obolibrary.org/obo/MONDO_0008970

Blomstrand lethal chondrodysplasia (BLC) is a neonatal osteosclerotic dysplasia characterized by advanced endochondral bone maturation, very short limbs, dwarfism and prenatal lethality. [ Orphanet:50945 ]

Term info

database cross reference
  • GARD:0000914 (MONDO:equivalentTo)
  • DOID:0060387 (MONDO:equivalentTo)
  • UMLS:C1859148 (Orphanet:50945/e)
  • MESH:C537914 (Orphanet:50945/e)
  • Orphanet:50945 (OMIM:215045)
  • OMIM:215045 (Orphanet:50945/e)
  • NCIT:C131420 (MONDO:equivalentTo)
Subsets

gard_rare, ordo_malformation_syndrome

abbreviation
BOCD [ MONDO:Lexical Orphanet:50945 OMIM:215045 ]

abbreviation
BLC [ Orphanet:50945 ]

IAO 0000233

https://github.com/monarch-initiative/mondo/issues/4948

definition

Blomstrand lethal chondrodysplasia (BLC) is a neonatal osteosclerotic dysplasia characterized by advanced endochondral bone maturation, very short limbs, dwarfism and prenatal lethality.

exactMatch

http://linkedlifedata.com/resource/umls/id/C1859148, http://identifiers.org/mesh/C537914, http://purl.obolibrary.org/obo/NCIT_C131420, http://purl.obolibrary.org/obo/Orphanet_50945, https://omim.org/entry/215045, http://purl.obolibrary.org/obo/DOID_0060387

has exact synonym

BOCD, Blomstrand lethal chondrodysplasia, Blomstrand chondrodysplasia, chondrodysplasia, Blomstrand type, Blomstrand osteochondrodysplasia, Blomstrand type chondrodysplasia, BLC

has related synonym

Blomstrand's lethal chondrodysplasia, Blomstrand lethal osteochondrodysplasia

id

MONDO:0008970

seeAlso

https://rarediseases.info.nih.gov/diseases/914/chondrodysplasia-blomstrand-type

Term relations