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kyphomelic dysplasia

^ http://purl.obolibrary.org/obo/MONDO_0008881

Kyphomelic dysplasia is a prenatal skeletal disease that causes dwarfism characterized bythe following: a disproportionately short stature with a short narrow chest,shortening and bending (bowing)of the limbs, flared irregular metaphyses of the bones, and characteristicfacial features.Bone changes are said to improve with age.Kyphomelic dysplasia is inherited in an autosomal recessive pattern. Recent studies indicate that Kyphomelic dysplasia is no longerconsidered it's ownentity and that individual cases should be further evaluated andre-classified as another existing chondrodysplasias, such as Schwartz-Jampel syndrome. [ https://rarediseases.info.nih.gov/diseases/10149/kyphomelic-dysplasia ]

Term info

database cross reference
  • OMIM:211350 (Orphanet:1801/e)
  • ICD9:733.29 (MONDO:relatedTo)
  • SCTID:254096001 (MONDO:equivalentTo)
  • Orphanet:1801 (OMIM:211350)
  • UMLS:C0432239 (Orphanet:1801/e)
  • MESH:C538128 (Orphanet:1801/e)
  • GARD:0010149 (MONDO:equivalentTo)
Subsets

gard_rare, ordo_malformation_syndrome

IAO 0000233

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

definition

Kyphomelic dysplasia is a prenatal skeletal disease that causes dwarfism characterized bythe following: a disproportionately short stature with a short narrow chest,shortening and bending (bowing)of the limbs, flared irregular metaphyses of the bones, and characteristicfacial features.Bone changes are said to improve with age.Kyphomelic dysplasia is inherited in an autosomal recessive pattern. Recent studies indicate that Kyphomelic dysplasia is no longerconsidered it's ownentity and that individual cases should be further evaluated andre-classified as another existing chondrodysplasias, such as Schwartz-Jampel syndrome.

exactMatch

http://purl.obolibrary.org/obo/Orphanet_1801, http://identifiers.org/snomedct/254096001, https://omim.org/entry/211350, http://identifiers.org/mesh/C538128, http://linkedlifedata.com/resource/umls/id/C0432239

has exact synonym

kyphomelic dysplasia

has related synonym

congenital bowing with short bones, bowing, congenital, with short bones

id

MONDO:0008881

seeAlso

https://rarediseases.info.nih.gov/diseases/10149/kyphomelic-dysplasia

Term relations

Subclass of: