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Silverman-Handmaker type dyssegmental dysplasia

Go to external page http://purl.obolibrary.org/obo/MONDO_0009140

Dyssegmental dysplasia, Silverman-Handmaker type is a rare, genetic, primary bone dysplasia, and lethal form of neonatal short-limbed dwarfism, characterized by anisospondyly, severe short stature and limb shortening, metaphyseal flaring and distinct dysmorphic features (i.e. flat facial appearance, abnormal ears, short neck, narrow thorax). Additional features may include other skeletal findings (e.g. joint contractures, bowed limbs, talipes equinovarus) and urogenital and cardiovascular abnormalities. [ Orphanet:1865 ]

Synonyms: Silverman-Handmaker type dyssegmental dysplasia

This is just here as a test because I lose it

Term information

database cross reference
  • OMIM:224410 (Orphanet:1865/e)
  • Orphanet:1865 (OMIM:224410)
  • GARD:2026 (Orphanet:1865)
  • SCTID:93132001 (MONDO:equivalentTo)
  • MESH:C537998 (MONDO:equivalentTo)
  • DOID:0090032 (MONDO:equivalentTo)
  • ICD9:759.89 (MONDO:relatedTo)
Subsets

gard_rare, ordo_disease, rare, nord_rare, orphanet_rare, clingen

IAO 0000233

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

exactMatch

http://purl.obolibrary.org/obo/DOID_0090032

http://www.orpha.net/ORDO/Orphanet_1865

http://identifiers.org/mesh/C537998

https://omim.org/entry/224410

http://identifiers.org/snomedct/93132001

has related synonym

Anisospondylic camptomicromelic dwarfism Silverman-Handmaker type

DDSH

Anisospondylic Camptomicromelic dwarfism, Silverman-Handmaker type

dyssegmental dysplasia, Silverman-Handmaker type

dyssegmental dwarfism Silverman-Handmaker type

dyssegmental dysplasia Silverman-Handmaker type

dyssegmental dwarfism, Silverman-Handmaker type

id

MONDO:0009140

seeAlso

https://rarediseases.info.nih.gov/diseases/2026/dyssegmental-dysplasia-silverman-handmaker-type

https://search.clinicalgenome.org/kb/conditions/MONDO:0009140