JSON

radial hypoplasia-triphalangeal thumbs-hypospadias-maxillary diastema syndrome

^ http://purl.obolibrary.org/obo/MONDO_0008357

A syndrome is characterised by symmetric, nonopposable triphalangeal thumbs and radial hypoplasia. It has been described in eight patients (five females and three males) spanning generations of a family. The affected males also presented with hypospadias. The syndrome is inherited as an autosomal dominant trait. [ Orphanet:2252 https://orcid.org/0000-0001-5208-3432 ]

Term info

database cross reference
  • GARD:0000258 (MONDO:equivalentTo)
  • OMIM:179250 (Orphanet:2252/e)
  • Orphanet:2252 (OMIM:179250)
  • MESH:C536262 (MONDO:equivalentTo)
  • SCTID:716092007 (MONDO:equivalentTo)
  • GARD:0004626 (MONDO:equivalentTo)
Subsets

gard_rare, ordo_malformation_syndrome

IAO 0000233

https://github.com/monarch-initiative/mondo/issues/5204

definition

A syndrome is characterised by symmetric, nonopposable triphalangeal thumbs and radial hypoplasia. It has been described in eight patients (five females and three males) spanning generations of a family. The affected males also presented with hypospadias. The syndrome is inherited as an autosomal dominant trait.

exactMatch

https://omim.org/entry/179250, http://identifiers.org/snomedct/716092007, http://identifiers.org/mesh/C536262, http://purl.obolibrary.org/obo/Orphanet_2252

excluded subClassOf

http://purl.obolibrary.org/obo/MONDO_0015620

has exact synonym

radial hypoplasia triphalangeal thumbs hypospadias maxillary diastema, Schmitt Gillenwater Kelly syndrome, radial hypoplasia, triphalangeal thumbs, hypospadias, and maxillary diastema, Schmitt-Gillenwater-Kelly syndrome

has related synonym

radial hypoplasia, triphalangeal thumbs and hypospadias

id

MONDO:0008357