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acro-renal-mandibular syndrome

^ http://purl.obolibrary.org/obo/MONDO_0008707

Acro-renal-mandibular syndrome is a very rare multiple congenital anomalies syndrome characterized by limb deficiencies and renal anomalies that include split hand-split foot malformation, renal agenesis, polycystic kidneys, uterine anomalies and severe mandibular hypoplasia. An autosomal recessive mode of inheritance has been suggested. [ Orphanet:958 ]

Term info

database cross reference
  • GARD:0000480 (MONDO:equivalentTo)
  • SCTID:720414005 (MONDO:equivalentTo)
  • UMLS:C1860166 (Orphanet:958/e)
  • OMIM:200980 (Orphanet:958/e)
  • MESH:C535665 (Orphanet:958/e)
  • Orphanet:958 (OMIM:200980)
Subsets

ordo_malformation_syndrome

definition

Acro-renal-mandibular syndrome is a very rare multiple congenital anomalies syndrome characterized by limb deficiencies and renal anomalies that include split hand-split foot malformation, renal agenesis, polycystic kidneys, uterine anomalies and severe mandibular hypoplasia. An autosomal recessive mode of inheritance has been suggested.

exactMatch

http://identifiers.org/mesh/C535665, https://omim.org/entry/200980, http://identifiers.org/snomedct/720414005, http://purl.obolibrary.org/obo/Orphanet_958, http://linkedlifedata.com/resource/umls/id/C1860166

has exact synonym

split hand/split foot-mandibular hypoplasia syndrome

has related synonym

split hand split foot mandibular hypoplasia, acro-renal-uterine-mandibular syndrome, acrorenal-mandibular syndrome, split-hand and split-foot with mandibular hypoplasia, acrorenal mandibular syndrome, acrorenal-uterine-mandibular syndrome

id

MONDO:0008707