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DO Term : split hand-foot malformation [DOID:0090020] Disease Ontology

Namespace  disease_ontology Obsolete  false
description  A bone development disease characterized by malformation of the central rays of the autopod and presenting with syndactyly, median clefts of the hands and feet, and aplasia and/or hypoplasia of the phalanges, metacarpals, and metatarsals. Some patients also have mental retardation, ectodermal and craniofacial findings, and orofacial clefting.
  • synonyms:
  • NCI:C75000,
  • UMLS_CUI:C0265554,
  • GARD:6319,
  • PS183600,
  • lobster-claw deformity,
  • OMIM:PS183600,
  • ORDO:2440,
  • SNOMEDCT_US_2023_03_01:81208006,
  • MESH:C574275,
  • split-hand deformity
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