About: Pena-Shokeir Syndrome     Goto   Sponge   NotDistinct   Permalink

An Entity of Type : owl:Class, within Data Space : linked.opendata.cz associated with source document(s)

AttributesValues
rdf:type
rdfs:label
  • Pena-Shokeir Syndrome
rdfs:subClassOf
Has_NICHD_Parent
Concept_In_Subset
Semantic_Type
  • Disease or Syndrome
Preferred_Name
  • Pena-Shokeir Syndrome
UMLS_CUI
  • C0265228
Contributing_Source
  • NICHD
FULL_SYN
  • Pena-Shokeir PhenotypePTNICHD
  • Pena-Shokeir SyndromePTNCI
DEFINITION
  • An autosomal recessive inherited disorder. It is characterized by arthrogryposis, facial anomalies, polyhydramnios, camptodactyly, intrauterine growth retardation, and pulmonary hypoplasia. Pulmonary hypoplasia is present in the vast majority of cases and is often the fatal component of this syndrome.NCI
code
  • C99008
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