WormBase Tree Display for DO_term: DOID:0050777

DOID:0050777 Name: Joubert syndrome
  Status: Valid
  Definition: A ciliopathy that is characterized by congenital malformation of the brainstem and agenesis or hypoplasia of the cerebellar vermis leading to an abnormal respiratory pattern, nystagmus, hypotonia, ataxia, and delay in achieving motor milestones.
  Comment: Xref MGI.
  Synonym: Exact: JBTS
  Parent: Is_a: DOID:936
      DOID:0060340
  Child: Is: DOID:0060376
      DOID:0080275
      DOID:0080276
      DOID:0080277
      DOID:0080278
      DOID:0080279
      DOID:0110980
      DOID:0110981
      DOID:0110982
      DOID:0110983
      DOID:0110984
      DOID:0110985
      DOID:0110986
      DOID:0110987
      DOID:0110988
      DOID:0110989
      DOID:0110990
      DOID:0110991
      DOID:0110992
      DOID:0110993
      DOID:0110994
      DOID:0110995
      DOID:0110996
      DOID:0110997
      DOID:0110998
      DOID:0110999
      DOID:0111000
      DOID:0111001
      DOID:0111002
      DOID:0111003
      DOID:0111004
  Disease_model_annotation: WBDOannot00000034
    WBDOannot00000226
    WBDOannot00000602
    WBDOannot00000603
    WBDOannot00001195
  Attribute_of: Gene_by_biology: WBGene00018727
      WBGene00021349
      WBGene00021416
    Gene_by_orthology: WBGene00000188
      WBGene00000491
      WBGene00016005
      WBGene00018727
      WBGene00021416
      WBGene00194710
    Disease_model_variation: WBVar00251224
      WBVar00145886
      WBVar00251337
    Disease_modifier_variation: WBVar00250674