obophenotype / human-phenotype-ontology

Ontology for the description of human clinical features
http://obophenotype.github.io/human-phenotype-ontology/
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new term:Absent vertebrae cervical and thoracic? #1794

Closed LOURGHI closed 7 years ago

pnrobinson commented 7 years ago

@LOURGHI DO you mean the complete absence of one cervical and one thoracic vertebra or the complete absence of that part of the spine? Please provide the disease and more details. THis seems to be a rare phenotype.

LOURGHI commented 7 years ago

it's mentioned Spina bifida + Absent vertebrae(absent vertebrae cervical and thoracic) in Iniencephaly.

pnrobinson commented 7 years ago

Adding two terms -- Absent cervical vertebra and Absent thoracic vertebra