issues
search
obophenotype
/
human-phenotype-ontology
Ontology for the description of human clinical features
http://obophenotype.github.io/human-phenotype-ontology/
Other
293
stars
51
forks
source link
Possilby missing synoynms
#6505
Closed
pnrobinson
closed
3 years ago
pnrobinson
commented
3 years ago
HSP
[x] Atrioseptal defect
[x] ASD
[x] VSD
[ ] AVSD
[x] Neutropoenia
[ ] Dysmorphic features
[x] Two-vessel cord
[x] Colour blindness
[x] Floppy
[x] Pancytopaenia
[x] Echogenic kidneys
[x] Underdeveloped adrenal glands
[ ] Hypermobile
[x] Vesico-ureteral reflux
[x] gastro-oesophageal reflux
[ ] multiple cafe au lait patches
[x] Pierre-Robin sequence
[x] raised liver enzymes
[ ] cleft lip and palate (often only returns cleft lip)
[ ] FTT
[ ] narrow bell shaped thorax
[x] Poorly developed lungs
[x] PDA
[ ] Bilateral SVC
[ ] TAPVD
[ ] Extra pair of ribs
pnrobinson
commented
3 years ago
added synonyms where appropriate
HSP