Encoding Clinical Data with HPO: Hints and Solutions

Note on Clinical Ambiguity

There is often some ambiguity in the way clinical data is represented. If your answer differs slightly from the following selection, it is not necessarily wrong.

Exercise 1: Solution

HPO terms representing the phenotypic features observed in the proband with X-linked Megalocornea [PMID:24073597].

Exercise 2: Solution

HPO terms representing the phenotypic features observed in the proband with Stickler syndrome [PMID:32558342].

HPO Term	ID	Link
Scleral staphyloma	`HP:0030854`
Downslanted palpebral fissures	`HP:0000494`
Bilateral sensorineural hearing impairment	`HP:0008619`
Joint laxity	`HP:0001388`
Optically empty vitreous	`HP:0030663`
Scapular winging	`HP:0003691`
Short nose	`HP:0003196`
Gastroesophageal reflux	`HP:0002020`
High myopia	`HP:0011003`
Depressed nasal bridge	`HP:0005280`
Adenoiditis	`HP:0031458`
Vitreous floaters	`HP:0100832`
High, narrow palate	`HP:0002705`
Pectus carinatum	`HP:0000768`
Pes planus	`HP:0001763`
Laryngomalacia	`HP:0001601`
Micrognathia	`HP:0000347`

Next Module: GA4GH Phenopackets