Description: A kfpt in the knowledge graph
The CFDE Data Distillery Knowledge Graph contains entities and relationships across the CFDE. View KFPT:PT-HTT4DP2W CUI's neighborhood in the knowledge graph.
Source
Relation
Target
Evidence
KFPT:PT-HTT4DP2W CUI
Has phenotype
Long philtrum
Small hand
Thin lips
Microcephaly (physical finding)
Brachycephaly
Cryptorchidism
Posteriorly rotated ear
Belongs to cohort
Kids First: Cornelia de Lange Syndrome
Abnormally low-pitched voice
Proximal placement of thumb