peupeubangbang

MAxO

Medical action ontology

exomiser-demo

Demo exomiser application

uberon

An ontology of gross anatomy covering metazoa. Works in concert with https://github.com/obophenotype/cell-ontology

Exomiser

A Tool to Annotate and Prioritize Exome Variants

API_V1

http://api.orphacode.org

phenopacket-validator

Library and tools to help validate phenopackets

RDcode_Data_viz_bundle

Repository to build a stand alone docker version of RDcode data visualisation

API_RDcode

RDcode API server

API_Orphadata

phenolyzer

phenotype-based prioritization of candidate genes for human diseases

orphapacket

Orphadata_aggregated

Provided files are a partial extraction of the Orphanet knowledge base on Rare Diseases

RD-CODE

In the framework of the RD-CODE project, Orphanet provides a set of files, the Orphanet nomenclature files for coding, intended to be used to implement the Orphanet nomenclature in Health Information Systems for codification purposes.

FaceTools

2D and 3D facial image analysis and visualisation functionality for Cliniface.

notion-sdk-js

Official Notion JavaScript Client

loinc2hpoAnnotation

loinc2hpo Annotation Data

HPOworkbench

Human Phenotype Ontology Workbench

protege-tutorial

Material for GO OWL/Protege Tutorial

human-phenotype-ontology

Ontology for the description of human clinical features

loinc2hpo

Java library to map LOINC-encoded test results to Human Phenotype Ontology

pato

PATO - the Phenotype And Trait Ontology

mondo

Mondo Disease Ontology