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MSEQDR-CHOP-NAMDC

MSeqDR-CHOP-NAMDC Core Mitochondrial Disease Phenotypes (draft):

127 important phenotypes are compiled by the MSeqDR team (Dr. Marni Falk and team at the Children's Hospital of Philadelphia, and Drs. Lishuang Shen & Xiaowu Gai at Children's Hospital Los Angeles), based upon 123 manifestations initially curated by the North American Mitochondrial Disease Consortium (NAMDC) and Dr. Michio Hirano's group for accurate clinical diagnosis of mitochondrial diseases. Mapping these manifestations to HPO ontology was done by the MSeqDR Consortium (Lishuang Shen, Zarazuela Zolkipli-Cunningham, https://mseqdr.org/hpo_namdc_review.php ).

We combined them with the default PhenoTips Generic phenotype configuration terms to facilitate phenotype collection of mitochondrial disease patients via PhenoTips (see below). This is part of the Mito-PhenoTips being maintained at MSeqDR.org.

MSeqDR-CHOP-NAMDC Core Mitochondrial Disease Symptoms

Growth parameters

Eye Defects

Ear Defects

Craniofacial

Cutaneous

Cardiovascular

Respiratory

Musculoskeletal

Gastrointestinal

Genitourinary

Behavior, Cognition and Development

Neurological


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PhenoTips version 1.3-milestone-2