phenopackets 0.2.2-post2

Rust bindings for Phenopacket Schema
Documentation 
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comprehensive-cohort-id$A description of the example cohort.�
comprehensive-phenopacket-id\
14 year-old boyboypatientproband��d"
P14Y08B
NCBITaxon:9606homo sapiens�&

HP:0001558Decreased fetal movementJ

HP:0011461Fetal onsetR�
@
ECO:00000331author statement supported by traceable referencee

PMID:30808312TCOL6A1 mutation leading to Bethlem myopathy with recurrent hematuria: a case report.�/

HP:0031910!Abnormal cranial nerve physiologyR�
@
ECO:00000331author statement supported by traceable referencee

PMID:30808312TCOL6A1 mutation leading to Bethlem myopathy with recurrent hematuria: a case report.�#

HP:0011463Macroscopic hematuria*

HP:0031796	Recurrent2
P14YR�
@
ECO:00000331author statement supported by traceable referencee

PMID:30808312TCOL6A1 mutation leading to Bethlem myopathy with recurrent hematuria: a case report.N

HP:0001270Motor delay"

HP:0012825MildJ

HP:0011463Childhood onset"�
biosample-id14 year-old boy Muscle biopsy of 14 year-old boy"!
UBERON:0003403skin of forearm2
NCBITaxon:9606homo sapiens:
P14YJ
NCIT:C38757Negative FindingR

NCIT:C3677Benign NeoplasmZ&
NCIT:C28076Disease Grade Qualifierb 
NCIT:C68748HER2/Neu Positive*

HGNC1:3688FGFR126NM_001848.2:c.877G>A2
GENO:0000135heterozygous:B
 
OMIM:101600PFEIFFER SYNDROME"

HP:0003577Congenital onsetBm
file://data/genomes/P000001C"Whole genome sequencing VCF output"
GRCh38.p13*
14 year-old boyP000001CJ�

�����Peter R.PhenopacketLab"y
hphuman phenotype ontology%http://purl.obolibrary.org/obo/hp.owl"
2018-03-08*HP2"http://purl.obolibrary.org/obo/HP_"z
genoGenotype Ontology'http://purl.obolibrary.org/obo/geno.owl"
19-03-2018*GENO2$http://purl.obolibrary.org/obo/GENO_"<
pubmedPubMed*PMID2$https://www.ncbi.nlm.nih.gov/pubmed/"v
ncit
NCI Thesaurus'http://purl.obolibrary.org/obo/ncit.owl"
20-03-2020*NCIT2$http://purl.obolibrary.org/obo/NCIT_21.0.0:e

PMID:30808312TCOL6A1 mutation leading to Bethlem myopathy with recurrent hematuria: a case report.

MOTHER0

FATHER0"�
file://data/genomes/FAM000001"Whole genome sequencing VCF output"
GRCh38.p13*
14 year-old boyP000001C*
MOTHERP000001M*
FATHERP000001F*�

�����Peter R.PhenopacketLab"y
hphuman phenotype ontology%http://purl.obolibrary.org/obo/hp.owl"
2018-03-08*HP2"http://purl.obolibrary.org/obo/HP_"z
genoGenotype Ontology'http://purl.obolibrary.org/obo/geno.owl"
19-03-2018*GENO2$http://purl.obolibrary.org/obo/GENO_"<
pubmedPubMed*PMID2$https://www.ncbi.nlm.nih.gov/pubmed/"v
ncit
NCI Thesaurus'http://purl.obolibrary.org/obo/ncit.owl"
20-03-2020*NCIT2$http://purl.obolibrary.org/obo/NCIT_21.0.0:e

PMID:30808312TCOL6A1 mutation leading to Bethlem myopathy with recurrent hematuria: a case report.