phenopackets 0.2.2-post2

Rust bindings for Phenopacket Schema
Documentation 
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comprehensive-family-id�
comprehensive-phenopacket-id^
14 year-old boyboypatientproband��d"

P14Y08J
NCBITaxon:9606homo sapiens�&

HP:0001558Decreased fetal movement2

HP:0011461Fetal onsetB�
@
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 physiologyB�
@
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

P14YB�
@
ECO:00000331author statement supported by traceable referencee

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

HP:0001270Motor delay"

HP:0012825Mild2

HP:0011463Childhood onset*�
biosample-id14 year-old boy" Muscle biopsy of 14 year-old boy*!
UBERON:0003403skin of forearmJ
NCBITaxon:9606homo sapiensR

P14YZ
NCIT:C38757Negative Findingb

NCIT:C3677Benign Neoplasmj&
NCIT:C28076Disease Grade Qualifier� 
NCIT:C68748HER2/Neu Positive�
EFO:0009655abnormal sample2�
comprehensive-phenopacket-idw
 
OMIM:101600PFEIFFER SYNDROMES
14 year-old boy"><2
hgvsNM_001848.2:c.877G>Ar
GENO:0000135heterozygous:D
 
OMIM:101600PFEIFFER SYNDROME 

HP:0003577Congenital onsetR�
file://data/genomes/P000001C
14 year-old boyP000001C
genomeAssembly
GRCh38.p13

fileFormatvcf1
description"Whole genome sequencing VCF outputZ�

�����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_22.0.0:e

PMID:30808312TCOL6A1 mutation leading to Bethlem myopathy with recurrent hematuria: a case report.D
mother-phenopacket-id
MOTHER0Z

�����Peter R.22.0.0D
father-phenopacket-id
FATHER0Z

�����Peter R.22.0.0"C
%14 year-old boyFATHER"MOTHER(0
MOTHER(0
FATHER(0*�
file://data/genomes/FAM000001
14 year-old boyP000001C
MOTHERP000001M
FATHERP000001F
genomeAssembly
GRCh38.p13

fileFormatvcf1
description"Whole genome sequencing VCF output2�

�����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_22.0.0:e

PMID:30808312TCOL6A1 mutation leading to Bethlem myopathy with recurrent hematuria: a case report.8