Cell Culture Ontology

Last uploaded: July 23, 2014
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Preferred Name

inborn disorder of porphyrin metabolism
Synonyms

disorder of porphyrin and haem metabolism

inborn disorder of porphyrin and haem metabolism

inherited disorder of porphyrin metabolism

rare inborn error of porphyrin-containing compound metabolic process

inborn porphyrin-containing compound metabolic process disorder

inborn error of porphyrin-containing compound metabolic process
Definitions

An inherited metabolic disease that is has its basis in the disruption of porphyrin-containing compound metabolic process.
ID

http://purl.obolibrary.org/obo/MONDO_0017754
database_cross_reference

ICD10CM:E80.4

Orphanet:309813

SCTID:403832004

GARD:21346
definition

An inherited metabolic disease that is has its basis in the disruption of porphyrin-containing compound metabolic process.
has_broad_synonym

disorder of porphyrin and haem metabolism
has_exact_synonym

inborn disorder of porphyrin and haem metabolism

inherited disorder of porphyrin metabolism

rare inborn error of porphyrin-containing compound metabolic process

inborn porphyrin-containing compound metabolic process disorder

inborn error of porphyrin-containing compound metabolic process
id

MONDO:0017754
in_subset

http://purl.obolibrary.org/obo/mondo/mondo-base#rare

http://purl.obolibrary.org/obo/mondo/mondo-base#gard_rare

http://purl.obolibrary.org/obo/mondo/mondo-base#ordo_group_of_disorders

http://purl.obolibrary.org/obo/mondo/mondo-base#disease_grouping
label

inborn disorder of porphyrin metabolism
notation

MONDO:0017754
preferred label

inborn disorder of porphyrin metabolism
prefLabel

inborn disorder of porphyrin metabolism
skos_exactMatch

http://purl.obolibrary.org/obo/Orphanet_309813

http://identifiers.org/snomedct/403832004
subClassOf

http://purl.obolibrary.org/obo/MONDO_0037821

http://purl.obolibrary.org/obo/MONDO_0019052
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