NTR: Creatine low in urine (Lab: blood chemistry)

obophenotype / human-phenotype-ontology

Ontology for the description of human clinical features

http://obophenotype.github.io/human-phenotype-ontology/

Other

292 stars 51 forks source link

NTR: Creatine low in urine (Lab: blood chemistry) #8282

Closed pnrobinson closed 4 months ago

pnrobinson commented 1 year ago

New term request Creatine low in urine (segal_110901180359):

pnrobinson commented 7 months ago

@MickeySegal is this a 24h measurement? I do not think that a spot measurement would be as useful, but 24h measurement is used in the diagnosis of frailty? What is the context?

MickeySegal commented 7 months ago

https://www.ncbi.nlm.nih.gov/books/NBK3794/

GAMT deficiency. Elevated guanidinoacetate (GAA) levels in urine, plasma, or cerebrospinal fluid (CSF) and low or low-normal creatine and creatinine levels in urine, plasma, or CSF
AGAT deficiency. Low GAA levels in urine, plasma, or CSF and low or low-normal creatine and creatinine levels in urine, plasma, or CSF

pnrobinson commented 4 months ago

@MickeySegal Adding new term:

ID: HP:6000748
label: Decreased urinary creatine level
parents: Abnormal urinary organic compound level (HP:6000531)
pmid:
def: The amount of creatine in the urine, normalized for urine concentration, is below the lower limit of normal.
comment:
orcid: orcid:0000-0002-0736-9199
github ID: https://github.com/obophenotype/human-phenotype-ontology/issues/8282
synonyms: