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obophenotype / human-phenotype-ontology

Ontology for the description of human clinical features
http://obophenotype.github.io/human-phenotype-ontology/
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N-Acetylaspartic acid levels and ASPA relation #4233

Closed zafush closed 5 years ago

zafush commented 5 years ago

For new term requests, please provide us with the following information:

1. Preferred term label

Abnormality of N-Acetylaspartic acid levels in urine

Extra Notes: (Blood and CSF can also be added seperately under Abnormality of N-Acetylaspartic acid levels)

2. Synonyms

Abnormality of N-acetyl-L-aspartic acid levels in urine (blood and CSF) Abnormality of N-acetylaspartate levels in urine (blood and CSF) Abnormality of N-acetyl aspartate levels in urine (blood and CSF) Abnormality of N-acetyl aspartic acid levels in urine (blood and CSF) Abnormality of NAA levels in urine (blood and CSF)

3. Textual definition (should be understandable even for non-specialists, please include a PubMed ID for relevant articles providing additional information about the suggestion)

Elevated N-acetylaspartic acid (NAA) in urine using gas chromatography-mass spectrometry.

Other notes: Although NAA concentration is also elevated in the blood and cerebrospinal fluid (CSF) of children with neonatal/infantile (severe) Canavan disease, elevated concentration of NAA in urine is sufficient for diagnosis of affected individuals. References: (1) Michals K, Matalon R. Canavan disease. In: Raymond GV, Eichler F, Fatemi A, Naidu S, eds. Leukodystrophies. London: Mac Keith Press; 2011:156-69, (2) PMID: 8412017

4. Parent term (use HPO app, [HPO Browser]

http://compbio.charite.de/hpoweb/showterm?id=HP:0010899

5. Which diseases are characterized by this term ? (e.g. Orphanet- or OMIM-id)

OMIM 271900

6. Your nano-attribution (ORCID-id or label, e.g. HPO:probinson (organization:name))

ORCID-id: 0000-0002-2085-5773

NOTE: Annotations also misses HP:0025052 (detection of NAA by MRS) and ASPA gene (Canavan Disease).

pnrobinson commented 5 years ago

Thanks for the suggestion. I have two comments. There is no condition with "Abnormally low N-acetylaspartic acid urine concentration" and so I think we should make a term with the label "Elevated N-acetylaspartic acid urine level" The HPO has a separate branch for urinary lab abnormalities, and so I will put the term there.

pnrobinson commented 5 years ago

I am adding these terms as "Increased" only since there is no medically relevant "Decreased" etc.