Aminoacylase 1 deficiency
Aminoacylase 1 deficiency (ACY1D) is an inborn error of metabolism marked by a characteristic pattern of urinary N-acetyl amino acid excretion and neurologic symptoms
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Summary
Aminoacylase 1 deficiency is a rare disease[1].
Key Facts
- Aminoacylase 1 deficiency's instance of is recorded as rare disease[2].
- Aminoacylase 1 deficiency's instance of is recorded as class of disease[3].
- Aminoacylase 1 deficiency's subclass of is recorded as organic acidemia[4].
- Aminoacylase 1 deficiency's subclass of is recorded as inborn aminoacylase deficiency[5].
- Aminoacylase 1 deficiency's subclass of is recorded as neurometabolic disease[6].
- Aminoacylase 1 deficiency's MeSH descriptor ID is recorded as C538246[7].
- Aminoacylase 1 deficiency's OMIM ID is recorded as 609924[8].
- Aminoacylase 1 deficiency's KEGG ID is recorded as H01146[9].
- Aminoacylase 1 deficiency's Orphanet ID is recorded as 137754[10].
- Aminoacylase 1 deficiency's ICD-9-CM is recorded as 270.8[11].
- Aminoacylase 1 deficiency's genetic association is recorded as ACY1[12].
- Aminoacylase 1 deficiency's UMLS CUI is recorded as C1835922[13].
- Aminoacylase 1 deficiency's ICD-10-CM is recorded as E72.8[14].
- Aminoacylase 1 deficiency's GARD rare disease ID is recorded as 9741[15].
- Aminoacylase 1 deficiency's Mondo ID is recorded as MONDO_0012368[16].
- Aminoacylase 1 deficiency's Microsoft Academic ID is recorded as 2776906848[17].
- Aminoacylase 1 deficiency's Genetics Home Reference Conditions ID is recorded as aminoacylase-1-deficiency[18].
- Aminoacylase 1 deficiency's UniProt disease ID is recorded as DI-00095[19].
- Aminoacylase 1 deficiency's Experimental Factor Ontology ID is recorded as 1001981[20].