Regulation of Transcription Ontology

Last uploaded: December 4, 2018
Preferred Name

Hawkinsinuria
Synonyms

HAWK

Definitions

(HAWK) - An inborn error of tyrosine metabolism characterized by failure to thrive, persistent metabolic acidosis, fine and sparse hair, and excretion of the unusual cyclic amino acid metabolite, hawkinsin, in the urine.

ID

http://identifiers.org/omim/140350

altLabel

HAWK

definition

(HAWK) - An inborn error of tyrosine metabolism characterized by failure to thrive, persistent metabolic acidosis, fine and sparse hair, and excretion of the unusual cyclic amino acid metabolite, hawkinsin, in the urine.

id

OMIM:140350

notation

OMIM:140350

prefLabel

Hawkinsinuria

subClassOf

http://purl.obolibrary.org/obo/OGMS_0000031

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