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Oculocutaneous albinism type 1 MeSH Supplementary Concept Data 2024


MeSH Supplementary
Oculocutaneous albinism type 1
Unique ID
C537728
RDF Unique Identifier
http://id.nlm.nih.gov/mesh/C537728
Entry Term(s)
Albinism 1
Albinism I
Albinism, Oculocutaneous, Type IA
Oculocutaneous Albinism, Type I
Oculocutaneous Albinism, Tyrosinase-Negative
Oculocutaneous albinism type 1A
Oculocutaneous albinism, tyrosinase negative
Registry Number
0
Heading Mapped to
*Albinism, Oculocutaneous
Frequency
30
Note
A type of oculocutaneous albinism caused by specific mutations in the TYR gene. OMIM: 606933
Date of Entry
2010/08/25
Revision Date
2019/05/01
Oculocutaneous albinism type 1 Preferred
Albinism, Oculocutaneous, Type IA Narrower
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