loading...| Preferred Name |
Oculocutaneous albinism type 2 |
|
| Synonyms |
Oculocutaneous albinism tyrosinase positive |
|
| ID |
http://purl.bioontology.org/ontology/MESH/C537730 |
|
| altLabel |
Oculocutaneous albinism tyrosinase positive Albinoidism Albinism, Oculocutaneous, Type II Oculocutaneous Albinism, Type II Oculocutaneous Albinism, Tyrosinase-Positive OCA2 Albinism, oculocutaneous, type 2 Albinism II Albinism 2 Tyrosinase-positive oculocutaneous albinism |
|
| cui |
C0268495 |
|
| HM |
D016115 |
|
| Inverse of RB |
0 |
|
| Mapped to | ||
| MDA |
20100825 |
|
| MeSH Frequency |
54 |
|
| MMR |
20150818 |
|
| notation |
C537730 |
|
| prefLabel |
Oculocutaneous albinism type 2 |
|
| SC |
3 |
|
| Scope Statement |
An autosomal recessive, tyrosinase positive type of oculocutaneous albinism where MELANIN biosynthesis is reduced in the skin. Infants appear phenotypically similar to OCA1 (OMIM: 203100) but acquire small amounts of pigment with age. Affected individuals also have other similar, though less severe, phenotypes to OCA1. Mutations in the OCA2 gene have been identified. OMIM: 203200 |
|
| TERMUI |
T824883 T824886 T743569 T743574 T801220 T743571 T743575 T824884 T743572 T824885 T743573 |
|
| TH |
OMIM (2013) ORD (2010) |
|
| tui |
T047 |