loading...| Preferred Name |
ALBINISM, OCULOCUTANEOUS, TYPE II |
|
| Synonyms |
ALBINISM, BROWN OCULOCUTANEOUS |
|
| ID |
http://purl.bioontology.org/ontology/OMIM/203200 |
|
| altLabel |
ALBINISM, BROWN OCULOCUTANEOUS OCULOCUTANEOUS ALBINISM, TYPE II BROWN OCULOCUTANEOUS ALBINISM OCA2 BOCA OCULOCUTANEOUS ALBINISM, TYROSINASE-POSITIVE ALBINISM II |
|
| cui |
C0268495 C0268497 |
|
| Gene Locus |
15q11.2-q12 |
|
| Gene Symbol |
OCA2 HCL3 PED P EYCL3 D15S12 SHEP1 BOCA |
|
| Has manifestation |
http://purl.bioontology.org/ontology/OMIM/MTHU023716 http://purl.bioontology.org/ontology/OMIM/MTHU014808 http://purl.bioontology.org/ontology/OMIM/MTHU031617 http://purl.bioontology.org/ontology/OMIM/MTHU023712 http://purl.bioontology.org/ontology/OMIM/MTHU023714 http://purl.bioontology.org/ontology/OMIM/MTHU031616 http://purl.bioontology.org/ontology/OMIM/MTHU023715 http://purl.bioontology.org/ontology/OMIM/MTHU000389 http://purl.bioontology.org/ontology/OMIM/MTHU014626 http://purl.bioontology.org/ontology/OMIM/MTHU031620 http://purl.bioontology.org/ontology/OMIM/MTHU031619 http://purl.bioontology.org/ontology/OMIM/MTHU014638 http://purl.bioontology.org/ontology/OMIM/MTHU031618 http://purl.bioontology.org/ontology/OMIM/MTHU001845 http://purl.bioontology.org/ontology/OMIM/MTHU031615 http://purl.bioontology.org/ontology/OMIM/MTHU031614 http://purl.bioontology.org/ontology/OMIM/MTHU023717 http://purl.bioontology.org/ontology/OMIM/MTHU023711 http://purl.bioontology.org/ontology/OMIM/MTHU023710 http://purl.bioontology.org/ontology/OMIM/MTHU031621 |
|
| MIMTYPEMEANING |
Phenotype description, molecular basis known. |
|
| Moved from |
203310 |
|
| notation |
203200 |
|
| OMIM Entry Type |
3 |
|
| OMIM MimType Value |
pound |
|
| prefLabel |
ALBINISM, OCULOCUTANEOUS, TYPE II |
|
| Scope Statement |
Prevalence of 1 in 240 Zuni Indians [MISCELLANEOUS] See also OCA1A (203100) [MISCELLANEOUS] Prevalence of 1 in 227 Hopi Indians [MISCELLANEOUS] Prevalence of 1 in 2,833 in Zimbabwe [MISCELLANEOUS] Prevalence of 1 in 1,429 in Tanzania [MISCELLANEOUS] High frequency in equatorial Africa [MISCELLANEOUS] Prevalence of 1 in 7,900 in Cameroon [MISCELLANEOUS] Prevalence of 1 in 3,900 in South Africa [MISCELLANEOUS] Individuals may accumulate more pigment in hair and eyes with age [MISCELLANEOUS] Prevalence of 1 in 10,000 African-Americans [MISCELLANEOUS] Caused by mutation in the homolog of the mouse pink-eyed dilution gene (OCA2, 611409.0001) [MOLECULAR BASIS] Prevalence of 1 in 10,000 Caucasians [MISCELLANEOUS] One of the 2 most common forms of OCA in the world along with OCA1 [MISCELLANEOUS] Highly variable phenotype with regard to pigmentation [MISCELLANEOUS] |
|
| tui |
T047 T019 |