Disease #00477 (OCA-2 (albinism, oculocutaneous, type II (OCA-2, brown)), OMIM:203200)

Official abbreviation OCA-2
Name albinism, oculocutaneous, type II (OCA-2, brown)
OMIM ID 203200
Human Phenotype Ontology Project (HPO) HPO
Inheritance -
Individuals reported having this disease 9
Phenotype entries for this disease 5
Associated with 2 genes MC1R, OCA2
Associated tissues -
Disease features -
Remarks -


Individuals

9 entries on 1 page. Showing entries 1 - 9.
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00074554 25455140 OCA_14 PubMed: Urtatiz 2014, Journal: Urtatiz 2014 - M - Colombia - >23y 0 - - OCA-2 Mild generalized hypopigmentation (HP:0007513) OCA2, TYR OCA2 1 1 Pieter Klap
00074555 25455140 OCA_24 PubMed: Urtatiz 2014, Journal: Urtatiz 2014 - M - Colombia - >60y 0 - - OCA-2 Mild generalized hypopigmentation (HP:0007513) OCA2, TYR OCA2 1 1 Pieter Klap
00074556 25455140 OCA_04 PubMed: Urtatiz 2014, Journal: Urtatiz 2014 - M - Colombia - >21y 0 - - OCA-2 Mild generalized hypopigmentation (HP:0007513) OCA2, TYR OCA2 1 1 Pieter Klap
00074567 25455140 OCA_17 PubMed: Urtatiz 2014, Journal: Urtatiz 2014 - M - Colombia - >56y 0 - - OCA-2 Mild generalized hypopigmentation (HP:0007513) OCA2, TYR OCA2, TYR 2 1 Pieter Klap
00100940 - - - - - Germany - - 0 - - OCA-2 - OCA2 OCA2 1 1 Gemeinschaftspraxis für Humangenetik Dresden
00132057 - - - - - Germany - - 0 - - OCA-2 - OCA2 OCA2 1 1 Gemeinschaftspraxis für Humangenetik Dresden
00204360 - - - - - South Africa - - 0 - - OCA-2, OCA-3 Brown OCA, Rufous OCA TYRP1 TYRP1 1 2 William (Bill) Oetting
00204364 - - - - - South Africa - - 0 - - OCA-2, OCA-3 Brown OCA, Rufous OCA TYRP1 TYRP1 2 17 William (Bill) Oetting
00204373 - - - - - United States African American - 0 - - OCA-2, OCA-3 Brown OCA, Rufous OCA TYRP1 TYRP1 1 1 William (Bill) Oetting
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