loading...| Preferred Name |
Oculocutaneous Albinism |
|
| Synonyms |
Oculocutaneous Albinism |
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| Definitions |
An autosomal recessive inherited disorder caused by mutations of the OCA2, SLC45A2, TYR and TYRP1 genes. It is characterized by hypopigmentation of the skin, hair, and eyes, resulting in very fair skin, white colored hair, and reduced pigmentation in the iris and retina. Individuals may have vision disturbances and photophobia. |
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| ID |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C84941 |
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| code |
C84941 |
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| Concept_In_Subset | ||
| Contributing_Source |
CCPS |
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| DEFINITION |
An autosomal recessive inherited disorder caused by mutations of the OCA2, SLC45A2, TYR and TYRP1 genes. It is characterized by hypopigmentation of the skin, hair, and eyes, resulting in very fair skin, white colored hair, and reduced pigmentation in the iris and retina. Individuals may have vision disturbances and photophobia. |
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| FULL_SYN |
Oculocutaneous Albinism |
|
| label |
Oculocutaneous Albinism |
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| Preferred_Name |
Oculocutaneous Albinism |
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| prefixIRI |
Thesaurus:C84941 |
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| Related_To_Genetic_Biomarker |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C21236 http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C177178 http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C131349 http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C124234 |
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| Semantic_Type |
Disease or Syndrome |
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| UMLS_CUI |
C0078918 |
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| subClassOf |