loading...| Preferred Name |
oculocutaneous albinism |
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| Synonyms |
non-syndromic oculocutaneous albinism nonsyndromic oculocutaneous albinism OCA albinism, oculocutaneous |
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| Definitions |
Oculocutaneous albinism (OCA) describes a group of inherited disorders of melanin biosynthesis characterized by a generalized reduction in pigmentation of hair, skin and eyes and variable ocular findings including nystagmus, reduced visual acuity and photophobia. Variants include OCA1A (the most severe form), OCA1B, OCA1-minimal pigment (OCA1-MP), OCA1-temperature sensitive (OCA1-TS), OCA2, OCA3, OCA4, OCA5, OCA6 and OCA7. |
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| ID |
http://purl.obolibrary.org/obo/MONDO_0018910 |
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| has_exact_synonym |
non-syndromic oculocutaneous albinism nonsyndromic oculocutaneous albinism OCA |
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| has_related_synonym |
albinism, oculocutaneous |
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| label |
oculocutaneous albinism |
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| prefixIRI |
MONDO:0018910 |
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| prefLabel |
oculocutaneous albinism |
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| seeAlso |
https://rarediseases.info.nih.gov/diseases/10958/oculocutaneous-albinism |
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| textual definition |
Oculocutaneous albinism (OCA) describes a group of inherited disorders of melanin biosynthesis characterized by a generalized reduction in pigmentation of hair, skin and eyes and variable ocular findings including nystagmus, reduced visual acuity and photophobia. Variants include OCA1A (the most severe form), OCA1B, OCA1-minimal pigment (OCA1-MP), OCA1-temperature sensitive (OCA1-TS), OCA2, OCA3, OCA4, OCA5, OCA6 and OCA7. |
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| subClassOf |
http://purl.obolibrary.org/obo/MONDO_0100118 http://purl.obolibrary.org/obo/MONDO_0018134 |