loading...| Preferred Name |
oculocutaneous albinism |
|
| Synonyms |
non-syndromic oculocutaneous albinism nonsyndromic oculocutaneous albinism OCA albinism, oculocutaneous |
|
| 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. |
|
| ID |
http://purl.obolibrary.org/obo/MONDO_0018910 |
|
| database_cross_reference |
Orphanet:55 OMIMPS:203100 icd11.foundation:1189424097 DOID:0050632 NANDO:1200637 MESH:D016115 UMLS:C0078918 NANDO:1200641 NANDO:2200986 NCIT:C84941 SCTID:63844009 GARD:10958 ICD9:270.2 NORD:1522 |
|
| 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. |
|
| exactMatch |
http://identifiers.org/mesh/D016115 http://purl.obolibrary.org/obo/NCIT_C84941 http://purl.obolibrary.org/obo/DOID_0050632 http://identifiers.org/snomedct/63844009 https://omim.org/phenotypicSeries/PS203100 |
|
| has_exact_synonym |
non-syndromic oculocutaneous albinism nonsyndromic oculocutaneous albinism OCA |
|
| has_related_synonym |
albinism, oculocutaneous |
|
| id |
MONDO:0018910 |
|
| in_subset |
http://purl.obolibrary.org/obo/mondo/mondo-base#rare http://purl.obolibrary.org/obo/mondo/mondo-base#otar http://purl.obolibrary.org/obo/mondo/mondo-base#gard_rare http://purl.obolibrary.org/obo/mondo/mondo-base#ordo_group_of_disorders http://purl.obolibrary.org/obo/mondo/mondo-base#disease_grouping |
|
| label |
oculocutaneous albinism |
|
| notation |
MONDO:0018910 |
|
| prefLabel |
oculocutaneous albinism |
|
| see also |
https://rarediseases.info.nih.gov/diseases/10958/oculocutaneous-albinism |
|
| subClassOf |
http://purl.obolibrary.org/obo/MONDO_0100118 |
|
| excluded_subClassOf |