# albinism

> congenital disorder causing skin to lack pigmentation

**Wikidata**: [Q81867](https://www.wikidata.org/wiki/Q81867)  
**Wikipedia**: [English](https://en.wikipedia.org/wiki/Albinism)  
**Source**: https://4ort.xyz/entity/albinism


## References

1. Amish albinism: a distinctive autosomal recessive phenotype
2. Depigmentations of the general and oral tissues and their genetic foundations
3. A NEW EYE SYNDROME WITH X-CHROMOSOMAL TRANSMISSION. A FAMILY CLAN WITH FUNDUS ALBINISM, FOVEA HYPOPLASIA, NYSTAGMUS, MYOPIA, ASTIGMATISM AND DYSCHROMATOPSIA
4. A syndrome associating partial albinism and immunodeficiency
5. Mutations in the human orthologue of the mouse underwhite gene (uw) underlie a new form of oculocutaneous albinism, OCA4
6. [Nuovo soggettario](https://thes.bncf.firenze.sbn.it/termine.php?id=50088)
7. Human Phenotype Ontology release 2018-03-08
8. ICD-9
9. ICD-10 Online version (2010)
10. Nuovo soggettario
11. Freebase Data Dumps. 2013
12. Czech National Authority Database
13. [Source](http://www.patient.co.uk/patientplus/a.htm)
14. BBC Things
15. Mutations in the Chediak-Higashi syndrome gene (CHS1) indicate requirement for the complete 3801 amino acid CHS protein
16. Identification of mutations in two major mRNA isoforms of the Chediak- Higashi syndrome gene in human and mouse
17. Apparent digenic inheritance of Waardenburg syndrome type 2 (WS2) and autosomal recessive ocular albinism (AROA)
18. Human oculocutaneous albinism caused by single base insertion in the tyrosinase gene
19. Yellow mutant albinism: cytochemical, ultrastructural, and genetic characterization suggesting multiple allelism
20. Griscelli disease maps to chromosome 15q21 and is associated with mutations in the myosin-Va gene
21. Mutations in RAB27A cause Griscelli syndrome associated with haemophagocytic syndrome
22. African origin of an intragenic deletion of the human P gene in tyrosinase positive oculocutaneous albinism
23. Thirty distinct CACNA1F mutations in 33 families with incomplete type of XLCSNB and Cacna1f expression profiling in mouse retina
24. ABCD syndrome is caused by a homozygous mutation in the EDNRB gene
25. Mutation in and lack of expression of tyrosinase-related protein-1 (TRP-1) in melanocytes from an individual with brown oculocutaneous albinism: a new subtype of albinism classified as "OCA3"
26. Cloning of the gene for ocular albinism type 1 from the distal short arm of the X chromosome
27. Positional cloning of a gene for Hermansky-Pudlak syndrome, a disorder of cytoplasmic organelles
28. Griscelli syndrome restricted to hypopigmentation results from a melanophilin defect (GS3) or a MYO5A F-exon deletion (GS1)
29. YSO-Wikidata mapping project
30. BabelNet
31. Quora
32. [top scoring links : Albinism](https://old.reddit.com/r/Albinism/top/)
33. Genetic and Rare Diseases Information Center
34. Great Norwegian Encyclopedia
35. ASC Leiden Thesaurus dataset of 5 June 2018
36. KBpedia
37. [OpenAlex](https://docs.openalex.org/download-snapshot/snapshot-data-format)