Griscelli syndrome type 1
Griscelli syndrome characterized by silvery gray sheen of the hair, hypopigmentation of the skin and neurological impairment without immunodeficiency that has material basis in mutations in the MYO5A gene on chromosome 15q21.2
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Griscelli syndrome type 1
Summary
Griscelli syndrome type 1 is a malformation syndrome[1]. It draws 6 Wikipedia views per month (malformation_syndrome category, ranking #6 of 8).[2]
Key Facts
- Griscelli syndrome type 1's instance of is recorded as malformation syndrome[3].
- Griscelli syndrome type 1's instance of is recorded as class of disease[4].
- Griscelli syndrome type 1's subclass of is recorded as Griscelli syndrome[5].
- Griscelli syndrome type 1's MeSH descriptor ID is recorded as C537301[6].
- Griscelli syndrome type 1's OMIM ID is recorded as 214450[7].
- Griscelli syndrome type 1's eMedicine ID is recorded as 1069594[8].
- Griscelli syndrome type 1's Disease Ontology ID is recorded as DOID:0060832[9].
- Griscelli syndrome type 1's Orphanet ID is recorded as 79476[10].
- Griscelli syndrome type 1's different from is recorded as Acrocephalopolydactyly[11].
- Griscelli syndrome type 1's health specialty is recorded as medical genetics[12].
- Griscelli syndrome type 1's exact match is recorded as http://purl.obolibrary.org/obo/DOID_0060832[13].
- Griscelli syndrome type 1's exact match is recorded as http://identifiers.org/doid/DOID:0060832[14].
- Griscelli syndrome type 1's exact match is recorded as http://www.orpha.net/ORDO/Orphanet_79476[15].
- Griscelli syndrome type 1's UMLS CUI is recorded as C1859194[16].
- Griscelli syndrome type 1's GARD rare disease ID is recorded as 2566[17].
- Griscelli syndrome type 1's on focus list of Wikimedia project is recorded as WikiProject Medicine[18].
- Griscelli syndrome type 1's Mondo ID is recorded as MONDO_0008962[19].
- Griscelli syndrome type 1's Microsoft Academic ID is recorded as 2780565392[20].
- Griscelli syndrome type 1's ICD-11 ID is recorded as 875700770[21].
- Griscelli syndrome type 1's WikiProjectMed ID is recorded as Elejalde syndrome[22].
- Griscelli syndrome type 1's UniProt disease ID is recorded as DI-01686[23].
Why It Matters
Griscelli syndrome type 1 draws 6 Wikipedia views per month (malformation_syndrome category, ranking #6 of 8).[2] It has Wikipedia articles in 5 language editions, a strong signal of global cultural recognition.[24] It is known by 6 alternative names across languages and contexts.[25]