| Disease Browser
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Parent Node:
 Piebaldism (D016116) | Parent Node:
Pigmentation Disorders (D010859) | ..Starting node
.. Griscelli syndrome type 3 (C537303)
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Child Nodes:
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Sister Nodes: | ..Acroleukopathy, Symmetric (C566322)
| ..Anonychia with Flexural Pigmentation (C566278)
| ..Argyria (D001129)
| ..BADS Syndrome (C562663)
| ..Basaran Yilmaz syndrome (C537660)
| ..Bullous Dystrophy, Hereditary Macular Type (C563065)
| ..Cafe-au-Lait Spots (D019080)  4
| ..Dyschromatosis symmetrica hereditaria 1 (C535729)
| ..Dyschromatosis universalis hereditaria (C535730)
| ..Dyschromatosis Universalis Hereditaria 1 (C567273)
| ..Dyschromatosis Universalis Hereditaria 2 (C567194)
| ..Elejalde Disease (C536203)
| ..FLOTCH syndrome (C537065)
| ..Graying of Hair, Precocious (C564209)
| ..Griscelli syndrome type 1 (C537301)
| ..Griscelli syndrome type 3 (C537303)
| ..Grouped Pigmentation of the Macula (C565530)
| ..Heterochromia iridis (C538115)
| ..Hyperpigmentation (D017495) 30
| ..Hypopigmentation (D017496) 49
| ..Incontinentia Pigmenti (D007184) 2
| ..Leukomelanoderma, Infantilism, Mental Retardation, Hypodontia, Hypotrichosis (C565440)
| ..Macules hereditary congenital hypopigmented and hyperpigmented (C537836)
| ..Oculocerebral hypopigmentation syndrome type Preus (C537866)
| ..Peeling skin syndrome, acral type (C536316)
| ..Pigmentary Disorder, Reticulate, with Systemic Manifestations (C564461)
| ..Pigmented purpuric eruption (C537186)
| ..Propping Zerres syndrome (C538052)
| ..Red skin pigment anomaly of New Guinea (C535515)
| ..Russell-Silver Syndrome, X-Linked (C562446)
| ..Skin/Hair/Eye Pigmentation, Variation In, 10 (C567376)
| ..Skin/Hair/Eye Pigmentation, Variation In, 11 (C567374)
| ..Skin/Hair/Eye Pigmentation, Variation In, 4 (C567300)
| ..Skin/Hair/Eye Pigmentation, Variation In, 5 (C567119)
| ..Skin/Hair/Eye Pigmentation, Variation In, 6 (C567139)
| ..Skin/Hair/Eye Pigmentation, Variation In, 7 (C567155)
| ..Skin/Hair/Eye Pigmentation, Variation In, 8 (C567096)
| ..Skin/Hair/Eye Pigmentation, Variation In, 9 (C567091)
| ..Spastic paraplegia 23 (C536859)
| ..Tang Hsi Ryu syndrome (C536897)
| ..TERMINAL OSSEOUS DYSPLASIA (OMIM:300244)
| ..Terminal Osseous Dysplasia and Pigmentary Defects (C564554)
| ..Thumb deformity, alopecia, pigmentation anomaly (C536904)
| ..Urticaria Pigmentosa (D014582)
| ..WAARDENBURG SYNDROME, TYPE 4A (OMIM:277580)
| ..White forelock with malformations (C536700)
| ..Whyte Murphy syndrome (C536054)
| ..Xeroderma Pigmentosum (D014983) 16
| ..Yellow Nail Syndrome (D056684) 1
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Human Disease MESH is developed by UMLS.
Further data from MedGen, OMIM, CTD
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| Term ID: | 4820 |
| Name: | Griscelli syndrome type 3 |
| Definition: | |
| Alternative IDs: | OMIM:609227 |
| ParentIDs: | MESH:D010859|MESH:D016116 |
| TreeNumbers: | C16.320.290.040.600/C537303 |C16.320.565.100.102.600/C537303 |C16.320.850.080.600/C537303 |C17.800.621.440.102.600/C537303 |C17.800.621/C537303 |C17.800.827.080.600/C537303 |C18.452.648.100.102.600/C537303 |
| Synonyms: | Griscelli Syndrome, Type 3 |GS3 |Hypomelanosis with no immunologic or neurologic manifestations |
| Slim Mappings: | Genetic disease (inborn)|Metabolic disease|Skin disease |
| Reference: |
MedGen: C537303
MeSH: C537303
OMIM: 609227;
Genes: MLPH; | | Phenotypes | | | Disease Causing ClinVar Variants | | Variation_Name | GeneID | GeneSymbol | ClinicalSignificance | dbSNP | RCVaccession | TestedInGTR | PhenotypeIDs | Chromosome | Start | Stop | HGVS_c | HGVS_p | HGVS_g | OtherIDs | Disease_ClinVar | Disease_hgmd | | NM_024101.6(MLPH):c.103C>T (p.Arg35Trp) | 79083 | MLPH | Pathogenic | 119473031 | RCV000004489; | N | MedGen:C1836573,OMIM:609227,ORPHA:79478 | 2 | 238402172 | 238402172 | NM_024101.6:c.103C>T | NP_077006.1:p.Arg35Trp | NC_000002.11:g.238402172C>T | OMIM Allelic Variant:606526.0001 | C1836573 609227 Griscelli syndrome type 3 | | |
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