Disease Browser
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Parent Node: Pigmentation Disorders (D010859) | Parent Node: Skin Abnormalities (D012868) | ..Starting node ..Skin/Hair/Eye Pigmentation, Variation In, 11 (C567374)
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Sister Nodes: | ..Acrodermatitis (D000169) 1
| ..Anetoderma (D057088) 2
| ..Arthropathy, Erosive (C565273)
| ..Barber Say syndrome (C537908)
| ..Blepharophimosis syndrome type 1 (C536233)
| ..Blepharophimosis syndrome type 2 (C536234)
| ..Blepharophimosis with ptosis, syndactyly, and short stature (C536235)
| ..Blepharophimosis, Ptosis, and Epicanthus Inversus (C562419)
| ..Book Syndrome (C562993)
| ..Carney Complex (D056733) 1
| ..COCOON SYNDROME (OMIM:613630)
| ..Comedones, Familial Dyskeratotic (C562838)
| ..Cutis Gyrata Syndrome of Beare And Stevenson (C565129)
| ..Dermal Ridges, Nelson Syndrome (C565110)
| ..Dermal Ridges, Patternless (C565109)
| ..Dermoodontodysplasia (C565103)
| ..Dyskeratosis Congenita (D019871) 3
| ..Dyskeratosis, Hereditary Benign Intraepithelial (C562551)
| ..Ectodermal Dysplasia (D004476) 144
| ..Ehlers-Danlos Syndrome (D004535) 23
| ..Epidermolysis Bullosa (D004820) 29
| ..Epithelial Squamous Dysplasia, Keratinizing Desquamative, of Urinary Tract (C565584)
| ..Familial popliteal pterygium syndrome (C535891)
| ..Hairy palms and soles (C535620)
| ..Hemangiomatosis, Cutaneous, with Associated Features (C562438)
| ..Hyperkeratotic Cutaneous Capillary-Venous Malformations Associated With Cerebral Capillary Malformations (C566153)
| ..Hypohidrosis aith Abnormal Palmar Dermal Ridges (C565481)
| ..Ichthyosis (D007057) 66
| ..Ichthyosis-Mental Retardation Syndrome with Large Keratohyalin Granules in the Skin (C563402)
| ..Incontinentia Pigmenti (D007184) 2
| ..Keratosis Linearis with Ichthyosis Congenita and Sclerosing Keratoderma (C566600)
| ..Michelin tire baby syndrome (C537575)
| ..Microphthalmia, syndromic 7 (C537466)
| ..Multiple pterygium syndrome (C537377) 1
| ..Oculocerebrocutaneous syndrome (C538088)
| ..Poikiloderma with Neutropenia (C565820)
| ..Poikiloderma, Hereditary Sclerosing (C562824)
| ..Port-Wine Stain (D019339) 4
| ..Prolidase Deficiency (D056732)
| ..Pseudoxanthoma Elasticum (D011561) 2
| ..Pterygium Colli, Isolated (C566741)
| ..Ridges-off-the-end syndrome (C531754)
| ..Rothmund-Thomson Syndrome (D011038) 5
| ..Sclerema Neonatorum (D012593)
| ..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)
| ..Tight skin contracture syndrome, lethal (C536920)
| ..Trichothiodystrophy Syndromes (D054463) 5
| ..Urban Schosser Spohn syndrome (C536476)
| ..Vascular Hyalinosis (C564750)
| ..Winter Shortland Temple syndrome (C536735)
| ..Xeroderma Pigmentosum (D014983) 16
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Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD
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Term ID: | 10289 |
Name: | Skin/Hair/Eye Pigmentation, Variation In, 11 |
Definition: | |
Alternative IDs: | |
ParentIDs: | MESH:D010859|MESH:D012868 |
TreeNumbers: | C16.131.831/C567374 |C17.800.621/C567374 |C17.800.804/C567374 |
Synonyms: | SHEP11 |Skin/Hair/Eye Pigmentation 11, Blue/Nonblue Eyes |
Slim Mappings: | Congenital abnormality|Skin disease |
Reference: |
MedGen: C567374
MeSH: C567374
OMIM: 612271;
Genes: AF8T; TYRP1; | 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_000550.2(TYRP1):c.277C>T (p.Arg93Cys) | 7306 | TYRP1 | Affects | 387907171 | RCV000024318; | N | MedGen:C2677086,OMIM:612271 | 9 | 12694273 | 12694273 | NM_000550.2:c.277C>T | NP_000541.1:p.Arg93Cys | NC_000009.11:g.12694273C>T | OMIM Allelic Variant:115501.0007 | C2677086 612271 Skin/hair/eye pigmentation, variation in, 11 | | |
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