Disease browser and phenotype portal

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Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

Disease Browser
Parent Node: Skin Manifestations (D012877)
..Starting node ..Striae Distensae (D057896)
Child Nodes:
........Striae Distensae, Familial (C566104)
Sister Nodes:
..Cafe-au-Lait Spots (D019080) 4
..Ecchymosis (D004438)
..Jaundice (D007565) 6
..Livedo Reticularis (D054068) 1
..Necrolytic Migratory Erythema (D058568)
..Pallor (D010167)
..Pruritus (D011537) 6
..Purpura (D011693) 15
..Striae Distensae (D057896) 1
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:	10701
Name:	Striae Distensae
Definition:	Linear dermal scars accompanied by epidermal atrophy that affects skin that is subjected to continuous stretching. They usually do not cause any significant medical problems, only cosmetic problems.
Alternative IDs:
ParentIDs:	MESH:D012877
TreeNumbers:	C23.888.885.800
Synonyms:	Distensae, Striae \|Marks, Stretch \|Mark, Stretch \|Stretch Mark \|Stretch Marks
Slim Mappings:	Signs and symptoms
Reference:	MedGen: D057896 MeSH: D057896 OMIM: Genes:
Phenotypes
Disease Causing ClinVar Variants