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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: Growth Disorders (D006130)
Parent Node: Nevus, Pigmented (D009508)
Parent Node: Progeria (D011371)
..Starting node ..Progeria short stature pigmented nevi (C536422)
Child Nodes:
Sister Nodes:
..Acrogeria, gottron type (C538187)
..Bird headed dwarfism Montreal type (C535448)
..Penttinen-Aula syndrome (C536653)
..Petty Laxova Wiedemann syndrome (C537886)
..Premature Aging Syndrome, Okamoto Type (C566621)
..Progeria short stature pigmented nevi (C536422)
..Progeria Syndrome, Childhood-Onset (C567661)
..Progeroid Facial Appearance with Hand Anomalies (C566563)
..Progeroid Syndrome, Congenital, Petty Type (C567360)
..Progeroid syndrome, neonatal (C536423)
..Ruvalcaba Churesigaew Myhre syndrome (C537190)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:	9302
Name:	Progeria short stature pigmented nevi
Definition:
Alternative IDs:
ParentIDs:	MESH:D006130\|MESH:D009508\|MESH:D011371
TreeNumbers:	C04.557.665.560.615/C536422 \|C16.320.565.753/C536422 \|C18.452.648.753/C536422 \|C23.550.393/C536422
Synonyms:	Mulvihill-Smith Syndrome \|Progeroid Short Stature with Pigmented Nevi
Slim Mappings:	Cancer\|Genetic disease (inborn)\|Metabolic disease\|Pathology (process)
Reference:	MedGen: C536422 MeSH: C536422 OMIM: Genes:
Phenotypes
Disease Causing ClinVar Variants