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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: Acro-Osteolysis (D030981)
Parent Node: Limb Deformities, Congenital (D017880)
Parent Node: Progeria (D011371)
..Starting node ..Penttinen-Aula syndrome (C536653)
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:	8779
Name:	Penttinen-Aula syndrome
Definition:
Alternative IDs:
ParentIDs:	MESH:D011371\|MESH:D017880\|MESH:D030981
TreeNumbers:	C05.116.099.052/C536653 \|C05.116.264.579.052/C536653 \|C05.660.585/C536653 \|C16.131.621.585/C536653 \|C16.320.565.753/C536653 \|C18.452.648.753/C536653
Synonyms:	Premature aging syndrome Penttinen type \|Premature Aging Syndrome, Penttinen Type
Slim Mappings:	Congenital abnormality\|Genetic disease (inborn)\|Metabolic disease\|Musculoskeletal disease
Reference:	MedGen: C536653 MeSH: C536653 OMIM: Genes:
Phenotypes
Disease Causing ClinVar Variants