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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: Abnormalities, Multiple (D000015)
Parent Node: Growth Disorders (D006130)
Parent Node: Progeria (D011371)
..Starting node ..Petty Laxova Wiedemann syndrome (C537886)
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:	8871
Name:	Petty Laxova Wiedemann syndrome
Definition:
Alternative IDs:
ParentIDs:	MESH:D000015\|MESH:D006130\|MESH:D011371
TreeNumbers:	C16.131.077/C537886 \|C16.320.565.753/C537886 \|C18.452.648.753/C537886 \|C23.550.393/C537886
Synonyms:
Slim Mappings:	Congenital abnormality\|Genetic disease (inborn)\|Metabolic disease\|Pathology (process)
Reference:	MedGen: C537886 MeSH: C537886 OMIM: Genes:
Phenotypes
Disease Causing ClinVar Variants