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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: Progeria (D011371)
..Starting node ..Premature Aging Syndrome, Okamoto Type (C566621)
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:

9242

Name:

Premature Aging Syndrome, Okamoto Type

Definition:

Alternative IDs:

ParentIDs:

MESH:D011371

TreeNumbers:

C16.320.565.753/C566621 |C18.452.648.753/C566621

Synonyms:

Slim Mappings:

Genetic disease (inborn)|Metabolic disease

Reference:

MedGen: C566621
MeSH: C566621
OMIM: 601811;

Genes:

Phenotypes

1	HP:0001595	Abnormal hair morphology
2	HP:0001871	Abnormality of blood and blood-forming tissues
3	HP:0000377	Abnormality of the pinna
4	HP:0000518	Cataract
5	HP:0005280	Depressed nasal bridge
6	HP:0000819	Diabetes mellitus
7	HP:0001507	Growth abnormality
8	HP:0000369	Low-set ears
9	HP:0000252	Microcephaly
10	HP:0002664	Neoplasm
11	HP:0000939	Osteoporosis
12	HP:0002669	Osteosarcoma
13	HP:0000311	Round face

Disease Causing ClinVar Variants