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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: Hair Diseases (D006201)
Parent Node: Langer-Giedion Syndrome (D015826)
..Starting node ..Giedion syndrome (C536820)
Child Nodes:
Sister Nodes:
..Giedion syndrome (C536820)
..TRICHORHINOPHALANGEAL SYNDROME, TYPE I (OMIM:190350)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:	4598
Name:	Giedion syndrome
Definition:
Alternative IDs:
ParentIDs:	MESH:D006201\|MESH:D015826
TreeNumbers:	C05.116.099.708.582/C536820 \|C17.800.329/C536820
Synonyms:	Trichorhinophalangeal dysplasia 1 \|Trichorhinophalangeal Syndrome, Type I \|Trichorhinophalangeal (TRP) syndrome 1
Slim Mappings:	Musculoskeletal disease\|Skin disease
Reference:	MedGen: C536820 MeSH: C536820 OMIM: Genes:
Phenotypes
Disease Causing ClinVar Variants