Disease browser and phenotype portal

Hello! Guest! Please Login or Register! Clinician Mode

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: Bone Diseases, Developmental (D001848)
Parent Node: Foot Deformities (D005530)
..Starting node ..Kantaputra Gorlin syndrome (C535547)
Child Nodes:
Sister Nodes:
..Flatfoot (D005413)
..Foot Deformities, Acquired (D005531) 4
..Foot Deformities, Congenital (D005532) 78
..Hallux Valgus (D006215)
..Hallux Varus (D050488) 2
..Hammer Toe Syndrome (D037801)
..Kantaputra Gorlin syndrome (C535547)
..Krauss Herman Holmes syndrome (C537618)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:

6017

Name:

Kantaputra Gorlin syndrome

Definition:

Alternative IDs:

OMIM:156232

ParentIDs:

MESH:D001848|MESH:D005530

TreeNumbers:

C05.116.099/C535547 |C05.330/C535547

Synonyms:

MDK |Mesomelic dysplasia, Kantaputra type |Mesomelic dysplasia, Thai type |Mesomelic dysplasia with ankle, carpal, and tarsal synostosis |MMDK

Slim Mappings:

Musculoskeletal disease

Reference:

MedGen: C535547
MeSH: C535547
OMIM: 156232;

Genes:

Phenotypes

1	HP:0000006	Autosomal dominant inheritance
2	HP:0009702	Carpal synostosis
3	HP:0003027	Mesomelia
4	HP:0002986	Radial bowing
5	HP:0008368	Tarsal synostosis

Disease Causing ClinVar Variants