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: Craniofacial Abnormalities (D019465)
Parent Node: Fetal Growth Retardation (D005317)
Parent Node: Hand Deformities, Congenital (D006228)
Parent Node: Hip Dislocation, Congenital (D006618)
..Starting node ..Camptodactyly syndrome Guadalajara type 2 (C537971)
Child Nodes:
Sister Nodes:
..Camptodactyly syndrome Guadalajara type 2 (C537971)
..Carnevale syndrome (C535586)
..CODAS syndrome (C536434)
..Coxoauricular Syndrome (C565148)
..DEVELOPMENTAL DYSPLASIA OF THE HIP 1 (OMIM:142700)
..Dislocation of Hip, Congenital, with Hyperextensibility of Fingers and Facial Dysmorphism (C563315)
..Dwarfism tall vertebrae (C535725)
..Dwarfism, Proportionate, with Hip Dislocation (C565614)
..Hip Dysplasia, Beukes Type (C564185)
..Ho Kaufman Mcalister syndrome (C538325)
..Keratoconus And Congenital Hip Dysplasia (C565456)
..Neurologic Disease, Infantile Multisystem, with Osseous Fragility (C564954)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:	1591
Name:	Camptodactyly syndrome Guadalajara type 2
Definition:
Alternative IDs:
ParentIDs:	MESH:D005317\|MESH:D006228\|MESH:D006618\|MESH:D019465
TreeNumbers:	C05.390.408/C537971 \|C05.660.207/C537971 \|C05.660.449/C537971 \|C05.660.585.988.425/C537971 \|C13.703.277.370/C537971 \|C16.131.621.207/C537971 \|C16.131.621.449/C537971 \|C16.131.621.585.425/C537971 \|C16.300.390/C537971 \|C23.550.393.450/C537971
Synonyms:	Guadalajara camptodactyly syndrome type 2
Slim Mappings:	Congenital abnormality\|Fetal disease\|Musculoskeletal disease\|Pathology (process)\|Pregnancy complication
Reference:	MedGen: C537971 MeSH: C537971 OMIM: Genes:
Phenotypes
Disease Causing ClinVar Variants