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: Hip Dislocation, Congenital (D006618)
..Starting node ..DEVELOPMENTAL DYSPLASIA OF THE HIP 1 (OMIM:142700)
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:

3258

Name:

DEVELOPMENTAL DYSPLASIA OF THE HIP 1

Definition:

Alternative IDs:

ParentIDs:

MESH:D006618

TreeNumbers:

C05.660.449/142700 |C16.131.621.449/142700

Synonyms:

ACETABULAR DYSPLASIA |CDH |DDH |DDH1 |HIP DYSPLASIA, CONGENITAL |HIP DYSPLASIA, DEVELOPMENTAL

Slim Mappings:

Congenital abnormality|Musculoskeletal disease

Reference:

MedGen: 142700
MeSH: 142700
OMIM: 142700;

Genes:

Phenotypes

1	HP:0008807	Acetabular dysplasia
2	HP:0001374	Congenital hip dislocation
3	HP:0001426	Multifactorial inheritance

Disease Causing ClinVar Variants