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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: Facies (D019066)
Parent Node: Hip Dislocation, Congenital (D006618)
Parent Node: Joint Instability (D007593)
..Starting node ..Dislocation of Hip, Congenital, with Hyperextensibility of Fingers and Facial Dysmorphism (C563315)
Child Nodes:
Sister Nodes:
..Achard syndrome (C536012)
..Arterial Tortuosity Syndrome (C565942)
..Axenfeld-Rieger Anomaly with Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, and Skeletal Abnormalities (C566234)
..Daish Hardman Lamont syndrome (C535770)
..Desbuquois syndrome (C535943)
..Dislocation of Hip, Congenital, with Hyperextensibility of Fingers and Facial Dysmorphism (C563315)
..Hemangiomatosis, Cutaneous, with Associated Features (C562438)
..Hypospadias-Mental Retardation Syndrome (C563067)
..Jaffer Beighton syndrome (C537561)
..Megarbane syndrome (C536145)
..Mental Retardation, Joint Hypermobility, And Skin Laxity, With Or Without Metabolic Abnormalities (C567209)
..Panic Disorder with Joint Laxity (C566835)
..Patella, Familial Recurrent Dislocation Of (C566816)
..Spondyloepimetaphyseal Dysplasia With Joint Laxity (C562968)
..Spondyloepiphyseal Dysplasia with Atlantoaxial Instability (C563472)
..Van Maldergem Wetzburger Verloes syndrome (C536530)
..Young Simpson syndrome (C536717)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:

3403

Name:

Dislocation of Hip, Congenital, with Hyperextensibility of Fingers and Facial Dysmorphism

Definition:

Alternative IDs:

OMIM:601450

ParentIDs:

MESH:D006618|MESH:D007593|MESH:D019066

TreeNumbers:

C05.550.521/C563315 |C05.660.449/C563315 |C16.131.621.449/C563315 |C23.550.291.812/C563315

Synonyms:

Hip, Congenital Dislocation of, with Hyperextensibility of Fingers and Facial Dysmorphism

Slim Mappings:

Congenital abnormality|Musculoskeletal disease|Pathology (process)

Reference:

MedGen: C563315
MeSH: C563315
OMIM: 601450;

Genes:

Phenotypes

1	HP:0000006	Autosomal dominant inheritance
2	HP:0001374	Congenital hip dislocation
3	HP:0005191	Congenital knee dislocation
4	HP:0000286	Epicanthus
5	HP:0012368	Flat face
6	HP:0000316	Hypertelorism
7	HP:0000023	Inguinal hernia
8	HP:0001382	Joint hypermobility
9	HP:0001388	Joint laxity
10	HP:0000272	Malar flattening
11	HP:0003502	Mild short stature
12	HP:0001643	Patent ductus arteriosus
13	HP:0001655	Patent foramen ovale
14	HP:0000076	Vesicoureteral reflux
15	HP:0000431	Wide nasal bridge

Disease Causing ClinVar Variants