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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: Arachnodactyly (D054119)
Parent Node: Dysostoses (D004413)
Parent Node: Joint Instability (D007593)
..Starting node ..Achard syndrome (C536012)
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:

131

Name:

Achard syndrome

Definition:

Alternative IDs:

ParentIDs:

MESH:D004413|MESH:D007593|MESH:D054119

TreeNumbers:

C05.116.099.370/C536012 |C05.550.521/C536012 |C05.660.585.174/C536012 |C16.131.621.585.174/C536012

Synonyms:

Arachnodactyly, receding lower jaw, and joint laxity limited to the hands and feet |Dysostoses and increased ligament laxity

Slim Mappings:

Congenital abnormality|Musculoskeletal disease

Reference:

MedGen: C536012
MeSH: C536012
OMIM: 100700;

Genes:

Phenotypes

1	HP:0000006	Autosomal dominant inheritance
2	HP:0001166	Arachnodactyly
3	HP:0000248	Brachycephaly
4	HP:0002682	Broad skull
5	HP:0001388	Joint laxity
6	HP:0000347	Micrognathia

Disease Causing ClinVar Variants