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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: Heterotaxy Syndrome (D059446)
..Starting node ..Laterality Defects, Autosomal Dominant (C563391)
Child Nodes:
Sister Nodes:
..Atrioventricular Septal Defect, Partial, with Heterotaxy Syndrome (C565249)
..Heterotaxy, Visceral, 3, Autosomal (C565237)
..Heterotaxy, visceral, X-linked (C538116)
..Heterotaxy, Visceroatrial, Autosomal Recessive (C566864)
..Laterality Defects, Autosomal Dominant (C563391)
..Left-Right Axis Malformations (C566610)
..Polyasplenia (C566862)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:

6230

Name:

Laterality Defects, Autosomal Dominant

Definition:

Alternative IDs:

OMIM:601086

ParentIDs:

MESH:D059446

TreeNumbers:

C14.240.400.592/C563391 |C14.280.400.592/C563391 |C15.604.744.146/C563391 |C16.131.077.401/C563391 |C16.131.240.400.592/C563391

Synonyms:

Slim Mappings:

Cardiovascular disease|Congenital abnormality|Lymphatic disease

Reference:

MedGen: C563391
MeSH: C563391
OMIM: 601086;

Genes:

Phenotypes

1	HP:0000006	Autosomal dominant inheritance
2	HP:0001746	Asplenia
3	HP:0001507	Growth abnormality
4	HP:0030853	Heterotaxy
5	HP:0001696	Situs inversus totalis

Disease Causing ClinVar Variants