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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: Constriction, Pathologic (D003251)
..Starting node ..Lumbar Stenosis, Familial (C563613)
Child Nodes:
Sister Nodes:
..Calabro syndrome (C537960)
..Celiac Artery Stenosis from Compression by Median Arcuate Ligament of Diaphragm (C566151)
..Infundibulopelvic dysgenesis (C535528)
..Laryngotracheal Stenosis, Progressive, with Short Stature and Arthropathy (C566379)
..Lumbar Stenosis, Familial (C563613)
..Pseudoainhum (C535821)
..Tracheal agenesis (C536975)
..Tracheobronchial Stenosis, Congenital (C566362)
..Urethral obstruction sequence (C536477)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:

6557

Name:

Lumbar Stenosis, Familial

Definition:

Alternative IDs:

ParentIDs:

MESH:D003251

TreeNumbers:

C23.300.287/C563613

Synonyms:

Slim Mappings:

Pathology (anatomical condition)

Reference:

MedGen: C563613
MeSH: C563613
OMIM: 152550;

Genes:

Phenotypes

1	HP:0000006	Autosomal dominant inheritance
2	HP:0004610	Lumbar spinal canal stenosis

Disease Causing ClinVar Variants