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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: Ainhum (D000387)
Parent Node: Constriction, Pathologic (D003251)
..Starting node ..Pseudoainhum (C535821)
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:	9404
Name:	Pseudoainhum
Definition:
Alternative IDs:
ParentIDs:	MESH:D000387\|MESH:D003251
TreeNumbers:	C05.116.264.143/C535821 \|C23.300.287/C535821
Synonyms:
Slim Mappings:	Musculoskeletal disease\|Pathology (anatomical condition)
Reference:	MedGen: C535821 MeSH: C535821 OMIM: Genes:
Phenotypes
Disease Causing ClinVar Variants