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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: Anetoderma (D057088)
Parent Node: Brachydactyly (D059327)
Parent Node: Exostoses (D005096)
..Starting node ..Exostoses with Anetodermia and Brachydactyly, Type E (C565034)
Child Nodes:
Sister Nodes:
..Exostoses with Anetodermia and Brachydactyly, Type E (C565034)
..Exostoses, Multiple Hereditary (D005097) 14
..Heel Spur (D036982)
..Osteophyte (D054850)
..Subungual exostoses (C535723)
..Torus Palatinus and Torus Mandibularis (C566043)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:

4030

Name:

Exostoses with Anetodermia and Brachydactyly, Type E

Definition:

Alternative IDs:

ParentIDs:

MESH:D005096|MESH:D057088|MESH:D059327

TreeNumbers:

C05.116.540.310/C565034 |C05.660.585.262/C565034 |C16.131.621.585.262/C565034 |C17.300.116/C565034 |C17.800.804.108/C565034

Synonyms:

Slim Mappings:

Congenital abnormality|Connective tissue disease|Musculoskeletal disease|Skin disease

Reference:

MedGen: C565034
MeSH: C565034
OMIM: 133690;

Genes:

Phenotypes

1	HP:0000006	Autosomal dominant inheritance
2	HP:0004334	Dermal atrophy
3	HP:0002762	Multiple exostoses
4	HP:0005863	Type E brachydactyly

Disease Causing ClinVar Variants