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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: Ectromelia (D004480)
..Starting node ..Absence of Tibia (C535563)
Child Nodes:
Sister Nodes:
..Absence of Tibia (C535563)
..Al Awadi syndrome (C535612)
..Amelia and Terminal Transverse Hemimelia (C566294)
..Amelia, Autosomal Recessive (C563338)
..DK Phocomelia Syndrome (C565618)
..Johnson Munson syndrome (C535881)
..Laurin-Sandrow syndrome (C535689)
..Madokoro Ohdo Sonoda syndrome (C537838)
..Mermaid syndrome (C538595)
..Polycystic Kidney Disease, Potter Type I, with Microbrachycephaly, Hypertelorism, and Brachymelia (C564881)
..Richieri Costa Da Silva syndrome (C535675)
..Roberts Syndrome (C535687)
..Rudd Klimek syndrome (C535879)
..Selig Benacerraf Greene syndrome (C535840)
..Tetra amelia with ectodermal dysplasia and lacrimal duct abnormalities (C536496)
..Tetra-amelia autosomal recessive (C536498)
..Tetra-amelia with pulmonary hypoplasia (C536499)
..Tetraamelia multiple malformations (C536500)
..Tetraphocomelia-Thrombocytopenia Syndrome (C564771)
..Tibia, Hypoplasia of, with Polydactyly (C566046)
..X-linked tetra-amelia (C536497)
..Yim Ebbin syndrome (C536713)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:

100

Name:

Absence of Tibia

Definition:

Alternative IDs:

OMIM:275220

ParentIDs:

MESH:D004480

TreeNumbers:

C05.660.585.350/C535563 |C16.131.621.585.350/C535563

Synonyms:

Bilateral absence of the tibia |THM |Tibia, absence of |Tibial hemimelia

Slim Mappings:

Congenital abnormality|Musculoskeletal disease

Reference:

MedGen: C535563
MeSH: C535563
OMIM: 275220;

Genes:

Phenotypes

1	HP:0000007	Autosomal recessive inheritance
2	HP:0000924	Abnormality of the skeletal system
3	HP:0009556	Absent tibia

Disease Causing ClinVar Variants