MCID: THR121
MIFTS: 7

Thrombocythemia with Distal Limb Defects

Categories: Blood diseases, Bone diseases, Fetal diseases, Genetic diseases, Rare diseases

Aliases & Classifications for Thrombocythemia with Distal Limb Defects

MalaCards integrated aliases for Thrombocythemia with Distal Limb Defects:

Name: Thrombocythemia with Distal Limb Defects 60
Hereditary Thrombocytosis with Transverse Limb Defect 60
Familial Thrombocytosis with Transverse Limb Defect 60

Characteristics:

Orphanet epidemiological data:

60
thrombocythemia with distal limb defects
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

Classifications:



External Ids:

Orphanet 60 ORPHA329319

Summaries for Thrombocythemia with Distal Limb Defects

MalaCards based summary : Thrombocythemia with Distal Limb Defects, is also known as hereditary thrombocytosis with transverse limb defect. An important gene associated with Thrombocythemia with Distal Limb Defects is THPO (Thrombopoietin). Affiliated tissues include bone.

Related Diseases for Thrombocythemia with Distal Limb Defects

Symptoms & Phenotypes for Thrombocythemia with Distal Limb Defects

Drugs & Therapeutics for Thrombocythemia with Distal Limb Defects

Search Clinical Trials , NIH Clinical Center for Thrombocythemia with Distal Limb Defects

Genetic Tests for Thrombocythemia with Distal Limb Defects

Anatomical Context for Thrombocythemia with Distal Limb Defects

MalaCards organs/tissues related to Thrombocythemia with Distal Limb Defects:

42
Bone

Publications for Thrombocythemia with Distal Limb Defects

Variations for Thrombocythemia with Distal Limb Defects

Expression for Thrombocythemia with Distal Limb Defects

Search GEO for disease gene expression data for Thrombocythemia with Distal Limb Defects.

Pathways for Thrombocythemia with Distal Limb Defects

GO Terms for Thrombocythemia with Distal Limb Defects

Sources for Thrombocythemia with Distal Limb Defects

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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