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 59
Hereditary Thrombocytosis with Transverse Limb Defect 59
Familial Thrombocytosis with Transverse Limb Defect 59

Characteristics:

Orphanet epidemiological data:

59
thrombocythemia with distal limb defects
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

Classifications:



External Ids:

Orphanet 59 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:

41
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 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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