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 58
Hereditary Thrombocytosis with Transverse Limb Defect 58
Familial Thrombocytosis with Transverse Limb Defect 58

Characteristics:

Orphanet epidemiological data:

58
thrombocythemia with distal limb defects
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

Classifications:

Orphanet: 58  
Rare bone diseases
Developmental anomalies during embryogenesis
Rare haematological diseases


External Ids:

ICD10 via Orphanet 33 Q87.2
Orphanet 58 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).

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

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
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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