MCID: INT355
MIFTS: 7

Intercalary Limb Defects

Categories: Bone diseases, Fetal diseases, Rare diseases

Aliases & Classifications for Intercalary Limb Defects

MalaCards integrated aliases for Intercalary Limb Defects:

Name: Intercalary Limb Defects 58
Intercalary Meromelia 58

Classifications:

Orphanet: 58  
Rare bone diseases
Developmental anomalies during embryogenesis


External Ids:

Orphanet 58 ORPHA294927

Summaries for Intercalary Limb Defects

MalaCards based summary : Intercalary Limb Defects, also known as intercalary meromelia, is related to femoral agenesis/hypoplasia and obsolete: humeral agenesis/hypoplasia, bilateral. Affiliated tissues include bone.

Related Diseases for Intercalary Limb Defects

Diseases related to Intercalary Limb Defects via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 femoral agenesis/hypoplasia 11.4
2 obsolete: humeral agenesis/hypoplasia, bilateral 11.4
3 obsolete: humeral agenesis/hypoplasia, unilateral 11.4
4 obsolete: femoral agenesis/hypoplasia, bilateral 11.4
5 obsolete: femoral agenesis/hypoplasia, unilateral 11.4
6 humeral agenesis/hypoplasia 11.4

Graphical network of the top 20 diseases related to Intercalary Limb Defects:



Diseases related to Intercalary Limb Defects

Symptoms & Phenotypes for Intercalary Limb Defects

Drugs & Therapeutics for Intercalary Limb Defects

Search Clinical Trials , NIH Clinical Center for Intercalary Limb Defects

Genetic Tests for Intercalary Limb Defects

Anatomical Context for Intercalary Limb Defects

MalaCards organs/tissues related to Intercalary Limb Defects:

40
Bone

Publications for Intercalary Limb Defects

Articles related to Intercalary Limb Defects:

# Title Authors PMID Year
1
Limb/pelvis hypoplasia/aplasia with skull defect (Schinzel phocomelia): distinctive features and prenatal detection. 61
11746009 2001

Variations for Intercalary Limb Defects

Expression for Intercalary Limb Defects

Search GEO for disease gene expression data for Intercalary Limb Defects.

Pathways for Intercalary Limb Defects

GO Terms for Intercalary Limb Defects

Sources for Intercalary Limb Defects

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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