MCID: JRG001
MIFTS: 7

Jorgenson Lenz Syndrome

Categories: Rare diseases

Aliases & Classifications for Jorgenson Lenz Syndrome

MalaCards integrated aliases for Jorgenson Lenz Syndrome:

Name: Jorgenson Lenz Syndrome 52 71
Mild Short Stature, Microcephaly, Ptosis-Blepharophimosis, Facial Asymmetry, and Radioulnar Synostosis 52
Ptosis, Prognathism, Microcephaly, Radio-Ulnar Synostosis, Short Stature/dwarfism 52
Blepharophimosis Radioulnar Synostosis 52

Classifications:



External Ids:

UMLS 71 C2931162

Summaries for Jorgenson Lenz Syndrome

MalaCards based summary : Jorgenson Lenz Syndrome, also known as mild short stature, microcephaly, ptosis-blepharophimosis, facial asymmetry, and radioulnar synostosis, is related to obsolete: blepharophimosis-radioulnar synostosis syndrome and radioulnar synostosis.

Related Diseases for Jorgenson Lenz Syndrome

Diseases related to Jorgenson Lenz Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 obsolete: blepharophimosis-radioulnar synostosis syndrome 11.5
2 radioulnar synostosis 10.7
3 ptosis 10.7
4 blepharophimosis 10.7
5 microcephaly 10.7
6 synostosis 10.7

Graphical network of the top 20 diseases related to Jorgenson Lenz Syndrome:



Diseases related to Jorgenson Lenz Syndrome

Symptoms & Phenotypes for Jorgenson Lenz Syndrome

Drugs & Therapeutics for Jorgenson Lenz Syndrome

Search Clinical Trials , NIH Clinical Center for Jorgenson Lenz Syndrome

Genetic Tests for Jorgenson Lenz Syndrome

Anatomical Context for Jorgenson Lenz Syndrome

Publications for Jorgenson Lenz Syndrome

Articles related to Jorgenson Lenz Syndrome:

# Title Authors PMID Year
1
Mild short stature, microcephaly, ptosis-blepharophimosis, facial asymmetry, and radioulnar synostosis. 61
6590784 1983

Variations for Jorgenson Lenz Syndrome

Expression for Jorgenson Lenz Syndrome

Search GEO for disease gene expression data for Jorgenson Lenz Syndrome.

Pathways for Jorgenson Lenz Syndrome

GO Terms for Jorgenson Lenz Syndrome

Sources for Jorgenson Lenz Syndrome

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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