MCID: HMR015
MIFTS: 13

Humeroradial Synostosis malady

Rare diseases category

Aliases & Classifications for Humeroradial Synostosis

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Aliases & Descriptions for Humeroradial Synostosis:

Name: Humeroradial Synostosis 45 65
 
Ramer Ladda Syndrome 65


Classifications:



Summaries for Humeroradial Synostosis

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MalaCards based summary: Humeroradial Synostosis, also known as ramer ladda syndrome, is related to synostosis and lenz-majewski hyperostotic dwarfism, and has symptoms including autosomal dominant inheritanceand humeroradial synostosis. An important gene associated with Humeroradial Synostosis is FGFR2 (Fibroblast Growth Factor Receptor 2).

Related Diseases for Humeroradial Synostosis

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Graphical network of diseases related to Humeroradial Synostosis:



Diseases related to humeroradial synostosis

Symptoms for Humeroradial Synostosis

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HPO human phenotypes related to Humeroradial Synostosis:

id Description Frequency HPO Source Accession
1 autosomal dominant inheritance HP:0000006
2 humeroradial synostosis HP:0003041

Drugs & Therapeutics for Humeroradial Synostosis

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Interventional clinical trials:

Search ClinicalTrials, NIH Clinical Center for Humeroradial Synostosis

Genetic Tests for Humeroradial Synostosis

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Anatomical Context for Humeroradial Synostosis

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Animal Models for Humeroradial Synostosis or affiliated genes

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Publications for Humeroradial Synostosis

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Articles related to Humeroradial Synostosis:

idTitleAuthorsYear
1
Congenital humeroradial synostosis: a case report. (25279074)
2012
2
Congenital humeroradial synostosis. (20535461)
2010
3
FGFR2 mutation in a patient with Apert syndrome associated with humeroradial synostosis. (15041782)
2003
4
Humeroradial synostosis and the multiple synostosis syndrome: case report. (12703033)
2003
5
Humeroradial synostosis, ulnar aplasia and oligodactyly, with contralateral amelia, in a child with prenatal cocaine exposure. (12476458)
2003
6
Genetic nosology and counseling of humeroradial synostosis. (7811427)
1994
7
Humeroradial synostosis. (6841611)
1983
8
Congenital symmetrical humeroradial synostosis. (4522661)
1974
9
Humeroradial synostosis. A case report. (4763940)
1973
10
Congenital humeroradial synostosis with other synostotic anomalies. (20268817)
1947

Variations for Humeroradial Synostosis

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Expression for genes affiliated with Humeroradial Synostosis

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Search GEO for disease gene expression data for Humeroradial Synostosis.

Pathways for genes affiliated with Humeroradial Synostosis

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GO Terms for genes affiliated with Humeroradial Synostosis

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Sources for Humeroradial Synostosis

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet