MCID: HMR015
MIFTS: 13

Humeroradial Synostosis malady

Rare diseases category

Aliases & Classifications for Humeroradial Synostosis

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Humeroradial Synostosis, Aliases & Descriptions:

Name: Humeroradial Synostosis 41 60
 
Ramer Ladda Syndrome 60


Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Rare diseases


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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Drug clinical trials:

Search ClinicalTrials for Humeroradial Synostosis

Search 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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Compounds for genes affiliated with Humeroradial Synostosis

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GO Terms for genes affiliated with Humeroradial Synostosis

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Products for genes affiliated with Humeroradial Synostosis

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies
  • Proteins
  • Kits and Assays

Sources for Humeroradial Synostosis

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet