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 42 61
 
Ramer Ladda Syndrome 61


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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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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Sources for Humeroradial Synostosis

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2CDC
12ExPASy
13FDA
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
57SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet