HRS
MCID: RMR001
MIFTS: 23

Ramer Ladda Syndrome (HRS) malady

Bone diseases, Fetal diseases categories

Summaries for Ramer Ladda Syndrome

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Sources:
46OMIM, 32MalaCards
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MalaCards: Ramer Ladda Syndrome, also known as humero-radial synostosis, is related to synostosis and atrichia with papular lesions, and has symptoms including meningocele, tarsal anomaly/fusion/synostosis and thumb hypoplasia/aplasia/absence. Affiliated tissues include bone.

Description from OMIM:46 143050,236400

Aliases & Classifications for Ramer Ladda Syndrome

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Sources:
42NIH Rare Diseases, 60UMLS, 48Orphanet, 46OMIM, 26ICD10 via Orphanet, 57SNOMED-CT via Orphanet
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Fetal diseases
Anatomical: Bone diseases


Characteristics (Orphanet epidemiological data):

48
humero-radial synostosis:
Inheritance: Autosomal dominant,Autosomal recessive; Prevalence: <1/1000000; Age of onset: Variable


Aliases & Descriptions:

ramer ladda syndrome 42 60
humero-radial synostosis 42 48 46
humeroradial synostosis 42
hrs 42


External Ids:

ICD10 via Orphanet26 Q74.0
SNOMED-CT via Orphanet57 205329008

Related Diseases for Ramer Ladda Syndrome

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Sources:
17GeneCards, 18GeneDecks
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Graphical network of the top 20 diseases related to Ramer Ladda Syndrome:



Diseases related to ramer ladda syndrome

Clinical Features for Ramer Ladda Syndrome

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Sources:
46OMIM, 48Orphanet
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Clinical features from OMIM:

143050,236400

Clinical synopsis from OMIM:

143050

Symptoms:

48 (show all 12)
  • meningocele
  • tarsal anomaly/fusion/synostosis
  • thumb hypoplasia/aplasia/absence
  • wrist/carpal anomalies
  • retinoschisis/retinal/chorioretinal coloboma
  • coloboma of iris
  • anophthalmos/anophthalmia/microphthalmos/microphthalmia
  • microcephaly
  • elbow dislocation
  • autosomal dominant inheritance
  • restricted joint mobility/joint stiffness/ankylosis
  • humeroradial fusion

Drugs & Therapeutics for Ramer Ladda Syndrome

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Sources:
5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

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Drug clinical trials:

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Genetic Tests for Ramer Ladda Syndrome

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Anatomical Context for Ramer Ladda Syndrome

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Sources:
32MalaCards
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MalaCards organs/tissues related to Ramer Ladda Syndrome:

32
Bone

Animal Models for Ramer Ladda Syndrome or affiliated genes

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Publications for Ramer Ladda Syndrome

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Genetic Variations for Ramer Ladda Syndrome

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Expression for genes affiliated with Ramer Ladda Syndrome

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Sources:
15Gene Expression Omnibus DataSets
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Search GEO for disease gene expression data for Ramer Ladda Syndrome.

Pathways for genes affiliated with Ramer Ladda Syndrome

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Compounds for genes affiliated with Ramer Ladda Syndrome

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GO Terms for genes affiliated with Ramer Ladda Syndrome

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Products for genes affiliated with Ramer Ladda Syndrome

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Ramer Ladda Syndrome

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet