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Hairy Elbows

Alias:
Hypertrichosis Cubiti
Macdermot-Patton-Williams Syndrome
Hairy Elbows Syndrome
Mac Dermot Patton Williams Syndrome
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Hairy Elbows, also known as hypertrichosis cubiti, is related to wiedemann-steiner syndrome and hypertrichosis. An important gene associated with Hairy Elbows is KMT2A (Lysine Methyltransferase 2A). Affiliated tissues include skin and bone, and related phenotypes are generalized hirsutism and micromelia
Related ID：
MALACARDS：HRY005
OMIM：139600

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AD
Child
<1/1000000
1
29
6
HRY005

Medical Symptom

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Categorization
Description
HPO Frequency
Orphanet Frequency
HPO Source Accession
No data available

Gene & Mutation

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Gene
Function
Score
Mutations
No data available

Related Drugs

Name
CAS Number
Status
Phase
No data available

Disease Model

Category
Name
MGI
Related Gene
Strain of Origin
Publications
No data available

References Literature

Title
PMID
Journal
Year
IF
No Data Found!
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