Meier-Gorlin Syndrome 1 (MGORS1)

Alias:
Meier-Gorlin Syndrome
Ear, Patella, Short Stature Syndrome
Ear-Patella-Short Stature Syndrome
Microtia, Absent Patellae, Micrognathia Syndrome
Mgors1
Eps
Microtia Absent Patellae Micrognathia Syndrome
Ear Patella Short Stature Syndrome
Meier-Gorlin Syndrome, Type 1
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Meier-Gorlin Syndrome 1, also known as meier-gorlin syndrome, is related to meier-gorlin syndrome 7 and meier-gorlin syndrome 5. An important gene associated with Meier-Gorlin Syndrome 1 is ORC1 (Origin Recognition Complex Subunit 1), and among its related pathways/superpathways are Cell Cycle, Mitotic and Assembly of the pre-replicative complex. Affiliated tissues include bone and testes, and related phenotypes are failure to thrive and delayed skeletal maturation
Related ID:

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AR
AD
Antenatal
<1/1000000
62
309
24

Medical Symptom

#
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

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PMID
Journal
Year
IF
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