Tibia, Hypoplasia or Aplasia of, with Polydactyly (THYP)

Alias:
Tibial Hemimelia-Polysyndactyly-Triphalangeal Thumb Syndrome
Hypoplastic or Aplastic Tibia with Polydactyly
Absence of Tibia with Polydactyly
Absent Tibia-Polydactyly Syndrome
Tibial Hemimelia-Polydactyly-Triphalangeal Thumbs with Fibular Dimelia
Werner Mesomelic Syndrome
Werner Mesomelic Spectrum
Thyp
Hypoplastic Tibiae-Postaxial Polydactyly Syndrome
Tibia, Hypoplastic or Aplastic, with Polydactyly
Hypoplasia or Aplasia of Tibia with Polydactyly
Tibia, Hypoplasia of, with Polydactyly
Wms
Favorite
Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Tibia, Hypoplasia or Aplasia of, with Polydactyly, also known as tibial hemimelia-polysyndactyly-triphalangeal thumb syndrome, is related to triphalangeal thumb with polysyndactyly and polydactyly, preaxial ii. An important gene associated with Tibia, Hypoplasia or Aplasia of, with Polydactyly is LMBR1 (Limb Development Membrane Protein 1), and among its related pathways/superpathways are Development of ureteric collection system and Hedgehog signaling pathway. Affiliated tissues include bone and prefrontal cortex, and related phenotypes are short stature and patellar aplasia
Related ID:

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AD
Antenatal
--
12
132
21

Medical Symptom

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

Gene & Mutation

#
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!
Wechat
Comparison
Al agent
Tutorials
Back to top