Thanatophoric Dysplasia, Type Ii (TD2)

Alias:
Td2
Thanatophoric Dysplasia with Straight Femurs and Cloverleaf Skull
Cloverleaf Skull-Micromelic Bone Dysplasia Syndrome
Thanatophoric Dwarfism-Cloverleaf Skull Syndrome
Thanatophoric Dysplasia with Kleeblattschaedel
Cloverleaf Skull with Thanatophoric Dwarfism
Thanatophoric Dysplasia, Type 2
Thanatophoric Dysplasia Type 2
Thanatophoric Dwarfism Type 2
Dysplasia, Thanatophoric, Type Ii
Thanatophoric Dysplasia Type Ii
Thanatophoric Dysplasia 2
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Thanatophoric Dysplasia, Type Ii, also known as td2, is related to thanatophoric dysplasia, type i and kleeblattschaedel. An important gene associated with Thanatophoric Dysplasia, Type Ii is FGFR3 (Fibroblast Growth Factor Receptor 3). Affiliated tissues include bone and temporal lobe, and related phenotypes are macrocephaly and hypotonia
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Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AD
Newborn
--
1
30
14

Medical Symptom

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Categorization
Description
HPO Frequency
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HPO Source Accession
No data available

Gene & Mutation

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Related Drugs

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No data available

Disease Model

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Name
MGI
Related Gene
Strain of Origin
Publications
No data available

References Literature

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