Isolated Growth Hormone Deficiency, Type Ii (IGHD2)

Alias:
Isolated Growth Hormone Deficiency Type Ii
Ighd Ii
Congenital Isolated Growth Hormone Deficiency Type Ii
Growth Hormone Deficiency, Isolated, Type Ii
Congenital Isolated Gh Deficiency Type Ii
Congenital Ighd Type Ii
Ighd2
Pituitary Dwarfism Due to Isolated Growth Hormone Deficiency, Autosomal Dominant
Autosomal Dominant Pituitary Dwarfism Due to Isolated Growth Hormone Deficiency
Pituitary Dwarfism Due to Isolated Growth Hormone Deficiency Autosomal Dominant
Growth Hormone Deficiency, Isolated, Autosomal Dominant
Autosomal Dominant Isolated Growth Hormone Deficiency
Growth Hormone Deficiency Isolated Autosomal Dominant
Autosomal Dominant Isolated Somatotropin Deficiency
Growth Hormone Deficiency, Isolated, 2
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Isolated Growth Hormone Deficiency, Type Ii, also known as isolated growth hormone deficiency type ii, is related to isolated growth hormone deficiency and growth hormone deficiency. An important gene associated with Isolated Growth Hormone Deficiency, Type Ii is GH1 (Growth Hormone 1), and among its related pathways/superpathways are Endochondral ossification with skeletal dysplasias and Hormonal control of pubertal growth spurt. Affiliated tissues include pituitary and b cells, and related phenotypes are scoliosis and severe short stature
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Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AD
Newborn
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17
106
51

Medical Symptom

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Categorization
Description
HPO Frequency
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HPO Source Accession
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Gene & Mutation

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Disease Model

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MGI
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Publications
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References Literature

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