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COL4A5 c.1390G>A
ALS1
DMD c.1332-11868C>G
TP53
肌萎缩侧索硬化症1型
USH2A c.8559-2A>G
囊性纤维化
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中文
非罕见病
Hyperthyroidism, Nonautoimmune (HTNA)
Alias:
Familial Hyperthyroidism Due to Mutations in Tsh Receptor
Hyperthyroidism, Nonautoimmune, Autosomal Dominant
Hyperthyroidism Non-Autoimmune Autosomal Dominant
Toxic Thyroid Hyperplasia, Autosomal Dominant
Toxic Thyroid Hyperplasia Autosomal Dominant
Hyperthyroidism, Congenital Nonautoimmune
Resistance to Thyroid Stimulating Hormone
Hyperthyroidism Congenital Non-Autoimmune
Congenital Nonautoimmune Hyperthyroidism
Familial Non-Immune Hyperthyroidism
Hyperthyroidism, Non-Autoimmune
Nonautoimmune Hyperthyroidism
Htna
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基础信息
疾病表征
基因 & 突变
靶点药物
疾病模型
文献报道
甲状腺机能亢进,非自身免疫性,也称为因tsh受体突变引起的家族性甲状腺机能亢进,与因tsh受体突变引起的家族性甲状腺机能亢进和先天性,非胶质性,1型甲状腺功能减退症有关。与甲状腺机能亢进,非自身免疫性相关的基因是TSHR(甲状腺刺激激素受体)。附属组织包括甲状腺和骨,相关表型为智力障碍和甲状腺机能亢进。
Related ID:
MALACARDS:HYP249
OMIM:609152
MESH:D006980
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
常显
未知
--
2
15
17
HYP249
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!
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