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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
罕见病
Permanent Congenital Hypothyroidism
Alias:
Congenital Hypothyroidism with Diffuse Goitre
Congenital Nontoxic Parenchymatous Goitre
Congenital Hypothyroidism Without Goitre
Congenital Thyroid Gland Insufficiency
Congenital Parenchymatous Struma
Congenital Parenchymatous Goitre
Congenital Thyroid Insufficiency
Thyroid Atrophy with Cretinism
Congenital Atrophy of Thyroid
Congenital Substernal Goitre
Congenital Nontoxic Goitre
Congenital Plunging Goitre
Congenital Thyroid Aplasia
Congenital Thyroid Atrophy
Congenital Diffuse Goitre
Congenital Diffuse Struma
Congenital Subthyroidism
Congenital Goitre Nos
Aplasia of Thyroid
Congenital Struma
Goitrous Cretin
Neonatal Struma
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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
永久性先天性甲状腺功能减退症,又称先天性弥漫性甲状腺肿伴甲状腺功能减退症,是原发性先天性甲状腺功能减退症和中枢性先天性甲状腺功能减退症的一种。相关组织包括甲状腺和舌。
Related ID:
MALACARDS:PRM315
ICD11:1756727158
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
常隐
新生儿
1-5/10000
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--
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PRM315
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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