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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
Hypertrichosis, Congenital Generalized, with or Without Gingival Hyperplasia (HTC3)
Alias:
Gingival Fibromatosis-Hypertrichosis Syndrome
Hypertrichosis Terminalis, Generalized, with or Without Gingival Hyperplasia
Hypertrichosis with or Without Gingival Hyperplasia
Hirsutism-Congenital Gingival Hyperplasia Syndrome
Congenital Generalized Hypertrichosis Terminalis
Cght
Hypertrichosis, Congenital Generalized, with Gingival Hyperplasia
Chromosome 17q24.2-Q24.3 Duplication Syndrome
Fibromatosis, Gingival, with Hypertrichosis
Chromosome 17q24.2-Q24.3 Deletion Syndrome
Hirsutism Congenital Gingival Hyperplasia
Microduplication 17q24.2-Q24.3 Syndrome
Microdeletion 17q24.2-Q24.3 Syndrome
Fibromatosis Gingival Hypertrichosis
Htc3
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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
超毛症,先天性全身性,伴有或不伴有牙龈增生,也称为牙龈纤维瘤-超毛症综合征,与超毛症和纤维瘤,牙龈,伴有超毛症和智力迟钝有关。与超毛症,先天性全身性,伴有或不伴有牙龈增生有关的重要基因是ABCA5(ATP结合盒家族A成员5)。附属组织包括皮肤,相关表型为全身性多毛症和多毛症
Related ID:
MALACARDS:HYP728
OMIM:135400
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
常隐
常显
新生儿
--
1
3
13
HYP728
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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