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其它疾病

视神经萎缩、听力丧失和周围神经病变，常染色体隐性相关表型包括视觉障碍和视神经萎缩。 Optic Atrophy, Hearing Loss, and Peripheral Neuropathy, Autosomal Recessive

视神经萎缩、听力丧失和周围神经病变，常染色体隐性相关表型包括视觉障碍和视神经萎缩。 Optic Atrophy, Hearing Loss, and Peripheral Neuropathy, Autosomal Recessive

疾病英文名：Optic Atrophy, Hearing Loss, and Peripheral Neuropathy, Autosomal Recessive 疾病分类：非罕见…

其它疾病
2023-11-10 1,015
USH1M 是 Usher 综合征 1 型的另一种名称。与 USH1M 相关的重要基因是 ESPN (Espin)。相关表型包括左心室肥大和夜盲症。 USH1M – Usher Syndrome, Type 1m

USH1M 是 Usher 综合征 1 型的另一种名称。与 USH1M 相关的重要基因是 ESPN (Espin)。相关表型包括左心室肥大和夜盲症。 USH1M – Usher Syndrome, Type 1m

疾病英文名：USH1M - Usher Syndrome, Type 1m 疾病分类：罕见病 其它疾病 眼科疾病 其他别名：Ush1m Usher Syndrome 1m 疾病简介…

其它疾病
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先天性小耳畸形、听力障碍和腭裂，也称为伴有或不伴有听力障碍的小耳畸形。与先天性小耳畸形、听力障碍和腭裂有关的重要基因是HOXA2（家盒子A2）。相关组织包括皮肤，相关表型为小耳畸形和腭裂 MCRT – Microtia, Hearing Impairment, and Cleft Palate

先天性小耳畸形、听力障碍和腭裂，也称为伴有或不伴有听力障碍的小耳畸形。与先天性小耳畸形、听力障碍和腭裂有关的重要基因是HOXA2（家盒子A2）。相关组织包括皮肤，相关表型为小耳畸形和腭裂 MCRT – Microtia, Hearing Impairment, and Cleft Palate

疾病英文名：MCRT - Microtia, Hearing Impairment, and Cleft Palate 疾病分类：罕见病 骨骼肌类疾病 其它疾病 其他别名：Micr…

其它疾病
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发育性和癫痫性脑病46，也称为婴儿早期癫痫性脑病46。与发育性和癫痫性脑病46有关的重要基因是GRIN2D（谷氨酸离子型受体NMDA亚单位2D）。附属组织包括大脑，相关表型包括脑萎缩和癫痫。 DEE46 – Developmental and Epileptic Encephalopathy 46

发育性和癫痫性脑病46，也称为婴儿早期癫痫性脑病46。与发育性和癫痫性脑病46有关的重要基因是GRIN2D（谷氨酸离子型受体NMDA亚单位2D）。附属组织包括大脑，相关表型包括脑萎缩和癫痫。 DEE46 – Developmental and Epileptic Encephalopathy 46

疾病英文名：DEE46 - Developmental and Epileptic Encephalopathy 46 疾病分类：罕见病 肿瘤类疾病 其它疾病 其他别名：Epile…

其它疾病
2023-11-10 258
先天性聋，常染色体显性36，也被称为dfna36，与先天性聋，常染色体隐性7和非综合征性听力损失有关，其症状包括耳鸣。与先天性聋，常染色体显性36有关的重要基因是TMC1（跨膜通道样1），其相关通路/超级通路包括嗅觉信号通路和纤毛景观。附属组织包括大脑，相关表型包括感音性听力障碍和耳鸣。 DFNA36 – Deafness, Autosomal Dominant 36

先天性聋，常染色体显性36，也被称为dfna36，与先天性聋，常染色体隐性7和非综合征性听力损失有关，其症状包括耳鸣。与先天性聋，常染色体显性36有关的重要基因是TMC1（跨膜通道样1），其相关通路/超级通路包括嗅觉信号通路和纤毛景观。附属组织包括大脑，相关表型包括感音性听力障碍和耳鸣。 DFNA36 – Deafness, Autosomal Dominant 36

疾病英文名：DFNA36 - Deafness, Autosomal Dominant 36 疾病分类：罕见病 心血管疾病 其它疾病 其他别名：Dfna36 Autosomal D…

其它疾病
2023-11-10 267
Hypomyelinating Leukodystrophy, also known as leukodystrophy, hypomyelinating, is related to leukodystrophy, hypomyelinating, 6 and spondyloepimetaphyseal dysplasia, x-linked, with hypomyelinating leukodystrophy. An important gene associated with Hypomyelinating Leukodystrophy is POLR3A (RNA Polymerase III Subunit A), and among its related pathways/superpathways are Pyrimidine metabolism and Sphingolipid metabolism. Affiliated tissues include spinal cord and cerebellum, and related phenotypes are Decreased HIV-1 infection and homeostasis/metabolism. Hypomyelinating Leukodystrophy, also known as leukodystrophy, hypomyelinating, is related to leukodystrophy, hypomyelinating, 6 and spondyloepimetaphyseal dysplasia, x-linked, with hypomyelinating leukodystrophy. An important gene associated with Hypomyelinating Leukodystrophy is POLR3A (RNA Polymerase III Subunit A), and among its related pathways/superpathways are Pyrimidine metabolism and Sphingolipid metabolism. Affiliated tissues include spinal cord and cerebellum, and related phenotypes are Decreased HIV-1 infection and homeostasis/metabolism. Hypomyelinating Leukodystrophy, also known as leukodystrophy, hypomyelinating, is related to leukodystrophy, hypomyelinating, 6 and spondyloepimetaphyseal dysplasia, x-linked, with hypomyelinating leukodystrophy. An important gene associated with Hypomyelinating Leukodystrophy is POLR3A (RNA Polymerase III Subunit A), and among its related pathways/superpathways are Pyrimidine metabolism and Sphingolipid metabolism. Affiliated tissues include spinal cord and cerebellum, and related phenotypes are Decreased HIV-1 infection and homeostasis/metabolism. Hypomyelinating Leukodystrophy, also known as leukodystrophy, hypomyelinating, is related to leukodystrophy, hypomyelinating, 6 and spondyloepimetaphyseal dysplasia, x-linked, with hypomyelinating leukodystrophy. An HLD – Hypomyelinating Leukodystrophy

Hypomyelinating Leukodystrophy, also known as leukodystrophy, hypomyelinating, is related to leukodystrophy, hypomyelinating, 6 and spondyloepimetaphyseal dysplasia, x-linked, with hypomyelinating leukodystrophy. An important gene associated with Hypomyelinating Leukodystrophy is POLR3A (RNA Polymerase III Subunit A), and among its related pathways/superpathways are Pyrimidine metabolism and Sphingolipid metabolism. Affiliated tissues include spinal cord and cerebellum, and related phenotypes are Decreased HIV-1 infection and homeostasis/metabolism. Hypomyelinating Leukodystrophy, also known as leukodystrophy, hypomyelinating, is related to leukodystrophy, hypomyelinating, 6 and spondyloepimetaphyseal dysplasia, x-linked, with hypomyelinating leukodystrophy. An important gene associated with Hypomyelinating Leukodystrophy is POLR3A (RNA Polymerase III Subunit A), and among its related pathways/superpathways are Pyrimidine metabolism and Sphingolipid metabolism. Affiliated tissues include spinal cord and cerebellum, and related phenotypes are Decreased HIV-1 infection and homeostasis/metabolism. Hypomyelinating Leukodystrophy, also known as leukodystrophy, hypomyelinating, is related to leukodystrophy, hypomyelinating, 6 and spondyloepimetaphyseal dysplasia, x-linked, with hypomyelinating leukodystrophy. An important gene associated with Hypomyelinating Leukodystrophy is POLR3A (RNA Polymerase III Subunit A), and among its related pathways/superpathways are Pyrimidine metabolism and Sphingolipid metabolism. Affiliated tissues include spinal cord and cerebellum, and related phenotypes are Decreased HIV-1 infection and homeostasis/metabolism. Hypomyelinating Leukodystrophy, also known as leukodystrophy, hypomyelinating, is related to leukodystrophy, hypomyelinating, 6 and spondyloepimetaphyseal dysplasia, x-linked, with hypomyelinating leukodystrophy. An HLD – Hypomyelinating Leukodystrophy

疾病英文名：HLD - Hypomyelinating Leukodystrophy 疾病分类：罕见病 其它疾病 眼科疾病 其他别名：Leukodystrophy, Hypomye…

其它疾病
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沃尔夫拉姆类似综合症，常染色体显性，也被称为沃尔夫拉姆类似综合症，与沃尔夫综合症1和3-甲基戊二酸尿症，类型III有关。与沃尔夫拉姆类似综合症，常染色体显性有关的重要基因是WFS1（沃尔夫拉姆ER跨膜糖蛋白）。附属组织包括眼睛和肾脏，相关表型为抑郁症和糖尿病。 WFSL – Wolfram-Like Syndrome, Autosomal Dominant

沃尔夫拉姆类似综合症，常染色体显性，也被称为沃尔夫拉姆类似综合症，与沃尔夫综合症1和3-甲基戊二酸尿症，类型III有关。与沃尔夫拉姆类似综合症，常染色体显性有关的重要基因是WFS1（沃尔夫拉姆ER跨膜糖蛋白）。附属组织包括眼睛和肾脏，相关表型为抑郁症和糖尿病。 WFSL – Wolfram-Like Syndrome, Autosomal Dominant

疾病英文名：WFSL - Wolfram-Like Syndrome, Autosomal Dominant 疾病分类：罕见病 其它疾病 内分泌类疾病 其他别名：Wolfram-L…

其它疾病
2023-11-10 764
Charcot-Marie-Tooth病和耳聋，也称为Charcot-Marie-Tooth病1e型，与Charcot-Marie-Tooth病1g型和X连锁显性Charcot-Marie-Tooth病1型有关。与Charcot-Marie-Tooth病和耳聋有关的一个重要基因是PMP22（周围髓蛋白22），其相关通路/超级通路包括神经嵴分化和tRNA氨基酰化。附属组织包括脊髓和大脑，相关表型包括神经传导速度降低和行走困难。 CMT1E – Charcot-Marie-Tooth Disease and Deafness

Charcot-Marie-Tooth病和耳聋，也称为Charcot-Marie-Tooth病1e型，与Charcot-Marie-Tooth病1g型和X连锁显性Charcot-Marie-Tooth病1型有关。与Charcot-Marie-Tooth病和耳聋有关的一个重要基因是PMP22（周围髓蛋白22），其相关通路/超级通路包括神经嵴分化和tRNA氨基酰化。附属组织包括脊髓和大脑，相关表型包括神经传导速度降低和行走困难。 CMT1E – Charcot-Marie-Tooth Disease and Deafness

疾病英文名：CMT1E - Charcot-Marie-Tooth Disease and Deafness 疾病分类：罕见病 其它疾病 致命性疾病 其他别名：Charcot-Ma…

其它疾病
2023-11-10 489
痉挛性截瘫32，常染色体隐性，也称为spg32，与环氧化物过敏和支气管扩张3有关。与痉挛性截瘫32，常染色体隐性有关的重要基因是SPG32（痉挛性截瘫32（常染色体隐性）），其相关通路/超级通路包括树突状细胞发育线谱通路和肺纤维化。附属组织包括大脑和脑桥，相关表型包括智力障碍、轻度和足弓。 SPG32 – Spastic Paraplegia 32, Autosomal Recessive

痉挛性截瘫32，常染色体隐性，也称为spg32，与环氧化物过敏和支气管扩张3有关。与痉挛性截瘫32，常染色体隐性有关的重要基因是SPG32（痉挛性截瘫32（常染色体隐性）），其相关通路/超级通路包括树突状细胞发育线谱通路和肺纤维化。附属组织包括大脑和脑桥，相关表型包括智力障碍、轻度和足弓。 SPG32 – Spastic Paraplegia 32, Autosomal Recessive

疾病英文名：SPG32 - Spastic Paraplegia 32, Autosomal Recessive 疾病分类：罕见病 骨骼肌类疾病 其它疾病 其他别名：Spg32 A…

其它疾病
2023-11-10 603
Mullerian Duct Aplasia, Unilateral Renal Agenesis, and Cervicothoracic Somite Anomalies, also known as murcs association, is related to vacterl association and renal hypodysplasia/aplasia 1. An important gene associated with Mullerian Duct Aplasia, Unilateral Renal Agenesis, and Cervicothoracic Somite Anomalies is GREB1L (GREB1 Like Retinoic Acid Receptor Coactivator), and among its related pathways/superpathways are Embryonic and Induced Pluripotent Stem Cells and Lineage-specific Markers and Markers of kidney cell lineage. Affiliated tissues include uterus and kidney, and related phenotypes are short neck and short stature. Mullerian管缺如、单侧肾缺如和颈胸椎体畸形，也称为murcs association，与vacterl association和肾发育不良/缺如有关。与Mullerian管缺如、单侧肾缺如和颈胸椎体畸形有关的重要基因是GREB1L（GREB1 Like Retinoic Acid Receptor Coactivator），其相关通路/超级通路包括胚胎和诱导多能干细胞、特异性标记物和肾细胞线粒标记物。附属组织包括子宫和肾脏，相关表型为短颈和短身材。 MURCS – Mullerian Duct Aplasia, Unilateral Renal Agenesis, and Cervicothoracic Somite Anomalies

Mullerian Duct Aplasia, Unilateral Renal Agenesis, and Cervicothoracic Somite Anomalies, also known as murcs association, is related to vacterl association and renal hypodysplasia/aplasia 1. An important gene associated with Mullerian Duct Aplasia, Unilateral Renal Agenesis, and Cervicothoracic Somite Anomalies is GREB1L (GREB1 Like Retinoic Acid Receptor Coactivator), and among its related pathways/superpathways are Embryonic and Induced Pluripotent Stem Cells and Lineage-specific Markers and Markers of kidney cell lineage. Affiliated tissues include uterus and kidney, and related phenotypes are short neck and short stature. Mullerian管缺如、单侧肾缺如和颈胸椎体畸形，也称为murcs association，与vacterl association和肾发育不良/缺如有关。与Mullerian管缺如、单侧肾缺如和颈胸椎体畸形有关的重要基因是GREB1L（GREB1 Like Retinoic Acid Receptor Coactivator），其相关通路/超级通路包括胚胎和诱导多能干细胞、特异性标记物和肾细胞线粒标记物。附属组织包括子宫和肾脏，相关表型为短颈和短身材。 MURCS – Mullerian Duct Aplasia, Unilateral Renal Agenesis, and Cervicothoracic Somite Anomalies

疾病英文名：MURCS - Mullerian Duct Aplasia, Unilateral Renal Agenesis, and Cervicothoracic Somit…

其它疾病
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