MetaADEDB: ADE

MetaADEDB 2.0 @ LMMD

Genetic Diseases, Inborn

(UMLS:C0950123)

Definition:: Diseases that are caused by genetic mutations present during embryo or fetal development, although they may be observed later in life. The mutations may be inherited from a parent's genome or they may be acquired in utero.
UMLS ID:: C0950123
MeSH ID:: D030342

Classification:

Name:

Congenital, Hereditary, and Neonatal Diseases and Abnormalities
MeSH Tree Number(s):: C16.320

Synonym(s)

Genetic Diseases, Inborn

inborn genetic disease

Associated Drug(s)

	Name	Reference(s)	Data Source
1	Azathioprine	10424251	CTD
2	Diethylhexyl Phthalate	31211961	CTD
3	Streptomycin	2736791	CTD
4	glyphosate	31011160	CTD

Similar ADE(s)

	Name	Semantic Similarity
1	Deformity	33.3%
2	Abdominal Cramps	23.1%
3	Abnormalities, Drug-Induced	23.1%
4	Amniotic Band Syndrome	23.1%
5	Asphyxia Neonatorum	23.1%
6	Infant, Premature, Diseases	23.1%
7	Situs Inversus	23.1%
8	Infantile Colic	23.1%
9	Fetal Diseases	21.1%
10	Prune Belly Syndrome	18.5%
11	Twins, Conjoined	18.5%
12	Waardenburg Syndrome	18.5%
13	Beckwith-Wiedemann Syndrome	17.5%
14	Wolf-Hirschhorn Syndrome	17.5%
15	Anencephaly	16.5%
16	Holoprosencephaly	16.1%
17	Eye Abnormalities	15.8%
18	Cardiovascular Abnormalities	15.8%
19	Xeroderma	15.5%
20	Mobius Syndrome	15.5%
21	Skin Abnormalities	15%
22	Lymphatic Abnormalities	15%
23	Congenital Microtia	15%
24	Anemia, Neonatal	14.6%
25	Persistent Fetal Circulation Syndrome	14.6%
26	Congenital diaphragmatic hernia	14.5%
27	Umbilical hernia	14.4%
28	Meconium Aspiration Syndrome	14.3%
29	Smith-Magenis syndrome	14.1%
30	Cri-du-Chat Syndrome	13.8%
31	Down Syndrome	13.8%
32	Trisomy 21	13.8%
33	Maxillofacial Abnormalities	13.3%
34	Dural Arteriovenous Fistula	13.3%
35	Dextrocardia	13.1%
36	Rubinstein-Taybi Syndrome	12.2%
37	Anophthalmos	12.2%
38	Anus, Imperforate	12.2%
39	Hydranencephaly	12.2%
40	Microphthalmos	12.2%
41	Neural Tube Defects	12.2%
42	Paralysis, Obstetric	12.2%
43	Retinopathy of Prematurity	12.2%
44	Tethered Cord Syndrome	12.2%
45	Iniencephaly	12.2%
46	Craniorachischisis	12.2%
47	Limb Deformities, Congenital	12.2%
48	Exencephaly	12.2%
49	Septo-Optic Dysplasia	12.2%
50	Craniofacial Abnormalities	12.2%
51	Cortical Dysplasia	12.2%
52	Malformations of Cortical Development	12.2%
53	Anorectal Malformations	12.2%
54	Bloom Syndrome	11.9%
55	Microcephaly	11.9%
56	Macrocephaly	11.9%
57	Bronchopulmonary Dysplasia	11.8%
58	Urogenital Abnormalities	11.5%
59	Ectodermal Dysplasia	11.5%
60	Aplasia Cutis Congenita	11.5%
61	Porencephaly	11.4%
62	Prader-Willi Syndrome	11.4%
63	Neonatal Abstinence Syndrome	11.1%
64	Fetal Growth Retardation	10.7%
65	Fetal Hypoxia	10.6%
66	Congenital nystagmus	10.6%
67	Fetal Alcohol Spectrum Disorders	10.6%
68	Amelia	10.6%
69	Arachnodactyly	10.6%
70	Ectopia Cordis	10.6%
71	Ectromelia	10.6%
72	Hemimelia	10.6%
73	Meningomyelocele	10.6%
74	Phocomelia	10.6%
75	Sirenomelia	10.6%
76	Spina Bifida	10.6%
77	Polydactyly	10.6%
78	Brachydactyly	10.6%
79	Plagiocephaly	10.6%
80	Lower Extremity Deformities, Congenital	10.6%
81	Upper Extremity Deformities, Congenital	10.6%
82	Single umbilical artery	10.6%
83	Toxoplasmosis, Congenital	10.5%
84	Aicardi's syndrome	10.4%
85	Syphilis, Congenital	10.4%
86	Craniosynostosis	10.1%
87	Syndactyly	10.1%
88	Brachycephaly	10.1%
89	Acrocephalosyndactylia	10.1%
90	Dermal Sinus	9.8%
91	Spina Bifida Cystica	9.8%
92	Spina Bifida Occulta	9.8%
93	Lissencephaly	9.8%
94	Polymicrogyria	9.8%
95	Pachygyria	9.8%
96	Schizencephaly	9.8%
97	Periventricular Nodular Heterotopia	9.8%
98	Scimitar Syndrome	9.5%
99	Poland Syndrome	9.4%
100	Kartagener Syndrome	9.4%
101	Classical Lissencephalies and Subcortical Band Heterotopias	9.3%
102	Blepharophimosis	9.1%
103	Laryngostenosis	9.1%
104	Mouth Abnormalities	9.1%
105	Respiratory Distress Syndrome, Newborn	9.1%
106	Esophageal Atresia	8.9%
107	Intestinal Atresia	8.9%
108	Horseshoe Kidney	8.9%
109	CHARGE Syndrome	8.9%
110	Pectus excavatum	8.9%
111	Klippel-Feil Syndrome	8.8%
112	Gastroschisis	8.8%
113	Synostosis	8.8%
114	Cystic Fibrosis	8.8%
115	Noonan Syndrome	8.8%
116	Acrodermatitis	8.8%
117	Lymphangiectasis, Intestinal	8.8%
118	Gianotti-Crosti Syndrome	8.8%
119	Jaw Abnormalities	8.6%
120	Cleft Palate	8.6%
121	Congenital Hyperinsulinism	8.5%
122	Chorioamnionitis	8.4%
123	Hyperkeratosis, Epidermolytic	8.3%
124	Marfan Syndrome	8.2%
125	Turner Syndrome	8.1%
126	Micrognathism	8%
127	Pierre Robin Syndrome	8%
128	Aortic coarctation	7.8%
129	Cor Triatriatum	7.8%
130	Coronary Vessel Anomalies	7.8%
131	Dental Enamel Hypoplasia	7.8%
132	Patent ductus arteriosus	7.8%
133	Ebstein Anomaly	7.8%
134	Heart Septal Defects	7.8%
135	Hyaline Membrane Disease	7.8%
136	Hypodontia	7.8%
137	Macrostomia	7.8%
138	Meningocele	7.8%
139	Microstomia	7.8%
140	Tetralogy of Fallot	7.8%
141	Transposition of Great Vessels	7.8%
142	Hypoplastic Left Heart Syndrome	7.8%
143	May-Thurner Syndrome	7.8%
144	Encephalocele	7.8%
145	Craniofacial Dysostosis	7.8%
146	Wolff-Parkinson-White Syndrome	7.7%
147	Arthrogryposis	7.2%
148	Choanal Atresia	7.2%
149	Tracheobronchomegaly	7.2%
150	Laryngocele	7.2%
151	Aortopulmonary Septal Defect	7.2%
152	Double Outlet Right Ventricle	7.2%
153	Endocardial Cushion Defects	7.2%
154	Myocardial bridging	7.2%
155	Aorticopulmonary Septal Defect	7.2%
156	Choledochal Cyst	7.1%
157	Hermaphroditism	7.1%
158	Nail-Patella Syndrome	7.1%
159	Disorders of Sex Development	7.1%
160	Cryptorchidism	7%
161	Hypospadias	7%
162	Klinefelter Syndrome	7%
163	Central Nervous System Cysts	7%
164	Retrognathia	7%
165	Truncus Arteriosus, Persistent	6.9%
166	Dandy-Walker Syndrome	6.9%
167	Goldenhar Syndrome	6.9%
168	Abnormalities, Radiation-Induced	6.9%
169	Leukomalacia, Periventricular	6.8%
170	POEMS Syndrome	6.8%
171	Polycystic Kidney Diseases	6.8%
172	Williams Syndrome	6.8%
173	Nesidioblastosis	6.8%
174	Primary Ciliary Dyskinesia	6.8%
175	Ichthyosis, X-Linked	6.4%
176	Sjogren-Larsson Syndrome	6.3%
177	Prognathism	6.2%
178	Long QT Syndrome	6.2%
179	Platybasia	6.2%
180	Tricuspid Atresia	6.2%
181	Arrhythmogenic Right Ventricular Dysplasia	6.2%
182	Hyperandrogenism	6.2%
183	Gonadal Dysgenesis	6.2%
184	Bronchomalacia	6.2%
185	Adrenogenital Syndrome	6.2%
186	Tracheomalacia	6.2%
187	Ovotesticular Disorders of Sex Development	6.2%
188	Polycystic Kidney, Autosomal Dominant	6%
189	Alstrom Syndrome	6%
190	Retinal Dysplasia	6%
191	Laryngomalacia	6%
192	Aniridia	5.9%
193	Pectus carinatum	5.9%
194	Bladder Exstrophy	5.8%
195	Epispadias	5.8%
196	Ophthalmia Neonatorum	5.8%
197	Epidermolysis Bullosa	5.7%
198	Mandibulofacial Dysostosis	5.7%
199	Multicystic Dysplastic Kidney	5.7%
200	Romano-Ward Syndrome	5.7%
201	Talipes	5.6%
202	Congenital clubfoot	5.4%
203	Vertical Talus	5.4%
204	Charcot-Marie-Tooth Disease	5%
205	Antley-Bixler Syndrome Phenotype	5%
206	Fragile X Syndrome	5%
207	Kernicterus	4.9%
208	Cockayne Syndrome	4.9%
209	Smith-Lemli-Opitz Syndrome	4.8%
210	Pseudoxanthoma Elasticum	4.3%
211	Hydrops Fetalis	4.2%
212	Kallmann Syndrome	4.1%
213	Arteriovenous fistula	4.1%
214	Xeroderma Pigmentosum	3.8%
215	Basal Cell Nevus Syndrome	3.4%
216	Zellweger Syndrome	3%
217	Tuberous Sclerosis	2.9%
218	Refsum Disease	2.5%
219	Denys-Drash Syndrome	2.1%

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