Disease browser and phenotype portal

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MSeqDR-LSDB
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Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

Hearing Loss Disease Portal

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Most Common: Hearing Loss (D034381), Deafness (D003638), Sensorineural HL (D006319), Waardenburg Syndrome, Usher Syndromes

Disease Browser
Parent Node: Hernia, Ventral (D006555)
Parent Node: Infant, Newborn, Diseases (D007232)
..Starting node ..Hernia, Umbilical (D006554)
Child Nodes:
........AXENFELD-RIEGER SYNDROME, TYPE 1 (OMIM:180500)
........Omphalocele cleft palate syndrome lethal (C537747)
........Omphalocele exstrophy imperforate anus (C537748)
........Omphalocele, Diaphragmatic Hernia, And Radial Ray Defects (C563701)
........Pseudodiastrophic dysplasia (C535826)
........Shprintzen omphalocele syndrome (C537329)
Sister Nodes:
..Amniotic Band Syndrome (D000652) 3
..Anemia, Neonatal (D000751) 2
..Asphyxia Neonatorum (D001238) 1
..Birth Injuries (D001720) 1
..Carnitine Palmitoyltransferase II Deficiency, Lethal Neonatal (C563463)
..Congenital Hyperinsulinism (D044903) 2
..Cutis Laxa-Marfanoid Syndrome (C563639)
..Cystic Fibrosis (D003550) 4
..Developmental Delay, Epilepsy, and Neonatal Diabetes (C565253)
..Diabetes Mellitus, Transient Neonatal, 1 (C563322)
..Diabetes Mellitus, Transient Neonatal, 2 (C563672)
..Epilepsy, Benign Neonatal (D020936) 13
..Erythroblastosis, Fetal (D004899) 7
..Hernia, Umbilical (D006554) 6
..Hydrophthalmos (D006871)
..Hyperbilirubinemia, Neonatal (D051556) 4
..Hypercalcemia, Idiopathic, of Infancy (C562581)
..Hyperglycinemia, Transient Neonatal (C562672)
..Hyperostosis, Cortical, Congenital (D006958) 6
..Hyperparathyroidism, Neonatal Severe Primary (C563375)
..Hypoglycemia, Neonatal, Simulating Foetopathia Diabetica (C565484)
..Ichthyosis (D007057) 66
..Infant, Premature, Diseases (D007235) 14
..Meconium Aspiration Syndrome (D008471)
..Mobius Syndrome (D020331) 4
..Neonatal Abstinence Syndrome (D009357)
..Nystagmus, Congenital (D020417) 17
..Ophthalmia Neonatorum (D009878)
..Persistent Fetal Circulation Syndrome (D010547) 1
..Rothmund-Thomson Syndrome (D011038) 5
..Sclerema Neonatorum (D012593)
..Severe Combined Immunodeficiency (D016511) 22
..Syphilis, Congenital (D013590)
..Thanatophoric Dysplasia (D013796) 8
..Thrombocytopenia, Neonatal Alloimmune (D054098)
..Toxoplasmosis, Congenital (D014125)
..Vitamin K Deficiency Bleeding (D006475)
..Wolman Disease (D015223) 2
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:	5141
Name:	Hernia, Umbilical
Definition:	A HERNIA due to an imperfect closure or weakness of the umbilical ring. It appears as a skin-covered protrusion at the UMBILICUS during crying, coughing, or straining. The hernia generally consists of OMENTUM or SMALL INTESTINE. The vast majority of umbilical hernias are congenital but can be acquired due to severe abdominal distention.
Alternative IDs:
ParentIDs:	MESH:D006555\|MESH:D007232
TreeNumbers:	C16.614.378 \|C23.300.707.374.937.500
Synonyms:	Exomphalos \|Hernias, Umbilical \|Omphalocele \|Omphaloceles \|Umbilical Hernia \|Umbilical Hernias
Slim Mappings:	Infant-newborn disease\|Pathology (anatomical condition)
Reference:	MedGen: D006554 MeSH: D006554 OMIM: Genes:
Phenotypes
Disease Causing ClinVar Variants