Disease browser and phenotype portal

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MSeqDR-LSDB
Tools
- Quick-Mitome for WES
- Quick-Mitome
- Quick-Mitome Report
- mtDNA Tool:
- mvTool
- Phy-Mer
- MToolBox
- mvTool for Haplogroup
- mvTool with HmtDB
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- MitoTIP tRNA Scoring
- MSeq-OpenCGA
- Variant Tool:
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- HBCR Exome (Retired)
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- Data - Awsomics GeEx
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- Pedigree Maker
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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: Eye Abnormalities (D005124)
Parent Node: Glaucoma, Open-Angle (D005902)
Parent Node: Infant, Newborn, Diseases (D007232)
..Starting node ..Hydrophthalmos (D006871)
Child Nodes:
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:	5318
Name:	Hydrophthalmos
Definition:	Congenital open-angle glaucoma that results from dysgenesis of the angle structures accompanied by increased intraocular pressure and enlargement of the eye. Treatment is both medical and surgical.
Alternative IDs:
ParentIDs:	MESH:D005124\|MESH:D005902\|MESH:D007232
TreeNumbers:	C11.250.480 \|C11.525.381.407.480 \|C16.131.384.480 \|C16.614.438
Synonyms:	Buphthalmos
Slim Mappings:	Congenital abnormality\|Eye disease\|Infant-newborn disease
Reference:	MedGen: D006871 MeSH: D006871 OMIM: Genes:
Phenotypes
Disease Causing ClinVar Variants