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: Congenital Abnormalities (D000013)
..Starting node ..Situs Inversus (D012857)
Child Nodes:
........Dextrocardia (D003914) 10
........Fraser Jequier Chen syndrome (C535481)
........HETEROTAXY, VISCERAL, 5, AUTOSOMAL (OMIM:270100)
........Hypoglossia With Situs Inversus (C567567)
........Jeune syndrome situs inversus (C537572)
........Levocardia (D007979)
........Marfanoid Habitus with Situs Inversus (C563814)
........RENAL-HEPATIC-PANCREATIC DYSPLASIA 1 (OMIM:208540)
........Situs inversus totalis with cystic dysplasia of kidneys and pancreas (C536666)
Sister Nodes:
..Abnormalities, Drug-Induced (D000014) 8
..Abnormalities, Multiple (D000015) 715
..Abnormalities, Radiation-Induced (D000016)
..Abnormalities, Severe Teratoid (D009008) 6
..Absent breasts and nipples (C535565)
..Accessory pancreas (C536003)
..AICAR Transformylase Inosine Monophosphate Cyclohydrolase Deficiency (C563876)
..Aicardi Syndrome (D058540) 1
..Arrhinia (C537438)
..Atlanto-Axial Fusion (C538196)
..Aural Atresia, Congenital (C564321)
..Bile and Pancreatic Ducts, Complete Absence of (C564298)
..Brain Anomalies, Retardation, Ectodermal Dysplasia, Skeletal Malformations, Hirschsprung Disease, Ear/Eye Anomalies, Cleft Palate/Cryptorchidism, And (C564519)
..Cardiovascular Abnormalities (D018376) 331
..Caudal Duplication Anomaly (C564315)
..Chromosome Disorders (D025063) 160
..Congenital Microtia (D065817) 12
..Crane-Heise syndrome (C536452)
..Cryptotia, Familial (C565140)
..Deal Barratt Dillon syndrome (C538206)
..Digestive System Abnormalities (D004065) 78
..Eye Abnormalities (D005124) 208
..Gallbladder, Agenesis Of (C562564)
..Hereditary renal agenesis (C536482)
..Hernias, Diaphragmatic, Congenital (D065630) 7
..Hydrocephalus, Skeletal Anomalies, and Mental Disturbance (C563413)
..Laryngeal cleft (C537875)
..Laryngeal Web, Familial (C563636)
..Lymphatic Abnormalities (D044148) 10
..Mullerian aplasia (C537371) 1
..Musculoskeletal Abnormalities (D009139) 1165
..Nasal Bones, Absence of (C562753)
..Nervous System Malformations (D009421) 567
..Pancreas agenesis, dorsal (C538109)
..Patterson Stevenson syndrome (C536311) 1
..Renal and Mullerian Duct Hypoplasia (C564853)
..Respiratory System Abnormalities (D015619) 27
..Rhiny (C566708)
..Saito Kuba Tsuruta syndrome (C537226)
..Schlegelberger Grote syndrome (C536635)
..Situs Inversus (D012857) 19
..Skin Abnormalities (D012868) 358
..Sprengel deformity (C535802)
..Stomatognathic System Abnormalities (D018640) 329
..Stridor, Congenital (C563163)
..Thyroid Dysgenesis (D050033) 3
..Urogenital Abnormalities (D014564) 196
..Vagina, absence of (C536523)
..Vertebral fusion posterior lumbosacral blepharoptosis (C536344)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:	10261
Name:	Situs Inversus
Definition:	A congenital abnormality in which organs in the THORAX and the ABDOMEN are opposite to their normal positions (situs solitus) due to lateral transposition. Normally the STOMACH and SPLEEN are on the left, LIVER on the right, the three-lobed right lung is on the right, and the two-lobed left lung on the left. Situs inversus has a familial pattern and has been associated with a number of genes related to microtubule-associated proteins.
Alternative IDs:
ParentIDs:	MESH:D000013
TreeNumbers:	C16.131.810
Synonyms:	Inversus, Situs \|Situs Inversus Viscerum
Slim Mappings:	Congenital abnormality
Reference:	MedGen: D012857 MeSH: D012857 OMIM: Genes:
Phenotypes
Disease Causing ClinVar Variants