Disease browser and phenotype portal

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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

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

Disease Browser
Parent Node: Marfan Syndrome (D008382)
Parent Node: Situs Inversus (D012857)
..Starting node ..Marfanoid Habitus with Situs Inversus (C563814)
Child Nodes:
Sister 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)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:

6790

Name:

Marfanoid Habitus with Situs Inversus

Definition:

Alternative IDs:

ParentIDs:

MESH:D008382|MESH:D012857

TreeNumbers:

C05.116.099.674/C563814 |C14.240.400.725/C563814 |C14.280.400.725/C563814 |C16.131.077.550/C563814 |C16.131.240.400.720/C563814 |C16.131.810/C563814 |C16.320.540/C563814 |C17.300.500/C563814

Synonyms:

Slim Mappings:

Cardiovascular disease|Congenital abnormality|Connective tissue disease|Genetic disease (inborn)|Musculoskeletal disease

Reference:

MedGen: C563814
MeSH: C563814
OMIM: 609008;

Genes:

Phenotypes

1	HP:0001659	Aortic regurgitation
2	HP:0002616	Aortic root aneurysm
3	HP:0001166	Arachnodactyly
4	HP:0001519	Disproportionate tall stature
5	HP:0002816	Genu recurvatum
6	HP:0001187	Hyperextensibility of the finger joints
7	HP:0002808	Kyphosis
8	HP:0001132	Lens subluxation
9	HP:0000276	Long face
10	HP:0000303	Mandibular prognathia
11	HP:0001634	Mitral valve prolapse
12	HP:0002058	Myopathic facies
13	HP:0000545	Myopia
14	HP:0002870	Obstructive sleep apnea
15	HP:0000768	Pectus carinatum
16	HP:0005301	Persistent left superior vena cava
17	HP:0001642	Pulmonic stenosis
18	HP:0002650	Scoliosis
19	HP:0001696	Situs inversus totalis
20	HP:0003745	Sporadic

Disease Causing ClinVar Variants