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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

Disease Browser
Parent Node: Hearing Loss, Conductive (D006314)
Parent Node: Mitral Valve Insufficiency (D008944)
..Starting node ..Mitral Regurgitation, Conductive Deafness, and Fusion of Cervical Vertebrae and of Carpal and Tarsal Bones (C563572)
Child Nodes:
Sister Nodes:
..Complete atrioventricular septal defect (C535974)
..Forney Robinson Pascoe syndrome (C537269)
..Mitral Regurgitation, Conductive Deafness, and Fusion of Cervical Vertebrae and of Carpal and Tarsal Bones (C563572)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:

7333

Name:

Mitral Regurgitation, Conductive Deafness, and Fusion of Cervical Vertebrae and of Carpal and Tarsal Bones

Definition:

Alternative IDs:

ParentIDs:

MESH:D006314|MESH:D008944

TreeNumbers:

C09.218.458.341.562/C563572 |C10.597.751.418.341.562/C563572 |C14.280.484.461/C563572 |C23.888.592.763.393.341.562/C563572

Synonyms:

Slim Mappings:

Cardiovascular disease|Ear-nose-throat disease|Nervous system disease|Signs and symptoms

Reference:

MedGen: C563572
MeSH: C563572
OMIM: 157800;

Genes:

Phenotypes

1	HP:0000006	Autosomal dominant inheritance
2	HP:0000164	Abnormality of the dentition
3	HP:0000478	Abnormality of the eye
4	HP:0000463	Anteverted nares
5	HP:0001156	Brachydactyly
6	HP:0009702	Carpal synostosis
7	HP:0000405	Conductive hearing impairment
8	HP:0010579	Cone-shaped epiphysis
9	HP:0008527	Congenital sensorineural hearing impairment
10	HP:0008734	Decreased testicular size
11	HP:0002750	Delayed skeletal maturation
12	HP:0001508	Failure to thrive
13	HP:0001480	Freckling
14	HP:0000293	Full cheeks
15	HP:0002949	Fused cervical vertebrae
16	HP:0002020	Gastroesophageal reflux
17	HP:0000085	Horseshoe kidney	HP:0040283
18	HP:0000316	Hypertelorism
19	HP:0001388	Joint laxity
20	HP:0000343	Long philtrum
21	HP:0001653	Mitral regurgitation
22	HP:0000358	Posteriorly rotated ears
23	HP:0010584	Pseudoepiphyses
24	HP:0000403	Recurrent otitis media
25	HP:0000902	Rib fusion
26	HP:0002650	Scoliosis
27	HP:0001773	Short foot
28	HP:0004322	Short stature
29	HP:0000486	Strabismus
30	HP:0100266	Synostosis of carpals/tarsals
31	HP:0008368	Tarsal synostosis
32	HP:0000506	Telecanthus
33	HP:0000582	Upslanted palpebral fissure
34	HP:0000076	Vesicoureteral reflux
35	HP:0000431	Wide nasal bridge

Disease Causing ClinVar Variants