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:
expandAnodontia (D000848)
Parent Node:
expandAxenfeld-Rieger syndrome (C535679)
Parent Node:
expandDiseases (C)
Parent Node:
expandMaxillary Diseases (D008439)
..Starting node
..expandAXENFELD-RIEGER SYNDROME, TYPE 2 (OMIM:601499)

       Child Nodes:



 Sister Nodes: 
..expandAXENFELD-RIEGER SYNDROME, TYPE 2 (OMIM:601499)
..expandMaxillary Neoplasms (D008441)
   

Human Disease MESH is developed by UMLS.
Further data from MedGen, OMIM, CTD
Term ID:1109
Name:AXENFELD-RIEGER SYNDROME, TYPE 2
Definition:
Alternative IDs:
ParentIDs:MESH:C535679|MESH:D000848|MESH:D008439
TreeNumbers:C05.500.693/601499 |C07.320.660/601499 |C07.650.800.100/601499 |C07.793.700.100/601499 |C11.250/C535679/601499 |C16.131.384/C535679/601499 |C16.131.850.800.100/601499
Synonyms:RIEG2 |RIEGER SYNDROME, TYPE 2
Slim Mappings:Congenital abnormality|Eye disease|Mouth disease|Musculoskeletal disease
Reference: MedGen: 601499
MeSH: 601499
OMIM: 601499;

Genes: RIEG2;
Phenotypes
1 HP:0000006Autosomal dominant inheritance
2 HP:0001627Abnormal heart morphology
3 HP:0030680Abnormality of cardiovascular system morphology
4 HP:0002025Anal stenosis
5 HP:0007833Anterior chamber synechiae
6 HP:0000618Blindness
7 HP:0000028Cryptorchidism
8 HP:0000232Everted lower lip vermilion
9 HP:0000501Glaucoma
10 HP:0000365Hearing impairment
11 HP:0000238Hydrocephalus
12 HP:0000316Hypertelorism
13 HP:0000668Hypodontia
14 HP:0000327Hypoplasia of the maxilla
15 HP:0000047Hypospadias
16 HP:0000023Inguinal hernia
17 HP:0000303Mandibular prognathia
18 HP:0000482Microcornea
19 HP:0000691Microdontia
20 HP:0007759Opacification of the corneal stroma
21 HP:0000322Short philtrum
22 HP:0000506Telecanthus
23 HP:0001537Umbilical hernia
24 HP:0000431Wide nasal bridge
Disease Causing ClinVar Variants