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:
expandCraniofacial Abnormalities (D019465)
Parent Node:
expandDysostoses (D004413)
Parent Node:
expandMacrostomia (D008265)
..Starting node
..expandMandibulofacial Dysostosis with Macroblepharon and Macrostomia (C566520)

       Child Nodes:



 Sister Nodes: 
..expandAblepharon macrostomia syndrome (C535557)
..expandBarber Say syndrome (C537908)
..expandMandibulofacial Dysostosis with Macroblepharon and Macrostomia (C566520)
   

Human Disease MESH is developed by UMLS.
Further data from MedGen, OMIM, CTD
Term ID:6768
Name:Mandibulofacial Dysostosis with Macroblepharon and Macrostomia
Definition:
Alternative IDs:
ParentIDs:MESH:D004413|MESH:D008265|MESH:D019465
TreeNumbers:C05.116.099.370/C566520 |C05.660.207/C566520 |C07.465.525.480/C566520 |C07.650.525.480/C566520 |C16.131.621.207/C566520 |C16.131.850.525.480/C566520
Synonyms:
Slim Mappings:Congenital abnormality|Mouth disease|Musculoskeletal disease
Reference: MedGen: C566520
MeSH: C566520
OMIM: 602562;

Genes:
Phenotypes
1 HP:0000463Anteverted nares
2 HP:0000509Conjunctivitis
3 HP:0007957Corneal opacity
4 HP:0000494Downslanted palpebral fissures
5 HP:0012368Flat face
6 HP:0000316Hypertelorism
7 HP:0000491Keratitis
8 HP:0000239Large fontanelles
9 HP:0000637Long palpebral fissure
10 HP:0000343Long philtrum
11 HP:0005321Mandibulofacial dysostosis
12 HP:0000347Micrognathia
13 HP:0008551Microtia
14 HP:0000677Oligodontia
15 HP:0000358Posteriorly rotated ears
16 HP:0000403Recurrent otitis media
17 HP:0000311Round face
18 HP:0000319Smooth philtrum
19 HP:0003745Sporadic
20 HP:0000664Synophrys
21 HP:0000574Thick eyebrow
22 HP:0000154Wide mouth
23 HP:0000431Wide nasal bridge
Disease Causing ClinVar Variants