MSeqDR Mitochondrial Disease Portal


 
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Parent Node:
expandsyndromic corneal dystrophy (MONDO:0020215)
Parent Node:
expandsyndromic developmental defect of the eye (MONDO:0015218)
..Starting node
..expandophthalmomandibulomelic dysplasia ()

       Child Nodes:



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MONDO is developed by the Monarch Initiative. Human Disease MESH is developed by UMLS.
Further data from MedGen, OMIM,ClinVar, CTD
Term ID:8127
Name:ophthalmomandibulomelic dysplasia
Definition:Ophthalmomandibulomelic dysplasia is characterized by complete blindness due to corneal opacities, difficult mastication due to temporomandibular fusion and anomalies of the arms.
Alternative IDs:164900
ParentIDs:
TreeNumbers:
Synonyms:OMM syndrome; Omm syndrome; Ophthalmo-mandibulo-melic dysplasia; ophthalmomandibulomelic dysplasia; Pillay syndrome
Slim Mappings:
Reference: MedGen:
MeSH:
OMIM: 164900;
MSeqDR LSDB:  
Genes:
Phenotypes
1 HP:0000006Autosomal dominant inheritance
2 HP:0000765Abnormality of the thorax
3 HP:0000618Blindness
4 HP:0002673Coxa valga
5 HP:0006169Decreased mobility 3rd-5th fingers
6 HP:0003042Elbow dislocation
7 HP:0003038Fibular hypoplasia
8 HP:0006441Lateral humeral condyle aplasia
9 HP:0000485Megalocornea
10 HP:0003027Mesomelia
11 HP:0007759Opacification of the corneal stroma
12 HP:0002986Radial bowing
13 HP:0006439Radioulnar dislocation
14 HP:0012478Temporomandibular joint ankylosis
15 HP:0006055Ulnar deviated club hands
Disease Causing ClinVar Variants
MSeqDR Portal