Ophthalmomandibulomelic dysplasia

Ophthalmomandibulomelic dysplasia is characterized by complete blindness due to corneal opacities, difficult mastication due to temporomandibular fusion and anomalies of the arms.



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Total: 0 (papers)
  


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Matched Phenotype  Gene  Mutation  MeSH
Rank
(Similarity)		 PMID
(PMCID)
        

Phenotype(s) retrieved from Orphanet

    Total: 19

HPO ID Term Frequency
HP:0000618 Blindness Very frequent (99-80%)
HP:0001376 Limitation of joint mobility Very frequent (99-80%)
HP:0002974 Radioulnar synostosis Very frequent (99-80%)
HP:0002983 Micromelia Very frequent (99-80%)
HP:0003027 Mesomelia Very frequent (99-80%)
HP:0003042 Elbow dislocation Very frequent (99-80%)
HP:0004348 Abnormality of bone mineral density Very frequent (99-80%)
HP:0005048 Synostosis of carpal bones Very frequent (99-80%)
HP:0005446 Obtuse angle of mandible Very frequent (99-80%)
HP:0006055 Ulnar deviated club hands Very frequent (99-80%)
HP:0006439 Radioulnar dislocation Very frequent (99-80%)
HP:0006441 Lateral humeral condyle aplasia Very frequent (99-80%)
HP:0006501 Aplasia/Hypoplasia of the radius Very frequent (99-80%)
HP:0007957 Corneal opacity Very frequent (99-80%)
HP:0009773 Symphalangism affecting the phalanges of the hand Very frequent (99-80%)
HP:0012478 Temporomandibular joint ankylosis Very frequent (99-80%)
HP:0100490 Camptodactyly of finger Very frequent (99-80%)
HP:0000485 Megalocornea Occasional (29-5%)
HP:0000501 Glaucoma Occasional (29-5%)


Phenotype(s) retrieved from case reports

    Total: 0

HPO ID Term # of case reports


Causative gene(s) retrieved from Orphanet

    Total: 0

Gene Symbol Gene Name Entrez Gene ID