loading...| Preferred Name |
Elsahy-Waters syndrome |
| Synonyms |
branchioskeletogenital syndrome |
| Definitions |
A syndrome that is characterized by brachycephaly, facial asymmetry, marked hypertelorism, proptosis, blepharochalasis, midface hypoplasia, broad nose with concave nasal ridge, and prognathism; radicular dentin dysplasia with consequent obliterated pulp chambers, apical translucent cysts, recurrent infections, and early loss of teeth; vertebral fusions, particularly at C2-C3; and moderate mental retardation. |
| ID |
http://purl.obolibrary.org/obo/DOID_0080631 |
| database_cross_reference |
ORDO:1299 OMIM:211380 GARD:955 |
| definition |
A syndrome that is characterized by brachycephaly, facial asymmetry, marked hypertelorism, proptosis, blepharochalasis, midface hypoplasia, broad nose with concave nasal ridge, and prognathism; radicular dentin dysplasia with consequent obliterated pulp chambers, apical translucent cysts, recurrent infections, and early loss of teeth; vertebral fusions, particularly at C2-C3; and moderate mental retardation. |
| has exact synonym |
branchioskeletogenital syndrome |
| has symptom | |
| has_obo_namespace |
disease_ontology |
| id |
DOID:0080631 |
| in_subset | |
| label |
Elsahy-Waters syndrome |
| notation |
DOID:0080631 |
| prefLabel |
Elsahy-Waters syndrome |
| subClassOf |