Mandibulofacial dysostosis

Symptom Information:

Symptom ID: HPO:0005321
Synonyms:
Mandibulofacial dysostosis [OMIM:Mandibulofacial dysostosis]
Mandibulofacial dysostosis [MedDRA:10051456]
Quality:
Cross references:
OMIM: "Mandibulofacial dysostosis" [OMIM:Mandibulofacial dysostosis]
Is a (Direct Parents):
MedDRA Musculoskeletal and connective tissue disorders of face, neck and jaw congenital
HPO         Craniofacial dysostosis
Is a (Whole tree): HPO:
All(HPO:0000001)
    Phenotypic abnormality(HPO:0000118)
       Abnormality of head or neck(HPO:0000152)
          Abnormality of the head(HPO:0000234)
             Abnormality of the face(HPO:0000271)
                Craniofacial dysostosis(HPO:0004439)
                   Mandibulofacial dysostosis(HPO:0005321)
             Abnormality of the skull(HPO:0000929)
                Craniofacial dysostosis(HPO:0004439)
                   Mandibulofacial dysostosis(HPO:0005321)
       Abnormality of the skeletal system(HPO:0000924)
          Abnormality of skeletal morphology(HPO:0011842)
             Abnormal axial skeleton morphology(HPO:0009121)
                Abnormality of the skull(HPO:0000929)
                   Craniofacial dysostosis(HPO:0004439)
                      Mandibulofacial dysostosis(HPO:0005321)
MedDRA:
Musculoskeletal and connective tissue disorders(MedDRA:10028395)
    Musculoskeletal and connective tissue disorders congenital(MedDRA:10028396)
       Musculoskeletal and connective tissue disorders of face, neck and jaw congenital(MedDRA:10028380)
          Mandibulofacial dysostosis(HPO:0005321)
Database Frequency: 7 / 7739
Resource:

All diseases associated with this symptom:

DIAMOND-BLACKFAN ANEMIA 10 (OMIM:613309)
MANDIBULOFACIAL DYSOSTOSIS WITH MENTAL DEFICIENCY (OMIM:248400)
MANDIBULOFACIAL DYSOSTOSIS WITH PTOSIS, AUTOSOMAL DOMINANT (OMIM:608257)
Mandibulofacial dysostosis - macroblepharon - macrostomia (Orphanet:357158)
Mandibulofacial dysostosis-microcephaly syndrome (Orphanet:79113)
Patterson-Stevenson-Fontaine syndrome (Orphanet:2439)
TREACHER COLLINS SYNDROME 3 (OMIM:248390)