Absent uvula

Symptom Information:

Symptom ID: HPO:0010292
Synonyms:
Congenital absence of uvula [HPO:0010292]
Uvula aplasia [HPO:0010292]
Congenital absence of uvula (disorder) [Orphanet:11750]
Congenital absence of uvula [Orphanet:11750]
Uvula aplasia [Orphanet:11750]
Absent uvula [OMIM:Absent uvula]
Hypoplastic/aplastic uvula [Orphanet:11750]
Uvula aplasia [MedDRA:10053506]
Quality:
Cross references:
HPO:0010293 "Aplasia/Hypoplasia of the uvula" [Orphanet:11750]
Orphanet:11750 "Hypoplastic/aplastic uvula" [Orphanet:11750]
OMIM: "Absent uvula" [OMIM:Absent uvula]
UMLS:C0266121 "Congenital absence of uvula" [Orphanet:11750]
UMLS:C1096050 "Uvula aplasia" [Orphanet:11750]
Is a (Direct Parents):
HPO         Aplasia/Hypoplasia of the uvula
Orphanet Abnormality of the palate
MedDRA Oral soft tissue disorders NEC
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)
                Abnormality of the mouth(HPO:0000153)
                   Abnormality of the oral cavity(HPO:0000163)
                      Abnormality of the palate(HPO:0000174)
                         Abnormality of the soft palate(HPO:0100736)
                            Abnormality of the uvula(HPO:0000172)
                               Aplasia/Hypoplasia of the uvula(HPO:0010293)
                                  Absent uvula(HPO:0010292)
MedDRA:
Gastrointestinal disorders(MedDRA:10017947)
    Oral soft tissue conditions(MedDRA:10031013)
       Oral soft tissue disorders NEC(MedDRA:10031015)
          Absent uvula(HPO:0010292)
Database Frequency: 2 / 7739
Resource:

All diseases associated with this symptom:

Autosomal recessive Robinow syndrome (Orphanet:1507)
Mesomelia-synostoses syndrome (Orphanet:2496)