Agenesis of the diaphragm

Symptom Information:

Symptom ID: HPO:0008986
Synonyms:
Agenesis of diaphragm [HPO:0008986]
Diaphragm agenesis [Orphanet:32440]
Congenital absence of diaphragm (disorder) [Orphanet:32440]
Congenital absence of diaphragm [Orphanet:32440]
Agenesis of diaphragm [OMIM:Agenesis of diaphragm]
Agenesis of the diaphragm [OMIM:Agenesis of the diaphragm]
Diaphragmatic hernia/defect/agenesis [Orphanet:32440]
Diaphragmatic aplasia [Orphanet:32440]
Diaphragmatic aplasia [MedDRA:10012711]
Diaphragm aplasia [MedDRA:10012711]
Quality:
Cross references:
Orphanet:32440 "Diaphragmatic hernia/defect/agenesis" [Orphanet:32440]
OMIM: "Agenesis of diaphragm" [OMIM:Agenesis of diaphragm]
OMIM: "Agenesis of the diaphragm" [OMIM:Agenesis of the diaphragm]
UMLS:C0221360 "Congenital absence of diaphragm" [Orphanet:32440]
Is a (Direct Parents):
HPO         Aplasia/Hypoplasia of the diaphragm
MedDRA Diaphragmatic disorders congenital
Orphanet Abnormality of the diaphragm
Is a (Whole tree): HPO:
All(HPO:0000001)
    Phenotypic abnormality(HPO:0000118)
       Abnormality of the respiratory system(HPO:0002086)
          Abnormal respiratory system morphology(HPO:0012252)
             Abnormality of the diaphragm(HPO:0000775)
                Aplasia/Hypoplasia of the diaphragm(HPO:0010315)
                   Agenesis of the diaphragm(HPO:0008986)
       Abnormality of the abdomen(HPO:0001438)
          Abnormality of the diaphragm(HPO:0000775)
             Aplasia/Hypoplasia of the diaphragm(HPO:0010315)
                Agenesis of the diaphragm(HPO:0008986)
MedDRA:
Congenital, familial and genetic disorders(MedDRA:10010331)
    Respiratory disorders congenital(MedDRA:10038686)
       Diaphragmatic disorders congenital(MedDRA:10012707)
          Agenesis of the diaphragm(HPO:0008986)
Database Frequency: 3 / 7739
Resource:

All diseases associated with this symptom:

DIAPHRAGMATIC HERNIA 2 (OMIM:222400)
HYDROLETHALUS SYNDROME 1 (OMIM:236680)
Hydrolethalus (Orphanet:2189)