Abnormality of the diaphragm

Symptom Information:

Symptom ID: HPO:0000775
Synonyms:
Diaphragmatic defect [HPO:0000775]
Diaphragm defect [Orphanet:32440]
Diaphragm structural anomaly [Orphanet:32000]
Defect of diaphragm (disorder) [Orphanet:32440]
Defect of diaphragm [Orphanet:32440]
Diaphragmatic defect [OMIM:Diaphragmatic defect]
Diaphragmatic hernia/defect/agenesis [Orphanet:32440]
Structural anomalies of the respiratory system and diaphragm [Orphanet:32000]
Respiratory tract structural anomaly [Orphanet:32000]
Congenital malformation of the respiratory system (disorder) [Orphanet:32000]
Congenital anomaly of respiratory system (disorder) [Orphanet:32000]
Respiratory System Abnormalities [Orphanet:32000]
Quality:
Cross references:
Orphanet:32440 "Diaphragmatic hernia/defect/agenesis" [Orphanet:32440]
Orphanet:32000 "Structural anomalies of the respiratory system and diaphragm" [Orphanet:32000]
OMIM: "Diaphragmatic defect" [OMIM:Diaphragmatic defect]
UMLS:C0239179 "Defect of diaphragm" [Orphanet:32440]
UMLS:C0035238 "Respiratory System Abnormalities" [Orphanet:32000]
Is a (Direct Parents):
HPO         Abnormal respiratory system morphology
HPO         Abnormality of the hemidiaphragms
HPO         Abnormality of the abdomen
Is a (Whole tree): HPO:
All(HPO:0000001)
    Phenotypic abnormality(HPO:0000118)
       Abnormality of the abdomen(HPO:0001438)
          Abnormality of the diaphragm(HPO:0000775)
       Abnormality of the respiratory system(HPO:0002086)
          Abnormal respiratory system morphology(HPO:0012252)
             Abnormality of the diaphragm(HPO:0000775)
MedDRA:
Database Frequency: 62 / 7739
Resource:

All diseases associated with this symptom:

15q24 microdeletion syndrome (Orphanet:94065)
2q37 microdeletion syndrome (Orphanet:1001)
8p23.1 microdeletion syndrome (Orphanet:251071)
Absent tibia - polydactyly - arachnoid cyst (Orphanet:3328)
Acro-renal-mandibular syndrome (Orphanet:958)
Acrocallosal syndrome (Orphanet:36)
Arthrogryposis multiplex congenita (Orphanet:1037)
Autosomal recessive cutis laxa type 1 (Orphanet:90349)
Autosomal recessive spondylocostal dysostosis (Orphanet:2311)
Axial mesodermal dysplasia spectrum (Orphanet:1834)
Beckwith-Wiedemann syndrome (Orphanet:116)
C syndrome (Orphanet:1308)
Cantrell pentalogy (Orphanet:1335)
Cleft palate - short stature - vertebral anomalies (Orphanet:2015)
Coffin-Siris syndrome (Orphanet:1465)
Congenital diaphragmatic hernia (Orphanet:2140)
Congenital unilateral hypoplasia of depressor anguli oris (Orphanet:1166)
Congenital unilateral pulmonary hypoplasia (Orphanet:2258)
Cooper-Jabs syndrome (Orphanet:1488)
Cornelia de Lange syndrome (Orphanet:199)
Craniofrontonasal dysplasia (Orphanet:1520)
Craniorachischisis (Orphanet:63260)
Cutis laxa-Marfanoid syndrome (Orphanet:171719)
Diaphragmatic defect - limb deficiency - skull defect (Orphanet:2141)
Donnai-Barrow syndrome (Orphanet:2143)
Dysmorphism - multiple structural anomalies (Orphanet:1780)
Ehlers-Danlos syndrome type 1 (Orphanet:90309)
Ehlers-Danlos syndrome type 2 (Orphanet:90318)
Fetal alcohol syndrome (Orphanet:1915)
Focal dermal hypoplasia (Orphanet:2092)
Fryns syndrome (Orphanet:2059)
Genito-palato-cardiac syndrome (Orphanet:2075)
Greig cephalopolysyndactyly syndrome (Orphanet:380)
Hereditary continuous muscle fiber activity (Orphanet:972)
Holoprosencephaly (Orphanet:2162)
Iniencephaly (Orphanet:63259)
Kabuki syndrome (Orphanet:2322)
Lethal multiple pterygium syndrome (Orphanet:33108)
Lowry-MacLean syndrome (Orphanet:2409)
Lung agenesis - heart defect - thumb anomalies (Orphanet:1120)
Matthew-Wood syndrome (Orphanet:2470)
Meacham syndrome (Orphanet:3097)
Microphthalmia with linear skin defects syndrome (Orphanet:2556)
Monosomy 9p (Orphanet:261112)
Mycophenolate mofetil embryopathy (Orphanet:268249)
Natal teeth - intestinal pseudoobstruction - patent ductus (Orphanet:1654)
Oculocerebrocutaneous syndrome (Orphanet:1647)
PAGOD syndrome (Orphanet:991)
Pericardial and diaphragmatic defect (Orphanet:2847)
Poland syndrome (Orphanet:2911)
Proximal 16p11.2 microdeletion syndrome (Orphanet:261197)
Schisis association (Orphanet:63862)
Simpson-Golabi-Behmel syndrome (Orphanet:373)
Smith-Lemli-Opitz syndrome (Orphanet:818)
Splenogonadal fusion - limb defects - micrognathia (Orphanet:2063)
Split hand - urinary anomalies - spina bifida (Orphanet:2437)
Tetraamelia - multiple malformations (Orphanet:3301)
Triose phosphate-isomerase deficiency (Orphanet:868)
Trisomy 18 (Orphanet:3380)
Trisomy 1q (Orphanet:261344)
VACTERL/VATER association (Orphanet:887)
Wolf-Hirschhorn syndrome (Orphanet:280)