Abnormality of the aortic arch

Symptom Information:

Symptom ID: HPO:0012303
Cross references:
Is a (Direct Parents):
HPO         Abnormality of the aorta
Is a (Whole tree): HPO:
    Phenotypic abnormality(HPO:0000118)
       Abnormality of the cardiovascular system(HPO:0001626)
          Abnormality of the vasculature(HPO:0002597)
             Abnormality of the systemic arterial tree(HPO:0011004)
                Abnormality of the aorta(HPO:0001679)
                   Abnormality of the aortic arch(HPO:0012303)
Database Frequency: 57 / 7739

All diseases associated with this symptom:

16p13.11 microduplication syndrome (Orphanet:261243)
17q12 microdeletion syndrome (Orphanet:261265)
1p36 deletion syndrome (Orphanet:1606)
1q21.1 microdeletion syndrome (Orphanet:250989)
22q11.2 deletion syndrome (Orphanet:567)
22q11.2 microduplication syndrome (Orphanet:1727)
2q37 microdeletion syndrome (Orphanet:1001)
3C syndrome (Orphanet:7)
3q29 microdeletion syndrome (Orphanet:65286)
8p23.1 microdeletion syndrome (Orphanet:251071)
Acro-cardio-facial syndrome (Orphanet:2008)
Aortic arch anomaly - peculiar facies - intellectual deficit (Orphanet:1110)
Aortic arch defects (Orphanet:1132)
Autosomal dominant coarctation of aorta (Orphanet:1455)
Autosomal recessive Robinow syndrome (Orphanet:1507)
Bardet-Biedl syndrome 10 (OMIM:615987)
CHARGE syndrome (Orphanet:138)
Cleft lip/palate - intestinal malrotation - cardiopathy (Orphanet:2001)
Congenital alveolar capillary dysplasia (Orphanet:210122)
Congenital unilateral hypoplasia of depressor anguli oris (Orphanet:1166)
Conotruncal heart malformations (Orphanet:2445)
Diabetic embryopathy (Orphanet:1926)
Distal trisomy 14q (Orphanet:1705)
Ehlers-Danlos syndrome, musculocontractural type (Orphanet:2953)
Encephalocraniocutaneous lipomatosis (Orphanet:2396)
Fanconi anemia (Orphanet:84)
Fryns syndrome (Orphanet:2059)
Gaucher disease - ophthalmoplegia - cardiovascular calcification (Orphanet:2072)
Heart defect - tongue hamartoma - polysyndactyly (Orphanet:1338)
Holoprosencephaly (Orphanet:2162)
Holt-Oram syndrome (Orphanet:392)
Isotretinoin-like syndrome (Orphanet:2306)
Jacobsen syndrome (Orphanet:2308)
Juvenile polyposis syndrome (Orphanet:2929)
Kabuki syndrome (Orphanet:2322)
Kallmann syndrome - heart disease (Orphanet:2326)
Kleefstra syndrome (Orphanet:261494)
Kleefstra syndrome due to 9q34 microdeletion (Orphanet:96147)
Lethal faciocardiomelic dysplasia (Orphanet:1972)
Lung agenesis - heart defect - thumb anomalies (Orphanet:1120)
Meacham syndrome (Orphanet:3097)
Methimazole embryofetopathy (Orphanet:1923)
Microcephaly - cardiac defect - lung malsegmentation (Orphanet:2516)
Microcephaly - seizures - intellectual deficit - heart disease (Orphanet:2519)
Mosaic variegated aneuploidy syndrome (Orphanet:1052)
Mycophenolate mofetil embryopathy (Orphanet:268249)
Osteopathia striata - cranial sclerosis (Orphanet:2780)
PAGOD syndrome (Orphanet:991)
PHACE syndrome (Orphanet:42775)
PHAVER syndrome (Orphanet:2876)
Phosphoribosylpyrophosphate synthetase superactivity (Orphanet:3222)
Short stature - heart defect - craniofacial anomalies (Orphanet:1088)
Subaortic stenosis - short stature (Orphanet:3191)
Trisomy 17p (Orphanet:261290)
Turner syndrome (Orphanet:881)
Umbilical cord ulceration - intestinal atresia (Orphanet:3405)
Williams syndrome (Orphanet:904)