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Ontology Browser
Term:
Parent Terms Term With Siblings Child Terms
Adamantinomatous Craniopharyngioma 
Al-Gazali syndrome 
aneurysm-osteoarthritis syndrome 
bone disease +   
bone marrow disorder +   
brachydactyly +  
brachydactyly-syndactyly syndrome 
brachydactyly-syndactyly-oligodactyly syndrome 
Brachymorphism-onychodysplasia-dysphalangism syndrome 
Buschke-Ollendorff syndrome 
cartilage disease +   
cartilage-hair hypoplasia +  
cervical spondylosis 
cherubism 
chondroma +  
Coffin-Siris syndrome +  
endocrine-cerebro-osteodysplasia syndrome 
fibrodysplasia ossificans progressiva 
flatfoot  
Hammer Toe Syndrome  
joint disease +   
Loeys-Dietz syndrome 1 
Loeys-Dietz syndrome 6 
Marfan syndrome +  
metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria 
microcephaly-brachydactyly-kyphoscoliosis syndrome 
multiple congenital anomalies-hypotonia-seizures syndrome 3 
ossification of the posterior longitudinal ligament of the spine  
Papillary Craniopharyngioma 
polydactyly +  
primary basilar invagination 
Pubic Symphysis Diastasis 
Rare genetic bone development disorder +   
rheumatic disease +   
Rienhoff syndrome 
Loeys-Dietz syndrome-5 (LDS5), also known as Rienhoff (pronounced REENhoff) syndrome, is characterized by syndromic presentation of aortic aneurysms involving the thoracic and/or abdominal aorta, with risk of dissection and rupture. Other systemic features include cleft palate, bifid uvula, mitral valve disease, skeletal overgrowth, cervical spine instability, and clubfoot deformity; however, not all clinical features occur in all patients. In contrast to other forms of LDS, no striking aortic or arterial tortuosity is present in these patients, and there is no strong evidence for early aortic dissection.
scalp defects-postaxial polydactyly syndrome 
short stature, amelogenesis imperfecta, and skeletal dysplasia with scoliosis 
short stature-auditory canal atresia-mandibular hypoplasia-skeletal anomalies syndrome 
symphalangism +  
syndactyly +  
Synovial Chondromatosis 
Teebi-Shaltout syndrome 
temtamy preaxial brachydactyly syndrome 
tooth disease +   
vertebral column disorder +   

Synonyms
Exact Synonyms: Loeys-Dietz syndrome type 5
Related Synonyms: LDS5 ;   Loeys-Dietz syndrome 5
Xrefs: DOID:0070236 ;   GARD:12356 ;   MEDGEN:816342 ;   MIM:615582 ;   MONDO:0014262 ;   UMLS:C3810012
see_also: https://rarediseases.info.nih.gov/diseases/12356/rienhoff-syndrome" xsd:anyURI {source="GARD:0012356
Definition Sources: EFO:1000012

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