loading...| Preferred Name |
Holt-Oram syndrome |
| ID |
http://www.orpha.net/ORDO/Orphanet_392 |
| alternative_term |
Atriodigital dysplasia type 1 Heart-hand syndrome type 1 HOS |
| definition |
A genetic syndrome with limb reduction defects characterized by skeletal abnormalities of the upper limbs and mild-to-severe congenital cardiac defects. |
| definition_citation |
Orphanet |
| expertlink |
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=392 |
| has_age_of_onset |
Neonatal |
| has_inheritance |
Autosomal dominant |
| hasDbXref |
MeSH:C535326 OMIM:142900 MedDRA:10050469 UMLS:C0265264 ICD-10:Q87.2 ICD-11:LD2F.1Y |
| label |
Holt-Oram syndrome |
| notation |
ORPHA:392 |
| part_of |
http://www.orpha.net/ORDO/Orphanet_102285 http://www.orpha.net/ORDO/Orphanet_404574 http://www.orpha.net/ORDO/Orphanet_330206 http://www.orpha.net/ORDO/Orphanet_228184 http://www.orpha.net/ORDO/Orphanet_101934 |
| prefixIRI |
ORDO:Orphanet_392 |
| prefLabel |
Holt-Oram syndrome |
| present_in |
Worldwide AND has_point_prevalence_range : Unknown Europe AND has_birth_prevalence_average_value : 0.7 AND has_birth_prevalence_range : 1-9 / 1 000 000 Hungary AND has_birth_prevalence_average_value : 0.95 AND has_birth_prevalence_range : 1-9 / 1 000 000 |
| treeView |
http://www.orpha.net/ORDO/Orphanet_102285 http://www.orpha.net/ORDO/Orphanet_404574 http://www.orpha.net/ORDO/Orphanet_330206 http://www.orpha.net/ORDO/Orphanet_228184 http://www.orpha.net/ORDO/Orphanet_101934 |
| subClassOf |