loading...| Preferred Name | Pycnodysostosis | |
| Synonyms |
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|
| Definitions |
An osteochondrodysplasia that has_material_basis_in a mutation in the CTSK gene which results_in dwarfism, brittle bones, osteopetrosis, shortening of the distal phalanges. |
|
| ID |
http://www.phoc.org.cn/pmo/class/PMO_00036734 |
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| Database_Cross_Reference |
OMIM:601105 MTH:NOCODE CHV:0000024014 SNOMEDCT_US:190939007 RCD:PG59. NDFRT:N0000182174 OMIM:265800 SNOMEDCT_US:89647000 MEDCIN:32595 SNM:D-5268 DXP:U001630 MSH:D058631 SNMI:D4-00B04 DXP:NOCODE DO:DOID:0080038 SNM:D-5266 |
|
| Definition |
An osteochondrodysplasia that has_material_basis_in a mutation in the CTSK gene which results_in dwarfism, brittle bones, osteopetrosis, shortening of the distal phalanges. |
|
| label |
Pycnodysostosis |
|
| MCID |
MC00080919 |
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| PMOID |
PMO:00036734 |
|
| prefixIRI |
pmo:PMO_00036734 |
|
| prefLabel |
Pycnodysostosis |
|
| Synonym |
PYKNODYSOSTOSIS Stanesco's dysostosis syndrome Pycnodysostosis [Disease/Finding] pycnodysostosis PYCNODYSOSTOSIS Pyknodysostosis (disorder) pyknodysostosis Pycnodysostosis (disorder) Pycnodysostoses pyknodysostosis (diagnosis) PYCD Pyknodysostosis Maroteaux-Lamy syndrome II MAROTEAUX-LAMY SYNDROME 2 Maroteaux-Lamy pyknodysostosis syndrome PKND Pyknodysostoses |
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| Tree Number |
T9.3.9.22.13.5 T9.8.4.19.5 T9.11.1.12.3.3 T9.8.4.2 T9.8.4.14.3.3 |
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| subClassOf |
http://www.phoc.org.cn/pmo/class/PMO_00036558 http://www.phoc.org.cn/pmo/class/PMO_00013956 |