Medical Subject Headings

Last uploaded: November 5, 2019
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Preferred Name

Pycnodysostosis
Synonyms

Pyknodysostosis
Definitions

Rare autosomal recessive syndrome characterized by delayed closing of CRANIAL SUTURES, short stature, ACRO-OSTEOLYSIS of distal phalanges, dental and MAXILLOFACIAL ABNORMALITIES and an increase in bone density that results in frequent BONE FRACTURES. It is associated with BONE RESORPTION defect due to mutations in the lysosomal cysteine protease CATHEPSIN K.
ID

http://purl.bioontology.org/ontology/MESH/D058631
altLabel

Pyknodysostosis

Pyknodysostoses

Pycnodysostoses
AQL

BL CF CI CL CO DG DH DI DT EC EH EM EN EP ET GE HI IM ME MI MO NU PA PC PP PS PX RH RT SU TH UR VE VI
cui

C0238402
DC

1
definition

Rare autosomal recessive syndrome characterized by delayed closing of CRANIAL SUTURES, short stature, ACRO-OSTEOLYSIS of distal phalanges, dental and MAXILLOFACIAL ABNORMALITIES and an increase in bone density that results in frequent BONE FRACTURES. It is associated with BONE RESORPTION defect due to mutations in the lysosomal cysteine protease CATHEPSIN K.
DX

20110101
HN

2011
Inverse of AQ

http://purl.bioontology.org/ontology/MESH/Q000401

http://purl.bioontology.org/ontology/MESH/Q000150

http://purl.bioontology.org/ontology/MESH/Q000188

http://purl.bioontology.org/ontology/MESH/Q000517

http://purl.bioontology.org/ontology/MESH/Q000201

http://purl.bioontology.org/ontology/MESH/Q000145

http://purl.bioontology.org/ontology/MESH/Q000503

http://purl.bioontology.org/ontology/MESH/Q000453

http://purl.bioontology.org/ontology/MESH/Q000208

http://purl.bioontology.org/ontology/MESH/Q000134

http://purl.bioontology.org/ontology/MESH/Q000821

http://purl.bioontology.org/ontology/MESH/Q000382

http://purl.bioontology.org/ontology/MESH/Q000601

http://purl.bioontology.org/ontology/MESH/Q000235

http://purl.bioontology.org/ontology/MESH/Q000523

http://purl.bioontology.org/ontology/MESH/Q000276

http://purl.bioontology.org/ontology/MESH/Q000191

http://purl.bioontology.org/ontology/MESH/Q000652

http://purl.bioontology.org/ontology/MESH/Q000662

http://purl.bioontology.org/ontology/MESH/Q000628

http://purl.bioontology.org/ontology/MESH/Q000196

http://purl.bioontology.org/ontology/MESH/Q000534

http://purl.bioontology.org/ontology/MESH/Q000266

http://purl.bioontology.org/ontology/MESH/Q000532

http://purl.bioontology.org/ontology/MESH/Q000139

http://purl.bioontology.org/ontology/MESH/Q000378

http://purl.bioontology.org/ontology/MESH/Q000175

http://purl.bioontology.org/ontology/MESH/Q000000981

http://purl.bioontology.org/ontology/MESH/Q000097

http://purl.bioontology.org/ontology/MESH/Q000473

http://purl.bioontology.org/ontology/MESH/Q000451

http://purl.bioontology.org/ontology/MESH/Q000209

http://purl.bioontology.org/ontology/MESH/Q000178

http://purl.bioontology.org/ontology/MESH/Q000469
Inverse of SIB

http://purl.bioontology.org/ontology/MESH/D015785

http://purl.bioontology.org/ontology/MESH/D000745

http://purl.bioontology.org/ontology/MESH/D014898

http://purl.bioontology.org/ontology/MESH/D020294

http://purl.bioontology.org/ontology/MESH/D044904

http://purl.bioontology.org/ontology/MESH/D025861

http://purl.bioontology.org/ontology/MESH/D010004

http://purl.bioontology.org/ontology/MESH/D009958

http://purl.bioontology.org/ontology/MESH/D015217

http://purl.bioontology.org/ontology/MESH/D053306

http://purl.bioontology.org/ontology/MESH/D002806

http://purl.bioontology.org/ontology/MESH/D050174

http://purl.bioontology.org/ontology/MESH/D020083

http://purl.bioontology.org/ontology/MESH/D009386

http://purl.bioontology.org/ontology/MESH/D010381

http://purl.bioontology.org/ontology/MESH/D040181

http://purl.bioontology.org/ontology/MESH/D000072661

http://purl.bioontology.org/ontology/MESH/D031845

http://purl.bioontology.org/ontology/MESH/D001260

http://purl.bioontology.org/ontology/MESH/D050010

http://purl.bioontology.org/ontology/MESH/D010009

http://purl.bioontology.org/ontology/MESH/D020271

http://purl.bioontology.org/ontology/MESH/D016738

http://purl.bioontology.org/ontology/MESH/D009261

http://purl.bioontology.org/ontology/MESH/D004687

http://purl.bioontology.org/ontology/MESH/D065768

http://purl.bioontology.org/ontology/MESH/D000699

http://purl.bioontology.org/ontology/MESH/D006958

http://purl.bioontology.org/ontology/MESH/D054880

http://purl.bioontology.org/ontology/MESH/D009136

http://purl.bioontology.org/ontology/MESH/D000077428

http://purl.bioontology.org/ontology/MESH/D009800

http://purl.bioontology.org/ontology/MESH/D000130

http://purl.bioontology.org/ontology/MESH/D000071070

http://purl.bioontology.org/ontology/MESH/D002636

http://purl.bioontology.org/ontology/MESH/D056660

http://purl.bioontology.org/ontology/MESH/D056685

http://purl.bioontology.org/ontology/MESH/D054179

http://purl.bioontology.org/ontology/MESH/D012779

http://purl.bioontology.org/ontology/MESH/D003554

http://purl.bioontology.org/ontology/MESH/D056731

http://purl.bioontology.org/ontology/MESH/D009083

http://purl.bioontology.org/ontology/MESH/D046589

http://purl.bioontology.org/ontology/MESH/D053840

http://purl.bioontology.org/ontology/MESH/D025063

http://purl.bioontology.org/ontology/MESH/D058747

http://purl.bioontology.org/ontology/MESH/D010013

http://purl.bioontology.org/ontology/MESH/D056735

http://purl.bioontology.org/ontology/MESH/D008661

http://purl.bioontology.org/ontology/MESH/D052159

http://purl.bioontology.org/ontology/MESH/D006957

http://purl.bioontology.org/ontology/MESH/D003966

http://purl.bioontology.org/ontology/MESH/D029502

http://purl.bioontology.org/ontology/MESH/D007619

http://purl.bioontology.org/ontology/MESH/D057767

http://purl.bioontology.org/ontology/MESH/D049970

http://purl.bioontology.org/ontology/MESH/D004392

http://purl.bioontology.org/ontology/MESH/D006453

http://purl.bioontology.org/ontology/MESH/D017436

http://purl.bioontology.org/ontology/MESH/D002973

http://purl.bioontology.org/ontology/MESH/D005357

http://purl.bioontology.org/ontology/MESH/D024741

http://purl.bioontology.org/ontology/MESH/D056684

http://purl.bioontology.org/ontology/MESH/D003550

http://purl.bioontology.org/ontology/MESH/D019896

http://purl.bioontology.org/ontology/MESH/D015826

http://purl.bioontology.org/ontology/MESH/D060048

http://purl.bioontology.org/ontology/MESH/D055947

http://purl.bioontology.org/ontology/MESH/D020140

http://purl.bioontology.org/ontology/MESH/D012873

http://purl.bioontology.org/ontology/MESH/D004613

http://purl.bioontology.org/ontology/MESH/D010026

http://purl.bioontology.org/ontology/MESH/D000312

http://purl.bioontology.org/ontology/MESH/D008382

http://purl.bioontology.org/ontology/MESH/D015831
Machine permutation

2011
MDA

20100625
MMR

20120703
MN

C16.320.565.595.800

C16.320.812

C18.452.648.595.800

C05.116.099.708.779
notation

D058631
prefLabel

Pycnodysostosis
TERMUI

T738732

T738733
TH

NLM (2011)

ORD (2010)

OMIM (2013)
tui

T047
subClassOf

http://purl.bioontology.org/ontology/MESH/D016464

http://purl.bioontology.org/ontology/MESH/D010009

http://purl.bioontology.org/ontology/MESH/D030342
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Delete Mapping To Ontology Source
http://purl.bioontology.org/ontology/OMIM/265800 Online Mendelian Inheritance in Man CUI
http://purl.bioontology.org/ontology/OMIM/265800 Online Mendelian Inheritance in Man LOOM
http://purl.bioontology.org/ontology/OMIM/601105 Online Mendelian Inheritance in Man CUI
http://purl.obolibrary.org/obo/DOID_0080038 Human Disease Ontology 123 LOOM