Chondrodysplasia Punctata

Go to external page http://purl.bioontology.org/ontology/MESH/D002806


A heterogeneous group of bone dysplasias, the common character of which is stippling of the epiphyses in infancy. The group includes a severe autosomal recessive form (CHONDRODYSPLASIA PUNCTATA, RHIZOMELIC), an autosomal dominant form (Conradi-Hunermann syndrome), and a milder X-linked form. Metabolic defects associated with impaired peroxisomes are present only in the rhizomelic form.

Instance info

Synonyms

Stippled Epiphyses (DE), Conradi-Hunermann-Happle Syndrome, Conradi Hünermann Syndrome, Chondrodystrophia Calcificans Congenita, Conradi Hunermann Syndrome, Chondroplasia punctata (DE), Conradi-Hünermann-Syndrom (DE), Conradi-Hünermann-Happle Syndromes, Conradi-Hunermann-Happle Syndromes, Conradi-Hünermann Syndromes, Hunermann Conradi Syndrome, Chondrodysplasia punctata (DE), X Linked Dominant Chondrodysplasia Punctata, Chondrodysplasia Punctata 2, X Linked Dominant, Happle Syndrome, Stippled Epiphyses, Conradi-Hünermann-Happle Syndrome, Chondrodysplasia Punctata 2, X-Linked Dominant, Epiphyses, Stippled, Conradi Hunermann Happle Syndrome, Dysplasia epiphysialis punctata (DE), Hunermann-Conradi Syndrome, Conradi-Hunermann Syndrome, X-Linked Dominant Chondrodysplasia Punctata, Conradi-Hünermann Syndrome, X-Linked Chondrodysplasia Punctata 2, Dysplasia Epiphysialis Punctata, X Linked Chondrodysplasia Punctata 2, Chondrodystrophia calcificans congenita (DE), Conradi Hünermann Happle Syndrome, Epiphysäre Kalkspritzereinlagerungen (DE), Chondrodysplasia Punctata 2, X Linked, Chondrodysplasia Punctata 2, X-Linked, Epiphyses, Stippled (DE)

AN

spell entry term name Hunermann with an umlaut in titles & translations; CHONDRODYSPLASIA PUNCTATA, RHIZOMELIC is also available

AQL

BL CF CI CL CN 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

DC

1

DX

19670101

HN

1985(1964)

MDA

19990101

MMR

20160120

MN

C05.116.099.708.195

PM

1985; see CHONDRODYSTROPHIA CALCIFICANS CONGENITA 1967-1984

QB

http://purl.bioontology.org/ontology/MESH/Q000175,http://purl.bioontology.org/ontology/MESH/Q000097,http://purl.bioontology.org/ontology/MESH/Q000196,http://purl.bioontology.org/ontology/MESH/Q000151,http://purl.bioontology.org/ontology/MESH/Q000150,http://purl.bioontology.org/ontology/MESH/Q000191,http://purl.bioontology.org/ontology/MESH/Q000139,http://purl.bioontology.org/ontology/MESH/Q000534,http://purl.bioontology.org/ontology/MESH/Q000235,http://purl.bioontology.org/ontology/MESH/Q000532,http://purl.bioontology.org/ontology/MESH/Q000378,http://purl.bioontology.org/ontology/MESH/Q000652,http://purl.bioontology.org/ontology/MESH/Q000134,http://purl.bioontology.org/ontology/MESH/Q000178,http://purl.bioontology.org/ontology/MESH/Q000453,http://purl.bioontology.org/ontology/MESH/Q000276,http://purl.bioontology.org/ontology/MESH/Q000000981,http://purl.bioontology.org/ontology/MESH/Q000451,http://purl.bioontology.org/ontology/MESH/Q000473,http://purl.bioontology.org/ontology/MESH/Q000517,http://purl.bioontology.org/ontology/MESH/Q000382,http://purl.bioontology.org/ontology/MESH/Q000601,http://purl.bioontology.org/ontology/MESH/Q000469,http://purl.bioontology.org/ontology/MESH/Q000821,http://purl.bioontology.org/ontology/MESH/Q000523,http://purl.bioontology.org/ontology/MESH/Q000401,http://purl.bioontology.org/ontology/MESH/Q000201,http://purl.bioontology.org/ontology/MESH/Q000266,http://purl.bioontology.org/ontology/MESH/Q000145,http://purl.bioontology.org/ontology/MESH/Q000662,http://purl.bioontology.org/ontology/MESH/Q000188,http://purl.bioontology.org/ontology/MESH/Q000628,http://purl.bioontology.org/ontology/MESH/Q000209,http://purl.bioontology.org/ontology/MESH/Q000208,http://purl.bioontology.org/ontology/MESH/Q000503

SIB

http://purl.bioontology.org/ontology/MESH/D010013,http://purl.bioontology.org/ontology/MESH/D015831,http://purl.bioontology.org/ontology/MESH/D058631,http://purl.bioontology.org/ontology/MESH/D060048,http://purl.bioontology.org/ontology/MESH/D010026,http://purl.bioontology.org/ontology/MESH/D015826,http://purl.bioontology.org/ontology/MESH/D012779,http://purl.bioontology.org/ontology/MESH/D004613,http://purl.bioontology.org/ontology/MESH/D006957,http://purl.bioontology.org/ontology/MESH/D006958,http://purl.bioontology.org/ontology/MESH/D002973,http://purl.bioontology.org/ontology/MESH/D020083,http://purl.bioontology.org/ontology/MESH/D004687,http://purl.bioontology.org/ontology/MESH/D057767,http://purl.bioontology.org/ontology/MESH/D000130,http://purl.bioontology.org/ontology/MESH/D005357,http://purl.bioontology.org/ontology/MESH/D003966

TERMUI

T812292,T751460,T842729,T842728,T008181,T008182,T842726,T008180,T008183,T008184,T008178,T000892507,T842731,T842730,T008179,T751459

TH

GHR (2014),NLM (1992),ORD (2010),OMIM (2013),NLM (2010),UNK (19XX),NLM (1964)

cui

C0008445,C0282102

hasSTY

http://purl.bioontology.org/ontology/STY/T047,http://purl.bioontology.org/ontology/STY/T019

mapped from

http://purl.bioontology.org/ontology/MESH/C538095,http://purl.bioontology.org/ontology/MESH/C580533,http://purl.bioontology.org/ontology/MESH/C535392,http://purl.bioontology.org/ontology/MESH/C535941,http://purl.bioontology.org/ontology/MESH/C562961,http://purl.bioontology.org/ontology/MESH/C565853,http://purl.bioontology.org/ontology/MESH/C564742,http://purl.bioontology.org/ontology/MESH/C563248

tui

T019,T047

Instance relations

Types