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
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)
spell entry term name Hunermann with an umlaut in titles & translations; CHONDRODYSPLASIA PUNCTATA, RHIZOMELIC is also available
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
1
19670101
1985(1964)
19990101
20160120
C05.116.099.708.195
1985; see CHONDRODYSTROPHIA CALCIFICANS CONGENITA 1967-1984
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
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
T812292,T751460,T842729,T842728,T008181,T008182,T842726,T008180,T008183,T008184,T008178,T000892507,T842731,T842730,T008179,T751459
GHR (2014),NLM (1992),ORD (2010),OMIM (2013),NLM (2010),UNK (19XX),NLM (1964)
C0008445,C0282102
http://purl.bioontology.org/ontology/STY/T047,http://purl.bioontology.org/ontology/STY/T019
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
T019,T047