Chondrodysplasia Punctata

Chondrodysplasia Punctata 2, X-Linked Dominant

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.

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

Chondrodysplasia Punctata 2, X-Linked Dominant

Stippled Epiphyses

Conradi-Hünermann Syndrome

Conradi-Hunermann-Happle Syndrome

Chondrodysplasia Punctata 2, X-Linked

Epiphyses, Stippled

Conradi-Hunermann Syndrome

Chondrodystrophia Calcificans Congenita

Conradi-Hünermann-Happle Syndrome

X-Linked Dominant Chondrodysplasia Punctata

Conradi Hunermann Happle Syndrome

Hunermann-Conradi Syndrome

Conradi Hünermann Syndrome

Hunermann Conradi Syndrome

Conradi-Hünermann-Happle Syndromes

Conradi-Hunermann-Happle Syndromes

Chondrodysplasia Punctata 2, X Linked

Conradi Hünermann Happle Syndrome

Chondrodysplasia Punctata 2, X Linked Dominant

Dysplasia Epiphysialis Punctata

Happle Syndrome

X Linked Dominant Chondrodysplasia Punctata

X Linked Chondrodysplasia Punctata 2

Conradi-Hünermann Syndromes

X-Linked Chondrodysplasia Punctata 2

Conradi Hunermann Syndrome

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

C0008445

C0282102

1

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.

19670101

1985(1964)

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/Q000151

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

1985; see CHONDRODYSTROPHIA CALCIFICANS CONGENITA 1967-1984

http://purl.bioontology.org/ontology/MESH/C538095

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/C535392

http://purl.bioontology.org/ontology/MESH/C535941

http://purl.bioontology.org/ontology/MESH/C563248

http://purl.bioontology.org/ontology/MESH/C580533

19990101

20160120

C05.116.099.708.195

D002806

Chondrodysplasia Punctata

T812292

T008184

T008179

T000892507

T008182

T008180

T842726

T842731

T842728

T008181

T008178

T842729

T751460

T751459

T008183

T842730

UNK (19XX)

NLM (1992)

NLM (2010)

NLM (1964)

ORD (2010)

OMIM (2013)

GHR (2014)

T019

T047

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