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Medical Subject Headings
| Preferred Name | Chondrodysplasia Punctata | |
| Synonyms |
Conradi Hünermann Syndrome Chondrodysplasia Punctata 2, X Linked Dominant Conradi-Hunermann Syndrome Hunermann-Conradi Syndrome Hunermann Conradi Syndrome X Linked Dominant Chondrodysplasia Punctata Conradi-Hünermann-Happle Syndromes Chondrodysplasia Punctata 2, X-Linked Dominant Conradi-Hünermann Syndrome Dysplasia Epiphysialis Punctata X-Linked Dominant Chondrodysplasia Punctata Epiphyses, Stippled X-Linked Chondrodysplasia Punctata 2 Chondrodysplasia Punctata 2, X-Linked Chondrodysplasia Punctata 2, X Linked Conradi Hunermann Happle Syndrome Stippled Epiphyses Conradi-Hunermann-Happle Syndrome Chondrodystrophia Calcificans Congenita Happle Syndrome Conradi-Hünermann-Happle Syndrome Conradi Hunermann Syndrome Conradi-Hunermann-Happle Syndromes Conradi Hünermann Happle Syndrome Conradi-Hünermann Syndromes X Linked Chondrodysplasia Punctata 2 |
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| Definitions |
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. |
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| ID |
http://purl.bioontology.org/ontology/MESH/D002806 |
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| altLabel |
Conradi Hünermann Syndrome Chondrodysplasia Punctata 2, X Linked Dominant Conradi-Hunermann Syndrome Hunermann-Conradi Syndrome Hunermann Conradi Syndrome X Linked Dominant Chondrodysplasia Punctata Conradi-Hünermann-Happle Syndromes Chondrodysplasia Punctata 2, X-Linked Dominant Conradi-Hünermann Syndrome Dysplasia Epiphysialis Punctata X-Linked Dominant Chondrodysplasia Punctata Epiphyses, Stippled X-Linked Chondrodysplasia Punctata 2 Chondrodysplasia Punctata 2, X-Linked Chondrodysplasia Punctata 2, X Linked Conradi Hunermann Happle Syndrome Stippled Epiphyses Conradi-Hunermann-Happle Syndrome Chondrodystrophia Calcificans Congenita Happle Syndrome Conradi-Hünermann-Happle Syndrome Conradi Hunermann Syndrome Conradi-Hunermann-Happle Syndromes Conradi Hünermann Happle Syndrome Conradi-Hünermann Syndromes X Linked Chondrodysplasia Punctata 2
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| AN |
spell entry term name Hunermann with an umlaut in titles & translations; CHONDRODYSPLASIA PUNCTATA, RHIZOMELIC is also available
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| 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
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| cui |
C0282102 C0008445
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| DC |
1
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| definition |
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.
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| DX |
19670101
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| HN |
1985(1964)
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| Inverse of AQ |
http://purl.bioontology.org/ontology/MESH/Q000097 http://purl.bioontology.org/ontology/MESH/Q000178 http://purl.bioontology.org/ontology/MESH/Q000175 http://purl.bioontology.org/ontology/MESH/Q000628 http://purl.bioontology.org/ontology/MESH/Q000276 http://purl.bioontology.org/ontology/MESH/Q000134 http://purl.bioontology.org/ontology/MESH/Q000139 http://purl.bioontology.org/ontology/MESH/Q000266 http://purl.bioontology.org/ontology/MESH/Q000378 http://purl.bioontology.org/ontology/MESH/Q000517 http://purl.bioontology.org/ontology/MESH/Q000662 http://purl.bioontology.org/ontology/MESH/Q000469 http://purl.bioontology.org/ontology/MESH/Q000151 http://purl.bioontology.org/ontology/MESH/Q000150 http://purl.bioontology.org/ontology/MESH/Q000821 http://purl.bioontology.org/ontology/MESH/Q000191 http://purl.bioontology.org/ontology/MESH/Q000196 http://purl.bioontology.org/ontology/MESH/Q000473 http://purl.bioontology.org/ontology/MESH/Q000145 http://purl.bioontology.org/ontology/MESH/Q000382 http://purl.bioontology.org/ontology/MESH/Q000451 http://purl.bioontology.org/ontology/MESH/Q000453 http://purl.bioontology.org/ontology/MESH/Q000534 http://purl.bioontology.org/ontology/MESH/Q000532 http://purl.bioontology.org/ontology/MESH/Q000503 http://purl.bioontology.org/ontology/MESH/Q000188 http://purl.bioontology.org/ontology/MESH/Q000235 http://purl.bioontology.org/ontology/MESH/Q000201 http://purl.bioontology.org/ontology/MESH/Q000209 http://purl.bioontology.org/ontology/MESH/Q000208 http://purl.bioontology.org/ontology/MESH/Q000601 http://purl.bioontology.org/ontology/MESH/Q000000981 http://purl.bioontology.org/ontology/MESH/Q000652 |
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| Machine permutation |
1985; see CHONDRODYSTROPHIA CALCIFICANS CONGENITA 1967-1984
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| Mapped from |
http://purl.bioontology.org/ontology/MESH/C535392 http://purl.bioontology.org/ontology/MESH/C565853 http://purl.bioontology.org/ontology/MESH/C564742 http://purl.bioontology.org/ontology/MESH/C538095 http://purl.bioontology.org/ontology/MESH/C563248 http://purl.bioontology.org/ontology/MESH/C580533 |
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| MDA |
19990101
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| MMR |
20160120
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| MN |
C05.116.099.708.195
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| notation |
D002806
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| prefLabel |
Chondrodysplasia Punctata
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| TERMUI |
T842726 T008184 T008182 T008183 T842728 T842729 T812292 T008179 T000892507 T008180 T751460 T842730 T008178 T751459 T008181 T842731
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| TH |
OMIM (2013) NLM (1992) UNK (19XX) NLM (2010) GHR (2014) NLM (1964) ORD (2010)
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| tui |
T047
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| subClassOf |
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