loading...| Preferred Name |
Chondrodysplasia Punctata, Rhizomelic |
| Synonyms |
Rhizomelic Chondrodysplasia Punctata |
| Definitions |
An autosomal recessive form of CHONDRODYSPLASIA PUNCTATA characterized by defective plasmalogen biosynthesis and impaired peroxisomes. Patients have shortened proximal limbs and severely disturbed endochondral bone formation. The metabolic defects associated with the impaired peroxisomes are present only in the rhizomelic form of chondrodysplasia punctata. (From Scriver et al, Metabolic Basis of Inherited Disease, 6th ed, p1497) |
| ID |
http://purl.bioontology.org/ontology/MESH/D018902 |
| altLabel |
Rhizomelic Chondrodysplasia Punctata Punctata, Rhizomelic Chondrodysplasia Chondrodysplasia Punctata, Rhizomelic Form Rhizomelic Chondrodysplasia Punctatas Punctatas, Rhizomelic Chondrodysplasia Chondrodysplasia Punctatas, Rhizomelic |
| AN |
a form of osteochondrodysplasia with stippled epiphyses; do not use /congen & do not coord with INFANT, NEWBORN, DISEASES |
| 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 |
C0282529 |
| DC |
1 |
| definition |
An autosomal recessive form of CHONDRODYSPLASIA PUNCTATA characterized by defective plasmalogen biosynthesis and impaired peroxisomes. Patients have shortened proximal limbs and severely disturbed endochondral bone formation. The metabolic defects associated with the impaired peroxisomes are present only in the rhizomelic form of chondrodysplasia punctata. (From Scriver et al, Metabolic Basis of Inherited Disease, 6th ed, p1497) |
| DX |
19960101 |
| HN |
1996 |
| 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 |
| Machine permutation |
1996 |
| Mapped from |
http://purl.bioontology.org/ontology/MESH/C537607 |
| MDA |
19941227 |
| MMR |
20150608 |
| MN |
C05.116.099.708.195.200 C18.452.648.663.265 C16.320.565.663.265 |
| notation |
D018902 |
| prefLabel |
Chondrodysplasia Punctata, Rhizomelic |
| TERMUI |
T751461 T056337 T056336 |
| TH |
NLM (1996) NLM (2010) ORD (2010) OMIM (2013) GHR (2014) |
| tui |
T047 |
| subClassOf |