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Medical Subject Headings
Last uploaded:
March 22, 2026
| Id | http://purl.bioontology.org/ontology/MESH/D018902
http://purl.bioontology.org/ontology/MESH/D018902
|
|---|---|
| Preferred Name | Chondrodysplasia Punctata, Rhizomelic |
| 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)
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| Synonyms |
Chondrodysplasia Punctatas, Rhizomelic
Chondrodysplasia Punctata, Rhizomelic Form
Punctata, Rhizomelic Chondrodysplasia
Rhizomelic Chondrodysplasia Punctata
Rhizomelic Chondrodysplasia Punctatas
Punctatas, Rhizomelic Chondrodysplasia
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| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| 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) |
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| altLabel |
Chondrodysplasia Punctatas, Rhizomelic
Chondrodysplasia Punctata, Rhizomelic Form
Punctata, Rhizomelic Chondrodysplasia
Rhizomelic Chondrodysplasia Punctata
Rhizomelic Chondrodysplasia Punctatas
Punctatas, Rhizomelic Chondrodysplasia
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| prefLabel | Chondrodysplasia Punctata, Rhizomelic
|
| Machine permutation | 1996
|
| HN | 1996
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| Mapped from | |
| type | |
| tui | T047
|
| TERMUI |
T056336
T056337
T751461
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| TH |
NLM (1996)
OMIM (2013)
NLM (2010)
GHR (2014)
ORD (2010)
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| MMR | 20150608
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| notation | D018902
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| Semantic type UMLS property | |
| Inverse of AQ |
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| DX | 19960101
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| cui | C0282529
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| DC | 1
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| MN |
C05.116.099.708.195.200
C18.452.648.663.265
C16.320.565.663.265
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| AN | a form of osteochondrodysplasia with stippled epiphyses; do not use /congen & do not coord with INFANT, NEWBORN, DISEASES
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| 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
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| MDA | 19990101
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| subClassOf |
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| No notes to display |