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Medical Subject Headings
Last uploaded:
March 22, 2026
| Id | http://purl.bioontology.org/ontology/MESH/D020163
http://purl.bioontology.org/ontology/MESH/D020163
|
|---|---|
| Preferred Name | Ornithine Carbamoyltransferase Deficiency Disease |
| Definitions |
An inherited urea cycle disorder associated with deficiency of the enzyme ORNITHINE CARBAMOYLTRANSFERASE, transmitted as an X-linked trait and featuring elevations of amino acids and ammonia in the serum. Clinical features, which are more prominent in males, include seizures, behavioral alterations, episodic vomiting, lethargy, and coma. (Menkes, Textbook of Child Neurology, 5th ed, pp49-50)
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| Synonyms |
Ornithine Carbamoyltransferase Deficiency
Ornithine Transcarbamylase Deficiencies
Ornithine Transcarbamylase Deficiency
Deficiencies, OTC
Deficiency, Ornithine Transcarbamylase
OTC Deficiency
Deficiency Disease, Ornithine Transcarbamylase
Ornithine Transcarbamylase Deficiency, Hyperammonemia Due To
OTC Deficiencies
Deficiency, OTC
Ornithine Transcarbamylase Deficiency Disease
Deficiency Disease, Ornithine Carbamoyltransferase
Deficiencies, Ornithine Transcarbamylase
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|
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| definition | An inherited urea cycle disorder associated with deficiency of the enzyme ORNITHINE CARBAMOYLTRANSFERASE, transmitted as an X-linked trait and featuring elevations of amino acids and ammonia in the serum. Clinical features, which are more prominent in males, include seizures, behavioral alterations, episodic vomiting, lethargy, and coma. (Menkes, Textbook of Child Neurology, 5th ed, pp49-50) |
|---|---|
| altLabel |
Ornithine Carbamoyltransferase Deficiency
Ornithine Transcarbamylase Deficiencies
Ornithine Transcarbamylase Deficiency
Deficiencies, OTC
Deficiency, Ornithine Transcarbamylase
OTC Deficiency
Deficiency Disease, Ornithine Transcarbamylase
Ornithine Transcarbamylase Deficiency, Hyperammonemia Due To
OTC Deficiencies
Deficiency, OTC
Ornithine Transcarbamylase Deficiency Disease
Deficiency Disease, Ornithine Carbamoyltransferase
Deficiencies, Ornithine Transcarbamylase
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| prefLabel | Ornithine Carbamoyltransferase Deficiency Disease
|
| Machine permutation | 2000
|
| HN | 2000
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| type | |
| tui | T047
|
| TERMUI |
T812232
T812233
T369809
T358321
T734577
T369807
T734487
T369808
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| TH |
OMIM (2013)
NLM (2000)
NLM (2010)
GHR (2014)
ORD (2010)
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| MMR | 20130708
|
| notation | D020163
|
| Inverse of RO | |
| Semantic type UMLS property | |
| Inverse of AQ |
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| FX | D009954
|
| DX | 20000101
|
| cui | C0268542
|
| DC | 1
|
| MN |
C10.228.140.163.100.937.750
C16.320.565.189.937.750
C18.452.648.100.940.500
C18.452.132.100.937.500
C18.452.648.189.937.500
C16.320.565.100.940.750
C16.320.322.828
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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 | 19991012
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| subClassOf |
| Delete | Subject | Author | Type | Created |
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