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January 16, 2025
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Id | http://purl.bioontology.org/ontology/MESH/D020176
http://purl.bioontology.org/ontology/MESH/D020176
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Preferred Name | Tyrosinemias |
Definitions |
A group of disorders which have in common elevations of tyrosine in the blood and urine secondary to an enzyme deficiency. Type I tyrosinemia features episodic weakness, self-mutilation, hepatic necrosis, renal tubular injury, and seizures and is caused by a deficiency of the enzyme fumarylacetoacetase. Type II tyrosinemia features INTELLECTUAL DISABILITY, painful corneal ulcers, and keratoses of the palms and plantar surfaces and is caused by a deficiency of the enzyme TYROSINE TRANSAMINASE. Type III tyrosinemia features INTELLECTUAL DISABILITY and is caused by a deficiency of the enzyme 4-HYDROXYPHENYLPYRUVATE DIOXYGENASE. (Menkes, Textbook of Child Neurology, 5th ed, pp42-3)
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Synonyms |
Dioxygenase Deficiency, 4-Hydroxyphenylpyruvate
Hypertyrosinemia
Tyrosinemias, Hepatorenal
Tyrosinemias, Hereditary
Type I Hypertyrosinemia
Tyrosinemia Type 1s
Tyrosinemia, Type III
Type 2 Tyrosinemia
Tyrosinemias, Type 2
Tyrosinemia Type 1
Tyrosinemia, Type 2
Fumarylacetoacetase Deficiency
Tyrosinoses, Oculocutaneous Type
Tat Deficiency
4-Hydroxyphenol Pyruvic Acid Oxidase Deficiency Disease
Tyrosinosis, Oculocutaneous Type
4-Hydroxyphenylpyruvic Acid Oxidase Deficiency
Fumarylacetoacetase Deficiencies
Type III Tyrosinemias
Deficiency, Tat
Syndrome, Richner-Hanhart
Hypertyrosinemias, Type I
Diseases, Fumarylacetoacetase Deficiency
Richner-Hanhart Syndrome
Tyrosinemias, Type II
Hereditary Tyrosinemia, Type II
Deficiency, 4-Hydroxyphenylpyruvate Dioxygenase
Deficiency, Fumarylacetoacetase
Tyrosine Aminotransferase Deficiency
Deficiencies, Fumarylacetoacetase
Deficiency Disease, 4-Hydroxyphenol Pyruvic Acid Oxidase
Hypertyrosinemia, Type I
Type 2 Tyrosinemias
Oregon Type Tyrosinemia
Dioxygenase Deficiencies, 4-Hydroxyphenylpyruvate
Type Tyrosinosis, Oculocutaneous
Tyrosine Transaminase Deficiency
Fumarylacetoacetase Deficiency Disease
Hereditary Tyrosinemia, Type I
Oculocutaneous Type Tyrosinosis
Deficiency Diseases, Fumarylacetoacetase
Type I Tyrosinemia
Tyrosinemia, Type I
Tat Deficiencies
Hepatorenal Tyrosinemias
Deficiency Disease, Fumarylacetoacetase
Tyrosine Transaminase Deficiency Disease
4 Hydroxyphenol Pyruvic Acid Oxidase Deficiency Disease
Hereditary Tyrosinemias
Richner-Hanhart Syndrome, Tyrosinosis, Oculocutaneous Type
Type III Tyrosinemia
4-Hydroxyphenylpyruvate Dioxygenase Deficiency
Disease, Fumarylacetoacetase Deficiency
Keratosis Palmoplantaris with Corneal Dystrophy
Deficiency Disease, 4 Hydroxyphenol Pyruvic Acid Oxidase
4 Hydroxyphenylpyruvate Dioxygenase Deficiency Disease
Richner-Hanhart Syndromes
Deficiency Disease, Tyrosine Transaminase
Tyrosinemia, Type II
Tyrosinemia, Hepatorenal
Tyrosinemia
Richner Hanhart Syndrome
Hereditary Tyrosinemia, Type III
Hepatorenal Tyrosinemia
Type Tyrosinoses, Oculocutaneous
Deficiencies, Tat
Hereditary Tyrosinemia
Tyrosinemia, Hereditary
Type II Tyrosinemias
Tyrosinemias, Type III
Oculocutaneous Type Tyrosinoses
Syndromes, Richner-Hanhart
Type II Tyrosinemia
2 Tyrosinemias, Type
Fumarylacetoacetase Deficiency Diseases
Type I Hypertyrosinemias
Tyrosinemias, Type I
Type I Tyrosinemias
Deficiencies, 4-Hydroxyphenylpyruvate Dioxygenase
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Type | http://www.w3.org/2002/07/owl#Class |
All Properties
definition | A group of disorders which have in common elevations of tyrosine in the blood and urine secondary to an enzyme deficiency. Type I tyrosinemia features episodic weakness, self-mutilation, hepatic necrosis, renal tubular injury, and seizures and is caused by a deficiency of the enzyme fumarylacetoacetase. Type II tyrosinemia features INTELLECTUAL DISABILITY, painful corneal ulcers, and keratoses of the palms and plantar surfaces and is caused by a deficiency of the enzyme TYROSINE TRANSAMINASE. Type III tyrosinemia features INTELLECTUAL DISABILITY and is caused by a deficiency of the enzyme 4-HYDROXYPHENYLPYRUVATE DIOXYGENASE. (Menkes, Textbook of Child Neurology, 5th ed, pp42-3) |
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altLabel |
Dioxygenase Deficiency, 4-Hydroxyphenylpyruvate
Hypertyrosinemia
Tyrosinemias, Hepatorenal
Tyrosinemias, Hereditary
Type I Hypertyrosinemia
Tyrosinemia Type 1s
Tyrosinemia, Type III
Type 2 Tyrosinemia
Tyrosinemias, Type 2
Tyrosinemia Type 1
Tyrosinemia, Type 2
Fumarylacetoacetase Deficiency
Tyrosinoses, Oculocutaneous Type
Tat Deficiency
4-Hydroxyphenol Pyruvic Acid Oxidase Deficiency Disease
Tyrosinosis, Oculocutaneous Type
4-Hydroxyphenylpyruvic Acid Oxidase Deficiency
Fumarylacetoacetase Deficiencies
Type III Tyrosinemias
Deficiency, Tat
Syndrome, Richner-Hanhart
Hypertyrosinemias, Type I
Diseases, Fumarylacetoacetase Deficiency
Richner-Hanhart Syndrome
Tyrosinemias, Type II
Hereditary Tyrosinemia, Type II
Deficiency, 4-Hydroxyphenylpyruvate Dioxygenase
Deficiency, Fumarylacetoacetase
Tyrosine Aminotransferase Deficiency
Deficiencies, Fumarylacetoacetase
Deficiency Disease, 4-Hydroxyphenol Pyruvic Acid Oxidase
Hypertyrosinemia, Type I
Type 2 Tyrosinemias
Oregon Type Tyrosinemia
Dioxygenase Deficiencies, 4-Hydroxyphenylpyruvate
Type Tyrosinosis, Oculocutaneous
Tyrosine Transaminase Deficiency
Fumarylacetoacetase Deficiency Disease
Hereditary Tyrosinemia, Type I
Oculocutaneous Type Tyrosinosis
Deficiency Diseases, Fumarylacetoacetase
Type I Tyrosinemia
Tyrosinemia, Type I
Tat Deficiencies
Hepatorenal Tyrosinemias
Deficiency Disease, Fumarylacetoacetase
Tyrosine Transaminase Deficiency Disease
4 Hydroxyphenol Pyruvic Acid Oxidase Deficiency Disease
Hereditary Tyrosinemias
Richner-Hanhart Syndrome, Tyrosinosis, Oculocutaneous Type
Type III Tyrosinemia
4-Hydroxyphenylpyruvate Dioxygenase Deficiency
Disease, Fumarylacetoacetase Deficiency
Keratosis Palmoplantaris with Corneal Dystrophy
Deficiency Disease, 4 Hydroxyphenol Pyruvic Acid Oxidase
4 Hydroxyphenylpyruvate Dioxygenase Deficiency Disease
Richner-Hanhart Syndromes
Deficiency Disease, Tyrosine Transaminase
Tyrosinemia, Type II
Tyrosinemia, Hepatorenal
Tyrosinemia
Richner Hanhart Syndrome
Hereditary Tyrosinemia, Type III
Hepatorenal Tyrosinemia
Type Tyrosinoses, Oculocutaneous
Deficiencies, Tat
Hereditary Tyrosinemia
Tyrosinemia, Hereditary
Type II Tyrosinemias
Tyrosinemias, Type III
Oculocutaneous Type Tyrosinoses
Syndromes, Richner-Hanhart
Type II Tyrosinemia
2 Tyrosinemias, Type
Fumarylacetoacetase Deficiency Diseases
Type I Hypertyrosinemias
Tyrosinemias, Type I
Type I Tyrosinemias
Deficiencies, 4-Hydroxyphenylpyruvate Dioxygenase
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prefLabel | Tyrosinemias
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TH |
OMIM (2013)
NLM (2000)
NLM (2012)
NLM (2013)
NLM (2014)
ORD (2010)
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notation | D020176
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DX | 20000101
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Machine permutation | 2000
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MN |
C10.228.140.163.100.875
C18.452.132.100.875
C16.320.565.189.875
C18.452.648.189.875
C18.452.648.100.880
C16.320.565.100.880
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MMR | 20160628
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Mapped from | |
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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HN | 2000
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subClassOf | |
Semantic type UMLS property | |
DC | 1
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MDA | 19991104
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Inverse of RO | |
type | |
tui | T047
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cui |
C0268486
C0268623
C0268487
C0268490
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AN | note X refs: consider also TYROSINE TRANSAMINASE /defic or other enzymes /defic
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Inverse of AQ |
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TERMUI |
T781172
T812226
T370826
T370832
T370838
T824030
T812225
T824034
T370830
T824033
T812231
T824031
T370837
T842632
T824032
T812243
T842631
T842630
T370827
T781171
T370825
T370833
T370836
T370829
T370831
T812244
T370839
T824029
T781170
T370828
T370834
T358654
T370835
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