Hyperammonaemia (Version 1.21)

Description

Hyperammonaemia eligibility statement:

Hyperammonaemia inclusion criteria (29459)
- Evidence of inborn error of metabolism as demonstrated by findings in at least 2 of the following areas:
  - Clinical presentation
  - Biochemical
  - Haematological
  - Radiological
- Biochemical testing and genetic testing completed for relevant known inborn errors of metabolism

Hyperammonaemia exclusion criteria (29459)

Prior genetic testing guidance (29459)
- Results should have been reviewed for all genetic tests undertaken, including disease-relevant genes in exome sequencing data. The patient is not eligible if they have a molecular diagnosis for their condition. 
- Genetic testing should continue according to routine local practice for this phenotype regardless of recruitment to the project; results of these tests must be submitted via the ‘Genetic investigations’ section of the data capture tool to allow comparison of WGS with current standard testing.  

PLEASE NOTE: The sensitivity of WGS compared to current diagnostic genetic testing has not yet been established. It is therefore important that tests which are clinically indicated under local standard practice continue to be carried out.

Hyperammonaemia prior genetic testing genes (29459)
Testing of the following genes should be carried out PRIOR TO RECRUITMENT where this is in line with current local practice: 
 - Genetic testing completed for relevant known inborn errors of metabolism

Closing statement (29459)
These requirements will be kept under continual review during the main programme and may be subject to change.

Panel Activity

8 reviewers

Ellen McDonagh (Genomics England Curator)

Group: Other
Workplace: Other
Sian Ellard (University of Exeter Medical School)

Group: other
Workplace: other
Peter Clayton (UCL Institute of Child Health)

Group: NHS Genomic Medicine Centre
Workplace: Research lab
Richard Scott (Genomics England Curator)

Group: Other
Workplace: Other
Sarah Leigh (Genomics England Curator)

Group: Other
Workplace: Other
Louise Daugherty (Genomics England Curator)

Group: Other
Workplace: Other
Catherine Snow (Genomics England)

Group: Other
Workplace: Other
Arina Puzriakova (Genomics England Curator)

Group: Other
Workplace: Other

106 Entities

106 reviewed, 42 green

List	Entity	Reviews	Mode of inheritance	Details
Filter Entities 106 Entitiess
Green Green List (high evidence)	ACADM	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert Review Green Illumina TruGenome Clinical Sequencing Services UKGTN Phenotypes Acyl-CoA dehydrogenase, medium chain, deficiency of 201450 Tags
Green Green List (high evidence)	ACADVL	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert Review Green Phenotypes VLCAD deficiency 201475 Tags
Green Green List (high evidence)	ALDH18A1	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Green Phenotypes Cutis laxa, autosomal recessive, type IIIA (Delta-1-pyrroline 5 carboxylic acid synthetase deficiency) 219150 ALDH18A1-related de Barsy syndrome MONDO:0009053 Tags
Green Green List (high evidence)	ARG1	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Radboud University Medical Center, Nijmegen UKGTN Phenotypes Argininemia, OMIM:207800 Tags
Green Green List (high evidence)	ASL	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert Review Green UKGTN Phenotypes Argininosuccinic aciduria 207900 Tags
Green Green List (high evidence)	ASS1	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert Review Green UKGTN Phenotypes Citrullinemia 215700 Tags
Green Green List (high evidence)	AUH	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert Review Green Phenotypes 3-methylglutaconic aciduria, type I 250950 Tags
Green Green List (high evidence)	BCKDHA	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert Review Green Phenotypes Maple syrup urine disease, type Ia 248600 Tags
Green Green List (high evidence)	BCKDHB	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert Review Green Phenotypes Maple syrup urine disease, type Ib 248600 Tags
Green Green List (high evidence)	CA5A	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Hyperammonemia due to carbonic anhydrase VA deficiency 615751 Tags
Green Green List (high evidence)	CPS1	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert Review Green UKGTN Phenotypes Carbamoylphosphate synthetase I deficiency 237300 Tags
Green Green List (high evidence)	CPT1A	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert Review Green Radboud University Medical Center, Nijmegen UKGTN Phenotypes CPT deficiency, hepatic, type IA 255120 Tags
Green Green List (high evidence)	CPT2	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert Review Green Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen UKGTN Phenotypes CPT II deficiency, infantile, OMIM:600649 CPT II deficiency, lethal neonatal, OMIM:608836 Tags
Green Green List (high evidence)	DBT	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert Review Green Phenotypes Maple syrup urine disease, type II 248600 Tags
Green Green List (high evidence)	ETFA	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert Review Green Phenotypes Glutaric acidemia IIA, OMIM:231680 multiple acyl-CoA dehydrogenase deficiency, MONDO:0009282 Tags
Green Green List (high evidence)	ETFB	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert Review Green Phenotypes Glutaric acidemia IIB, OMIM:231680 multiple acyl-CoA dehydrogenase deficiency, MONDO:0009282 Tags
Green Green List (high evidence)	ETFDH	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert Review Green Phenotypes Glutaric acidemia IIC 231680 Tags
Green Green List (high evidence)	GLUD1	4 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen UKGTN Phenotypes Hyperinsulinism-hyperammonemia syndrome, 606762 Tags
Green Green List (high evidence)	HADHA	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert Review Green Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen UKGTN Phenotypes Trifunctional protein deficiency 609015 Tags
Green Green List (high evidence)	HADHB	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert Review Green Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen UKGTN Phenotypes Trifunctional protein deficiency 609015 Tags
Green Green List (high evidence)	HLCS	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert Review Green Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen UKGTN Phenotypes Holocarboxylase synthetase deficiency 253270 Tags
Green Green List (high evidence)	HMGCL	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert Review Green Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen UKGTN Tags
Green Green List (high evidence)	IVD	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert Review Green Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen UKGTN Phenotypes Isovaleric acidemia 243500 Tags
Green Green List (high evidence)	MLYCD	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert Review Green Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen UKGTN Phenotypes malonic aciduria Malonyl-CoA decarboxylase deficiency 248360 Tags
Green Green List (high evidence)	MMAA	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert Review Green Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen UKGTN Phenotypes Methylmalonic aciduria, vitamin B12-responsive 251100 Tags
Green Green List (high evidence)	MMAB	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert Review Green Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen UKGTN Phenotypes Methylmalonic aciduria, vitamin B12-responsive, due to defect in synthesis of adenosylcobalamin, cblB complementation type 251110 Tags
Green Green List (high evidence)	MUT	4 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert Review Green Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen UKGTN Phenotypes Methylmalonic aciduria, mut(0) type 251000 Tags new-gene-name
Green Green List (high evidence)	NAGS	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert Review Green UKGTN Phenotypes N-acetylglutamate synthase deficiency 237310 Tags
Green Green List (high evidence)	OAT	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert Review Expert Review Green Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen UKGTN Phenotypes Gyrate atrophy of choroid and retina with or without ornithinemia 258870 Tags
Green Green List (high evidence)	OTC	3 reviews 1 green	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Emory Genetics Laboratory Expert Review Green Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen UKGTN Phenotypes Ornithine transcarbamylase deficiency, 311250 Tags gene-therapy-trial
Green Green List (high evidence)	PC	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen UKGTN Phenotypes Pyruvate carboxylase deficiency, OMIM:266150 Tags
Green Green List (high evidence)	PCCA	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert Review Green Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen UKGTN Phenotypes Propionicacidemia 606054 Tags
Green Green List (high evidence)	PCCB	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert Review Green Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen UKGTN Phenotypes Propionicacidemia 606054 Tags
Green Green List (high evidence)	POLG	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert Review Green Phenotypes Mitochondrial DNA depletion syndrome 4A (Alpers type) 203700 Tags
Green Green List (high evidence)	PYGM	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert Review Green Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen UKGTN Phenotypes McArdle disease 232600 Tags
Green Green List (high evidence)	SERAC1	3 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert Review Green Phenotypes 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome, OMIM:614739 Hypoglycemia Tags
Green Green List (high evidence)	SLC22A5	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert Review Green Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen UKGTN Phenotypes Carnitine deficiency, systemic primary, OMIM:212140 systemic primary carnitine deficiency disease, MONDO:0008919 Tags
Green Green List (high evidence)	SLC25A13	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert Review Green Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen UKGTN Phenotypes Citrullinemia, adult-onset type II 603471 Tags
Green Green List (high evidence)	SLC25A15	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert Review Green Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen Phenotypes Hyperornithinemia-hyperammonemia-homocitrullinemia syndrome, OMIM:238970 Tags
Green Green List (high evidence)	SLC25A20	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert Review Green Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen UKGTN Phenotypes Carnitine-acylcarnitine translocase deficiency 212138 Tags
Green Green List (high evidence)	SLC7A7	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert Review Green Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen UKGTN Phenotypes Lysinuric protein intolerance 222700 Tags
Green Green List (high evidence)	TMEM70	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert Review Green Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen UKGTN Phenotypes Mitochondrial complex V (ATP synthase) deficiency, nuclear type 2 614052 Tags
Red Red List (low evidence)	ACAD9	3 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert Review Red Phenotypes Mitochondrial complex I deficiency due to ACAD9 deficiency 611126 Reye-like presentation with hyperammonaemia Tags
Red Red List (low evidence)	ACADL	3 reviews 1 red	Not set	Sources Emory Genetics Laboratory Expert Review Red Tags
Red Red List (low evidence)	ACADS	3 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert Review Red Phenotypes Acyl-CoA dehydrogenase, short-chain, deficiency of 201470 SCAD deficiency Tags
Red Red List (low evidence)	ACSF3	2 reviews 1 red	Not set	Sources Emory Genetics Laboratory Tags
Red Red List (low evidence)	AGA	2 reviews 1 red	Not set	Sources Emory Genetics Laboratory Tags
Red Red List (low evidence)	AGL	2 reviews 1 red	Not set	Sources Emory Genetics Laboratory Tags
Red Red List (low evidence)	ARSA	2 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Phenotypes Metachromatic leukodystrophy 250100 Tags
Red Red List (low evidence)	ARSB	2 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Phenotypes Mucopolysaccharidosis type VI (Maroteaux-Lamy) 253200 Tags
Red Red List (low evidence)	ATPAF2	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert Review Red Radboud University Medical Center, Nijmegen Phenotypes Mitochondrial complex V (ATP synthase) deficiency, nuclear type 1 604273 Tags
Red Red List (low evidence)	CD320	3 reviews 1 red	Not set	Sources Emory Genetics Laboratory Tags
Red Red List (low evidence)	CLN3	2 reviews 1 red	Not set	Sources Emory Genetics Laboratory Tags
Red Red List (low evidence)	CLN5	2 reviews 1 red	Not set	Sources Emory Genetics Laboratory Tags
Red Red List (low evidence)	CLN6	2 reviews 1 red	Not set	Sources Emory Genetics Laboratory Tags
Red Red List (low evidence)	CLN8	2 reviews 1 red	Not set	Sources Emory Genetics Laboratory Tags
Red Red List (low evidence)	CYP27A1	2 reviews 1 red	Not set	Sources Emory Genetics Laboratory Tags
Red Red List (low evidence)	DLD	2 reviews 1 red	Not set	Sources Emory Genetics Laboratory Tags
Red Red List (low evidence)	ENO3	2 reviews 1 red	Not set	Sources Emory Genetics Laboratory Tags
Red Red List (low evidence)	G6PC	3 reviews 1 red	Not set	Sources Emory Genetics Laboratory Tags new-gene-name
Red Red List (low evidence)	GAA	2 reviews 1 red	Not set	Sources Emory Genetics Laboratory Tags
Red Red List (low evidence)	GALC	2 reviews 1 red	Not set	Sources Emory Genetics Laboratory Tags
Red Red List (low evidence)	GALNS	2 reviews 1 red	Not set	Sources Emory Genetics Laboratory Tags
Red Red List (low evidence)	GBA	2 reviews 1 red	Not set	Sources Emory Genetics Laboratory Tags
Red Red List (low evidence)	GBE1	2 reviews 1 red	Not set	Sources Emory Genetics Laboratory Tags
Red Red List (low evidence)	GLA	2 reviews 1 red	Not set	Sources Emory Genetics Laboratory Tags
Red Red List (low evidence)	GLB1	2 reviews 1 red	Not set	Sources Emory Genetics Laboratory Tags
Red Red List (low evidence)	GM2A	2 reviews 1 red	Not set	Sources Emory Genetics Laboratory Tags
Red Red List (low evidence)	GNPTAB	2 reviews 1 red	Not set	Sources Emory Genetics Laboratory Tags
Red Red List (low evidence)	GYS1	2 reviews 1 red	Not set	Sources Emory Genetics Laboratory Tags
Red Red List (low evidence)	GYS2	2 reviews 1 red	Not set	Sources Emory Genetics Laboratory Tags
Red Red List (low evidence)	HGSNAT	2 reviews 1 red	Not set	Sources Emory Genetics Laboratory Tags
Red Red List (low evidence)	HMGCS2	3 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert Review Red Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen UKGTN Phenotypes HMG-CoA synthase-2 deficiency 605911 Tags
Red Red List (low evidence)	HYAL1	2 reviews 1 red	Not set	Sources Emory Genetics Laboratory Tags
Red Red List (low evidence)	IDS	2 reviews 1 red	Not set	Sources Emory Genetics Laboratory Tags
Red Red List (low evidence)	IDUA	2 reviews 1 red	Not set	Sources Emory Genetics Laboratory Tags
Red Red List (low evidence)	LIPA	2 reviews 1 red	Not set	Sources Emory Genetics Laboratory Tags
Red Red List (low evidence)	LMBRD1	2 reviews 1 red	Not set	Sources Emory Genetics Laboratory Tags
Red Red List (low evidence)	LPIN1	2 reviews 1 red	Not set	Sources Emory Genetics Laboratory Tags
Red Red List (low evidence)	MAN2B1	2 reviews 1 red	Not set	Sources Emory Genetics Laboratory Tags
Red Red List (low evidence)	MANBA	2 reviews 1 red	Not set	Sources Emory Genetics Laboratory Tags
Red Red List (low evidence)	MCCC1	2 reviews 1 red	Not set	Sources Emory Genetics Laboratory Tags
Red Red List (low evidence)	MCCC2	2 reviews 1 red	Not set	Sources Emory Genetics Laboratory Tags
Red Red List (low evidence)	MCEE	2 reviews 1 red	Not set	Sources Emory Genetics Laboratory Tags
Red Red List (low evidence)	MCOLN1	2 reviews 1 red	Not set	Sources Emory Genetics Laboratory Tags
Red Red List (low evidence)	MFSD8	2 reviews 1 red	Not set	Sources Emory Genetics Laboratory Tags
Red Red List (low evidence)	MMACHC	3 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert Review Red Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen UKGTN Phenotypes Methylmalonic aciduria and homocystinuria, cblC type 277400 Tags
Red Red List (low evidence)	MTR	2 reviews 1 red	Not set	Sources Emory Genetics Laboratory Tags
Red Red List (low evidence)	MTRR	2 reviews 1 red	Not set	Sources Emory Genetics Laboratory Tags
Red Red List (low evidence)	NAGA	2 reviews 1 red	Not set	Sources Emory Genetics Laboratory Tags
Red Red List (low evidence)	NAGLU	2 reviews 1 red	Not set	Sources Emory Genetics Laboratory Tags
Red Red List (low evidence)	NEU1	2 reviews 1 red	Not set	Sources Emory Genetics Laboratory Tags
Red Red List (low evidence)	NPC1	2 reviews 1 red	Not set	Sources Emory Genetics Laboratory Tags
Red Red List (low evidence)	NPC2	2 reviews 1 red	Not set	Sources Emory Genetics Laboratory Tags
Red Red List (low evidence)	OPA3	2 reviews 1 red	Not set	Sources Emory Genetics Laboratory Tags
Red Red List (low evidence)	PFKM	2 reviews 1 red	Not set	Sources Emory Genetics Laboratory Tags
Red Red List (low evidence)	PPT1	2 reviews 1 red	Not set	Sources Emory Genetics Laboratory Tags
Red Red List (low evidence)	PYGL	2 reviews 1 red	Not set	Sources Emory Genetics Laboratory Tags
Red Red List (low evidence)	SGSH	2 reviews 1 red	Not set	Sources Emory Genetics Laboratory Tags
Red Red List (low evidence)	SLC17A5	2 reviews 1 red	Not set	Sources Emory Genetics Laboratory Tags
Red Red List (low evidence)	SLC37A4	2 reviews 1 red	Not set	Sources Emory Genetics Laboratory Tags
Red Red List (low evidence)	SMPD1	2 reviews 1 red	Not set	Sources Emory Genetics Laboratory Tags
Red Red List (low evidence)	SUCLG1	2 reviews 1 red	Not set	Sources Emory Genetics Laboratory Tags
Red Red List (low evidence)	SUMF1	2 reviews 1 red	Not set	Sources Emory Genetics Laboratory Tags
Red Red List (low evidence)	TAZ	3 reviews 1 red	Not set	Sources Emory Genetics Laboratory Tags new-gene-name
Red Red List (low evidence)	TPP1	2 reviews 1 red	Not set	Sources Emory Genetics Laboratory Tags

Hyperammonaemia (Version 1.21)

8 reviewers

106 Entities

106 reviewed, 42 green

3 reviews

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Phenotypes

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3 reviews

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Phenotypes

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2 reviews

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3 reviews

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3 reviews

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2 reviews

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3 reviews

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3 reviews

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3 reviews

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Phenotypes

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2 reviews

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3 reviews

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Phenotypes

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3 reviews

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Phenotypes

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3 reviews

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3 reviews

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Phenotypes

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3 reviews

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3 reviews

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3 reviews

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4 reviews

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3 reviews

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