Tyrosinemia, Type Iii disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

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Aliases & Classifications for Tyrosinemia, Type Iii

MalaCards integrated aliases for Tyrosinemia, Type Iii:

Name: Tyrosinemia, Type Iii ⁵⁷ ¹³ ⁴⁰ ⁷³

4-Hydroxyphenylpyruvate Dioxygenase Deficiency ⁵⁷ ⁵³ ⁷⁵ ²⁹ ⁶

Tyrosinemia Type Iii ¹² ⁵³ ⁵⁹ ⁷⁵ ¹⁵

4-Hydroxyphenylpyruvic Acid Oxidase Deficiency ⁵⁷ ⁷⁵

Tyrosinemia Type 3 ⁵³ ⁵⁹

Tyrsn3 ⁵⁷ ⁷⁵

Tyrosinemia Due to 4-Hydroxyphenylpyruvate Dioxygenase Deficiency ⁵⁹

Tyrosinemia Due to 4-Hydroxyphenylpyruvic Acid Oxidase Deficiency ⁵⁹

4-Alpha Hydroxyphenylpyruvate Dioxygenase Deficiency ⁵³

4-Alpha Hydroxyphenylpyruvic Acid Oxidase Deficiency ⁵³

4-Hydroxyphenylpyruvate Dioxygenase ¹³

Tyrosinemia Due to Hpd Deficiency ⁵⁹

Tyrosinemia 3 ⁷⁵

Characteristics:

Orphanet epidemiological data:

⁵⁹

tyrosinemia type 3
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

⁵⁷

Inheritance:
autosomal recessive

Miscellaneous:
allelic to hawkinsinuria

HPO:

³²

tyrosinemia, type iii:
Inheritance autosomal recessive inheritance

Classifications:

MalaCards categories:
Global: Genetic diseases Rare diseases Metabolic diseases
Anatomical: Eye diseases Skin diseases Endocrine diseases Gastrointestinal diseases Neuronal diseases Liver diseases Nephrological diseases

See all MalaCards categories (disease lists)

ICD10: ³⁴

Endocrine, nutritional and metabolic diseases

Metabolic disorders

Disorders of aromatic amino-acid metabolism

Disorders of tyrosine metabolism

Orphanet: ⁵⁹

Inborn errors of metabolism

External Ids:

OMIM ⁵⁷ 276710

Disease Ontology ¹² DOID:0050727

Orphanet ⁵⁹ ORPHA69723

UMLS via Orphanet ⁷⁴ C0268623

ICD10 via Orphanet ³⁴ E70.2

MedGen ⁴² C0268623

MeSH ⁴⁴ D020176

SNOMED-CT via HPO ⁶⁹ 258211005 128613002 246545002 more

UMLS ⁷³ C0268623

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Summaries for Tyrosinemia, Type Iii

NIH Rare Diseases : ⁵³ Tyrosinemia type 3 is a genetic disorder characterized by elevated blood levels of the amino acid tyrosine, a building block of most proteins. This condition is caused by a deficiency of the enzyme 4-hydroxyphenylpyruvate dioxygenase, one of the enzymes required for the multi-step process that breaks down tyrosine. This enzyme shortage is caused by mutations in the HPD gene. Characteristic features include intellectual disability, seizures, and periodic loss of balance and coordination (intermittent ataxia). Tyrosinemia type 3 is inherited in an autosomal recessive manner.

MalaCards based summary : Tyrosinemia, Type Iii, also known as 4-hydroxyphenylpyruvate dioxygenase deficiency, is related to tyrosinemia and hawkinsinuria, and has symptoms including seizures An important gene associated with Tyrosinemia, Type Iii is HPD (4-Hydroxyphenylpyruvate Dioxygenase), and among its related pathways/superpathways are Amino Acid metabolism and Histidine, lysine, phenylalanine, tyrosine, proline and tryptophan catabolism. The drug Nitisinone has been mentioned in the context of this disorder. Affiliated tissues include liver, kidney and neutrophil, and related phenotypes are seizures and intellectual disability, mild

OMIM : ⁵⁷ Tyrosinemia type III is an autosomal recessive disorder caused by a deficiency in the activity of 4-hydroxyphenylpyruvate dioxygenase (HPD) and is characterized by elevated levels of blood tyrosine and massive excretion of its derivatives into urine. Patients with this disorder have mild mental retardation and/or convulsions, with the absence of liver damage (summary by Tomoeda et al., 2000). (276710)

UniProtKB/Swiss-Prot : ⁷⁵ Tyrosinemia 3: An inborn error of metabolism characterized by elevations of tyrosine in the blood and urine, seizures and mild mental retardation.

Disease Ontology : ¹² A tyrosinemia that has material basis in deficiency of 4-hydroxyphenylpyruvate dioxygenase disrupting the break down of tyrosine.

Wikipedia : ⁷⁶ Tyrosinemia type III is a rare disorder caused by a deficiency of the enzyme 4-hydroxyphenylpyruvate... more...

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Related Diseases for Tyrosinemia, Type Iii

Diseases in the Tyrosinemia family:

Tyrosinemia, Type Ii	Tyrosinemia, Type I
Tyrosinemia, Type Iii

Diseases related to Tyrosinemia, Type Iii via text searches within MalaCards or GeneCards Suite gene sharing:

#	Related Disease	Score	Top Affiliating Genes
1	tyrosinemia	28.7	FAH HPD TAT
2	hawkinsinuria	9.8
3	status epilepticus	9.8
4	morquio syndrome	9.8
5	tyrosinemia, type ii	9.3	FAH TAT
6	alkaptonuria	9.3	FAH HPD
7	tyrosinemia, type i	9.1	FAH HPD

Graphical network of the top 20 diseases related to Tyrosinemia, Type Iii:

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Symptoms & Phenotypes for Tyrosinemia, Type Iii

Symptoms via clinical synopsis from OMIM:

⁵⁷

Abdomen Liver:
normal liver function

Laboratory Abnormalities:
4-hydroxyphenylpyruvic acid dioxygenase deficiency (hpd)
tyrosinemia
4-hydroxyphenylpyruvic aciduria
4-hydroxyphenyllactic aciduria
4-hydroxyphenylacetic aciduria

Neurologic Central Nervous System:
mental retardation, mild
seizures

Clinical features from OMIM:

276710

Human phenotypes related to Tyrosinemia, Type Iii:

³² (show all 6)

#	Description	HPO Source Accession
1	seizures ³²	HP:0001250
2	intellectual disability, mild ³²	HP:0001256
3	abnormality of the liver ³²	HP:0001392
4	4-hydroxyphenylpyruvic aciduria ³²	HP:0003161
5	hypertyrosinemia ³²	HP:0003231
6	4-hydroxyphenylacetic aciduria ³²	HP:0003607

UMLS symptoms related to Tyrosinemia, Type Iii:

seizures

MGI Mouse Phenotypes related to Tyrosinemia, Type Iii:

⁴⁶

#	Description	MGI Source Accession	Score	Top Affiliating Genes
1	renal/urinary system	MP:0005367	8.8	FAH GALNS HPD

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Drugs & Therapeutics for Tyrosinemia, Type Iii

Drugs for Tyrosinemia, Type Iii (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

#

Name

Status

Phase

Clinical Trials

Cas Number

PubChem Id

1

Nitisinone

Approved, Investigational

Phase 2, Phase 3,Phase 3,Phase 1

104206-65-7

115355

Synonyms:

104206-65-7

2-(2-nitro-4-(Trifluoromethyl)benzoyl)cyclohexane-1,3-dione

2-(2-nitro-4-trifluoromethylbenzoyl)-1,3-cyclohexanedione

2-(2-nitro-4-Trifluoromethylbenzoyl)-1,3-cyclohexanedione

2-(2-Nitro-4-trifluoromethylbenzoyl)cyclohexane-1,3-dione

2-(a,a,a-trifluoro-2-nitro-P-Tuluoyl)-1,3-cyclohexanedione

2-(alpha,alpha,alpha-trifluoro-2-nitro-P-Tuluoyl)-1,3-cyclohexanedione

2-(alpha,alpha,alpha-Trifluoro-2-nitro-p-tuluoyl)-1,3-cyclohexanedione

2-(Alpha,alpha,alpha-trifluoro-2-nitro-p-tuluoyl)-1,3-cyclohexanedione

2-(α,α,α-trifluoro-2-nitro-P-tuluoyl)-1,3-cyclohexanedione

2-[2-nitro-4-(trifluoromethyl)benzoyl]cyclohexane-1,3-dione

2-{[2-nitro-4-(trifluoromethyl)phenyl]carbonyl}cyclohexane-1,3-dione

AC1L3GZK

BIDD:PXR0129

C14H10F3NO5

CHEBI:50378

CHEMBL1337

CID115355

D05177

DB00348

FE-0200

LS-56815

nitisinona

Nitisinona

Nitisinone

Nitisinone (JAN/USAN/INN)

Nitisinone (NTBC)

Nitisinone [INN]

Nitisinone [USAN:INN]

nitisinonum

Nitisinonum

Nitisone

NTBC CPD

Orfadin

Orfadin (TN)

SC 0735

UNII-K5BN214699

Interventional clinical trials:

(show all 11)

#	Name	Status	NCT ID	Phase	Drugs
1	Nitisinone (NTBC) In Different Age Groups Of Patients With Alkaptonuria	Unknown status	NCT01390077	Phase 2, Phase 3	Nitisinone
2	Efficacy and Safety of Once Daily Dosing Compared to Twice Daily Dosing of Nitisinone in HT-1	Completed	NCT02323529	Phase 3	Nitisinone
3	Phase II Study of the Enzyme Inhibitor NTBC for Tyrosinemia Type I	Completed	NCT00004333	Phase 2	NTBC
4	Bioequivalence Study of Two Oral Nitisinone Formulations to Treat Hereditary Tyrosinemia (HT-1)	Completed	NCT02750345	Phase 1	Nitisinone;Nitisinone Baked Tablet;Orfadin
5	Bioavailability Food-Effect Study of an Oral Nitisinone Formulation to Treat Hereditary Tyrosinemia (HT-1)	Completed	NCT02750332	Phase 1	Nitisinone
6	Taste and Palatability of Orfadin Suspension	Completed	NCT01734889	Phase 1	Nitisinone
7	Bioequivalence Study of Two Nitisinone Formulations Compared to Orfadin	Completed	NCT02750709	Phase 1	Nitisinone;Nitisinone 10 mg Tablet High Compritol;Orfadin
8	Study of NTBC for Tyrosinemia I	Completed	NCT00004443	Not Applicable	NTBC
9	Hereditary Hepatorenal Tyrosinemia Natural History in Egypt and the Arab World (Multicenter Clinical Study)	Recruiting	NCT03446586
10	Biomarker for the Early Diagnosis and Monitoring in Tyrosinemia Type 1	Recruiting	NCT03284658
11	Long Term Safety Study of Orfadin Treatment in HT-1 Patients in Standard Clinical Care	Recruiting	NCT02320084		Nitisinone

Search NIH Clinical Center for Tyrosinemia, Type Iii

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Genetic Tests for Tyrosinemia, Type Iii

Genetic tests related to Tyrosinemia, Type Iii:

#	Genetic test	Affiliating Genes
1	4-Hydroxyphenylpyruvate Dioxygenase Deficiency ²⁹	HPD

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Anatomical Context for Tyrosinemia, Type Iii

MalaCards organs/tissues related to Tyrosinemia, Type Iii:

⁴¹

Liver, Kidney, Neutrophil, Bone

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Publications for Tyrosinemia, Type Iii

Articles related to Tyrosinemia, Type Iii:

#	Title	Authors	Year
1	Markers of cognitive function in individuals with metabolic disease: Morquio syndrome and tyrosinemia type III. ( 29741470 )	Blundell J....Olson A.	2018
2	A Case of Tyrosinemia Type III with Status Epilepticus and Mental Retardation. ( 29456978 )	Najafi R....Hashemipour M.	2018
3	Tyrosinemia Type III detected via neonatal screening: management and outcome. ( 23036342 )	Heylen E....Nassogne M.C.	2012
4	Increased nitric oxide release by neutrophils of a patient with tyrosinemia type III. ( 18657947 )	D'Eufemia P....Zicari A.	2009
5	Mutations in the 4-hydroxyphenylpyruvic acid dioxygenase gene are responsible for tyrosinemia type III and hawkinsinuria. ( 11073718 )	Tomoeda K....Endo F.	2000
6	Mutations in the 4-hydroxyphenylpyruvate dioxygenase gene (HPD) in patients with tyrosinemia type III. ( 10942115 )	Rueetschi U....Holme E.	2000
7	Tyrosinemia type III: diagnosis and ten-year follow-up. ( 9343288 )	Cerone R....Romano C.	1997
8	Chronic tyrosinemia associated with 4-hydroxyphenylpyruvate dioxygenase deficiency with acute intermittent ataxia and without visceral and bone involvement. ( 6132360 )	Giardini O....D'Eufemia P.	1983

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Genes for Tyrosinemia, Type Iii

Genes related to Tyrosinemia, Type Iii (1 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	HPD	4-Hydroxyphenylpyruvate Dioxygenase	Protein Coding	1675.62	Molecular basis known ⁵⁷ Pathogenic ⁶ Causative germline mutation (loss of function) ⁵⁹ Causative variation ⁷⁵ Genetic Tests ²⁹ DISEASES inferred ¹⁵ GeneCards inferred via : Publications (show sections)	10942115 9343288
2	EN1	Engrailed Homeobox 1	Protein Coding	15.9	DISEASES inferred ¹⁵ GeneCards inferred via : DISEASES inferred (show sections)
3	GALNS	Galactosamine (N-Acetyl)-6-Sulfatase	Protein Coding	15.72	DISEASES inferred ¹⁵ GeneCards inferred via : DISEASES inferred (show sections)
4	FAH	Fumarylacetoacetate Hydrolase	Protein Coding	15.56	DISEASES inferred ¹⁵ GeneCards inferred via : DISEASES inferred (show sections)
5	TAT	Tyrosine Aminotransferase	Protein Coding	15.53	DISEASES inferred ¹⁵ GeneCards inferred via : DISEASES inferred (show sections)

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Variations for Tyrosinemia, Type Iii

UniProtKB/Swiss-Prot genetic disease variations for Tyrosinemia, Type Iii:

⁷⁵

#	Symbol	AA change	Variation ID	SNP ID
1	HPD	p.Tyr160Cys	VAR_015445	rs137852865
2	HPD	p.Ala268Val	VAR_015447
3	HPD	p.Ile335Met	VAR_015448

ClinVar genetic disease variations for Tyrosinemia, Type Iii:

⁶

(show all 30)

#	Gene	Variation	Type	Significance	SNP ID	Assembly	Location
1	HPD	NM_001171993.1(HPD): c.362A> G (p.Tyr121Cys)	single nucleotide variant	Pathogenic	rs137852865	GRCh37	Chromosome 12, 122287632: 122287632
2	HPD	NM_001171993.1(HPD): c.362A> G (p.Tyr121Cys)	single nucleotide variant	Pathogenic	rs137852865	GRCh38	Chromosome 12, 121849726: 121849726
3	HPD	NM_001171993.1(HPD): c.657T> G (p.Tyr219Ter)	single nucleotide variant	Pathogenic	rs137852866	GRCh37	Chromosome 12, 122284825: 122284825
4	HPD	NM_001171993.1(HPD): c.657T> G (p.Tyr219Ter)	single nucleotide variant	Pathogenic	rs137852866	GRCh38	Chromosome 12, 121846919: 121846919
5	HPD	NM_001171993.1(HPD): c.483C> G (p.Tyr161Ter)	single nucleotide variant	Pathogenic	rs137852867	GRCh37	Chromosome 12, 122285117: 122285117
6	HPD	NM_001171993.1(HPD): c.483C> G (p.Tyr161Ter)	single nucleotide variant	Pathogenic	rs137852867	GRCh38	Chromosome 12, 121847211: 121847211
7	HPD	NM_002150.2(HPD): c.414G> A (p.Thr138=)	single nucleotide variant	Benign	rs140788110	GRCh37	Chromosome 12, 122292609: 122292609
8	HPD	NM_002150.2(HPD): c.414G> A (p.Thr138=)	single nucleotide variant	Benign	rs140788110	GRCh38	Chromosome 12, 121854703: 121854703
9	HPD	NM_002150.2(HPD): c.1018G> T (p.Val340Leu)	single nucleotide variant	Benign/Likely benign	rs36023382	GRCh37	Chromosome 12, 122277891: 122277891
10	HPD	NM_002150.2(HPD): c.1018G> T (p.Val340Leu)	single nucleotide variant	Benign/Likely benign	rs36023382	GRCh38	Chromosome 12, 121839985: 121839985
11	HPD	NM_002150.2(HPD): c.338G> A (p.Arg113Gln)	single nucleotide variant	Benign	rs11833399	GRCh37	Chromosome 12, 122292685: 122292685
12	HPD	NM_002150.2(HPD): c.338G> A (p.Arg113Gln)	single nucleotide variant	Benign	rs11833399	GRCh38	Chromosome 12, 121854779: 121854779
13	HPD	NM_002150.2(HPD): c.813C> T (p.Thr271=)	single nucleotide variant	Benign	rs144416002	GRCh37	Chromosome 12, 122284786: 122284786
14	HPD	NM_002150.2(HPD): c.813C> T (p.Thr271=)	single nucleotide variant	Benign	rs144416002	GRCh38	Chromosome 12, 121846880: 121846880
15	HPD	NM_002150.2(HPD): c.499G> A (p.Asp167Asn)	single nucleotide variant	Benign/Likely benign	rs74820788	GRCh37	Chromosome 12, 122287612: 122287612
16	HPD	NM_002150.2(HPD): c.499G> A (p.Asp167Asn)	single nucleotide variant	Benign/Likely benign	rs74820788	GRCh38	Chromosome 12, 121849706: 121849706
17	HPD	NC_000012.12: g.(?_121843690)_(121847234_?)del	deletion	Pathogenic		GRCh38	Chromosome 12, 121843690: 121847234
18	HPD	NC_000012.12: g.(?_121843690)_(121847234_?)del	deletion	Pathogenic		GRCh37	Chromosome 12, 122281596: 122285140
19	HPD	NM_002150.2(HPD): c.760-7C> T	single nucleotide variant	Likely benign	rs748133768	GRCh38	Chromosome 12, 121846940: 121846940
20	HPD	NM_002150.2(HPD): c.760-7C> T	single nucleotide variant	Likely benign	rs748133768	GRCh37	Chromosome 12, 122284846: 122284846
21	HPD	NM_002150.2(HPD): c.109T> C (p.Cys37Arg)	single nucleotide variant	Uncertain significance		GRCh37	Chromosome 12, 122295323: 122295323
22	HPD	NM_002150.2(HPD): c.109T> C (p.Cys37Arg)	single nucleotide variant	Uncertain significance		GRCh38	Chromosome 12, 121857417: 121857417
23	HPD	NC_000012.12: g.(?_121839708)_(121840068_?)del	deletion	Uncertain significance		GRCh37	Chromosome 12, 122277614: 122277974
24	HPD	NC_000012.12: g.(?_121839708)_(121840068_?)del	deletion	Uncertain significance		GRCh38	Chromosome 12, 121839708: 121840068
25	HPD	NM_002150.2(HPD): c.1151delT (p.Met384Argfs)	deletion	Uncertain significance		GRCh38	Chromosome 12, 121839759: 121839759
26	HPD	NM_002150.2(HPD): c.1151delT (p.Met384Argfs)	deletion	Uncertain significance		GRCh37	Chromosome 12, 122277665: 122277665
27	HPD	NM_002150.2(HPD): c.345C> T (p.Ala115=)	single nucleotide variant	Benign	rs59741465	GRCh37	Chromosome 12, 122292678: 122292678
28	HPD	NM_002150.2(HPD): c.345C> T (p.Ala115=)	single nucleotide variant	Benign	rs59741465	GRCh38	Chromosome 12, 121854772: 121854772
29	HPD	NM_002150.2(HPD): c.75G> A (p.Trp25Ter)	single nucleotide variant	Pathogenic	rs367674632	GRCh37	Chromosome 12, 122295681: 122295681
30	HPD	NM_002150.2(HPD): c.75G> A (p.Trp25Ter)	single nucleotide variant	Pathogenic	rs367674632	GRCh38	Chromosome 12, 121857775: 121857775

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Expression for Tyrosinemia, Type Iii

Search GEO for disease gene expression data for Tyrosinemia, Type Iii.

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Pathways for Tyrosinemia, Type Iii

Pathways related to Tyrosinemia, Type Iii according to GeneCards Suite gene sharing:

#	Super pathways	Score	Top Affiliating Genes
1	Amino Acid metabolism ¹	11.22	FAH TAT
2	Histidine, lysine, phenylalanine, tyrosine, proline and tryptophan catabolism ⁶⁶ Show member pathways 2-amino-3-carboxymuconate semialdehyde degradation to glutaryl-CoA ¹ 2-oxoglutarate decarboxylation to succinyl-CoA ¹ 4-hydroxybenzoate biosynthesis ¹ L-kynurenine degradation ¹ Lysine catabolism ⁶⁶ lysine degradation I (saccharopine pathway) ¹ Phenylalanine and tyrosine catabolism ⁶⁶ Proline catabolism ⁶⁶ proline degradation ¹ Tryptophan catabolism ⁶⁶ tryptophan degradation ¹ tryptophan degradation to 2-amino-3-carboxymuconate semialdehyde ¹ tyrosine degradation ¹	11.22	FAH HPD TAT
3	Tyrosine metabolism ³⁷ Show member pathways Phenylalanine metabolism ³⁷ Phenylalanine, tyrosine and tryptophan biosynthesis ³⁷ Tyrosine metabolism p.1 (dopamine) ²²	10.68	FAH HPD TAT
4	Ubiquinol biosynthesis ⁶⁶ Show member pathways ubiquinol-10 biosynthesis ¹ Ubiquinone and other terpenoid-quinone biosynthesis ³⁷	10.52	HPD TAT

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GO Terms for Tyrosinemia, Type Iii

Biological processes related to Tyrosinemia, Type Iii according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	L-phenylalanine catabolic process	GO:0006559	9.33	FAH HPD TAT
2	aromatic amino acid family metabolic process	GO:0009072	9.13	FAH HPD TAT
3	tyrosine catabolic process	GO:0006572	8.8	FAH HPD TAT

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Sources for Tyrosinemia, Type Iii

¹ BioSystems

² BitterDB

³ CDC

⁴ Cell Signaling Technology

⁵ ClinicalTrials

⁶ ClinVar

⁷ CNVD

⁸ Cochrane Library

⁹ Cosmic

¹⁰ dbSNP

¹¹ DGIdb

¹² Disease Ontology

¹³ diseasecard

¹⁴ DiseaseEnhancer

¹⁵ DISEASES

¹⁶ DrugBank

¹⁷ ExPASy

¹⁸ FDA Approved Drugs

¹⁹ FMA

²⁰ GeneAnalytics

²¹ GeneCards

²² GeneGo (Thomson Reuters)

²³ GeneHancer via GeneCards

²⁴ GeneReviews

²⁵ Genetics Home Reference

²⁶ GenomeRNAi

²⁷ GEO DataSets

²⁸ GO

²⁹ GTR

³⁰ HGMD

³¹ HMDB

³² HPO

³³ ICD10

³⁴ ICD10 via Orphanet

³⁵ ICD9CM

³⁶ IUPHAR

³⁷ KEGG

³⁸ LifeMap

³⁹ LncRNADisease

⁴⁰ LOVD

⁴¹ MalaCards

⁴² MedGen

⁴³ MedlinePlus

⁴⁴ MeSH

⁴⁵ MESH via Orphanet

⁴⁶ MGI

⁴⁷ miR2Disease

⁴⁸ NCBI Bookshelf

⁴⁹ NCI

⁵⁰ NCIt

⁵¹ NDF-RT

⁵² NIH Clinical Center

⁵³ NIH Rare Diseases

⁵⁴ NINDS

⁵⁵ Novoseek

⁵⁶ Novus Biologicals

⁵⁷ OMIM

⁵⁸ OMIM via Orphanet

⁵⁹ Orphanet

⁶⁰ PathCards

⁶¹ PharmGKB

⁶² PubMed

⁶³ PubMed Health

⁶⁴ QIAGEN

⁶⁵ R&D Systems

⁶⁶ Reactome

⁶⁷ Sino Biological

⁶⁸ SNOMED-CT

⁶⁹ SNOMED-CT via HPO

⁷⁰ SNOMED-CT via Orphanet

⁷¹ TGDB

⁷² Tocris

⁷³ UMLS

⁷⁴ UMLS via Orphanet

⁷⁵ UniProtKB/Swiss-Prot

⁷⁶ Wikipedia