Ochronosis disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

MCID: OCH001 MIFTS: 36	Ochronosis Categories: Bone diseases, Rare diseases
Genes Tissues Related diseases Publications Pathways Symptoms & Phenotypes Drugs Expand all tables

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Aliases & Classifications for Ochronosis

MalaCards integrated aliases for Ochronosis:

Name: Ochronosis ¹² ⁷⁷ ⁵⁴ ⁵⁶ ⁴⁵ ¹⁵ ⁷⁴

Classifications:

MalaCards categories:
Global: Rare diseases
Anatomical: Bone diseases

See all MalaCards categories (disease lists)

External Ids:

Disease Ontology ¹² DOID:14223

MeSH ⁴⁵ D009794

NCIt ⁵¹ C84938

SNOMED-CT ⁶⁹ 21924005

ICD10 ³⁴ E70.29

UMLS ⁷⁴ C0028817

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Summaries for Ochronosis

NIH Rare Diseases : ⁵⁴ Ochronosis is the bluish-black or grey-blue discoloration of the skin, especially the ear cartilage, the ocular (eye) tissue, and other body locations. It can occurs in individuals with alkaptonuria, an inherited metabolic disorder; or because of exposure to various substances. Ochronosis typically occurs in adults, but has been reported in children. Ochronosis associated with alkaptonuria is caused by a mutation in the HGD gene, which results in the accumulation and deposition of homogentisic acid (HGA) in cartilage. The affected tissue becomes weak and brittle with time, leading to chronic inflammation, joint pain, and osteoarthritis. Alkaptonuria is inherited in an autosomal recessive manner. Alkaptonuria can be diagnosed based on the symptoms, laboratory testing, and genetic testing. There is no specific treatment for ochronosis associated with alkaptonuria and treatment is based on the symptoms. When ochronosis is due to exposure to substances (called exogenous ochronosis), the condition is not inherited. Exogenous ochronosis is associated with malarial drugs, skin-lightening creams and over-exposure to the sun. Other than the skin findings, there are no other health affects. Exogenous ochronosis is difficult to diagnose. There is no specific treatment for this condition. Several different treatment options are available including prescription skin creams, vitamins, and laser treatments.

MalaCards based summary : Ochronosis is related to alkaptonuria and exogenous ochronosis, and has symptoms including muscle weakness, polydipsia and dry skin. An important gene associated with Ochronosis is HGD (Homogentisate 1,2-Dioxygenase), and among its related pathways/superpathways is Histidine, lysine, phenylalanine, tyrosine, proline and tryptophan catabolism. The drugs Nitisinone and Tyrosine have been mentioned in the context of this disorder. Affiliated tissues include testes, skin and eye.

Disease Ontology : ¹² A connective tissue disease characterized by bluish-brown discoloration of connective tissues that develops from the deposition of homogentisic acid and subsequent oxidation and polymerization reactions.

Wikipedia : ⁷⁷ Ochronosis is a syndrome caused by the accumulation of homogentisic acid in connective tissues. It was... more...

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Related Diseases for Ochronosis

Diseases related to Ochronosis via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 39)

#	Related Disease	Score	Top Affiliating Genes
1	alkaptonuria	33.5	HGD HPD
2	exogenous ochronosis	12.6
3	joint disorders	10.4
4	arthropathy	10.4
5	spondyloarthropathy 1	10.3
6	arthritis	10.3
7	spondylitis	10.3
8	aortic valve disease 2	10.3
9	osteoarthritis	10.3
10	rheumatoid arthritis	10.2
11	prostate calculus	10.2	HGD HPD
12	methemoglobinemia	10.1
13	argyria	10.1
14	aortitis	10.0	MRAP NT5C1B
15	lower urinary tract calculus	10.0	HGD HPD
16	infectious anterior uveitis	10.0	MRAP SAA1
17	renal cell carcinoma, nonpapillary	9.9
18	osteoporosis	9.9
19	mycosis fungoides	9.9
20	diabetes mellitus	9.9
21	heart valve disease	9.9
22	scoliosis	9.9
23	melanoma in congenital melanocytic nevus	9.9
24	open-angle glaucoma	9.9
25	heart disease	9.9
26	chondrocalcinosis	9.9
27	patulous eustachian tube	9.9
28	gout	9.9
29	enthesopathy	9.9
30	dermatitis	9.9
31	contact dermatitis	9.9
32	allergic contact dermatitis	9.9
33	pneumonia	9.9
34	lipid storage disease	9.9
35	depression	9.9
36	pain - chronic	9.9
37	urethral syndrome	9.8	HPD MRAP
38	specific bursitis often of occupational origin	9.8	CD2 MRAP
39	olecranon bursitis	9.8	CD2 MRAP

Graphical network of the top 20 diseases related to Ochronosis:

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Symptoms & Phenotypes for Ochronosis

UMLS symptoms related to Ochronosis:

muscle weakness, polydipsia, dry skin

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Drugs & Therapeutics for Ochronosis

Drugs for Ochronosis (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

Name

Status

Phase

Clinical Trials

Cas Number

PubChem Id

Nitisinone

Approved, Investigational

Phase 2, Phase 3,Phase 3

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

Tyrosine

Approved, Investigational, Nutraceutical

Phase 2

60-18-4

6057

Synonyms:

(-)-a-amino-P-Hydroxyhydrocinnamate

(-)-a-amino-P-Hydroxyhydrocinnamic acid

(-)-alpha-amino-P-Hydroxyhydrocinnamate

(-)-alpha-amino-P-Hydroxyhydrocinnamic acid

(-)-alpha-Amino-p-hydroxyhydrocinnamic acid

(-)-α-amino-P-hydroxyhydrocinnamate

(−)-α-amino-p-hydroxyhydrocinnamic acid

(-)-α-amino-P-hydroxyhydrocinnamic acid

(2S)-2-amino-3-(4-Hydroxyphenyl)propanoate

(2S)-2-amino-3-(4-hydroxyphenyl)propanoic acid

(2S)-2-amino-3-(4-Hydroxyphenyl)propanoic acid

(S)-(-)-Tyrosine

(S)-2-Amino-3-(4-hydroxyphenyl)propionic acid

(S)-2-amino-3-(P-Hydroxyphenyl)propionate

(S)-2-amino-3-(P-Hydroxyphenyl)propionic acid

(S)-2-Amino-3-(p-hydroxyphenyl)propionic acid

(S)-3-(p-Hydroxyphenyl)alanine

(S)-3-(P-Hydroxyphenyl)alanine

(S)-a-amino-4-Hydroxybenzenepropanoate

(S)-a-amino-4-Hydroxy-benzenepropanoate

(S)-a-amino-4-Hydroxybenzenepropanoic acid

(S)-a-amino-4-Hydroxy-benzenepropanoic acid

(S)-alpha-amino-4-Hydroxybenzenepropanoate

(S)-alpha-amino-4-Hydroxy-benzenepropanoate

(S)-alpha-amino-4-Hydroxybenzenepropanoic acid

(S)-alpha-amino-4-Hydroxy-benzenepropanoic acid

(S)-alpha-Amino-4-hydroxybenzenepropanoic acid

(S)-Tyrosine

(S)-α-amino-4-hydroxybenzenepropanoate

(S)-α-amino-4-hydroxybenzenepropanoic acid

140-43-2

1991-85-1

25619-78-7

2-amino-3-(4-Hydroxyphen yl)-2-amino-3-(4-hydroxyphenyl)-propanoate

2-amino-3-(4-Hydroxyphen yl)-2-amino-3-(4-hydroxyphenyl)-propanoic acid

2-Amino-3-(p-hydroxyphenyl)propionic acid

2csm

3-(4-Hydroxyphenyl)-L-alanine

3-(p-Hydroxyphenyl)alanine

46209-14-7

4-hydroxy-L-phenylalanine

4-Hydroxy-L-phenylalanine

4ts1

55520-40-6

60-18-4

93829_FLUKA

93829_SIGMA

AB1002647

AC-11295

AC1L1LPI

AC1Q4U7L

AC1Q4U7M

AI3-09055

alpha-Amino-beta-(4-hydroxyphenyl)propionic acid

AR-1J3457

BB_NC-1194

Benzenepropanoate

Benzenepropanoic acid

beta-(p-Hydroxyphenyl)alanine

bmse000051

C00082

CHEBI:17895

CHEMBL925

CID6057

D00022

DB00135

DB03839

DD69927C-C6A8-4BC6-8E9A-0AB423B176E7

DTY

EINECS 200-460-4

FEMA No. 3736

Free-Form L-Tyrosine

HSDB 2003

H-Tyr-OH

L Tyrosine

L-(-)-Tyrosine

L-2-Amino-3-p-hydroxyphenylpropanoic acid

L-p-Tyrosine

L-P-Tyrosine

LS-2336

L-Tyrosin

L-tyrosine

L-Tyrosine (9CI)

L-Tyrosine (JAN)

L-Tyrosine hydrochloride

L-Tyrosine, homopolymer

L-Tyrosine, monomer

Melanin synthesized from Tyr substrate catalyzed by tyrosinase for 6 hrs

Melanin synthesized from Tyr substrate catalyzed by tyrosinase for 6 hrs, oxidized with hydrogen peroxide

Melanin synthesized from Tyr substrate catalyzed by tyrosinase for 6 hrs, oxidized with hydrogen peroxide, <3 kd fraction

Melanin synthesized from Tyr substrate catalyzed by tyrosinase, brominated with N-bromosuccinimide

Melanin synthesized from Tyr substrate catalyzed by tyrosinase, sulfonated using sulfur trioxide/DMF complex for 1.5-7 hours

MolPort-001-792-016

NCGC00159350-02

NCGC00159350-03

nchembio.105-comp1

nchembio.121-comp7

nchembio.186-comp84

nchembio.284-comp7

nchembio816-comp11

NSC 82624

Para tyrosine

Para-tyrosine

p-Tyrosine

P-Tyrosine

Rxosine

T0550

T3754_SIAL

T4321_SIAL

T4321_SIGMA

T8566_SIGMA

tirosina

Tirosina

Tirosina [Spanish]

tyr

Tyr

TYR NH3+ COOH

tyrosine

Tyrosine

TYROSINE

Tyrosine (USP/INN)

Tyrosine (VAN)

Tyrosine [USAN:INN]

Tyrosine Power

Tyrosine, L- (8CI)

Tyrosine, L isomer

Tyrosine, L-isomer

Tyrosinum

Tyrosinum [Latin]

UNII-42HK56048U

W373605_ALDRICH

Interventional clinical trials:

#	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	Suitability of Nitisinone in Alkaptonuria 2	Active, not recruiting	NCT01916382	Phase 3	Nitisinone
3	Long-Term Study of Nitisinone to Treat Alkaptonuria	Completed	NCT00107783	Phase 2	Nitisinone (NTBC)
4	Dose Response Study of Nitisinone in Alkaptonuria	Completed	NCT01828463	Phase 2	Nitisinone
5	Study of Alkaptonuria	Recruiting	NCT00005909

Search NIH Clinical Center for Ochronosis

Cochrane evidence based reviews: ochronosis

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Genetic Tests for Ochronosis

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Anatomical Context for Ochronosis

MalaCards organs/tissues related to Ochronosis:

⁴²

Testes, Skin, Eye, Heart, Prostate, Bone, Spinal Cord

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Publications for Ochronosis

Articles related to Ochronosis:

(show top 50) (show all 338)

#	Title	Authors	Year
1	Exogenous ochronosis: the failure of depigmenting creams. ( 31046915 )	S?nchez-Mart?nez EM...Mateu-Puchades A	2019
2	Dermpath & Clinic: Exogenous ochronosis. ( 31106765 )	Le Borgne De Lavillandre J...Kanitakis J	2019
3	Ochronosis Presenting as Methemoglobinemia. ( 30229904 )	Hugar SB...Nine J	2019
4	Ochronosis Involvement and Extensity With 18F-FDG PET/CT. ( 30829862 )	Acar E...Birlik M	2019
5	The Dark Side of the Heart: Cardiovascular Manifestation of Ochronosis. ( 30926473 )	Planinc M...Rudez I	2019
6	Raman Spectroscopy identifies differences in ochronotic and non-ochronotic cartilage; a potential novel technique for monitoring ochronosis. ( 31022456 )	Taylor AM...Kerns JG	2019
7	Endogenous ochronosis: when clinical suspicion prevails over histopathology. ( 31046911 )	S?nchez-Mart?nez EM...Mateu-Puchades A	2019
8	Fatal methemoglobinemia complicating alkaptonuria (ochronosis): a rare presentation. ( 29572623 )	Freeman AR...Wills SM	2018
9	Nitisinone arrests ochronosis and decreases rate of progression of Alkaptonuria: Evaluation of the effect of nitisinone in the United Kingdom National Alkaptonuria Centre. ( 30055994 )	Ranganath LR...Gallagher JA	2018
10	No ochronosis was seen at internal thoracic artery with alkaptonuria. ( 30417683 )	Watanabe T...Kawaharada N	2018
11	Dermoscopic and laser confocal features of an exogenous ochronosis case. ( 29963804 )	Constantin MM...Constantin T	2018
12	A case of exogenous ochronosis associated with hydroxychloroquine. ( 30071940 )	Tekg?z E...Y?lmaz S	2018
13	Woman in black: the cardiac ochronosis with severe aortic valve stenosis. ( 29092008 )	Barbato L...Comoglio C	2018
14	Alkaptonuric Ochronosis and the Failure of Regional Cerebral Tissue Oxygen Saturation Monitoring by Two Different Near-infrared Spectroscopy Devices. ( 29395825 )	Namekawa M...Yamashita S	2018
15	Ochronosis of Mitral Valve and Coronary Arteries. ( 29501639 )	Gottschalk BH...Guo L	2018
16	Ocular Ochronosis. ( 29739500 )	Rohrbach JM...R?ck D	2018
17	Ochronosis of the aortic valve. ( 29997987 )	Selvakumar D...Singh T	2018
18	A rare case of ochronosis presenting with cervical compressive myelopathy. ( 30038118 )	Nelanuthala M...Terapalli VK	2018
19	An Osteochondral Allograft in a Patient with Ochronosis: A Case Report. ( 30045078 )	Rocchi V...Fraser MR	2018
20	A case of ochronosis successfully treated with the picosecond laser. ( 30556284 )	M?ndez Baca I...Anuzita A	2018
21	Exogenous Ochronosis in Facial Melasma. ( 28126186 )	C?rdova ME...Arenas R	2017
22	Image Gallery: Dermoscopy as an auxiliary tool in exogenous ochronosis. ( 28833025 )	Jha AK...Lallas A	2017
23	Alkaptonuric Ochronosis. ( 27816602 )	Singh O...Sudhakar Kekre N	2017
24	An unusual cause of chronic low back pain: ochronosis. ( 28491212 )	Alaya Z...Mzabi A	2017
25	Severe Aortic Valve Stenosis Due to Alkaptonuric Ochronosis. ( 28709382 )	El-Sayed Ahmed MM...Aftab M	2017
26	Ochronosis: a close mimic of ankylosing spondylitis. ( 29088416 )	Arya S...Agarwal V	2017
27	A role for interleukins in ochronosis in a chondrocyte in vitro model of alkaptonuria. ( 26474772 )	Mistry JB...Taylor AM	2016
28	Tyrosinase, could it be a missing link in ochronosis in alkaptonuria? ( 27142149 )	Taylor AM...Bleakley A	2016
29	Orthopedic Manifestations of Ochronosis: Pathophysiology, Presentation, Diagnosis, and Management. ( 26844634 )	Gil JA...Waryasz GR	2016
30	The Distribution of Ochronosis in Osteoarthritic Articular Cartilage in a Knee. ( 26855632 )	Vigorita VW...Lucas PA	2016
31	Ochronosis. ( 27197586 )	Zanwar A...Misra R	2016
32	Ochronosis of the knee with secondary osteoarthritis requiring total knee replacement in a patient with cryptogenic organising pneumonia. ( 27207988 )	Jasper J...Jansen J	2016
33	Ochronosis-like condition in a cat. ( 27225969 )	Bryan LK...Mansell JL	2016
34	Senile-onset ochronosis. ( 27320769 )	Akpolat ND...Metin A	2016
35	Ochronosis as Etiology of Requiring Total Knee Arthroplasty-A Case Series. ( 27466876 )	Pierce TP...McInerney VK	2016
36	Alkaptonuric Ochronosis. ( 27734648 )	Saigal R...Saigal S	2016
37	Oxidative stress and mechanisms of ochronosis in alkaptonuria. ( 25733348 )	Braconi D...Santucci A	2015
38	Localized argyria with pseudo-ochronosis. ( 25671447 )	Devins KM...Helm TN	2015
39	Exogenous ochronosis: a comprehensive review of the diagnosis, epidemiology, causes, and treatments. ( 25837718 )	Simmons BJ...Nouri K	2015
40	Pigmented colloid milium associated with exogenous ochronosis in a farmer with long-term exposure to fertilizers. ( 26236412 )	Akhyani M...Ghanadan A	2015
41	Exogenous Ochronosis. ( 26677264 )	Bhattar PA...Gautam MM	2015
42	Erbium-doped yttrium aluminium garnet ablative laser treatment for endogenous ochronosis. ( 25302636 )	Chaptini C...Huilgol SC	2015
43	Black joint and synovia: Histopathological evaluation of degenerative joint disease due to Ochronosis. ( 25869213 )	Doganavsargil B...Oztop F	2015
44	Coexistence of alkaptonuric ochronosis and renal cell carcinoma: an unusual association and report of a case. ( 25885152 )	Panjwani PK...Mohan A	2015
45	Ochronosis and Osteoporosis: A Case Report. ( 25908477 )	Calero Paniagua I...S?nchez Gonz?lez MD	2015
46	Nitisinone Arrests but Does Not Reverse Ochronosis in Alkaptonuric Mice. ( 25940034 )	Keenan CM...Gallagher JA	2015
47	A 61-year-old man with hyperpigmentation. Ochronosis. ( 26269283 )	Rizzo S...Bottio T	2015
48	Ochronosis with subtle histological findings. ( 26515848 )	Vallonthaiel AG...Ramam M	2015
49	In Vivo Confocal Microscopy and Anterior Segment Optic Coherence Tomography Findings in Ocular Ochronosis. ( 26788390 )	Demirkilinc Biler E...Sahin A	2015
50	Alkaptonuric ochronosis. ( 26929770 )	Azami A...Maleki N	2015

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Genes for Ochronosis

Genes related to Ochronosis (0 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	HGD	Homogentisate 1,2-Dioxygenase	Protein Coding	39.62	DISEASES inferred ¹⁵ Novoseek inferred ⁵⁶ GeneCards inferred via : Publications (show sections)	9214216 10461246 16371803 (more) 10340975 10388955 15529343 15931605 12546396 15727283 1495952 12501223 8571731 17213354
2	HPD	4-Hydroxyphenylpyruvate Dioxygenase	Protein Coding	22.21	DISEASES inferred ¹⁵ GeneCards inferred via : Publications (show sections)
3	MRAP	Melanocortin 2 Receptor Accessory Protein	Protein Coding	15.28	DISEASES inferred ¹⁵
4	NT5C1B	5'-Nucleotidase, Cytosolic IB	Protein Coding	15.22	DISEASES inferred ¹⁵
5	AMD1	Adenosylmethionine Decarboxylase 1	Protein Coding	14.06	DISEASES inferred ¹⁵
6	SAA1	Serum Amyloid A1	Protein Coding	13.51	DISEASES inferred ¹⁵
7	CD2	CD2 Molecule	Protein Coding	13.13	DISEASES inferred ¹⁵
8	PI4K2A	Phosphatidylinositol 4-Kinase Type 2 Alpha	Protein Coding	3.82	DISEASES inferred ¹⁵

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Variations for Ochronosis

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Expression for Ochronosis

Search GEO for disease gene expression data for Ochronosis.

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Pathways for Ochronosis

Pathways related to Ochronosis according to GeneCards Suite gene sharing:

#	Super pathways	Score	Top Affiliating Genes
1	Histidine, lysine, phenylalanine, tyrosine, proline and tryptophan catabolism ⁶⁷ Show member pathways 2-amino-3-carboxymuconate semialdehyde degradation to glutaryl-CoA ¹ 2-oxoglutarate decarboxylation to succinyl-CoA ¹ L-kynurenine degradation ¹ Lysine catabolism ⁶⁷ lysine degradation I (saccharopine pathway) ¹ Phenylalanine and tyrosine catabolism ⁶⁷ Proline catabolism ⁶⁷ proline degradation ¹ Tryptophan catabolism ⁶⁷ tryptophan degradation ¹ tryptophan degradation to 2-amino-3-carboxymuconate semialdehyde ¹ tyrosine degradation ¹	10.71	HGD HPD

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GO Terms for Ochronosis

Biological processes related to Ochronosis according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	L-phenylalanine catabolic process	GO:0006559	8.96	HGD HPD
2	tyrosine catabolic process	GO:0006572	8.62	HGD HPD

Molecular functions related to Ochronosis according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	dioxygenase activity	GO:0051213	8.62	HGD HPD

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Sources for Ochronosis

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 EFO

¹⁸ ExPASy

¹⁹ FDA Approved Drugs

²⁰ FMA

²¹ GeneAnalytics

²² GeneCards

²³ GeneGo (Thomson Reuters)

²⁴ GeneHancer via GeneCards

²⁵ GeneReviews

²⁶ Genetics Home Reference

²⁷ GenomeRNAi

²⁸ GEO DataSets

²⁹ GO

³⁰ GTR

³¹ HGMD

³² HMDB

³³ HPO

³⁴ ICD10

³⁵ ICD10 via Orphanet

³⁶ ICD9CM

³⁷ IUPHAR

³⁸ KEGG

³⁹ LifeMap

⁴⁰ LncRNADisease

⁴¹ LOVD

⁴² MalaCards

⁴³ MedGen

⁴⁴ MedlinePlus

⁴⁵ MeSH

⁴⁶ MESH via Orphanet

⁴⁷ MGI

⁴⁸ miR2Disease

⁴⁹ NCBI Bookshelf

⁵⁰ NCI

⁵¹ NCIt

⁵² NDF-RT

⁵³ NIH Clinical Center

⁵⁴ NIH Rare Diseases

⁵⁵ NINDS

⁵⁶ Novoseek

⁵⁷ Novus Biologicals

⁵⁸ OMIM

⁵⁹ OMIM via Orphanet

⁶⁰ Orphanet

⁶¹ PathCards

⁶² PharmGKB

⁶³ PubMed

⁶⁴ PubMed Health

⁶⁵ QIAGEN

⁶⁶ R&D Systems

⁶⁷ Reactome

⁶⁸ Sino Biological

⁶⁹ SNOMED-CT

⁷⁰ SNOMED-CT via HPO

⁷¹ SNOMED-CT via Orphanet

⁷² TGDB

⁷³ Tocris

⁷⁴ UMLS

⁷⁵ UMLS via Orphanet

⁷⁶ UniProtKB/Swiss-Prot

⁷⁷ Wikipedia