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

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Aliases & Classifications for Ochronosis

MalaCards integrated aliases for Ochronosis:

Name: Ochronosis ¹¹ ¹⁹ ⁷⁵ ⁵³ ⁴³ ¹⁴ ⁷¹

Classifications:

MalaCards categories:
Global: Rare diseases
Anatomical: Bone diseases

See all MalaCards categories (disease lists)

External Ids:

Disease Ontology ¹¹ DOID:14223

MeSH ⁴³ D009794

NCIt ⁴⁹ C84938

SNOMED-CT ⁶⁸ 21924005

UMLS ⁷¹ C0028817

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Summaries for Ochronosis

GARD: ¹⁹ 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 associated with alkaptonuria is caused by a genetic change 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. 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 may be hard to diagnose.

MalaCards based summary: Ochronosis is related to alkaptonuria and abdominal obesity-metabolic syndrome 1, 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 are Metabolism and Regulation of expression of SLITs and ROBOs. The drugs Nitisinone and D-Tyrosine have been mentioned in the context of this disorder. Affiliated tissues include skin, eye and heart, and related phenotype is pigmentation.

Disease Ontology: ¹¹ 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: ⁷⁵ Ochronosis is a syndrome caused by the accumulation of homogentisic acid in connective tissues. The... more...

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Related Diseases for Ochronosis

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

(show top 50) (show all 167)

#	Related Disease	Score	Top Affiliating Genes
1	alkaptonuria	32.1	TYR HPD HGD FAH
2	abdominal obesity-metabolic syndrome 1	30.0	HGD FAH
3	melanoma in congenital melanocytic nevus	29.4	TYR MITF MC1R
4	tyrosinemia	29.2	TYR HPD HGD FAH
5	exogenous ochronosis	11.6
6	osteoarthritis	10.7
7	arthropathy	10.7
8	aortic valve disease 2	10.5
9	spondyloarthropathy 1	10.3
10	spondylitis	10.3
11	disorder of tyrosine metabolism	10.3
12	aortic valve disease 3	10.3
13	cartilage disease	10.2
14	nephrolithiasis, calcium oxalate	10.2
15	pentosuria	10.2	HPD HGD
16	villonodular synovitis	10.2	NAA50 NAA30
17	neurogenic arthropathy	10.2	NAA50 NAA30
18	spondylosis	10.2
19	back pain	10.2
20	argyria	10.2
21	melanoma, cutaneous malignant 8	10.1	TYR MITF
22	spinal cord melanoma	10.1	TYR MITF
23	uterus perivascular epithelioid cell tumor	10.1	TYR MITF
24	cervix melanoma	10.1	TYR MITF
25	microphthalmia, syndromic 1	10.1	NAA50 NAA30
26	epithelioid cell melanoma	10.1	TYR MITF
27	albinism, ocular, with late-onset sensorineural deafness	10.1	TYR MITF
28	chondrocalcinosis	10.1
29	gout	10.1
30	heart valve disease	10.1
31	inherited metabolic disorder	10.1
32	pigmentation anomaly of the skin	10.1
33	malignant spindle cell melanoma	10.1	TYR MITF
34	waardenburg syndrome, type 4c	10.1	TYR MITF
35	acute contagious conjunctivitis	10.1	TYRP1 TYR
36	acute conjunctivitis	10.1	TYRP1 TYR
37	mucosal melanoma	10.1	TYR MITF
38	waardenburg syndrome, type 2e	10.1	TYR MITF
39	aortic valve disease 1	10.0
40	astigmatism	10.0
41	urolithiasis	10.0
42	ankylosis	10.0
43	aortic valve insufficiency	10.0
44	syndromic microphthalmia	10.0	NAA50 CRYAA
45	pigmentation disease	10.0	TYR MITF
46	waardenburg syndrome, type 1	10.0	TYR MITF
47	lentigines	10.0	TYR MC1R
48	waardenburg syndrome, type 4a	10.0	TYR MITF
49	sarcoidosis 1	9.9
50	hemochromatosis, type 1	9.9

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

MGI Mouse Phenotypes related to Ochronosis:

⁴⁵

#	Description	MGI Source Accession	Score	Top Affiliating Genes
1	pigmentation	MP:0001186	8.92	MC1R MITF TYR TYRP1

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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

1

Nitisinone

Approved, Investigational

Phase 2, Phase 3

104206-65-7

115355

2

D-Tyrosine

Approved, Experimental, Investigational, Nutraceutical

Phase 2

133585-56-5, 60-18-4, 556-02-5

1153 6057

Synonyms:

(-)-a-Amino-p-hydroxyhydrocinnamate

(-)-a-Amino-p-hydroxyhydrocinnamic acid

(-)-alpha-Amino-p-hydroxyhydrocinnamate

(-)-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)PROPIONIC ACID

(2S)-2-AZANYL-3-(4-HYDROXYPHENYL)PROPANOIC ACID

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

(R)-3-(p-Hydroxyphenyl)alanine

(S)-(-)-Tyrosine

(S)-2-Amino-3-(p-hydroxyphenyl)propionate

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

(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)-Tyrosine

(S)-Α-amino-4-hydroxybenzenepropanoate

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

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-(4-hydroxyphenyl)propanoate

2-Amino-3-(4-hydroxyphenyl)propanoic acid

2-Amino-3-(p-hydroxyphenyl)propionate

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

3-(4-Hydroxyphenyl)-L-alanine

3-(p-Hydroxyphenyl)alanine

4-hydroxy-L-phenylalanine

6-Hydroxysandoricin

Benzenepropanoate

Benzenepropanoic acid

D-Tyr

D-Tyrosin

FEMA NO. 3736

L Tyrosine

LEVODOPA IMPURITY, L-TYROSINE-

LEVODOPA RELATED COMPOUND L-TYROSINE

L-p-Tyrosine

L-Tyrosin

L-tyrosine

Methyl 2-[5,11-bis(acetyloxy)-13-(furan-3-yl)-16-hydroxy-6,6,8,12-tetramethyl-17-methylidene-15-oxo-2,14-dioxatetracyclo[7.7.1.0¹,¹².0³,⁸]heptadecan-7-yl]-2-hydroxyacetic acid

NSC-82624

Para tyrosine

Para-tyrosine

p-Tyrosine

Tirosina

Tyr

Tyrosin

Tyrosine

Tyrosine, L isomer

Tyrosine, L-isomer

Tyrosinum

Y

Interventional clinical trials:

#	Name	Status	NCT ID	Phase	Drugs
1	An International, Multicentre, Randomised, Evaluator-blind, No-treatment Controlled, Parallel-group Study to Assess the Efficacy and Safety of Once Daily Nitisinone in Patients With Alkaptonuria After 12 Months of Treatment, Followed by an Additional 36 Month Treatment Period.	Unknown status	NCT01916382	Phase 3	Nitisinone
2	Nitisinone (NTBC) In Different Age Groups Of Patients With Alkaptonuria	Completed	NCT01390077	Phase 2, Phase 3	Nitisinone
3	Long-Term Clinical Trial of Nitisinone in Alkaptonuria	Completed	NCT00107783	Phase 2	Nitisinone (NTBC)
4	An International, Multicentre, Randomised, Open-label, No-treatment Controlled, Parallel-group, Dose-response Study to Investigate the Effect of Once Daily Nitisinone on 24-hour Urinary Homogentisic Acid Excretion in Patients With Alkaptonuria After 4 Weeks Treatment.	Completed	NCT01828463	Phase 2	Nitisinone
5	Clinical, Biochemical, and Molecular Investigations Into Alkaptonuria	Recruiting	NCT00005909
6	Questionnaire Follow=up Study Sonia 2	Recruiting	NCT04510142
7	Determining Individualised Gait Modification Strategies to Reduce Knee Joint Moments in Alkaptonuria Patients Using Real-time Feedback	Not yet recruiting	NCT04142671

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

Organs/tissues related to Ochronosis:

MalaCards : Skin, Eye, Heart, Bone, Spinal Cord, Kidney, Breast

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Publications for Ochronosis

Articles related to Ochronosis:

(show top 50) (show all 786)

#	Title	Authors	PMID	Year
1	Aortic stenosis in cardiovascular ochronosis. ⁵³ ⁶²	Ffolkes LV...Hughes SE	17213354	2007
2	Ochronotic arthropathy: disappearance of alkaptonuria after liver transplantation for hepatitis B-related cirrhosis. ⁵³ ⁶²	Kobak AC...Inal V	16371803	2005
3	Use of nitisinone in patients with alkaptonuria. ⁵³ ⁶²	Suwannarat P...Gahl WA	15931605	2005
4	Alkaptonuric ochronosis: a case report. ⁵³ ⁶²	Collins E...Hand R	15727283	2005
5	Minocycline-induced hyperpigmentation masquerading as alkaptonuria in individuals with joint pain. ⁵³ ⁶²	Suwannarat P...Gahl WA	15529343	2004
6	Alkaptonuria and lumbar disc herniation. Report of three cases. ⁵³ ⁶²	Farzannia A...Hadidchi S	12546396	2003
7	Natural history of alkaptonuria. ⁵³ ⁶²	Phornphutkul C...Gahl WA	12501223	2002
8	Aortic stenosis in endogenous ochronosis. ⁵³ ⁶²	Casselman F...Daenen W	10461246	1999
9	Hereditary ochronosis: hyperpigmented skin overlying cartilaginous structures. ⁵³ ⁶²	Garcia SF...Swetter SM	10388955	1999
10	Ocular ochronosis in alkaptonuria patients carrying mutations in the homogentisate 1,2-dioxygenase gene. ⁵³ ⁶²	Felbor U...Kress W	10340975	1999
11	[Alkaptonuria, prostatic calculi, and ectopic ureter]. ⁵³ ⁶²	Concepcion Masip T...Rodriguez de Minon Cifuentes JL	9214216	1997
12	The clinical manifestations of ochronosis: a review. ⁵³ ⁶²	Van Offel JF...Stevens WJ	8571731	1995
13	Alkaptonuria and renal failure: a case report and review of the literature. ⁵³ ⁶²	Venkataseshan VS...Needle MA	1495952	1992
14	Minocycline induced discoloration of the aortic intima and valve: A case report. ⁶²	O'Connell A...Wang W	36335620	2022
15	A robust bacterial high-throughput screening system to evaluate single nucleotide polymorphisms of human homogentisate 1,2-dioxygenase in the context of alkaptonuria. ⁶²	Lequeue S...De Kock J	36376482	2022
16	Ocular Ochronosis in Alkaptonuria. ⁶²	Giansanti F...Bacherini D	35773072	2022
17	Disc calcifications: Think of ochronosis. ⁶²	Wendling D	35504514	2022
18	[Ochronosis: A case report]. ⁶²	Erraoui K...Janani S	35659777	2022
19	Descemet's membrane folds in ochronosis: a case report. ⁶²	de Azevedo Magalhaes O...Abdel Rahman Abu Hwas D	36183119	2022
20	Exogenous ochronosis successfully treated with the combination of intense pulsed light and fractional CO2 laser. ⁶²	Ceglio WW...Torezan LA	36273949	2022
21	Hyperpigmentation: Looking beyond hydroquinone. ⁶²	Charoo NA	35020267	2022
22	Analysis of the Phenotype Differences in Siblings with Alkaptonuria. ⁶²	Zatkova A...Imrich R	36295892	2022
23	Sarcoidal granuloma on exogenous ochronosis. ⁶²	Tene Ndiaye Diop M...Ly F	35184903	2022
24	Adequacy of nitisinone for the management of alkaptonuria. ⁶²	Abbas K...Rehman MEU	36045846	2022
25	Endogenous Ochronosis: A Rare Entity. ⁶²	Vadera K...Salunke P	36262587	2022
26	Basophilic, Thickened Collagen Bundles Seen in Late-Stage Exogenous Ochronosis. ⁶²	Grube VL...Hafeez F	35234189	2022
27	The Contribution of Imaging Beyond Clinical Diagnosis, the Ochronosis and Synovio-entheseal Complex Examples. ⁶²	Pacini G...Cerinic MM	36465319	2022
28	Exogenous ochronosis associated with hydroquinone: a systematic review. ⁶²	Ishack S...Lipner SR	34486734	2022
29	Total Knee Replacement in Alkaptonuric Ochronosis. ⁶²	Pesciallo C...Del Sel H	35671127	2022
30	Dogliotti and Phillips classifications are unsuitable for grading the histopathological findings of exogenous ochronosis. ⁶²	Ramia de Cap M...Tahan SR	34918365	2022
31	Blue man: Ochronosis in Otolaryngology. ⁶²	Dewan K...Shires CB	35441025	2022
32	Alkaptonuria in Russia. ⁶²	Soltysova A...Zatkova A	34504318	2022
33	THE USE OF NEAR INFRARED SPECTROSCOPY IN ALKAPTONURIA - THE MISLEADING OCHRONOSIS - A CASE REPORT AND LITERATURE REVIEW. ⁶²	Mateus C...Fonte Boa A	35334175	2022
34	Neglected alkaptonuric patient presented with low back pain and radiculopathy: A case report. ⁶²	Vakilzadeh MM...Zare R	35127215	2022
35	Dermoscopy of acquired pigmentary disorders: a comprehensive review. ⁶²	Krueger L...Elbuluk N	34235719	2022
36	Incidental diagnosis of ochronosis by aortic valve replacement. ⁶²	Coban O...Ozsoyler I	35444851	2022
37	Bilateral Breast Ochronosis: a Case Report. ⁶²	AbdulKarim FAJ...Ajmal N	34381863	2021
38	Clinical and Surgical Insights on Bilateral Total Knee Arthroplasty in Ochronotic Arthropathy: A Case-based Review. ⁶²	Saini MK...Saini N	35415137	2021
39	Alkaptonuria: clinical manifestations and an updated approach to treatment of a rare disease. ⁶²	Roopnarinesingh RC...Reynolds JV	34876442	2021
40	Black cartilage: Incidentally discovered articular ochronosis during arthroplasty. ⁶²	Kumps C...Tran C	34264534	2021
41	Occupational Localized Cutaneous Argyria With Pseudo-Ochronosis in a Jeweler. ⁶²	Georgiadou N...Singh M	33606379	2021
42	Perforating and granulomatous exogenous ochronosis. ⁶²	Pei S...Rubin AI	33470444	2021
43	Ochronotic Surprise during Total Knee Replacement! A Case Report. ⁶²	G S...T J	35415103	2021
44	A novel deep intronic variant strongly associates with Alkaptonuria. ⁶²	Lai CY...Lee NC	34686677	2021
45	Ochronotic heart disease leading to severe aortic valve and coronary artery stenosis. ⁶²	Velez AK...Schena S	34120368	2021
46	Homogentisic acid induces cytoskeleton and extracellular matrix alteration in alkaptonuric cartilage. ⁶²	Galderisi S...Santucci A	33469937	2021
47	Black Aorta from Alkaptonuria. ⁶²	Laurent JP...Galvin SD	34715699	2021
48	Evaluating the aortic stenosis phenotype before and after the effect of homogentisic acid lowering therapy: Analysis of a large cohort of eighty-one alkaptonuria patients. ⁶²	Ranganath LR...Fisher MF	34059444	2021
49	Exogenous ochronosis associated with dimethoxytolyl propylresorcinol (UP302). ⁶²	Ramia de Cap M...Tahan SR	34031918	2021
50	Development of an Effective Therapy for Alkaptonuria - Lessons for Osteoarthritis. ⁶²	Gallagher JA...Ranganath LR	36465977	2021

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Genes for Ochronosis

Genes related to Ochronosis (0 elite genes):

(show all 11)

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubMed IDs
1	HGD	Homogentisate 1,2-Dioxygenase	Protein Coding	29.89	DISEASES inferred ¹⁴ Novoseek inferred ⁵³ 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	15.15	DISEASES inferred ¹⁴ GeneCards inferred via : Publications (show sections)
3	NAA30	N-Alpha-Acetyltransferase 30, NatC Catalytic Subunit	Protein Coding	7.3	DISEASES inferred ¹⁴
4	NAA50	N-Alpha-Acetyltransferase 50, NatE Catalytic Subunit	Protein Coding	6.91	DISEASES inferred ¹⁴
5	TYR	Tyrosinase	Protein Coding	6.44	DISEASES inferred ¹⁴
6	MITF	Melanocyte Inducing Transcription Factor	Protein Coding	5.69	DISEASES inferred ¹⁴
7	TYRP1	Tyrosinase Related Protein 1	Protein Coding	5.67	DISEASES inferred ¹⁴
8	CRYAA	Crystallin Alpha A	Protein Coding	5.56	DISEASES inferred ¹⁴ ¹⁴
9	MC1R	Melanocortin 1 Receptor	Protein Coding	5.19	DISEASES inferred ¹⁴
10	FAH	Fumarylacetoacetate Hydrolase	Protein Coding	5.12	DISEASES inferred ¹⁴
11	NT5C1B	5'-Nucleotidase, Cytosolic IB	Protein Coding	4.8	DISEASES inferred ¹⁴

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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	Metabolism ⁶⁶ Show member pathways Metabolism of lipids ⁶⁶	13.34	TYRP1 TYR NT5C1B HPD HGD FAH
2	Regulation of expression of SLITs and ROBOs ⁶⁶ Show member pathways Metabolism of amino acids and derivatives ⁶⁶ Signaling by ROBO receptors ⁶⁶	12.54	TYRP1 TYR HPD HGD FAH
3	Melanocyte Development and Pigmentation ⁶⁴	10.98	MITF MC1R
4	tyrosine degradation ⁶¹ Show member pathways L-tyrosine degradation I ⁶¹ Phenylalanine and tyrosine metabolism ⁶⁶ Phenylalanine metabolism ⁶⁶ Tyrosine catabolism ⁶⁶ Tyrosine metabolism and related disorders ⁷⁴	10.69	HPD HGD FAH
5	GPR143 in melanocytes and retinal pigment epithelium cells ⁷⁴	10.37	TYRP1 TYR MITF MC1R
6	Ac/N-end rule pathway ⁶¹	10.32	NAA50 NAA30
7	Melanin biosynthesis ⁶⁶	9.85	TYRP1 TYR

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GO Terms for Ochronosis

Cellular components related to Ochronosis according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	melanosome membrane	GO:0033162	8.92	TYRP1 TYR

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

#	Name	GO ID	Score	Top Affiliating Genes
1	melanin biosynthetic process	GO:0042438	9.73	TYRP1 TYR MC1R
2	melanocyte differentiation	GO:0030318	9.67	TYRP1 MITF
3	L-phenylalanine catabolic process	GO:0006559	9.63	HPD HGD FAH
4	tyrosine catabolic process	GO:0006572	9.43	HPD HGD FAH
5	aromatic amino acid metabolic process	GO:0009072	9.32	HPD FAH
6	pigmentation	GO:0043473	9.1	TYRP1 TYR MITF MC1R

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

#	Name	GO ID	Score	Top Affiliating Genes
1	oxidoreductase activity	GO:0016491	9.55	TYRP1 TYR HPD HGD
2	acetyltransferase activity	GO:0016407	9.26	NAA50 NAA30
3	peptide alpha-N-acetyltransferase activity	GO:0004596	9.26	NAA50 NAA30
4	tyrosinase activity	GO:0004503	8.92	TYRP1 TYR

Sources

Sources for Ochronosis

¹ BitterDB

² CDC

³ Cell Signaling Technology

⁴ ClinicalTrials

⁵ ClinVar

⁶ CNVD

⁷ Cochrane Library

⁸ Cosmic

⁹ dbSNP

¹⁰ DGIdb

¹¹ Disease Ontology

¹² diseasecard

¹³ DiseaseEnhancer

¹⁴ DISEASES

¹⁵ DrugBank

¹⁶ EFO

¹⁷ ExPASy

¹⁸ FMA

¹⁹ GARD

²⁰ GeneAnalytics

²¹ GeneCards

²² GeneGo (Thomson Reuters)

²³ GeneHancer via GeneCards

²⁴ GeneReviews

²⁵ GenomeRNAi

²⁶ GEO DataSets

²⁷ GO

²⁸ GTR

²⁹ HMDB

³⁰ HPO

³¹ ICD10

³² ICD10 via Orphanet

³³ ICD11

³⁴ ICD9CM

³⁵ IUPHAR

³⁶ LifeMap

³⁷ LncRNADisease

³⁸ LOVD

³⁹ MalaCards

⁴⁰ MedGen

⁴¹ MedlinePlus

⁴² MedlinePlus Genetics

⁴³ MeSH

⁴⁴ MESH via Orphanet

⁴⁵ MGI

⁴⁶ miR2Disease

⁴⁷ NCBI Bookshelf

⁴⁸ NCI

⁴⁹ NCIt

⁵⁰ NDF-RT

⁵¹ NIH Clinical Center

⁵² NINDS

⁵³ Novoseek

⁵⁴ Novus Biologicals

⁵⁵ ODiseA

⁵⁶ OMIM via Orphanet

⁵⁷ OMIM® (Updated 08-Dec-2022)

⁵⁸ Orphanet

⁵⁹ PathCards

⁶⁰ PharmGKB

⁶¹ PubChem

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 Tocris

⁷¹ UMLS

⁷² UMLS via Orphanet

⁷³ UniProtKB/Swiss-Prot

⁷⁴ WikiPathways

⁷⁵ Wikipedia

MCID: OCH001 MIFTS: 38	Ochronosis Categories: Bone diseases, Rare diseases	Data Licensing For inquiries, contact: [email protected]
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