Methemoglobinemia, Beta-Globin Type disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

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Aliases & Classifications for Methemoglobinemia, Beta-Globin Type

MalaCards integrated aliases for Methemoglobinemia, Beta-Globin Type:

Name: Methemoglobinemia, Beta-Globin Type ²⁰ ⁴³ ²⁹ ⁶

Hemoglobin M Disease ²⁰ ⁴³ ⁵⁸ ⁷⁰

Congenital Methemoglobinemia ⁴³ ⁷⁰

Blue Baby Syndrome ²⁰ ⁴³

M Hemoglobinopathy ²⁰ ⁵⁸

Hereditary Methemoglobinemia Due to Hemoglobin Mutation ²⁰

Autosomal Dominant Methemoglobinemia ²⁰

Hemoglobin M ⁶

Characteristics:

Orphanet epidemiological data:

⁵⁸

hemoglobin m disease
Inheritance: Autosomal dominant;

Classifications:

MalaCards categories:
Global: Rare diseases
Anatomical: Blood diseases

See all MalaCards categories (disease lists)

ICD10: ³³

Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism

Other diseases of blood and blood-forming organs

Methaemoglobinaemia

Congenital methaemoglobinaemia

Orphanet: ⁵⁸

Rare haematological diseases

External Ids:

ICD10 via Orphanet ³³ D74.0

Orphanet ⁵⁸ ORPHA330041

UMLS ⁷⁰ C0272087 C3665425

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Summaries for Methemoglobinemia, Beta-Globin Type

MedlinePlus Genetics : ⁴³ Methemoglobinemia, beta-globin type is a condition that affects the function of red blood cells. Specifically, it alters a molecule called hemoglobin within these cells. Hemoglobin within red blood cells attaches (binds) to oxygen molecules in the lungs, which it carries through the bloodstream, then releases in tissues throughout the body. Instead of normal hemoglobin, people with methemoglobinemia, beta-globin type have an abnormal form called methemoglobin, which is unable to efficiently deliver oxygen to the body's tissues. In methemoglobinemia, beta-globin type, the abnormal hemoglobin gives the blood a brown color. It also causes a bluish appearance of the skin, lips, and nails (cyanosis), which usually first appears around the age of 6 months. The signs and symptoms of methemoglobinemia, beta-globin type are generally limited to cyanosis, which does not cause any health problems. However, in rare cases, severe methemoglobinemia, beta-globin type can cause headaches, weakness, and fatigue.

MalaCards based summary : Methemoglobinemia, Beta-Globin Type, also known as hemoglobin m disease, is related to methemoglobinemia, beta type and methemoglobinemia. An important gene associated with Methemoglobinemia, Beta-Globin Type is HBB (Hemoglobin Subunit Beta), and among its related pathways/superpathways are Binding and Uptake of Ligands by Scavenger Receptors and Malaria. Related phenotypes are Increased shRNA abundance (Z-score > 2) and Increased shRNA abundance (Z-score > 2)

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Related Diseases for Methemoglobinemia, Beta-Globin Type

Diseases related to Methemoglobinemia, Beta-Globin Type via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 68)

#	Related Disease	Score	Top Affiliating Genes
1	methemoglobinemia, beta type	30.8	LOC110006319 LOC107133510 LOC106099062 HBB
2	methemoglobinemia	30.0	LOC107133510 LOC106099062 HBB HBA2 HBA1
3	polycythemia	29.3	HBB HBA2
4	splenomegaly	29.2	HBA2 HBA1
5	beta-thalassemia major	29.0	LOC110006319 LOC107133510 LOC106099062 HBB
6	hemolytic anemia	28.6	LOC107133510 LOC106099062 HBB HBA2 HBA1
7	heinz body anemias	28.0	LOC110006319 LOC107133510 LOC106099062 HBB HBA2 HBA1
8	hemoglobinopathy	27.9	LOC110006319 LOC107133510 LOC106099062 HBB HBA2 HBA1
9	beta-thalassemia	27.9	LOC110006319 LOC107133510 LOC106099062 HBB HBA2 HBA1
10	thalassemia	27.9	LOC110006319 LOC107133510 LOC106099062 HBB HBA2 HBA1
11	methemoglobinemia due to deficiency of methemoglobin reductase	11.6
12	congenital methemoglobinemia	11.5
13	methemoglobinemia, alpha type	11.1
14	cyanosis, transient neonatal	10.6
15	methemoglobin reductase deficiency	10.2
16	autosomal recessive disease	10.1
17	microcephaly	10.1
18	dihydrolipoamide dehydrogenase deficiency	10.0
19	methemoglobinemia and ambiguous genitalia	10.0
20	acquired methemoglobinemia	10.0
21	enterocolitis	9.9
22	heart disease	9.9
23	perinatal necrotizing enterocolitis	9.9
24	histiocytosis-lymphadenopathy plus syndrome	9.9	HBB HBA2
25	polycythemia vera	9.8
26	tricuspid atresia	9.8
27	pain agnosia	9.8
28	leukodystrophy	9.8
29	patent foramen ovale	9.8
30	mitral valve stenosis	9.8
31	cerebral palsy	9.8
32	spondylosis	9.8
33	movement disease	9.8
34	dystonia	9.8
35	critical congenital heart disease	9.8
36	encephalopathy	9.8
37	hypertonia	9.8
38	hemoglobin e-beta-thalassemia syndrome	9.8	LOC107133510 LOC106099062 HBB
39	sickle cell disease and related diseases	9.8	LOC107133510 LOC106099062 HBB
40	congenital hemolytic anemia	9.8	HBB HBA2
41	splenic infarction	9.8	LOC107133510 LOC106099062 HBB
42	hemoglobin c disease	9.8	LOC107133510 LOC106099062 HBB
43	microcytic anemia	9.8	HBA2 HBA1
44	hemoglobin e disease	9.8	LOC107133510 LOC106099062 HBB
45	alpha-thalassemia/mental retardation syndrome, chromosome 16-related	9.8	HBA2 HBA1
46	immune hydrops fetalis	9.8	HBA2 HBA1
47	alpha thalassemia-intellectual disability syndrome type 1	9.8	HBA2 HBA1
48	hemoglobin d disease	9.7	LOC110006319 LOC107133510 HBB
49	erythrocytosis, familial, 7	9.7	HBA2 HBA1
50	hypoglycemic coma	9.7	HBA2 HBA1

Graphical network of the top 20 diseases related to Methemoglobinemia, Beta-Globin Type:

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Symptoms & Phenotypes for Methemoglobinemia, Beta-Globin Type

GenomeRNAi Phenotypes related to Methemoglobinemia, Beta-Globin Type according to GeneCards Suite gene sharing:

²⁶

#	Description	GenomeRNAi Source Accession	Score	Top Affiliating Genes
1	Increased shRNA abundance (Z-score > 2)	GR00366-A-113	9.53	HBA1 HBA2
2	Increased shRNA abundance (Z-score > 2)	GR00366-A-140	9.53	HBA1 HBA2
3	Increased shRNA abundance (Z-score > 2)	GR00366-A-181	9.53	HBA1 HBA2
4	Increased shRNA abundance (Z-score > 2)	GR00366-A-48	9.53	HBA1 HBA2

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Drugs & Therapeutics for Methemoglobinemia, Beta-Globin Type

Search Clinical Trials , NIH Clinical Center for Methemoglobinemia, Beta-Globin Type

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Genetic Tests for Methemoglobinemia, Beta-Globin Type

Genetic tests related to Methemoglobinemia, Beta-Globin Type:

#	Genetic test	Affiliating Genes
1	Methemoglobinemia, Beta-Globin Type ²⁹	HBB

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Anatomical Context for Methemoglobinemia, Beta-Globin Type

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Publications for Methemoglobinemia, Beta-Globin Type

Articles related to Methemoglobinemia, Beta-Globin Type:

(show all 27)

#	Title	Authors	PMID	Year
1	DNA sequence analysis proves Hb M-Milwaukee-2 is due to beta-globin gene codon 92 (CAC-->TAC), the presumed mutation of Hb M-Hyde Park and Hb M-Akita. ⁶	Hutt PJ...Green MM	9494043	1998
2	Hb Tübingen [alpha 2 beta (2)106(G8)Leu-->Gln] in a Belgian Family. ⁶	Philippe M...Lambert M	8226097	1993
3	Hb-M "Hyde Park": a de novo mutation, identified by mass spectrometry and DNA analysis. ⁶	Rotoli B...De Angioletti M	1398295	1992
4	Haemoglobin M-Hyde Park associated with polyagglutinable red blood cells in a South African family. ⁶	Bird AR...Elliott T	3377987	1988
5	Hb M Milwaukee: direct detection of the beta-globin gene mutation in three generations of an afflicted family. ⁶	Oehme R...Horst J	6311728	1983
6	DNA restriction mapping identifies the chromosome carrying the mutant Hb Presbyterian beta-globin gene. ⁶	Horst J...Kohne E	6309649	1983
7	Hb M Milwaukee in a German family. ⁶	Kohne E...Kleihauer E	604314	1977
8	Structural and functional characteristics of Hb Tübingen: beta 106 (G 8) Leu leads to Gln. ⁶	Kohne E...Braunitzer G	1278400	1976
9	Haemoglobin M Hyde Park occurring as a fresh mutation: diagnostic, structural, and genetic considerations. ⁶	Stamatoyannopoulos G...Chard R	933112	1976
10	Haemoglobin Hiroshima and the mechanism of the alkaline Bohr effect. ⁶	Perutz MF...Hamilton HB	5285571	1971
11	Properties of hemoglobin M, Milwaukee-I variant and its unique characteristic. ⁶	Hayashi A...Watari H	4311041	1969
12	Amino acid substitution in hemoglobin Makita. ⁶	Shibata S...Yamamoto K	5669922	1968
13	Mild homozygous beta-thalassemia. Further evidence for the heterogeneity of beta-thalassemia genes. ⁶	Heller P...Rucknagel DL	5900783	1966
14	Chemical studies of several varieties of Hb M. ⁶	GERALD PS...EFRON ML	13897827	1961
15	Clinical and laboratory features of two variants of methemoglobin M disease. ⁶	PISCIOTTA AV...HINZ JE	13665153	1959
16	Diagnosis of Hemoglobin M Disease in a Toddler Presenting With Hypoxemia and Hemolysis. ⁶¹	Picca A...Kanter J	31431070	2019
17	Congenital Methemoglobinemia Identified by Pulse Oximetry Screening. ⁶¹	Ward J...Toldi G	30733239	2019
18	Hemoglobin M Disease as a Cause of Cyanosis in a Newborn. ⁶¹	Alonso-Ojembarrena A...Lubian-Lopez SP	26694193	2016
19	[Hemoglobin M disease]. ⁶¹	Nagai M	8270817	1993
20	De novo mutations producing unstable Hbs or Hbs M. II. Direct estimates of minimum nucleotide mutation rates in man. ⁶¹	Stamatoyannopoulos G...Nute PE	7076259	1982
21	Benzocaine-induced methemoglobinemia. ⁶¹	Townes PL...White MR	868824	1977
22	Hemoglobin-M disease. ⁶¹	Bajaj RT...Sukumaran PK	4746251	1973
23	Symposium: Hemoglobinopathies in Japan. 4. Molecular basis of the clinical signs in hemoglobin M disease. ⁶¹	Hayashi A	5753627	1968
24	Hemoglobin M disease in Japan. ⁶¹	Shibata S...Miyaji T	5856115	1965
25	[HEMOGLOBIN M DISEASE IN JAPAN]. ⁶¹	SHIBATA S...MIYAJI T	14280635	1965
26	A new variant of hemoglobin M disease: hemoglobin M-Chicago. ⁶¹	JOSEPHSON AM...HELLER P	14452533	1962
27	[Hemoglobin M disease]. ⁶¹	SHECHTER-MANI A...RAMOT B	13911545	1962

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Genes for Methemoglobinemia, Beta-Globin Type

Genes related to Methemoglobinemia, Beta-Globin Type (6 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubMed IDs
1	HBB	Hemoglobin Subunit Beta	Protein Coding	883.89	Pathogenic ⁶ Causative germline mutation ⁵⁸ Genetic Tests ²⁹ Likely pathogenic ⁶ GeneCards inferred via : Variants (show sections)	1278400 8226097 8416301
2	LOC107133510	Origin Of Replication At HBB	Biological Region	433.89	Pathogenic ⁶ Likely pathogenic ⁶ GeneCards inferred via : Variants (show sections)	1278400 8226097
3	LOC106099062	HBB Recombination Region	Biological Region	433.81	Pathogenic ⁶ Likely pathogenic ⁶ GeneCards inferred via : Variants (show sections)	13897827 4311041 5285571 (more) 6309649 13665153 604314 6311728
4	LOC110006319	Beta-Globin Gene 3' Regulatory Region	Biological Region	408.12	Pathogenic ⁶ GeneCards inferred via : Variants (show sections)	1278400 8226097
5	HBA1	Hemoglobin Subunit Alpha 1	Protein Coding	350	Causative germline mutation ⁵⁸	8416301 3026948
6	HBA2	Hemoglobin Subunit Alpha 2	Protein Coding	350	Causative germline mutation ⁵⁸	8416301 25031065

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Variations for Methemoglobinemia, Beta-Globin Type

ClinVar genetic disease variations for Methemoglobinemia, Beta-Globin Type:

⁶ (show all 27)

#	Gene	Name	Type	Significance	ClinVarId	dbSNP ID	Position
1	LOC106804613 , HBA1	NM_000558.5(HBA1):c.175C>T (p.His59Tyr)	SNV	other	15778	rs35213748	GRCh37: 16:227007-227007 GRCh38: 16:177008-177008
2	LOC106804613 , HBA1	NM_000558.5(HBA1):c.175C>T (p.His59Tyr)	SNV	other	15778	rs35213748	GRCh37: 16:227007-227007 GRCh38: 16:177008-177008
3	LOC106804613 , HBA1	NM_000558.5(HBA1):c.175C>T (p.His59Tyr)	SNV	other	15778	rs35213748	GRCh37: 16:227007-227007 GRCh38: 16:177008-177008
4	LOC106804613 , HBA1	NM_000558.5(HBA1):c.175C>T (p.His59Tyr)	SNV	other	15778	rs35213748	GRCh37: 16:227007-227007 GRCh38: 16:177008-177008
5	LOC106804613 , HBA1	NM_000558.5(HBA1):c.262C>T (p.His88Tyr)	SNV	other	15779	rs28928876	GRCh37: 16:227094-227094 GRCh38: 16:177095-177095
6	LOC106804613 , HBA1	NM_000558.5(HBA1):c.262C>T (p.His88Tyr)	SNV	other	15779	rs28928876	GRCh37: 16:227094-227094 GRCh38: 16:177095-177095
7	LOC106804613 , HBA1	NM_000558.5(HBA1):c.262C>T (p.His88Tyr)	SNV	other	15779	rs28928876	GRCh37: 16:227094-227094 GRCh38: 16:177095-177095
8	LOC106804613 , HBA1	NM_000558.5(HBA1):c.262C>T (p.His88Tyr)	SNV	other	15779	rs28928876	GRCh37: 16:227094-227094 GRCh38: 16:177095-177095
9	LOC106099062 , HBB , LOC107133510	NM_000518.4(HBB):c.203T>A (p.Val68Glu)	SNV	other	15254	rs33918343	GRCh37: 11:5247919-5247919 GRCh38: 11:5226689-5226689
10	LOC106099062 , HBB , LOC107133510	NM_000518.4(HBB):c.277C>T (p.His93Tyr)	SNV	other	15255	rs33924775	GRCh37: 11:5247845-5247845 GRCh38: 11:5226615-5226615
11	LOC106099062 , HBB , LOC107133510	NM_000518.4(HBB):c.277C>T (p.His93Tyr)	SNV	other	15255	rs33924775	GRCh37: 11:5247845-5247845 GRCh38: 11:5226615-5226615
12	LOC106099062 , HBB , LOC107133510	NM_000518.4(HBB):c.277C>T (p.His93Tyr)	SNV	other	15255	rs33924775	GRCh37: 11:5247845-5247845 GRCh38: 11:5226615-5226615
13	LOC106099062 , HBB , LOC107133510	NM_000518.5(HBB):c.190C>T (p.His64Tyr)	SNV	other	15256	rs33922873	GRCh37: 11:5247932-5247932 GRCh38: 11:5226702-5226702
14	LOC110006319 , HBB , LOC107133510	NM_000518.4(HBB):c.320T>A (p.Leu107Gln)	SNV	Pathogenic	15378	rs33941844	GRCh37: 11:5246952-5246952 GRCh38: 11:5225722-5225722
15	LOC106099062 , HBB , LOC107133510	NM_000518.4(HBB):c.203T>A (p.Val68Glu)	SNV	Pathogenic	15254	rs33918343	GRCh37: 11:5247919-5247919 GRCh38: 11:5226689-5226689
16	LOC106099062 , HBB , LOC107133510	NM_000518.4(HBB):c.277C>T (p.His93Tyr)	SNV	Pathogenic	15255	rs33924775	GRCh37: 11:5247845-5247845 GRCh38: 11:5226615-5226615
17	LOC110006319 , HBB , LOC107133510	NM_000518.5(HBB):c.316-106C>G	SNV	Pathogenic	15457	rs34690599	GRCh37: 11:5247062-5247062 GRCh38: 11:5225832-5225832
18	LOC106099062 , LOC110006319 , HBB , LOC107133510	NM_000518.5(HBB):c.315+1G>A	SNV	Pathogenic	15438	rs33945777	GRCh37: 11:5247806-5247806 GRCh38: 11:5226576-5226576
19	LOC106099062 , HBB , LOC107133510	NM_000518.5(HBB):c.118C>T (p.Gln40Ter)	SNV	Pathogenic	15402	rs11549407	GRCh37: 11:5248004-5248004 GRCh38: 11:5226774-5226774
20	LOC106099062 , HBB , LOC107133510	NM_000518.5(HBB):c.93-21G>A	SNV	Pathogenic	15454	rs35004220	GRCh37: 11:5248050-5248050 GRCh38: 11:5226820-5226820
21	LOC106099062 , HBB , LOC107133510	NM_000518.5(HBB):c.92+6T>C	SNV	Pathogenic	15450	rs35724775	GRCh37: 11:5248154-5248154 GRCh38: 11:5226924-5226924
22	LOC106099062 , HBB , LOC107133510	NM_000518.5(HBB):c.92+5G>C	SNV	Pathogenic	15447	rs33915217	GRCh37: 11:5248155-5248155 GRCh38: 11:5226925-5226925
23	LOC106099062 , HBB , LOC107133510	NM_000518.5(HBB):c.92+1G>A	SNV	Pathogenic	15436	rs33971440	GRCh37: 11:5248159-5248159 GRCh38: 11:5226929-5226929
24	LOC106099062 , HBB , LOC107133510	NM_000518.5(HBB):c.52A>T (p.Lys18Ter)	SNV	Pathogenic	15401	rs33986703	GRCh37: 11:5248200-5248200 GRCh38: 11:5226970-5226970
25	HBB , LOC106099062 , LOC107133510	NM_000518.5(HBB):c.-79A>G	SNV	Pathogenic	15469	rs34598529	GRCh37: 11:5248330-5248330 GRCh38: 11:5227100-5227100
26	HBB , LOC106099062 , LOC107133510	NM_000518.5(HBB):c.-137C>A	SNV	Pathogenic	36285	rs33941377	GRCh37: 11:5248388-5248388 GRCh38: 11:5227158-5227158
27	HBB , LOC106099062 , LOC107133510	NM_000518.5(HBB):c.-138C>A	SNV	Likely pathogenic	393701	rs33944208	GRCh37: 11:5248389-5248389 GRCh38: 11:5227159-5227159

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Expression for Methemoglobinemia, Beta-Globin Type

Search GEO for disease gene expression data for Methemoglobinemia, Beta-Globin Type.

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Pathways for Methemoglobinemia, Beta-Globin Type

Pathways related to Methemoglobinemia, Beta-Globin Type according to GeneCards Suite gene sharing:

#	Super pathways	Score	Top Affiliating Genes
1	Binding and Uptake of Ligands by Scavenger Receptors ⁶⁵ Show member pathways Scavenging by Class A Receptors ⁶⁵ Scavenging by Class B Receptors ⁶⁵ Scavenging by Class F Receptors ⁶⁵ Scavenging by Class H Receptors ⁶⁵ Scavenging of heme from plasma ⁶⁵	11.45	HBB HBA2 HBA1
2	Malaria ³⁶	11.03	HBB HBA2 HBA1
3	African trypanosomiasis ³⁶	10.7	HBB HBA2 HBA1
4	O2/CO2 exchange in erythrocytes ⁶⁵ Show member pathways Erythrocytes take up carbon dioxide and release oxygen ⁶⁵ Erythrocytes take up oxygen and release carbon dioxide ⁶⁵	10.34	HBB HBA2 HBA1

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GO Terms for Methemoglobinemia, Beta-Globin Type

Cellular components related to Methemoglobinemia, Beta-Globin Type according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	blood microparticle	GO:0072562	9.43	HBB HBA2 HBA1
2	endocytic vesicle lumen	GO:0071682	9.33	HBB HBA2 HBA1
3	cytosolic small ribosomal subunit	GO:0022627	9.32	HBA2 HBA1
4	hemoglobin complex	GO:0005833	9.13	HBB HBA2 HBA1
5	haptoglobin-hemoglobin complex	GO:0031838	8.8	HBB HBA2 HBA1

Biological processes related to Methemoglobinemia, Beta-Globin Type according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	receptor-mediated endocytosis	GO:0006898	9.58	HBB HBA2 HBA1
2	cellular oxidant detoxification	GO:0098869	9.54	HBB HBA2 HBA1
3	response to hydrogen peroxide	GO:0042542	9.5	HBB HBA2 HBA1
4	positive regulation of cell death	GO:0010942	9.43	HBB HBA2 HBA1
5	bicarbonate transport	GO:0015701	9.33	HBB HBA2 HBA1
6	hydrogen peroxide catabolic process	GO:0042744	9.13	HBB HBA2 HBA1
7	oxygen transport	GO:0015671	8.8	HBB HBA2 HBA1

Molecular functions related to Methemoglobinemia, Beta-Globin Type according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	heme binding	GO:0020037	9.54	HBB HBA2 HBA1
2	peroxidase activity	GO:0004601	9.5	HBB HBA2 HBA1
3	oxygen binding	GO:0019825	9.43	HBB HBA2 HBA1
4	iron ion binding	GO:0005506	9.4	HBA2 HBA1
5	oxygen carrier activity	GO:0005344	9.33	HBB HBA2 HBA1
6	organic acid binding	GO:0043177	9.13	HBB HBA2 HBA1
7	haptoglobin binding	GO:0031720	8.8	HBB HBA2 HBA1

Sources

Sources for Methemoglobinemia, Beta-Globin Type

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 FMA

²⁰ GARD

²¹ GeneAnalytics

²² GeneCards

²³ GeneGo (Thomson Reuters)

²⁴ GeneHancer via GeneCards

²⁵ GeneReviews

²⁶ GenomeRNAi

²⁷ GEO DataSets

²⁸ GO

²⁹ GTR

³⁰ HMDB

³¹ HPO

³² ICD10

³³ ICD10 via Orphanet

³⁴ ICD9CM

³⁵ IUPHAR

³⁶ KEGG

³⁷ LifeMap

³⁸ LncRNADisease

³⁹ LOVD

⁴⁰ MalaCards

⁴¹ MedGen

⁴² MedlinePlus

⁴³ MedlinePlus Genetics

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 NINDS

⁵⁴ Novoseek

⁵⁵ Novus Biologicals

⁵⁶ OMIM via Orphanet

⁵⁷ OMIM® (Updated 05-Apr-2021)

⁵⁸ Orphanet

⁵⁹ PathCards

⁶⁰ PharmGKB

⁶¹ PubMed

⁶² PubMed Health

⁶³ QIAGEN

⁶⁴ R&D Systems

⁶⁵ Reactome

⁶⁶ Sino Biological

⁶⁷ SNOMED-CT

⁶⁸ SNOMED-CT via HPO

⁶⁹ Tocris

⁷⁰ UMLS

⁷¹ UMLS via Orphanet

⁷² UniProtKB/Swiss-Prot

⁷³ Wikipedia