Deafness, X-Linked 2 disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

MCID: DFN036 MIFTS: 35	Deafness, X-Linked 2 Categories: Genetic diseases, Rare diseases, Ear diseases, Neuronal diseases, Mental diseases
Genes Variations Tissues Related diseases Publications Pathways Symptoms & Phenotypes Download Expand all tables

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Aliases & Classifications for Deafness, X-Linked 2

MalaCards integrated aliases for Deafness, X-Linked 2:

Name: Deafness, X-Linked 2 ⁵⁷ ⁵³ ²⁹ ¹³ ⁶

Nance Deafness ⁵⁷ ⁵³ ⁵⁹ ⁷⁵

Dfnx2 ⁵⁷ ⁵³ ⁵⁹ ⁷⁵

Perilymphatic Gusher-Deafness Syndrome ⁵⁷ ⁵³ ⁷⁵

Dfn3 ⁵⁷ ⁵³ ⁷⁵

Sensorineural Deafness, Profound, with or Without a Conductive Component, Associated with a Unique Developmental Abnormality of the Ear ⁵⁷ ⁵³

X-Linked Mixed Conductive and Sensorineural Deafness ⁵⁹ ⁷⁵

X-Linked Mixed Conductive and Neurosensory Deafness ⁵⁹ ⁷⁵

Deafness 3 Conductive with Stapes Fixation ⁵³ ⁷⁵

Deafness Conductive with Stapes Fixation ⁵³ ⁷⁵

Deafness Mixed with Perilymphatic Gusher ⁵³ ⁷⁵

Deafness X-Linked 2 with Non-Syndromic Mental Retardation ⁷⁵

X-Linked Mixed Conductive and Sensorineural Hearing Loss ⁵⁹

X-Linked Mixed Conductive and Neurosensory Hearing Loss ⁵⁹

Deafness 3, Conductive, with Stapes Fixation; Dfn3 ⁵⁷

X-Linked Mixed Deafness with Perilymphatic Gusher ⁵⁹

Deafness Mixed with Perilymph Gusher X-Linked ⁷⁵

Deafness 3, Conductive, with Stapes Fixation ⁵⁷

Dfn 3 Nonsyndromic Hearing Loss and Deafness ⁵³

Deafness, Conductive, with Stapes Fixation ⁵⁷

Deafness, Mixed, with Perilymphatic Gusher ⁵⁷

Conductive Deafness with Stapes Fixation ⁵⁹

Progressive Hearing Loss Stapes Fixation ⁷³

X-Linked Stapes Gusher Syndrome ⁵⁹

Deafness, X-Linked, Type 2 ⁴⁰

X-Linked Deafness Type 2 ⁵⁹

Deafness, X-Linked, 2 ⁷⁵

Gusher Syndrome ⁵³

Characteristics:

Orphanet epidemiological data:

⁵⁹

x-linked mixed deafness with perilymphatic gusher
Inheritance: X-linked recessive; Age of onset: Infancy; Age of death: normal life expectancy;

OMIM:

⁵⁷

Inheritance:
x-linked recessive

Miscellaneous:
leakage of fluid ('gusher') if the stapes is disturbed
female carriers may have mild hearing impairment

HPO:

³²

deafness, x-linked 2:
Inheritance x-linked recessive inheritance

Classifications:

MalaCards categories:
Global: Genetic diseases Rare diseases
Anatomical: Ear diseases Neuronal diseases Mental diseases

See all MalaCards categories (disease lists)

ICD10: ³⁴

Diseases of the ear and mastoid process

Other disorders of ear

Conductive and sensorineural hearing loss

Mixed conductive and sensorineural hearing loss, unspecified

Orphanet: ⁵⁹

Rare otorhinolaryngological diseases

External Ids:

OMIM ⁵⁷ 304400

Orphanet ⁵⁹ ORPHA383

ICD10 via Orphanet ³⁴ H90.8

UMLS via Orphanet ⁷⁴ C1844678

MedGen ⁴² C1844678 C2677850

MeSH ⁴⁴ D046089

SNOMED-CT via HPO ⁶⁹ 44057004

UMLS ⁷³ C1844678

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Summaries for Deafness, X-Linked 2

NIH Rare Diseases : ⁵³ The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 383Disease definitionX-linked mixed deafness with perilymphatic gusher, also known as X-linked deafness type 2, is a rare form of non-syndromic genetic deafnesss affecting males and characterized by pathognomonic inner ear anomalies and conductive and profound sensorineural hearing loss. The inner ear anomalies are described as dilatation of the internal auditory meatus and fistulous connection between the cochlear basal turn and internal auditory canal resulting in perilympatic gusher on attempted mobilization of a fixed stapes. Obligate female carriers may suffer from mild to moderate hearing loss.Visit the Orphanet disease page for more resources.

MalaCards based summary : Deafness, X-Linked 2, also known as nance deafness, is related to deafness mixed with perilymphatic gusher, x-linked and deafness x-linked, dfn3. An important gene associated with Deafness, X-Linked 2 is POU3F4 (POU Class 3 Homeobox 4), and among its related pathways/superpathways is Gap junction trafficking. Affiliated tissues include bone, and related phenotypes are conductive hearing impairment and progressive sensorineural hearing impairment

OMIM : ⁵⁷ DFNX2, also known as DFN3, is an X-linked recessive disorder characterized by progressive conductive and sensorineural hearing loss and a pathognomonic temporal bone deformity that includes dilatation of the inner auditory canal and a fistulous connection between the internal auditory canal and the cochlear basal turn, resulting in a perilymphatic fluid 'gusher' during stapes surgery (summary by de Kok et al., 1995 and Song et al., 2010). See also choroideremia, deafness, and mental retardation (303110), a contiguous gene deletion syndrome involving the POU3F4 and CHM (300390) genes on Xq21; isolated choroideremia (303100) is caused by mutation in the CHM gene. (304400)

UniProtKB/Swiss-Prot : ⁷⁵ Deafness, X-linked, 2: A form of deafness characterized by both conductive hearing loss resulting from stapes (perilymphatic gusher) fixation, and progressive sensorineural deafness.

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Related Diseases for Deafness, X-Linked 2

Diseases in the X-Linked Nonsyndromic Deafness family:

Deafness, X-Linked 3	Deafness, X-Linked 4
Deafness, X-Linked 5	Deafness, X-Linked 6
Deafness, X-Linked 2	Deafness, X-Linked 1
Deafness, Y-Linked 1

Diseases related to Deafness, X-Linked 2 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 38)

#	Related Disease	Score	Top Affiliating Genes
1	deafness mixed with perilymphatic gusher, x-linked	12.4
2	deafness x-linked, dfn3	11.9
3	deafness, x-linked 1	11.4
4	deafness-hypogonadism syndrome	11.1
5	choroideremia	10.9
6	deafness, autosomal dominant 24	10.2	GJB2 GJB6
7	kid syndrome	10.2	GJB2 GJB6
8	pseudoainhum	10.2	GJB2 GJB6
9	congenital cytomegalovirus	10.1	GJB2 GJB6
10	knuckle pads, leukonychia, and sensorineural deafness	10.1	GJB2 GJB6
11	deafness, autosomal recessive 49	10.1	GJB2 POU3F4
12	hodgkin's lymphoma, nodular sclerosis	10.1	GJB2 GJB6
13	dfnb1	10.1	GJB2 GJB6
14	vohwinkel syndrome	10.1	GJB2 GJB6
15	deafness, autosomal recessive 1a	10.1	GJB2 GJB6
16	deafness, autosomal recessive 23	10.1	GJB2 GJB6
17	knuckle pads	10.1	GJB2 GJB6
18	non-syndromic genetic deafness	10.0	GJB2 POU3F4
19	vestibular disease	10.0	GJB2 GJB6
20	deafness, autosomal dominant 2a	10.0	GJB2 GJB6
21	deafness, autosomal recessive 16	10.0	GJB2 GJB6
22	erythrokeratodermia variabilis et progressiva 1	10.0	GJB2 GJB6
23	ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus	10.0
24	autosomal dominant non-syndromic sensorineural deafness type dfna	9.9	GJB2 GJB6
25	clouston syndrome	9.9	GJB2 GJB6
26	hereditary hearing loss and deafness	9.9	POU3F4 PRPS1
27	inner ear disease	9.9	GJB2 GJB6
28	charcot-marie-tooth disease, x-linked recessive, 5	9.9	POU3F4 PRPS1
29	keratitis, hereditary	9.8	GJB2 GJB6
30	x-linked nonsyndromic deafness	9.8	POU3F4 PRPS1
31	x-linked charcot-marie-tooth disease	9.8	GJB2 PRPS1
32	deafness, autosomal recessive 4, with enlarged vestibular aqueduct	9.8	GJB2 GJB6
33	corneal disease	9.7	GJB2 GJB6
34	auditory system disease	9.6	GJB2 GJB6 POU3F4
35	sensorineural hearing loss	9.6	GJB2 GJB6 POU3F4
36	autosomal recessive non-syndromic sensorineural deafness type dfnb	9.6	GJB2 GJB6
37	nonsyndromic deafness	9.6	GJB2 GJB6 POU3F4
38	skin disease	9.3	GJB2 GJB6

Graphical network of the top 20 diseases related to Deafness, X-Linked 2:

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Symptoms & Phenotypes for Deafness, X-Linked 2

Symptoms via clinical synopsis from OMIM:

⁵⁷

Head And Neck Ears:
deafness, profound
hearing loss, conductive
hearing loss, sensorineural, progressive
wide bulbous internal auditory meatus
deficient or absent bone between the lateral end of the meatus and basal turn of the cochlea
more

Clinical features from OMIM:

304400

Human phenotypes related to Deafness, X-Linked 2:

³²

#	Description	HPO Source Accession
1	conductive hearing impairment ³²	HP:0000405
2	progressive sensorineural hearing impairment ³²	HP:0000408
3	stapes ankylosis ³²	HP:0000381
4	dilatated internal auditory canal ³²	HP:0004458

MGI Mouse Phenotypes related to Deafness, X-Linked 2:

⁴⁶

#	Description	MGI Source Accession	Score	Top Affiliating Genes
1	hearing/vestibular/ear	MP:0005377	8.8	GJB2 GJB6 POU3F4

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Drugs & Therapeutics for Deafness, X-Linked 2

Search Clinical Trials , NIH Clinical Center for Deafness, X-Linked 2

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Genetic Tests for Deafness, X-Linked 2

Genetic tests related to Deafness, X-Linked 2:

#	Genetic test	Affiliating Genes
1	Deafness, X-Linked 2 ²⁹	GJB2 GJB6 POU3F4

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Anatomical Context for Deafness, X-Linked 2

MalaCards organs/tissues related to Deafness, X-Linked 2:

⁴¹

Bone

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Publications for Deafness, X-Linked 2

Articles related to Deafness, X-Linked 2:

#	Title	Authors	Year
1	Molecular analysis of the POU3F4 gene in patients with clinical and radiographic evidence of X-linked mixed deafness with perilymphatic gusher. ( 9109724 )	Friedman R.A....Fischel-Ghodsian N.	1997

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Genes for Deafness, X-Linked 2

Genes related to Deafness, X-Linked 2 (3 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	POU3F4	POU Class 3 Homeobox 4	Protein Coding	1678.93	Molecular basis known ⁵⁷ Pathogenic ⁶ Causative germline mutation ⁵⁹ Causative variation ⁷⁵ Genetic Tests ²⁹ GeneCards inferred via : Disorders Variants (show sections)	7839145 20301449 20301607 (more) 24651602 1783396 7581392 9298820 23076972
2	GJB2	Gap Junction Protein Beta 2	Protein Coding	543.77	Pathogenic ⁶ Genetic Tests ²⁹ Pathogenic/Likely pathogenic ⁶ GeneCards inferred via : Variants (show sections)
3	GJB6	Gap Junction Protein Beta 6	Protein Coding	100	Genetic Tests ²⁹
4	PRPS1	Phosphoribosyl Pyrophosphate Synthetase 1	Protein Coding	17.52	GeneCards inferred via : Gene name (show sections)
5	LOC107985635	Uncharacterized LOC107985635	RNA Gene	7.67	GeneCards inferred via : Variants (show sections)

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Variations for Deafness, X-Linked 2

UniProtKB/Swiss-Prot genetic disease variations for Deafness, X-Linked 2:

⁷⁵

#	Symbol	AA change	Variation ID
1	POU3F4	p.Ala312Val	VAR_003782
2	POU3F4	p.Leu317Trp	VAR_003783
3	POU3F4	p.Arg323Gly	VAR_003784
4	POU3F4	p.Arg330Ser	VAR_003785
5	POU3F4	p.Lys334Glu	VAR_003786

ClinVar genetic disease variations for Deafness, X-Linked 2:

⁶

(show all 44)

#	Gene	Variation	Type	Significance	SNP ID	Assembly	Location
1	POU3F4	NM_000307.4(POU3F4): c.648delG (p.Leu217Trpfs)	deletion	Pathogenic		GRCh38	Chromosome X, 83508972: 83508972
2	POU3F4	NM_000307.4(POU3F4): c.648delG (p.Leu217Trpfs)	deletion	Pathogenic		GRCh37	Chromosome X, 82763980: 82763980
3	POU3F4	NM_000307.4(POU3F4): c.604A> T (p.Lys202Ter)	single nucleotide variant	Pathogenic	rs104894920	GRCh37	Chromosome X, 82763936: 82763936
4	POU3F4	NM_000307.4(POU3F4): c.604A> T (p.Lys202Ter)	single nucleotide variant	Pathogenic	rs104894920	GRCh38	Chromosome X, 83508928: 83508928
5	POU3F4	NM_000307.4(POU3F4): c.950T> G (p.Leu317Trp)	single nucleotide variant	Pathogenic	rs104894921	GRCh37	Chromosome X, 82764282: 82764282
6	POU3F4	NM_000307.4(POU3F4): c.950T> G (p.Leu317Trp)	single nucleotide variant	Pathogenic	rs104894921	GRCh38	Chromosome X, 83509274: 83509274
7	POU3F4	NM_000307.4(POU3F4): c.1000A> G (p.Lys334Glu)	single nucleotide variant	Pathogenic	rs104894922	GRCh37	Chromosome X, 82764332: 82764332
8	POU3F4	NM_000307.4(POU3F4): c.1000A> G (p.Lys334Glu)	single nucleotide variant	Pathogenic	rs104894922	GRCh38	Chromosome X, 83509324: 83509324
9	POU3F4	NM_000307.4(POU3F4): c.862_865delAGTG (p.Val289Argfs)	deletion	Pathogenic	rs730882189	GRCh37	Chromosome X, 82764194: 82764197
10	POU3F4	NM_000307.4(POU3F4): c.862_865delAGTG (p.Val289Argfs)	deletion	Pathogenic	rs730882189	GRCh38	Chromosome X, 83509186: 83509189
11	POU3F4	NM_000307.4(POU3F4): c.935C> T (p.Ala312Val)	single nucleotide variant	Pathogenic	rs387906502	GRCh37	Chromosome X, 82764267: 82764267
12	POU3F4	NM_000307.4(POU3F4): c.935C> T (p.Ala312Val)	single nucleotide variant	Pathogenic	rs387906502	GRCh38	Chromosome X, 83509259: 83509259
13	POU3F4	NM_000307.4(POU3F4): c.990A> T (p.Arg330Ser)	single nucleotide variant	Pathogenic	rs104894923	GRCh37	Chromosome X, 82764322: 82764322
14	POU3F4	NM_000307.4(POU3F4): c.990A> T (p.Arg330Ser)	single nucleotide variant	Pathogenic	rs104894923	GRCh38	Chromosome X, 83509314: 83509314
15	POU3F4	NM_000307.4(POU3F4): c.967C> G (p.Arg323Gly)	single nucleotide variant	Pathogenic	rs104894924	GRCh37	Chromosome X, 82764299: 82764299
16	POU3F4	NM_000307.4(POU3F4): c.967C> G (p.Arg323Gly)	single nucleotide variant	Pathogenic	rs104894924	GRCh38	Chromosome X, 83509291: 83509291
17	GJB2	NM_004004.5(GJB2): c.71G> A (p.Trp24Ter)	single nucleotide variant	Pathogenic	rs104894396	GRCh37	Chromosome 13, 20763650: 20763650
18	GJB2	NM_004004.5(GJB2): c.71G> A (p.Trp24Ter)	single nucleotide variant	Pathogenic	rs104894396	GRCh38	Chromosome 13, 20189511: 20189511
19	GJB2	NM_004004.5(GJB2): c.139G> T (p.Glu47Ter)	single nucleotide variant	Pathogenic	rs104894398	GRCh37	Chromosome 13, 20763582: 20763582
20	GJB2	NM_004004.5(GJB2): c.139G> T (p.Glu47Ter)	single nucleotide variant	Pathogenic	rs104894398	GRCh38	Chromosome 13, 20189443: 20189443
21	GJB2	NM_004004.5(GJB2): c.427C> T (p.Arg143Trp)	single nucleotide variant	Pathogenic	rs80338948	GRCh37	Chromosome 13, 20763294: 20763294
22	GJB2	NM_004004.5(GJB2): c.427C> T (p.Arg143Trp)	single nucleotide variant	Pathogenic	rs80338948	GRCh38	Chromosome 13, 20189155: 20189155
23	GJB2	NM_004004.5(GJB2): c.269T> C (p.Leu90Pro)	single nucleotide variant	Pathogenic	rs80338945	GRCh37	Chromosome 13, 20763452: 20763452
24	GJB2	NM_004004.5(GJB2): c.269T> C (p.Leu90Pro)	single nucleotide variant	Pathogenic	rs80338945	GRCh38	Chromosome 13, 20189313: 20189313
25	POU3F4	NM_000307.4(POU3F4): c.950dupT (p.Leu317Phefs)	duplication	Pathogenic	rs398122516	GRCh37	Chromosome X, 82764282: 82764282
26	POU3F4	NM_000307.4(POU3F4): c.950dupT (p.Leu317Phefs)	duplication	Pathogenic	rs398122516	GRCh38	Chromosome X, 83509274: 83509274
27	POU3F4	NM_000307.4(POU3F4): c.1060delA (p.Thr354Glnfs)	deletion	Pathogenic	rs398122517	GRCh37	Chromosome X, 82764392: 82764392
28	POU3F4	NM_000307.4(POU3F4): c.1060delA (p.Thr354Glnfs)	deletion	Pathogenic	rs398122517	GRCh38	Chromosome X, 83509384: 83509384
29	GJB2	NM_004004.5(GJB2): c.283G> A (p.Val95Met)	single nucleotide variant	Pathogenic/Likely pathogenic	rs111033299	GRCh37	Chromosome 13, 20763438: 20763438
30	GJB2	NM_004004.5(GJB2): c.283G> A (p.Val95Met)	single nucleotide variant	Pathogenic/Likely pathogenic	rs111033299	GRCh38	Chromosome 13, 20189299: 20189299
31	GJB2	NM_004004.5(GJB2): c.416G> A (p.Ser139Asn)	single nucleotide variant	Pathogenic/Likely pathogenic	rs76434661	GRCh37	Chromosome 13, 20763305: 20763305
32	GJB2	NM_004004.5(GJB2): c.416G> A (p.Ser139Asn)	single nucleotide variant	Pathogenic/Likely pathogenic	rs76434661	GRCh38	Chromosome 13, 20189166: 20189166
33	GJB2	NM_004004.5(GJB2): c.617A> G (p.Asn206Ser)	single nucleotide variant	Pathogenic	rs111033294	GRCh37	Chromosome 13, 20763104: 20763104
34	GJB2	NM_004004.5(GJB2): c.617A> G (p.Asn206Ser)	single nucleotide variant	Pathogenic	rs111033294	GRCh38	Chromosome 13, 20188965: 20188965
35	POU3F4	NM_000307.4(POU3F4): c.896delA (p.Lys299Serfs)	deletion	Pathogenic	rs267606974	GRCh37	Chromosome X, 82764227: 82764227
36	POU3F4	NM_000307.4(POU3F4): c.896delA (p.Lys299Serfs)	deletion	Pathogenic	rs267606974	GRCh38	Chromosome X, 83509220: 83509220
37	GJB2	NM_004004.5(GJB2): c.131G> A (p.Trp44Ter)	single nucleotide variant	Pathogenic/Likely pathogenic	rs104894413	GRCh38	Chromosome 13, 20189451: 20189451
38	GJB2	NM_004004.5(GJB2): c.131G> A (p.Trp44Ter)	single nucleotide variant	Pathogenic/Likely pathogenic	rs104894413	GRCh37	Chromosome 13, 20763590: 20763590
39	POU3F4	NM_000307.4(POU3F4): c.235C> T (p.Gln79Ter)	single nucleotide variant	Pathogenic	rs878853242	GRCh38	Chromosome X, 83508559: 83508559
40	POU3F4	NM_000307.4(POU3F4): c.235C> T (p.Gln79Ter)	single nucleotide variant	Pathogenic	rs878853242	GRCh37	Chromosome X, 82763567: 82763567
41	POU3F4	NM_000307.4(POU3F4): c.845G> T (p.Arg282Leu)	single nucleotide variant	Uncertain significance	rs1060499806	GRCh38	Chromosome X, 83509169: 83509169
42	POU3F4	NM_000307.4(POU3F4): c.845G> T (p.Arg282Leu)	single nucleotide variant	Uncertain significance	rs1060499806	GRCh37	Chromosome X, 82764177: 82764177
43	POU3F4	NM_000307.4(POU3F4): c.877C> G (p.Leu293Val)	single nucleotide variant	Pathogenic	rs780027419	GRCh37	Chromosome X, 82764209: 82764209
44	POU3F4	NM_000307.4(POU3F4): c.877C> G (p.Leu293Val)	single nucleotide variant	Pathogenic	rs780027419	GRCh38	Chromosome X, 83509201: 83509201

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Expression for Deafness, X-Linked 2

Search GEO for disease gene expression data for Deafness, X-Linked 2.

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Pathways for Deafness, X-Linked 2

Pathways related to Deafness, X-Linked 2 according to GeneCards Suite gene sharing:

#	Super pathways	Score	Top Affiliating Genes
1	Gap junction trafficking ⁶⁶ Show member pathways Entry of Influenza Virion into Host Cell via Endocytosis ⁶⁶ Formation of annular gap junctions ⁶⁶ Gap junction assembly ⁶⁶ Gap junction degradation ⁶⁶ Gap junction trafficking and regulation ⁶⁶	10.61	GJB2 GJB6

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GO Terms for Deafness, X-Linked 2

Cellular components related to Deafness, X-Linked 2 according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	gap junction	GO:0005921	8.96	GJB2 GJB6
2	connexin complex	GO:0005922	8.62	GJB2 GJB6

Biological processes related to Deafness, X-Linked 2 according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	response to lipopolysaccharide	GO:0032496	9.32	GJB2 GJB6
2	aging	GO:0007568	9.26	GJB2 GJB6
3	cell communication	GO:0007154	9.16	GJB2 GJB6
4	sensory perception of sound	GO:0007605	9.13	GJB2 GJB6 POU3F4
5	inner ear development	GO:0048839	8.8	GJB2 GJB6 POU3F4

Sources

Sources for Deafness, X-Linked 2

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

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¹⁶ DrugBank

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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

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⁴⁸ NCBI Bookshelf

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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