NHS
MCID: NNC002
MIFTS: 48

Nance-Horan Syndrome (NHS)

Categories: Eye diseases, Fetal diseases, Genetic diseases, Neuronal diseases, Oral diseases, Rare diseases

Aliases & Classifications for Nance-Horan Syndrome

MalaCards integrated aliases for Nance-Horan Syndrome:

Name: Nance-Horan Syndrome 58 12 77 54 60 76 38 30 13 56 6 45 15 74
Cataract-Dental Syndrome 58 76
Nhs 58 76
Cataract, X-Linked, with Hutchinsonian Teeth 58
Cataract X-Linked with Hutchinsonian Teeth 54
Mesiodens-Cataract Syndrome 58
Mesiodens Cataract Syndrome 54
Cataract Dental Syndrome 54
Syndrome, Nance-Horan 41

Characteristics:

Orphanet epidemiological data:

60
nance-horan syndrome
Inheritance: X-linked dominant; Age of onset: Neonatal; Age of death: normal life expectancy;

OMIM:

58
Inheritance:
x-linked dominant


HPO:

33
nance-horan syndrome:
Inheritance x-linked dominant inheritance


Classifications:



Summaries for Nance-Horan Syndrome

NIH Rare Diseases : 54 Nance-Horan syndrome is a rare genetic disorder that may be evident at birth. It is characterized by teeth abnormalities and cataracts, resulting in poor vision. Additional eye abnormalities are also often present, including a very small cornea and nystagmus. In some cases, the condition may also be associated with physical abnormalities and/or intellectual disability. The range and severity of symptoms may vary greatly from one person to another, even among affected members of the same family. Nance-Horan syndrome is caused by a mutation in the NHS gene and is inherited as an X-linked dominant trait, which means that both males and females can be affected, but males often have more severe symptoms.The treatment is directed toward the specific symptoms that are apparent in the individual.

MalaCards based summary : Nance-Horan Syndrome, also known as cataract-dental syndrome, is related to hemochromatosis, neonatal and epidermolysis bullosa, junctional, non-herlitz type. An important gene associated with Nance-Horan Syndrome is NHS (NHS Actin Remodeling Regulator), and among its related pathways/superpathways are RhoGDI Pathway and Cytoskeleton remodeling_RalA regulation pathway. Affiliated tissues include testes, eye and prostate, and related phenotypes are nystagmus and mandibular prognathia

Disease Ontology : 12 A X-linked dominant disease that has material basis in mutation in the NHS gene on chromosome Xp22 and is characterized by congenital cataract leading to profound vision loss, characteristic dysmorphic features and dental anomalies.

OMIM : 58 Nance-Horan syndrome is an X-linked disorder characterized by congenital cataracts, dental anomalies, dysmorphic features, and, in some cases, mental retardation (summary by Burdon et al., 2003). (302350)

UniProtKB/Swiss-Prot : 76 Nance-Horan syndrome: Rare X-linked disorder characterized by congenital cataracts, dental anomalies, dysmorphic features, and, in some cases, mental retardation. Distinctive dental anomalies are seen in affected males, including supernumerary incisors and crown shaped permanent teeth. Characteristic facial features are anteverted pinnae, long face, and prominent nasal bridge and nose. Carrier females display milder variable symptoms of disease with lens opacities often involving the posterior Y sutures, and on occasion dental anomalies and the characteristic facial features described.

Wikipedia : 77 Nance–Horan syndrome is a rare X linked syndrome characterized by congenital cataract leading to... more...

Related Diseases for Nance-Horan Syndrome

Diseases related to Nance-Horan Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 224)
# Related Disease Score Top Affiliating Genes
1 hemochromatosis, neonatal 11.8
2 epidermolysis bullosa, junctional, non-herlitz type 11.6
3 epidermolysis bullosa dystrophica 11.2
4 serine deficiency 11.1
5 localized junctional epidermolysis bullosa, non-herlitz type 11.1
6 cataract 44 11.1
7 syndromic x-linked intellectual disability 11.1
8 early-onset nuclear cataract 11.1
9 cataract 10.9
10 melioidosis 10.8
11 cataract 40 10.6
12 disease of mental health 10.4
13 diaphragmatic hernia, congenital 10.4
14 microphthalmia 10.4
15 breast cancer 10.3
16 influenza 10.3
17 disorganization, mouse, homolog of 10.3
18 cystic fibrosis 10.2
19 nevus comedonicus 10.2
20 dermatitis 10.2
21 heparin-induced thrombocytopenia 10.2
22 retinoblastoma 10.2
23 dermatitis, atopic 10.1
24 primary orthostatic tremor 10.1
25 horns in sheep 10.1
26 hepatitis 10.1
27 learning disability 10.1
28 chronic fatigue syndrome 10.1
29 colorectal cancer 10.0
30 carney complex, type 1 10.0
31 prostate cancer 10.0
32 caronte 10.0
33 anxiety 10.0
34 diabetes mellitus 10.0
35 pemphigus foliaceus 10.0
36 dementia 10.0
37 prostate cancer, hereditary, 8 10.0
38 prostate cancer, hereditary, 6 10.0
39 cardiac arrest 10.0
40 hepatitis c 10.0
41 eating disorder 10.0
42 decubitus ulcer 10.0
43 aortic aneurysm, familial abdominal, 1 9.9
44 bornholm eye disease 9.9
45 late-onset retinal degeneration 9.9
46 pulmonary hypertension, primary, 3 9.9
47 keratoconus 9.9
48 voyeurism 9.9
49 impotence 9.9
50 aortic aneurysm 9.9

Graphical network of the top 20 diseases related to Nance-Horan Syndrome:



Diseases related to Nance-Horan Syndrome

Symptoms & Phenotypes for Nance-Horan Syndrome

Human phenotypes related to Nance-Horan Syndrome:

60 33 (show all 31)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 nystagmus 60 33 hallmark (90%) Very frequent (99-80%) HP:0000639
2 mandibular prognathia 60 33 hallmark (90%) Very frequent (99-80%) HP:0000303
3 cataract 60 33 hallmark (90%) Very frequent (99-80%) HP:0000518
4 prominent nasal bridge 60 33 hallmark (90%) Very frequent (99-80%) HP:0000426
5 visual loss 60 33 hallmark (90%) Very frequent (99-80%) HP:0000572
6 long face 60 33 hallmark (90%) Very frequent (99-80%) HP:0000276
7 microcornea 60 33 hallmark (90%) Very frequent (99-80%) HP:0000482
8 prominent nose 60 33 hallmark (90%) Very frequent (99-80%) HP:0000448
9 intellectual disability 60 33 frequent (33%) Frequent (79-30%) HP:0001249
10 strabismus 60 33 frequent (33%) Frequent (79-30%) HP:0000486
11 protruding ear 60 33 frequent (33%) Frequent (79-30%) HP:0000411
12 increased number of teeth 60 33 frequent (33%) Frequent (79-30%) HP:0011069
13 short metacarpal 60 33 frequent (33%) Frequent (79-30%) HP:0010049
14 behavioral abnormality 60 33 occasional (7.5%) Occasional (29-5%) HP:0000708
15 microphthalmia 60 33 occasional (7.5%) Occasional (29-5%) HP:0000568
16 glaucoma 60 33 occasional (7.5%) Occasional (29-5%) HP:0000501
17 retinal detachment 60 33 occasional (7.5%) Occasional (29-5%) HP:0000541
18 intellectual disability, moderate 33 very rare (1%) HP:0002342
19 screwdriver-shaped incisors 33 very rare (1%) HP:0006346
20 mulberry molar 33 very rare (1%) HP:0011092
21 macrotia 33 HP:0000400
22 abnormality of the dentition 60 Very frequent (99-80%)
23 visual impairment 60 Very frequent (99-80%)
24 autism 33 HP:0000717
25 narrow face 33 HP:0000275
26 broad finger 33 HP:0001500
27 short phalanx of finger 33 HP:0009803
28 diastema 33 HP:0000699
29 posterior y-sutural cataract 33 HP:0008031
30 developmental cataract 33 HP:0000519
31 supernumerary maxillary incisor 33 HP:0006332

Symptoms via clinical synopsis from OMIM:

58
Head And Neck Eyes:
nystagmus
microphthalmia
microcornea
bilateral congenital cataracts (males)
vision loss, profound (males)
more
Head And Neck Nose:
prominent nasal bridge
prominent nose

Skeletal Hands:
short fingers
broad fingers

Head And Neck Teeth:
screwdriver blade-shaped incisors (males and females)
supernumerary maxillary incisors (mesiodens) (65% males)
tapered premolar and molar cusps
diastema (males and females)

Neurologic Behavioral Psychiatric Manifestations:
autism
behavioral disturbances

Head And Neck Face:
long, narrow face

Head And Neck Ears:
large anteverted pinnae (90% males, 40% females)

Neurologic Central Nervous System:
mild-moderate mental retardation (80% affected males)

Clinical features from OMIM:

302350

Drugs & Therapeutics for Nance-Horan Syndrome

Search Clinical Trials , NIH Clinical Center for Nance-Horan Syndrome

Cochrane evidence based reviews: nance-horan syndrome

Genetic Tests for Nance-Horan Syndrome

Genetic tests related to Nance-Horan Syndrome:

# Genetic test Affiliating Genes
1 Nance-Horan Syndrome 30 NHS

Anatomical Context for Nance-Horan Syndrome

MalaCards organs/tissues related to Nance-Horan Syndrome:

42
Testes, Eye, Prostate, Kidney, Brain, Bone, Breast

Publications for Nance-Horan Syndrome

Articles related to Nance-Horan Syndrome:

(show top 50) (show all 3002)
# Title Authors Year
1
Impact of Emergency Medicine Consultants and Clinical Advisors on a NHS 111 Clinical Assessment Service. ( 30940680 )
2019
2
David Oliver: Why aren't more doctors NHS chief executives? ( 30967376 )
2019
3
Does NICE support NHS England's plan to restrict interventions? ( 30967389 )
2019
4
Nurses deserve to be honoured in the NHS Parliamentary Awards. ( 30969873 )
2019
5
Improving NHS trusts' learning from patient deaths. ( 30969877 )
2019
6
Cost of extending the NHS breast screening age range in England. ( 30971394 )
2019
7
Proposed changes to NHS legislation. ( 30975665 )
2019
8
NHS has a duty of care to its carers. ( 30979720 )
2019
9
NHS dental charges rise 5. ( 30979988 )
2019
10
Three quarters of NHS dental practices failing to fill vacancies. ( 30979993 )
2019
11
How NHS investment in proton beam therapy is coming to fruition. ( 30745321 )
2019
12
GP Online: turning expectations into reality with the new NHS app. ( 30745356 )
2019
13
Tackling racial bias in NHS workplaces. ( 30746970 )
2019
14
The role of the NHS Constitution in balancing the care equation. ( 30746984 )
2019
15
The importance of supporting NHS staff and patients through the complaints process. ( 30755406 )
2019
16
Ongoing GP shortage puts NHS long term plan at risk, warn experts. ( 30755418 )
2019
17
Medical cannabis: no NHS patients have benefited from law change, say campaigners. ( 30770373 )
2019
18
NHS cancer drugs fund. ( 30773975 )
2019
19
Impact of reduced working hours on the NHS. ( 30773979 )
2019
20
NHS long term plan is just one part of the picture. ( 30782591 )
2019
21
NHSX: Hancock sets up new policy unit to support technology in NHS. ( 30782592 )
2019
22
Correction to: Can spinal surgery in England be saved from litigation: a review of 978 clinical negligence claims against the NHS. ( 30324500 )
2019
23
The rebirth of medical paternalism: An NHS Trust v Y. ( 30301814 )
2019
24
Re-evaluating the assistant practitioner role in NHS England: Survey findings. ( 30294922 )
2019
25
30-day complication rates and patient-reported outcomes following day case primary lumbar microdiscectomy in a regional NHS spinal centre. ( 30286656 )
2019
26
Developing nursing leadership talent-Views from the NHS nursing leadership for south-east England. ( 30260079 )
2019
27
Child health technology: shaping the future of paediatrics and child health and improving NHS productivity. ( 30154177 )
2019
28
Implementing Prudent Healthcare in the NHS in Wales; what are the barriers and enablers for clinicians? ( 30144251 )
2019
29
First-in-Human Phase I Trial of a Tumor-Targeted Cytokine (NHS-IL12) in Subjects with Metastatic Solid Tumors. ( 30131389 )
2019
30
Outpatient CBT for Underweight Patients with Eating Disorders: Effectiveness Within a National Health Service (NHS) Eating Disorders Service. ( 30070185 )
2019
31
NHS dentistry is falling behind in an overall growing dental market. ( 30796380 )
2019
32
Should NHS Pensions pay HMRC's interest charges? ( 30796374 )
2019
33
Cancer screening: NHS launches overhaul of national programmes. ( 30792195 )
2019
34
Randomised controlled trial comparing uptake of NHS Health Check in response to standard letters, risk-personalised letters and telephone invitations. ( 30791884 )
2019
35
Utilisation of the principles of the Armed Forces Covenant in NHS Trusts and Clinical Commissioning Groups across England: a freedom of information investigation. ( 30782677 )
2019
36
Does regulation increase the rate at which doctors leave practice? Analysis of routine hospital data in the English NHS following the introduction of medical revalidation. ( 30744639 )
2019
37
Senior NHS managers will have skills logged to stop those who fail being "moved on quietly". ( 30733216 )
2019
38
Are more experienced clinicians better able to tolerate uncertainty and manage risks? A vignette study of doctors in three NHS emergency departments in England. ( 30728187 )
2019
39
An analysis of 11.3 million screening tests examining the association between recall and cancer detection rates in the English NHS breast cancer screening programme. ( 30715589 )
2019
40
Has the NHS Long Term Plan forgotten we are all going to die? ( 30712890 )
2019
41
The NHS refuses treatment. ( 30706758 )
2019
42
New personalised care plan for the NHS. ( 30705046 )
2019
43
Royal college's patient rep slams NHS over plans to review four hour target. ( 30705036 )
2019
44
The NHS England Fundamental Information Standard for Monitoring Sexual Orientation. ( 30705020 )
2019
45
Financial performance of English NHS trusts and variation in clinical outcomes: a longitudinal observational study. ( 30696667 )
2019
46
A&E doctors urge NHS not to abandon four hour target. ( 30696634 )
2019
47
An online tool for patients: eligible for free NHS dental treatment? ( 30796373 )
2019
48
Afterbirth support provision for women following a traumatic/distressing birth: Survey of NHS hospital trusts in England. ( 30690201 )
2019
49
The current role and perceived benefits and barriers of secondary care pharmacists facilitating patient participation in Clinical Trials of Investigational Medicinal Products (CTIMPs) conducted within the NHS: A cross-sectional survey. ( 30689249 )
2019
50
Carbon emissions: Dentistry in a sustainable NHS. ( 30679856 )
2019

Variations for Nance-Horan Syndrome

ClinVar genetic disease variations for Nance-Horan Syndrome:

6 (show top 50) (show all 68)
# Gene Variation Type Significance SNP ID Assembly Location
1 NHS NM_198270.3(NHS): c.2387dupC (p.Ser797Phefs) duplication Pathogenic rs786205255 GRCh38 Chromosome X, 17726556: 17726556
2 NHS NM_198270.3(NHS): c.2387dupC (p.Ser797Phefs) duplication Pathogenic rs786205255 GRCh37 Chromosome X, 17744676: 17744676
3 NHS NM_198270.3(NHS): c.3459delC (p.Leu1154Cysfs) deletion Pathogenic rs786205256 GRCh38 Chromosome X, 17727628: 17727628
4 NHS NM_198270.3(NHS): c.3459delC (p.Leu1154Cysfs) deletion Pathogenic rs786205256 GRCh37 Chromosome X, 17745748: 17745748
5 NHS NM_198270.3(NHS): c.1117C> T (p.Arg373Ter) single nucleotide variant Pathogenic rs132630322 GRCh37 Chromosome X, 17742490: 17742490
6 NHS NM_198270.3(NHS): c.1117C> T (p.Arg373Ter) single nucleotide variant Pathogenic rs132630322 GRCh38 Chromosome X, 17724370: 17724370
7 NHS NM_198270.3(NHS): c.718dupG (p.Glu240Glyfs) duplication Pathogenic rs1556030707 GRCh38 Chromosome X, 17687894: 17687894
8 NHS NM_198270.3(NHS): c.718dupG (p.Glu240Glyfs) duplication Pathogenic rs1556030707 GRCh37 Chromosome X, 17706014: 17706014
9 NHS NM_198270.3(NHS): c.115C> T (p.Gln39Ter) single nucleotide variant Pathogenic rs104894881 GRCh38 Chromosome X, 17375872: 17375872
10 NHS NM_198270.3(NHS): c.853-2A> G single nucleotide variant Pathogenic rs786205257 GRCh38 Chromosome X, 17721439: 17721439
11 NHS NM_198270.3(NHS): c.853-2A> G single nucleotide variant Pathogenic rs786205257 GRCh37 Chromosome X, 17739559: 17739559
12 NHS NM_198270.3(NHS): c.4603T> A (p.Ser1535Thr) single nucleotide variant Benign rs2071848 GRCh38 Chromosome X, 17732174: 17732174
13 NHS NM_198270.3(NHS): c.152C> T (p.Ala51Val) single nucleotide variant Uncertain significance rs727504039 GRCh37 Chromosome X, 17394032: 17394032
14 NHS NM_198270.3(NHS): c.152C> T (p.Ala51Val) single nucleotide variant Uncertain significance rs727504039 GRCh38 Chromosome X, 17375909: 17375909
15 NHS NM_198270.3(NHS): c.176_177delGCinsAA (p.Arg59Gln) indel Uncertain significance rs797045739 GRCh38 Chromosome X, 17375933: 17375934
16 NHS NM_198270.3(NHS): c.176_177delGCinsAA (p.Arg59Gln) indel Uncertain significance rs797045739 GRCh37 Chromosome X, 17394056: 17394057
17 NHS NM_198270.3(NHS): c.814C> T (p.Gln272Ter) single nucleotide variant Pathogenic GRCh37 Chromosome X, 17710550: 17710550
18 NHS NM_198270.3(NHS): c.814C> T (p.Gln272Ter) single nucleotide variant Pathogenic GRCh38 Chromosome X, 17692430: 17692430
19 NHS NC_000023.10: g.(?_17393861)_(17753592_?)del deletion Pathogenic GRCh37 Chromosome X, 17393861: 17753592
20 NHS NM_198270.3(NHS): c.2414G> A (p.Trp805Ter) single nucleotide variant Pathogenic GRCh38 Chromosome X, 17726583: 17726583
21 NHS NM_198270.3(NHS): c.2414G> A (p.Trp805Ter) single nucleotide variant Pathogenic GRCh37 Chromosome X, 17744703: 17744703
22 NHS NM_198270.3(NHS): c.4090G> A (p.Ala1364Thr) single nucleotide variant Uncertain significance GRCh38 Chromosome X, 17728259: 17728259
23 NHS NM_198270.3(NHS): c.4090G> A (p.Ala1364Thr) single nucleotide variant Uncertain significance GRCh37 Chromosome X, 17746379: 17746379
24 NHS NM_198270.3(NHS): c.408C> T (p.Leu136=) single nucleotide variant Likely benign rs1555981412 GRCh37 Chromosome X, 17394288: 17394288
25 NHS NM_198270.3(NHS): c.408C> T (p.Leu136=) single nucleotide variant Likely benign rs1555981412 GRCh38 Chromosome X, 17376165: 17376165
26 NHS NM_198270.3(NHS): c.2846C> T (p.Thr949Met) single nucleotide variant Likely benign rs373464879 GRCh38 Chromosome X, 17727015: 17727015
27 NHS NM_198270.3(NHS): c.2846C> T (p.Thr949Met) single nucleotide variant Likely benign rs373464879 GRCh37 Chromosome X, 17745135: 17745135
28 NHS NC_000023.10: g.(?_17393861)_(17653740_?)del deletion Pathogenic GRCh37 Chromosome X, 17393861: 17653740
29 NHS NM_198270.3(NHS): c.4093A> T (p.Lys1365Ter) single nucleotide variant Pathogenic rs1556039901 GRCh38 Chromosome X, 17728262: 17728262
30 NHS NM_198270.3(NHS): c.4093A> T (p.Lys1365Ter) single nucleotide variant Pathogenic rs1556039901 GRCh37 Chromosome X, 17746382: 17746382
31 NHS NC_000023.11: g.(?_17692315)_(17692488_?)del deletion Pathogenic GRCh37 Chromosome X, 17710435: 17710608
32 NHS NC_000023.11: g.(?_17692315)_(17692488_?)del deletion Pathogenic GRCh38 Chromosome X, 17692315: 17692488
33 NHS NM_198270.3(NHS): c.277G> T (p.Glu93Ter) single nucleotide variant Pathogenic rs1341004065 GRCh37 Chromosome X, 17394157: 17394157
34 NHS NM_198270.3(NHS): c.277G> T (p.Glu93Ter) single nucleotide variant Pathogenic rs1341004065 GRCh38 Chromosome X, 17376034: 17376034
35 NHS NM_198270.3(NHS): c.2214T> C (p.Tyr738=) single nucleotide variant Likely benign rs1323986389 GRCh38 Chromosome X, 17726383: 17726383
36 NHS NM_198270.3(NHS): c.2214T> C (p.Tyr738=) single nucleotide variant Likely benign rs1323986389 GRCh37 Chromosome X, 17744503: 17744503
37 NHS NM_198270.3(NHS): c.1697T> C (p.Met566Thr) single nucleotide variant Benign/Likely benign rs187739639 GRCh37 Chromosome X, 17743986: 17743986
38 NHS NM_198270.3(NHS): c.1697T> C (p.Met566Thr) single nucleotide variant Benign/Likely benign rs187739639 GRCh38 Chromosome X, 17725866: 17725866
39 NHS NM_198270.3(NHS): c.1399_1402delGACA (p.Asp467Lysfs) deletion Pathogenic rs1556038355 GRCh38 Chromosome X, 17725568: 17725571
40 NHS NM_198270.3(NHS): c.1399_1402delGACA (p.Asp467Lysfs) deletion Pathogenic rs1556038355 GRCh37 Chromosome X, 17743688: 17743691
41 NHS NM_198270.3(NHS): c.4385C> G (p.Ser1462Cys) single nucleotide variant Pathogenic rs1481421967 GRCh38 Chromosome X, 17731956: 17731956
42 NHS NM_198270.3(NHS): c.4385C> G (p.Ser1462Cys) single nucleotide variant Pathogenic rs1481421967 GRCh37 Chromosome X, 17750076: 17750076
43 NHS NM_001136024.3(NHS): c.163C> T (p.Gln55Ter) single nucleotide variant Likely pathogenic rs875989805 GRCh38 Chromosome X, 17687870: 17687870
44 NHS NM_001136024.3(NHS): c.163C> T (p.Gln55Ter) single nucleotide variant Likely pathogenic rs875989805 GRCh37 Chromosome X, 17705990: 17705990
45 NHS NM_198270.3(NHS): c.828G> A (p.Glu276=) single nucleotide variant Benign/Likely benign rs147497359 GRCh38 Chromosome X, 17692444: 17692444
46 NHS NM_198270.3(NHS): c.828G> A (p.Glu276=) single nucleotide variant Benign/Likely benign rs147497359 GRCh37 Chromosome X, 17710564: 17710564
47 NHS NM_198270.3(NHS): c.852delG (p.Ser285Profs) deletion Pathogenic rs786205677 GRCh37 Chromosome X, 17710588: 17710588
48 NHS NM_198270.3(NHS): c.852delG (p.Ser285Profs) deletion Pathogenic rs786205677 GRCh38 Chromosome X, 17692468: 17692468
49 NHS NM_198270.3(NHS): c.4603T> A (p.Ser1535Thr) single nucleotide variant Benign rs2071848 GRCh37 Chromosome X, 17750294: 17750294
50 NHS NM_198270.3(NHS): c.3141A> G (p.Leu1047=) single nucleotide variant Benign rs56691712 GRCh38 Chromosome X, 17727310: 17727310

Expression for Nance-Horan Syndrome

Search GEO for disease gene expression data for Nance-Horan Syndrome.

Pathways for Nance-Horan Syndrome

Pathways related to Nance-Horan Syndrome according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
11.34 ACTA1 REPS2
2 10.17 ACTA1 REPS2

GO Terms for Nance-Horan Syndrome

Cellular components related to Nance-Horan Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 lamellipodium GO:0030027 8.8 ACTA1 NCKAP1 NHS

Sources for Nance-Horan Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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