MCID: NLP001
MIFTS: 56

Nail-Patella Syndrome

Categories: Genetic diseases, Rare diseases, Bone diseases, Eye diseases, Nephrological diseases, Skin diseases, Fetal diseases

Aliases & Classifications for Nail-Patella Syndrome

MalaCards integrated aliases for Nail-Patella Syndrome:

Name: Nail-Patella Syndrome 53 12 23 49 24 55 71 28 13 51 41 14 69
Fong Disease 53 12 23 49 24
Turner-Kieser Syndrome 53 49 24 55
Onychoosteodysplasia 53 49 55 71
Hereditary Osteo-Onychodysplasia 23 24
Nps 53 71
Hereditary Onycho-Osteodysplasia 24
Hereditary Onychoostedysplasia 12
Arthro-Onychodysplasia 49
Nail Patella Syndrome 12
Turner-Kiser Syndrome 12
Osteo-Onychodysplasia 49
Osterreicher Syndrome 24
Pelvic Horn Syndrome 24
Iliac Horn Syndrome 12
Nps 1 49
Nps1 53

Characteristics:

Orphanet epidemiological data:

55
nail-patella syndrome
Inheritance: Autosomal dominant; Prevalence: 1-9/100000 (United Kingdom),1-9/100000 (Europe); Age of onset: Childhood,Infancy,Neonatal;

OMIM:

53
Inheritance:
autosomal dominant


HPO:

31
nail-patella syndrome:
Inheritance autosomal dominant inheritance


GeneReviews:

23
Penetrance Nps is fully penetrant, although the range and severity of symptoms may be extremely variable...

Classifications:



Summaries for Nail-Patella Syndrome

NIH Rare Diseases : 49 Nail-patella syndrome is an inherited condition characterized by abnormalities of the nails, knees, elbows, and pelvis. Some affected people may also experience problems in other areas of the body such as the kidneys and eyes. The severity of the condition and the associated signs and symptoms can vary significantly from person to person, even among members of the same family. Nail-patella syndrome is caused by changes (mutations) in the LMX1B gene and is inherited in an autosomal dominant manner. Treatment is supportive and based on the signs and symptoms present in each person. Last updated: 2/2/2016

MalaCards based summary : Nail-Patella Syndrome, also known as fong disease, is related to renal dysplasia and membranous nephropathy, and has symptoms including joint swelling, joint stiffness and osteoarthritis. An important gene associated with Nail-Patella Syndrome is LMX1B (LIM Homeobox Transcription Factor 1 Beta), and among its related pathways/superpathways are Primary Focal Segmental Glomerulosclerosis FSGS and Nephrin/Neph1 signaling in the kidney podocyte. Affiliated tissues include kidney, eye and bone, and related phenotypes are cardiovascular system and mortality/aging

UniProtKB/Swiss-Prot : 71 Nail-patella syndrome: Disease that cause abnormal skeletal patterning and renal dysplasia.

Genetics Home Reference : 24 Nail-patella syndrome is characterized by abnormalities of the nails, knees, elbows, and pelvis. The features of nail-patella syndrome vary in severity between affected individuals, even among members of the same family.

Wikipedia : 72 Nail–patella syndrome (NPS) (also known as \"HOOD syndrome\") is a genetic disorder that results in... more...

Description from OMIM: 161200
GeneReviews: NBK1132

Related Diseases for Nail-Patella Syndrome

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

(show top 50) (show all 88)
# Related Disease Score Top Affiliating Genes
1 renal dysplasia 29.8 LMX1B PAX2
2 membranous nephropathy 29.7 CD2AP NPHS2
3 kidney disease 28.8 CD2AP COL4A4 NPHS2 PAX2
4 ischiocoxopodopatellar syndrome 11.4
5 niemann-pick disease 11.4
6 nail-patella-like renal disease 11.1
7 salcedo syndrome 11.1
8 buschke-ollendorff syndrome 11.1
9 pterygium, antecubital 11.1
10 anxiety 11.1
11 holoprosencephaly 3 10.9
12 perry syndrome 10.9
13 reflex sympathetic dystrophy 10.9
14 spinocerebellar ataxia 23 10.9
15 retinitis pigmentosa 68 10.9
16 dissociative amnesia 10.9
17 autonomic nervous system disease 10.9
18 indeterminate leprosy 10.9
19 diverticulitis of colon 10.9
20 epicondylitis 10.9
21 nasal cavity disease 10.9
22 alcohol-induced mental disorder 10.9
23 alcoholic psychosis 10.9
24 neurodermatitis 10.9
25 dental pulp disease 10.9
26 sleep disorder 10.9
27 amphetamine abuse 10.9
28 cloacogenic carcinoma 10.9
29 sebaceous gland disease 10.9
30 necrotizing ulcerative gingivitis 10.9
31 nephrotic syndrome 10.3
32 sporadic idiopathic steroid-resistant nephrotic syndrome with focal segmental hyalinosis 10.1 CD2AP NPHS2
33 open-angle glaucoma 10.1
34 arthropathy 10.1
35 atrial septal defect 3 10.1 CD2AP NPHS2
36 familial nephrotic syndrome 10.1 CD2AP NPHS2
37 nephrotic syndrome, type 1 10.1 CD2AP NPHS2
38 alport syndrome, autosomal recessive 10.0 COL4A4 LMX1B
39 lipoid nephrosis 10.0 CD2AP NPHS2
40 diffuse mesangial sclerosis 10.0 NPHS2 PAX2
41 achondroplasia 9.9
42 atrial standstill 1 9.9
43 attention deficit-hyperactivity disorder 9.9
44 neurofibromatosis, type i 9.9
45 neurofibromatosis, type iv, of riccardi 9.9
46 patella aplasia-hypoplasia 9.9
47 tuberous sclerosis 1 9.9
48 anus, imperforate 9.9
49 familial mediterranean fever 9.9
50 mitochondrial myopathy 9.9

Graphical network of the top 20 diseases related to Nail-Patella Syndrome:



Diseases related to Nail-Patella Syndrome

Symptoms & Phenotypes for Nail-Patella Syndrome

Symptoms via clinical synopsis from OMIM:

53
Skin Nails Hair Nails:
koilonychia
anonychia
longitudinal ridging
abnormally shaped triangular or absent lunulae
slow nail growth
more
Skeletal Spine:
scoliosis
spina bifida

Laboratory Abnormalities:
proteinuria
hematuria

Genitourinary Kidneys:
nephrotic syndrome
renal failure
glomerulonephritis

Neurologic Central Nervous System:
spina bifida

Chest RibsSternum Clavicles And Scapulae:
thickening of the lateral border of the scapula
glenoid hypoplasia
malformed sternum
hypoplasia of first ribs

Head And Neck Ears:
sensorineural hearing loss

Muscle Soft Tissue:
pectoralis minor aplasia
biceps aplasia
triceps aplasia
quadriceps aplasia

Head And Neck Eyes:
ptosis
cataract
glaucoma
microcornea
keratoconus
more
Growth Height:
short stature

Head And Neck Mouth:
cleft palate
cleft lip

Skeletal Feet:
talipes equinovarus

Skeletal Limbs:
patellar dislocation
elongated radius with hypoplasia of radial head
elbow deformities (60-90%) with limited range of motion
hypoplastic or absent patella (60-90%)
disproportionate prominence of the femoral medial condyle

Skeletal Hands:
fifth finger clinodactyly

Skeletal Pelvis:
iliac horns arising from external iliac fossa


Clinical features from OMIM:

161200

Human phenotypes related to Nail-Patella Syndrome:

55 31 (show top 50) (show all 63)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 joint swelling 55 31 frequent (33%) Frequent (79-30%) HP:0001386
2 joint stiffness 55 31 hallmark (90%) Very frequent (99-80%) HP:0001387
3 osteoarthritis 55 31 frequent (33%) Frequent (79-30%) HP:0002758
4 hypertension 55 31 occasional (7.5%) Occasional (29-5%) HP:0000822
5 hearing impairment 55 31 occasional (7.5%) Occasional (29-5%) HP:0000365
6 cataract 55 31 occasional (7.5%) Occasional (29-5%) HP:0000518
7 skeletal dysplasia 55 31 hallmark (90%) Very frequent (99-80%) HP:0002652
8 renal insufficiency 55 31 occasional (7.5%) Occasional (29-5%) HP:0000083
9 proteinuria 55 31 frequent (33%) Frequent (79-30%) HP:0000093
10 nephropathy 55 31 occasional (7.5%) Occasional (29-5%) HP:0000112
11 exostoses 55 31 hallmark (90%) Very frequent (99-80%) HP:0100777
12 joint hyperflexibility 55 31 hallmark (90%) Very frequent (99-80%) HP:0005692
13 cubitus valgus 55 31 hallmark (90%) Very frequent (99-80%) HP:0002967
14 hypoplastic toenails 55 31 hallmark (90%) Very frequent (99-80%) HP:0001800
15 abnormality of the fingernails 55 31 hallmark (90%) Very frequent (99-80%) HP:0001231
16 nephrotic syndrome 55 31 frequent (33%) Frequent (79-30%) HP:0000100
17 glomerulopathy 55 31 occasional (7.5%) Occasional (29-5%) HP:0100820
18 hematuria 55 31 occasional (7.5%) Occasional (29-5%) HP:0000790
19 glaucoma 55 31 occasional (7.5%) Occasional (29-5%) HP:0000501
20 patellar dislocation 55 31 hallmark (90%) Very frequent (99-80%) HP:0002999
21 vasculitis 55 31 occasional (7.5%) Occasional (29-5%) HP:0002633
22 ridged nail 55 31 hallmark (90%) Very frequent (99-80%) HP:0001807
23 aplasia/hypoplasia of the patella 55 31 hallmark (90%) Very frequent (99-80%) HP:0006498
24 concave nail 55 31 hallmark (90%) Very frequent (99-80%) HP:0001598
25 thickening of the lateral border of the scapula 55 31 hallmark (90%) Very frequent (99-80%) HP:0006650
26 iliac horns 55 31 hallmark (90%) Very frequent (99-80%) HP:0009780
27 pectus excavatum 31 HP:0000767
28 joint dislocation 55 Frequent (79-30%)
29 ptosis 31 HP:0000508
30 scoliosis 31 HP:0002650
31 pes planus 31 HP:0001763
32 sensorineural hearing impairment 31 HP:0000407
33 short stature 31 HP:0004322
34 cleft palate 31 HP:0000175
35 clinodactyly of the 5th finger 31 HP:0004209
36 anonychia 31 HP:0001798
37 talipes equinovarus 31 HP:0001762
38 spina bifida 31 HP:0002414
39 abnormality of the elbow 55 Very frequent (99-80%)
40 abnormality of the upper limb 55 Frequent (79-30%)
41 cleft upper lip 31 HP:0000204
42 microcornea 31 HP:0000482
43 keratoconus 31 HP:0000563
44 abnormality of the lower limb 55 Frequent (79-30%)
45 abnormality of the toenails 55 Very frequent (99-80%)
46 aplastic/hypoplastic toenail 55 Very frequent (99-80%)
47 lumbar hyperlordosis 31 HP:0002938
48 microphakia 31 HP:0012376
49 limited elbow extension 31 HP:0001377
50 patellar aplasia 31 frequent (33%) HP:0006443

UMLS symptoms related to Nail-Patella Syndrome:


koilonychia, metatarsalgia, arthralgia

MGI Mouse Phenotypes related to Nail-Patella Syndrome:

43
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 9.8 AK1 CD2AP COL5A1 LMX1B NPHS2 PAX2
2 mortality/aging MP:0010768 9.76 ASS1 CD2AP COL4A4 COL5A1 LMX1B NPHS2
3 renal/urinary system MP:0005367 9.35 CD2AP COL4A4 LMX1B NPHS2 PAX2
4 vision/eye MP:0005391 9.02 ASS1 COL4A4 COL5A1 LMX1B PAX2

Drugs & Therapeutics for Nail-Patella Syndrome

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Study of Heritable Connective Tissue Disorders Completed NCT00001641

Search NIH Clinical Center for Nail-Patella Syndrome

Cochrane evidence based reviews: nail-patella syndrome

Genetic Tests for Nail-Patella Syndrome

Genetic tests related to Nail-Patella Syndrome:

# Genetic test Affiliating Genes
1 Nail-Patella Syndrome 28 LMX1B

Anatomical Context for Nail-Patella Syndrome

MalaCards organs/tissues related to Nail-Patella Syndrome:

38
Kidney, Eye, Bone, Skin, Colon, Heart, Lymph Node

Publications for Nail-Patella Syndrome

Articles related to Nail-Patella Syndrome:

(show top 50) (show all 236)
# Title Authors Year
1
A familial case of nail patella syndrome with a heterozygous in-frame indel mutation in the LIM domain of LMX1B. ( 29290531 )
2017
2
Nail-patella syndrome. ( 28681095 )
2017
3
Steroid-resistant nephrotic syndrome as the initial presentation of nail-patella syndrome: a case of a de novo LMX1B mutation. ( 28335748 )
2017
4
Prenatal diagnosis of nail patella syndrome: A case report. ( 29089684 )
2017
5
AJKD Atlas of Renal Pathology: Nail-Patella Syndrome-Associated Nephropathy. ( 28941488 )
2017
6
50 Years Ago in The Journal of Pediatrics: The Nail-Patella Syndrome: Clinical and Genetic Aspects of 5 Kindreds with 38 Affected Family Members. ( 26810100 )
2016
7
Radiological characteristics of the knee joint in nail patella syndrome. ( 27037430 )
2016
8
Nail-patella syndrome: report of 11 pediatric cases. ( 27109743 )
2016
9
Management of patellar problems in skeletally mature patients with nail-patella syndrome. ( 26872454 )
2016
10
Spectrum of LMX1B mutations: from nail-patella syndrome to isolated nephropathy. ( 27450397 )
2016
11
Treatment of patellar instability in a case of hereditary onycho-osteodysplasia (nail-patella syndrome) with medial patellofemoral ligament reconstruction: A case report. ( 27284321 )
2016
12
Nail-patella-syndrome in a young patient followed up over 10 years: relevance of the sagittal trochlear septum for patellofemoral pathology. ( 27247258 )
2016
13
Nail patella syndrome: Knee symptoms and surgical outcomes. A questionnaire-based survey. ( 26596417 )
2015
14
Radiographic findings in the nail-patella syndrome. ( 26130880 )
2015
15
Median nail damage in nail-patella syndrome associated with triangular lunulae. ( 26042812 )
2015
16
Nail-Patella Syndrome: A Report of a Saudi Arab Family With an Autosomal Recessive Inheritance. ( 26025008 )
2015
17
Nail-patella syndrome. ( 25763426 )
2015
18
Spontaneous coronary artery dissection in a parturient with Nail-Patella syndrome. ( 25433575 )
2015
19
Nail-Patella Syndrome: clinical and molecular data in 55 families raising the hypothesis of a genetic heterogeneity. ( 25898926 )
2015
20
A Microdeletion of Chromosome 9q33.3 Encompasses the Entire LMX1B Gene in a Chinese Family with Nail Patella Syndrome. ( 25380522 )
2014
21
Arthropathy and proteinuria: nail-patella syndrome revisited. ( 25408626 )
2014
22
Biochemical properties of the recurrent LMX1b truncated mutant carried in a Taiwanese family with nail-patella syndrome. ( 24720768 )
2014
23
Correction of malformative patellar instability in patients with nail-patella syndrome: a case report and review of the literature. ( 24029584 )
2013
24
Quiz page December 2013: Hypoplastic nails, bowed elbows, and nephrotic syndrome. Nail-patella syndrome (hereditary osteo-onychodysplasia, Turner-Keiser syndrome, Fong disease). ( 24267390 )
2013
25
Intercondylar synovial septum in two patients with nail-patella syndrome. ( 23288746 )
2013
26
Nail-patella syndrome. A case with a de novo mutation in the LMX1B gene not previously described. ( 23897191 )
2013
27
Nail-patella syndrome-a novel mutation in the LMX1B gene. ( 26064490 )
2013
28
A case of nail-patella syndrome associated with thyrotoxicosis. ( 22574102 )
2012
29
A hypoplastic patella fracture in nail patella syndrome: a case report. ( 22800460 )
2012
30
A case of ectopic cilia in nail-patella syndrome. ( 22441588 )
2012
31
Nail patella syndrome: a rare cause of renal failure in a young adult. ( 22145064 )
2011
32
c.194 A>C (Q65P) mutation in the LMX1B gene in patients with nail-patella syndrome associated with glaucoma. ( 21850167 )
2011
33
Nail-patella syndrome. ( 21952482 )
2011
34
Increased symptoms of attention deficit hyperactivity disorder and major depressive disorder symptoms in Nail-patella syndrome: potential association with LMX1B loss-of-function. ( 21184584 )
2011
35
The co-occurrence of neurofibromatosis type I and nail-patella syndrome in a 5-generation pedigree. ( 21920246 )
2011
36
Nail-patella syndrome--a preliminary study for genetic linkage with ABO blood group. ( 21510571 )
2010
37
A spectrum of LMX1B mutations in Nail-Patella syndrome: new point mutations, deletion, and evidence of mosaicism in unaffected parents. ( 20531206 )
2010
38
Nail-patella syndrome associated with short stature: a case series. ( 20811572 )
2010
39
Nail-patella syndrome with an emphasis on the risk of renal and ocular findings. ( 20199424 )
2010
40
Nail-patella syndrome (Fong disease). ( 20143059 )
2010
41
Renal involvement in nail-patella syndrome: report of three cases. ( 19296234 )
2010
42
Omphalocele-exstrophy-imperforate anus-spinal defects (OEIS) complex in a child with nail-patella syndrome. ( 20880310 )
2010
43
Nail-patella syndrome, infantile nephrotic syndrome: complete remission with antiproteinuric treatment. ( 19541663 )
2009
44
A synonymous genetic alteration of LMX1B in a family with nail-patella syndrome. ( 19721866 )
2009
45
Nail-patella syndrome, infantile nephrotic syndrome: complete remission with antiproteinuric treatment. ( 19147669 )
2009
46
Manifold functions of the Nail-Patella Syndrome gene Lmx1b in vertebrate development. ( 19222527 )
2009
47
Nail patella syndrome. ( 19907953 )
2009
48
Clinico-genetic study of nail-patella syndrome. ( 19194568 )
2009
49
Kidney disease in nail-patella syndrome. ( 18535845 )
2009
50
Crescentic glomerulonephritis associated with nail-patella syndrome in a 13-year-old girl. ( 18533963 )
2008

Variations for Nail-Patella Syndrome

UniProtKB/Swiss-Prot genetic disease variations for Nail-Patella Syndrome:

71 (show all 30)
# Symbol AA change Variation ID SNP ID
1 LMX1B p.Cys118Phe VAR_004198 rs121909488
2 LMX1B p.Cys165Trp VAR_004199
3 LMX1B p.Arg223Gln VAR_004200 rs121909491
4 LMX1B p.Ala236Pro VAR_004201
5 LMX1B p.Ser241Pro VAR_004202
6 LMX1B p.Arg249Pro VAR_004203
7 LMX1B p.Ala253Val VAR_004204
8 LMX1B p.Asn269Lys VAR_004205 rs121909486
9 LMX1B p.His77Asn VAR_015190
10 LMX1B p.Leu81Trp VAR_015191
11 LMX1B p.Cys83Phe VAR_015192
12 LMX1B p.Cys83Trp VAR_015193
13 LMX1B p.Cys103Trp VAR_015194
14 LMX1B p.Cys118Tyr VAR_015195
15 LMX1B p.His137Tyr VAR_015196
16 LMX1B p.Cys140Tyr VAR_015197
17 LMX1B p.Trp266Cys VAR_015198
18 LMX1B p.Cys59Arg VAR_015201
19 LMX1B p.Cys59Ser VAR_015202
20 LMX1B p.His77Gln VAR_015203
21 LMX1B p.His77Tyr VAR_015204
22 LMX1B p.Cys80Arg VAR_015205
23 LMX1B p.Cys83Gly VAR_015206
24 LMX1B p.Cys83Tyr VAR_015207
25 LMX1B p.Cys86Arg VAR_015208
26 LMX1B p.Asp106Gly VAR_015209
27 LMX1B p.Cys143Ser VAR_015210
28 LMX1B p.Cys146Phe VAR_015211
29 LMX1B p.Cys146Tyr VAR_015212
30 LMX1B p.Leu252Pro VAR_015213

ClinVar genetic disease variations for Nail-Patella Syndrome:

6 (show all 17)
# Gene Variation Type Significance SNP ID Assembly Location
1 LMX1B NM_002316.3(LMX1B): c.807C> A (p.Asn269Lys) single nucleotide variant Pathogenic rs121909486 GRCh37 Chromosome 9, 129455868: 129455868
2 LMX1B NM_002316.3(LMX1B): c.661C> T (p.Arg221Ter) single nucleotide variant Pathogenic rs121909487 GRCh37 Chromosome 9, 129455522: 129455522
3 LMX1B LMX1B, 1-BP INS, 713A insertion Pathogenic
4 LMX1B NM_002316.3(LMX1B): c.353G> T (p.Cys118Phe) single nucleotide variant Pathogenic rs121909488 GRCh37 Chromosome 9, 129453141: 129453141
5 LMX1B LMX1B, 2-BP DEL, 233TG deletion Pathogenic
6 LMX1B NM_002316.3(LMX1B): c.244C> T (p.Gln82Ter) single nucleotide variant Pathogenic rs121909489 GRCh37 Chromosome 9, 129377766: 129377766
7 LMX1B NM_002316.3(LMX1B): c.691C> T (p.Arg231Ter) single nucleotide variant Pathogenic rs121909490 GRCh37 Chromosome 9, 129455552: 129455552
8 LMX1B NM_002316.3(LMX1B): c.668G> A (p.Arg223Gln) single nucleotide variant Pathogenic rs121909491 GRCh37 Chromosome 9, 129455529: 129455529
9 LMX1B LMX1B, 672, G-A, +1 single nucleotide variant Pathogenic
10 LMX1B LMX1B, 672, G-T, +1 single nucleotide variant Pathogenic
11 LMX1B NM_002316.3(LMX1B): c.745C> T (p.Arg249Ter) single nucleotide variant Pathogenic rs121909492 GRCh37 Chromosome 9, 129455806: 129455806
12 LMX1B LMX1B, 17-BP DEL deletion Pathogenic
13 LMX1B LMX1B, DEL deletion Pathogenic
14 LMX1B NM_001174146.1(LMX1B): c.306C> G (p.Tyr102Ter) single nucleotide variant Pathogenic rs864621969 GRCh38 Chromosome 9, 126615549: 126615549
15 LMX1B NM_002316.3(LMX1B): c.192dupC (p.Asp65Argfs) duplication Likely pathogenic rs1057516196 GRCh38 Chromosome 9, 126615435: 126615435
16 LMX1B NM_002316.3(LMX1B): c.543delC (p.Asp182Thrfs) deletion Pathogenic rs1114167362 GRCh37 Chromosome 9, 129453331: 129453331
17 LMX1B NM_002316.3(LMX1B): c.176G> T (p.Cys59Phe) single nucleotide variant Pathogenic GRCh37 Chromosome 9, 129377698: 129377698

Expression for Nail-Patella Syndrome

Search GEO for disease gene expression data for Nail-Patella Syndrome.

Pathways for Nail-Patella Syndrome

Pathways related to Nail-Patella Syndrome according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 10.89 CD2AP COL4A4 LMX1B NPHS2 PAX2
2 10.37 CD2AP NPHS2

GO Terms for Nail-Patella Syndrome

Cellular components related to Nail-Patella Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 collagen trimer GO:0005581 8.96 COL4A4 COL5A1
2 basement membrane GO:0005604 8.62 COL4A4 COL5A1

Biological processes related to Nail-Patella Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 collagen catabolic process GO:0030574 8.62 COL4A4 COL5A1

Molecular functions related to Nail-Patella Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 extracellular matrix structural constituent GO:0005201 8.62 COL4A4 COL5A1

Sources for Nail-Patella Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
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47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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