FODH
MCID: FCL009
MIFTS: 54

Focal Dermal Hypoplasia (FODH) malady

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

Aliases & Classifications for Focal Dermal Hypoplasia

Aliases & Descriptions for Focal Dermal Hypoplasia:

Name: Focal Dermal Hypoplasia 54 12 23 50 24 25 56 66 29 13 42 14 69
Goltz Syndrome 12 23 50 24 25 56 66
Goltz-Gorlin Syndrome 23 50 24 25 56 66
Fodh 50 24 66
Fdh 50 24 66
Goltz Gorlin Syndrome 50 66
Dhof 50 66

Characteristics:

Orphanet epidemiological data:

56
focal dermal hypoplasia
Inheritance: X-linked dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Neonatal;

GeneReviews:

23
focal dermal hypoplasia:
Inheritance x-linked dominant inheritance


GeneReviews:

23
Penetrance Focal dermal hypoplasia appears to be highly penetrant in females, but the phenotypic severity can occasionally be mitigated by skewed x-chromosome inactivation...

Classifications:



External Ids:

OMIM 54 305600
Disease Ontology 12 DOID:2120
MeSH 42 D005489
NCIt 47 C84715
SNOMED-CT 64 205573006 2298005
Orphanet 56 ORPHA2092
MESH via Orphanet 43 D005489
ICD10 via Orphanet 34 Q82.8
UMLS via Orphanet 70 C0016395
MedGen 40 C0016395
UMLS 69 C0016395

Summaries for Focal Dermal Hypoplasia

NIH Rare Diseases : 50 focal dermal hypoplasia is a genetic disorder that primarily affects the skin, skeleton, eyes, and face. the skin abnormalities are present from birth and can include streaks of very thin skin (dermal hypoplasia), cutis aplasia, and telangiectases. they also may abnormalities in the nails, hands, and feet. some of the eye findings present may include small eyes (microphthalmia), absent or severely underdeveloped eyes (anophthalmia), and problems with the tear ducts. people with focal dermal hypoplasia may also have distinctive facial features such as a pointed chin, small ears, notched nostrils, and a slight difference in the size and shape of the right and left sides of the face (facial asymmetry). most individuals with this condition are female. males usually have milder signs and symptoms than females. although intelligence is typically unaffected, some individuals have intellectual disability. this condition is caused by mutations in the porcn gene and is inherited in an x-linked dominant manner. most cases of focal dermal hypoplasia in females result from new mutations in the porcn gene and occur in people with no history of the disorder in their family. when focal dermal hypoplasia occurs in males, it always results from a new mutation in this gene that is not inherited. treatment is based on the signs and symptoms present in the person; however, care usually involves a team of specialists, including dermatologists, otolaryngologist, physical/occupational therapists, and hand surgeons. last updated: 2/5/2016

MalaCards based summary : Focal Dermal Hypoplasia, also known as goltz syndrome, is related to basal cell nevus syndrome and focal facial dermal dysplasia, and has symptoms including abdominal pain, macule and low-set ears. An important gene associated with Focal Dermal Hypoplasia is PORCN (Porcupine O-Acyltransferase), and among its related pathways/superpathways is WNT ligand biogenesis and trafficking. Affiliated tissues include skin, eye and retina, and related phenotypes are digestive/alimentary and craniofacial

UniProtKB/Swiss-Prot : 66 Focal dermal hypoplasia: A rare congenital ectomesodermal disorder characterized by a combination of skin defects, skeletal abnormalities, and ocular anomalies. Affected individuals have patchy dermal hypoplasia, often in a distribution pattern following the Blaschko lines, and areas of subcutaneous fat herniation or deposition of fat into the dermis. In addition, sparse and brittle hair, hypoplastic nails and papillomas have been described. Skeletal abnormalities usually comprise syndactyly, ectrodactyly, and brachydactyly, and in some cases osteopathia striata has been seen. Patients frequently have ocular anomalies, including microphthalmia/ anophthalmia, coloboma, pigmentary and vascularization defects of the retina. Dental abnormalities are often present.

Genetics Home Reference : 25 Focal dermal hypoplasia is a genetic disorder that primarily affects the skin, skeleton, eyes, and face. About 90 percent of affected individuals are female. Males usually have milder signs and symptoms than females. Although intelligence is typically unaffected, some individuals have intellectual disability.

Wikipedia : 71 Focal dermal hypoplasia (also known as \"Goltz syndrome\") is a form of ectodermal dysplasia. It is a... more...

Description from OMIM: 305600
GeneReviews: NBK1543

Related Diseases for Focal Dermal Hypoplasia

Diseases related to Focal Dermal Hypoplasia via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 72)
id Related Disease Score Top Affiliating Genes
1 basal cell nevus syndrome 11.6
2 focal facial dermal dysplasia 11.0
3 osteopathia striata with cranial sclerosis 11.0
4 nevoid hypermelanosis, linear and whorled 10.8
5 atopic dermatitis 6 10.2 ALB CD79A
6 colloid adenoma 10.2 ALB CD79A
7 schneiderian carcinoma 10.2 ALB CD79A
8 striatonigral degeneration 10.2 ALB CD79A
9 infertility due to extratesticular cause 10.2 ALB CD79A
10 congenital nystagmus 10.2 ALB CD79A
11 male genital organ stricture 10.2 ALB CD79A
12 eosinophilic gastroenteritis 10.2 PORCN PTCH1
13 coronary artery dissection, spontaneous 10.2 ALB CD79A
14 acute cervicitis 10.2 ALB CD79A
15 ciliary discoordination, due to random ciliary orientation 10.2 ALB CD79A
16 angiokeratoma 10.2 ALB CD79A
17 venezuelan equine encephalitis 10.2 ALB CD79A
18 dermatomycosis 10.2 ALB CD79A
19 mikulicz disease 10.2 ALB CD79A
20 epiphora due to excess lacrimation 10.2 PORCN PTCH1
21 malignant hyperthermia susceptibility 1 10.2 ALB CD79A
22 hemiplegia 10.2 ALB CD79A
23 spastic entropion 10.2 ALB CD79A
24 bronchiolitis 10.2 ALB CD79A
25 autonomic peripheral neuropathy 10.1 ALB CD79A
26 bladder sarcoma 10.1 ALB CD79A
27 early yaws 10.1 ALB CD79A
28 choreatic disease 10.1 ALB CD79A
29 breast apocrine carcinoma in situ 10.1 ALB CD79A
30 breasts and/or nipples, aplasia or hypoplasia of, 2 10.1 PORCN PTCH1
31 paranasal sinus sarcoma 10.1 ALB CD79A
32 y-linked disease 10.1 PORCN PTCH1
33 mixed germ cell-sex cord neoplasm 10.1 ALB CD79A
34 anterior foramen magnum meningioma 10.1 ALB CD79A
35 chronic mucocutaneous candidiasis 10.1 CD79A HCCS
36 uterine ligament serous adenocarcinoma 10.1 ALB CD79A
37 familial nephrotic syndrome 10.1 ALB CD79A
38 familial renal papillary carcinoma 10.1 ALB CD79A
39 uterus interstitial leiomyoma 10.0 ALB CD79A
40 nephropathy with pretibial epidermolysis bullosa and deafness 10.0 ALB CD79A
41 uterine ligament clear cell adenocarcinoma 10.0 ALB CD79A
42 papilloma 10.0
43 fg syndrome 5 10.0 ALB CD79A
44 basal cell carcinoma 10.0
45 foodborne botulism 9.9 ALB CD79A
46 myelomeningocele 9.9
47 esophagitis 9.9
48 retinitis 9.9
49 hydrocephalus 9.9
50 keratoconus 9.7

Graphical network of the top 20 diseases related to Focal Dermal Hypoplasia:



Diseases related to Focal Dermal Hypoplasia

Symptoms & Phenotypes for Focal Dermal Hypoplasia

Symptoms by clinical synopsis from OMIM:

305600

Clinical features from OMIM:

305600

Human phenotypes related to Focal Dermal Hypoplasia:

56 32 (show top 50) (show all 131)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 abdominal pain 56 32 Occasional (29-5%) HP:0002027
2 macule 56 32 Very frequent (99-80%) HP:0012733
3 low-set ears 56 32 Very frequent (99-80%) HP:0000369
4 abnormality of epiphysis morphology 56 32 Very frequent (99-80%) HP:0005930
5 finger syndactyly 56 32 Very frequent (99-80%) HP:0006101
6 scoliosis 56 32 Frequent (79-30%) HP:0002650
7 inguinal hernia 56 32 Occasional (29-5%) HP:0000023
8 hearing impairment 56 32 Very frequent (99-80%) HP:0000365
9 corneal opacity 56 32 Frequent (79-30%) HP:0007957
10 open bite 56 32 Frequent (79-30%) HP:0010807
11 umbilical hernia 56 32 Occasional (29-5%) HP:0001537
12 gastroesophageal reflux 56 32 Occasional (29-5%) HP:0002020
13 cognitive impairment 56 32 Frequent (79-30%) HP:0100543
14 subcutaneous nodule 56 32 Frequent (79-30%) HP:0001482
15 abnormality of the nail 56 32 Very frequent (99-80%) HP:0001597
16 strabismus 56 32 Frequent (79-30%) HP:0000486
17 patent ductus arteriosus 56 32 Occasional (29-5%) HP:0001643
18 thin skin 56 32 Very frequent (99-80%) HP:0000963
19 horseshoe kidney 56 32 Frequent (79-30%) HP:0000085
20 chorioretinal coloboma 56 32 Frequent (79-30%) HP:0000567
21 microphthalmia 56 32 Frequent (79-30%) HP:0000568
22 multicystic kidney dysplasia 56 32 Frequent (79-30%) HP:0000003
23 renal hypoplasia/aplasia 56 32 Occasional (29-5%) HP:0008678
24 ectopia lentis 56 32 Frequent (79-30%) HP:0001083
25 hypoplasia of the iris 56 32 Frequent (79-30%) HP:0007676
26 abnormality of dental enamel 56 32 Very frequent (99-80%) HP:0000682
27 hand polydactyly 56 32 Very frequent (99-80%) HP:0001161
28 ventricular septal defect 56 32 Occasional (29-5%) HP:0001629
29 spina bifida 56 32 Frequent (79-30%) HP:0002414
30 reduced number of teeth 56 32 Very frequent (99-80%) HP:0009804
31 erythema 56 32 Frequent (79-30%) HP:0010783
32 alopecia 56 32 Frequent (79-30%) HP:0001596
33 split hand 56 32 Very frequent (99-80%) HP:0001171
34 acute hepatic failure 56 32 Occasional (29-5%) HP:0006554
35 pointed chin 56 32 Occasional (29-5%) HP:0000307
36 abnormality of dental morphology 56 32 Very frequent (99-80%) HP:0006482
37 narrow nasal bridge 56 32 Occasional (29-5%) HP:0000446
38 iris coloboma 56 32 Frequent (79-30%) HP:0000612
39 abnormality of skin pigmentation 56 32 Very frequent (99-80%) HP:0001000
40 camptodactyly of finger 56 32 Very frequent (99-80%) HP:0100490
41 facial asymmetry 56 32 Frequent (79-30%) HP:0000324
42 toe syndactyly 56 32 Very frequent (99-80%) HP:0001770
43 lower limb asymmetry 56 32 Very frequent (99-80%) HP:0100559
44 hydronephrosis 56 32 Occasional (29-5%) HP:0000126
45 papilloma 56 32 Very frequent (99-80%) HP:0012740
46 aplasia/hypoplasia of the lungs 56 32 Occasional (29-5%) HP:0006703
47 congenital diaphragmatic hernia 56 32 Occasional (29-5%) HP:0000776
48 omphalocele 56 32 Occasional (29-5%) HP:0001539
49 diastasis recti 56 32 Frequent (79-30%) HP:0001540
50 abnormality of the middle ear 56 32 Very frequent (99-80%) HP:0000370

UMLS symptoms related to Focal Dermal Hypoplasia:


joint laxity

MGI Mouse Phenotypes related to Focal Dermal Hypoplasia:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 digestive/alimentary MP:0005381 9.72 ALB OFD1 PORCN PTCH1 WNT3A
2 craniofacial MP:0005382 9.67 OFD1 PORCN PTCH1 WNT3A
3 embryo MP:0005380 9.65 HCCS OFD1 PORCN PTCH1 WNT3A
4 limbs/digits/tail MP:0005371 9.46 OFD1 PORCN PTCH1 WNT3A
5 normal MP:0002873 9.35 ALB CD79A HCCS PORCN PTCH1
6 renal/urinary system MP:0005367 9.1 ALB CD79A OFD1 PORCN PTCH1 WNT3A

Drugs & Therapeutics for Focal Dermal Hypoplasia

Interventional clinical trials:


id Name Status NCT ID Phase
1 Efficacy, Safety and Tolerability of Topically Applied LDE225 Cream (Hedgehog Pathway Inhibitor) in Adult Patients With Nevoid Basal Cell Carcinoma Syndrome (NBCCS) Withdrawn NCT03070691 Phase 2, Phase 3
2 A Trial to Evaluate the Safety, Local Tolerability, Pharmacokinetics and Pharmacodynamics of LDE225 on Skin Basal Cell Carcinomas in Gorlin Syndrome Patients Completed NCT00961896 Phase 2
3 Efficacy, Safety and Pharmacokinetics of Oral LDE225 in Treatment of Patients With Nevoid Basal Cell Carcinoma Syndrome (NBCCS) Completed NCT01350115 Phase 2
4 Study of Selected X-linked Disorders: Goltz Syndrome Recruiting NCT00691223
5 Growth Arrest in Focal Dermal Hypoplasia Active, not recruiting NCT02463656

Search NIH Clinical Center for Focal Dermal Hypoplasia

Cochrane evidence based reviews: focal dermal hypoplasia

Genetic Tests for Focal Dermal Hypoplasia

Genetic tests related to Focal Dermal Hypoplasia:

id Genetic test Affiliating Genes
1 Focal Dermal Hypoplasia 29 24 PORCN

Anatomical Context for Focal Dermal Hypoplasia

MalaCards organs/tissues related to Focal Dermal Hypoplasia:

39
Skin, Eye, Retina, Bone, Kidney, Lung, Uterus

Publications for Focal Dermal Hypoplasia

Articles related to Focal Dermal Hypoplasia:

(show top 50) (show all 194)
id Title Authors Year
1
Almost Unilateral Focal Dermal Hypoplasia. ( 28223754 )
2017
2
Mosaic Focal Dermal Hypoplasia (Goltz Syndrome) in Two Female Patients. ( 28293688 )
2017
3
Esophageal squamous papillomas with focal dermal hypoplasia and eosinophilic esophagitis. ( 28405153 )
2017
4
Focal dermal hypoplasia: inheritance from father to daughter. ( 28397289 )
2017
5
Erratum to Prenatal diagnosis of focal dermal hypoplasia: Report of three fetuses and review of the literature. ( 28422450 )
2017
6
Phenotypic and molecular characterization of focal dermal hypoplasia in 18 individuals. ( 26853229 )
2016
7
Cognitive and psychological functioning in focal dermal hypoplasia. ( 26818018 )
2016
8
Novel PORCN mutation in a severe case of Focal Dermal Hypoplasia. ( 26603014 )
2016
9
Dermatologic findings of focal dermal hypoplasia (Goltz syndrome). ( 26858134 )
2016
10
Cross-Sectional Study Evaluating Skin, Hair, Nail, and Bone Disease in Patients with Focal Dermal Hypoplasia. ( 28025844 )
2016
11
Two female cases of focal dermal hypoplasia: One new case with a novel variant in PORCN (c.808_811delGGGG). ( 28012187 )
2016
12
Growth, nutritional, and gastrointestinal aspects of focal dermal hypoplasia (Goltz-Gorlin syndrome). ( 27001925 )
2016
13
Focal Dermal Hypoplasia or Goltz Syndrome: A Rare Association with Keratoconus. ( 26955112 )
2016
14
Ophthalmologic manifestations of focal dermal hypoplasia (Goltz syndrome): A case series of 18 patients. ( 27001926 )
2016
15
Prenatal diagnosis of focal dermal hypoplasia: Report of three fetuses and review of the literature. ( 27623003 )
2016
16
Oral phenotype and variation in focal dermal hypoplasia. ( 26843121 )
2016
17
Focal Dermal Hypoplasia with a De novo Mutation p.E300* of PORCN Gene in a Male Infant. ( 27904205 )
2016
18
Multiple requirements of the focal dermal hypoplasia gene porcupine during ocular morphogenesis. ( 25451153 )
2015
19
DETECTING PORCN MICRODELETIONS IN A LARGE FAMILY WITH FOCAL DERMAL HYPOPLASIA. ( 26349189 )
2015
20
Mosaic focal dermal hypoplasia caused by a novel somatic mutation in PORCN detected in affected skin. ( 25640089 )
2015
21
Focal Dermal Hypoplasia Due to De Novo Mutation c.1061T>C(p.Leu354Pro) in the PORCN Gene: Importance of Early Diagnosis and Multidisciplinary Follow-Up. ( 26470739 )
2015
22
Severe abdominal wall defect leading to dehiscence in focal dermal hypoplasia (Goltz syndrome). ( 25751343 )
2015
23
Blaschko Linear Enamel Defects - A Marker for Focal Dermal Hypoplasia: Case Report of Focal Dermal Hypoplasia. ( 26078738 )
2015
24
Focal dermal hypoplasia: a rare case report. ( 25657436 )
2015
25
Focal dermal hypoplasia: updates. ( 23463902 )
2014
26
Ophthalmologic findings in an 18-month-old boy with focal dermal hypoplasia. ( 24698628 )
2014
27
Focal Dermal Hypoplasia: Report of a Case with Myelomeningocele, Arnold-Chiari Malformation and Hydrocephalus with a Review of Neurologic Manifestations of Goltz Syndrome. ( 24387693 )
2014
28
Focal dermal hypoplasia (Goltz-Gorlin syndrome): a new case with a novel variant in the PORCN gene (c.1250T>C:p.F417S) and unusual spinal anomaly. ( 23696273 )
2013
29
Zygotic porcn paternal allele deletion in mice to model human focal dermal hypoplasia. ( 24223895 )
2013
30
Focal dermal hypoplasia without focal dermal hypoplasia. ( 24357603 )
2013
31
A case report of focal dermal hypoplasia-Goltz syndrome. ( 23984248 )
2013
32
Focal dermal hypoplasia due to a novel mutation in a boy with Klinefelter syndrome. ( 23131169 )
2013
33
A case of almost unilateral focal dermal hypoplasia resulting from a novel mutation in the PORCN gene. ( 22735390 )
2013
34
Novel and recurrent PORCN gene mutations in almost unilateral and typical focal dermal hypoplasia patients. ( 23399492 )
2013
35
Cutaneous atrophic guttate lesions in a linear and reticulate pattern: a quiz. Diagnosis: Focal dermal hypoplasia (Goltz syndrome). ( 22688728 )
2013
36
Deletion of Porcn in mice leads to multiple developmental defects and models human focal dermal hypoplasia (Goltz syndrome). ( 22412863 )
2012
37
Spontaneous patella fracture presenting as osteomyelitis in focal dermal hypoplasia. ( 22000280 )
2012
38
A novel mutation in the PORCN gene underlying a case of almost unilateral focal dermal hypoplasia. ( 22250236 )
2012
39
Treatment of recalcitrant excessive granulation tissue with photodynamic therapy in an eight-year-old patient with focal dermal hypoplasia syndrome. ( 21995324 )
2012
40
Survival of a male mosaic for PORCN mutation with mild focal dermal hypoplasia phenotype. ( 21133992 )
2011
41
Focal dermal hypoplasia with uterus bicornis and renal ectopia: case report and review of the literature. ( 21941481 )
2011
42
A case of mosaic Goltz syndrome (focal dermal hypoplasia) in a male patient. ( 21332693 )
2011
43
Epilepsy in a patient with focal dermal hypoplasia. ( 21215914 )
2011
44
Esophageal papillomas and skin abnormalities. Focal dermal hypoplasia (Goltz syndrome) manifesting with esophageal papillomatosis. ( 21272558 )
2011
45
Focal dermal hypoplasia: a case report and literature review. ( 21684779 )
2011
46
Focal dermal hypoplasia in a male. ( 25386262 )
2011
47
Deletion of mouse Porcn blocks Wnt ligand secretion and reveals an ectodermal etiology of human focal dermal hypoplasia/Goltz syndrome. ( 21768372 )
2011
48
Focal dermal hypoplasia in a male patient due to mosaicism for a novel PORCN single nucleotide deletion. ( 20626533 )
2011
49
PORCN mutations and variants identified in patients with focal dermal hypoplasia through diagnostic gene sequencing. ( 20854095 )
2010
50
Goltz syndrome (focal dermal hypoplasia) with unilateral ocular, cutaneous and skeletal features: case report. ( 21092077 )
2010

Variations for Focal Dermal Hypoplasia

UniProtKB/Swiss-Prot genetic disease variations for Focal Dermal Hypoplasia:

66 (show all 15)
id Symbol AA change Variation ID SNP ID
1 PORCN p.Gly60Arg VAR_035089 rs267606973
2 PORCN p.Arg365Gly VAR_035090
3 PORCN p.Ser136Phe VAR_058899
4 PORCN p.Gly168Arg VAR_058900
5 PORCN p.Val258Glu VAR_058902
6 PORCN p.His341Leu VAR_058903
7 PORCN p.Arg365Gln VAR_058904
8 PORCN p.Cys385Arg VAR_058905
9 PORCN p.Trp439Arg VAR_058906
10 PORCN p.His252Tyr VAR_065189
11 PORCN p.Ser297Leu VAR_065190
12 PORCN p.Leu331Arg VAR_065191
13 PORCN p.Glu361Val VAR_065192
14 PORCN p.Cys385Tyr VAR_065193
15 PORCN p.Ala374Pro VAR_066061

ClinVar genetic disease variations for Focal Dermal Hypoplasia:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 PORCN NM_203473.2(PORCN): c.222G> A (p.Trp74Ter) single nucleotide variant Pathogenic rs137852219 GRCh37 Chromosome X, 48369768: 48369768
2 PORCN NM_203475.2(PORCN): c.1059_1071dupCCTGGCTTTTATC (p.Thr358Profs) duplication Pathogenic rs587776737 GRCh37 Chromosome X, 48374313: 48374325
3 PORCN NM_203473.2(PORCN): c.178G> A (p.Gly60Arg) single nucleotide variant Pathogenic rs267606973 GRCh37 Chromosome X, 48369724: 48369724
4 PORCN NM_203473.2(PORCN): c.370C> T (p.Arg124Ter) single nucleotide variant Pathogenic rs137852218 GRCh37 Chromosome X, 48370320: 48370320
5 PORCN NM_203473.2(PORCN): c.1094G> A (p.Arg365Gln) single nucleotide variant Pathogenic rs387906723 GRCh37 Chromosome X, 48374470: 48374470
6 PORCN NM_203475.2(PORCN): c.565T> C (p.Trp189Arg) single nucleotide variant Likely pathogenic rs1057519006 GRCh37 Chromosome X, 48370986: 48370986

Copy number variations for Focal Dermal Hypoplasia from CNVD:

7
id CNVD ID Chromosom Start End Type Gene Symbol CNVD Disease
1 263165 X 47300000 49700000 Microdeletions PORCN focal dermal hypoplasia

Expression for Focal Dermal Hypoplasia

Search GEO for disease gene expression data for Focal Dermal Hypoplasia.

Pathways for Focal Dermal Hypoplasia

Pathways related to Focal Dermal Hypoplasia according to GeneCards Suite gene sharing:

id Super pathways Score Top Affiliating Genes
1
Show member pathways
10.36 PORCN WNT3A

GO Terms for Focal Dermal Hypoplasia

Cellular components related to Focal Dermal Hypoplasia according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 endocytic vesicle membrane GO:0030666 8.62 PTCH1 WNT3A

Biological processes related to Focal Dermal Hypoplasia according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 canonical Wnt signaling pathway GO:0060070 9.16 PORCN WNT3A
2 mammary gland development GO:0030879 8.96 PTCH1 WNT3A
3 dorsal/ventral neural tube patterning GO:0021904 8.62 PTCH1 WNT3A

Sources for Focal Dermal Hypoplasia

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
Content
Loading form....