FND1
MCID: FRN036
MIFTS: 42

Frontonasal Dysplasia 1 (FND1)

Categories: Bone diseases, Eye diseases, Fetal diseases, Genetic diseases, Neuronal diseases, Rare diseases, Skin diseases, Smell/Taste diseases

Aliases & Classifications for Frontonasal Dysplasia 1

MalaCards integrated aliases for Frontonasal Dysplasia 1:

Name: Frontonasal Dysplasia 1 57 53 75 29 13 6
Frontonasal Dysplasia 57 76 53 25 75 37 73
Frontorhiny 57 53 25 59 75 37
Median Facial Cleft Syndrome 57 53 25
Frontonasal Malformation 57 25 75
Fnd1 57 53 75
Fnd 57 25 75
Fnm 57 25 75
Isolated Median Cleft Face Syndrome 53 59
Alx3-Related Frontonasal Dysplasia 53 59
Frontonasal Dysplasia Sequence 25 73
Frontonasal Dysplasia Type 1 53 59
Median Cleft Syndrome 53 75
Isolated Median Cleft Syndrome 53
Frontonasal Malformation; Fnm 57
Dysplasia, Frontonasal, Type 40
Frontonasal Dysplasia; Fnd 57
Median Cleft Face Syndrome 53

Characteristics:

Orphanet epidemiological data:

59
frontorhiny
Inheritance: Autosomal recessive; Age of onset: Neonatal;

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
majority of patients have normal intelligence


HPO:

32
frontonasal dysplasia 1:
Inheritance autosomal recessive inheritance sporadic


Classifications:



Summaries for Frontonasal Dysplasia 1

NIH Rare Diseases : 53 Frontonasal dysplasia is a rare disease that results from abnormal development of the head and face before birth. Symptoms often vary, however more common symptoms include wide spaced eyes, a widow's peak, and a broad nose. Less common features include eye abnormalities, missing the connection between the two halves of the brain (agenesis of the corpus callosum), hearing loss, and undescended testicles in males (cryptorchidism). Most people with the dysplasia have normal intelligence. There are three main types of frontonasal dysplasia that are distinguished by their genetic causes and symptoms. Other frontonasal dysplasia syndromes have also been described. Frontonasal dysplasia is very rare, with around 100 cases reported in the literature. Type 1 frontonasal dysplasia is caused by mutations (changes) in the ALX3 gene, type 2 is caused by mutations in the ALX4 gene, and type 3 is caused by mutations in the ALX1 gene. Type 1 and type 3 frontonasal dysplasia are inherited in an autosomal recessive manner, whereas frontonasal dysplasia type 2 is inherited in an autosomal dominant manner. Diagnosis is often first suspected when a baby has features consistent with frontonasal dysplasia. X-rays and genetic testing may be used to confirm the diagnosis. Treatment of the disease may include one or more surgeries to correct certain birth defects, as well as early intervention and special education services, if needed.

MalaCards based summary : Frontonasal Dysplasia 1, also known as frontonasal dysplasia, is related to frontonasal dysplasia 3 and frontonasal dysplasia 2. An important gene associated with Frontonasal Dysplasia 1 is ALX3 (ALX Homeobox 3). Affiliated tissues include eye, brain and bone, and related phenotypes are hypertelorism and ptosis

Genetics Home Reference : 25 Frontonasal dysplasia is a condition that results from abnormal development of the head and face before birth. People with frontonasal dysplasia have at least two of the following features: widely spaced eyes (ocular hypertelorism); a broad nose; a slit (cleft) in one or both sides of the nose; no nasal tip; a central cleft involving the nose, upper lip, or roof of the mouth (palate); incomplete formation of the front of the skull with skin covering the head where bone should be (anterior cranium bifidum occultum); or a widow's peak hairline.

OMIM : 57 The term frontonasal dysplasia was coined by Sedano et al. (1970) to describe a constellation of findings limited to the face and head. The disorder is defined as 2 or more of the following: (1) true ocular hypertelorism; (2) broadening of the nasal root; (3) median facial cleft affecting the nose and/or upper lip and palate; (4) unilateral or bilateral clefting of the alae nasi; (5) lack of formation of the nasal tip; (6) anterior cranium bifidum occultum (see 168500); and (7) a V-shaped or widow's peak frontal hairline (Sedano and Gorlin, 1988). Most reported cases are sporadic, but a few familial cases have been reported. Twigg et al. (2009) characterized frontonasal malformation (FNM) as a 'very heterogeneous group of disorders' and summarized clinical features. Also see acromelic frontonasal dysplasia (AFND; 603671), frontofacionasal dysplasia (FFND; 229400), oculoauriculofrontonasal syndrome (OAFNS; 601452), the acrofrontofacionasal dysostosis syndromes (201180, 239710), and craniofrontonasal syndrome (304110). (136760)

UniProtKB/Swiss-Prot : 75 Frontonasal dysplasia 1: The term frontonasal dysplasia describes an array of abnormalities affecting the eyes, forehead and nose and linked to midfacial dysraphia. The clinical picture is highly variable. Major findings include true ocular hypertelorism; broadening of the nasal root; median facial cleft affecting the nose and/or upper lip and palate; unilateral or bilateral clefting of the alae nasi; lack of formation of the nasal tip; anterior cranium bifidum occultum; a V-shaped or widow's peak frontal hairline.

Wikipedia : 76 Frontonasal dysplasia (FND) is a congenital malformation of the midface. For the diagnosis of FND, a... more...

Related Diseases for Frontonasal Dysplasia 1

Diseases in the Frontonasal Dysplasia 1 family:

Frontonasal Dysplasia 2 Frontonasal Dysplasia 3
Six2-Related Frontonasal Dysplasia

Diseases related to Frontonasal Dysplasia 1 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 62)
# Related Disease Score Top Affiliating Genes
1 frontonasal dysplasia 3 12.6
2 frontonasal dysplasia 2 12.5
3 frontonasal dysplasia-severe microphthalmia-severe facial clefting syndrome 12.4
4 frontonasal dysplasia with alopecia and genital anomaly 12.3
5 frontonasal dysplasia with alar clefts 12.3
6 frontonasal dysplasia phocomelic upper limbs 12.2
7 frontonasal dysplasia acromelic 12.1
8 frontonasal dysplasia klippel feil syndrome 12.1
9 six2-related frontonasal dysplasia 12.1
10 frontonasal dysplasia-bifid nose-upper limb anomalies syndrome 12.1
11 craniofrontonasal syndrome 11.6
12 sener syndrome 11.6
13 bifid nose 11.5
14 cleft, median, of upper lip with polyps of facial skin and nasal mucosa 11.3
15 frontofacionasal dysplasia 11.1
16 parietal foramina 2 11.1
17 acromelic frontonasal dysostosis 11.1
18 conversion disorder 11.1
19 encephalocele 10.3
20 septooptic dysplasia 10.1
21 hypertelorism 10.1
22 tetralogy of fallot 10.1
23 craniosynostosis 10.1
24 basal encephalocele 10.1
25 leukemia, acute myeloid 10.0
26 follicular lymphoma 10.0
27 leukemia 10.0
28 lymphoma 10.0
29 myeloid leukemia 10.0
30 smith-lemli-opitz syndrome 10.0
31 opitz gbbb syndrome, type i 10.0
32 chromosome 16p13.3 deletion syndrome, proximal 10.0
33 alar cleft, isolated 10.0
34 hyperprolactinemia 10.0
35 hydrocephalus 10.0
36 isolated growth hormone deficiency 10.0
37 growth hormone deficiency 10.0
38 fryns microphthalmia syndrome 10.0
39 acrocallosal syndrome 10.0
40 polydactyly 10.0
41 choanal atresia, posterior 10.0
42 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.0
43 holoprosencephaly 10.0
44 periventricular nodular heterotopia 10.0
45 ptosis 10.0
46 acrofacial dysostosis 10.0
47 renal hypoplasia 10.0
48 klippel-feil syndrome 10.0
49 microphthalmia 10.0
50 meningocele 10.0

Graphical network of the top 20 diseases related to Frontonasal Dysplasia 1:



Diseases related to Frontonasal Dysplasia 1

Symptoms & Phenotypes for Frontonasal Dysplasia 1

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Eyes:
hypertelorism
ptosis
cataract
microphthalmia
coloboma
more
Skeletal Hands:
clinodactyly
brachydactyly
camptodactyly

Head And Neck Mouth:
median cleft lip
median cleft palate

Head And Neck Face:
widow's peak

Head And Neck Ears:
conductive hearing loss
preauricular tag
low-set ear

Head And Neck Head:
cranium bifidum occultum (defect in midline frontal bone)

Skin Nails Hair Skin:
frontal cutaneous lipoma

Neurologic Central Nervous System:
agenesis of corpus callosum
lipoma of corpus callosum
mental retardation
anterior basal encephalocele

Cardiovascular Heart:
tetralogy of fallot

Skeletal Skull:
hypoplastic frontal sinuses
cranium bifidum occultum
maxillary hypoplasia

Skin Nails Hair Hair:
widow's peak

Head And Neck Nose:
broad nasal root
variable bifid nose
broad notched nasal tip
accessory nasal tag
notched alae nasi

Chest External Features:
pectoral muscle hypoplasia/aplasia (poland syndrome)


Clinical features from OMIM:

136760

Human phenotypes related to Frontonasal Dysplasia 1:

59 32 (show top 50) (show all 62)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hypertelorism 59 32 hallmark (90%) Frequent (79-30%) HP:0000316
2 ptosis 59 32 frequent (33%) Frequent (79-30%) HP:0000508
3 scoliosis 59 32 frequent (33%) Frequent (79-30%) HP:0002650
4 cataract 59 32 frequent (33%) Frequent (79-30%) HP:0000518
5 cleft palate 59 32 occasional (7.5%) Frequent (79-30%) HP:0000175
6 strabismus 59 32 frequent (33%) Frequent (79-30%) HP:0000486
7 epicanthus 59 32 frequent (33%) Frequent (79-30%) HP:0000286
8 microphthalmia 59 32 frequent (33%) Frequent (79-30%) HP:0000568
9 diabetes insipidus 59 32 occasional (7.5%) Occasional (29-5%) HP:0000873
10 hypoplasia of the maxilla 59 32 frequent (33%) Frequent (79-30%) HP:0000327
11 low-set, posteriorly rotated ears 59 32 occasional (7.5%) Frequent (79-30%) HP:0000368
12 brachydactyly 59 32 frequent (33%) Frequent (79-30%) HP:0001156
13 iris coloboma 59 32 frequent (33%) Frequent (79-30%) HP:0000612
14 preauricular skin tag 59 32 occasional (7.5%) Frequent (79-30%) HP:0000384
15 camptodactyly of finger 59 32 occasional (7.5%) Frequent (79-30%) HP:0100490
16 aplasia/hypoplasia of the corpus callosum 59 32 occasional (7.5%) Frequent (79-30%) HP:0007370
17 finger clinodactyly 59 32 frequent (33%) Frequent (79-30%) HP:0040019
18 hypoplastic frontal sinuses 59 32 frequent (33%) Frequent (79-30%) HP:0002738
19 lumbar hyperlordosis 59 32 frequent (33%) Frequent (79-30%) HP:0002938
20 bifid tongue 59 32 frequent (33%) Frequent (79-30%) HP:0010297
21 hypopituitarism 59 32 occasional (7.5%) Occasional (29-5%) HP:0040075
22 widow's peak 59 32 hallmark (90%) Frequent (79-30%) HP:0000349
23 midline nasal groove 59 32 frequent (33%) Frequent (79-30%) HP:0004112
24 cranium bifidum occultum 59 32 frequent (33%) Frequent (79-30%) HP:0004423
25 dermoid cyst 59 32 frequent (33%) Frequent (79-30%) HP:0025247
26 lipoma of corpus callosum 59 32 frequent (33%) Frequent (79-30%) HP:0006931
27 congenital conductive hearing impairment 59 32 frequent (33%) Frequent (79-30%) HP:0008591
28 basal encephalocele 59 32 occasional (7.5%) Frequent (79-30%) HP:0011817
29 low-set ears 32 HP:0000369
30 agenesis of corpus callosum 32 HP:0001274
31 clinodactyly 32 HP:0030084
32 hydrocephalus 32 occasional (7.5%) HP:0000238
33 intellectual disability 32 occasional (7.5%) HP:0001249
34 wide nasal bridge 32 hallmark (90%) HP:0000431
35 short stature 32 occasional (7.5%) HP:0004322
36 cryptorchidism 32 occasional (7.5%) HP:0000028
37 webbed neck 32 occasional (7.5%) HP:0000465
38 clinodactyly of the 5th finger 32 occasional (7.5%) HP:0004209
39 conductive hearing impairment 32 occasional (7.5%) HP:0000405
40 bilateral single transverse palmar creases 32 occasional (7.5%) HP:0007598
41 broad nasal tip 32 HP:0000455
42 tetralogy of fallot 32 HP:0001636
43 choanal atresia 32 occasional (7.5%) HP:0000453
44 flat occiput 32 occasional (7.5%) HP:0005469
45 craniosynostosis 32 occasional (7.5%) HP:0001363
46 holoprosencephaly 32 occasional (7.5%) HP:0001360
47 postaxial hand polydactyly 32 HP:0001162
48 encephalocele 59 Frequent (79-30%)
49 abnormality of cardiovascular system morphology 32 occasional (7.5%) HP:0030680
50 median cleft lip 32 frequent (33%) HP:0000161

Drugs & Therapeutics for Frontonasal Dysplasia 1

Search Clinical Trials , NIH Clinical Center for Frontonasal Dysplasia 1

Genetic Tests for Frontonasal Dysplasia 1

Genetic tests related to Frontonasal Dysplasia 1:

# Genetic test Affiliating Genes
1 Frontonasal Dysplasia 1 29 ALX3

Anatomical Context for Frontonasal Dysplasia 1

MalaCards organs/tissues related to Frontonasal Dysplasia 1:

41
Eye, Brain, Bone, Skin, Testes, Heart, Myeloid

Publications for Frontonasal Dysplasia 1

Articles related to Frontonasal Dysplasia 1:

(show top 50) (show all 82)
# Title Authors Year
1
SIX2 gene haploinsufficiency leads to a recognizable phenotype with ptosis, frontonasal dysplasia, and conductive hearing loss. ( 29315086 )
2018
2
Identification of a novel homozygous ALX4 mutation in two unrelated patients with frontonasal dysplasia type-2. ( 29681084 )
2018
3
Costochondral Grafting for Nasal Airway Reconstruction in an Infant With Frontonasal Dysplasia. ( 30475292 )
2018
4
Exome sequencing revealed a novel splice site variant in the ALX1 gene underlying frontonasal dysplasia. ( 27324866 )
2017
5
Tooth Abnormalities and Occlusal Disorders in Individuals With Frontonasal Dysplasia. ( 26882026 )
2017
6
Frontonasal dysplasia: oral features, restorative and orthodontic dental treatment in a child. ( 28251593 )
2017
7
Clinical delineation of a subtype of frontonasal dysplasia with creased nasal ridge and upper limb anomalies: Report of six unrelated patients. ( 29136349 )
2017
8
INTERMITTENT EXOTROPIA COURSE IN FRONTONASAL DYSPLASIA AND SEVERE ORBITAL HYPERTELORISM: CASE REPORT. ( 29693854 )
2016
9
A new frontonasal dysplasia syndrome associated with deletion of the SIX2 gene. ( 26581443 )
2016
10
Aristaless-Like Homeobox protein 1 (ALX1) variant associated with craniofacial structure and frontonasal dysplasia in Burmese cats. ( 26610632 )
2016
11
Ocular Manifestations of Frontonasal Dysplasia. ( 26730857 )
2016
12
Frontonasal Dysplasia: Towards an Understanding of Molecular and Developmental Aetiology. ( 27920634 )
2016
13
Novel homozygous ALX4 mutation causing frontonasal dysplasia-2 in a patient with meningoencephalocele. ( 25963140 )
2015
14
Nasal Reconstruction of a Frontonasal Dysplasia Deformity Using Aesthetic Rhinoplasty Techniques. ( 26430640 )
2015
15
Potocki-shaffer deletion encompassing ALX4 in a patient with frontonasal dysplasia phenotype. ( 24376213 )
2014
16
Frontonasal dysplasia with severe occipital lobe hypoplasia. ( 24756851 )
2014
17
Neurological picture. Bitemporal hemianopsia in frontonasal dysplasia, callosal agenesis, basal meningocele and eye abnormalities. ( 23475785 )
2013
18
Prenatal diagnosis of frontonasal dysplasia with anterior encephalocele. ( 24592072 )
2013
19
Prenatal Diagnosis of Frontonasal Dysplasia Associated With Bilateral Periventricular Nodular Heterotopia. ( 24196422 )
2013
20
Bifid nose - a mild degree of frontonasal dysplasia. A case report. ( 23810549 )
2013
21
Defective neural crest migration revealed by a Zebrafish model of Alx1-related frontonasal dysplasia. ( 23059813 )
2013
22
Craniofacial features resembling frontonasal dysplasia with a tubulonodular interhemispheric lipoma in the adult 3H1 tuft mouse. ( 22246904 )
2012
23
Frontonasal dysplasia (Median cleft face syndrome). ( 22346197 )
2012
24
Frontonasal dysplasia, callosal agenesis, basal encephalocele, and eye anomalies syndrome with a partial 21q22.3 deletion. ( 22628242 )
2012
25
Frontonasal dysplasia: clinical evaluation on audiological and brainstem electrophysiological profiles. ( 22030970 )
2011
26
Salvage of calvarial bone graft using acellular dermal matrix in nasal reconstruction and secondary rhinoplasty for frontonasal dysplasia. ( 21772175 )
2011
27
A case report of frontonasal dysplasia. ( 20044145 )
2010
28
Disruption of ALX1 causes extreme microphthalmia and severe facial clefting: expanding the spectrum of autosomal-recessive ALX-related frontonasal dysplasia. ( 20451171 )
2010
29
Frontonasal dysplasia: a family presenting autosomal dominant inheritance pattern. ( 19400543 )
2009
30
Frontorhiny, a distinctive presentation of frontonasal dysplasia caused by recessive mutations in the ALX3 homeobox gene. ( 19409524 )
2009
31
Frontonasal dysplasia, severe neuropsychological delay, and midline central nervous system anomalies: report of 10 Brazilian male patients. ( 19365836 )
2009
32
Prenatal diagnosis of frontonasal dysplasia using 3D ultrasound. ( 18973154 )
2008
33
Mandibulofacial dysostosis, acral anomalies and frontonasal dysplasia: a new form of acrofacial dysostosis. ( 18388791 )
2008
34
Misexpression of Six2 is associated with heritable frontonasal dysplasia and renal hypoplasia in 3H1 Br mice. ( 18570229 )
2008
35
Subtypes of frontonasal dysplasia are useful in determining clinical prognosis. ( 17955515 )
2007
36
Frontonasal dysplasia. ( 16213944 )
2005
37
The Syndrome of Frontonasal Dysplasia, Callosal Agenesis, Basal Encephalocele, and Eye Anomalies - Phenotypic and Aetiological Considerations. ( 15912188 )
2004
38
Frontonasal dysplasia, neuronal migration error and lymphoedema of limbs. ( 15127764 )
2004
39
Angular analysis of corpus callosum in 18 patients with frontonasal dysplasia. ( 15235716 )
2004
40
Frontonasal dysplasia in 3H1 Br/Br mice. ( 12629672 )
2003
41
Frontonasal dysplasia, Poland anomaly and unilateral hypoplasia of lower limb: report on a male patient. ( 14564209 )
2003
42
A mild case of frontonasal dysplasia: the rhinologic perspective. ( 12127227 )
2002
43
Prenatal ultrasound diagnosis of frontonasal dysplasia. ( 12001190 )
2002
44
Multiple pericallosal lipomas in two siblings with frontonasal dysplasia. ( 11950677 )
2002
45
Hair follicle nevus occurring in frontonasal dysplasia: an electron microscopic observation. ( 11476112 )
2001
46
Frontonasal dysplasia, macroblepharon, eyelid colobomas, ear anomalies, macrostomia, mental retardation and CNS structural anomalies: defining the phenotype. ( 11311001 )
2001
47
Frontonasal dysplasia, macroblepharon, eyelid colobomas, ear anomalies, macrostomia, mental retardation, and CNS structural anomalies: another observation. ( 10649800 )
2000
48
Two further cases of Sener syndrome: frontonasal dysplasia and dilated Virchow-Robin spaces. ( 10928859 )
2000
49
The syndrome of frontonasal dysplasia, spastic paraplegia, mental retardation and blindness: a case report with CT scan findings and review of literature. ( 10960697 )
2000
50
A female patient with frontonasal dysplasia sequence and frontonasal encephalocele. ( 10517481 )
1999

Variations for Frontonasal Dysplasia 1

UniProtKB/Swiss-Prot genetic disease variations for Frontonasal Dysplasia 1:

75
# Symbol AA change Variation ID SNP ID
1 ALX3 p.Leu168Val VAR_063226 rs121908167
2 ALX3 p.Arg183Trp VAR_063227 rs121908168
3 ALX3 p.Arg196Trp VAR_063228 rs121908170
4 ALX3 p.Asn203Ser VAR_063229 rs121908166

ClinVar genetic disease variations for Frontonasal Dysplasia 1:

6 (show all 15)
# Gene Variation Type Significance SNP ID Assembly Location
1 ALX3 ALX3, IVS2AS, A-T, -2 single nucleotide variant Pathogenic
2 ALX3 NM_006492.2(ALX3): c.608A> G (p.Asn203Ser) single nucleotide variant Pathogenic rs121908166 GRCh37 Chromosome 1, 110604172: 110604172
3 ALX3 NM_006492.2(ALX3): c.608A> G (p.Asn203Ser) single nucleotide variant Pathogenic rs121908166 GRCh38 Chromosome 1, 110061550: 110061550
4 ALX3 NM_006492.2(ALX3): c.502C> G (p.Leu168Val) single nucleotide variant Pathogenic rs121908167 GRCh37 Chromosome 1, 110607301: 110607301
5 ALX3 NM_006492.2(ALX3): c.502C> G (p.Leu168Val) single nucleotide variant Pathogenic rs121908167 GRCh38 Chromosome 1, 110064679: 110064679
6 ALX3 NM_006492.2(ALX3): c.547C> T (p.Arg183Trp) single nucleotide variant Pathogenic rs121908168 GRCh37 Chromosome 1, 110607256: 110607256
7 ALX3 NM_006492.2(ALX3): c.547C> T (p.Arg183Trp) single nucleotide variant Pathogenic rs121908168 GRCh38 Chromosome 1, 110064634: 110064634
8 ALX3 NM_006492.2(ALX3): c.543T> A (p.Tyr181Ter) single nucleotide variant Pathogenic rs121908169 GRCh37 Chromosome 1, 110607260: 110607260
9 ALX3 NM_006492.2(ALX3): c.543T> A (p.Tyr181Ter) single nucleotide variant Pathogenic rs121908169 GRCh38 Chromosome 1, 110064638: 110064638
10 ALX3 NM_006492.2(ALX3): c.578_581delCTGA (p.Thr193Argfs) deletion Pathogenic rs387906319 GRCh37 Chromosome 1, 110607222: 110607225
11 ALX3 NM_006492.2(ALX3): c.578_581delCTGA (p.Thr193Argfs) deletion Pathogenic rs387906319 GRCh38 Chromosome 1, 110064600: 110064603
12 ALX3 NM_006492.2(ALX3): c.586C> T (p.Arg196Trp) single nucleotide variant Pathogenic rs121908170 GRCh37 Chromosome 1, 110607217: 110607217
13 ALX3 NM_006492.2(ALX3): c.586C> T (p.Arg196Trp) single nucleotide variant Pathogenic rs121908170 GRCh38 Chromosome 1, 110064595: 110064595
14 ALX3 NM_006492.3(ALX3): c.736_737del (p.Leu246Valfs) deletion Likely pathogenic GRCh38 Chromosome 1, 110061028: 110061029
15 ALX3 NM_006492.3(ALX3): c.736_737del (p.Leu246Valfs) deletion Likely pathogenic GRCh37 Chromosome 1, 110603650: 110603651

Expression for Frontonasal Dysplasia 1

Search GEO for disease gene expression data for Frontonasal Dysplasia 1.

Pathways for Frontonasal Dysplasia 1

GO Terms for Frontonasal Dysplasia 1

Sources for Frontonasal Dysplasia 1

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