FND1
MCID: FRN036
MIFTS: 43

Frontonasal Dysplasia 1 (FND1)

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

Aliases & Classifications for Frontonasal Dysplasia 1

MalaCards integrated aliases for Frontonasal Dysplasia 1:

Name: Frontonasal Dysplasia 1 57 20 72 29 13 6
Frontonasal Dysplasia 57 73 20 43 58 72 36 70
Frontorhiny 57 20 43 58 72 36
Median Facial Cleft Syndrome 57 20 43
Frontonasal Malformation 57 43 72
Fnd1 57 20 72
Fnd 57 43 72
Fnm 57 43 72
Isolated Median Cleft Face Syndrome 20 58
Alx3-Related Frontonasal Dysplasia 20 58
Frontonasal Dysplasia Sequence 43 70
Frontonasal Dysplasia Type 1 20 58
Median Cleft Face Syndrome 20 58
Median Cleft Syndrome 20 72
Midline Facial Cleft 58 29
Tessier Number 0-14 and 30 Facial Cleft 58
Isolated Median Cleft Syndrome 20
Frontonasal Malformation; Fnm 57
Dysplasia, Frontonasal, Type 39
Frontonasal Dysplasia; Fnd 57
Median Facial Cleft 58

Characteristics:

Orphanet epidemiological data:

58
median facial cleft
Age of onset: Antenatal,Neonatal; Age of death: normal life expectancy;
frontonasal dysplasia
Inheritance: Not applicable; Age of onset: Antenatal,Neonatal; Age of death: normal life expectancy;
frontorhiny
Inheritance: Autosomal recessive; Age of onset: Neonatal;

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal recessive

Miscellaneous:
majority of patients have normal intelligence


HPO:

31
frontonasal dysplasia 1:
Inheritance autosomal recessive inheritance sporadic


Classifications:

Orphanet: 58  
Rare bone diseases
Developmental anomalies during embryogenesis


Summaries for Frontonasal Dysplasia 1

MedlinePlus Genetics : 43 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.Other features of frontonasal dysplasia can include additional facial malformations, absence or malformation of the tissue that connects the left and right halves of the brain (the corpus callosum), and intellectual disability.There are at least three types of frontonasal dysplasia that are distinguished by their genetic causes and their signs and symptoms. In addition to the features previously described, each type of frontonasal dysplasia is associated with other distinctive features. Individuals with frontonasal dysplasia type 1 typically have abnormalities of the nose, a long area between the nose and upper lip (philtrum), and droopy upper eyelids (ptosis). Individuals with frontonasal dysplasia type 2 can have hair loss (alopecia) and an enlarged opening in the two bones that make up much of the top and sides of the skull (enlarged parietal foramina). Males with this form of the condition often have genital abnormalities. Features of frontonasal dysplasia type 3 include eyes that are missing (anophthalmia) or very small (microphthalmia) and low-set ears that are rotated backward. Frontonasal dysplasia type 3 is typically associated with the most severe facial abnormalities, but the severity of the condition varies widely, even among individuals with the same type.Life expectancy of affected individuals depends on the severity of the malformations and whether or not surgical intervention can improve associated health problems, such as breathing and feeding problems caused by the facial clefts.

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, tongue and bone, and related phenotypes are hypertelorism and widow's peak

GARD : 20 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.

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) (Updated 05-Apr-2021)

KEGG : 36 Frontonasal dysplasia is a rare developmental field defect with separation or clefting of the central portion of the face. Its basic characteristics include hypertelorism, a broad nose, or complete midline splitting of the nose.

UniProtKB/Swiss-Prot : 72 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 : 73 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 153)
# Related Disease Score Top Affiliating Genes
1 frontonasal dysplasia 3 11.8
2 frontonasal dysplasia 2 11.8
3 oculoauriculofrontonasal syndrome 11.3
4 cleft, median, of upper lip with polyps of facial skin and nasal mucosa 11.3
5 frontonasal dysplasia with alar clefts 11.2
6 sener syndrome 11.2
7 craniofrontonasal syndrome 11.2
8 frontonasal dysplasia phocomelic upper limbs 11.1
9 frontonasal dysplasia acromelic 11.1
10 frontonasal dysplasia klippel feil syndrome 11.1
11 bifid nose 11.1
12 six2-related frontonasal dysplasia 11.1
13 frontonasal dysplasia-bifid nose-upper limb anomalies syndrome 11.1
14 frontofacionasal dysplasia 11.0
15 parietal foramina 2 11.0
16 conversion disorder 11.0
17 dissociative seizures 11.0
18 acromelic frontonasal dysostosis 11.0
19 encephalocele 10.4
20 cleft lip 10.3
21 facial cleft 10.2
22 basal encephalocele 10.2
23 septooptic dysplasia 10.2
24 cleft palate, isolated 10.2
25 lipomatosis, multiple 10.2
26 polydactyly 10.2
27 pleomorphic lipoma 10.2
28 craniosynostosis 10.2
29 telecanthus 10.1
30 widow's peak 10.1
31 baraitser-winter syndrome 1 10.1
32 macrostomia, isolated 10.1
33 microphthalmia 10.1
34 meningocele 10.1
35 dysostosis 10.1
36 corpus callosum lipoma 10.1
37 alopecia 10.1
38 cleft lip/palate 10.1
39 lymphoma 10.1
40 hypertelorism 10.1
41 ptosis 10.1
42 coloboma of macula 10.1
43 hair whorl 10.1
44 retinal detachment 10.1
45 smith-lemli-opitz syndrome 10.1
46 opitz gbbb syndrome, type i 10.1
47 mental retardation, x-linked, with or without seizures, arx-related 10.1
48 developmental and epileptic encephalopathy 1 10.1
49 partington x-linked mental retardation syndrome 10.1
50 otopalatodigital syndrome, type i 10.1

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



Diseases related to Frontonasal Dysplasia 1

Symptoms & Phenotypes for Frontonasal Dysplasia 1

Human phenotypes related to Frontonasal Dysplasia 1:

58 31 (show top 50) (show all 62)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hypertelorism 58 31 hallmark (90%) Frequent (79-30%) HP:0000316
2 widow's peak 58 31 hallmark (90%) Frequent (79-30%) HP:0000349
3 wide nasal bridge 31 hallmark (90%) HP:0000431
4 scoliosis 58 31 frequent (33%) Frequent (79-30%) HP:0002650
5 ptosis 58 31 frequent (33%) Frequent (79-30%) HP:0000508
6 cataract 58 31 frequent (33%) Frequent (79-30%) HP:0000518
7 strabismus 58 31 frequent (33%) Frequent (79-30%) HP:0000486
8 cleft palate 58 31 occasional (7.5%) Frequent (79-30%) HP:0000175
9 epicanthus 58 31 frequent (33%) Frequent (79-30%) HP:0000286
10 hypoplasia of the maxilla 58 31 frequent (33%) Frequent (79-30%) HP:0000327
11 brachydactyly 58 31 frequent (33%) Frequent (79-30%) HP:0001156
12 iris coloboma 58 31 frequent (33%) Frequent (79-30%) HP:0000612
13 low-set, posteriorly rotated ears 58 31 occasional (7.5%) Frequent (79-30%) HP:0000368
14 microphthalmia 58 31 frequent (33%) Frequent (79-30%) HP:0000568
15 preauricular skin tag 58 31 occasional (7.5%) Frequent (79-30%) HP:0000384
16 camptodactyly of finger 58 31 occasional (7.5%) Frequent (79-30%) HP:0100490
17 aplasia/hypoplasia of the corpus callosum 58 31 occasional (7.5%) Frequent (79-30%) HP:0007370
18 hypoplastic frontal sinuses 58 31 frequent (33%) Frequent (79-30%) HP:0002738
19 midline nasal groove 58 31 frequent (33%) Frequent (79-30%) HP:0004112
20 bifid tongue 58 31 frequent (33%) Frequent (79-30%) HP:0010297
21 dermoid cyst 58 31 frequent (33%) Frequent (79-30%) HP:0025247
22 finger clinodactyly 58 31 frequent (33%) Frequent (79-30%) HP:0040019
23 lumbar hyperlordosis 58 31 frequent (33%) Frequent (79-30%) HP:0002938
24 lipoma of corpus callosum 58 31 frequent (33%) Frequent (79-30%) HP:0006931
25 cranium bifidum occultum 58 31 frequent (33%) Frequent (79-30%) HP:0004423
26 congenital conductive hearing impairment 58 31 frequent (33%) Frequent (79-30%) HP:0008591
27 basal encephalocele 58 31 occasional (7.5%) Frequent (79-30%) HP:0011817
28 median cleft lip 31 frequent (33%) HP:0000161
29 bifid nasal tip 31 frequent (33%) HP:0000456
30 diabetes insipidus 58 31 occasional (7.5%) Occasional (29-5%) HP:0000873
31 hypopituitarism 58 31 occasional (7.5%) Occasional (29-5%) HP:0040075
32 intellectual disability 31 occasional (7.5%) HP:0001249
33 hydrocephalus 31 occasional (7.5%) HP:0000238
34 short stature 31 occasional (7.5%) HP:0004322
35 cryptorchidism 31 occasional (7.5%) HP:0000028
36 webbed neck 31 occasional (7.5%) HP:0000465
37 conductive hearing impairment 31 occasional (7.5%) HP:0000405
38 clinodactyly of the 5th finger 31 occasional (7.5%) HP:0004209
39 bilateral single transverse palmar creases 31 occasional (7.5%) HP:0007598
40 choanal atresia 31 occasional (7.5%) HP:0000453
41 holoprosencephaly 31 occasional (7.5%) HP:0001360
42 flat occiput 31 occasional (7.5%) HP:0005469
43 craniosynostosis 31 occasional (7.5%) HP:0001363
44 abnormality of cardiovascular system morphology 31 occasional (7.5%) HP:0030680
45 agenesis of corpus callosum 31 HP:0001274
46 low-set ears 31 HP:0000369
47 tetralogy of fallot 31 HP:0001636
48 postaxial hand polydactyly 31 HP:0001162
49 encephalocele 58 Frequent (79-30%)
50 short columella 31 HP:0002000

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Neurologic Central Nervous System:
agenesis of corpus callosum
lipoma of corpus callosum
anterior basal encephalocele
mental retardation

Skeletal Hands:
brachydactyly
camptodactyly
clinodactyly

Head And Neck Mouth:
median cleft lip
median cleft palate

Head And Neck Face:
widow's peak

Skin Nails Hair Skin:
frontal cutaneous lipoma

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)

Head And Neck Eyes:
ptosis
cataract
hypertelorism
microphthalmia
coloboma
more
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 Ears:
conductive hearing loss
preauricular tag
low-set ear

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

Clinical features from OMIM®:

136760 (Updated 05-Apr-2021)

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
2 Midline Facial Cleft 29

Anatomical Context for Frontonasal Dysplasia 1

MalaCards organs/tissues related to Frontonasal Dysplasia 1:

40
Eye, Tongue, Bone, Brain, Heart, Kidney, Thyroid

Publications for Frontonasal Dysplasia 1

Articles related to Frontonasal Dysplasia 1:

(show top 50) (show all 193)
# Title Authors PMID Year
1
Frontorhiny, a distinctive presentation of frontonasal dysplasia caused by recessive mutations in the ALX3 homeobox gene. 61 57 6
19409524 2009
2
Two siblings with an unusual nasal malformation: further instances of craniorhiny? 6 57
17963218 2007
3
A primary cilia-dependent etiology for midline facial disorders. 61 57
20106874 2010
4
Frontonasal dysplasia, severe neuropsychological delay, and midline central nervous system anomalies: report of 10 Brazilian male patients. 57 61
19365836 2009
5
Subtypes of frontonasal dysplasia are useful in determining clinical prognosis. 57 61
17955515 2007
6
Frontonasal dysplasia, neuronal migration error and lymphoedema of limbs. 57 61
15127764 2004
7
Frontonasal dysostosis in two successive generations. 57 61
10564879 1999
8
Frontonasal dysplasia with optic disc anomalies and other midline craniofacial defects: a report of six cases. 57 61
9689987 1998
9
Midline craniofacial defects and morning glory disc anomaly. A distinct clinical entity. 57 61
8741108 1996
10
Syndromal frontonasal dysostosis in a child with a complex translocation involving chromosomes 3, 7, and 11. 61 57
7762593 1995
11
Frontonasal dysplasia in two successive generations. 57 61
8362915 1993
12
Frontonasal dysplasia, congenital heart defect, and short stature: a further observation. 57 61
2738904 1989
13
Frontonasal malformation as a field defect and in syndromic associations. 61 57
2840620 1988
14
Frontonasal dysplasia associated with tetralogy of Fallot. 57 61
3560167 1987
15
The spectrum of frontonasal dysplasia in an inbred pedigree. 57 61
7363499 1980
16
Frontonasal dysplasia. 61 57
5444583 1970
17
Monozygotic twins discordant for frontonasal malformation. 57
15384079 2004
18
Familial occurrence of a developmental defect of the medial nasal processes. 57
4003439 1985
19
[Physiological euryopia and pathological hypertelorismus ocularis]. 57
13206986 1954
20
Prenatal diagnosis of isolated frontonasal dysplasia: A case report. 61
32374429 2021
21
De novo ZIC2 frameshift variant associated with frontonasal dysplasia in a Limousin calf. 61
33388042 2021
22
Surgical Management of a Mild Case of Frontonasal Dysplasia: A Case Report and Review of Literature. 61
33628686 2021
23
Pai syndrome: a review. 61
32651596 2020
24
ALX1-related frontonasal dysplasia results from defective neural crest cell development and migration. 61
32914578 2020
25
Generation and characterization of Six2 conditional mice. 61
32277572 2020
26
Maternal SLE and brachytelephalangic chondrodysplasia punctata in a patient with unrelated de novo RAF1 and SIX2 variants. 61
32506814 2020
27
50 Years Ago in TheJournalofPediatrics: Understanding the Genetic Basis of Frontonasal Dysplasia. 61
32446495 2020
28
A Novel Missense Variant in the ALX4 Gene Underlies Mild to Severe Frontonasal Dysplasia in a Consanguineous Family. 61
32216639 2020
29
Trio-Based Whole-Exome Sequencing Identifies a De novo EFNB1 Mutation as a Genetic Cause in Female Infant With Brain Anomaly and Developmental Delay. 61
32984200 2020
30
Frontonasal dysplasia: A case report. 61
31914496 2019
31
The relationship between external bony defects and widened lateral interorbital distance in frontoethmoidal encephalomeningocele. 61
31409529 2019
32
Oculo-Auriculo-Fronto-Nasal Syndrome With Duane Retraction Syndrome and Dysplastic Bony Structure in the Midline of Nose. 61
31756883 2019
33
Four novel mutations in EFNB1 in Indian patients with craniofrontonasal syndrome. 61
31285555 2019
34
Crucial and Overlapping Roles of Six1 and Six2 in Craniofacial Development. 61
30905259 2019
35
Costochondral Grafting for Nasal Airway Reconstruction in an Infant With Frontonasal Dysplasia. 61
30475292 2019
36
The oculoauriculofrontonasal syndrome: Further clinical characterization and additional evidence suggesting a nontraditional mode of inheritance. 61
30548201 2018
37
Hydroxyapatite implantation for the repair of a congenital nasal anomaly: 10 years follow-up. 61
29992000 2018
38
Computer-Assisted Surgery in Facial Bipartition Surgery. 61
29353636 2018
39
Identification of a novel homozygous ALX4 mutation in two unrelated patients with frontonasal dysplasia type-2. 61
29681084 2018
40
SIX2 gene haploinsufficiency leads to a recognizable phenotype with ptosis, frontonasal dysplasia, and conductive hearing loss. 61
29315086 2018
41
Clinical delineation of a subtype of frontonasal dysplasia with creased nasal ridge and upper limb anomalies: Report of six unrelated patients. 61
29136349 2017
42
Oculoauriculofrontonasal Dysplasia Syndrome With Additional Clinical Features. 61
27723380 2017
43
Zebrafish zic2 controls formation of periocular neural crest and choroid fissure morphogenesis. 61
28689736 2017
44
Localized TWIST1 and TWIST2 basic domain substitutions cause four distinct human diseases that can be modeled in Caenorhabditis elegans. 61
28369379 2017
45
Tooth Abnormalities and Occlusal Disorders in Individuals With Frontonasal Dysplasia. 61
26882026 2017
46
Ocular Morbidity in the Correction of Orbital Hypertelorism and Dystopia: A 15-Year Experience. 61
28350678 2017
47
Surgical Strategies for Soft Tissue Management in Hypertelorbitism. 61
27740959 2017
48
Frontonasal dysplasia: oral features, restorative and orthodontic dental treatment in a child. 61
28251593 2017
49
Exome sequencing revealed a novel splice site variant in the ALX1 gene underlying frontonasal dysplasia. 61
27324866 2017
50
Loss of ephrinB1 in osteogenic progenitor cells impedes endochondral ossification and compromises bone strength integrity during skeletal development. 61
27622886 2016

Variations for Frontonasal Dysplasia 1

ClinVar genetic disease variations for Frontonasal Dysplasia 1:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 ALX3 NM_006492.3(ALX3):c.574_577CTGA[1] (p.Thr193fs) Microsatellite Pathogenic 4647 rs387906319 GRCh37: 1:110607222-110607225
GRCh38: 1:110064600-110064603
2 ALX3 NM_006492.3(ALX3):c.586C>T (p.Arg196Trp) SNV Pathogenic 4648 rs121908170 GRCh37: 1:110607217-110607217
GRCh38: 1:110064595-110064595
3 ALX3 NM_006492.3(ALX3):c.543T>A (p.Tyr181Ter) SNV Pathogenic 4646 rs121908169 GRCh37: 1:110607260-110607260
GRCh38: 1:110064638-110064638
4 ALX3 NM_006492.3(ALX3):c.547C>T (p.Arg183Trp) SNV Pathogenic 4645 rs121908168 GRCh37: 1:110607256-110607256
GRCh38: 1:110064634-110064634
5 ALX3 NM_006492.3(ALX3):c.502C>G (p.Leu168Val) SNV Pathogenic 4644 rs121908167 GRCh37: 1:110607301-110607301
GRCh38: 1:110064679-110064679
6 ALX3 NM_006492.3(ALX3):c.608A>G (p.Asn203Ser) SNV Pathogenic 4643 rs121908166 GRCh37: 1:110604172-110604172
GRCh38: 1:110061550-110061550
7 ALX3 NM_006492.3(ALX3):c.595-2A>T SNV Pathogenic 4642 rs1570936479 GRCh37: 1:110604187-110604187
GRCh38: 1:110061565-110061565
8 ALX3 NM_006492.3(ALX3):c.736_737del (p.Leu246fs) Deletion Likely pathogenic 559851 rs1553196068 GRCh37: 1:110603650-110603651
GRCh38: 1:110061028-110061029

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

72
# 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

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

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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