FMD1
MCID: FRN049
MIFTS: 40

Frontometaphyseal Dysplasia 1 (FMD1)

Categories: Bone diseases, Ear diseases, Fetal diseases, Genetic diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Frontometaphyseal Dysplasia 1

MalaCards integrated aliases for Frontometaphyseal Dysplasia 1:

Name: Frontometaphyseal Dysplasia 1 56 12 73 29 6 15
Fmd1 56 12 73
Fmd 56 73

Characteristics:

OMIM:

56
Inheritance:
x-linked recessive

Miscellaneous:
otopalatodigital syndrome type ii (opd2, ) is an allelic disorder
melnick-needles syndrome (mns, ) is an allelic disorder
periventricular heterotopia is an allelic disorder
variable expression in females otopalatodigital syndrome type i (opd1, ) is an allelic disorder


HPO:

31
frontometaphyseal dysplasia 1:
Inheritance x-linked recessive inheritance


Classifications:



Summaries for Frontometaphyseal Dysplasia 1

OMIM : 56 Frontometaphyseal dysplasia-1 is 1 of 4 otopalatodigital syndromes caused by mutations in the FLNA gene. The disorders, which include otopalatodigital syndrome-1 (OPD1; 311300), otopalatodigital syndrome-2 (OPD2; 304120), and Melnick-Needles syndrome (MNS; 309350), constitute a phenotypic spectrum. At the mild end of the spectrum, males with OPD1 have cleft palate and mild skeletal anomalies with conductive deafness caused by ossicular anomalies. FMD1 is characterized by a generalized skeletal dysplasia, deafness, and urogenital defects. Males with OPD2 have disabling skeletal anomalies in addition to variable malformations in the hindbrain, heart, intestines, and kidneys that frequently lead to perinatal death. The most severe phenotype, MNS, is characterized by a skeletal dysplasia in the heterozygote. Affected males exhibit severe malformations similar to those observed in individuals with OPD2, resulting in prenatal lethality or death in the first few months of life (review by Robertson, 2005). Verloes et al. (2000) suggested that these disorders constitute a single entity, which they termed 'frontootopalatodigital osteodysplasia.' (305620)

MalaCards based summary : Frontometaphyseal Dysplasia 1, also known as fmd1, is related to frontometaphyseal dysplasia and melnick-needles syndrome. An important gene associated with Frontometaphyseal Dysplasia 1 is FLNA (Filamin A). Affiliated tissues include heart, kidney and bone, and related phenotypes are coarse facial features and intellectual disability

Disease Ontology : 12 A frontometaphyseal dysplasia characterized by generalized skeletal dysplasia, deafness, and urogenital defects that has material basis in homozygous or hemizygous mutation in FLNA on chromosome Xq28.

UniProtKB/Swiss-Prot : 73 Frontometaphyseal dysplasia 1: An X-linked disease characterized by generalized skeletal dysplasia, deafness, and urogenital defects.

Related Diseases for Frontometaphyseal Dysplasia 1

Diseases in the Frontometaphyseal Dysplasia family:

Frontometaphyseal Dysplasia 1 Frontometaphyseal Dysplasia 2

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

(show all 43)
# Related Disease Score Top Affiliating Genes
1 frontometaphyseal dysplasia 32.4 MT1E LOC107988032 FLNA ADGRV1
2 melnick-needles syndrome 31.6 LOC107988032 FLNA
3 frontometaphyseal dysplasia 2 31.1 H1-5 FBXW2 ADGRV1
4 fibromuscular dysplasia 12.4
5 otopalatodigital syndrome, type i 11.4
6 facioscapulohumeral muscular dystrophy 1 11.4
7 otopalatodigital syndrome, type ii 11.3
8 coronary artery dissection, spontaneous 11.2
9 mouth disease 11.1
10 arteries, anomalies of 10.3
11 hyperlipoproteinemia, type iii 10.3
12 lipoprotein quantitative trait locus 10.3
13 47,xyy 10.3
14 follicular lymphoma 10.2
15 ischemia 10.2
16 heart valve disease 10.2
17 anthrax disease 10.2
18 cytokine deficiency 10.2
19 aneurysm 10.2
20 intestinal pseudoobstruction, neuronal, chronic idiopathic, x-linked 10.1 LOC107988032 FLNA
21 periventricular nodular heterotopia 1 10.1 LOC107988032 FLNA
22 periventricular nodular heterotopia 10.1 LOC107988032 FLNA
23 fg syndrome 2 10.1 LOC107988032 FLNA
24 terminal osseous dysplasia 10.1 LOC107988032 FLNA
25 atrial standstill 1 10.1
26 hypertriglyceridemia, familial 10.1
27 systemic lupus erythematosus 10.1
28 ocular motor apraxia 10.1
29 body mass index quantitative trait locus 1 10.1
30 mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome 10.1
31 mastitis 10.1
32 rabies 10.1
33 urticaria 10.1
34 renovascular hypertension 10.1
35 arteriosclerosis 10.1
36 movement disease 10.1
37 myocarditis 10.1
38 keratoconjunctivitis 10.1
39 reversible cerebral vasoconstriction syndrome 10.1
40 raynaud phenomenon 10.1
41 cardiac valvular dysplasia, x-linked 10.0 LOC107988032 FLNA
42 neurotic disorder 9.9 FLNA FBXW2
43 parasitic ectoparasitic infectious disease 9.8 MT1E FLNA

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



Diseases related to Frontometaphyseal Dysplasia 1

Symptoms & Phenotypes for Frontometaphyseal Dysplasia 1

Human phenotypes related to Frontometaphyseal Dysplasia 1:

31 (show all 42)
# Description HPO Frequency HPO Source Accession
1 coarse facial features 31 HP:0000280
2 intellectual disability 31 HP:0001249
3 hypertelorism 31 HP:0000316
4 prominent supraorbital ridges 31 HP:0000336
5 scoliosis 31 HP:0002650
6 dental malocclusion 31 HP:0000689
7 wide nasal bridge 31 HP:0000431
8 sensorineural hearing impairment 31 HP:0000407
9 skeletal muscle atrophy 31 HP:0003202
10 genu valgum 31 HP:0002857
11 high palate 31 HP:0000218
12 elbow flexion contracture 31 HP:0002987
13 scapular winging 31 HP:0003691
14 mitral valve prolapse 31 HP:0001634
15 arachnodactyly 31 HP:0001166
16 downslanted palpebral fissures 31 HP:0000494
17 delayed eruption of teeth 31 HP:0000684
18 hydronephrosis 31 HP:0000126
19 pointed chin 31 HP:0000307
20 wrist flexion contracture 31 HP:0001239
21 coxa valga 31 HP:0002673
22 camptodactyly of finger 31 HP:0100490
23 hydroureter 31 HP:0000072
24 ankle flexion contracture 31 HP:0006466
25 knee flexion contracture 31 HP:0006380
26 stridor 31 HP:0010307
27 fused cervical vertebrae 31 HP:0002949
28 hirsutism 31 HP:0001007
29 persistence of primary teeth 31 HP:0006335
30 selective tooth agenesis 31 HP:0001592
31 short chin 31 HP:0000331
32 long foot 31 HP:0001833
33 anteriorly placed odontoid process 31 HP:0004608
34 broad phalanges of the hand 31 HP:0009768
35 coat hanger sign of ribs 31 HP:0006665
36 large foramen magnum 31 HP:0002700
37 cor pulmonale 31 HP:0001648
38 antegonial notching of mandible 31 HP:0003779
39 long phalanx of finger 31 HP:0006155
40 partial fusion of carpals 31 HP:0006207
41 increased density of long bone diaphyses 31 HP:0006440
42 partial fusion of tarsals 31 HP:0008097

Symptoms via clinical synopsis from OMIM:

56
Head And Neck Eyes:
hypertelorism
downslanting palpebral fissures

Skeletal Spine:
scoliosis
anteriorly placed odontoid process
wide interpedicular distance
cervical vertebral fusion

Skeletal Limbs:
genu valgum
increased density of long bone diaphyses
elbow contractures
knee and ankle contractures
erlenmeyer-flask appearance of femur and tibia

Cardiovascular Heart:
mitral valve prolapse

Genitourinary Kidneys:
hydronephrosis

Genitourinary Ureters:
hydroureter

Respiratory Lung:
cor pulmonale

Skeletal Feet:
partial fusion of tarsals
large feet

Chest Ribs Sternum Clavicles And Scapulae:
winged scapulae
irregular rib contours
"coat hanger" deformity of lower ribs

Head And Neck Ears:
progressive mixed conductive and sensorineural hearing loss

Muscle Soft Tissue:
muscle wasting (especially legs and arms)

Head And Neck Face:
prominent supraorbital ridges
coarse facies
small pointed chin

Head And Neck Nose:
wide nasal bridge

Head And Neck Mouth:
high palate

Skeletal Hands:
arachnodactyly
partial fusion of carpals
finger and wrist contractures
wide and elongated phalanges

Skeletal Pelvis:
coxa valga
flared pelvis

Head And Neck Teeth:
selective tooth agenesis
malocclusion
delayed tooth eruption
retained deciduous teeth

Skeletal Skull:
antegonial notching of mandible
incomplete sinus development
wide foramen magnum
hypoplastic condyloid process

Neurologic Central Nervous System:
mental retardation

Respiratory Airways:
congenital stridor
subglottic tracheal narrowing

Skin Nails Hair Hair:
hirsutism of buttocks and thighs

Clinical features from OMIM:

305620

Drugs & Therapeutics for Frontometaphyseal Dysplasia 1

Search Clinical Trials , NIH Clinical Center for Frontometaphyseal Dysplasia 1

Genetic Tests for Frontometaphyseal Dysplasia 1

Genetic tests related to Frontometaphyseal Dysplasia 1:

# Genetic test Affiliating Genes
1 Frontometaphyseal Dysplasia 1 29 FLNA

Anatomical Context for Frontometaphyseal Dysplasia 1

MalaCards organs/tissues related to Frontometaphyseal Dysplasia 1:

40
Heart, Kidney, Bone, Skeletal Muscle, Lung, Endothelial

Publications for Frontometaphyseal Dysplasia 1

Articles related to Frontometaphyseal Dysplasia 1:

(show all 25)
# Title Authors PMID Year
1
A new three-generational family with frontometaphyseal dysplasia, male-to-female transmission, and a previously reported FLNA mutation. 56 6
15523633 2005
2
X-Linked Otopalatodigital Spectrum Disorders 6 61
20301567 2005
3
Frontometaphyseal dysplasia: mutations in FLNA and phenotypic diversity. 56
16835913 2006
4
Genotype-epigenotype-phenotype correlations in females with frontometaphyseal dysplasia. 6
16596676 2006
5
Filamin A: phenotypic diversity. 6
15917206 2005
6
Localized mutations in the gene encoding the cytoskeletal protein filamin A cause diverse malformations in humans. 56
12612583 2003
7
Clinical and genetic heterogeneity in frontometaphyseal dysplasia: severe progressive scoliosis in two families. 56
12503106 2003
8
Fronto-otopalatodigital osteodysplasia: clinical evidence for a single entity encompassing Melnick-Needles syndrome, otopalatodigital syndrome types 1 and 2, and frontometaphyseal dysplasia. 56
10706363 2000
9
Esophageal atresia with distal tracheoesophageal fistula in a patient with fronto-metaphyseal dysplasia. 56
9375915 1997
10
CT and MR findings in frontometaphyseal dysplasia. 6
9071288 1997
11
Frontometaphyseal dysplasia: neonatal radiographic diagnosis. 56
7645585 1995
12
Fronto-metaphyseal dysplasia. Further delineation of the clinical syndrome. 56
7151303 1982
13
Frontometaphyseal dysplasia: autosomal dominant or X-linked? 56
7189217 1980
14
Frontometaphyseal dysplasia--evidence for X-linked inheritance. 56
7395904 1980
15
Frontometaphyseal dysplasia presenting as scoliosis. 56
649644 1978
16
Frontometaphyseal dysplasia: evidence for autosomal dominant inheritance. 56
998829 1976
17
Frontometaphyseal Dysplasia. Evidence for dominant inheritance. 56
1258835 1976
18
[Fronto-metaphyseal dysplasia]. 56
1094899 1975
19
Frontometaphyseal dysplasia. 56
5044403 1972
20
Fronto-metaphyseal dysplasia. A progressive disease of bone and connective tissue. 56
5026209 1972
21
Frontometaphyseal dysplasia. A new syndrome. 56
5807657 1969
22
Genetic investigation of formaldehyde-induced DNA damage response in Schizosaccharomyces pombe. 61
32034465 2020
23
Identification and pathogenicity analysis of Streptococcus equinus FMD1, a beta-hemolytic strain isolated from forest musk deer lung. 61
31902837 2020
24
[Effect of 6-month therapy with perindopril A on structural-functional state of arterial vascular bed in patients with chronic heart failure]. 61
24888193 2014
25
Transient endothelial dysfunction following flow-mediated dilation assessment. 61
21153030 2011

Variations for Frontometaphyseal Dysplasia 1

ClinVar genetic disease variations for Frontometaphyseal Dysplasia 1:

6 (show top 50) (show all 221) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 FLNA NM_001110556.2(FLNA):c.3668C>T (p.Pro1223Leu)SNV Pathogenic 405445 rs1060500716 X:153588495-153588495 X:154360127-154360127
2 FLNA NM_001110556.2(FLNA):c.5988_5989del (p.Cys1997fs)deletion Pathogenic 405447 rs1060500718 X:153581697-153581698 X:154353329-154353330
3 FLNA NM_001110556.2(FLNA):c.4840_4852del (p.Gly1614fs)deletion Pathogenic 464997 rs1557177086 X:153585895-153585907 X:154357527-154357539
4 FLNA NM_001110556.2(FLNA):c.999_1008dup (p.Asp337delinsArgGlnTer)duplication Pathogenic 465027 rs1557179357 X:153594986-153594987 X:154366618-154366619
5 FLNA NM_001110556.2(FLNA):c.3814del (p.Arg1272fs)deletion Pathogenic 533585 rs1557177636 X:153588265-153588265 X:154359897-154359897
6 FLNA NM_001110556.2(FLNA):c.3529G>T (p.Glu1177Ter)SNV Pathogenic 533562 rs1557177738 X:153588634-153588634 X:154360266-154360266
7 FLNA NM_001110556.2(FLNA):c.3865G>T (p.Gly1289Ter)SNV Pathogenic 574177 rs1557177623 X:153588214-153588214 X:154359846-154359846
8 FLNA NM_001110556.2(FLNA):c.5643del (p.Asn1881fs)deletion Pathogenic 575768 rs1569551502 X:153582326-153582326 X:154353958-154353958
9 FLNA NM_001110556.2(FLNA):c.2565+1G>ASNV Pathogenic 575118 rs786205186 X:153590785-153590785 X:154362417-154362417
10 FLNA NM_001110556.2(FLNA):c.5879dup (p.Met1960fs)duplication Pathogenic 647567 X:153581806-153581807 X:154353438-154353439
11 FLNA NM_001110556.2(FLNA):c.2452del (p.Ala818fs)deletion Pathogenic 659278 X:153590899-153590899 X:154362531-154362531
12 FLNA NM_001110556.2(FLNA):c.7872_7873del (p.Glu2625fs)deletion Pathogenic 652215 X:153577288-153577289 X:154348920-154348921
13 FLNA NM_001110556.2(FLNA):c.3296_3304delinsTCGG (p.Gly1099fs)indel Pathogenic 662513 X:153588859-153588867 X:154360491-154360499
14 FLNA NM_001110556.2(FLNA):c.3476A>C (p.Asp1159Ala)SNV Pathogenic 11757 rs28935471 X:153588687-153588687 X:154360319-154360319
15 FLNA NM_001110556.2(FLNA):c.3557C>T (p.Ser1186Leu)SNV Pathogenic/Likely pathogenic 11761 rs137853312 X:153588606-153588606 X:154360238-154360238
16 FLNA NM_001110556.2(FLNA):c.676C>T (p.Arg226Ter)SNV Pathogenic/Likely pathogenic 580826 rs1569551861 X:153596053-153596053 X:154367685-154367685
17 FLNA NM_001110556.2(FLNA):c.5686+1G>CSNV Likely pathogenic 533566 rs1557176315 X:153582282-153582282 X:154353914-154353914
18 FLNA NM_001110556.2(FLNA):c.4596_4598+5deldeletion Likely pathogenic 464993 rs1557177279 X:153586808-153586815 X:154358440-154358447
19 FLNA NM_001110556.2(FLNA):c.4143-1G>TSNV Likely pathogenic 464989 rs1557177485 X:153587775-153587775 X:154359407-154359407
20 FLNA NM_001110556.2(FLNA):c.4142+1G>ASNV Likely pathogenic 662049 X:153587851-153587851 X:154359483-154359483
21 FLNA NM_001110556.2(FLNA):c.7389G>A (p.Ser2463=)SNV Conflicting interpretations of pathogenicity 382810 rs373103712 X:153578180-153578180 X:154349812-154349812
22 FLNA NM_001110556.2(FLNA):c.3708C>T (p.Gly1236=)SNV Conflicting interpretations of pathogenicity 288752 rs200363918 X:153588455-153588455 X:154360087-154360087
23 FLNA NM_001110556.2(FLNA):c.4420G>A (p.Asp1474Asn)SNV Conflicting interpretations of pathogenicity 195948 rs782129236 X:153587406-153587406 X:154359038-154359038
24 FLNA NM_001110556.2(FLNA):c.4263C>T (p.Thr1421=)SNV Conflicting interpretations of pathogenicity 93759 rs398123618 X:153587654-153587654 X:154359286-154359286
25 FLNA NM_001110556.2(FLNA):c.1621G>A (p.Glu541Lys)SNV Conflicting interpretations of pathogenicity 213521 rs743546 X:153593574-153593574 X:154365206-154365206
26 FLNA NM_001110556.2(FLNA):c.1291G>C (p.Glu431Gln)SNV Conflicting interpretations of pathogenicity 213517 rs781915319 X:153594530-153594530 X:154366162-154366162
27 FLNA NM_001110556.2(FLNA):c.2974A>G (p.Thr992Ala)SNV Conflicting interpretations of pathogenicity 588552 rs782445995 X:153589909-153589909 X:154361541-154361541
28 FLNA NM_001110556.2(FLNA):c.2364G>A (p.Glu788=)SNV Conflicting interpretations of pathogenicity 625949 rs1448428046 X:153591069-153591069 X:154362701-154362701
29 FLNA NM_001110556.2(FLNA):c.7779_7780insTTCGGGG (p.Val2594fs)insertion Conflicting interpretations of pathogenicity 453200 rs1557175195 X:153577381-153577382 X:154349013-154349014
30 FLNA NM_001110556.2(FLNA):c.6376C>T (p.Pro2126Ser)SNV Conflicting interpretations of pathogenicity 533577 rs782400832 X:153581143-153581143 X:154352775-154352775
31 FLNA NM_001110556.2(FLNA):c.1138G>A (p.Asp380Asn)SNV Conflicting interpretations of pathogenicity 561301 rs782090266 X:153594766-153594766 X:154366398-154366398
32 FLNA NC_000023.10:g.(?_153579929)_(153649363_?)dupduplication Uncertain significance 584126 X:153579929-153649363
33 FLNA NM_001110556.2(FLNA):c.7388C>T (p.Ser2463Leu)SNV Uncertain significance 566993 rs1460574102 X:153578181-153578181 X:154349813-154349813
34 FLNA NM_001110556.2(FLNA):c.7157A>G (p.Asp2386Gly)SNV Uncertain significance 570374 rs371563857 X:153578575-153578575 X:154350207-154350207
35 FLNA NM_001110556.2(FLNA):c.6776T>C (p.Phe2259Ser)SNV Uncertain significance 577159 rs1276647740 X:153580383-153580383 X:154352015-154352015
36 FLNA NM_001110556.2(FLNA):c.5033C>T (p.Ala1678Val)SNV Uncertain significance 567142 rs1382817700 X:153583377-153583377 X:154355009-154355009
37 FLNA NM_001110556.2(FLNA):c.4696G>A (p.Val1566Met)SNV Uncertain significance 566852 rs1181500076 X:153586626-153586626 X:154358258-154358258
38 FLNA NM_001110556.2(FLNA):c.4018G>A (p.Val1340Met)SNV Uncertain significance 570338 rs782342052 X:153587976-153587976 X:154359608-154359608
39 FLNA NM_001110556.2(FLNA):c.3602C>T (p.Ala1201Val)SNV Uncertain significance 583155 rs201810442 X:153588561-153588561 X:154360193-154360193
40 FLNA NM_001110556.2(FLNA):c.714C>G (p.Ile238Met)SNV Uncertain significance 575170 rs1557179587 X:153596015-153596015 X:154367647-154367647
41 FLNA NM_001110556.2(FLNA):c.7210G>A (p.Val2404Ile)SNV Uncertain significance 567511 rs782811927 X:153578522-153578522 X:154350154-154350154
42 FLNA NM_001110556.2(FLNA):c.6565G>A (p.Glu2189Lys)SNV Uncertain significance 579753 rs1405780478 X:153580753-153580753 X:154352385-154352385
43 FLNA NM_001110556.2(FLNA):c.5978G>C (p.Arg1993Pro)SNV Uncertain significance 568704 rs782401919 X:153581708-153581708 X:154353340-154353340
44 FLNA NM_001110556.2(FLNA):c.5098G>A (p.Val1700Met)SNV Uncertain significance 582991 rs782351877 X:153583312-153583312 X:154354944-154354944
45 FLNA NM_001110556.2(FLNA):c.4825G>A (p.Val1609Met)SNV Uncertain significance 582182 rs782314291 X:153585922-153585922 X:154357554-154357554
46 FLNA NM_001110556.2(FLNA):c.3979+5G>ASNV Uncertain significance 572412 rs1569551642 X:153588095-153588095 X:154359727-154359727
47 FLNA NM_001110556.2(FLNA):c.2831C>T (p.Pro944Leu)SNV Uncertain significance 572007 rs782451202 X:153590151-153590151 X:154361783-154361783
48 FLNA NM_001110556.2(FLNA):c.2483G>A (p.Arg828His)SNV Uncertain significance 567520 rs1347740802 X:153590868-153590868 X:154362500-154362500
49 FLNA NM_001110556.2(FLNA):c.1438C>T (p.Pro480Ser)SNV Uncertain significance 565416 rs782682232 X:153593846-153593846 X:154365478-154365478
50 FLNA NM_001110556.2(FLNA):c.3260G>A (p.Arg1087His)SNV Uncertain significance 533573 rs369668866 X:153588903-153588903 X:154360535-154360535

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

73
# Symbol AA change Variation ID SNP ID
1 FLNA p.Asp1159Ala VAR_015702 rs28935471
2 FLNA p.Ser1186Leu VAR_015721 rs137853312
3 FLNA p.Gly1728Cys VAR_031312 rs137853316

Expression for Frontometaphyseal Dysplasia 1

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

Pathways for Frontometaphyseal Dysplasia 1

GO Terms for Frontometaphyseal Dysplasia 1

Biological processes related to Frontometaphyseal Dysplasia 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 establishment of protein localization GO:0045184 8.62 FLNA ADGRV1

Sources for Frontometaphyseal Dysplasia 1

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
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35 IUPHAR
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44 MESH via Orphanet
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48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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